chr10 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr1 0 0 Copy number Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 NOT_FOUND chr1 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr10 100000501 100197500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPS1,LOXL4,MIR1287,MIR4685,PYROXD2,R3HCC1L chr10 100015084 100015418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOXL4 chr10 10002104 10066195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 10003246 17949086 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACBD7,BEND7,C10orf111,C10orf47,C1QL3,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,ECHDC3,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100128098,LOC100192204,LOC219731,LOC254312,LOC283070,LOC439950,MCM10,MEIG1,MIR1265,MIR4480,MIR511-1,MIR511-2,MRC1,NMT2,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,PTPLA,RPP38,RSU1,SEC61A2,SEPHS1,SFTA1P,ST8SIA6,STAM,SUV39H2,TMEM236,TRDMT1,UCMA,UPF2,USP6NL,VIM chr10 100064804 100064902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 100068828 100068928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 100133313 100164929 Gain and loss Pancreatic cancer SNP array 17952125 MIR1287,PYROXD2 chr10 100133316 100164931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR1287,PYROXD2 chr10 100133316 100164931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR1287,PYROXD2 chr10 100144965 100145054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PYROXD2 chr10 100165945 100196699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPS1,MIR4685,PYROXD2 chr10 100165945 100196699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPS1,MIR4685,PYROXD2 chr10 100165946 100196694 Gain and loss Pancreatic cancer SNP array 17952125 HPS1,MIR4685,PYROXD2 chr10 100172965 100173065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PYROXD2 chr10 100208522 100425944 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HPSE2 chr10 100208522 100815408 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HPSE2 chr10 100208865 100985609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPSE2 chr10 100208865 100985609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPSE2 chr10 100208866 100985609 Amplification Intellectual disability 100k SNP Array 21811512 HPSE2 chr10 100209321 100985549 Gain and loss Pancreatic cancer SNP array 17952125 HPSE2 chr10 100242516 100242616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPSE2 chr10 100245971 100283917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HPSE2 chr10 100290510 100290590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPSE2 chr10 100335890 100335990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPSE2 chr10 100355408 101206110 LOH Normal High-resolution SNP genotyping 21211785 CNNM1,GOT1,HPSE2 chr10 100363063 101263539 LOH Normal High-resolution SNP genotyping 21211785 CNNM1,GOT1,HPSE2 chr10 100367293 101263539 LOH Normal High-resolution SNP genotyping 21211785 CNNM1,GOT1,HPSE2 chr10 100367382 100915400 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 HPSE2 chr10 100391735 100922783 Gain Autism - 20841430 HPSE2 chr10 100486970 100487277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HPSE2 chr10 100500063 100915400 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 HPSE2 chr10 100561777 100561867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPSE2 chr10 100564659 101907356 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCC2,CNNM1,COX15,CPN1,CUTC,DNMBP,DNMBP-AS1,ENTPD7,GOT1,HPSE2,NKX2-3,SLC25A28 chr10 100569090 101531934 LOH Normal High-resolution SNP genotyping 21211785 CNNM1,COX15,CUTC,ENTPD7,GOT1,HPSE2,NKX2-3,SLC25A28 chr10 10058972 10215130 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr10 100642536 100642636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPSE2 chr10 100661762 100707511 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HPSE2 chr10 100671195 100714472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HPSE2 chr10 100672444 100686782 Loss or gain Normal 244K array 17666407 HPSE2 chr10 100673057 100695436 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HPSE2 chr10 100676395 100696980 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HPSE2 chr10 100676430 100693732 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HPSE2 chr10 100685699 101305089 LOH Normal High-resolution SNP genotyping 21211785 CNNM1,GOT1,HPSE2,NKX2-3 chr10 100705568 100705668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPSE2 chr10 1007097 1024281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 100762850 100763699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPSE2 chr10 100797386 100798066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPSE2 chr10 100799678 100799778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPSE2 chr10 100950233 100950333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPSE2 chr10 100954377 100999125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HPSE2 chr10 10097124 10097224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101004235 101004335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101034396 101034496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101037045 101453171 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNNM1,ENTPD7,GOT1,NKX2-3,SLC25A28 chr10 101052084 101052142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 101072005 101072105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101078846 101144075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNNM1 chr10 101078846 101144075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNNM1 chr10 101080023 101144075 Gain and loss Pancreatic cancer SNP array 17952125 CNNM1 chr10 101130018 101130102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNNM1 chr10 101146618 101180336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNNM1,GOT1 chr10 101146618 101180336 Gain and loss Pancreatic cancer SNP array 17952125 CNNM1,GOT1 chr10 101146618 101180336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNNM1,GOT1 chr10 101194398 101194443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101204050 101204150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101209045 101865263 LOH Normal High-resolution SNP genotyping 21211785 ABCC2,COX15,CPN1,CUTC,DNMBP,DNMBP-AS1,ENTPD7,NKX2-3,SLC25A28 chr10 101216267 101216367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101252413 101252469 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 101271001 101291000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 101272141 101272241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101279725 101300855 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NKX2-3 chr10 101282679 101286270 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 101282700 101285468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 101282700 101286268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 101317845 102093316 LOH Normal High-resolution SNP genotyping 21211785 ABCC2,BLOC1S2,CHUK,COX15,CPN1,CUTC,CWF19L1,DNMBP,DNMBP-AS1,ENTPD7,ERLIN1,PKD2L1,SLC25A28,SNORA12 chr10 101338856 102355341 LOH Normal High-resolution SNP genotyping 21211785 ABCC2,BLOC1S2,CHUK,COX15,CPN1,CUTC,CWF19L1,DNMBP,DNMBP-AS1,ENTPD7,ERLIN1,HIF1AN,LINC00263,NDUFB8,PKD2L1,SCD,SEC31B,SLC25A28,SNORA12,WNT8B chr10 10135390 10135563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101356405 101389186 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A28 chr10 101360272 101370158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 101360272 101370158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 101360272 101370158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 101409253 101455449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTPD7 chr10 101409253 101455449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTPD7 chr10 101409253 101455451 Gain and loss Pancreatic cancer SNP array 17952125 ENTPD7 chr10 101411713 101438197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ENTPD7 chr10 101426384 101458184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENTPD7 chr10 101447154 101447696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTPD7 chr10 101461596 101481890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COX15,ENTPD7 chr10 101461596 101481890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX15,ENTPD7 chr10 101461596 101482413 Gain and loss Pancreatic cancer SNP array 17952125 COX15,ENTPD7 chr10 101481947 101505884 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 COX15,CUTC chr10 101481980 101505878 Gain and loss Pancreatic cancer SNP array 17952125 COX15,CUTC chr10 101481993 101505878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COX15,CUTC chr10 101481993 101505878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX15,CUTC chr10 101512219 102148757 LOH Normal High-resolution SNP genotyping 21211785 ABCC2,BLOC1S2,CHUK,CPN1,CUTC,CWF19L1,DNMBP,DNMBP-AS1,ERLIN1,LINC00263,PKD2L1,SCD,SNORA12 chr10 101532493 101601571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC2 chr10 101532493 101601571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC2 chr10 101532561 101601571 Gain and loss Pancreatic cancer SNP array 17952125 ABCC2 chr10 101538312 101539157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 101541334 101584719 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ABCC2 chr10 101558702 101558787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC2 chr10 101602910 101602942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC2 chr10 101625324 101759666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMBP,DNMBP-AS1 chr10 101625325 101759666 Gain and loss Pancreatic cancer SNP array 17952125 DNMBP,DNMBP-AS1 chr10 101635168 104959528 Gain Prostate cancer Array CGH 18632612 ACTR1A,ARL3,AS3MT,BLOC1S2,BTRC,C10orf2,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CHUK,CNNM2,CPN1,CUEDC2,CWF19L1,CYP17A1,DNMBP,DNMBP-AS1,DPCD,ELOVL3,ERLIN1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,GBF1,HIF1AN,HPS6,KAZALD1,KCNIP2,LBX1,LDB1,LINC00263,LOC100289509,LOC100505761,LZTS2,MGEA5,MIR146B,MIR3158-1,MIR3158-2,MIR608,MRPL43,NDUFB8,NFKB2,NOLC1,NPM3,NT5C2,PAX2,PDZD7,PITX3,PKD2L1,POLL,PPRC1,PSD,SCD,SEC31B,SEMA4G,SFXN2,SFXN3,SNORA12,SUFU,TLX1,TLX1NB,TMEM180,TRIM8,WBP1L,WNT8B chr10 101662835 101664084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNMBP chr10 101676955 101708745 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DNMBP,DNMBP-AS1 chr10 101728950 101773864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNMBP chr10 101769342 101769428 Gain and loss Pancreatic cancer SNP array 17952125 DNMBP chr10 101769342 101769428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMBP chr10 101782479 101782579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101792055 101831632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPN1 chr10 101792055 101831632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPN1 chr10 101792064 101831624 Gain and loss Pancreatic cancer SNP array 17952125 CPN1 chr10 101807579 101807648 Gain and loss Pancreatic cancer SNP array 17952125 CPN1 chr10 101807579 101807648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPN1 chr10 101864164 101864970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 101874901 101874963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 101899838 101938081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERLIN1 chr10 101899838 101938081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERLIN1 chr10 101899842 101935393 Gain and loss Pancreatic cancer SNP array 17952125 ERLIN1 chr10 101900000 103000000 Gain Basal cell lymphoma Array CGH 16317097 BLOC1S2,C10orf2,CHUK,CWF19L1,ERLIN1,FAM178A,FLJ41350,HIF1AN,KAZALD1,LBX1,LINC00263,LZTS2,MIR608,MRPL43,NDUFB8,PAX2,PDZD7,PKD2L1,SCD,SEC31B,SEMA4G,SFXN3,SNORA12,TLX1,TLX1NB,WNT8B chr10 101900000 103000000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 BLOC1S2,C10orf2,CHUK,CWF19L1,ERLIN1,FAM178A,FLJ41350,HIF1AN,KAZALD1,LBX1,LINC00263,LZTS2,MIR608,MRPL43,NDUFB8,PAX2,PDZD7,PKD2L1,SCD,SEC31B,SEMA4G,SFXN3,SNORA12,TLX1,TLX1NB,WNT8B chr10 10190353 10190430 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 101931266 101932026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERLIN1 chr10 101938113 101979334 Gain or loss Breast cancer - 20668451 CHUK,ERLIN1 chr10 101938113 101979334 Gain or loss Cancer - 20668451 CHUK,ERLIN1 chr10 101938113 101979334 Gain or loss Lung cancer - 20668451 CHUK,ERLIN1 chr10 101938113 101979334 Gain or loss Ovarian cancer - 20668451 CHUK,ERLIN1 chr10 101938113 101979334 Gain or loss Pancreas cancer - 20668451 CHUK,ERLIN1 chr10 101938113 101979334 Gain or loss Prostate cancer - 20668451 CHUK,ERLIN1 chr10 101938115 101979334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHUK,ERLIN1 chr10 101938115 101979334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHUK,ERLIN1 chr10 101938115 101979366 Gain and loss Pancreatic cancer SNP array 17952125 CHUK,ERLIN1 chr10 101979686 101979779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHUK chr10 101982044 102017427 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CHUK,CWF19L1,SNORA12 chr10 101982045 102017427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHUK,CWF19L1,SNORA12 chr10 101982045 102017427 Gain and loss Pancreatic cancer SNP array 17952125 CHUK,CWF19L1,SNORA12 chr10 101982045 102017427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHUK,CWF19L1,SNORA12 chr10 101986903 101987049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHUK chr10 101998018 101998842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CWF19L1 chr10 102000000 103000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BLOC1S2,C10orf2,CWF19L1,FAM178A,FLJ41350,HIF1AN,KAZALD1,LBX1,LINC00263,LZTS2,MIR608,MRPL43,NDUFB8,PAX2,PDZD7,PKD2L1,SCD,SEC31B,SEMA4G,SFXN3,TLX1,TLX1NB,WNT8B chr10 102000000 103000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BLOC1S2,C10orf2,CWF19L1,FAM178A,FLJ41350,HIF1AN,KAZALD1,LBX1,LINC00263,LZTS2,MIR608,MRPL43,NDUFB8,PAX2,PDZD7,PKD2L1,SCD,SEC31B,SEMA4G,SFXN3,TLX1,TLX1NB,WNT8B chr10 102000000 111800000 Copy number renal hypoplasia - 20603712 ACTR1A,ADD3,ARL3,AS3MT,BLOC1S2,BTRC,C10orf2,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CCDC147,CNNM2,COL17A1,CUEDC2,CWF19L1,CYP17A1,DPCD,ELOVL3,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,GBF1,GSTO1,GSTO2,HIF1AN,HPS6,INA,ITPRIP,KAZALD1,KCNIP2,LBX1,LDB1,LINC00263,LOC100289509,LOC100505761,LOC100505839,LOC100505933,LOC729020,LZTS2,MGEA5,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4482-1,MIR608,MIR609,MIR936,MRPL43,NDUFB8,NEURL,NFKB2,NOLC1,NPM3,NT5C2,OBFC1,PAX2,PCGF6,PDCD11,PDZD7,PITX3,PKD2L1,POLL,PPRC1,PSD,RNU6-53,SCD,SEC31B,SEMA4G,SFR1,SFXN2,SFXN3,SH3PXD2A,SLK,SORCS1,SORCS3,SUFU,TAF5,TLX1,TLX1NB,TMEM180,TRIM8,USMG5,WBP1L,WDR96,WNT8B,XPNPEP1 chr10 102008318 102008421 Gain and loss Pancreatic cancer SNP array 17952125 CWF19L1 chr10 102008318 102008424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CWF19L1 chr10 102020668 102020768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CWF19L1 chr10 102023702 102036429 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 BLOC1S2,CWF19L1 chr10 102023703 102036429 Gain and loss Pancreatic cancer SNP array 17952125 BLOC1S2,CWF19L1 chr10 102023703 102036436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S2,CWF19L1 chr10 102023703 102036436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S2,CWF19L1 chr10 102037893 102080233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S2,PKD2L1 chr10 102037893 102080233 Gain and loss Pancreatic cancer SNP array 17952125 BLOC1S2,PKD2L1 chr10 102037893 102080233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S2,PKD2L1 chr10 102047352 102047352 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr10 102096762 102114577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCD chr10 102096762 102114577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCD chr10 102096871 102114581 Gain and loss Pancreatic cancer SNP array 17952125 SCD chr10 102109572 102109660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCD chr10 102114171 102114551 Gain and loss Pancreatic cancer SNP array 17952125 SCD chr10 102129665 102129752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102141840 102370625 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HIF1AN,LINC00263,NDUFB8,SEC31B,WNT8B chr10 102148099 102148193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00263 chr10 102148101 102148193 Gain and loss Pancreatic cancer SNP array 17952125 LINC00263 chr10 102148102 102148193 Gain and loss Pancreatic cancer SNP array 17952125 LINC00263 chr10 102148299 102149527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 102212801 102233389 Gain or loss Breast cancer - 20668451 WNT8B chr10 102212801 102233389 Gain or loss Cancer - 20668451 WNT8B chr10 102212801 102233389 Gain or loss Lung cancer - 20668451 WNT8B chr10 102212801 102233389 Gain or loss Ovarian cancer - 20668451 WNT8B chr10 102212801 102233389 Gain or loss Pancreas cancer - 20668451 WNT8B chr10 102212801 102233389 Gain or loss Prostate cancer - 20668451 WNT8B chr10 102212802 102233389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT8B chr10 102212802 102233389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT8B chr10 102212832 102233491 Gain and loss Pancreatic cancer SNP array 17952125 WNT8B chr10 102231501 102718500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM178A,HIF1AN,NDUFB8,PAX2,SEC31B,WNT8B chr10 102233166 102233468 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 WNT8B chr10 102236393 102269585 Gain and loss Pancreatic cancer SNP array 17952125 SEC31B,WNT8B chr10 102236393 102279618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC31B,WNT8B chr10 102236393 102279618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC31B,WNT8B chr10 102263673 107395891 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTR1A,ARL3,AS3MT,BTRC,C10orf2,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CCDC147,CNNM2,COL17A1,CUEDC2,CYP17A1,DPCD,ELOVL3,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,GBF1,GSTO1,GSTO2,HIF1AN,HPS6,INA,ITPRIP,KAZALD1,KCNIP2,LBX1,LDB1,LOC100289509,LOC100505761,LOC100505839,LOC729020,LZTS2,MGEA5,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4482-1,MIR608,MIR609,MIR936,MRPL43,NDUFB8,NEURL,NFKB2,NOLC1,NPM3,NT5C2,OBFC1,PAX2,PCGF6,PDCD11,PDZD7,PITX3,POLL,PPRC1,PSD,SEC31B,SEMA4G,SFR1,SFXN2,SFXN3,SH3PXD2A,SLK,SORCS3,SUFU,TAF5,TLX1,TLX1NB,TMEM180,TRIM8,USMG5,WBP1L,WDR96 chr10 102267314 102289260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDUFB8,SEC31B chr10 102273487 102279747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC31B chr10 102273487 102279747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC31B chr10 102273489 102279628 Gain and loss Pancreatic cancer SNP array 17952125 SEC31B chr10 102285686 102299745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIF1AN,NDUFB8 chr10 102285686 102299745 Gain and loss Pancreatic cancer SNP array 17952125 HIF1AN,NDUFB8 chr10 102285686 102299745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIF1AN,NDUFB8 chr10 102368626 102555726 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PAX2 chr10 102399106 102416455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 102399601 102403100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 102426641 102471270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 1024349 1053688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTPBP4 chr10 1024349 1053688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTPBP4 chr10 1024397 1053707 Gain and loss Pancreatic cancer SNP array 17952125 GTPBP4 chr10 102441169 102473292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 102447437 105570953 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-644K arrays 21546498 ACTR1A,ARL3,AS3MT,BTRC,C10orf2,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CNNM2,CUEDC2,CYP17A1,DPCD,ELOVL3,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,GBF1,HPS6,INA,KAZALD1,KCNIP2,LBX1,LDB1,LOC100289509,LOC100505761,LOC100505839,LOC729020,LZTS2,MGEA5,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR608,MRPL43,NEURL,NFKB2,NOLC1,NPM3,NT5C2,PAX2,PCGF6,PDCD11,PDZD7,PITX3,POLL,PPRC1,PSD,SEMA4G,SFXN2,SFXN3,SH3PXD2A,SUFU,TAF5,TLX1,TLX1NB,TMEM180,TRIM8,USMG5,WBP1L chr10 10244921 10245021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102495322 102579687 Gain and loss Pancreatic cancer SNP array 17952125 PAX2 chr10 102495457 102579688 Copy number Glaucoma Affymetrix 500K two-chip SNP array 21310917 PAX2 chr10 102495458 102579688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAX2 chr10 102495458 102579688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAX2 chr10 102502461 102502521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102504515 102504598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102510733 102510768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAX2 chr10 102516682 102516782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAX2 chr10 102526443 102559553 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAX2 chr10 102529652 102529795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAX2 chr10 102532968 102533063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAX2 chr10 102554848 102562123 Amplification or deletion Cancer Array CGH 17440070 PAX2 chr10 10256199 10256546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 10256199 10256546 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 10256199 10256546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 102572602 102572683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAX2 chr10 102625652 102625740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102656748 102656819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102656921 102657027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 102656923 102656997 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 102656923 102657027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 102662316 102714879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM178A chr10 102662316 102714879 Gain and loss Pancreatic cancer SNP array 17952125 FAM178A chr10 102662316 102714879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM178A chr10 102712906 102835231 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 C10orf2,FAM178A,KAZALD1,LZTS2,MIR608,MRPL43,PDZD7,SEMA4G,SFXN3 chr10 102718501 103042500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf2,FAM178A,FLJ41350,KAZALD1,LBX1,LZTS2,MIR608,MRPL43,PDZD7,SEMA4G,SFXN3,TLX1,TLX1NB chr10 102719270 102735362 Gain and loss Pancreatic cancer SNP array 17952125 FAM178A,MIR608,SEMA4G chr10 102722276 102735362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM178A,MIR608,SEMA4G chr10 102722276 102735362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM178A,MIR608,SEMA4G chr10 102724732 102724831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM178A chr10 102724768 102752246 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 C10orf2,FAM178A,MIR608,MRPL43,SEMA4G chr10 102727569 102737262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR608,SEMA4G chr10 102727569 102737262 Gain and loss Pancreatic cancer SNP array 17952125 MIR608,SEMA4G chr10 102727569 102737262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR608,SEMA4G chr10 102728201 102728301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102737302 102744148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL43,SEMA4G chr10 102737302 102744148 Gain and loss Pancreatic cancer SNP array 17952125 MRPL43,SEMA4G chr10 102737302 102744148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL43,SEMA4G chr10 102746954 102757577 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 C10orf2,LZTS2,MRPL43 chr10 102746955 102757575 Gain and loss Pancreatic cancer SNP array 17952125 C10orf2,LZTS2,MRPL43 chr10 102746955 102757583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf2,LZTS2,MRPL43 chr10 102746955 102757583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf2,LZTS2,MRPL43 chr10 102757557 102780869 Gain and loss Pancreatic cancer SNP array 17952125 LZTS2,PDZD7 chr10 102757576 102780876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LZTS2,PDZD7 chr10 102757576 102780876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LZTS2,PDZD7 chr10 102771955 102790503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDZD7 chr10 102780981 102790988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDZD7 chr10 102780981 102790988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDZD7 chr10 102780986 102790987 Gain and loss Pancreatic cancer SNP array 17952125 PDZD7 chr10 102805821 102806821 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr10 102810989 102817856 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 102811588 102817878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 102811588 102817878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 102826006 102826082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102872526 102873614 Gain and loss Pancreatic cancer SNP array 17952125 TLX1NB chr10 102880251 102887526 Gain or loss Breast cancer - 20668451 TLX1NB chr10 102880251 102887526 Gain or loss Cancer - 20668451 TLX1NB chr10 102880251 102887526 Gain or loss Lung cancer - 20668451 TLX1NB chr10 102880251 102887526 Gain or loss Ovarian cancer - 20668451 TLX1NB chr10 102880251 102887526 Gain or loss Pancreas cancer - 20668451 TLX1NB chr10 102880251 102887526 Gain or loss Prostate cancer - 20668451 TLX1NB chr10 102880597 102887526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLX1NB chr10 102880597 102887526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLX1NB chr10 102881289 102886660 Gain and loss Pancreatic cancer SNP array 17952125 TLX1NB chr10 102889436 104529588 LOH Normal High-resolution SNP genotyping 21211785 ACTR1A,ARL3,BTRC,C10orf76,C10orf95,CUEDC2,DPCD,ELOVL3,FBXL15,FBXW4,FGF8,FLJ41350,GBF1,HPS6,KCNIP2,LBX1,LDB1,LOC100289509,LOC100505761,MGEA5,MIR146B,MIR3158-1,MIR3158-2,NFKB2,NOLC1,NPM3,PITX3,POLL,PPRC1,PSD,SFXN2,SUFU,TLX1,TLX1NB,TMEM180,TRIM8,WBP1L chr10 102895110 124244273 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABLIM1,ACSL5,ACTR1A,ADD3,ADRA2A,ADRB1,AFAP1L2,ARL3,ARMS2,AS3MT,ATE1,ATRNL1,BAG3,BBIP1,BTBD16,BTRC,C10orf118,C10orf32,C10orf32-AS3MT,C10orf76,C10orf82,C10orf95,CACUL1,CALHM1,CALHM2,CALHM3,CASC2,CASP7,CCDC147,CCDC172,CNNM2,COL17A1,CUEDC2,CYP17A1,DCLRE1A,DPCD,DUSP5,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,FAM160B1,FAM204A,FAM45A,FAM45B,FBXL15,FBXW4,FGF8,FGFR2,FLJ41350,GBF1,GFRA1,GPAM,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HPS6,HSPA12A,HTRA1,INA,INPP5F,ITPRIP,KCNIP2,KCNK18,KIAA1598,LBX1,LDB1,LOC100289509,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC729020,MCMBP,MGEA5,MIR1307,MIR146B,MIR2110,MIR3158-1,MIR3158-2,MIR3663,MIR3941,MIR4295,MIR4482-1,MIR4483,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MXI1,NANOS1,NEURL,NFKB2,NHLRC2,NOLC1,NPM3,NRAP,NSMCE4A,NT5C2,OBFC1,PCGF6,PDCD11,PDCD4,PDZD8,PITX3,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPRC1,PRDX3,PRLHR,PSD,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN2,SFXN4,SH3PXD2A,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,SUFU,TACC2,TAF5,TCF7L2,TDRD1,TECTB,TIAL1,TLX1,TMEM180,TRIM8,TRUB1,USMG5,VAX1,VTI1A,VWA2,WBP1L,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6 chr10 102906672 102939799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 102915956 102916030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 102915956 102916030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 102915956 102916033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 102952846 105813827 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-650K arrays 21546498 ACTR1A,ARL3,AS3MT,BTRC,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CNNM2,COL17A1,CUEDC2,CYP17A1,DPCD,ELOVL3,FBXL15,FBXW4,FGF8,FLJ41350,GBF1,HPS6,INA,KCNIP2,LBX1,LDB1,LOC100289509,LOC100505761,LOC100505839,LOC729020,MGEA5,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR936,NEURL,NFKB2,NOLC1,NPM3,NT5C2,OBFC1,PCGF6,PDCD11,PITX3,POLL,PPRC1,PSD,SFXN2,SH3PXD2A,SLK,SUFU,TAF5,TMEM180,TRIM8,USMG5,WBP1L chr10 102976723 102978562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 102976723 102978707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 102976723 102978707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 102984969 102985069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 102995734 102995769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ41350 chr10 103000000 104900000 Deletion Colorectal cancer PCR 16912164 ACTR1A,ARL3,AS3MT,BTRC,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CNNM2,CUEDC2,CYP17A1,DPCD,ELOVL3,FBXL15,FBXW4,FGF8,GBF1,HPS6,KCNIP2,LDB1,LOC100289509,LOC100505761,MGEA5,MIR146B,MIR3158-1,MIR3158-2,NFKB2,NOLC1,NPM3,NT5C2,PITX3,POLL,PPRC1,PSD,SFXN2,SUFU,TMEM180,TRIM8,WBP1L chr10 103030644 103030716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 103030644 103030716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103042501 103098000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 103057276 103057461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 103057276 103057465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103059538 106822708 LOH Normal High-resolution SNP genotyping 21211785 ACTR1A,ARL3,AS3MT,BTRC,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CCDC147,CNNM2,COL17A1,CUEDC2,CYP17A1,DPCD,ELOVL3,FBXL15,FBXW4,FGF8,GBF1,GSTO1,GSTO2,HPS6,INA,ITPRIP,KCNIP2,LDB1,LOC100289509,LOC100505761,LOC100505839,LOC729020,MGEA5,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4482-1,MIR609,MIR936,NEURL,NFKB2,NOLC1,NPM3,NT5C2,OBFC1,PCGF6,PDCD11,PITX3,POLL,PPRC1,PSD,SFR1,SFXN2,SH3PXD2A,SLK,SORCS3,SUFU,TAF5,TMEM180,TRIM8,USMG5,WBP1L,WDR96 chr10 103075332 103271952 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 BTRC chr10 103085696 104205448 LOH Normal High-resolution SNP genotyping 21211785 BTRC,C10orf76,CUEDC2,DPCD,ELOVL3,FBXL15,FBXW4,FGF8,GBF1,HPS6,KCNIP2,LDB1,LOC100289509,MGEA5,MIR146B,MIR3158-1,MIR3158-2,NFKB2,NOLC1,NPM3,PITX3,POLL,PPRC1,PSD chr10 103085696 104213675 LOH Normal High-resolution SNP genotyping 21211785 BTRC,C10orf76,C10orf95,CUEDC2,DPCD,ELOVL3,FBXL15,FBXW4,FGF8,GBF1,HPS6,KCNIP2,LDB1,LOC100289509,LOC100505761,MGEA5,MIR146B,MIR3158-1,MIR3158-2,NFKB2,NOLC1,NPM3,PITX3,POLL,PPRC1,PSD chr10 10309026 19155158 Deletion Esophageal cancer affymetrix genechip human mapping 274K Nsp arrays 21851588 ACBD7,ARL5B,BEND7,C10orf111,C10orf47,C1QL3,CACNB2,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,ECHDC3,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100128098,LOC100129213,LOC100192204,LOC219731,LOC254312,LOC283070,LOC439950,MCM10,MEIG1,MIR1265,MIR4480,MIR511-1,MIR511-2,MRC1,NMT2,NSUN6,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,PTPLA,RPP38,RSU1,SEC61A2,SEPHS1,SFTA1P,SLC39A12,ST8SIA6,STAM,SUV39H2,TMEM236,TRDMT1,UCMA,UPF2,USP6NL,VIM chr10 103103814 103307060 Gain or loss Breast cancer - 20668451 BTRC chr10 103103814 103307060 Gain or loss Cancer - 20668451 BTRC chr10 103103814 103307060 Gain or loss Lung cancer - 20668451 BTRC chr10 103103814 103307060 Gain or loss Ovarian cancer - 20668451 BTRC chr10 103103814 103307060 Gain or loss Pancreas cancer - 20668451 BTRC chr10 103103814 103307060 Gain or loss Prostate cancer - 20668451 BTRC chr10 103103815 103307058 Gain and loss Pancreatic cancer SNP array 17952125 BTRC chr10 103103815 103307060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTRC chr10 103103815 103307060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTRC chr10 10310839 10310939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 103114592 103114782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTRC chr10 103114595 103114782 Gain and loss Pancreatic cancer SNP array 17952125 BTRC chr10 103121602 103121699 Gain and loss Pancreatic cancer SNP array 17952125 BTRC chr10 103121602 103121699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTRC chr10 10314580 10314679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 10314580 10314681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 10314581 10314678 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 103169248 103624892 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 BTRC,C10orf76,DPCD,FBXW4,FGF8,KCNIP2,LOC100289509,MGEA5,MIR3158-1,MIR3158-2,NPM3,POLL chr10 103264395 103264577 Gain and loss Pancreatic cancer SNP array 17952125 BTRC chr10 103270423 103276346 Gain and loss Pancreatic cancer SNP array 17952125 BTRC chr10 103280000 105830000 Deletion Sezary syndrome Array-based CGH 18413736 ACTR1A,ARL3,AS3MT,BTRC,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CNNM2,COL17A1,CUEDC2,CYP17A1,DPCD,ELOVL3,FBXL15,FBXW4,FGF8,GBF1,HPS6,INA,KCNIP2,LDB1,LOC100289509,LOC100505761,LOC100505839,LOC729020,MGEA5,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR936,NEURL,NFKB2,NOLC1,NPM3,NT5C2,OBFC1,PCGF6,PDCD11,PITX3,POLL,PPRC1,PSD,SFXN2,SH3PXD2A,SLK,SUFU,TAF5,TMEM180,TRIM8,USMG5,WBP1L chr10 103307501 103371000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTRC,DPCD,FBXW4,MIR3158-1,MIR3158-2,POLL chr10 103312727 103312798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTRC chr10 103328629 103338004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103328629 103338004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103328631 103338004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 103330824 103330902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 103338056 103359399 Gain and loss Pancreatic cancer SNP array 17952125 DPCD,POLL chr10 103338072 103359399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPCD,POLL chr10 103338072 103359399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPCD,POLL chr10 103360413 103445006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPCD,FBXW4,MIR3158-1,MIR3158-2 chr10 103360413 103445006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPCD,FBXW4,MIR3158-1,MIR3158-2 chr10 103360414 103445006 Gain and loss Pancreatic cancer SNP array 17952125 DPCD,FBXW4,MIR3158-1,MIR3158-2 chr10 103370262 103370346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 103371592 103382878 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FBXW4 chr10 103372606 103372712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXW4 chr10 103372607 103372706 Gain and loss Pancreatic cancer SNP array 17952125 FBXW4 chr10 103372607 103372706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXW4 chr10 103382001 103386600 Deletion Glioma mate-paired sequence 20126413 FBXW4 chr10 103384003 103385083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBXW4 chr10 103447671 103447770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXW4 chr10 10346501 10350700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 103483027 103545553 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 FGF8,MGEA5,NPM3 chr10 103508001 103528000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 103519876 103525817 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 103519876 103525817 Gain or loss Cancer - 20668451 NOT_FOUND chr10 103519876 103525817 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 103519876 103525817 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 103519876 103525817 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 103519876 103525817 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 103519877 103525817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103519877 103525817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 103519877 103525817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103528001 103533000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FGF8 chr10 103531073 103533148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGF8 chr10 103531073 103533148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF8 chr10 103531073 103533152 Gain and loss Pancreatic cancer SNP array 17952125 FGF8 chr10 103534199 103568165 Gain and loss Pancreatic cancer SNP array 17952125 FGF8,MGEA5,NPM3 chr10 103534199 103568165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF8,MGEA5,NPM3 chr10 103535365 103535429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF8 chr10 103537971 103538071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF8 chr10 103569332 103569401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MGEA5 chr10 103575722 103593667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNIP2,LOC100289509,MGEA5 chr10 103575722 103593667 Gain and loss Pancreatic cancer SNP array 17952125 KCNIP2,LOC100289509,MGEA5 chr10 103575722 103593667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNIP2,LOC100289509,MGEA5 chr10 103589452 103593509 Gain Autism 1M Ailent CGH whole-genome array 21865298 KCNIP2 chr10 103595017 103595072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP2 chr10 103595346 103741789 Gain and loss Pancreatic cancer SNP array 17952125 C10orf76,KCNIP2 chr10 103595346 103805940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf76,KCNIP2 chr10 103595346 103805940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf76,KCNIP2 chr10 103602165 103602254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP2 chr10 103603396 103776162 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C10orf76,KCNIP2 chr10 103616515 103616615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf76 chr10 103618188 103618283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf76 chr10 103687999 105303029 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ACTR1A,ARL3,AS3MT,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CNNM2,CUEDC2,CYP17A1,ELOVL3,FBXL15,GBF1,HPS6,INA,LDB1,LOC100505761,LOC729020,MIR1307,MIR146B,NEURL,NFKB2,NOLC1,NT5C2,PCGF6,PDCD11,PITX3,PPRC1,PSD,SFXN2,SUFU,TAF5,TMEM180,TRIM8,USMG5,WBP1L chr10 103702352 103702451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf76 chr10 103739905 106427297 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ACTR1A,ARL3,AS3MT,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CCDC147,CNNM2,COL17A1,CUEDC2,CYP17A1,ELOVL3,FBXL15,GBF1,GSTO1,GSTO2,HPS6,INA,ITPRIP,LDB1,LOC100505761,LOC100505839,LOC729020,MIR1307,MIR146B,MIR4482-1,MIR609,MIR936,NEURL,NFKB2,NOLC1,NT5C2,OBFC1,PCGF6,PDCD11,PITX3,PPRC1,PSD,SFR1,SFXN2,SH3PXD2A,SLK,SORCS3,SUFU,TAF5,TMEM180,TRIM8,USMG5,WBP1L,WDR96 chr10 103765543 103765642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf76 chr10 103779198 103805871 Gain and loss Pancreatic cancer SNP array 17952125 C10orf76 chr10 103815137 103817780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf76 chr10 103815137 103817780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf76 chr10 103815137 103817782 Gain and loss Pancreatic cancer SNP array 17952125 C10orf76 chr10 103820303 103826718 Amplification or deletion Cancer Array CGH 17440070 HPS6 chr10 103835223 103835477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103837774 103844754 Loss Normal 244K array 17666407 NOT_FOUND chr10 103839715 103839809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103840076 105216337 LOH Normal High-resolution SNP genotyping 21211785 ACTR1A,ARL3,AS3MT,C10orf32,C10orf32-AS3MT,C10orf95,CALHM1,CALHM2,CNNM2,CUEDC2,CYP17A1,ELOVL3,FBXL15,GBF1,INA,LDB1,LOC100505761,LOC729020,MIR1307,MIR146B,NFKB2,NOLC1,NT5C2,PCGF6,PDCD11,PITX3,PPRC1,PSD,SFXN2,SUFU,TAF5,TMEM180,TRIM8,USMG5,WBP1L chr10 103844754 103850087 Loss Normal 244K array 17666407 NOT_FOUND chr10 103857317 103864692 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 103857330 103864692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103857330 103864692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 10386148 10386248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 103882776 103900080 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PPRC1 chr10 103882777 103900078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPRC1 chr10 103882777 103900078 Gain and loss Pancreatic cancer SNP array 17952125 PPRC1 chr10 103882777 103900078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPRC1 chr10 103901923 103913617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOLC1,PPRC1 chr10 103901923 103913617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOLC1,PPRC1 chr10 103902107 103913617 Gain and loss Pancreatic cancer SNP array 17952125 NOLC1,PPRC1 chr10 103911242 103911342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 103928350 104057796 Amplification or deletion Cancer Array CGH 17440070 ELOVL3,GBF1,PITX3 chr10 103931308 103931408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 103931333 103931433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 103934 5767329 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,GTPBP4,IDI1,IDI2,IDI2-AS1,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,MIR5699,NET1,PFKP,PITRM1,TAKR,TUBAL3,UCN3,WDR37,ZMYND11 chr10 103934 944720 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 C10orf108,DIP2C,LARP4B,MIR5699,ZMYND11 chr10 103973563 106380069 LOH Normal High-resolution SNP genotyping 21211785 ACTR1A,ARL3,AS3MT,C10orf32,C10orf32-AS3MT,C10orf95,CALHM1,CALHM2,CALHM3,CCDC147,CNNM2,COL17A1,CUEDC2,CYP17A1,ELOVL3,FBXL15,GBF1,GSTO1,GSTO2,INA,ITPRIP,LOC100505761,LOC100505839,LOC729020,MIR1307,MIR146B,MIR4482-1,MIR609,MIR936,NEURL,NFKB2,NT5C2,OBFC1,PCGF6,PDCD11,PITX3,PSD,SFR1,SFXN2,SH3PXD2A,SLK,SUFU,TAF5,TMEM180,TRIM8,USMG5,WBP1L,WDR96 chr10 103976133 103979329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103976133 103979329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 103976133 103979329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 103979936 103991221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELOVL3,PITX3 chr10 103979936 103991221 Gain and loss Pancreatic cancer SNP array 17952125 ELOVL3,PITX3 chr10 103979936 103991221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELOVL3,PITX3 chr10 103987249 103987349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELOVL3 chr10 103995299 104132639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GBF1,PITX3 chr10 103995299 104132639 Gain and loss Pancreatic cancer SNP array 17952125 GBF1,PITX3 chr10 103995299 104132639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBF1,PITX3 chr10 104114587 104114666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBF1 chr10 104125001 104143500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GBF1 chr10 104129002 104129215 Gain Autism 1M Ailent CGH whole-genome array 21865298 GBF1 chr10 104129002 104129215 Loss Autism 1M Ailent CGH whole-genome array 21865298 GBF1 chr10 104143501 104175500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFKB2,PSD chr10 104144218 104152271 Copy number Lung cancer - 20668451 NOT_FOUND chr10 104144218 104152271 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 104144218 104152271 Gain or loss Cancer - 20668451 NOT_FOUND chr10 104144218 104152271 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 104144218 104152271 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 104144218 104152271 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 104144218 104152271 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 104144320 104152270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 104144329 104152271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 104144329 104152271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 104145888 104145988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 104152366 104169461 Gain and loss Pancreatic cancer SNP array 17952125 NFKB2,PSD chr10 104152366 104169681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFKB2,PSD chr10 104152366 104169681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFKB2,PSD chr10 104165090 104165190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PSD chr10 104169560 104172883 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PSD chr10 104169579 104172883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSD chr10 104169579 104172883 Gain and loss Pancreatic cancer SNP array 17952125 PSD chr10 104169579 104172883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSD chr10 104172300 105700203 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-651K arrays 21546498 ACTR1A,ARL3,AS3MT,C10orf32,C10orf32-AS3MT,C10orf95,CALHM1,CALHM2,CALHM3,CNNM2,CUEDC2,CYP17A1,FBXL15,INA,LOC100505761,LOC100505839,LOC729020,MIR1307,MIR146B,NEURL,NT5C2,OBFC1,PCGF6,PDCD11,PSD,SFXN2,SH3PXD2A,SUFU,TAF5,TMEM180,TRIM8,USMG5,WBP1L chr10 104172998 104182343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL15,PSD chr10 104172998 104182343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL15,PSD chr10 104173002 104182343 Gain and loss Pancreatic cancer SNP array 17952125 FBXL15,PSD chr10 104175501 104218500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf95,CUEDC2,FBXL15,LOC100505761,MIR146B,PSD chr10 104186259 104186331 Deletion Acute myeloid leukemia BAC aCGH 20962326 CUEDC2 chr10 104186259 104186331 Gain and loss Pancreatic cancer SNP array 17952125 CUEDC2 chr10 104186259 104186331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUEDC2 chr10 104199584 104201290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 104199584 104201290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 104199584 104201290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 104211160 104226790 Gain and loss Pancreatic cancer SNP array 17952125 C10orf95,LOC100505761,TMEM180 chr10 104211160 104226792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf95,LOC100505761,TMEM180 chr10 104211160 104226792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf95,LOC100505761,TMEM180 chr10 104218501 104235500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM180 chr10 104228977 104252452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTR1A,TMEM180 chr10 104228977 104252452 Gain and loss Pancreatic cancer SNP array 17952125 ACTR1A,TMEM180 chr10 104228977 104252452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR1A,TMEM180 chr10 104233279 104233311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM180 chr10 104253753 104383199 Gain or loss Breast cancer - 20668451 ACTR1A,SUFU chr10 104253753 104383199 Gain or loss Cancer - 20668451 ACTR1A,SUFU chr10 104253753 104383199 Gain or loss Lung cancer - 20668451 ACTR1A,SUFU chr10 104253753 104383199 Gain or loss Ovarian cancer - 20668451 ACTR1A,SUFU chr10 104253753 104383199 Gain or loss Pancreas cancer - 20668451 ACTR1A,SUFU chr10 104253753 104383199 Gain or loss Prostate cancer - 20668451 ACTR1A,SUFU chr10 104253754 104383199 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACTR1A,SUFU chr10 104253754 104383199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTR1A,SUFU chr10 104253754 104383199 Gain and loss Pancreatic cancer SNP array 17952125 ACTR1A,SUFU chr10 104253754 104383199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR1A,SUFU chr10 104275728 104275989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUFU chr10 104275734 104275993 Gain and loss Pancreatic cancer SNP array 17952125 SUFU chr10 104275734 104275993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUFU chr10 104282873 104282973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUFU chr10 104322504 104322972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUFU chr10 104341271 104341374 Gain and loss Pancreatic cancer SNP array 17952125 SUFU chr10 104341271 104341377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUFU chr10 104356838 104356921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUFU chr10 104363001 104429500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SUFU,TRIM8 chr10 104370463 104370552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUFU chr10 104394242 104408154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM8 chr10 104394242 104408154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM8 chr10 104394243 104408154 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIM8 chr10 104394356 104408064 Gain and loss Pancreatic cancer SNP array 17952125 TRIM8 chr10 104423477 104464180 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ARL3 chr10 104423480 104464180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL3 chr10 104423480 104464180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL3 chr10 104423480 104464180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL3 chr10 104423484 104464180 Gain and loss Pancreatic cancer SNP array 17952125 ARL3 chr10 104452888 104453156 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARL3 chr10 104464288 104488930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL3,SFXN2 chr10 104464288 104488930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL3,SFXN2 chr10 104464288 104488930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL3,SFXN2 chr10 104464288 104488932 Gain and loss Pancreatic cancer SNP array 17952125 ARL3,SFXN2 chr10 104478344 104479456 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SFXN2 chr10 10448081 10608856 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 104489113 104489237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFXN2 chr10 104493716 104581841 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SFXN2,WBP1L chr10 104495510 104495642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFXN2 chr10 104522274 104522582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WBP1L chr10 104525878 104565987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WBP1L chr10 104525878 104565987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WBP1L chr10 104525994 104565987 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WBP1L chr10 104525996 104565310 Gain and loss Pancreatic cancer SNP array 17952125 WBP1L chr10 104530452 104532925 Loss Normal 244K array 17666407 WBP1L chr10 104553676 104553773 Gain and loss Pancreatic cancer SNP array 17952125 WBP1L chr10 104553676 104553773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WBP1L chr10 104555463 104589277 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WBP1L chr10 104580282 104587168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 104580282 104587280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 104580282 104587280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 104582499 104584249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 104587758 104595220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP17A1 chr10 104595342 104595692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP17A1 chr10 1045978 1046055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GTPBP4 chr10 104603703 105545725 LOH Normal High-resolution SNP genotyping 21211785 AS3MT,C10orf32,C10orf32-AS3MT,CALHM1,CALHM2,CALHM3,CNNM2,INA,LOC100505839,LOC729020,MIR1307,NEURL,NT5C2,PCGF6,PDCD11,SH3PXD2A,TAF5,USMG5 chr10 104603703 106141789 LOH Normal High-resolution SNP genotyping 21211785 AS3MT,C10orf32,C10orf32-AS3MT,CALHM1,CALHM2,CALHM3,CCDC147,CNNM2,COL17A1,GSTO1,GSTO2,INA,ITPRIP,LOC100505839,LOC729020,MIR1307,MIR4482-1,MIR609,MIR936,NEURL,NT5C2,OBFC1,PCGF6,PDCD11,SFR1,SH3PXD2A,SLK,TAF5,USMG5,WDR96 chr10 104603970 104651641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AS3MT,C10orf32,C10orf32-AS3MT chr10 104603970 104651641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AS3MT,C10orf32,C10orf32-AS3MT chr10 104604009 104651643 Gain and loss Pancreatic cancer SNP array 17952125 AS3MT,C10orf32,C10orf32-AS3MT chr10 104607032 104607132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 104618168 104618264 Gain and loss Pancreatic cancer SNP array 17952125 C10orf32,C10orf32-AS3MT chr10 104618168 104618266 Gain and loss Pancreatic cancer SNP array 17952125 C10orf32,C10orf32-AS3MT chr10 104618168 104618266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf32,C10orf32-AS3MT chr10 104619200 104651646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AS3MT,C10orf32,C10orf32-AS3MT chr10 104619200 104651646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AS3MT,C10orf32,C10orf32-AS3MT chr10 104637621 104637935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AS3MT,C10orf32-AS3MT chr10 104668065 104828228 Gain and loss Pancreatic cancer SNP array 17952125 CNNM2 chr10 104668104 104828228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNNM2 chr10 104668104 104828228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNNM2 chr10 104679101 104679181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNNM2 chr10 1046993 1047078 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GTPBP4 chr10 104720360 104720495 Gain and loss Pancreatic cancer SNP array 17952125 CNNM2 chr10 104720360 104720495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNNM2 chr10 104734338 104735931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNNM2 chr10 104787120 104787178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNNM2 chr10 104797433 104797532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNNM2 chr10 104812020 104856666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNNM2,NT5C2 chr10 104837764 104943041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNNM2,NT5C2 chr10 104837764 104943041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNNM2,NT5C2 chr10 104837932 104943041 Gain and loss Pancreatic cancer SNP array 17952125 CNNM2,NT5C2 chr10 104874764 104875163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NT5C2 chr10 104900000 105700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CALHM1,CALHM2,CALHM3,INA,LOC100505839,LOC729020,MIR1307,NEURL,NT5C2,OBFC1,PCGF6,PDCD11,SH3PXD2A,TAF5,USMG5 chr10 104900000 105700000 Duplication Heart disease Illumina 622Quad Beadchip platform 21282601 CALHM1,CALHM2,CALHM3,INA,LOC100505839,LOC729020,MIR1307,NEURL,NT5C2,OBFC1,PCGF6,PDCD11,SH3PXD2A,TAF5,USMG5 chr10 104900000 105800000 Gain Basal cell lymphoma Array CGH 16317097 CALHM1,CALHM2,CALHM3,COL17A1,INA,LOC100505839,LOC729020,MIR1307,NEURL,NT5C2,OBFC1,PCGF6,PDCD11,SH3PXD2A,SLK,TAF5,USMG5 chr10 104900000 105800000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 CALHM1,CALHM2,CALHM3,COL17A1,INA,LOC100505839,LOC729020,MIR1307,NEURL,NT5C2,OBFC1,PCGF6,PDCD11,SH3PXD2A,SLK,TAF5,USMG5 chr10 104900000 119100000 Deletion Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 ABLIM1,ACSL5,ADD3,ADRA2A,ADRB1,AFAP1L2,ATRNL1,BBIP1,C10orf118,C10orf82,CALHM1,CALHM2,CALHM3,CASP7,CCDC147,CCDC172,COL17A1,DCLRE1A,DUSP5,ENO4,FAM160B1,GFRA1,GPAM,GSTO1,GSTO2,GUCY2GP,HABP2,HSPA12A,INA,ITPRIP,KCNK18,KIAA1598,LOC100505839,LOC100505933,LOC282997,LOC729020,MIR1307,MIR2110,MIR3663,MIR4295,MIR4482-1,MIR4483,MIR4680,MIR609,MIR936,MXI1,NEURL,NHLRC2,NRAP,NT5C2,OBFC1,PCGF6,PDCD11,PDCD4,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,RBM20,RNU6-53,RPL13AP6,SFR1,SH3PXD2A,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SORCS1,SORCS3,TAF5,TCF7L2,TDRD1,TECTB,TRUB1,USMG5,VAX1,VTI1A,VWA2,WDR96,XPNPEP1,ZDHHC6 chr10 104910195 105023374 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC729020,NT5C2 chr10 104925301 104925841 Gain and loss Pancreatic cancer SNP array 17952125 NT5C2 chr10 104925301 104925841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NT5C2 chr10 104965456 104966547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 104995744 104996430 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 104995744 104996430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 105026909 105040096 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 INA chr10 105026910 105040091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INA chr10 105026910 105040091 Gain and loss Pancreatic cancer SNP array 17952125 INA chr10 105026910 105040091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INA chr10 10502838 10514814 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 105040000 114640000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ACSL5,ADD3,ADRA2A,BBIP1,CALHM1,CALHM2,CALHM3,CCDC147,COL17A1,DUSP5,GPAM,GSTO1,GSTO2,GUCY2GP,INA,ITPRIP,LOC100505839,LOC100505933,LOC282997,MIR1307,MIR4295,MIR4482-1,MIR4680,MIR609,MIR936,MXI1,NEURL,OBFC1,PCGF6,PDCD11,PDCD4,RBM20,RNU6-53,RPL13AP6,SFR1,SH3PXD2A,SHOC2,SLK,SMC3,SMNDC1,SORCS1,SORCS3,TAF5,TECTB,USMG5,VTI1A,WDR96,XPNPEP1,ZDHHC6 chr10 105052542 105100881 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 PCGF6 chr10 105052542 105100881 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PCGF6 chr10 105052544 105100881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCGF6 chr10 105052544 105100881 Gain and loss Pancreatic cancer SNP array 17952125 PCGF6 chr10 105052544 105100881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCGF6 chr10 105062183 105062315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 105062183 105062315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 10507355 10507455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 105097005 105098614 Gain Autism 1M Ailent CGH whole-genome array 21865298 PCGF6 chr10 105117713 105138812 Deletion,duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 TAF5 chr10 105117714 105138808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF5 chr10 105117714 105138808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF5 chr10 105117714 105138810 Gain and loss Pancreatic cancer SNP array 17952125 TAF5 chr10 1051322 1051632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GTPBP4 chr10 105138788 105146213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF5 chr10 105138788 105146213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF5 chr10 105138801 105146230 Gain and loss Pancreatic cancer SNP array 17952125 TAF5 chr10 105138803 105146213 Deletion,duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 TAF5 chr10 105138803 105146213 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TAF5 chr10 105143910 105174469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1307,PDCD11,TAF5,USMG5 chr10 105144000 105144148 Deletion Acute myeloid leukemia BAC aCGH 20962326 TAF5 chr10 105144000 105144148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF5 chr10 105146401 105196009 Deletion,duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 MIR1307,PDCD11,TAF5,USMG5 chr10 105146402 105196009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR1307,PDCD11,TAF5,USMG5 chr10 105146449 105195463 Gain and loss Pancreatic cancer SNP array 17952125 MIR1307,PDCD11,TAF5,USMG5 chr10 105152898 105152898 Copy number Prostate cancer Illumina GA II sequencer 21307934 USMG5 chr10 105174591 105174691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDCD11 chr10 105179159 105179259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDCD11 chr10 105191001 105623500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CALHM1,CALHM2,CALHM3,LOC100505839,NEURL,PDCD11,SH3PXD2A chr10 105191572 105192965 Gain and loss Pancreatic cancer SNP array 17952125 PDCD11 chr10 10519642 10519742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 105196534 105202149 Gain and loss Pancreatic cancer SNP array 17952125 PDCD11 chr10 105196534 105202152 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PDCD11 chr10 105196534 105202650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDCD11 chr10 105196534 105202650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDCD11 chr10 105196536 105202065 Deletion,duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 PDCD11 chr10 105196536 105202648 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PDCD11 chr10 105198441 105198491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDCD11 chr10 105203134 105208635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALHM2,PDCD11 chr10 105203134 105208635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALHM2,PDCD11 chr10 105203144 105208635 Gain and loss Pancreatic cancer SNP array 17952125 CALHM2,PDCD11 chr10 105206827 105206927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CALHM2 chr10 105222550 105228987 Deletion,duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr10 105222568 105228987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 105222568 105228987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 105222568 105228987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 105243724 105342298 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NEURL chr10 105244037 105342293 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NEURL chr10 105244038 105342292 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NEURL chr10 105244038 105342292 Gain and loss Pancreatic cancer SNP array 17952125 NEURL chr10 105244038 105342292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEURL chr10 1052700 1052819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GTPBP4 chr10 105272800 105272846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEURL chr10 10533416 10533738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 105343776 105605154 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100505839,NEURL,SH3PXD2A chr10 105343776 105605154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100505839,NEURL,SH3PXD2A chr10 105343776 105605154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505839,NEURL,SH3PXD2A chr10 105343861 105344271 Gain and loss Pancreatic cancer SNP array 17952125 NEURL chr10 105349267 105551045 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505839,NEURL,SH3PXD2A chr10 105351027 105351073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEURL chr10 105376985 105408050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SH3PXD2A chr10 10539846 10539946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 105410386 105410486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3PXD2A chr10 105422906 105423011 Gain and loss Pancreatic cancer SNP array 17952125 SH3PXD2A chr10 105422906 105423013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3PXD2A chr10 105449590 105449651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3PXD2A chr10 105452133 106272692 LOH Normal High-resolution SNP genotyping 21211785 CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,LOC100505839,MIR4482-1,MIR609,MIR936,OBFC1,SFR1,SH3PXD2A,SLK,WDR96 chr10 1054847 1061799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTPBP4 chr10 1054847 1061799 Gain and loss Pancreatic cancer SNP array 17952125 GTPBP4 chr10 1054847 1061799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTPBP4 chr10 105495557 105495657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3PXD2A chr10 105496266 105496366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3PXD2A chr10 105505134 105518757 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100505839,SH3PXD2A chr10 105515023 107135674 LOH Normal High-resolution SNP genotyping 21211785 CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,LOC100505839,MIR4482-1,MIR609,MIR936,OBFC1,SFR1,SH3PXD2A,SLK,SORCS3,WDR96 chr10 105528702 107135674 LOH Normal High-resolution SNP genotyping 21211785 CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,MIR4482-1,MIR609,MIR936,OBFC1,SFR1,SH3PXD2A,SLK,SORCS3,WDR96 chr10 105545725 106074719 LOH Normal High-resolution SNP genotyping 21211785 COL17A1,GSTO1,GSTO2,ITPRIP,MIR4482-1,MIR609,MIR936,OBFC1,SFR1,SH3PXD2A,SLK,WDR96 chr10 105599401 105599475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3PXD2A chr10 105608154 105653441 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OBFC1,SH3PXD2A chr10 105627307 105668035 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 OBFC1 chr10 105629552 106354259 LOH Normal High-resolution SNP genotyping 21211785 CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,MIR4482-1,MIR609,MIR936,OBFC1,SFR1,SLK,WDR96 chr10 105629552 106381606 LOH Normal High-resolution SNP genotyping 21211785 CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,MIR4482-1,MIR609,MIR936,OBFC1,SFR1,SLK,WDR96 chr10 105632292 105667956 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OBFC1 chr10 105632292 105667956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OBFC1 chr10 105632292 105667956 Gain and loss Pancreatic cancer SNP array 17952125 OBFC1 chr10 105632292 105667956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OBFC1 chr10 105633811 105653446 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OBFC1 chr10 105634726 105742493 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 OBFC1,SLK chr10 105662841 105662941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OBFC1 chr10 105700000 111800000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ADD3,CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,LOC100505933,MIR4482-1,MIR609,MIR936,RNU6-53,SFR1,SLK,SORCS1,SORCS3,WDR96,XPNPEP1 chr10 105700000 111800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADD3,CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,LOC100505933,MIR4482-1,MIR609,MIR936,RNU6-53,SFR1,SLK,SORCS1,SORCS3,WDR96,XPNPEP1 chr10 105700000 111800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADD3,CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,LOC100505933,MIR4482-1,MIR609,MIR936,RNU6-53,SFR1,SLK,SORCS1,SORCS3,WDR96,XPNPEP1 chr10 105700000 111800000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ADD3,CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,LOC100505933,MIR4482-1,MIR609,MIR936,RNU6-53,SFR1,SLK,SORCS1,SORCS3,WDR96,XPNPEP1 chr10 105700000 114900000 Loss Myxofibrosarcoma Array CGH 16751306 ACSL5,ADD3,ADRA2A,BBIP1,CCDC147,COL17A1,DUSP5,GPAM,GSTO1,GSTO2,GUCY2GP,ITPRIP,LOC100505933,LOC282997,MIR4295,MIR4482-1,MIR4680,MIR609,MIR936,MXI1,PDCD4,RBM20,RNU6-53,RPL13AP6,SFR1,SHOC2,SLK,SMC3,SMNDC1,SORCS1,SORCS3,TCF7L2,TECTB,VTI1A,WDR96,XPNPEP1,ZDHHC6 chr10 105700000 119100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABLIM1,ACSL5,ADD3,ADRA2A,ADRB1,AFAP1L2,ATRNL1,BBIP1,C10orf118,C10orf82,CASP7,CCDC147,CCDC172,COL17A1,DCLRE1A,DUSP5,ENO4,FAM160B1,GFRA1,GPAM,GSTO1,GSTO2,GUCY2GP,HABP2,HSPA12A,ITPRIP,KCNK18,KIAA1598,LOC100505933,LOC282997,MIR2110,MIR3663,MIR4295,MIR4482-1,MIR4483,MIR4680,MIR609,MIR936,MXI1,NHLRC2,NRAP,PDCD4,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,RBM20,RNU6-53,RPL13AP6,SFR1,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SORCS1,SORCS3,TCF7L2,TDRD1,TECTB,TRUB1,VAX1,VTI1A,VWA2,WDR96,XPNPEP1,ZDHHC6 chr10 105700000 135374737 Copy number Breast cancer - 16397240 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CLRN3,COL17A1,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,ITPRIP,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6,ZNF511,ZRANB1 chr10 105700000 135374737 Deletion Medulloblastoma SNP arrays 21979893 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CLRN3,COL17A1,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,ITPRIP,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6,ZNF511,ZRANB1 chr10 105700000 135374737 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CLRN3,COL17A1,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,ITPRIP,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6,ZNF511,ZRANB1 chr10 105700000 135374737 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CLRN3,COL17A1,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,ITPRIP,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6,ZNF511,ZRANB1 chr10 105700000 135374737 Loss Glioblastoma multiforme conventional CGH 21080181 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CLRN3,COL17A1,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,ITPRIP,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6,ZNF511,ZRANB1 chr10 105700000 135374737 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CLRN3,COL17A1,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,ITPRIP,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6,ZNF511,ZRANB1 chr10 105709333 124981616 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ABLIM1,ACADSB,ACSL5,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BTBD16,BUB3,C10orf118,C10orf120,C10orf82,C10orf88,CACUL1,CASC2,CASP7,CCDC147,CCDC172,COL17A1,CUZD1,DCLRE1A,DMBT1,DUSP5,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FGFR2,FLJ46361,GFRA1,GPAM,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5F,ITPRIP,KCNK18,KIAA1598,LOC100505933,LOC282997,LOC399815,MCMBP,MIR2110,MIR3663,MIR3941,MIR4295,MIR4482-1,MIR4483,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MXI1,NANOS1,NHLRC2,NRAP,NSMCE4A,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PRDX3,PRLHR,PSTK,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SLK,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,TACC2,TCF7L2,TDRD1,TECTB,TIAL1,TRUB1,VAX1,VTI1A,VWA2,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6 chr10 105716983 105777332 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLK chr10 105716983 105777332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLK chr10 105716983 105777332 Gain and loss Pancreatic cancer SNP array 17952125 SLK chr10 105716983 105777332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLK chr10 105717459 105777332 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 SLK chr10 105723228 105782354 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLK chr10 105726300 111829100 Loss Prostate cancer Array CGH 18632612 ADD3,CCDC147,COL17A1,GSTO1,GSTO2,ITPRIP,LOC100505933,MIR4482-1,MIR609,MIR936,RNU6-53,SFR1,SLK,SORCS1,SORCS3,WDR96,XPNPEP1 chr10 105732834 105763460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLK chr10 105736100 105736175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLK chr10 105781036 105835619 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COL17A1,MIR936,SLK chr10 105781036 105835619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL17A1,MIR936,SLK chr10 105781036 105835619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL17A1,MIR936,SLK chr10 105781036 105835628 Gain and loss Pancreatic cancer SNP array 17952125 COL17A1,MIR936,SLK chr10 105784657 105784757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLK chr10 105794588 105794670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL17A1 chr10 105797837 105797934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL17A1 chr10 105800000 114900000 Loss and deletion Multiple myeloma Array CGH 16616336 ACSL5,ADD3,ADRA2A,BBIP1,CCDC147,COL17A1,DUSP5,GPAM,GSTO1,GSTO2,GUCY2GP,ITPRIP,LOC100505933,LOC282997,MIR4295,MIR4482-1,MIR4680,MIR609,MIR936,MXI1,PDCD4,RBM20,RNU6-53,RPL13AP6,SFR1,SHOC2,SMC3,SMNDC1,SORCS1,SORCS3,TCF7L2,TECTB,VTI1A,WDR96,XPNPEP1,ZDHHC6 chr10 105800000 119100000 Copy number Chronic lymphocytic leukemia References 18645599 ABLIM1,ACSL5,ADD3,ADRA2A,ADRB1,AFAP1L2,ATRNL1,BBIP1,C10orf118,C10orf82,CASP7,CCDC147,CCDC172,COL17A1,DCLRE1A,DUSP5,ENO4,FAM160B1,GFRA1,GPAM,GSTO1,GSTO2,GUCY2GP,HABP2,HSPA12A,ITPRIP,KCNK18,KIAA1598,LOC100505933,LOC282997,MIR2110,MIR3663,MIR4295,MIR4482-1,MIR4483,MIR4680,MIR609,MIR936,MXI1,NHLRC2,NRAP,PDCD4,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,RBM20,RNU6-53,RPL13AP6,SFR1,SHOC2,SLC18A2,SMC3,SMNDC1,SORCS1,SORCS3,TCF7L2,TDRD1,TECTB,TRUB1,VAX1,VTI1A,VWA2,WDR96,XPNPEP1,ZDHHC6 chr10 105800000 121700000 Loss Basal cell lymphoma Array CGH 16317097 ABLIM1,ACSL5,ADD3,ADRA2A,ADRB1,AFAP1L2,ATRNL1,BAG3,BBIP1,C10orf118,C10orf82,CACUL1,CASC2,CASP7,CCDC147,CCDC172,COL17A1,DCLRE1A,DUSP5,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM204A,FAM45A,FAM45B,GFRA1,GPAM,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HSPA12A,INPP5F,ITPRIP,KCNK18,KIAA1598,LOC100505933,LOC282997,MCMBP,MIR2110,MIR3663,MIR4295,MIR4482-1,MIR4483,MIR4680,MIR4681,MIR609,MIR936,MXI1,NANOS1,NHLRC2,NRAP,PDCD4,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PRDX3,PRLHR,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,TCF7L2,TDRD1,TECTB,TIAL1,TRUB1,VAX1,VTI1A,VWA2,WDR96,XPNPEP1,ZDHHC6 chr10 105800000 121700000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ABLIM1,ACSL5,ADD3,ADRA2A,ADRB1,AFAP1L2,ATRNL1,BAG3,BBIP1,C10orf118,C10orf82,CACUL1,CASC2,CASP7,CCDC147,CCDC172,COL17A1,DCLRE1A,DUSP5,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM204A,FAM45A,FAM45B,GFRA1,GPAM,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HSPA12A,INPP5F,ITPRIP,KCNK18,KIAA1598,LOC100505933,LOC282997,MCMBP,MIR2110,MIR3663,MIR4295,MIR4482-1,MIR4483,MIR4680,MIR4681,MIR609,MIR936,MXI1,NANOS1,NHLRC2,NRAP,PDCD4,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PRDX3,PRLHR,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,TCF7L2,TDRD1,TECTB,TIAL1,TRUB1,VAX1,VTI1A,VWA2,WDR96,XPNPEP1,ZDHHC6 chr10 105800000 135534747 Amplification Hepatocellular carcinoma Array CGH 16750200 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CLRN3,COL17A1,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FRG2B,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,ITPRIP,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MIR609,MIR936,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFR1,SFXN4,SHOC2,SLC18A2,SMC3,SMNDC1,SNORA19,SORCS1,SORCS3,SPRN,SPRNP1,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,WDR96,XPNPEP1,ZDHHC6,ZNF511,ZRANB1 chr10 105817197 105817428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL17A1 chr10 105829416 105829650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL17A1 chr10 1058576 1080141 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GTPBP4,IDI2,IDI2-AS1 chr10 1058600 1080141 Gain and loss Pancreatic cancer SNP array 17952125 GTPBP4,IDI2,IDI2-AS1 chr10 105861799 105861899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 105871806 105876130 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 105871806 105876130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 105871806 105876130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 105871937 105876130 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 105879635 105982110 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MIR609,SFR1,WDR96 chr10 105879636 105982110 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR609,SFR1,WDR96 chr10 105879636 105982110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR609,SFR1,WDR96 chr10 105879636 105982110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR609,SFR1,WDR96 chr10 105879637 105982110 Gain and loss Pancreatic cancer SNP array 17952125 MIR609,SFR1,WDR96 chr10 105887254 105887354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 105968537 105968631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR96 chr10 105979637 106003319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR96 chr10 106004531 106017201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GSTO1 chr10 106004531 106017201 Gain and loss Pancreatic cancer SNP array 17952125 GSTO1 chr10 106004651 106017201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSTO1 chr10 106004651 106017201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSTO1 chr10 10600701 11587400 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELF2,LOC254312,LOC439950,SFTA1P,USP6NL chr10 106018620 106049166 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GSTO1,GSTO2,MIR4482-1 chr10 106018621 106049165 Gain and loss Pancreatic cancer SNP array 17952125 GSTO1,GSTO2,MIR4482-1 chr10 106018621 106049166 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GSTO1,GSTO2,MIR4482-1 chr10 106018621 106049166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSTO1,GSTO2,MIR4482-1 chr10 106018621 106049166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSTO1,GSTO2,MIR4482-1 chr10 106061884 106088152 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITPRIP chr10 106061884 106088152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPRIP chr10 106061884 106088152 Gain and loss Pancreatic cancer SNP array 17952125 ITPRIP chr10 106061884 106088152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPRIP chr10 106080777 109034861 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC147,ITPRIP,SORCS1,SORCS3 chr10 106097982 106204855 Gain and loss Pancreatic cancer SNP array 17952125 CCDC147 chr10 106103513 106204855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC147 chr10 106103513 106204855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC147 chr10 106103513 106204855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC147 chr10 10610586 10610636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 106246292 106246363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 106262776 106308499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 106285949 106286010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 106310000 115180000 Loss Breast cancer aCGH 21509527 ACSL5,ADD3,ADRA2A,BBIP1,DUSP5,GPAM,GUCY2GP,LOC100505933,LOC282997,MIR4295,MIR4680,MXI1,PDCD4,RBM20,RNU6-53,RPL13AP6,SHOC2,SMC3,SMNDC1,SORCS1,SORCS3,TCF7L2,TECTB,VTI1A,XPNPEP1,ZDHHC6 chr10 106341318 106341404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 10638667 10638767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 106390848 107014983 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SORCS3 chr10 106391076 107013122 Gain and loss Pancreatic cancer SNP array 17952125 SORCS3 chr10 106391076 107014983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORCS3 chr10 106391076 107014983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORCS3 chr10 106400402 106400467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 106410787 106410823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106417556 115249096 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSL5,ADD3,ADRA2A,BBIP1,DUSP5,GPAM,GUCY2GP,LOC100505933,LOC282997,MIR4295,MIR4680,MXI1,PDCD4,RBM20,RNU6-53,RPL13AP6,SHOC2,SMC3,SMNDC1,SORCS1,SORCS3,TCF7L2,TECTB,VTI1A,XPNPEP1,ZDHHC6 chr10 106422812 106422907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106440385 106449343 Loss Normal Birdsuite, version 1.5.2 22087296 SORCS3 chr10 106450745 106450845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106460537 106460637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106475977 106476077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106566767 106566867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106566885 106567100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 1065777 3254644 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADARB2,ADARB2-AS1,IDI1,IDI2,IDI2-AS1,LINC00200,LOC100507034,LOC282980,LOC399708,PFKP,PITRM1,WDR37 chr10 1065777 3975194 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADARB2,ADARB2-AS1,IDI1,IDI2,IDI2-AS1,KLF6,LINC00200,LOC100507034,LOC282980,LOC399708,PFKP,PITRM1,WDR37 chr10 106670492 106670636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106735122 106769634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORCS3 chr10 106792524 106792624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106824972 106825072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106853863 106853963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106855272 106855469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106855477 106855681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106855945 106907237 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 SORCS3 chr10 106865583 106865683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 1069499 1091700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IDI1,IDI2,IDI2-AS1 chr10 106960623 107787076 LOH Normal High-resolution SNP genotyping 21211785 SORCS3 chr10 106988941 106989041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 106992433 106992533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS3 chr10 107025599 107026738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107047028 107049160 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 107051910 107052010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107089900 107306982 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 107093225 107306521 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr10 10710179 11722402 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CELF2,LOC254312,LOC439950,SFTA1P,USP6NL chr10 107203946 107204666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107226286 107226386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107242989 107243341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107266402 107266497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107284407 107284513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 107284407 107284513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 10730322 10730422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 1073082 68672493 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 A1CF,ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,ADO,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALOX5,ANK3,ANKRD16,ANKRD26,ANKRD30A,ANXA2P3,ANXA8,ANXA8L1,ANXA8L2,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARID5B,ARL5B,ARMC3,ARMC4,ASAH2,ASAH2B,ASB13,ATP5C1,BAMBI,BEND7,BICC1,BMI1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf107,C10orf111,C10orf113,C10orf114,C10orf128,C10orf25,C10orf40,C10orf47,C10orf53,C10orf67,C10orf68,C10orf71,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC6,CCDC7,CCNY,CDC123,CDK1,CDNF,CELF2,CHAT,CISD1,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CSTF2T,CTNNA3,CTSL1P2,CUBN,CUL2,CXCL12,DCLRE1C,DHTKD1,DKK1,DNAJC1,DRGX,EBLN1,ECHDC3,EGR2,ENKUR,EPC1,ERCC6,FAM107B,FAM133CP,FAM13C,FAM170B,FAM171A1,FAM188A,FAM208B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FBXO18,FLJ31813,FLJ45983,FRMD4A,FRMPD2,FRMPD2P1,FXYD4,FZD8,GAD2,GATA3,GDF10,GDF2,GDI2,GJD4,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,HNRNPA3P1,HNRNPF,HSD17B7P2,HSPA14,IDI1,IDI2-AS1,IL15RA,IL2RA,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,JMJD1C,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LINC00200,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283033,LOC283070,LOC338579,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC399753,LOC439949,LOC439950,LOC441666,LOC643650,LOC728407,LOC728643,LOC731789,LOC84856,LOC84989,LRRC18,LRRC37A6P,LYZL1,LYZL2,M1,MAP3K8,MAPK8,MARCH8,MASTL,MBL2,MCM10,MEIG1,MIR1265,MIR1296,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR3924,MIR4294,MIR4480,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR603,MIR604,MIR605,MIR938,MKX,MLLT10,MPP7,MRC1,MSMB,MSRB2,MTPAP,MTRNR2L5,MTRNR2L7,MYO3A,NCOA4,NEBL,NET1,NMT2,NRBF2,NRP1,NSUN6,NUDT5,OGDHL,OLAH,OPTN,OR13A1,OTUD1,PARD3,PARG,PCDH15,PDSS1,PFKFB3,PFKP,PGBD3,PHYH,PHYHIPL,PIP4K2A,PITRM1,PLXDC2,PPYR1,PRKCQ,PRKG1,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBM17,RBP3,REEP3,RET,RHOBTB1,RPP38,RSU1,RSU1P2,RTKN2,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SGMS1,SKIDA1,SLC16A9,SLC18A3,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,SYT15,TAF3,TAKR,TFAM,THNSL1,TIMM23,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TRDMT1,TUBAL3,UBE2D1,UCMA,UCN3,UPF2,USP6NL,VIM,VSTM4,WAC,WDFY4,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZWINT chr10 107357092 107357192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107395891 111089960 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 RNU6-53,SORCS1 chr10 107435131 107435613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 107435954 107436806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 107436070 107436806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 107474839 107474939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 10748542 10748858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107519652 107743529 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 107589284 107743529 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 107589284 107743529 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 1075966 1085061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IDI2-AS1 chr10 1075966 1085061 Gain and loss Pancreatic cancer SNP array 17952125 IDI2-AS1 chr10 1075966 1085061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IDI2-AS1 chr10 107602047 107608111 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 107663382 107695259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 107667534 107667858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107688677 107689220 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107761235 111047380 Loss Prostate cancer Array CGH 18632612 RNU6-53,SORCS1 chr10 107794099 107794199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107832567 107832801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107835090 107881534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107878032 107878174 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107891319 107891562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107891437 107891561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107891547 107891798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107891557 107891666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107902078 108019346 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr10 107938501 107943500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 107940673 107941585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 107942183 107946708 Gain Normal 244K array 17666407 NOT_FOUND chr10 107974310 108006360 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 10798519 10798619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 107985893 107988478 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 107987177 107987282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 108020303 108022518 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 108020308 108022531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 108033714 127546546 Copy number Lung cancer paired-end sequencing 18438408 ABLIM1,ACADSB,ACSL5,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,CACUL1,CASC2,CASP7,CCDC172,CHST15,CPXM2,CTBP2,CUZD1,DCLRE1A,DHX32,DMBT1,DUSP5,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FGFR2,FLJ37035,FLJ46361,GFRA1,GPAM,GPR26,GRK5,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5F,KCNK18,KIAA1598,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC399815,MCMBP,METTL10,MIR2110,MIR3663,MIR3941,MIR4295,MIR4296,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MMP21,MXI1,NANOS1,NHLRC2,NKX1-2,NRAP,NSMCE4A,OAT,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PRDX3,PRLHR,PSTK,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFXN4,SHOC2,SLC18A2,SMC3,SMNDC1,SNORA19,SORCS1,TACC2,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,UROS,VAX1,VTI1A,VWA2,WDR11,WDR11-AS1,XPNPEP1,ZDHHC6,ZRANB1 chr10 1080901 1085000 Deletion Glioma mate-paired sequence 20126413 IDI2-AS1 chr10 108109963 108117171 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 108165938 109275992 Loss Barrett's syndrome BAC array 19417022 SORCS1 chr10 108184857 108184946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108269067 108269167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108288338 108288438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108299845 108300229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 108299845 108300867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 108323411 108914274 Gain and loss Pancreatic cancer SNP array 17952125 SORCS1 chr10 108323419 108914274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORCS1 chr10 108323419 108914274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORCS1 chr10 108357233 108390617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORCS1 chr10 108372665 108372741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 108438254 108472507 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORCS1 chr10 108439997 108440097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 108457214 108457309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 108462768 108462868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 108525824 108525859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 1085478 1168237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IDI1,IDI2-AS1,WDR37 chr10 1085478 1168237 Gain and loss Pancreatic cancer SNP array 17952125 IDI1,IDI2-AS1,WDR37 chr10 1085478 1168237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IDI1,IDI2-AS1,WDR37 chr10 10858192 10858630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 108614308 108614408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 108618849 108644346 Loss Normal Birdsuite, version 1.5.2 22087296 SORCS1 chr10 10869629 10869729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108719769 108719888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORCS1 chr10 108719770 108719858 Gain and loss Pancreatic cancer SNP array 17952125 SORCS1 chr10 108719773 108719871 Gain and loss Pancreatic cancer SNP array 17952125 SORCS1 chr10 108800001 108816588 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORCS1 chr10 108886620 108886720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 108906203 108906277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 108914764 108914864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORCS1 chr10 108948760 108948860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108954534 111745117 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC100505933,RNU6-53,XPNPEP1 chr10 108991080 108991281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108991176 108991276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108991270 108991484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108991291 108991391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 108996368 108996468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109003962 109004032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109020405 109020494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109092539 133471230 Loss Barrett's syndrome BAC array 19417022 ABLIM1,ACADSB,ACSL5,ADAM12,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,CACUL1,CASC2,CASP7,CCDC172,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,DCLRE1A,DHX32,DMBT1,DOCK1,DUSP5,EBF3,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46361,FOXI2,GFRA1,GLRX3,GPAM,GPR26,GRK5,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5F,KCNK18,KIAA1598,LHPP,LOC100169752,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,MCMBP,METTL10,MGMT,MIR2110,MIR3663,MIR378C,MIR3941,MIR4295,MIR4296,MIR4297,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MXI1,NANOS1,NHLRC2,NKX1-2,NPS,NRAP,NSMCE4A,OAT,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PRDX3,PRLHR,PSTK,PTPRE,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,SEC23IP,SFXN4,SHOC2,SLC18A2,SMC3,SMNDC1,SNORA19,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,UROS,VAX1,VTI1A,VWA2,WDR11,WDR11-AS1,XPNPEP1,ZDHHC6,ZRANB1 chr10 109103785 111091495 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RNU6-53 chr10 109137419 109137554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109171512 109171578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 10917804 10917904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109211308 109211417 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 109211308 109211417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 109211309 109211397 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 109267103 109267203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109295032 109295064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109347165 109347249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109347503 109347602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 10945540 10945629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 10952891 11763622 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CELF2,LOC254312,LOC439950,USP6NL chr10 109555789 109555889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109558893 109558993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109572348 109572429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109616820 109616877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 109624806 109624956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109628476 109629682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 109663821 109663921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109674684 109674772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109678564 109678644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109718748 109719117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 109731479 109731579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109732617 109732711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109832519 109840926 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 109893981 109894060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109919396 109919486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109953452 109953602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 109993940 110101965 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 110012660 110012760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110045847 110046241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 1 1007955 LOH Normal High-resolution SNP genotyping 21211785 C10orf108,DIP2C,LARP4B,MIR5699,TUBB8,ZMYND11 chr10 110119850 110154022 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 110145804 110145904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 11021045 11021168 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 110240000 112960000 Deletion Sezary syndrome Array-based CGH 18413736 ADD3,ADRA2A,BBIP1,DUSP5,LOC100505933,LOC282997,MIR4680,MXI1,PDCD4,RBM20,RNU6-53,RPL13AP6,SHOC2,SMC3,SMNDC1,XPNPEP1 chr10 110292844 110304714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 110312582 110312682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 1 1042949 Deletion Cancer Affymetrix 250K Sty array 20164920 C10orf108,DIP2C,GTPBP4,LARP4B,MIR5699,TUBB8,ZMYND11 chr10 11043266 11043341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110445597 110445697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110446237 110446337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110448977 110633486 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 110565608 110565708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110597934 110599309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 110599401 110599501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110610799 110610867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110620360 110620442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110624905 110624985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110674072 110674172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110690734 110691058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 110690821 110691058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 110690821 110691058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 110706738 110707033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 110736998 110737098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 110759543 110820852 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 110772872 110772999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 110889374 110889450 Deletion Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr10 110906889 110909341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 110928370 110952208 Gain Normal 244K array 17666407 RNU6-53 chr10 110934629 110934755 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-53 chr10 110934678 110934755 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-53 chr10 110939015 110964145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RNU6-53 chr10 110939179 110959204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RNU6-53 chr10 110989387 110989493 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-53 chr10 110989387 110989494 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-53 chr10 110989387 110989494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU6-53 chr10 11099933 11413251 Gain and loss Pancreatic cancer SNP array 17952125 CELF2,LOC439950 chr10 11099933 11509495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELF2,LOC439950,USP6NL chr10 11099933 11509495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF2,LOC439950,USP6NL chr10 111026368 111026687 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 111056606 111056706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 111109292 111144556 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 111195021 111323778 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr10 111269072 111269172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 111277867 111278756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 111284403 111284738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 111351007 111385125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 111375419 111375519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 111378522 111378622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 11142861 11176316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CELF2,LOC439950 chr10 11147145 11147240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF2,LOC439950 chr10 11150202 11151804 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CELF2 chr10 11151805 11236375 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CELF2 chr10 111552677 111575662 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 111553405 111571106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 111557399 111557877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 111557634 111557869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 111557772 111582774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 111560101 111570100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 111560238 111570345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 111560592 111587679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 111560742 111570361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 111562101 111568206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 111608945 111609019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 111614514 111673206 Gain and loss Pancreatic cancer SNP array 17952125 XPNPEP1 chr10 111614514 111673259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPNPEP1 chr10 111614514 111673259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPNPEP1 chr10 111619606 111619672 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 111619606 111619754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 111624729 111624819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPNPEP1 chr10 111625618 111625708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPNPEP1 chr10 111658017 111658102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPNPEP1 chr10 111691019 111755788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505933 chr10 111712931 111713031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100505933 chr10 111728269 111773528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADD3,LOC100505933 chr10 111746097 111885313 Deletion 9q deletion syndrome FISH 16826528 ADD3,LOC100505933 chr10 111746097 111885313 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 ADD3,LOC100505933 chr10 111746097 111885313 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 ADD3,LOC100505933 chr10 111755716 111885310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADD3,LOC100505933 chr10 111755716 111885310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADD3,LOC100505933 chr10 111755794 111885313 Gain and loss Pancreatic cancer SNP array 17952125 ADD3,LOC100505933 chr10 111769512 111769612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADD3 chr10 111771705 112262488 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADD3,DUSP5,MXI1,SMNDC1 chr10 111772000 111850000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 ADD3 chr10 111800000 114900000 Copy number Cornelia de Lange syndrome high-resolution SNP arrays 21085971 ACSL5,ADD3,ADRA2A,BBIP1,DUSP5,GPAM,GUCY2GP,LOC282997,MIR4295,MIR4680,MXI1,PDCD4,RBM20,RPL13AP6,SHOC2,SMC3,SMNDC1,TCF7L2,TECTB,VTI1A,ZDHHC6 chr10 111800000 114900000 Copy number Normal - 21701786 ACSL5,ADD3,ADRA2A,BBIP1,DUSP5,GPAM,GUCY2GP,LOC282997,MIR4295,MIR4680,MXI1,PDCD4,RBM20,RPL13AP6,SHOC2,SMC3,SMNDC1,TCF7L2,TECTB,VTI1A,ZDHHC6 chr10 111800000 114900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSL5,ADD3,ADRA2A,BBIP1,DUSP5,GPAM,GUCY2GP,LOC282997,MIR4295,MIR4680,MXI1,PDCD4,RBM20,RPL13AP6,SHOC2,SMC3,SMNDC1,TCF7L2,TECTB,VTI1A,ZDHHC6 chr10 111800000 135374737 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC172,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RPL13AP6,SEC23IP,SFXN4,SHOC2,SLC18A2,SMC3,SMNDC1,SNORA19,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,ZDHHC6,ZNF511,ZRANB1 chr10 111824569 135311386 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABLIM1,ACADSB,ACSL5,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BBIP1,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC172,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GFRA1,GLRX3,GPAM,GPR123,GPR26,GRK5,GUCY2GP,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,MXI1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDCD4,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RBM20,RGS10,RPL13AP6,SEC23IP,SFXN4,SHOC2,SLC18A2,SMC3,SMNDC1,SNORA19,SPRN,STK32C,TACC2,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VTI1A,VWA2,WDR11,WDR11-AS1,ZDHHC6,ZNF511,ZRANB1 chr10 111888962 111889174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADD3 chr10 111900000 121700000 Loss Prostate cancer Array CGH 16573809 ABLIM1,ACSL5,ADRA2A,ADRB1,AFAP1L2,ATRNL1,BAG3,BBIP1,C10orf118,C10orf82,CACUL1,CASC2,CASP7,CCDC172,DCLRE1A,DUSP5,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM204A,FAM45A,FAM45B,GFRA1,GPAM,GRK5,GUCY2GP,HABP2,HSPA12A,INPP5F,KCNK18,KIAA1598,LOC282997,MCMBP,MIR2110,MIR3663,MIR4295,MIR4483,MIR4680,MIR4681,MXI1,NANOS1,NHLRC2,NRAP,PDCD4,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PRDX3,PRLHR,RAB11FIP2,RBM20,RGS10,RPL13AP6,SEC23IP,SFXN4,SHOC2,SLC18A2,SMC3,SMNDC1,SNORA19,TCF7L2,TDRD1,TECTB,TIAL1,TRUB1,VAX1,VTI1A,VWA2,ZDHHC6 chr10 111911959 111912038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 111957353 112037108 Gain and loss Pancreatic cancer SNP array 17952125 MXI1 chr10 111957353 112037113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MXI1 chr10 111957353 112037113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MXI1 chr10 111993155 111993255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MXI1 chr10 112006812 112007591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MXI1 chr10 112010610 112010746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MXI1 chr10 112042789 112054687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MXI1,SMNDC1 chr10 112042789 112054687 Gain and loss Pancreatic cancer SNP array 17952125 MXI1,SMNDC1 chr10 112042789 112054687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MXI1,SMNDC1 chr10 112127699 112127799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112135684 112135759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112151225 112151317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112168638 112168727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 1121739 11254382 Copy number Autism exome sequencing 22495311 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,CALML3,CALML5,CELF2,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC254312,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MIR3155A,MIR3155B,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,SFMBT2,SFTA1P,TAF3,TAKR,TUBAL3,UCN3,WDR37 chr10 112179452 112179552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112183989 112184133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 1 12200000 Loss Autism References 18414403 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,C10orf108,C10orf47,CALML3,CALML5,CELF2,DHTKD1,DIP2C,ECHDC3,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,SEC61A2,SFMBT2,SFTA1P,TAF3,TAKR,TUBAL3,TUBB8,UCN3,UPF2,USP6NL,WDR37,ZMYND11 chr10 112200377 112200988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 112247614 112261292 Gain or loss Breast cancer - 20668451 DUSP5 chr10 112247614 112261292 Gain or loss Cancer - 20668451 DUSP5 chr10 112247614 112261292 Gain or loss Lung cancer - 20668451 DUSP5 chr10 112247614 112261292 Gain or loss Ovarian cancer - 20668451 DUSP5 chr10 112247614 112261292 Gain or loss Pancreas cancer - 20668451 DUSP5 chr10 112247614 112261292 Gain or loss Prostate cancer - 20668451 DUSP5 chr10 112247615 112261291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP5 chr10 112247615 112261291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP5 chr10 112247666 112261285 Gain and loss Pancreatic cancer SNP array 17952125 DUSP5 chr10 112252959 112253059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112272074 112272109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112299863 112300602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 112299863 112300602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 1 12300000 Deletion Malignant melanoma quantitative Fluorescence in Situ Hybridization (FISH) 18718029 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,C10orf108,C10orf47,CALML3,CALML5,CDC123,CELF2,DHTKD1,DIP2C,ECHDC3,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MIR3155A,MIR3155B,MIR5699,NET1,NUDT5,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,SEC61A2,SFMBT2,SFTA1P,TAF3,TAKR,TUBAL3,TUBB8,UCN3,UPF2,USP6NL,WDR37,ZMYND11 chr10 1 12300000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,C10orf108,C10orf47,CALML3,CALML5,CDC123,CELF2,DHTKD1,DIP2C,ECHDC3,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MIR3155A,MIR3155B,MIR5699,NET1,NUDT5,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,SEC61A2,SFMBT2,SFTA1P,TAF3,TAKR,TUBAL3,TUBB8,UCN3,UPF2,USP6NL,WDR37,ZMYND11 chr10 112317439 112354380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMC3 chr10 112317439 112354380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMC3 chr10 112317474 112354380 Gain and loss Pancreatic cancer SNP array 17952125 SMC3 chr10 112326109 112326208 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 112326109 112326208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 112373403 112374403 Gain Osteosarcoma References 21215367 NOT_FOUND chr10 112373452 112374452 Loss Osteosarcoma References 21215367 NOT_FOUND chr10 11238042 11238142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF2 chr10 112392426 112392533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 112392426 112392533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 112392430 112392533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 112394203 112530825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM20 chr10 112461522 114123313 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADRA2A,BBIP1,GPAM,GUCY2GP,LOC282997,MIR4680,PDCD4,RBM20,RPL13AP6,SHOC2,TECTB chr10 112467400 112483715 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBM20 chr10 112470386 112470438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBM20 chr10 112509560 112509660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM20 chr10 112510064 112510164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM20 chr10 112510890 112510992 Gain and loss Pancreatic cancer SNP array 17952125 RBM20 chr10 112510890 112511008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM20 chr10 112510891 112511003 Gain and loss Pancreatic cancer SNP array 17952125 RBM20 chr10 112531297 112533175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM20 chr10 11254277 11254377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF2 chr10 112544093 112544193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM20 chr10 112547256 112589216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM20 chr10 112547256 112589216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM20 chr10 112612365 112612457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112618107 112649753 Gain and loss Pancreatic cancer SNP array 17952125 LOC282997,PDCD4 chr10 112618433 112618533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112621586 112649753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC282997,PDCD4 chr10 112621586 112649753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC282997,PDCD4 chr10 112649054 112680498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BBIP1,MIR4680,PDCD4,SHOC2 chr10 112650120 112668934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BBIP1,MIR4680,PDCD4 chr10 11266604 11266704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF2 chr10 112669356 112763413 Gain or loss Breast cancer - 20668451 BBIP1,RPL13AP6,SHOC2 chr10 112669356 112763413 Gain or loss Cancer - 20668451 BBIP1,RPL13AP6,SHOC2 chr10 112669356 112763413 Gain or loss Lung cancer - 20668451 BBIP1,RPL13AP6,SHOC2 chr10 112669356 112763413 Gain or loss Ovarian cancer - 20668451 BBIP1,RPL13AP6,SHOC2 chr10 112669356 112763413 Gain or loss Pancreas cancer - 20668451 BBIP1,RPL13AP6,SHOC2 chr10 112669356 112763413 Gain or loss Prostate cancer - 20668451 BBIP1,RPL13AP6,SHOC2 chr10 112669357 112763412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BBIP1,RPL13AP6,SHOC2 chr10 112669357 112763412 Gain and loss Pancreatic cancer SNP array 17952125 BBIP1,RPL13AP6,SHOC2 chr10 112669357 112763412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BBIP1,RPL13AP6,SHOC2 chr10 112686370 112686981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHOC2 chr10 112686370 112686981 Gain and loss Pancreatic cancer SNP array 17952125 SHOC2 chr10 112686370 112686981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHOC2 chr10 11271373 112763413 Copy number Autism exome sequencing 22495311 A1CF,ABCC2,ABI1,ACBD5,ACBD7,ACTA2,ACTR1A,ACTR3BP5,ADAMTS14,ADD3,ADK,ADO,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATOH7,AVPI1,BAMBI,BBIP1,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BTAF1,BTRC,C10orf10,C10orf105,C10orf107,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf12,C10orf128,C10orf129,C10orf131,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf95,C10orf99,C1QL3,CACNB2,CALHM1,CALHM2,CALHM3,CAMK1D,CAMK2G,CC2D2B,CCAR1,CCDC147,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST3,CHUK,CISD1,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DKK1,DLG5,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DPCD,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBLN1,ECD,ECHDC3,EGR2,EIF4EBP2,EIF5AL1,ELOVL3,ENKUR,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM170B,FAM171A1,FAM178A,FAM188A,FAM190B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FLJ31813,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUT11,FXYD4,FZD8,GAD2,GBF1,GDF10,GDF2,GHITM,GJD4,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPR158,GPR158-AS1,GPRIN2,GRID1,GRID1-AS1,GSTO1,GSTO2,H2AFY2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA14,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,INA,IPMK,ITGA8,ITGB1,ITPRIP,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIF11,KIF20B,KIF5B,KLLN,LBX1,LCOR,LDB1,LDB3,LGI1,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100188947,LOC100192204,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC282997,LOC283033,LOC283050,LOC283070,LOC338579,LOC387647,LOC399744,LOC399753,LOC439990,LOC439994,LOC441666,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCU,MEIG1,MGEA5,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3924,MIR4294,MIR4480,MIR4482-1,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKX,MLLT10,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NCOA4,NDST2,NDUFB8,NEBL,NEURL,NEUROG3,NFKB2,NKX2-3,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NRBF2,NRG3,NRP1,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLXDC2,POLL,POLR3A,PPA1,PPIF,PPP1R3C,PPP3CB,PPRC1,PPYR1,PRF1,PRKG1,PRPF18,PRTFDC1,PSAP,PSD,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PYROXD2,R3HCC1L,RAB18,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SRGN,ST8SIA6,STAM,STAMBPL1,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACR2,TAF5,TBATA,TBC1D12,TCTN3,TET1,TFAM,THNSL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TSPAN14,TSPAN15,TTC18,TYSND1,UBE2D1,UBTD1,UCMA,UNC5B,UPF2,USMG5,USP54,USP6NL,VCL,VDAC2,VIM,VPS26A,VSTM4,WAC,WAPAL,WBP1L,WDFY4,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZWINT chr10 112738674 112738761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHOC2 chr10 11282477 11304647 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CELF2 chr10 112826779 112830652 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 112826911 112830560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 112826911 112830560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 112826911 112830560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 112830254 112845854 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADRA2A chr10 11285212 16864223 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 ACBD7,BEND7,C10orf111,C10orf47,C1QL3,CAMK1D,CCDC3,CDC123,CDNF,CELF2,DCLRE1C,DHTKD1,ECHDC3,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC219731,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEC61A2,SEPHS1,SUV39H2,UCMA,UPF2,USP6NL chr10 112854704 112854999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 112854704 112854999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 112922895 113825263 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr10 112923054 112923154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112936223 112936317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 112952980 113968783 LOH Normal High-resolution SNP genotyping 21211785 GPAM chr10 11300494 11822773 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CELF2,ECHDC3,USP6NL chr10 113072526 113073145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 113086814 113086900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 11310243 11310327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF2 chr10 113138093 113138163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113181549 113181859 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 113188314 113188414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113247939 113248689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 113287238 113287338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113292411 113292511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113348981 113349032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 113407430 113407530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113457043 113457114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 1 135006516 Loss Gastric cancer 5K BAC array CGH 17908304 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,VAX1,VCL,VDAC2,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Deletionduplication Normal Affymetrix 250K SNP array 21412953 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Deletion Ewing's sarcoma CGH(Reference) 21437220 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Deletion Medulloblastoma SNP arrays 21979893 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Gain Medulloblastoma SNP arrays 21979893 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Gain Pleomorphic xanthoastrocytoma SNP array 20730472 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Indels Normal Affymetrix 6.0 array 21223598 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Loss Glioblastoma multiforme aCGH 21080181 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 1 135374737 Loss Glioblastoma multiforme conventional CGH 21080181 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBB8,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 113586629 113610425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 113617609 113639805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 11362001 11537500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELF2,USP6NL chr10 11363055 11378346 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CELF2 chr10 113724177 113724277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113809096 113809160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113871359 113871429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113891490 113891575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 113899614 113933508 Gain and loss Pancreatic cancer SNP array 17952125 GPAM chr10 113899627 113933508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPAM chr10 113899627 113933508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPAM chr10 113912345 113912445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPAM chr10 113935383 113935473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPAM chr10 113961455 113961545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 11398803 11401853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 11398803 11401853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 11400725 11401853 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 114033404 114053097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TECTB chr10 114033404 114053097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TECTB chr10 114033483 114053060 Gain and loss Pancreatic cancer SNP array 17952125 TECTB chr10 114041769 115330741 LOH Normal High-resolution SNP genotyping 21211785 ACSL5,GUCY2GP,HABP2,MIR4295,TCF7L2,TECTB,VTI1A,ZDHHC6 chr10 114057926 114106343 Gain and loss Pancreatic cancer SNP array 17952125 GUCY2GP,TECTB chr10 114057929 114106322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2GP,TECTB chr10 114061758 114128386 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 GUCY2GP,TECTB chr10 114073661 114073877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GUCY2GP chr10 114073852 114074091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GUCY2GP chr10 114073864 114073964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GUCY2GP chr10 114090188 114115260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCY2GP chr10 114090197 114117724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCY2GP chr10 114094852 114132845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCY2GP chr10 114095067 114125784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCY2GP chr10 114100201 114108700 Deletion Glioma mate-paired sequence 20126413 GUCY2GP chr10 114101465 114107464 Deletion Normal TaqMan assays 20972442 GUCY2GP chr10 114102065 114106829 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GUCY2GP chr10 114102065 114106829 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GUCY2GP chr10 114102095 114106660 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GUCY2GP chr10 114102154 114106754 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 GUCY2GP chr10 114102172 114106648 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GUCY2GP chr10 114102172 114106648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GUCY2GP chr10 114107253 114473840 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACSL5,GUCY2GP,MIR4295,VTI1A,ZDHHC6 chr10 114123766 114178127 Gain and loss Pancreatic cancer SNP array 17952125 ACSL5 chr10 114123906 114178127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSL5 chr10 114123906 114178127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSL5 chr10 114125945 114178128 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ACSL5 chr10 114146201 114150100 Deletion Glioma mate-paired sequence 20126413 ACSL5 chr10 114147775 114148112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACSL5 chr10 114171590 114171690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACSL5 chr10 114180052 114196662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSL5,ZDHHC6 chr10 114180052 114196662 Gain and loss Pancreatic cancer SNP array 17952125 ACSL5,ZDHHC6 chr10 114180052 114196662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSL5,ZDHHC6 chr10 114187003 114187068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACSL5 chr10 114196746 114568491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4295,VTI1A,ZDHHC6 chr10 114197006 114487522 Gain and loss Pancreatic cancer SNP array 17952125 MIR4295,VTI1A,ZDHHC6 chr10 114249006 114249101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VTI1A chr10 114298381 114298621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VTI1A chr10 11431588 12431588 Deletion or amplification Glioblastoma multiforme - 21525872 C10orf47,CAMK1D,CDC123,DHTKD1,ECHDC3,LOC219731,NUDT5,SEC61A2,UPF2,USP6NL chr10 11431860 11477175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 114382246 114382346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VTI1A chr10 114395063 114395163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VTI1A chr10 114398119 114494523 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VTI1A chr10 114405526 114458454 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VTI1A chr10 114423439 114481914 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VTI1A chr10 114423439 114482634 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VTI1A chr10 11446001 11450300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 11447367 11448985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 114473840 119690655 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABLIM1,ADRB1,AFAP1L2,ATRNL1,C10orf118,C10orf82,CASP7,CCDC172,DCLRE1A,EMX2,EMX2OS,ENO4,FAM160B1,GFRA1,HABP2,HSPA12A,KCNK18,KIAA1598,MIR2110,MIR3663,MIR4483,NHLRC2,NRAP,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,SLC18A2,TCF7L2,TDRD1,TRUB1,VAX1,VTI1A,VWA2 chr10 11448744 11448851 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 1 1450013 LOH Normal High-resolution SNP genotyping 21211785 ADARB2,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,MIR5699,TUBB8,WDR37,ZMYND11 chr10 114513858 114602962 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VTI1A chr10 114517616 114602962 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VTI1A chr10 114578978 114579078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 114584443 114619433 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 114604317 114604857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 114604317 114604857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 114609578 114609929 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 114650019 114650119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 114655756 114817274 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 TCF7L2 chr10 114699998 114916060 Gain or loss Breast cancer - 20668451 TCF7L2 chr10 114699998 114916060 Gain or loss Cancer - 20668451 TCF7L2 chr10 114699998 114916060 Gain or loss Lung cancer - 20668451 TCF7L2 chr10 114699998 114916060 Gain or loss Ovarian cancer - 20668451 TCF7L2 chr10 114699998 114916060 Gain or loss Pancreas cancer - 20668451 TCF7L2 chr10 114699998 114916060 Gain or loss Prostate cancer - 20668451 TCF7L2 chr10 114700201 114916073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF7L2 chr10 114700201 114916073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L2 chr10 114700201 114917236 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L2 chr10 114737225 114737614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L2 chr10 114820980 114821437 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L2 chr10 114820980 114821437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L2 chr10 114826972 117093204 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABLIM1,ADRB1,AFAP1L2,ATRNL1,C10orf118,CASP7,DCLRE1A,FAM160B1,HABP2,MIR2110,MIR4483,NHLRC2,NRAP,PLEKHS1,TCF7L2,TDRD1,TRUB1,VWA2 chr10 114832997 114833087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF7L2 chr10 114835697 114880636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCF7L2 chr10 114840922 114841022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF7L2 chr10 114856262 115024106 Loss Barrett's syndrome BAC array 19417022 TCF7L2 chr10 114861889 114861978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF7L2 chr10 114900000 119100000 Copy number Neuroticism SNP array 17667963 ABLIM1,ADRB1,AFAP1L2,ATRNL1,C10orf118,C10orf82,CASP7,CCDC172,DCLRE1A,ENO4,FAM160B1,GFRA1,HABP2,HSPA12A,KCNK18,KIAA1598,MIR2110,MIR3663,MIR4483,NHLRC2,NRAP,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,SLC18A2,TCF7L2,TDRD1,TRUB1,VAX1,VWA2 chr10 114900000 119100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABLIM1,ADRB1,AFAP1L2,ATRNL1,C10orf118,C10orf82,CASP7,CCDC172,DCLRE1A,ENO4,FAM160B1,GFRA1,HABP2,HSPA12A,KCNK18,KIAA1598,MIR2110,MIR3663,MIR4483,NHLRC2,NRAP,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,SLC18A2,TCF7L2,TDRD1,TRUB1,VAX1,VWA2 chr10 114900000 119100000 Gain Barrett's adenocarcinoma FISH 18663352 ABLIM1,ADRB1,AFAP1L2,ATRNL1,C10orf118,C10orf82,CASP7,CCDC172,DCLRE1A,ENO4,FAM160B1,GFRA1,HABP2,HSPA12A,KCNK18,KIAA1598,MIR2110,MIR3663,MIR4483,NHLRC2,NRAP,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,SLC18A2,TCF7L2,TDRD1,TRUB1,VAX1,VWA2 chr10 114900000 119100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ABLIM1,ADRB1,AFAP1L2,ATRNL1,C10orf118,C10orf82,CASP7,CCDC172,DCLRE1A,ENO4,FAM160B1,GFRA1,HABP2,HSPA12A,KCNK18,KIAA1598,MIR2110,MIR3663,MIR4483,NHLRC2,NRAP,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,SLC18A2,TCF7L2,TDRD1,TRUB1,VAX1,VWA2 chr10 114900000 119100000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ABLIM1,ADRB1,AFAP1L2,ATRNL1,C10orf118,C10orf82,CASP7,CCDC172,DCLRE1A,ENO4,FAM160B1,GFRA1,HABP2,HSPA12A,KCNK18,KIAA1598,MIR2110,MIR3663,MIR4483,NHLRC2,NRAP,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,SLC18A2,TCF7L2,TDRD1,TRUB1,VAX1,VWA2 chr10 114900000 121700000 Loss Malignant fibrous histiocytomas aCGH 21085701 ABLIM1,ADRB1,AFAP1L2,ATRNL1,BAG3,C10orf118,C10orf82,CACUL1,CASC2,CASP7,CCDC172,DCLRE1A,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM204A,FAM45A,FAM45B,GFRA1,GRK5,HABP2,HSPA12A,INPP5F,KCNK18,KIAA1598,MCMBP,MIR2110,MIR3663,MIR4483,MIR4681,NANOS1,NHLRC2,NRAP,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PRDX3,PRLHR,RAB11FIP2,RGS10,SEC23IP,SFXN4,SLC18A2,SNORA19,TCF7L2,TDRD1,TIAL1,TRUB1,VAX1,VWA2 chr10 114900000 121700000 Loss Prostate cancer Array CGH 16573809 ABLIM1,ADRB1,AFAP1L2,ATRNL1,BAG3,C10orf118,C10orf82,CACUL1,CASC2,CASP7,CCDC172,DCLRE1A,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM204A,FAM45A,FAM45B,GFRA1,GRK5,HABP2,HSPA12A,INPP5F,KCNK18,KIAA1598,MCMBP,MIR2110,MIR3663,MIR4483,MIR4681,NANOS1,NHLRC2,NRAP,PDZD8,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PRDX3,PRLHR,RAB11FIP2,RGS10,SEC23IP,SFXN4,SLC18A2,SNORA19,TCF7L2,TDRD1,TIAL1,TRUB1,VAX1,VWA2 chr10 114900000 127400000 Loss Myxofibrosarcoma Array CGH 16751306 ABLIM1,ACADSB,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BTBD16,BUB3,C10orf118,C10orf120,C10orf82,C10orf88,CACUL1,CASC2,CASP7,CCDC172,CHST15,CPXM2,CTBP2,CUZD1,DCLRE1A,DMBT1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FGFR2,FLJ37035,FLJ46361,GFRA1,GPR26,GRK5,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5F,KCNK18,KIAA1598,LHPP,LOC100169752,LOC283038,LOC399815,MCMBP,METTL10,MIR2110,MIR3663,MIR3941,MIR4296,MIR4483,MIR4681,MIR4682,MIR5694,NANOS1,NHLRC2,NKX1-2,NRAP,NSMCE4A,OAT,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PRDX3,PRLHR,PSTK,RAB11FIP2,RGS10,SEC23IP,SFXN4,SLC18A2,SNORA19,TACC2,TCF7L2,TDRD1,TEX36,TIAL1,TRUB1,VAX1,VWA2,WDR11,WDR11-AS1,ZRANB1 chr10 114900000 135534747 Loss Breast cancer Microarray-based CGH 17133270 ABLIM1,ACADSB,ADAM12,ADAM8,ADRB1,AFAP1L2,ARMS2,ATE1,ATRNL1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf118,C10orf120,C10orf137,C10orf82,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CASP7,CCDC172,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DCLRE1A,DHX32,DMBT1,DOCK1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,ENO4,FAM160B1,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FRG2B,FUOM,GFRA1,GLRX3,GPR123,GPR26,GRK5,HABP2,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KCNK18,KIAA1598,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR2110,MIR3663,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4483,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NHLRC2,NKX1-2,NKX6-2,NPS,NRAP,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SLC18A2,SNORA19,SPRN,SPRNP1,STK32C,SYCE1,TACC2,TCERG1L,TCF7L2,TDRD1,TEX36,TIAL1,TRUB1,TTC40,TUBGCP2,UROS,UTF1,VAX1,VENTX,VWA2,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 114903549 115387354 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HABP2,NRAP,TCF7L2 chr10 11491903 11492003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 114928407 114960555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 115018486 115018506 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr10 115048266 115048395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 11505455 11505555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP6NL chr10 115074909 115148296 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 115084257 115148296 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 115103173 115103234 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 115105126 115148296 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 115110426 115148296 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 115110426 115155879 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 115110426 115156760 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 115110426 115186009 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 11511442 11511531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP6NL chr10 115126637 115126720 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 115213268 116594334 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABLIM1,ADRB1,AFAP1L2,C10orf118,CASP7,DCLRE1A,FAM160B1,HABP2,MIR2110,MIR4483,NHLRC2,NRAP,PLEKHS1,TDRD1,VWA2 chr10 115232365 115232862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 115235246 115235308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 11524973 11525153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP6NL chr10 115261058 116022081 LOH Normal High-resolution SNP genotyping 21211785 ADRB1,C10orf118,CASP7,DCLRE1A,HABP2,MIR2110,MIR4483,NHLRC2,NRAP,PLEKHS1,TDRD1,VWA2 chr10 115277183 115277283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 115302775 115339348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HABP2 chr10 115302775 115339348 Gain and loss Pancreatic cancer SNP array 17952125 HABP2 chr10 115302775 115339348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HABP2 chr10 115304841 115304928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 115335104 115379939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HABP2,NRAP chr10 115338574 115413876 Gain and loss Pancreatic cancer SNP array 17952125 HABP2,NRAP chr10 115338580 115413876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HABP2,NRAP chr10 115338580 115413876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HABP2,NRAP chr10 115374873 115374942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRAP chr10 115394945 115395040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRAP chr10 115402648 115402756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRAP chr10 11542517 11693759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP6NL chr10 11542517 11693759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP6NL chr10 11542630 11693643 Gain and loss Pancreatic cancer SNP array 17952125 USP6NL chr10 115428924 115480654 Gain or loss Breast cancer - 20668451 CASP7 chr10 115428924 115480654 Gain or loss Cancer - 20668451 CASP7 chr10 115428924 115480654 Gain or loss Lung cancer - 20668451 CASP7 chr10 115428924 115480654 Gain or loss Ovarian cancer - 20668451 CASP7 chr10 115428924 115480654 Gain or loss Pancreas cancer - 20668451 CASP7 chr10 115428924 115480654 Gain or loss Prostate cancer - 20668451 CASP7 chr10 115428925 115480652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASP7 chr10 115428925 115480652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP7 chr10 115429416 115480652 Gain and loss Pancreatic cancer SNP array 17952125 CASP7 chr10 115453405 115453568 Gain and loss Pancreatic cancer SNP array 17952125 CASP7 chr10 115453405 115453568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP7 chr10 115482916 115527949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CASP7,PLEKHS1 chr10 115499109 115499422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 115501203 115533177 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHS1 chr10 115501203 115533178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHS1 chr10 115501203 115533178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHS1 chr10 115522098 115591547 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4483,PLEKHS1 chr10 115570208 115570339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 115570208 115570340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 115584474 115603849 Gain and loss Pancreatic cancer SNP array 17952125 DCLRE1A chr10 115584474 115604132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1A chr10 115584474 115604132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1A chr10 115604410 115658442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1A,NHLRC2 chr10 115604410 115658442 Gain and loss Pancreatic cancer SNP array 17952125 DCLRE1A,NHLRC2 chr10 115604410 115658442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1A,NHLRC2 chr10 115662968 115666938 Gain and loss Pancreatic cancer SNP array 17952125 NHLRC2 chr10 115694441 115723946 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 115712401 118641001 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABLIM1,ADRB1,AFAP1L2,ATRNL1,C10orf118,C10orf82,CCDC172,ENO4,FAM160B1,GFRA1,HSPA12A,MIR2110,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,TDRD1,TRUB1,VWA2 chr10 115731519 115731614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 115746482 115791891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 115754041 115784278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 1157591 1157676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR37 chr10 115789812 115789897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 115793795 115796657 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 115793795 115796657 Gain or loss Cancer - 20668451 NOT_FOUND chr10 115793795 115796657 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 115793795 115796657 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 115793795 115796657 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 115793795 115796657 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 115793796 115795518 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 115793796 115796657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 115793796 115796657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 115851428 115851523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 115851712 115852020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 115861163 115861266 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 115861163 115861266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 115866896 115867300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 115871964 115924354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf118 chr10 115871964 115924354 Gain and loss Pancreatic cancer SNP array 17952125 C10orf118 chr10 115871964 115924354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf118 chr10 115889034 115889128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf118 chr10 115929018 115982053 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C10orf118,MIR2110,TDRD1 chr10 115929019 115982053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf118,MIR2110,TDRD1 chr10 115929019 115982053 Gain and loss Pancreatic cancer SNP array 17952125 C10orf118,MIR2110,TDRD1 chr10 115929019 115982053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf118,MIR2110,TDRD1 chr10 115939072 115939165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TDRD1 chr10 115989008 116039741 Gain and loss Pancreatic cancer SNP array 17952125 TDRD1,VWA2 chr10 115989008 116056184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AFAP1L2,TDRD1,VWA2 chr10 115989008 116056184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFAP1L2,TDRD1,VWA2 chr10 115995823 115996463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 11599865 11599935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP6NL chr10 116001 124500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 116027501 116082500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AFAP1L2,VWA2 chr10 116044575 116154505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AFAP1L2,VWA2 chr10 116044575 116154505 Gain and loss Pancreatic cancer SNP array 17952125 AFAP1L2,VWA2 chr10 116044575 116154505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFAP1L2,VWA2 chr10 116079923 116080008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AFAP1L2 chr10 116095627 116095702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AFAP1L2 chr10 116173519 116173816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 116173519 116173816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 116173521 116173816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 116180862 116434206 Gain and loss Pancreatic cancer SNP array 17952125 ABLIM1 chr10 116180862 116434404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABLIM1 chr10 116180862 116434404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABLIM1 chr10 1161824 51735574 Deletion Normal GeneGISTIC 21527027 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AGAP4,AGAP7,AGAP8,AGAP9,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALOX5,ANKRD16,ANKRD26,ANKRD30A,ANXA8,ANXA8L1,ANXA8L2,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf111,C10orf113,C10orf114,C10orf128,C10orf25,C10orf47,C10orf53,C10orf67,C10orf68,C10orf71,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,CHAT,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CTSL1P2,CUBN,CUL2,CXCL12,DCLRE1C,DHTKD1,DNAJC1,DRGX,EBLN1,ECHDC3,ENKUR,EPC1,ERCC6,FAM107B,FAM170B,FAM171A1,FAM188A,FAM208B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FBXO18,FLJ45983,FRMD4A,FRMPD2,FRMPD2P1,FXYD4,FZD8,GAD2,GATA3,GDF10,GDF2,GDI2,GJD4,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,HNRNPA3P1,HNRNPF,HSD17B7P2,HSPA14,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LINC00200,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283033,LOC283070,LOC338579,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC399753,LOC439949,LOC439950,LOC441666,LOC643650,LOC728407,LOC728643,LOC731789,LOC84856,LRRC18,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MAPK8,MARCH8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR4294,MIR4480,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR5586,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSMB,MSRB2,MTPAP,MTRNR2L7,MYO3A,NCOA4,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OGDHL,OLAH,OPTN,OR13A1,OTUD1,PARD3,PARG,PDSS1,PFKFB3,PFKP,PGBD3,PHYH,PIP4K2A,PITRM1,PLXDC2,PPYR1,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBM17,RBP3,RET,RPP38,RSU1,RSU1P2,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC18A3,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,SYT15,TAF3,TAKR,THNSL1,TIMM23,TMEM236,TMEM72,TMEM72-AS1,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM,VSTM4,WAC,WDFY4,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488 chr10 1161824 51735574 Deletion Normal Standard peel-off 21527027 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AGAP4,AGAP7,AGAP8,AGAP9,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALOX5,ANKRD16,ANKRD26,ANKRD30A,ANXA8,ANXA8L1,ANXA8L2,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf111,C10orf113,C10orf114,C10orf128,C10orf25,C10orf47,C10orf53,C10orf67,C10orf68,C10orf71,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,CHAT,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CTSL1P2,CUBN,CUL2,CXCL12,DCLRE1C,DHTKD1,DNAJC1,DRGX,EBLN1,ECHDC3,ENKUR,EPC1,ERCC6,FAM107B,FAM170B,FAM171A1,FAM188A,FAM208B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FBXO18,FLJ45983,FRMD4A,FRMPD2,FRMPD2P1,FXYD4,FZD8,GAD2,GATA3,GDF10,GDF2,GDI2,GJD4,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,HNRNPA3P1,HNRNPF,HSD17B7P2,HSPA14,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LINC00200,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283033,LOC283070,LOC338579,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC399753,LOC439949,LOC439950,LOC441666,LOC643650,LOC728407,LOC728643,LOC731789,LOC84856,LRRC18,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MAPK8,MARCH8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR4294,MIR4480,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR5586,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSMB,MSRB2,MTPAP,MTRNR2L7,MYO3A,NCOA4,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OGDHL,OLAH,OPTN,OR13A1,OTUD1,PARD3,PARG,PDSS1,PFKFB3,PFKP,PGBD3,PHYH,PIP4K2A,PITRM1,PLXDC2,PPYR1,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBM17,RBP3,RET,RPP38,RSU1,RSU1P2,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC18A3,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,SYT15,TAF3,TAKR,THNSL1,TIMM23,TMEM236,TMEM72,TMEM72-AS1,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM,VSTM4,WAC,WDFY4,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488 chr10 116214407 116214507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABLIM1 chr10 116239720 116239820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABLIM1 chr10 116251746 116252096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABLIM1 chr10 116260056 116261557 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABLIM1 chr10 116334 122205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 116334 122205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 116346152 116346252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABLIM1 chr10 116357426 116357512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABLIM1 chr10 116365418 116365518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABLIM1 chr10 116396958 116397111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABLIM1 chr10 116406248 116406341 Gain and loss Pancreatic cancer SNP array 17952125 ABLIM1 chr10 116406248 116406341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABLIM1 chr10 116438321 116438421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABLIM1 chr10 116439892 116440386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABLIM1 chr10 116439924 116440389 Gain and loss Pancreatic cancer SNP array 17952125 ABLIM1 chr10 116480491 116513595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 116546418 116546517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 116554428 117426335 LOH Normal High-resolution SNP genotyping 21211785 ATRNL1,FAM160B1,TRUB1 chr10 116559124 116560919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 116571493 116649575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM160B1 chr10 116571493 116649575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM160B1 chr10 116580626 116614462 Gain and loss Pancreatic cancer SNP array 17952125 FAM160B1 chr10 116650471 116651115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM160B1 chr10 116650632 117717915 LOH Normal High-resolution SNP genotyping 21211785 ATRNL1,FAM160B1,TRUB1 chr10 116650632 117721490 LOH Normal High-resolution SNP genotyping 21211785 ATRNL1,FAM160B1,TRUB1 chr10 116667360 116667460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 116676514 116676611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 116687942 116727424 Gain and loss Pancreatic cancer SNP array 17952125 TRUB1 chr10 116687942 116727429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRUB1 chr10 116687942 116727429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRUB1 chr10 116776508 117717915 LOH Normal High-resolution SNP genotyping 21211785 ATRNL1 chr10 116784274 116784374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 116806856 117472936 LOH Normal High-resolution SNP genotyping 21211785 ATRNL1 chr10 116843114 117698484 Gain and loss Pancreatic cancer SNP array 17952125 ATRNL1 chr10 116843114 117698486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATRNL1 chr10 116843114 117698486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATRNL1 chr10 116917584 116917659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 116926703 116926803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 11693306 11694231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 11693306 11694231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 11693306 11694231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 116937208 117164977 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ATRNL1 chr10 117006109 117006342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117006329 117006435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117006330 117006549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117085461 117085554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117130038 117522203 Copy number gain Normal High-resolution SNP genotyping 21211785 ATRNL1 chr10 117143815 117143915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 1 17300000 Gain Breast cancer array-CGH 22032731 ACBD7,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,BEND7,C10orf108,C10orf111,C10orf47,C1QL3,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,DIP2C,ECHDC3,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,GTPBP4,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100192204,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC282980,LOC283070,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MCM10,MEIG1,MIR1265,MIR3155A,MIR3155B,MIR4480,MIR5699,NET1,NMT2,NUDT5,OLAH,OPTN,PFKFB3,PFKP,PHYH,PITRM1,PRKCQ,PRPF18,PTER,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SUV39H2,TAF3,TAKR,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WDR37,ZMYND11 chr10 117389745 117389845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117459322 117459422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117512559 117523833 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ATRNL1 chr10 117512559 117523833 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 ATRNL1 chr10 117540000 126020000 Loss Breast cancer aCGH 21509527 ACADSB,ARMS2,ATE1,ATRNL1,BAG3,BTBD16,BUB3,C10orf120,C10orf82,C10orf88,CACUL1,CASC2,CCDC172,CHST15,CPXM2,CUZD1,DMBT1,EIF3A,EMX2,EMX2OS,ENO4,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FGFR2,FLJ46361,GFRA1,GPR26,GRK5,HMX2,HMX3,HSPA12A,HTRA1,IKZF5,INPP5F,KCNK18,KIAA1598,LOC399815,MCMBP,MIR3663,MIR3941,MIR4681,MIR4682,MIR5694,NANOS1,NSMCE4A,PDZD8,PLEKHA1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,PPAPDC1A,PRDX3,PRLHR,PSTK,RAB11FIP2,RGS10,SEC23IP,SFXN4,SLC18A2,SNORA19,TACC2,TIAL1,VAX1,WDR11,WDR11-AS1 chr10 11762651 11762751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 117692429 117692529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117701607 117701992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATRNL1 chr10 117703656 117703756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117703799 117703949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRNL1 chr10 117719904 117720162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 117734828 117734924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 117757027 118859597 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C10orf82,CCDC172,ENO4,GFRA1,HSPA12A,KIAA1598,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3 chr10 117812943 118022966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GFRA1 chr10 117812943 118022966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFRA1 chr10 117813852 118021786 Gain and loss Pancreatic cancer SNP array 17952125 GFRA1 chr10 117837543 117837643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GFRA1 chr10 117864920 117865007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFRA1 chr10 117914811 117914931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GFRA1 chr10 117924804 117924904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GFRA1 chr10 117937212 117937312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GFRA1 chr10 117947120 117970442 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GFRA1 chr10 117950827 117950927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GFRA1 chr10 118020001 118024000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GFRA1 chr10 118044859 118044959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 118069318 118069418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 118073930 118129530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC172 chr10 118073930 118129530 Gain and loss Pancreatic cancer SNP array 17952125 CCDC172 chr10 118073930 118129530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC172 chr10 118087106 118087206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC172 chr10 118108255 118108355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC172 chr10 11811501 11812500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 118121617 118121717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC172 chr10 11812501 11961000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf47,LOC219731 chr10 118127750 118129127 Gain Autism 1M Ailent CGH whole-genome array 21865298 CCDC172 chr10 118158759 118158975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 118177369 118227456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNLIPRP3 chr10 118177369 118227456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNLIPRP3 chr10 118177413 118227458 Amplification Intellectual disability 100k SNP Array 21811512 PNLIPRP3 chr10 118188970 118189546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNLIPRP3 chr10 118189230 118189526 Gain and loss Pancreatic cancer SNP array 17952125 PNLIPRP3 chr10 118227187 118228227 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PNLIPRP3 chr10 118231303 118231335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PNLIPRP3 chr10 11824361 11846071 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr10 11824362 11846068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 11824362 11846068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 11824389 11846070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 118253501 118257600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 118255300 118255622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 118287685 118287759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 118287685 118287790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 118287685 118287804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 118295418 118317356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNLIP chr10 118295418 118317356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNLIP chr10 118295594 118317356 Gain and loss Pancreatic cancer SNP array 17952125 PNLIP chr10 118305011 118305111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 118326810 118332819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNLIP chr10 118340480 118358676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNLIPRP1 chr10 118340480 118358676 Gain and loss Pancreatic cancer SNP array 17952125 PNLIPRP1 chr10 118340480 118358676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNLIPRP1 chr10 118354808 118363319 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 PNLIPRP1 chr10 118355501 118577500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf82,HSPA12A,PNLIPRP1,PNLIPRP2 chr10 118370455 118394644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNLIPRP2 chr10 118370455 118394644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNLIPRP2 chr10 118370808 118394644 Gain and loss Pancreatic cancer SNP array 17952125 PNLIPRP2 chr10 118413198 118419471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 118413198 118419471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 118413198 118419765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 118420694 118456789 Gain and loss Pancreatic cancer SNP array 17952125 C10orf82,HSPA12A chr10 118420694 118492075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf82,HSPA12A chr10 118420694 118492075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf82,HSPA12A chr10 118456466 118456540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPA12A chr10 118463199 118471756 Loss Normal Birdsuite, version 1.5.2 22087296 HSPA12A chr10 118488381 118533328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSPA12A chr10 118499551 118499928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPA12A chr10 118506767 118506866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 11851187 11851227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 118599013 118632007 Gain and loss Pancreatic cancer SNP array 17952125 ENO4 chr10 118599013 118661287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENO4,KIAA1598 chr10 118599013 118661287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENO4,KIAA1598 chr10 118605750 118754866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENO4,KIAA1598 chr10 118605750 118754866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENO4,KIAA1598 chr10 118626682 118649173 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ENO4,KIAA1598 chr10 118634298 118755103 Gain and loss Pancreatic cancer SNP array 17952125 ENO4,KIAA1598 chr10 118680257 118680340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1598 chr10 118690000 123210000 Deletion Sezary syndrome Array-based CGH 18413736 BAG3,CACUL1,CASC2,EIF3A,EMX2,EMX2OS,FAM204A,FAM45A,FAM45B,GRK5,INPP5F,KCNK18,KIAA1598,MCMBP,MIR3663,MIR4681,MIR4682,MIR5694,NANOS1,PDZD8,PPAPDC1A,PRDX3,PRLHR,RAB11FIP2,RGS10,SEC23IP,SFXN4,SLC18A2,SNORA19,TIAL1,VAX1,WDR11,WDR11-AS1 chr10 118756128 118758916 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KIAA1598 chr10 118773175 118773352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1598 chr10 118820375 118854229 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA1598 chr10 118878022 118887802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1598 chr10 118878022 118887802 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1598 chr10 118878022 118887802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1598 chr10 118883501 118891000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA1598,VAX1 chr10 118915001 118918000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 118917189 118917266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 118918001 119015500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNK18,MIR3663,SLC18A2 chr10 118924599 118926895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 118945669 118946155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 118946990 118959800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNK18 chr10 118946990 118959800 Gain and loss Pancreatic cancer SNP array 17952125 KCNK18 chr10 118946990 118959800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK18 chr10 118956999 118969809 Copy number Migraine TaqMan Copy Number Assay 22355750 KCNK18 chr10 118990594 119028931 Gain and loss Pancreatic cancer SNP array 17952125 SLC18A2 chr10 118990706 119027085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC18A2 chr10 118990706 119027085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC18A2 chr10 118994995 118995095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 119014049 119014127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC18A2 chr10 119025286 119058279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDZD8,SLC18A2 chr10 119032598 119124927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDZD8,SLC18A2 chr10 119032598 119124927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDZD8,SLC18A2 chr10 119032598 119124968 Gain and loss Pancreatic cancer SNP array 17952125 PDZD8,SLC18A2 chr10 11905402 11954280 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C10orf47,LOC219731 chr10 11905403 11954280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf47,LOC219731 chr10 11905403 11954280 Gain and loss Pancreatic cancer SNP array 17952125 C10orf47,LOC219731 chr10 11905403 11954280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf47,LOC219731 chr10 119071211 119071276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZD8 chr10 119087804 119087898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZD8 chr10 119097873 135323432 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,DHX32,DMBT1,DOCK1,DPYSL4,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GLRX3,GPR123,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,SPRN,STK32C,TACC2,TCERG1L,TEX36,TIAL1,TTC40,TUBGCP2,UROS,UTF1,VENTX,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 119100000 121700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BAG3,CACUL1,CASC2,EIF3A,EMX2,EMX2OS,FAM204A,FAM45A,FAM45B,GRK5,INPP5F,MCMBP,MIR4681,NANOS1,PDZD8,PRDX3,PRLHR,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,TIAL1 chr10 119100000 121700000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 BAG3,CACUL1,CASC2,EIF3A,EMX2,EMX2OS,FAM204A,FAM45A,FAM45B,GRK5,INPP5F,MCMBP,MIR4681,NANOS1,PDZD8,PRDX3,PRLHR,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,TIAL1 chr10 119100000 121700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BAG3,CACUL1,CASC2,EIF3A,EMX2,EMX2OS,FAM204A,FAM45A,FAM45B,GRK5,INPP5F,MCMBP,MIR4681,NANOS1,PDZD8,PRDX3,PRLHR,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,TIAL1 chr10 119100000 135374737 Copy number Macular degeneration MLPA 22558131 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DHX32,DMBT1,DOCK1,DPYSL4,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GLRX3,GPR123,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TEX36,TIAL1,TTC40,TUBGCP2,UROS,UTF1,VENTX,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 119100000 135374737 Copy number Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DHX32,DMBT1,DOCK1,DPYSL4,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GLRX3,GPR123,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TEX36,TIAL1,TTC40,TUBGCP2,UROS,UTF1,VENTX,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 119100000 135374737 Deletion Bipolar disorder whole-organ genomic mapping strategy 18458673 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DHX32,DMBT1,DOCK1,DPYSL4,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GLRX3,GPR123,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TEX36,TIAL1,TTC40,TUBGCP2,UROS,UTF1,VENTX,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 119100000 135374737 Deletion Muscular dystrophy FISH 21149563 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DHX32,DMBT1,DOCK1,DPYSL4,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GLRX3,GPR123,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TEX36,TIAL1,TTC40,TUBGCP2,UROS,UTF1,VENTX,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 119100000 135374737 Loss Glioblastoma multiforme aCGH 21080181 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DHX32,DMBT1,DOCK1,DPYSL4,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GLRX3,GPR123,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TEX36,TIAL1,TTC40,TUBGCP2,UROS,UTF1,VENTX,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 119100000 135374737 Loss Honadal dysgenesis oligo V6.2 21048976 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DHX32,DMBT1,DOCK1,DPYSL4,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GLRX3,GPR123,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TEX36,TIAL1,TTC40,TUBGCP2,UROS,UTF1,VENTX,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 119100000 135534747 Copy number Glioma Real-Time PCR 18556773 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BAG3,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CACUL1,CALY,CASC2,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DHX32,DMBT1,DOCK1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,EIF3A,EMX2,EMX2OS,FAM175B,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FRG2B,FUOM,GLRX3,GPR123,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5A,INPP5F,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,MCMBP,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MIR4681,MIR4682,MIR5694,MKI67,MMP21,MTG1,NANOS1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PDZD8,PLEKHA1,PPAPDC1A,PPP2R2D,PRAP1,PRDX3,PRLHR,PSTK,PTPRE,PWWP2B,RAB11FIP2,RGS10,SEC23IP,SFXN4,SNORA19,SPRN,SPRNP1,STK32C,SYCE1,TACC2,TCERG1L,TEX36,TIAL1,TTC40,TUBGCP2,UROS,UTF1,VENTX,WDR11,WDR11-AS1,ZNF511,ZRANB1 chr10 11910158 11910237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf47,LOC219731 chr10 119107857 119107957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDZD8 chr10 119113700 119605172 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 EMX2,EMX2OS,PDZD8 chr10 119123501 119125500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDZD8 chr10 11914196 11939225 Gain Normal Birdsuite, version 1.5.2 22087296 C10orf47,LOC219731 chr10 119146141 119146241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 119157451 119202519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 119181501 119239000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 119189957 121519555 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BAG3,CACUL1,CASC2,EIF3A,EMX2,EMX2OS,FAM204A,FAM45A,FAM45B,GRK5,INPP5F,MIR4681,NANOS1,PRDX3,PRLHR,RAB11FIP2,RGS10,SFXN4,SNORA19,TIAL1 chr10 119209103 119209440 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 119223773 119223873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 119224356 119224456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 119240768 119242078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 11924964 11925901 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC219731 chr10 1192780 1192930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 119284001 119307000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMX2,EMX2OS chr10 119291946 119299043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMX2OS chr10 119291946 119299043 Gain and loss Pancreatic cancer SNP array 17952125 EMX2OS chr10 119291946 119299043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMX2OS chr10 119320240 119320420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 119357409 119357559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 119519351 119953559 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CASC2,RAB11FIP2 chr10 119583534 119583634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 11961001 11962000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 119624265 119624595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 119672188 119672373 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 11967302 11967496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UPF2 chr10 11967961 11968046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UPF2 chr10 119690655 119972645 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CASC2,RAB11FIP2 chr10 119719808 119719896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 119754419 119796104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP2 chr10 119754419 119796104 Gain and loss Pancreatic cancer SNP array 17952125 RAB11FIP2 chr10 119754419 119796104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP2 chr10 119766603 119811820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CASC2,RAB11FIP2 chr10 119774049 119806725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CASC2,RAB11FIP2 chr10 119796321 119959649 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CASC2,RAB11FIP2 chr10 119796323 119959649 Gain and loss Pancreatic cancer SNP array 17952125 CASC2,RAB11FIP2 chr10 119796506 119957322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASC2,RAB11FIP2 chr10 119796506 119957322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASC2,RAB11FIP2 chr10 119803404 119803792 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RAB11FIP2 chr10 119819711 119819811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASC2 chr10 119841723 120091822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASC2,FAM204A chr10 119841723 120091822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASC2,FAM204A chr10 11985438 11985776 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UPF2 chr10 119858 132393 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 119860243 119860343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASC2 chr10 119861282 119861382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASC2 chr10 119954514 119954675 Gain and loss Pancreatic cancer SNP array 17952125 CASC2 chr10 119954514 119954675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASC2 chr10 119969181 119969495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CASC2 chr10 119972645 127529977 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACADSB,ARMS2,ATE1,BAG3,BCCIP,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,CACUL1,CHST15,CPXM2,CTBP2,CUZD1,DHX32,DMBT1,EIF3A,FAM175B,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FGFR2,FLJ37035,FLJ46361,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5F,LHPP,LOC100169752,LOC283038,LOC399815,MCMBP,METTL10,MIR3941,MIR4296,MIR4484,MIR4681,MIR4682,MIR5694,MMP21,NANOS1,NKX1-2,NSMCE4A,OAT,PLEKHA1,PPAPDC1A,PRDX3,PRLHR,PSTK,RGS10,SEC23IP,SFXN4,SNORA19,TACC2,TEX36,TIAL1,UROS,WDR11,WDR11-AS1,ZRANB1 chr10 119990093 120006858 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 12002027 12125029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHTKD1,UPF2 chr10 12002027 12125029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHTKD1,UPF2 chr10 12002028 12125029 Gain and loss Pancreatic cancer SNP array 17952125 DHTKD1,UPF2 chr10 120023837 120023904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 120024011 120024101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 12005186 12005267 Gain and loss Pancreatic cancer SNP array 17952125 UPF2 chr10 12005186 12005267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UPF2 chr10 120059254 120091822 Gain and loss Pancreatic cancer SNP array 17952125 FAM204A chr10 1 20189475 Loss Medulloblastoma array-CGH 16783165 ACBD7,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ARL5B,ASB13,ATP5C1,BEND7,C10orf108,C10orf111,C10orf47,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,DIP2C,ECHDC3,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,GTPBP4,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100128098,LOC100129213,LOC100192204,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC282980,LOC283070,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MCM10,MEIG1,MIR1265,MIR3155A,MIR3155B,MIR4480,MIR511-1,MIR511-2,MIR5699,MRC1,NET1,NMT2,NSUN6,NUDT5,OLAH,OPTN,PFKFB3,PFKP,PHYH,PITRM1,PLXDC2,PRKCQ,PRPF18,PTER,PTPLA,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SLC39A12,ST8SIA6,STAM,SUV39H2,TAF3,TAKR,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WDR37,ZMYND11 chr10 12019743 12019843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UPF2 chr10 120283992 120284098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120285198 120285251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 120322373 120323122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120328309 120360611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRLHR chr10 120342906 120345150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120342906 120345150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120343634 120344746 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 120349085 120349185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 120389296 120389396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 120393269 120393700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120400000 122600000 Deletion abnormal development HR-CGH, Array-CGH 18461090 BAG3,CACUL1,EIF3A,FAM45A,FAM45B,GRK5,INPP5F,MCMBP,MIR4681,MIR4682,MIR5694,NANOS1,PPAPDC1A,PRDX3,RGS10,SEC23IP,SFXN4,SNORA19,TIAL1,WDR11-AS1 chr10 120414781 121519555 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BAG3,CACUL1,EIF3A,FAM45A,FAM45B,GRK5,INPP5F,MIR4681,NANOS1,PRDX3,RGS10,SFXN4,SNORA19,TIAL1 chr10 120430484 120504748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACUL1 chr10 120430484 120504748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACUL1 chr10 120434059 120504748 Gain and loss Pancreatic cancer SNP array 17952125 CACUL1 chr10 120438750 120438832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 120535391 120535465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 120535391 120535465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120560812 126840732 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACADSB,ARMS2,ATE1,BAG3,BTBD16,BUB3,C10orf120,C10orf88,CHST15,CPXM2,CTBP2,CUZD1,DMBT1,EIF3A,FAM175B,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FGFR2,FLJ46361,GPR26,GRK5,HMX2,HMX3,HTRA1,IKZF5,INPP5F,LHPP,LOC399815,MCMBP,METTL10,MIR3941,MIR4296,MIR4681,MIR4682,MIR5694,NANOS1,NKX1-2,NSMCE4A,OAT,PLEKHA1,PPAPDC1A,PRDX3,PSTK,RGS10,SEC23IP,SFXN4,SNORA19,TACC2,TIAL1,WDR11,WDR11-AS1,ZRANB1 chr10 120621551 120622062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 120621556 120622104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120672835 120672935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 120682176 120682797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120729752 120729931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 120738153 120738253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 120755292 120755401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120779262 120780977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120779262 120780977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 120779262 120780977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120784531 120830324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3A,NANOS1,SNORA19 chr10 120784531 120830324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3A,NANOS1,SNORA19 chr10 120784543 120830306 Gain and loss Pancreatic cancer SNP array 17952125 EIF3A,NANOS1,SNORA19 chr10 120807908 120808008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF3A chr10 120809513 120809640 Gain and loss Pancreatic cancer SNP array 17952125 EIF3A chr10 120809513 120809640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3A chr10 120810485 120810613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3A chr10 120810487 120810613 Gain and loss Pancreatic cancer SNP array 17952125 EIF3A chr10 120810487 120810613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3A chr10 120817680 120817773 Gain and loss Pancreatic cancer SNP array 17952125 EIF3A chr10 120817680 120817773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3A chr10 120827977 120828580 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EIF3A chr10 120853601 120887205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM45A,FAM45B chr10 120853601 120887205 Gain and loss Pancreatic cancer SNP array 17952125 FAM45A,FAM45B chr10 120853601 120887205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM45A,FAM45B chr10 120853618 120886675 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM45A,FAM45B chr10 120890424 120915194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM45A,FAM45B,SFXN4 chr10 120890424 120915194 Gain and loss Pancreatic cancer SNP array 17952125 FAM45A,FAM45B,SFXN4 chr10 120890424 120915194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM45A,FAM45B,SFXN4 chr10 120917203 120928335 Gain and loss Pancreatic cancer SNP array 17952125 PRDX3,SFXN4 chr10 120917205 120928335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRDX3,SFXN4 chr10 120917205 120928335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDX3,SFXN4 chr10 120957091 121205118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRK5,MIR4681 chr10 120957091 121205118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRK5,MIR4681 chr10 120957214 121205125 Gain and loss Pancreatic cancer SNP array 17952125 GRK5,MIR4681 chr10 120962359 120962646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 120962359 120962648 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 120962359 120962648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 121001446 121001546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRK5 chr10 121001501 121219000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRK5,MIR4681 chr10 121014703 121014753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRK5 chr10 121086040 121086140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRK5 chr10 121120044 121120076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRK5 chr10 121144348 121144640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRK5 chr10 121160038 121160128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRK5 chr10 121206621 121209242 Gain and loss Pancreatic cancer SNP array 17952125 GRK5 chr10 121249328 121292212 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 RGS10 chr10 121249330 121292212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS10 chr10 121249330 121292212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS10 chr10 121249442 121292157 Gain and loss Pancreatic cancer SNP array 17952125 RGS10 chr10 121275052 121300459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGS10 chr10 121322970 121346531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIAL1 chr10 121322970 121346531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAL1 chr10 121324904 121346531 Gain and loss Pancreatic cancer SNP array 17952125 TIAL1 chr10 121370570 121371382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 121386010 121386110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 121387955 121388584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 121387958 121388584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 121387958 121388584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 121400871 121427319 Deletion Cardiomyopathy NimbleGen 2.1M CGH arrays 21353195 BAG3 chr10 121400872 121427317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAG3 chr10 121400872 121427317 Gain and loss Pancreatic cancer SNP array 17952125 BAG3 chr10 121400872 121427317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAG3 chr10 12143151 12143183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DHTKD1 chr10 121432476 121433325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAG3 chr10 121475587 121578648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5F chr10 121475587 121578648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5F chr10 121475599 121578648 Gain and loss Pancreatic cancer SNP array 17952125 INPP5F chr10 12150940 12205229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHTKD1,SEC61A2 chr10 12150940 12205229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHTKD1,SEC61A2 chr10 12150977 12205230 Gain and loss Pancreatic cancer SNP array 17952125 DHTKD1,SEC61A2 chr10 121517749 121518040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5F chr10 121517754 121518044 Gain and loss Pancreatic cancer SNP array 17952125 INPP5F chr10 121517754 121518044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5F chr10 121522440 121522511 Deletion Acute myeloid leukemia BAC aCGH 20962326 INPP5F chr10 121547270 121547370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5F chr10 121574308 121574408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5F chr10 121578962 121622256 Gain and loss Pancreatic cancer SNP array 17952125 INPP5F,MCMBP chr10 121578962 121622384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5F,MCMBP chr10 121578962 121622384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5F,MCMBP chr10 121583919 121584016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5F chr10 121585406 121620064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INPP5F,MCMBP chr10 121605543 121605623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCMBP chr10 121642213 121691235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC23IP chr10 121642213 121691235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC23IP chr10 121642280 121691647 Gain and loss Pancreatic cancer SNP array 17952125 SEC23IP chr10 121700000 123100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR4682,MIR5694,PPAPDC1A,SEC23IP,WDR11,WDR11-AS1 chr10 121700000 123100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR4682,MIR5694,PPAPDC1A,SEC23IP,WDR11,WDR11-AS1 chr10 121700000 123100000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 MIR4682,MIR5694,PPAPDC1A,SEC23IP,WDR11,WDR11-AS1 chr10 121730964 121731039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 121734098 121736192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 121746588 121747211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 121763060 122751081 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR5694,PPAPDC1A,WDR11,WDR11-AS1 chr10 121763060 122789714 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR5694,PPAPDC1A,WDR11,WDR11-AS1 chr10 1218073 1769670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADARB2,ADARB2-AS1 chr10 1218073 1769670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADARB2,ADARB2-AS1 chr10 121819482 121819661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 121819482 121819661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 121823080 121855959 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 121823080 121859064 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 121824555 121855959 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 121824555 121859064 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 121872120 121872220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 121873634 121873728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 1218983 1769344 Gain and loss Pancreatic cancer SNP array 17952125 ADARB2,ADARB2-AS1 chr10 121936502 121936602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 121942439 121942539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 121949470 121949570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 12198267 12198384 Gain and loss Pancreatic cancer SNP array 17952125 SEC61A2 chr10 12198278 12198384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC61A2 chr10 12198299 12198384 Gain and loss Pancreatic cancer SNP array 17952125 SEC61A2 chr10 12200000 17300000 Deletion Digeorge syndrome references 17576883 ACBD7,BEND7,C10orf111,C1QL3,CAMK1D,CCDC3,CDC123,CDNF,CUBN,DCLRE1C,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEC61A2,SEPHS1,SUV39H2,TRDMT1,UCMA,VIM chr10 12200000 17300000 Deletion Lung cancer Relied on a multipoint score function 16773561 ACBD7,BEND7,C10orf111,C1QL3,CAMK1D,CCDC3,CDC123,CDNF,CUBN,DCLRE1C,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEC61A2,SEPHS1,SUV39H2,TRDMT1,UCMA,VIM chr10 12200000 17300000 Deletion Velocardiofacial syndrome references 17576883 ACBD7,BEND7,C10orf111,C1QL3,CAMK1D,CCDC3,CDC123,CDNF,CUBN,DCLRE1C,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEC61A2,SEPHS1,SUV39H2,TRDMT1,UCMA,VIM chr10 12200000 22600000 Loss Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ACBD7,ARL5B,BEND7,C10orf111,C10orf113,C10orf114,C1QL3,CACNB2,CAMK1D,CCDC3,CDC123,CDNF,CUBN,DCLRE1C,DNAJC1,EBLN1,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100128098,LOC100128511,LOC100129213,LOC100130992,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR1915,MIR4480,MIR4675,MIR511-1,MIR511-2,MLLT10,MRC1,NEBL,NMT2,NSUN6,NUDT5,OLAH,OPTN,PHYH,PLXDC2,PRPF18,PTER,PTPLA,RPP38,RSU1,SEC61A2,SEPHS1,SKIDA1,SLC39A12,ST8SIA6,STAM,SUV39H2,TMEM236,TRDMT1,UCMA,VIM chr10 122104203 122104685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 122104417 122104685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 122108053 122108226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 12211642 12251962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC123,NUDT5,SEC61A2 chr10 12211642 12251962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC123,NUDT5,SEC61A2 chr10 12211699 12251962 Gain and loss Pancreatic cancer SNP array 17952125 CDC123,NUDT5,SEC61A2 chr10 12211703 12251962 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 CDC123,NUDT5,SEC61A2 chr10 122184485 122189878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 122196735 122224051 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPAPDC1A chr10 122206455 122339357 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PPAPDC1A chr10 122206456 122339357 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPAPDC1A chr10 122206456 122339357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPAPDC1A chr10 122206456 122339357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPAPDC1A chr10 122215101 122220800 Deletion Glioma mate-paired sequence 20126413 PPAPDC1A chr10 122218784 122218884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAPDC1A chr10 122251959 122252059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAPDC1A chr10 122273747 122273790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAPDC1A chr10 12227668 12227769 Gain and loss Pancreatic cancer SNP array 17952125 NUDT5 chr10 12227668 12227769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUDT5 chr10 122279484 122279575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAPDC1A chr10 122295329 122295423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAPDC1A chr10 122306349 122306427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPAPDC1A chr10 122313004 122313334 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPAPDC1A chr10 122347451 122349610 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR5694,PPAPDC1A chr10 122347711 122349619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5694,PPAPDC1A chr10 122347711 122349619 Gain and loss Pancreatic cancer SNP array 17952125 MIR5694,PPAPDC1A chr10 122347711 122349619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5694,PPAPDC1A chr10 12237312 12269448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDC123,NUDT5 chr10 122401613 122401697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5694 chr10 122437849 122437949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5694 chr10 122473377 123347936 Gain and loss Pancreatic cancer SNP array 17952125 FGFR2,MIR5694,WDR11,WDR11-AS1 chr10 12248508 12278149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC123 chr10 12248508 12278149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC123 chr10 122494294 122494383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5694 chr10 12249580 12278149 Gain and loss Pancreatic cancer SNP array 17952125 CDC123 chr10 122521474 122521569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5694,WDR11-AS1 chr10 1225670 1225831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADARB2 chr10 122600685 122659026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR5694,WDR11,WDR11-AS1 chr10 122600685 122659026 Gain and loss Pancreatic cancer SNP array 17952125 MIR5694,WDR11,WDR11-AS1 chr10 122600860 122659025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5694,WDR11,WDR11-AS1 chr10 122600860 122659025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5694,WDR11,WDR11-AS1 chr10 122625702 122891863 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR5694,WDR11 chr10 122646703 122673091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR5694,WDR11 chr10 122684391 122717992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR5694 chr10 122691128 122691419 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR5694 chr10 122709923 122891863 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR5694 chr10 122718224 122790100 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR5694 chr10 122749846 122749941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5694 chr10 122759687 122777485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR5694 chr10 12277971 12332593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC123 chr10 12277971 12332593 Gain and loss Pancreatic cancer SNP array 17952125 CDC123 chr10 12277971 12332593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC123 chr10 122801625 122801699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5694 chr10 122868141 123078843 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 122868141 123651712 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATE1,FGFR2 chr10 122882520 122883255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 122903940 122907834 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr10 122911888 122956539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 12300000 135374737 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDH23,CDHR1,CDK1,CDNF,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GBF1,GDF10,GDF2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC220906,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC387647,LOC387723,LOC399744,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SEPHS1,SEPT7L,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 12300000 17300000 Amplification Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 ACBD7,BEND7,C10orf111,C1QL3,CAMK1D,CCDC3,CDNF,CUBN,DCLRE1C,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEPHS1,SUV39H2,TRDMT1,UCMA,VIM chr10 12300000 17300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACBD7,BEND7,C10orf111,C1QL3,CAMK1D,CCDC3,CDNF,CUBN,DCLRE1C,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEPHS1,SUV39H2,TRDMT1,UCMA,VIM chr10 12300000 17300000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ACBD7,BEND7,C10orf111,C1QL3,CAMK1D,CCDC3,CDNF,CUBN,DCLRE1C,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEPHS1,SUV39H2,TRDMT1,UCMA,VIM chr10 12300000 17300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACBD7,BEND7,C10orf111,C1QL3,CAMK1D,CCDC3,CDNF,CUBN,DCLRE1C,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEPHS1,SUV39H2,TRDMT1,UCMA,VIM chr10 12300000 17300000 Loss Hepatocellular carcinoma Array CGH 16750200 ACBD7,BEND7,C10orf111,C1QL3,CAMK1D,CCDC3,CDNF,CUBN,DCLRE1C,FAM107B,FAM171A1,FAM188A,FRMD4A,HSPA14,ITGA8,LOC100192204,LOC283070,MCM10,MEIG1,MIR1265,MIR4480,NMT2,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEPHS1,SUV39H2,TRDMT1,UCMA,VIM chr10 123036377 123036476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 123075710 123075799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 123100000 127400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADSB,ARMS2,ATE1,BTBD16,BUB3,C10orf120,C10orf88,CHST15,CPXM2,CTBP2,CUZD1,DMBT1,FAM175B,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FGFR2,FLJ37035,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LHPP,LOC100169752,LOC283038,LOC399815,METTL10,MIR3941,MIR4296,NKX1-2,NSMCE4A,OAT,PLEKHA1,PSTK,TACC2,TEX36,ZRANB1 chr10 123100000 127400000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ACADSB,ARMS2,ATE1,BTBD16,BUB3,C10orf120,C10orf88,CHST15,CPXM2,CTBP2,CUZD1,DMBT1,FAM175B,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FGFR2,FLJ37035,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LHPP,LOC100169752,LOC283038,LOC399815,METTL10,MIR3941,MIR4296,NKX1-2,NSMCE4A,OAT,PLEKHA1,PSTK,TACC2,TEX36,ZRANB1 chr10 123100000 127400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADSB,ARMS2,ATE1,BTBD16,BUB3,C10orf120,C10orf88,CHST15,CPXM2,CTBP2,CUZD1,DMBT1,FAM175B,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FGFR2,FLJ37035,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LHPP,LOC100169752,LOC283038,LOC399815,METTL10,MIR3941,MIR4296,NKX1-2,NSMCE4A,OAT,PLEKHA1,PSTK,TACC2,TEX36,ZRANB1 chr10 123100000 127400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ACADSB,ARMS2,ATE1,BTBD16,BUB3,C10orf120,C10orf88,CHST15,CPXM2,CTBP2,CUZD1,DMBT1,FAM175B,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FGFR2,FLJ37035,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LHPP,LOC100169752,LOC283038,LOC399815,METTL10,MIR3941,MIR4296,NKX1-2,NSMCE4A,OAT,PLEKHA1,PSTK,TACC2,TEX36,ZRANB1 chr10 123100000 127400000 Gain Normal - 21541734 ACADSB,ARMS2,ATE1,BTBD16,BUB3,C10orf120,C10orf88,CHST15,CPXM2,CTBP2,CUZD1,DMBT1,FAM175B,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FGFR2,FLJ37035,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LHPP,LOC100169752,LOC283038,LOC399815,METTL10,MIR3941,MIR4296,NKX1-2,NSMCE4A,OAT,PLEKHA1,PSTK,TACC2,TEX36,ZRANB1 chr10 123100000 127400000 Loss Intracranial ependymoma matrix-based CGH 16609018 ACADSB,ARMS2,ATE1,BTBD16,BUB3,C10orf120,C10orf88,CHST15,CPXM2,CTBP2,CUZD1,DMBT1,FAM175B,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FGFR2,FLJ37035,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LHPP,LOC100169752,LOC283038,LOC399815,METTL10,MIR3941,MIR4296,NKX1-2,NSMCE4A,OAT,PLEKHA1,PSTK,TACC2,TEX36,ZRANB1 chr10 123100000 127500000 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 ACADSB,ARMS2,ATE1,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,CHST15,CPXM2,CTBP2,CUZD1,DMBT1,FAM175B,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FGFR2,FLJ37035,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LHPP,LOC100169752,LOC283038,LOC399815,METTL10,MIR3941,MIR4296,MMP21,NKX1-2,NSMCE4A,OAT,PLEKHA1,PSTK,TACC2,TEX36,UROS,ZRANB1 chr10 123100000 130500000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 ACADSB,ADAM12,ARMS2,ATE1,BCCIP,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,CHST15,CLRN3,CPXM2,CTBP2,CUZD1,DHX32,DMBT1,DOCK1,FAM175B,FAM196A,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46361,FOXI2,GPR26,HMX2,HMX3,HTRA1,IKZF5,LHPP,LOC100169752,LOC283038,LOC399815,METTL10,MIR3941,MIR4296,MIR4484,MKI67,MMP21,NKX1-2,NPS,NSMCE4A,OAT,PLEKHA1,PSTK,PTPRE,TACC2,TEX36,UROS,ZRANB1 chr10 123100000 135374737 Deletion Heart disease Illumina 623Quad Beadchip platform 21282601 ACADSB,ADAM12,ADAM8,ARMS2,ATE1,BCCIP,BNIP3,BTBD16,BUB3,C10orf120,C10orf137,C10orf88,C10orf90,C10orf91,CALY,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CUZD1,CYP2E1,DHX32,DMBT1,DOCK1,DPYSL4,EBF3,ECHS1,FAM175B,FAM196A,FAM24A,FAM24B,FAM24B-CUZD1,FAM53B,FANK1,FGFR2,FLJ37035,FLJ46300,FLJ46361,FOXI2,FUOM,GLRX3,GPR123,GPR26,HMX2,HMX3,HTRA1,IKZF5,INPP5A,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LRRC27,METTL10,MGMT,MIR202,MIR378C,MIR3941,MIR3944,MIR4296,MIR4297,MIR4484,MKI67,MMP21,MTG1,NKX1-2,NKX6-2,NPS,NSMCE4A,OAT,PAOX,PLEKHA1,PPP2R2D,PRAP1,PSTK,PTPRE,PWWP2B,SPRN,STK32C,SYCE1,TACC2,TCERG1L,TEX36,TTC40,TUBGCP2,UROS,UTF1,VENTX,ZNF511,ZRANB1 chr10 123104712 123104812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 123134041 123134771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 123160420 123160655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 123160420 123160704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 123160420 123160744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 123218342 123218442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 123223889 123347962 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGFR2 chr10 123223889 123347962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGFR2 chr10 123223889 123347962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGFR2 chr10 123227833 123347962 Amplification Glioblastoma Agilent 244K, Affymetrix SNP6.0 and Illumina 550K 18772890 FGFR2 chr10 123227833 123347962 Copy number Epithelial cancer whole genome tiling path microarray CGH platform 20478067 FGFR2 chr10 123227833 123347962 Copy number Lung cancer - 20668451 FGFR2 chr10 123227833 123347962 Gain or loss Breast cancer - 20668451 FGFR2 chr10 123227833 123347962 Gain or loss Cancer - 20668451 FGFR2 chr10 123227833 123347962 Gain or loss Lung cancer - 20668451 FGFR2 chr10 123227833 123347962 Gain or loss Ovarian cancer - 20668451 FGFR2 chr10 123227833 123347962 Gain or loss Pancreas cancer - 20668451 FGFR2 chr10 123227833 123347962 Gain or loss Prostate cancer - 20668451 FGFR2 chr10 123228996 123229161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 123263324 123337486 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 FGFR2 chr10 1232734 1234762 Copy number Autism exome sequencing 22495311 ADARB2 chr10 123299475 123299575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGFR2 chr10 123309286 123309374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGFR2 chr10 123328965 123356325 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FGFR2 chr10 123328965 123357137 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FGFR2 chr10 123336106 123357137 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FGFR2 chr10 123336181 123337713 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 FGFR2 chr10 123411 133840 Loss or gain Normal 244K array 17666407 NOT_FOUND chr10 123411135 123413528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 123412436 123453693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 123423427 123448743 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 123463111 123463498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 123479171 123479484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 123492616 123677540 Gain and loss Pancreatic cancer SNP array 17952125 ATE1 chr10 123492616 123677936 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATE1 chr10 123492616 123677936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATE1 chr10 123492616 123677936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATE1 chr10 12353812 12353912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 123551 133255 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 123596105 123596202 Gain and loss Pancreatic cancer SNP array 17952125 ATE1 chr10 123596105 123596203 Gain and loss Pancreatic cancer SNP array 17952125 ATE1 chr10 123596105 123596205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATE1 chr10 123651653 125529335 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACADSB,ARMS2,ATE1,BTBD16,BUB3,C10orf120,C10orf88,CPXM2,CUZD1,DMBT1,FAM24A,FAM24B,FAM24B-CUZD1,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LOC399815,MIR3941,NSMCE4A,PLEKHA1,PSTK,TACC2 chr10 123703652 123703752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 123706599 123724722 Gain and loss Pancreatic cancer SNP array 17952125 NSMCE4A chr10 123706601 123724722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NSMCE4A chr10 123706601 123724722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NSMCE4A chr10 123738678 124004047 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TACC2 chr10 123738699 124004049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TACC2 chr10 123738699 124004049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TACC2 chr10 123771441 124004045 Gain and loss Pancreatic cancer SNP array 17952125 TACC2 chr10 123810042 123810136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TACC2 chr10 12382107 12770026 Duplication Honadal dysgenesis Affymetrix Genome-Wide Human SNP Array 6.0 21408189 CAMK1D,MIR4480 chr10 123831501 123912000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TACC2 chr10 123852894 123901335 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TACC2 chr10 123857275 124407767 LOH Normal High-resolution SNP genotyping 21211785 ARMS2,BTBD16,DMBT1,HTRA1,MIR3941,PLEKHA1,TACC2 chr10 123901023 123901123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TACC2 chr10 123912001 123914000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TACC2 chr10 123914001 124430000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARMS2,BTBD16,DMBT1,HTRA1,MIR3941,PLEKHA1,TACC2 chr10 124020811 124087666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD16 chr10 124020811 124087666 Gain and loss Pancreatic cancer SNP array 17952125 BTBD16 chr10 124020811 124087666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD16 chr10 124060449 124060542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTBD16 chr10 124088603 124134052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BTBD16 chr10 124095195 124095298 Gain and loss Pancreatic cancer SNP array 17952125 BTBD16 chr10 124095195 124095298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD16 chr10 124124210 124181856 Gain and loss Pancreatic cancer SNP array 17952125 MIR3941,PLEKHA1 chr10 124124210 124181857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3941,PLEKHA1 chr10 124124210 124181857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3941,PLEKHA1 chr10 124142251 124165452 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLEKHA1 chr10 124146282 124146382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA1 chr10 124158761 124158861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA1 chr10 124183770 124255215 Copy number Maculopathy TaqMan real-time PCR 22355348 ARMS2,HTRA1,PLEKHA1 chr10 124195782 124240486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARMS2,HTRA1 chr10 124206837 124207226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 124211047 124264413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARMS2,HTRA1 chr10 124211047 124264413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMS2,HTRA1 chr10 124211159 124264413 Gain and loss Pancreatic cancer SNP array 17952125 ARMS2,HTRA1 chr10 124221184 124221235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTRA1 chr10 124229261 124229312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTRA1 chr10 124240106 124240206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTRA1 chr10 12424487 12765726 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-654K arrays 21546498 CAMK1D,MIR4480 chr10 124252434 125529335 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACADSB,BUB3,C10orf120,C10orf88,CPXM2,CUZD1,DMBT1,FAM24A,FAM24B,FAM24B-CUZD1,FLJ46361,GPR26,HMX2,HMX3,HTRA1,IKZF5,LOC399815,PSTK chr10 124253065 124444805 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DMBT1,HTRA1 chr10 124253065 124444805 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DMBT1,HTRA1 chr10 124254420 124254494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTRA1 chr10 124275178 124347704 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DMBT1 chr10 124294743 124373604 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DMBT1 chr10 124295811 124350502 Gain Normal aCGH 21627829 DMBT1 chr10 124310171 124393242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DMBT1 chr10 124310171 124393242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DMBT1 chr10 124310171 124394718 Gain and loss Pancreatic cancer SNP array 17952125 DMBT1 chr10 124312066 124312160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 12431738 12911741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMK1D,LOC283070,MIR4480 chr10 12431738 12911741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMK1D,LOC283070,MIR4480 chr10 12431824 12910892 Gain and loss Pancreatic cancer SNP array 17952125 CAMK1D,LOC283070,MIR4480 chr10 124319442 124349050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124323641 124348536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124325281 124336870 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124327650 124327732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMBT1 chr10 124328915 124368832 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DMBT1 chr10 124329348 124338713 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 DMBT1 chr10 124330302 124350392 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DMBT1 chr10 124330302 124350392 Gain Normal aCGH 21627829 DMBT1 chr10 124331299 124331399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMBT1 chr10 124331524 124336968 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DMBT1 chr10 124331524 124341001 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DMBT1 chr10 124331947 124342597 Gain Normal aCGH 21627829 DMBT1 chr10 124335393 124341605 Loss Normal 244K array 17666407 DMBT1 chr10 124336625 124379634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124336968 124341003 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DMBT1 chr10 124339734 124386657 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124340533 124370719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124341003 124347716 Loss Normal Birdsuite, version 1.5.2 22087296 DMBT1 chr10 124341161 124341587 Deletion Medulloblastoma Illumina SNP arrays 21163964 DMBT1 chr10 124342051 124369026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124343619 124376227 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124345097 124348397 Gain Normal aCGH 21627829 DMBT1 chr10 124347949 124377296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124348662 124383067 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124350139 124388839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMBT1 chr10 124350258 124367659 Loss Autism 1M Ailent CGH whole-genome array 21865298 DMBT1 chr10 124350342 124366814 Loss Normal aCGH 21627829 DMBT1 chr10 124350465 124366464 Loss Normal TaqMan assays 20972442 DMBT1 chr10 124392280 124392312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMBT1 chr10 124418745 124418835 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 124426249 124428539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124426264 124428539 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 124431828 124461678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C10orf120 chr10 124432189 124449332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124432189 124449332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124443602 124446307 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 124447218 124449332 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 124455064 124455228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 124455132 124455232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 124471051 124474410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 124478946 124484165 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 124490706 124490806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 124506200 124547151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ46361 chr10 124506200 124547151 Gain and loss Pancreatic cancer SNP array 17952125 FLJ46361 chr10 124506200 124547151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ46361 chr10 124563726 124563805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 124563816 124564049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 124563823 124563933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 12457210 12457258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK1D chr10 124573184 124575849 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 124573184 124602708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUZD1,FAM24B-CUZD1 chr10 124581655 124600299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUZD1,FAM24B-CUZD1 chr10 124581655 124600299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUZD1,FAM24B-CUZD1 chr10 124581661 124629068 Gain and loss Pancreatic cancer SNP array 17952125 CUZD1,FAM24B,FAM24B-CUZD1 chr10 124585856 124585956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 124598602 124629147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUZD1,FAM24B,FAM24B-CUZD1 chr10 124598602 124629147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUZD1,FAM24B,FAM24B-CUZD1 chr10 124633285 124638116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM24B,FAM24B-CUZD1 chr10 124633285 124638116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM24B,FAM24B-CUZD1 chr10 124643966 124644268 Gain and loss Pancreatic cancer SNP array 17952125 LOC399815 chr10 124643966 124644268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC399815 chr10 124660207 124662617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124660207 124662617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124676555 124676655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 124681016 124703738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf88 chr10 124681016 124703738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf88 chr10 124681016 124703763 Gain and loss Pancreatic cancer SNP array 17952125 C10orf88 chr10 124729546 124739898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSTK chr10 124729546 124739898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSTK chr10 124729920 124737009 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 124732193 124765558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IKZF5,PSTK chr10 124735997 124736219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 124742295 124755272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IKZF5,PSTK chr10 124743189 124758304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF5,PSTK chr10 124743282 124758311 Gain and loss Pancreatic cancer SNP array 17952125 IKZF5,PSTK chr10 124758419 124807796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACADSB,IKZF5 chr10 124758419 124807796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACADSB,IKZF5 chr10 124758524 124807795 Gain and loss Pancreatic cancer SNP array 17952125 ACADSB,IKZF5 chr10 124794332 124794432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACADSB chr10 124882501 124901000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HMX3 chr10 124885439 124885679 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr10 124885557 124887237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124885557 124887237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 124885557 124887237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124886952 124887038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124897628 124900178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124897628 124900178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124897885 124899629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 124899361 124899448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 124903860 124914869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BUB3,HMX2 chr10 124903860 124914869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BUB3,HMX2 chr10 124903921 124914869 Gain and loss Pancreatic cancer SNP array 17952125 BUB3,HMX2 chr10 124921038 124921376 Gain and loss Pancreatic cancer SNP array 17952125 BUB3 chr10 124921041 124921381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BUB3 chr10 124946768 124978091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 12497933 12498004 Gain and loss Pancreatic cancer SNP array 17952125 CAMK1D chr10 125000000 135374737 Deletion abnormal development HR-CGH, Array-CGH 18461090 ADAM12,ADAM8,BCCIP,BNIP3,C10orf137,C10orf90,C10orf91,CALY,CHST15,CLRN3,CPXM2,CTAGE7P,CTBP2,CYP2E1,DHX32,DOCK1,DPYSL4,EBF3,ECHS1,FAM175B,FAM196A,FAM53B,FANK1,FLJ37035,FLJ46300,FOXI2,FUOM,GLRX3,GPR123,GPR26,INPP5A,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399829,LOC619207,LRRC27,METTL10,MGMT,MIR202,MIR378C,MIR3944,MIR4296,MIR4297,MIR4484,MKI67,MMP21,MTG1,NKX1-2,NKX6-2,NPS,OAT,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TEX36,TTC40,TUBGCP2,UROS,UTF1,VENTX,ZNF511,ZRANB1 chr10 125026427 125026527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 125047207 125259149 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 125057756 126954997 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 CHST15,CPXM2,CTBP2,FAM175B,FAM53B,GPR26,LHPP,METTL10,MIR4296,NKX1-2,OAT,ZRANB1 chr10 125077472 125077572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 12510872 12510972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK1D chr10 125191935 125191967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 125264784 127129820 LOH Normal High-resolution SNP genotyping 21211785 CHST15,CPXM2,CTBP2,FAM175B,FAM53B,GPR26,LHPP,METTL10,MIR4296,NKX1-2,OAT,ZRANB1 chr10 125268462 125268562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 125326136 125326236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 125346575 125346675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 12535542 12594552 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CAMK1D chr10 125368923 125369004 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 125399885 125399985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 125415861 125444113 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPR26 chr10 125415861 125444113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR26 chr10 125415861 125444113 Gain and loss Pancreatic cancer SNP array 17952125 GPR26 chr10 125415861 125444113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR26 chr10 125432620 125432680 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 GPR26 chr10 125443428 125443485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR26 chr10 125444692 125446901 Gain and loss Pancreatic cancer SNP array 17952125 GPR26 chr10 125462782 125641490 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPXM2 chr10 125462782 125641490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPXM2 chr10 125462782 125641490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPXM2 chr10 125463168 125463268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 125484256 125484362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 125495142 125641490 Gain and loss Pancreatic cancer SNP array 17952125 CPXM2 chr10 125573789 125575973 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CPXM2 chr10 125622668 125622779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPXM2 chr10 125660985 125661067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 125740501 126199500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHST15,LHPP,NKX1-2,OAT chr10 125741407 125742175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 125741416 125742175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 125753810 125754334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 125757210 125841898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHST15 chr10 125757210 125841898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST15 chr10 125757210 125843093 Gain and loss Pancreatic cancer SNP array 17952125 CHST15 chr10 125758160 125758260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 125771273 125771357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST15 chr10 125794410 125794698 Loss Normal 244K array 17666407 CHST15 chr10 125841547 125841631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST15 chr10 125917660 125917766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 12598501 12604500 Deletion Glioma mate-paired sequence 20126413 CAMK1D chr10 12598502 12598602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK1D chr10 126000000 135374737 Deletion abnormal development HR-CGH, Array-CGH 18461090 ADAM12,ADAM8,BCCIP,BNIP3,C10orf137,C10orf90,C10orf91,CALY,CLRN3,CTAGE7P,CTBP2,CYP2E1,DHX32,DOCK1,DPYSL4,EBF3,ECHS1,FAM175B,FAM196A,FAM53B,FANK1,FLJ37035,FLJ46300,FOXI2,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LHPP,LOC100169752,LOC283038,LOC387723,LOC399829,LOC619207,LRRC27,METTL10,MGMT,MIR202,MIR378C,MIR3944,MIR4296,MIR4297,MIR4484,MKI67,MMP21,MTG1,NKX1-2,NKX6-2,NPS,OAT,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TEX36,TTC40,TUBGCP2,UROS,UTF1,VENTX,ZNF511,ZRANB1 chr10 12600466 12602979 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAMK1D chr10 126013059 126013208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 126053307 126053339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 126056245 126075084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 126059930 126060020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 126073274 126073374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 126075862 126097450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OAT chr10 126075862 126097450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OAT chr10 126075869 126097467 Gain and loss Pancreatic cancer SNP array 17952125 OAT chr10 126125993 126128502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 126125993 126128502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 126126294 126126410 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 126140377 126292700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LHPP chr10 126140377 126292700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LHPP chr10 126140394 126292699 Gain and loss Pancreatic cancer SNP array 17952125 LHPP chr10 126143342 126144544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 126168382 126169137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LHPP chr10 126193027 126665243 Gain Prostate cancer Array CGH 18632612 FAM175B,FAM53B,LHPP,METTL10,ZRANB1 chr10 126199501 126353500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM53B,LHPP chr10 126216311 126216849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LHPP chr10 126229576 126230517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LHPP chr10 126264776 126426935 Duplication Schizophrenia NimbleGen HD2 platform 21346763 FAM53B,LHPP chr10 126264784 126362143 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM53B,LHPP chr10 126270583 126358673 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM53B,LHPP chr10 126270583 126362143 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM53B,LHPP chr10 126277134 126312137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM53B,LHPP chr10 126293064 126293160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LHPP chr10 126295639 126470427 Gain and loss Pancreatic cancer SNP array 17952125 FAM53B,LHPP,METTL10 chr10 126297853 126422920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM53B,LHPP chr10 126297853 126422920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM53B,LHPP chr10 126298824 126298889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LHPP chr10 126320467 126352638 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM53B chr10 126320950 126362143 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM53B chr10 126353501 126423500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM53B chr10 12636208 12636588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAMK1D chr10 126372690 126372790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM53B chr10 126421016 126421095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM53B chr10 126428009 128533442 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM12,BCCIP,C10orf137,C10orf90,CTBP2,DHX32,FAM175B,FAM53B,FANK1,FLJ37035,LOC100169752,LOC283038,METTL10,MIR4296,MIR4484,MMP21,TEX36,UROS,ZRANB1 chr10 126437396 126470429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 METTL10 chr10 126437396 126470429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL10 chr10 126444755 126444854 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 126444755 126444855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 126444755 126444856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 126447791 126447891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METTL10 chr10 126448975 126449075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METTL10 chr10 126480344 126515228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM175B,METTL10 chr10 126480344 126515228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM175B,METTL10 chr10 126480377 126515226 Gain and loss Pancreatic cancer SNP array 17952125 FAM175B,METTL10 chr10 12648682 14740476 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BEND7,CAMK1D,CCDC3,FAM107B,FRMD4A,LOC283070,MCM10,MIR1265,OPTN,PHYH,PRPF18,SEPHS1,UCMA chr10 126493517 126493621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM175B chr10 126493519 126493621 Gain and loss Pancreatic cancer SNP array 17952125 FAM175B chr10 126518901 126553738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM175B chr10 126546069 126546885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 126610000 131820000 Deletion Sezary syndrome Array-based CGH 18413736 ADAM12,BCCIP,C10orf137,C10orf90,CLRN3,CTBP2,DHX32,DOCK1,EBF3,FAM196A,FANK1,FLJ37035,FOXI2,LOC100169752,LOC283038,MGMT,MIR4296,MIR4297,MIR4484,MKI67,MMP21,NPS,PTPRE,TEX36,UROS,ZRANB1 chr10 126620681 126665995 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZRANB1 chr10 126620681 126665995 Gain or loss Breast cancer - 20668451 ZRANB1 chr10 126620681 126665995 Gain or loss Cancer - 20668451 ZRANB1 chr10 126620681 126665995 Gain or loss Lung cancer - 20668451 ZRANB1 chr10 126620681 126665995 Gain or loss Ovarian cancer - 20668451 ZRANB1 chr10 126620681 126665995 Gain or loss Pancreas cancer - 20668451 ZRANB1 chr10 126620681 126665995 Gain or loss Prostate cancer - 20668451 ZRANB1 chr10 126620682 126665019 Gain and loss Pancreatic cancer SNP array 17952125 ZRANB1 chr10 126620682 126665995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZRANB1 chr10 126620682 126665995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZRANB1 chr10 126631862 126716070 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CTBP2,ZRANB1 chr10 126664979 127400271 Deletion Normal Arbitrated Peel-off 21527027 CTBP2,FLJ37035,LOC100169752,LOC283038,MIR4296,TEX36,ZRANB1 chr10 126664979 127400271 Deletion Normal GeneGISTIC 21527027 CTBP2,FLJ37035,LOC100169752,LOC283038,MIR4296,TEX36,ZRANB1 chr10 126664979 127400271 Deletion Normal Standard peel-off 21527027 CTBP2,FLJ37035,LOC100169752,LOC283038,MIR4296,TEX36,ZRANB1 chr10 126666408 126839093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTBP2,MIR4296,ZRANB1 chr10 126666408 126839093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTBP2,MIR4296,ZRANB1 chr10 126666894 126839585 Gain and loss Pancreatic cancer SNP array 17952125 CTBP2,MIR4296,ZRANB1 chr10 126669001 126675000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZRANB1 chr10 126675001 126684000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTBP2,ZRANB1 chr10 126684001 126910500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTBP2,MIR4296 chr10 126691177 126691232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTBP2 chr10 126692805 126708138 Deletion Normal Standard GISTIC 21527027 CTBP2 chr10 1266965 1302291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADARB2 chr10 126758494 126782410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTBP2 chr10 126765478 126765578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTBP2 chr10 126772983 126804244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTBP2 chr10 126819411 126819443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTBP2 chr10 126845236 126846677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTBP2 chr10 126905270 126905812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 126905270 126905812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 126911748 126940688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 126915503 126942475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 12697458 12697715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAMK1D chr10 126980000 133890000 Loss Breast cancer aCGH 21509527 ADAM12,BCCIP,BNIP3,C10orf137,C10orf90,CLRN3,CTAGE7P,DHX32,DOCK1,EBF3,FAM196A,FANK1,FLJ37035,FLJ46300,FOXI2,GLRX3,LOC100169752,LOC283038,LOC387723,MGMT,MIR378C,MIR4297,MIR4484,MKI67,MMP21,NPS,PPP2R2D,PTPRE,TCERG1L,TEX36,UROS chr10 127022184 127022216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 127022450 127023451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 127029976 127030076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 127069240 127114084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 127135896 127160086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 127152245 127152491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 127163208 127186616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 127181646 127187224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 127197232 127197438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 127253341 127970593 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM12,BCCIP,C10orf137,DHX32,FANK1,FLJ37035,LOC100169752,LOC283038,MIR4484,MMP21,TEX36,UROS chr10 127300000 131500000 Gain Normal Human genome CGH 38k ARRAY PLATFORM 22144094 ADAM12,BCCIP,C10orf137,C10orf90,CLRN3,DHX32,DOCK1,FAM196A,FANK1,FLJ37035,FOXI2,LOC283038,MGMT,MIR4484,MKI67,MMP21,NPS,PTPRE,TEX36,UROS chr10 127334260 127361703 Gain and loss Pancreatic cancer SNP array 17952125 TEX36 chr10 127334459 127361665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEX36 chr10 127334459 127361665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX36 chr10 127345434 127346509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX36 chr10 127347624 127380445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC283038,TEX36 chr10 127381351 127381451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283038 chr10 127385612 127386177 Gain and loss Pancreatic cancer SNP array 17952125 LOC283038 chr10 127398073 127442702 Copy number Lung cancer - 20668451 C10orf137,FLJ37035,LOC283038 chr10 127398073 127442702 Gain or loss Breast cancer - 20668451 C10orf137,FLJ37035,LOC283038 chr10 127398073 127442702 Gain or loss Cancer - 20668451 C10orf137,FLJ37035,LOC283038 chr10 127398073 127442702 Gain or loss Lung cancer - 20668451 C10orf137,FLJ37035,LOC283038 chr10 127398073 127442702 Gain or loss Ovarian cancer - 20668451 C10orf137,FLJ37035,LOC283038 chr10 127398073 127442702 Gain or loss Pancreas cancer - 20668451 C10orf137,FLJ37035,LOC283038 chr10 127398073 127442702 Gain or loss Prostate cancer - 20668451 C10orf137,FLJ37035,LOC283038 chr10 127398074 127442702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf137,FLJ37035,LOC283038 chr10 127398074 127442702 Gain and loss Pancreatic cancer SNP array 17952125 C10orf137,FLJ37035,LOC283038 chr10 127398074 127442702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf137,FLJ37035,LOC283038 chr10 127400000 130500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM12,BCCIP,C10orf137,C10orf90,CLRN3,DHX32,DOCK1,FAM196A,FANK1,FLJ37035,FOXI2,MIR4484,MKI67,MMP21,NPS,PTPRE,UROS chr10 127400000 130500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADAM12,BCCIP,C10orf137,C10orf90,CLRN3,DHX32,DOCK1,FAM196A,FANK1,FLJ37035,FOXI2,MIR4484,MKI67,MMP21,NPS,PTPRE,UROS chr10 127400000 135374737 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADAM12,ADAM8,BCCIP,BNIP3,C10orf137,C10orf90,C10orf91,CALY,CLRN3,CTAGE7P,CYP2E1,DHX32,DOCK1,DPYSL4,EBF3,ECHS1,FAM196A,FANK1,FLJ37035,FLJ46300,FOXI2,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MIR4484,MKI67,MMP21,MTG1,NKX6-2,NPS,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UROS,UTF1,VENTX,ZNF511 chr10 127400623 127400773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ37035 chr10 127411228 127411328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf137 chr10 127434752 127508528 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C10orf137,MIR4484,MMP21,UROS chr10 127435342 127435655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf137 chr10 127443890 127776692 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADAM12,BCCIP,C10orf137,DHX32,FANK1,MIR4484,MMP21,UROS chr10 127445015 127454380 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C10orf137 chr10 127445019 127454380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf137 chr10 127445019 127454380 Gain and loss Pancreatic cancer SNP array 17952125 C10orf137 chr10 127445019 127454380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf137 chr10 127462279 127508528 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR4484,MMP21,UROS chr10 127466409 127508528 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR4484,UROS chr10 127467136 127501827 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 UROS chr10 127467138 127501786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UROS chr10 127467138 127501786 Gain and loss Pancreatic cancer SNP array 17952125 UROS chr10 127467138 127501786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UROS chr10 127482393 127483878 Gain Normal 244K array 17666407 UROS chr10 127500000 130600000 Gain Gastric cancer Array CGH 16891809 ADAM12,BCCIP,C10orf90,CLRN3,DHX32,DOCK1,FAM196A,FANK1,FOXI2,MIR4484,MKI67,NPS,PTPRE,UROS chr10 127500000 135534747 Loss and deletion Multiple myeloma Array CGH 16616336 ADAM12,ADAM8,BCCIP,BNIP3,C10orf90,C10orf91,CALY,CLRN3,CTAGE7P,CYP2E1,DHX32,DOCK1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,FAM196A,FANK1,FLJ46300,FOXI2,FRG2B,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MIR4484,MKI67,MTG1,NKX6-2,NPS,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,SPRNP1,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UROS,UTF1,VENTX,ZNF511 chr10 127502094 127532139 Gain and loss Pancreatic cancer SNP array 17952125 BCCIP,DHX32,MIR4484,UROS chr10 127502105 127532080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCCIP,DHX32,MIR4484,UROS chr10 127502105 127532080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCCIP,DHX32,MIR4484,UROS chr10 127514896 127559874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCCIP,DHX32 chr10 127514896 127559874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCCIP,DHX32 chr10 127514899 127575017 Gain and loss Pancreatic cancer SNP array 17952125 BCCIP,DHX32 chr10 127521503 127521588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCCIP chr10 127553824 128086063 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADAM12,DHX32,FANK1 chr10 127558562 127597572 Gain Normal TaqMan assays 20972442 DHX32,FANK1 chr10 127560651 127596176 Copy number Lung cancer paired-end sequencing 18438408 DHX32,FANK1 chr10 127561964 127579271 Copy number Lung cancer paired-end sequencing 18438408 DHX32 chr10 127562601 127613200 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHX32,FANK1 chr10 127564001 127574500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHX32 chr10 127564767 127564840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DHX32 chr10 127569035 127569237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX32 chr10 127569086 127569237 Gain and loss Pancreatic cancer SNP array 17952125 DHX32 chr10 127569172 127569237 Gain and loss Pancreatic cancer SNP array 17952125 DHX32 chr10 127574501 127584500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 127575097 127688151 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FANK1 chr10 127575098 127688151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FANK1 chr10 127575098 127688151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FANK1 chr10 127584501 127605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FANK1 chr10 127593754 127630291 Gain Normal Birdsuite, version 1.5.2 22087296 FANK1 chr10 127601058 135374737 Copy number Lung cancer paired-end sequencing 18438408 ADAM12,ADAM8,BNIP3,C10orf90,C10orf91,CALY,CLRN3,CTAGE7P,CYP2E1,DOCK1,DPYSL4,EBF3,ECHS1,FAM196A,FANK1,FLJ46300,FOXI2,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MKI67,MTG1,NKX6-2,NPS,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 127603552 127607467 Gain Normal 244K array 17666407 FANK1 chr10 127618698 135374737 Copy number Lung cancer paired-end sequencing 18438408 ADAM12,ADAM8,BNIP3,C10orf90,C10orf91,CALY,CLRN3,CTAGE7P,CYP2E1,DOCK1,DPYSL4,EBF3,ECHS1,FAM196A,FANK1,FLJ46300,FOXI2,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MKI67,MTG1,NKX6-2,NPS,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 127638767 127638965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FANK1 chr10 127693415 128067055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM12,FANK1 chr10 127693415 128067055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM12,FANK1 chr10 127693831 128067014 Gain and loss Pancreatic cancer SNP array 17952125 ADAM12,FANK1 chr10 127702901 128077127 Duplication LiNormalfraumeni syndrome Affymetrix GeneChip 250K Nsp microarray 18685109 ADAM12 chr10 127719062 127719162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM12 chr10 127727920 128173298 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ADAM12,C10orf90 chr10 127733101 127738000 Deletion Glioma mate-paired sequence 20126413 ADAM12 chr10 127735171 127735970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADAM12 chr10 127741551 127741651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM12 chr10 127759247 127759347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM12 chr10 12776868 12776968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK1D chr10 127789094 128089351 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ADAM12 chr10 127819688 127819786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM12 chr10 127824033 127824141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM12 chr10 127824052 127824141 Gain and loss Pancreatic cancer SNP array 17952125 ADAM12 chr10 127824052 127824141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM12 chr10 127832427 129796619 Loss Prostate cancer Array CGH 18632612 ADAM12,C10orf90,CLRN3,DOCK1,FAM196A,FOXI2,NPS,PTPRE chr10 127879341 127879417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADAM12 chr10 127912549 127945711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADAM12 chr10 127951377 127951975 Gain and loss Pancreatic cancer SNP array 17952125 ADAM12 chr10 127951377 127951975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM12 chr10 127981161 133367170 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAM12,C10orf90,CLRN3,CTAGE7P,DOCK1,EBF3,FAM196A,FOXI2,GLRX3,LOC387723,MGMT,MIR378C,MIR4297,MKI67,NPS,PTPRE,TCERG1L chr10 1280394 1280469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 12807253 12807357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMK1D chr10 128096463 128096776 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 128103556 128203382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf90 chr10 128103556 128203382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf90 chr10 128104331 128200000 Gain and loss Pancreatic cancer SNP array 17952125 C10orf90 chr10 128104489 128139516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf90 chr10 128108280 128108377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 128140522 128185309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C10orf90 chr10 128180749 135165811 Loss Prostate cancer Array CGH 18632612 ADAM8,BNIP3,C10orf90,C10orf91,CALY,CLRN3,CTAGE7P,DOCK1,DPYSL4,EBF3,FAM196A,FLJ46300,FOXI2,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LRRC27,MGMT,MIR202,MIR378C,MIR4297,MKI67,NKX6-2,NPS,PPP2R2D,PRAP1,PTPRE,PWWP2B,STK32C,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 128206479 128206548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf90 chr10 128216217 128218373 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 128216953 128217073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 128235522 128235623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 128270000 132690000 Copy number Cognitive impairment - 21505072 CLRN3,CTAGE7P,DOCK1,EBF3,FAM196A,FOXI2,GLRX3,LOC387723,MGMT,MIR4297,MKI67,NPS,PTPRE chr10 128298929 128298993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 128300000 132700000 Copy number Cognitive impairment - 21505072 CLRN3,CTAGE7P,DOCK1,EBF3,FAM196A,FOXI2,GLRX3,LOC387723,MGMT,MIR4297,MKI67,NPS,PTPRE chr10 128306000 128308799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 128332262 128667852 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-642K arrays 21546498 DOCK1 chr10 128338419 128371868 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 128360555 128360655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 128361479 128559816 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr10 128385057 128385157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 12841507 12868766 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CAMK1D chr10 128435278 128435378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 128458261 128458333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 128458261 128458333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 128504333 128524240 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 128527868 128527927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 128578839 128582195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 128584013 129140764 Gain and loss Pancreatic cancer SNP array 17952125 DOCK1,FAM196A chr10 128584013 129140770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK1,FAM196A chr10 128584013 129140770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK1,FAM196A chr10 128595423 128595611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOCK1 chr10 128599366 128599459 Gain and loss Pancreatic cancer SNP array 17952125 DOCK1 chr10 128599366 128599462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK1 chr10 128599366 128599465 Gain and loss Pancreatic cancer SNP array 17952125 DOCK1 chr10 128606886 128606931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 12865495 12865584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK1D chr10 128656441 128681141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DOCK1 chr10 128662416 129042087 Deletion Intellectual disability Array CGH 22102821 DOCK1,FAM196A chr10 128746317 128746971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOCK1 chr10 12876845 14740476 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BEND7,CCDC3,FAM107B,FRMD4A,LOC283070,MCM10,MIR1265,OPTN,PHYH,PRPF18,SEPHS1,UCMA chr10 128779316 131482412 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CLRN3,DOCK1,FAM196A,FOXI2,MGMT,MKI67,NPS,PTPRE chr10 128780181 135356694 Loss Developmental delay affymetrix genechip 500K/SNP 6.45 array 21147756 ADAM8,BNIP3,C10orf91,CALY,CLRN3,CTAGE7P,CYP2E1,DOCK1,DPYSL4,EBF3,ECHS1,FAM196A,FLJ46300,FOXI2,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MKI67,MTG1,NKX6-2,NPS,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,STK32C,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 128798515 129129012 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DOCK1,FAM196A chr10 128814467 128814567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 128823680 128884412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK1 chr10 128823680 128884412 Gain and loss Pancreatic cancer SNP array 17952125 DOCK1 chr10 128823680 128884412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK1 chr10 128911030 128911109 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOCK1 chr10 128949001 128950500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DOCK1,FAM196A chr10 129000634 129000712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 129013806 129013883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 129013943 129014016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 129032790 129032835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 129095695 129095784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 129112073 129112173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 129135618 129582283 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DOCK1,FOXI2,NPS chr10 129152612 129152712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 12915998 12916098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 129178670 129178770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 129187343 129207616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DOCK1 chr10 129190210 129190302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 129190293 129190368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK1 chr10 1291912 1292101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 129217079 129262188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DOCK1 chr10 129237603 129240925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK1 chr10 129286585 129286685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 129315241 129315301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 129321586 129321686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 129325001 129326000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 129408501 129409500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 129424001 129429000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 129424313 129424959 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 129424313 129424959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 129425504 129429440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 129425504 129429440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 129426815 129427219 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 129427500 135165800 Loss Prostate cancer Array CGH 18632612 ADAM8,BNIP3,C10orf91,CALY,CLRN3,CTAGE7P,DPYSL4,EBF3,FLJ46300,FOXI2,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LRRC27,MGMT,MIR202,MIR378C,MIR4297,MKI67,NKX6-2,PPP2R2D,PRAP1,PTPRE,PWWP2B,STK32C,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 129428058 129428481 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 129429001 129690000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLRN3,FOXI2 chr10 12944261 12979172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC3 chr10 129455293 129455598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 129474188 129509631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 129529872 129529972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 129566104 129581201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 129566104 129581201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 129566104 129581201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 129574441 129574541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 129586790 129586890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 129595315 129774155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLRN3,PTPRE chr10 129595315 129774155 Gain and loss Pancreatic cancer SNP array 17952125 CLRN3,PTPRE chr10 129595315 129774155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLRN3,PTPRE chr10 1 29600000 Gain Breast cancer Microarray-based CGH 17133270 ABI1,ACBD5,ACBD7,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,APBB1IP,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CUBN,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GAD2,GATA3,GDI2,GPR158,GPR158-AS1,GTPBP4,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIAA1217,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100499489,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MKX,MLLT10,MPP7,MRC1,MSRB2,MYO3A,NEBL,NET1,NMT2,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZMYND11 chr10 129634641 129634854 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 129656269 129656378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 129686061 135315306 Gain Prostate cancer Array CGH 18632612 ADAM8,BNIP3,C10orf91,CALY,CLRN3,CTAGE7P,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MKI67,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,STK32C,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 129690001 129767500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLRN3,PTPRE chr10 129772240 129773472 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PTPRE chr10 129775658 129811831 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTPRE chr10 129784913 129814645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRE chr10 129784913 129814645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRE chr10 129784913 129814645 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PTPRE chr10 129784917 129814458 Gain and loss Pancreatic cancer SNP array 17952125 PTPRE chr10 12978633 13083710 Gain and loss Pancreatic cancer SNP array 17952125 CCDC3 chr10 12978633 13181658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC3,OPTN chr10 12978633 13181658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC3,OPTN chr10 129809831 129809910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRE chr10 129812260 135374737 Deletion Cancer Affymetrix 250K Sty array 20164920 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MKI67,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PTPRE,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 129825568 129825874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRE chr10 129836555 129836874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRE chr10 129841654 129841752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRE chr10 129865241 129865326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRE chr10 129897543 129897593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MKI67 chr10 129956458 130059553 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 129994327 130018298 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 1 3000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC282980,LOC399708,MIR5699,TUBB8,WDR37,ZMYND11 chr10 1 3000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC282980,LOC399708,MIR5699,TUBB8,WDR37,ZMYND11 chr10 1 3000000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC282980,LOC399708,MIR5699,TUBB8,WDR37,ZMYND11 chr10 1 3000000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC282980,LOC399708,MIR5699,TUBB8,WDR37,ZMYND11 chr10 1 3000000 Gain or loss Breast cancer Microarray-based CGH 17133270 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC282980,LOC399708,MIR5699,TUBB8,WDR37,ZMYND11 chr10 1 3000000 Gain Pilocytic astrocytoma Array CGH 18622384 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC282980,LOC399708,MIR5699,TUBB8,WDR37,ZMYND11 chr10 1 3000000 Gain Pilomyxoid astrocytoma Array CGH 18622384 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC282980,LOC399708,MIR5699,TUBB8,WDR37,ZMYND11 chr10 130016394 130016468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130035074 130035172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130052284 130052334 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 13006691 13006788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC3 chr10 13006704 13006790 Gain and loss Pancreatic cancer SNP array 17952125 CCDC3 chr10 130080391 130080489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130128708 130128778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130139654 130163397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130144351 130157921 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130146073 130162180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130146904 130167581 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130150405 130155431 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130152811 130158320 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130271626 130271932 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 13028025 14047424 LOH Normal High-resolution SNP genotyping 21211785 BEND7,CCDC3,FRMD4A,MCM10,OPTN,PHYH,PRPF18,SEPHS1,UCMA chr10 130284446 130284541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130341609 130341647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130344233 130344333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130374570 130419230 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130500000 135374737 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Deletion Melanoma MLPA assay 21693616 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Deletion Melanoma Multiplex Ligation-Dependent Probe Amplification 21693616 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Gain Intracranial ependymoma matrix-based CGH 16609018 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Gain Normal Human genome CGH 72k ARRAY PLATFORM 22144094 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Loss Intracranial ependymoma matrix-based CGH 16609018 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130500000 135374737 Translocation Developmental delay FISH 19490664 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,EBF3,ECHS1,FLJ46300,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130573003 130573092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130581147 130626008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130600000 135534747 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,FLJ46300,FRG2B,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,SPRNP1,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130600000 135534747 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,FLJ46300,FRG2B,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,SPRNP1,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130600000 135534747 Loss Basal cell lymphoma Array CGH 16317097 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,FLJ46300,FRG2B,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,SPRNP1,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130600000 135534747 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,FLJ46300,FRG2B,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,SPRNP1,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130600000 135534747 Loss Pilocytic astrocytoma Affymetrix GeneChip HG_U133A 18670637 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,FLJ46300,FRG2B,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,SPRNP1,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130600000 135534747 Loss Prostate cancer Array CGH 16461572 ADAM8,BNIP3,C10orf91,CALY,CTAGE7P,CYP2E1,DPYSL4,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,FLJ46300,FRG2B,FUOM,GLRX3,GPR123,INPP5A,JAKMIP3,KNDC1,LOC387723,LOC399829,LOC619207,LRRC27,MGMT,MIR202,MIR378C,MIR3944,MIR4297,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,SPRNP1,STK32C,SYCE1,TCERG1L,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 130601135 130603424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 130621606 130621651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130649980 130650080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130656615 130701443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130710671 130710771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130726862 130727264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 130765053 130765167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130789381 130789481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130800489 130829095 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 130858941 130859131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130860843 130860943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 130915421 130915583 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 130923355 130955545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 130991565 130991665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 131021665 131066996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 131046641 131046724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 13107363 13107463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 131155443 131455773 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MGMT chr10 131155455 131455358 Gain or loss Breast cancer - 20668451 MGMT chr10 131155455 131455358 Gain or loss Cancer - 20668451 MGMT chr10 131155455 131455358 Gain or loss Lung cancer - 20668451 MGMT chr10 131155455 131455358 Gain or loss Ovarian cancer - 20668451 MGMT chr10 131155455 131455358 Gain or loss Pancreas cancer - 20668451 MGMT chr10 131155455 131455358 Gain or loss Prostate cancer - 20668451 MGMT chr10 131155510 131455356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGMT chr10 131155510 131455356 Gain and loss Pancreatic cancer SNP array 17952125 MGMT chr10 131155510 131455356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGMT chr10 131169436 131169516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 131192476 131226033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 131198874 131199515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 131210423 131210513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 131214926 131215016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 131215760 132635356 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 CTAGE7P,EBF3,GLRX3,LOC387723,MGMT,MIR4297 chr10 131252183 131252283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 131310343 131310425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGMT chr10 131311718 131311818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGMT chr10 131315559 131315591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGMT chr10 131319598 131320601 Loss Normal 244K array 17666407 MGMT chr10 131342037 131342137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGMT chr10 131359171 131359246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGMT chr10 131379001 133505000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTAGE7P,EBF3,GLRX3,LOC387723,MGMT,MIR378C,MIR4297,TCERG1L chr10 13139908 13140682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 131475637 131477545 Gain and loss Pancreatic cancer SNP array 17952125 MGMT chr10 131482412 131755452 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 EBF3,MGMT,MIR4297 chr10 131485168 131485463 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MGMT chr10 131522429 131652081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EBF3,MGMT,MIR4297 chr10 131522429 131652081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EBF3,MGMT,MIR4297 chr10 131523536 131652081 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 EBF3,MGMT,MIR4297 chr10 131524704 131652528 Gain and loss Pancreatic cancer SNP array 17952125 EBF3,MGMT,MIR4297 chr10 13156440 13298272 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MCM10,OPTN,UCMA chr10 131564875 131564954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGMT chr10 131618031 131650135 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EBF3,MIR4297 chr10 131688099 131688131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EBF3 chr10 131701360 132309914 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CTAGE7P,EBF3,GLRX3,LOC387723 chr10 131721032 131721126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EBF3 chr10 131755452 134567764 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 BNIP3,C10orf91,CTAGE7P,DPYSL4,EBF3,FLJ46300,GLRX3,INPP5A,JAKMIP3,LOC387723,LRRC27,MIR378C,PPP2R2D,PWWP2B,STK32C,TCERG1L chr10 131758823 131758912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EBF3 chr10 131794263 131797085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 131794263 131797085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 131806790 131806890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 131812562 131906600 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CTAGE7P,LOC387723 chr10 13181455 13219285 Gain and loss Pancreatic cancer SNP array 17952125 MCM10 chr10 13181455 13220297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCM10 chr10 13181455 13220297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM10 chr10 131820024 131820495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 131824653 131868630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC387723 chr10 131824653 131868630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC387723 chr10 131824655 131868630 Gain and loss Pancreatic cancer SNP array 17952125 LOC387723 chr10 131833021 131833121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 13186581 13186778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 131875893 131876483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC387723 chr10 131953883 131953983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLRX3 chr10 131958508 131958597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLRX3 chr10 131991324 131991356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132052806 132053015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132053017 132053215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132064967 132081510 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 132086855 132086955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132121586 132145815 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 132138930 132138998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132159679 132159750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 1 32166865 Amplification Normal Arbitrated Peel-off 21527027 ABI1,ACBD5,ACBD7,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CUBN,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GAD2,GATA3,GDI2,GPR158,GPR158-AS1,GTPBP4,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIAA1217,KIAA1462,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100499489,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MYO3A,NEBL,NET1,NMT2,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF438 chr10 1 32166865 Amplification Normal Standard peel-off 21527027 ABI1,ACBD5,ACBD7,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CUBN,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GAD2,GATA3,GDI2,GPR158,GPR158-AS1,GTPBP4,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIAA1217,KIAA1462,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100499489,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MYO3A,NEBL,NET1,NMT2,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF438 chr10 132193360 132193456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 132193361 132193453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 132193361 132193453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 13221202 13221539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM10 chr10 13223635 13223720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCM10 chr10 13224191 13224983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM10 chr10 132248483 132281257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 132259850 132259997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 132262170 132262314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 132319226 132319326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132370165 132370245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132378623 132378723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 13238684 13240142 Gain and loss Pancreatic cancer SNP array 17952125 MCM10 chr10 13238690 13240142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCM10 chr10 13238690 13240142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM10 chr10 13241483 13241783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM10 chr10 13243587 13293101 Gain and loss Pancreatic cancer SNP array 17952125 MCM10,UCMA chr10 13243587 13293110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCM10,UCMA chr10 13243587 13293110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM10,UCMA chr10 132446001 132450300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 132460216 132460305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132473666 132474133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 132476725 132476796 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 132499222 132543974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 132525871 132528471 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 132526022 132528726 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 13259144 13259244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132634703 132634803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132673701 132673801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132703737 132703814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132716106 132716192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 132716239 132716325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 132748462 132748810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 1327491 1425212 Gain Normal Birdsuite, version 1.5.2 22087296 ADARB2 chr10 132770124 132805416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 132780644 132999974 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TCERG1L chr10 132780644 132999976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCERG1L chr10 132780644 132999976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCERG1L chr10 132780646 132999976 Gain and loss Pancreatic cancer SNP array 17952125 TCERG1L chr10 132796130 132796230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 132797722 132803701 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 132797722 132803701 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 132798329 132805045 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 132798329 132805045 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 132798715 132803136 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 132799049 132802769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 132799078 132802834 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr10 132799078 132802834 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 132799241 132802636 Loss or gain Normal 244K array 17666407 NOT_FOUND chr10 132911686 132958700 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TCERG1L chr10 132932385 132932424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCERG1L chr10 132935636 132996023 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TCERG1L chr10 132959577 132975170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCERG1L chr10 13298015 13298326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 13299256 13300743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 13299275 13299381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 13299275 13299381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 133016837 133016925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCERG1L chr10 133031441 133031541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCERG1L chr10 133032471 133032806 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TCERG1L chr10 13303775 13316337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 13303775 13316337 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 13303775 13316337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 133052035 133052088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TCERG1L chr10 133077083 133078555 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 TCERG1L chr10 133160623 133160723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133184439 133184533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133185981 133315682 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 13325759 13325829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHYH chr10 133284631 133284663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133299069 133299399 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 133321829 133324180 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 133384817 133415524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 133422766 133422824 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 133426828 134361413 Gain Autism Exome sequencing and CGH 22495309 BNIP3,C10orf91,DPYSL4,FLJ46300,INPP5A,JAKMIP3,LRRC27,PPP2R2D,PWWP2B,STK32C chr10 13344307 13497936 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 BEND7,SEPHS1 chr10 133454724 133472193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 133454724 133472525 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 13346600 13359190 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 133474163 133474263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133488690 133488759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133497122 133508693 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 133497122 133509702 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 133505001 133507500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 133507501 133758000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ46300,PPP2R2D chr10 133538594 133538675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133597945 133619741 Gain and loss Pancreatic cancer SNP array 17952125 FLJ46300 chr10 133597950 133620041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ46300 chr10 133597950 133620041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ46300 chr10 13359806 13382107 Gain and loss Pancreatic cancer SNP array 17952125 SEPHS1 chr10 13359806 13384418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPHS1 chr10 13359806 13384418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPHS1 chr10 133602620 133603137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 133604797 135311386 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADAM8,BNIP3,C10orf91,CALY,DPYSL4,ECHS1,FLJ46300,FUOM,GPR123,INPP5A,JAKMIP3,KNDC1,LOC399829,LOC619207,LRRC27,MIR202,MIR3944,MTG1,NKX6-2,PAOX,PPP2R2D,PRAP1,PWWP2B,SPRN,STK32C,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 133616021 133616989 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 FLJ46300 chr10 133631859 133645417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 133632018 133645300 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 133670789 133704659 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 133711141 133711193 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 133713922 134818916 LOH Normal High-resolution SNP genotyping 21211785 BNIP3,C10orf91,DPYSL4,INPP5A,JAKMIP3,LOC399829,LRRC27,NKX6-2,PPP2R2D,PWWP2B,STK32C,TTC40 chr10 133716279 133869047 Gain Stenocardia MACArray Karyo 49K BAC-chips 21860640 BNIP3,PPP2R2D chr10 133716279 133869047 Gain Vasospasm MACArray Karyo 49K BAC-chips 21860640 BNIP3,PPP2R2D chr10 133724368 133752336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP2R2D chr10 133747025 133747110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133758001 133803500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BNIP3,PPP2R2D chr10 133768303 133800783 Gain and loss Pancreatic cancer SNP array 17952125 BNIP3,PPP2R2D chr10 133768303 133848302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BNIP3,PPP2R2D chr10 133768303 133848302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BNIP3,PPP2R2D chr10 133769276 133769376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP2R2D chr10 133774108 133774208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133778684 133778753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 133783634 135066163 Gain Urothelial carcinoma array CGH validated by FISH 21177765 BNIP3,C10orf91,DPYSL4,GPR123,INPP5A,JAKMIP3,KNDC1,LOC399829,LRRC27,MIR202,NKX6-2,PWWP2B,STK32C,TTC40,UTF1,VENTX chr10 133787814 133787953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BNIP3 chr10 133803501 133884500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 133804054 133860675 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 133804064 133804141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 133805422 133848302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 133805882 133806479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 133818458 133818511 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 133825332 133825633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 133827559 133847021 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr10 133850394 133869256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 133850394 133869256 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 133850394 133869256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 133852261 133910912 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr10 133870238 133870317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133870985 133996053 Gain or loss Breast cancer - 20668451 JAKMIP3 chr10 133870985 133996053 Gain or loss Cancer - 20668451 JAKMIP3 chr10 133870985 133996053 Gain or loss Lung cancer - 20668451 JAKMIP3 chr10 133870985 133996053 Gain or loss Ovarian cancer - 20668451 JAKMIP3 chr10 133870985 133996053 Gain or loss Pancreas cancer - 20668451 JAKMIP3 chr10 133870985 133996053 Gain or loss Prostate cancer - 20668451 JAKMIP3 chr10 133870986 133971467 Gain and loss Pancreatic cancer SNP array 17952125 JAKMIP3 chr10 133870986 133995341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JAKMIP3 chr10 133870986 133995341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAKMIP3 chr10 133879108 133989174 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 JAKMIP3 chr10 133884501 133888500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 133888501 133936000 Copy number Normal ReadDepth: A Parallel R Package 21305028 JAKMIP3 chr10 13391713 13391813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 133917903 133918217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 133925591 133925656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JAKMIP3 chr10 133929929 133930008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JAKMIP3 chr10 133929972 135293404 Duplication Myelodysplastic syndrome - 21251322 ADAM8,C10orf91,CALY,DPYSL4,ECHS1,FUOM,GPR123,INPP5A,JAKMIP3,KNDC1,LOC399829,LOC619207,LRRC27,MIR202,MIR3944,MTG1,NKX6-2,PAOX,PRAP1,PWWP2B,SPRN,STK32C,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 133936001 134050000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPYSL4,JAKMIP3,STK32C chr10 133962496 133962701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 JAKMIP3 chr10 133975761 133975830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JAKMIP3 chr10 13399430 13430286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 13399430 13430286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 133995648 134038950 Gain and loss Pancreatic cancer SNP array 17952125 DPYSL4,JAKMIP3,STK32C chr10 133995648 134109058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPYSL4,JAKMIP3,STK32C chr10 133995648 134109058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYSL4,JAKMIP3,STK32C chr10 13400089 13430286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 134013678 134035695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPYSL4,STK32C chr10 134014429 134028763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPYSL4,STK32C chr10 134014629 134038700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPYSL4,STK32C chr10 134019846 134020061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 134026181 134026736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STK32C chr10 134026341 134026655 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STK32C chr10 134028010 134028278 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 STK32C chr10 134050001 134131500 Copy number Normal ReadDepth: A Parallel R Package 21305028 STK32C chr10 134050264 134106136 Gain and loss Pancreatic cancer SNP array 17952125 STK32C chr10 134060662 134081357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK32C chr10 134060662 134081357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK32C chr10 134060694 134081324 Gain and loss Pancreatic cancer SNP array 17952125 STK32C chr10 134067487 134067538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STK32C chr10 134068979 134069049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK32C chr10 134076220 134277057 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C10orf91,LRRC27,PWWP2B,STK32C chr10 134078655 134079315 Gain and loss Pancreatic cancer SNP array 17952125 STK32C chr10 134078655 134079315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK32C chr10 134086101 134086186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK32C chr10 134086229 134634981 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 C10orf91,INPP5A,LRRC27,NKX6-2,PWWP2B,STK32C,TTC40 chr10 134087172 134094057 Gain and loss Pancreatic cancer SNP array 17952125 STK32C chr10 134087172 134094155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK32C chr10 134108683 134112880 Gain and loss Pancreatic cancer SNP array 17952125 STK32C chr10 134108683 134112902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK32C chr10 134108683 134112902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK32C chr10 134131501 134181000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC27 chr10 134135831 135278107 LOH Normal High-resolution SNP genotyping 21211785 ADAM8,C10orf91,CALY,ECHS1,FUOM,GPR123,INPP5A,KNDC1,LOC399829,LOC619207,LRRC27,MIR202,MIR3944,MTG1,NKX6-2,PAOX,PRAP1,PWWP2B,SPRN,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134167701 134171400 Deletion Glioma mate-paired sequence 20126413 LRRC27 chr10 134181001 134186500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC27 chr10 134184678 134185853 Gain and loss Pancreatic cancer SNP array 17952125 LRRC27 chr10 134186501 134381000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf91,INPP5A,LRRC27,PWWP2B chr10 134200442 134322359 Gain and loss Pancreatic cancer SNP array 17952125 C10orf91,PWWP2B chr10 134201298 134446968 Gain and loss Pancreatic cancer SNP array 17952125 C10orf91,INPP5A,PWWP2B chr10 134201343 134446974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf91,INPP5A,PWWP2B chr10 134201343 134446974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf91,INPP5A,PWWP2B chr10 134245760 134245835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 134276691 134309494 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 134289468 134313585 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 134334829 134334891 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 134342876 134409408 Gain and loss Pancreatic cancer SNP array 17952125 INPP5A chr10 134346896 134346996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 134351997 134395400 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 INPP5A chr10 134381001 134385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 INPP5A chr10 134385001 134484000 Copy number Normal ReadDepth: A Parallel R Package 21305028 INPP5A chr10 134385129 134385223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5A chr10 134405218 134405272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP5A chr10 134410586 134892955 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 INPP5A,LOC399829,NKX6-2,TTC40 chr10 134440000 135080000 Gain Breast cancer aCGH 21509527 ADAM8,GPR123,INPP5A,KNDC1,LOC399829,MIR202,NKX6-2,TTC40,UTF1,VENTX chr10 134442073 134556094 Loss Stenocardia MACArray Karyo 101K BAC-chips 21860640 INPP5A chr10 134442073 134556094 Loss Vasospasm MACArray Karyo 101K BAC-chips 21860640 INPP5A chr10 134448310 134449527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5A chr10 134448310 134449527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5A chr10 134448410 134449442 Gain and loss Pancreatic cancer SNP array 17952125 INPP5A chr10 134449360 134449933 Gain Normal 244K array 17666407 INPP5A chr10 134453723 134453823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5A chr10 134461703 134461889 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 INPP5A chr10 134471887 134521226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5A chr10 134471887 134521226 Gain and loss Pancreatic cancer SNP array 17952125 INPP5A chr10 134471887 134521226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5A chr10 134476254 134478377 Loss Autism 1M Ailent CGH whole-genome array 21865298 INPP5A chr10 134484001 134488500 Copy number Normal ReadDepth: A Parallel R Package 21305028 INPP5A chr10 134488501 134861000 Copy number Normal ReadDepth: A Parallel R Package 21305028 INPP5A,LOC399829,NKX6-2,TTC40 chr10 134495130 134918115 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 GPR123,INPP5A,LOC399829,NKX6-2,TTC40 chr10 134515692 134683302 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 INPP5A,NKX6-2,TTC40 chr10 134529535 134543041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5A chr10 134542917 134576304 Gain and loss Pancreatic cancer SNP array 17952125 INPP5A chr10 134559587 134559744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP5A chr10 134567764 135141148 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAM8,CALY,GPR123,INPP5A,KNDC1,LOC399829,MIR202,NKX6-2,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134577523 134578215 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 INPP5A chr10 134582822 134588240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5A chr10 134591133 134689210 Gain Autism qPCR, Illumina1M 20531469 INPP5A,NKX6-2,TTC40 chr10 134592681 134606054 Gain and loss Pancreatic cancer SNP array 17952125 INPP5A,NKX6-2 chr10 134592705 134606079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5A,NKX6-2 chr10 134592705 134606079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5A,NKX6-2 chr10 134595562 134595662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5A chr10 134596700 134596800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5A chr10 134604089 134693987 Gain Stenocardia MACArray Karyo 50K BAC-chips 21860640 TTC40 chr10 134604089 134693987 Gain Vasospasm MACArray Karyo 50K BAC-chips 21860640 TTC40 chr10 134629028 134639848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC40 chr10 134629028 134639848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC40 chr10 134643308 134669561 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC40 chr10 134645227 134674469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC40 chr10 134654530 134754530 Gain aortic dissecting aneurysms Array-CGH 22263138 TTC40 chr10 134654530 134754530 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 TTC40 chr10 134654530 134754530 Gain Stenocardia MACArray Karyo 51K BAC-chips 21860640 TTC40 chr10 134654530 134754530 Gain Vasospasm MACArray Karyo 51K BAC-chips 21860640 TTC40 chr10 134661598 134767287 Duplication Normal Affymetrix 6.0 microarrays 20967226 TTC40 chr10 134662842 134663149 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC40 chr10 134681027 134681664 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 TTC40 chr10 134696226 134696318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC40 chr10 134715161 134715214 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 TTC40 chr10 134724396 135374737 LOH Normal High-resolution SNP genotyping 21211785 ADAM8,CALY,CYP2E1,ECHS1,FUOM,GPR123,KNDC1,LOC399829,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SYCE1,TTC40,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134729249 134729324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC40 chr10 134729756 134729856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC40 chr10 134733303 135014284 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR123,KNDC1,LOC399829,TTC40 chr10 134733303 135111183 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADAM8,GPR123,KNDC1,LOC399829,MIR202,TTC40,TUBGCP2,UTF1,VENTX chr10 134734423 134795169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC399829,TTC40 chr10 134734423 134795169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC399829,TTC40 chr10 134737620 134737715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC40 chr10 134749463 134750127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC40 chr10 134755203 134904547 Loss aortic dissecting aneurysms Array-CGH 22263138 GPR123,LOC399829,TTC40 chr10 134755203 134904547 Loss Stenocardia MACArray Karyo 100K BAC-chips 21860640 GPR123,LOC399829,TTC40 chr10 134755203 134904547 Loss Vasospasm MACArray Karyo 100K BAC-chips 21860640 GPR123,LOC399829,TTC40 chr10 134758097 135374737 LOH Normal High-resolution SNP genotyping 21211785 ADAM8,CALY,CYP2E1,ECHS1,FUOM,GPR123,KNDC1,LOC399829,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SYCE1,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134773314 134831896 Gain and loss Pancreatic cancer SNP array 17952125 LOC399829 chr10 134783927 135014284 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR123,KNDC1,LOC399829 chr10 134783927 135111183 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADAM8,GPR123,KNDC1,LOC399829,MIR202,TUBGCP2,UTF1,VENTX chr10 134786645 135374737 LOH Normal High-resolution SNP genotyping 21211785 ADAM8,CALY,CYP2E1,ECHS1,FUOM,GPR123,KNDC1,LOC399829,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SYCE1,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134803616 134803853 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 134806193 135374737 LOH Normal High-resolution SNP genotyping 21211785 ADAM8,CALY,CYP2E1,ECHS1,FUOM,GPR123,KNDC1,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SYCE1,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134808106 134808798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 134823960 134889906 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 134823961 134889906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 134823961 134889906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 134827358 134827519 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 134827358 134827573 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 134832339 135374737 LOH Normal High-resolution SNP genotyping 21211785 ADAM8,CALY,CYP2E1,ECHS1,FUOM,GPR123,KNDC1,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SYCE1,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134836379 134873224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 134861001 134887500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 134862852 134928797 Gain and loss Pancreatic cancer SNP array 17952125 GPR123 chr10 134863768 135374737 LOH Normal High-resolution SNP genotyping 21211785 ADAM8,CALY,CYP2E1,ECHS1,FUOM,GPR123,KNDC1,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SYCE1,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134866676 134866783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 134885326 134885492 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 134887501 135145000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAM8,CALY,GPR123,KNDC1,MIR202,TUBGCP2,UTF1,VENTX,ZNF511 chr10 134889653 134889753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 134893768 134895052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 134893768 134895052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 134901398 134905421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR123 chr10 134901398 134905421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR123 chr10 134911006 134911115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR123 chr10 134925912 134940362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR123 chr10 134925912 134940362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR123 chr10 134932659 134933942 Gain and loss Pancreatic cancer SNP array 17952125 GPR123 chr10 134940289 134944314 Gain and loss Pancreatic cancer SNP array 17952125 GPR123 chr10 134943125 134972634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR123 chr10 134943125 134972634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR123 chr10 134947600 135111183 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADAM8,KNDC1,MIR202,TUBGCP2,UTF1,VENTX chr10 134949916 134949987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 134953001 134957500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 134954783 134955973 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 134954816 134981911 Deletion Normal - 21790672 KNDC1 chr10 134963077 135095757 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAM8,KNDC1,MIR202,TUBGCP2,UTF1,VENTX chr10 134963241 134965115 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 134965542 134979211 Gain and loss Pancreatic cancer SNP array 17952125 KNDC1 chr10 134972412 134976656 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KNDC1 chr10 134972413 134976656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 134972413 134976656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 134978923 134978981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KNDC1 chr10 134982019 135014722 Gain and loss Pancreatic cancer SNP array 17952125 KNDC1 chr10 134987901 134988239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 134988922 135000429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 134988922 135000429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 134991544 134991644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KNDC1 chr10 135008137 135008400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 135010901 135016177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 135010901 135016177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 135011286 135015547 Gain and loss Pancreatic cancer SNP array 17952125 KNDC1 chr10 135018654 135021519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 135018784 135021519 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KNDC1 chr10 135025979 135036898 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 KNDC1 chr10 135025980 135036898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 135025980 135036898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNDC1 chr10 135026792 135027130 Gain and loss Pancreatic cancer SNP array 17952125 KNDC1 chr10 135027814 135039292 Gain and loss Pancreatic cancer SNP array 17952125 KNDC1 chr10 135032839 135032989 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KNDC1 chr10 135042685 135055188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UTF1,VENTX chr10 135042685 135055188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UTF1,VENTX chr10 135044880 135093095 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAM8,MIR202,TUBGCP2,UTF1,VENTX chr10 135049792 135055068 Gain and loss Pancreatic cancer SNP array 17952125 VENTX chr10 135053434 135079846 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAM8,MIR202,VENTX chr10 135054178 135093095 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAM8,MIR202,TUBGCP2,VENTX chr10 135057545 135060410 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 135057611 135084164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM8,MIR202 chr10 135057611 135084164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM8,MIR202 chr10 135064871 135075789 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 135073302 135095235 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ADAM8,TUBGCP2 chr10 135081576 135094078 Gain and loss Pancreatic cancer SNP array 17952125 ADAM8,TUBGCP2 chr10 135081944 135082044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM8 chr10 135081984 135215135 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADAM8,CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,TUBGCP2,ZNF511 chr10 135084159 135088111 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ADAM8 chr10 135084161 135088111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM8 chr10 135084161 135088111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM8 chr10 135086269 135086369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM8 chr10 135087012 135250713 Gain Normal aCGH 21627829 ADAM8,CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135090212 135236564 Copy number loss Normal High-resolution SNP genotyping 21211785 ADAM8,CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135090894 135275499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CALY,ECHS1,FUOM,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135091477 135092421 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TUBGCP2 chr10 135092357 135374737 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CALY,CYP2E1,ECHS1,FUOM,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,SYCE1,TUBGCP2,ZNF511 chr10 135092863 135178652 Gain Normal Birdsuite, version 1.5.2 22087296 CALY,ECHS1,FUOM,PRAP1,TUBGCP2,ZNF511 chr10 135092863 135223425 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,TUBGCP2,ZNF511 chr10 135092863 135237230 Duplication Normal Affymetrix 6.0 microarrays 20967226 CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135092863 135237230 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135092863 135237857 Duplication Normal Affymetrix 6.0 microarrays 20967226 CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135092863 135237857 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135092863 135356694 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CALY,CYP2E1,ECHS1,FUOM,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135094707 135095390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TUBGCP2 chr10 135096526 135123704 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP2,ZNF511 chr10 135099870 135374737 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CALY,CYP2E1,ECHS1,FUOM,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,SYCE1,TUBGCP2,ZNF511 chr10 135102973 135223581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,TUBGCP2,ZNF511 chr10 135111207 135279389 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CALY,ECHS1,FUOM,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135117422 135131941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP2,ZNF511 chr10 135117422 135131941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP2,ZNF511 chr10 135117745 135279389 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CALY,ECHS1,FUOM,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135121772 135131941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP2,ZNF511 chr10 135121772 135131941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP2,ZNF511 chr10 135124893 135276714 Gain Normal 244K array 17666407 CALY,ECHS1,FUOM,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 chr10 135130780 135143703 Gain Normal Quantitative PCR 18989455 CALY chr10 135134088 135230489 Gain Autism qPCR 20531469 CALY,ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1 chr10 135137254 135178682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CALY,ECHS1,FUOM,PRAP1 chr10 135153473 135153573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 135156313 135233863 Gain and loss Pancreatic cancer SNP array 17952125 ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1 chr10 135158836 135264575 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ECHS1,FUOM,MIR3944,MTG1,PAOX,PRAP1,SPRN chr10 135165535 135311386 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ECHS1,FUOM,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN chr10 135176625 135238107 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ECHS1,MIR3944,MTG1,PAOX,SPRN chr10 135176625 135276748 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ECHS1,LOC619207,MIR3944,MTG1,PAOX,SPRN chr10 135178641 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,ECHS1,LOC619207,MIR3944,MTG1,PAOX,SPRN chr10 135178652 135178653 Gain Normal Birdsuite, version 1.5.2 22087296 ECHS1 chr10 135178653 135227268 Gain Normal Birdsuite, version 1.5.2 22087296 ECHS1,MIR3944,MTG1,PAOX chr10 135187293 135205700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAOX chr10 135189858 135365034 Gain Normal aCGH 21627829 CYP2E1,LOC619207,MTG1,PAOX,SPRN chr10 135190857 135224714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTG1,PAOX chr10 135190857 135224714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTG1,PAOX chr10 135192740 135205197 Amplification Melanoma MLPA assay 21693616 PAOX chr10 135195330 135356682 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CYP2E1,LOC619207,MTG1,PAOX,SPRN chr10 135195383 135356694 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CYP2E1,LOC619207,MTG1,PAOX,SPRN chr10 135199494 135356694 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CYP2E1,LOC619207,MTG1,PAOX,SPRN chr10 135200460 135327915 Gain Normal aCGH 21627829 LOC619207,MTG1,PAOX,SPRN chr10 135201127 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207,MTG1,PAOX,SPRN chr10 135201164 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207,MTG1,PAOX,SPRN chr10 135202601 135217498 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MTG1,PAOX chr10 135205054 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207,MTG1,PAOX,SPRN chr10 13520507 13610539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEND7 chr10 13520507 13610539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEND7 chr10 135205571 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207,MTG1,SPRN chr10 13520643 13584982 Gain and loss Pancreatic cancer SNP array 17952125 BEND7 chr10 135207392 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207,MTG1,SPRN chr10 135208654 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207,MTG1,SPRN chr10 135215135 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207,MTG1,SPRN chr10 135216092 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207,MTG1,SPRN chr10 135217395 135232866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTG1 chr10 135217395 135232866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTG1 chr10 13521898 13521998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BEND7 chr10 135219522 135227438 Indels Normal Affymetrix and Illumina arrays 20811451 MTG1 chr10 135230284 135230354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MTG1 chr10 135238616 135239525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135239832 135356682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2E1,LOC619207 chr10 135250508 135356694 Gain Normal Birdsuite, version 1.5.2 22087296 CYP2E1,LOC619207 chr10 135275539 135288450 Loss Normal Quantitative PCR 18989455 LOC619207 chr10 135279101 135374737 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP2E1,LOC619207,SYCE1 chr10 135288593 135290289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135288593 135290289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135292251 135349500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP2E1 chr10 135300902 135301386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135305209 135306395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135311821 135311881 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 135320729 135324129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135320729 135324129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135323074 135323169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135327926 135328600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135330357 135335265 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr10 135330645 135331154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135333667 135338574 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 NOT_FOUND chr10 135333667 135338574 Indels Malaria PCR,Delta Delta Ct 21533027 NOT_FOUND chr10 135333955 135334464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135337264 135337773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135340563 135341072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2E1 chr10 135343873 135344382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2E1 chr10 135347172 135347681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2E1 chr10 135349501 135352000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP2E1 chr10 135352001 135374737 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP2E1,SYCE1 chr10 135355552 135355671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 135355625 135355907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 135365558 135366023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 13540547 13540647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BEND7 chr10 135438602 135374737 Deletion Prostate cancer aCGH 22341455 chr10 13593212 13593319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 13593213 13593318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 13593214 13593319 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 13606570 13606670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 13625531 13625586 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 13668945 13712873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD4A,PRPF18 chr10 13668945 13712873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4A,PRPF18 chr10 13669021 13712728 Gain and loss Pancreatic cancer SNP array 17952125 FRMD4A,PRPF18 chr10 13673466 13674329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 13675882 13675982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 13725711 14412872 Deletion Intellectual disability 100k SNP Array 21811512 FRMD4A chr10 13725712 14412889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD4A chr10 13725712 14412889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4A chr10 13725718 14412143 Gain and loss Pancreatic cancer SNP array 17952125 FRMD4A chr10 13729283 13729352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4A chr10 13786984 13787078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4A chr10 1 3800000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC100507034,LOC282980,LOC399708,MIR5699,PFKP,PITRM1,TUBB8,WDR37,ZMYND11 chr10 1 3800000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC100507034,LOC282980,LOC399708,MIR5699,PFKP,PITRM1,TUBB8,WDR37,ZMYND11 chr10 138000 9738000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,SFMBT2,TAF3,TAKR,TUBAL3,UCN3,WDR37,ZMYND11 chr10 13809802 13809891 Gain and loss Pancreatic cancer SNP array 17952125 FRMD4A chr10 13809802 13809922 Gain and loss Pancreatic cancer SNP array 17952125 FRMD4A chr10 13809802 13809922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4A chr10 13817072 13817155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4A chr10 138206 135293404 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 138235 42150788 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 13832264 13832364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4A chr10 1384971 1385071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 13858919 13859380 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FRMD4A chr10 13884825 13884913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4A chr10 13902900 13917075 Gain Normal 244K array 17666407 FRMD4A chr10 13952800 13953184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4A chr10 139831101 135374737 Deletion Glioma mate-paired sequence 20126413 chr10 13993864 14021704 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRMD4A chr10 1 40200000 Copy number Endometrioid adenocarcinoma CGH 16974079 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Gain Acute lymphoblastic leukemia array CGH 17690704 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Gain Glioblastoma multiforme aCGH 21080181 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Gain Glioblastoma multiforme conventional CGH 21080181 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Gain or loss Endometrial cancer CGH 22040021 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Loss Breast cancer aCGH 21264507 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Loss Esophageal squamous carcinoma CGH 21637470 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Loss Glioblastoma multiforme aCGH 21080181 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Loss Glioblastoma multiforme conventional CGH 21080181 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1 40300000 Loss Phyllodes tumor CGH 17334353 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 1410729 1410818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 1415652 1415751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 14209929 14210105 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 FRMD4A chr10 142328 168978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 14265283 14310252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRMD4A chr10 14281768 14282434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FRMD4A chr10 14311402 14315255 Loss Normal 244K array 17666407 FRMD4A chr10 14359800 14359900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4A chr10 14363760 14363860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4A chr10 14396495 14396700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14396698 14396895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14411766 14411851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14443286 14443386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14453188 14480652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1265 chr10 1445543 1458978 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADARB2 chr10 14484618 14484804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14484705 14484805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14484959 14485059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14518581 14518666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 14519892 14638939 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 FAM107B chr10 14537581 14537760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14559825 14559899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14600562 14856902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM107B chr10 14600562 14856902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM107B chr10 14600564 14856902 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM107B chr10 14600565 14856902 Gain and loss Pancreatic cancer SNP array 17952125 FAM107B chr10 14603497 14637130 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM107B chr10 14645760 14645805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM107B chr10 1468725 1517849 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADARB2 chr10 1470501 1472500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADARB2 chr10 14709179 14709246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM107B chr10 14723218 14724797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM107B chr10 1472501 1743500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADARB2,ADARB2-AS1 chr10 14740231 14775084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM107B chr10 14745401 14745490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM107B chr10 14745402 14745495 Gain and loss Pancreatic cancer SNP array 17952125 FAM107B chr10 14745410 14745499 Gain and loss Pancreatic cancer SNP array 17952125 FAM107B chr10 14750439 14750536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM107B chr10 14805176 14806060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM107B chr10 148203 14362519 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,BEND7,C10orf108,C10orf47,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CELF2,DHTKD1,DIP2C,ECHDC3,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC282980,LOC283070,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MCM10,MIR3155A,MIR3155B,MIR4480,MIR5699,NET1,NUDT5,OPTN,PFKFB3,PFKP,PHYH,PITRM1,PRKCQ,PRPF18,RBM17,SEC61A2,SEPHS1,SFMBT2,SFTA1P,TAF3,TAKR,TUBAL3,UCMA,UCN3,UPF2,USP6NL,WDR37,ZMYND11 chr10 14829542 14829642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 14860180 15860180 Deletion or amplification Glioblastoma multiforme - 21525872 ACBD7,C10orf111,CDNF,DCLRE1C,FAM171A1,FAM188A,HSPA14,ITGA8,LOC100192204,MEIG1,NMT2,OLAH,RPP38,SUV39H2 chr10 1486934 1487019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 14885510 14919653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSPA14 chr10 14889323 14889423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPA14 chr10 148946 135311386 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SPRN,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 148946 36714060 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABI1,ACBD5,ACBD7,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF438 chr10 148946 5692243 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ASB13,C10orf108,CALML3,CALML5,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,MIR5699,NET1,PFKP,PITRM1,TAKR,TUBAL3,UCN3,WDR37,ZMYND11 chr10 14901255 14920580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPA14 chr10 14901255 14920580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPA14 chr10 14901256 14919989 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 HSPA14 chr10 14901985 14919951 Gain and loss Pancreatic cancer SNP array 17952125 HSPA14 chr10 1490701 1494400 Deletion Glioma mate-paired sequence 20126413 ADARB2 chr10 14920231 14953744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1C,SUV39H2 chr10 14920231 14953744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1C,SUV39H2 chr10 14920324 14953744 Gain and loss Pancreatic cancer SNP array 17952125 DCLRE1C,SUV39H2 chr10 1492585 1493094 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ADARB2 chr10 14960868 14986308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1C chr10 14960868 14986308 Gain and loss Pancreatic cancer SNP array 17952125 DCLRE1C chr10 14960868 14986308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1C chr10 14976355 14976671 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DCLRE1C chr10 14980236 15036061 Gain and loss Pancreatic cancer SNP array 17952125 DCLRE1C,MEIG1 chr10 14981169 15036100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1C,MEIG1 chr10 14981169 15036100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLRE1C,MEIG1 chr10 15041444 15054856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 15041444 15054856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 15048474 15054646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 15050927 15100282 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OLAH chr10 15068879 15071453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 150794030 150847943 Copy number Lung cancer - 20668451 NOT_FOUND chr10 150794030 150847943 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 150794030 150847943 Gain or loss Cancer - 20668451 NOT_FOUND chr10 150794030 150847943 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 150794030 150847943 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 150794030 150847943 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 150794030 150847943 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 150794030 150847943 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 15081108 15082083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 15081693 15081959 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 15089877 15090800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLAH chr10 15089910 15090800 Gain and loss Pancreatic cancer SNP array 17952125 OLAH chr10 15097375 15103868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLAH chr10 15113999 16727250 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACBD7,C10orf111,C1QL3,FAM171A1,FAM188A,ITGA8,LOC100192204,NMT2,OLAH,PTER,RPP38,RSU1 chr10 15125932 15155857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACBD7,C10orf111,NMT2,RPP38 chr10 15125932 15155857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD7,C10orf111,NMT2,RPP38 chr10 15125951 15155664 Gain and loss Pancreatic cancer SNP array 17952125 ACBD7,C10orf111,NMT2,RPP38 chr10 151476 151585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 15157481 15170781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMT2 chr10 15157481 15170781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMT2 chr10 15159861 15170780 Gain and loss Pancreatic cancer SNP array 17952125 NMT2 chr10 15172919 15250701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100192204,NMT2 chr10 15172919 15250701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100192204,NMT2 chr10 15175268 15175616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMT2 chr10 15177389 15179324 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NMT2 chr10 15177391 15179324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMT2 chr10 15177391 15179324 Gain and loss Pancreatic cancer SNP array 17952125 NMT2 chr10 15177391 15179324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMT2 chr10 15179050 15179414 Gain Autism 1M Ailent CGH whole-genome array 21865298 NMT2 chr10 15179185 15188135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMT2 chr10 15179185 15188135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMT2 chr10 15179390 15186259 Gain and loss Pancreatic cancer SNP array 17952125 NMT2 chr10 15189909 15250663 Gain and loss Pancreatic cancer SNP array 17952125 LOC100192204,NMT2 chr10 15191731 15222832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100192204,NMT2 chr10 15197092 15230981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100192204,NMT2 chr10 15236804 15237337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 15253041 15253283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 15253068 15253162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 15267336 15295189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM171A1 chr10 1527792 1527898 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADARB2 chr10 1527795 1527901 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ADARB2 chr10 15293649 15453064 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM171A1 chr10 15293652 15453064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM171A1 chr10 15293652 15453064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM171A1 chr10 15294920 15453064 Gain and loss Pancreatic cancer SNP array 17952125 FAM171A1 chr10 153660161 153686957 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 15377417 15377517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM171A1 chr10 1541867 1541940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 1542753 1542903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 1543740 1545458 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ADARB2 chr10 15458607 15458682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 1547222 1547303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB2 chr10 15481371 15481442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 15511085 15511400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 15522819 15523819 Loss Osteosarcoma References 21215367 NOT_FOUND chr10 15572471 15572780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITGA8 chr10 15581536 15582536 Loss Osteosarcoma References 21215367 ITGA8 chr10 1558940 1567868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADARB2 chr10 1558940 1567868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADARB2 chr10 15599094 15801776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGA8 chr10 15599094 15801776 Gain and loss Pancreatic cancer SNP array 17952125 ITGA8 chr10 15599094 15801776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGA8 chr10 15641430 15641530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA8 chr10 15648215 15648298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA8 chr10 15722545 20215815 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL5B,C1QL3,CACNB2,CUBN,FAM188A,ITGA8,LOC100128098,LOC100129213,MIR511-1,MIR511-2,MRC1,NSUN6,PLXDC2,PTER,PTPLA,RSU1,SLC39A12,ST8SIA6,STAM,TMEM236,TRDMT1,VIM chr10 15734337 15734455 Gain Normal 244K array 17666407 ITGA8 chr10 15761321 15761405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA8 chr10 15860175 15942525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM188A chr10 15860175 15942525 Gain and loss Pancreatic cancer SNP array 17952125 FAM188A chr10 15860175 15942525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM188A chr10 158693 90129215 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 A1CF,ABI1,ACBD5,ACBD7,ACTR3BP5,ADAMTS14,ADARB2,ADARB2-AS1,ADK,ADO,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALOX5,ANAPC16,ANK3,ANKRD16,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARID5B,ARL5B,ARMC3,ARMC4,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATOH7,ATP5C1,BAMBI,BEND7,BICC1,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf128,C10orf25,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf67,C10orf68,C10orf71,C10orf99,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CAMK2G,CCAR1,CCDC3,CCDC6,CCDC7,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CFL1P1,CHAT,CHCHD1,CHST3,CISD1,COL13A1,COMMD3,COMMD3-BMI1,COMTD1,CREM,CSGALNACT2,CSTF2T,CTNNA3,CTSL1P2,CUBN,CUL2,CXCL12,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DIP2C,DKK1,DLG5,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DRGX,DUPD1,DUSP13,DYDC1,DYDC2,EBLN1,ECD,ECHDC3,EGR2,EIF4EBP2,EIF5AL1,ENKUR,EPC1,ERCC6,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM170B,FAM171A1,FAM188A,FAM190B,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FBXO18,FLJ31813,FLJ45983,FRMD4A,FRMPD2,FRMPD2P1,FUT11,FXYD4,FZD8,GAD2,GATA3,GDF10,GDF2,GDI2,GHITM,GJD4,GLUD1,GLUD1P3,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,GRID1,GRID1-AS1,GTPBP4,H2AFY2,HERC4,HK1,HKDC1,HNRNPA3P1,HNRNPF,HNRNPH3,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIF5B,KIN,KLF6,KLLN,LARP4B,LDB3,LINC00200,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100192204,LOC100216001,LOC100288974,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC283033,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC399753,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC642361,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728643,LOC728978,LOC731789,LOC84856,LOC84989,LRIT1,LRIT2,LRRC18,LRRC20,LRRC37A6P,LRRTM3,LYZL1,LYZL2,M1,MAP3K8,MAPK8,MARCH8,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCU,MEIG1,MICU1,MINPP1,MIR1256,MIR1265,MIR1296,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR346,MIR3924,MIR4294,MIR4480,MIR4675,MIR4676,MIR4678,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5699,MIR603,MIR604,MIR605,MIR938,MKX,MLLT10,MMRN2,MPP7,MRC1,MRPS16,MSMB,MSRB2,MSS51,MTPAP,MTRNR2L5,MTRNR2L7,MYO3A,MYOZ1,MYPN,NCOA4,NDST2,NEBL,NET1,NEUROG3,NMT2,NODAL,NPFFR1,NRBF2,NRG3,NRP1,NSUN6,NUDT13,NUDT5,OGDHL,OIT3,OLAH,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PAPSS2,PARD3,PARG,PBLD,PCBD1,PCDH15,PDSS1,PFKFB3,PFKP,PGBD3,PHYH,PHYHIPL,PIP4K2A,PITRM1,PLA2G12B,PLAC9,PLAU,PLXDC2,POLR3A,PPA1,PPIF,PPP3CB,PPYR1,PRF1,PRKCQ,PRKG1,PRPF18,PRTFDC1,PSAP,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBM17,RBP3,REEP3,RET,RGR,RHOBTB1,RNLS,RPP38,RPS24,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SFTPA1,SFTPA2,SFTPD,SGMS1,SGPL1,SH2D4B,SIRT1,SKIDA1,SLC16A9,SLC18A3,SLC25A16,SLC29A3,SLC39A12,SNCG,SNORD98,SPAG6,SPOCK2,SRGN,ST8SIA6,STAM,STOX1,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACR2,TAF3,TAKR,TBATA,TET1,TFAM,THNSL1,TIMM23,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TRDMT1,TSPAN14,TSPAN15,TTC18,TUBAL3,TYSND1,UBE2D1,UCMA,UCN3,UNC5B,UPF2,USP54,USP6NL,VCL,VDAC2,VIM,VPS26A,VSTM4,WAC,WAPAL,WDFY4,WDR37,YME1L1,ZCCHC24,ZEB1,ZEB1-AS1,ZFAND4,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZWINT chr10 15913971 15914071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 15917593 17007248 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 C1QL3,CUBN,PTER,RSU1 chr10 1592668 1592781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADARB2,ADARB2-AS1 chr10 15959139 15974926 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 15968363 15968468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 15968363 15968468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 15997717 16003768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 16000725 16000967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 16065153 16065481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 16080229 16201223 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 16084814 17528387 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 C1QL3,CUBN,LOC100128098,PTER,RSU1,ST8SIA6,TRDMT1,VIM chr10 16153421 16153814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 16162774 16162874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 1623398 1656112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADARB2 chr10 16289826 16289931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 16289826 16289932 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 16289826 16289932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 1 6299700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 16314611 16314656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 16396951 16397255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 16480660 16480764 Gain and loss Pancreatic cancer SNP array 17952125 PTER chr10 16480660 16480764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTER chr10 16518970 16595742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QL3,PTER chr10 16518970 16595742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QL3,PTER chr10 16518977 16595742 Gain and loss Pancreatic cancer SNP array 17952125 C1QL3,PTER chr10 16534334 16534789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTER chr10 16558008 16558066 Gain and loss Pancreatic cancer SNP array 17952125 C1QL3 chr10 16558008 16558164 Gain and loss Pancreatic cancer SNP array 17952125 C1QL3 chr10 16558008 16558169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QL3 chr10 16595748 16604010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 16595748 16604010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 16596533 16603070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 1 6600000 Gain Sudden cardiac death CGH 19188705 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 16603148 16658292 Allelic imbalance Normal High-resolution SNP genotyping 21211785 RSU1 chr10 16603148 16658292 Copy number gain Normal High-resolution SNP genotyping 21211785 RSU1 chr10 16607108 16658292 Allelic imbalance Normal High-resolution SNP genotyping 21211785 RSU1 chr10 16607108 16658292 Copy number gain Normal High-resolution SNP genotyping 21211785 RSU1 chr10 16620706 16620806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 16672625 16899459 Gain and loss Pancreatic cancer SNP array 17952125 CUBN,RSU1 chr10 16672625 16899468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUBN,RSU1 chr10 16672625 16899468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUBN,RSU1 chr10 1 6700000 Copy number Digeorge syndrome MLPA 22283845 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 1 6700000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 1 6700000 Deletion Colorectal cancer - 20709793 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 1 6700000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 1 6700000 Gain Hepatocellular carcinoma Array CGH 16750200 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 1 6700000 Gain Wilms tumour Array CGH 19047088 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 1 6700000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 1 6700000 Loss Cancer array-based techniques 21183584 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 1 6700000 Microdeletion Barakat syndrome aCGH 22470819 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 16727180 19586883 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL5B,CACNB2,CUBN,LOC100128098,LOC100129213,MIR511-1,MIR511-2,MRC1,NSUN6,PTPLA,RSU1,SLC39A12,ST8SIA6,STAM,TMEM236,TRDMT1,VIM chr10 16727875 16728072 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RSU1 chr10 16727875 16728145 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RSU1 chr10 1674401 1674467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADARB2 chr10 16759439 16759539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSU1 chr10 16850614 16850714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSU1 chr10 16905500 17520442 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 CUBN,LOC100128098,ST8SIA6,TRDMT1,VIM chr10 16905971 17211822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUBN,TRDMT1 chr10 16905971 17211822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUBN,TRDMT1 chr10 16906544 17211796 Gain and loss Pancreatic cancer SNP array 17952125 CUBN,TRDMT1 chr10 17031900 17031981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUBN chr10 17035300 17080853 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CUBN chr10 17049220 17049290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUBN chr10 170643 289576 Gain and loss Pancreatic cancer SNP array 17952125 ZMYND11 chr10 170643 290577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYND11 chr10 170643 290577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYND11 chr10 17101565 17101665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUBN chr10 17138815 17171209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CUBN chr10 1 7185791 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,C10orf108,CALML3,CALML5,DIP2C,FAM208B,FBXO18,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,TAKR,TUBAL3,TUBB8,UCN3,WDR37,ZMYND11 chr10 17196796 17196896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRDMT1 chr10 17215489 17920464 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC100128098,MIR511-1,MIR511-2,MRC1,PTPLA,ST8SIA6,STAM,TMEM236,TRDMT1,VIM chr10 17224851 17283687 Gain and loss Pancreatic cancer SNP array 17952125 TRDMT1,VIM chr10 17224988 17283687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRDMT1,VIM chr10 17224988 17283687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRDMT1,VIM chr10 17242639 17242739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRDMT1 chr10 17300000 18600000 Copy number Colorectal cancer - 19287155 CACNB2,LOC100128098,LOC100129213,MIR511-1,MIR511-2,MRC1,PTPLA,SLC39A12,ST8SIA6,STAM,TMEM236 chr10 17300000 19900000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 ARL5B,CACNB2,LOC100128098,LOC100129213,MIR511-1,MIR511-2,MRC1,NSUN6,PTPLA,SLC39A12,ST8SIA6,STAM,TMEM236 chr10 17300000 19900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL5B,CACNB2,LOC100128098,LOC100129213,MIR511-1,MIR511-2,MRC1,NSUN6,PTPLA,SLC39A12,ST8SIA6,STAM,TMEM236 chr10 17300000 22600000 Gain and amplification Multiple myeloma Array CGH 16616336 ARL5B,C10orf113,C10orf114,CACNB2,DNAJC1,EBLN1,LOC100128098,LOC100128511,LOC100129213,LOC100130992,MIR1915,MIR4675,MIR511-1,MIR511-2,MLLT10,MRC1,NEBL,NSUN6,PLXDC2,PTPLA,SKIDA1,SLC39A12,ST8SIA6,STAM,TMEM236 chr10 17300000 40300000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 ABI1,ACBD5,ACTR3BP5,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,BAMBI,BMI1,C10orf113,C10orf114,C10orf67,C10orf68,CACNB2,CCDC7,CCNY,COMMD3,COMMD3-BMI1,CREM,CUL2,DNAJC1,EBLN1,ENKUR,EPC1,FZD8,GAD2,GJD4,GPR158,GPR158-AS1,HSD17B7P2,ITGB1,KIAA1217,KIAA1462,KIF5B,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100419868,LOC100499489,LOC100505583,LOC100507605,LOC220906,LOC387647,LOC399744,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR1915,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NRP1,NSUN6,OTUD1,PARD3,PDSS1,PIP4K2A,PLXDC2,PRTFDC1,PTCHD3,PTF1A,PTPLA,RAB18,SEPT7L,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SVIL,THNSL1,TMEM236,WAC,YME1L1,ZEB1,ZEB1-AS1,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 17310475 17319598 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr10 17310476 17319598 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 17311250 17319591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 17311250 17319591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 17311303 17319598 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr10 17350716 17355499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 17359958 17402858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST8SIA6 chr10 17365325 17365357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST8SIA6 chr10 17400700 17536260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128098,ST8SIA6 chr10 17400700 17536260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128098,ST8SIA6 chr10 17402681 17536260 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 LOC100128098,ST8SIA6 chr10 17402846 17536260 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128098,ST8SIA6 chr10 17415375 17415407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST8SIA6 chr10 17466670 17466744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST8SIA6 chr10 1747007 1758768 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADARB2 chr10 17481107 17492636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST8SIA6 chr10 17485513 17485622 Gain and loss Pancreatic cancer SNP array 17952125 ST8SIA6 chr10 17485513 17485623 Gain and loss Pancreatic cancer SNP array 17952125 ST8SIA6 chr10 17495955 17496000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST8SIA6 chr10 17517193 17551314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 17564388 17564714 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 17564405 17564714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 17564465 17564714 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 17590425 17590502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 17659367 17660217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPLA chr10 1766485 3169967 Deletion Normal Arbitrated Peel-off 21527027 ADARB2,LOC282980,LOC399708,PFKP chr10 1766485 3169967 Deletion Normal GeneGISTIC 21527027 ADARB2,LOC282980,LOC399708,PFKP chr10 1766485 3169967 Deletion Normal Standard peel-off 21527027 ADARB2,LOC282980,LOC399708,PFKP chr10 17671963 17699379 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 STAM chr10 17671963 17699379 Insertion Centronuclear myopathy References 22138850 STAM chr10 17671963 17699379 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 STAM chr10 17671971 17699379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAM chr10 17671971 17699379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAM chr10 17672276 17699382 Gain and loss Pancreatic cancer SNP array 17952125 STAM chr10 17684915 17685132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 17718148 22325377 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARL5B,C10orf113,C10orf114,CACNB2,DNAJC1,LOC100128511,LOC100129213,MIR1915,MIR4675,MIR511-1,MIR511-2,MLLT10,MRC1,NEBL,NSUN6,PLXDC2,SKIDA1,SLC39A12,STAM,TMEM236 chr10 17726130 17797913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAM,TMEM236 chr10 17726130 17797913 Gain and loss Pancreatic cancer SNP array 17952125 STAM,TMEM236 chr10 17726130 17797913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAM,TMEM236 chr10 1 77700000 Gain Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 A1CF,ABI1,ACBD5,ACBD7,ACTR3BP5,ADAMTS14,ADARB2,ADARB2-AS1,ADK,ADO,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALOX5,ANAPC16,ANK3,ANKRD16,ANKRD26,ANKRD30A,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARID5B,ARL5B,ARMC3,ARMC4,ASAH2,ASAH2B,ASB13,ASCC1,ATOH7,ATP5C1,BAMBI,BEND7,BICC1,BMI1,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf128,C10orf25,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf67,C10orf68,C10orf71,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CAMK2G,CCAR1,CCDC3,CCDC6,CCDC7,CCNY,CDC123,CDH23,CDK1,CDNF,CELF2,CHAT,CHCHD1,CHST3,CISD1,COL13A1,COMMD3,COMMD3-BMI1,COMTD1,CREM,CSGALNACT2,CSTF2T,CTNNA3,CTSL1P2,CUBN,CUL2,CXCL12,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DIP2C,DKK1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DRGX,DUPD1,DUSP13,EBLN1,ECD,ECHDC3,EGR2,EIF4EBP2,ENKUR,EPC1,ERCC6,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM170B,FAM171A1,FAM188A,FAM208B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FBXO18,FLJ31813,FLJ45983,FRMD4A,FRMPD2,FRMPD2P1,FUT11,FXYD4,FZD8,GAD2,GATA3,GDF10,GDF2,GDI2,GJD4,GLUD1P3,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,GTPBP4,H2AFY2,HERC4,HK1,HKDC1,HNRNPA3P1,HNRNPF,HNRNPH3,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,JMJD1C,KAT6B,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283033,LOC283070,LOC338579,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC399753,LOC439949,LOC439950,LOC441666,LOC643650,LOC728407,LOC728643,LOC728978,LOC731789,LOC84856,LOC84989,LRRC18,LRRC20,LRRC37A6P,LRRTM3,LYZL1,LYZL2,M1,MAP3K8,MAPK8,MARCH8,MASTL,MBL2,MCM10,MCU,MEIG1,MICU1,MIR1256,MIR1265,MIR1296,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR3924,MIR4294,MIR4480,MIR4675,MIR4676,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5699,MIR603,MIR604,MIR605,MIR938,MKX,MLLT10,MPP7,MRC1,MRPS16,MSMB,MSRB2,MSS51,MTPAP,MTRNR2L5,MTRNR2L7,MYO3A,MYOZ1,MYPN,NCOA4,NDST2,NEBL,NET1,NEUROG3,NMT2,NODAL,NPFFR1,NRBF2,NRP1,NSUN6,NUDT13,NUDT5,OGDHL,OIT3,OLAH,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PARD3,PARG,PBLD,PCBD1,PCDH15,PDSS1,PFKFB3,PFKP,PGBD3,PHYH,PHYHIPL,PIP4K2A,PITRM1,PLA2G12B,PLAU,PLXDC2,PPA1,PPP3CB,PPYR1,PRF1,PRKCQ,PRKG1,PRPF18,PRTFDC1,PSAP,PTCHD3,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBM17,RBP3,REEP3,RET,RHOBTB1,RPP38,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SGMS1,SGPL1,SIRT1,SKIDA1,SLC16A9,SLC18A3,SLC25A16,SLC29A3,SLC39A12,SNORD98,SPAG6,SPOCK2,SRGN,ST8SIA6,STAM,STOX1,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACR2,TAF3,TAKR,TBATA,TET1,TFAM,THNSL1,TIMM23,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TRDMT1,TSPAN15,TTC18,TUBAL3,TUBB8,TYSND1,UBE2D1,UCMA,UCN3,UNC5B,UPF2,USP54,USP6NL,VCL,VDAC2,VIM,VPS26A,VSTM4,WAC,WDFY4,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZWINT chr10 17811791 65388337 Amplification Esophageal cancer affymetrix genechip human mapping 256K Nsp arrays 21851588 A1CF,ABI1,ACBD5,ACTR3BP5,ADO,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANK3,ANKRD26,ANKRD30A,ANXA8,ANXA8L1,ANXA8L2,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARID5B,ARL5B,ARMC3,ARMC4,ASAH2,ASAH2B,BAMBI,BICC1,BMI1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf107,C10orf113,C10orf114,C10orf128,C10orf25,C10orf40,C10orf53,C10orf67,C10orf68,C10orf71,CACNB2,CCDC6,CCDC7,CCNY,CDK1,CHAT,CISD1,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CSTF2T,CTSL1P2,CUL2,CXCL12,DKK1,DNAJC1,DRGX,EBLN1,EGR2,ENKUR,EPC1,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,FZD8,GAD2,GDF10,GDF2,GJD4,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,HNRNPA3P1,HNRNPF,HSD17B7P2,IPMK,ITGB1,JMJD1C,KIAA1217,KIAA1462,KIF5B,LINC00202,LINC00264,LINC00619,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100506939,LOC100507605,LOC220906,LOC283033,LOC338579,LOC387647,LOC399744,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC731789,LOC84856,LOC84989,LRRC18,LRRC37A6P,LYZL1,LYZL2,M1,MAP3K8,MAPK8,MARCH8,MASTL,MBL2,MIR1296,MIR1915,MIR3156-1,MIR3924,MIR4294,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR603,MIR604,MIR605,MIR938,MKX,MLLT10,MPP7,MRC1,MSMB,MSRB2,MTPAP,MTRNR2L5,MTRNR2L7,MYO3A,NCOA4,NEBL,NRBF2,NRP1,NSUN6,OGDHL,OR13A1,OTUD1,PARD3,PARG,PCDH15,PDSS1,PGBD3,PHYHIPL,PIP4K2A,PLXDC2,PPYR1,PRKG1,PRTFDC1,PTCHD3,PTF1A,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBP3,REEP3,RET,RHOBTB1,RSU1P2,RTKN2,SEPT7L,SGMS1,SKIDA1,SLC16A9,SLC18A3,SLC39A12,SPAG6,SVIL,SYT15,TFAM,THNSL1,TIMM23,TMEM236,TMEM26,TMEM72,TMEM72-AS1,UBE2D1,VSTM4,WAC,WDFY4,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZWINT chr10 1782397 1782670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 17832751 18174750 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR511-1,MIR511-2,MRC1,TMEM236 chr10 17834257 17882873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRC1,TMEM236 chr10 17834257 17882873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRC1,TMEM236 chr10 17834301 17858181 Gain and loss Pancreatic cancer SNP array 17952125 MRC1,TMEM236 chr10 17866791 18173655 Substitutions and indels small cell lung cancer array-CGH 20016488 MIR511-1,MIR511-2,MRC1,TMEM236 chr10 17882391 18129270 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 MIR511-1,MIR511-2,MRC1,TMEM236 chr10 17891368 17993180 Gain and loss Pancreatic cancer SNP array 17952125 MRC1 chr10 17891368 17993184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRC1 chr10 17891368 17993184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRC1 chr10 17920464 18202454 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MIR511-1,MIR511-2,MRC1,TMEM236 chr10 17922308 17931734 Gain Normal 244K array 17666407 MRC1 chr10 17927113 17927199 Gain and loss Pancreatic cancer SNP array 17952125 MRC1 chr10 17927113 17927199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRC1 chr10 1792911 1793061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 17949086 18630158 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CACNB2,LOC100129213,MIR511-1,MIR511-2,MRC1,SLC39A12,TMEM236 chr10 17984823 17984888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 17984823 17984998 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 17984823 17985005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 17998747 17999193 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr10 180384 292648 Gain Normal Birdsuite, version 1.5.2 22087296 ZMYND11 chr10 1805570 1805785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 180715 180810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMYND11 chr10 1 807526 LOH Normal High-resolution SNP genotyping 21211785 C10orf108,DIP2C,MIR5699,TUBB8,ZMYND11 chr10 18081224 18129861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRC1,TMEM236 chr10 18081224 18129861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRC1,TMEM236 chr10 18081268 18105171 Gain and loss Pancreatic cancer SNP array 17952125 MRC1,TMEM236 chr10 18138358 18240093 Gain and loss Pancreatic cancer SNP array 17952125 MRC1 chr10 18138358 18240097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRC1 chr10 18138358 18240097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRC1 chr10 18174042 18174128 Gain and loss Pancreatic cancer SNP array 17952125 MRC1 chr10 18174042 18174128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRC1 chr10 18174751 18261000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MRC1,SLC39A12 chr10 18202454 18992026 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARL5B,CACNB2,LOC100129213,NSUN6,SLC39A12 chr10 18225130 18840560 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CACNB2,LOC100129213,NSUN6,SLC39A12 chr10 18231737 18231802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 18231737 18231912 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 18231737 18231919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 18256647 27009267 Substitutions and indels small cell lung cancer array-CGH 20016488 APBB1IP,ARHGAP21,ARL5B,ARMC3,BMI1,C10orf113,C10orf114,C10orf67,CACNB2,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,ENKUR,GAD2,GPR158,GPR158-AS1,KIAA1217,LINC00264,LOC100128511,LOC100129213,LOC100130992,LOC100499489,LOC731789,MIR1915,MIR4675,MIR603,MLLT10,MSRB2,MYO3A,NEBL,NSUN6,OTUD1,PDSS1,PIP4K2A,PLXDC2,PRTFDC1,PTF1A,SKIDA1,SLC39A12,SPAG6,THNSL1 chr10 18280827 18372218 Gain and loss Pancreatic cancer SNP array 17952125 LOC100129213,SLC39A12 chr10 18280827 18372222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100129213,SLC39A12 chr10 18280827 18372222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100129213,SLC39A12 chr10 18283702 18283802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A12 chr10 18292434 18292534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100129213,SLC39A12 chr10 18310528 18310628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A12 chr10 1832407 1832728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 1832468 1832791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 18354186 18354218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 18373549 18373644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 18441724 18441852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNB2 chr10 1 84500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 18469612 18870797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNB2,NSUN6 chr10 18469612 18870797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNB2,NSUN6 chr10 18469672 18870044 Gain and loss Pancreatic cancer SNP array 17952125 CACNB2,NSUN6 chr10 18526341 18526411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNB2 chr10 18543084 18543597 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 CACNB2 chr10 18584501 18584533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNB2 chr10 18632998 18633098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNB2 chr10 18693692 18727640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNB2 chr10 18700000 22600000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ARL5B,C10orf113,C10orf114,CACNB2,DNAJC1,EBLN1,LOC100128511,LOC100130992,MIR1915,MIR4675,MLLT10,NEBL,NSUN6,PLXDC2,SKIDA1 chr10 18795777 18829313 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNB2 chr10 18808195 18808295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNB2 chr10 18874497 18980556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL5B,NSUN6 chr10 18874497 18980556 Gain and loss Pancreatic cancer SNP array 17952125 ARL5B,NSUN6 chr10 18874497 18980556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL5B,NSUN6 chr10 18915578 20359636 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-643K arrays 21546498 ARL5B,NSUN6,PLXDC2 chr10 18988319 19006946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 18988319 19006946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 18988340 19006946 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 18992026 20571170 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 PLXDC2 chr10 1900044 1900242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 19052209 19052309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19064680 19067566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 19067436 19067536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 190766 190883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYND11 chr10 19105252 19105352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 1913990 1914085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19188312 19188412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19203838 19239139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 19256673 19417992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 19269436 19269888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 19286592 19303974 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 19380390 19381105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 19429355 19429450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19437315 19437651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 19443975 19444075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19455581 19867290 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 19465690 19465757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19532671 19538622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 19533764 19533851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19544652 19544790 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 19550718 19550953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19574105 19578834 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 19683194 19835050 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 19684689 19685245 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr10 19754643 20065000 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 19786194 19786294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19792324 19836701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 19818029 19896508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 19820007 19820234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 19826316 20101261 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 19847881 20917867 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4675,PLXDC2 chr10 19877347 19877379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19900000 20500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 PLXDC2 chr10 19915670 19915770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 19927182 19927397 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 19927182 19927397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 19927182 19927398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 19950356 20079640 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 19962617 19962738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 19962617 19962738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 1998880 2027332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 20018941 20019032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20034901 20039900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 20036513 20038421 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 20036513 20038421 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr10 2003662 2003844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 20037035 20038018 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 20074664 20074696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20076373 20076447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 20076373 20076447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 20076531 20076598 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 20076531 20076598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 20076615 20076687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 20076615 20076687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 20076689 20076756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 20076689 20076756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 20076758 20077556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 20112492 20112595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXDC2 chr10 20121933 20122036 Gain and loss Pancreatic cancer SNP array 17952125 PLXDC2 chr10 20121933 20122036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXDC2 chr10 20145174 20609292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLXDC2 chr10 20145174 20609292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXDC2 chr10 20145377 20609121 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PLXDC2 chr10 20145378 20609125 Gain and loss Pancreatic cancer SNP array 17952125 PLXDC2 chr10 20252115 20252210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXDC2 chr10 20268730 20269197 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 PLXDC2 chr10 20283634 20283719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXDC2 chr10 20290116 20431400 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLXDC2 chr10 20294471 20294571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXDC2 chr10 20341906 20361603 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLXDC2 chr10 20475988 20476088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXDC2 chr10 20517951 20518118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLXDC2 chr10 20562046 20586844 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLXDC2 chr10 20571170 25928980 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARHGAP21,ARMC3,BMI1,C10orf113,C10orf114,C10orf67,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,ENKUR,GPR158,GPR158-AS1,KIAA1217,LOC100128511,LOC100130992,LOC100499489,MIR1915,MIR4675,MIR603,MLLT10,MSRB2,NEBL,OTUD1,PIP4K2A,PRTFDC1,PTF1A,SKIDA1,SPAG6,THNSL1 chr10 2057168 2057249 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 20573714 20573814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20603224 21453315 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C10orf113,MIR4675,NEBL chr10 20616545 20627335 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 20621454 20621554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20666935 20667014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20678984 20680035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 2069543 2069643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20707252 20707571 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 20726725 20938614 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 MIR4675 chr10 20726725 20938614 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4675 chr10 2077335 2077527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 2077457 2077557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20782567 20938614 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4675 chr10 20791409 20859294 Gain and loss Pancreatic cancer SNP array 17952125 MIR4675 chr10 20854639 20860781 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr10 20854955 20856849 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 20863579 21863579 Deletion or amplification Glioblastoma multiforme - 21525872 C10orf113,C10orf114,LOC100128511,MIR1915,MLLT10,NEBL,SKIDA1 chr10 20864457 20864573 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 20885816 20900867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 20886333 20900311 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 20886333 20900311 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 20890118 20893540 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 20890501 20899500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 20890630 20897371 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr10 20890924 20894590 Loss Normal 244K array 17666407 NOT_FOUND chr10 20937789 20937873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20946023 20965672 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 20955488 20971140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 20962580 20962680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 20964946 20997482 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 210000 4560000 Gain Breast cancer aCGH 21509527 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,KLF6,LARP4B,LINC00200,LOC100507034,LOC282980,LOC399708,MIR5699,PFKP,PITRM1,WDR37,ZMYND11 chr10 21008725 23447740 LOH Normal High-resolution SNP genotyping 21211785 ARMC3,BMI1,C10orf113,C10orf114,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,LOC100128511,LOC100130992,LOC100499489,MIR1915,MLLT10,MSRB2,NEBL,PIP4K2A,SKIDA1,SPAG6 chr10 21098139 21453315 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C10orf113,NEBL chr10 21110096 21503122 Gain and loss Pancreatic cancer SNP array 17952125 C10orf113,LOC100128511,NEBL chr10 21110098 21502768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf113,LOC100128511,NEBL chr10 21110098 21502768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf113,LOC100128511,NEBL chr10 21119664 21119730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEBL chr10 21133228 21133512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEBL chr10 21170310 21170495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEBL chr10 2118719 2118834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 21192648 21192824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEBL chr10 21192755 21192835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEBL chr10 21192829 21192979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEBL chr10 21235307 21235392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEBL chr10 21264271 22874963 LOH Normal High-resolution SNP genotyping 21211785 BMI1,C10orf113,C10orf114,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,LOC100128511,LOC100130992,LOC100499489,MIR1915,MLLT10,NEBL,PIP4K2A,SKIDA1,SPAG6 chr10 21357934 21359727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEBL chr10 2137250 2143239 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr10 2137250 2143239 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 21385831 21400706 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEBL chr10 21403734 21403829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEBL chr10 21404401 21404436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEBL chr10 2143855 2178421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 21439617 21442323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEBL chr10 214399 11961014 Loss Prostate cancer Array CGH 18632612 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,C10orf108,C10orf47,CALML3,CALML5,CELF2,DIP2C,ECHDC3,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MIR3155A,MIR3155B,MIR5699,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,SFMBT2,SFTA1P,TAF3,TAKR,TUBAL3,UCN3,USP6NL,WDR37,ZMYND11 chr10 214399 1474060 Loss Prostate cancer Array CGH 18632612 ADARB2,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,MIR5699,WDR37,ZMYND11 chr10 214400 133778456 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SRGN,ST8SIA6,STAM,STAMBPL1,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TUBAL3,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,VAX1,VCL,VDAC2,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZRANB1,ZWINT chr10 21454698 21475433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128511,NEBL chr10 21454698 21475433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128511,NEBL chr10 21460580 21460674 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEBL chr10 2148907 2149007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 21511131 22902566 LOH Normal High-resolution SNP genotyping 21211785 BMI1,C10orf114,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,LOC100130992,LOC100499489,MIR1915,MLLT10,PIP4K2A,SKIDA1,SPAG6 chr10 21546826 21547214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 21552505 21552505 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 21576687 21577030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 21645304 22645304 Deletion or amplification Glioblastoma multiforme - 21525872 BMI1,C10orf114,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,LOC100130992,MIR1915,MLLT10,SKIDA1,SPAG6 chr10 21650896 21651002 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 21650896 21651002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 21691450 21691550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 21706669 21706752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 21706873 23101421 LOH Normal High-resolution SNP genotyping 21211785 BMI1,C10orf114,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,LOC100130992,LOC100499489,MIR1915,MLLT10,PIP4K2A,SKIDA1,SPAG6 chr10 21722968 21723527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 21727129 21818381 Duplication Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V11 BeadChip 22016809 C10orf114,MIR1915,SKIDA1 chr10 21731533 23384840 LOH Normal High-resolution SNP genotyping 21211785 ARMC3,BMI1,C10orf114,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,LOC100130992,LOC100499489,MIR1915,MLLT10,MSRB2,PIP4K2A,SKIDA1,SPAG6 chr10 21793359 21793763 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 2180153 2180253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 218072 1218072 Deletion or amplification Glioblastoma multiforme - 21525872 C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,MIR5699,WDR37,ZMYND11 chr10 21810651 21810749 Gain and loss Pancreatic cancer SNP array 17952125 SKIDA1 chr10 21810651 21810750 Gain and loss Pancreatic cancer SNP array 17952125 SKIDA1 chr10 21810651 21810752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SKIDA1 chr10 21822848 21949193 Loss Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 MLLT10 chr10 21823427 21826197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLLT10 chr10 21823427 21826197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT10 chr10 21825497 21825576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT10 chr10 21827272 22035446 Amplification or deletion Cancer Array CGH 17440070 MLLT10 chr10 21828501 21829500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MLLT10 chr10 21842414 21854617 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MLLT10 chr10 21842417 21854617 Gain and loss Pancreatic cancer SNP array 17952125 MLLT10 chr10 21844031 21854617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLLT10 chr10 21844031 21854617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT10 chr10 21863107 22072560 Amplification Normal GISTIC2.0 21527027 DNAJC1,MLLT10 chr10 21863107 22072560 Gain or loss Breast cancer - 20668451 DNAJC1,MLLT10 chr10 21863107 22072560 Gain or loss Cancer - 20668451 DNAJC1,MLLT10 chr10 21863107 22072560 Gain or loss Lung cancer - 20668451 DNAJC1,MLLT10 chr10 21863107 22072560 Gain or loss Ovarian cancer - 20668451 DNAJC1,MLLT10 chr10 21863107 22072560 Gain or loss Pancreas cancer - 20668451 DNAJC1,MLLT10 chr10 21863107 22072560 Gain or loss Prostate cancer - 20668451 DNAJC1,MLLT10 chr10 21863108 22072560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC1,MLLT10 chr10 21863108 22072560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC1,MLLT10 chr10 21863273 22071446 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC1,MLLT10 chr10 21893278 22027081 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 MLLT10 chr10 21893406 21893512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT10 chr10 21893409 21893512 Gain and loss Pancreatic cancer SNP array 17952125 MLLT10 chr10 21903086 22813984 Loss Prostate cancer Array CGH 18632612 BMI1,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,LOC100130992,LOC100499489,MLLT10,SPAG6 chr10 21913894 21913994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLLT10 chr10 21948000 22325000 Hemizygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 DNAJC1,MLLT10 chr10 21948000 22325000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 DNAJC1,MLLT10 chr10 21948809 24410943 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ARMC3,BMI1,C10orf67,COMMD3,COMMD3-BMI1,DNAJC1,EBLN1,KIAA1217,LOC100130992,LOC100499489,MLLT10,MSRB2,OTUD1,PIP4K2A,PTF1A,SPAG6 chr10 21951175 21951275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLLT10 chr10 21953527 21954411 Gain and loss Pancreatic cancer SNP array 17952125 MLLT10 chr10 21953527 21955221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT10 chr10 21963080 21963180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLLT10 chr10 21990570 21990676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT10 chr10 21990573 21990676 Gain and loss Pancreatic cancer SNP array 17952125 MLLT10 chr10 21990574 21990676 Gain and loss Pancreatic cancer SNP array 17952125 MLLT10 chr10 22038412 22038506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 220603 220703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMYND11 chr10 22085484 22332704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC1 chr10 22085484 22332704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC1 chr10 22085513 22332476 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC1 chr10 22116501 22118000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAJC1 chr10 22132858 22268637 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DNAJC1 chr10 22195406 22195506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJC1 chr10 22223283 22223451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC1 chr10 22262078 22262360 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC1 chr10 22262078 22262373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC1 chr10 22262078 22262407 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC1 chr10 22295757 22295857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 2231581 2231682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 2231588 2231682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 22331055 23803235 LOH Normal High-resolution SNP genotyping 21211785 ARMC3,BMI1,C10orf67,COMMD3,COMMD3-BMI1,EBLN1,LOC100130992,LOC100499489,MSRB2,OTUD1,PIP4K2A,PTF1A,SPAG6 chr10 2240887 2240987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 22479663 22479762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 22491927 22494729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 22491927 22494729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 22492027 22493241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 22538240 22538939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 22538240 22538939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 22538268 22538864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 22554633 22554959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 22595926 22596141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 22600723 22600868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 22623349 22623434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 22623527 22623562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 22645305 22649243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPAG6 chr10 22645305 22649243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG6 chr10 22645324 22649238 Gain and loss Pancreatic cancer SNP array 17952125 SPAG6 chr10 22646000 32246000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP12,ARHGAP21,ARMC3,ARMC4,BAMBI,C10orf67,ENKUR,GAD2,GPR158,GPR158-AS1,KIAA1217,KIAA1462,LINC00202,LINC00264,LOC100499489,LOC100507605,LOC220906,LOC387647,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR5586,MIR603,MIR604,MIR938,MKX,MPP7,MSRB2,MTPAP,MYO3A,OTUD1,PDSS1,PIP4K2A,PRTFDC1,PTCHD3,PTF1A,RAB18,SPAG6,SVIL,THNSL1,WAC,YME1L1,ZEB1,ZEB1-AS1,ZNF438 chr10 22649914 22650198 Gain Autism 1M Ailent CGH whole-genome array 21865298 SPAG6 chr10 22649914 22650198 Loss Autism 1M Ailent CGH whole-genome array 21865298 SPAG6 chr10 22650146 22660188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPAG6 chr10 22650146 22660188 Gain and loss Pancreatic cancer SNP array 17952125 SPAG6 chr10 22650146 22660188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG6 chr10 22674405 22746531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100499489,SPAG6 chr10 22674405 22746531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100499489,SPAG6 chr10 22674405 22746544 Gain and loss Pancreatic cancer SNP array 17952125 LOC100499489,SPAG6 chr10 22674405 22746545 Deletion T-cell lymphomas Array-CGH 22341440 LOC100499489,SPAG6 chr10 22723357 22941760 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 LOC100499489,PIP4K2A chr10 22724755 22759289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100499489 chr10 22789964 22790006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 22800000 24100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ARMC3,C10orf67,KIAA1217,MSRB2,OTUD1,PIP4K2A,PTF1A chr10 22838900 22838977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIP4K2A chr10 2283989 22566131 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ACBD7,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ARL5B,ASB13,ATP5C1,BEND7,C10orf111,C10orf113,C10orf114,C10orf47,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,DNAJC1,EBLN1,ECHDC3,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,HSPA14,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIN,KLF6,LOC100128098,LOC100128511,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC283070,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR511-1,MIR511-2,MLLT10,MRC1,NEBL,NET1,NMT2,NSUN6,NUDT5,OLAH,OPTN,PFKFB3,PFKP,PHYH,PITRM1,PLXDC2,PRKCQ,PRPF18,PTER,PTPLA,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SKIDA1,SLC39A12,ST8SIA6,STAM,SUV39H2,TAF3,TAKR,TMEM236,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM chr10 2284983 2285083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 22854210 23744923 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ARMC3,C10orf67,MSRB2,OTUD1,PIP4K2A,PTF1A chr10 22863772 23043509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIP4K2A chr10 22863772 23043509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIP4K2A chr10 22865829 23043490 Gain and loss Pancreatic cancer SNP array 17952125 PIP4K2A chr10 22903497 23312557 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARMC3,PIP4K2A chr10 22903497 23312557 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARMC3,PIP4K2A chr10 22935746 22964707 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PIP4K2A chr10 22939356 22958157 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PIP4K2A chr10 22939356 22958922 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PIP4K2A chr10 23032969 39064552 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABI1,ACBD5,ACTR3BP5,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARMC3,ARMC4,BAMBI,C10orf67,C10orf68,CCDC7,CCNY,CREM,CUL2,ENKUR,EPC1,FZD8,GAD2,GJD4,GPR158,GPR158-AS1,HSD17B7P2,ITGB1,KIAA1217,KIAA1462,KIF5B,LINC00202,LINC00264,LOC100129055,LOC100419868,LOC100505583,LOC100507605,LOC220906,LOC387647,LOC399744,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR4683,MIR5586,MIR603,MIR604,MIR938,MKX,MPP7,MSRB2,MTPAP,MTRNR2L7,MYO3A,NRP1,OTUD1,PARD3,PDSS1,PRTFDC1,PTCHD3,PTF1A,RAB18,SEPT7L,SVIL,THNSL1,WAC,YME1L1,ZEB1,ZEB1-AS1,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 23051822 24328375 LOH Normal High-resolution SNP genotyping 21211785 ARMC3,C10orf67,KIAA1217,MSRB2,OTUD1,PTF1A chr10 23093089 23093189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 23100929 23101029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 23102123 23102223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 23116328 23116434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 23116328 23116434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23256959 23366520 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ARMC3 chr10 23256966 23366514 Gain and loss Pancreatic cancer SNP array 17952125 ARMC3 chr10 23256966 23366524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC3 chr10 23264632 23264732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARMC3 chr10 23326190 23326293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC3 chr10 23326195 23326286 Gain and loss Pancreatic cancer SNP array 17952125 ARMC3 chr10 23326195 23326286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC3 chr10 23403318 23403413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSRB2 chr10 23424433 23450948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23424433 23450948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23424437 23449905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 23440774 23440881 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 23465811 23466596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 23465874 23466141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23466272 23466867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23495953 23496037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 23495953 23496037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23521466 23522841 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 23521466 23523185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23521466 23523185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23532751 23579616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23532751 23579616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23550439 23550580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 23550452 23550580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23551932 24892077 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP21,C10orf67,KIAA1217,MIR603,OTUD1 chr10 23587146 23587480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23596130 23673780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf67 chr10 23645525 23673778 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr10 23645527 23673778 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 23655406 23655483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 23663470 23697256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 23675499 23675627 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 23687182 23687282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 2369471 2369797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 23708596 23708695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 23728466 23728534 Gain and loss Pancreatic cancer SNP array 17952125 OTUD1 chr10 23728466 23728534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUD1 chr10 23741155 23748353 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 23768203 23771314 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr10 23768203 23771314 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 23768203 23771314 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 23768203 23771314 Gain or loss Cancer - 20668451 NOT_FOUND chr10 23768203 23771314 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 23768203 23771314 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 23768203 23771314 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 23768203 23771314 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 23768204 23771109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23768204 23771109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 23769179 23769838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 23910031 23910100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 23979157 23979257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 24023681 24876778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP21,KIAA1217,MIR603 chr10 24023681 24876778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP21,KIAA1217,MIR603 chr10 24083107 24083207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24086323 24086419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24094677 24126978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA1217 chr10 24100000 28300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP21,ARMC4,ENKUR,GAD2,GPR158,GPR158-AS1,KIAA1217,LINC00202,LINC00264,LOC731789,LRRC37A6P,MASTL,MIR603,MKX,MYO3A,PDSS1,PRTFDC1,PTCHD3,RAB18,THNSL1,YME1L1 chr10 24100000 28300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP21,ARMC4,ENKUR,GAD2,GPR158,GPR158-AS1,KIAA1217,LINC00202,LINC00264,LOC731789,LRRC37A6P,MASTL,MIR603,MKX,MYO3A,PDSS1,PRTFDC1,PTCHD3,RAB18,THNSL1,YME1L1 chr10 24100000 28300000 Heterozygous deletion Autism Affymetrix 500K arrays and Affymetrix 6.0 SNP array 21439084 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP21,ARMC4,ENKUR,GAD2,GPR158,GPR158-AS1,KIAA1217,LINC00202,LINC00264,LOC731789,LRRC37A6P,MASTL,MIR603,MKX,MYO3A,PDSS1,PRTFDC1,PTCHD3,RAB18,THNSL1,YME1L1 chr10 24100000 28300000 Loss Maculopathy Human Mapping 500K Array and SNP Array 5.0 20981449 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP21,ARMC4,ENKUR,GAD2,GPR158,GPR158-AS1,KIAA1217,LINC00202,LINC00264,LOC731789,LRRC37A6P,MASTL,MIR603,MKX,MYO3A,PDSS1,PRTFDC1,PTCHD3,RAB18,THNSL1,YME1L1 chr10 24123992 24124081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24155707 24155784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24190015 24222059 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA1217 chr10 24191926 24192026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24201315 24206056 Gain Normal Birdsuite, version 1.5.2 22087296 KIAA1217 chr10 2424456 2424610 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 24244563 24244663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24244785 24349285 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KIAA1217 chr10 24269057 24269157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24280490 24290152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA1217 chr10 24281334 24281432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24311666 24344880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA1217 chr10 24321737 24321878 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1217 chr10 24321737 24321878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1217 chr10 24323719 24323819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24332458 24332558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24374603 24374648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24408986 24409055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24412311 24418914 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KIAA1217 chr10 24412763 24418060 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KIAA1217 chr10 24415258 24418944 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KIAA1217 chr10 24415258 24420691 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KIAA1217 chr10 24415269 24417680 Loss Normal Birdsuite, version 1.5.2 22087296 KIAA1217 chr10 24415501 24420300 Deletion Glioma mate-paired sequence 20126413 KIAA1217 chr10 24416844 24418446 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1217 chr10 24417668 24418048 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KIAA1217 chr10 24417680 24419045 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KIAA1217 chr10 24417680 24419045 Loss Normal Birdsuite, version 1.5.2 22087296 KIAA1217 chr10 24486770 24487716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1217 chr10 24537725 24876778 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ARHGAP21,KIAA1217,MIR603 chr10 24538099 24876777 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP21,KIAA1217,MIR603 chr10 24582591 24582690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24592445 24592545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24600000 135534747 Loss Gastric cancer 5K BAC array CGH 17908304 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCDC7,CCNJ,CCNY,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRG2B,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GBF1,GDF10,GDF2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITGB1,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100129055,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100419868,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC220906,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387647,LOC387723,LOC399744,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MMP21,MMRN2,MMS19,MORN4,MPP7,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SEPT7L,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SPRNP1,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SVIL,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 24600000 29600000 Deletion Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP21,ARMC4,BAMBI,ENKUR,GAD2,GPR158,GPR158-AS1,KIAA1217,LINC00202,LINC00264,LOC100507605,LOC220906,LOC731789,LRRC37A6P,LYZL1,MASTL,MIR5586,MKX,MPP7,MYO3A,PDSS1,PRTFDC1,PTCHD3,RAB18,THNSL1,WAC,YME1L1 chr10 24600000 31300000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP21,ARMC4,BAMBI,ENKUR,GAD2,GPR158,GPR158-AS1,KIAA1217,KIAA1462,LINC00202,LINC00264,LOC100507605,LOC220906,LOC387647,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR5586,MIR604,MIR938,MKX,MPP7,MTPAP,MYO3A,PDSS1,PRTFDC1,PTCHD3,RAB18,SVIL,THNSL1,WAC,YME1L1,ZNF438 chr10 24600000 38000000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABI1,ACBD5,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARMC4,BAMBI,C10orf68,CCDC7,CCNY,CREM,CUL2,ENKUR,EPC1,FZD8,GAD2,GJD4,GPR158,GPR158-AS1,ITGB1,KIAA1217,KIAA1462,KIF5B,LINC00202,LINC00264,LOC100505583,LOC100507605,LOC220906,LOC387647,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR4683,MIR5586,MIR604,MIR938,MKX,MPP7,MTPAP,MTRNR2L7,MYO3A,NRP1,PARD3,PDSS1,PRTFDC1,PTCHD3,RAB18,SVIL,THNSL1,WAC,YME1L1,ZEB1,ZEB1-AS1,ZNF438 chr10 24604620 24604716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1217 chr10 24748250 24748308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24774927 24775001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24782997 25500769 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP21,ENKUR,GPR158,GPR158-AS1,KIAA1217,PRTFDC1,THNSL1 chr10 24810279 24810638 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1217 chr10 24825113 24825213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1217 chr10 24847682 24850745 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 24912548 25052550 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ARHGAP21 chr10 24912551 25052550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP21 chr10 24912551 25052550 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP21 chr10 24912551 25052550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP21 chr10 24926597 24956736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP21 chr10 24960379 24960479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP21 chr10 24969101 24969219 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP21 chr10 24969101 24969219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP21 chr10 24969101 24969221 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP21 chr10 25015345 25015445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 25068617 25307615 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ENKUR,PRTFDC1,THNSL1 chr10 25071698 25071784 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 25075193 25075288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 25109265 25109365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 25138088 25138425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRTFDC1 chr10 25171770 25171870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRTFDC1 chr10 25177560 25281539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENKUR,PRTFDC1 chr10 25177560 25281539 Gain and loss Pancreatic cancer SNP array 17952125 ENKUR,PRTFDC1 chr10 25177560 25281539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENKUR,PRTFDC1 chr10 25177937 25178608 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PRTFDC1 chr10 25196580 25197125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRTFDC1 chr10 2520867 2565542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 25226132 25854811 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ENKUR,GPR158,GPR158-AS1,PRTFDC1,THNSL1 chr10 25237424 25237747 Gain and loss Pancreatic cancer SNP array 17952125 PRTFDC1 chr10 25237508 25237747 Gain and loss Pancreatic cancer SNP array 17952125 PRTFDC1 chr10 25240974 36004765 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP12,ARMC4,BAMBI,C10orf68,CCDC7,CCNY,CREM,CUL2,ENKUR,EPC1,FZD8,GAD2,GJD4,GPR158,GPR158-AS1,ITGB1,KIAA1462,KIF5B,LINC00202,LINC00264,LOC100505583,LOC100507605,LOC220906,LOC387647,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR4683,MIR5586,MIR604,MIR938,MKX,MPP7,MTPAP,MYO3A,NRP1,PARD3,PDSS1,PRTFDC1,PTCHD3,RAB18,SVIL,THNSL1,WAC,YME1L1,ZEB1,ZEB1-AS1,ZNF438 chr10 25262156 25934737 LOH Normal High-resolution SNP genotyping 21211785 ENKUR,GPR158,GPR158-AS1,THNSL1 chr10 25268333 25268423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 25279339 25279415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENKUR chr10 25310923 25345091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENKUR,THNSL1 chr10 25310923 25345091 Gain and loss Pancreatic cancer SNP array 17952125 ENKUR,THNSL1 chr10 25310923 25345091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENKUR,THNSL1 chr10 2533530 2533718 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 2533541 2534107 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 25345514 25355597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENKUR chr10 25345514 25355597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENKUR chr10 25345601 25355597 Gain and loss Pancreatic cancer SNP array 17952125 ENKUR chr10 25376338 25434250 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 25445559 25445679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 25458233 25458327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR158-AS1 chr10 2546144 2546235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 25487700 25487919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR158 chr10 25500769 26866262 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APBB1IP,GAD2,GPR158,MYO3A chr10 25503501 25505500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR158 chr10 25504296 25928513 Gain and loss Pancreatic cancer SNP array 17952125 GPR158 chr10 25504296 25931164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR158 chr10 25504296 25931164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR158 chr10 25520495 25520590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR158 chr10 2553048 2553148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 2553319 2554542 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 2553501 2555500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 25545599 26545599 Deletion or amplification Glioblastoma multiforme - 21525872 GAD2,GPR158,MYO3A chr10 25562286 25716374 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPR158 chr10 2558717 2558717 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 25634365 25893865 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GPR158 chr10 25665327 25756077 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 GPR158 chr10 25678293 25678839 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR158 chr10 25707688 25707908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR158 chr10 25722462 25722779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR158 chr10 25722540 25722777 Gain and loss Pancreatic cancer SNP array 17952125 GPR158 chr10 25722540 25722777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR158 chr10 25747611 25747711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR158 chr10 25757018 25757117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR158 chr10 25766227 25772423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR158 chr10 25957111 25957326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 25957334 25957463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 259695 2255199 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ADARB2,ADARB2-AS1,C10orf108,DIP2C,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,LOC282980,MIR5699,WDR37,ZMYND11 chr10 25976505 25977039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 26030462 27568983 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 ABI1,ACBD5,ANKRD26,APBB1IP,GAD2,LINC00202,LINC00264,LOC731789,LRRC37A6P,MASTL,MYO3A,PDSS1,YME1L1 chr10 26117594 27298676 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABI1,ANKRD26,APBB1IP,GAD2,LINC00202,LINC00264,LOC731789,MYO3A,PDSS1 chr10 26142744 26142852 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 26142744 26142852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 26142746 26142852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 26148298 26148361 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 26148298 26148361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 26197202 26197297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 26210970 32104561 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABI1,ACBD5,ANKRD26,APBB1IP,ARHGAP12,ARMC4,BAMBI,GAD2,KIAA1462,LINC00202,LINC00264,LOC100507605,LOC220906,LOC387647,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR5586,MIR604,MIR938,MKX,MPP7,MTPAP,MYO3A,PDSS1,PTCHD3,RAB18,SVIL,WAC,YME1L1,ZEB1,ZEB1-AS1,ZNF438 chr10 26221037 26221154 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 26248991 26249102 Gain and loss Pancreatic cancer SNP array 17952125 MYO3A chr10 26248994 26249133 Gain and loss Pancreatic cancer SNP array 17952125 MYO3A chr10 26263008 26541471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAD2,MYO3A chr10 26263008 26541471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAD2,MYO3A chr10 26263202 26541462 Gain and loss Pancreatic cancer SNP array 17952125 GAD2,MYO3A chr10 26385500 26401309 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MYO3A chr10 26393664 26393696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO3A chr10 26394758 26395074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO3A chr10 26410034 26410134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO3A chr10 26486300 26486300 Copy number Prostate cancer Illumina GA II sequencer 21307934 MYO3A chr10 2650802 2839892 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 NOT_FOUND chr10 2650802 3188773 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100507034,PFKP,PITRM1 chr10 26529891 26531307 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GAD2 chr10 26545242 26633493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAD2 chr10 26545242 26633493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAD2 chr10 26545600 26633493 Gain and loss Pancreatic cancer SNP array 17952125 GAD2 chr10 26562505 26562605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAD2 chr10 26597248 26597348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 26648226 26648333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 26723708 26737313 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APBB1IP chr10 26726161 26729773 Gain or loss Normal Birdsuite, version 1.5.2 22087296 APBB1IP chr10 26767272 26896736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APBB1IP,LINC00264 chr10 26767272 26896736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APBB1IP,LINC00264 chr10 26767360 26896736 Gain and loss Pancreatic cancer SNP array 17952125 APBB1IP,LINC00264 chr10 26772024 26772084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APBB1IP chr10 26783068 28017293 LOH Normal High-resolution SNP genotyping 21211785 ABI1,ACBD5,ANKRD26,APBB1IP,LINC00202,LINC00264,LOC731789,LRRC37A6P,MASTL,MKX,PDSS1,PTCHD3,RAB18,YME1L1 chr10 26800000 31100000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ABI1,ACBD5,ANKRD26,APBB1IP,ARMC4,BAMBI,KIAA1462,LINC00202,LINC00264,LOC100507605,LOC220906,LOC387647,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR5586,MIR604,MIR938,MKX,MPP7,MTPAP,PDSS1,PTCHD3,RAB18,SVIL,WAC,YME1L1 chr10 26807948 26808253 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APBB1IP chr10 26833877 26833977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APBB1IP chr10 26838524 26838639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APBB1IP chr10 26838525 26838639 Gain and loss Pancreatic cancer SNP array 17952125 APBB1IP chr10 26838529 26838612 Gain and loss Pancreatic cancer SNP array 17952125 APBB1IP chr10 26887081 26887181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 26910848 26968362 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 LOC731789 chr10 26990000 30260000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABI1,ACBD5,ANKRD26,ARMC4,BAMBI,LINC00202,LOC100507605,LOC220906,LOC387647,LRRC37A6P,LYZL1,MASTL,MIR5586,MIR604,MIR938,MKX,MPP7,PDSS1,PTCHD3,RAB18,SVIL,WAC,YME1L1 chr10 27015699 27043707 Substitutions and indels small cell lung cancer array-CGH 20016488 ABI1,PDSS1 chr10 27026601 27075730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABI1,PDSS1 chr10 27026601 27075730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI1,PDSS1 chr10 27030164 28692884 LOH Normal High-resolution SNP genotyping 21211785 ABI1,ACBD5,ANKRD26,ARMC4,LINC00202,LRRC37A6P,MASTL,MKX,MPP7,PDSS1,PTCHD3,RAB18,YME1L1 chr10 27031085 27075408 Gain and loss Pancreatic cancer SNP array 17952125 ABI1,PDSS1 chr10 27037001 27044000 Deletion Glioma mate-paired sequence 20126413 ABI1 chr10 27039022 27042159 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ABI1 chr10 27039121 27041860 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ABI1 chr10 27039127 27042309 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ABI1 chr10 27040749 27153965 Amplification or deletion Cancer Array CGH 17440070 ABI1 chr10 27043557 27044767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI1 chr10 27049023 32641923 Substitutions and indels small cell lung cancer array-CGH 20016488 ABI1,ACBD5,ANKRD26,ARHGAP12,ARMC4,BAMBI,EPC1,KIAA1462,KIF5B,LINC00202,LOC100507605,LOC220906,LOC387647,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MIR5586,MIR604,MIR938,MKX,MPP7,MTPAP,PTCHD3,RAB18,SVIL,WAC,YME1L1,ZEB1,ZEB1-AS1,ZNF438 chr10 27059734 27059834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABI1 chr10 27075528 27189965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABI1 chr10 27075528 27189965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI1 chr10 27075530 27189965 Gain or loss Breast cancer - 20668451 ABI1 chr10 27075530 27189965 Gain or loss Cancer - 20668451 ABI1 chr10 27075530 27189965 Gain or loss Lung cancer - 20668451 ABI1 chr10 27075530 27189965 Gain or loss Ovarian cancer - 20668451 ABI1 chr10 27075530 27189965 Gain or loss Pancreas cancer - 20668451 ABI1 chr10 27075530 27189965 Gain or loss Prostate cancer - 20668451 ABI1 chr10 27075530 27189965 Translate Acute myeloid leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 ABI1 chr10 27075830 27189873 Gain and loss Pancreatic cancer SNP array 17952125 ABI1 chr10 27106087 27115528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABI1 chr10 27117109 27117199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABI1 chr10 27117952 27118091 Gain and loss Pancreatic cancer SNP array 17952125 ABI1 chr10 27117952 27118091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI1 chr10 27117952 27118092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI1 chr10 27119475 27119581 Gain and loss Pancreatic cancer SNP array 17952125 ABI1 chr10 27119475 27119581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI1 chr10 27141104 28141104 Deletion or amplification Glioblastoma multiforme - 21525872 ABI1,ACBD5,ANKRD26,ARMC4,LINC00202,LRRC37A6P,MASTL,MKX,PTCHD3,RAB18,YME1L1 chr10 27146706 27656215 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-655K arrays 21546498 ABI1,ACBD5,ANKRD26,LINC00202,LRRC37A6P,MASTL,YME1L1 chr10 27197100 27197198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27197100 27197198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27199038 27223531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00202 chr10 27203823 27231133 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00202 chr10 27208739 27228706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00202 chr10 2721124 2721268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 27217905 27224920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00202 chr10 27218619 27224777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00202 chr10 27219641 27233033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00202 chr10 27219997 27228975 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00202 chr10 27252512 27266026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 27260140 27270936 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 27264207 27268091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 27264678 27269584 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 27265910 27268479 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 27286896 27286996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 27324005 27429433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD26,YME1L1 chr10 27324005 27429433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD26,YME1L1 chr10 27333050 27429433 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ANKRD26,YME1L1 chr10 27334445 27429411 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD26,YME1L1 chr10 27417256 27417362 Gain and loss Pancreatic cancer SNP array 17952125 YME1L1 chr10 27417256 27417362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YME1L1 chr10 27417257 27417362 Gain and loss Pancreatic cancer SNP array 17952125 YME1L1 chr10 27429765 27430178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YME1L1 chr10 27439394 27483327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MASTL,YME1L1 chr10 27439394 27483327 Gain and loss Pancreatic cancer SNP array 17952125 MASTL,YME1L1 chr10 27439394 27483327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MASTL,YME1L1 chr10 27484270 27515854 Gain and loss Pancreatic cancer SNP array 17952125 ACBD5 chr10 27484298 27515854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACBD5 chr10 27484298 27515854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD5 chr10 27524149 27571065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACBD5,LRRC37A6P chr10 27524149 27571065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD5,LRRC37A6P chr10 27525753 27571065 Gain and loss Pancreatic cancer SNP array 17952125 ACBD5,LRRC37A6P chr10 2754689 2754789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 27575285 27580728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27575285 27580728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27577935 27579398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27601279 29185054 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARMC4,BAMBI,LOC100507605,LOC220906,MIR5586,MKX,MPP7,PTCHD3,RAB18,WAC chr10 27607978 27620348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27644055 27644161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27644055 27644161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27644056 27644161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27660292 27670187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27662539 27694593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTCHD3 chr10 27664436 27664542 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27664436 27664542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27665772 27670190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27678260 27682099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 27678647 27679225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27678647 27679225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27707073 27707297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27723357 27734770 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 27727122 27743303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27727122 27743303 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr10 27727122 27743303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27727122 27743303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27747356 27747441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 27793248 27829098 Deletion Prostate cancer aCGH 22341455 RAB18 chr10 27833239 27869103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 27833255 27869103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27833255 27869103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 27875375 27875475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 27882185 27914807 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 27929708 27929923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 27929918 27930053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 27961802 28034777 Deletion Prostate cancer aCGH 22341455 MKX chr10 27985185 27985235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MKX chr10 27985385 27985485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MKX chr10 28001810 28074784 Gain and loss Pancreatic cancer SNP array 17952125 MKX chr10 28001812 28074753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKX chr10 28001812 28074753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKX chr10 28035974 28036208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 28046817 30892340 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARMC4,BAMBI,KIAA1462,LOC100507605,LOC220906,LOC387647,LYZL1,MAP3K8,MIR5586,MIR604,MIR938,MPP7,MTPAP,SVIL,WAC chr10 28052467 28052567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 28059087 28059174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 28071501 28075500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 28081478 28081624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 28094019 28094119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 28101096 28287976 Deletion Prostate cancer aCGH 22341455 ARMC4 chr10 28112852 28112963 Gain and loss Pancreatic cancer SNP array 17952125 ARMC4 chr10 28112852 28112963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC4 chr10 28116891 28116941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARMC4 chr10 28141102 28327983 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ARMC4 chr10 28141103 28324116 Gain and loss Pancreatic cancer SNP array 17952125 ARMC4 chr10 28141103 28327983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARMC4 chr10 28141103 28327983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC4 chr10 28152782 28153097 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARMC4 chr10 28224647 28224747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARMC4 chr10 28233144 28234097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC4 chr10 28269163 28269220 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ARMC4 chr10 28300000 31400000 Amplification Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 BAMBI,KIAA1462,LOC100507605,LOC220906,LOC387647,LYZL1,LYZL2,MAP3K8,MIR5586,MIR604,MIR938,MPP7,MTPAP,SVIL,WAC,ZNF438 chr10 28300000 31400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BAMBI,KIAA1462,LOC100507605,LOC220906,LOC387647,LYZL1,LYZL2,MAP3K8,MIR5586,MIR604,MIR938,MPP7,MTPAP,SVIL,WAC,ZNF438 chr10 28300000 31400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BAMBI,KIAA1462,LOC100507605,LOC220906,LOC387647,LYZL1,LYZL2,MAP3K8,MIR5586,MIR604,MIR938,MPP7,MTPAP,SVIL,WAC,ZNF438 chr10 2830047 2855170 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 28315724 28315778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 28333637 28333867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28339921 28571066 Deletion Prostate cancer aCGH 22341455 MPP7 chr10 28349992 28350092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPP7 chr10 28379928 28611073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPP7 chr10 28379928 28611073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPP7 chr10 28381799 28381967 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MPP7 chr10 28382998 28611073 Gain and loss Pancreatic cancer SNP array 17952125 MPP7 chr10 28451970 28452069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPP7 chr10 28472512 28472764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MPP7 chr10 284953 135211857 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf108,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CALY,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DIP2C,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,KNDC1,LARP4B,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC399829,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR202,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR5699,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTG1,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBAL3,TUBGCP2,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,UTF1,VAX1,VCL,VDAC2,VENTX,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 28498887 29035052 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-652K arrays 21546498 BAMBI,LOC220906,MIR5586,MPP7,WAC chr10 28529082 28554074 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MPP7 chr10 28543279 28551813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MPP7 chr10 28581402 28604933 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 28592174 28614630 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 28595521 28603210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 28639012 28639072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 28639788 28639894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28667489 28669877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28681233 28985796 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-653K arrays 21546498 BAMBI,LOC220906,MIR5586,WAC chr10 28688801 28692900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 28703488 28705670 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 28703806 28705270 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 28703809 28705070 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 28736974 28737186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 28736974 28737186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28736975 28737186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28765136 28766013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28765191 28766016 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 28771510 28771827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28771523 28771831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 28771523 28771831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28821426 28909924 Deletion Prostate cancer aCGH 22341455 MIR5586,WAC chr10 28861706 28949464 Gain and loss Pancreatic cancer SNP array 17952125 WAC chr10 28861706 28949703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WAC chr10 28861706 28949703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WAC chr10 288685 288938 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZMYND11 chr10 28966423 28971867 Deletion Prostate cancer aCGH 22341455 BAMBI chr10 28981565 28981691 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 28981565 28981691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28987922 28988402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 28992691 28992781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 28996854 28996960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 28996854 28996960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29006430 29011874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29006430 29011874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29006459 29011702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 29034793 29034852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 29089634 29089738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29089637 29089738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 29089638 29089738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 29102529 29102720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 29105286 29105505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 29150853 29151182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 29175343 29210833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29176056 29176160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 29176525 29176629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 29200842 29221580 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 29203327 29203425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 29203328 29203442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29203335 29203447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 29227931 29228419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29227937 29228422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 29295237 29609361 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LYZL1 chr10 29353844 29353901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 2936305 2936377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 2941015 2941115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 29498576 29498766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 29577989 29600157 Deletion Prostate cancer aCGH 22341455 LYZL1 chr10 29600000 31300000 Deletion Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 KIAA1462,LOC387647,LYZL1,LYZL2,MAP3K8,MIR604,MIR938,MTPAP,SVIL,ZNF438 chr10 29600000 38000000 Dul Bethlem myopathy Agilent Oligonucleotide Array-Based CGH for Genomic DNA Analysis protocol v5.0 20302629 ANKRD30A,ARHGAP12,C10orf68,CCDC7,CCNY,CREM,CUL2,EPC1,FZD8,GJD4,ITGB1,KIAA1462,KIF5B,LOC100505583,LOC387647,LYZL1,LYZL2,MAP3K8,MIR4683,MIR604,MIR938,MTPAP,MTRNR2L7,NRP1,PARD3,SVIL,ZEB1,ZEB1-AS1,ZNF438 chr10 29600000 40200000 Gain Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 ACTR3BP5,ANKRD30A,ARHGAP12,C10orf68,CCDC7,CCNY,CREM,CUL2,EPC1,FZD8,GJD4,HSD17B7P2,ITGB1,KIAA1462,KIF5B,LOC100129055,LOC100419868,LOC100505583,LOC387647,LOC399744,LYZL1,LYZL2,MAP3K8,MIR4683,MIR604,MIR938,MTPAP,MTRNR2L7,NRP1,PARD3,SEPT7L,SVIL,ZEB1,ZEB1-AS1,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 29617996 29640163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29617996 29640163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29618030 29640160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 2968213 2968633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 29746276 30024729 Deletion Prostate cancer aCGH 22341455 MIR604,MIR938,SVIL chr10 29750101 29754600 Deletion Glioma mate-paired sequence 20126413 SVIL chr10 29752152 29752726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SVIL chr10 29781551 29783002 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SVIL chr10 29782250 29782972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SVIL chr10 29782353 29782968 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SVIL chr10 29783598 29783972 Gain and loss Pancreatic cancer SNP array 17952125 SVIL chr10 29786283 30064736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR604,MIR938,SVIL chr10 29786283 30064736 Gain and loss Pancreatic cancer SNP array 17952125 MIR604,MIR938,SVIL chr10 29786283 30064736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR604,MIR938,SVIL chr10 29797825 29808505 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SVIL chr10 29810091 29831993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SVIL chr10 29823829 29857238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR604,SVIL chr10 29840000 33170000 Deletion Sezary syndrome Array-based CGH 18413736 ARHGAP12,C10orf68,CCDC7,EPC1,KIAA1462,KIF5B,LYZL2,MAP3K8,MIR938,MTPAP,SVIL,ZEB1,ZEB1-AS1,ZNF438 chr10 29873939 29874032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVIL chr10 29904241 29904316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVIL chr10 2990878 2996081 Gain Normal 244K array 17666407 NOT_FOUND chr10 2992118 2992193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 29923216 29923271 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SVIL chr10 29931199 29931281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVIL chr10 29958528 29958997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SVIL chr10 3000000 17300000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ACBD7,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,BEND7,C10orf111,C10orf47,C1QL3,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,ECHDC3,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,HSPA14,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIN,KLF6,LOC100192204,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC283070,LOC338588,LOC399715,LOC439949,LOC439950,MCM10,MEIG1,MIR1265,MIR3155A,MIR3155B,MIR4480,NET1,NMT2,NUDT5,OLAH,OPTN,PFKFB3,PFKP,PHYH,PITRM1,PRKCQ,PRPF18,PTER,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SUV39H2,TAF3,TAKR,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM chr10 30026870 30027109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30026918 30027109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30040835 30040943 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30040843 30040943 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30040850 30040943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30081112 30576578 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KIAA1462 chr10 3017807 3039561 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr10 30219967 30220402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30261823 30261923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3027746 3030373 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr10 30301728 30348487 Deletion Prostate cancer aCGH 22341455 KIAA1462 chr10 30341735 30388459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1462 chr10 30346194 30444428 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1462 chr10 30485434 30530328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 30497532 30497632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 30547596 30547696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 30566599 30583307 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 30574079 30574798 Loss Normal 244K array 17666407 NOT_FOUND chr10 30598729 30638266 Deletion Prostate cancer aCGH 22341455 MTPAP chr10 30599902 30600002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTPAP chr10 30628504 30628608 Gain and loss Pancreatic cancer SNP array 17952125 MTPAP chr10 30628504 30628608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTPAP chr10 30628505 30628608 Gain and loss Pancreatic cancer SNP array 17952125 MTPAP chr10 30630758 30631007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTPAP chr10 30641765 30678254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30641765 30694268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30641765 30694268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30650214 30650315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30650215 30650298 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30682641 30686300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30693268 30700842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30693390 30700842 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30694002 30694083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30695018 30695178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30695018 30695178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30709109 30709997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30712335 30712557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30722865 30750760 Deletion Prostate cancer aCGH 22341455 MAP3K8 chr10 30732132 30732711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K8 chr10 30756403 30836053 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 30762871 30790767 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr10 30762871 30790767 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 30762871 30790767 Gain or loss Cancer - 20668451 NOT_FOUND chr10 30762871 30790767 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 30762871 30790767 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 30762871 30790767 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 30762871 30790767 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 30762872 30790767 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30762872 30790768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30762872 30790768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30780612 30780712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3080737 3080810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 30846551 30847796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 3085680 3085967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 3085698 3085967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 30884536 30884834 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30884536 30884834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30884538 30884839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 3093270 3093648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 30940721 30958697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30940721 30958697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 30940724 30958663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 30977631 30977713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3099712 3168984 Gain and loss Pancreatic cancer SNP array 17952125 PFKP chr10 3099740 3169762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PFKP chr10 3099740 3169762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFKP chr10 31000501 31046201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 31001063 31001236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 31032482 31046204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 31048147 31048247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 31133562 31320865 Deletion Prostate cancer aCGH 22341455 ZNF438 chr10 3113861 3204971 Loss Autism Exome sequencing and CGH 22495309 LOC100507034,PFKP,PITRM1 chr10 311432 725518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf108,DIP2C,MIR5699 chr10 311432 725518 Gain and loss Pancreatic cancer SNP array 17952125 C10orf108,DIP2C,MIR5699 chr10 311432 725518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf108,DIP2C,MIR5699 chr10 31173569 31360860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF438 chr10 31173569 31360860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF438 chr10 31173573 31360860 Gain and loss Pancreatic cancer SNP array 17952125 ZNF438 chr10 31185281 32025410 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ZEB1,ZEB1-AS1,ZNF438 chr10 31247947 31250170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF438 chr10 31265322 31293711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF438 chr10 31284801 31293700 Deletion Glioma mate-paired sequence 20126413 ZNF438 chr10 31285205 31291846 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNF438 chr10 31286505 31291815 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ZNF438 chr10 31286703 31291731 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF438 chr10 31286753 31291767 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF438 chr10 31286753 31291776 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF438 chr10 31291328 31291773 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF438 chr10 31347009 31352086 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 31354475 33104406 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP12,C10orf68,CCDC7,EPC1,KIF5B,ZEB1,ZEB1-AS1 chr10 3138389 3138583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PFKP chr10 31400000 34500000 Amplification Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 ARHGAP12,C10orf68,CCDC7,EPC1,ITGB1,KIF5B,LOC100505583,NRP1,PARD3,ZEB1,ZEB1-AS1 chr10 31400000 34500000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ARHGAP12,C10orf68,CCDC7,EPC1,ITGB1,KIF5B,LOC100505583,NRP1,PARD3,ZEB1,ZEB1-AS1 chr10 31400000 34500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP12,C10orf68,CCDC7,EPC1,ITGB1,KIF5B,LOC100505583,NRP1,PARD3,ZEB1,ZEB1-AS1 chr10 31400000 34500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ARHGAP12,C10orf68,CCDC7,EPC1,ITGB1,KIF5B,LOC100505583,NRP1,PARD3,ZEB1,ZEB1-AS1 chr10 31400000 34500000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ARHGAP12,C10orf68,CCDC7,EPC1,ITGB1,KIF5B,LOC100505583,NRP1,PARD3,ZEB1,ZEB1-AS1 chr10 31400000 38800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ANKRD30A,ARHGAP12,C10orf68,CCDC7,CCNY,CREM,CUL2,EPC1,FZD8,GJD4,HSD17B7P2,ITGB1,KIF5B,LOC100129055,LOC100419868,LOC100505583,LOC399744,MIR4683,MTRNR2L7,NRP1,PARD3,SEPT7L,ZEB1,ZEB1-AS1,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 31481301 31486700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 31483357 31484870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 31483544 31485487 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 31489830 31489930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 31588534 31588623 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 31588534 31588623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 31603297 31603397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 31608100 31818741 Deletion Prostate cancer aCGH 22341455 ZEB1 chr10 31611936 31627351 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZEB1 chr10 31647327 31647371 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 ZEB1 chr10 31647430 31858133 Gain and loss Pancreatic cancer SNP array 17952125 ZEB1 chr10 31647912 31790041 Gain Autism 1M Ailent CGH whole-genome array 21865298 ZEB1 chr10 31648148 31856740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZEB1 chr10 31648148 31856740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZEB1 chr10 31689890 31690150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZEB1 chr10 31691734 31692759 Gain and loss Pancreatic cancer SNP array 17952125 ZEB1 chr10 31691734 31692759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZEB1 chr10 3169189 3180797 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 PFKP,PITRM1 chr10 3169922 3205003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507034,PFKP,PITRM1 chr10 3169922 3205003 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507034,PFKP,PITRM1 chr10 3169922 3205003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507034,PFKP,PITRM1 chr10 31740631 31740686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZEB1 chr10 317949 318061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 317955 318065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 31796001 31797500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZEB1 chr10 317976 318065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 31886804 31886904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 31957474 31957533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 31962282 31962381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3198223 3292032 Gain Normal 244K array 17666407 PITRM1 chr10 32070766 32070866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 32084976 32085070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32084978 32085070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 32084979 32085070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 32095224 32217769 Deletion Prostate cancer aCGH 22341455 ARHGAP12 chr10 32134371 32257776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP12 chr10 32134371 32257776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP12 chr10 32134372 32257776 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP12 chr10 32201492 32615450 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP12,EPC1,KIF5B chr10 32242077 32242688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32265946 32310924 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF5B chr10 32288497 32300768 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KIF5B chr10 32295801 32302700 Deletion Glioma mate-paired sequence 20126413 KIF5B chr10 32297887 32300618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF5B chr10 32297937 32345370 Deletion Prostate cancer aCGH 22341455 KIF5B chr10 32311160 32312621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF5B chr10 32311203 32311273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF5B chr10 32312819 32313488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF5B chr10 32321022 32321301 Gain and loss Pancreatic cancer SNP array 17952125 KIF5B chr10 32321022 32321301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF5B chr10 32321024 32321315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF5B chr10 32331570 32331809 Gain and loss Pancreatic cancer SNP array 17952125 KIF5B chr10 32340077 32385221 Gain and loss Pancreatic cancer SNP array 17952125 KIF5B chr10 32340077 32385334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF5B chr10 32340077 32385334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF5B chr10 32385680 32385771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 32385680 32385773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32386551 35855028 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C10orf68,CCDC7,CCNY,CREM,CUL2,EPC1,ITGB1,LOC100505583,NRP1,PARD3 chr10 32396599 32396665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 32402397 32402497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 32431456 32432227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32438795 32440600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32438795 32440600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32440578 32440723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 3248114 3248188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 32502617 32502678 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 32509388 32543048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 32517254 32517745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32517260 32517682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 32541654 33696926 LOH Normal High-resolution SNP genotyping 21211785 C10orf68,CCDC7,EPC1,ITGB1,NRP1 chr10 32557858 32636112 Deletion Prostate cancer aCGH 22341455 EPC1 chr10 32560389 32560489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPC1 chr10 32560783 32561179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPC1 chr10 32592195 32593656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPC1 chr10 32596685 32707732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPC1 chr10 32596685 32707732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPC1 chr10 32596694 32676152 Gain and loss Pancreatic cancer SNP array 17952125 EPC1 chr10 3262913 3263138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 32630720 32630815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPC1 chr10 32646963 32666463 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr10 32671287 38242683 Substitutions and indels small cell lung cancer array-CGH 20016488 ANKRD30A,C10orf68,CCDC7,CCNY,CREM,CUL2,FZD8,GJD4,ITGB1,LOC100419868,LOC100505583,MIR4683,MTRNR2L7,NRP1,PARD3,ZNF248,ZNF25 chr10 32675798 32675880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32723492 32723599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 32723494 32723599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 32723515 32723599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 32739233 32739632 Gain and loss Pancreatic cancer SNP array 17952125 CCDC7 chr10 32739233 32739632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC7 chr10 32745733 32746070 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC7 chr10 32775047 32903498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf68,CCDC7 chr10 32775047 32903498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf68,CCDC7 chr10 32775074 33211797 Gain and loss Pancreatic cancer SNP array 17952125 C10orf68,CCDC7,ITGB1 chr10 32812291 32825693 Gain and loss Pancreatic cancer SNP array 17952125 CCDC7 chr10 32830145 32830339 Gain and loss Pancreatic cancer SNP array 17952125 CCDC7 chr10 32840249 32840671 Gain and loss Pancreatic cancer SNP array 17952125 CCDC7 chr10 32840249 32840671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC7 chr10 32888964 32891590 Gain and loss Pancreatic cancer SNP array 17952125 C10orf68 chr10 32896657 33211797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf68,ITGB1 chr10 32896657 33211797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf68,ITGB1 chr10 32899498 33000799 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C10orf68 chr10 32925121 32925161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf68 chr10 32953922 32954022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf68 chr10 32967767 32968101 Gain and loss Pancreatic cancer SNP array 17952125 C10orf68 chr10 32994098 32994237 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 C10orf68 chr10 33052190 33052290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf68 chr10 33116501 33118000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf68 chr10 33137537 33137595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C10orf68 chr10 33166821 33166866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf68 chr10 33183691 33216129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITGB1 chr10 33229251 33287299 Gain or loss Breast cancer - 20668451 ITGB1 chr10 33229251 33287299 Gain or loss Cancer - 20668451 ITGB1 chr10 33229251 33287299 Gain or loss Lung cancer - 20668451 ITGB1 chr10 33229251 33287299 Gain or loss Ovarian cancer - 20668451 ITGB1 chr10 33229251 33287299 Gain or loss Pancreas cancer - 20668451 ITGB1 chr10 33229251 33287299 Gain or loss Prostate cancer - 20668451 ITGB1 chr10 33229325 33230534 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ITGB1 chr10 33229326 33287204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGB1 chr10 33229326 33287204 Gain and loss Pancreatic cancer SNP array 17952125 ITGB1 chr10 33229326 33287204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGB1 chr10 33247631 33247726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33253686 33654727 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NRP1 chr10 33253686 35384975 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CUL2,LOC100505583,NRP1,PARD3 chr10 33273415 33273933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 33287661 33287754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33352302 33352581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 33364403 33364598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 33372796 135315306 Loss Prostate cancer Array CGH 18632612 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CCNY,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,FZD8,GBF1,GDF10,GDF2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100129055,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100419868,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399744,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MTRNR2L7,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SEPT7L,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 33376783 33376882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33386549 33387341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 33386564 33387349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 33418199 33419172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 3346573 3346714 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 33476692 33662473 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NRP1 chr10 33506426 33665196 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NRP1 chr10 33506426 33665196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRP1 chr10 33506426 33665196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRP1 chr10 33506440 33663476 Gain and loss Pancreatic cancer SNP array 17952125 NRP1 chr10 33532647 33532935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRP1 chr10 33543250 33575228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRP1 chr10 33571529 33602116 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRP1 chr10 33617238 33617535 Gain and loss Pancreatic cancer SNP array 17952125 NRP1 chr10 33617238 33617535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRP1 chr10 33617241 33617535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRP1 chr10 33681797 33681872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33696605 33696750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33724228 33724328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33760465 33760553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33901844 33901944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33903012 33903112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33937057 33937157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 33965042 35384975 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CUL2,LOC100505583,PARD3 chr10 34039155 34039235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 34057773 34057864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100505583 chr10 34076618 34076713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 34093074 34093169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 34110000 35980000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 CCNY,CREM,CUL2,FZD8,GJD4,MIR4683,PARD3 chr10 34175573 34688742 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PARD3 chr10 3418575 3438792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 34187968 34188053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 34193247 34193657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 34236112 34236212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 34304878 34304953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 34368907 34369002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 34373277 34942339 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PARD3 chr10 34398487 35104252 Deletion Prostate cancer aCGH 22341455 PARD3 chr10 34400000 38000000 Amplification Hepatocellular carcinoma FISH 16785998 ANKRD30A,CCNY,CREM,CUL2,FZD8,GJD4,MIR4683,MTRNR2L7,PARD3 chr10 34402278 34435514 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PARD3 chr10 34415370 34415470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3 chr10 34415758 34415858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3 chr10 34438495 35144140 Gain and loss Pancreatic cancer SNP array 17952125 PARD3 chr10 34438495 35144255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARD3 chr10 34438495 35144255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3 chr10 34440102 35143929 Deletion Cancer Array hybridization,GeneChip Human Mapping 250K,Affymetrix GeneChip Human Mapping 500k,Agilent Human 105K,PCR-based exon re-sequencing and RT-PCR,Fluorescence In Situ Hybridization (FISH) 20215515 PARD3 chr10 34494888 34494988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3 chr10 34500000 38800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD30A,CCNY,CREM,CUL2,FZD8,GJD4,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MIR4683,MTRNR2L7,PARD3,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 34500000 38800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD30A,CCNY,CREM,CUL2,FZD8,GJD4,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MIR4683,MTRNR2L7,PARD3,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 34500000 38800000 Gain Barrett's adenocarcinoma FISH 18663352 ANKRD30A,CCNY,CREM,CUL2,FZD8,GJD4,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MIR4683,MTRNR2L7,PARD3,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 34500000 38800000 Loss Normal Human genome CGH 55k ARRAY PLATFORM 22144094 ANKRD30A,CCNY,CREM,CUL2,FZD8,GJD4,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MIR4683,MTRNR2L7,PARD3,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 34500000 40300000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ACTR3BP5,ANKRD30A,CCNY,CREM,CUL2,FZD8,GJD4,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MIR4683,MTRNR2L7,PARD3,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 34530913 34531008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3 chr10 34530915 34531008 Gain and loss Pancreatic cancer SNP array 17952125 PARD3 chr10 34530917 34531008 Gain and loss Pancreatic cancer SNP array 17952125 PARD3 chr10 34624606 34624706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3 chr10 34631422 34631489 Gain and loss Pancreatic cancer SNP array 17952125 PARD3 chr10 34631422 34631489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3 chr10 34641209 34641309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3 chr10 34670419 34670509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3 chr10 34671589 34671689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3 chr10 34724475 34724799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PARD3 chr10 34741030 36049449 LOH Normal High-resolution SNP genotyping 21211785 CCNY,CREM,CUL2,FZD8,GJD4,MIR4683,PARD3 chr10 34817517 34817812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3 chr10 34939414 34957425 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PARD3 chr10 3496070 5308412 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,KLF6,LOC100216001,LOC338588,TAKR chr10 34992793 34993035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3 chr10 35004569 35004975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3 chr10 35046074 35120667 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 PARD3 chr10 35142511 35142569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 35204144 35204356 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 35204144 35204356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35217211 35217311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 35255709 35255792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 35255709 35255816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 35255709 35255816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35271903 35272007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35271904 35271982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 35271904 35271982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35293814 35326181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CUL2 chr10 35294000 35295193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35294003 35295193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 35298797 35379293 Deletion Prostate cancer aCGH 22341455 CUL2 chr10 35337485 35419576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREM,CUL2 chr10 35337485 35419576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREM,CUL2 chr10 35338814 35419576 Gain and loss Pancreatic cancer SNP array 17952125 CREM,CUL2 chr10 35372627 36481892 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCNY,CREM,CUL2,FZD8,GJD4,MIR4683 chr10 35415800 35501885 Deletion Prostate cancer aCGH 22341455 CREM chr10 35455807 35541892 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNY,CREM chr10 35455807 35541892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNY,CREM chr10 35456394 35541891 Gain and loss Pancreatic cancer SNP array 17952125 CCNY,CREM chr10 35464376 35464436 Gain and loss Pancreatic cancer SNP array 17952125 CREM chr10 35487240 35487574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREM chr10 35508173 35509546 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 35535952 35860847 Deletion Prostate cancer aCGH 22341455 CCNY chr10 35560265 35560328 Gain and loss Pancreatic cancer SNP array 17952125 CCNY chr10 35560265 35560328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNY chr10 35570653 35574104 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CCNY chr10 35575959 35900858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNY,GJD4 chr10 35575959 35900858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNY,GJD4 chr10 35579893 35579986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNY chr10 35579893 35580002 Gain and loss Pancreatic cancer SNP array 17952125 CCNY chr10 35579894 35579970 Gain and loss Pancreatic cancer SNP array 17952125 CCNY chr10 35613763 35658796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCNY chr10 35633213 35633542 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCNY chr10 3564226 3565396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 35656958 37728552 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD30A,CCNY,FZD8,GJD4,MIR4683 chr10 35657327 35657427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCNY chr10 35665961 35900726 Gain and loss Pancreatic cancer SNP array 17952125 CCNY,GJD4 chr10 35671306 35864198 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CCNY chr10 35679266 35679360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCNY chr10 35681577 36481892 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCNY,FZD8,GJD4,MIR4683 chr10 3568909 3569009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3569017 3569117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3569033 3569190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 35758300 35758384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCNY chr10 357955 39387588 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,C10orf108,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CUBN,CUL2,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283070,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC731789,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR4683,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZNF248,ZNF25,ZNF33A,ZNF37A,ZNF438 chr10 35839206 35839291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCNY chr10 35855028 36249814 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CCNY,FZD8,GJD4,MIR4683 chr10 35863466 35863566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 35894337 35897862 Deletion Prostate cancer aCGH 22341455 GJD4 chr10 35897072 35923172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GJD4 chr10 359121 359416 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DIP2C chr10 35927176 35930361 Deletion Prostate cancer aCGH 22341455 FZD8,MIR4683 chr10 35934343 35937869 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 35934344 35937869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35934344 35937869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 35934344 35937869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35936460 35937086 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 35936460 35937086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35967182 35970368 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 35967182 35970368 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 35967182 35970368 Gain or loss Cancer - 20668451 NOT_FOUND chr10 35967182 35970368 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 35967182 35970368 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 35967182 35970368 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 35967182 35970368 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 35967183 35970368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35967183 35970368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 35968279 35970363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 35994875 35995035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 35995059 35995159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 35995061 35995287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36026234 36026971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 36028868 36028968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3607230 9585338 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,CALML3,CALML5,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LOC100216001,LOC100507127,LOC338588,LOC399715,LOC439949,MIR3155A,MIR3155B,NET1,PFKFB3,PRKCQ,RBM17,SFMBT2,TAF3,TAKR,TUBAL3,UCN3 chr10 36084304 36129124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 36181998 36182098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36249814 36898391 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr10 36259668 36261072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 36259824 36260926 Loss Normal 244K array 17666407 NOT_FOUND chr10 36286382 36288172 Loss Normal 244K array 17666407 NOT_FOUND chr10 36354491 36929396 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 36379031 37813659 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ANKRD30A chr10 36431475 36434941 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 36451874 36452192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 36467332 36467432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36481666 36481738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 36498857 36498957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36524287 36524386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36578028 36578128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36593422 36593635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36593565 36593631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36593625 36593864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36610099 37347820 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 36610099 37650938 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD30A chr10 36697935 36698035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36761816 36763418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 36763419 36763489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 36763419 36763489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 36763490 36763548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 36763490 36763548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 36763550 36763617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 36763550 36763617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 36763644 36764108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 36767595 36767722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 36767595 36767723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 36774778 36803409 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 36788482 37853779 LOH Normal High-resolution SNP genotyping 21211785 ANKRD30A chr10 36794603 36801431 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 36837242 36837337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3684262 3684294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36851750 36853171 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 36908793 36908893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 36954949 36955072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 36954951 36955072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 36957409 36957493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3695868 3695961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 36983732 37133784 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 NOT_FOUND chr10 37025904 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,ANKRD30A,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37071552 37071612 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 37086264 37086329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 37157289 37165659 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 37176513 37283302 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 37222100 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,ANKRD30A,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37224370 37224465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 37273045 37273672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 37274725 37319882 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 37323957 37324519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 37324701 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,ANKRD30A,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37325769 37665705 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD30A chr10 37325769 37665705 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD30A chr10 37381982 37416509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30A chr10 37382088 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,ANKRD30A,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37401209 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,ANKRD30A,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37403212 37434319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30A chr10 3742278 3742378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 37424381 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,ANKRD30A,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37425746 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,ANKRD30A,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37454791 37561501 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD30A chr10 37454791 37561501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30A chr10 37454791 37561501 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30A chr10 37454791 37561501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30A chr10 37464171 37464277 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30A chr10 37464171 37464277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30A chr10 37475290 37508431 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ANKRD30A chr10 37485138 37507450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30A chr10 37488886 37491914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30A chr10 37493232 37502106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30A chr10 37495260 37522560 Gain Non-syndromic sensorineural hearing loss BAC end sequencing 19587683 ANKRD30A chr10 37500189 37506484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30A chr10 37507328 37507414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30A chr10 37512168 37522982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30A chr10 37512470 37528809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30A chr10 37523207 37536450 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr10 37530887 37530974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 37546593 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37546704 37549806 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 37554667 37710375 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr10 37561205 37573675 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr10 37562185 37596620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 37563727 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37575167 38167346 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC100419868,MTRNR2L7,ZNF248 chr10 37577052 37644735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 37594000 38717000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 HSD17B7P2,LOC100129055,LOC100419868,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37626374 37626623 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 37626374 37626623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 37631665 37631765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 37631935 37632035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 37631936 37632042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 37666349 37667805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 37668710 37668810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 37677550 37678506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 3776518 3781385 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr10 37771922 37809110 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 37816713 37816791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 37851945 37873635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 37856570 37863513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 3787939 3788026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 37880491 39194226 LOH Normal High-resolution SNP genotyping 21211785 ACTR3BP5,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 37929730 37930302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 37930306 37930378 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 37930306 37930378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 3797683 3797757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 37989710 38035276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 38000000 40200000 Deletion Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ACTR3BP5,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 38000000 40200000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 ACTR3BP5,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 38000000 42300000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACTR3BP5,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 38000000 42300000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACTR3BP5,HSD17B7P2,LOC100129055,LOC100419868,LOC399744,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A chr10 3800000 12200000 Copy number Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,C10orf47,CALML3,CALML5,CELF2,DHTKD1,ECHDC3,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LOC100216001,LOC100507127,LOC219731,LOC254312,LOC338588,LOC399715,LOC439949,LOC439950,MIR3155A,MIR3155B,NET1,PFKFB3,PRKCQ,RBM17,SEC61A2,SFMBT2,SFTA1P,TAF3,TAKR,TUBAL3,UCN3,UPF2,USP6NL chr10 3800000 6700000 Amplification Urothelial cell carcinoma FISH 18451213 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,CALML3,CALML5,FAM208B,FBXO18,GDI2,IL15RA,IL2RA,KLF6,LOC100216001,LOC338588,LOC399715,LOC439949,MIR3155A,MIR3155B,NET1,PFKFB3,PRKCQ,RBM17,TAKR,TUBAL3,UCN3 chr10 3800000 6700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,CALML3,CALML5,FAM208B,FBXO18,GDI2,IL15RA,IL2RA,KLF6,LOC100216001,LOC338588,LOC399715,LOC439949,MIR3155A,MIR3155B,NET1,PFKFB3,PRKCQ,RBM17,TAKR,TUBAL3,UCN3 chr10 3800000 6700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,CALML3,CALML5,FAM208B,FBXO18,GDI2,IL15RA,IL2RA,KLF6,LOC100216001,LOC338588,LOC399715,LOC439949,MIR3155A,MIR3155B,NET1,PFKFB3,PRKCQ,RBM17,TAKR,TUBAL3,UCN3 chr10 3800000 6700000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,CALML3,CALML5,FAM208B,FBXO18,GDI2,IL15RA,IL2RA,KLF6,LOC100216001,LOC338588,LOC399715,LOC439949,MIR3155A,MIR3155B,NET1,PFKFB3,PRKCQ,RBM17,TAKR,TUBAL3,UCN3 chr10 3800000 6700000 Loss Myxofibrosarcoma Array CGH 16751306 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,CALML3,CALML5,FAM208B,FBXO18,GDI2,IL15RA,IL2RA,KLF6,LOC100216001,LOC338588,LOC399715,LOC439949,MIR3155A,MIR3155B,NET1,PFKFB3,PRKCQ,RBM17,TAKR,TUBAL3,UCN3 chr10 38007001 38017000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38029501 38034500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38034501 38040000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38040001 38042500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38042501 38056500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38056501 38058000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38102381 38102436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF248 chr10 3811238 3817455 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 3811238 3817455 Gain or loss Cancer - 20668451 NOT_FOUND chr10 3811238 3817455 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 3811238 3817455 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 3811238 3817455 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 3811238 3817455 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 3811241 3817455 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 3811260 3817455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 3811260 3817455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38123210 38125043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF248 chr10 38131786 38186492 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF248 chr10 38131786 38186492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF248 chr10 38131786 38186492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF248 chr10 3813637 3819468 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KLF6 chr10 38147540 38149916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38147820 38149919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 38157905 38186492 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 38189170 38224169 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 38212528 38213043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38212538 38225180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 38223571 38225600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38234844 38234909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 38246187 38246287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF25 chr10 38248203 42626823 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTR3BP5,HSD17B7P2,LOC100129055,LOC399744,SEPT7L,ZNF25,ZNF33A,ZNF37A chr10 38278801 38305459 Gain and loss Pancreatic cancer SNP array 17952125 ZNF33A chr10 38278801 38305561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF33A chr10 38278801 38305561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF33A chr10 38311992 38312148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF33A chr10 38323797 38323907 Gain and loss Pancreatic cancer SNP array 17952125 ZNF33A chr10 38323797 38323909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF33A chr10 38339578 38393051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF33A,ZNF37A chr10 38339578 38393051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF33A,ZNF37A chr10 38339620 38396287 Gain and loss Pancreatic cancer SNP array 17952125 ZNF33A,ZNF37A chr10 38372813 38372908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 38372813 38372908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38381595 39194226 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACTR3BP5,HSD17B7P2,LOC100129055,LOC399744,SEPT7L,ZNF37A chr10 38389108 39194226 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACTR3BP5,HSD17B7P2,LOC100129055,LOC399744,SEPT7L,ZNF37A chr10 38408990 38409775 Gain and loss Pancreatic cancer SNP array 17952125 ZNF37A chr10 38408990 38409811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF37A chr10 38408990 38409811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF37A chr10 38417668 38462131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 38420698 38420985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38420698 38420985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38423281 38452282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38423281 38452282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38423285 38452268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 38490504 38490683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100129055 chr10 38515604 38515705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38579376 38579537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38579376 38579537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38579388 38579522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 38585904 38711295 Loss Normal 244K array 17666407 HSD17B7P2,SEPT7L chr10 38609883 39040360 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACTR3BP5,HSD17B7P2,LOC399744,SEPT7L chr10 38609883 39114044 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACTR3BP5,HSD17B7P2,LOC399744,SEPT7L chr10 38685294 38707438 Gain and loss Pancreatic cancer SNP array 17952125 SEPT7L chr10 38685321 38707438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPT7L chr10 38685321 38707438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT7L chr10 38711957 38728662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC399744 chr10 38711957 38728662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC399744 chr10 38712006 38728662 Gain and loss Pancreatic cancer SNP array 17952125 LOC399744 chr10 38752559 38752662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38752560 38752662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 38752560 38752662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38757079 38781086 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr10 38777208 38780939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38777208 38780939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38777501 38785000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38777521 38780648 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 38781921 38784299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38800000 40300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR3BP5 chr10 38810201 39113800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTR3BP5 chr10 38810408 38827652 Gain Normal TaqMan assays 20972442 NOT_FOUND chr10 38812501 38929000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38815211 38909744 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr10 38847750 38857455 Gain Normal TaqMan assays 20972442 NOT_FOUND chr10 3889937 3890035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 38908842 38927321 Gain Normal TaqMan assays 20972442 NOT_FOUND chr10 38908842 39194941 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACTR3BP5 chr10 38910000 43020000 Loss Breast cancer aCGH 21509527 ACTR3BP5,LOC441666,LOC84856,ZNF37BP chr10 38934547 38937892 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38934547 38937892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 38935501 38939500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 38952727 39070142 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACTR3BP5 chr10 38961358 39114044 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACTR3BP5 chr10 38969045 38971219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 39005401 39114044 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 39030043 39031362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 39030043 39031362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 39030043 39031362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 39031996 39194941 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 39069001 39074500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 39095232 39095628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 39098462 39098495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3909861 21738582 Copy number loss Normal High-resolution SNP genotyping 21211785 ACBD7,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ARL5B,ASB13,ATP5C1,BEND7,C10orf111,C10orf113,C10orf47,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,ECHDC3,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,HSPA14,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIN,LOC100128098,LOC100128511,LOC100129213,LOC100192204,LOC100216001,LOC100507127,LOC219731,LOC254312,LOC283070,LOC338588,LOC399715,LOC439949,LOC439950,MCM10,MEIG1,MIR1265,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR511-1,MIR511-2,MRC1,NEBL,NET1,NMT2,NSUN6,NUDT5,OLAH,OPTN,PFKFB3,PHYH,PLXDC2,PRKCQ,PRPF18,PTER,PTPLA,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SLC39A12,ST8SIA6,STAM,SUV39H2,TAF3,TAKR,TMEM236,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM chr10 3909861 23419591 LOH Normal High-resolution SNP genotyping 21211785 ACBD7,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ARL5B,ARMC3,ASB13,ATP5C1,BEND7,BMI1,C10orf111,C10orf113,C10orf114,C10orf47,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CUBN,DCLRE1C,DHTKD1,DNAJC1,EBLN1,ECHDC3,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,HSPA14,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIN,LOC100128098,LOC100128511,LOC100129213,LOC100130992,LOC100192204,LOC100216001,LOC100499489,LOC100507127,LOC219731,LOC254312,LOC283070,LOC338588,LOC399715,LOC439949,LOC439950,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR4480,MIR4675,MIR511-1,MIR511-2,MLLT10,MRC1,MSRB2,NEBL,NET1,NMT2,NSUN6,NUDT5,OLAH,OPTN,PFKFB3,PHYH,PIP4K2A,PLXDC2,PRKCQ,PRPF18,PTER,PTPLA,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,TAF3,TAKR,TMEM236,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM chr10 39109401 39194506 Gain Normal TaqMan assays 20972442 NOT_FOUND chr10 39113801 41745000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 39116141 39116245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 39116501 40435000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 39137918 39194226 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr10 3978010 3978110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 3992849 4030114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 40200000 135534747 Loss Glioblastoma References 16823260 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRG2B,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SPRNP1,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40200000 135534747 Loss Medulloblastoma CGH 16968546 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRG2B,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SPRNP1,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40200000 135534747 Loss Neuroblastoma Affymetrix U133 Plus 2 chip 17533364 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRG2B,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SPRNP1,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40200000 42300000 Deletion Hepatocellular carcinoma Array CGH 16750200 NOT_FOUND chr10 40200000 61200000 Gain Autism References 18414403 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BICC1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CISD1,CSGALNACT2,CSTF2T,CTSL1P2,CXCL12,DKK1,DRGX,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,IPMK,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC100506939,LOC283033,LOC338579,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC84856,LRRC18,MAPK8,MARCH8,MBL2,MIR3156-1,MIR3924,MIR4294,MIR5100,MIR605,MSMB,MTRNR2L5,NCOA4,OGDHL,OR13A1,PARG,PCDH15,PGBD3,PHYHIPL,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TFAM,TIMM23,TMEM72,TMEM72-AS1,UBE2D1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZWINT chr10 40300000 135374737 Amplification Melanoma Multiplex Ligation-Dependent Probe Amplification 21693616 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Copy number Glioma multiple ligation-dependent probe amplification 21971842 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Copy number Squamous cell cancer Array comparative genomic hybridization 21044232 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Deletion Colorectal cancer - 20709793 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Deletion Medulloblastoma SNP arrays 21979893 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Deletion Non-small cell lung cancer Array comparative genomic hybridization 21044232 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Deletion Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Gain or loss Endometrial cancer CGH 22040021 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Loss Breast cancer aCGH 21264507 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Loss Esophageal squamous carcinoma CGH 21637470 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Loss Glioblastoma multiforme aCGH 21080181 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Loss Glioblastoma multiforme conventional CGH 21080181 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Loss Liposarcoma FISH, CGH 21253554 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 135374737 Loss Oligodendroglial tumors CGH 17285580 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 40300000 42100000 Gain Schizophrenia Affymetrix 6.0 array 21399695 NOT_FOUND chr10 40300000 46100000 Duplication Mental retardation \N 21062444 ALOX5,BMS1,C10orf10,C10orf25,CSGALNACT2,CXCL12,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506835,LOC283033,LOC338579,LOC441666,LOC84856,MARCH8,MIR3156-1,MIR5100,OR13A1,RASGEF1A,RASSF4,RET,RSU1P2,TMEM72,TMEM72-AS1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 40300000 53300000 Loss Cancer array-based techniques 21183584 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CTSL1P2,CXCL12,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC283033,LOC338579,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC84856,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MIR5100,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P,ZNF488 chr10 40300000 82000000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 A1CF,ADAMTS14,ADK,ADO,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALOX5,ANAPC16,ANK3,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP22,ARID5B,ASAH2,ASAH2B,ASCC1,ATOH7,BICC1,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,C10orf10,C10orf105,C10orf107,C10orf11,C10orf128,C10orf25,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf71,CAMK2G,CCAR1,CCDC6,CDH23,CDK1,CHAT,CHCHD1,CHST3,CISD1,COL13A1,COMTD1,CSGALNACT2,CSTF2T,CTNNA3,CTSL1P2,CXCL12,DDIT4,DDX21,DDX50,DKK1,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DRGX,DUPD1,DUSP13,ECD,EGR2,EIF4EBP2,EIF5AL1,ERCC6,FAM133CP,FAM13C,FAM149B1,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FUT11,FXYD4,GDF10,GDF2,GLUD1P3,GLUD1P7,GPRIN2,H2AFY2,HERC4,HK1,HKDC1,HNRNPA3P1,HNRNPF,HNRNPH3,IPMK,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1279,LINC00619,LOC100128292,LOC100130539,LOC100132987,LOC100288974,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC219347,LOC283033,LOC283050,LOC338579,LOC399753,LOC439990,LOC441666,LOC642361,LOC643650,LOC650623,LOC728407,LOC728643,LOC728978,LOC84856,LOC84989,LRRC18,LRRC20,LRRTM3,M1,MAPK8,MARCH8,MBL1P,MBL2,MCU,MICU1,MIR1256,MIR1296,MIR3156-1,MIR3924,MIR4294,MIR4676,MIR5100,MIR548AV,MIR605,MRPS16,MSMB,MSS51,MTRNR2L5,MYOZ1,MYPN,NCOA4,NDST2,NEUROG3,NODAL,NPFFR1,NRBF2,NUDT13,OGDHL,OIT3,OR13A1,P4HA1,PALD1,PARG,PBLD,PCBD1,PCDH15,PGBD3,PHYHIPL,PLA2G12B,PLAC9,PLAU,POLR3A,PPA1,PPIF,PPP3CB,PPYR1,PRF1,PRKG1,PSAP,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,REEP3,RET,RHOBTB1,RPS24,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGMS1,SGPL1,SIRT1,SLC16A9,SLC18A3,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,SYNPO2L,SYT15,TACR2,TBATA,TET1,TFAM,TIMM23,TMEM26,TMEM72,TMEM72-AS1,TSPAN15,TTC18,TYSND1,UBE2D1,UNC5B,USP54,VCL,VDAC2,VPS26A,VSTM4,WDFY4,ZCCHC24,ZFAND4,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZWINT chr10 40300000 82000000 Loss Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 A1CF,ADAMTS14,ADK,ADO,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALOX5,ANAPC16,ANK3,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP22,ARID5B,ASAH2,ASAH2B,ASCC1,ATOH7,BICC1,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,C10orf10,C10orf105,C10orf107,C10orf11,C10orf128,C10orf25,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf71,CAMK2G,CCAR1,CCDC6,CDH23,CDK1,CHAT,CHCHD1,CHST3,CISD1,COL13A1,COMTD1,CSGALNACT2,CSTF2T,CTNNA3,CTSL1P2,CXCL12,DDIT4,DDX21,DDX50,DKK1,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DRGX,DUPD1,DUSP13,ECD,EGR2,EIF4EBP2,EIF5AL1,ERCC6,FAM133CP,FAM13C,FAM149B1,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FUT11,FXYD4,GDF10,GDF2,GLUD1P3,GLUD1P7,GPRIN2,H2AFY2,HERC4,HK1,HKDC1,HNRNPA3P1,HNRNPF,HNRNPH3,IPMK,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1279,LINC00619,LOC100128292,LOC100130539,LOC100132987,LOC100288974,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC219347,LOC283033,LOC283050,LOC338579,LOC399753,LOC439990,LOC441666,LOC642361,LOC643650,LOC650623,LOC728407,LOC728643,LOC728978,LOC84856,LOC84989,LRRC18,LRRC20,LRRTM3,M1,MAPK8,MARCH8,MBL1P,MBL2,MCU,MICU1,MIR1256,MIR1296,MIR3156-1,MIR3924,MIR4294,MIR4676,MIR5100,MIR548AV,MIR605,MRPS16,MSMB,MSS51,MTRNR2L5,MYOZ1,MYPN,NCOA4,NDST2,NEUROG3,NODAL,NPFFR1,NRBF2,NUDT13,OGDHL,OIT3,OR13A1,P4HA1,PALD1,PARG,PBLD,PCBD1,PCDH15,PGBD3,PHYHIPL,PLA2G12B,PLAC9,PLAU,POLR3A,PPA1,PPIF,PPP3CB,PPYR1,PRF1,PRKG1,PSAP,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,REEP3,RET,RHOBTB1,RPS24,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGMS1,SGPL1,SIRT1,SLC16A9,SLC18A3,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,SYNPO2L,SYT15,TACR2,TBATA,TET1,TFAM,TIMM23,TMEM26,TMEM72,TMEM72-AS1,TSPAN15,TTC18,TYSND1,UBE2D1,UNC5B,USP54,VCL,VDAC2,VPS26A,VSTM4,WDFY4,ZCCHC24,ZFAND4,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZWINT chr10 4034588 4034656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 403834 404123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIP2C chr10 40435001 41721000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 4136637 4783816 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 LOC100216001,LOC338588 chr10 4143233 4143333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 4149606 4149790 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 41674942 41742960 Gain Normal TaqMan assays 20972442 NOT_FOUND chr10 41677828 42080040 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 41677828 42095282 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 41677828 42282431 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 41677828 42282431 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 41677828 42303804 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 41677828 42570197 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 41677828 42648010 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 41677828 42708715 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 41678275 41679240 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 41690313 41699461 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 41705738 41707292 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 41713642 41715211 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr10 41721001 41730000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 41730001 41846750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 41753546 41845130 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 41753546 54809768 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-636K arrays 21546498 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CSTF2T,CTSL1P2,CXCL12,DKK1,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC100506939,LOC283033,LOC338579,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC84856,LRRC18,MAPK8,MARCH8,MBL2,MIR3156-1,MIR4294,MIR5100,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P,ZNF488 chr10 41756307 42461241 Duplication Autism Illumina HumanHap556 BeadChip 20858243 NOT_FOUND chr10 41756307 42943818 Duplication Obesity Illumina SNP array 20622171 LOC441666 chr10 41784939 41785969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 41798884 42166389 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 4181857 4181951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 41845130 42067711 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 41846751 41921500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 41916694 41928021 Gain Normal TaqMan assays 20972442 NOT_FOUND chr10 4193201 4193301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 41934430 42170853 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 41934430 42170853 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 41934430 42173117 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 41934430 42173696 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 41934430 42173696 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 41956874 46270330 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALOX5,BMS1,C10orf10,C10orf25,CSGALNACT2,CXCL12,FAM21C,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506835,LOC283033,LOC338579,LOC441666,LOC84856,MARCH8,MIR3156-1,MIR5100,OR13A1,RASGEF1A,RASSF4,RET,RSU1P2,TMEM72,TMEM72-AS1,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 41963042 44076186 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BMS1,CSGALNACT2,FXYD4,HNRNPF,LOC441666,LOC84856,MIR5100,RASGEF1A,RET,ZNF239,ZNF33B,ZNF37BP,ZNF487P chr10 41964764 41965003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 41967001 41981000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 41970000 42150000 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr10 41972779 42170853 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 41981001 41987500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 41987501 41992500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 41992501 42046500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 41993659 42045246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 41998855 42053556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 41999018 42039070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 42000947 42001270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42004899 42199692 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 42007473 42063372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 42012485 42044819 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 42021558 42036796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 42046501 42052500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 4205108 4205195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 42063805 42097579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 42066866 42097773 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr10 42067711 42188077 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 42075701 42183499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42075701 42183499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42095188 42097273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42100000 135374737 Deletion Medulloblastoma SNP arrays 21979893 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUOM,FUT11,FXYD4,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100130539,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283033,LOC283038,LOC283050,LOC338579,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC441666,LOC619207,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR3944,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5100,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTG1,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,OR13A1,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRAP1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RASGEF1A,RASSF4,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,SYT15,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1,ZWINT chr10 42100000 46100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALOX5,BMS1,C10orf10,C10orf25,CSGALNACT2,CXCL12,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506835,LOC283033,LOC338579,LOC441666,LOC84856,MARCH8,MIR3156-1,MIR5100,OR13A1,RASGEF1A,RASSF4,RET,RSU1P2,TMEM72,TMEM72-AS1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 42100000 46100000 Deletion Intellectual disability 100k SNP Array 21811512 ALOX5,BMS1,C10orf10,C10orf25,CSGALNACT2,CXCL12,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506835,LOC283033,LOC338579,LOC441666,LOC84856,MARCH8,MIR3156-1,MIR5100,OR13A1,RASGEF1A,RASSF4,RET,RSU1P2,TMEM72,TMEM72-AS1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 42100000 46100000 Deletion Schizophrenia high-density microarrays 22241247 ALOX5,BMS1,C10orf10,C10orf25,CSGALNACT2,CXCL12,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506835,LOC283033,LOC338579,LOC441666,LOC84856,MARCH8,MIR3156-1,MIR5100,OR13A1,RASGEF1A,RASSF4,RET,RSU1P2,TMEM72,TMEM72-AS1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 42100000 46100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALOX5,BMS1,C10orf10,C10orf25,CSGALNACT2,CXCL12,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506835,LOC283033,LOC338579,LOC441666,LOC84856,MARCH8,MIR3156-1,MIR5100,OR13A1,RASGEF1A,RASSF4,RET,RSU1P2,TMEM72,TMEM72-AS1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 42100000 53300000 Chromosomal rearrangement Papillary thyroid carcinoma References 21436994 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CTSL1P2,CXCL12,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC283033,LOC338579,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC84856,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MIR5100,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P,ZNF488 chr10 42100000 53300000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CTSL1P2,CXCL12,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC283033,LOC338579,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC84856,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MIR5100,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P,ZNF488 chr10 42100000 53300000 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CTSL1P2,CXCL12,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC283033,LOC338579,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC84856,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MIR5100,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P,ZNF488 chr10 42100000 64800000 Deletion or duplication Obesity References 21956041 A1CF,ADO,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANK3,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ARID5B,ASAH2,ASAH2B,BICC1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf107,C10orf128,C10orf25,C10orf40,C10orf53,C10orf71,CCDC6,CDK1,CHAT,CISD1,CSGALNACT2,CSTF2T,CTSL1P2,CXCL12,DKK1,DRGX,EGR2,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,IPMK,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC100506939,LOC283033,LOC338579,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC84856,LRRC18,M1,MAPK8,MARCH8,MBL2,MIR3156-1,MIR3924,MIR4294,MIR5100,MIR548AV,MIR605,MSMB,MTRNR2L5,NCOA4,OGDHL,OR13A1,PARG,PCDH15,PGBD3,PHYHIPL,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RHOBTB1,RSU1P2,RTKN2,SGMS1,SLC16A9,SLC18A3,SYT15,TFAM,TIMM23,TMEM26,TMEM72,TMEM72-AS1,UBE2D1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF365,ZNF37BP,ZNF485,ZNF487P,ZNF488,ZWINT chr10 42109334 42124010 Gain Normal TaqMan assays 20972442 NOT_FOUND chr10 42110501 42138500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 42113170 42113883 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 42114131 42130982 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr10 42114963 42116500 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 42119807 42120171 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 42120300 42121464 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 42125243 42126761 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 42125766 42138826 Gain Normal TaqMan assays 20972442 NOT_FOUND chr10 42129341 42129644 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 42151540 42168465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42151555 42153694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42184000 43133000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 LOC441666,LOC84856,ZNF33B,ZNF37BP chr10 42188077 42188821 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 42188821 42229617 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 42223630 42267138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42223630 42287696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42223630 42287696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42229617 42259374 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 42250231 42250612 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 4225130 4225165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 42251788 42252759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42254801 42255255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 4225920 4226051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 42263735 42264445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42285137 42760575 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 42290997 42310790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42290997 42310790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42290997 42310790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42291065 43696201 LOH Normal High-resolution SNP genotyping 21211785 BMS1,CSGALNACT2,LOC441666,LOC84856,MIR5100,RASGEF1A,RET,ZNF33B,ZNF37BP chr10 42296584 42330056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 42300000 52900000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CTSL1P2,CXCL12,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC283033,LOC338579,LOC399753,LOC441666,LOC643650,LOC728407,LOC728643,LOC84856,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MIR5100,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P,ZNF488 chr10 42305094 42315837 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42315100 46536466 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AGAP4,ALOX5,BMS1,C10orf10,C10orf25,CSGALNACT2,CXCL12,FAM21C,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506835,LOC283033,LOC338579,LOC441666,LOC84856,MARCH8,MIR3156-1,MIR5100,OR13A1,RASGEF1A,RASSF4,RET,RSU1P2,TMEM72,TMEM72-AS1,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 42335149 42336500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42382131 42382937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42382131 42382937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42389638 42453998 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 42394469 42394501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 42404561 42453998 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42404561 42454049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42404561 42454049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42420613 42420711 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42420613 42420711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42463342 43362048 LOH Normal High-resolution SNP genotyping 21211785 BMS1,LOC441666,LOC84856,ZNF33B,ZNF37BP chr10 42466798 43362048 LOH Normal High-resolution SNP genotyping 21211785 BMS1,LOC441666,LOC84856,ZNF33B,ZNF37BP chr10 42476182 42477230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42503824 42506478 Loss Normal 244K array 17666407 NOT_FOUND chr10 42509825 42530029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42524238 42760575 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 42524238 42830197 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC441666 chr10 42534711 42534756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 42568501 42571000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 42571001 42745000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 42594207 42594538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 42598265 42646855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42598265 42646855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42598265 42646855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42600836 43271395 Gain Autism qPCR, Illumina1M 20531469 LOC441666,LOC84856,ZNF33B,ZNF37BP chr10 42625683 42625784 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42625683 42625784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42635463 45510963 Substitutions and indels small cell lung cancer array-CGH 20016488 BMS1,C10orf10,C10orf25,CSGALNACT2,CXCL12,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506835,LOC283033,LOC441666,LOC84856,MIR5100,RASGEF1A,RASSF4,RET,TMEM72,TMEM72-AS1,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 42647905 42648001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42647905 42648001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42648719 42650067 Loss Normal 244K array 17666407 NOT_FOUND chr10 42676347 42724171 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr10 42716528 42720082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 42745001 42817500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 4276898 4287271 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 42773893 43406828 LOH Normal High-resolution SNP genotyping 21211785 BMS1,LOC441666,LOC84856,ZNF33B,ZNF37BP chr10 4278101 4283800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 4280001 4281500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 4280065 4281684 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 4280814 4281016 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 4280814 4284071 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 4280814 4287181 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 42809474 42809574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 4283489 4301561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 42840001 42845000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC441666 chr10 42852001 42942000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC441666 chr10 42853619 42891192 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC441666 chr10 42856532 42906275 Amplification or deletion Cancer Array CGH 17440070 LOC441666 chr10 42861880 43362048 LOH Normal High-resolution SNP genotyping 21211785 BMS1,LOC441666,LOC84856,ZNF33B,ZNF37BP chr10 42873960 42874044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 42892522 42945803 Copy number Hirschsprung's Disease MLPA 19925665 NOT_FOUND chr10 42892522 42945803 Copy number Hirschsprung's Disease multiplex ligation-dependent probe amplification 20456320 NOT_FOUND chr10 42892522 42945803 Copy number Lung cancer - 20668451 NOT_FOUND chr10 42892522 42945803 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 42892522 42945803 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 42892522 42945803 Gain or loss Cancer - 20668451 NOT_FOUND chr10 42892522 42945803 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 42892522 42945803 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 42892522 42945803 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 42892522 42945803 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 42892523 42945805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42892523 42945805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 42892533 42945105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 42910287 42910797 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 42923884 42940557 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 42924123 42939899 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 42927262 44570703 LOH Normal High-resolution SNP genotyping 21211785 BMS1,CSGALNACT2,FXYD4,HNRNPA3P1,HNRNPF,LINC00619,LOC100506835,LOC283033,LOC84856,MIR5100,RASGEF1A,RET,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF37BP,ZNF485,ZNF487P chr10 4292983 4308917 Gain Normal 244K array 17666407 NOT_FOUND chr10 42942001 42954500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 42953940 43000756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC84856 chr10 42953940 43000756 Gain and loss Pancreatic cancer SNP array 17952125 LOC84856 chr10 42953940 43000756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC84856 chr10 43008001 43012000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF37BP chr10 43009989 43082373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF37BP chr10 43009989 43082373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF37BP chr10 43009990 43082373 Gain and loss Pancreatic cancer SNP array 17952125 ZNF37BP chr10 43012001 43028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF37BP chr10 43028501 43065500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF37BP chr10 43059691 43060169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 43065501 43082000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 43071033 43174255 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ZNF33B chr10 43079939 43079987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43082001 44197500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BMS1,CSGALNACT2,FXYD4,HNRNPF,MIR5100,RASGEF1A,RET,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF485,ZNF487P chr10 43089450 43745581 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BMS1,CSGALNACT2,MIR5100,RASGEF1A,RET,ZNF33B chr10 43089450 44153900 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BMS1,CSGALNACT2,FXYD4,HNRNPF,MIR5100,RASGEF1A,RET,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33B,ZNF485,ZNF487P chr10 43157240 43157363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43157240 43157363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43157240 43157364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43187096 43191787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43187096 43191787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43189201 43191620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43199185 43199424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43199185 43199424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43201070 43224702 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 43201071 43224620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43201071 43224662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43201071 43224662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 432207 876909 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 C10orf108,DIP2C,LARP4B,MIR5699 chr10 43226405 43226505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43232703 43232885 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43232703 43232885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43232708 43232894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 4323481 4323543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43252295 43297133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMS1 chr10 43252579 43298013 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 BMS1 chr10 43256006 43284127 Gain and loss Pancreatic cancer SNP array 17952125 BMS1 chr10 43266422 43266826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43273518 43273582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43288081 55324785 Duplication Developmental delay 135K (SignatureChipOS v2.0) 21948486 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CSTF2T,CTSL1P2,CXCL12,DKK1,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC100506939,LOC283033,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MBL2,MIR3156-1,MIR4294,MIR5100,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF485,ZNF487P,ZNF488 chr10 43288081 55324785 Duplication Dysmorphic features 135K (SignatureChipOS v2.0) 21948486 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CSTF2T,CTSL1P2,CXCL12,DKK1,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC100506939,LOC283033,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MBL2,MIR3156-1,MIR4294,MIR5100,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF485,ZNF487P,ZNF488 chr10 43288081 55324785 Duplication Epilepsy 135K (SignatureChipOS v2.0) 21948486 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CSGALNACT2,CSTF2T,CTSL1P2,CXCL12,DKK1,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,FXYD4,GDF10,GDF2,GLUD1P7,GPRIN2,HNRNPA3P1,HNRNPF,LINC00619,LOC100130539,LOC100506733,LOC100506835,LOC100506939,LOC283033,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MBL2,MIR3156-1,MIR4294,MIR5100,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASGEF1A,RASSF4,RBP3,RET,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF485,ZNF487P,ZNF488 chr10 43290000 44020000 Gain Breast cancer aCGH 21509527 BMS1,CSGALNACT2,FXYD4,HNRNPF,MIR5100,RASGEF1A,RET,ZNF487P chr10 43297230 43298463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMS1 chr10 43297230 43298463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMS1 chr10 4332786 4332886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43338710 43340671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 4335832 4345637 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr10 43360168 43360236 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43366873 43366944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43371798 43390071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43371798 43390071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43371801 43390015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43420297 43421705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43421861 43433357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43421861 43433357 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43421861 43433357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43446401 43446836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43459312 43464332 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 43459314 43464332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43459314 43464332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43459317 43464309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43470905 43470975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 4347650 4347750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43480393 43480474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43480916 43481028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43486731 43487111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 43494207 43494286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43524482 43525825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 43547788 43548038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43556891 43557804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 43602865 43605871 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 RET chr10 43603000 44182000 Loss Prostate cancer Array CGH 18632612 CSGALNACT2,FXYD4,HNRNPF,RASGEF1A,RET,ZNF239,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF485,ZNF487P chr10 43604703 43605841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RET chr10 43604703 43605841 Gain and loss Pancreatic cancer SNP array 17952125 RET chr10 43604703 43605841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RET chr10 43608249 43608349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RET chr10 43660760 43666076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSGALNACT2 chr10 43660760 43666076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSGALNACT2 chr10 436904 436936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2C chr10 43703349 43704092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RASGEF1A chr10 43833952 43834047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 43995232 43995323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 43995240 43995331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 4402236 5308412 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,LOC100216001,LOC338588,TAKR chr10 44103771 44103860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF485 chr10 44185619 44200548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44185619 44200548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 4418722 4429674 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 44192515 44200548 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 44192517 44200551 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 44197501 44202000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 44221305 44221612 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 44223745 44223845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 44230030 44230607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 44230103 44230607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44243143 44243213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 4427693 4431381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 44333773 44333873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 44383553 44383653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506835 chr10 44478172 44478521 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 44497750 44698113 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-641K arrays 21546498 NOT_FOUND chr10 44515846 44677804 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 44523027 44679489 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr10 44528031 44688038 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 44530696 44677804 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 44530696 44677804 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 44530696 44688038 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 44538398 44677804 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 44550000 44670000 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr10 44567720 44679788 Loss or gain Normal 244K array 17666407 NOT_FOUND chr10 44571927 70414285 Duplication Normal References 22138850 A1CF,ADO,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANK3,ANXA2P3,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ARID5B,ASAH2,ASAH2B,ATOH7,BICC1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf107,C10orf128,C10orf25,C10orf40,C10orf53,C10orf71,CCDC6,CDK1,CHAT,CISD1,CSTF2T,CTNNA3,CTSL1P2,CXCL12,DKK1,DNA2,DNAJC12,DRGX,EGR2,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,HERC4,HNRNPH3,IPMK,JMJD1C,LOC100130539,LOC100506733,LOC100506939,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LOC84989,LRRC18,LRRTM3,M1,MAPK8,MARCH8,MBL2,MIR1296,MIR3156-1,MIR3924,MIR4294,MIR548AV,MIR605,MSMB,MTRNR2L5,MYPN,NCOA4,NRBF2,OGDHL,OR13A1,PARG,PBLD,PCDH15,PGBD3,PHYHIPL,PPYR1,PRKG1,PTPN20A,PTPN20B,RASSF4,RBP3,REEP3,RHOBTB1,RSU1P2,RTKN2,RUFY2,SGMS1,SIRT1,SLC16A9,SLC18A3,SLC25A16,SYT15,TET1,TFAM,TIMM23,TMEM26,TMEM72,TMEM72-AS1,UBE2D1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF365,ZNF488,ZWINT chr10 44621897 44623677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44631187 44663870 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 44665001 44812500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100130539 chr10 44697846 44725538 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr10 44726815 44752456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44726815 44752456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44726967 44750588 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 44743234 44744151 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 44752855 44752918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 44775225 44810174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130539 chr10 44775225 44810174 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130539 chr10 44775225 44810174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130539 chr10 44782900 44783000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 44791583 44794264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 44791715 44794330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44791715 44794330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44809387 44816342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 44813152 44816342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44813152 44816342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44815927 44820780 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 44815928 44820779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44815928 44820779 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 44815928 44820779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44871154 44871558 Gain and loss Pancreatic cancer SNP array 17952125 CXCL12 chr10 44877235 44877335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CXCL12 chr10 44886246 44886663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44888600 44888995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44903582 44903705 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 44922064 44931555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44932418 44932509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 44942772 44964368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44966899 44967369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44972229 44992379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44972229 44992379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 44988481 53388885 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MIR605,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RASSF4,RBP3,RSU1P2,SGMS1,SLC18A3,SYT15,TIMM23,TMEM72,TMEM72-AS1,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF488 chr10 44994735 44998709 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 45004244 45004350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 45004244 45004350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45014976 45015076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 45047480 45062815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45048774 45051648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 45048825 45051684 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 45071762 45071856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 45073488 45073583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 45073639 45074577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45103429 45104540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 45118108 45123270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 45118108 45123282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45118108 45123282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45162001 45164000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 45164001 45291500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 45189634 45261569 Deletion Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 NOT_FOUND chr10 45189635 45259678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45189635 45261567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45189635 45261567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45189692 45261567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 4526340 4526440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 45272823 45410360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM72,TMEM72-AS1 chr10 45272823 45410360 Gain and loss Pancreatic cancer SNP array 17952125 TMEM72,TMEM72-AS1 chr10 45272823 45410360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM72,TMEM72-AS1 chr10 45329003 45329141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM72-AS1 chr10 45332882 45348809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM72-AS1 chr10 45341719 45544339 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C10orf10,C10orf25,RASSF4,TMEM72,TMEM72-AS1,ZNF22 chr10 45341719 45746970 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C10orf10,C10orf25,LOC338579,MIR3156-1,RASSF4,RSU1P2,TMEM72,TMEM72-AS1,ZNF22 chr10 45341719 47972148 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf25,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC338579,LOC643650,LOC728643,MARCH8,MIR3156-1,OR13A1,PPYR1,PTPN20A,PTPN20B,RASSF4,RSU1P2,SYT15,TMEM72,TMEM72-AS1,ZFAND4,ZNF22 chr10 45341719 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf25,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC338579,LOC643650,LOC728643,MARCH8,MIR3156-1,OR13A1,PPYR1,PTPN20A,PTPN20B,RASSF4,RSU1P2,SYT15,TMEM72,TMEM72-AS1,ZFAND4,ZNF22 chr10 45388976 45389076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM72-AS1 chr10 45392878 45396241 Loss Normal Birdsuite, version 1.5.2 22087296 TMEM72-AS1 chr10 45402382 45402459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM72-AS1 chr10 45406265 45406313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM72-AS1 chr10 4540880 4540930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 45411268 47172593 Gain Glioblastoma multiforme 244K oligo array 21138945 AGAP4,ALOX5,ANXA8,ANXA8L1,BMS1P1,BMS1P5,C10orf10,C10orf25,FAM21C,FAM35B,GLUD1P7,GPRIN2,LOC338579,LOC643650,LOC728643,MARCH8,MIR3156-1,OR13A1,PPYR1,PTPN20A,PTPN20B,RASSF4,RSU1P2,SYT15,TMEM72,TMEM72-AS1,ZFAND4,ZNF22 chr10 45425616 45746970 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C10orf10,C10orf25,LOC338579,MIR3156-1,RASSF4,RSU1P2,TMEM72,TMEM72-AS1,ZNF22 chr10 45425616 46063691 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALOX5,C10orf10,C10orf25,LOC338579,MARCH8,MIR3156-1,OR13A1,RASSF4,RSU1P2,TMEM72,TMEM72-AS1,ZNF22 chr10 45431044 45479179 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 C10orf10,RASSF4,TMEM72-AS1 chr10 45431044 45488257 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C10orf10,RASSF4,TMEM72-AS1 chr10 45431047 45488267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf10,RASSF4,TMEM72-AS1 chr10 45431047 45488267 Gain and loss Pancreatic cancer SNP array 17952125 C10orf10,RASSF4,TMEM72-AS1 chr10 45431047 45488267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf10,RASSF4,TMEM72-AS1 chr10 4547144 4547249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 4547144 4547249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45477903 47735672 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf25,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC338579,LOC643650,LOC728643,MARCH8,MIR3156-1,OR13A1,PPYR1,PTPN20A,PTPN20B,RASSF4,RSU1P2,SYT15,ZFAND4,ZNF22 chr10 45478103 45478147 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 RASSF4 chr10 45480000 51585000 Deletion Developmental delay 72K (NimbleGen) 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RASSF4,RBP3,RSU1P2,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF488 chr10 45480000 51585000 Deletion Intellectual disability 72K (NimbleGen) 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf25,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RASSF4,RBP3,RSU1P2,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF22,ZNF488 chr10 45489352 45507880 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 C10orf25,RASSF4,ZNF22 chr10 45489599 45520858 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C10orf25,RASSF4,ZNF22 chr10 45494146 45515986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf25,ZNF22 chr10 45503539 46503539 Deletion or amplification Glioblastoma multiforme - 21525872 AGAP4,ALOX5,FAM21C,LOC338579,MARCH8,MIR3156-1,OR13A1,RSU1P2,ZFAND4 chr10 45512000 51585000 Deletion Developmental delay 72K (NimbleGen) 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,RSU1P2,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45512000 51585000 Deletion Intellectual disability 72K (NimbleGen) 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,RSU1P2,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45520815 47839327 Q11.22 Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC338579,LOC643650,LOC728643,MARCH8,MIR3156-1,OR13A1,PPYR1,PTPN20A,PTPN20B,RSU1P2,SYT15,ZFAND4 chr10 45521885 45537893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45525725 45554746 Loss Normal 244K array 17666407 NOT_FOUND chr10 45535839 46376307 Substitutions and indels small cell lung cancer array-CGH 20016488 AGAP4,ALOX5,FAM21C,LOC338579,MARCH8,MIR3156-1,OR13A1,RSU1P2,ZFAND4 chr10 45541148 45541492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 4554251 4554351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 45542673 45608415 Gain and loss Pancreatic cancer SNP array 17952125 RSU1P2 chr10 45542673 45608418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSU1P2 chr10 45545383 45931287 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ALOX5,LOC338579,MIR3156-1,OR13A1,RSU1P2 chr10 45554746 47944396 Loss or gain Normal 244K array 17666407 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC338579,LOC643650,LOC728643,MARCH8,MIR3156-1,OR13A1,PPYR1,PTPN20A,PTPN20B,RSU1P2,SYT15,ZFAND4 chr10 45574861 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC338579,LOC643650,LOC728643,MARCH8,MIR3156-1,OR13A1,PPYR1,PTPN20A,PTPN20B,RSU1P2,SYT15,ZFAND4 chr10 45612000 51585000 Deletion Developmental delay 72K (NimbleGen) 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,RSU1P2,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45612000 51585000 Deletion Intellectual disability 72K (NimbleGen) 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC338579,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR3156-1,MIR4294,MSMB,NCOA4,OGDHL,OR13A1,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,RSU1P2,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45613625 46839717 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGAP4,ALOX5,BMS1P1,BMS1P5,FAM21C,GLUD1P7,LOC338579,MARCH8,MIR3156-1,OR13A1,PTPN20A,PTPN20B,RSU1P2,ZFAND4 chr10 45613625 47737209 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC338579,LOC643650,LOC728643,MARCH8,MIR3156-1,OR13A1,PPYR1,PTPN20A,PTPN20B,RSU1P2,SYT15,ZFAND4 chr10 45619501 46327250 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP4,ALOX5,FAM21C,LOC338579,MARCH8,MIR3156-1,OR13A1,RSU1P2,ZFAND4 chr10 45630940 45632715 Gain and loss Pancreatic cancer SNP array 17952125 RSU1P2 chr10 45632493 46475660 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGAP4,ALOX5,FAM21C,LOC338579,MARCH8,MIR3156-1,OR13A1,RSU1P2,ZFAND4 chr10 45641056 45662927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC338579,MIR3156-1,RSU1P2 chr10 45641056 45662927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC338579,MIR3156-1,RSU1P2 chr10 45641067 45662927 Gain and loss Pancreatic cancer SNP array 17952125 LOC338579,MIR3156-1,RSU1P2 chr10 45671761 45671876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC338579 chr10 45678832 45679083 Gain and loss Pancreatic cancer SNP array 17952125 LOC338579 chr10 45678832 45679083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC338579 chr10 45682692 45683000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 45682692 45683000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45694467 45695512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 45703619 45731625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 45786551 45786634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 45896971 46174280 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALOX5,MARCH8,ZFAND4 chr10 45896971 46738511 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,ALOX5,BMS1P1,BMS1P5,FAM21C,MARCH8,PTPN20A,PTPN20B,ZFAND4 chr10 45896971 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 45896972 46325469 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 AGAP4,ALOX5,FAM21C,MARCH8,ZFAND4 chr10 45898323 46105631 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ALOX5,MARCH8 chr10 45898323 46849147 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AGAP4,ALOX5,BMS1P1,BMS1P5,FAM21C,GLUD1P7,MARCH8,PTPN20A,PTPN20B,ZFAND4 chr10 45905767 45931287 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ALOX5 chr10 45905767 46374530 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGAP4,ALOX5,FAM21C,MARCH8,ZFAND4 chr10 45927753 51581847 Deletion Developmental delay Affymetrix SNP 6.0 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45927753 51581847 Deletion Intellectual disability Affymetrix SNP 6.0 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45939122 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ALOX5,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 45947671 47011183 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP4,BMS1P1,BMS1P5,FAM21C,FAM35B,GLUD1P7,GPRIN2,MARCH8,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 45947671 51263703 Deletion Developmental delay Affymetrix SNP 6.0 21948486 AGAP4,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45947671 51263703 Deletion Intellectual disability Affymetrix SNP 6.0 21948486 AGAP4,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45947671 51492393 Duplication Developmental delay Affy SNP 6.0 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45947671 51510978 Duplication Developmental delay Affy SNP 6.0 21948486 AGAP4,AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45963851 47213510 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 45970067 46919984 Copy number loss Normal High-resolution SNP genotyping 21211785 AGAP4,BMS1P1,BMS1P5,FAM21C,FAM35B,GLUD1P7,MARCH8,PTPN20A,PTPN20B,ZFAND4 chr10 45970128 46040064 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 MARCH8 chr10 45970129 46061009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCH8 chr10 45970129 46061009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH8 chr10 45974557 45974637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH8 chr10 45979000 56907000 Deletion Developmental delay 72K (NimbleGen) 21948486 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CSTF2T,CTSL1P2,DKK1,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC100506939,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MBL2,MIR4294,MIR605,MSMB,NCOA4,OGDHL,PARG,PCDH15,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RBP3,SGMS1,SLC18A3,SYT15,TIMM23,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45979000 56907000 Deletion Intellectual disability 72K (NimbleGen) 21948486 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CSTF2T,CTSL1P2,DKK1,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC100506939,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MARCH8,MBL2,MIR4294,MIR605,MSMB,NCOA4,OGDHL,PARG,PCDH15,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RBP3,SGMS1,SLC18A3,SYT15,TIMM23,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 45993250 45993326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH8 chr10 46002351 47262482 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46002351 47801347 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46002351 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46010225 47213510 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46046581 46738511 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,BMS1P1,BMS1P5,FAM21C,MARCH8,PTPN20A,PTPN20B,ZFAND4 chr10 46046581 47262482 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46046581 47801347 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46046581 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46077145 46096538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCH8 chr10 46077145 46096538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH8 chr10 46077352 46098742 Gain and loss Pancreatic cancer SNP array 17952125 MARCH8 chr10 46080292 46080392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH8 chr10 46094174 46669581 Deletion Normal Affymetrix 6.0 microarrays 20967226 AGAP4,FAM21C,PTPN20A,PTPN20B,ZFAND4 chr10 46094174 47213510 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46100000 49900000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,MAPK8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,WDFY4,ZFAND4,ZNF488 chr10 46100000 49900000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,MAPK8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,WDFY4,ZFAND4,ZNF488 chr10 46100000 50100000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,MAPK8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,WDFY4,ZFAND4,ZNF488 chr10 46100000 50100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,MAPK8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,WDFY4,ZFAND4,ZNF488 chr10 46100000 50100000 Copy number Rett syndrome array CGH 21593744 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,MAPK8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,WDFY4,ZFAND4,ZNF488 chr10 46100000 50100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,MAPK8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,WDFY4,ZFAND4,ZNF488 chr10 46100000 50100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,MAPK8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,WDFY4,ZFAND4,ZNF488 chr10 46100000 50100000 Gain Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 129 samples 21899760 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,MAPK8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,WDFY4,ZFAND4,ZNF488 chr10 46100000 53300000 Deletion Intellectual disability - 22045946 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,MIR605,MSMB,NCOA4,OGDHL,PARG,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RBP3,SGMS1,SLC18A3,SYT15,TIMM23,VSTM4,WDFY4,ZFAND4,ZNF488 chr10 46100000 64500000 Loss Basal cell lymphoma Array CGH 16317097 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ANK3,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ARID5B,ASAH2,ASAH2B,BICC1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf107,C10orf128,C10orf40,C10orf53,C10orf71,CCDC6,CDK1,CHAT,CISD1,CSTF2T,CTSL1P2,DKK1,DRGX,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,IPMK,LOC100506733,LOC100506939,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,M1,MAPK8,MBL2,MIR3924,MIR4294,MIR548AV,MIR605,MSMB,MTRNR2L5,NCOA4,OGDHL,PARG,PCDH15,PGBD3,PHYHIPL,PPYR1,PRKG1,PTPN20A,PTPN20B,RBP3,RHOBTB1,RTKN2,SGMS1,SLC16A9,SLC18A3,SYT15,TFAM,TIMM23,TMEM26,UBE2D1,VSTM4,WDFY4,ZFAND4,ZNF365,ZNF488,ZWINT chr10 46100000 64500000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 A1CF,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ANK3,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ARID5B,ASAH2,ASAH2B,BICC1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf107,C10orf128,C10orf40,C10orf53,C10orf71,CCDC6,CDK1,CHAT,CISD1,CSTF2T,CTSL1P2,DKK1,DRGX,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,IPMK,LOC100506733,LOC100506939,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,M1,MAPK8,MBL2,MIR3924,MIR4294,MIR548AV,MIR605,MSMB,MTRNR2L5,NCOA4,OGDHL,PARG,PCDH15,PGBD3,PHYHIPL,PPYR1,PRKG1,PTPN20A,PTPN20B,RBP3,RHOBTB1,RTKN2,SGMS1,SLC16A9,SLC18A3,SYT15,TFAM,TIMM23,TMEM26,UBE2D1,VSTM4,WDFY4,ZFAND4,ZNF365,ZNF488,ZWINT chr10 46111165 46378456 Gain Normal Birdsuite, version 1.5.2 22087296 AGAP4,FAM21C,ZFAND4 chr10 46111165 46467593 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4,FAM21C,ZFAND4 chr10 46111165 46489684 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4,FAM21C,ZFAND4 chr10 46111165 47213510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46111165 47737209 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15,ZFAND4 chr10 46135714 46135814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFAND4 chr10 46137133 46153079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFAND4 chr10 46162034 46162149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFAND4 chr10 46168059 46182746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFAND4 chr10 46192800 46198900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46193453 46195217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46193453 46676017 Gain and loss Pancreatic cancer SNP array 17952125 AGAP4,FAM21C,PTPN20A,PTPN20B chr10 46200000 46800000 Copy number Cognitive impairment - 21505072 AGAP4,BMS1P1,BMS1P5,FAM21C,GLUD1P7,PTPN20A,PTPN20B chr10 46210410 46211528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46232533 46428959 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,FAM21C chr10 46232533 46645403 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,FAM21C,PTPN20A,PTPN20B chr10 46232533 47159671 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46232533 47262482 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46232533 47801347 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46232533 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46240000 46830000 Copy number Cognitive impairment - 21505072 AGAP4,BMS1P1,BMS1P5,FAM21C,GLUD1P7,PTPN20A,PTPN20B chr10 4624802 4625120 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 46263177 46263434 Gain and loss Pancreatic cancer SNP array 17952125 FAM21C chr10 46270330 46866268 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AGAP4,BMS1P1,BMS1P5,FAM21C,GLUD1P7,PTPN20A,PTPN20B chr10 46272296 47159671 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46272296 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP4,AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46317647 46359154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP4 chr10 46317654 46358373 Gain and loss Pancreatic cancer SNP array 17952125 AGAP4 chr10 46320436 46320674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 46320436 46320674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46324446 47521875 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46324446 47521875 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46327251 46365250 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP4 chr10 46334094 46334801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP4 chr10 46337321 47468066 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46338178 46455621 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4 chr10 46338178 46467593 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP4 chr10 46338178 46475648 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP4 chr10 46338178 46475648 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4 chr10 46338178 46501689 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4 chr10 46338178 46570464 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4,PTPN20A,PTPN20B chr10 46338178 46812326 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP4,BMS1P1,BMS1P5,GLUD1P7,PTPN20A,PTPN20B chr10 46338178 46812326 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4,BMS1P1,BMS1P5,GLUD1P7,PTPN20A,PTPN20B chr10 46338178 46812351 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 AGAP4,BMS1P1,BMS1P5,GLUD1P7,PTPN20A,PTPN20B chr10 46338178 47170471 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP4,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46338178 47213510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46351595 47480482 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46352201 47799776 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46355888 47173913 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46355888 47173913 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46355888 47487329 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46355888 47487329 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46355888 47499396 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46355888 47499396 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46355888 47521875 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46355888 47521875 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46363383 46557002 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 PTPN20A,PTPN20B chr10 46363383 47154881 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46363383 47162951 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46363383 47213510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46365251 46381250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 46365512 47048922 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,PTPN20A,PTPN20B,SYT15 chr10 46365512 47499396 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46366702 47173619 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46369517 47197218 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46369517 47197218 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46369517 47521875 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46369517 47521875 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46372768 46390818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46372768 46390818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46376648 46483112 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 46376648 46507195 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr10 46376648 46669581 Duplication Normal Affymetrix 6.0 microarrays 20967226 PTPN20A,PTPN20B chr10 46376648 46812326 Duplication Normal Affymetrix 6.0 microarrays 20967226 BMS1P1,BMS1P5,GLUD1P7,PTPN20A,PTPN20B chr10 46376648 47012088 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,PTPN20A,PTPN20B,SYT15 chr10 46376648 47174631 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46376648 47213510 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46376648 47213510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46378456 46386553 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46378532 46390607 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 46381239 47174631 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46381251 46392000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 46384979 51249165 Duplication Autism BCM V8.1 OLIGO 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46384979 51249165 Duplication Developmental delay BCM V8.1 OLIGO 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46384979 51265056 Deletion Developmental delay BCM V8.0 OLIGO 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46384979 51265056 Deletion Intellectual disability BCM V8.0 OLIGO 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46384979 51265056 Duplication Autism BCM V8.2 OLIGO 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46384979 51265056 Duplication Developmental delay BCM V8.2 OLIGO 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46384979 51265056 Duplication Dysmorphic features BCM V8.2 OLIGO 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46384979 51265056 Duplication Epilepsy BCM V8.2 OLIGO 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46384979 51672034 Deletion Developmental delay BCM V8.1 OLIGO 21948486 AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,TIMM23,VSTM4,WDFY4,ZNF488 chr10 46384979 52085077 Deletion Developmental delay BCM V8.0 OLIGO 21948486 AGAP6,AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SGMS1,SLC18A3,SYT15,TIMM23,VSTM4,WDFY4,ZNF488 chr10 46384979 52085077 Deletion Intellectual disability BCM V8.0 OLIGO 21948486 AGAP6,AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SGMS1,SLC18A3,SYT15,TIMM23,VSTM4,WDFY4,ZNF488 chr10 46385159 46593846 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 PTPN20A,PTPN20B chr10 46386111 46564335 Substitutions and indels small cell lung cancer array-CGH 20016488 PTPN20A,PTPN20B chr10 46386553 46475660 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46387523 47173913 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46387523 47173913 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46387523 47479934 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46387523 47479934 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46387523 47519698 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46387523 47519698 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46387883 47499396 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46387883 47499396 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46392001 46410500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 46392156 47499396 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46392156 47499396 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46392238 46558856 Copy number Lung cancer paired-end sequencing 18438408 PTPN20A,PTPN20B chr10 46396163 46568496 Copy number Rett syndrome References 21593744 PTPN20A,PTPN20B chr10 46396163 46568496 Duplication or duplication Rett syndrome References 21593744 PTPN20A,PTPN20B chr10 46396192 46516611 Loss Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr10 46397572 46557002 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 PTPN20A,PTPN20B chr10 46400346 51237832 Deletion cleft palate 135k (SignatureChip OS v2.0) 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46400346 51237832 Deletion Developmental delay 135K (SignatureChipOS v2.0) 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46400346 51237832 Deletion Intellectual disability 135K (SignatureChipOS v2.0) 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46400346 51237832 Duplication Encephalopathy 135K (SignatureChipOS v2.0) 21948486 AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46401243 46481060 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 NOT_FOUND chr10 46404978 46562076 Copy number Lung cancer paired-end sequencing 18438408 PTPN20A,PTPN20B chr10 46408823 47533376 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46408823 47533376 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46409086 46467593 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 46409086 46812326 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BMS1P1,BMS1P5,GLUD1P7,PTPN20A,PTPN20B chr10 46413551 46420574 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr10 46413552 46420579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46413552 46420579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46419104 47124252 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46419104 47124252 Copy number gain Normal High-resolution SNP genotyping 21211785 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46419104 47519698 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46419104 47519698 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46419395 47127301 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46419395 47127301 Copy number gain Normal High-resolution SNP genotyping 21211785 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46419898 47519698 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46424501 46440500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 46445001 46571500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPN20A,PTPN20B chr10 46456100 46456307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 46465575 47138226 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46465575 47138226 Copy number gain Normal High-resolution SNP genotyping 21211785 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46467593 46479815 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 46475649 46479179 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 46475660 46475717 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46475706 46482304 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 46475717 46478798 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46478786 46478967 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 46478786 46489684 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 46478786 46497952 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 46478786 46498702 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 46478786 46501689 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 46478798 46479827 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46479827 46483124 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46482305 47016329 Duplication Normal Affymetrix 6.0 microarrays 20967226 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,PTPN20A,PTPN20B,SYT15 chr10 46482305 47170075 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46482305 47173217 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46482305 47173619 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46482305 47213510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46483124 46489696 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46487312 47262482 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46487406 46669581 Deletion Normal Affymetrix 6.0 microarrays 20967226 PTPN20A,PTPN20B chr10 46487406 47170471 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46487420 47213510 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46487475 46812326 Duplication Normal Affymetrix 6.0 microarrays 20967226 BMS1P1,BMS1P5,GLUD1P7,PTPN20A,PTPN20B chr10 46488221 46812326 Duplication Normal Affymetrix 6.0 microarrays 20967226 BMS1P1,BMS1P5,GLUD1P7,PTPN20A,PTPN20B chr10 46489696 46494897 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46494897 46510557 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46497745 51472379 Duplication Developmental delay Affy SNP 6.0 21948486 AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 chr10 46499590 47173619 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46503539 46508326 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 46503539 46508326 Gain or loss Cancer - 20668451 NOT_FOUND chr10 46503539 46508326 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 46503539 46508326 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 46503539 46508326 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 46503539 46508326 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 46503540 46508326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46503540 46508326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46508382 46508709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 46510557 46533268 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 46511545 46676017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46516236 47213510 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46516236 47213510 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46529465 47165847 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46529465 47165847 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46532362 47171442 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46532362 47171442 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46533268 46567320 Gain Normal Birdsuite, version 1.5.2 22087296 PTPN20A,PTPN20B chr10 46542734 47165847 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46542734 47165847 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46542734 47171966 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46542734 47171966 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46542734 47172439 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46542734 47172439 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46553344 46553904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46553344 46553904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46559273 46560671 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPN20A,PTPN20B chr10 46563994 47173913 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46563994 47173913 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46567320 46573925 Gain Normal Birdsuite, version 1.5.2 22087296 PTPN20A,PTPN20B chr10 4657000 14257000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,BEND7,C10orf47,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CELF2,DHTKD1,ECHDC3,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,IL15RA,IL2RA,ITIH2,ITIH5,KIN,LOC100216001,LOC100507127,LOC219731,LOC254312,LOC283070,LOC338588,LOC399715,LOC439949,LOC439950,MCM10,MIR3155A,MIR3155B,MIR4480,NET1,NUDT5,OPTN,PFKFB3,PHYH,PRKCQ,PRPF18,RBM17,SEC61A2,SEPHS1,SFMBT2,SFTA1P,TAF3,TAKR,TUBAL3,UCMA,UCN3,UPF2,USP6NL chr10 46570855 47197218 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46570855 47197218 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46571369 46571854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46571369 46571854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46571501 46573000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPN20A,PTPN20B chr10 46573577 46591751 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PTPN20A,PTPN20B chr10 46573767 48301935 Substitutions and indels small cell lung cancer array-CGH 20016488 AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46573925 47011195 Gain Normal Birdsuite, version 1.5.2 22087296 BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,PTPN20A,PTPN20B,SYT15 chr10 46577992 46594100 Gain and loss Pancreatic cancer SNP array 17952125 PTPN20A,PTPN20B chr10 46577992 46594128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46597241 46601686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46597266 46601668 Gain and loss Pancreatic cancer SNP array 17952125 PTPN20A,PTPN20B chr10 46611784 46663480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46611784 46663480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN20A,PTPN20B chr10 46612071 46620321 Gain and loss Pancreatic cancer SNP array 17952125 PTPN20A,PTPN20B chr10 466179 466444 Gain and loss Pancreatic cancer SNP array 17952125 DIP2C chr10 466179 466444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2C chr10 46628722 47340454 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46628722 47340454 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 chr10 46669581 47173217 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46669581 47213510 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46669581 47213510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,GLUD1P7,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46673601 46679689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46675971 46681970 Loss Normal TaqMan assays 20972442 NOT_FOUND chr10 46691228 46692348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46743982 46744239 Gain and loss Pancreatic cancer SNP array 17952125 BMS1P1,BMS1P5 chr10 46789698 57554946 Copy number Lung cancer paired-end sequencing 18438408 A1CF,AGAP6,AGAP7,AGAP8,AGAP9,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,ASAH2,ASAH2B,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf53,C10orf71,CHAT,CSTF2T,CTSL1P2,DKK1,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC100506733,LOC100506939,LOC399753,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MBL2,MIR4294,MIR605,MSMB,MTRNR2L5,NCOA4,OGDHL,PARG,PCDH15,PGBD3,PPYR1,PRKG1,PTPN20A,PTPN20B,RBP3,SGMS1,SLC18A3,SYT15,TIMM23,VSTM4,WDFY4,ZNF488 chr10 46790312 47173288 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46790312 47173619 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46790312 47173619 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46790312 47174631 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46790312 47174631 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46790312 47213510 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46791956 107888061 Copy number Lung cancer paired-end sequencing 18438408 A1CF,ABCC2,ACTA2,ACTR1A,ADAMTS14,ADK,ADO,AGAP11,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATOH7,AVPI1,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BTAF1,BTRC,C10orf105,C10orf107,C10orf11,C10orf116,C10orf12,C10orf128,C10orf129,C10orf131,C10orf2,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf95,C10orf99,CALHM1,CALHM2,CALHM3,CAMK2G,CC2D2B,CCAR1,CCDC147,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST3,CHUK,CISD1,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CRTAC1,CSTF2T,CTNNA3,CTSL1P2,CUEDC2,CUTC,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DDIT4,DDX21,DDX50,DKK1,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DPCD,DRGX,DUPD1,DUSP13,DYDC1,DYDC2,ECD,EGR2,EIF4EBP2,EIF5AL1,ELOVL3,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM170B,FAM178A,FAM190B,FAM213A,FAM21A,FAM21B,FAM22A,FAM22D,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FLJ31813,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUT11,GBF1,GDF10,GDF2,GHITM,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPRIN2,GRID1,GRID1-AS1,GSTO1,GSTO2,H2AFY2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,INA,IPMK,ITPRIP,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNMA1,KIAA0913,KIAA1279,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LDB3,LGI1,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100506733,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC283050,LOC399753,LOC439990,LOC439994,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCU,MGEA5,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3924,MIR4294,MIR4482-1,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4685,MIR548AV,MIR5692C2,MIR605,MIR608,MIR609,MIR936,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTRNR2L5,MYOF,MYOZ1,MYPN,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NKX2-3,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NRBF2,NRG3,NT5C2,NUDT13,NUDT9P1,O3FAR1,OBFC1,OGDHL,OIT3,OPALIN,OPN4,P4HA1,PALD1,PANK1,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDE6C,PDLIM1,PDZD7,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,POLL,POLR3A,PPA1,PPIF,PPP1R3C,PPP3CB,PPRC1,PPYR1,PRF1,PRKG1,PSAP,PSD,PTEN,PTPN20A,PTPN20B,PYROXD2,R3HCC1L,RBP3,RBP4,REEP3,RGR,RHOBTB1,RNLS,RPP30,RPS24,RRP12,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SIRT1,SLC16A12,SLC16A9,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SNCG,SNORA12,SNORD98,SORBS1,SORCS3,SPOCK2,SRGN,STAMBPL1,STOX1,SUFU,SUPV3L1,SYNPO2L,SYT15,TACR2,TAF5,TBATA,TBC1D12,TCTN3,TET1,TFAM,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TNKS2,TRIM8,TSPAN14,TSPAN15,TTC18,TYSND1,UBE2D1,UBTD1,UNC5B,USMG5,USP54,VCL,VDAC2,VPS26A,VSTM4,WAPAL,WBP1L,WDFY4,WDR96,WNT8B,ZCCHC24,ZDHHC16,ZFYVE27,ZMIZ1,ZNF365,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZWINT chr10 46798229 47479934 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46798229 47479934 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46799733 46840462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 46800771 46840462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46804530 47485151 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46804530 47485151 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46816229 46816828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 46831529 47129537 Copy number loss Normal High-resolution SNP genotyping 21211785 FAM35B,GPRIN2,LOC643650,PPYR1,SYT15 chr10 46831529 47131474 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM35B,GPRIN2,LOC643650,PPYR1,SYT15 chr10 46831529 47131474 Copy number loss Normal High-resolution SNP genotyping 21211785 FAM35B,GPRIN2,LOC643650,PPYR1,SYT15 chr10 46834287 47122505 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM35B,GPRIN2,LOC643650,PPYR1,SYT15 chr10 46835501 47053750 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM35B,GPRIN2,SYT15 chr10 46852507 47438936 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47127301 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM35B,GPRIN2,LOC643650,PPYR1,SYT15 chr10 46919984 47127301 Copy number loss Normal High-resolution SNP genotyping 21211785 FAM35B,GPRIN2,LOC643650,PPYR1,SYT15 chr10 46919984 47171442 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47171442 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA8,ANXA8L1,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47340454 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47340454 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47482481 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47482481 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47485151 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47485151 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47519698 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47519698 Copy number gain Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 46919984 47521875 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 chr10 4696701 4702300 Deletion Glioma mate-paired sequence 20126413 LOC100216001,LOC338588 chr10 46973281 46973366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 4698519 4699038 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC100216001,LOC338588 chr10 4698519 4700518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100216001,LOC338588 chr10 4698559 4700493 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100216001,LOC338588 chr10 4699043 4700522 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC100216001,LOC338588 chr10 46999176 47159671 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANXA8,ANXA8L1,GPRIN2,LOC643650,LOC728643,PPYR1 chr10 46999176 47262482 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,GPRIN2,LOC643650,LOC728643,PPYR1 chr10 46999208 47175011 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANXA8,ANXA8L1,GPRIN2,LOC643650,LOC728643,PPYR1 chr10 46999355 135111152 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A1CF,ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,ALDH18A1,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARHGAP22,ARID5B,ARL3,ARMS2,AS3MT,ASAH2,ASAH2B,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM21A,FAM21B,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMPD2,FRMPD2P1,FUT11,GBF1,GDF10,GDF2,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,IPMK,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399753,LOC399815,LOC399829,LOC439990,LOC439994,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRTM3,LZTS2,M1,MAPK8,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MBL2,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR4294,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR548AV,MIR5692C2,MIR5694,MIR605,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSMB,MSS51,MTRNR2L5,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OPALIN,OPN4,P4HA1,PALD1,PANK1,PAPSS2,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PGBD3,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRDX3,PRF1,PRKG1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP3,RBP4,REEP3,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYNPO2L,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VSTM4,VTI1A,VWA2,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF365,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZRANB1,ZWINT chr10 46999355 48101366 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P2,BMS1P6,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B2,GPRIN2,LOC643650,LOC728643,PPYR1 chr10 46999355 49467140 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B2,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,GPRIN2,LOC399753,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,RBP3,ZNF488 chr10 47008700 47127301 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC643650,PPYR1 chr10 47008700 47127301 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC643650,PPYR1 chr10 47011183 47122809 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC643650,PPYR1 chr10 47011183 47145122 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 LOC643650,LOC728643,PPYR1 chr10 47011183 47155597 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC643650,LOC728643,PPYR1 chr10 47011183 47173619 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANXA8,ANXA8L1,LOC643650,LOC728643,PPYR1 chr10 47011183 47213510 Deletion Normal Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650,LOC728643,PPYR1 chr10 47011183 47213510 Duplication Normal Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650,LOC728643,PPYR1 chr10 47011183 47213510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650,LOC728643,PPYR1 chr10 47011195 47012100 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 47012088 47115289 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC643650,PPYR1 chr10 47012100 47147731 Gain Normal Birdsuite, version 1.5.2 22087296 LOC643650,LOC728643,PPYR1 chr10 47013328 47173619 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 ANXA8,ANXA8L1,LOC643650,LOC728643,PPYR1 chr10 47013328 47173619 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ANXA8,ANXA8L1,LOC643650,LOC728643,PPYR1 chr10 47015885 47127670 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC643650,PPYR1 chr10 47017598 47161232 Duplication Rett syndrome References 21593744 ANXA8,ANXA8L1,LOC643650,LOC728643,PPYR1 chr10 47017690 47213510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650,LOC728643,PPYR1 chr10 47018132 47122809 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC643650,PPYR1 chr10 47018 17814147 Substitutions and indels small cell lung cancer array-CGH 20016488 ACBD7,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,BEND7,C10orf108,C10orf111,C10orf47,C1QL3,CALML3,CALML5,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,DIP2C,ECHDC3,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,GATA3,GDI2,GTPBP4,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100128098,LOC100192204,LOC100216001,LOC100507034,LOC100507127,LOC219731,LOC254312,LOC282980,LOC283070,LOC338588,LOC399708,LOC399715,LOC439949,LOC439950,MCM10,MEIG1,MIR1265,MIR3155A,MIR3155B,MIR4480,MIR5699,NET1,NMT2,NUDT5,OLAH,OPTN,PFKFB3,PFKP,PHYH,PITRM1,PRKCQ,PRPF18,PTER,PTPLA,RBM17,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,ST8SIA6,STAM,SUV39H2,TAF3,TAKR,TMEM236,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WDR37,ZMYND11 chr10 47053751 47207500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650,LOC728643,PPYR1 chr10 47055668 47055768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 47062478 47143807 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 LOC643650,LOC728643,PPYR1 chr10 47064385 47065662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47075133 47114797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643650,PPYR1 chr10 47087405 47102770 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC643650,PPYR1 chr10 47091667 47938132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P2,BMS1P6,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B2,LOC643650,LOC728643 chr10 47093070 47213510 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650,LOC728643 chr10 47095386 47108278 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC643650 chr10 47097543 47097630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643650 chr10 47112618 47113148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC643650 chr10 47119687 47133864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC643650,LOC728643 chr10 47121400 47151348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC643650,LOC728643 chr10 47126085 47126360 Gain and loss Pancreatic cancer SNP array 17952125 LOC643650 chr10 47128255 47171348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANXA8,ANXA8L1,LOC643650,LOC728643 chr10 47128255 47171348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA8,ANXA8L1,LOC643650,LOC728643 chr10 47128505 47171287 Gain and loss Pancreatic cancer SNP array 17952125 ANXA8,ANXA8L1,LOC643650,LOC728643 chr10 47143807 47213510 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650 chr10 47143807 47480076 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B2,LOC643650 chr10 47145097 47165275 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANXA8,ANXA8L1,LOC643650 chr10 47146081 47146181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643650 chr10 47147731 47147804 Gain Normal Birdsuite, version 1.5.2 22087296 LOC643650 chr10 47147804 47165567 Gain Normal Birdsuite, version 1.5.2 22087296 ANXA8,ANXA8L1,LOC643650 chr10 47148500 47148600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643650 chr10 47155597 47480076 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGAP9,ANXA8,ANXA8L1,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G,FAM35B2 chr10 47165567 47170269 Gain Normal Birdsuite, version 1.5.2 22087296 ANXA8,ANXA8L1 chr10 47170269 47174643 Gain Normal Birdsuite, version 1.5.2 22087296 ANXA8,ANXA8L1 chr10 47174643 47241036 Gain Normal Birdsuite, version 1.5.2 22087296 AGAP9,BMS1P2,BMS1P6,FAM25B,FAM25C,FAM25G chr10 47178313 47199024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP9,FAM25B,FAM25C,FAM25G chr10 47178459 47199939 Gain and loss Pancreatic cancer SNP array 17952125 AGAP9,FAM25B,FAM25C,FAM25G chr10 47207501 47494750 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP9,BMS1P2,BMS1P6,FAM35B2 chr10 47210336 47214831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP9 chr10 47216309 47262427 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 BMS1P2,BMS1P6 chr10 47216926 47233044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMS1P2,BMS1P6 chr10 47216942 47240877 Gain and loss Pancreatic cancer SNP array 17952125 BMS1P2,BMS1P6 chr10 47216968 47240877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMS1P2,BMS1P6 chr10 47216968 47240877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMS1P2,BMS1P6 chr10 47414029 47469423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM35B2 chr10 47414578 47469420 Gain and loss Pancreatic cancer SNP array 17952125 FAM35B2 chr10 47417400 47737209 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM35B2 chr10 47432905 47468066 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 47432905 47737209 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 47485766 47487329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47494751 49130500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP9,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P2,BMS1P5,BMS1P6,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,FRMPD2P1,GDF10,GDF2,GLUD1P7,PTPN20A,PTPN20B,RBP3,ZNF488 chr10 47521609 47533610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47521790 47570545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 4758964 4759060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 47604096 47916254 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANXA8L2,FAM21B chr10 47655301 47655386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 47725753 47774013 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANXA8L2 chr10 47725753 47900156 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANXA8L2,FAM21B chr10 47758663 47759193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA8L2 chr10 4777242 4777386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 47777047 47778154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 4777958 4804661 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 477840 477940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2C chr10 47789671 47795816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47793348 47795112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 47793348 47795112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47796101 47972148 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM21B chr10 47799348 47972148 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM21B chr10 47805882 47857580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47805882 47857580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 4784081 4833378 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr10 47849043 47857293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 47867676 47872118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47867694 47872093 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 47875231 47891372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47875231 47891372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 47875259 47891372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 47875285 47899205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM21B chr10 47875285 47899205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM21B chr10 47897414 48101925 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM21B chr10 47897514 47897999 Gain and loss Pancreatic cancer SNP array 17952125 FAM21B chr10 47928933 50581445 Duplication Developmental delay SignatureChipWG v1.0.1 21948486 AGAP9,ANXA8,ANXA8L1,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf71,CTSL1P2,DRGX,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,PTPN20A,PTPN20B,RBP3,VSTM4,WDFY4,ZNF488 chr10 47928933 50581445 Duplication T-cell primary immunodeficiency SignatureChipWG v1.0.1 21948486 AGAP9,ANXA8,ANXA8L1,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf71,CTSL1P2,DRGX,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,PTPN20A,PTPN20B,RBP3,VSTM4,WDFY4,ZNF488 chr10 47975081 47993866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 47975081 47993866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48001487 48011005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48001495 48010997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48001495 48010997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48033098 48036859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48033098 48036859 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48033098 48036859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48045791 48059172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48045791 48059172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48045795 48059172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48102606 50641752 Deletion Normal BCM V7.4 OLIGO 21948486 AGAP9,ANXA8,ANXA8L1,ARHGAP22,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf128,C10orf71,CTSL1P2,DRGX,FAM170B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,GDF10,GDF2,GLUD1P7,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,PTPN20A,PTPN20B,RBP3,VSTM4,WDFY4,ZNF488 chr10 48147123 48147238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48210395 48214353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 48213402 49121538 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FRMPD2P1,GDF10,GDF2,GLUD1P7,PTPN20A,PTPN20B,RBP3,ZNF488 chr10 48213402 49121538 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FRMPD2P1,GDF10,GDF2,GLUD1P7,PTPN20A,PTPN20B,RBP3,ZNF488 chr10 48279392 48280256 Loss Normal 244K array 17666407 NOT_FOUND chr10 483001 484500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIP2C chr10 48324585 48324641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 4834237 4864712 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr10 48357046 48447940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDF10,GDF2,RBP3,ZNF488 chr10 48357046 48447940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDF10,GDF2,RBP3,ZNF488 chr10 48357048 48447930 Gain and loss Pancreatic cancer SNP array 17952125 GDF10,GDF2,RBP3,ZNF488 chr10 48361777 48361877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF488 chr10 48369168 48369236 Gain and loss Pancreatic cancer SNP array 17952125 ZNF488 chr10 48374157 48374208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48391944 48554750 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GDF10,GDF2 chr10 48391956 48702576 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GDF10,GDF2 chr10 48412793 48412882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48419941 48420120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48419951 48420051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48426207 49032447 Substitutions and indels small cell lung cancer array-CGH 20016488 BMS1P1,BMS1P5,FRMPD2P1,GDF10,GLUD1P7,PTPN20A,PTPN20B chr10 48427442 48427505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GDF10 chr10 48445237 48445314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 484501 771500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf108,DIP2C,MIR5699 chr10 48464046 48483638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48464046 48483638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48464253 48485643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48495467 48549091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 48498732 48498812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48504198 48715542 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 48504198 48715542 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 48504198 49010893 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BMS1P1,BMS1P5,FRMPD2P1,GLUD1P7,PTPN20A,PTPN20B chr10 48504198 49121538 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BMS1P1,BMS1P5,FRMPD2P1,GLUD1P7,PTPN20A,PTPN20B chr10 48521119 48542978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48523585 48542786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48548387 48548487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48551795 48551910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48554750 48578513 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 48557828 48572483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48557828 48572483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48582535 48588629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48582535 48588629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48583188 48584952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48583188 48584952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48583188 48584952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 4858401 4880251 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 AKR1E2 chr10 4858401 5057607 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 AKR1C1,AKR1C2,AKR1E2,TAKR chr10 4858402 4880249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKR1E2 chr10 4858402 4880249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1E2 chr10 4858426 4880249 Gain and loss Pancreatic cancer SNP array 17952125 AKR1E2 chr10 4859511 4859694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 48595950 48596050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48599844 48599876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48600168 48601279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48600168 48601279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48612550 48612650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 48652933 48653190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48707404 48714521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48710186 48710424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48710186 48710424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48865542 49121538 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BMS1P1,BMS1P5,GLUD1P7 chr10 48865577 48871539 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 48866957 48932382 Loss Normal 244K array 17666407 BMS1P1,BMS1P5 chr10 48871525 50765047 Deletion Developmental delay 244K Agilent 21948486 ARHGAP22,BMS1P1,BMS1P5,C10orf128,C10orf71,DRGX,ERCC6,FAM170B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,GLUD1P7,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,PGBD3,VSTM4,WDFY4 chr10 48871525 50765047 Deletion Intellectual disability 244K Agilent 21948486 ARHGAP22,BMS1P1,BMS1P5,C10orf128,C10orf71,DRGX,ERCC6,FAM170B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,GLUD1P7,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,PGBD3,VSTM4,WDFY4 chr10 48871826 49003399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BMS1P1,BMS1P5,GLUD1P7 chr10 48873392 48877823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48873392 48877823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48873417 48877805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48887898 48915947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 48887962 48909695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 48909484 70590276 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 A1CF,ADO,AGAP6,AGAP7,AGAP8,ANK3,ANXA2P3,ARHGAP22,ARID5B,ASAH2,ASAH2B,ATOH7,BICC1,BMS1P1,BMS1P5,C10orf107,C10orf128,C10orf40,C10orf53,C10orf71,CCAR1,CCDC6,CDK1,CHAT,CISD1,CSTF2T,CTNNA3,DKK1,DNA2,DNAJC12,DRGX,EGR2,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,GLUD1P7,HERC4,HNRNPH3,IPMK,JMJD1C,LOC100506733,LOC100506939,LOC399753,LOC728407,LOC84989,LRRC18,LRRTM3,M1,MAPK8,MBL2,MIR1296,MIR3924,MIR4294,MIR548AV,MIR605,MSMB,MTRNR2L5,MYPN,NCOA4,NRBF2,OGDHL,PARG,PBLD,PCDH15,PGBD3,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SGMS1,SIRT1,SLC16A9,SLC18A3,SLC25A16,SNORD98,STOX1,TET1,TFAM,TIMM23,TMEM26,UBE2D1,VSTM4,WDFY4,ZNF365,ZWINT chr10 48926247 48938066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMS1P1,BMS1P5 chr10 4893943 4894923 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr10 48941000 52218000 Deletion Developmental delay 72K (NimbleGen) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,BMS1P1,BMS1P5,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,GLUD1P7,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SGMS1,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 48941000 52218000 Deletion Intellectual disability 72K (NimbleGen) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,BMS1P1,BMS1P5,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,GLUD1P7,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SGMS1,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 48942340 49018474 Gain and loss Pancreatic cancer SNP array 17952125 BMS1P1,BMS1P5,GLUD1P7 chr10 48942352 49018482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMS1P1,BMS1P5,GLUD1P7 chr10 48942352 49018482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMS1P1,BMS1P5,GLUD1P7 chr10 48962470 50670601 Loss Developmental delay affymetrix genechip 500K/SNP 6.44 array 21147756 ARHGAP22,C10orf128,C10orf71,DRGX,ERCC6,FAM170B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,VSTM4,WDFY4 chr10 48992454 50432753 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP22,C10orf128,FAM170B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,VSTM4,WDFY4 chr10 4902474 4902574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 49030812 49064984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 49034608 49129806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 49034608 49152723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 49034608 49152723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 49034611 49053173 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr10 4903865 4924161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAKR chr10 4903865 4924161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAKR chr10 49062531 67740975 Substitutions and indels small cell lung cancer array-CGH 20016488 A1CF,ADO,AGAP6,AGAP7,AGAP8,ANK3,ANXA2P3,ARHGAP22,ARID5B,ASAH2,ASAH2B,BICC1,C10orf107,C10orf128,C10orf40,C10orf53,C10orf71,CCDC6,CDK1,CHAT,CISD1,CSTF2T,CTNNA3,DKK1,DRGX,EGR2,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,IPMK,JMJD1C,LOC100506733,LOC100506939,LOC399753,LOC728407,LOC84989,LRRC18,M1,MAPK8,MBL2,MIR1296,MIR3924,MIR4294,MIR548AV,MIR605,MSMB,MTRNR2L5,NCOA4,NRBF2,OGDHL,PARG,PCDH15,PGBD3,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,SGMS1,SLC16A9,SLC18A3,TFAM,TIMM23,TMEM26,UBE2D1,VSTM4,WDFY4,ZNF365,ZWINT chr10 49062854 52062367 Deletion Developmental delay 135K (SignatureChipOS v2.0) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49062854 52062367 Deletion Intellectual disability 135K (SignatureChipOS v2.0) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49062854 52062367 Duplication Developmental delay 135K (SignatureChipOS v2.0) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49062854 52062367 Duplication Dysmorphic features 135K (SignatureChipOS v2.0) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49062854 52062367 Duplication Epilepsy 135K (SignatureChipOS v2.0) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49062854 52062367 Duplication skeletal anomalies 135K (SignatureChipOS v2.0) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49062900 52085077 Duplication Autism BCM V8.1 OLIGO 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SGMS1,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49062900 52085077 Duplication speech delay BCM V8.1 OLIGO 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SGMS1,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49080683 50233614 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP22,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,LOC399753,LRRC18,MAPK8,MIR4294,VSTM4,WDFY4 chr10 49121974 50641724 Deletion Developmental delay BCM V7.1 OLIGO 21948486 ARHGAP22,C10orf128,C10orf71,DRGX,FAM170B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,VSTM4,WDFY4 chr10 49121974 50641724 Deletion Dysmorphic features BCM V7.1 OLIGO 21948486 ARHGAP22,C10orf128,C10orf71,DRGX,FAM170B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,VSTM4,WDFY4 chr10 49121974 50641724 Deletion Intellectual disability BCM V7.1 OLIGO 21948486 ARHGAP22,C10orf128,C10orf71,DRGX,FAM170B,FAM25B,FAM25C,FAM25G,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LRRC18,MAPK8,MIR4294,VSTM4,WDFY4 chr10 49127859 49127924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 49145512 49174261 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 49151859 52085217 Duplication Developmental delay 135K (SignatureChipOS v1.1) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SGMS1,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49151859 52085217 Duplication Dysmorphic features 135K (SignatureChipOS v1.1) 21948486 AGAP6,AGAP7,AGAP8,ARHGAP22,ASAH2,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FAM25B,FAM25C,FAM25G,FLJ31813,FRMPD2,FRMPD2P1,LOC100506733,LOC399753,LOC728407,LRRC18,MAPK8,MIR4294,MSMB,NCOA4,OGDHL,PARG,PGBD3,SGMS1,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 49170748 49171466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 4917673 4924167 Gain and loss Pancreatic cancer SNP array 17952125 TAKR chr10 49184001 49185500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 49184695 49313189 Gain or loss Breast cancer - 20668451 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49184695 49313189 Gain or loss Cancer - 20668451 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49184695 49313189 Gain or loss Lung cancer - 20668451 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49184695 49313189 Gain or loss Ovarian cancer - 20668451 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49184695 49313189 Gain or loss Pancreas cancer - 20668451 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49184695 49313189 Gain or loss Prostate cancer - 20668451 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49184739 49317409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49184739 49317409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49196335 49241810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM25B,FAM25C,FAM25G,LOC399753 chr10 49279693 49314486 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 49319501 49349500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 49324085 49483182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMPD2,FRMPD2P1 chr10 49324085 49483182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMPD2,FRMPD2P1 chr10 49324086 49483182 Gain and loss Pancreatic cancer SNP array 17952125 FRMPD2,FRMPD2P1 chr10 49349501 50307500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP22,FRMPD2,FRMPD2P1,LRRC18,MAPK8,MIR4294,VSTM4,WDFY4 chr10 49413156 49413256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMPD2 chr10 49424523 49424764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMPD2 chr10 49430128 49435536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRMPD2 chr10 49440425 49448216 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRMPD2 chr10 49441954 49441993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMPD2 chr10 49443927 49444009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMPD2 chr10 49492540 49492640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 49522563 49522696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 49541168 49564496 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 49562927 49861000 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP22,MAPK8 chr10 49562927 49861006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP22,MAPK8 chr10 49562927 49861006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP22,MAPK8 chr10 49572821 49572921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 49587163 49587485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 49623596 49624179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK8 chr10 49623767 49624150 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8 chr10 49656069 49656169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP22 chr10 49658159 49658159 Copy number Prostate cancer Illumina GA II sequencer 21307934 ARHGAP22 chr10 49672571 49672671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP22 chr10 49726457 49729424 Loss Normal 244K array 17666407 ARHGAP22 chr10 49750347 49750447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP22 chr10 49777170 49777214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP22 chr10 49787534 49813241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP22 chr10 49787534 49813241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP22 chr10 49787539 49813241 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP22 chr10 49797525 49797624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP22 chr10 49807669 50566057 LOH Normal High-resolution SNP genotyping 21211785 ARHGAP22,C10orf128,C10orf71,FAM170B,LOC100506733,LRRC18,MIR4294,VSTM4,WDFY4 chr10 4984309 4987561 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 49856213 49856306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP22 chr10 49867350 49894641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDFY4 chr10 49867975 49877187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 49874794 49877193 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 49896258 49993560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDFY4 chr10 49896258 49993560 Gain and loss Pancreatic cancer SNP array 17952125 WDFY4 chr10 49896258 49993560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDFY4 chr10 49900000 61200000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 A1CF,AGAP6,AGAP7,AGAP8,ASAH2,ASAH2B,BICC1,C10orf128,C10orf53,C10orf71,CHAT,CISD1,CSTF2T,DKK1,DRGX,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FLJ31813,IPMK,LOC100506733,LOC100506939,LOC728407,LRRC18,MBL2,MIR3924,MIR4294,MIR605,MSMB,MTRNR2L5,NCOA4,OGDHL,PARG,PCDH15,PGBD3,PHYHIPL,PRKG1,SGMS1,SLC18A3,TFAM,TIMM23,UBE2D1,VSTM4,WDFY4,ZWINT chr10 49928485 49928580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY4 chr10 49929759 49929854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY4 chr10 4994627 4994761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 4994627 4994761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 49948022 49948338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDFY4 chr10 4995453 5010157 Gain and loss Pancreatic cancer SNP array 17952125 AKR1C1 chr10 4995566 5010445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKR1C1 chr10 4995566 5010445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1C1 chr10 49983040 49983254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDFY4 chr10 50001 214405 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 TUBB8,ZMYND11 chr10 50001 214405 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TUBB8,ZMYND11 chr10 50009205 50012071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDFY4 chr10 50009205 50012071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDFY4 chr10 50009217 50012071 Gain and loss Pancreatic cancer SNP array 17952125 WDFY4 chr10 50032781 50066442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDFY4 chr10 50032781 50066442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDFY4 chr10 50097077 51052051 LOH Normal High-resolution SNP genotyping 21211785 C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,LOC100506733,LRRC18,MIR4294,OGDHL,PARG,PGBD3,SLC18A3,VSTM4,WDFY4 chr10 50100000 53300000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 A1CF,AGAP6,AGAP7,AGAP8,ASAH2,ASAH2B,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FLJ31813,LOC100506733,LOC728407,LRRC18,MIR4294,MIR605,MSMB,NCOA4,OGDHL,PARG,PGBD3,PRKG1,SGMS1,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 50100000 53300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A1CF,AGAP6,AGAP7,AGAP8,ASAH2,ASAH2B,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FAM21A,FAM21B,FLJ31813,LOC100506733,LOC728407,LRRC18,MIR4294,MIR605,MSMB,NCOA4,OGDHL,PARG,PGBD3,PRKG1,SGMS1,SLC18A3,TIMM23,VSTM4,WDFY4 chr10 50100000 71300000 Loss Metanephric adenoma Oligo aCGH 20802469 A1CF,ADO,AGAP6,AGAP7,AGAP8,ANK3,ANXA2P3,ARID5B,ASAH2,ASAH2B,ATOH7,BICC1,C10orf107,C10orf128,C10orf40,C10orf53,C10orf71,CCAR1,CCDC6,CDK1,CHAT,CISD1,CSTF2T,CTNNA3,DDX21,DDX50,DKK1,DNA2,DNAJC12,DRGX,EGR2,ERCC6,FAM133CP,FAM13C,FAM170B,FAM21A,FAM21B,FLJ31813,HERC4,HK1,HKDC1,HNRNPH3,IPMK,JMJD1C,KIAA1279,LOC100506733,LOC100506939,LOC728407,LOC84989,LRRC18,LRRTM3,M1,MBL2,MIR1296,MIR3924,MIR4294,MIR548AV,MIR605,MSMB,MTRNR2L5,MYPN,NCOA4,NRBF2,OGDHL,PARG,PBLD,PCDH15,PGBD3,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SGMS1,SIRT1,SLC16A9,SLC18A3,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TFAM,TIMM23,TMEM26,TSPAN15,UBE2D1,VPS26A,VSTM4,WDFY4,ZNF365,ZWINT chr10 50163997 50164077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY4 chr10 50167741 50167798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY4 chr10 50173176 50173276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY4 chr10 50177193 50205538 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4294,WDFY4 chr10 50177193 50205538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4294,WDFY4 chr10 50177244 50205538 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4294,WDFY4 chr10 50177244 50205538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4294,WDFY4 chr10 50177244 50205538 Gain and loss Pancreatic cancer SNP array 17952125 MIR4294,WDFY4 chr10 50177244 50205538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4294,WDFY4 chr10 50184285 50184385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY4 chr10 50213575 50213772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 5021964 5050207 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 AKR1C2 chr10 5021966 5036207 Gain and loss Pancreatic cancer SNP array 17952125 AKR1C2 chr10 5021966 5050207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKR1C2 chr10 5021966 5050207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1C2 chr10 50224356 50234637 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VSTM4 chr10 50239677 50581445 Duplication Autism SignatureChipWG v1.0.1 21948486 C10orf128,C10orf71,DRGX,FAM170B,LOC100506733,VSTM4 chr10 50239677 50581445 Duplication Developmental delay SignatureChipWG v1.0.1 21948486 C10orf128,C10orf71,DRGX,FAM170B,LOC100506733,VSTM4 chr10 50239677 50581445 Duplication Intellectual disability SignatureChipWG v1.0.1 21948486 C10orf128,C10orf71,DRGX,FAM170B,LOC100506733,VSTM4 chr10 50242243 50273992 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VSTM4 chr10 50242243 50273992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VSTM4 chr10 50242243 50273992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VSTM4 chr10 50244167 50273492 Gain and loss Pancreatic cancer SNP array 17952125 VSTM4 chr10 50244969 50245069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VSTM4 chr10 50265332 50721613 Duplication Hypotonia BCM V8.1 OLIGO 21948486 C10orf128,C10orf71,DRGX,ERCC6,FAM170B,LOC100506733,VSTM4 chr10 50299080 50299178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VSTM4 chr10 50334496 50417153 Copy number Lung cancer - 20668451 C10orf128,FAM170B,LOC100506733 chr10 50334496 50417153 Deletion Intellectual disability 100k SNP Array 21811512 C10orf128,FAM170B,LOC100506733 chr10 50334496 50417153 Gain or loss Breast cancer - 20668451 C10orf128,FAM170B,LOC100506733 chr10 50334496 50417153 Gain or loss Cancer - 20668451 C10orf128,FAM170B,LOC100506733 chr10 50334496 50417153 Gain or loss Lung cancer - 20668451 C10orf128,FAM170B,LOC100506733 chr10 50334496 50417153 Gain or loss Ovarian cancer - 20668451 C10orf128,FAM170B,LOC100506733 chr10 50334496 50417153 Gain or loss Pancreas cancer - 20668451 C10orf128,FAM170B,LOC100506733 chr10 50334496 50417153 Gain or loss Prostate cancer - 20668451 C10orf128,FAM170B,LOC100506733 chr10 5033497 50417153 Copy number Autism exome sequencing 22495311 ABI1,ACBD5,ACBD7,ACTR3BP5,AGAP4,AGAP9,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,ALOX5,ANKRD16,ANKRD26,ANKRD30A,ANXA8,ANXA8L1,ANXA8L2,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf111,C10orf113,C10orf114,C10orf128,C10orf25,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CTSL1P2,CUBN,CUL2,CXCL12,DCLRE1C,DHTKD1,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM170B,FAM171A1,FAM188A,FAM208B,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FBXO18,FLJ45983,FRMD4A,FRMPD2,FRMPD2P1,FXYD4,FZD8,GAD2,GATA3,GDF10,GDF2,GDI2,GJD4,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,HNRNPA3P1,HNRNPF,HSD17B7P2,HSPA14,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC283033,LOC283070,LOC338579,LOC387647,LOC399715,LOC399744,LOC399753,LOC439949,LOC439950,LOC441666,LOC643650,LOC728643,LOC731789,LOC84856,LRRC18,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MAPK8,MARCH8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR4294,MIR4480,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR5586,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OR13A1,OTUD1,PARD3,PDSS1,PFKFB3,PHYH,PIP4K2A,PLXDC2,PPYR1,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBM17,RBP3,RET,RPP38,RSU1,RSU1P2,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,SYT15,TAF3,THNSL1,TMEM236,TMEM72,TMEM72-AS1,TRDMT1,TUBAL3,UCMA,UCN3,UPF2,USP6NL,VIM,VSTM4,WAC,WDFY4,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488 chr10 50336715 50417078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf128,FAM170B,LOC100506733 chr10 50336715 50417078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf128,FAM170B,LOC100506733 chr10 50336715 50417594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C10orf128,FAM170B,LOC100506733 chr10 50336715 50417594 Gain and loss Pancreatic cancer SNP array 17952125 C10orf128,FAM170B,LOC100506733 chr10 50364063 50396529 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C10orf128 chr10 5036901 5037035 Gain and loss Pancreatic cancer SNP array 17952125 AKR1C2 chr10 5036901 5037035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1C2 chr10 50372878 50372958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf128 chr10 50390522 50390622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf128 chr10 50393157 50417092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf128 chr10 50393157 50417092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf128 chr10 50393324 70694787 Deletion Esophageal cancer affymetrix genechip human mapping 275K Nsp arrays 21851588 A1CF,ADO,AGAP6,AGAP7,AGAP8,ANK3,ANXA2P3,ARID5B,ASAH2,ASAH2B,ATOH7,BICC1,C10orf107,C10orf128,C10orf40,C10orf53,C10orf71,CCAR1,CCDC6,CDK1,CHAT,CISD1,CSTF2T,CTNNA3,DDX50,DKK1,DNA2,DNAJC12,DRGX,EGR2,ERCC6,FAM133CP,FAM13C,FAM21A,FAM21B,FLJ31813,HERC4,HNRNPH3,IPMK,JMJD1C,LOC100506939,LOC728407,LOC84989,LRRTM3,M1,MBL2,MIR1296,MIR3924,MIR548AV,MIR605,MSMB,MTRNR2L5,MYPN,NCOA4,NRBF2,OGDHL,PARG,PBLD,PCDH15,PGBD3,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SGMS1,SIRT1,SLC16A9,SLC18A3,SLC25A16,SNORD98,STOX1,TET1,TFAM,TIMM23,TMEM26,UBE2D1,ZNF365,ZWINT chr10 50398078 50398150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 50413548 50565460 Deletion Normal Arbitrated Peel-off 21527027 C10orf71 chr10 50416501 50417500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 50469501 50488500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 50478846 50478931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 50484851 50484951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 50487147 50543156 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C10orf71 chr10 50487147 50543156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf71 chr10 50487147 50543156 Gain and loss Pancreatic cancer SNP array 17952125 C10orf71 chr10 50487147 50543156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf71 chr10 50488353 50490771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 50488427 50490771 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 50488427 50490771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50488427 50490771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50488501 50494500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 50494501 50613000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf71,DRGX chr10 50522415 50522515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf71 chr10 50535833 50535865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 50540533 50540623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 50557690 50586962 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DRGX chr10 50557690 50586962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DRGX chr10 50557690 50586962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRGX chr10 50557703 50586669 Gain and loss Pancreatic cancer SNP array 17952125 DRGX chr10 50581041 50581425 Gain and loss Pancreatic cancer SNP array 17952125 DRGX chr10 50581041 50581425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRGX chr10 50612717 50640375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 50612717 50640375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50612717 50640375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 50612717 50640375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50613001 50640500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 50641980 50807416 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ERCC6,PGBD3 chr10 50641980 51595172 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP7,AGAP8,C10orf53,CHAT,ERCC6,LOC728407,MSMB,NCOA4,OGDHL,PARG,PGBD3,SLC18A3,TIMM23 chr10 50649893 50651351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50665885 50665966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERCC6 chr10 50666127 50666211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERCC6 chr10 50672694 50673105 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 ERCC6 chr10 50674142 50680904 Loss Normal Birdsuite, version 1.5.2 22087296 ERCC6 chr10 50678421 50678523 Loss Normal 244K array 17666407 ERCC6 chr10 50678421 50681816 Loss Normal 244K array 17666407 ERCC6 chr10 50696330 51399973 Gain or loss Breast cancer - 20668451 AGAP8,C10orf53,CHAT,ERCC6,LOC728407,OGDHL,PARG,PGBD3,SLC18A3 chr10 50696330 51399973 Gain or loss Cancer - 20668451 AGAP8,C10orf53,CHAT,ERCC6,LOC728407,OGDHL,PARG,PGBD3,SLC18A3 chr10 50696330 51399973 Gain or loss Lung cancer - 20668451 AGAP8,C10orf53,CHAT,ERCC6,LOC728407,OGDHL,PARG,PGBD3,SLC18A3 chr10 50696330 51399973 Gain or loss Ovarian cancer - 20668451 AGAP8,C10orf53,CHAT,ERCC6,LOC728407,OGDHL,PARG,PGBD3,SLC18A3 chr10 50696330 51399973 Gain or loss Pancreas cancer - 20668451 AGAP8,C10orf53,CHAT,ERCC6,LOC728407,OGDHL,PARG,PGBD3,SLC18A3 chr10 50696330 51399973 Gain or loss Prostate cancer - 20668451 AGAP8,C10orf53,CHAT,ERCC6,LOC728407,OGDHL,PARG,PGBD3,SLC18A3 chr10 50696337 51041337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf53,CHAT,ERCC6,OGDHL,PARG,PGBD3,SLC18A3 chr10 50696337 51041337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf53,CHAT,ERCC6,OGDHL,PARG,PGBD3,SLC18A3 chr10 50696446 50758082 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERCC6,PGBD3 chr10 50721724 51158065 Loss Normal 244K array 17666407 C10orf53,CHAT,ERCC6,OGDHL,PARG,PGBD3,SLC18A3 chr10 50748011 50748095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 50755454 50755554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 50764788 51264692 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 AGAP8,C10orf53,CHAT,LOC728407,OGDHL,PARG,SLC18A3 chr10 50787665 50787994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5081004 5083862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50825067 50825152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHAT chr10 50827953 50828038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHAT chr10 50857416 51278775 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP8,C10orf53,CHAT,LOC728407,OGDHL,PARG chr10 50857944 50862035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHAT chr10 50858031 50862035 Gain and loss Pancreatic cancer SNP array 17952125 CHAT chr10 50867144 51119433 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C10orf53,CHAT,OGDHL,PARG chr10 50884511 50886400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50884511 50886400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50884571 50886349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 50894683 50916541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf53 chr10 50894688 51041076 Gain and loss Pancreatic cancer SNP array 17952125 C10orf53,OGDHL,PARG chr10 50897218 50897294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf53 chr10 50901582 51067077 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C10orf53,OGDHL,PARG chr10 50925386 50925501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50930915 50935336 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr10 50936306 50936614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 50936306 50936614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 50947932 50948977 Gain and loss Pancreatic cancer SNP array 17952125 OGDHL chr10 50970800 50970860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 51003180 51003251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 51009444 51009776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51040559 51454183 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AGAP8,LOC728407,PARG chr10 51040559 51454183 Copy number Lung cancer - 20668451 AGAP8,LOC728407,PARG chr10 51040559 51454183 Copy number Normal - 20680643 AGAP8,LOC728407,PARG chr10 51040559 51454183 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 AGAP8,LOC728407,PARG chr10 51040559 51454183 Gain or loss Breast cancer - 20668451 AGAP8,LOC728407,PARG chr10 51040559 51454183 Gain or loss Cancer - 20668451 AGAP8,LOC728407,PARG chr10 51040559 51454183 Gain or loss Lung cancer - 20668451 AGAP8,LOC728407,PARG chr10 51040559 51454183 Gain or loss Ovarian cancer - 20668451 AGAP8,LOC728407,PARG chr10 51040559 51454183 Gain or loss Pancreas cancer - 20668451 AGAP8,LOC728407,PARG chr10 51040559 51454183 Gain or loss Prostate cancer - 20668451 AGAP8,LOC728407,PARG chr10 51041413 51057774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARG chr10 51053532 51053730 Gain and loss Pancreatic cancer SNP array 17952125 PARG chr10 51053532 51053730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARG chr10 51053532 51053732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARG chr10 51118852 51278775 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP8,LOC728407,PARG chr10 51134157 51156333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARG chr10 51134157 51156333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARG chr10 51158267 51158937 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PARG chr10 51186726 51188224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PARG chr10 51190616 51225615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGAP8,PARG chr10 51202108 51202578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARG chr10 51205132 51205480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARG chr10 51205132 51205480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARG chr10 51215878 51473338 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGAP7,AGAP8,LOC728407,PARG chr10 51219559 51232596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP8,PARG chr10 51219559 51232596 Gain and loss Pancreatic cancer SNP array 17952125 AGAP8,PARG chr10 51219559 51232596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP8,PARG chr10 51235220 51260738 Gain or loss Breast cancer - 20668451 AGAP8,LOC728407,PARG chr10 51235220 51260738 Gain or loss Cancer - 20668451 AGAP8,LOC728407,PARG chr10 51235220 51260738 Gain or loss Lung cancer - 20668451 AGAP8,LOC728407,PARG chr10 51235220 51260738 Gain or loss Ovarian cancer - 20668451 AGAP8,LOC728407,PARG chr10 51235220 51260738 Gain or loss Pancreas cancer - 20668451 AGAP8,LOC728407,PARG chr10 51235220 51260738 Gain or loss Prostate cancer - 20668451 AGAP8,LOC728407,PARG chr10 51235220 51260738 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 AGAP8,LOC728407,PARG chr10 51235233 51260738 Gain and loss Pancreatic cancer SNP array 17952125 AGAP8,LOC728407,PARG chr10 51235233 51260740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP8,LOC728407,PARG chr10 51235233 51260740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP8,LOC728407,PARG chr10 5125598 5125736 Gain and loss Pancreatic cancer SNP array 17952125 AKR1C3 chr10 5125598 5125736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1C3 chr10 51262096 51293344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728407,PARG chr10 51262096 51293344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728407,PARG chr10 51262096 51293396 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC728407,PARG chr10 51262096 51293396 Gain and loss Pancreatic cancer SNP array 17952125 LOC728407,PARG chr10 51262289 51262471 Gain and loss Pancreatic cancer SNP array 17952125 LOC728407,PARG chr10 5126568 5139872 Gain and loss Pancreatic cancer SNP array 17952125 AKR1C3 chr10 5126583 5139878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKR1C3 chr10 5126583 5139878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1C3 chr10 51281030 51281230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728407,PARG chr10 51281032 51281230 Gain and loss Pancreatic cancer SNP array 17952125 LOC728407,PARG chr10 51281032 51281230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728407,PARG chr10 51293589 51377667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728407,PARG chr10 51293589 51377667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728407,PARG chr10 51324983 51325313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728407,PARG chr10 51355926 51834294 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-645K arrays 21546498 AGAP6,AGAP7,FAM21A,FLJ31813,LOC728407,MSMB,NCOA4,PARG,TIMM23 chr10 51385774 51386819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 51392922 51595172 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP7,MSMB,NCOA4,TIMM23 chr10 51398379 51398687 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 51398379 51398687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 51398379 51398687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51401190 51403098 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 51401190 51403098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 51401190 51403098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51409431 51409546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51418356 51440263 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 51418356 51440265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51418356 51440265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51447501 51450500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 51450501 51566250 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP7,MSMB,NCOA4 chr10 51454901 51457129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51454901 51457129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51477968 51493142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP7 chr10 51497690 51563269 Gain and loss Pancreatic cancer SNP array 17952125 MSMB chr10 51497690 51563272 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSMB chr10 51497690 51563272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSMB chr10 51497690 51563272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSMB chr10 51533837 51533837 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr10 5154279 5167418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51566251 51606000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA4,TIMM23 chr10 51575852 51585851 Loss Normal TaqMan assays 20972442 NCOA4 chr10 51580154 51581065 Gain Normal 244K array 17666407 NCOA4 chr10 51580369 51582053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCOA4 chr10 51580369 51582053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOA4 chr10 51582787 51867320 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 AGAP6,FAM21A,FAM21B,FLJ31813,NCOA4,TIMM23 chr10 51606001 51664250 Copy number Normal ReadDepth: A Parallel R Package 21305028 TIMM23 chr10 51617078 51678376 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TIMM23 chr10 51617078 51678376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIMM23 chr10 51617078 51678376 Gain and loss Pancreatic cancer SNP array 17952125 TIMM23 chr10 51617078 51678376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIMM23 chr10 5164026 5164126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 51672210 61490637 Gain Autism - 20841430 A1CF,AGAP6,ASAH2,ASAH2B,BICC1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,FAM21A,FAM21B,FLJ31813,IPMK,LOC100506939,MBL2,MIR3924,MIR605,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,SGMS1,SLC16A9,TFAM,UBE2D1,ZWINT chr10 51684351 52549351 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGAP6,ASAH2,ASAH2B,FAM21A,FAM21B,FLJ31813,SGMS1 chr10 51691896 51721620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 51694744 51696581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 51735352 52053743 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AGAP6,ASAH2,FAM21A,FAM21B,FLJ31813 chr10 51735352 52053743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP6,ASAH2,FAM21A,FAM21B,FLJ31813 chr10 51735352 52053743 Gain and loss Pancreatic cancer SNP array 17952125 AGAP6,ASAH2,FAM21A,FAM21B,FLJ31813 chr10 51735352 52053743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP6,ASAH2,FAM21A,FAM21B,FLJ31813 chr10 5175582 5187881 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr10 51764304 51765882 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AGAP6 chr10 51764304 51765882 Gain and loss Pancreatic cancer SNP array 17952125 AGAP6 chr10 51822772 51824327 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ31813 chr10 51822772 51824327 Gain and loss Pancreatic cancer SNP array 17952125 FLJ31813 chr10 5186335 5217144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1CL1 chr10 5186335 5317975 Gain and loss Pancreatic cancer SNP array 17952125 AKR1C4,AKR1CL1 chr10 5192105 5314761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKR1C4,AKR1CL1 chr10 5193819 5217067 Gain and loss Pancreatic cancer SNP array 17952125 AKR1CL1 chr10 51981152 53446292 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 A1CF,ASAH2,ASAH2B,MIR605,PRKG1,SGMS1 chr10 52015315 52015409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 52015315 52015409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5201749 5201833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKR1CL1 chr10 52020418 52020477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 52041194 52067337 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SGMS1 chr10 52052501 52055000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 52059293 52059946 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 52059298 52060841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 52061462 52063834 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 52087501 52129000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SGMS1 chr10 52088295 52090238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52089296 52089787 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SGMS1 chr10 52089296 52089787 Gain and loss Pancreatic cancer SNP array 17952125 SGMS1 chr10 52089296 52089787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52092554 52092654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGMS1 chr10 52106679 52115825 Gain and loss Pancreatic cancer SNP array 17952125 SGMS1 chr10 52109357 52116092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52125358 52125747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52135146 52138672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52156708 52157735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52156708 52157735 Gain and loss Pancreatic cancer SNP array 17952125 SGMS1 chr10 52156708 52157735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52169084 52186954 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SGMS1 chr10 52169084 52186954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52169084 52186954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52169713 52184575 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SGMS1 chr10 52192189 52192289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGMS1 chr10 5219780 5265101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AKR1C4,AKR1CL1 chr10 52236328 52315441 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SGMS1 chr10 52236328 52315441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52236328 52315441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGMS1 chr10 52236337 52315441 Gain and loss Pancreatic cancer SNP array 17952125 SGMS1 chr10 52238591 52238806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGMS1 chr10 5227426 5250912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKR1C4 chr10 5227426 5250912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1C4 chr10 5228798 5250912 Gain and loss Pancreatic cancer SNP array 17952125 AKR1C4 chr10 52313829 53768264 Deletion Cancer Affymetrix 250K Sty array 20164920 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1,SGMS1 chr10 52314091 53747935 Deletion Normal Arbitrated Peel-off 21527027 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1,SGMS1 chr10 52314091 53747935 Deletion Normal GeneGISTIC 21527027 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1,SGMS1 chr10 52314091 53747935 Deletion Normal Standard peel-off 21527027 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1,SGMS1 chr10 52369417 52553087 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ASAH2B,SGMS1 chr10 52383617 52383717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGMS1 chr10 5238654 5238756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 52388584 52389976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 5239132 5239705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1C4 chr10 52392759 52393124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5239893 5240994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKR1C4 chr10 52420950 53725280 Copy number Ollier disease Affymetrix SNP 6.0 array 21235737 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1 chr10 52421124 53728116 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1 chr10 52421124 53728116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1 chr10 52421124 53728116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1 chr10 52421145 53723666 Gain and loss Pancreatic cancer SNP array 17952125 A1CF,ASAH2B,CSTF2T,MIR605,PRKG1 chr10 52453706 52563182 Gain aortic dissecting aneurysms Array-CGH 22263138 A1CF,ASAH2B chr10 52453706 52563182 Gain Stenocardia MACArray Karyo 47K BAC-chips 21860640 A1CF,ASAH2B chr10 52453706 52563182 Gain Vasospasm MACArray Karyo 47K BAC-chips 21860640 A1CF,ASAH2B chr10 52498121 52807142 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 A1CF,ASAH2B,PRKG1 chr10 5250689 5292665 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AKR1C4 chr10 5264001 5291516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 52643305 52992342 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 A1CF,PRKG1 chr10 52645034 52645119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 A1CF chr10 52678272 52678372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 52729339 52729421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 52749673 52750426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 52749673 52750426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5277300 5283345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 52785343 52785413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 52870013 52891499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKG1 chr10 52873683 52884223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKG1 chr10 52873722 52882096 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PRKG1 chr10 52900000 61200000 Deletion Epilepsy ref 20923578 BICC1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,IPMK,LOC100506939,MBL2,MIR3924,MIR605,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,TFAM,UBE2D1,ZWINT chr10 52900000 61200000 Deletion Mental retardation array CGH 17124404 BICC1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,IPMK,LOC100506939,MBL2,MIR3924,MIR605,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,TFAM,UBE2D1,ZWINT chr10 52900000 61200000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 BICC1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,IPMK,LOC100506939,MBL2,MIR3924,MIR605,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,TFAM,UBE2D1,ZWINT chr10 52900000 64500000 Loss Prostate cancer Array CGH 16573809 ANK3,ARID5B,BICC1,C10orf107,C10orf40,CCDC6,CDK1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,IPMK,LOC100506939,M1,MBL2,MIR3924,MIR548AV,MIR605,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,RHOBTB1,RTKN2,SLC16A9,TFAM,TMEM26,UBE2D1,ZNF365,ZWINT chr10 52900000 70600000 Copy number Heart failure - 18772530 ADO,ANK3,ANXA2P3,ARID5B,ATOH7,BICC1,C10orf107,C10orf40,CCAR1,CCDC6,CDK1,CISD1,CSTF2T,CTNNA3,DKK1,DNA2,DNAJC12,EGR2,FAM133CP,FAM13C,HERC4,HNRNPH3,IPMK,JMJD1C,LOC100506939,LOC84989,LRRTM3,M1,MBL2,MIR1296,MIR3924,MIR548AV,MIR605,MTRNR2L5,MYPN,NRBF2,PBLD,PCDH15,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SIRT1,SLC16A9,SLC25A16,SNORD98,STOX1,TET1,TFAM,TMEM26,UBE2D1,ZNF365,ZWINT chr10 52900000 70600000 Copy number Heart failure References 18854381 ADO,ANK3,ANXA2P3,ARID5B,ATOH7,BICC1,C10orf107,C10orf40,CCAR1,CCDC6,CDK1,CISD1,CSTF2T,CTNNA3,DKK1,DNA2,DNAJC12,EGR2,FAM133CP,FAM13C,HERC4,HNRNPH3,IPMK,JMJD1C,LOC100506939,LOC84989,LRRTM3,M1,MBL2,MIR1296,MIR3924,MIR548AV,MIR605,MTRNR2L5,MYPN,NRBF2,PBLD,PCDH15,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SIRT1,SLC16A9,SLC25A16,SNORD98,STOX1,TET1,TFAM,TMEM26,UBE2D1,ZNF365,ZWINT chr10 52900000 70600000 Copy number Hyperglycemia real-time PCR 19060297 ADO,ANK3,ANXA2P3,ARID5B,ATOH7,BICC1,C10orf107,C10orf40,CCAR1,CCDC6,CDK1,CISD1,CSTF2T,CTNNA3,DKK1,DNA2,DNAJC12,EGR2,FAM133CP,FAM13C,HERC4,HNRNPH3,IPMK,JMJD1C,LOC100506939,LOC84989,LRRTM3,M1,MBL2,MIR1296,MIR3924,MIR548AV,MIR605,MTRNR2L5,MYPN,NRBF2,PBLD,PCDH15,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SIRT1,SLC16A9,SLC25A16,SNORD98,STOX1,TET1,TFAM,TMEM26,UBE2D1,ZNF365,ZWINT chr10 52900000 70600000 Copy number Schizophrenia References 19329560 ADO,ANK3,ANXA2P3,ARID5B,ATOH7,BICC1,C10orf107,C10orf40,CCAR1,CCDC6,CDK1,CISD1,CSTF2T,CTNNA3,DKK1,DNA2,DNAJC12,EGR2,FAM133CP,FAM13C,HERC4,HNRNPH3,IPMK,JMJD1C,LOC100506939,LOC84989,LRRTM3,M1,MBL2,MIR1296,MIR3924,MIR548AV,MIR605,MTRNR2L5,MYPN,NRBF2,PBLD,PCDH15,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SIRT1,SLC16A9,SLC25A16,SNORD98,STOX1,TET1,TFAM,TMEM26,UBE2D1,ZNF365,ZWINT chr10 52900000 97000000 Gain Endometrioid adenocarcinoma CGH 16974079 ACTA2,ADAMTS14,ADK,ADO,AGAP11,AGAP5,AIFM2,ANAPC16,ANK3,ANKRD1,ANKRD22,ANXA11,ANXA2P3,ANXA7,AP3M1,ARID5B,ASCC1,ATAD1,ATOH7,BICC1,BMPR1A,BMS1P4,BTAF1,C10orf105,C10orf107,C10orf11,C10orf116,C10orf129,C10orf35,C10orf40,C10orf54,C10orf55,C10orf57,C10orf99,CAMK2G,CCAR1,CCDC6,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHCHD1,CHST3,CISD1,COL13A1,COMTD1,CPEB3,CSTF2T,CTNNA3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DDIT4,DDX21,DDX50,DKK1,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,DYDC1,DYDC2,ECD,EGR2,EIF4EBP2,EIF5AL1,EXOC6,FAM133CP,FAM13C,FAM149B1,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,FUT11,GHITM,GLUD1,GLUD1P3,GRID1,GRID1-AS1,H2AFY2,HECTD2,HELLS,HERC4,HHEX,HK1,HKDC1,HNRNPH3,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IPMK,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1279,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100188947,LOC100288974,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC283050,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728978,LOC84989,LRIT1,LRIT2,LRRC20,LRRTM3,M1,MARCH5,MARK2P9,MAT1A,MBL1P,MBL2,MCU,MICU1,MINPP1,MIR107,MIR1256,MIR1296,MIR346,MIR3924,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR548AV,MIR605,MMRN2,MRPS16,MSS51,MTRNR2L5,MYOF,MYOZ1,MYPN,NDST2,NEUROG3,NOC3L,NODAL,NPFFR1,NRBF2,NRG3,NUDT13,NUDT9P1,O3FAR1,OIT3,OPN4,P4HA1,PALD1,PANK1,PAPSS2,PBLD,PCBD1,PCDH15,PCGF5,PDE6C,PDLIM1,PHYHIPL,PIPSL,PLA2G12B,PLAC9,PLAU,PLCE1,POLR3A,PPA1,PPIF,PPP1R3C,PPP3CB,PRF1,PRKG1,PSAP,PTEN,RBP4,REEP3,RGR,RHOBTB1,RNLS,RPP30,RPS24,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGPL1,SH2D4B,SIRT1,SLC16A12,SLC16A9,SLC25A16,SLC29A3,SLC35G1,SNCG,SNORD98,SPOCK2,SRGN,STAMBPL1,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TBC1D12,TET1,TFAM,TMEM26,TNKS2,TSPAN14,TSPAN15,TTC18,TYSND1,UBE2D1,UNC5B,USP54,VCL,VDAC2,VPS26A,WAPAL,ZCCHC24,ZMIZ1,ZNF365,ZNF503,ZNF503-AS1,ZNF503-AS2,ZWINT chr10 52903629 52903743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 52924894 53083883 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR605,PRKG1 chr10 52980195 52984610 Deletion Normal Standard GISTIC 21527027 PRKG1 chr10 52993203 52993295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 53016877 53074019 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 MIR605,PRKG1 chr10 53026770 53045426 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 PRKG1 chr10 53068329 53245908 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PRKG1 chr10 53069509 53069598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKG1 chr10 53077476 53077626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 5309096 5320442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 53125251 53129361 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 PRKG1 chr10 53125253 53129357 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKG1 chr10 53125253 53129357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKG1 chr10 53125253 53129357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKG1 chr10 53127465 53129315 Gain and loss Pancreatic cancer SNP array 17952125 PRKG1 chr10 53140007 53446292 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PRKG1 chr10 53191150 53254240 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRKG1 chr10 53196215 53264976 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRKG1 chr10 53248477 53248805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKG1 chr10 53259890 53269267 Gain Normal 244K array 17666407 PRKG1 chr10 53287168 53290674 Loss Normal Birdsuite, version 1.5.2 22087296 PRKG1 chr10 53292936 53293166 Loss Normal 244K array 17666407 PRKG1 chr10 53300000 61200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BICC1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,IPMK,LOC100506939,MBL2,MIR3924,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,TFAM,UBE2D1,ZWINT chr10 53300000 61200000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 BICC1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,IPMK,LOC100506939,MBL2,MIR3924,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,TFAM,UBE2D1,ZWINT chr10 53300000 61200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BICC1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,IPMK,LOC100506939,MBL2,MIR3924,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,TFAM,UBE2D1,ZWINT chr10 53300000 61200000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 BICC1,CISD1,CSTF2T,DKK1,FAM133CP,FAM13C,IPMK,LOC100506939,MBL2,MIR3924,MTRNR2L5,PCDH15,PHYHIPL,PRKG1,TFAM,UBE2D1,ZWINT chr10 53300000 71300000 Amplification Esophageal squamous carcinoma CGH 21637470 ADO,ANK3,ANXA2P3,ARID5B,ATOH7,BICC1,C10orf107,C10orf40,CCAR1,CCDC6,CDK1,CISD1,CSTF2T,CTNNA3,DDX21,DDX50,DKK1,DNA2,DNAJC12,EGR2,FAM133CP,FAM13C,HERC4,HK1,HKDC1,HNRNPH3,IPMK,JMJD1C,KIAA1279,LOC100506939,LOC84989,LRRTM3,M1,MBL2,MIR1296,MIR3924,MIR548AV,MTRNR2L5,MYPN,NRBF2,PBLD,PCDH15,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SIRT1,SLC16A9,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TFAM,TMEM26,TSPAN15,UBE2D1,VPS26A,ZNF365,ZWINT chr10 53300000 71300000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ADO,ANK3,ANXA2P3,ARID5B,ATOH7,BICC1,C10orf107,C10orf40,CCAR1,CCDC6,CDK1,CISD1,CSTF2T,CTNNA3,DDX21,DDX50,DKK1,DNA2,DNAJC12,EGR2,FAM133CP,FAM13C,HERC4,HK1,HKDC1,HNRNPH3,IPMK,JMJD1C,KIAA1279,LOC100506939,LOC84989,LRRTM3,M1,MBL2,MIR1296,MIR3924,MIR548AV,MTRNR2L5,MYPN,NRBF2,PBLD,PCDH15,PHYHIPL,PRKG1,REEP3,RHOBTB1,RTKN2,RUFY2,SIRT1,SLC16A9,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TFAM,TMEM26,TSPAN15,UBE2D1,VPS26A,ZNF365,ZWINT chr10 53300000 82000000 Deletion,duplication Usher syndrome array 20538994 ADAMTS14,ADK,ADO,AGAP5,AIFM2,ANAPC16,ANK3,ANXA11,ANXA2P3,ANXA7,AP3M1,ARID5B,ASCC1,ATOH7,BICC1,BMS1P4,C10orf105,C10orf107,C10orf11,C10orf35,C10orf40,C10orf54,C10orf55,C10orf57,CAMK2G,CCAR1,CCDC6,CDH23,CDK1,CHCHD1,CHST3,CISD1,COL13A1,COMTD1,CSTF2T,CTNNA3,DDIT4,DDX21,DDX50,DKK1,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,EGR2,EIF4EBP2,EIF5AL1,FAM133CP,FAM13C,FAM149B1,FUT11,GLUD1P3,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,IPMK,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1279,LOC100128292,LOC100132987,LOC100288974,LOC100506939,LOC100507331,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,LOC728978,LOC84989,LRRC20,LRRTM3,M1,MBL1P,MBL2,MCU,MICU1,MIR1256,MIR1296,MIR3924,MIR4676,MIR548AV,MRPS16,MSS51,MTRNR2L5,MYOZ1,MYPN,NDST2,NEUROG3,NODAL,NPFFR1,NRBF2,NUDT13,OIT3,P4HA1,PALD1,PBLD,PCBD1,PCDH15,PHYHIPL,PLA2G12B,PLAC9,PLAU,POLR3A,PPA1,PPIF,PPP3CB,PRF1,PRKG1,PSAP,REEP3,RHOBTB1,RPS24,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGPL1,SIRT1,SLC16A9,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TET1,TFAM,TMEM26,TSPAN15,TTC18,TYSND1,UBE2D1,UNC5B,USP54,VCL,VDAC2,VPS26A,ZCCHC24,ZMIZ1,ZNF365,ZNF503,ZNF503-AS1,ZNF503-AS2,ZWINT chr10 53300000 82000000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ADAMTS14,ADK,ADO,AGAP5,AIFM2,ANAPC16,ANK3,ANXA11,ANXA2P3,ANXA7,AP3M1,ARID5B,ASCC1,ATOH7,BICC1,BMS1P4,C10orf105,C10orf107,C10orf11,C10orf35,C10orf40,C10orf54,C10orf55,C10orf57,CAMK2G,CCAR1,CCDC6,CDH23,CDK1,CHCHD1,CHST3,CISD1,COL13A1,COMTD1,CSTF2T,CTNNA3,DDIT4,DDX21,DDX50,DKK1,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,EGR2,EIF4EBP2,EIF5AL1,FAM133CP,FAM13C,FAM149B1,FUT11,GLUD1P3,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,IPMK,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1279,LOC100128292,LOC100132987,LOC100288974,LOC100506939,LOC100507331,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,LOC728978,LOC84989,LRRC20,LRRTM3,M1,MBL1P,MBL2,MCU,MICU1,MIR1256,MIR1296,MIR3924,MIR4676,MIR548AV,MRPS16,MSS51,MTRNR2L5,MYOZ1,MYPN,NDST2,NEUROG3,NODAL,NPFFR1,NRBF2,NUDT13,OIT3,P4HA1,PALD1,PBLD,PCBD1,PCDH15,PHYHIPL,PLA2G12B,PLAC9,PLAU,POLR3A,PPA1,PPIF,PPP3CB,PRF1,PRKG1,PSAP,REEP3,RHOBTB1,RPS24,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGPL1,SIRT1,SLC16A9,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TET1,TFAM,TMEM26,TSPAN15,TTC18,TYSND1,UBE2D1,UNC5B,USP54,VCL,VDAC2,VPS26A,ZCCHC24,ZMIZ1,ZNF365,ZNF503,ZNF503-AS1,ZNF503-AS2,ZWINT chr10 53300000 98000000 Deletion,duplication Usher syndrome array 20538994 ACTA2,ADAMTS14,ADK,ADO,AGAP11,AGAP5,AIFM2,ALDH18A1,ANAPC16,ANK3,ANKRD1,ANKRD22,ANXA11,ANXA2P3,ANXA7,AP3M1,ARID5B,ASCC1,ATAD1,ATOH7,BICC1,BLNK,BMPR1A,BMS1P4,BTAF1,C10orf105,C10orf107,C10orf11,C10orf116,C10orf129,C10orf131,C10orf35,C10orf40,C10orf54,C10orf55,C10orf57,C10orf99,CAMK2G,CC2D2B,CCAR1,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHCHD1,CHST3,CISD1,COL13A1,COMTD1,CPEB3,CSTF2T,CTNNA3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DDIT4,DDX21,DDX50,DKK1,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,DYDC1,DYDC2,ECD,EGR2,EIF4EBP2,EIF5AL1,ENTPD1,EXOC6,FAM133CP,FAM13C,FAM149B1,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,FUT11,GHITM,GLUD1,GLUD1P3,GRID1,GRID1-AS1,H2AFY2,HECTD2,HELLS,HERC4,HHEX,HK1,HKDC1,HNRNPH3,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IPMK,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1279,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100188947,LOC100288974,LOC100506939,LOC100507331,LOC170425,LOC219347,LOC283050,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC728978,LOC84989,LRIT1,LRIT2,LRRC20,LRRTM3,M1,MARCH5,MARK2P9,MAT1A,MBL1P,MBL2,MCU,MICU1,MINPP1,MIR107,MIR1256,MIR1296,MIR3157,MIR346,MIR3924,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR548AV,MMRN2,MRPS16,MSS51,MTRNR2L5,MYOF,MYOZ1,MYPN,NDST2,NEUROG3,NOC3L,NODAL,NPFFR1,NRBF2,NRG3,NUDT13,NUDT9P1,O3FAR1,OIT3,OPN4,P4HA1,PALD1,PANK1,PAPSS2,PBLD,PCBD1,PCDH15,PCGF5,PDE6C,PDLIM1,PHYHIPL,PIPSL,PLA2G12B,PLAC9,PLAU,PLCE1,POLR3A,PPA1,PPIF,PPP1R3C,PPP3CB,PRF1,PRKG1,PSAP,PTEN,RBP4,REEP3,RGR,RHOBTB1,RNLS,RPP30,RPS24,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGPL1,SH2D4B,SIRT1,SLC16A12,SLC16A9,SLC25A16,SLC29A3,SLC35G1,SNCG,SNORD98,SORBS1,SPOCK2,SRGN,STAMBPL1,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TBC1D12,TCTN3,TET1,TFAM,TMEM26,TNKS2,TSPAN14,TSPAN15,TTC18,TYSND1,UBE2D1,UNC5B,USP54,VCL,VDAC2,VPS26A,WAPAL,ZCCHC24,ZMIZ1,ZNF365,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZWINT chr10 53315766 53315858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 5331747 5331873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 5331747 5331873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5336394 5336828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5337351 6259241 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ANKRD16,ASB13,CALML3,CALML5,FAM208B,FBXO18,GDI2,IL15RA,IL2RA,MIR3155A,MIR3155B,NET1,PFKFB3,RBM17,TUBAL3,UCN3 chr10 53377917 53463422 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 CSTF2T,PRKG1 chr10 53396417 53396449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 53402176 53673530 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CSTF2T,PRKG1 chr10 53411118 53411213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 53423488 53423588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 53428893 53789886 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CSTF2T,PRKG1 chr10 53438962 53439062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 5344491 5344591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 53451359 53711063 Copy number loss Normal High-resolution SNP genotyping 21211785 CSTF2T,PRKG1 chr10 53458887 53481125 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CSTF2T,PRKG1 chr10 53460335 53711063 Copy number loss Normal High-resolution SNP genotyping 21211785 PRKG1 chr10 53497674 53497991 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKG1 chr10 53498736 53498786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKG1 chr10 53539485 53540053 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKG1 chr10 53551137 53591465 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRKG1 chr10 5355696 5355774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 53613893 56371426 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DKK1,LOC100506939,MBL2,PCDH15,PRKG1 chr10 53624371 53624451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 53639426 53653390 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 PRKG1 chr10 53651276 53712562 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 PRKG1 chr10 53654277 53703952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKG1 chr10 53685667 53688334 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PRKG1 chr10 53685743 53688263 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PRKG1 chr10 53685743 53688263 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 PRKG1 chr10 53686068 53686625 Deletion Medulloblastoma Illumina SNP arrays 21163964 PRKG1 chr10 53738743 53739189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKG1 chr10 53744046 53747423 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PRKG1 chr10 53744046 53747423 Gain or loss Breast cancer - 20668451 PRKG1 chr10 53744046 53747423 Gain or loss Cancer - 20668451 PRKG1 chr10 53744046 53747423 Gain or loss Lung cancer - 20668451 PRKG1 chr10 53744046 53747423 Gain or loss Ovarian cancer - 20668451 PRKG1 chr10 53744046 53747423 Gain or loss Pancreas cancer - 20668451 PRKG1 chr10 53744046 53747423 Gain or loss Prostate cancer - 20668451 PRKG1 chr10 53744047 53747422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKG1 chr10 53744047 53747422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKG1 chr10 53744064 53747140 Gain and loss Pancreatic cancer SNP array 17952125 PRKG1 chr10 53782519 53782600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 53796569 53813059 Loss Normal Birdsuite, version 1.5.2 22087296 PRKG1 chr10 53818872 53819251 Gain and loss Pancreatic cancer SNP array 17952125 PRKG1 chr10 53818872 53819251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKG1 chr10 53840901 53843258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKG1 chr10 53860341 53860420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKG1 chr10 53862169 53862368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 53862443 53862621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 53968988 53969083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 5396976 5406169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5396976 5406169 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 5396976 5406169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 54000913 54000995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKG1 chr10 54021111 54097557 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DKK1,LOC100506939,PRKG1 chr10 54101180 54101280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 54109101 54113000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 54111203 54111519 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 541380 544336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIP2C chr10 54174055 54595324 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MBL2 chr10 541873 818440 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 C10orf108,DIP2C,MIR5699 chr10 54195149 54201466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 54195149 54201466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 54195149 54201466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 54198467 54198567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 54217720 54217820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5425062 5436795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBAL3 chr10 5425062 5436795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBAL3 chr10 5425480 5436795 Gain and loss Pancreatic cancer SNP array 17952125 TUBAL3 chr10 5425682 5425682 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr10 54282373 54282466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 54282373 54282467 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 54282373 54282469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 54378775 54378875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 54400000 56790000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 MBL2,PCDH15 chr10 5444518 5490401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NET1,TUBAL3 chr10 5444518 5490401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NET1,TUBAL3 chr10 5444562 5490401 Gain and loss Pancreatic cancer SNP array 17952125 NET1,TUBAL3 chr10 54450683 58765948 Deletion Autism Illumina HumanHap557 BeadChip 20858243 MBL2,MTRNR2L5,PCDH15,ZWINT chr10 54453549 54458834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 54454501 54458500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 54466699 54466919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 54467009 54467203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 54468051 54468310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 54500705 54500805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 54530817 54531135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MBL2 chr10 5455040 5455072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NET1 chr10 54588936 54590136 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr10 54599564 54607902 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 54599564 54607902 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 54625521 54650612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 5467596 5467691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NET1 chr10 54677150 54677250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 54688737 54688975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 54732383 54798324 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 54778135 56318960 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 PCDH15 chr10 54805781 54805947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 54807165 54812107 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 54807251 55878742 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH15 chr10 54807367 54812107 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 5486671 5486771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NET1 chr10 54887954 54888041 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 54887954 54888041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5498001 5749000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASB13,CALML3,CALML5,FAM208B,NET1 chr10 55030618 55172651 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 55030618 55256936 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 55040797 55135015 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 55042011 55126982 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 55047624 55129287 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 55047624 55135015 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 55049725 55126982 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 55049725 55127241 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 55049725 55133948 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 55084137 55135015 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 55091025 55091109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 55109792 55109892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5512917 5513002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 5512917 5513045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 55159421 55159607 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 55166843 55166937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 55189171 55614635 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 PCDH15 chr10 55196166 55196380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 55232537 57057708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCDH15 chr10 55232537 57057708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH15 chr10 55250865 57057708 Amplification Usher syndrome MLPA and array-CGH 20538994 PCDH15 chr10 55250865 57057708 Deletion Usher type I cohort multiplex ligation-dependent probe amplification(MLPA) has been designed by MRC-Holland 21436283 PCDH15 chr10 55250865 57057708 Deletion Usher type I cohort The quantitative multiplex PCR of short fluorescent fragments (QMPSF) and semiquantitative nonfluorescent multiplex PCR 17277737 PCDH15 chr10 55250865 57057708 Insertion Usher type I cohort multiplex ligation-dependent probe amplification(MLPA) has been designed by MRC-Holland 21436283 PCDH15 chr10 55250866 56231057 Gain and loss Pancreatic cancer SNP array 17952125 PCDH15 chr10 55251956 55251956 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr10 55291330 55291423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5529614 5544958 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CALML5 chr10 5530660 5531518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5530660 5531518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5530961 5531401 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 55322850 55358166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 5537117 5542397 Loss Normal 244K array 17666407 CALML5 chr10 55388079 55388179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 55395747 55395833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 5546207 5555140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5546207 5555140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 554975 556064 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DIP2C chr10 55563672 55564123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH15 chr10 5556924 5558225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5556924 5558225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 5556924 5558225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 55628263 55628553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH15 chr10 55700129 55744578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCDH15 chr10 55823642 55856932 Gain Normal Birdsuite, version 1.5.2 22087296 PCDH15 chr10 55853035 55854376 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH15 chr10 55903231 55903306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 55911196 56371426 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH15 chr10 5591305 5591399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 55922810 55922910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 5592378 5594500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 55943495 56149790 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PCDH15 chr10 55973931 56018722 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCDH15 chr10 55983135 55983268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56020258 56418998 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 PCDH15 chr10 56029444 56030449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH15 chr10 56037640 56037723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH15 chr10 56038432 56038532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56057767 59572667 LOH Normal High-resolution SNP genotyping 21211785 MIR3924,MTRNR2L5,PCDH15,ZWINT chr10 56078033 56236143 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PCDH15 chr10 56115927 56139976 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PCDH15 chr10 56118212 56118474 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PCDH15 chr10 56118662 56139578 Gain Normal 244K array 17666407 PCDH15 chr10 56120314 56120633 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PCDH15 chr10 56122955 56138443 Gain Normal Birdsuite, version 1.5.2 22087296 PCDH15 chr10 56132619 56132719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56140084 56140316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56140313 56140417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56147767 56147822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56148428 56359760 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 PCDH15 chr10 56161598 56546384 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PCDH15 chr10 56187034 56187346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH15 chr10 5620282 5620361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5626001 5679100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 56264196 56264296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 5627105 5677110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 56278447 56364745 Copy number loss Normal High-resolution SNP genotyping 21211785 PCDH15 chr10 56306736 56306836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56315824 56315998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH15 chr10 56331168 56568428 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH15 chr10 56352785 56354364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH15 chr10 56352786 56354292 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PCDH15 chr10 56353096 56362605 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PCDH15 chr10 56353096 56362605 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PCDH15 chr10 56367936 56368060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH15 chr10 56367946 56368018 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PCDH15 chr10 56379602 56379702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56396946 56427647 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 PCDH15 chr10 56417089 56417187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56422031 56422126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 56466842 56466942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH15 chr10 5648136 5648236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 56503549 56781399 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PCDH15 chr10 56518797 60710738 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BICC1,CISD1,FAM133CP,IPMK,MIR3924,MTRNR2L5,PCDH15,TFAM,UBE2D1,ZWINT chr10 56576184 56576284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 56577243 56577343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 56617730 56666724 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 56625929 56665816 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 56625929 56666724 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 56625929 56671001 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 56631466 56665816 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 56640222 56976835 Loss small cell lung cancer Real-time Quantitative PCR 17426248 NOT_FOUND chr10 5673813 5673913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5677111 5844786 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ASB13,FAM208B,GDI2 chr10 5677111 5844786 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB13,FAM208B,GDI2 chr10 56849158 56852828 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 56852828 56853055 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 56876208 57348184 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-646K arrays 21546498 NOT_FOUND chr10 56887586 56983615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 56889479 56961505 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 56889521 56961546 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 56902147 56902375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 56902355 56902544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5691292 5691369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASB13 chr10 56936370 57214793 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 56962466 57253933 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 56997505 56997606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 56997505 56997606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 57027564 57027936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 57027584 57027654 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 57027584 57027654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 57027674 57027936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 57028635 57028703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 57028635 57028703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 57046546 57046646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57053760 57054251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 5705464 5757133 Gain Normal Birdsuite, version 1.5.2 22087296 ASB13,FAM208B chr10 5706900 5707095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB13 chr10 57097107 57097972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 57097113 57098092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 57101621 57101696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57103478 57103578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57105869 57401607 Copy number loss Normal High-resolution SNP genotyping 21211785 MTRNR2L5 chr10 57106411 57106464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57109213 57397936 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MTRNR2L5 chr10 57125299 57125644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 5713432 5713722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5713434 5713724 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 5713434 5713724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5714923 5748532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM208B chr10 5714923 5748532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM208B chr10 57165247 57165335 Deletion Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr10 57203760 58367659 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 MTRNR2L5,ZWINT chr10 5720837 5748520 Gain and loss Pancreatic cancer SNP array 17952125 FAM208B chr10 57240424 59154186 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR3924,MTRNR2L5,ZWINT chr10 57240782 57997858 LOH Normal High-resolution SNP genotyping 21211785 MTRNR2L5 chr10 57299434 57966245 LOH Normal High-resolution SNP genotyping 21211785 MTRNR2L5 chr10 57307154 57312279 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 57308382 57308482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57313770 57349118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 57328137 58623997 LOH Normal High-resolution SNP genotyping 21211785 MTRNR2L5,ZWINT chr10 57340231 58486574 LOH Normal High-resolution SNP genotyping 21211785 MTRNR2L5,ZWINT chr10 57372032 57372371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 57390944 57390989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57418880 57418980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57485108 59373358 Loss small cell lung cancer Real-time Quantitative PCR 17426248 MIR3924,ZWINT chr10 5749294 5806171 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM208B chr10 57553354 57981522 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 57570626 57968944 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr10 57575443 57575543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57619716 57619816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57665722 57693322 Copy number Schizophrenia - 18511947 NOT_FOUND chr10 5766807 5846949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM208B,GDI2 chr10 57671493 57671576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 576921 577035 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIP2C chr10 57759646 57759686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57787205 57791029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 57787205 57791040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 57787205 57791040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 57787205 57791040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 57788400 57789536 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 5779060 5806171 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM208B chr10 57810962 57856511 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 57902458 57902558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5791650 6560590 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD16,FAM208B,FBXO18,GDI2,IL15RA,IL2RA,LOC399715,MIR3155A,MIR3155B,PFKFB3,PRKCQ,RBM17 chr10 5791650 7313507 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD16,FAM208B,FBXO18,GDI2,IL15RA,IL2RA,LOC100507127,LOC399715,LOC439949,MIR3155A,MIR3155B,PFKFB3,PRKCQ,RBM17,SFMBT2 chr10 57926771 59348401 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-649K arrays 21546498 MIR3924,ZWINT chr10 5794635 5794735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM208B chr10 57974627 57974841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 57984764 127546984 Copy number Lung cancer paired-end sequencing 18438408 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,AIFM2,ALDH18A1,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARID5B,ARL3,ARMS2,AS3MT,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BICC1,BLNK,BLOC1S2,BMPR1A,BMS1P4,BTAF1,BTBD16,BTRC,BUB3,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf54,C10orf55,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHCHD1,CHST15,CHST3,CHUK,CISD1,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTBP2,CTNNA3,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DPCD,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,ECD,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46361,FRA10AC1,FRAT1,FRAT2,FUT11,GBF1,GFRA1,GHITM,GLUD1,GLUD1P3,GOLGA7B,GOT1,GPAM,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5F,IPMK,ITPRIP,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC399815,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC728978,LOC729020,LOC84989,LOXL4,LRIT1,LRIT2,LRRC20,LRRTM3,LZTS2,M1,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,MCU,METTL10,MGEA5,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR3924,MIR3941,MIR4295,MIR4296,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR548AV,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSS51,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OIT3,OPALIN,OPN4,P4HA1,PALD1,PANK1,PAPSS2,PAX2,PBLD,PCBD1,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP3CB,PPRC1,PRDX3,PRF1,PRLHR,PSAP,PSD,PSTK,PTEN,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,REEP3,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SRGN,STAMBPL1,STOX1,SUFU,SUPV3L1,SYNPO2L,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TYSND1,UBE2D1,UBTD1,UNC5B,UROS,USMG5,USP54,VAX1,VCL,VDAC2,VPS26A,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF365,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZRANB1,ZWINT chr10 57989564 69900014 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ADO,ANK3,ANXA2P3,ARID5B,BICC1,C10orf107,C10orf40,CCDC6,CDK1,CISD1,CTNNA3,DNAJC12,EGR2,FAM133CP,FAM13C,HERC4,IPMK,JMJD1C,LOC84989,LRRTM3,M1,MIR1296,MIR3924,MIR548AV,MYPN,NRBF2,PHYHIPL,REEP3,RHOBTB1,RTKN2,SIRT1,SLC16A9,TFAM,TMEM26,UBE2D1,ZNF365,ZWINT chr10 58011265 58747342 LOH Normal High-resolution SNP genotyping 21211785 ZWINT chr10 58011265 59555336 LOH Normal High-resolution SNP genotyping 21211785 MIR3924,ZWINT chr10 58012148 58623650 LOH Normal High-resolution SNP genotyping 21211785 ZWINT chr10 5802693 5803011 Gain Autism 1M Ailent CGH whole-genome array 21865298 FAM208B chr10 58063458 58685951 LOH Normal High-resolution SNP genotyping 21211785 ZWINT chr10 5808904 5845701 Gain and loss Pancreatic cancer SNP array 17952125 GDI2 chr10 58101509 58101715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 58160636 58359959 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 58175731 58175829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58182540 58206045 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 58183659 58186479 Loss Normal 244K array 17666407 NOT_FOUND chr10 58186369 58196856 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 NOT_FOUND chr10 58186381 58196843 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 58233572 58267149 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 58324028 58324106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58394940 59814467 LOH Normal High-resolution SNP genotyping 21211785 MIR3924 chr10 58407269 58441165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 58409439 58421439 Gain Autism qPCR 20531469 NOT_FOUND chr10 5847192 5895379 Gain and loss Pancreatic cancer SNP array 17952125 GDI2 chr10 5847192 5924101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD16,GDI2 chr10 5847192 5924101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD16,GDI2 chr10 58473270 58473370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58500316 58500619 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 58509173 58540509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 58516320 58519894 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 58516544 58516639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58519894 58531511 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 58531701 58535700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 58533554 58533872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 58564819 58607157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 58567824 58607150 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 58567824 58607150 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr10 58572176 58606915 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 58584874 58584914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58591323 58643177 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr10 58622053 58623378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 58653195 60184375 LOH Normal High-resolution SNP genotyping 21211785 CISD1,IPMK,MIR3924,TFAM,UBE2D1 chr10 58669011 58669111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58681953 59547596 LOH Normal High-resolution SNP genotyping 21211785 MIR3924 chr10 58685224 58685565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 58711469 58711565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58723476 58723796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 58726595 58726720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5878820 6526558 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ANKRD16,FBXO18,IL15RA,IL2RA,LOC399715,MIR3155A,MIR3155B,PFKFB3,PRKCQ,RBM17 chr10 58809390 58809470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58825645 60275845 LOH Normal High-resolution SNP genotyping 21211785 BICC1,CISD1,IPMK,MIR3924,TFAM,UBE2D1 chr10 58852354 58896099 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 58877901 58883800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 58879765 58881893 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 58879794 58881845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 58880511 58880997 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 58883681 58883779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58901971 58902209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58919459 58919559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58925067 58925128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 58942923 58943191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 58966701 58967017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 5902448 5902543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 5908371 5952021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD16,FBXO18 chr10 59112265 59112365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 59143996 59619742 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 59192085 59403275 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr10 592002 592302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIP2C chr10 59214388 59489499 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr10 59241226 59810252 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 59242014 59441474 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 59252716 59810252 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 5925517 5970640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD16,FBXO18 chr10 59256278 60340187 LOH Normal High-resolution SNP genotyping 21211785 BICC1,CISD1,IPMK,TFAM,UBE2D1 chr10 5928001 5934700 Deletion Glioma mate-paired sequence 20126413 ANKRD16,FBXO18 chr10 5929563 5932821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD16,FBXO18 chr10 5929565 5932851 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANKRD16,FBXO18 chr10 5929946 5932698 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANKRD16,FBXO18 chr10 59369020 59492201 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 59385061 59386944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59401544 59403417 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 5942898 5971861 Gain and loss Pancreatic cancer SNP array 17952125 FBXO18 chr10 59436038 59469683 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 5943697 5971807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO18 chr10 5943697 5971807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO18 chr10 59482119 59482202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 59502484 59502584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 59536190 59536646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59570658 59692449 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 59575855 61853843 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANK3,BICC1,C10orf40,CCDC6,CISD1,FAM133CP,FAM13C,IPMK,M1,PHYHIPL,SLC16A9,TFAM,UBE2D1 chr10 59625619 59697700 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr10 59625622 59697700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59625622 59697700 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 59625622 59697700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59642446 59642818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59662441 59662541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 59668425 59668527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 59668425 59668527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59698921 59717867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59698921 59717867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 59698921 59717867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 5972200 6019562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO18,IL15RA chr10 5972200 6019562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO18,IL15RA chr10 5972315 6019561 Gain and loss Pancreatic cancer SNP array 17952125 FBXO18,IL15RA chr10 59730225 59730325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 59764745 59800515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 59764774 59800515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59764774 59800515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59811386 59811486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 59815182 59825903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 59815182 59830161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59815182 59830161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 59819408 59819508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 59886 46390804 Copy number Lung cancer paired-end sequencing 18438408 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AGAP4,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALOX5,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,BMS1,C10orf10,C10orf108,C10orf111,C10orf113,C10orf114,C10orf25,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CUBN,CUL2,CXCL12,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FAM21C,FBXO18,FLJ45983,FRMD4A,FXYD4,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HNRNPA3P1,HNRNPF,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100506835,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283033,LOC283070,LOC338579,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC441666,LOC731789,LOC84856,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MARCH8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR4480,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OR13A1,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RASGEF1A,RASSF4,RBM17,RET,RPP38,RSU1,RSU1P2,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TMEM72,TMEM72-AS1,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P chr10 59922329 59922377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 59942910 60258851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CISD1,IPMK,TFAM,UBE2D1 chr10 59942910 60258851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CISD1,IPMK,TFAM,UBE2D1 chr10 59947227 59947686 Loss Normal 244K array 17666407 NOT_FOUND chr10 59950327 59951410 Loss Normal 244K array 17666407 IPMK chr10 59950839 59950909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 60095355 78914295 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ADAMTS14,ADK,ADO,AGAP5,AIFM2,ANAPC16,ANK3,ANXA2P3,ANXA7,AP3M1,ARID5B,ASCC1,ATOH7,BICC1,BMS1P4,C10orf105,C10orf107,C10orf11,C10orf35,C10orf40,C10orf54,C10orf55,CAMK2G,CCAR1,CCDC6,CDH23,CDK1,CHCHD1,CHST3,COL13A1,COMTD1,CTNNA3,DDIT4,DDX21,DDX50,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,EGR2,EIF4EBP2,FAM133CP,FAM13C,FAM149B1,FUT11,GLUD1P3,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1279,LOC100507331,LOC728978,LOC84989,LRRC20,LRRTM3,M1,MCU,MICU1,MIR1256,MIR1296,MIR4676,MIR548AV,MRPS16,MSS51,MYOZ1,MYPN,NDST2,NEUROG3,NODAL,NPFFR1,NRBF2,NUDT13,OIT3,P4HA1,PALD1,PBLD,PCBD1,PHYHIPL,PLA2G12B,PLAU,PPA1,PPP3CB,PRF1,PSAP,REEP3,RHOBTB1,RTKN2,RUFY2,SAMD8,SAR1A,SEC24C,SGPL1,SIRT1,SLC16A9,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TET1,TFAM,TMEM26,TSPAN15,TTC18,TYSND1,UBE2D1,UNC5B,USP54,VCL,VDAC2,VPS26A,ZNF365,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 60100000 65900000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ADO,ANK3,ARID5B,BICC1,C10orf107,C10orf40,CCDC6,CDK1,EGR2,FAM133CP,FAM13C,JMJD1C,LOC84989,M1,MIR1296,MIR548AV,NRBF2,PHYHIPL,REEP3,RHOBTB1,RTKN2,SLC16A9,TFAM,TMEM26,UBE2D1,ZNF365 chr10 60145132 60145207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TFAM chr10 60145320 60146023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFAM chr10 60145651 60179241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TFAM chr10 60223301 60244080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 60270068 61391544 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 BICC1,FAM133CP,FAM13C,PHYHIPL chr10 60276325 60276425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BICC1 chr10 6031259 6060156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL2RA chr10 6031259 6060156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL2RA chr10 60336543 61679119 LOH Normal High-resolution SNP genotyping 21211785 BICC1,CCDC6,FAM133CP,FAM13C,M1,PHYHIPL,SLC16A9 chr10 60341326 60341426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BICC1 chr10 6034340 6060148 Gain and loss Pancreatic cancer SNP array 17952125 IL2RA chr10 60347096 60347196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BICC1 chr10 60359652 60359711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BICC1 chr10 60368083 60368123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BICC1 chr10 60369471 60369558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BICC1 chr10 60376 45965028 Copy number Lung cancer paired-end sequencing 18438408 ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALOX5,ANKRD16,ANKRD26,ANKRD30A,APBB1IP,ARHGAP12,ARHGAP21,ARL5B,ARMC3,ARMC4,ASB13,ATP5C1,BAMBI,BEND7,BMI1,BMS1,C10orf10,C10orf108,C10orf111,C10orf113,C10orf114,C10orf25,C10orf47,C10orf67,C10orf68,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC7,CCNY,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CUBN,CUL2,CXCL12,DCLRE1C,DHTKD1,DIP2C,DNAJC1,EBLN1,ECHDC3,ENKUR,EPC1,FAM107B,FAM171A1,FAM188A,FAM208B,FBXO18,FLJ45983,FRMD4A,FXYD4,FZD8,GAD2,GATA3,GDI2,GJD4,GPR158,GPR158-AS1,GTPBP4,HNRNPA3P1,HNRNPF,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100506835,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283033,LOC283070,LOC338579,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC439949,LOC439950,LOC441666,LOC731789,LOC84856,LRRC37A6P,LYZL1,LYZL2,MAP3K8,MARCH8,MASTL,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR4480,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR938,MKX,MLLT10,MPP7,MRC1,MSRB2,MTPAP,MTRNR2L7,MYO3A,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OLAH,OPTN,OR13A1,OTUD1,PARD3,PDSS1,PFKFB3,PFKP,PHYH,PIP4K2A,PITRM1,PLXDC2,PRKCQ,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,RAB18,RASGEF1A,RASSF4,RBM17,RET,RPP38,RSU1,RSU1P2,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,TAF3,TAKR,THNSL1,TMEM236,TMEM72,TMEM72-AS1,TRDMT1,TUBAL3,TUBB8,UCMA,UCN3,UPF2,USP6NL,VIM,WAC,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P chr10 60388039 60641367 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BICC1,FAM133CP chr10 60414420 61002941 LOH Normal High-resolution SNP genotyping 21211785 BICC1,FAM133CP,PHYHIPL chr10 60482549 60641367 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BICC1 chr10 60483158 60527939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BICC1 chr10 60490906 61465612 LOH Normal High-resolution SNP genotyping 21211785 BICC1,FAM13C,PHYHIPL,SLC16A9 chr10 60518467 60518805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BICC1 chr10 60566391 60567948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BICC1 chr10 60606353 60677056 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 60606353 60677540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 60606353 60677540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 60675895 60792667 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 60675900 60792358 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 60675902 60792358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 60675902 60792358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 60726078 60726178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 60764638 60764728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 60766593 60769206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 60804341 62304627 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANK3,C10orf40,CCDC6,FAM13C,M1,PHYHIPL,SLC16A9 chr10 60813485 133778458 Loss Medulloblastoma array-CGH 16783165 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAMTS14,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,AIFM2,ALDH18A1,ANAPC16,ANK3,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARID5B,ARL3,ARMS2,AS3MT,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BMS1P4,BTAF1,BTBD16,BTRC,BUB3,C10orf105,C10orf107,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf54,C10orf55,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC6,CCNJ,CDH23,CDHR1,CDK1,CEP55,CFL1P1,CH25H,CHCHD1,CHST15,CHST3,CHUK,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CTNNA3,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM13C,FAM149B1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUT11,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GOLGA7B,GOT1,GPAM,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5F,ITPRIP,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399815,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC728978,LOC729020,LOC84989,LOXL4,LRIT1,LRIT2,LRRC20,LRRTM3,LZTS2,M1,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR548AV,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSS51,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OIT3,OPALIN,OPN4,P4HA1,PALD1,PANK1,PAPSS2,PAX2,PBLD,PCBD1,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PHYHIPL,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PRDX3,PRF1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPRE,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,REEP3,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC16A9,SLC18A2,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SRGN,STAMBPL1,STOX1,SUFU,SUPV3L1,SYNPO2L,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM26,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TYSND1,UBTD1,UNC5B,UROS,USMG5,USP54,VAX1,VCL,VDAC2,VPS26A,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF365,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZRANB1 chr10 6081835 6144278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL2RA,RBM17 chr10 6081835 6144278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL2RA,RBM17 chr10 60895735 61010822 Amplification or deletion Cancer Array CGH 17440070 FAM13C,PHYHIPL chr10 60915650 60915750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6093512 6144278 Gain and loss Pancreatic cancer SNP array 17952125 IL2RA,RBM17 chr10 60981168 60981642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHYHIPL chr10 60984722 60984915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHYHIPL chr10 6099023 6099113 Gain and loss Pancreatic cancer SNP array 17952125 IL2RA chr10 6099023 6099113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL2RA chr10 61031686 61035002 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM13C chr10 61031966 61035014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM13C chr10 61034136 61035270 Loss Normal Birdsuite, version 1.5.2 22087296 FAM13C chr10 61035488 61035806 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM13C chr10 61044437 61044537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM13C chr10 6104775 6104847 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 61080529 61165766 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM13C chr10 61080529 61165766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM13C chr10 61080529 61165766 Gain and loss Pancreatic cancer SNP array 17952125 FAM13C chr10 61080529 61165766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM13C chr10 61105344 61105444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM13C chr10 61117842 61118134 Gain and loss Pancreatic cancer SNP array 17952125 FAM13C chr10 61117842 61118134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM13C chr10 61119809 61119909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM13C chr10 61122038 61122138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM13C chr10 61133972 61134072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 61135037 61135137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 61135888 61136020 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 61138544 61139041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 61200000 64800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADO,ANK3,ARID5B,C10orf107,C10orf40,CCDC6,CDK1,EGR2,M1,MIR548AV,RHOBTB1,RTKN2,SLC16A9,TMEM26,ZNF365 chr10 61200000 64800000 Duplication Epilepsy FISH and MLPA 20643615 ADO,ANK3,ARID5B,C10orf107,C10orf40,CCDC6,CDK1,EGR2,M1,MIR548AV,RHOBTB1,RTKN2,SLC16A9,TMEM26,ZNF365 chr10 61200000 64800000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ADO,ANK3,ARID5B,C10orf107,C10orf40,CCDC6,CDK1,EGR2,M1,MIR548AV,RHOBTB1,RTKN2,SLC16A9,TMEM26,ZNF365 chr10 61200000 71300000 Copy number Normal - 21701786 ADO,ANK3,ANXA2P3,ARID5B,ATOH7,C10orf107,C10orf40,CCAR1,CCDC6,CDK1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,EGR2,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC84989,LRRTM3,M1,MIR1296,MIR548AV,MYPN,NRBF2,PBLD,REEP3,RHOBTB1,RTKN2,RUFY2,SIRT1,SLC16A9,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TMEM26,TSPAN15,VPS26A,ZNF365 chr10 61218526 61336824 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 61218526 61336824 Gain or loss Cancer - 20668451 NOT_FOUND chr10 61218526 61336824 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 61218526 61336824 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 61218526 61336824 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 61218526 61336824 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 61218526 61336824 Translate Chronic myelogenous leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr10 61218526 61336824 Translate Papillary thyroid carcinoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr10 61218527 61336824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 61218527 61336824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 61218528 61336314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 61218528 61336314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 61238041 61238141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 61340000 61990000 Gain Breast cancer aCGH 21509527 ANK3,C10orf40,CCDC6,M1,SLC16A9 chr10 61360294 61360394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6137377 6137874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBM17 chr10 61387981 61390677 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 61413195 61432828 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC16A9 chr10 61424086 61466096 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC16A9 chr10 61430368 61430468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC16A9 chr10 61458165 61819494 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANK3,C10orf40,CCDC6,M1,SLC16A9 chr10 61458165 61819494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANK3,C10orf40,CCDC6,M1,SLC16A9 chr10 61458165 61819494 Gain and loss Pancreatic cancer SNP array 17952125 ANK3,C10orf40,CCDC6,M1,SLC16A9 chr10 61458165 61819494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK3,C10orf40,CCDC6,M1,SLC16A9 chr10 61461045 61535709 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 M1,SLC16A9 chr10 61494628 61494727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 61511505 61511615 Gain and loss Pancreatic cancer SNP array 17952125 M1 chr10 61511505 61511616 Gain and loss Pancreatic cancer SNP array 17952125 M1 chr10 61511505 61511618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 M1 chr10 6153480 6153849 Gain and loss Pancreatic cancer SNP array 17952125 RBM17 chr10 6153480 6153890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM17 chr10 61554856 61554948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC6 chr10 61591969 61592066 Gain and loss Pancreatic cancer SNP array 17952125 CCDC6 chr10 61591979 61592067 Gain and loss Pancreatic cancer SNP array 17952125 CCDC6 chr10 61598643 61598743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC6 chr10 61627046 62159659 LOH Normal High-resolution SNP genotyping 21211785 ANK3,C10orf40,CCDC6 chr10 61679119 62234805 LOH Normal High-resolution SNP genotyping 21211785 ANK3,C10orf40 chr10 6170011 6268419 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 MIR3155A,MIR3155B,PFKFB3 chr10 6171013 6198843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3155A,MIR3155B,PFKFB3 chr10 6171013 6198843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3155A,MIR3155B,PFKFB3 chr10 6171013 6198845 Gain and loss Pancreatic cancer SNP array 17952125 MIR3155A,MIR3155B,PFKFB3 chr10 61721590 61721690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 61746842 61774782 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 61752507 61756128 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 61753227 61756128 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 61756128 62306443 LOH Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61761334 62306443 LOH Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61769038 61780237 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 61791080 61793683 Copy number gain Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61849973 61852164 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61861248 61861343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 61931788 61951398 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANK3 chr10 61949833 63120975 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANK3,CDK1,RHOBTB1 chr10 6195040 6228217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PFKFB3 chr10 61960374 61960449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 61971120 61971220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 6198619 6198854 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PFKFB3 chr10 61991343 61993521 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61991891 61993683 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61991891 61993683 Copy number gain Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61992215 61993852 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61992459 61994095 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61996385 61999793 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3 chr10 61996521 62000389 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3 chr10 62076611 62177209 Gain Normal Birdsuite, version 1.5.2 22087296 ANK3 chr10 6208501 6365500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC399715,PFKFB3 chr10 6209419 6209550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PFKFB3 chr10 6209437 6209612 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PFKFB3 chr10 62097254 62098303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANK3 chr10 62114047 62115576 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANK3 chr10 62114047 62115576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK3 chr10 62114269 62114838 Gain and loss Pancreatic cancer SNP array 17952125 ANK3 chr10 62124630 62124853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62124730 62124855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62140342 62140442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62160190 62160290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62175315 62175398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62206373 65131722 LOH Normal High-resolution SNP genotyping 21211785 ADO,ANK3,ARID5B,C10orf107,CDK1,EGR2,JMJD1C,MIR548AV,NRBF2,RHOBTB1,RTKN2,TMEM26,ZNF365 chr10 62208107 62224616 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANK3 chr10 62208107 62224616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANK3 chr10 62208107 62224616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK3 chr10 62208242 62223930 Gain and loss Pancreatic cancer SNP array 17952125 ANK3 chr10 62234803 62234981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62235039 62235139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 6226887 6317500 Gain and loss Pancreatic cancer SNP array 17952125 PFKFB3 chr10 6226922 6317500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PFKFB3 chr10 6226922 6317500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFKFB3 chr10 62281197 62300118 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANK3 chr10 62281197 62305711 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANK3 chr10 62288391 62289670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANK3 chr10 62299206 62431204 Gain and loss Pancreatic cancer SNP array 17952125 ANK3 chr10 62299208 62431204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANK3 chr10 62299208 62431204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANK3 chr10 62299208 62431204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK3 chr10 6231592 6231838 Gain and loss Pancreatic cancer SNP array 17952125 PFKFB3 chr10 6231592 6231909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFKFB3 chr10 6231592 6231910 Gain and loss Pancreatic cancer SNP array 17952125 PFKFB3 chr10 62330222 62676835 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3,CDK1,RHOBTB1 chr10 62330784 62330831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62333574 62388372 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANK3 chr10 62342529 62342691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK3 chr10 62342533 62342691 Gain and loss Pancreatic cancer SNP array 17952125 ANK3 chr10 62342596 62342691 Gain and loss Pancreatic cancer SNP array 17952125 ANK3 chr10 62352190 62352285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62384493 62384593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62388372 64527777 LOH Normal High-resolution SNP genotyping 21211785 ANK3,ARID5B,C10orf107,CDK1,MIR548AV,RHOBTB1,RTKN2,TMEM26,ZNF365 chr10 62388372 64530389 LOH Normal High-resolution SNP genotyping 21211785 ANK3,ARID5B,C10orf107,CDK1,MIR548AV,RHOBTB1,RTKN2,TMEM26,ZNF365 chr10 62410323 63297201 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ANK3,CDK1,RHOBTB1,TMEM26 chr10 62422445 62422545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62474177 63225455 LOH Normal High-resolution SNP genotyping 21211785 ANK3,CDK1,RHOBTB1,TMEM26 chr10 62491008 62491108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK3 chr10 62496958 63120975 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDK1,RHOBTB1 chr10 62496958 68046104 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ADO,ANXA2P3,ARID5B,C10orf107,CDK1,CTNNA3,EGR2,JMJD1C,LOC84989,MIR1296,MIR548AV,NRBF2,REEP3,RHOBTB1,RTKN2,TMEM26,ZNF365 chr10 62497504 63122557 LOH Normal High-resolution SNP genotyping 21211785 CDK1,RHOBTB1 chr10 6253813 6266895 Gain Normal Birdsuite, version 1.5.2 22087296 PFKFB3 chr10 62543504 62543589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDK1 chr10 62561044 62561144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 62717864 62772463 Gain Normal Birdsuite, version 1.5.2 22087296 RHOBTB1 chr10 6277674 8346525 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ATP5C1,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC399715,LOC439949,PRKCQ,SFMBT2,TAF3 chr10 62786721 63869647 LOH Normal High-resolution SNP genotyping 21211785 ARID5B,C10orf107,MIR548AV,TMEM26 chr10 62797 107527 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TUBB8 chr10 62797 123653 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TUBB8 chr10 62836406 62883214 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 62836407 62883214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 62836407 62883214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 62836407 62883214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 62839211 62844264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 6284498 6285716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 6284498 6285716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 62845821 62883002 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 6290001 6294500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 62934432 62934532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6299701 6906900 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100507127,LOC399715,LOC439949,PRKCQ chr10 63026730 63026830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 63046519 63046619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 63058954 63059054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 63092725 63196095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMEM26 chr10 63092725 63196095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM26 chr10 63092725 63196095 Gain and loss Pancreatic cancer SNP array 17952125 TMEM26 chr10 63092725 63196095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM26 chr10 63210717 63210817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM26 chr10 63214711 63214811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 63245649 63245689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6327702 6327800 Gain and loss Pancreatic cancer SNP array 17952125 LOC399715 chr10 63320320 63320420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 63331449 63526709 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C10orf107 chr10 63331449 63526709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf107 chr10 63331449 63526709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf107 chr10 63331465 63522795 Gain and loss Pancreatic cancer SNP array 17952125 C10orf107 chr10 63356701 63356783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 63413621 63413798 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 63490000 64080000 Gain Breast cancer aCGH 21509527 ARID5B,C10orf107,MIR548AV,RTKN2 chr10 63510878 63510973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf107 chr10 63545980 63546066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 63574336 63607977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 6359656 6417944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC399715 chr10 6359656 6417944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC399715 chr10 63612800 63698472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARID5B chr10 63612800 63698472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID5B chr10 63612800 63698472 Gain and loss Pancreatic cancer SNP array 17952125 ARID5B chr10 63612800 63698472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID5B chr10 63614387 66275073 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ADO,ARID5B,EGR2,JMJD1C,LOC84989,MIR1296,MIR548AV,NRBF2,REEP3,RTKN2,ZNF365 chr10 63614566 63647712 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 6375069 6376653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC399715 chr10 63779774 63780054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID5B chr10 63779811 63780062 Gain and loss Pancreatic cancer SNP array 17952125 ARID5B chr10 63779811 63780062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID5B chr10 63803922 64101777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID5B,RTKN2 chr10 63803922 64101777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID5B,RTKN2 chr10 63803957 64101777 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARID5B,RTKN2 chr10 63803957 64101777 Gain and loss Pancreatic cancer SNP array 17952125 ARID5B,RTKN2 chr10 63894501 63896000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 63927175 63928711 Loss Normal 244K array 17666407 NOT_FOUND chr10 63997062 63997147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTKN2 chr10 6410141 6410241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 64113406 64350763 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ZNF365 chr10 64170974 64171151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF365 chr10 6421206 6464071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 64218628 64218728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF365 chr10 64222940 64497796 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ZNF365 chr10 64234522 64238244 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF365 chr10 64234522 64238244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF365 chr10 64234522 64238244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF365 chr10 64234652 64238244 Gain and loss Pancreatic cancer SNP array 17952125 ZNF365 chr10 64241762 64248933 Copy number Breast cancer Univariate Analysis 17375183 ZNF365 chr10 64241762 64248933 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 ZNF365 chr10 64241762 64248933 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ZNF365 chr10 64241763 64246133 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF365 chr10 64241763 64246133 Gain and loss Pancreatic cancer SNP array 17952125 ZNF365 chr10 64241763 64246133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF365 chr10 64243001 64249000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF365 chr10 64319553 64319646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF365 chr10 64320096 64320196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF365 chr10 6432284 6434723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 6432284 6434729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 6433069 6462822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 6433605 6444215 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 6433605 6458759 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 64343910 64344010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF365 chr10 6437795 6461042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 64398556 64398656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF365 chr10 6440119 6468956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 64415185 64415294 Deletion Acute myeloid leukemia BAC aCGH 20962326 ZNF365 chr10 64456885 64456961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6446669 6461578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 6447812 6468460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 6448113 6464417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 6449401 6459700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 64500000 70600000 Loss Myelodysplastic syndrome Array CGH 18663149 ADO,ANXA2P3,ATOH7,CCAR1,CTNNA3,DNA2,DNAJC12,EGR2,HERC4,HNRNPH3,JMJD1C,LOC84989,LRRTM3,MIR1296,MYPN,NRBF2,PBLD,REEP3,RUFY2,SIRT1,SLC25A16,SNORD98,STOX1,TET1 chr10 64500000 74900000 Gain Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 ADAMTS14,ADO,AIFM2,ANAPC16,ANXA2P3,ASCC1,ATOH7,C10orf105,C10orf35,C10orf54,CCAR1,CDH23,CHST3,COL13A1,CTNNA3,DDIT4,DDX21,DDX50,DNA2,DNAJB12,DNAJC12,ECD,EGR2,EIF4EBP2,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC728978,LOC84989,LRRC20,LRRTM3,MCU,MICU1,MIR1256,MIR1296,MIR4676,MYPN,NEUROG3,NODAL,NPFFR1,NRBF2,NUDT13,OIT3,P4HA1,PALD1,PBLD,PCBD1,PLA2G12B,PPA1,PRF1,PSAP,REEP3,RUFY2,SAR1A,SGPL1,SIRT1,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,TACR2,TBATA,TET1,TSPAN15,TYSND1,UNC5B,VPS26A chr10 64500000 74900000 Loss Preeclampsia references 17576883 ADAMTS14,ADO,AIFM2,ANAPC16,ANXA2P3,ASCC1,ATOH7,C10orf105,C10orf35,C10orf54,CCAR1,CDH23,CHST3,COL13A1,CTNNA3,DDIT4,DDX21,DDX50,DNA2,DNAJB12,DNAJC12,ECD,EGR2,EIF4EBP2,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC728978,LOC84989,LRRC20,LRRTM3,MCU,MICU1,MIR1256,MIR1296,MIR4676,MYPN,NEUROG3,NODAL,NPFFR1,NRBF2,NUDT13,OIT3,P4HA1,PALD1,PBLD,PCBD1,PLA2G12B,PPA1,PRF1,PSAP,REEP3,RUFY2,SAR1A,SGPL1,SIRT1,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,TACR2,TBATA,TET1,TSPAN15,TYSND1,UNC5B,VPS26A chr10 64500000 87900000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ADAMTS14,ADK,ADO,AGAP5,AIFM2,ANAPC16,ANXA11,ANXA2P3,ANXA7,AP3M1,ASCC1,ATOH7,BMS1P4,C10orf105,C10orf11,C10orf35,C10orf54,C10orf55,C10orf57,C10orf99,CAMK2G,CCAR1,CDH23,CDHR1,CHCHD1,CHST3,COL13A1,COMTD1,CTNNA3,DDIT4,DDX21,DDX50,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,DYDC1,DYDC2,ECD,EGR2,EIF4EBP2,EIF5AL1,FAM149B1,FAM190B,FAM213A,FUT11,GHITM,GLUD1P3,GRID1,GRID1-AS1,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KAT6B,KCNMA1,KIAA0913,KIAA1279,LOC100128292,LOC100132987,LOC100288974,LOC100507331,LOC170425,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,LOC728978,LOC84989,LRIT1,LRIT2,LRRC20,LRRTM3,MAT1A,MBL1P,MCU,MICU1,MIR1256,MIR1296,MIR4676,MRPS16,MSS51,MYOZ1,MYPN,NDST2,NEUROG3,NODAL,NPFFR1,NRBF2,NRG3,NUDT13,OIT3,P4HA1,PALD1,PBLD,PCBD1,PLA2G12B,PLAC9,PLAU,POLR3A,PPA1,PPIF,PPP3CB,PRF1,PSAP,REEP3,RGR,RPS24,RUFY2,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGPL1,SH2D4B,SIRT1,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TET1,TSPAN14,TSPAN15,TTC18,TYSND1,UNC5B,USP54,VCL,VDAC2,VPS26A,ZCCHC24,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 6451570 6457635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 64539905 64539999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 64539905 64540010 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 64539905 64540012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 64562115 65131722 LOH Normal High-resolution SNP genotyping 21211785 ADO,EGR2,JMJD1C,NRBF2 chr10 64563056 64584789 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADO,EGR2 chr10 64563056 64584789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADO,EGR2 chr10 64563056 64584789 Gain and loss Pancreatic cancer SNP array 17952125 ADO,EGR2 chr10 64563056 64584789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADO,EGR2 chr10 64563746 65150881 LOH Normal High-resolution SNP genotyping 21211785 ADO,EGR2,JMJD1C,MIR1296,NRBF2 chr10 64596987 64895728 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NRBF2 chr10 64596987 64895728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRBF2 chr10 64596987 64895728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRBF2 chr10 64596988 64895612 Gain and loss Pancreatic cancer SNP array 17952125 NRBF2 chr10 64607543 64854701 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 NOT_FOUND chr10 64626111 64769877 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 64651921 64652811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 64718719 64769877 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 64783096 64783196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 64800000 135374737 Deletion Medulloblastoma SNP arrays 21979893 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,AIFM2,ALDH18A1,ANAPC16,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA2P3,ANXA7,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BMS1P4,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf105,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf35,C10orf54,C10orf55,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCNJ,CDH23,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,CHST15,CHST3,CHUK,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CTNNA3,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM149B1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,FUT11,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399815,LOC399829,LOC439990,LOC439994,LOC619207,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC728978,LOC729020,LOC84989,LOXL4,LRIT1,LRIT2,LRRC20,LRRC27,LRRTM3,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1296,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSS51,MTG1,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OIT3,OPALIN,OPN4,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PAX2,PBLD,PCBD1,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PRAP1,PRDX3,PRF1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,REEP3,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC18A2,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1 chr10 64800000 71300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANXA2P3,ATOH7,CCAR1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC84989,LRRTM3,MIR1296,MYPN,NRBF2,PBLD,REEP3,RUFY2,SIRT1,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TSPAN15,VPS26A chr10 64800000 71300000 Copy number Normal - 21701786 ANXA2P3,ATOH7,CCAR1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC84989,LRRTM3,MIR1296,MYPN,NRBF2,PBLD,REEP3,RUFY2,SIRT1,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TSPAN15,VPS26A chr10 64800000 71300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANXA2P3,ATOH7,CCAR1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC84989,LRRTM3,MIR1296,MYPN,NRBF2,PBLD,REEP3,RUFY2,SIRT1,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TSPAN15,VPS26A chr10 64800000 71300000 Loss Carcinoma ex pleomorphic adenoma array-CGH 18828159 ANXA2P3,ATOH7,CCAR1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC84989,LRRTM3,MIR1296,MYPN,NRBF2,PBLD,REEP3,RUFY2,SIRT1,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TSPAN15,VPS26A chr10 64800000 71300000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ANXA2P3,ATOH7,CCAR1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC84989,LRRTM3,MIR1296,MYPN,NRBF2,PBLD,REEP3,RUFY2,SIRT1,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TSPAN15,VPS26A chr10 64800000 71300000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 ANXA2P3,ATOH7,CCAR1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,HERC4,HK1,HKDC1,HNRNPH3,JMJD1C,KIAA1279,LOC84989,LRRTM3,MIR1296,MYPN,NRBF2,PBLD,REEP3,RUFY2,SIRT1,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TSPAN15,VPS26A chr10 64802723 64802814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 64846281 66342495 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 JMJD1C,LOC84989,MIR1296,NRBF2,REEP3 chr10 64857063 64857665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 64857063 64857713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 64877024 65296567 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 JMJD1C,LOC84989,MIR1296,NRBF2,REEP3 chr10 64877024 65851407 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 JMJD1C,LOC84989,MIR1296,NRBF2,REEP3 chr10 64894995 64896326 Gain and loss Pancreatic cancer SNP array 17952125 NRBF2 chr10 64919227 64919404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 64951129 65051977 Gain and loss Pancreatic cancer SNP array 17952125 JMJD1C chr10 64951179 65054887 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 JMJD1C chr10 64951179 65054887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JMJD1C chr10 64951179 65054887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JMJD1C chr10 65040526 65058056 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 JMJD1C chr10 65049604 68599244 Deletion Normal Arbitrated Peel-off 21527027 ANXA2P3,CTNNA3,JMJD1C,LOC84989,MIR1296,REEP3 chr10 65049604 68599244 Deletion Normal GeneGISTIC 21527027 ANXA2P3,CTNNA3,JMJD1C,LOC84989,MIR1296,REEP3 chr10 65049604 68599244 Deletion Normal Standard peel-off 21527027 ANXA2P3,CTNNA3,JMJD1C,LOC84989,MIR1296,REEP3 chr10 65053174 65054341 Gain and loss Pancreatic cancer SNP array 17952125 JMJD1C chr10 65053174 65054341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JMJD1C chr10 65064083 65064593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JMJD1C chr10 6509110 6662244 Gain or loss Breast cancer - 20668451 LOC439949,PRKCQ chr10 6509110 6662244 Gain or loss Cancer - 20668451 LOC439949,PRKCQ chr10 6509110 6662244 Gain or loss Lung cancer - 20668451 LOC439949,PRKCQ chr10 6509110 6662244 Gain or loss Ovarian cancer - 20668451 LOC439949,PRKCQ chr10 6509110 6662244 Gain or loss Pancreas cancer - 20668451 LOC439949,PRKCQ chr10 6509110 6662244 Gain or loss Prostate cancer - 20668451 LOC439949,PRKCQ chr10 6509111 6662244 Gain and loss Pancreatic cancer SNP array 17952125 LOC439949,PRKCQ chr10 6509140 6662244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC439949,PRKCQ chr10 6509140 6662244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC439949,PRKCQ chr10 65175781 65175881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JMJD1C chr10 65179245 65181130 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 JMJD1C chr10 65179255 65181405 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 JMJD1C chr10 65179255 65181405 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 JMJD1C chr10 65179392 65181260 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 JMJD1C chr10 65309408 65309535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 REEP3 chr10 65332210 65333014 Gain and loss Pancreatic cancer SNP array 17952125 REEP3 chr10 65332210 65333014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 REEP3 chr10 65357809 65445988 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 REEP3 chr10 65402213 65993518 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 65423416 66458056 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 65439872 65464000 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 65439872 65464126 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 65440218 65464126 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 65440899 65464126 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 65441008 65464000 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 65441008 65464126 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 65507231 65507338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 6555772 6555872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCQ chr10 65594624 65594724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 65595986 65602698 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 65598721 65600617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 65598726 65600617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 65598726 65600617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 65697598 65721279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 65699345 65699440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6573214 6573364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCQ chr10 65732917 65765262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 6577215 6596757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKCQ chr10 65859994 65860139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 65860062 65891285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 65890600 65890700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 65895737 65895837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 65895955 65896735 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 65938790 65939098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 65960463 65960512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6597248 6597326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCQ chr10 6600000 12200000 Loss Mantle cell lymphoma Array CGH 19029149 ATP5C1,C10orf47,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439949,LOC439950,PRKCQ,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 66006001 66007500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 66050137 66050685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 66059955 66060055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66068777 66070750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 66079508 66079581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66090136 66090449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 66141999 66976940 LOH Normal High-resolution SNP genotyping 21211785 ANXA2P3 chr10 66164531 66958536 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA2P3 chr10 66220759 66220859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66255335 66256342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 66285275 66285375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66354463 66354536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 66363458 66503261 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 66394570 66425938 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 66412155 66412191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66455837 66527887 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr10 6646828 6672449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 66506411 66518751 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 66511815 66512070 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 66513473 66548545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 66530272 66530372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66599202 66599633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 66601437 66602823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 66632128 66632228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66657188 69243230 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CTNNA3,LRRTM3 chr10 66658623 68857972 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTNNA3,LRRTM3 chr10 66677796 66678556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 66700401 66704900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 66702393 66702786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 6679147 6681559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 66836822 66837069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66837057 66837188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66904784 67288226 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-647K arrays 21546498 NOT_FOUND chr10 66931359 66988205 Loss or gain Normal 244K array 17666407 NOT_FOUND chr10 6693820 6704202 P14 Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 6694412 6704194 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 66966333 66995459 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66966333 66996178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66969683 66984440 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66969683 66996178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66969842 66984440 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66971127 66999598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 66971924 66997225 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 66974901 66987400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 66975075 66976085 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 66975079 66995459 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66976085 66977929 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 66976164 66984452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66976271 66992788 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 66976271 66995458 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 66976282 66984452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66976911 66985258 Deletion Non-syndromic sensorineural hearing loss 370K1,370K2,610K,Agilent24M 19587683 NOT_FOUND chr10 66976911 66985258 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 66976939 66985300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 66976940 66988660 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 66976940 66988660 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 6697781 6704733 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 66977917 66995459 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66977917 66996060 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66977917 66996178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66977917 66996688 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66977929 66984436 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66977929 66984452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66977929 66984452 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 66977929 66992801 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66977942 66984452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66977945 66995459 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66977957 66984452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66977957 66992801 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66978023 66984452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 66978024 66995459 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66978585 66995459 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66978585 66996060 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 66980652 66983043 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr10 66980652 66983475 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr10 66980652 66983475 Loss Autism qPCR 20531469 NOT_FOUND chr10 66984452 66992932 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 6698934 6699024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 66992932 66999412 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 6700000 12300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5C1,C10orf47,CDC123,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439950,NUDT5,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 6700000 12300000 Copy number Digeorge syndrome BAC array CGH platform 21549014 ATP5C1,C10orf47,CDC123,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439950,NUDT5,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 6700000 12300000 Copy number Normal - 21701786 ATP5C1,C10orf47,CDC123,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439950,NUDT5,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 6700000 12300000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ATP5C1,C10orf47,CDC123,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439950,NUDT5,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 6700000 12300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5C1,C10orf47,CDC123,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439950,NUDT5,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 6700000 12300000 Gain Cryptorchidism oligo V6.3 21048976 ATP5C1,C10orf47,CDC123,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439950,NUDT5,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 6700000 12300000 Gain Disorders of sex development - 21048976 ATP5C1,C10orf47,CDC123,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439950,NUDT5,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 6700000 12300000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ATP5C1,C10orf47,CDC123,CELF2,DHTKD1,ECHDC3,FLJ45983,GATA3,ITIH2,ITIH5,KIN,LOC100507127,LOC219731,LOC254312,LOC439950,NUDT5,SEC61A2,SFMBT2,SFTA1P,TAF3,UPF2,USP6NL chr10 6700000 17300000 Microdeletion DiGeorge-Velo cardiofacial aCGH 22470819 ACBD7,ATP5C1,BEND7,C10orf111,C10orf47,C1QL3,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,ECHDC3,FAM107B,FAM171A1,FAM188A,FLJ45983,FRMD4A,GATA3,HSPA14,ITGA8,ITIH2,ITIH5,KIN,LOC100192204,LOC100507127,LOC219731,LOC254312,LOC283070,LOC439950,MCM10,MEIG1,MIR1265,MIR4480,NMT2,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SUV39H2,TAF3,TRDMT1,UCMA,UPF2,USP6NL,VIM chr10 6700000 17300000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ACBD7,ATP5C1,BEND7,C10orf111,C10orf47,C1QL3,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,ECHDC3,FAM107B,FAM171A1,FAM188A,FLJ45983,FRMD4A,GATA3,HSPA14,ITGA8,ITIH2,ITIH5,KIN,LOC100192204,LOC100507127,LOC219731,LOC254312,LOC283070,LOC439950,MCM10,MEIG1,MIR1265,MIR4480,NMT2,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SUV39H2,TAF3,TRDMT1,UCMA,UPF2,USP6NL,VIM chr10 67012576 67014176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 67019676 67019776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67088556 67088656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67100000 71360000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ATOH7,CCAR1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,HERC4,HK1,HKDC1,HNRNPH3,KIAA1279,LRRTM3,MYPN,NEUROG3,PBLD,RUFY2,SIRT1,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TET1,TSPAN15,VPS26A chr10 67102131 68139483 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTNNA3 chr10 67103959 67499226 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 NOT_FOUND chr10 67107502 67107602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67114589 135247356 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,AIFM2,ALDH18A1,ANAPC16,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA7,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ASCC1,ATAD1,ATE1,ATOH7,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BMS1P4,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf105,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf35,C10orf54,C10orf55,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCNJ,CDH23,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,CHST15,CHST3,CHUK,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CTNNA3,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DLG5,DMBT1,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM149B1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,FUT11,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399815,LOC399829,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC728978,LOC729020,LOXL4,LRIT1,LRIT2,LRRC20,LRRC27,LRRTM3,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSS51,MTG1,MXI1,MYOF,MYOZ1,MYPN,NANOS1,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OIT3,OPALIN,OPN4,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PAX2,PBLD,PCBD1,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PRAP1,PRDX3,PRF1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SLC16A12,SLC18A2,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYNPO2L,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1 chr10 67128399 67161738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 6713344 6855030 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC100507127 chr10 6713344 6855030 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC100507127 chr10 6713344 6872022 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC100507127 chr10 6713344 6874962 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC100507127 chr10 6713344 6874962 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC100507127 chr10 6713344 6876725 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC100507127 chr10 6713344 6876725 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC100507127 chr10 6717526 6878948 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC100507127 chr10 6717526 6885786 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC100507127 chr10 67187596 67187696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6723674 6878948 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC100507127 chr10 6726471 6885786 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC100507127 chr10 67269605 67269705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67272992 67273096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 67349725 69125933 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CTNNA3,LRRTM3 chr10 67349875 69125933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3,LRRTM3 chr10 67349875 69125933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3,LRRTM3 chr10 67350094 69095444 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3,LRRTM3 chr10 67430788 67431004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67430989 67431202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67475038 67475138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67512851 67544637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 67538919 67539013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67551761 78914295 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ADAMTS14,ADK,AGAP5,AIFM2,ANAPC16,ANXA7,AP3M1,ASCC1,ATOH7,BMS1P4,C10orf105,C10orf11,C10orf35,C10orf54,C10orf55,CAMK2G,CCAR1,CDH23,CHCHD1,CHST3,COL13A1,COMTD1,CTNNA3,DDIT4,DDX21,DDX50,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,EIF4EBP2,FAM149B1,FUT11,GLUD1P3,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,KAT6B,KCNMA1,KIAA0913,KIAA1279,LOC100507331,LOC728978,LRRC20,LRRTM3,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,MYPN,NDST2,NEUROG3,NODAL,NPFFR1,NUDT13,OIT3,P4HA1,PALD1,PBLD,PCBD1,PLA2G12B,PLAU,PPA1,PPP3CB,PRF1,PSAP,RUFY2,SAMD8,SAR1A,SEC24C,SGPL1,SIRT1,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TET1,TSPAN15,TTC18,TYSND1,UNC5B,USP54,VCL,VDAC2,VPS26A,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 6759841 6771924 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 67607315 68917163 LOH Normal High-resolution SNP genotyping 21211785 CTNNA3,LRRTM3 chr10 67618085 67877223 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CTNNA3 chr10 67618085 68008745 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CTNNA3 chr10 67650978 67756487 Gain Normal Birdsuite, version 1.5.2 22087296 CTNNA3 chr10 67666648 67666748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 67670164 67703145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTNNA3 chr10 67688367 67759307 Loss Autism LR 20531469 CTNNA3 chr10 67719113 67719113 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CTNNA3 chr10 67724031 67845228 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CTNNA3 chr10 67724488 67879503 Loss Autism Exome sequencing and CGH 22495309 CTNNA3 chr10 67741619 67788456 Loss Autism LR 20531469 CTNNA3 chr10 67745835 67788819 Substitutions and indels small cell lung cancer array-CGH 20016488 CTNNA3 chr10 67746104 67746204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 67747586 67779332 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CTNNA3 chr10 67747770 67777502 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CTNNA3 chr10 67748487 67785209 Loss Autism LR 20531469 CTNNA3 chr10 67794039 80986539 Substitutions and indels small cell lung cancer array-CGH 20016488 ADAMTS14,ADK,AGAP5,AIFM2,ANAPC16,ANXA7,AP3M1,ASCC1,ATOH7,BMS1P4,C10orf105,C10orf11,C10orf35,C10orf54,C10orf55,CAMK2G,CCAR1,CDH23,CHCHD1,CHST3,COL13A1,COMTD1,CTNNA3,DDIT4,DDX21,DDX50,DLG5,DNA2,DNAJB12,DNAJC12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,EIF4EBP2,FAM149B1,FUT11,GLUD1P3,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,KAT6B,KCNMA1,KIAA0913,KIAA1279,LOC100128292,LOC100132987,LOC100507331,LOC283050,LOC728978,LRRC20,LRRTM3,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,MYPN,NDST2,NEUROG3,NODAL,NPFFR1,NUDT13,OIT3,P4HA1,PALD1,PBLD,PCBD1,PLA2G12B,PLAU,POLR3A,PPA1,PPP3CB,PRF1,PSAP,RPS24,RUFY2,SAMD8,SAR1A,SEC24C,SGPL1,SIRT1,SLC25A16,SLC29A3,SNORD98,SPOCK2,SRGN,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TET1,TSPAN15,TTC18,TYSND1,UNC5B,USP54,VCL,VDAC2,VPS26A,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 67809125 68176504 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 CTNNA3 chr10 6783603 7465570 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100507127,SFMBT2 chr10 67838185 67870791 Loss Normal Birdsuite, version 1.5.2 22087296 CTNNA3 chr10 67838960 67885161 Loss Autism LR 20531469 CTNNA3 chr10 67848154 67857997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTNNA3 chr10 67870791 67896624 Loss Normal Birdsuite, version 1.5.2 22087296 CTNNA3 chr10 67896624 68060356 Loss Normal Birdsuite, version 1.5.2 22087296 CTNNA3 chr10 67911219 67911527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTNNA3 chr10 67919305 68184314 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CTNNA3 chr10 67942427 68177427 Loss Autism Exome sequencing and CGH 22495309 CTNNA3 chr10 67962374 68086351 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CTNNA3 chr10 67981151 68085796 Loss Autism Exome sequencing and CGH 22495309 CTNNA3 chr10 67987089 68067310 Loss Autism LR 20531469 CTNNA3 chr10 67987835 67987935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68010022 68045253 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTNNA3 chr10 68016700 68162396 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTNNA3 chr10 68020151 68020220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68029140 68183933 Loss Autism LR 20531469 CTNNA3 chr10 68045003 68045102 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 68045003 68045102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 68060356 68065737 Loss Normal Birdsuite, version 1.5.2 22087296 CTNNA3 chr10 68065737 68185158 Loss Normal Birdsuite, version 1.5.2 22087296 CTNNA3 chr10 68070727 68070779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 6807308 6842045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100507127 chr10 68099569 68167094 Loss Autism LR 20531469 CTNNA3 chr10 68176656 68950041 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 CTNNA3,LRRTM3 chr10 6817703 6817803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 68187163 68187263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68226981 69568294 LOH Normal High-resolution SNP genotyping 21211785 CTNNA3,DNAJC12,LRRTM3 chr10 68229391 68229491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68318012 68318088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68336550 68336746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68336758 68336966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68336789 68336828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68355797 68530873 Copy number Normal Illumina Human610-Quad BeadChip 21660214 CTNNA3 chr10 68355798 68530873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CTNNA3 chr10 68355798 68530873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 68355798 68530873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 68355819 68529072 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 68373152 68373252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68407553 68407636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68410213 68410270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTNNA3 chr10 68474136 68474236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68475217 68475473 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 68475217 68475473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 68497410 69637824 LOH Normal High-resolution SNP genotyping 21211785 CTNNA3,DNAJC12,LRRTM3 chr10 68502083 68845562 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-648K arrays 21546498 CTNNA3,LRRTM3 chr10 68539661 69403188 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTNNA3,LRRTM3 chr10 68571354 70982955 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ATOH7,CCAR1,CTNNA3,DDX21,DDX50,DNA2,DNAJC12,HERC4,HKDC1,HNRNPH3,KIAA1279,LRRTM3,MYPN,PBLD,RUFY2,SIRT1,SLC25A16,SNORD98,SRGN,STOX1,SUPV3L1,TET1,VPS26A chr10 68576915 68609478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTNNA3 chr10 68588411 69995910 LOH Normal High-resolution SNP genotyping 21211785 ATOH7,CTNNA3,DNAJC12,HERC4,LRRTM3,MYPN,SIRT1 chr10 685888 699940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf108,DIP2C,MIR5699 chr10 685888 699940 Gain and loss Pancreatic cancer SNP array 17952125 C10orf108,DIP2C,MIR5699 chr10 685888 699940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf108,DIP2C,MIR5699 chr10 68606250 68606309 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CTNNA3 chr10 68607549 68607626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 68632934 69578883 LOH Normal High-resolution SNP genotyping 21211785 CTNNA3,DNAJC12,LRRTM3 chr10 68709306 68710228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTNNA3,LRRTM3 chr10 68763887 68764646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3,LRRTM3 chr10 68795873 68795973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3,LRRTM3 chr10 68800930 68808288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTNNA3,LRRTM3 chr10 6880251 6882500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100507127 chr10 68805249 68805318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3,LRRTM3 chr10 68815522 68815622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3,LRRTM3 chr10 68970214 69114993 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CTNNA3 chr10 68984548 69018756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTNNA3 chr10 68986418 69568294 LOH Normal High-resolution SNP genotyping 21211785 CTNNA3,DNAJC12 chr10 68997578 69016372 Loss Normal Birdsuite, version 1.5.2 22087296 CTNNA3 chr10 69040451 69040551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 6906901 8096000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP5C1,FLJ45983,ITIH2,ITIH5,KIN,SFMBT2,TAF3 chr10 6907152 6909166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 69161589 69161689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 69180048 69180996 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69180048 69180996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69205161 69205261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 69223534 69224009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69223620 69224014 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69226432 69267943 Gain or loss Breast cancer - 20668451 CTNNA3 chr10 69226432 69267943 Gain or loss Cancer - 20668451 CTNNA3 chr10 69226432 69267943 Gain or loss Lung cancer - 20668451 CTNNA3 chr10 69226432 69267943 Gain or loss Ovarian cancer - 20668451 CTNNA3 chr10 69226432 69267943 Gain or loss Pancreas cancer - 20668451 CTNNA3 chr10 69226432 69267943 Gain or loss Prostate cancer - 20668451 CTNNA3 chr10 69226434 69267943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69226434 69267943 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69226434 69267943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 692352 692436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2C chr10 69238266 69238366 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69238266 69238372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69240971 69267943 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CTNNA3 chr10 6925469 6925569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 69255074 69255358 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69255074 69255364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 6925942 6926042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 69263527 69263845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69304096 69304675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69304106 69304654 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69314433 69348147 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69314433 69348153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69314433 69348153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69351661 69505109 Gain or loss Breast cancer - 20668451 CTNNA3 chr10 69351661 69505109 Gain or loss Cancer - 20668451 CTNNA3 chr10 69351661 69505109 Gain or loss Lung cancer - 20668451 CTNNA3 chr10 69351661 69505109 Gain or loss Ovarian cancer - 20668451 CTNNA3 chr10 69351661 69505109 Gain or loss Pancreas cancer - 20668451 CTNNA3 chr10 69351661 69505109 Gain or loss Prostate cancer - 20668451 CTNNA3 chr10 69351663 69505109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69351663 69505109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69351671 69505019 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69375481 69409209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTNNA3 chr10 69384135 69384211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA3 chr10 69390465 69391227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69400036 69400132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69437481 69437780 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA3 chr10 69437483 69437780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 69439972 69440626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA3 chr10 6951160 6951260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 6951805 6951899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 69518304 69518404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 69535886 69641775 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC12 chr10 69535918 69641464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC12 chr10 69535918 69641464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC12 chr10 69539255 69641779 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DNAJC12 chr10 69574290 70418074 LOH Normal High-resolution SNP genotyping 21211785 ATOH7,DNA2,DNAJC12,HERC4,HNRNPH3,MYPN,PBLD,RUFY2,SIRT1,SLC25A16,TET1 chr10 69587842 69588168 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC12 chr10 69587842 69588172 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC12 chr10 69587842 69588173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC12 chr10 6960495 6960553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 69633350 70135740 LOH Normal High-resolution SNP genotyping 21211785 ATOH7,HERC4,HNRNPH3,MYPN,PBLD,RUFY2,SIRT1 chr10 69643018 73406411 Gain Prostate cancer Array CGH 18632612 ADAMTS14,AIFM2,ATOH7,C10orf35,CCAR1,CDH23,COL13A1,DDX21,DDX50,DNA2,EIF4EBP2,H2AFY2,HERC4,HK1,HKDC1,HNRNPH3,KIAA1279,LOC728978,LRRC20,MYPN,NEUROG3,NODAL,NPFFR1,PALD1,PBLD,PCBD1,PPA1,PRF1,RUFY2,SAR1A,SGPL1,SIRT1,SLC25A16,SLC29A3,SNORD98,SRGN,STOX1,SUPV3L1,TACR2,TBATA,TET1,TSPAN15,TYSND1,UNC5B,VPS26A chr10 69645873 69701073 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 HERC4,SIRT1 chr10 69650102 69650282 Gain and loss Pancreatic cancer SNP array 17952125 SIRT1 chr10 69660387 69661866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIRT1 chr10 69660387 69661866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRT1 chr10 69660982 69661440 Gain and loss Pancreatic cancer SNP array 17952125 SIRT1 chr10 69690320 69691262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC4 chr10 69712423 69762669 Gain and loss Pancreatic cancer SNP array 17952125 HERC4 chr10 69712423 69762690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HERC4 chr10 69712423 69762690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC4 chr10 69738232 69740650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HERC4 chr10 69738803 69739239 Deletion Medulloblastoma Illumina SNP arrays 21163964 HERC4 chr10 69761773 69772959 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 HERC4 chr10 69761838 69772950 Gain and loss Pancreatic cancer SNP array 17952125 HERC4 chr10 69761885 69772950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HERC4 chr10 69761885 69772950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC4 chr10 69770870 69837028 Gain and loss Pancreatic cancer SNP array 17952125 HERC4 chr10 69773272 69837061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HERC4 chr10 69773272 69837061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC4 chr10 69783838 69783957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HERC4 chr10 69787272 69795982 Amplification or deletion Cancer Array CGH 17440070 HERC4 chr10 69801287 69826957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HERC4 chr10 69807120 69826696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HERC4 chr10 69815164 69815253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HERC4 chr10 69843826 69901885 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 MYPN chr10 69843827 69901885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYPN chr10 69843827 69901885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYPN chr10 69843828 69901678 Gain and loss Pancreatic cancer SNP array 17952125 MYPN chr10 69854323 69854760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 69854323 69929756 Gain and loss Pancreatic cancer SNP array 17952125 MYPN chr10 69891170 69891288 Gain and loss Pancreatic cancer SNP array 17952125 MYPN chr10 69891170 69891288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYPN chr10 69891170 69891289 Gain and loss Pancreatic cancer SNP array 17952125 MYPN chr10 69912104 69957613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYPN chr10 69912104 69957613 Gain and loss Pancreatic cancer SNP array 17952125 MYPN chr10 69912104 69957613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYPN chr10 69915451 70149145 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ATOH7,HNRNPH3,MYPN,PBLD,RUFY2 chr10 69929295 69929731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYPN chr10 69932915 69933020 Gain and loss Pancreatic cancer SNP array 17952125 MYPN chr10 69932915 69933022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYPN chr10 69942103 69942424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYPN chr10 69974252 69974682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 69974277 69974575 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 69990122 70124245 Copy number Lung cancer - 20668451 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990122 70124245 Gain or loss Breast cancer - 20668451 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990122 70124245 Gain or loss Cancer - 20668451 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990122 70124245 Gain or loss Lung cancer - 20668451 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990122 70124245 Gain or loss Ovarian cancer - 20668451 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990122 70124245 Gain or loss Pancreas cancer - 20668451 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990122 70124245 Gain or loss Prostate cancer - 20668451 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990123 70124244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990123 70124244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 69990419 70123454 Gain and loss Pancreatic cancer SNP array 17952125 ATOH7,HNRNPH3,PBLD,RUFY2 chr10 70057388 70709485 LOH Normal High-resolution SNP genotyping 21211785 CCAR1,DDX50,DNA2,HNRNPH3,PBLD,RUFY2,SLC25A16,SNORD98,STOX1,TET1 chr10 70062134 70062490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PBLD chr10 70062134 70062490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBLD chr10 70066580 70678686 LOH Normal High-resolution SNP genotyping 21211785 CCAR1,DDX50,DNA2,HNRNPH3,PBLD,RUFY2,SLC25A16,SNORD98,STOX1,TET1 chr10 70071083 70071425 Gain and loss Pancreatic cancer SNP array 17952125 PBLD chr10 70071083 70071425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBLD chr10 70104119 70104863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUFY2 chr10 70127725 70301318 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DNA2,RUFY2,SLC25A16 chr10 70131542 70131626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUFY2 chr10 70149329 70162545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RUFY2 chr10 70150977 70221315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNA2,RUFY2 chr10 70150977 70221315 Gain and loss Pancreatic cancer SNP array 17952125 DNA2,RUFY2 chr10 70150977 70221315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNA2,RUFY2 chr10 70165483 70165586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUFY2 chr10 70165484 70165586 Gain and loss Pancreatic cancer SNP array 17952125 RUFY2 chr10 70184935 70185001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNA2 chr10 70189081 70189177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNA2 chr10 70257300 70325194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A16,TET1 chr10 70257300 70325194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A16,TET1 chr10 70257605 70325215 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A16,TET1 chr10 70276567 70276666 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A16 chr10 70276567 70276671 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A16 chr10 70276567 70276673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A16 chr10 70285239 70285323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A16 chr10 70304331 70304442 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 70331040 70376608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70331040 70376608 Gain and loss Pancreatic cancer SNP array 17952125 TET1 chr10 70331040 70376608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70341415 70341521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70341418 70341521 Gain and loss Pancreatic cancer SNP array 17952125 TET1 chr10 7035677 7035757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 70385898 70414285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70385898 70414285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70385898 70414829 Gain and loss Pancreatic cancer SNP array 17952125 TET1 chr10 703965 704164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C10orf108,DIP2C chr10 7041756 7073564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 70418499 70446740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70418499 70446740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70418560 70446740 Gain and loss Pancreatic cancer SNP array 17952125 TET1 chr10 70420899 70421433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70440161 70440295 Gain and loss Pancreatic cancer SNP array 17952125 TET1 chr10 70440161 70440295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 7044642 70418499 Copy number Autism exome sequencing 22495311 A1CF,ABI1,ACBD5,ACBD7,ACTR3BP5,ADO,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,ALOX5,ANK3,ANKRD26,ANKRD30A,ANXA2P3,ANXA8,ANXA8L1,ANXA8L2,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARID5B,ARL5B,ARMC3,ARMC4,ASAH2,ASAH2B,ATOH7,ATP5C1,BAMBI,BEND7,BICC1,BMI1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf107,C10orf111,C10orf113,C10orf114,C10orf128,C10orf25,C10orf40,C10orf47,C10orf53,C10orf67,C10orf68,C10orf71,C1QL3,CACNB2,CAMK1D,CCDC3,CCDC6,CCDC7,CCNY,CDC123,CDK1,CDNF,CELF2,CHAT,CISD1,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CSTF2T,CTNNA3,CTSL1P2,CUBN,CUL2,CXCL12,DCLRE1C,DHTKD1,DKK1,DNA2,DNAJC1,DNAJC12,DRGX,EBLN1,ECHDC3,EGR2,ENKUR,EPC1,ERCC6,FAM107B,FAM133CP,FAM13C,FAM170B,FAM171A1,FAM188A,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FLJ31813,FLJ45983,FRMD4A,FRMPD2,FRMPD2P1,FXYD4,FZD8,GAD2,GATA3,GDF10,GDF2,GJD4,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,HERC4,HNRNPA3P1,HNRNPF,HNRNPH3,HSD17B7P2,HSPA14,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,JMJD1C,KIAA1217,KIAA1462,KIF5B,KIN,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100506939,LOC100507605,LOC219731,LOC220906,LOC254312,LOC283033,LOC283070,LOC338579,LOC387647,LOC399744,LOC399753,LOC439950,LOC441666,LOC643650,LOC728407,LOC728643,LOC731789,LOC84856,LOC84989,LRRC18,LRRC37A6P,LRRTM3,LYZL1,LYZL2,M1,MAP3K8,MAPK8,MARCH8,MASTL,MBL2,MCM10,MEIG1,MIR1265,MIR1296,MIR1915,MIR3156-1,MIR3924,MIR4294,MIR4480,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR603,MIR604,MIR605,MIR938,MKX,MLLT10,MPP7,MRC1,MSMB,MSRB2,MTPAP,MTRNR2L5,MTRNR2L7,MYO3A,MYPN,NCOA4,NEBL,NMT2,NRBF2,NRP1,NSUN6,NUDT5,OGDHL,OLAH,OPTN,OR13A1,OTUD1,PARD3,PARG,PBLD,PCDH15,PDSS1,PGBD3,PHYH,PHYHIPL,PIP4K2A,PLXDC2,PPYR1,PRKG1,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBP3,REEP3,RET,RHOBTB1,RPP38,RSU1,RSU1P2,RTKN2,RUFY2,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SGMS1,SIRT1,SKIDA1,SLC16A9,SLC18A3,SLC25A16,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,SYT15,TAF3,TET1,TFAM,THNSL1,TIMM23,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TRDMT1,UBE2D1,UCMA,UPF2,USP6NL,VIM,VSTM4,WAC,WDFY4,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZWINT chr10 70452540 70453628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET1 chr10 70452750 70453574 Gain and loss Pancreatic cancer SNP array 17952125 TET1 chr10 70456336 70457318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 70502288 70502289 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 CCAR1 chr10 70517833 70534573 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CCAR1 chr10 70517833 70534573 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CCAR1 chr10 70517834 70534571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCAR1 chr10 70517834 70534571 Gain and loss Pancreatic cancer SNP array 17952125 CCAR1 chr10 70517834 70534571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCAR1 chr10 70521000 135283000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,AIFM2,ALDH18A1,ANAPC16,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA7,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ASCC1,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BMS1P4,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf105,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf35,C10orf54,C10orf55,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCNJ,CDH23,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,CHST15,CHST3,CHUK,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DLG5,DMBT1,DNAJB12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECD,ECHS1,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM149B1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,FUT11,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399815,LOC399829,LOC439990,LOC439994,LOC619207,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC728978,LOC729020,LOXL4,LRIT1,LRIT2,LRRC20,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSS51,MTG1,MXI1,MYOF,MYOZ1,NANOS1,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OIT3,OPALIN,OPN4,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PAX2,PCBD1,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PRAP1,PRDX3,PRF1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYNPO2L,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1 chr10 70532008 70576703 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCAR1 chr10 70553274 70602623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STOX1 chr10 70553274 70602623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STOX1 chr10 70553928 70602614 Gain and loss Pancreatic cancer SNP array 17952125 STOX1 chr10 70573011 72437415 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS14,AIFM2,C10orf35,COL13A1,DDX21,DDX50,EIF4EBP2,H2AFY2,HK1,HKDC1,KIAA1279,LRRC20,NEUROG3,NODAL,NPFFR1,PALD1,PPA1,PRF1,SAR1A,SRGN,STOX1,SUPV3L1,TACR2,TSPAN15,TYSND1,VPS26A chr10 70591292 70591668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STOX1 chr10 70592603 70592691 Gain and loss Pancreatic cancer SNP array 17952125 STOX1 chr10 70592603 70592691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STOX1 chr10 70596518 70598295 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 STOX1 chr10 70600000 135534747 Loss Paraganglioma CGH 17535989 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADAMTS14,ADD3,ADK,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,AIFM2,ALDH18A1,ANAPC16,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA7,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ASCC1,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BMS1P4,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf105,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf35,C10orf54,C10orf55,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CDH23,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,CHST15,CHST3,CHUK,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DDIT4,DDX21,DDX50,DHX32,DLG5,DMBT1,DNAJB12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUPD1,DUSP13,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,DYDC1,DYDC2,EBF3,ECD,ECHS1,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM149B1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRG2B,FUOM,FUT11,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1279,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399815,LOC399829,LOC439990,LOC439994,LOC619207,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC728978,LOC729020,LOXL4,LRIT1,LRIT2,LRRC20,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,MCU,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSS51,MTG1,MXI1,MYOF,MYOZ1,NANOS1,NDST2,NDUFB8,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT13,NUDT9P1,O3FAR1,OAT,OBFC1,OIT3,OPALIN,OPN4,P4HA1,PALD1,PANK1,PAOX,PAPSS2,PAX2,PCBD1,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PRAP1,PRDX3,PRF1,PRLHR,PSAP,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC29A3,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPOCK2,SPRN,SPRNP1,SRGN,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SYCE1,SYNPO2L,TACC2,TACR2,TAF5,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TTC40,TUBGCP2,TYSND1,UBTD1,UNC5B,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VPS26A,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1 chr10 70600000 74900000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 ADAMTS14,AIFM2,ANAPC16,ASCC1,C10orf105,C10orf35,C10orf54,CDH23,CHST3,COL13A1,DDIT4,DDX21,DDX50,DNAJB12,ECD,EIF4EBP2,H2AFY2,HK1,HKDC1,KIAA1279,LOC728978,LRRC20,MCU,MICU1,MIR1256,MIR4676,NEUROG3,NODAL,NPFFR1,NUDT13,OIT3,P4HA1,PALD1,PCBD1,PLA2G12B,PPA1,PRF1,PSAP,SAR1A,SGPL1,SLC29A3,SPOCK2,SRGN,STOX1,SUPV3L1,TACR2,TBATA,TSPAN15,TYSND1,UNC5B,VPS26A chr10 70600000 97000000 Loss Prostate cancer Array CGH 16573809 ACTA2,ADAMTS14,ADK,AGAP11,AGAP5,AIFM2,ANAPC16,ANKRD1,ANKRD22,ANXA11,ANXA7,AP3M1,ASCC1,ATAD1,BMPR1A,BMS1P4,BTAF1,C10orf105,C10orf11,C10orf116,C10orf129,C10orf35,C10orf54,C10orf55,C10orf57,C10orf99,CAMK2G,CDH23,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,CHST3,COL13A1,COMTD1,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DDIT4,DDX21,DDX50,DLG5,DNAJB12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,DYDC1,DYDC2,ECD,EIF4EBP2,EIF5AL1,EXOC6,FAM149B1,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,FUT11,GHITM,GLUD1,GLUD1P3,GRID1,GRID1-AS1,H2AFY2,HECTD2,HELLS,HHEX,HK1,HKDC1,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KAT6B,KCNMA1,KIAA0913,KIAA1279,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100188947,LOC100288974,LOC100507331,LOC170425,LOC219347,LOC283050,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728978,LRIT1,LRIT2,LRRC20,MARCH5,MARK2P9,MAT1A,MBL1P,MCU,MICU1,MINPP1,MIR107,MIR1256,MIR346,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MRPS16,MSS51,MYOF,MYOZ1,NDST2,NEUROG3,NOC3L,NODAL,NPFFR1,NRG3,NUDT13,NUDT9P1,O3FAR1,OIT3,OPN4,P4HA1,PALD1,PANK1,PAPSS2,PCBD1,PCGF5,PDE6C,PDLIM1,PIPSL,PLA2G12B,PLAC9,PLAU,PLCE1,POLR3A,PPA1,PPIF,PPP1R3C,PPP3CB,PRF1,PSAP,PTEN,RBP4,RGR,RNLS,RPP30,RPS24,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGPL1,SH2D4B,SLC16A12,SLC29A3,SLC35G1,SNCG,SPOCK2,SRGN,STAMBPL1,STOX1,SUPV3L1,SYNPO2L,TACR2,TBATA,TBC1D12,TNKS2,TSPAN14,TSPAN15,TTC18,TYSND1,UNC5B,USP54,VCL,VDAC2,VPS26A,WAPAL,ZCCHC24,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 70609999 70638853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STOX1 chr10 70609999 70638853 Gain and loss Pancreatic cancer SNP array 17952125 STOX1 chr10 70609999 70638853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STOX1 chr10 70650065 70697308 Gain and loss Pancreatic cancer SNP array 17952125 DDX50,STOX1 chr10 70650065 70697320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX50,STOX1 chr10 70650065 70697320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX50,STOX1 chr10 70666201 70670300 Deletion Glioma mate-paired sequence 20126413 DDX50 chr10 70668115 70668437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DDX50 chr10 70699762 70831641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX21,DDX50,KIAA1279 chr10 70699762 70831641 Gain and loss Pancreatic cancer SNP array 17952125 DDX21,DDX50,KIAA1279 chr10 70699762 70831641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX21,DDX50,KIAA1279 chr10 70730194 70730579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX21 chr10 70745001 71395500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf35,HK1,HKDC1,KIAA1279,NEUROG3,SRGN,SUPV3L1,TACR2,TSPAN15,VPS26A chr10 70793317 70793403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 70833665 70846680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 70833665 70846680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 70833963 70846680 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 70833963 70846680 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 70833963 70846680 Gain or loss Cancer - 20668451 NOT_FOUND chr10 70833963 70846680 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 70833963 70846680 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 70833963 70846680 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 70833963 70846680 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 70834429 70846607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 70846341 70896472 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 SRGN,VPS26A chr10 70861953 71252642 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HK1,HKDC1,SRGN,SUPV3L1,TACR2,TSPAN15,VPS26A chr10 70862734 70863133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGN chr10 70881232 70937429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS26A chr10 70881232 70937429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS26A chr10 70881236 70937429 Gain and loss Pancreatic cancer SNP array 17952125 VPS26A chr10 70908501 70944253 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUPV3L1,VPS26A chr10 70916474 70927929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS26A chr10 70933992 72216609 Loss or gain Normal 244K array 17666407 AIFM2,C10orf35,COL13A1,EIF4EBP2,H2AFY2,HK1,HKDC1,LRRC20,NEUROG3,NODAL,NPFFR1,PPA1,SAR1A,SUPV3L1,TACR2,TSPAN15,TYSND1 chr10 70939085 70973184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUPV3L1 chr10 70944074 70979477 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUPV3L1 chr10 70945213 70990185 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HKDC1,SUPV3L1 chr10 70946349 70962911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUPV3L1 chr10 70950792 70961060 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SUPV3L1 chr10 70951010 70961106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUPV3L1 chr10 70953073 70953412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUPV3L1 chr10 70984961 70985074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HKDC1 chr10 71001797 71003128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71001797 71003128 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71001797 71003128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71019642 71020117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71020271 71020338 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71020271 71020338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71020345 71021024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71021026 71021089 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71021026 71021089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71021094 71021163 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71021094 71021163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71021168 71022693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71022703 71022768 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71022768 71022834 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71022768 71022834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71022883 71022933 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71022883 71022933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71022935 71023003 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71022935 71023003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71023015 71023082 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71023015 71023082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71023803 71024694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71025039 71025107 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71025039 71025107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71025110 71025180 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71025178 71025246 Gain and loss Pancreatic cancer SNP array 17952125 HKDC1 chr10 71025178 71025246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71025249 71026198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKDC1 chr10 71033217 71067262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HK1 chr10 71060008 71063361 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 HK1 chr10 71060009 71063353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HK1 chr10 71060009 71063353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HK1 chr10 71060020 71063353 Gain and loss Pancreatic cancer SNP array 17952125 HK1 chr10 71077990 71078065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HK1 chr10 71098575 71098675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HK1 chr10 71105560 71105605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HK1 chr10 71134761 71136581 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HK1 chr10 7117047 7118306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 7117049 7118324 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 7117216 7118995 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 7117477 7117975 Loss or gain Normal 244K array 17666407 NOT_FOUND chr10 71208724 71209363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 71208724 71209600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 71209965 71210082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 71231650 71388909 Gain and loss Pancreatic cancer SNP array 17952125 NEUROG3,TSPAN15 chr10 71231650 71388910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEUROG3,TSPAN15 chr10 71231650 71388910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEUROG3,TSPAN15 chr10 71234506 71351772 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NEUROG3,TSPAN15 chr10 71258418 71281145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSPAN15 chr10 71300000 74600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS14,AIFM2,ANAPC16,ASCC1,C10orf105,C10orf35,C10orf54,CDH23,CHST3,COL13A1,DDIT4,DNAJB12,EIF4EBP2,H2AFY2,LOC728978,LRRC20,MCU,MICU1,MIR1256,MIR4676,NEUROG3,NODAL,NPFFR1,PALD1,PCBD1,PPA1,PRF1,PSAP,SAR1A,SGPL1,SLC29A3,SPOCK2,TBATA,TYSND1,UNC5B chr10 71300000 74600000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ADAMTS14,AIFM2,ANAPC16,ASCC1,C10orf105,C10orf35,C10orf54,CDH23,CHST3,COL13A1,DDIT4,DNAJB12,EIF4EBP2,H2AFY2,LOC728978,LRRC20,MCU,MICU1,MIR1256,MIR4676,NEUROG3,NODAL,NPFFR1,PALD1,PCBD1,PPA1,PRF1,PSAP,SAR1A,SGPL1,SLC29A3,SPOCK2,TBATA,TYSND1,UNC5B chr10 71300000 74600000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 ADAMTS14,AIFM2,ANAPC16,ASCC1,C10orf105,C10orf35,C10orf54,CDH23,CHST3,COL13A1,DDIT4,DNAJB12,EIF4EBP2,H2AFY2,LOC728978,LRRC20,MCU,MICU1,MIR1256,MIR4676,NEUROG3,NODAL,NPFFR1,PALD1,PCBD1,PPA1,PRF1,PSAP,SAR1A,SGPL1,SLC29A3,SPOCK2,TBATA,TYSND1,UNC5B chr10 71300000 74600000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ADAMTS14,AIFM2,ANAPC16,ASCC1,C10orf105,C10orf35,C10orf54,CDH23,CHST3,COL13A1,DDIT4,DNAJB12,EIF4EBP2,H2AFY2,LOC728978,LRRC20,MCU,MICU1,MIR1256,MIR4676,NEUROG3,NODAL,NPFFR1,PALD1,PCBD1,PPA1,PRF1,PSAP,SAR1A,SGPL1,SLC29A3,SPOCK2,TBATA,TYSND1,UNC5B chr10 71300000 82000000 Loss Non-small cell lung cancer In situ minichips 20864512 ADAMTS14,ADK,AGAP5,AIFM2,ANAPC16,ANXA11,ANXA7,AP3M1,ASCC1,BMS1P4,C10orf105,C10orf11,C10orf35,C10orf54,C10orf55,C10orf57,CAMK2G,CDH23,CHCHD1,CHST3,COL13A1,COMTD1,DDIT4,DLG5,DNAJB12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,EIF4EBP2,EIF5AL1,FAM149B1,FUT11,GLUD1P3,H2AFY2,KAT6B,KCNMA1,KIAA0913,LOC100128292,LOC100132987,LOC100288974,LOC100507331,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,LOC728978,LRRC20,MBL1P,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NDST2,NEUROG3,NODAL,NPFFR1,NUDT13,OIT3,P4HA1,PALD1,PCBD1,PLA2G12B,PLAC9,PLAU,POLR3A,PPA1,PPIF,PPP3CB,PRF1,PSAP,RPS24,SAMD8,SAR1A,SEC24C,SFTPA1,SFTPA2,SFTPD,SGPL1,SLC29A3,SPOCK2,SYNPO2L,TBATA,TTC18,TYSND1,UNC5B,USP54,VCL,VDAC2,ZCCHC24,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 71308571 71308737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 71308747 71308935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 71330289 71330398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 71343619 71562696 Gain and loss Pancreatic cancer SNP array 17952125 C10orf35,COL13A1 chr10 71344998 71345098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 71350491 71350582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 71482363 71542046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 71482363 71542046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 71482612 71542038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 71486923 71487023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 71527985 71562696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71527985 71562696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71535001 71576500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL13A1 chr10 71541763 71541969 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 71552203 71585749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COL13A1 chr10 71559073 71564164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL13A1 chr10 71567739 71576502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71567739 71576502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71567745 71576442 Gain and loss Pancreatic cancer SNP array 17952125 COL13A1 chr10 71572522 71572616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL13A1 chr10 71575164 71575264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL13A1 chr10 71579966 71600272 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 COL13A1 chr10 71579966 71600285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71579966 71600285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71579974 71600275 Gain and loss Pancreatic cancer SNP array 17952125 COL13A1 chr10 71593447 71593886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71609957 71610175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL13A1 chr10 71610162 71610412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL13A1 chr10 71628750 71629001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71632591 71663196 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 COL13A1 chr10 71632592 71663196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71632592 71663196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71632593 71663189 Gain and loss Pancreatic cancer SNP array 17952125 COL13A1 chr10 71668501 71670000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL13A1 chr10 71677499 71677599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL13A1 chr10 71681001 72216500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AIFM2,COL13A1,EIF4EBP2,H2AFY2,LRRC20,NODAL,NPFFR1,PPA1,SAR1A,TYSND1 chr10 71684719 71696160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71684719 71696160 Gain and loss Pancreatic cancer SNP array 17952125 COL13A1 chr10 71684719 71696160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL13A1 chr10 71725709 71725809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 71728734 71812388 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 H2AFY2 chr10 71728735 71812388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 H2AFY2 chr10 71728735 71812388 Gain and loss Pancreatic cancer SNP array 17952125 H2AFY2 chr10 71728735 71812388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H2AFY2 chr10 71760105 71779052 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 71781223 72515880 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS14,AIFM2,EIF4EBP2,H2AFY2,LRRC20,NODAL,NPFFR1,PALD1,PPA1,PRF1,SAR1A,TYSND1 chr10 71819188 71819928 Gain and loss Pancreatic cancer SNP array 17952125 H2AFY2 chr10 71819188 71819943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H2AFY2 chr10 71833052 71833143 Gain and loss Pancreatic cancer SNP array 17952125 H2AFY2 chr10 71833052 71833143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H2AFY2 chr10 71833928 71853675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 H2AFY2 chr10 71833928 71853675 Gain and loss Pancreatic cancer SNP array 17952125 H2AFY2 chr10 71833928 71853675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H2AFY2 chr10 71842647 71842747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 H2AFY2 chr10 71862077 71871429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 H2AFY2 chr10 71862077 71871429 Gain and loss Pancreatic cancer SNP array 17952125 H2AFY2 chr10 71862077 71871429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H2AFY2 chr10 71864637 71866318 Gain and loss Pancreatic cancer SNP array 17952125 H2AFY2 chr10 71901305 71901380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TYSND1 chr10 71904528 73262876 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ADAMTS14,CDH23,EIF4EBP2,LOC728978,LRRC20,NODAL,NPFFR1,PALD1,PCBD1,PPA1,PRF1,SAR1A,SGPL1,SLC29A3,TBATA,TYSND1,UNC5B chr10 71908570 71998185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPA1,SAR1A chr10 71908570 71998185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPA1,SAR1A chr10 71908577 71998211 Gain and loss Pancreatic cancer SNP array 17952125 PPA1,SAR1A chr10 71915098 71916087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAR1A chr10 71933137 71966413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPA1 chr10 71990162 72295747 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 EIF4EBP2,LRRC20,NODAL,NPFFR1,PALD1,PPA1 chr10 72000802 72000891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72012758 72012828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 72027110 72032537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPFFR1 chr10 72027110 72032537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPFFR1 chr10 72027111 72032520 Gain and loss Pancreatic cancer SNP array 17952125 NPFFR1 chr10 72051997 72052072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72102565 72190664 Gain and loss Pancreatic cancer SNP array 17952125 EIF4EBP2,LRRC20 chr10 72102565 72192203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF4EBP2,LRRC20,NODAL chr10 72102565 72192203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF4EBP2,LRRC20,NODAL chr10 72115904 72121162 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LRRC20 chr10 72118742 72121340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC20 chr10 72118824 72121307 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LRRC20 chr10 72143312 73316160 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADAMTS14,CDH23,EIF4EBP2,LOC728978,NODAL,PALD1,PCBD1,PRF1,SGPL1,SLC29A3,TBATA,UNC5B chr10 72182963 72184667 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 EIF4EBP2 chr10 72201001 72215163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NODAL chr10 72201001 72215163 Gain and loss Pancreatic cancer SNP array 17952125 NODAL chr10 72201001 72215163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NODAL chr10 72223992 72224285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 72245732 72310936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PALD1 chr10 72245732 72310936 Gain and loss Pancreatic cancer SNP array 17952125 PALD1 chr10 72245732 72310936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PALD1 chr10 72310009 73557240 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADAMTS14,C10orf105,C10orf54,CDH23,LOC728978,PALD1,PCBD1,PRF1,SGPL1,SLC29A3,TBATA,UNC5B chr10 72313272 72318547 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PALD1 chr10 72313273 72318547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PALD1 chr10 72313273 72318547 Gain and loss Pancreatic cancer SNP array 17952125 PALD1 chr10 72313273 72318547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PALD1 chr10 72331001 72375000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRF1 chr10 72348395 72348642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 7235121 7235185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFMBT2 chr10 72354649 72354729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72375001 72638500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTS14,SGPL1,TBATA chr10 7237622 7237717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFMBT2 chr10 72407412 76912067 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ADAMTS14,ADK,AGAP5,ANAPC16,ANXA7,AP3M1,ASCC1,BMS1P4,C10orf105,C10orf54,C10orf55,CAMK2G,CDH23,CHCHD1,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,FAM149B1,FUT11,GLUD1P3,KAT6B,KIAA0913,LOC100507331,LOC728978,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NDST2,NUDT13,OIT3,P4HA1,PCBD1,PLA2G12B,PLAU,PPP3CB,PSAP,SAMD8,SEC24C,SGPL1,SLC29A3,SPOCK2,SYNPO2L,TBATA,TTC18,UNC5B,USP54,VCL chr10 724412 724500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2C chr10 7244255 7491309 Gain and loss Pancreatic cancer SNP array 17952125 SFMBT2 chr10 7244255 7493456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SFMBT2 chr10 7244255 7493456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFMBT2 chr10 72504500 72504600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTS14 chr10 72536112 72554075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TBATA chr10 72579906 72580004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGPL1 chr10 7258619 7258719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFMBT2 chr10 72636128 72774965 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 PCBD1,SGPL1 chr10 72638501 72738500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PCBD1,SGPL1 chr10 72642298 72729684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCBD1 chr10 72642298 72729684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCBD1 chr10 72642298 72729703 Gain and loss Pancreatic cancer SNP array 17952125 PCBD1 chr10 72645563 72645634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCBD1 chr10 72650000 75730000 Deletion Sezary syndrome Array-based CGH 18413736 AGAP5,ANAPC16,ANXA7,ASCC1,BMS1P4,C10orf105,C10orf54,C10orf55,CAMK2G,CDH23,CHCHD1,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,FUT11,GLUD1P3,KIAA0913,LOC100507331,LOC728978,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NDST2,NUDT13,OIT3,P4HA1,PLA2G12B,PLAU,PPP3CB,PSAP,SEC24C,SLC29A3,SPOCK2,SYNPO2L,TTC18,UNC5B,USP54 chr10 72720593 72720693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72738501 73104500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC728978,SLC29A3,UNC5B chr10 72747322 72747412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72749038 72793146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 72749038 72793146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 72755092 72755193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 72755092 72755193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 72771818 72771918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72806646 72806725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72824816 72824861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72826697 73245659 Gain and loss Pancreatic cancer SNP array 17952125 CDH23,LOC728978,SLC29A3,UNC5B chr10 72826697 73245708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH23,LOC728978,SLC29A3,UNC5B chr10 72826697 73245708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH23,LOC728978,SLC29A3,UNC5B chr10 72826709 73245710 Deletion Usher type I cohort CGH-microarray chip 21436283 CDH23,LOC728978,SLC29A3,UNC5B chr10 72826709 73245710 Deletion Usher type I cohort multiplex ligation-dependent probe amplification(MLPA) has been designed by MRC-Holland 21436283 CDH23,LOC728978,SLC29A3,UNC5B chr10 72832502 72832587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 72852590 72884967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 72886166 72886310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 72926588 72926707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 7295873 7295947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFMBT2 chr10 72976566 72976666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC5B chr10 72978414 73009984 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC5B chr10 72978621 73012765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UNC5B chr10 72992824 72997328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UNC5B chr10 73000000 81800000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ADK,AGAP5,ANAPC16,ANXA7,AP3M1,ASCC1,BMS1P4,C10orf105,C10orf11,C10orf54,C10orf55,CAMK2G,CDH23,CHCHD1,CHST3,COMTD1,DDIT4,DLG5,DNAJB12,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,EIF5AL1,FAM149B1,FUT11,GLUD1P3,KAT6B,KCNMA1,KIAA0913,LOC100128292,LOC100132987,LOC100288974,LOC100507331,LOC283050,LOC642361,LOC650623,MBL1P,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NDST2,NUDT13,OIT3,P4HA1,PLA2G12B,PLAU,POLR3A,PPIF,PPP3CB,PSAP,RPS24,SAMD8,SEC24C,SFTPA1,SFTPA2,SFTPD,SLC29A3,SPOCK2,SYNPO2L,TTC18,UNC5B,USP54,VCL,VDAC2,ZCCHC24,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 73012796 73012896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC5B chr10 73018289 73018384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC5B chr10 73100582 73100677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC29A3 chr10 73104501 73250000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH23,SLC29A3 chr10 73110564 73110664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC29A3 chr10 73121579 73231404 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CDH23,SLC29A3 chr10 73128313 73128387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 73141465 73167587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH23 chr10 73141473 73167587 Gain and loss Pancreatic cancer SNP array 17952125 CDH23 chr10 73162085 73217137 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDH23 chr10 73163531 73191584 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDH23 chr10 73168421 73191584 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDH23 chr10 73170161 73191584 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDH23 chr10 73170355 73191584 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDH23 chr10 73177318 73203343 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH23 chr10 73177319 73203343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH23 chr10 73177319 73203343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH23 chr10 73177322 73203343 Gain and loss Pancreatic cancer SNP array 17952125 CDH23 chr10 73184791 73184891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73193321 73193547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73193426 73193544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73193533 73193757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73193535 73193635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73199052 73199137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73246061 73281132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH23 chr10 73246061 73281132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH23 chr10 73246064 73281015 Gain and loss Pancreatic cancer SNP array 17952125 CDH23 chr10 73250001 73490500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf105,CDH23 chr10 73257168 73257268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73274498 73274558 Gain and loss Pancreatic cancer SNP array 17952125 CDH23 chr10 73274727 73274823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73305931 73306016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73312583 73312683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73316160 74391172 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ANAPC16,ASCC1,C10orf105,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,MICU1,MIR1256,PSAP,SPOCK2 chr10 73378916 74491264 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,C10orf105,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,MCU,MICU1,MIR1256,MIR4676,PSAP,SPOCK2 chr10 73392192 75071602 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,C10orf105,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,PSAP,SPOCK2,TTC18 chr10 73394126 73443318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH23 chr10 73394126 73443318 Gain and loss Pancreatic cancer SNP array 17952125 CDH23 chr10 73394126 73443318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH23 chr10 73408382 73441835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH23 chr10 73410950 73411020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73440768 73441086 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CDH23 chr10 73469199 73469293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73488798 73518773 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 C10orf105,C10orf54,CDH23 chr10 73488799 73518773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf105,C10orf54,CDH23 chr10 73488799 73518773 Gain and loss Pancreatic cancer SNP array 17952125 C10orf105,C10orf54,CDH23 chr10 73488799 73518773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf105,C10orf54,CDH23 chr10 73488995 75289985 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ANXA7,ASCC1,C10orf105,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,PSAP,SPOCK2,TTC18,USP54 chr10 73490501 73519000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf105,C10orf54,CDH23 chr10 73490772 75078968 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,C10orf105,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,PSAP,SPOCK2,TTC18 chr10 73492140 75078968 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,C10orf105,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,PSAP,SPOCK2,TTC18 chr10 73493861 75112686 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,C10orf105,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,PSAP,SPOCK2,TTC18 chr10 73494663 73494966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C10orf105,CDH23 chr10 73497547 75445169 LOH Normal High-resolution SNP genotyping 21211785 AGAP5,ANAPC16,ANXA7,ASCC1,C10orf105,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,PSAP,SPOCK2,SYNPO2L,TTC18,USP54 chr10 73511658 75078968 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,PSAP,SPOCK2,TTC18 chr10 73515990 73518796 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C10orf54,CDH23 chr10 73517684 75112686 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,PSAP,SPOCK2,TTC18 chr10 73517684 75374060 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ANXA7,ASCC1,C10orf54,CDH23,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,PSAP,SPOCK2,TTC18,USP54 chr10 73526284 73646052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf54,CDH23,PSAP chr10 73526284 73646052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf54,CDH23,PSAP chr10 73526286 73646052 Gain and loss Pancreatic cancer SNP array 17952125 C10orf54,CDH23,PSAP chr10 7352786 7946220 LOH Normal High-resolution SNP genotyping 21211785 ATP5C1,ITIH2,ITIH5,KIN,SFMBT2,TAF3 chr10 73528460 73528555 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 C10orf54,CDH23 chr10 73531807 73531892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf54,CDH23 chr10 73532154 73535907 Gain Normal Birdsuite, version 1.5.2 22087296 C10orf54,CDH23 chr10 73532270 73532346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf54,CDH23 chr10 73543893 73543993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 7355095 7452885 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 SFMBT2 chr10 73575445 73575508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH23 chr10 73580802 75112686 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,PSAP,SPOCK2,TTC18 chr10 73580802 75400204 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ANXA7,ASCC1,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,PSAP,SPOCK2,TTC18,USP54 chr10 73608023 75071602 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,PSAP,SPOCK2,TTC18 chr10 73610622 73610739 Gain and loss Pancreatic cancer SNP array 17952125 PSAP chr10 73610622 73610752 Gain and loss Pancreatic cancer SNP array 17952125 PSAP chr10 73610622 73610753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSAP chr10 73616048 73616126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 73619705 73620340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 73619705 73620340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 73629854 73693727 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 73635001 73636000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 73645812 73665622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 73645812 73665622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 73645812 73665622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 73650516 73650612 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 73650516 73650614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 73650516 73650616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 73684501 73785000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHST3 chr10 73703683 73705803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 73703683 73705803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 73703684 73705794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 73711323 75065817 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ASCC1,CHST3,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,NUDT13,OIT3,P4HA1,PLA2G12B,SPOCK2,TTC18 chr10 73762593 73784875 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CHST3 chr10 73762594 73784875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHST3 chr10 73762594 73784875 Gain and loss Pancreatic cancer SNP array 17952125 CHST3 chr10 73762594 73784875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST3 chr10 7377074 7377258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFMBT2 chr10 73797104 74055867 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC16,ASCC1,DDIT4,SPOCK2 chr10 73797104 74055905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANAPC16,ASCC1,DDIT4,SPOCK2 chr10 73797104 74055905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC16,ASCC1,DDIT4,SPOCK2 chr10 73821728 73821832 Gain and loss Pancreatic cancer SNP array 17952125 SPOCK2 chr10 73821728 73821833 Gain and loss Pancreatic cancer SNP array 17952125 SPOCK2 chr10 73821728 73821833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPOCK2 chr10 73850028 75245027 LOH Normal High-resolution SNP genotyping 21211785 ANAPC16,ANXA7,ASCC1,DDIT4,DNAJB12,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,TTC18 chr10 73873925 73874025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASCC1 chr10 739475 739575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 73990028 73990220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC16 chr10 74012567 74012848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 74012568 74012850 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 74012568 74012850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 74066261 74066529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 74072775 74074414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 74083929 74084040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 74083931 74084040 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 74083933 74084039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 7409338 7409431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFMBT2 chr10 74095450 74095527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJB12 chr10 74105644 74277126 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DNAJB12,MICU1,MIR1256 chr10 74121895 74317456 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICU1,MIR1256 chr10 74121895 74317456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICU1,MIR1256 chr10 74121895 74317456 Gain and loss Pancreatic cancer SNP array 17952125 MICU1,MIR1256 chr10 74121895 74317456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICU1,MIR1256 chr10 74126166 74126240 Gain and loss Pancreatic cancer SNP array 17952125 MIR1256 chr10 74126166 74126240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR1256 chr10 7416261 7428058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SFMBT2 chr10 74181803 74181872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICU1,MIR1256 chr10 74222697 74222797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICU1,MIR1256 chr10 74250764 74250843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICU1,MIR1256 chr10 74265645 74265745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICU1,MIR1256 chr10 7428071 8715906 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP5C1,FLJ45983,GATA3,ITIH2,ITIH5,KIN,SFMBT2,TAF3 chr10 74287804 74319736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MICU1,MIR1256 chr10 74291218 75988704 LOH Normal High-resolution SNP genotyping 21211785 ADK,AGAP5,ANXA7,AP3M1,BMS1P4,C10orf55,CAMK2G,CHCHD1,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,FUT11,GLUD1P3,KIAA0913,LOC100507331,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NDST2,NUDT13,OIT3,P4HA1,PLA2G12B,PLAU,PPP3CB,SEC24C,SYNPO2L,TTC18,USP54,VCL chr10 7430590 24920177 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACBD7,ARHGAP21,ARL5B,ARMC3,ATP5C1,BEND7,BMI1,C10orf111,C10orf113,C10orf114,C10orf47,C10orf67,C1QL3,CACNB2,CAMK1D,CCDC3,CDC123,CDNF,CELF2,COMMD3,COMMD3-BMI1,CUBN,DCLRE1C,DHTKD1,DNAJC1,EBLN1,ECHDC3,FAM107B,FAM171A1,FAM188A,FLJ45983,FRMD4A,GATA3,HSPA14,ITGA8,ITIH2,ITIH5,KIAA1217,KIN,LOC100128098,LOC100128511,LOC100129213,LOC100130992,LOC100192204,LOC100499489,LOC219731,LOC254312,LOC283070,LOC439950,MCM10,MEIG1,MIR1265,MIR1915,MIR4480,MIR4675,MIR511-1,MIR511-2,MIR603,MLLT10,MRC1,MSRB2,NEBL,NMT2,NSUN6,NUDT5,OLAH,OPTN,OTUD1,PHYH,PIP4K2A,PLXDC2,PRPF18,PTER,PTF1A,PTPLA,RPP38,RSU1,SEC61A2,SEPHS1,SFMBT2,SFTA1P,SKIDA1,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,TAF3,TMEM236,TRDMT1,UCMA,UPF2,USP6NL,VIM chr10 74305919 74306019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICU1,MIR1256 chr10 74323345 74362793 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICU1,MIR1256 chr10 74323345 74362793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICU1,MIR1256 chr10 74323345 74362793 Gain and loss Pancreatic cancer SNP array 17952125 MICU1,MIR1256 chr10 74323345 74362793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICU1,MIR1256 chr10 74331578 75245027 LOH Normal High-resolution SNP genotyping 21211785 ANXA7,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,TTC18 chr10 74331578 75400204 LOH Normal High-resolution SNP genotyping 21211785 ANXA7,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,TTC18,USP54 chr10 74331578 76713960 LOH Normal High-resolution SNP genotyping 21211785 ADK,AGAP5,ANXA7,AP3M1,BMS1P4,C10orf55,CAMK2G,CHCHD1,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,FUT11,GLUD1P3,KAT6B,KIAA0913,LOC100507331,MCU,MICU1,MIR1256,MIR4676,MRPS16,MSS51,MYOZ1,NDST2,NUDT13,OIT3,P4HA1,PLA2G12B,PLAU,PPP3CB,SEC24C,SYNPO2L,TTC18,USP54,VCL chr10 74347405 74348298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICU1 chr10 74364951 74384542 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICU1 chr10 74364951 74384542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICU1 chr10 74364951 74384542 Gain and loss Pancreatic cancer SNP array 17952125 MICU1 chr10 74364951 74384542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICU1 chr10 74391172 75333936 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ANXA7,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MIR4676,MRPS16,MSS51,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,TTC18,USP54 chr10 74396501 74398500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 74410501 74412000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 74435595 74436362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 74435597 74436359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 74436981 74526630 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MCU,MIR4676 chr10 74436981 74526630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCU,MIR4676 chr10 74436981 74526630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU,MIR4676 chr10 74436988 74526630 Gain and loss Pancreatic cancer SNP array 17952125 MCU,MIR4676 chr10 74456637 74456737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCU chr10 74468378 74468689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MCU chr10 74484197 74484297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCU chr10 74494890 74495231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74500289 74500396 Gain and loss Pancreatic cancer SNP array 17952125 MCU chr10 74500289 74500396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74512258 74512359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74512260 74512359 Gain and loss Pancreatic cancer SNP array 17952125 MCU chr10 74512261 74512359 Gain and loss Pancreatic cancer SNP array 17952125 MCU chr10 74512615 74512837 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MCU chr10 74527808 74531061 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MCU chr10 74527808 74531061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74538467 76347188 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-637K arrays 21546498 ADK,AGAP5,ANXA7,AP3M1,BMS1P4,C10orf55,CAMK2G,CHCHD1,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,FUT11,GLUD1P3,KIAA0913,LOC100507331,MCU,MRPS16,MSS51,MYOZ1,NDST2,NUDT13,OIT3,P4HA1,PLA2G12B,PLAU,PPP3CB,SEC24C,SYNPO2L,TTC18,USP54,VCL chr10 74540216 74561584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MCU chr10 74540216 74561584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74540216 74561584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74540216 74561586 Gain and loss Pancreatic cancer SNP array 17952125 MCU chr10 74554867 74555031 Gain and loss Pancreatic cancer SNP array 17952125 MCU chr10 74555844 74555971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74560456 82020637 Amplification Cancer Affymetrix 250K Sty array 20164920 ADK,AGAP5,ANXA11,ANXA7,AP3M1,BMS1P4,C10orf11,C10orf55,C10orf57,CAMK2G,CHCHD1,COMTD1,DLG5,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,EIF5AL1,FAM149B1,FUT11,GLUD1P3,KAT6B,KCNMA1,KIAA0913,LOC100128292,LOC100132987,LOC100288974,LOC100507331,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MBL1P,MCU,MRPS16,MSS51,MYOZ1,NDST2,NUDT13,OIT3,P4HA1,PLA2G12B,PLAC9,PLAU,POLR3A,PPIF,PPP3CB,RPS24,SAMD8,SEC24C,SFTPA1,SFTPA2,SFTPD,SYNPO2L,TTC18,USP54,VCL,VDAC2,ZCCHC24,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 74564289 74597823 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MCU chr10 74564289 74597823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74564289 74597823 Gain and loss Pancreatic cancer SNP array 17952125 MCU chr10 74564289 74597823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74569270 75484700 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGAP5,ANXA7,BMS1P4,DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MCU,MRPS16,MSS51,MYOZ1,NUDT13,OIT3,P4HA1,PLA2G12B,PPP3CB,SYNPO2L,TTC18,USP54 chr10 74570596 74610248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MCU chr10 74597930 74674268 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MCU,OIT3 chr10 74597930 74674268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCU,OIT3 chr10 74597930 74674268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU,OIT3 chr10 74600000 98000000 Loss Prostate cancer Array CGH 16573809 ACTA2,ADK,AGAP11,AGAP5,ALDH18A1,ANKRD1,ANKRD22,ANXA11,ANXA7,AP3M1,ATAD1,BLNK,BMPR1A,BMS1P4,BTAF1,C10orf11,C10orf116,C10orf129,C10orf131,C10orf55,C10orf57,C10orf99,CAMK2G,CC2D2B,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,COMTD1,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DLG5,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,DYDC1,DYDC2,ECD,EIF5AL1,ENTPD1,EXOC6,FAM149B1,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,FUT11,GHITM,GLUD1,GLUD1P3,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KAT6B,KCNMA1,KIAA0913,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100188947,LOC100288974,LOC100507331,LOC170425,LOC219347,LOC283050,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MBL1P,MCU,MINPP1,MIR107,MIR3157,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MRPS16,MSS51,MYOF,MYOZ1,NDST2,NOC3L,NRG3,NUDT13,NUDT9P1,O3FAR1,OIT3,OPN4,P4HA1,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLA2G12B,PLAC9,PLAU,PLCE1,POLR3A,PPIF,PPP1R3C,PPP3CB,PTEN,RBP4,RGR,RNLS,RPP30,RPS24,SAMD8,SEC24C,SFTPA1,SFTPA2,SFTPD,SH2D4B,SLC16A12,SLC35G1,SNCG,SORBS1,STAMBPL1,SYNPO2L,TBC1D12,TCTN3,TNKS2,TSPAN14,TTC18,USP54,VCL,VDAC2,WAPAL,ZCCHC24,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A chr10 74604455 74674268 Gain and loss Pancreatic cancer SNP array 17952125 MCU,OIT3 chr10 74621987 74622089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 74621989 74622089 Gain and loss Pancreatic cancer SNP array 17952125 MCU chr10 74621990 74622089 Gain and loss Pancreatic cancer SNP array 17952125 MCU chr10 74629590 74630989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCU chr10 7463502 7777745 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ITIH2,ITIH5 chr10 74647208 74647308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCU chr10 74672587 74677031 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 OIT3 chr10 74672596 74678626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OIT3 chr10 74672596 74678626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OIT3 chr10 74672596 74678626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OIT3 chr10 74672596 74682388 Gain and loss Pancreatic cancer SNP array 17952125 OIT3 chr10 74676700 74679122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OIT3 chr10 74678609 74682457 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OIT3 chr10 74678609 74682457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OIT3 chr10 74678609 74682457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OIT3 chr10 74683526 74789458 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OIT3,P4HA1,PLA2G12B chr10 74683526 74789458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OIT3,P4HA1,PLA2G12B chr10 74683526 74789458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OIT3,P4HA1,PLA2G12B chr10 74683530 74788618 Gain and loss Pancreatic cancer SNP array 17952125 OIT3,P4HA1,PLA2G12B chr10 74708826 74708931 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G12B chr10 74708826 74708932 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G12B chr10 74708826 74708932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G12B chr10 74731546 74731648 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 74731546 74731648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 74742212 74742312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 74776700 74776810 Gain and loss Pancreatic cancer SNP array 17952125 P4HA1 chr10 74776700 74776812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HA1 chr10 74805194 74843847 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 P4HA1 chr10 74805230 74843814 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 P4HA1 chr10 74805230 74843817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P4HA1 chr10 74805230 74843817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HA1 chr10 74805248 74843814 Gain and loss Pancreatic cancer SNP array 17952125 P4HA1 chr10 74846976 81118514 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADK,AGAP5,ANXA7,AP3M1,BMS1P4,C10orf11,C10orf55,CAMK2G,CHCHD1,COMTD1,DLG5,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,ECD,FAM149B1,FUT11,GLUD1P3,KAT6B,KCNMA1,KIAA0913,LOC100128292,LOC100132987,LOC100507331,LOC283050,MRPS16,MSS51,MYOZ1,NDST2,NUDT13,P4HA1,PLAU,POLR3A,PPIF,PPP3CB,RPS24,SAMD8,SEC24C,SYNPO2L,TTC18,USP54,VCL,VDAC2,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 74847596 74847928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 P4HA1 chr10 74852023 74852460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HA1 chr10 74853345 74863324 Gain and loss Pancreatic cancer SNP array 17952125 P4HA1 chr10 74853345 74863325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 P4HA1 chr10 74853345 74863325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P4HA1 chr10 74853345 74863325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HA1 chr10 74866570 74925765 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ECD,NUDT13 chr10 74866570 74925765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ECD,NUDT13 chr10 74866570 74925765 Gain and loss Pancreatic cancer SNP array 17952125 ECD,NUDT13 chr10 74866570 74925765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECD,NUDT13 chr10 74897375 74900800 Loss Autism 1M Ailent CGH whole-genome array 21865298 ECD chr10 74900000 135534747 Loss Gastrointestinal stromal cancer CGH 17535989 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADK,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ANXA11,ANXA7,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BMS1P4,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf55,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DLG5,DMBT1,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUPD1,DUSP13,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,DYDC1,DYDC2,EBF3,ECD,ECHS1,EIF3A,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM149B1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRG2B,FUOM,FUT11,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399815,LOC399829,LOC439990,LOC439994,LOC619207,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRIT1,LRIT2,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,METTL10,MGEA5,MGMT,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MRPS16,MSS51,MTG1,MXI1,MYOF,MYOZ1,NANOS1,NDST2,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,OPN4,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,SAMD8,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,SPRNP1,STAMBPL1,STK32C,SUFU,SYCE1,SYNPO2L,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TTC18,TTC40,TUBGCP2,UBTD1,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1 chr10 74900000 97000000 Loss Prostate cancer Array CGH 16573809 ACTA2,ADK,AGAP11,AGAP5,ANKRD1,ANKRD22,ANXA11,ANXA7,AP3M1,ATAD1,BMPR1A,BMS1P4,BTAF1,C10orf11,C10orf116,C10orf129,C10orf55,C10orf57,C10orf99,CAMK2G,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,COMTD1,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DLG5,DNAJC9,DNAJC9-AS1,DUPD1,DUSP13,DYDC1,DYDC2,ECD,EIF5AL1,EXOC6,FAM149B1,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,FUT11,GHITM,GLUD1,GLUD1P3,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KAT6B,KCNMA1,KIAA0913,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100188947,LOC100288974,LOC100507331,LOC170425,LOC219347,LOC283050,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MBL1P,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MRPS16,MSS51,MYOF,MYOZ1,NDST2,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLAC9,PLAU,PLCE1,POLR3A,PPIF,PPP1R3C,PPP3CB,PTEN,RBP4,RGR,RNLS,RPP30,RPS24,SAMD8,SEC24C,SFTPA1,SFTPA2,SFTPD,SH2D4B,SLC16A12,SLC35G1,SNCG,STAMBPL1,SYNPO2L,TBC1D12,TNKS2,TSPAN14,TTC18,USP54,VCL,VDAC2,WAPAL,ZCCHC24,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 74927301 75006101 Copy number Lung cancer - 20668451 DNAJC9,ECD,FAM149B1 chr10 74927301 75006101 Gain or loss Breast cancer - 20668451 DNAJC9,ECD,FAM149B1 chr10 74927301 75006101 Gain or loss Cancer - 20668451 DNAJC9,ECD,FAM149B1 chr10 74927301 75006101 Gain or loss Lung cancer - 20668451 DNAJC9,ECD,FAM149B1 chr10 74927301 75006101 Gain or loss Ovarian cancer - 20668451 DNAJC9,ECD,FAM149B1 chr10 74927301 75006101 Gain or loss Pancreas cancer - 20668451 DNAJC9,ECD,FAM149B1 chr10 74927301 75006101 Gain or loss Prostate cancer - 20668451 DNAJC9,ECD,FAM149B1 chr10 74927302 75055414 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MRPS16,TTC18 chr10 74927302 75055414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MRPS16,TTC18 chr10 74927302 75055414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC9,DNAJC9-AS1,ECD,FAM149B1,MRPS16,TTC18 chr10 74927304 75006101 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC9,ECD,FAM149B1 chr10 74951062 74951123 Gain and loss Pancreatic cancer SNP array 17952125 FAM149B1 chr10 74951062 74951123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM149B1 chr10 74958815 74958921 Gain and loss Pancreatic cancer SNP array 17952125 FAM149B1 chr10 74958815 74958921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM149B1 chr10 74961876 75140051 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ANXA7,DNAJC9,DNAJC9-AS1,FAM149B1,MRPS16,TTC18 chr10 74967567 74968155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM149B1 chr10 75000157 75000245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM149B1 chr10 75035036 75070025 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAJC9-AS1,TTC18 chr10 75040359 75091818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TTC18 chr10 75061420 75071514 Gain and loss Pancreatic cancer SNP array 17952125 TTC18 chr10 75061420 75071521 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TTC18 chr10 75061420 75071521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC18 chr10 75061420 75071521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC18 chr10 75061501 75375000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANXA7,MSS51,PPP3CB,TTC18,USP54 chr10 75066 63577609 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 A1CF,ABI1,ACBD5,ACBD7,ACTR3BP5,ADARB2,ADARB2-AS1,AGAP4,AGAP6,AGAP7,AGAP8,AGAP9,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALOX5,ANK3,ANKRD16,ANKRD26,ANKRD30A,ANXA8,ANXA8L1,ANXA8L2,APBB1IP,ARHGAP12,ARHGAP21,ARHGAP22,ARL5B,ARMC3,ARMC4,ASAH2,ASAH2B,ASB13,ATP5C1,BAMBI,BEND7,BICC1,BMI1,BMS1,BMS1P1,BMS1P2,BMS1P5,BMS1P6,C10orf10,C10orf107,C10orf108,C10orf111,C10orf113,C10orf114,C10orf128,C10orf25,C10orf40,C10orf47,C10orf53,C10orf67,C10orf68,C10orf71,C1QL3,CACNB2,CALML3,CALML5,CAMK1D,CCDC3,CCDC6,CCDC7,CCNY,CDC123,CDK1,CDNF,CELF2,CHAT,CISD1,COMMD3,COMMD3-BMI1,CREM,CSGALNACT2,CSTF2T,CTSL1P2,CUBN,CUL2,CXCL12,DCLRE1C,DHTKD1,DIP2C,DKK1,DNAJC1,DRGX,EBLN1,ECHDC3,ENKUR,EPC1,ERCC6,FAM107B,FAM133CP,FAM13C,FAM170B,FAM171A1,FAM188A,FAM208B,FAM21A,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FBXO18,FLJ31813,FLJ45983,FRMD4A,FRMPD2,FRMPD2P1,FXYD4,FZD8,GAD2,GATA3,GDF10,GDF2,GDI2,GJD4,GLUD1P7,GPR158,GPR158-AS1,GPRIN2,GTPBP4,HNRNPA3P1,HNRNPF,HSD17B7P2,HSPA14,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,KIAA1217,KIAA1462,KIF5B,KIN,KLF6,LARP4B,LINC00200,LINC00202,LINC00264,LINC00619,LOC100128098,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100192204,LOC100216001,LOC100419868,LOC100499489,LOC100505583,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507605,LOC219731,LOC220906,LOC254312,LOC282980,LOC283033,LOC283070,LOC338579,LOC338588,LOC387647,LOC399708,LOC399715,LOC399744,LOC399753,LOC439949,LOC439950,LOC441666,LOC643650,LOC728407,LOC728643,LOC731789,LOC84856,LRRC18,LRRC37A6P,LYZL1,LYZL2,M1,MAP3K8,MAPK8,MARCH8,MASTL,MBL2,MCM10,MEIG1,MIR1265,MIR1915,MIR3155A,MIR3155B,MIR3156-1,MIR3924,MIR4294,MIR4480,MIR4675,MIR4683,MIR5100,MIR511-1,MIR511-2,MIR5586,MIR5699,MIR603,MIR604,MIR605,MIR938,MKX,MLLT10,MPP7,MRC1,MSMB,MSRB2,MTPAP,MTRNR2L5,MTRNR2L7,MYO3A,NCOA4,NEBL,NET1,NMT2,NRP1,NSUN6,NUDT5,OGDHL,OLAH,OPTN,OR13A1,OTUD1,PARD3,PARG,PCDH15,PDSS1,PFKFB3,PFKP,PGBD3,PHYH,PHYHIPL,PIP4K2A,PITRM1,PLXDC2,PPYR1,PRKCQ,PRKG1,PRPF18,PRTFDC1,PTCHD3,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,RAB18,RASGEF1A,RASSF4,RBM17,RBP3,RET,RHOBTB1,RPP38,RSU1,RSU1P2,SEC61A2,SEPHS1,SEPT7L,SFMBT2,SFTA1P,SGMS1,SKIDA1,SLC16A9,SLC18A3,SLC39A12,SPAG6,ST8SIA6,STAM,SUV39H2,SVIL,SYT15,TAF3,TAKR,TFAM,THNSL1,TIMM23,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TRDMT1,TUBAL3,TUBB8,UBE2D1,UCMA,UCN3,UPF2,USP6NL,VIM,VSTM4,WAC,WDFY4,WDR37,YME1L1,ZEB1,ZEB1-AS1,ZFAND4,ZMYND11,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZWINT chr10 75071512 75071612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC18 chr10 75074645 75085838 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TTC18 chr10 75074645 75085838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC18 chr10 75074645 75085838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC18 chr10 75075296 75080793 Gain and loss Pancreatic cancer SNP array 17952125 TTC18 chr10 75104049 75127645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC18 chr10 75104049 75127645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC18 chr10 75104051 75127645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TTC18 chr10 75104060 75133724 Gain and loss Pancreatic cancer SNP array 17952125 TTC18 chr10 75106000 75143358 Duplication Non-syndromic sensorineural hearing loss References 19212409 ANXA7,TTC18 chr10 75140950 75572183 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 AGAP5,ANXA7,BMS1P4,CHCHD1,FUT11,GLUD1P3,KIAA0913,LOC100507331,MSS51,MYOZ1,NDST2,PPP3CB,SEC24C,SYNPO2L,USP54 chr10 75146879 75158344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANXA7 chr10 75146879 75158344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA7 chr10 75146887 75160233 Gain and loss Pancreatic cancer SNP array 17952125 ANXA7 chr10 75160940 75167075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA7 chr10 75161588 75163402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA7 chr10 75174138 75201923 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSS51,PPP3CB chr10 75174138 75201923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSS51,PPP3CB chr10 75174138 75201923 Gain and loss Pancreatic cancer SNP array 17952125 MSS51,PPP3CB chr10 75174138 75201923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSS51,PPP3CB chr10 75202054 75205982 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 PPP3CB chr10 75202055 75205980 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP3CB chr10 75202055 75205980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75202055 75205980 Gain and loss Pancreatic cancer SNP array 17952125 PPP3CB chr10 75202055 75205980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75211811 75213135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75211811 75213135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75211811 75213412 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP3CB chr10 75211813 75213412 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PPP3CB chr10 75211827 75213128 Gain and loss Pancreatic cancer SNP array 17952125 PPP3CB chr10 75215426 75231556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75215426 75231556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75215643 75216020 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP3CB chr10 75215643 75216020 Gain and loss Pancreatic cancer SNP array 17952125 PPP3CB chr10 75219949 75231556 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP3CB chr10 75219949 75231556 Gain and loss Pancreatic cancer SNP array 17952125 PPP3CB chr10 75231675 75238495 Gain and loss Pancreatic cancer SNP array 17952125 PPP3CB chr10 75231675 75241348 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP3CB chr10 75231675 75241348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75231675 75241348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75240456 75241549 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP3CB chr10 75240456 75241549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75240456 75241549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB chr10 75240562 75240662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP3CB chr10 75240642 75241547 Gain and loss Pancreatic cancer SNP array 17952125 PPP3CB chr10 75242265 75304349 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP3CB,USP54 chr10 75242265 75304349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB,USP54 chr10 75242265 75304349 Gain and loss Pancreatic cancer SNP array 17952125 PPP3CB,USP54 chr10 75242265 75304349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP3CB,USP54 chr10 75260524 75260620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP54 chr10 75266020 135228726 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADK,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP5,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ANXA11,AP3M1,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BMS1P4,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf55,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CAMK2G,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHCHD1,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DHX32,DLG5,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,ECHS1,EIF3A,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,FUT11,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GLUD1P3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC100507331,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399815,LOC399829,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRIT1,LRIT2,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,METTL10,MGEA5,MGMT,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MTG1,MXI1,MYOF,MYOZ1,NANOS1,NDST2,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,OPN4,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,SAMD8,SCD,SEC23IP,SEC24C,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,STAMBPL1,STK32C,SUFU,SYNPO2L,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TTC40,TUBGCP2,UBTD1,UROS,USMG5,USP54,UTF1,VAX1,VCL,VDAC2,VENTX,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF511,ZNF518A,ZRANB1 chr10 75289072 75821758 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGAP5,BMS1P4,C10orf55,CAMK2G,CHCHD1,FUT11,GLUD1P3,KIAA0913,LOC100507331,MYOZ1,NDST2,PLAU,SEC24C,SYNPO2L,USP54,VCL chr10 75290471 75324175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USP54 chr10 75323129 76483057 LOH Normal High-resolution SNP genotyping 21211785 ADK,AGAP5,AP3M1,BMS1P4,C10orf55,CAMK2G,CHCHD1,FUT11,GLUD1P3,KIAA0913,LOC100507331,MYOZ1,NDST2,PLAU,SEC24C,SYNPO2L,USP54,VCL chr10 75323129 76485655 LOH Normal High-resolution SNP genotyping 21211785 ADK,AGAP5,AP3M1,BMS1P4,C10orf55,CAMK2G,CHCHD1,FUT11,GLUD1P3,KIAA0913,LOC100507331,MYOZ1,NDST2,PLAU,SEC24C,SYNPO2L,USP54,VCL chr10 75328946 75329067 Duplication Platelet disorder - 20007542 USP54 chr10 75333936 76299818 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ADK,AGAP5,AP3M1,BMS1P4,C10orf55,CAMK2G,CHCHD1,FUT11,GLUD1P3,KIAA0913,LOC100507331,MYOZ1,NDST2,PLAU,SEC24C,SYNPO2L,USP54,VCL chr10 75339733 75352541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 75340033 75346406 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 75340896 75347260 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 75340896 75347260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 75340896 75347260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 75340922 75347260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 75367899 76687297 LOH Normal High-resolution SNP genotyping 21211785 ADK,AGAP5,AP3M1,BMS1P4,C10orf55,CAMK2G,CHCHD1,FUT11,GLUD1P3,KAT6B,KIAA0913,LOC100507331,MYOZ1,NDST2,PLAU,SEC24C,SYNPO2L,VCL chr10 75367899 77049985 LOH Normal High-resolution SNP genotyping 21211785 ADK,AGAP5,AP3M1,BMS1P4,C10orf55,CAMK2G,CHCHD1,COMTD1,DUPD1,DUSP13,FUT11,GLUD1P3,KAT6B,KIAA0913,LOC100507331,MYOZ1,NDST2,PLAU,SAMD8,SEC24C,SYNPO2L,VCL,VDAC2 chr10 754119 754397 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 75417963 75418003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 75427878 75549916 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AGAP5,BMS1P4,CHCHD1,FUT11,GLUD1P3,KIAA0913,SEC24C chr10 75427878 75549916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP5,BMS1P4,CHCHD1,FUT11,GLUD1P3,KIAA0913,SEC24C chr10 75427878 75549916 Gain and loss Pancreatic cancer SNP array 17952125 AGAP5,BMS1P4,CHCHD1,FUT11,GLUD1P3,KIAA0913,SEC24C chr10 75427878 75549916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP5,BMS1P4,CHCHD1,FUT11,GLUD1P3,KIAA0913,SEC24C chr10 75446077 75447624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGAP5 chr10 75510891 75510958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEC24C chr10 75517836 76505391 LOH Normal High-resolution SNP genotyping 21211785 ADK,AP3M1,C10orf55,CAMK2G,CHCHD1,FUT11,KIAA0913,LOC100507331,NDST2,PLAU,SEC24C,VCL chr10 75550022 75580832 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CAMK2G,KIAA0913,LOC100507331,NDST2 chr10 75550022 75580832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMK2G,KIAA0913,LOC100507331,NDST2 chr10 75550022 75580832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMK2G,KIAA0913,LOC100507331,NDST2 chr10 75551523 75580793 Gain and loss Pancreatic cancer SNP array 17952125 CAMK2G,KIAA0913,LOC100507331,NDST2 chr10 75569233 75569333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDST2 chr10 75580971 76139066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADK,AP3M1,C10orf55,CAMK2G,PLAU,VCL chr10 75580971 76139066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADK,AP3M1,C10orf55,CAMK2G,PLAU,VCL chr10 75580971 76139066 Gain and loss Pancreatic cancer SNP array 17952125 ADK,AP3M1,C10orf55,CAMK2G,PLAU,VCL chr10 75580971 76139066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADK,AP3M1,C10orf55,CAMK2G,PLAU,VCL chr10 75600679 75600747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK2G chr10 7568671 7568777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 7568671 7568777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 75774314 75774569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VCL chr10 75792501 75793500 Copy number Normal ReadDepth: A Parallel R Package 21305028 VCL chr10 75800906 75802180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VCL chr10 75800906 75802180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VCL chr10 75853199 75853778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VCL chr10 75853251 75853783 Gain and loss Pancreatic cancer SNP array 17952125 VCL chr10 75892722 76146707 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADK,AP3M1 chr10 75924200 75953342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADK chr10 75936558 75936594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADK chr10 75945001 75946000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADK chr10 75947218 76136653 Amplification or deletion Cancer Array CGH 17440070 ADK chr10 75957348 75957711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 75957348 75957852 Gain and loss Pancreatic cancer SNP array 17952125 ADK chr10 75980352 76448220 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADK chr10 75981156 75981255 Gain and loss Pancreatic cancer SNP array 17952125 ADK chr10 75981156 75981257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 7598727 7599656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 75991883 75991956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADK chr10 76084881 76085893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 7608648 7608890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITIH5 chr10 76088200 77218237 LOH Normal High-resolution SNP genotyping 21211785 ADK,COMTD1,DUPD1,DUSP13,KAT6B,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76124092 76713960 LOH Normal High-resolution SNP genotyping 21211785 ADK,KAT6B chr10 76174146 76174471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 76206913 76208469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADK chr10 76245644 76246494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADK chr10 76252033 76386287 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ADK chr10 76255346 76462645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADK chr10 76255346 76462645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 76255346 76462645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 76256384 76462645 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ADK chr10 76256384 76462645 Gain or loss Breast cancer - 20668451 ADK chr10 76256384 76462645 Gain or loss Cancer - 20668451 ADK chr10 76256384 76462645 Gain or loss Lung cancer - 20668451 ADK chr10 76256384 76462645 Gain or loss Ovarian cancer - 20668451 ADK chr10 76256384 76462645 Gain or loss Pancreas cancer - 20668451 ADK chr10 76256384 76462645 Gain or loss Prostate cancer - 20668451 ADK chr10 76256389 76462386 Gain and loss Pancreatic cancer SNP array 17952125 ADK chr10 76287485 76567763 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADK chr10 76293704 76338694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADK chr10 76370000 76740000 Gain Breast cancer aCGH 21509527 ADK,KAT6B chr10 7639167 7639267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITIH5 chr10 76408092 76408210 Gain and loss Pancreatic cancer SNP array 17952125 ADK chr10 76408092 76408210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 7641641 7748940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITIH2,ITIH5 chr10 7641641 7748940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITIH2,ITIH5 chr10 7643000 17243000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ACBD7,ATP5C1,BEND7,C10orf111,C10orf47,C1QL3,CAMK1D,CCDC3,CDC123,CDNF,CELF2,CUBN,DCLRE1C,DHTKD1,ECHDC3,FAM107B,FAM171A1,FAM188A,FLJ45983,FRMD4A,GATA3,HSPA14,ITGA8,ITIH2,ITIH5,KIN,LOC100192204,LOC219731,LOC254312,LOC283070,LOC439950,MCM10,MEIG1,MIR1265,MIR4480,NMT2,NUDT5,OLAH,OPTN,PHYH,PRPF18,PTER,RPP38,RSU1,SEC61A2,SEPHS1,SFTA1P,SUV39H2,TAF3,TRDMT1,UCMA,UPF2,USP6NL chr10 7645051 7748940 Gain and loss Pancreatic cancer SNP array 17952125 ITIH2,ITIH5 chr10 76465501 76522000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADK chr10 76467600 76488278 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADK chr10 76467600 76488278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 76467600 76488278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADK chr10 76467654 76488113 Gain and loss Pancreatic cancer SNP array 17952125 ADK chr10 76475109 76507128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 76507346 76542084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 76512074 79007334 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C10orf11,COMTD1,DUPD1,DUSP13,KAT6B,KCNMA1,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76519009 76519451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 76519012 76519489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 76522001 76541500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 76524196 76538976 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 76524196 76538976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 76524196 76538976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 76524203 76538976 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 76541313 76606613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KAT6B chr10 76541313 76606613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 76541313 76606613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 76541398 76606613 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 KAT6B chr10 76541471 76606456 Gain and loss Pancreatic cancer SNP array 17952125 KAT6B chr10 76554981 76555626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 76588872 76588960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KAT6B chr10 76639501 76641000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KAT6B chr10 76640568 76661212 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 KAT6B chr10 76640569 76661208 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KAT6B chr10 76640569 76661208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 76640569 76661208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 76640569 76661210 Gain and loss Pancreatic cancer SNP array 17952125 KAT6B chr10 76649372 78529151 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 C10orf11,COMTD1,DUPD1,DUSP13,KAT6B,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76663001 76679500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KAT6B chr10 76663736 76665776 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KAT6B chr10 76663736 76665776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 76663736 76665776 Gain and loss Pancreatic cancer SNP array 17952125 KAT6B chr10 76663736 76665776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 76688739 76707766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KAT6B chr10 7669379 7669470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITIH5 chr10 76699156 76699309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 76705470 76706410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 76718097 76718446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT6B chr10 7674698 7705435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITIH5 chr10 76789974 76823102 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DUPD1,KAT6B chr10 7679497 7679614 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITIH5 chr10 76808396 78121028 LOH Normal High-resolution SNP genotyping 21211785 C10orf11,COMTD1,DUPD1,DUSP13,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76808396 78127795 LOH Normal High-resolution SNP genotyping 21211785 C10orf11,COMTD1,DUPD1,DUSP13,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76808396 78128606 LOH Normal High-resolution SNP genotyping 21211785 C10orf11,COMTD1,DUPD1,DUSP13,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76808396 79711384 LOH Normal High-resolution SNP genotyping 21211785 C10orf11,COMTD1,DLG5,DUPD1,DUSP13,KCNMA1,LOC100128292,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76812157 76812608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUPD1 chr10 76813186 76854001 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DUPD1 chr10 76822423 76822523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 76824501 76838000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 76825430 76827999 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 76827925 76831431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 76827925 76831519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 76827925 76831519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 76828513 76831292 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 76832818 76838746 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 76861217 77987139 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C10orf11,COMTD1,DUSP13,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76861217 77987139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf11,COMTD1,DUSP13,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76861217 77987139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf11,COMTD1,DUSP13,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76903819 77885997 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C10orf11,COMTD1,SAMD8,VDAC2,ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 76904943 77122607 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 COMTD1,SAMD8,VDAC2,ZNF503-AS1 chr10 76982222 76982317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VDAC2 chr10 76989216 76991087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VDAC2 chr10 76990859 76991087 Gain and loss Pancreatic cancer SNP array 17952125 VDAC2 chr10 77009060 77011089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 77061384 77094839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF503-AS1 chr10 77083155 77083250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF503-AS1 chr10 77090565 77440455 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZNF503,ZNF503-AS1,ZNF503-AS2 chr10 771392 774667 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 77142378 77142881 Deletion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr10 77142846 77142946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 771501 774500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 77165499 77165599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF503-AS2 chr10 77212524 77987132 Deletion Normal BAC aCGH 22315515 C10orf11 chr10 77212740 77987052 Gain and loss Pancreatic cancer SNP array 17952125 C10orf11 chr10 77226915 79157041 Loss Prostate cancer Array CGH 18632612 C10orf11,KCNMA1 chr10 77228895 77229062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 77229056 77229216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 77230000 77910000 Gain Breast cancer aCGH 21509527 C10orf11 chr10 77253450 77253542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 77383218 77383318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 77400000 82000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANXA11,C10orf11,C10orf57,DLG5,EIF5AL1,KCNMA1,LOC100128292,LOC100132987,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,POLR3A,PPIF,RPS24,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 77400000 82000000 Copy number Normal - 21701786 ANXA11,C10orf11,C10orf57,DLG5,EIF5AL1,KCNMA1,LOC100128292,LOC100132987,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,POLR3A,PPIF,RPS24,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 77400000 82000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANXA11,C10orf11,C10orf57,DLG5,EIF5AL1,KCNMA1,LOC100128292,LOC100132987,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,POLR3A,PPIF,RPS24,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 77400000 82000000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ANXA11,C10orf11,C10orf57,DLG5,EIF5AL1,KCNMA1,LOC100128292,LOC100132987,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,POLR3A,PPIF,RPS24,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 77446821 78070151 LOH Normal High-resolution SNP genotyping 21211785 C10orf11 chr10 774501 812500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 77506314 77507039 Gain Normal 244K array 17666407 NOT_FOUND chr10 77514990 77515090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 77520974 77537175 Gain Normal 244K array 17666407 NOT_FOUND chr10 77557015 77557075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf11 chr10 77671786 77672065 Gain and loss Pancreatic cancer SNP array 17952125 C10orf11 chr10 77671786 77672071 Gain and loss Pancreatic cancer SNP array 17952125 C10orf11 chr10 77671788 77672077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf11 chr10 77683085 77683185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 77690561 77690667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf11 chr10 77690564 77690666 Gain and loss Pancreatic cancer SNP array 17952125 C10orf11 chr10 77690564 77690667 Gain and loss Pancreatic cancer SNP array 17952125 C10orf11 chr10 77700000 135534747 Loss Pulmonary chondroma CGH 17535989 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ANXA11,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf11,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf57,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DLG5,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,DYDC1,DYDC2,EBF3,ECHS1,EIF3A,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRG2B,FUOM,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100169752,LOC100188947,LOC100288974,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC170425,LOC219347,LOC282997,LOC283038,LOC283050,LOC387723,LOC399815,LOC399829,LOC439990,LOC439994,LOC619207,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRIT1,LRIT2,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MCMBP,METTL10,MGEA5,MGMT,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MTG1,MXI1,MYOF,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,OPN4,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLAC9,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RPS24,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,SPRNP1,STAMBPL1,STK32C,SUFU,SYCE1,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZCCHC24,ZDHHC16,ZDHHC6,ZFYVE27,ZMIZ1,ZNF511,ZNF518A,ZRANB1 chr10 77700000 82000000 Copy number Idiopathic thrombocytopenic purpura References 19566914 ANXA11,C10orf11,C10orf57,DLG5,EIF5AL1,KCNMA1,LOC100128292,LOC100132987,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,POLR3A,PPIF,RPS24,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 77700000 82000000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ANXA11,C10orf11,C10orf57,DLG5,EIF5AL1,KCNMA1,LOC100128292,LOC100132987,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,POLR3A,PPIF,RPS24,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 77700000 82000000 Gain Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 ANXA11,C10orf11,C10orf57,DLG5,EIF5AL1,KCNMA1,LOC100128292,LOC100132987,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,POLR3A,PPIF,RPS24,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 77725069 78258517 LOH Normal High-resolution SNP genotyping 21211785 C10orf11 chr10 77737161 77737235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 7785242 7831488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5C1,ITIH2,KIN chr10 7785242 7831488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5C1,ITIH2,KIN chr10 7785341 7831488 Gain and loss Pancreatic cancer SNP array 17952125 ATP5C1,ITIH2,KIN chr10 77853996 78374283 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-638K arrays 21546498 C10orf11 chr10 77885388 77885488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 77894201 77935135 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C10orf11 chr10 77912721 77939927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C10orf11 chr10 77913206 77935466 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C10orf11 chr10 77917922 77928698 Gain Normal 244K array 17666407 C10orf11 chr10 77919140 77939826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C10orf11 chr10 77922171 77932396 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C10orf11 chr10 77923501 77933000 Deletion Glioma mate-paired sequence 20126413 C10orf11 chr10 77925501 77931000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf11 chr10 77925578 77931032 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C10orf11 chr10 77925579 77931025 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C10orf11 chr10 77927067 77930591 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C10orf11 chr10 77927067 77930591 Loss Normal Birdsuite, version 1.5.2 22087296 C10orf11 chr10 779344 779444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 77993472 77993572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 78006929 78027568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C10orf11 chr10 78014701 78023500 Deletion Glioma mate-paired sequence 20126413 C10orf11 chr10 78016596 78021583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C10orf11 chr10 78027056 78028809 Loss Normal 244K array 17666407 C10orf11 chr10 78042984 78043084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 78062357 78065579 Gain Normal 244K array 17666407 C10orf11 chr10 78066040 78066132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 78072259 78813688 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C10orf11,KCNMA1 chr10 78141502 78141587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 78144524 78144624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 78158399 79711384 LOH Normal High-resolution SNP genotyping 21211785 C10orf11,DLG5,KCNMA1,LOC100128292 chr10 78165714 79711384 LOH Normal High-resolution SNP genotyping 21211785 C10orf11,DLG5,KCNMA1,LOC100128292 chr10 78169574 79711384 LOH Normal High-resolution SNP genotyping 21211785 C10orf11,DLG5,KCNMA1,LOC100128292 chr10 78213634 78213724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 78221544 78223751 Loss Normal 244K array 17666407 C10orf11 chr10 78234114 78236210 Loss Normal 244K array 17666407 C10orf11 chr10 78257272 78257372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 78266332 78266625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf11 chr10 78298962 78299030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf11 chr10 78305025 78305416 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C10orf11 chr10 78307361 79068133 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C10orf11,KCNMA1 chr10 78307361 79068133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf11,KCNMA1 chr10 78307361 79068133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf11,KCNMA1 chr10 78307503 78307658 Gain and loss Pancreatic cancer SNP array 17952125 C10orf11 chr10 78314641 79067583 Gain and loss Pancreatic cancer SNP array 17952125 C10orf11,KCNMA1 chr10 7833824 7834044 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ATP5C1 chr10 78354101 81238300 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLG5,KCNMA1,LOC100128292,LOC100132987,LOC283050,POLR3A,PPIF,RPS24,ZCCHC24,ZMIZ1 chr10 7837198 7869913 Gain and loss Pancreatic cancer SNP array 17952125 ATP5C1,TAF3 chr10 7837373 7869950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5C1,TAF3 chr10 7837373 7869950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5C1,TAF3 chr10 78401129 78401229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 78414606 78414706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 78443315 78443415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 78447282 78491947 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 78470909 78471227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 78621100 103535200 Loss Prostate cancer Array CGH 18632612 ABCC2,ACTA2,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ANXA11,ARHGAP19,ARHGAP19-SLIT1,ATAD1,AVPI1,BLNK,BLOC1S2,BMPR1A,BTAF1,BTRC,C10orf116,C10orf12,C10orf129,C10orf131,C10orf2,C10orf57,C10orf62,C10orf99,CC2D2B,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHUK,CNNM1,COX15,CPEB3,CPN1,CRTAC1,CUTC,CWF19L1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DLG5,DNMBP,DNMBP-AS1,DNTT,DPCD,DYDC1,DYDC2,EIF5AL1,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM178A,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FBXW4,FGF8,FGFBP3,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,GHITM,GLUD1,GOLGA7B,GOT1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HIF1AN,HOGA1,HPS1,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KAZALD1,KCNMA1,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB3,LGI1,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128292,LOC100132987,LOC100188947,LOC100288974,LOC100505540,LOC170425,LOC219347,LOC283050,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LOC728558,LOXL4,LRIT1,LRIT2,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MBL1P,MINPP1,MIR107,MIR1287,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR4678,MIR4679-1,MIR4679-2,MIR4685,MIR5692C2,MIR608,MMRN2,MMS19,MORN4,MRPL43,MYOF,NDUFB8,NKX2-3,NOC3L,NRG3,NUDT9P1,O3FAR1,OPALIN,OPN4,PANK1,PAPSS2,PAX2,PCGF5,PDE6C,PDLIM1,PDZD7,PGAM1,PI4K2A,PIK3AP1,PIPSL,PKD2L1,PLAC9,PLCE1,POLL,POLR3A,PPIF,PPP1R3C,PTEN,PYROXD2,R3HCC1L,RBP4,RGR,RNLS,RPP30,RPS24,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFTPA1,SFTPA2,SFTPD,SFXN3,SH2D4B,SLC16A12,SLC25A28,SLC35G1,SLIT1,SNCG,SNORA12,SORBS1,STAMBPL1,TBC1D12,TCTN3,TLL2,TLX1,TLX1NB,TM9SF3,TNKS2,TSPAN14,UBTD1,WAPAL,WNT8B,ZCCHC24,ZDHHC16,ZFYVE27,ZMIZ1,ZNF518A chr10 78681776 79194952 LOH Normal High-resolution SNP genotyping 21211785 KCNMA1 chr10 7870098 7889768 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 TAF3 chr10 7870099 7889761 Gain and loss Pancreatic cancer SNP array 17952125 TAF3 chr10 7870099 7889764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF3 chr10 7870099 7889764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF3 chr10 78726505 78726605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 78730309 78730409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 78736855 78736944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 78781397 78996345 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KCNMA1 chr10 78804501 80332500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLG5,KCNMA1,LOC100128292,LOC100132987,POLR3A,RPS24 chr10 78806319 78806401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNMA1 chr10 78806323 78806405 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNMA1 chr10 78825606 78825638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 78834899 78840778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNMA1 chr10 78863336 78863546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 78863997 79498631 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 KCNMA1 chr10 78865214 78910212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNMA1 chr10 78878026 78897020 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KCNMA1 chr10 78904739 78905219 Loss Normal 244K array 17666407 KCNMA1 chr10 78922730 78922830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 78927956 78961874 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNMA1 chr10 78941990 78942090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 789859 790003 Loss Normal 244K array 17666407 NOT_FOUND chr10 78988070 79248885 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KCNMA1 chr10 7900507 8096720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ45983,GATA3,TAF3 chr10 7900679 8047660 Gain and loss Pancreatic cancer SNP array 17952125 TAF3 chr10 79016813 79016923 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79016813 79016923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79016814 79016902 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79077150 79077220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 79086085 79089672 Gain Normal Birdsuite, version 1.5.2 22087296 KCNMA1 chr10 79089672 79109826 Gain Normal Birdsuite, version 1.5.2 22087296 KCNMA1 chr10 79093116 79159021 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 KCNMA1 chr10 79099337 79099382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 79109826 79112590 Gain Normal Birdsuite, version 1.5.2 22087296 KCNMA1 chr10 7915587 7915926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF3 chr10 79160539 79162573 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79160539 79162573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79169117 79169214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 79176254 79210048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNMA1 chr10 79199813 79512927 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 KCNMA1 chr10 79201119 79214917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNMA1 chr10 79206715 79206819 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79206715 79206819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79206716 79206819 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79210098 79211640 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79210098 79211643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79220555 79356384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79220555 79356384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79220557 79298959 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79220557 79356384 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNMA1 chr10 79222466 79222566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 79273961 80171344 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 DLG5,KCNMA1,LOC100128292,LOC100132987,POLR3A,RPS24 chr10 79296344 79296376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMA1 chr10 79296639 79299374 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNMA1 chr10 79296639 79299374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79342043 79342307 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79342043 79342307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79357395 79357961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79357395 79359588 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79364568 79365342 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNMA1 chr10 7937400 11961000 Loss Prostate cancer Array CGH 18632612 C10orf47,CELF2,ECHDC3,FLJ45983,GATA3,LOC219731,LOC254312,LOC439950,SFTA1P,TAF3,USP6NL chr10 79382947 79383151 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79382947 79383151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79383259 79383640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79384325 79384433 Gain and loss Pancreatic cancer SNP array 17952125 KCNMA1 chr10 79384325 79384433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMA1 chr10 79392747 79437471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNMA1 chr10 79405912 79459265 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 79405912 79459265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 79405912 79459265 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 79405912 79459265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 79414124 79422996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 79430826 79430888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 79437136 79878778 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DLG5,LOC100128292,POLR3A,RPS24 chr10 79439699 79439699 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr10 79460178 79460554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 79463580 79470477 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 79463580 79470477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 79463580 79470477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 79463629 79470477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 79498464 79499391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 79498535 79499304 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 79541011 79541111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 795549 881206 Gain aortic dissecting aneurysms Array-CGH 22263138 LARP4B chr10 795549 881206 Gain Stenocardia MACArray Karyo 46K BAC-chips 21860640 LARP4B chr10 795549 881206 Gain Vasospasm MACArray Karyo 46K BAC-chips 21860640 LARP4B chr10 79566202 80629523 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DLG5,LOC100128292,LOC100132987,POLR3A,RPS24 chr10 79632596 79632696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG5 chr10 79687952 85721525 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ANXA11,C10orf57,DYDC1,DYDC2,EIF5AL1,FAM213A,LOC100128292,LOC100132987,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MAT1A,MBL1P,NRG3,PLAC9,POLR3A,PPIF,RPS24,SFTPA1,SFTPA2,SFTPD,SH2D4B,TSPAN14,ZCCHC24,ZMIZ1 chr10 79775775 79872913 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 POLR3A,RPS24 chr10 79782209 79887174 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 POLR3A,RPS24 chr10 79797270 79797386 Gain and loss Pancreatic cancer SNP array 17952125 RPS24 chr10 79797270 79797386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS24 chr10 79797285 79797382 Gain and loss Pancreatic cancer SNP array 17952125 RPS24 chr10 79813322 79814412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPS24 chr10 79836772 79836872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 79863914 79863999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 79907087 79907187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 7991451 8431435 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ45983,GATA3,TAF3 chr10 79941269 80019660 Gain aortic dissecting aneurysms Array-CGH 22263138 LOC100132987 chr10 80024756 80024854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80063520 80063619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80077917 80824746 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 LOC283050 chr10 8010000 10020000 Gain Breast cancer aCGH 21509527 FLJ45983,GATA3,TAF3 chr10 80116843 80116905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80126113 80126147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80145382 80270859 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 80171344 81279277 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 EIF5AL1,LOC283050,PPIF,ZCCHC24,ZMIZ1 chr10 80180365 80180460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 80222687 80222747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80225848 80270069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 80227266 80227366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80236385 80236485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80258129 80258171 Microdeletion Normal paired-end-sequenced 22403181 NOT_FOUND chr10 80301931 80302011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80317824 80317924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80332501 80474500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 80385008 80417475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 80389423 80389522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80415076 80448772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 80462199 80462299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80472952 80774861 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 LOC283050 chr10 80474501 80743000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283050 chr10 80498798 80746282 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC283050 chr10 80498798 80746282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283050 chr10 80498798 80746282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283050 chr10 80503396 80503468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80532209 82331976 Gain Prostate cancer Array CGH 18632612 ANXA11,C10orf57,DYDC1,DYDC2,EIF5AL1,FAM213A,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MAT1A,MBL1P,PLAC9,PPIF,SFTPA1,SFTPA2,SFTPD,SH2D4B,TSPAN14,ZCCHC24,ZMIZ1 chr10 80562651 80562751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80565766 81502183 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 EIF5AL1,LOC283050,LOC650623,PPIF,SFTPA1,SFTPA2,ZCCHC24,ZMIZ1 chr10 80591876 80746273 Gain and loss Pancreatic cancer SNP array 17952125 LOC283050 chr10 8059201 8096720 Gain and loss Pancreatic cancer SNP array 17952125 FLJ45983,GATA3 chr10 80596638 80596738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80620111 82334587 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ANXA11,C10orf57,DYDC1,DYDC2,EIF5AL1,FAM213A,LOC100288974,LOC219347,LOC283050,LOC439990,LOC642361,LOC650623,MAT1A,MBL1P,PLAC9,PPIF,SFTPA1,SFTPA2,SFTPD,SH2D4B,TSPAN14,ZCCHC24,ZMIZ1 chr10 80652 82824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 80666253 80666333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80669078 80669178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 80673820 80674857 Loss Normal 244K array 17666407 NOT_FOUND chr10 80680600 80681600 Loss Osteosarcoma References 21215367 NOT_FOUND chr10 80737820 80737893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283050 chr10 80743001 81259750 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283050,PPIF,ZCCHC24,ZMIZ1 chr10 8074468 8074608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 80761760 96821276 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACTA2,AGAP11,ANKRD1,ANKRD22,ANXA11,ATAD1,BMPR1A,BTAF1,C10orf116,C10orf57,C10orf99,CDHR1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DYDC1,DYDC2,EIF5AL1,EXOC6,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100288974,LOC170425,LOC219347,LOC283050,LOC439990,LOC439994,LOC642361,LOC643529,LOC650623,LOC728190,LOC728218,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MBL1P,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PIPSL,PLAC9,PLCE1,PPIF,PPP1R3C,PTEN,RBP4,RGR,RNLS,RPP30,SFTPA1,SFTPA2,SFTPD,SH2D4B,SLC16A12,SLC35G1,SNCG,STAMBPL1,TBC1D12,TNKS2,TSPAN14,WAPAL,ZCCHC24,ZMIZ1 chr10 80762187 80762764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC283050 chr10 80777226 80785087 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC283050 chr10 80777226 80785087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283050 chr10 80777226 80785087 Gain and loss Pancreatic cancer SNP array 17952125 LOC283050 chr10 80777226 80785087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283050 chr10 80782922 80783273 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC283050 chr10 80806585 80807585 Loss Osteosarcoma References 21215367 LOC283050 chr10 80812091 80875389 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC283050,ZMIZ1 chr10 80812091 80875389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283050,ZMIZ1 chr10 80812091 80875389 Gain and loss Pancreatic cancer SNP array 17952125 LOC283050,ZMIZ1 chr10 80812091 80875389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283050,ZMIZ1 chr10 80812678 80813200 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC283050 chr10 80814566 80815587 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC283050 chr10 808451 824608 Gain Normal 244K array 17666407 NOT_FOUND chr10 80846910 80847142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMIZ1 chr10 80858158 80858233 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMIZ1 chr10 8086205 8086270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 808774 8499212 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADARB2,ADARB2-AS1,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ANKRD16,ASB13,ATP5C1,CALML3,CALML5,FAM208B,FBXO18,FLJ45983,GATA3,GDI2,GTPBP4,IDI1,IDI2,IDI2-AS1,IL15RA,IL2RA,ITIH2,ITIH5,KIN,KLF6,LARP4B,LINC00200,LOC100216001,LOC100507034,LOC100507127,LOC282980,LOC338588,LOC399708,LOC399715,LOC439949,MIR3155A,MIR3155B,NET1,PFKFB3,PFKP,PITRM1,PRKCQ,RBM17,SFMBT2,TAF3,TAKR,TUBAL3,UCN3,WDR37 chr10 80888927 82013381 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-634K arrays 21546498 ANXA11,C10orf57,EIF5AL1,LOC100288974,LOC219347,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,PPIF,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 80889250 80889314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMIZ1 chr10 80892449 80892549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMIZ1 chr10 80921337 81529642 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 EIF5AL1,LOC650623,PPIF,SFTPA1,SFTPA2,ZCCHC24,ZMIZ1 chr10 80935839 80936649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMIZ1 chr10 8093807 8093867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ45983 chr10 80942412 80942873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMIZ1 chr10 80945468 81231464 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PPIF,ZCCHC24,ZMIZ1 chr10 80945468 81553432 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EIF5AL1,LOC650623,PPIF,SFTPA1,SFTPA2,ZCCHC24,ZMIZ1 chr10 80945468 81553432 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EIF5AL1,LOC650623,PPIF,SFTPA1,SFTPA2,ZCCHC24,ZMIZ1 chr10 80945468 81722592 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EIF5AL1,LOC100288974,LOC642361,LOC650623,MBL1P,PPIF,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 80945468 81810835 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EIF5AL1,LOC100288974,LOC219347,LOC642361,LOC650623,MBL1P,PPIF,SFTPA1,SFTPA2,SFTPD,ZCCHC24,ZMIZ1 chr10 80953273 81513464 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 EIF5AL1,LOC650623,PPIF,SFTPA1,SFTPA2,ZCCHC24,ZMIZ1 chr10 80963622 81549404 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EIF5AL1,LOC650623,PPIF,SFTPA1,SFTPA2,ZCCHC24,ZMIZ1 chr10 80973713 80974112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMIZ1 chr10 80985626 80990169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMIZ1 chr10 80985663 80990156 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZMIZ1 chr10 80985669 80990156 Gain and loss Pancreatic cancer SNP array 17952125 ZMIZ1 chr10 81012054 81014582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMIZ1 chr10 81025056 81025422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMIZ1 chr10 81036133 81036233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMIZ1 chr10 81040701 81045203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMIZ1 chr10 81040701 81045203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMIZ1 chr10 81040713 81045203 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZMIZ1 chr10 81040718 81043975 Gain and loss Pancreatic cancer SNP array 17952125 ZMIZ1 chr10 81053880 81055405 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZMIZ1 chr10 8105923 8107324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GATA3 chr10 81078095 81231464 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PPIF,ZCCHC24 chr10 81078095 81231464 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PPIF,ZCCHC24 chr10 81078095 81553432 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EIF5AL1,LOC650623,PPIF,SFTPA1,SFTPA2,ZCCHC24 chr10 81078095 81553432 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EIF5AL1,LOC650623,PPIF,SFTPA1,SFTPA2,ZCCHC24 chr10 81094935 81829022 LOH Normal High-resolution SNP genotyping 21211785 EIF5AL1,LOC100288974,LOC219347,LOC642361,LOC650623,MBL1P,PPIF,SFTPA1,SFTPA2,SFTPD,ZCCHC24 chr10 81114254 81114745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIF chr10 81121867 81829022 LOH Normal High-resolution SNP genotyping 21211785 EIF5AL1,LOC100288974,LOC219347,LOC642361,LOC650623,MBL1P,SFTPA1,SFTPA2,SFTPD,ZCCHC24 chr10 81126783 81607239 Substitutions and indels small cell lung cancer array-CGH 20016488 EIF5AL1,LOC642361,LOC650623,SFTPA1,SFTPA2,ZCCHC24 chr10 81128690 81128790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 81128690 81226767 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZCCHC24 chr10 81133041 81144443 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZCCHC24 chr10 81133041 81144443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC24 chr10 81133041 81144443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC24 chr10 81162386 81162461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZCCHC24 chr10 81168338 81168438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZCCHC24 chr10 81178251 81178457 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC24 chr10 8119047 8152171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 812501 828500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 81254362 81254462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 81259751 81551250 Copy number Normal ReadDepth: A Parallel R Package 21305028 EIF5AL1,LOC650623,SFTPA1,SFTPA2 chr10 81262314 81262778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81279277 82260028 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ANXA11,C10orf57,DYDC1,DYDC2,FAM213A,LOC100288974,LOC219347,LOC439990,LOC642361,LOC650623,MAT1A,MBL1P,PLAC9,SFTPA1,SFTPA2,SFTPD,TSPAN14 chr10 81293802 81294057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 8130007 8150030 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr10 81305571 81310114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81305608 81310101 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 81305614 81310101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 813107 813181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 8132419 8135453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 8132419 8135453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 8132419 8135453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81331999 81334584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81344997 81345371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81360647 81363921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81360647 81363921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81360664 81363921 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 81360664 81363921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 8136673 8157170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 8136673 8157170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 8136673 8157170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81375381 81529642 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC650623 chr10 81412179 81619836 Copy number Normal Birdsuite, version 1.5.2 22087296 LOC642361,LOC650623 chr10 81413158 81513464 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC650623 chr10 81418250 81553432 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC650623 chr10 814296 814443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 81433020 81435395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81434073 81497194 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC650623 chr10 81439197 81586288 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642361,LOC650623 chr10 81439197 81588023 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642361,LOC650623 chr10 81439197 81588023 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642361,LOC650623 chr10 81453188 81462701 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 81453188 81462701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81453188 81462701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81464465 81469464 Loss Normal TaqMan assays 20972442 NOT_FOUND chr10 8146601 8804400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 81475459 81486935 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 81475459 81486935 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 81486935 81497207 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 81495386 81567953 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 81497207 81513189 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 81498427 81498633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 81513177 81588023 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642361 chr10 81513177 81646746 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642361 chr10 81513189 81549388 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 81546465 81551464 Loss Normal TaqMan assays 20972442 NOT_FOUND chr10 81549388 81552166 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 81552166 81552167 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 81552167 81587120 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC642361 chr10 8158029 8188144 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 NOT_FOUND chr10 81587120 81587759 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC642361 chr10 81587759 81593474 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 81591094 81600608 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 81591094 81600608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81591094 81600608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81594195 81600608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 81597709 82913296 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ANXA11,C10orf57,DYDC1,DYDC2,FAM213A,LOC100288974,LOC219347,LOC439990,MAT1A,MBL1P,PLAC9,SFTPD,SH2D4B,TSPAN14 chr10 81600000 81900000 Gain or loss Neuroendocrine carcinoma TaqMan real-time quantitative PCR and commercially available reagents (Applied Biosystems, Foster City, CA, USA) 21139019 C10orf57,LOC100288974,LOC219347,MBL1P,PLAC9,SFTPD chr10 81610309 81611542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81620111 81622862 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 81620111 81624732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81620727 81623639 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 81631003 81644371 Loss Normal 244K array 17666407 NOT_FOUND chr10 81631178 81930681 Duplication Depressive disorder Perlegen 600K platform 21152026 ANXA11,C10orf57,LOC100288974,LOC219347,MBL1P,PLAC9,SFTPD chr10 81633195 88858515 Substitutions and indels small cell lung cancer array-CGH 20016488 AGAP11,ANXA11,BMPR1A,C10orf116,C10orf57,C10orf99,CDHR1,DYDC1,DYDC2,FAM190B,FAM213A,FAM25A,FAM35A,GHITM,GLUD1,GRID1,GRID1-AS1,LDB3,LOC100288974,LOC170425,LOC219347,LOC439990,LRIT1,LRIT2,MAT1A,MBL1P,MIR346,MMRN2,NRG3,OPN4,PLAC9,RGR,SFTPD,SH2D4B,SNCG,TSPAN14,WAPAL chr10 81641576 81642774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81654634 81700761 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100288974,MBL1P,SFTPD chr10 81654634 81700761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100288974,MBL1P,SFTPD chr10 81654634 81700761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288974,MBL1P,SFTPD chr10 81656341 81657521 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 81670063 81672771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100288974 chr10 81670063 81672771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288974 chr10 81687475 81698841 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 LOC100288974,SFTPD chr10 81687478 81698841 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100288974,SFTPD chr10 81687478 81698841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100288974,SFTPD chr10 81687478 81698841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288974,SFTPD chr10 81687488 81698841 Gain and loss Pancreatic cancer SNP array 17952125 LOC100288974,SFTPD chr10 81731575 81731948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81732651 81732976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81767413 81767591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81772720 81783074 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 81774473 81774898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81778421 81779313 Gain Normal 244K array 17666407 NOT_FOUND chr10 81780921 81789576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 81781704 81782129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81790363 81790779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81790363 81790779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81795970 81828929 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LOC219347 chr10 818001 822200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 81828401 81842286 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C10orf57,LOC219347 chr10 81828401 81842286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf57,LOC219347 chr10 81828401 81842286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf57,LOC219347 chr10 81828405 81842287 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 C10orf57,LOC219347 chr10 81828406 81842287 Gain and loss Pancreatic cancer SNP array 17952125 C10orf57,LOC219347 chr10 81833410 81853064 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C10orf57,LOC219347 chr10 81861039 81861167 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr10 81875677 81876053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81876025 81889102 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 81881457 81895906 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLAC9 chr10 81881457 81895906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLAC9 chr10 81881457 81895906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLAC9 chr10 81882237 81894764 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PLAC9 chr10 81882238 81894766 Gain and loss Pancreatic cancer SNP array 17952125 PLAC9 chr10 81887118 84668434 LOH Normal High-resolution SNP genotyping 21211785 ANXA11,DYDC1,DYDC2,FAM213A,LOC439990,MAT1A,NRG3,PLAC9,SH2D4B,TSPAN14 chr10 81888175 82753185 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA11,DYDC1,DYDC2,FAM213A,LOC439990,MAT1A,PLAC9,SH2D4B,TSPAN14 chr10 81888175 83785819 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA11,DYDC1,DYDC2,FAM213A,LOC439990,MAT1A,NRG3,PLAC9,SH2D4B,TSPAN14 chr10 81891099 81891199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 81900625 81955413 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANXA11,PLAC9 chr10 81900625 81955413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANXA11,PLAC9 chr10 81900625 81955413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA11,PLAC9 chr10 81904860 81955308 Gain and loss Pancreatic cancer SNP array 17952125 ANXA11 chr10 81965587 81965855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 819774 820444 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 81983400 81995103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 81984157 82314883 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DYDC1,DYDC2,FAM213A,MAT1A,SH2D4B,TSPAN14 chr10 81995333 82008014 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 81996955 81997419 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 81996955 81997467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82000000 105700000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ABCC2,ACTA2,ACTR1A,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,ATAD1,AVPI1,BLNK,BLOC1S2,BMPR1A,BTAF1,BTRC,C10orf116,C10orf12,C10orf129,C10orf131,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,C10orf99,CALHM1,CALHM2,CALHM3,CC2D2B,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHUK,CNNM1,CNNM2,COX15,CPEB3,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNMBP,DNMBP-AS1,DNTT,DPCD,DYDC1,DYDC2,ELOVL3,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM178A,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,GBF1,GHITM,GLUD1,GOLGA7B,GOT1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,INA,KAZALD1,KCNIP2,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LDB3,LGI1,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRIT1,LRIT2,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MGEA5,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR4678,MIR4679-1,MIR4679-2,MIR4685,MIR5692C2,MIR608,MMRN2,MMS19,MORN4,MRPL43,MYOF,NDUFB8,NEURL,NFKB2,NKX2-3,NOC3L,NOLC1,NPM3,NRG3,NT5C2,NUDT9P1,O3FAR1,OBFC1,OPALIN,OPN4,PANK1,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDE6C,PDLIM1,PDZD7,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,POLL,PPP1R3C,PPRC1,PSD,PTEN,PYROXD2,R3HCC1L,RBP4,RGR,RNLS,RPP30,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SH2D4B,SH3PXD2A,SLC16A12,SLC25A28,SLC35G1,SLIT1,SNCG,SNORA12,SORBS1,STAMBPL1,SUFU,TAF5,TBC1D12,TCTN3,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TSPAN14,UBTD1,USMG5,WAPAL,WBP1L,WNT8B,ZDHHC16,ZFYVE27,ZNF518A chr10 82000000 135374737 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,DYDC1,DYDC2,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100169752,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC170425,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC439994,LOC619207,LOC643529,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRIT1,LRIT2,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MCMBP,METTL10,MGEA5,MGMT,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MTG1,MXI1,MYOF,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,OPN4,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP1R3C,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,STAMBPL1,STK32C,SUFU,SYCE1,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZNF518A,ZRANB1 chr10 82000000 135374737 Loss Astrocytoma CGH 17387387 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,DYDC1,DYDC2,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100169752,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC170425,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC439994,LOC619207,LOC643529,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRIT1,LRIT2,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MCMBP,METTL10,MGEA5,MGMT,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MTG1,MXI1,MYOF,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,OPN4,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP1R3C,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,STAMBPL1,STK32C,SUFU,SYCE1,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZNF518A,ZRANB1 chr10 82000000 135374737 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,DYDC1,DYDC2,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100169752,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC170425,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC439994,LOC619207,LOC643529,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRIT1,LRIT2,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MCMBP,METTL10,MGEA5,MGMT,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MTG1,MXI1,MYOF,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,OPN4,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP1R3C,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,STAMBPL1,STK32C,SUFU,SYCE1,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZNF518A,ZRANB1 chr10 82000000 135374737 Loss Glioblastoma multiforme CGH 17387387 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,DYDC1,DYDC2,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM190B,FAM196A,FAM204A,FAM213A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GHITM,GLRX3,GLUD1,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100169752,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC170425,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC439994,LOC619207,LOC643529,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRIT1,LRIT2,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MAT1A,MCMBP,METTL10,MGEA5,MGMT,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MTG1,MXI1,MYOF,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NRG3,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,OPN4,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP1R3C,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGR,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH2D4B,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,STAMBPL1,STK32C,SUFU,SYCE1,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TSPAN14,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZNF518A,ZRANB1 chr10 82000000 87900000 Copy number Normal - 21701786 C10orf99,CDHR1,DYDC1,DYDC2,FAM190B,FAM213A,GHITM,GRID1,GRID1-AS1,LOC170425,LRIT1,LRIT2,MAT1A,NRG3,RGR,SH2D4B,TSPAN14 chr10 82000000 87900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C10orf99,CDHR1,DYDC1,DYDC2,FAM190B,FAM213A,GHITM,GRID1,GRID1-AS1,LOC170425,LRIT1,LRIT2,MAT1A,NRG3,RGR,SH2D4B,TSPAN14 chr10 82000000 87900000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 C10orf99,CDHR1,DYDC1,DYDC2,FAM190B,FAM213A,GHITM,GRID1,GRID1-AS1,LOC170425,LRIT1,LRIT2,MAT1A,NRG3,RGR,SH2D4B,TSPAN14 chr10 82000000 94100000 Loss Prostate cancer Array CGH 16573809 ACTA2,AGAP11,ANKRD1,ANKRD22,ATAD1,BMPR1A,BTAF1,C10orf116,C10orf99,CDHR1,CFL1P1,CH25H,CPEB3,DYDC1,DYDC2,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LDB3,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LRIT1,LRIT2,MARCH5,MAT1A,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,NRG3,NUDT9P1,OPN4,PANK1,PAPSS2,PCGF5,PPP1R3C,PTEN,RGR,RNLS,RPP30,SH2D4B,SLC16A12,SNCG,STAMBPL1,TNKS2,TSPAN14,WAPAL chr10 82000000 97000000 Copy number Colorectal cancer References 18645599 ACTA2,AGAP11,ANKRD1,ANKRD22,ATAD1,BMPR1A,BTAF1,C10orf116,C10orf129,C10orf99,CDHR1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DYDC1,DYDC2,EXOC6,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RGR,RNLS,RPP30,SH2D4B,SLC16A12,SLC35G1,SNCG,STAMBPL1,TBC1D12,TNKS2,TSPAN14,WAPAL chr10 82000000 97000000 Copy number Polyposis syndrome References 18645599 ACTA2,AGAP11,ANKRD1,ANKRD22,ATAD1,BMPR1A,BTAF1,C10orf116,C10orf129,C10orf99,CDHR1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DYDC1,DYDC2,EXOC6,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RGR,RNLS,RPP30,SH2D4B,SLC16A12,SLC35G1,SNCG,STAMBPL1,TBC1D12,TNKS2,TSPAN14,WAPAL chr10 82000000 97000000 Deletion Prostate cancer Affymetrix 50K SNP mapping array 17245344 ACTA2,AGAP11,ANKRD1,ANKRD22,ATAD1,BMPR1A,BTAF1,C10orf116,C10orf129,C10orf99,CDHR1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DYDC1,DYDC2,EXOC6,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RGR,RNLS,RPP30,SH2D4B,SLC16A12,SLC35G1,SNCG,STAMBPL1,TBC1D12,TNKS2,TSPAN14,WAPAL chr10 82000000 97000000 Loss Glioblastoma multiforme FISH and array CGH 17369134 ACTA2,AGAP11,ANKRD1,ANKRD22,ATAD1,BMPR1A,BTAF1,C10orf116,C10orf129,C10orf99,CDHR1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DYDC1,DYDC2,EXOC6,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RGR,RNLS,RPP30,SH2D4B,SLC16A12,SLC35G1,SNCG,STAMBPL1,TBC1D12,TNKS2,TSPAN14,WAPAL chr10 82000000 98000000 Deletion Glioblastoma multiforme 50K Xba SNP mapping arrays (Affymetrix) 21750150 ACTA2,AGAP11,ALDH18A1,ANKRD1,ANKRD22,ATAD1,BLNK,BMPR1A,BTAF1,C10orf116,C10orf129,C10orf131,C10orf99,CC2D2B,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DYDC1,DYDC2,ENTPD1,EXOC6,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LOC728558,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MINPP1,MIR107,MIR3157,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RGR,RNLS,RPP30,SH2D4B,SLC16A12,SLC35G1,SNCG,SORBS1,STAMBPL1,TBC1D12,TCTN3,TNKS2,TSPAN14,WAPAL,ZNF518A chr10 82000000 98000000 Loss Breast cancer array-CGH 22032731 ACTA2,AGAP11,ALDH18A1,ANKRD1,ANKRD22,ATAD1,BLNK,BMPR1A,BTAF1,C10orf116,C10orf129,C10orf131,C10orf99,CC2D2B,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DYDC1,DYDC2,ENTPD1,EXOC6,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LOC728558,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MINPP1,MIR107,MIR3157,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RGR,RNLS,RPP30,SH2D4B,SLC16A12,SLC35G1,SNCG,SORBS1,STAMBPL1,TBC1D12,TCTN3,TNKS2,TSPAN14,WAPAL,ZNF518A chr10 82000000 98000000 Loss Ovarian cancer Affymetrix 20844748 ACTA2,AGAP11,ALDH18A1,ANKRD1,ANKRD22,ATAD1,BLNK,BMPR1A,BTAF1,C10orf116,C10orf129,C10orf131,C10orf99,CC2D2B,CCNJ,CDHR1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DYDC1,DYDC2,ENTPD1,EXOC6,FAM190B,FAM213A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LOC728558,LRIT1,LRIT2,MARCH5,MARK2P9,MAT1A,MINPP1,MIR107,MIR3157,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NOC3L,NRG3,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RGR,RNLS,RPP30,SH2D4B,SLC16A12,SLC35G1,SNCG,SORBS1,STAMBPL1,TBC1D12,TCTN3,TNKS2,TSPAN14,WAPAL,ZNF518A chr10 82000961 82003857 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 82000961 82003857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82008014 84668434 LOH Normal High-resolution SNP genotyping 21211785 DYDC1,DYDC2,FAM213A,MAT1A,NRG3,SH2D4B,TSPAN14 chr10 82018627 82019006 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr10 82021555 82039414 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 MAT1A chr10 82021557 82039375 Gain and loss Pancreatic cancer SNP array 17952125 MAT1A chr10 82021557 82039414 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAT1A chr10 82021557 82039414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAT1A chr10 82021557 82039414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAT1A chr10 82047456 82049391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAT1A chr10 82085841 82106480 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 DYDC1,DYDC2 chr10 82085844 82106489 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DYDC1,DYDC2 chr10 82085844 82106489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYDC1,DYDC2 chr10 82085844 82106489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYDC1,DYDC2 chr10 82085892 82102352 Gain and loss Pancreatic cancer SNP array 17952125 DYDC1 chr10 82094481 82117809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DYDC1,DYDC2 chr10 82094481 82117809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYDC1,DYDC2 chr10 82094481 82117809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYDC1,DYDC2 chr10 82102173 82117809 Gain and loss Pancreatic cancer SNP array 17952125 DYDC1,DYDC2 chr10 82106537 82117809 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 DYDC1,DYDC2 chr10 82110953 82111020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYDC1,DYDC2 chr10 82116913 82116991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYDC2 chr10 82140122 87049516 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C10orf99,CDHR1,FAM190B,FAM213A,GHITM,LOC170425,LRIT1,LRIT2,NRG3,RGR,SH2D4B,TSPAN14 chr10 82157565 82182733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM213A chr10 82157565 82182733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM213A chr10 82158221 82182733 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 FAM213A chr10 82158221 82182733 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FAM213A chr10 82158278 82182727 Gain and loss Pancreatic cancer SNP array 17952125 FAM213A chr10 82204001 82270584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN14 chr10 82204017 82272371 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 TSPAN14 chr10 82204047 82269364 Gain and loss Pancreatic cancer SNP array 17952125 TSPAN14 chr10 82232087 82232535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TSPAN14 chr10 82263581 82308802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SH2D4B,TSPAN14 chr10 82265160 82265245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN14 chr10 82273705 82913296 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 SH2D4B,TSPAN14 chr10 82287638 82396296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH2D4B chr10 82287638 82396296 Gain and loss Pancreatic cancer SNP array 17952125 SH2D4B chr10 82287638 82396296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH2D4B chr10 82396255 85894629 Deletion Normal Arbitrated Peel-off 21527027 NRG3,SH2D4B chr10 82396255 85894629 Deletion Normal GeneGISTIC 21527027 NRG3,SH2D4B chr10 82396255 85894629 Deletion Normal Standard peel-off 21527027 NRG3,SH2D4B chr10 82409554 82409638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 8243229 8244161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82446045 82446119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82451604 82451704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82466219 82466804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82491637 82491737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82495939 82496039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82499368 82500967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82500792 82534694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 82525901 82527824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82557673 82995485 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-639K arrays 21546498 NOT_FOUND chr10 82558032 82558132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 8258330 8258415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82608970 85316074 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 NRG3 chr10 82646263 82681127 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 82690401 82690937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82694151 82694251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82704395 82704439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82727718 82728036 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 82740277 82742629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 82768732 82768832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82811460 82811560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82832 86053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82832 86053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 828501 1470500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADARB2,GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B,LINC00200,WDR37 chr10 82871310 82879763 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 82886276 82887071 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 82886276 82887071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 82894638 82894890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 82939884 82939984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 82946002 82981023 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 82971873 85608304 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NRG3 chr10 8302668 8302768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 83052399 83052499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 83089747 87102060 Loss Urothelial carcinoma array CGH validated by FISH 21177765 C10orf99,CDHR1,FAM190B,GHITM,LOC170425,LRIT1,LRIT2,NRG3,RGR chr10 83093081 83093181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 8313669 9370093 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr10 83172398 83207113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 83335592 83360081 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 8336256 8336356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 83486320 83486420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 83540426 83561002 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 83567079 83955328 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 NRG3 chr10 83624786 84736913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRG3 chr10 83624786 84736913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRG3 chr10 83625076 84735341 Copy number Lung cancer - 20668451 NRG3 chr10 83625076 84735341 Gain or loss Breast cancer - 20668451 NRG3 chr10 83625076 84735341 Gain or loss Cancer - 20668451 NRG3 chr10 83625076 84735341 Gain or loss Lung cancer - 20668451 NRG3 chr10 83625076 84735341 Gain or loss Ovarian cancer - 20668451 NRG3 chr10 83625076 84735341 Gain or loss Pancreas cancer - 20668451 NRG3 chr10 83625076 84735341 Gain or loss Prostate cancer - 20668451 NRG3 chr10 83625077 84735341 Gain and loss Pancreatic cancer SNP array 17952125 NRG3 chr10 83627422 84736915 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NRG3 chr10 83635978 83636078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 83649952 83650017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRG3 chr10 83653000 93253000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ACTA2,AGAP11,ANKRD1,ANKRD22,ATAD1,BMPR1A,C10orf116,C10orf99,CDHR1,CFL1P1,CH25H,FAM190B,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FLJ37201,GHITM,GLUD1,GRID1,GRID1-AS1,HECTD2,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LDB3,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100188947,LOC170425,LOC439994,LOC643529,LOC728190,LOC728218,LRIT1,LRIT2,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,NRG3,NUDT9P1,OPN4,PANK1,PAPSS2,PCGF5,PTEN,RGR,RNLS,RPP30,SLC16A12,SNCG,STAMBPL1,WAPAL chr10 8368852 8368952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 83704352 83777944 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NRG3 chr10 83706996 83707091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 83743775 83842008 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NRG3 chr10 83747159 83747259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 83753692 84471068 LOH Normal High-resolution SNP genotyping 21211785 NRG3 chr10 83766071 83789535 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NRG3 chr10 83769 83877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 83791437 83815707 Deletion Normal Standard GISTIC 21527027 NRG3 chr10 83799998 83800084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRG3 chr10 8380000 10650000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 NOT_FOUND chr10 83828465 83861741 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRG3 chr10 83830048 83830148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 83837485 83837585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 83873764 83878999 Loss Normal 244K array 17666407 NRG3 chr10 83874640 83878647 Loss Normal Birdsuite, version 1.5.2 22087296 NRG3 chr10 8391257 8391337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 839137 850462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 83982043 83982143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 83991112 83991183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 84009002 84009102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 84015007 84046192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRG3 chr10 84022420 84022505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 84033480 84034612 Loss Normal Birdsuite, version 1.5.2 22087296 NRG3 chr10 84034612 84048907 Loss Normal Birdsuite, version 1.5.2 22087296 NRG3 chr10 84072973 84298803 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NRG3 chr10 84090507 84090612 Gain and loss Pancreatic cancer SNP array 17952125 NRG3 chr10 84090507 84090612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRG3 chr10 84117795 84120344 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRG3 chr10 84138134 84171245 Deletion Oligozoospermia Array-CGH 20877625 NRG3 chr10 8419238 8419333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 84225801 84230400 Deletion Glioma mate-paired sequence 20126413 NRG3 chr10 84227953 84228445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRG3 chr10 84327997 84328077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRG3 chr10 84340824 84340924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 84357076 84357148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRG3 chr10 84390737 84390885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRG3 chr10 84393781 84421297 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NRG3 chr10 84400707 84421820 Gain Normal Birdsuite, version 1.5.2 22087296 NRG3 chr10 84402215 85452663 LOH Normal High-resolution SNP genotyping 21211785 NRG3 chr10 84425104 84425204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 84433569 84433669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 84472601 84491234 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NRG3 chr10 84501 116000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TUBB8 chr10 84532276 85447355 LOH Normal High-resolution SNP genotyping 21211785 NRG3 chr10 845484 967440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARP4B chr10 845484 967440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARP4B chr10 84549866 84721856 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NRG3 chr10 845741 845965 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 84576527 84576593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 84702750 84702845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRG3 chr10 84702878 84707152 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NRG3 chr10 84702878 84707152 Loss,gain Normal Birdsuite, version 1.5.2 22087296 NRG3 chr10 84774058 84774158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 8478338 8478398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 84807554 84808417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 84817698 84817803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 84817698 84817806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 84817698 84817807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 8482092 8482192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 8485238 9311177 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 848606 848907 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 84865825 84865925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 848866 921700 Gain and loss Pancreatic cancer SNP array 17952125 LARP4B chr10 84918360 84918433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 84929859 85778039 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 84936514 84937833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 84966965 84993217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 8499212 10003246 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr10 85059667 85059737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85061364 85064211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 85146035 85146116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85239858 85267872 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 85287938 85288007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85340547 85341971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 85365906 85366124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 85377649 85377799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85395957 85396057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85467075 85467175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85469345 85469420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 85471902 85505594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 85485242 85486229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 85492274 85492306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85512028 85514412 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 85512696 85513885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 85514094 85514199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 85514094 85514200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 85593484 85593594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 85616198 85616404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 8564853 8565291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 85660196 86298947 LOH Normal High-resolution SNP genotyping 21211785 C10orf99,CDHR1,FAM190B,GHITM,LOC170425,LRIT1,LRIT2,RGR chr10 85720790 86922140 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C10orf99,CDHR1,FAM190B,GHITM,LOC170425,LRIT1,LRIT2,RGR chr10 8573243 10833859 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SFTA1P chr10 85744511 87913935 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C10orf99,CDHR1,FAM190B,GHITM,GRID1,GRID1-AS1,LOC170425,LRIT1,LRIT2,RGR chr10 85746038 85746138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85753068 85753194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 85753068 85753214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 85753068 85753215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 85831162 85831733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 85867632 85867732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85889164 85903291 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 GHITM chr10 85889165 85903291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GHITM chr10 85889165 85903291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GHITM chr10 85889238 85903291 Gain and loss Pancreatic cancer SNP array 17952125 GHITM chr10 85921501 86012500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C10orf99,CDHR1,LRIT1,LRIT2,RGR chr10 85923534 85935027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf99 chr10 85923534 85935027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf99 chr10 85923547 85935019 Gain and loss Pancreatic cancer SNP array 17952125 C10orf99 chr10 85932687 85932761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 85937754 85937854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf99 chr10 85944386 85969354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf99,CDHR1 chr10 85944386 85969354 Gain and loss Pancreatic cancer SNP array 17952125 C10orf99,CDHR1 chr10 85944386 85969354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf99,CDHR1 chr10 8595651 8597166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 8595656 8597075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 85970221 85975264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDHR1 chr10 85970221 85975264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDHR1 chr10 85971679 85971734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDHR1 chr10 85981256 85991197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRIT2 chr10 85981256 85991197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRIT2 chr10 85981514 85991197 Gain and loss Pancreatic cancer SNP array 17952125 LRIT2 chr10 85983052 85983259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIT2 chr10 85983252 85983352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIT2 chr10 85983268 85983475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIT2 chr10 85984629 85984688 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 LRIT2 chr10 85984767 85984867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIT2 chr10 85994789 86008875 Gain and loss Pancreatic cancer SNP array 17952125 LRIT1,RGR chr10 85994789 86009695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRIT1,RGR chr10 85994789 86009695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRIT1,RGR chr10 86018160 86018192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGR chr10 8602563 8603842 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 86062826 86062926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 86071723 86272898 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 FAM190B chr10 86078322 86268256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM190B chr10 86078322 86268256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM190B chr10 86078427 86268249 Gain and loss Pancreatic cancer SNP array 17952125 FAM190B chr10 861038 1091044 Gain Normal Birdsuite, version 1.5.2 22087296 GTPBP4,IDI1,IDI2,IDI2-AS1,LARP4B chr10 86138906 86139362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM190B chr10 86140644 86141781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM190B chr10 86204421 86205792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM190B chr10 86278375 101096913 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACTA2,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ATAD1,AVPI1,BLNK,BMPR1A,BTAF1,C10orf116,C10orf12,C10orf129,C10orf131,C10orf62,CC2D2B,CCNJ,CEP55,CFL1P1,CH25H,CNNM1,CPEB3,CRTAC1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNTT,ENTPD1,EXOC6,EXOSC1,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,FRAT1,FRAT2,GLUD1,GOLGA7B,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HOGA1,HPS1,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LCOR,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100505540,LOC439994,LOC643529,LOC728190,LOC728218,LOC728558,LOXL4,MARCH5,MARK2P9,MARVELD1,MINPP1,MIR107,MIR1287,MIR3157,MIR346,MIR4678,MIR4679-1,MIR4679-2,MIR4685,MIR5692C2,MMRN2,MMS19,MORN4,MYOF,NOC3L,NUDT9P1,O3FAR1,OPALIN,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PGAM1,PI4K2A,PIK3AP1,PIPSL,PLCE1,PPP1R3C,PTEN,PYROXD2,R3HCC1L,RBP4,RNLS,RPP30,RRP12,SFRP5,SLC16A12,SLC35G1,SLIT1,SNCG,SORBS1,STAMBPL1,TBC1D12,TCTN3,TLL2,TM9SF3,TNKS2,UBTD1,WAPAL,ZDHHC16,ZFYVE27,ZNF518A chr10 86310179 86310999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 86310179 86310999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 86310179 86310999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 86354131 86459920 Gain aortic dissecting aneurysms Array-CGH 22263138 NOT_FOUND chr10 86354131 86459920 Gain Stenocardia MACArray Karyo 48K BAC-chips 21860640 NOT_FOUND chr10 86354131 86459920 Gain Vasospasm MACArray Karyo 48K BAC-chips 21860640 NOT_FOUND chr10 86384154 86384254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 86422156 86445860 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 86435704 86436812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 86440838 86850053 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 8644752 8644864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 8644819 8644891 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 86466010 86466333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 86468638 95935762 Loss Prostate cancer Array CGH 18632612 ACTA2,AGAP11,ANKRD1,ANKRD22,ATAD1,BMPR1A,BTAF1,C10orf116,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,EXOC6,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,GLUD1,GRID1,GRID1-AS1,HECTD2,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LDB3,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100188947,LOC439994,LOC643529,LOC728190,LOC728218,MARCH5,MARK2P9,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,MYOF,NUDT9P1,O3FAR1,OPN4,PANK1,PAPSS2,PCGF5,PDE6C,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RNLS,RPP30,SLC16A12,SLC35G1,SNCG,STAMBPL1,TNKS2,WAPAL chr10 86531118 86531196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 86532247 86554720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 86568222 87157814 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 86609957 86642933 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 86702299 87291702 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 86728739 86737531 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 86791755 86792399 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 86800509 86800609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 86928358 86962278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 86954099 87913935 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GRID1,GRID1-AS1 chr10 87011866 87012490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 8701902 8702577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 8702011 8702579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 87029501 87030500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 87049516 87361674 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 GRID1,GRID1-AS1 chr10 87081643 87081743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 87102030 87102130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 87111257 87111357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 87135377 87135477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 87138789 87138879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 87141913 87142000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 87160742 87160881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 87205479 87205545 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 87233845 87235181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 87274601 87304940 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 87287116 87287198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 87287116 87287222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 87290081 87334952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 87308455 87308680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 87308455 87308680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 87349292 88116129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRID1,GRID1-AS1,MIR346 chr10 87349292 88116129 Gain and loss Pancreatic cancer SNP array 17952125 GRID1,GRID1-AS1,MIR346 chr10 87349292 88116129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRID1,GRID1-AS1,MIR346 chr10 87361674 104870900 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC2,ACTA2,ACTR1A,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,ATAD1,AVPI1,BLNK,BLOC1S2,BMPR1A,BTAF1,BTRC,C10orf116,C10orf12,C10orf129,C10orf131,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CC2D2B,CCNJ,CEP55,CFL1P1,CH25H,CHUK,CNNM1,CNNM2,COX15,CPEB3,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM178A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,GBF1,GLUD1,GOLGA7B,GOT1,GRID1,GRID1-AS1,HECTD2,HELLS,HHEX,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KAZALD1,KCNIP2,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LDB3,LGI1,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC439994,LOC643529,LOC728190,LOC728218,LOC728558,LOXL4,LZTS2,MARCH5,MARK2P9,MARVELD1,MGEA5,MINPP1,MIR107,MIR1287,MIR146B,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR4678,MIR4679-1,MIR4679-2,MIR4685,MIR5692C2,MIR608,MMRN2,MMS19,MORN4,MRPL43,MYOF,NDUFB8,NFKB2,NKX2-3,NOC3L,NOLC1,NPM3,NT5C2,NUDT9P1,O3FAR1,OPALIN,OPN4,PANK1,PAPSS2,PAX2,PCGF5,PDE6C,PDLIM1,PDZD7,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,POLL,PPP1R3C,PPRC1,PSD,PTEN,PYROXD2,R3HCC1L,RBP4,RNLS,RPP30,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SLC16A12,SLC25A28,SLC35G1,SLIT1,SNCG,SNORA12,SORBS1,STAMBPL1,SUFU,TBC1D12,TCTN3,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,UBTD1,WAPAL,WBP1L,WNT8B,ZDHHC16,ZFYVE27,ZNF518A chr10 87379557 87379657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 8738685 8738800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 8738685 8738800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 87399836 87399990 Gain and loss Pancreatic cancer SNP array 17952125 GRID1 chr10 87399836 87399990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRID1 chr10 87404082 87404177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87458497 87458904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRID1 chr10 87491745 87930977 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 GRID1 chr10 87498024 87498124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87502880 87502951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87547051 87547151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87547618 87547718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87557947 87558017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87559753 87559896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRID1 chr10 87791026 87798355 Gain Normal Birdsuite, version 1.5.2 22087296 GRID1 chr10 87802185 87802303 Gain and loss Pancreatic cancer SNP array 17952125 GRID1 chr10 87802185 87802303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRID1 chr10 87802185 87802305 Gain and loss Pancreatic cancer SNP array 17952125 GRID1 chr10 878068 879094 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LARP4B chr10 87810001 88154000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRID1,MIR346 chr10 87821425 87821495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87882932 87916829 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRID1 chr10 87900000 111800000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCC2,ACTA2,ACTR1A,ADD3,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,ATAD1,AVPI1,BLNK,BLOC1S2,BMPR1A,BTAF1,BTRC,C10orf116,C10orf12,C10orf129,C10orf131,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CC2D2B,CCDC147,CCNJ,CEP55,CFL1P1,CH25H,CHUK,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM178A,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,GBF1,GLUD1,GOLGA7B,GOT1,GRID1,GSTO1,GSTO2,HECTD2,HELLS,HHEX,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,INA,ITPRIP,KAZALD1,KCNIP2,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LDB3,LGI1,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC439994,LOC643529,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LZTS2,MARCH5,MARK2P9,MARVELD1,MGEA5,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR4482-1,MIR4678,MIR4679-1,MIR4679-2,MIR4685,MIR5692C2,MIR608,MIR609,MIR936,MMRN2,MMS19,MORN4,MRPL43,MYOF,NDUFB8,NEURL,NFKB2,NKX2-3,NOC3L,NOLC1,NPM3,NT5C2,NUDT9P1,O3FAR1,OBFC1,OPALIN,OPN4,PANK1,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDE6C,PDLIM1,PDZD7,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,POLL,PPP1R3C,PPRC1,PSD,PTEN,PYROXD2,R3HCC1L,RBP4,RNLS,RNU6-53,RPP30,RRP12,SCD,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC16A12,SLC25A28,SLC35G1,SLIT1,SLK,SNCG,SNORA12,SORBS1,SORCS1,SORCS3,STAMBPL1,SUFU,TAF5,TBC1D12,TCTN3,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,UBTD1,USMG5,WAPAL,WBP1L,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZFYVE27,ZNF518A chr10 87900000 89500000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 AGAP11,BMPR1A,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,GRID1,LDB3,LOC439994,LOC728190,LOC728218,MINPP1,MIR346,MIR4678,MMRN2,OPN4,PAPSS2,SNCG,WAPAL chr10 87900000 89600000 Deletion Autism high-density microarrays 22241247 AGAP11,ATAD1,BMPR1A,C10orf116,CFL1P1,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,GRID1,LDB3,LOC439994,LOC728190,LOC728218,MINPP1,MIR346,MIR4678,MMRN2,OPN4,PAPSS2,SNCG,WAPAL chr10 87900000 89600000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 AGAP11,ATAD1,BMPR1A,C10orf116,CFL1P1,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,GRID1,LDB3,LOC439994,LOC728190,LOC728218,MINPP1,MIR346,MIR4678,MMRN2,OPN4,PAPSS2,SNCG,WAPAL chr10 87900000 89600000 Loss Intracranial ependymoma matrix-based CGH 16609018 AGAP11,ATAD1,BMPR1A,C10orf116,CFL1P1,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,GRID1,LDB3,LOC439994,LOC728190,LOC728218,MINPP1,MIR346,MIR4678,MMRN2,OPN4,PAPSS2,SNCG,WAPAL chr10 87900000 92900000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 ACTA2,AGAP11,ANKRD1,ANKRD22,ATAD1,BMPR1A,C10orf116,CFL1P1,CH25H,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,FLJ37201,GLUD1,GRID1,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LDB3,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC439994,LOC643529,LOC728190,LOC728218,MINPP1,MIR107,MIR346,MIR4678,MIR4679-1,MIR4679-2,MMRN2,OPN4,PANK1,PAPSS2,PTEN,RNLS,RPP30,SLC16A12,SNCG,STAMBPL1,WAPAL chr10 87924325 87924425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87927670 87927770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87930000 90770000 Loss Acute lymphoblastic leukemia - 21339820 ACTA2,AGAP11,ANKRD22,ATAD1,BMPR1A,C10orf116,CFL1P1,FAM22A,FAM22D,FAM25A,FAM35A,FAS,FAS-AS1,GLUD1,GRID1,KLLN,LDB3,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC439994,LOC728190,LOC728218,MINPP1,MIR346,MIR4678,MMRN2,OPN4,PAPSS2,PTEN,RNLS,SNCG,STAMBPL1,WAPAL chr10 87941666 87949029 Deletion Autism quantitative PCR 19404257 GRID1 chr10 87963098 87963294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87963208 87963308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87963299 87963479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 87964009 88041083 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 GRID1,MIR346 chr10 87994842 87994942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 88014424 88014521 Gain and loss Pancreatic cancer SNP array 17952125 GRID1 chr10 88014431 88014525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRID1 chr10 88028365 88028465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 88046488 88046570 Gain and loss Pancreatic cancer SNP array 17952125 GRID1 chr10 88050201 88050288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRID1 chr10 88075834 88075932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRID1 chr10 8812580 8812654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 88150256 88150326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 88170611 88170706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 88181211 88349077 Amplification or deletion Cancer Array CGH 17440070 WAPAL chr10 88184992 88271521 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 WAPAL chr10 88184993 88271552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WAPAL chr10 88184993 88271552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WAPAL chr10 88184994 88271521 Gain and loss Pancreatic cancer SNP array 17952125 WAPAL chr10 88213731 88247530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WAPAL chr10 8821985 8822313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 88227675 135374737 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,AGAP11,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BMPR1A,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf116,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CEP55,CFL1P1,CH25H,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM196A,FAM204A,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM35A,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GLRX3,GLUD1,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100169752,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC439994,LOC619207,LOC643529,LOC728190,LOC728218,LOC728558,LOC729020,LOXL4,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MCMBP,METTL10,MGEA5,MGMT,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMRN2,MMS19,MORN4,MRPL43,MTG1,MXI1,MYOF,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,OPN4,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP1R3C,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,STAMBPL1,STK32C,SUFU,SYCE1,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WAPAL,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZNF518A,ZRANB1 chr10 88238183 88238276 Gain and loss Pancreatic cancer SNP array 17952125 WAPAL chr10 88238183 88238286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WAPAL chr10 88250167 88260367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WAPAL chr10 8830111 8830223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 88380562 88381347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 88380562 88381365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 88380562 88381365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 88394501 88467000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LDB3,OPN4 chr10 88403687 88477734 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LDB3,OPN4 chr10 88404294 88416192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OPN4 chr10 88404294 88416192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPN4 chr10 88404378 88416192 Gain and loss Pancreatic cancer SNP array 17952125 OPN4 chr10 88413791 88413871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 88418350 88484732 Gain and loss Pancreatic cancer SNP array 17952125 LDB3,OPN4 chr10 88418350 88485802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDB3,OPN4 chr10 88418350 88485802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDB3,OPN4 chr10 88443366 88611401 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BMPR1A,LDB3 chr10 88495610 88495686 Gain and loss Pancreatic cancer SNP array 17952125 LDB3 chr10 88495610 88495686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDB3 chr10 88505038 89299742 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,BMPR1A,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,LOC728218,MINPP1,MIR4678,MMRN2,SNCG chr10 88505501 88507000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 88506375 88674925 Copy number Lung cancer - 20668451 BMPR1A chr10 88506375 88674925 Gain or loss Breast cancer - 20668451 BMPR1A chr10 88506375 88674925 Gain or loss Cancer - 20668451 BMPR1A chr10 88506375 88674925 Gain or loss Lung cancer - 20668451 BMPR1A chr10 88506375 88674925 Gain or loss Ovarian cancer - 20668451 BMPR1A chr10 88506375 88674925 Gain or loss Pancreas cancer - 20668451 BMPR1A chr10 88506375 88674925 Gain or loss Prostate cancer - 20668451 BMPR1A chr10 88506376 88674925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMPR1A chr10 88506376 88674925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMPR1A chr10 88513440 88513472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 88553411 88553511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMPR1A chr10 88555638 88555716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BMPR1A chr10 88557449 88565416 Loss Normal 244K array 17666407 BMPR1A chr10 88576908 88598780 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BMPR1A chr10 88600269 88600369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMPR1A chr10 8861536 8893810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 88616596 88898563 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,BMPR1A,C10orf116,FAM25A,FAM35A,GLUD1,MMRN2,SNCG chr10 88616596 89041452 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,BMPR1A,C10orf116,FAM22A,FAM25A,FAM35A,GLUD1,LOC728190,MMRN2,SNCG chr10 88616596 89105572 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,BMPR1A,C10orf116,FAM22A,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,MMRN2,SNCG chr10 88616596 89195346 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,BMPR1A,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,LOC728218,MMRN2,SNCG chr10 88616596 89299742 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,BMPR1A,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,LOC728218,MINPP1,MIR4678,MMRN2,SNCG chr10 88625756 88673456 Gain and loss Pancreatic cancer SNP array 17952125 BMPR1A chr10 88638498 88638585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMPR1A chr10 88639306 88639470 Gain and loss Pancreatic cancer SNP array 17952125 BMPR1A chr10 88639308 88639470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMPR1A chr10 88639312 88639470 Gain and loss Pancreatic cancer SNP array 17952125 BMPR1A chr10 88654201 88658400 Deletion Glioma mate-paired sequence 20126413 BMPR1A chr10 88656156 88656495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BMPR1A chr10 88656157 88656495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BMPR1A chr10 88660303 88691580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BMPR1A chr10 88682441 88682501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMPR1A chr10 88685576 88707352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMRN2 chr10 88685576 88707352 Gain and loss Pancreatic cancer SNP array 17952125 MMRN2 chr10 88685576 88707352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMRN2 chr10 88688001 88723000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MMRN2,SNCG chr10 88706078 88714691 Loss Normal 244K array 17666407 MMRN2 chr10 88708351 88712995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMRN2 chr10 88708351 88712995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMRN2 chr10 88708365 88712997 Gain and loss Pancreatic cancer SNP array 17952125 MMRN2 chr10 88715605 88898563 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,C10orf116,FAM25A,FAM35A,GLUD1,MMRN2,SNCG chr10 88715605 89041452 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,C10orf116,FAM22A,FAM25A,FAM35A,GLUD1,LOC728190,MMRN2,SNCG chr10 88715605 89105572 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,C10orf116,FAM22A,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,MMRN2,SNCG chr10 88715605 89195346 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,LOC728218,MMRN2,SNCG chr10 88715605 89299742 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGAP11,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,LOC728218,MINPP1,MIR4678,MMRN2,SNCG chr10 88718168 88720646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNCG chr10 88718168 88720646 Gain and loss Pancreatic cancer SNP array 17952125 SNCG chr10 88718168 88720646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNCG chr10 88729061 88729156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf116 chr10 88742143 88759940 Gain and loss Pancreatic cancer SNP array 17952125 AGAP11 chr10 88743169 88774465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP11 chr10 88743169 88774465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP11 chr10 88751319 88759929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP11 chr10 88751319 88759929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP11 chr10 88768001 88770000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP11 chr10 88770044 88774465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 88770044 88774465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 88770062 88774465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 88790800 88790870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 88790975 88791077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 88790975 88791078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 88790975 88791078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 88799983 88800057 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 88799983 88800057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 88800227 88844603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLUD1 chr10 88800227 88844603 Gain and loss Pancreatic cancer SNP array 17952125 GLUD1 chr10 88800227 88844603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLUD1 chr10 88827234 88827410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLUD1 chr10 88844933 88941200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM35A,GLUD1 chr10 88844933 88941200 Gain and loss Pancreatic cancer SNP array 17952125 FAM35A,GLUD1 chr10 88844933 88941200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM35A,GLUD1 chr10 88872927 89213955 Substitutions and indels small cell lung cancer array-CGH 20016488 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190,LOC728218 chr10 88878227 89299742 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190,LOC728218,MINPP1,MIR4678 chr10 88903867 88904105 Gain and loss Pancreatic cancer SNP array 17952125 FAM35A chr10 88903867 88904105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM35A chr10 88943287 89105572 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM22A,FAM35A,LOC439994,LOC728190 chr10 88943287 89195346 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190,LOC728218 chr10 88943287 89299742 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190,LOC728218,MINPP1,MIR4678 chr10 88943287 89299742 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190,LOC728218,MINPP1,MIR4678 chr10 88974000 89943000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 ATAD1,CFL1P1,FAM22A,FAM22D,KLLN,LOC439994,LOC728190,LOC728218,MINPP1,MIR4678,PAPSS2,PTEN chr10 88975185 88984892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 88975237 89120432 Gain and loss Pancreatic cancer SNP array 17952125 FAM22A,FAM22D,LOC439994,LOC728190 chr10 88977030 89149419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM22A,FAM22D,LOC439994,LOC728190 chr10 88977696 89123516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM22A,FAM22D,LOC439994,LOC728190 chr10 88982041 89154814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM22A,FAM22D,LOC439994,LOC728190 chr10 88987279 89059776 Loss Normal Birdsuite, version 1.5.2 22087296 FAM22A,LOC728190 chr10 89036479 91160392 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ACTA2,ANKRD22,ATAD1,CFL1P1,CH25H,FAM22D,FAS,FAS-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,KLLN,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC439994,LOC728190,LOC728218,MINPP1,MIR4678,MIR4679-1,MIR4679-2,PAPSS2,PTEN,RNLS,STAMBPL1 chr10 89059776 89060724 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC728190 chr10 89060724 89084996 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC728190 chr10 89084996 89093028 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC728190 chr10 89093028 89098396 Loss Normal Birdsuite, version 1.5.2 22087296 LOC728190 chr10 89107268 89185710 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM22D,LOC728218 chr10 89107405 89117109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 89107405 89117109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 89126633 89128218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM22D chr10 89136422 89139940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 891375 891812 Copy number Autism exome sequencing 22495311 LARP4B chr10 89138473 89180420 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC728218 chr10 89139568 89265924 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC728218,MINPP1,MIR4678 chr10 89148083 89174470 Gain Normal 244K array 17666407 LOC728218 chr10 8915028 8949201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 89154174 89824376 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ATAD1,CFL1P1,KLLN,LOC728218,MINPP1,MIR4678,PAPSS2,PTEN chr10 89154174 90223085 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ATAD1,CFL1P1,KLLN,LOC728218,MINPP1,MIR4678,PAPSS2,PTEN,RNLS chr10 89157781 89157995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728218 chr10 89174470 89199792 Loss or gain Normal 244K array 17666407 NOT_FOUND chr10 89251575 95867703 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTA2,ANKRD1,ANKRD22,ATAD1,BTAF1,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,EXOC6,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,HECTD2,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100188947,LOC643529,MARCH5,MARK2P9,MINPP1,MIR107,MIR4678,MIR4679-1,MIR4679-2,MYOF,NUDT9P1,O3FAR1,PANK1,PAPSS2,PCGF5,PDE6C,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RNLS,RPP30,SLC16A12,SLC35G1,STAMBPL1,TNKS2 chr10 89252832 110220935 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-635K arrays 21546498 ABCC2,ACTA2,ACTR1A,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,ATAD1,AVPI1,BLNK,BLOC1S2,BTAF1,BTRC,C10orf12,C10orf129,C10orf131,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CC2D2B,CCDC147,CCNJ,CEP55,CFL1P1,CH25H,CHUK,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM178A,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,GBF1,GOLGA7B,GOT1,GSTO1,GSTO2,HECTD2,HELLS,HHEX,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,INA,ITPRIP,KAZALD1,KCNIP2,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LGI1,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC643529,LOC728558,LOC729020,LOXL4,LZTS2,MARCH5,MARK2P9,MARVELD1,MGEA5,MINPP1,MIR107,MIR1287,MIR1307,MIR146B,MIR3157,MIR3158-1,MIR3158-2,MIR4482-1,MIR4678,MIR4679-1,MIR4679-2,MIR4685,MIR5692C2,MIR608,MIR609,MIR936,MMS19,MORN4,MRPL43,MYOF,NDUFB8,NEURL,NFKB2,NKX2-3,NOC3L,NOLC1,NPM3,NT5C2,NUDT9P1,O3FAR1,OBFC1,OPALIN,PANK1,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDE6C,PDLIM1,PDZD7,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,POLL,PPP1R3C,PPRC1,PSD,PTEN,PYROXD2,R3HCC1L,RBP4,RNLS,RPP30,RRP12,SCD,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC16A12,SLC25A28,SLC35G1,SLIT1,SLK,SNORA12,SORBS1,SORCS1,SORCS3,STAMBPL1,SUFU,TAF5,TBC1D12,TCTN3,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,UBTD1,USMG5,WBP1L,WDR96,WNT8B,ZDHHC16,ZFYVE27,ZNF518A chr10 89254202 89303148 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 MINPP1,MIR4678 chr10 89254631 89303124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MINPP1,MIR4678 chr10 89254631 89303124 Gain and loss Pancreatic cancer SNP array 17952125 MINPP1,MIR4678 chr10 89254631 89303124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINPP1,MIR4678 chr10 89263559 90039613 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ATAD1,CFL1P1,KLLN,MINPP1,MIR4678,PAPSS2,PTEN,RNLS chr10 89263801 89268000 Deletion Glioma mate-paired sequence 20126413 MINPP1 chr10 89265522 89266538 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MINPP1 chr10 89265615 89267035 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MINPP1 chr10 89265778 89266535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MINPP1 chr10 89279608 89279708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MINPP1 chr10 89287771 89390708 Amplification or deletion Cancer Array CGH 17440070 MINPP1 chr10 89300261 91254269 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTA2,ANKRD22,ATAD1,CFL1P1,CH25H,FAS,FAS-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KLLN,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,MINPP1,MIR4679-1,MIR4679-2,PAPSS2,PTEN,RNLS,SLC16A12,STAMBPL1 chr10 89302706 89306468 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MINPP1 chr10 89312825 89312923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINPP1 chr10 89347497 89379321 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr10 89373511 89373681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 89373564 89373664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 89376118 89376215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 89386127 89386403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 89392344 89392691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 89393903 89393993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 89394661 89394702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 89404929 92732411 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTA2,ANKRD1,ANKRD22,ATAD1,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PAPSS2,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89408233 89610893 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ATAD1,CFL1P1,PAPSS2 chr10 89408233 89773113 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ATAD1,CFL1P1,KLLN,PAPSS2,PTEN chr10 89408233 90098699 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ATAD1,CFL1P1,KLLN,PAPSS2,PTEN,RNLS chr10 89409455 89497442 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PAPSS2 chr10 89409456 89497440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPSS2 chr10 89409456 89497440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPSS2 chr10 89409608 89496142 Gain and loss Pancreatic cancer SNP array 17952125 PAPSS2 chr10 89445919 102120260 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ABCC2,ACTA2,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ATAD1,AVPI1,BLNK,BLOC1S2,BTAF1,C10orf12,C10orf129,C10orf131,C10orf62,CC2D2B,CCNJ,CEP55,CFL1P1,CH25H,CHUK,CNNM1,COX15,CPEB3,CPN1,CRTAC1,CUTC,CWF19L1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNMBP,DNMBP-AS1,DNTT,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,FRAT1,FRAT2,GOLGA7B,GOT1,HECTD2,HELLS,HHEX,HOGA1,HPS1,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LCOR,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100505540,LOC643529,LOC728558,LOXL4,MARCH5,MARK2P9,MARVELD1,MIR107,MIR1287,MIR3157,MIR4679-1,MIR4679-2,MIR4685,MIR5692C2,MMS19,MORN4,MYOF,NKX2-3,NOC3L,NUDT9P1,O3FAR1,OPALIN,PANK1,PAPSS2,PCGF5,PDE6C,PDLIM1,PGAM1,PI4K2A,PIK3AP1,PIPSL,PKD2L1,PLCE1,PPP1R3C,PTEN,PYROXD2,R3HCC1L,RBP4,RNLS,RPP30,RRP12,SCD,SFRP5,SLC16A12,SLC25A28,SLC35G1,SLIT1,SNORA12,SORBS1,STAMBPL1,TBC1D12,TCTN3,TLL2,TM9SF3,TNKS2,UBTD1,ZDHHC16,ZFYVE27,ZNF518A chr10 89454410 89454510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAPSS2 chr10 89467202 90419015 Deletion Cancer Affymetrix 250K Sty array 20164920 ATAD1,CFL1P1,KLLN,LIPJ,PAPSS2,PTEN,RNLS chr10 89500000 111900000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCC2,ACTA2,ACTR1A,ADD3,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,ATAD1,AVPI1,BLNK,BLOC1S2,BTAF1,BTRC,C10orf12,C10orf129,C10orf131,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CC2D2B,CCDC147,CCNJ,CEP55,CFL1P1,CH25H,CHUK,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM178A,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,GBF1,GOLGA7B,GOT1,GSTO1,GSTO2,HECTD2,HELLS,HHEX,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,INA,ITPRIP,KAZALD1,KCNIP2,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LGI1,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC643529,LOC728558,LOC729020,LOXL4,LZTS2,MARCH5,MARK2P9,MARVELD1,MGEA5,MIR107,MIR1287,MIR1307,MIR146B,MIR3157,MIR3158-1,MIR3158-2,MIR4482-1,MIR4679-1,MIR4679-2,MIR4685,MIR5692C2,MIR608,MIR609,MIR936,MMS19,MORN4,MRPL43,MYOF,NDUFB8,NEURL,NFKB2,NKX2-3,NOC3L,NOLC1,NPM3,NT5C2,NUDT9P1,O3FAR1,OBFC1,OPALIN,PANK1,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDE6C,PDLIM1,PDZD7,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,POLL,PPP1R3C,PPRC1,PSD,PTEN,PYROXD2,R3HCC1L,RBP4,RNLS,RNU6-53,RPP30,RRP12,SCD,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC16A12,SLC25A28,SLC35G1,SLIT1,SLK,SNORA12,SORBS1,SORCS1,SORCS3,STAMBPL1,SUFU,TAF5,TBC1D12,TCTN3,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,UBTD1,USMG5,WBP1L,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZFYVE27,ZNF518A chr10 89500000 135534747 Loss Prostate cancer Array CGH 16573809 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CEP55,CFL1P1,CH25H,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRG2B,FUOM,GBF1,GFRA1,GLRX3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KIF11,KIF20B,KLLN,KNDC1,LBX1,LCOR,LDB1,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100169752,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LOC643529,LOC728558,LOC729020,LOXL4,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MCMBP,METTL10,MGEA5,MGMT,MIR107,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMS19,MORN4,MRPL43,MTG1,MXI1,MYOF,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,PANK1,PAOX,PAPSS2,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP1R3C,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,SPRNP1,STAMBPL1,STK32C,SUFU,SYCE1,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZNF518A,ZRANB1 chr10 89500000 92900000 Copy number Effusion lymphoma Real-time QPCR 18079361 ACTA2,ANKRD1,ANKRD22,ATAD1,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PAPSS2,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89500000 92900000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ACTA2,ANKRD1,ANKRD22,ATAD1,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PAPSS2,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89500000 92900000 Deletion Colorectal cancer GISTIC software 19359472 ACTA2,ANKRD1,ANKRD22,ATAD1,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PAPSS2,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89500000 92900000 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACTA2,ANKRD1,ANKRD22,ATAD1,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PAPSS2,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89500000 92900000 Loss Basal-like breast cancer 32K BAC Array CGH platform 18066063 ACTA2,ANKRD1,ANKRD22,ATAD1,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PAPSS2,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89500000 92900000 Loss Prostate cancer Array CGH 16461572 ACTA2,ANKRD1,ANKRD22,ATAD1,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PAPSS2,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89500000 94100000 Loss Prostate cancer Array CGH 16573809 ACTA2,ANKRD1,ANKRD22,ATAD1,BTAF1,CFL1P1,CH25H,CPEB3,FAS,FAS-AS1,FGFBP3,FLJ37201,HECTD2,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100188947,LOC643529,MARCH5,MIR107,MIR4679-1,MIR4679-2,NUDT9P1,PANK1,PAPSS2,PCGF5,PPP1R3C,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1,TNKS2 chr10 89502854 89567897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD1,PAPSS2 chr10 89502854 89567897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD1,PAPSS2 chr10 89502855 89567897 Deletion T-cell lymphomas Array-CGH 22341440 ATAD1,PAPSS2 chr10 89502855 89567897 Gain and loss Pancreatic cancer SNP array 17952125 ATAD1,PAPSS2 chr10 89509440 90381995 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ATAD1,CFL1P1,KLLN,LIPJ,PTEN,RNLS chr10 89545841 89680005 Deletion Glioblastoma multiforme Array CGH 19115005 ATAD1,CFL1P1,KLLN,PTEN chr10 89566637 90742505 Deletion Prostate cancer array-based comparativegenomic hybridization 21147910 ACTA2,ANKRD22,ATAD1,CFL1P1,KLLN,LIPF,LIPJ,LIPK,LIPM,LIPN,PTEN,RNLS,STAMBPL1 chr10 89567590 90887587 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACTA2,ANKRD22,ATAD1,CFL1P1,FAS,FAS-AS1,KLLN,LIPF,LIPJ,LIPK,LIPM,LIPN,MIR4679-1,MIR4679-2,PTEN,RNLS,STAMBPL1 chr10 89567727 90024018 Deletion Normal Arbitrated Peel-off 21527027 ATAD1,CFL1P1,KLLN,PTEN chr10 89567727 90024018 Deletion Normal GeneGISTIC 21527027 ATAD1,CFL1P1,KLLN,PTEN chr10 89567727 90024018 Deletion Normal Standard peel-off 21527027 ATAD1,CFL1P1,KLLN,PTEN chr10 89569695 89600549 Deletion Normal GISTIC2.0 21527027 ATAD1,CFL1P1 chr10 89573158 134973380 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-640K arrays 21546498 ABCC2,ABLIM1,ACADSB,ACSL5,ACTA2,ACTR1A,ADAM12,ADD3,ADRA2A,ADRB1,AFAP1L2,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATAD1,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,CACUL1,CALHM1,CALHM2,CALHM3,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CEP55,CFL1P1,CH25H,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,EBF3,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FGFR2,FLJ37035,FLJ37201,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,GBF1,GFRA1,GLRX3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,HTRA1,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LGI1,LHPP,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100169752,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC643529,LOC728558,LOC729020,LOXL4,LRRC27,LZTS2,MARCH5,MARK2P9,MARVELD1,MCMBP,METTL10,MGEA5,MGMT,MIR107,MIR1287,MIR1307,MIR146B,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR3663,MIR378C,MIR3941,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMS19,MORN4,MRPL43,MXI1,MYOF,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NSMCE4A,NT5C2,NUDT9P1,O3FAR1,OAT,OBFC1,OPALIN,PANK1,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP1R3C,PPP2R2D,PPRC1,PRDX3,PRLHR,PSD,PSTK,PTEN,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RBP4,RGS10,RNLS,RNU6-53,RPL13AP6,RPP30,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,STAMBPL1,STK32C,SUFU,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,TTC40,UBTD1,UROS,USMG5,VAX1,VTI1A,VWA2,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF518A,ZRANB1 chr10 89574656 90098699 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ATAD1,CFL1P1,KLLN,PTEN,RNLS chr10 89581652 89581752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CFL1P1 chr10 89582555 89582827 Gain and loss Pancreatic cancer SNP array 17952125 CFL1P1 chr10 89582555 89582827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFL1P1 chr10 89589334 90653819 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD22,CFL1P1,KLLN,LIPF,LIPJ,LIPK,LIPM,LIPN,PTEN,RNLS,STAMBPL1 chr10 89589335 89601600 Deletion Normal Standard GISTIC 21527027 CFL1P1 chr10 89593607 89593942 Gain and loss Pancreatic cancer SNP array 17952125 CFL1P1 chr10 89593607 89593980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFL1P1 chr10 89600000 119100000 Loss Breast cancer Array CGH 16608533 ABCC2,ABLIM1,ACSL5,ACTA2,ACTR1A,ADD3,ADRA2A,ADRB1,AFAP1L2,ALDH18A1,ANKRD1,ANKRD2,ANKRD22,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,ATRNL1,AVPI1,BBIP1,BLNK,BLOC1S2,BTAF1,BTRC,C10orf118,C10orf12,C10orf129,C10orf131,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf95,CALHM1,CALHM2,CALHM3,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CEP55,CFL1P1,CH25H,CHUK,CNNM1,CNNM2,COL17A1,COX15,CPEB3,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DNMBP,DNMBP-AS1,DNTT,DPCD,DUSP5,ELOVL3,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOC6,EXOSC1,FAM160B1,FAM178A,FAS,FAS-AS1,FBXL15,FBXW4,FGF8,FGFBP3,FLJ37201,FLJ41350,FRA10AC1,FRAT1,FRAT2,GBF1,GFRA1,GOLGA7B,GOT1,GPAM,GSTO1,GSTO2,GUCY2GP,HABP2,HECTD2,HELLS,HHEX,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,INA,ITPRIP,KAZALD1,KCNIP2,KCNK18,KIAA1598,KIF11,KIF20B,KLLN,LBX1,LCOR,LDB1,LGI1,LINC00263,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC643529,LOC728558,LOC729020,LOXL4,LZTS2,MARCH5,MARK2P9,MARVELD1,MGEA5,MIR107,MIR1287,MIR1307,MIR146B,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR3663,MIR4295,MIR4482-1,MIR4483,MIR4679-1,MIR4679-2,MIR4680,MIR4685,MIR5692C2,MIR608,MIR609,MIR936,MMS19,MORN4,MRPL43,MXI1,MYOF,NDUFB8,NEURL,NFKB2,NHLRC2,NKX2-3,NOC3L,NOLC1,NPM3,NRAP,NT5C2,NUDT9P1,O3FAR1,OBFC1,OPALIN,PANK1,PAX2,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PIPSL,PITX3,PKD2L1,PLCE1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPP1R3C,PPRC1,PSD,PTEN,PYROXD2,R3HCC1L,RBM20,RBP4,RNLS,RNU6-53,RPL13AP6,RPP30,RRP12,SCD,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SH3PXD2A,SHOC2,SLC16A12,SLC18A2,SLC25A28,SLC35G1,SLIT1,SLK,SMC3,SMNDC1,SNORA12,SORBS1,SORCS1,SORCS3,STAMBPL1,SUFU,TAF5,TBC1D12,TCF7L2,TCTN3,TDRD1,TECTB,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TNKS2,TRIM8,TRUB1,UBTD1,USMG5,VAX1,VTI1A,VWA2,WBP1L,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF518A chr10 89600000 92900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 92900000 Copy number Prostate cancer - 21088497 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 92900000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 92900000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 92900000 Deletion Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 92900000 Deletion Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 92900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 92900000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 92900000 Loss Intracranial ependymoma matrix-based CGH 16609018 ACTA2,ANKRD1,ANKRD22,CFL1P1,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,KLLN,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,PANK1,PTEN,RNLS,RPP30,SLC16A12,STAMBPL1 chr10 89600000 98000000 Copy number Breast cancer - 16397240 ACTA2,ALDH18A1,ANKRD1,ANKRD22,BLNK,BTAF1,C10orf129,C10orf131,CC2D2B,CCNJ,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,ENTPD1,EXOC6,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC643529,LOC728558,MARCH5,MARK2P9,MIR107,MIR3157,MIR4679-1,MIR4679-2,MYOF,NOC3L,NUDT9P1,O3FAR1,PANK1,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RNLS,RPP30,SLC16A12,SLC35G1,SORBS1,STAMBPL1,TBC1D12,TCTN3,TNKS2,ZNF518A chr10 89600000 98000000 Copy number Normal - 21701786 ACTA2,ALDH18A1,ANKRD1,ANKRD22,BLNK,BTAF1,C10orf129,C10orf131,CC2D2B,CCNJ,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,ENTPD1,EXOC6,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC643529,LOC728558,MARCH5,MARK2P9,MIR107,MIR3157,MIR4679-1,MIR4679-2,MYOF,NOC3L,NUDT9P1,O3FAR1,PANK1,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RNLS,RPP30,SLC16A12,SLC35G1,SORBS1,STAMBPL1,TBC1D12,TCTN3,TNKS2,ZNF518A chr10 89600000 98000000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 ACTA2,ALDH18A1,ANKRD1,ANKRD22,BLNK,BTAF1,C10orf129,C10orf131,CC2D2B,CCNJ,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,ENTPD1,EXOC6,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC643529,LOC728558,MARCH5,MARK2P9,MIR107,MIR3157,MIR4679-1,MIR4679-2,MYOF,NOC3L,NUDT9P1,O3FAR1,PANK1,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RNLS,RPP30,SLC16A12,SLC35G1,SORBS1,STAMBPL1,TBC1D12,TCTN3,TNKS2,ZNF518A chr10 89600000 98000000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ACTA2,ALDH18A1,ANKRD1,ANKRD22,BLNK,BTAF1,C10orf129,C10orf131,CC2D2B,CCNJ,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,ENTPD1,EXOC6,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC643529,LOC728558,MARCH5,MARK2P9,MIR107,MIR3157,MIR4679-1,MIR4679-2,MYOF,NOC3L,NUDT9P1,O3FAR1,PANK1,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RNLS,RPP30,SLC16A12,SLC35G1,SORBS1,STAMBPL1,TBC1D12,TCTN3,TNKS2,ZNF518A chr10 89600000 98000000 Loss Non-small cell lung cancer dChip 21829676 ACTA2,ALDH18A1,ANKRD1,ANKRD22,BLNK,BTAF1,C10orf129,C10orf131,CC2D2B,CCNJ,CEP55,CFL1P1,CH25H,CPEB3,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,ENTPD1,EXOC6,FAS,FAS-AS1,FGFBP3,FLJ37201,FRA10AC1,HECTD2,HELLS,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,KLLN,LGI1,LINC00502,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100188947,LOC643529,LOC728558,MARCH5,MARK2P9,MIR107,MIR3157,MIR4679-1,MIR4679-2,MYOF,NOC3L,NUDT9P1,O3FAR1,PANK1,PCGF5,PDE6C,PDLIM1,PIPSL,PLCE1,PPP1R3C,PTEN,RBP4,RNLS,RPP30,SLC16A12,SLC35G1,SORBS1,STAMBPL1,TBC1D12,TCTN3,TNKS2,ZNF518A chr10 89608390 89609752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 89613174 89718512 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 KLLN,PTEN chr10 89613174 89718512 Amplification Non-syndromic sensorineural hearing loss Array-CGH 20020426 KLLN,PTEN chr10 89613174 89718512 Copy number Cancer References 22000013 KLLN,PTEN chr10 89613174 89718512 Copy number Lung cancer - 20668451 KLLN,PTEN chr10 89613174 89718512 Deletion Breast cancer - 17634833 KLLN,PTEN chr10 89613174 89718512 Deletion Cancer Array hybridization,GeneChip Human Mapping 250K,Affymetrix GeneChip Human Mapping 500k,Agilent Human 105K,PCR-based exon re-sequencing and RT-PCR,Fluorescence In Situ Hybridization (FISH) 20215515 KLLN,PTEN chr10 89613174 89718512 Deletioneted Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 KLLN,PTEN chr10 89613174 89718512 Deletion Glioblastoma multiforme Illumina SNP arrays 22286061 KLLN,PTEN chr10 89613174 89718512 Deletion Glioblastoma multiforme SNP chips 21727940 KLLN,PTEN chr10 89613174 89718512 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KLLN,PTEN chr10 89613174 89718512 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 KLLN,PTEN chr10 89613174 89718512 Deletion Prostate cancer FISH 17700571 KLLN,PTEN chr10 89613174 89718512 Gain or loss Breast cancer - 20668451 KLLN,PTEN chr10 89613174 89718512 Gain or loss Cancer - 20668451 KLLN,PTEN chr10 89613174 89718512 Gain or loss Lung cancer - 20668451 KLLN,PTEN chr10 89613174 89718512 Gain or loss Ovarian cancer - 20668451 KLLN,PTEN chr10 89613174 89718512 Gain or loss Pancreas cancer - 20668451 KLLN,PTEN chr10 89613174 89718512 Gain or loss Prostate cancer - 20668451 KLLN,PTEN chr10 89613174 89718512 Loss Cutaneous malignant melanoma Western blot 18794153 KLLN,PTEN chr10 89613174 89718512 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 KLLN,PTEN chr10 89613174 89718512 Neutra Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 KLLN,PTEN chr10 89613175 89716382 Deletion T-cell lymphomas Array-CGH 22341440 KLLN,PTEN chr10 89613175 89718511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLLN,PTEN chr10 89613175 89718511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLLN,PTEN chr10 89613370 89715495 Gain and loss Pancreatic cancer SNP array 17952125 KLLN,PTEN chr10 89623194 89728531 Copy number Autism ref 20964600 KLLN,PTEN chr10 89623194 89728531 Loss Endometrial cancer GISTIC software 19261849 KLLN,PTEN chr10 89623194 89728532 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 KLLN,PTEN chr10 89623194 89728532 Loss Malignant melanoma BAC array CGH 17260012 KLLN,PTEN chr10 89635453 89993748 Deletion Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 PTEN chr10 89642804 89643702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTEN chr10 89652825 89653723 Deletion Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 PTEN chr10 89652825 89653723 Deletion Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 PTEN chr10 89666000 89728000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 PTEN chr10 89670000 89950000 Deletion Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 PTEN chr10 89675267 89701622 Deletion Bannayan-Riley-Ruvalcaba syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 PTEN chr10 89695239 89695761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTEN chr10 89700151 89706448 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 PTEN chr10 89701287 89711736 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 PTEN chr10 89744355 89744432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 89744355 89744432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 89797872 89799560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 89814963 89815164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 89921850 89921950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 89972719 89988262 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr10 90023601 90332927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNLS chr10 90023601 90332927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNLS chr10 90023601 90332988 Deletion T-cell lymphomas Array-CGH 22341440 RNLS chr10 90024698 90332927 Gain and loss Pancreatic cancer SNP array 17952125 RNLS chr10 90033839 90333062 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 RNLS chr10 90081520 90201144 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 RNLS chr10 90106496 90106562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNLS chr10 90117193 90117282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNLS chr10 90124835 90124928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNLS chr10 90175055 90451117 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 LIPF,LIPJ,RNLS chr10 90319905 90320005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNLS chr10 90324159 90357870 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 LIPJ,RNLS chr10 90335375 90335470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNLS chr10 90335377 90335470 Gain and loss Pancreatic cancer SNP array 17952125 RNLS chr10 90335378 90335468 Gain and loss Pancreatic cancer SNP array 17952125 RNLS chr10 90336499 90356712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIPJ,RNLS chr10 90336499 90356712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPJ,RNLS chr10 90344868 90556337 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LIPF,LIPJ,LIPK,LIPN chr10 90361876 90361976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIPJ chr10 90367960 90368671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 90368226 90368672 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 90405987 90428552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIPF chr10 90405987 90428552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPF chr10 90414073 90428552 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 LIPF chr10 90414195 90428545 Gain and loss Pancreatic cancer SNP array 17952125 LIPF chr10 90414196 90428542 Deletion T-cell lymphomas Array-CGH 22341440 LIPF chr10 90414900 90440118 Amplification or deletion Cancer Array CGH 17440070 LIPF chr10 90427809 90427841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIPF chr10 90440000 92920000 Deletion Sezary syndrome Array-based CGH 18413736 ACTA2,ANKRD1,ANKRD22,CH25H,FAS,FAS-AS1,FLJ37201,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,LINC00502,LIPA,LIPK,LIPM,LIPN,LOC643529,MIR107,MIR4679-1,MIR4679-2,NUDT9P1,PANK1,RPP30,SLC16A12,STAMBPL1 chr10 90444959 90445083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 90462007 90462255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 90474280 90502493 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 LIPK chr10 90474281 90502523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIPK chr10 90474281 90502523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPK chr10 90477222 90478651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 90488702 94393578 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACTA2,ANKRD1,ANKRD22,BTAF1,CH25H,CPEB3,FAS,FAS-AS1,FGFBP3,FLJ37201,HECTD2,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,LINC00502,LIPA,LIPK,LIPM,LIPN,LOC100188947,LOC643529,MARCH5,MARK2P9,MIR107,MIR4679-1,MIR4679-2,NUDT9P1,PANK1,PCGF5,PPP1R3C,RPP30,SLC16A12,STAMBPL1,TNKS2 chr10 90511137 90527979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIPK,LIPN chr10 90511137 90527979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPK,LIPN chr10 90532620 94553632 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ACTA2,ANKRD1,ANKRD22,BTAF1,CH25H,CPEB3,FAS,FAS-AS1,FGFBP3,FLJ37201,HECTD2,HHEX,HTR7,IDE,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF11,KIF20B,LINC00502,LIPA,LIPM,LIPN,LOC100188947,LOC643529,MARCH5,MARK2P9,MIR107,MIR4679-1,MIR4679-2,NUDT9P1,PANK1,PCGF5,PPP1R3C,RPP30,SLC16A12,STAMBPL1,TNKS2 chr10 90535337 90536798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPN chr10 90547728 90579016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIPM chr10 90552467 90570238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIPM chr10 90552467 90570238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPM chr10 90557690 90589652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD22,LIPM chr10 90558035 90570238 Gain and loss Pancreatic cancer SNP array 17952125 LIPM chr10 90559662 90957411 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ACTA2,ANKRD22,FAS,FAS-AS1,LIPM,MIR4679-1,MIR4679-2,STAMBPL1 chr10 90569641 90601712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD22,LIPM chr10 90569641 90601712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD22,LIPM chr10 90572282 90601495 Deletion T-cell lymphomas Array-CGH 22341440 ANKRD22,LIPM chr10 90572304 90601496 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD22,LIPM chr10 90578581 90656013 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ANKRD22,LIPM,STAMBPL1 chr10 90580888 90861430 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ACTA2,ANKRD22,FAS,FAS-AS1,MIR4679-1,MIR4679-2,STAMBPL1 chr10 90626187 90627173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 90629603 90724890 Gain and loss Pancreatic cancer SNP array 17952125 ACTA2,STAMBPL1 chr10 90629995 90723050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTA2,STAMBPL1 chr10 90629995 90723050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTA2,STAMBPL1 chr10 90630005 90673224 Gain or loss Breast cancer - 20668451 STAMBPL1 chr10 90630005 90673224 Gain or loss Cancer - 20668451 STAMBPL1 chr10 90630005 90673224 Gain or loss Lung cancer - 20668451 STAMBPL1 chr10 90630005 90673224 Gain or loss Ovarian cancer - 20668451 STAMBPL1 chr10 90630005 90673224 Gain or loss Pancreas cancer - 20668451 STAMBPL1 chr10 90630005 90673224 Gain or loss Prostate cancer - 20668451 STAMBPL1 chr10 90651413 90673218 Deletion T-cell lymphomas Array-CGH 22341440 STAMBPL1 chr10 90682421 90689711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAMBPL1 chr10 90682574 90689711 Gain and loss Pancreatic cancer SNP array 17952125 STAMBPL1 chr10 90684811 90702491 Gain and loss Pancreatic cancer SNP array 17952125 ACTA2 chr10 90684814 90702509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTA2 chr10 90684814 90702509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTA2 chr10 90706817 93355595 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTA2,ANKRD1,CH25H,FAS,FAS-AS1,FLJ37201,HECTD2,HTR7,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,KIF20B,LINC00502,LIPA,LOC100188947,LOC643529,MIR107,MIR4679-1,MIR4679-2,NUDT9P1,PANK1,PCGF5,RPP30,SLC16A12 chr10 90739206 90765521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTA2,FAS,FAS-AS1 chr10 90739206 90765521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTA2,FAS,FAS-AS1 chr10 90740268 90765521 Gain and loss Pancreatic cancer SNP array 17952125 ACTA2,FAS,FAS-AS1 chr10 90740268 90765522 Deletion T-cell lymphomas Array-CGH 22341440 ACTA2,FAS,FAS-AS1 chr10 90784968 90793035 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 90798981 90799081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 90812302 90812402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 908204 908287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARP4B chr10 90825044 91007466 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CH25H,LIPA chr10 90856260 90856343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 90888781 90889195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 90930494 90938030 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 90932947 90938070 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 90934639 90935788 Copy number Type 2 diabetes ILLumia HumanHap316 BeadChip 21526130 NOT_FOUND chr10 90955366 90957051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 90955366 90957051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 90955674 90957051 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr10 90956211 90957029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 90963305 91001640 Copy number Normal Illumina Human610-Quad BeadChip 21660214 CH25H,LIPA chr10 90963306 91164294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CH25H,IFIT1,IFIT1B,IFIT2,IFIT3,LIPA chr10 90963306 91164294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CH25H,IFIT1,IFIT1B,IFIT2,IFIT3,LIPA chr10 90963308 91092448 Gain and loss Pancreatic cancer SNP array 17952125 CH25H,IFIT2,IFIT3,LIPA chr10 90963312 91001512 Deletion T-cell lymphomas Array-CGH 22341440 CH25H,LIPA chr10 91051692 91059013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 91051692 91059013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 91051783 91058661 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr10 91055697 91057112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 91077733 91090267 Gain and loss Pancreatic cancer SNP array 17952125 IFIT3 chr10 91077733 91090288 Deletion T-cell lymphomas Array-CGH 22341440 IFIT3 chr10 91077811 91090266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFIT3 chr10 91077811 91090266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFIT3 chr10 91112031 91113224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 91127793 91134939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 91127793 91134939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 91127793 91134942 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr10 91142301 91153724 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 IFIT1,IFIT1B chr10 91142301 91153724 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 IFIT1,IFIT1B chr10 91142302 91153722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFIT1,IFIT1B chr10 91142302 91153722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFIT1,IFIT1B chr10 91142386 91153590 Deletion T-cell lymphomas Array-CGH 22341440 IFIT1,IFIT1B chr10 91152016 91153449 Gain and loss Pancreatic cancer SNP array 17952125 IFIT1 chr10 91155743 91164580 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IFIT1 chr10 91164419 91170733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFIT1 chr10 91164419 91170733 Gain and loss Pancreatic cancer SNP array 17952125 IFIT1 chr10 91164419 91170733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFIT1 chr10 91180036 91285293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFIT5,SLC16A12 chr10 91180036 91285293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFIT5,SLC16A12 chr10 91180753 91285293 Deletion T-cell lymphomas Array-CGH 22341440 IFIT5,SLC16A12 chr10 91180753 91285293 Gain and loss Pancreatic cancer SNP array 17952125 IFIT5,SLC16A12 chr10 91192330 91192362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC16A12 chr10 91200052 91257298 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SLC16A12 chr10 91293831 91293914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC16A12 chr10 91332726 91395195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR107,PANK1 chr10 91332726 91395195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR107,PANK1 chr10 91332726 91395309 Gain and loss Pancreatic cancer SNP array 17952125 MIR107,PANK1 chr10 91332729 91395195 Deletion T-cell lymphomas Array-CGH 22341440 MIR107,PANK1 chr10 91342480 91342566 Gain and loss Pancreatic cancer SNP array 17952125 PANK1 chr10 91342480 91342566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PANK1 chr10 91342484 91342564 Gain and loss Pancreatic cancer SNP array 17952125 PANK1 chr10 91378244 91378339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PANK1 chr10 91420319 91420419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 9142618 9657021 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr10 91427615 91427714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91431791 91431880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91442390 91447665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 91443230 91443829 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 91451347 91524680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ37201,KIF20B chr10 91451347 91524680 Deletion T-cell lymphomas Array-CGH 22341440 FLJ37201,KIF20B chr10 91451347 91524680 Gain and loss Pancreatic cancer SNP array 17952125 FLJ37201,KIF20B chr10 91451347 91524680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ37201,KIF20B chr10 91516264 91516364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF20B chr10 91537365 91537700 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 91565712 91567557 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 91581493 91581587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91604725 91604825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91677089 91685378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 91687530 91713850 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 91703654 91727027 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 91717438 91717613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91717633 91717874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91727329 91731417 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 91728454 91728807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 91728454 91728807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 91728454 91728807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 91799892 91800201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 91804145 94160831 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD1,BTAF1,CPEB3,FGFBP3,HECTD2,HTR7,LINC00502,LOC100188947,MARCH5,NUDT9P1,PCGF5,PPP1R3C,RPP30,TNKS2 chr10 91846651 91846731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91857013 91863529 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 91859461 91859561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91871908 91872008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91913388 91913697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 919133 936429 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LARP4B chr10 91913436 91913697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 91913436 91913697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 9197837 9197932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91986317 91986417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 91988396 91992471 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 91988516 91992007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 92071073 92085799 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 92071073 92086175 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 92077648 92078281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 9209113 9426311 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 9209201 9335700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr10 92095731 92875749 LOH Normal High-resolution SNP genotyping 21211785 ANKRD1,HTR7,LINC00502,RPP30 chr10 92215065 92215165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92227496 92227585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92279429 92279481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 923197 928934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LARP4B chr10 92323708 92323808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 9234158 9234200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92430763 92430826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92443521 92443616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92446012 92446581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 92446012 92446581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 92451835 92455602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 92452695 92453356 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 92484837 92484922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92490558 92607651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HTR7 chr10 92490558 92607651 Gain and loss Pancreatic cancer SNP array 17952125 HTR7 chr10 92490558 92607651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR7 chr10 92530484 92530577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTR7 chr10 92557083 92557183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTR7 chr10 92597624 92597719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTR7 chr10 92607246 92608148 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HTR7 chr10 92618364 92618437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92621130 93432087 LOH Normal High-resolution SNP genotyping 21211785 ANKRD1,HECTD2,LINC00502,LOC100188947,NUDT9P1,PCGF5,PPP1R3C,RPP30 chr10 92621255 92651928 Gain and loss Pancreatic cancer SNP array 17952125 RPP30 chr10 92621453 92658292 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 RPP30 chr10 92621689 92655798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPP30 chr10 92621689 92655798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPP30 chr10 92629777 92629916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 92629778 92629874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 92629778 92629874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 92629779 92629884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 92661837 92671012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPP30 chr10 92661837 92671012 Gain and loss Pancreatic cancer SNP array 17952125 RPP30 chr10 92661837 92671012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPP30 chr10 92672468 92672572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD1 chr10 92672468 92672577 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD1 chr10 92672469 92672573 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD1 chr10 92718413 92718501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92794616 92794714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92802788 92803159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 92802788 92803159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 92805364 92805684 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00502 chr10 92855270 94861861 LOH Normal High-resolution SNP genotyping 21211785 BTAF1,CPEB3,CYP26A1,CYP26C1,EXOC6,FGFBP3,HECTD2,HHEX,IDE,KIF11,LOC100188947,MARCH5,MARK2P9,NUDT9P1,PCGF5,PPP1R3C,TNKS2 chr10 92877615 92877715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92882790 92882890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 92889837 92897030 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 92900000 94200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BTAF1,CPEB3,FGFBP3,HECTD2,LOC100188947,MARCH5,MARK2P9,NUDT9P1,PCGF5,PPP1R3C,TNKS2 chr10 92902342 92903086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 92902342 92903086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 92902364 92902726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 92912755 93034000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUDT9P1,PCGF5 chr10 92912755 93034000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUDT9P1,PCGF5 chr10 92912774 93030715 Gain and loss Pancreatic cancer SNP array 17952125 NUDT9P1,PCGF5 chr10 92915179 92923079 Loss Normal Birdsuite, version 1.5.2 22087296 PCGF5 chr10 92957401 93839028 LOH Normal High-resolution SNP genotyping 21211785 BTAF1,CPEB3,FGFBP3,HECTD2,LOC100188947,PCGF5,PPP1R3C,TNKS2 chr10 92959206 92959543 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCGF5 chr10 92964357 93839028 LOH Normal High-resolution SNP genotyping 21211785 BTAF1,CPEB3,FGFBP3,HECTD2,LOC100188947,PCGF5,PPP1R3C,TNKS2 chr10 92988999 92989149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCGF5 chr10 93011024 93032488 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PCGF5 chr10 93074670 95204987 LOH Normal High-resolution SNP genotyping 21211785 BTAF1,CPEB3,CYP26A1,CYP26C1,EXOC6,FGFBP3,HECTD2,HHEX,IDE,KIF11,LOC100188947,MARCH5,MARK2P9,MYOF,PPP1R3C,TNKS2 chr10 9311177 9342218 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 93118223 93118323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100188947 chr10 93146270 93179845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HECTD2,LOC100188947 chr10 93160075 93264500 Gain or loss Breast cancer - 20668451 HECTD2,LOC100188947 chr10 93160075 93264500 Gain or loss Cancer - 20668451 HECTD2,LOC100188947 chr10 93160075 93264500 Gain or loss Lung cancer - 20668451 HECTD2,LOC100188947 chr10 93160075 93264500 Gain or loss Ovarian cancer - 20668451 HECTD2,LOC100188947 chr10 93160075 93264500 Gain or loss Pancreas cancer - 20668451 HECTD2,LOC100188947 chr10 93160075 93264500 Gain or loss Prostate cancer - 20668451 HECTD2,LOC100188947 chr10 93160082 93264498 Gain and loss Pancreatic cancer SNP array 17952125 HECTD2,LOC100188947 chr10 93160082 93264566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HECTD2,LOC100188947 chr10 93160082 93264566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECTD2,LOC100188947 chr10 93193518 93201638 Loss Normal 244K array 17666407 HECTD2,LOC100188947 chr10 93269826 93269901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECTD2,LOC100188947 chr10 93294589 93294835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100188947 chr10 93346256 93346331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100188947 chr10 93378178 93382838 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 93378178 93382838 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 93378178 93382838 Gain or loss Cancer - 20668451 NOT_FOUND chr10 93378178 93382838 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 93378178 93382838 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 93378178 93382838 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 93378178 93382838 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 93378183 93382838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93378183 93382838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93378185 93382838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 93386090 93386185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 93416589 93417109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93416731 93417285 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 9342218 10302698 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 93489806 93523207 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 93515636 93516933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93515636 93516933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93540032 93557176 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 93548049 93615012 Gain and loss Pancreatic cancer SNP array 17952125 TNKS2 chr10 93548049 93615012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNKS2 chr10 93555783 93557233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93555783 93557233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93565684 93565784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNKS2 chr10 93616172 93661674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TNKS2 chr10 93621201 93626500 Deletion Glioma mate-paired sequence 20126413 TNKS2 chr10 93621936 93730409 Duplication Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V12 BeadChip 22016809 BTAF1,FGFBP3,TNKS2 chr10 93623316 93624543 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TNKS2 chr10 93623391 93624515 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TNKS2 chr10 93623729 93624635 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TNKS2 chr10 93651011 93651111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 93656324 93659238 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 93656326 93659220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93656326 93659220 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 93656326 93659220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 93673715 93780060 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 BTAF1 chr10 93673716 93780058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTAF1 chr10 93673716 93780058 Gain and loss Pancreatic cancer SNP array 17952125 BTAF1 chr10 93673716 93780058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTAF1 chr10 93721617 93721717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTAF1 chr10 93740000 95770000 Deletion Sezary syndrome Array-based CGH 18413736 BTAF1,CEP55,CPEB3,CYP26A1,CYP26C1,EXOC6,FRA10AC1,HHEX,IDE,KIF11,LGI1,MARCH5,MARK2P9,MYOF,O3FAR1,PDE6C,PIPSL,PLCE1,RBP4,SLC35G1 chr10 93798379 94040824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPEB3 chr10 93798379 94040824 Gain and loss Pancreatic cancer SNP array 17952125 CPEB3 chr10 93798379 94040824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB3 chr10 93807722 93807822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 93825973 93826102 Gain and loss Pancreatic cancer SNP array 17952125 CPEB3 chr10 93868392 93868901 Gain and loss Pancreatic cancer SNP array 17952125 CPEB3 chr10 93868392 93868901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB3 chr10 93886612 93888107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB3 chr10 93886674 93888043 Gain and loss Pancreatic cancer SNP array 17952125 CPEB3 chr10 93953966 93954043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB3 chr10 93966035 93966447 Gain and loss Pancreatic cancer SNP array 17952125 CPEB3 chr10 93966069 93966530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB3 chr10 94021884 94021988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB3 chr10 94021886 94021983 Gain and loss Pancreatic cancer SNP array 17952125 CPEB3 chr10 94021886 94021988 Gain and loss Pancreatic cancer SNP array 17952125 CPEB3 chr10 94040900 94103701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPEB3,MARCH5 chr10 94040900 94103701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB3,MARCH5 chr10 94040940 94103701 Gain and loss Pancreatic cancer SNP array 17952125 CPEB3,MARCH5 chr10 94084200 94084299 Gain and loss Pancreatic cancer SNP array 17952125 MARCH5 chr10 94084200 94084301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH5 chr10 94084201 94084300 Gain and loss Pancreatic cancer SNP array 17952125 MARCH5 chr10 94100000 97000000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 C10orf129,CEP55,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,EXOC6,FRA10AC1,HELLS,HHEX,IDE,KIF11,LGI1,LOC100128054,MARCH5,MARK2P9,MYOF,NOC3L,O3FAR1,PDE6C,PDLIM1,PIPSL,PLCE1,RBP4,SLC35G1,TBC1D12 chr10 94105187 94128443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MARCH5 chr10 94122601 94129500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr10 94124579 94127617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 94153458 94160827 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr10 94159804 95171689 LOH Normal High-resolution SNP genotyping 21211785 CYP26A1,CYP26C1,EXOC6,HHEX,IDE,KIF11,MARK2P9,MYOF chr10 94160831 95188142 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CYP26A1,CYP26C1,EXOC6,HHEX,IDE,KIF11,MARK2P9,MYOF chr10 94168404 94170612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 94190948 94191041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 94192885 94194314 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr10 94200000 98000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALDH18A1,BLNK,C10orf129,C10orf131,CC2D2B,CCNJ,CEP55,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,ENTPD1,EXOC6,FRA10AC1,HELLS,HHEX,IDE,KIF11,LGI1,LOC100128054,LOC728558,MIR3157,MYOF,NOC3L,O3FAR1,PDE6C,PDLIM1,PIPSL,PLCE1,RBP4,SLC35G1,SORBS1,TBC1D12,TCTN3,ZNF518A chr10 94200000 98000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALDH18A1,BLNK,C10orf129,C10orf131,CC2D2B,CCNJ,CEP55,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,ENTPD1,EXOC6,FRA10AC1,HELLS,HHEX,IDE,KIF11,LGI1,LOC100128054,LOC728558,MIR3157,MYOF,NOC3L,O3FAR1,PDE6C,PDLIM1,PIPSL,PLCE1,RBP4,SLC35G1,SORBS1,TBC1D12,TCTN3,ZNF518A chr10 94200000 99400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ALDH18A1,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,BLNK,C10orf12,C10orf129,C10orf131,C10orf62,CC2D2B,CCNJ,CEP55,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNTT,ENTPD1,EXOC6,EXOSC1,FRA10AC1,FRAT1,FRAT2,HELLS,HHEX,HOGA1,IDE,KIF11,LCOR,LGI1,LOC100128054,LOC100505540,LOC728558,MIR3157,MIR5692C2,MMS19,MORN4,MYOF,NOC3L,O3FAR1,OPALIN,PDE6C,PDLIM1,PGAM1,PIK3AP1,PIPSL,PLCE1,RBP4,RRP12,SLC35G1,SLIT1,SORBS1,TBC1D12,TCTN3,TLL2,TM9SF3,UBTD1,ZDHHC16,ZNF518A chr10 94201984 94323756 Gain and loss Pancreatic cancer SNP array 17952125 IDE chr10 94203579 94323832 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 IDE chr10 94203580 94323832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IDE chr10 94267846 96226181 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP55,CYP26A1,CYP26C1,EXOC6,FRA10AC1,HHEX,IDE,KIF11,LGI1,LOC100128054,MYOF,NOC3L,O3FAR1,PDE6C,PIPSL,PLCE1,RBP4,SLC35G1,TBC1D12 chr10 942704 134416288 Gain Acute lymphoblastic leukemia FISH 20724749 A1CF,ABCC2,ABI1,ABLIM1,ACADSB,ACBD5,ACBD7,ACSL5,ACTA2,ACTR1A,ACTR3BP5,ADAM12,ADAMTS14,ADARB2,ADARB2-AS1,ADD3,ADK,ADO,ADRA2A,ADRB1,AFAP1L2,AGAP11,AGAP4,AGAP5,AGAP6,AGAP7,AGAP8,AGAP9,AIFM2,AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,ALDH18A1,ALOX5,ANAPC16,ANK3,ANKRD1,ANKRD16,ANKRD2,ANKRD22,ANKRD26,ANKRD30A,ANXA11,ANXA2P3,ANXA7,ANXA8,ANXA8L1,ANXA8L2,AP3M1,APBB1IP,ARHGAP12,ARHGAP19,ARHGAP19-SLIT1,ARHGAP21,ARHGAP22,ARID5B,ARL3,ARL5B,ARMC3,ARMC4,ARMS2,AS3MT,ASAH2,ASAH2B,ASB13,ASCC1,ATAD1,ATE1,ATOH7,ATP5C1,ATRNL1,AVPI1,BAG3,BAMBI,BBIP1,BCCIP,BEND7,BICC1,BLNK,BLOC1S2,BMI1,BMPR1A,BMS1,BMS1P1,BMS1P2,BMS1P4,BMS1P5,BMS1P6,BNIP3,BTAF1,BTBD16,BTRC,BUB3,C10orf10,C10orf105,C10orf107,C10orf11,C10orf111,C10orf113,C10orf114,C10orf116,C10orf118,C10orf12,C10orf120,C10orf128,C10orf129,C10orf131,C10orf137,C10orf2,C10orf25,C10orf32,C10orf32-AS3MT,C10orf35,C10orf40,C10orf47,C10orf53,C10orf54,C10orf55,C10orf57,C10orf62,C10orf67,C10orf68,C10orf71,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,C10orf99,C1QL3,CACNB2,CACUL1,CALHM1,CALHM2,CALHM3,CALML3,CALML5,CAMK1D,CAMK2G,CASC2,CASP7,CC2D2B,CCAR1,CCDC147,CCDC172,CCDC3,CCDC6,CCDC7,CCNJ,CCNY,CDC123,CDH23,CDHR1,CDK1,CDNF,CELF2,CEP55,CFL1P1,CH25H,CHAT,CHCHD1,CHST15,CHST3,CHUK,CISD1,CLRN3,CNNM1,CNNM2,COL13A1,COL17A1,COMMD3,COMMD3-BMI1,COMTD1,COX15,CPEB3,CPN1,CPXM2,CREM,CRTAC1,CSGALNACT2,CSTF2T,CTAGE7P,CTBP2,CTNNA3,CTSL1P2,CUBN,CUEDC2,CUL2,CUTC,CUZD1,CWF19L1,CXCL12,CYP17A1,CYP26A1,CYP26C1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DCLRE1A,DCLRE1C,DDIT4,DDX21,DDX50,DHTKD1,DHX32,DKK1,DLG5,DMBT1,DNA2,DNAJB12,DNAJC1,DNAJC12,DNAJC9,DNAJC9-AS1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DRGX,DUPD1,DUSP13,DUSP5,DYDC1,DYDC2,EBF3,EBLN1,ECD,ECHDC3,EGR2,EIF3A,EIF4EBP2,EIF5AL1,ELOVL3,EMX2,EMX2OS,ENKUR,ENO4,ENTPD1,ENTPD7,EPC1,ERCC6,ERLIN1,EXOC6,EXOSC1,FAM107B,FAM133CP,FAM13C,FAM149B1,FAM160B1,FAM170B,FAM171A1,FAM175B,FAM178A,FAM188A,FAM190B,FAM196A,FAM204A,FAM208B,FAM213A,FAM21A,FAM21B,FAM21C,FAM22A,FAM22D,FAM24A,FAM24B,FAM24B-CUZD1,FAM25A,FAM25B,FAM25C,FAM25G,FAM35A,FAM35B,FAM35B2,FAM45A,FAM45B,FAM53B,FANK1,FAS,FAS-AS1,FBXL15,FBXO18,FBXW4,FGF8,FGFBP3,FGFR2,FLJ31813,FLJ37035,FLJ37201,FLJ41350,FLJ45983,FLJ46300,FLJ46361,FOXI2,FRA10AC1,FRAT1,FRAT2,FRMD4A,FRMPD2,FRMPD2P1,FUT11,FXYD4,FZD8,GAD2,GATA3,GBF1,GDF10,GDF2,GDI2,GFRA1,GHITM,GJD4,GLRX3,GLUD1,GLUD1P3,GLUD1P7,GOLGA7B,GOT1,GPAM,GPR158,GPR158-AS1,GPR26,GPRIN2,GRID1,GRID1-AS1,GRK5,GSTO1,GSTO2,GTPBP4,GUCY2GP,H2AFY2,HABP2,HECTD2,HELLS,HERC4,HHEX,HIF1AN,HK1,HKDC1,HMX2,HMX3,HNRNPA3P1,HNRNPF,HNRNPH3,HOGA1,HPS1,HPS6,HPSE2,HSD17B7P2,HSPA12A,HSPA14,HTR7,HTRA1,IDE,IDI1,IDI2,IDI2-AS1,IFIT1,IFIT1B,IFIT2,IFIT3,IFIT5,IKZF5,IL15RA,IL2RA,INA,INPP5A,INPP5F,IPMK,ITGA8,ITGB1,ITIH2,ITIH5,ITPRIP,JAKMIP3,JMJD1C,KAT6B,KAZALD1,KCNIP2,KCNK18,KCNMA1,KIAA0913,KIAA1217,KIAA1279,KIAA1462,KIAA1598,KIF11,KIF20B,KIF5B,KIN,KLF6,KLLN,LBX1,LCOR,LDB1,LDB3,LGI1,LHPP,LINC00200,LINC00202,LINC00263,LINC00264,LINC00502,LINC00619,LIPA,LIPF,LIPJ,LIPK,LIPM,LIPN,LOC100128054,LOC100128098,LOC100128292,LOC100128511,LOC100129055,LOC100129213,LOC100130539,LOC100130992,LOC100132987,LOC100169752,LOC100188947,LOC100192204,LOC100216001,LOC100288974,LOC100289509,LOC100419868,LOC100499489,LOC100505540,LOC100505583,LOC100505761,LOC100505839,LOC100505933,LOC100506733,LOC100506835,LOC100506939,LOC100507034,LOC100507127,LOC100507331,LOC100507605,LOC170425,LOC219347,LOC219731,LOC220906,LOC254312,LOC282980,LOC282997,LOC283033,LOC283038,LOC283050,LOC283070,LOC338579,LOC338588,LOC387647,LOC387723,LOC399708,LOC399715,LOC399744,LOC399753,LOC399815,LOC439949,LOC439950,LOC439990,LOC439994,LOC441666,LOC642361,LOC643529,LOC643650,LOC650623,LOC728190,LOC728218,LOC728407,LOC728558,LOC728643,LOC728978,LOC729020,LOC731789,LOC84856,LOC84989,LOXL4,LRIT1,LRIT2,LRRC18,LRRC20,LRRC27,LRRC37A6P,LRRTM3,LYZL1,LYZL2,LZTS2,M1,MAP3K8,MAPK8,MARCH5,MARCH8,MARK2P9,MARVELD1,MASTL,MAT1A,MBL1P,MBL2,MCM10,MCMBP,MCU,MEIG1,METTL10,MGEA5,MGMT,MICU1,MINPP1,MIR107,MIR1256,MIR1265,MIR1287,MIR1296,MIR1307,MIR146B,MIR1915,MIR2110,MIR3155A,MIR3155B,MIR3156-1,MIR3157,MIR3158-1,MIR3158-2,MIR346,MIR3663,MIR378C,MIR3924,MIR3941,MIR4294,MIR4295,MIR4296,MIR4297,MIR4480,MIR4482-1,MIR4483,MIR4484,MIR4675,MIR4676,MIR4678,MIR4679-1,MIR4679-2,MIR4680,MIR4681,MIR4682,MIR4683,MIR4685,MIR5100,MIR511-1,MIR511-2,MIR548AV,MIR5586,MIR5692C2,MIR5694,MIR603,MIR604,MIR605,MIR608,MIR609,MIR936,MIR938,MKI67,MKX,MLLT10,MMP21,MMRN2,MMS19,MORN4,MPP7,MRC1,MRPL43,MRPS16,MSMB,MSRB2,MSS51,MTPAP,MTRNR2L5,MTRNR2L7,MXI1,MYO3A,MYOF,MYOZ1,MYPN,NANOS1,NCOA4,NDST2,NDUFB8,NEBL,NET1,NEURL,NEUROG3,NFKB2,NHLRC2,NKX1-2,NKX2-3,NMT2,NOC3L,NODAL,NOLC1,NPFFR1,NPM3,NPS,NRAP,NRBF2,NRG3,NRP1,NSMCE4A,NSUN6,NT5C2,NUDT13,NUDT5,NUDT9P1,O3FAR1,OAT,OBFC1,OGDHL,OIT3,OLAH,OPALIN,OPN4,OPTN,OR13A1,OTUD1,P4HA1,PALD1,PANK1,PAPSS2,PARD3,PARG,PAX2,PBLD,PCBD1,PCDH15,PCGF5,PCGF6,PDCD11,PDCD4,PDE6C,PDLIM1,PDSS1,PDZD7,PDZD8,PFKFB3,PFKP,PGAM1,PGBD3,PHYH,PHYHIPL,PI4K2A,PIK3AP1,PIP4K2A,PIPSL,PITRM1,PITX3,PKD2L1,PLA2G12B,PLAC9,PLAU,PLCE1,PLEKHA1,PLEKHS1,PLXDC2,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,POLR3A,PPA1,PPAPDC1A,PPIF,PPP1R3C,PPP2R2D,PPP3CB,PPRC1,PPYR1,PRDX3,PRF1,PRKCQ,PRKG1,PRLHR,PRPF18,PRTFDC1,PSAP,PSD,PSTK,PTCHD3,PTEN,PTER,PTF1A,PTPLA,PTPN20A,PTPN20B,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RAB18,RASGEF1A,RASSF4,RBM17,RBM20,RBP3,RBP4,REEP3,RET,RGR,RGS10,RHOBTB1,RNLS,RNU6-53,RPL13AP6,RPP30,RPP38,RPS24,RRP12,RSU1,RSU1P2,RTKN2,RUFY2,SAMD8,SAR1A,SCD,SEC23IP,SEC24C,SEC31B,SEC61A2,SEMA4G,SEPHS1,SEPT7L,SFMBT2,SFR1,SFRP5,SFTA1P,SFTPA1,SFTPA2,SFTPD,SFXN2,SFXN3,SFXN4,SGMS1,SGPL1,SH2D4B,SH3PXD2A,SHOC2,SIRT1,SKIDA1,SLC16A12,SLC16A9,SLC18A2,SLC18A3,SLC25A16,SLC25A28,SLC29A3,SLC35G1,SLC39A12,SLIT1,SLK,SMC3,SMNDC1,SNCG,SNORA12,SNORA19,SNORD98,SORBS1,SORCS1,SORCS3,SPAG6,SPOCK2,SRGN,ST8SIA6,STAM,STAMBPL1,STK32C,STOX1,SUFU,SUPV3L1,SUV39H2,SVIL,SYNPO2L,SYT15,TACC2,TACR2,TAF3,TAF5,TAKR,TBATA,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TET1,TEX36,TFAM,THNSL1,TIAL1,TIMM23,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TMEM236,TMEM26,TMEM72,TMEM72-AS1,TNKS2,TRDMT1,TRIM8,TRUB1,TSPAN14,TSPAN15,TTC18,TUBAL3,TYSND1,UBE2D1,UBTD1,UCMA,UCN3,UNC5B,UPF2,UROS,USMG5,USP54,USP6NL,VAX1,VCL,VDAC2,VIM,VPS26A,VSTM4,VTI1A,VWA2,WAC,WAPAL,WBP1L,WDFY4,WDR11,WDR11-AS1,WDR37,WDR96,WNT8B,XPNPEP1,YME1L1,ZCCHC24,ZDHHC16,ZDHHC6,ZEB1,ZEB1-AS1,ZFAND4,ZFYVE27,ZMIZ1,ZNF22,ZNF239,ZNF248,ZNF25,ZNF32,ZNF32-AS1,ZNF32-AS2,ZNF32-AS3,ZNF33A,ZNF33B,ZNF365,ZNF37A,ZNF37BP,ZNF438,ZNF485,ZNF487P,ZNF488,ZNF503,ZNF503-AS1,ZNF503-AS2,ZNF518A,ZRANB1,ZWINT chr10 9428100 9462817 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr10 94342971 94405130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF11 chr10 94342971 94405130 Gain and loss Pancreatic cancer SNP array 17952125 KIF11 chr10 94342971 94405130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF11 chr10 94346589 94347024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 94418509 94419480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 94418509 94419480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 94423427 94425761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 94439661 94445386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 94439661 94445386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 94439690 94445383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 9445041 9445141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 94460236 94460345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 94460238 94460345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 94460240 94460345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 94489824 95241462 LOH Normal High-resolution SNP genotyping 21211785 CYP26A1,CYP26C1,EXOC6,MYOF chr10 94492471 95241462 LOH Normal High-resolution SNP genotyping 21211785 CYP26A1,CYP26C1,EXOC6,MYOF chr10 94550270 95056976 LOH Normal High-resolution SNP genotyping 21211785 CYP26A1,CYP26C1,EXOC6 chr10 94559734 94559834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 94561827 95148653 LOH Normal High-resolution SNP genotyping 21211785 CYP26A1,CYP26C1,EXOC6,MYOF chr10 94571343 94571481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 94584450 94809241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOC6 chr10 94584450 94809241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC6 chr10 94598249 94809240 Gain and loss Pancreatic cancer SNP array 17952125 EXOC6 chr10 94627829 94628026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC6 chr10 94671949 94672044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6 chr10 9468325 9468425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 94717019 94717119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6 chr10 9474648 9474748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 9474850 9475085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 9476197 9476258 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr10 94766105 94766155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6 chr10 9478215 9478382 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 94784268 94792017 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EXOC6 chr10 94810001 94825000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP26C1,EXOC6 chr10 94810555 94819283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOC6 chr10 94810555 94819283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC6 chr10 94811011 94818444 Gain and loss Pancreatic cancer SNP array 17952125 EXOC6 chr10 94823221 94827631 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CYP26C1 chr10 94823222 94827637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP26C1 chr10 94823222 94827637 Gain and loss Pancreatic cancer SNP array 17952125 CYP26C1 chr10 94823222 94827637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP26C1 chr10 94856619 94857130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 9489091 9490256 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 9489451 9490222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 94956604 94959374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 94957624 94959302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 95031822 95035787 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 95031822 95035787 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr10 95033754 95034305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95033754 95034308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 95052937 95053021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 95052937 95053021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95052937 95053036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95056177 95232064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYOF chr10 95056177 95232064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYOF chr10 95056177 96412681 Gain and loss Pancreatic cancer SNP array 17952125 CEP55,FRA10AC1,HELLS,LGI1,LOC100128054,MYOF,NOC3L,O3FAR1,PDE6C,PIPSL,PLCE1,RBP4,SLC35G1,TBC1D12 chr10 95065857 95100861 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYOF chr10 95076262 95126236 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYOF chr10 95096222 95096310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYOF chr10 95103364 95126236 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYOF chr10 9510762 9510989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 95108421 95126236 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYOF chr10 9510982 9511181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 95168034 95253509 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYOF chr10 95171689 95859352 LOH Normal High-resolution SNP genotyping 21211785 CEP55,FRA10AC1,LGI1,MYOF,O3FAR1,PDE6C,PIPSL,PLCE1,RBP4,SLC35G1 chr10 95174624 95252486 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 MYOF chr10 95222903 95254497 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYOF chr10 95230688 95260449 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CEP55,MYOF chr10 95233798 95258619 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CEP55,MYOF chr10 95238020 95252487 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYOF chr10 95240147 95254497 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYOF chr10 95243220 95304377 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 CEP55 chr10 95246358 95278839 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CEP55 chr10 95246379 95278837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP55 chr10 95246379 95278837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP55 chr10 95246386 95278837 Gain and loss Pancreatic cancer SNP array 17952125 CEP55 chr10 95260315 95260427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP55 chr10 95260336 95260427 Gain and loss Pancreatic cancer SNP array 17952125 CEP55 chr10 95312530 95312562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 95316412 95337356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 O3FAR1 chr10 95316412 95337356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 O3FAR1 chr10 95316468 95337356 Gain and loss Pancreatic cancer SNP array 17952125 O3FAR1 chr10 95332078 95332178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 O3FAR1 chr10 95341434 95351491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 O3FAR1 chr10 95341434 95351491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 O3FAR1 chr10 95341591 95350987 Gain and loss Pancreatic cancer SNP array 17952125 O3FAR1 chr10 95358333 95358446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBP4 chr10 95362335 95415417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE6C chr10 95362335 95415417 Gain and loss Pancreatic cancer SNP array 17952125 PDE6C chr10 95362335 95415417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE6C chr10 95364459 95967765 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FRA10AC1,LGI1,PDE6C,PIPSL,PLCE1,SLC35G1 chr10 95402743 95402856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE6C chr10 95418318 95452903 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 FRA10AC1,PDE6C chr10 95418319 95452319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRA10AC1,PDE6C chr10 95418319 95452319 Gain and loss Pancreatic cancer SNP array 17952125 FRA10AC1,PDE6C chr10 95418319 95452319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRA10AC1,PDE6C chr10 95419628 95419717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE6C chr10 95441763 95441863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRA10AC1 chr10 95503398 95516158 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr10 95507632 95547903 Gain and loss Pancreatic cancer SNP array 17952125 LGI1 chr10 95507632 95547904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LGI1 chr10 95507632 95547904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGI1 chr10 95533043 95548576 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LGI1 chr10 95533043 96748813 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C9,HELLS,LGI1,LOC100128054,NOC3L,PIPSL,PLCE1,SLC35G1,TBC1D12 chr10 95533601 95538400 Deletion Glioma mate-paired sequence 20126413 LGI1 chr10 95535368 95541692 Copy number Alcoholism Illumina Human Hap669W-Quad BeadChip 21790672 LGI1 chr10 95535368 95541692 Copy number Normal - 21790672 LGI1 chr10 95535466 95536458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LGI1 chr10 95563669 95563749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 95577713 95577813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 9559822 9560127 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 95631040 95631685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95643720 95652480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95643720 95652480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 95643720 95652480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95671679 95705069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 95704168 95736787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIPSL chr10 95707938 95711287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95707938 95711287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95709662 95711247 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 95743736 96078136 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128054,PLCE1 chr10 95743736 96078139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128054,PLCE1 chr10 95743736 96078139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128054,PLCE1 chr10 95774623 96818142 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95796783 95796872 Gain and loss Pancreatic cancer SNP array 17952125 PLCE1 chr10 95796789 95796872 Gain and loss Pancreatic cancer SNP array 17952125 PLCE1 chr10 95822244 95822344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCE1 chr10 95843672 95843987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCE1 chr10 95856717 95856761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCE1 chr10 95872527 95887083 Substitutions and indels small cell lung cancer array-CGH 20016488 PLCE1 chr10 95887495 95889247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCE1 chr10 95892087 135374737 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCC2,ABLIM1,ACADSB,ACSL5,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ALDH18A1,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BNIP3,BTBD16,BTRC,BUB3,C10orf118,C10orf12,C10orf120,C10orf129,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FBXL15,FBXW4,FGF8,FGFR2,FLJ37035,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GLRX3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HELLS,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTRA1,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KNDC1,LBX1,LCOR,LDB1,LHPP,LINC00263,LOC100128054,LOC100169752,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LOC728558,LOC729020,LOXL4,LRRC27,LZTS2,MARVELD1,MCMBP,METTL10,MGEA5,MGMT,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMS19,MORN4,MRPL43,MTG1,MXI1,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOC3L,NOLC1,NPM3,NPS,NRAP,NSMCE4A,NT5C2,OAT,OBFC1,OPALIN,PAOX,PAX2,PCGF6,PDCD11,PDCD4,PDLIM1,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,PLCE1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH3PXD2A,SHOC2,SLC18A2,SLC25A28,SLIT1,SLK,SMC3,SMNDC1,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,STK32C,SUFU,SYCE1,TACC2,TAF5,TBC1D12,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,TRUB1,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZNF518A,ZRANB1 chr10 95905386 95905492 Gain and loss Pancreatic cancer SNP array 17952125 PLCE1 chr10 95905386 95905492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCE1 chr10 95916933 95917033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCE1 chr10 959234 959312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 959234 959312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 95937966 96610818 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95957276 96610818 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95957276 96614565 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95957276 96790735 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95960794 96842277 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95960794 97108836 LOH Normal High-resolution SNP genotyping 21211785 C10orf129,CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,LOC100128054,NOC3L,PDLIM1,PLCE1,SORBS1,TBC1D12 chr10 95961383 96745724 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95961383 96748813 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95961383 96842277 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95966961 96692182 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95988666 96572122 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 95988666 96586848 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 96000712 96761550 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 96032211 96842277 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 96034884 96610818 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 96034884 96842277 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,LOC100128054,NOC3L,PLCE1,TBC1D12 chr10 96082979 96112673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOC3L,PLCE1 chr10 96082979 96112673 Gain and loss Pancreatic cancer SNP array 17952125 NOC3L,PLCE1 chr10 96082979 96112673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOC3L,PLCE1 chr10 96098900 96842277 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,NOC3L,TBC1D12 chr10 96098900 96842314 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,NOC3L,TBC1D12 chr10 96120333 96761550 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C9,HELLS,NOC3L,TBC1D12 chr10 96124874 96748346 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C9,HELLS,TBC1D12 chr10 96152176 96286079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D12 chr10 96152176 96286079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D12 chr10 96152342 96283858 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D12 chr10 96162195 97026516 LOH Normal High-resolution SNP genotyping 21211785 C10orf129,CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,PDLIM1,TBC1D12 chr10 96211955 96212055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D12 chr10 96229458 96234719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 TBC1D12 chr10 96231023 96231191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D12 chr10 96234719 96750400 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C9,HELLS,TBC1D12 chr10 96241532 96241707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D12 chr10 96281541 96842277 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,TBC1D12 chr10 96284932 96842277 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS,TBC1D12 chr10 96295423 96295523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D12 chr10 96295564 96363652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HELLS,TBC1D12 chr10 96295564 96363652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HELLS,TBC1D12 chr10 96295669 96359583 Gain and loss Pancreatic cancer SNP array 17952125 HELLS,TBC1D12 chr10 96356203 96888754 LOH Normal High-resolution SNP genotyping 21211785 CYP2C18,CYP2C19,CYP2C8,CYP2C9,HELLS chr10 96369043 96959313 LOH Normal High-resolution SNP genotyping 21211785 C10orf129,CYP2C18,CYP2C19,CYP2C8,CYP2C9 chr10 96377118 97026516 LOH Normal High-resolution SNP genotyping 21211785 C10orf129,CYP2C18,CYP2C19,CYP2C8,CYP2C9,PDLIM1 chr10 96395286 96504069 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CYP2C18 chr10 96396111 96397743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 96404798 96436667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 96433368 96485514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2C18 chr10 96433368 96485514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2C18 chr10 96433368 96485935 Gain and loss Pancreatic cancer SNP array 17952125 CYP2C18 chr10 96478502 96480380 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 CYP2C18 chr10 96480000 100810000 Loss Acute lymphoblastic leukemia - 21339820 ALDH18A1,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,AVPI1,BLNK,C10orf12,C10orf129,C10orf131,C10orf62,CC2D2B,CCNJ,CRTAC1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNTT,ENTPD1,EXOSC1,FRAT1,FRAT2,GOLGA7B,HOGA1,HPS1,HPSE2,LCOR,LOC100505540,LOC728558,LOXL4,MARVELD1,MIR1287,MIR3157,MIR4685,MIR5692C2,MMS19,MORN4,OPALIN,PDLIM1,PGAM1,PI4K2A,PIK3AP1,PYROXD2,R3HCC1L,RRP12,SFRP5,SLIT1,SORBS1,TCTN3,TLL2,TM9SF3,UBTD1,ZDHHC16,ZFYVE27,ZNF518A chr10 96486000 100815000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ALDH18A1,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,AVPI1,BLNK,C10orf12,C10orf129,C10orf131,C10orf62,CC2D2B,CCNJ,CRTAC1,CYP2C18,CYP2C19,CYP2C8,CYP2C9,DNTT,ENTPD1,EXOSC1,FRAT1,FRAT2,GOLGA7B,HOGA1,HPS1,HPSE2,LCOR,LOC100505540,LOC728558,LOXL4,MARVELD1,MIR1287,MIR3157,MIR4685,MIR5692C2,MMS19,MORN4,OPALIN,PDLIM1,PGAM1,PI4K2A,PIK3AP1,PYROXD2,R3HCC1L,RRP12,SFRP5,SLIT1,SORBS1,TCTN3,TLL2,TM9SF3,UBTD1,ZDHHC16,ZFYVE27,ZNF518A chr10 96497202 96536412 Deletion Oligozoospermia Array-CGH 20877625 CYP2C19 chr10 96512371 96603007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2C19 chr10 96512371 96603007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2C19 chr10 96512453 96602661 Gain and loss Pancreatic cancer SNP array 17952125 CYP2C19 chr10 96523903 96524380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2C19 chr10 96594464 96601199 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CYP2C19 chr10 96602082 96602168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP2C19 chr10 96610923 96611028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP2C19 chr10 96611026 96611126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP2C19 chr10 96611084 96611207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP2C19 chr10 96614733 96614829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 96615599 96622876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 96632301 96633090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 96688405 96739133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2C9 chr10 96688405 96739133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2C9 chr10 96688430 96739137 Gain and loss Pancreatic cancer SNP array 17952125 CYP2C9 chr10 96690000 96690868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 96724250 96758557 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP2C9 chr10 96756873 96757303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 96764013 96764113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 96781387 96781795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 96786518 96819244 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 CYP2C8 chr10 96786519 96819244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2C8 chr10 96786519 96819244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2C8 chr10 96786526 96819244 Gain and loss Pancreatic cancer SNP array 17952125 CYP2C8 chr10 96842277 96842597 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 96842277 96843063 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 96842277 96843063 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 96842314 96842597 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 96842314 96842771 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 96842314 96842771 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 96842314 96843063 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr10 96845996 96986033 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C10orf129 chr10 96847884 96871930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 96855071 96866067 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 96855174 96872492 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr10 96855280 96865691 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr10 96857182 96864933 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr10 96857183 96864932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 96896282 97096019 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C10orf129,PDLIM1,SORBS1 chr10 96896282 98171727 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDH18A1,BLNK,C10orf129,C10orf131,CC2D2B,CCNJ,DNTT,ENTPD1,LOC728558,MIR3157,OPALIN,PDLIM1,SORBS1,TCTN3,TLL2,ZNF518A chr10 96933400 96933964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 96943946 96978675 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 C10orf129 chr10 96943947 96976152 Gain and loss Pancreatic cancer SNP array 17952125 C10orf129 chr10 96943947 96978671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf129 chr10 96943947 96978671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf129 chr10 96944267 96944885 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr10 96987319 97040771 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C10orf129,PDLIM1 chr10 96987319 97040771 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 C10orf129,PDLIM1 chr10 96987319 97040771 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 C10orf129,PDLIM1 chr10 96987324 97040771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C10orf129,PDLIM1 chr10 96987324 97040771 Gain and loss Pancreatic cancer SNP array 17952125 C10orf129,PDLIM1 chr10 96987324 97040771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf129,PDLIM1 chr10 97000000 105800000 Amplification Colorectal cancer PCR 16912164 ABCC2,ACTR1A,ALDH18A1,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,AVPI1,BLNK,BLOC1S2,BTRC,C10orf12,C10orf131,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CC2D2B,CCNJ,CHUK,CNNM1,CNNM2,COL17A1,COX15,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD1,ENTPD7,ERLIN1,EXOSC1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,FRAT1,FRAT2,GBF1,GOLGA7B,GOT1,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,INA,KAZALD1,KCNIP2,LBX1,LCOR,LDB1,LINC00263,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC728558,LOC729020,LOXL4,LZTS2,MARVELD1,MGEA5,MIR1287,MIR1307,MIR146B,MIR3157,MIR3158-1,MIR3158-2,MIR4685,MIR5692C2,MIR608,MMS19,MORN4,MRPL43,NDUFB8,NEURL,NFKB2,NKX2-3,NOLC1,NPM3,NT5C2,OBFC1,OPALIN,PAX2,PCGF6,PDCD11,PDLIM1,PDZD7,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,POLL,PPRC1,PSD,PYROXD2,R3HCC1L,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC25A28,SLIT1,SLK,SNORA12,SORBS1,SUFU,TAF5,TCTN3,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,UBTD1,USMG5,WBP1L,WNT8B,ZDHHC16,ZFYVE27,ZNF518A chr10 97000000 99300000 Deletion Lung cancer Relied on a multipoint score function 16773561 ALDH18A1,ARHGAP19,ARHGAP19-SLIT1,BLNK,C10orf12,C10orf131,CC2D2B,CCNJ,DNTT,ENTPD1,EXOSC1,FRAT1,FRAT2,LCOR,LOC100505540,LOC728558,MIR3157,MMS19,OPALIN,PDLIM1,PGAM1,PIK3AP1,RRP12,SLIT1,SORBS1,TCTN3,TLL2,TM9SF3,UBTD1,ZDHHC16,ZNF518A chr10 97028548 97028648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDLIM1 chr10 97040170 97040270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDLIM1 chr10 97046858 99218181 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALDH18A1,ARHGAP19,ARHGAP19-SLIT1,BLNK,C10orf12,C10orf131,CC2D2B,CCNJ,DNTT,ENTPD1,EXOSC1,FRAT1,FRAT2,LCOR,LOC100505540,LOC728558,MIR3157,MMS19,OPALIN,PDLIM1,PGAM1,PIK3AP1,RRP12,SLIT1,SORBS1,TCTN3,TLL2,TM9SF3,ZDHHC16,ZNF518A chr10 97061518 97311161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORBS1 chr10 97061518 97311161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS1 chr10 97061521 97311125 Gain and loss Pancreatic cancer SNP array 17952125 SORBS1 chr10 97080158 97080231 Gain and loss Pancreatic cancer SNP array 17952125 SORBS1 chr10 97080158 97080231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS1 chr10 97095565 97375482 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDH18A1,SORBS1 chr10 97104693 97106993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS1 chr10 97127495 97127595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS1 chr10 97141957 97142039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SORBS1 chr10 97141959 97142039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SORBS1 chr10 97191846 97191946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS1 chr10 97192527 97192627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS1 chr10 97197045 97198016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SORBS1 chr10 97212699 97244295 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SORBS1 chr10 97216467 97734121 LOH Normal High-resolution SNP genotyping 21211785 ALDH18A1,C10orf131,ENTPD1,LOC728558,SORBS1,TCTN3 chr10 97230090 135374737 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCC2,ABLIM1,ACADSB,ACSL5,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ALDH18A1,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BNIP3,BTBD16,BTRC,BUB3,C10orf118,C10orf12,C10orf120,C10orf131,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CC2D2B,CCDC147,CCDC172,CCNJ,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD1,ENTPD7,ERLIN1,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FBXL15,FBXW4,FGF8,FGFR2,FLJ37035,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GLRX3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTRA1,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KNDC1,LBX1,LCOR,LDB1,LHPP,LINC00263,LOC100169752,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LOC728558,LOC729020,LOXL4,LRRC27,LZTS2,MARVELD1,MCMBP,METTL10,MGEA5,MGMT,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3157,MIR3158-1,MIR3158-2,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMS19,MORN4,MRPL43,MTG1,MXI1,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOLC1,NPM3,NPS,NRAP,NSMCE4A,NT5C2,OAT,OBFC1,OPALIN,PAOX,PAX2,PCGF6,PDCD11,PDCD4,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH3PXD2A,SHOC2,SLC18A2,SLC25A28,SLIT1,SLK,SMC3,SMNDC1,SNORA12,SNORA19,SORBS1,SORCS1,SORCS3,SPRN,STK32C,SUFU,SYCE1,TACC2,TAF5,TCERG1L,TCF7L2,TCTN3,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,TRUB1,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZNF518A,ZRANB1 chr10 97309208 97980561 LOH Normal High-resolution SNP genotyping 21211785 ALDH18A1,BLNK,C10orf131,CC2D2B,CCNJ,ENTPD1,LOC728558,MIR3157,SORBS1,TCTN3,ZNF518A chr10 97333723 97333797 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 97333723 97333797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 97344345 97345033 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 97344345 97345119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 97355677 97406557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH18A1 chr10 97355677 97406557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH18A1 chr10 97355692 97406372 Gain and loss Pancreatic cancer SNP array 17952125 ALDH18A1 chr10 97370765 97370865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALDH18A1 chr10 97385008 98778082 LOH Normal High-resolution SNP genotyping 21211785 ALDH18A1,BLNK,C10orf12,C10orf131,CC2D2B,CCNJ,DNTT,ENTPD1,LCOR,LOC728558,MIR3157,OPALIN,PIK3AP1,SLIT1,TCTN3,TLL2,TM9SF3,ZNF518A chr10 97385008 98781279 LOH Normal High-resolution SNP genotyping 21211785 ALDH18A1,BLNK,C10orf12,C10orf131,CC2D2B,CCNJ,DNTT,ENTPD1,LCOR,LOC728558,MIR3157,OPALIN,PIK3AP1,SLIT1,TCTN3,TLL2,TM9SF3,ZNF518A chr10 97413148 97443890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH18A1,TCTN3 chr10 97413148 97443890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH18A1,TCTN3 chr10 97413166 97443890 Gain and loss Pancreatic cancer SNP array 17952125 ALDH18A1,TCTN3 chr10 97444260 97467501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCTN3 chr10 97461526 97627013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTPD1,LOC728558 chr10 97461526 97627013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTPD1,LOC728558 chr10 97467511 97467897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 97489425 97489525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENTPD1 chr10 97505906 97616454 Gain and loss Pancreatic cancer SNP array 17952125 ENTPD1,LOC728558 chr10 97526453 97526553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENTPD1,LOC728558 chr10 97536626 97569761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENTPD1,LOC728558 chr10 9755471 9755571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 97583165 97583265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENTPD1,LOC728558 chr10 97624368 97624835 Gain and loss Pancreatic cancer SNP array 17952125 ENTPD1,LOC728558 chr10 97633112 97901015 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 C10orf131,CC2D2B,CCNJ,ENTPD1,LOC728558,MIR3157,ZNF518A chr10 97657655 97783497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C10orf131,CC2D2B,LOC728558 chr10 97664195 97664276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC728558 chr10 97668377 97668536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf131,LOC728558 chr10 97668432 97668532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C10orf131,LOC728558 chr10 97671763 97688675 Gain and loss Pancreatic cancer SNP array 17952125 C10orf131,LOC728558 chr10 976842 1021352 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 97723776 97782422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CC2D2B,LOC728558 chr10 97723872 97733694 Gain and loss Pancreatic cancer SNP array 17952125 LOC728558 chr10 97749525 97749990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728558 chr10 97749859 97782430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CC2D2B,LOC728558 chr10 97749859 97782430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CC2D2B,LOC728558 chr10 97781751 98274884 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BLNK,CC2D2B,CCNJ,DNTT,LOC728558,MIR3157,OPALIN,TLL2,ZNF518A chr10 97791972 97792072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CC2D2B,LOC728558 chr10 97793141 97810612 Gain and loss Pancreatic cancer SNP array 17952125 CCNJ,LOC728558 chr10 97793141 97810613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNJ,LOC728558 chr10 97793141 97810613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNJ,LOC728558 chr10 97862494 97862598 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 97862496 97862598 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 97862498 97862598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 97879000 98057000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 BLNK,ZNF518A chr10 97879461 97913507 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ZNF518A chr10 97879646 97913507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF518A chr10 97879646 97913507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF518A chr10 97906067 97910520 Gain and loss Pancreatic cancer SNP array 17952125 ZNF518A chr10 97939112 97939965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 97941453 98021316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLNK chr10 97941453 98021316 Gain and loss Pancreatic cancer SNP array 17952125 BLNK chr10 97941453 98021316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLNK chr10 97970511 97970611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BLNK chr10 9798652 9798699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 98000000 105700000 Copy number Autosomal dominant partial epilepsy - 18472482 ABCC2,ACTR1A,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,AVPI1,BLNK,BLOC1S2,BTRC,C10orf12,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CHUK,CNNM1,CNNM2,COX15,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD7,ERLIN1,EXOSC1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,FRAT1,FRAT2,GBF1,GOLGA7B,GOT1,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,INA,KAZALD1,KCNIP2,LBX1,LCOR,LDB1,LINC00263,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC729020,LOXL4,LZTS2,MARVELD1,MGEA5,MIR1287,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4685,MIR5692C2,MIR608,MMS19,MORN4,MRPL43,NDUFB8,NEURL,NFKB2,NKX2-3,NOLC1,NPM3,NT5C2,OBFC1,OPALIN,PAX2,PCGF6,PDCD11,PDZD7,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,POLL,PPRC1,PSD,PYROXD2,R3HCC1L,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC25A28,SLIT1,SNORA12,SUFU,TAF5,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,UBTD1,USMG5,WBP1L,WNT8B,ZDHHC16,ZFYVE27 chr10 98000000 105700000 Copy number Breast cancer - 16397240 ABCC2,ACTR1A,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,AVPI1,BLNK,BLOC1S2,BTRC,C10orf12,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CHUK,CNNM1,CNNM2,COX15,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD7,ERLIN1,EXOSC1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,FRAT1,FRAT2,GBF1,GOLGA7B,GOT1,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,INA,KAZALD1,KCNIP2,LBX1,LCOR,LDB1,LINC00263,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC729020,LOXL4,LZTS2,MARVELD1,MGEA5,MIR1287,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4685,MIR5692C2,MIR608,MMS19,MORN4,MRPL43,NDUFB8,NEURL,NFKB2,NKX2-3,NOLC1,NPM3,NT5C2,OBFC1,OPALIN,PAX2,PCGF6,PDCD11,PDZD7,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,POLL,PPRC1,PSD,PYROXD2,R3HCC1L,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC25A28,SLIT1,SNORA12,SUFU,TAF5,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,UBTD1,USMG5,WBP1L,WNT8B,ZDHHC16,ZFYVE27 chr10 98000000 105700000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCC2,ACTR1A,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,AVPI1,BLNK,BLOC1S2,BTRC,C10orf12,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CHUK,CNNM1,CNNM2,COX15,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD7,ERLIN1,EXOSC1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,FRAT1,FRAT2,GBF1,GOLGA7B,GOT1,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,INA,KAZALD1,KCNIP2,LBX1,LCOR,LDB1,LINC00263,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC729020,LOXL4,LZTS2,MARVELD1,MGEA5,MIR1287,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4685,MIR5692C2,MIR608,MMS19,MORN4,MRPL43,NDUFB8,NEURL,NFKB2,NKX2-3,NOLC1,NPM3,NT5C2,OBFC1,OPALIN,PAX2,PCGF6,PDCD11,PDZD7,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,POLL,PPRC1,PSD,PYROXD2,R3HCC1L,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC25A28,SLIT1,SNORA12,SUFU,TAF5,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,UBTD1,USMG5,WBP1L,WNT8B,ZDHHC16,ZFYVE27 chr10 98000000 105700000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ABCC2,ACTR1A,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,AVPI1,BLNK,BLOC1S2,BTRC,C10orf12,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CHUK,CNNM1,CNNM2,COX15,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD7,ERLIN1,EXOSC1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,FRAT1,FRAT2,GBF1,GOLGA7B,GOT1,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,INA,KAZALD1,KCNIP2,LBX1,LCOR,LDB1,LINC00263,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC729020,LOXL4,LZTS2,MARVELD1,MGEA5,MIR1287,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4685,MIR5692C2,MIR608,MMS19,MORN4,MRPL43,NDUFB8,NEURL,NFKB2,NKX2-3,NOLC1,NPM3,NT5C2,OBFC1,OPALIN,PAX2,PCGF6,PDCD11,PDZD7,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,POLL,PPRC1,PSD,PYROXD2,R3HCC1L,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC25A28,SLIT1,SNORA12,SUFU,TAF5,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,UBTD1,USMG5,WBP1L,WNT8B,ZDHHC16,ZFYVE27 chr10 98000000 105700000 Loss Myxofibrosarcoma Array CGH 16751306 ABCC2,ACTR1A,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,AVPI1,BLNK,BLOC1S2,BTRC,C10orf12,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CHUK,CNNM1,CNNM2,COX15,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,DNMBP,DNMBP-AS1,DNTT,DPCD,ELOVL3,ENTPD7,ERLIN1,EXOSC1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,FRAT1,FRAT2,GBF1,GOLGA7B,GOT1,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,INA,KAZALD1,KCNIP2,LBX1,LCOR,LDB1,LINC00263,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC729020,LOXL4,LZTS2,MARVELD1,MGEA5,MIR1287,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4685,MIR5692C2,MIR608,MMS19,MORN4,MRPL43,NDUFB8,NEURL,NFKB2,NKX2-3,NOLC1,NPM3,NT5C2,OBFC1,OPALIN,PAX2,PCGF6,PDCD11,PDZD7,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,POLL,PPRC1,PSD,PYROXD2,R3HCC1L,RRP12,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC25A28,SLIT1,SNORA12,SUFU,TAF5,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,UBTD1,USMG5,WBP1L,WNT8B,ZDHHC16,ZFYVE27 chr10 98000000 119100000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ABCC2,ABLIM1,ACSL5,ACTR1A,ADD3,ADRA2A,ADRB1,AFAP1L2,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,AS3MT,ATRNL1,AVPI1,BBIP1,BLNK,BLOC1S2,BTRC,C10orf118,C10orf12,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf95,CALHM1,CALHM2,CALHM3,CASP7,CCDC147,CCDC172,CHUK,CNNM1,CNNM2,COL17A1,COX15,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,DCLRE1A,DNMBP,DNMBP-AS1,DNTT,DPCD,DUSP5,ELOVL3,ENO4,ENTPD7,ERLIN1,EXOSC1,FAM160B1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,FRAT1,FRAT2,GBF1,GFRA1,GOLGA7B,GOT1,GPAM,GSTO1,GSTO2,GUCY2GP,HABP2,HIF1AN,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,INA,ITPRIP,KAZALD1,KCNIP2,KCNK18,KIAA1598,LBX1,LCOR,LDB1,LINC00263,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC729020,LOXL4,LZTS2,MARVELD1,MGEA5,MIR1287,MIR1307,MIR146B,MIR2110,MIR3158-1,MIR3158-2,MIR3663,MIR4295,MIR4482-1,MIR4483,MIR4680,MIR4685,MIR5692C2,MIR608,MIR609,MIR936,MMS19,MORN4,MRPL43,MXI1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX2-3,NOLC1,NPM3,NRAP,NT5C2,OBFC1,OPALIN,PAX2,PCGF6,PDCD11,PDCD4,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPRC1,PSD,PYROXD2,R3HCC1L,RBM20,RNU6-53,RPL13AP6,RRP12,SCD,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SH3PXD2A,SHOC2,SLC18A2,SLC25A28,SLIT1,SLK,SMC3,SMNDC1,SNORA12,SORCS1,SORCS3,SUFU,TAF5,TCF7L2,TDRD1,TECTB,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,TRUB1,UBTD1,USMG5,VAX1,VTI1A,VWA2,WBP1L,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27 chr10 98000000 135374737 Loss Breast cancer Conventional CGH 17393978 ABCC2,ABLIM1,ACADSB,ACSL5,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLNK,BLOC1S2,BNIP3,BTBD16,BTRC,BUB3,C10orf118,C10orf12,C10orf120,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD7,ERLIN1,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FBXL15,FBXW4,FGF8,FGFR2,FLJ37035,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GLRX3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTRA1,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KNDC1,LBX1,LCOR,LDB1,LHPP,LINC00263,LOC100169752,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LOC729020,LOXL4,LRRC27,LZTS2,MARVELD1,MCMBP,METTL10,MGEA5,MGMT,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3158-1,MIR3158-2,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMS19,MORN4,MRPL43,MTG1,MXI1,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOLC1,NPM3,NPS,NRAP,NSMCE4A,NT5C2,OAT,OBFC1,OPALIN,PAOX,PAX2,PCGF6,PDCD11,PDCD4,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH3PXD2A,SHOC2,SLC18A2,SLC25A28,SLIT1,SLK,SMC3,SMNDC1,SNORA12,SNORA19,SORCS1,SORCS3,SPRN,STK32C,SUFU,SYCE1,TACC2,TAF5,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,TRUB1,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZRANB1 chr10 98000000 99400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD2,ARHGAP19,ARHGAP19-SLIT1,BLNK,C10orf12,C10orf62,DNTT,EXOSC1,FRAT1,FRAT2,HOGA1,LCOR,LOC100505540,MIR5692C2,MMS19,MORN4,OPALIN,PGAM1,PIK3AP1,RRP12,SLIT1,TLL2,TM9SF3,UBTD1,ZDHHC16 chr10 98000000 99400000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ANKRD2,ARHGAP19,ARHGAP19-SLIT1,BLNK,C10orf12,C10orf62,DNTT,EXOSC1,FRAT1,FRAT2,HOGA1,LCOR,LOC100505540,MIR5692C2,MMS19,MORN4,OPALIN,PGAM1,PIK3AP1,RRP12,SLIT1,TLL2,TM9SF3,UBTD1,ZDHHC16 chr10 9803932 9806385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 98054075 98088290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNTT chr10 98054075 98088290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNTT chr10 98054143 98088309 Gain and loss Pancreatic cancer SNP array 17952125 DNTT chr10 98060886 135374737 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ABCC2,ABLIM1,ACADSB,ACSL5,ACTR1A,ADAM12,ADAM8,ADD3,ADRA2A,ADRB1,AFAP1L2,ANKRD2,ARHGAP19,ARHGAP19-SLIT1,ARL3,ARMS2,AS3MT,ATE1,ATRNL1,AVPI1,BAG3,BBIP1,BCCIP,BLOC1S2,BNIP3,BTBD16,BTRC,BUB3,C10orf118,C10orf12,C10orf120,C10orf137,C10orf2,C10orf32,C10orf32-AS3MT,C10orf62,C10orf76,C10orf82,C10orf88,C10orf90,C10orf91,C10orf95,CACUL1,CALHM1,CALHM2,CALHM3,CALY,CASC2,CASP7,CCDC147,CCDC172,CHST15,CHUK,CLRN3,CNNM1,CNNM2,COL17A1,COX15,CPN1,CPXM2,CRTAC1,CTAGE7P,CTBP2,CUEDC2,CUTC,CUZD1,CWF19L1,CYP17A1,CYP2E1,DCLRE1A,DHX32,DMBT1,DNMBP,DNMBP-AS1,DNTT,DOCK1,DPCD,DPYSL4,DUSP5,EBF3,ECHS1,EIF3A,ELOVL3,EMX2,EMX2OS,ENO4,ENTPD7,ERLIN1,EXOSC1,FAM160B1,FAM175B,FAM178A,FAM196A,FAM204A,FAM24A,FAM24B,FAM24B-CUZD1,FAM45A,FAM45B,FAM53B,FANK1,FBXL15,FBXW4,FGF8,FGFR2,FLJ37035,FLJ41350,FLJ46300,FLJ46361,FOXI2,FRAT1,FRAT2,FUOM,GBF1,GFRA1,GLRX3,GOLGA7B,GOT1,GPAM,GPR123,GPR26,GRK5,GSTO1,GSTO2,GUCY2GP,HABP2,HIF1AN,HMX2,HMX3,HOGA1,HPS1,HPS6,HPSE2,HSPA12A,HTRA1,IKZF5,INA,INPP5A,INPP5F,ITPRIP,JAKMIP3,KAZALD1,KCNIP2,KCNK18,KIAA1598,KNDC1,LBX1,LCOR,LDB1,LHPP,LINC00263,LOC100169752,LOC100289509,LOC100505540,LOC100505761,LOC100505839,LOC100505933,LOC282997,LOC283038,LOC387723,LOC399815,LOC399829,LOC619207,LOC729020,LOXL4,LRRC27,LZTS2,MARVELD1,MCMBP,METTL10,MGEA5,MGMT,MIR1287,MIR1307,MIR146B,MIR202,MIR2110,MIR3158-1,MIR3158-2,MIR3663,MIR378C,MIR3941,MIR3944,MIR4295,MIR4296,MIR4297,MIR4482-1,MIR4483,MIR4484,MIR4680,MIR4681,MIR4682,MIR4685,MIR5692C2,MIR5694,MIR608,MIR609,MIR936,MKI67,MMP21,MMS19,MORN4,MRPL43,MTG1,MXI1,NANOS1,NDUFB8,NEURL,NFKB2,NHLRC2,NKX1-2,NKX2-3,NKX6-2,NOLC1,NPM3,NPS,NRAP,NSMCE4A,NT5C2,OAT,OBFC1,OPALIN,PAOX,PAX2,PCGF6,PDCD11,PDCD4,PDZD7,PDZD8,PGAM1,PI4K2A,PIK3AP1,PITX3,PKD2L1,PLEKHA1,PLEKHS1,PNLIP,PNLIPRP1,PNLIPRP2,PNLIPRP3,POLL,PPAPDC1A,PPP2R2D,PPRC1,PRAP1,PRDX3,PRLHR,PSD,PSTK,PTPRE,PWWP2B,PYROXD2,R3HCC1L,RAB11FIP2,RBM20,RGS10,RNU6-53,RPL13AP6,RRP12,SCD,SEC23IP,SEC31B,SEMA4G,SFR1,SFRP5,SFXN2,SFXN3,SFXN4,SH3PXD2A,SHOC2,SLC18A2,SLC25A28,SLIT1,SLK,SMC3,SMNDC1,SNORA12,SNORA19,SORCS1,SORCS3,SPRN,STK32C,SUFU,SYCE1,TACC2,TAF5,TCERG1L,TCF7L2,TDRD1,TECTB,TEX36,TIAL1,TLL2,TLX1,TLX1NB,TM9SF3,TMEM180,TRIM8,TRUB1,TTC40,TUBGCP2,UBTD1,UROS,USMG5,UTF1,VAX1,VENTX,VTI1A,VWA2,WBP1L,WDR11,WDR11-AS1,WDR96,WNT8B,XPNPEP1,ZDHHC16,ZDHHC6,ZFYVE27,ZNF511,ZRANB1 chr10 98092963 98109082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNTT,OPALIN chr10 98092963 98109082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNTT,OPALIN chr10 98092969 98109049 Gain and loss Pancreatic cancer SNP array 17952125 DNTT,OPALIN chr10 98104988 98109082 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 OPALIN chr10 98114355 98263432 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 OPALIN,TLL2 chr10 98114355 98263658 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 OPALIN,TLL2 chr10 98114356 98263658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OPALIN,TLL2 chr10 98114356 98263658 Gain and loss Pancreatic cancer SNP array 17952125 OPALIN,TLL2 chr10 98114356 98263658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPALIN,TLL2 chr10 98114943 98115043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPALIN chr10 98204534 98204615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLL2 chr10 982228 982303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 98270422 98336799 Gain and loss Pancreatic cancer SNP array 17952125 TLL2,TM9SF3 chr10 98270424 98336799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLL2,TM9SF3 chr10 98270424 98336799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLL2,TM9SF3 chr10 98309932 98310669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TM9SF3 chr10 98343058 98470269 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PIK3AP1,TM9SF3 chr10 98343061 98470269 Gain and loss Pancreatic cancer SNP array 17952125 PIK3AP1,TM9SF3 chr10 98343063 98470269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3AP1,TM9SF3 chr10 98343063 98470269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3AP1,TM9SF3 chr10 98369123 98369222 Gain and loss Pancreatic cancer SNP array 17952125 PIK3AP1 chr10 98369123 98369230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3AP1 chr10 98369124 98369233 Gain and loss Pancreatic cancer SNP array 17952125 PIK3AP1 chr10 98370624 98371454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3AP1 chr10 98374693 98419495 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3AP1 chr10 98398112 98428643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3AP1 chr10 98459553 98459585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3AP1 chr10 98492914 98493017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 98492914 98493020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 98500035 98500646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 98500035 98500646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 98523679 98693465 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 LCOR chr10 98527138 98527445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 98551104 98558100 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 98578416 98578511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 98582029 98708653 Gain and loss Pancreatic cancer SNP array 17952125 LCOR chr10 98582029 98708680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCOR chr10 98582029 98708680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCOR chr10 98665380 98665649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCOR chr10 98670449 98670538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCOR chr10 98675781 98675951 Gain and loss Pancreatic cancer SNP array 17952125 LCOR chr10 98686475 98686549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LCOR chr10 98731031 98735572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 98731031 98735572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 98731031 98735574 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 98747001 98961500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP19-SLIT1,LOC100505540,SLIT1 chr10 98747785 98935673 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP19-SLIT1,LOC100505540,SLIT1 chr10 98747785 99015874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP19,ARHGAP19-SLIT1,LOC100505540,SLIT1 chr10 98747785 99015874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP19,ARHGAP19-SLIT1,LOC100505540,SLIT1 chr10 98779953 98952462 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGAP19-SLIT1,LOC100505540,SLIT1 chr10 98802252 98802352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLIT1 chr10 98805835 98840597 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLIT1 chr10 98820263 98820317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLIT1 chr10 98857284 99268440 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ARHGAP19,ARHGAP19-SLIT1,EXOSC1,FRAT1,FRAT2,LOC100505540,MMS19,PGAM1,RRP12,SLIT1,UBTD1,ZDHHC16 chr10 98892128 99655764 LOH Normal High-resolution SNP genotyping 21211785 ANKRD2,ARHGAP19,ARHGAP19-SLIT1,AVPI1,C10orf62,CRTAC1,EXOSC1,FRAT1,FRAT2,GOLGA7B,HOGA1,MARVELD1,MIR5692C2,MMS19,MORN4,PGAM1,PI4K2A,RRP12,SFRP5,SLIT1,UBTD1,ZDHHC16,ZFYVE27 chr10 98892430 98930199 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP19-SLIT1,SLIT1 chr10 98902793 99042403 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ARHGAP19,ARHGAP19-SLIT1,SLIT1 chr10 98923215 98923285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP19-SLIT1,SLIT1 chr10 98968986 99042403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP19,ARHGAP19-SLIT1 chr10 98968986 99042403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP19,ARHGAP19-SLIT1 chr10 98971923 99042420 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP19,ARHGAP19-SLIT1 chr10 99021223 99060680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP19,ARHGAP19-SLIT1 chr10 99023101 99029400 Deletion Glioma mate-paired sequence 20126413 ARHGAP19,ARHGAP19-SLIT1 chr10 99024759 99027844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP19,ARHGAP19-SLIT1 chr10 99024854 99027387 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGAP19,ARHGAP19-SLIT1 chr10 99024864 99027397 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ARHGAP19,ARHGAP19-SLIT1 chr10 9904256 9904380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 99047041 99047304 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP19,ARHGAP19-SLIT1 chr10 99047041 99047304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP19,ARHGAP19-SLIT1 chr10 99047449 99047536 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP19,ARHGAP19-SLIT1 chr10 99047449 99047536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP19,ARHGAP19-SLIT1 chr10 99058885 99059705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99069011 99071662 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr10 99069011 99071662 Gain or loss Breast cancer - 20668451 NOT_FOUND chr10 99069011 99071662 Gain or loss Cancer - 20668451 NOT_FOUND chr10 99069011 99071662 Gain or loss Lung cancer - 20668451 NOT_FOUND chr10 99069011 99071662 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr10 99069011 99071662 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr10 99069011 99071662 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr10 99069012 99071662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 99069088 99071087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99069088 99071087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99082244 99084456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99082244 99084456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99083618 99084319 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 99098273 99098598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 99106449 99151087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RRP12 chr10 99106449 99151087 Gain and loss Pancreatic cancer SNP array 17952125 RRP12 chr10 99106449 99151087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRP12 chr10 99132682 99132741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRP12 chr10 9913315 9913415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 99142944 99143294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRP12 chr10 99160552 100042189 LOH Normal High-resolution SNP genotyping 21211785 ANKRD2,AVPI1,C10orf62,CRTAC1,EXOSC1,GOLGA7B,HOGA1,LOXL4,MARVELD1,MIR5692C2,MMS19,MORN4,PGAM1,PI4K2A,R3HCC1L,RRP12,SFRP5,UBTD1,ZDHHC16,ZFYVE27 chr10 99170942 99171054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99170943 99171054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 99170944 99171054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 99176017 99183184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99176017 99183184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 99176017 99183184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99185656 99195758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOSC1,PGAM1 chr10 99185656 99195758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOSC1,PGAM1 chr10 99185994 99195739 Gain and loss Pancreatic cancer SNP array 17952125 EXOSC1,PGAM1 chr10 99195920 99207114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOSC1,ZDHHC16 chr10 99195920 99207114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOSC1,ZDHHC16 chr10 99195920 99207116 Gain and loss Pancreatic cancer SNP array 17952125 EXOSC1,ZDHHC16 chr10 99208071 99248503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMS19,ZDHHC16 chr10 99208071 99248503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMS19,ZDHHC16 chr10 99208073 99248505 Gain and loss Pancreatic cancer SNP array 17952125 MMS19,ZDHHC16 chr10 99248758 99320950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMS19,UBTD1 chr10 99248758 99320950 Gain and loss Pancreatic cancer SNP array 17952125 MMS19,UBTD1 chr10 99248758 99320950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMS19,UBTD1 chr10 99275365 99320491 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UBTD1 chr10 9928183 9950290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr10 99307580 99336642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD2,UBTD1 chr10 99308801 99313400 Deletion Glioma mate-paired sequence 20126413 UBTD1 chr10 99322188 99333629 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD2,UBTD1 chr10 99322188 99333631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD2,UBTD1 chr10 99322188 99333631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD2,UBTD1 chr10 99327995 99328095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBTD1 chr10 99334070 99362541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD2,C10orf62,HOGA1,MIR5692C2 chr10 99334070 99362541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD2,C10orf62,HOGA1,MIR5692C2 chr10 99334092 99362543 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD2,C10orf62,HOGA1,MIR5692C2 chr10 99334110 99362545 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ANKRD2,C10orf62,HOGA1,MIR5692C2 chr10 99339474 99340680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD2 chr10 99339474 99340680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD2 chr10 99364301 99383334 Gain and loss Pancreatic cancer SNP array 17952125 HOGA1,MORN4 chr10 99364301 99383842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOGA1,MORN4 chr10 99364301 99383842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOGA1,MORN4 chr10 99390433 99426177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MORN4,PI4K2A chr10 99390433 99426177 Gain and loss Pancreatic cancer SNP array 17952125 MORN4,PI4K2A chr10 99390433 99426177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MORN4,PI4K2A chr10 99400000 102000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC2,AVPI1,CHUK,CNNM1,COX15,CPN1,CRTAC1,CUTC,CWF19L1,DNMBP,DNMBP-AS1,ENTPD7,ERLIN1,GOLGA7B,GOT1,HPS1,HPSE2,LOXL4,MARVELD1,MIR1287,MIR4685,NKX2-3,PI4K2A,PYROXD2,R3HCC1L,SFRP5,SLC25A28,SNORA12,ZFYVE27 chr10 99400000 102000000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ABCC2,AVPI1,CHUK,CNNM1,COX15,CPN1,CRTAC1,CUTC,CWF19L1,DNMBP,DNMBP-AS1,ENTPD7,ERLIN1,GOLGA7B,GOT1,HPS1,HPSE2,LOXL4,MARVELD1,MIR1287,MIR4685,NKX2-3,PI4K2A,PYROXD2,R3HCC1L,SFRP5,SLC25A28,SNORA12,ZFYVE27 chr10 99400000 105700000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ABCC2,ACTR1A,ARL3,AS3MT,AVPI1,BLOC1S2,BTRC,C10orf2,C10orf32,C10orf32-AS3MT,C10orf76,C10orf95,CALHM1,CALHM2,CALHM3,CHUK,CNNM1,CNNM2,COX15,CPN1,CRTAC1,CUEDC2,CUTC,CWF19L1,CYP17A1,DNMBP,DNMBP-AS1,DPCD,ELOVL3,ENTPD7,ERLIN1,FAM178A,FBXL15,FBXW4,FGF8,FLJ41350,GBF1,GOLGA7B,GOT1,HIF1AN,HPS1,HPS6,HPSE2,INA,KAZALD1,KCNIP2,LBX1,LDB1,LINC00263,LOC100289509,LOC100505761,LOC100505839,LOC729020,LOXL4,LZTS2,MARVELD1,MGEA5,MIR1287,MIR1307,MIR146B,MIR3158-1,MIR3158-2,MIR4685,MIR608,MRPL43,NDUFB8,NEURL,NFKB2,NKX2-3,NOLC1,NPM3,NT5C2,OBFC1,PAX2,PCGF6,PDCD11,PDZD7,PI4K2A,PITX3,PKD2L1,POLL,PPRC1,PSD,PYROXD2,R3HCC1L,SCD,SEC31B,SEMA4G,SFRP5,SFXN2,SFXN3,SH3PXD2A,SLC25A28,SNORA12,SUFU,TAF5,TLX1,TLX1NB,TMEM180,TRIM8,USMG5,WBP1L,WNT8B,ZFYVE27 chr10 99407559 99407616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PI4K2A chr10 99425001 99690500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AVPI1,CRTAC1,GOLGA7B,MARVELD1,PI4K2A,SFRP5,ZFYVE27 chr10 99427170 99437005 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PI4K2A chr10 99427173 99437009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4K2A chr10 99427173 99437009 Gain and loss Pancreatic cancer SNP array 17952125 PI4K2A chr10 99427173 99437009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4K2A chr10 99451459 99451559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 99463469 99467897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr10 99463471 99467895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr10 99474121 99474166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARVELD1 chr10 99486870 99510642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE27 chr10 99486870 99510642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE27 chr10 99486872 99510642 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE27 chr10 99516369 99521727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE27 chr10 99516369 99521727 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE27 chr10 99516369 99521727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE27 chr10 99516497 99521746 Copy number Lung cancer - 20668451 ZFYVE27 chr10 99516497 99521746 Gain or loss Breast cancer - 20668451 ZFYVE27 chr10 99516497 99521746 Gain or loss Cancer - 20668451 ZFYVE27 chr10 99516497 99521746 Gain or loss Lung cancer - 20668451 ZFYVE27 chr10 99516497 99521746 Gain or loss Ovarian cancer - 20668451 ZFYVE27 chr10 99516497 99521746 Gain or loss Pancreas cancer - 20668451 ZFYVE27 chr10 99516497 99521746 Gain or loss Prostate cancer - 20668451 ZFYVE27 chr10 99548300 99957105 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CRTAC1,GOLGA7B,R3HCC1L chr10 9957779 9957879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 99599986 99617772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA7B chr10 99599986 99617772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA7B chr10 99609202 99614019 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA7B chr10 99614748 99780575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRTAC1,GOLGA7B chr10 99614748 99780575 Gain and loss Pancreatic cancer SNP array 17952125 CRTAC1,GOLGA7B chr10 99614748 99780575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTAC1,GOLGA7B chr10 99619002 99619561 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GOLGA7B chr10 99621030 99621130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GOLGA7B chr10 99622818 99622918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GOLGA7B chr10 99633130 99665140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRTAC1 chr10 99691684 99691745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTAC1 chr10 99732997 99733333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRTAC1 chr10 99776948 99777048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTAC1 chr10 99780490 99780590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTAC1 chr10 99782161 101135713 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNNM1,CRTAC1,HPS1,HPSE2,LOXL4,MIR1287,MIR4685,PYROXD2,R3HCC1L chr10 99784852 99784929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTAC1 chr10 99825156 99827467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr10 99828436 99828536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr10 99884418 99994644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 R3HCC1L chr10 99884418 99994644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 R3HCC1L chr10 99894383 99894463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 R3HCC1L chr10 99911642 99911738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 R3HCC1L chr10 99913034 99994639 Gain and loss Pancreatic cancer SNP array 17952125 R3HCC1L chr10 99997433 100017997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOXL4,R3HCC1L chr10 99997433 100017997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOXL4,R3HCC1L chr10 99997440 100017997 Gain and loss Pancreatic cancer SNP array 17952125 LOXL4,R3HCC1L chr1 10000000 12600000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf127,CASZ1,CLCN6,CORT,DFFA,DRAXIN,EXOSC10,FBXO2,FBXO44,FBXO6,KIAA2013,KIF1B,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PEX14,PGD,PLOD1,PTCHD2,RBP7,SNORA59A,SNORA59B,SRM,TARDBP,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,VPS13D chr1 10001852 10151200 Loss Neuroblastoma References 19638189 LZIC,NMNAT1,RBP7,UBE4B chr1 100022884 100023029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 100027661 100101597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 100029806 100029897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 100046168 100046248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 100057466 100057535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 100071676 100210363 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FRRS1,MIR548AA1,MIR548D1,PALMD chr1 100076781 100076852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 100079900 100079985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 100080754 100080905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 100084206 100084303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 100088228 100162167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548AA1,MIR548D1,PALMD chr1 100088228 100162167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AA1,MIR548D1,PALMD chr1 100147561 100201027 Gain and loss Pancreatic cancer SNP array 17952125 FRRS1,MIR548AA1,MIR548D1,PALMD chr1 10015602 10163883 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NMNAT1,RBP7,UBE4B chr1 10015603 10163876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMNAT1,RBP7,UBE4B chr1 10015603 10163876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT1,RBP7,UBE4B chr1 100156516 100156616 Gain and loss Pancreatic cancer SNP array 17952125 MIR548AA1,MIR548D1,PALMD chr1 100178214 100178320 Gain and loss Pancreatic cancer SNP array 17952125 FRRS1,MIR548AA1,MIR548D1 chr1 100178215 100178320 Gain and loss Pancreatic cancer SNP array 17952125 FRRS1,MIR548AA1,MIR548D1 chr1 100201920 100202020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRRS1 chr1 100208128 100261594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRRS1 chr1 100208128 100261594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRRS1 chr1 100215810 100260948 Gain and loss Pancreatic cancer SNP array 17952125 FRRS1 chr1 100217083 100217189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRRS1 chr1 100238781 100238883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 100243720 100243804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10025066 10087997 Copy number Autism exome sequencing 22495311 NMNAT1,RBP7 chr1 100261125 100310532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 10027309 10175557 Gain and loss Pancreatic cancer SNP array 17952125 NMNAT1,RBP7,UBE4B chr1 100276377 100321515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 100276377 100321515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 100287750 100287834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 100292640 100327224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGL chr1 10029362 10546623 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 APITD1,APITD1-CORT,CORT,DFFA,KIF1B,NMNAT1,PEX14,PGD,RBP7,UBE4B chr1 100310740 100328074 Gain and loss Pancreatic cancer SNP array 17952125 AGL chr1 100321692 100371099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 100321692 100371099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 100326522 100355822 Gain and loss Pancreatic cancer SNP array 17952125 AGL chr1 100337383 100337634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 10037090 10037426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT1 chr1 100371294 100388632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 100371294 100388632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 100372897 100427397 Gain and loss Pancreatic cancer SNP array 17952125 AGL chr1 100386051 100386139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGL chr1 100386997 100416359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 100386997 100416359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGL chr1 10041316 10042297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT1 chr1 100425072 100487997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC35A3 chr1 100425072 100487997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35A3 chr1 100443784 100469348 Gain and loss Pancreatic cancer SNP array 17952125 SLC35A3 chr1 100451437 100451814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35A3 chr1 100484922 100518857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HIAT1,SLC35A3 chr1 100487234 100487455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35A3 chr1 100504351 100529915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIAT1 chr1 100504351 100529915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIAT1 chr1 100509377 100510193 Gain and loss Pancreatic cancer SNP array 17952125 HIAT1 chr1 100519385 100519452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIAT1 chr1 100530068 100697853 Gain and loss Pancreatic cancer SNP array 17952125 DBT,HIAT1,LRRC39,SASS6,TRMT13 chr1 100569944 100570760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SASS6 chr1 100569944 100570760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SASS6 chr1 100590611 100758420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DBT,LRRC39,MIR553,RTCA,SASS6,TRMT13 chr1 100590611 100758420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DBT,LRRC39,MIR553,RTCA,SASS6,TRMT13 chr1 10059836 10059894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBP7 chr1 100616826 100616919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC39 chr1 100631177 100632170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC39 chr1 100681222 101031613 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDC14A,DBT,GPR88,MIR553,RTCA chr1 100681222 103491103 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDC14A,COL11A1,DBT,DNAJA1P5,DPH5,EXTL2,GPR88,LOC100128787,MIR553,OLFM3,RNU6-6,RTCA,S1PR1,SLC30A7,VCAM1 chr1 100689596 100689696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DBT chr1 1007060 1041599 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C1orf159,RNF223 chr1 1007061 1041341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf159,RNF223 chr1 1007068 1041338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf159,RNF223 chr1 1007068 1041338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf159,RNF223 chr1 100715714 100719589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 10075582 11158005 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 APITD1,APITD1-CORT,C1orf127,CASZ1,CORT,DFFA,EXOSC10,KIF1B,MASP2,PEX14,PGD,RBP7,SRM,TARDBP,UBE4B chr1 100764223 100765011 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 100776316 100780171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 100776316 100780171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 100784125 100784225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 100818677 103024856 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 CDC14A,DNAJA1P5,DPH5,EXTL2,GPR88,LOC100128787,OLFM3,RNU6-6,S1PR1,SLC30A7,VCAM1 chr1 100824790 100825596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC14A chr1 100827531 100827631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC14A chr1 100890091 100890411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC14A chr1 100892534 100894939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDC14A chr1 100897318 100916618 Gain and loss Pancreatic cancer SNP array 17952125 CDC14A chr1 100957885 100977185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC14A chr1 100957885 100977185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC14A chr1 100964950 101093664 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CDC14A,GPR88,LOC100128787 chr1 100982344 100982438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC14A chr1 100994011 100994214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 100994121 100994221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 100994210 100994362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 0 0 Gain Cervical cancer array CGH 21063398 NOT_FOUND chr11 0 0 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 0 0 Gain or loss Cancer - 20668451 NOT_FOUND chr11 0 0 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 0 0 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 0 0 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 0 0 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr1 101041631 101041676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 101049969 101073575 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 101073653 101157013 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128787 chr1 101110531 101134142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128787 chr1 101110531 101134142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128787 chr1 101118960 101119567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 101134220 101217580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VCAM1 chr1 101134220 101217580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VCAM1 chr1 1011502 1589223 LOH Normal High-resolution SNP genotyping 21211785 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf233,CCNL2,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,SSU72,TAS1R3,TMEM240,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 chr1 101161140 101161459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 101167641 101203392 Gain and loss Pancreatic cancer SNP array 17952125 VCAM1 chr1 101168028 101168399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 101179156 101180138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 0 121200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACTN3,ACY3,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,ANO9,AP2A2,AP5B1,APBB1,API5,APIP,APLNR,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL2,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATHL1,ATL3,ATM,ATP5L,B3GAT3,B3GNT1,B3GNT6,B4GALNT4,BACE1,BACE1-AS,BAD,BANF1,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BET1L,BIRC2,BIRC3,BRMS1,BRSK2,BSCL2,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf21,C11orf24,C11orf30,C11orf31,C11orf34,C11orf35,C11orf40,C11orf42,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CARS,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD151,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD81,CD82,CDC42BPG,CDC42EP2,CDCA5,CDHR5,CDK2AP2,CDKN1C,CELF1,CEND1,CEP164,CEP57,CFL1,CHCHD8,CHID1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSD,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX6,DEAF1,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DRD4,DSCAML1,DTX4,DUSP8,DYNC2H1,E2F8,EED,EEF1G,EFCAB4A,EFEMP2,EHBP1L1,EHD1,EHF,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,EPS8L2,ESRRA,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAM99A,FAM99B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H19,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPHL1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRAS,HRASLS2,HRASLS5,HSD17B12,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYOU1,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IFT46,IGF2,IGF2-AS,IGHMBP2,IGSF22,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INS,INS-IGF2,INSC,INTS4,INTS5,IPO7,IRF7,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ11,KCNK4,KCNK7,KCNQ1,KCNQ1DN,KCNQ1OT1,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KLC2,KLHL35,KRT8P41,KRTAP5-1,KRTAP5-10,KRTAP5-11,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133161,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC143666,LOC221122,LOC254100,LOC255512,LOC283143,LOC283194,LOC283214,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC653486,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRC56,LRRN4CL,LRTOMT,LSP1,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR1237,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4298,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4686,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR483,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR675,MIR708,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOB2,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRE,MRGPRF,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL23,MRPL23-AS1,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NAP1L4,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NLRP10,NLRP14,NLRP6,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRIP3,NRXN2,NS3BP,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODF3,ODZ4,OLFML1,OMP,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6Q1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OSBPL5,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PARVA,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDDC1,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDA2,PHLDB1,PHOX2A,PHRF1,PICALM,PIDD,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKP3,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,PNPLA2,POLA2,POLD3,POLD4,POLR2G,POLR2L,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PSMD13,PTDSS2,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RASSF7,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIC8A,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNH1,RNU6-83,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPLP2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1C1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN4B,SCT,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIDT2,SIGIRR,SIK2,SIK3,SIPA1,SIRT3,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A18,SLC22A18AS,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A22,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA52,SNORA54,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX32,SOX6,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRSF8,SSH3,SSRP1,SSSCA1,ST5,STARD10,STIM1,STIP1,STK33,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT8,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TALDO1,TBC1D10C,TBCEL,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,TH,THRSP,THY1,TIGD3,TIMM10,TIMM8B,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMEM25,TMEM41B,TMEM80,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPM5,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS37C,VPS51,VSTM5,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr1 101227773 101263950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 101227773 101263950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 101310730 101310916 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 101319027 103179204 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAJA1P5,DPH5,EXTL2,OLFM3,RNU6-6,S1PR1,SLC30A7 chr1 101345495 101345527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXTL2 chr1 101363152 101363252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC30A7 chr1 101365055 101365155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC30A7 chr1 101371297 101371483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC30A7 chr1 101406243 101406342 Gain and loss Pancreatic cancer SNP array 17952125 SLC30A7 chr1 101414596 101419094 Gain and loss Pancreatic cancer SNP array 17952125 SLC30A7 chr1 101447658 101447808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 101448452 101448957 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 10145917 10146019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE4B chr1 101466810 101466909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPH5 chr1 101475043 101479657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPH5 chr1 101475043 101479657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPH5 chr1 101494418 101494760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 101496711 101496786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 101496724 101496799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 101509019 101509512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 101540923 101541023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10157592 10157698 Gain and loss Pancreatic cancer SNP array 17952125 UBE4B chr1 10157593 10157697 Gain and loss Pancreatic cancer SNP array 17952125 UBE4B chr1 101580000 106150000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3,RNU6-6,S1PR1 chr1 101602483 101602583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10172336 10436014 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KIF1B,UBE4B chr1 101777242 101789688 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr1 101785815 101785847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1018001 1046500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf159 chr1 101886628 101886728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10193418 10364248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF1B,UBE4B chr1 10193418 10364248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1B,UBE4B chr1 101963913 101964761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 101966200 102000828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 101980154 102174569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 102000000 107000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3 chr1 102000000 107000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3 chr1 102000000 107000000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3 chr1 102000000 107000000 Microdeletion Immune disease - 21076436 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3 chr1 102000000 107000000 Microdeletion Immune disease Affymetrix Genome-Wide Human SNP Array 6.0 platform 21042300 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3 chr1 102011216 102011316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 102024480 102026647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 102024480 102026647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 102037428 102037500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 102040721 102235136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 102040721 102235136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 102049588 102072320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 10205097 10375920 Gain and loss Pancreatic cancer SNP array 17952125 KIF1B,UBE4B chr1 10205 391250 Copy number Normal Quantitative Real-Time PCR 17666543 DDX11L1,FAM138A,FAM138F,LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P chr1 102096209 102098748 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 102097995 102098067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 102110155 102132887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 102141244 102141344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 102200000 103000000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 DNAJA1P5,OLFM3 chr1 102200000 107200000 Loss Gastric cancer Array CGH 16891809 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3 chr1 102200000 107200000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3 chr1 102200000 107200000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,DNAJA1P5,LOC100129138,OLFM3,RNPC3 chr1 102271490 102292075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OLFM3 chr1 102370195 102561809 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 OLFM3 chr1 102376398 102376498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLFM3 chr1 102380934 102392397 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OLFM3 chr1 102380934 102432436 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OLFM3 chr1 102381165 102432436 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OLFM3 chr1 102395713 102556188 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 OLFM3 chr1 102428272 102625426 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 OLFM3 chr1 102446991 102447134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OLFM3 chr1 102540388 102540533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10257319 10257404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 102628520 102630703 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr1 102681771 102681871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 102693510 103383912 LOH Normal High-resolution SNP genotyping 21211785 COL11A1 chr1 102708513 102708613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10273900 10274000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF1B chr1 10281611 10281717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1B chr1 102820267 102820596 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 102868654 102868972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 102883578 102883644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 102920550 102920737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10292057 10301245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF1B chr1 10293290 10293394 Gain and loss Pancreatic cancer SNP array 17952125 KIF1B chr1 10293290 10293396 Gain and loss Pancreatic cancer SNP array 17952125 KIF1B chr1 102980488 103011729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 103000000 106368585 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,LOC100129138,RNPC3 chr1 10300356 10322502 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF1B chr1 10300798 10301081 Gain and loss Pancreatic cancer SNP array 17952125 KIF1B chr1 103054281 103054475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 103054490 103054691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 103055016 103286073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 103105368 106665344 Copy number Normal Quantitative Real-Time PCR 17666543 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,LOC100129138,RNPC3 chr1 103112515 103112600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 103114611 103346640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL11A1 chr1 103114611 103346640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL11A1 chr1 103126932 103127020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 103176598 103515345 Copy number gain Normal High-resolution SNP genotyping 21211785 COL11A1 chr1 103183638 103193932 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 103187324 103187647 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 103208491 103208591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 103338287 103338848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 10335800 10348286 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 KIF1B chr1 103360338 103520551 Copy number Lung cancer paired-end sequencing 18438408 COL11A1 chr1 103366560 104230405 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-291K arrays 21546498 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,RNPC3 chr1 103423056 103655958 Gain Normal BAC array 16365383 COL11A1 chr1 103430155 103430255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL11A1 chr1 103469532 103495495 Gain Normal Birdsuite, version 1.5.2 22087296 COL11A1 chr1 103482504 103482604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL11A1 chr1 103515345 105653233 LOH Normal High-resolution SNP genotyping 21211785 ACTG1P4,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,COL11A1,LOC100129138,RNPC3 chr1 103526436 103819266 Gain Normal Birdsuite, version 1.5.2 22087296 COL11A1 chr1 103536651 169070598 Copy number Lung cancer paired-end sequencing 18438408 ACP6,ACTG1P4,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADORA3,AHCYL1,AIM2,AKNAD1,AKR7A2P1,ALDH9A1,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP8B2,ATXN7L2,B4GALT3,BCAN,BCAS2,BCL2L15,BCL9,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf162,C1orf189,C1orf192,C1orf194,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf88,C2CD4D,CA14,CADM3,CAPZA1,CASQ1,CASQ2,CCDC19,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD53,CD58,CD5L,CD84,CDC42SE1,CELF3,CELSR2,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CKS1B,CLCC1,CLK2,COL11A1,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSDE1,CSF1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYCSP52,CYMP,DAP3,DARC,DCAF6,DCAF8,DCLRE1B,DCST1,DCST2,DDR2,DDX20,DEDD,DENND2C,DENND2D,DENND4B,DPM3,DPT,DRAM2,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,EMBP1,ENSA,EPS8L3,ETV3,ETV3L,F11R,FAM102B,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM63A,FAM72B,FAM72D,FAM78B,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,FMO9P,FNDC7,GABPB2,GATAD2B,GBA,GBAP1,GDAP2,GJA5,GJA8,GNAI3,GNAT2,GNRHR2,GOLPH3L,GON4L,GPA33,GPATCH4,GPR161,GPR61,GPR89A,GPR89B,GPR89C,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HAPLN2,HAX1,HCN3,HDGF,HENMT1,HFE2,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMGCS2,HORMAD1,HRNR,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IFI16,IGSF3,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIAA1324,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LAMTOR5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100129138,LOC100129269,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506343,LOC388692,LOC400794,LOC440600,LOC440700,LOC643355,LOC643441,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRIF1,LRIG2,LRRC52,LRRC71,LY9,LYSMD1,MAB21L3,MAEL,MAGI3,MAN1A2,MCL1,MEF2D,MEX3A,MGST3,MIR190B,MIR197,MIR320B1,MIR3658,MIR4256,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MLLT11,MNDA,MOV10,MPC2,MPZ,MPZL1,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPHL,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCSTN,NDUFS2,NES,NGF,NHLH1,NHLH2,NIT1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR1I3,NRAS,NTNG1,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OLFML3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PHGDH,PHTF1,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PRCC,PRKAB2,PRMT6,PROK1,PRPF3,PRPF38B,PRR9,PRUNE,PSMA5,PSMB4,PSMD4,PSRC1,PTGFRN,PTPN22,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAP1A,RBM15,RBM8A,RCSD1,REG4,RFX5,RGS4,RGS5,RHBG,RHOC,RIIAD1,RIT1,RNF115,RNPC3,RORC,RP11-165H20.1,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RSBN1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SARS,SCAMP3,SCARNA2,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHE,SIKE1,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC6A17,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SORT1,SPAG17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SSR2,ST7L,STXBP3,SUMO1P3,SV2A,SYCP1,SYPL2,SYT11,SYT6,TADA1,TAF13,TAGLN2,TARS2,TBX15,TBX19,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM167B,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM33,TRIM45,TRIM46,TSACC,TSHB,TSPAN2,TSTD1,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBL4B,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VANGL1,VANGL2,VAV3,VAV3-AS1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR47,WDR77,WNT2B,XCL1,XCL2,YY1AP1,ZBTB7B,ZNF687,ZNF697 chr1 103543540 103543640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL11A1 chr1 103573040 103573135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL11A1 chr1 103584694 103592978 Gain Normal BAC array 16365383 NOT_FOUND chr1 1036980 47620504 Gain Prostate cancer Array CGH 18632612 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DCDC2B,DDI2,DDOST,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DMBX1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAM110D,FAM131C,FAM132A,FAM167B,FAM176B,FAM183A,FAM213B,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130557,LOC100133445,LOC100133612,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LRRC38,LRRC41,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NSUN4,NT5C1A,NUDC,OPRD1,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr1 103702380 103923047 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 103702380 104049621 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 103702380 104049621 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 103702380 104164023 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACTG1P4,AMY2A,AMY2B,RNPC3 chr1 103718768 103718873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 103780424 103834168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 10379002 10379102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF1B chr1 103799708 118390708 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ACTG1P4,ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,HIPK1,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LOC100129138,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR197,MIR320B1,MIR4256,MIR942,MOV10,MYBPHL,NBPF4,NBPF6,NGF,NHLH2,NRAS,NTNG1,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTGFRN,PTPN22,RAP1A,RBM15,RHOC,RNPC3,RP11-165H20.1,RSBN1,SARS,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC6A17,SORT1,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TMEM167B,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VTCN1,WDR47,WDR77,WNT2B chr1 103804337 103923047 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 103804337 104049621 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 103804337 104049621 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 103804337 104164023 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACTG1P4,AMY2A,AMY2B,RNPC3 chr1 10381668 10402788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF1B chr1 10381668 10402788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1B chr1 103816991 103875754 Gain Normal 244K array 17666407 NOT_FOUND chr1 103830000 103950000 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr1 10383709 10516820 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APITD1,APITD1-CORT,CORT,KIF1B,PGD chr1 1038380 1044633 Gain and loss Pancreatic cancer SNP array 17952125 C1orf159 chr1 103838772 103839089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 103839026 103970344 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 103840933 103843129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 103845686 103972504 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 103871529 103880389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 103898845 103923670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 103898845 103923670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 103900163 104041200 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 103900163 104069733 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 RNPC3 chr1 103904299 104069733 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 RNPC3 chr1 103905687 103962929 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr1 103910749 104027079 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 103910761 103933882 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 103910761 104104926 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AMY2B,RNPC3 chr1 103910910 103919188 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 103913698 103914819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 10393351 10414467 Gain and loss Pancreatic cancer SNP array 17952125 KIF1B chr1 103933871 104104913 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 AMY2B,RNPC3 chr1 103933882 103960907 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 103942062 103950860 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 10394884 10394984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF1B chr1 103956056 104113271 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 ACTG1P4,AMY2B,RNPC3 chr1 103957313 104041200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 103957313 104062717 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 103957313 104069733 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNPC3 chr1 103957313 104069733 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNPC3 chr1 103957313 104069733 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 RNPC3 chr1 103957325 104069745 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RNPC3 chr1 103958672 104069733 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNPC3 chr1 103959820 104069733 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNPC3 chr1 103960858 104069733 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNPC3 chr1 103960907 103960908 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 103960908 103965022 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 103960956 103969925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 103960956 103969925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 103961840 103992000 Gain Stenocardia MACArray Karyo 8K BAC-chips 21860640 NOT_FOUND chr1 103961840 103992000 Gain Vasospasm MACArray Karyo 8K BAC-chips 21860640 NOT_FOUND chr1 103964711 103964711 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr1 103965022 103979561 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 103965298 104027079 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 103965298 104062717 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 103979549 104069733 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RNPC3 chr1 103979561 104023054 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 103979561 104069745 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RNPC3 chr1 103999825 104102834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMY2B,RNPC3 chr1 104004536 104013301 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 104012216 104012413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 104022852 104028091 Gain Normal 244K array 17666407 NOT_FOUND chr1 104023054 104069745 Gain or loss Normal Birdsuite, version 1.5.2 22087296 RNPC3 chr1 104031560 104040599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 104031560 104040599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 104031562 104040435 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 10403401 10408000 Deletion Glioma mate-paired sequence 20126413 KIF1B chr1 104049856 104049956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10405067 10406366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF1B chr1 10405137 10406094 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KIF1B chr1 104057868 104064016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 104057868 104064016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 104064459 104064559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 104069745 104104926 Gain Normal Birdsuite, version 1.5.2 22087296 AMY2B,RNPC3 chr1 104094038 104102834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMY2B,RNPC3 chr1 104094038 104102834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMY2B,RNPC3 chr1 104104926 104110702 Gain or loss Normal Birdsuite, version 1.5.2 22087296 AMY2B chr1 104110702 104128012 Loss Normal Birdsuite, version 1.5.2 22087296 ACTG1P4,AMY2B chr1 10412746 10434797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF1B chr1 10412746 10434797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1B chr1 104144421 104455604 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMY1A,AMY1B,AMY1C,AMY2A chr1 104144421 105345157 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMY1A,AMY1B,AMY1C,AMY2A,LOC100129138 chr1 104184597 104197934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 104187061 104205309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AMY1A,AMY1B,AMY1C chr1 104190243 104205397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AMY1A,AMY1B,AMY1C chr1 104198140 104238912 Copy number Normal ABI Prism 7000 20967220 AMY1A,AMY1B,AMY1C chr1 10424425 10446476 Gain and loss Pancreatic cancer SNP array 17952125 KIF1B chr1 104244723 104245248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 104244763 104245258 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 104253022 104253175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 104270712 104271951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 104295997 104296993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AMY1A,AMY1B,AMY1C chr1 104304648 104515175 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr1 104304860 104317725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 104322200 106634518 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC100129138 chr1 104327666 104331712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 104417155 104417682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 10443192 10455200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 10443192 10455200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 104476661 104476761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10447771 10447871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 104484752 104484852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 104497451 104497975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 104521371 104521687 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 10454871 10466879 Gain and loss Pancreatic cancer SNP array 17952125 PGD chr1 104574264 104574471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 104574378 104574481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 104574469 104574675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10457590 10613400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APITD1,APITD1-CORT,CORT,DFFA,PEX14,PGD chr1 10457590 10613400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APITD1,APITD1-CORT,CORT,DFFA,PEX14,PGD chr1 104611124 104611481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 104629406 104629506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1046501 1111000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf159,LOC254099,MIR200A,MIR200B,MIR429,TTLL10 chr1 10469278 10625079 Gain and loss Pancreatic cancer SNP array 17952125 APITD1,APITD1-CORT,CORT,DFFA,PEX14,PGD chr1 104767961 105062330 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 104828370 104828470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 104830446 104830518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 104855424 104855597 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 10487796 10532437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APITD1,APITD1-CORT,CORT,DFFA chr1 104892172 104892272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 104907750 104907850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 104989894 104989994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105020168 105020967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 105026034 105053061 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 105028103 105028203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105051312 105085256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 105053894 105054040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105054115 105054189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105055522 105057756 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 105055522 105057756 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 105056556 105057711 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 105138665 105138765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105187785 105213119 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105217090 105392431 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr1 105217664 105217738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105227801 105232100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 105229833 105230162 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 105230878 105231104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105231009 105231109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105256765 105256816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 105290930 105291030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10533748 10533848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105341933 106483868 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 105353616 105354459 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105370619 105370719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105403528 105433973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 105426539 105432433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 105454503 105454603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105634380 105634384 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105634384 105641635 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105635582 105647162 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 105635582 105647162 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 105668294 105668567 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 1057128 1091398 Gain and loss Pancreatic cancer SNP array 17952125 LOC254099 chr1 105716668 105736214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 105720590 105767469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 105726975 105774914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 105730865 105733937 Loss Normal 244K array 17666407 NOT_FOUND chr1 105778139 105778966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 105803685 105823898 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105803685 105825660 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105811650 106648187 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 105814277 105820728 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105814277 105825660 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105814887 105830601 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 105814888 105835737 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 105814899 105823898 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105814899 105825660 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105816667 105824965 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 105816667 105824965 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 105817338 105824918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 105820728 105823898 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105820728 105825593 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105820728 105825613 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105820728 105825660 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105820728 105896325 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105820821 105823886 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 105823898 105825660 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105825660 105826321 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105835455 105836461 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105835455 106057949 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105836461 106057949 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 105871508 105871608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 105888001 107213200 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 10594666 10594754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEX14 chr1 10595501 10607000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PEX14 chr1 105964713 106065063 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 105966054 106019552 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 105975935 105976035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10599480 10599759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEX14 chr1 105998854 105998954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10600223 10600312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEX14 chr1 106011330 106011430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106042184 106042363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 106056185 106056285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10607001 10663500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PEX14 chr1 106093542 106093614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106100731 106100831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106109000 106119468 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 106110789 106116611 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 10611159 10611438 Gain and loss Pancreatic cancer SNP array 17952125 PEX14 chr1 106182726 106200095 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 106191678 106191778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10619267 10779294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASZ1,PEX14 chr1 10619267 10779294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASZ1,PEX14 chr1 106234838 106235575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 106235884 106237662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 106235884 106237662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 106244158 106244276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 1062660 1571976 LOH Normal High-resolution SNP genotyping 21211785 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf233,CCNL2,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,SSU72,TAS1R3,TMEM240,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 chr1 106334457 114964386 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD2,AP4B1,AP4B1-AS1,ATP5F1,ATXN7L2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CD53,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2D,DRAM2,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,HIPK1,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAGI3,MIR197,MIR4256,MOV10,MYBPHL,NBPF4,NBPF6,NTNG1,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTPN22,RAP1A,RBM15,RHOC,RP11-165H20.1,RSBN1,SARS,SCARNA2,SLC16A1,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,ST7L,STXBP3,SYPL2,SYT6,TAF13,TMEM167B,TRIM33,UBL4B,VAV3,VAV3-AS1,WDR47,WDR77,WNT2B chr1 106371568 116327195 Gain Asthma Illumina 550K SNP array 20841430 ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,AP4B1,AP4B1-AS1,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD53,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,HIPK1,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAGI3,MIR197,MIR4256,MOV10,MYBPHL,NBPF4,NBPF6,NGF,NRAS,NTNG1,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTPN22,RAP1A,RBM15,RHOC,RP11-165H20.1,RSBN1,SARS,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TMEM167B,TRIM33,TSHB,TSPAN2,UBL4B,VANGL1,VAV3,VAV3-AS1,WDR47,WDR77,WNT2B chr1 106374179 106374211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106411328 106634702 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr1 10641535 10790973 Gain and loss Pancreatic cancer SNP array 17952125 CASZ1,PEX14 chr1 106424902 106425524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 106425050 111137105 LOH Normal High-resolution SNP genotyping 21211785 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CELSR2,CLCC1,CSF1,CYB561D1,CYMP,EPS8L3,FAM102B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,KCNA10,KCNA2,KCNC4,KIAA1324,LAMTOR5,LOC440600,MIR197,MYBPHL,NBPF4,NBPF6,NTNG1,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,RBM15,SARS,SCARNA2,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,VAV3,VAV3-AS1,WDR47 chr1 10643304 10663228 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PEX14 chr1 10644943 10644997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PEX14 chr1 106472604 106593624 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 106495330 106495430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106513905 106850495 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr1 106538301 106867200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 106543406 106543539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106576400 106576500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106634518 109031433 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NBPF4,NBPF6,NTNG1,PRMT6,SLC25A24,VAV3,VAV3-AS1 chr1 10663501 10929500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CASZ1,PEX14 chr1 106650031 106650104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106666159 106666212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 106673274 107678605 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 PRMT6 chr1 106696870 106696970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106736186 107286581 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 106741313 107170031 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 10676768 10855421 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CASZ1,PEX14 chr1 106771147 106771308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 106844447 106844512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 106850495 107220744 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr1 106857638 106894422 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 106859874 108460361 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NTNG1,PRMT6,VAV3 chr1 106867201 107246700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 106883321 106883852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 106972657 106974274 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 107000000 111600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CD53,CELSR2,CLCC1,CSF1,CYB561D1,CYMP,EPS8L3,FAM102B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,KCNA10,KCNA2,KCNA3,KCNC4,KIAA1324,LAMTOR5,LOC440600,LRIF1,MIR197,MYBPHL,NBPF4,NBPF6,NTNG1,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,RBM15,SARS,SCARNA2,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,VAV3,VAV3-AS1,WDR47 chr1 107000000 111600000 Deletion Asthma References 21956041 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CD53,CELSR2,CLCC1,CSF1,CYB561D1,CYMP,EPS8L3,FAM102B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,KCNA10,KCNA2,KCNA3,KCNC4,KIAA1324,LAMTOR5,LOC440600,LRIF1,MIR197,MYBPHL,NBPF4,NBPF6,NTNG1,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,RBM15,SARS,SCARNA2,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,VAV3,VAV3-AS1,WDR47 chr1 107000000 111600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CD53,CELSR2,CLCC1,CSF1,CYB561D1,CYMP,EPS8L3,FAM102B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,KCNA10,KCNA2,KCNA3,KCNC4,KIAA1324,LAMTOR5,LOC440600,LRIF1,MIR197,MYBPHL,NBPF4,NBPF6,NTNG1,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,RBM15,SARS,SCARNA2,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,VAV3,VAV3-AS1,WDR47 chr1 107000000 111600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CD53,CELSR2,CLCC1,CSF1,CYB561D1,CYMP,EPS8L3,FAM102B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,KCNA10,KCNA2,KCNA3,KCNC4,KIAA1324,LAMTOR5,LOC440600,LRIF1,MIR197,MYBPHL,NBPF4,NBPF6,NTNG1,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,RBM15,SARS,SCARNA2,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,VAV3,VAV3-AS1,WDR47 chr1 107000000 120700000 Loss Aetanephric adenomas Oligo aCGH 20802469 ADAM30,ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FNDC7,GDAP2,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HENMT1,HIPK1,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LINC00622,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR197,MIR320B1,MIR4256,MIR942,MOV10,MYBPHL,NBPF4,NBPF6,NBPF7,NGF,NHLH2,NOTCH2,NRAS,NTNG1,OLFML3,OVGP1,PGCP1,PHGDH,PHTF1,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTGFRN,PTPN22,RAP1A,RBM15,REG4,RHOC,RP11-165H20.1,RSBN1,SARS,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC6A17,SORT1,SPAG17,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TBX15,TMEM167B,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VTCN1,WARS2,WDR3,WDR47,WDR77,WNT2B,ZNF697 chr1 107022206 107026196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 107023241 107025005 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 10702796 10877203 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CASZ1 chr1 107049241 107049328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 107058248 107058316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 107058992 107059059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 107059065 107059131 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 107060000 118270000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,HIPK1,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR197,MIR320B1,MIR4256,MIR942,MOV10,MYBPHL,NBPF4,NBPF6,NGF,NHLH2,NRAS,NTNG1,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTGFRN,PTPN22,RAP1A,RBM15,RHOC,RP11-165H20.1,RSBN1,SARS,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC6A17,SORT1,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TMEM167B,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VTCN1,WDR47,WDR77,WNT2B chr1 1070774 1099988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC254099 chr1 107086342 107117173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 107146900 107147572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 107147729 107147797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 107147806 107148472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 107148473 107148540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 107148546 107148612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 107149063 107150011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 107157448 107157548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 107189404 107189682 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 107195670 107552925 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 107200000 111800000 Copy number Effusion lymphoma Real-time QPCR 18079361 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CD53,CELSR2,CEPT1,CHI3L2,CLCC1,CSF1,CYB561D1,CYMP,DENND2D,DRAM2,EPS8L3,FAM102B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,KCNA10,KCNA2,KCNA3,KCNC4,KIAA1324,LAMTOR5,LOC440600,LRIF1,MIR197,MYBPHL,NBPF4,NBPF6,NTNG1,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,RBM15,SARS,SCARNA2,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,VAV3,VAV3-AS1,WDR47 chr1 107200000 111800000 Copy number Schizophrenia Mapping 250K Nsp Assay kit and the Mapping 250K Sty Assay kit 17879154 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CD53,CELSR2,CEPT1,CHI3L2,CLCC1,CSF1,CYB561D1,CYMP,DENND2D,DRAM2,EPS8L3,FAM102B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,KCNA10,KCNA2,KCNA3,KCNC4,KIAA1324,LAMTOR5,LOC440600,LRIF1,MIR197,MYBPHL,NBPF4,NBPF6,NTNG1,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,RBM15,SARS,SCARNA2,SLC16A4,SLC25A24,SLC6A17,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,VAV3,VAV3-AS1,WDR47 chr1 107200000 120600000 Loss and deletion Multiple myeloma Array CGH 16616336 ADAM30,ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FNDC7,GDAP2,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HENMT1,HIPK1,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LINC00622,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR197,MIR320B1,MIR4256,MIR942,MOV10,MYBPHL,NBPF4,NBPF6,NBPF7,NGF,NHLH2,NOTCH2,NRAS,NTNG1,OLFML3,OVGP1,PGCP1,PHGDH,PHTF1,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTGFRN,PTPN22,RAP1A,RBM15,REG4,RHOC,RP11-165H20.1,RSBN1,SARS,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC6A17,SORT1,SPAG17,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TBX15,TMEM167B,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VTCN1,WARS2,WDR3,WDR47,WDR77,WNT2B,ZNF697 chr1 107200195 107200282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 107202193 107202293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 107204539 107204713 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 107220744 107725629 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NTNG1,PRMT6 chr1 107246701 107423800 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 10724778 10724878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASZ1 chr1 107286581 107300946 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 107286581 107300946 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 107301220 107301320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 107311380 107313956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 107349442 107543066 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 107369447 107375452 Loss Normal 244K array 17666407 NOT_FOUND chr1 107380413 107380513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10738084 10855421 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CASZ1 chr1 10738084 10989413 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CASZ1 chr1 107395591 107665249 Gain and loss Pancreatic cancer SNP array 17952125 PRMT6 chr1 107400824 107403439 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 107400824 107403439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 107400824 107403439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 107423801 107727400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTNG1,PRMT6 chr1 107451880 107451980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 107484152 107827603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NTNG1,PRMT6 chr1 107484152 107827603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTNG1,PRMT6 chr1 107484152 107827603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTNG1,PRMT6 chr1 107570634 107570734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 107598998 107599098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 107618378 107622430 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 107630201 107630296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 10766626 10766715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASZ1 chr1 1076681 1076886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC254099 chr1 107689439 121186686 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADAM30,ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM72B,FCGR1B,FNDC7,GDAP2,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HENMT1,HIPK1,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LINC00622,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR197,MIR320B1,MIR4256,MIR942,MOV10,MYBPHL,NBPF4,NBPF6,NBPF7,NGF,NHLH2,NOTCH2,NRAS,NTNG1,OLFML3,OVGP1,PGCP1,PHGDH,PHTF1,PPM1J,PROK1,PRPF38B,PSMA5,PSRC1,PTGFRN,PTPN22,RAP1A,RBM15,REG4,RHOC,RP11-165H20.1,RSBN1,SARS,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC6A17,SORT1,SPAG17,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TBX15,TMEM167B,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VTCN1,WARS2,WDR3,WDR47,WDR77,WNT2B,ZNF697 chr1 107690478 107690578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTNG1 chr1 107716342 144004701 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ADAM30,ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,ANKRD20A12P,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EMBP1,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM72B,FAM72D,FCGR1B,FLJ39739,FNDC7,GDAP2,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HENMT1,HIPK1,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LINC00622,LOC100129269,LOC100130000,LOC100286793,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR197,MIR320B1,MIR4256,MIR942,MOV10,MYBPHL,NBPF4,NBPF6,NBPF7,NGF,NHLH2,NOTCH2,NRAS,NTNG1,OLFML3,OVGP1,PGCP1,PHGDH,PHTF1,PPIAL4G,PPM1J,PROK1,PRPF38B,PSMA5,PSRC1,PTGFRN,PTPN22,RAP1A,RBM15,REG4,RHOC,RP11-165H20.1,RSBN1,SARS,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC6A17,SORT1,SPAG17,SRG7,SRGAP2B,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TBX15,TMEM167B,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VTCN1,WARS2,WDR3,WDR47,WDR77,WNT2B,ZNF697 chr1 107727401 108284000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTNG1,VAV3 chr1 107745597 107745697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTNG1 chr1 107759867 107760112 Gain and loss Pancreatic cancer SNP array 17952125 NTNG1 chr1 107810519 107810609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTNG1 chr1 107819613 107819713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTNG1 chr1 107820281 108327227 LOH Normal High-resolution SNP genotyping 21211785 NTNG1,VAV3 chr1 107825114 107825679 Gain and loss Pancreatic cancer SNP array 17952125 NTNG1 chr1 107825832 108219580 Gain and loss Pancreatic cancer SNP array 17952125 NTNG1,VAV3 chr1 107836108 107836198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTNG1 chr1 107849348 107849593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTNG1 chr1 107866801 107866860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTNG1 chr1 107872394 108385158 LOH Normal High-resolution SNP genotyping 21211785 NTNG1,VAV3 chr1 107914984 107915075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTNG1 chr1 107915304 108309068 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NTNG1,VAV3 chr1 107915304 108309068 Gain or loss Breast cancer - 20668451 NTNG1,VAV3 chr1 107915304 108309068 Gain or loss Cancer - 20668451 NTNG1,VAV3 chr1 107915304 108309068 Gain or loss Lung cancer - 20668451 NTNG1,VAV3 chr1 107915304 108309068 Gain or loss Ovarian cancer - 20668451 NTNG1,VAV3 chr1 107915304 108309068 Gain or loss Pancreas cancer - 20668451 NTNG1,VAV3 chr1 107915304 108309068 Gain or loss Prostate cancer - 20668451 NTNG1,VAV3 chr1 107915307 108309068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTNG1,VAV3 chr1 107915307 108309068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTNG1,VAV3 chr1 107928934 108839709 Insert Cancer ultra-high resolution array CGH 21272361 NBPF4,NTNG1,SLC25A24,VAV3,VAV3-AS1 chr1 107965934 107966034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTNG1 chr1 108023099 108023173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTNG1 chr1 10807578 10807653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASZ1 chr1 108101664 108122436 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VAV3 chr1 108105015 108110680 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 108131879 109540703 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKNAD1,CLCC1,FAM102B,FNDC7,GPSM2,HENMT1,NBPF4,NBPF6,PRPF38B,SLC25A24,SRG7,STXBP3,VAV3,VAV3-AS1,WDR47 chr1 108142297 108142466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAV3 chr1 108142469 108142693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAV3 chr1 108189647 108190624 Gain Normal 244K array 17666407 VAV3 chr1 108204495 108207007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VAV3 chr1 108204507 108206926 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 VAV3 chr1 108265035 108265135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAV3 chr1 108284001 108764700 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A24,VAV3,VAV3-AS1 chr1 108330916 108808720 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBPF4,SLC25A24,VAV3,VAV3-AS1 chr1 108340553 108340643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAV3 chr1 108389491 108454940 Gain and loss Pancreatic cancer SNP array 17952125 VAV3 chr1 108398809 108769058 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NBPF4,SLC25A24,VAV3,VAV3-AS1 chr1 108410668 108699273 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC25A24,VAV3,VAV3-AS1 chr1 108410668 108808720 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBPF4,SLC25A24,VAV3,VAV3-AS1 chr1 108416277 108416372 Loss Normal 244K array 17666407 VAV3 chr1 108417633 108417733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAV3 chr1 108424591 108452296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VAV3 chr1 108426662 108436278 Gain Normal 244K array 17666407 VAV3 chr1 108439448 108451547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VAV3 chr1 108443805 108449225 Gain Normal 244K array 17666407 VAV3 chr1 108477129 108498715 Gain and loss Pancreatic cancer SNP array 17952125 VAV3 chr1 108478972 108544497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VAV3,VAV3-AS1 chr1 108478972 108544497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAV3,VAV3-AS1 chr1 108504425 108808720 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBPF4,SLC25A24,VAV3,VAV3-AS1 chr1 108504425 108808720 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBPF4,SLC25A24,VAV3,VAV3-AS1 chr1 108511895 108511969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAV3-AS1 chr1 108512791 108702882 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 SLC25A24,VAV3-AS1 chr1 108525804 109583636 LOH Normal High-resolution SNP genotyping 21211785 AKNAD1,CLCC1,FAM102B,FNDC7,GPSM2,HENMT1,NBPF4,NBPF6,PRPF38B,SLC25A24,SRG7,STXBP3,VAV3-AS1,WDR47 chr1 108528959 108539469 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 VAV3-AS1 chr1 108528959 108539469 Total allelic loss Normal High-resolution SNP genotyping 21211785 VAV3-AS1 chr1 108532510 108541445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 VAV3-AS1 chr1 108532510 108541445 Total allelic loss Normal High-resolution SNP genotyping 21211785 VAV3-AS1 chr1 108533839 108539838 Deletion Normal TaqMan assays 20972442 VAV3-AS1 chr1 108534846 108538814 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 VAV3-AS1 chr1 108534847 108538775 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 VAV3-AS1 chr1 108534848 108537325 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 VAV3-AS1 chr1 108534848 108538756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VAV3-AS1 chr1 108534878 108538928 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 VAV3-AS1 chr1 108535758 108539019 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 VAV3-AS1 chr1 108535758 108539019 Loss Normal Birdsuite, version 1.5.2 22087296 VAV3-AS1 chr1 108561994 108898831 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NBPF4,SLC25A24 chr1 108567850 108588187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 108580145 108655448 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 108592086 108704710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A24 chr1 108617284 108680272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A24 chr1 108621282 108723196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A24 chr1 108630504 108640564 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 10865886 10865925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 108662350 108662402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 108701980 108702080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A24 chr1 108705266 108710210 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A24 chr1 108716192 108802432 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NBPF4,SLC25A24 chr1 108717327 108717411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A24 chr1 108719983 108754952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A24 chr1 108719983 108754952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A24 chr1 108727881 108765440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A24 chr1 108729983 108787720 Loss Normal Birdsuite, version 1.5.2 22087296 NBPF4,SLC25A24 chr1 108764701 109321300 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM102B,FNDC7,HENMT1,NBPF4,NBPF6,PRPF38B,STXBP3 chr1 10878408 10879284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 108794714 108814783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 108815093 108889808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 108846503 108847600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 108852719 108853390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 108858000 118458000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADORA3,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EPS8L3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FNDC7,GDAP2,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,HIPK1,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR197,MIR320B1,MIR4256,MIR942,MOV10,MYBPHL,NBPF6,NGF,NHLH2,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PROK1,PRPF38B,PSMA5,PSRC1,PTGFRN,PTPN22,RAP1A,RBM15,RHOC,RP11-165H20.1,RSBN1,SARS,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC6A17,SORT1,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TMEM167B,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VTCN1,WDR47,WDR77,WNT2B chr1 108876316 109881144 LOH Normal High-resolution SNP genotyping 21211785 AKNAD1,C1orf194,CELSR2,CLCC1,FAM102B,FNDC7,GPSM2,HENMT1,KIAA1324,MYBPHL,NBPF6,PRPF38B,PSRC1,SARS,SCARNA2,SORT1,SRG7,STXBP3,TAF13,TMEM167B,WDR47 chr1 108899170 108899270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 108902966 108916184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 108904234 108989045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 108904234 108989045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 108932546 111063863 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CELSR2,CLCC1,CSF1,CYB561D1,CYMP,EPS8L3,FAM102B,FAM40A,FNDC7,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,KCNA10,KCNC4,KIAA1324,LAMTOR5,LOC440600,MIR197,MYBPHL,NBPF6,PROK1,PRPF38B,PSMA5,PSRC1,RBM15,SARS,SCARNA2,SLC16A4,SLC6A17,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,WDR47 chr1 108947005 108956462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 108977028 108997407 Gain and loss Pancreatic cancer SNP array 17952125 NBPF6 chr1 108992435 109019338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF6 chr1 108992435 109019338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF6 chr1 109001350 109064190 Gain and loss Pancreatic cancer SNP array 17952125 NBPF6 chr1 109031433 109313423 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 FAM102B,FNDC7,HENMT1,PRPF38B,STXBP3 chr1 109036469 109056124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109036469 109056124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109052741 109095285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 109061922 109086888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109061922 109086888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109070558 109112892 Gain and loss Pancreatic cancer SNP array 17952125 FAM102B chr1 109090808 109153662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM102B chr1 109090808 109153662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM102B chr1 109094303 109094403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 109110991 109111729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM102B chr1 109116339 109116457 Amplification Medulloblastoma Illumina SNP arrays 21163964 FAM102B chr1 109131869 109185060 Gain and loss Pancreatic cancer SNP array 17952125 FAM102B chr1 109160055 109201239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM102B,HENMT1 chr1 109160055 109201239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM102B,HENMT1 chr1 1091611 1091749 Loss Normal 244K array 17666407 NOT_FOUND chr1 10917641 11578174 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL7,C1orf127,EXOSC10,MASP2,MTOR,MTOR-AS1,PTCHD2,SRM,TARDBP,UBIAD1 chr1 109179833 109180141 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 FAM102B chr1 109184172 109218121 Gain and loss Pancreatic cancer SNP array 17952125 HENMT1 chr1 109194253 109194520 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 HENMT1 chr1 109201362 109202667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HENMT1 chr1 109201362 109202667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HENMT1 chr1 109219495 109274567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNDC7,PRPF38B chr1 109219495 109274567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC7,PRPF38B chr1 109224882 109296777 Gain and loss Pancreatic cancer SNP array 17952125 FNDC7,PRPF38B,STXBP3 chr1 1092347 1092441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109246987 109247385 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 10925109 10925196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 109273653 109307634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNDC7,STXBP3 chr1 109273653 109307634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC7,STXBP3 chr1 109280679 109290701 Loss Normal 244K array 17666407 FNDC7,STXBP3 chr1 10929120 10946877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 10929120 10946877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 10929501 10932500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 1093106 1093195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109313423 109623612 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKNAD1,CLCC1,GPSM2,SRG7,STXBP3,TAF13,WDR47 chr1 109314358 109386258 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 AKNAD1,STXBP3 chr1 109314359 109386258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKNAD1,STXBP3 chr1 109314359 109386258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKNAD1,STXBP3 chr1 109319187 109330611 Gain and loss Pancreatic cancer SNP array 17952125 STXBP3 chr1 109321301 110662200 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHCYL1,AKNAD1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CELSR2,CLCC1,CSF1,CYB561D1,EPS8L3,FAM40A,GNAI3,GNAT2,GPR61,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,KIAA1324,MIR197,MYBPHL,PSMA5,PSRC1,SARS,SCARNA2,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,UBL4B,WDR47 chr1 10932501 11025500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf127 chr1 109331108 109331390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP3 chr1 1093363 1974320 LOH Normal High-resolution SNP genotyping 21211785 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf233,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,GABRD,GLTPD1,GNB1,KIAA1751,LOC148413,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,NADK,PUSL1,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 chr1 109336399 109337022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP3 chr1 109336399 109337022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP3 chr1 109345416 109351594 Gain and loss Pancreatic cancer SNP array 17952125 STXBP3 chr1 109360692 109367331 Gain and loss Pancreatic cancer SNP array 17952125 AKNAD1 chr1 109368575 109461639 Gain and loss Pancreatic cancer SNP array 17952125 AKNAD1,GPSM2,SRG7 chr1 109374211 109374464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKNAD1 chr1 109374784 109377082 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AKNAD1 chr1 109381534 109381634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKNAD1 chr1 109390971 109391628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKNAD1 chr1 109401356 109466760 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 GPSM2 chr1 109404120 109404813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 10940799 10958524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 109408521 109420147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPSM2 chr1 109408521 109420147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPSM2 chr1 1094248 1094330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109432406 109441076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPSM2 chr1 109432406 109441076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPSM2 chr1 109447257 109448911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPSM2 chr1 109447582 109448911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPSM2 chr1 109450117 109457976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPSM2 chr1 109450117 109457976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPSM2 chr1 109458056 109550924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLCC1,GPSM2,WDR47 chr1 109458056 109550924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCC1,GPSM2,WDR47 chr1 109466248 109466348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPSM2 chr1 109468582 109492827 Gain and loss Pancreatic cancer SNP array 17952125 CLCC1,GPSM2 chr1 10949523 11634124 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL7,C1orf127,EXOSC10,MASP2,MTOR,MTOR-AS1,PTCHD2,SRM,TARDBP,UBIAD1 chr1 10949523 11862852 LOH Normal High-resolution SNP genotyping 21211785 AGTRAP,ANGPTL7,C1orf127,DRAXIN,EXOSC10,FBXO2,FBXO44,FBXO6,MAD2L2,MASP2,MTHFR,MTOR,MTOR-AS1,PTCHD2,SRM,TARDBP,UBIAD1 chr1 10949523 11863462 LOH Normal High-resolution SNP genotyping 21211785 AGTRAP,ANGPTL7,C1orf127,DRAXIN,EXOSC10,FBXO2,FBXO44,FBXO6,MAD2L2,MASP2,MTHFR,MTOR,MTOR-AS1,PTCHD2,SRM,TARDBP,UBIAD1 chr1 109504683 109530414 Gain and loss Pancreatic cancer SNP array 17952125 CLCC1,WDR47 chr1 109534232 109537850 Gain and loss Pancreatic cancer SNP array 17952125 WDR47 chr1 109547029 109561705 Gain and loss Pancreatic cancer SNP array 17952125 WDR47 chr1 1095521 1467046 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 chr1 109558063 109582308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR47 chr1 109558063 109582308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR47 chr1 109568465 109652615 Gain and loss Pancreatic cancer SNP array 17952125 C1orf194,SCARNA2,TAF13,TMEM167B,WDR47 chr1 109583001 109592500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDR47 chr1 109592501 109619000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TAF13 chr1 109592662 109592769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 109593546 110105869 LOH Normal High-resolution SNP genotyping 21211785 AMIGO1,ATXN7L2,C1orf194,CELSR2,CYB561D1,GNAI3,GPR61,KIAA1324,MYBPHL,PSMA5,PSRC1,SARS,SCARNA2,SORT1,SYPL2,TAF13,TMEM167B chr1 109594163 109619901 Copy number Lung cancer - 20668451 TAF13 chr1 109594163 109619901 Gain or loss Breast cancer - 20668451 TAF13 chr1 109594163 109619901 Gain or loss Cancer - 20668451 TAF13 chr1 109594163 109619901 Gain or loss Lung cancer - 20668451 TAF13 chr1 109594163 109619901 Gain or loss Ovarian cancer - 20668451 TAF13 chr1 109594163 109619901 Gain or loss Pancreas cancer - 20668451 TAF13 chr1 109594163 109619901 Gain or loss Prostate cancer - 20668451 TAF13 chr1 109594164 109619901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF13 chr1 109594164 109619901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF13 chr1 109623612 110159393 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AMIGO1,ATXN7L2,C1orf194,CELSR2,CYB561D1,GNAI3,GNAT2,GPR61,KIAA1324,MIR197,MYBPHL,PSMA5,PSRC1,SARS,SCARNA2,SORT1,SYPL2,TMEM167B chr1 109623699 109627331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109623699 109627331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109632386 109632637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 109636509 109651136 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 C1orf194,SCARNA2,TMEM167B chr1 109636510 109651186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf194,SCARNA2,TMEM167B chr1 109636510 109651186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf194,SCARNA2,TMEM167B chr1 109638619 110802790 LOH Normal High-resolution SNP genotyping 21211785 AHCYL1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CELSR2,CSF1,CYB561D1,EPS8L3,FAM40A,GNAI3,GNAT2,GPR61,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,KCNC4,KIAA1324,MIR197,MYBPHL,PSMA5,PSRC1,SARS,SCARNA2,SLC6A17,SORT1,SYPL2,TMEM167B,UBL4B chr1 109641159 110802790 LOH Normal High-resolution SNP genotyping 21211785 AHCYL1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CELSR2,CSF1,CYB561D1,EPS8L3,FAM40A,GNAI3,GNAT2,GPR61,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,KCNC4,KIAA1324,MIR197,MYBPHL,PSMA5,PSRC1,SARS,SCARNA2,SLC6A17,SORT1,SYPL2,UBL4B chr1 109650225 110802790 LOH Normal High-resolution SNP genotyping 21211785 AHCYL1,ALX3,AMIGO1,AMPD2,ATXN7L2,C1orf194,CELSR2,CSF1,CYB561D1,EPS8L3,FAM40A,GNAI3,GNAT2,GPR61,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,KCNC4,KIAA1324,MIR197,MYBPHL,PSMA5,PSRC1,SARS,SLC6A17,SORT1,SYPL2,UBL4B chr1 109653715 109742086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf194,KIAA1324 chr1 109653715 109742086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf194,KIAA1324 chr1 109656520 109681079 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1324 chr1 109662726 110421733 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AMIGO1,AMPD2,ATXN7L2,CELSR2,CYB561D1,EPS8L3,GNAI3,GNAT2,GPR61,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,KIAA1324,MIR197,MYBPHL,PSMA5,PSRC1,SARS,SORT1,SYPL2 chr1 109721142 109734212 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1324 chr1 10973429 10974441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109738603 109747396 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1324 chr1 109745994 109770560 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 KIAA1324,SARS chr1 109745997 109770589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1324,SARS chr1 109748763 109755097 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1324 chr1 109751071 109751171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 109761489 109764346 Gain and loss Pancreatic cancer SNP array 17952125 SARS chr1 109773484 109773572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SARS chr1 109793404 109793470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELSR2 chr1 109794551 109800497 Gain and loss Pancreatic cancer SNP array 17952125 CELSR2 chr1 109800108 109800208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELSR2 chr1 109803343 109849017 Gain and loss Pancreatic cancer SNP array 17952125 CELSR2,MYBPHL,PSRC1 chr1 109810623 109826287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELSR2,PSRC1 chr1 109810623 109826287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELSR2,PSRC1 chr1 109817255 110344608 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMIGO1,AMPD2,ATXN7L2,CELSR2,CYB561D1,EPS8L3,GNAI3,GNAT2,GPR61,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,MIR197,MYBPHL,PSMA5,PSRC1,SORT1,SYPL2 chr1 10982506 10982589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 109827001 109893000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYBPHL,SORT1 chr1 10982702 10984893 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 109828084 109836949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYBPHL chr1 109828084 109836949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYBPHL chr1 1098299 1104798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR200A,MIR200B,MIR429 chr1 109838244 109844585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYBPHL chr1 109846198 109846304 Gain and loss Pancreatic cancer SNP array 17952125 MYBPHL chr1 109850970 109853883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORT1 chr1 109850970 109853883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORT1 chr1 10985211 10986120 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 109853557 109853631 Gain and loss Pancreatic cancer SNP array 17952125 SORT1 chr1 109857817 109867747 Gain and loss Pancreatic cancer SNP array 17952125 SORT1 chr1 109864960 109909965 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORT1 chr1 109874501 109886798 Gain and loss Pancreatic cancer SNP array 17952125 SORT1 chr1 109881131 109904643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORT1 chr1 109884017 109889978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORT1 chr1 109884017 109889978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORT1 chr1 109890270 109917005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORT1 chr1 109892824 109938498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORT1 chr1 109892824 109938498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORT1 chr1 109893302 109910480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORT1 chr1 109896705 109912011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORT1 chr1 109899291 109900546 Loss or gain Normal 244K array 17666407 SORT1 chr1 109910745 109920166 Gain and loss Pancreatic cancer SNP array 17952125 SORT1 chr1 1099146 1123178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR200A,MIR200B,MIR429,TTLL10 chr1 1099146 1123178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR200A,MIR200B,MIR429,TTLL10 chr1 109922733 109929947 Gain and loss Pancreatic cancer SNP array 17952125 SORT1 chr1 109928961 109967783 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMA5,SORT1 chr1 109931276 109967844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMA5,SORT1 chr1 109932002 109972700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMA5,SORT1 chr1 109933191 109970146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMA5,SORT1 chr1 109933817 109941498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORT1 chr1 109935679 109935785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORT1 chr1 109936039 109964923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMA5,SORT1 chr1 109936565 109965462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMA5,SORT1 chr1 109936829 109968284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMA5,SORT1 chr1 10994187 10994268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 109942484 109948409 Gain and loss Pancreatic cancer SNP array 17952125 PSMA5 chr1 109943036 109943116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMA5 chr1 109943568 109951976 Gain Normal 244K array 17666407 PSMA5 chr1 109946309 109969525 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMA5 chr1 109947413 109957228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMA5 chr1 109947413 109957228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMA5 chr1 10995266 11008133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf127 chr1 10995266 11008133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf127 chr1 109959895 109964215 Gain and loss Pancreatic cancer SNP array 17952125 PSMA5 chr1 109963982 109976198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMA5 chr1 109963982 109976198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMA5 chr1 109964001 109976000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PSMA5 chr1 109966907 109972930 Gain and loss Pancreatic cancer SNP array 17952125 PSMA5 chr1 109976001 110102500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMIGO1,ATXN7L2,CYB561D1,GNAI3,GPR61,SYPL2 chr1 109988086 109990229 Deletion Normal - 21790672 NOT_FOUND chr1 109988369 110060631 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AMIGO1,ATXN7L2,CYB561D1,SYPL2 chr1 109988386 109989689 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 109988596 109995702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 109988657 109993111 Deletion Non-syndromic sensorineural hearing loss Targeted BAC,Agilent24M 19587683 NOT_FOUND chr1 109995515 109996238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110000000 163800000 Gain Cancer array-based techniques 21183584 ACP6,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADORA3,AHCYL1,AIM2,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP8B2,ATXN7L2,B4GALT3,BCAN,BCAS2,BCL2L15,BCL9,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf162,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf88,C2CD4D,CA14,CADM3,CAPZA1,CASQ1,CASQ2,CCDC19,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD48,CD53,CD58,CD5L,CD84,CDC42SE1,CELF3,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CSDE1,CSF1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYCSP52,CYMP,DAP3,DARC,DCAF8,DCLRE1B,DCST1,DCST2,DDR2,DDX20,DEDD,DENND2C,DENND2D,DENND4B,DPM3,DRAM2,DUSP12,DUSP23,ECM1,EFNA1,EFNA3,EFNA4,EMBP1,ENSA,EPS8L3,ETV3,ETV3L,F11R,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM63A,FAM72B,FAM72D,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GDAP2,GJA5,GJA8,GNAI3,GNAT2,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR61,GPR89A,GPR89B,GPR89C,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMGCS2,HORMAD1,HRNR,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IFI16,IGSF3,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LAMTOR5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100129269,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100506343,LOC388692,LOC440600,LOC643355,LOC643441,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRIF1,LRIG2,LRRC71,LY9,LYSMD1,MAB21L3,MAGI3,MAN1A2,MCL1,MEF2D,MEX3A,MIR190B,MIR197,MIR320B1,MIR4256,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MIR942,MLLT11,MNDA,MOV10,MPZ,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCSTN,NDUFS2,NES,NGF,NHLH1,NHLH2,NIT1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR1I3,NRAS,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OLFML3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PAQR6,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PHGDH,PHTF1,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PRCC,PRKAB2,PROK1,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PTGFRN,PTPN22,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAP1A,RBM15,RBM8A,REG4,RFX5,RGS4,RGS5,RHBG,RHOC,RIIAD1,RIT1,RNF115,RORC,RP11-165H20.1,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RSBN1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D1B,SH2D2A,SHC1,SHE,SIKE1,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC22A15,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC6A17,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPAG17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,ST7L,SUMO1P3,SV2A,SYCP1,SYPL2,SYT11,SYT6,TAGLN2,TARS2,TBX15,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM33,TRIM45,TRIM46,TSACC,TSHB,TSPAN2,TSTD1,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBL4B,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL1,VANGL2,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR77,WNT2B,YY1AP1,ZBTB7B,ZNF687,ZNF697 chr1 110000000 163800000 Gain or loss Systemic lupus erythematosus References 21956041 ACP6,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADORA3,AHCYL1,AIM2,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP8B2,ATXN7L2,B4GALT3,BCAN,BCAS2,BCL2L15,BCL9,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf162,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf88,C2CD4D,CA14,CADM3,CAPZA1,CASQ1,CASQ2,CCDC19,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD48,CD53,CD58,CD5L,CD84,CDC42SE1,CELF3,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CSDE1,CSF1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYCSP52,CYMP,DAP3,DARC,DCAF8,DCLRE1B,DCST1,DCST2,DDR2,DDX20,DEDD,DENND2C,DENND2D,DENND4B,DPM3,DRAM2,DUSP12,DUSP23,ECM1,EFNA1,EFNA3,EFNA4,EMBP1,ENSA,EPS8L3,ETV3,ETV3L,F11R,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM63A,FAM72B,FAM72D,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GDAP2,GJA5,GJA8,GNAI3,GNAT2,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR61,GPR89A,GPR89B,GPR89C,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMGCS2,HORMAD1,HRNR,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IFI16,IGSF3,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LAMTOR5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100129269,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100506343,LOC388692,LOC440600,LOC643355,LOC643441,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRIF1,LRIG2,LRRC71,LY9,LYSMD1,MAB21L3,MAGI3,MAN1A2,MCL1,MEF2D,MEX3A,MIR190B,MIR197,MIR320B1,MIR4256,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MIR942,MLLT11,MNDA,MOV10,MPZ,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCSTN,NDUFS2,NES,NGF,NHLH1,NHLH2,NIT1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR1I3,NRAS,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OLFML3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PAQR6,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PHGDH,PHTF1,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PRCC,PRKAB2,PROK1,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PTGFRN,PTPN22,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAP1A,RBM15,RBM8A,REG4,RFX5,RGS4,RGS5,RHBG,RHOC,RIIAD1,RIT1,RNF115,RORC,RP11-165H20.1,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RSBN1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D1B,SH2D2A,SHC1,SHE,SIKE1,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC22A15,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC6A17,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPAG17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,ST7L,SUMO1P3,SV2A,SYCP1,SYPL2,SYT11,SYT6,TAGLN2,TARS2,TBX15,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM33,TRIM45,TRIM46,TSACC,TSHB,TSPAN2,TSTD1,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBL4B,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL1,VANGL2,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR77,WNT2B,YY1AP1,ZBTB7B,ZNF687,ZNF697 chr1 110000000 163800000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ACP6,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADORA3,AHCYL1,AIM2,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP8B2,ATXN7L2,B4GALT3,BCAN,BCAS2,BCL2L15,BCL9,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf162,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf88,C2CD4D,CA14,CADM3,CAPZA1,CASQ1,CASQ2,CCDC19,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD48,CD53,CD58,CD5L,CD84,CDC42SE1,CELF3,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CSDE1,CSF1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYCSP52,CYMP,DAP3,DARC,DCAF8,DCLRE1B,DCST1,DCST2,DDR2,DDX20,DEDD,DENND2C,DENND2D,DENND4B,DPM3,DRAM2,DUSP12,DUSP23,ECM1,EFNA1,EFNA3,EFNA4,EMBP1,ENSA,EPS8L3,ETV3,ETV3L,F11R,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM63A,FAM72B,FAM72D,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GDAP2,GJA5,GJA8,GNAI3,GNAT2,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR61,GPR89A,GPR89B,GPR89C,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMGCS2,HORMAD1,HRNR,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IFI16,IGSF3,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LAMTOR5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100129269,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100506343,LOC388692,LOC440600,LOC643355,LOC643441,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRIF1,LRIG2,LRRC71,LY9,LYSMD1,MAB21L3,MAGI3,MAN1A2,MCL1,MEF2D,MEX3A,MIR190B,MIR197,MIR320B1,MIR4256,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MIR942,MLLT11,MNDA,MOV10,MPZ,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCSTN,NDUFS2,NES,NGF,NHLH1,NHLH2,NIT1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR1I3,NRAS,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OLFML3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PAQR6,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PHGDH,PHTF1,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PRCC,PRKAB2,PROK1,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PTGFRN,PTPN22,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAP1A,RBM15,RBM8A,REG4,RFX5,RGS4,RGS5,RHBG,RHOC,RIIAD1,RIT1,RNF115,RORC,RP11-165H20.1,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RSBN1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D1B,SH2D2A,SHC1,SHE,SIKE1,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC22A15,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC6A17,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPAG17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,ST7L,SUMO1P3,SV2A,SYCP1,SYPL2,SYT11,SYT6,TAGLN2,TARS2,TBX15,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM33,TRIM45,TRIM46,TSACC,TSHB,TSPAN2,TSTD1,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBL4B,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL1,VANGL2,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR77,WNT2B,YY1AP1,ZBTB7B,ZNF687,ZNF697 chr1 110000000 184000000 Gain Multiple myeloma CGH, FISH 16461302 ABL2,ACBD6,ACP6,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADORA3,AHCYL1,AIM2,AKR7A2P1,ALDH9A1,ALX3,AMIGO1,AMPD1,AMPD2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP5F1,ATP8B2,ATXN7L2,AXDND1,B4GALT3,BCAN,BCAS2,BCL2L15,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf162,C1orf189,C1orf192,C1orf204,C1orf220,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf88,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CAPZA1,CASQ1,CASQ2,CCDC19,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD53,CD58,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSDE1,CSF1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYCSP52,CYMP,DAP3,DARC,DARS2,DCAF6,DCAF8,DCLRE1B,DCST1,DCST2,DDR2,DDX20,DEDD,DENND2C,DENND2D,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DRAM2,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,EMBP1,ENSA,EPS8L3,ETV3,ETV3L,F11R,F5,FAM163A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM46C,FAM5B,FAM63A,FAM72B,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GDAP2,GJA5,GJA8,GLT25D2,GLUL,GM140,GNAI3,GNAT2,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR61,GPR89A,GPR89B,GPR89C,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMGCS2,HORMAD1,HRNR,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF3,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100129269,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440600,LOC440700,LOC643355,LOC643441,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRIF1,LRIG2,LRRC52,LRRC71,LY9,LYSMD1,MAB21L3,MAEL,MAGI3,MAN1A2,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR197,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR320B1,MIR3658,MIR4256,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MLLT11,MNDA,MOV10,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NES,NGF,NHLH1,NHLH2,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NRAS,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OLFML3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PHGDH,PHTF1,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PRCC,PRDX6,PRKAB2,PROK1,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGFRN,PTPN22,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RAP1A,RASAL2,RASAL2-AS1,RBM15,RBM8A,RC3H1,RCSD1,REG4,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RHOC,RIIAD1,RIT1,RNASEL,RNF115,RORC,RP11-165H20.1,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RSBN1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SIKE1,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC22A15,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC6A17,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPAG17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,ST7L,STX6,SUCO,SUMO1P3,SV2A,SYCP1,SYPL2,SYT11,SYT6,TADA1,TAGLN2,TARS2,TBX15,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRIM33,TRIM45,TRIM46,TSACC,TSHB,TSPAN2,TSTD1,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBL4B,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL1,VANGL2,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR77,WNT2B,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687,ZNF697 chr1 110000226 110009647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYPL2 chr1 110000226 110009647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYPL2 chr11 100017916 100018195 Gain and loss Pancreatic cancer SNP array 17952125 CNTN5 chr11 100017916 100018195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN5 chr11 100017919 100018214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN5 chr11 100042451 100042903 Gain and loss Pancreatic cancer SNP array 17952125 CNTN5 chr11 100042939 115781817 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-674K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,ANGPTL5,ANKK1,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CLDN25,CNTN5,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC283143,LOC643733,LOC643923,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PDGFD,PGR,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRPC6,TTC12,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 100045570 103051410 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANGPTL5,ARHGAP42,BIRC2,BIRC3,C11orf70,CNTN5,DCUN1D5,DYNC2H1,KIAA1377,LOC101054525,MIR3920,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,PGR,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1 chr1 110004744 110018606 Gain and loss Pancreatic cancer SNP array 17952125 SYPL2 chr11 100063620 100171107 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNTN5 chr11 100063620 100312272 Gain and loss Pancreatic cancer SNP array 17952125 CNTN5 chr1 110007834 110007914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1000998 1007194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr1 110010000 112790000 Loss Breast cancer aCGH 21509527 ADORA3,AHCYL1,ALX3,AMIGO1,AMPD2,ATP5F1,ATXN7L2,C1orf162,C1orf88,CD53,CEPT1,CHI3L2,CHIA,CSF1,CYB561D1,CYMP,DDX20,DENND2D,DRAM2,EPS8L3,FAM212B,FAM40A,GNAI3,GNAT2,GPR61,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,LAMTOR5,LOC100129269,LOC100506343,LOC440600,LOC643355,LRIF1,MIR197,OVGP1,PGCP1,PROK1,RAP1A,RBM15,RP11-165H20.1,SLC16A4,SLC6A17,SYPL2,UBL4B,WDR77 chr11 100109152 100109196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr11 100111369 100111469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr1 110012194 110053694 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMIGO1,ATXN7L2,CYB561D1,SYPL2 chr1 110012194 110053694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMIGO1,ATXN7L2,CYB561D1,SYPL2 chr1 110016535 110046454 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ATXN7L2,CYB561D1,SYPL2 chr11 100166501 100199026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTN5 chr1 110017689 110060631 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 AMIGO1,ATXN7L2,CYB561D1,SYPL2 chr11 100177587 100177687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr11 100181679 100182904 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN5 chr11 100191408 100777480 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-705K arrays 21546498 ARHGAP42,CNTN5 chr11 100215571 100215887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN5 chr11 100215571 100215905 Gain and loss Pancreatic cancer SNP array 17952125 CNTN5 chr11 100215572 100215804 Gain and loss Pancreatic cancer SNP array 17952125 CNTN5 chr1 110022113 110041701 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATXN7L2,CYB561D1,SYPL2 chr11 1002220 1009011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr1 110023238 110041689 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATXN7L2,CYB561D1,SYPL2 chr1 110023238 110044464 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATXN7L2,CYB561D1,SYPL2 chr1 110025099 110025182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 110025895 110044464 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATXN7L2,CYB561D1 chr1 110025895 110054653 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AMIGO1,ATXN7L2,CYB561D1 chr1 110025907 110034497 Loss Normal Birdsuite, version 1.5.2 22087296 ATXN7L2 chr1 110025907 110044476 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ATXN7L2,CYB561D1 chr1 110025907 110047804 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATXN7L2,CYB561D1 chr1 110025907 110051759 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AMIGO1,ATXN7L2,CYB561D1 chr1 110025950 110047804 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATXN7L2,CYB561D1 chr1 110025950 110070351 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AMIGO1,ATXN7L2,CYB561D1 chr1 110025950 110071377 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AMIGO1,ATXN7L2,CYB561D1 chr1 110027165 110047804 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATXN7L2,CYB561D1 chr1 110027165 110070351 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AMIGO1,ATXN7L2,CYB561D1 chr1 110027839 110032838 Loss Normal TaqMan assays 20972442 ATXN7L2 chr1 110027889 110044464 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATXN7L2,CYB561D1 chr11 1002822 1008450 Gain and loss Pancreatic cancer SNP array 17952125 AP2A2 chr11 1002824 1026706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP2A2,MUC6 chr11 1002824 1026706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP2A2,MUC6 chr11 100289393 100364810 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 100289393 100364810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110029012 110047636 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ATXN7L2,CYB561D1 chr1 110029027 110046508 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ATXN7L2,CYB561D1 chr11 100299542 118463179 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,ACAT1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ATM,ATP5L,BACE1,BACE1-AS,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100652768,LOC101054525,LOC283143,LOC643733,LOC643923,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PAFAH1B2,PCSK7,PDGFD,PGR,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,RNF214,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLN,TAGLN,TEX12,TIMM8B,TMEM123,TMEM133,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRPC6,TTC12,TTC36,UBE4A,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 100310215 100310319 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 100310215 100310319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110031964 110037890 Copy number Ischemic vascular disease References 21846869 ATXN7L2,CYB561D1 chr1 110031964 110037890 Decreasing copy number Bladder cancer real-time PCR 20514077 ATXN7L2,CYB561D1 chr1 110031964 110037890 Deletion Normal PCR 18948376 ATXN7L2,CYB561D1 chr1 110031964 110037890 Loss,gain Rheumatoid arthritis qPCR 21445357 ATXN7L2,CYB561D1 chr1 110031965 110037890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN7L2,CYB561D1 chr1 110031965 110037890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN7L2,CYB561D1 chr11 100327824 100355283 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 100335791 100364810 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 110034485 110041689 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATXN7L2,CYB561D1 chr1 110034497 110044476 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ATXN7L2,CYB561D1 chr11 100368021 100369873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 100368021 100369873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 100368021 100369873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 100368021 100369875 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 100405564 100505754 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 100414313 100506465 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 100414313 100506465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 100414313 100506465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 100414313 100506465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110044476 110047804 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 110047804 110054653 Gain Normal Birdsuite, version 1.5.2 22087296 AMIGO1 chr11 1004975 1019656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2,MUC6 chr11 1005059 1015203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2,MUC6 chr1 110054653 110058147 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 110056388 110062411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110056388 110062411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 100568786 101394973 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP42,LOC101054525,MIR3920,PGR,TMEM133,TRPC6 chr11 1006041 1007988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr1 110060736 110061508 Gain Normal 244K array 17666407 NOT_FOUND chr11 100636454 100636586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGAP42 chr11 100645763 100645863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP42 chr11 100654097 101225143 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP42,LOC101054525,PGR,TMEM133 chr1 11006945 11019814 Gain and loss Pancreatic cancer SNP array 17952125 C1orf127 chr11 1007077 1011900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr11 100717279 100717379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP42 chr11 1007596 1007596 Copy number Prostate cancer Illumina GA II sequencer 21307934 AP2A2 chr11 100762578 100762678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP42 chr1 110078077 110085183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR61 chr1 110078077 110085183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR61 chr11 100781145 100781394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP42 chr11 100781307 100781392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP42 chr11 100781381 100781573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP42 chr11 100795204 100795527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGAP42 chr11 100815801 103042620 Amplification Esophageal cancer affymetrix genechip human mapping 258K Nsp arrays 21851588 ANGPTL5,ARHGAP42,BIRC2,BIRC3,C11orf70,DCUN1D5,DYNC2H1,KIAA1377,LOC101054525,MIR3920,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,PGR,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1 chr11 100827577 100959869 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP42,PGR,TMEM133 chr11 100827577 100959869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP42,PGR,TMEM133 chr11 100827577 100959869 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP42,PGR,TMEM133 chr11 100827577 100959869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP42,PGR,TMEM133 chr11 100828925 102320925 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ANGPTL5,ARHGAP42,BIRC2,BIRC3,C11orf70,KIAA1377,LOC101054525,MIR3920,PGR,TMEM123,TMEM133,TRPC6,YAP1 chr11 100854912 100855078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP42 chr1 11008649 11029883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf127 chr1 11008649 11029883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf127 chr11 100911650 100911784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGR chr11 100911787 100911914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGR chr11 100921983 100922312 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PGR chr1 110094225 110108093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAI3 chr1 110094225 110108093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAI3 chr1 110102501 110118500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNAI3 chr11 101039317 101085126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 101050931 101089214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 101065180 101085273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 101066624 101084977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 101069522 101082197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 101069718 101088814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 101070840 101082106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 101070998 101080468 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 101072627 101072707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101077448 101079433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 110111549 110111760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAI3 chr11 101143881 101143951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101149074 103965030 Gain Prostate cancer Array CGH 18632612 ANGPTL5,BIRC2,BIRC3,C11orf70,DCUN1D5,DDI1,DYNC2H1,KIAA1377,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,PDGFD,TMEM123,TRPC6,WTAPP1,YAP1 chr1 110117230 110117329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNAI3 chr1 110118501 110280000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMPD2,GNAI3,GNAT2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,MIR197 chr1 110121627 110134733 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GNAI3 chr1 110122000 110569000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AHCYL1,AMPD2,CSF1,EPS8L3,GNAI3,GNAT2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,MIR197 chr11 101257161 115702529 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-684K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,ANGPTL5,ANKK1,ARHGAP20,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CLDN25,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100132078,LOC100288346,LOC283143,LOC643733,LOC643923,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PDGFD,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMEM123,TMPRSS5,TRPC6,TTC12,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 101266616 101292465 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 101266616 101292465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101266616 101292465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 101266616 101292465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101290955 101377003 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TRPC6 chr11 101290956 101377003 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRPC6 chr11 101290956 101377003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC6 chr11 101290956 101377003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC6 chr11 101311176 101311263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101323968 101374533 Gain and loss Pancreatic cancer SNP array 17952125 TRPC6 chr11 101347778 101347878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPC6 chr11 1013501 1033500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MUC6 chr11 101352551 101713600 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR3920,TRPC6 chr11 101384220 101384320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPC6 chr11 101407278 102165885 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ANGPTL5,C11orf70,KIAA1377,TRPC6,YAP1 chr11 101413887 101413987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPC6 chr11 101423399 101460501 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRPC6 chr11 101423399 101460501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC6 chr11 101423399 101460501 Gain and loss Pancreatic cancer SNP array 17952125 TRPC6 chr11 101423399 101460501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC6 chr11 101425238 101425338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPC6 chr11 101433436 102134907 Amplification Cancer Affymetrix 250K Sty array 20164920 ANGPTL5,C11orf70,KIAA1377,TRPC6,YAP1 chr11 101434248 101434349 Gain and loss Pancreatic cancer SNP array 17952125 TRPC6 chr11 101434248 101434349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC6 chr11 101466054 101665638 Amplification Breast cancer FISH 17142309 NOT_FOUND chr11 101486497 101609356 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 101486497 101609356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101486497 101609356 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 101486497 101609356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101486540 101609358 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 101486540 101609358 Gain or loss Cancer - 20668451 NOT_FOUND chr11 101486540 101609358 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 101486540 101609358 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 101486540 101609358 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 101486540 101609358 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 101489838 101579560 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 101507735 101507835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 110154789 110155143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAT2 chr11 101576751 101576851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101593545 101760963 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 110159393 112330716 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADORA3,AHCYL1,ALX3,AMPD2,ATP5F1,C1orf162,C1orf88,CD53,CEPT1,CHI3L2,CHIA,CSF1,CYMP,DDX20,DENND2D,DRAM2,EPS8L3,FAM212B,FAM40A,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,LAMTOR5,LOC100129269,LOC100506343,LOC440600,LRIF1,OVGP1,PGCP1,PROK1,RAP1A,RBM15,RP11-165H20.1,SLC16A4,SLC6A17,UBL4B,WDR77 chr11 101600000 102400000 Amplification Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ANGPTL5,BIRC2,BIRC3,C11orf70,KIAA1377,MMP7,TMEM123,YAP1 chr11 101600000 102400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANGPTL5,BIRC2,BIRC3,C11orf70,KIAA1377,MMP7,TMEM123,YAP1 chr11 101600000 102400000 Loss Intracranial ependymoma matrix-based CGH 16609018 ANGPTL5,BIRC2,BIRC3,C11orf70,KIAA1377,MMP7,TMEM123,YAP1 chr11 101600000 110000000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AASDHPPT,ACAT1,ALKBH8,ANGPTL5,ATM,BIRC2,BIRC3,C11orf65,C11orf70,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,KIAA1377,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,RAB39A,SLC35F2,SLN,TMEM123,WTAPP1,YAP1,ZC3H12C chr11 101623748 101853522 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ANGPTL5,KIAA1377 chr1 110165441 110165541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMPD2 chr1 110165499 110184403 Gain and loss Pancreatic cancer SNP array 17952125 AMPD2 chr11 101663849 101663929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101666444 102430956 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANGPTL5,BIRC2,BIRC3,C11orf70,KIAA1377,MMP7,TMEM123,YAP1 chr11 101682042 101682116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101689663 101689740 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 101689663 101689770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101693403 101713675 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 101693403 101713675 Gain or loss Cancer - 20668451 NOT_FOUND chr11 101693403 101713675 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 101693403 101713675 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 101693403 101713675 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 101693403 101713675 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 101693404 101713658 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 101693404 101713658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101693404 101713658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101693404 101713674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 101704505 101704605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101706631 101706731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101723175 101754611 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 101723175 101754611 Gain or loss Cancer - 20668451 NOT_FOUND chr11 101723175 101754611 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 101723175 101754611 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 101723175 101754611 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 101723175 101754611 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 101723175 101754611 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr11 101723176 101754604 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 101723176 101754604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101723176 101754604 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 101723176 101754604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101725942 101746181 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 101740351 101781327 Deletion Medulloblastoma Illumina SNP arrays 21163964 ANGPTL5 chr11 101747908 121052310 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-676K arrays 21546498 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4693,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM123,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 101772265 101828985 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ANGPTL5,KIAA1377 chr11 101772268 101828985 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANGPTL5,KIAA1377 chr11 101772268 101828985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANGPTL5,KIAA1377 chr11 101772268 101828985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANGPTL5,KIAA1377 chr11 101772277 101828780 Gain and loss Pancreatic cancer SNP array 17952125 ANGPTL5,KIAA1377 chr11 101781262 101781362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANGPTL5 chr11 101799326 101799426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1377 chr1 110180814 110188022 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 101832951 102080964 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 C11orf70,KIAA1377,YAP1 chr11 101844288 101844353 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1377 chr11 101844288 101844353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1377 chr11 101896449 101906688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 101896450 101906688 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 101896450 101906688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101896450 101906688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 101900200 113746962 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,ACAT1,ALG9,ALKBH8,ANKK1,ARHGAP20,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CLDN25,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,IL18,KBTBD3,KDELC2,LAYN,LOC100132078,LOC100288346,LOC643733,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NCAM1,NPAT,PDGFD,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMEM123,TMPRSS5,TTC12,USP28,WTAPP1,YAP1,ZC3H12C,ZW10 chr11 101943881 101976567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf70 chr11 101952776 102001273 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C11orf70,YAP1 chr11 101952776 102001273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf70,YAP1 chr11 101952776 102001273 Gain and loss Pancreatic cancer SNP array 17952125 C11orf70,YAP1 chr11 101952776 102001273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf70,YAP1 chr11 101965806 114014262 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-678K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,ANKK1,ARHGAP20,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CLDN25,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KBTBD3,KDELC2,LAYN,LOC100132078,LOC100288346,LOC643733,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NCAM1,NPAT,PDGFD,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMEM123,TMPRSS5,TTC12,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 101974962 101975062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 101977057 101977372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 101982627 101985050 Loss Normal 244K array 17666407 YAP1 chr11 101985631 102357135 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BIRC2,BIRC3,TMEM123,YAP1 chr11 101985631 102357135 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BIRC2,BIRC3,TMEM123,YAP1 chr11 101993365 101994331 Loss Normal 244K array 17666407 YAP1 chr11 102022383 102022515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YAP1 chr11 102034343 102034443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YAP1 chr11 102067625 102081678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 YAP1 chr11 102067625 102081678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YAP1 chr11 102067625 102081678 Gain and loss Pancreatic cancer SNP array 17952125 YAP1 chr11 102067625 102081678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YAP1 chr11 102072326 102072423 Gain Autism 1M Ailent CGH whole-genome array 21865298 YAP1 chr11 102074581 102074656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YAP1 chr11 102077451 134452384 Loss Wilms tumour 250K Genotyping Arrays 21544195 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 102080678 102081800 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 YAP1 chr1 11020847 11041556 Gain and loss Pancreatic cancer SNP array 17952125 C1orf127 chr11 102087735 102100895 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 YAP1 chr11 102088599 102100868 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 YAP1 chr11 102088599 102100868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YAP1 chr11 102088599 102100868 Gain and loss Pancreatic cancer SNP array 17952125 YAP1 chr11 102088599 102100868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YAP1 chr11 102100000 102900000 Deletion Colorectal cancer PCR 16912164 BIRC2,BIRC3,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,TMEM123,WTAPP1,YAP1 chr11 102116195 102149140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 102146444 102156556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102146455 102156569 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 102146455 102156569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102146455 102156569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102165860 102174104 Amplification Myoclonic epilepsy Sequence Detector v1.6.3 software 20976001 NOT_FOUND chr11 102165861 102174104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 102165861 102174104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102165861 102174104 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102165861 102174104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 10216624 10217889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SBF2 chr11 102211738 102219552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BIRC2 chr11 102211738 102219552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BIRC2 chr11 102211738 102219552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIRC2 chr11 102211743 102219550 Gain and loss Pancreatic cancer SNP array 17952125 BIRC2 chr11 102218055 134452384 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,WTAPP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 102227971 102228005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BIRC2 chr11 102238673 102250922 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 BIRC2 chr11 102238686 102250889 Gain and loss Pancreatic cancer SNP array 17952125 BIRC2 chr11 102238686 102250922 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BIRC2 chr11 102238686 102250922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BIRC2 chr11 102238686 102250922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIRC2 chr11 102246056 102246156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BIRC2 chr11 102254501 102259700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 102256287 102258179 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 102256315 102258005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 102256455 102257975 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 102297984 102330509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM123 chr11 102302577 102347426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM123 chr1 110230417 110260883 Copy number Normal Paralogue Ratio Test systems 17175532 GSTM1,GSTM5 chr1 110230417 110260883 Deletion Cancer multiplex PCR 18056202 GSTM1,GSTM5 chr11 102318937 102331672 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMEM123 chr11 102318937 102331672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM123 chr11 102318937 102331672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM123 chr11 102318940 102331672 Gain and loss Pancreatic cancer SNP array 17952125 TMEM123 chr11 102326614 103104927 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCUN1D5,DYNC2H1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,WTAPP1 chr11 102372451 102933560 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 DCUN1D5,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,WTAPP1 chr1 110239350 110277038 Gain and loss Pancreatic cancer SNP array 17952125 GSTM3,GSTM5 chr11 102394010 102394324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MMP7 chr11 102400000 110000000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,RAB39A,SLC35F2,SLN,WTAPP1,ZC3H12C chr11 102400000 110000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,RAB39A,SLC35F2,SLN,WTAPP1,ZC3H12C chr11 102400000 110000000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,RAB39A,SLC35F2,SLN,WTAPP1,ZC3H12C chr11 102400000 110000000 Deletion Chronic lymphocytic leukemia FISH 17805327 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,RAB39A,SLC35F2,SLN,WTAPP1,ZC3H12C chr11 102400000 110000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,RAB39A,SLC35F2,SLN,WTAPP1,ZC3H12C chr11 102400000 110000000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,RAB39A,SLC35F2,SLN,WTAPP1,ZC3H12C chr11 102400000 110000000 Gain,loss Breast cancer - 16397240 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,RAB39A,SLC35F2,SLN,WTAPP1,ZC3H12C chr11 102400000 112800000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AASDHPPT,ACAT1,ALG9,ALKBH8,ARHGAP20,ATM,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,IL18,KBTBD3,KDELC2,LAYN,LOC100132078,LOC643733,LOC643923,MIR34B,MIR34C,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,WTAPP1,ZC3H12C chr11 102400000 112800000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 AASDHPPT,ACAT1,ALG9,ALKBH8,ARHGAP20,ATM,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,IL18,KBTBD3,KDELC2,LAYN,LOC100132078,LOC643733,LOC643923,MIR34B,MIR34C,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,WTAPP1,ZC3H12C chr11 102400000 115400000 Loss Glioblastoma multiforme aCGH 21080181 AASDHPPT,ACAT1,ALG9,ALKBH8,ANKK1,ARHGAP20,ATM,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CLDN25,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KBTBD3,KDELC2,LAYN,LOC100132078,LOC100288346,LOC643733,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PDGFD,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,WTAPP1,ZBTB16,ZC3H12C,ZW10 chr11 102400000 120700000 Gain or loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4693,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,WTAPP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 102400000 134452384 Deletion Neuroblastoma Affymetrix 10K SNP array 17327916 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,WTAPP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 102421240 102421651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102438032 102468079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMP20 chr11 102438032 102468079 Gain and loss Pancreatic cancer SNP array 17952125 MMP20 chr11 102438032 102468079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP20 chr11 102438044 102468106 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MMP20 chr11 10247301 10252300 Deletion Glioma mate-paired sequence 20126413 SBF2 chr11 102485369 102855801 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP8,WTAPP1 chr11 102485370 102529409 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MMP20 chr11 102485370 102529410 Gain and loss Pancreatic cancer SNP array 17952125 MMP20 chr11 102485370 102855801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP8,WTAPP1 chr11 102485370 102855801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP8,WTAPP1 chr11 10249305 10250410 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SBF2 chr11 102521441 102521541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 102529416 102546908 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 102529416 102550036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102534958 123112316 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-687K arrays 21546498 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4693,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP27,MMP3,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,SORL1,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,WTAPP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr1 110254980 110273884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSTM5 chr1 110254980 110273884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSTM5 chr1 11025501 11042500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf127 chr1 11025629 11025629 Copy number Prostate cancer Illumina GA II sequencer 21307934 C1orf127 chr11 102568587 106075265 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AASDHPPT,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,DCUN1D5,DDI1,DYNC2H1,GRIA4,KBTBD3,LOC643733,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP27,MMP3,MMP8,MSANTD4,PDGFD,WTAPP1 chr11 102571379 102571479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MMP27 chr11 102573910 102855561 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MMP1,MMP10,MMP12,MMP13,MMP27,MMP3,MMP8,WTAPP1 chr11 102575122 102575212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MMP27 chr11 102593139 102593294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MMP8 chr11 102611683 110151240 Loss Oral cancer 105K CGH oligonucleotide array 21386901 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP3,MSANTD4,NPAT,PDGFD,RAB39A,RDX,SLC35F2,SLN,WTAPP1,ZC3H12C chr11 102626683 105738304 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,DCUN1D5,DDI1,DYNC2H1,GRIA4,LOC643733,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP3,PDGFD,WTAPP1 chr11 102646923 102656077 Loss Normal 244K array 17666407 MMP10,WTAPP1 chr11 102652001 102778728 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 MMP1,MMP12,MMP3,WTAPP1 chr11 10265590 10265680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SBF2 chr11 102660640 102668966 Copy number Carotid artery disease Nucleon Bacc3 DNA extraction kits 17901377 MMP1,WTAPP1 chr11 102661363 102661463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MMP1,WTAPP1 chr11 102706527 102714342 Copy number Carotid artery disease Nucleon Bacc3 DNA extraction kits 17901377 MMP3,WTAPP1 chr11 102740475 102740565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MMP12 chr11 102779361 102779428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102779361 102779428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102780106 102780173 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102780106 102780173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102780178 102780245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102780178 102780245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102781787 102781852 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102781852 102781910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102781852 102781910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102781935 102782007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102781935 102782007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102782009 102782075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102782009 102782075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102782085 102782152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102782085 102782152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102783180 102783247 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102783180 102783247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102783249 102783320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102783318 102783382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102783318 102783382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102784317 102784384 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102784317 102784384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102785972 102786040 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102785972 102786040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 102786732 102786993 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102786990 102787060 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 102802248 102802348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10280501 10286000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SBF2 chr11 10283206 10285499 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SBF2 chr11 10283208 10285499 Gain and loss Pancreatic cancer SNP array 17952125 SBF2 chr11 10283219 10285518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SBF2 chr11 10283219 10285518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SBF2 chr11 102856185 103050971 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 DCUN1D5,DYNC2H1 chr1 11028686 11028761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf127 chr1 110289296 110309287 Gain and loss Pancreatic cancer SNP array 17952125 EPS8L3 chr11 102900000 110400000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,FDX1,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MSANTD4,NPAT,PDGFD,RAB39A,RDX,SLC35F2,SLN,ZC3H12C chr11 102900000 110400000 Gain Esophageal squamous carcinoma Array CGH 17470683 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,FDX1,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MSANTD4,NPAT,PDGFD,RAB39A,RDX,SLC35F2,SLN,ZC3H12C chr11 102900000 110400000 Loss Mantle cell lymphoma Array CGH 19029149 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,FDX1,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643733,LOC643923,MIR4693,MSANTD4,NPAT,PDGFD,RAB39A,RDX,SLC35F2,SLN,ZC3H12C chr11 102900000 112500000 Loss Malignant peripheral nerve sheath tumor Array CGH 18522746 AASDHPPT,ACAT1,ALG9,ALKBH8,ARHGAP20,ATM,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,IL18,KBTBD3,KDELC2,LAYN,LOC100132078,LOC643733,LOC643923,MIR34B,MIR34C,MIR4491,MIR4693,MSANTD4,NPAT,PDGFD,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,ZC3H12C chr11 102900000 123900000 Loss Malignant melanoma BAC array CGH 17260012 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8D4,PAFAH1B2,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,SORL1,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 102900000 135006516 Copy number Endometrioid adenocarcinoma CGH 16974079 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 102900000 135006516 Loss Prostate cancer Array CGH 16573809 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 102901118 121963326 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-683K arrays 21546498 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100HG,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4693,MLL,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDGFD,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,SORL1,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 102916032 102916344 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 102963303 102963403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 110308544 110308633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 103140274 103140374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYNC2H1 chr11 103150047 103181726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DYNC2H1 chr1 110315397 110325276 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 10317246 10317346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 103175949 103176044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYNC2H1 chr11 103201070 103201277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYNC2H1 chr11 103201274 103201455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYNC2H1 chr1 11032121 11581284 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL7,C1orf127,EXOSC10,MASP2,MTOR,MTOR-AS1,PTCHD2,SRM,TARDBP,UBIAD1 chr11 103283123 103540237 Gain or loss Breast cancer - 20668451 DYNC2H1 chr11 103283123 103540237 Gain or loss Cancer - 20668451 DYNC2H1 chr11 103283123 103540237 Gain or loss Lung cancer - 20668451 DYNC2H1 chr11 103283123 103540237 Gain or loss Ovarian cancer - 20668451 DYNC2H1 chr11 103283123 103540237 Gain or loss Pancreas cancer - 20668451 DYNC2H1 chr11 103283123 103540237 Gain or loss Prostate cancer - 20668451 DYNC2H1 chr11 103283125 103540237 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DYNC2H1 chr11 103283125 103540237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYNC2H1 chr11 103283125 103540237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYNC2H1 chr11 103283131 103540317 Gain and loss Pancreatic cancer SNP array 17952125 DYNC2H1 chr1 110328830 110367887 Amplification Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr1 110328831 110374500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110328831 110374500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 103297814 103330819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYNC2H1 chr11 10330000 11140000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AMPD3,CTR9,EIF4G2,LOC729013,LYVE1,MIR4485,MRVI1,MRVI1-AS1,MTRNR2L8,RNF141,SNORD97,ZBED5 chr11 10330653 10714793 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-670K arrays 21546498 AMPD3,LYVE1,MIR4485,MRVI1,MRVI1-AS1,MTRNR2L8,RNF141 chr11 103331101 103331201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYNC2H1 chr11 103343233 103675916 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DYNC2H1 chr1 110339388 119426489 Deletion Cancer Affymetrix 250K Sty array 20164920 ADORA3,AHCYL1,AKR7A2P1,ALX3,AMPD1,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CEPT1,CHI3L2,CHIA,CSDE1,CSF1,CTTNBP2NL,CYMP,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,FAM19A3,FAM212B,FAM40A,FAM46C,GDAP2,HIPK1,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,LAMTOR5,LOC100129269,LOC100506343,LOC440600,LOC643355,LOC643441,LRIF1,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR320B1,MIR4256,MIR942,MOV10,NGF,NHLH2,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PROK1,PTGFRN,PTPN22,RAP1A,RBM15,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC6A17,SPAG17,ST7L,SYCP1,SYT6,TBX15,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VTCN1,WDR3,WDR77,WNT2B chr11 103412518 103415132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 103412518 103415132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 103412538 103415126 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 103412538 103415126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 103419901 103425300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 103421132 103423716 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 103421132 103423716 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 110344280 110376769 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 103454739 103454836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 103468225 103468325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 103489260 106419349 Loss Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 AASDHPPT,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,DDI1,GRIA4,KBTBD3,LOC643733,MIR4693,MSANTD4,PDGFD chr11 103515684 103516027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 103569727 103571589 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 103617999 103618060 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 103617999 103618060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 103628521 103628587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 103628521 103628587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110367110 110368611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 103685591 103685933 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 110371934 110378904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 11037236 11042678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf127 chr1 11037236 11042678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf127 chr1 110374399 110380004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 110375722 110398784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110375722 110398784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 103768103 103781179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDGFD chr11 103769467 103789308 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDGFD chr11 103769555 103787727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDGFD chr11 103771795 103778794 Deletion Normal TaqMan assays 20972442 PDGFD chr11 103772887 103778498 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 PDGFD chr11 103772887 103778498 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PDGFD chr11 103772959 103778439 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PDGFD chr11 103772963 103778443 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 PDGFD chr11 103773001 103778000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDGFD chr11 10377315 10377440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 10377316 10377439 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 10377316 10377439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 103778001 107290000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AASDHPPT,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CWF19L2,DDI1,GRIA4,GUCY1A2,KBTBD3,LOC643733,MSANTD4,PDGFD chr1 110378501 110404500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 103792043 103808152 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 PDGFD chr11 103792604 103792785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDGFD chr11 103821295 103825972 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 PDGFD chr1 110389109 110454403 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CSF1 chr11 1039001 1046500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 110398674 110410385 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 110398674 110425064 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 110403445 110435141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 110404501 110415500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 110404520 110414845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110404520 110414845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104052770 104061338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 104069736 104677259 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 10412694 10412779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10413827 10414023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104144541 104144745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104144739 104144971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 110415501 110589000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHCYL1,CSF1,FAM40A chr11 104171070 133686875 Loss Prostate cancer Array CGH 18632612 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 104173905 104176101 Gain Normal 244K array 17666407 NOT_FOUND chr11 10420928 10427029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 104214277 104234592 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 104215160 104242742 Loss Normal 244K array 17666407 NOT_FOUND chr1 110421594 110429630 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 110422798 110431686 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 104240228 104240328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104260553 104260653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104262627 104274607 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 104262627 104274607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104262627 104274607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 10427501 10486000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMPD3 chr11 10428800 10485247 Gain and loss Pancreatic cancer SNP array 17952125 AMPD3 chr11 10428800 10485702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMPD3 chr11 10428800 10485702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMPD3 chr11 104318803 104344535 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 104318803 104344535 Gain or loss Cancer - 20668451 NOT_FOUND chr11 104318803 104344535 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 104318803 104344535 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 104318803 104344535 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 104318803 104344535 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 104318804 104344535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104318804 104344535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104318804 104345373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 104318810 104345373 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 104331512 104360046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 110433364 110433428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10434694 10434784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104349891 104349991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104370171 104384956 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 104370171 104384956 Gain or loss Cancer - 20668451 NOT_FOUND chr11 104370171 104384956 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 104370171 104384956 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 104370171 104384956 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 104370171 104384956 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 104370180 104384909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 104370180 104384957 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 104370180 104384957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104370180 104384957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104375536 105712942 LOH Normal High-resolution SNP genotyping 21211785 CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,GRIA4,LOC643733 chr11 104384903 105712942 LOH Normal High-resolution SNP genotyping 21211785 CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,GRIA4,LOC643733 chr11 104401446 104421261 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 104401446 104421261 Gain or loss Cancer - 20668451 NOT_FOUND chr11 104401446 104421261 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 104401446 104421261 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 104401446 104421261 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 104401446 104421261 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 104401449 104477368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 104401458 104411086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104401458 104411086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104401458 104477368 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 104417263 104421261 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 104417263 104421261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104417263 104421261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104418226 104418320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104421571 104466440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 104428560 104436602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 104429072 104436443 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 104449972 104474695 Gain Normal 244K array 17666407 NOT_FOUND chr11 104457493 104515401 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 110446636 110453108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 104468406 104477368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104468406 104477368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104513879 104515035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104514750 104515019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 104514750 104515019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 104520828 104520928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1104523 1105523 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr11 104555015 104572108 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 110456585 110458092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSF1 chr1 110456585 110458092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSF1 chr11 104569097 133732868 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 104611962 104612052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104618091 104618134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104621476 104665758 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 104656655 104656818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 110466019 110488112 Gain and loss Pancreatic cancer SNP array 17952125 CSF1 chr11 104713039 104713139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104728607 104728903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 104728607 104728903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 104729468 104729541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104730339 104755140 Loss Normal 244K array 17666407 NOT_FOUND chr11 104746386 104746471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 104786385 104786607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643733 chr11 104786594 104786822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643733 chr11 104798680 104804115 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 104811521 104811598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10486001 10488500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMPD3 chr11 104870759 104870859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASP5 chr11 10487312 10487380 Gain and loss Pancreatic cancer SNP array 17952125 AMPD3 chr11 10487312 10487380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMPD3 chr11 10488052 10488312 Gain and loss Pancreatic cancer SNP array 17952125 AMPD3 chr11 10488052 10488742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMPD3 chr11 10488333 10488403 Gain and loss Pancreatic cancer SNP array 17952125 AMPD3 chr11 10488333 10488403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMPD3 chr11 1048850 1050224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 11048915 11054323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 10489800 10519350 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AMPD3 chr11 10489801 10519350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMPD3 chr11 10489801 10519350 Gain and loss Pancreatic cancer SNP array 17952125 AMPD3 chr11 10489801 10519350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMPD3 chr11 10492617 44271172 Loss Prostate cancer Array CGH 18632612 ABCC8,ABTB2,ACCS,ACCSL,ALKBH3,AMPD3,ANO3,ANO5,API5,APIP,ARL14EP,ARNTL,BBOX1,BDNF,BDNF-AS,BTBD10,C11orf58,C11orf74,C11orf91,C11orf96,CALCA,CALCB,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CYP2R1,DBX1,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,E2F8,EHF,EIF3M,EIF4G2,ELF5,ELP4,EXT2,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,GALNTL4,GAS2,GTF2H1,HIPK3,HNRNPKP3,HPS5,HSD17B12,HTATIP2,IGSF22,IMMP1L,INSC,KCNA4,KCNC1,KCNJ11,KIAA1549L,KIF18A,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100126784,LOC100500938,LOC100506305,LOC100507205,LOC100507300,LOC338739,LOC494141,LOC729013,LRRC4C,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR3973,MIR4299,MIR4485,MIR4486,MIR4694,MIR610,MIR670,MPPED2,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MYOD1,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PAMR1,PARVA,PAX6,PDE3B,PDHX,PIK3C2A,PLEKHA7,PRMT3,PRR5L,PRRG4,PSMA1,PTH,PTPN5,QSER1,RAG1,RAG2,RASSF10,RCN1,RNF141,RPS13,RRAS2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SEC14L1P1,SERGEF,SLC17A6,SLC1A2,SLC5A12,SLC6A5,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,SVIP,TCP11L1,TEAD1,TMEM86A,TPH1,TRAF6,TRIM44,TSG101,TTC17,UEVLD,USH1C,USP47,WT1,WT1-AS,ZBED5,ZDHHC13 chr1 11049268 11082525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TARDBP chr1 11049268 11082525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TARDBP chr11 10493830 10502111 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AMPD3 chr1 110494631 110546347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHCYL1 chr1 110494631 110546347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHCYL1 chr11 104963246 104992649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CARD17 chr11 104986010 105358029 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CARD18 chr11 104986010 105358029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARD18 chr11 104986010 105358029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARD18 chr11 104986016 105355676 Gain and loss Pancreatic cancer SNP array 17952125 CARD18 chr11 105018271 105126491 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 10510965 10543599 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AMPD3,MIR4485,MTRNR2L8,RNF141 chr1 110511338 110511338 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr11 105124492 105124591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10512812 10512912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMPD3 chr11 105134747 105674579 Amplification Breast cancer FISH 17142309 GRIA4 chr11 10513618 10513708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMPD3 chr11 10515175 10701970 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 AMPD3,LYVE1,MIR4485,MRVI1,MRVI1-AS1,MTRNR2L8,RNF141 chr11 105157429 118677466 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-708K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ATM,ATP5L,BACE1,BACE1-AS,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CUL5,CWF19L2,DDX10,DDX6,DIXDC1,DLAT,DRD2,DSCAML1,ELMOD1,EXPH5,FDX1,FDXACB1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IFT46,IL10RA,IL18,KBTBD3,KDELC2,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100652768,LOC283143,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,MLL,MPZL2,MPZL3,MSANTD4,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PAFAH1B2,PCSK7,PHLDB1,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,RNF214,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLN,TAGLN,TEX12,TIMM8B,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TREH,TTC12,TTC36,UBE4A,USP28,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 105181835 105181935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10519395 10578054 Gain and loss Pancreatic cancer SNP array 17952125 AMPD3,MIR4485,MRVI1-AS1,MTRNR2L8,RNF141 chr11 10519395 10578054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMPD3,MIR4485,MRVI1-AS1,MTRNR2L8,RNF141 chr11 105200570 105200638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 105200570 105200701 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 105200570 105200706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 105228703 105229032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 105270716 105271034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 110527148 110527271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 110527150 110527271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 105300442 105300474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1053326 8364966 Copy number Lung cancer paired-end sequencing 18438408 APBB1,ARFIP2,ART1,ART5,ASCL2,BRSK2,C11orf21,C11orf40,C11orf42,CARS,CCKBR,CD81,CDKN1C,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DNHD1,DUSP8,EIF3F,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,IFITM10,IGF2,IGF2-AS,ILK,INS,INS-IGF2,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100506082,LOC255512,LOC283299,LOC338651,LOC650368,LSP1,MIR4298,MIR4686,MIR4687,MIR483,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MUC2,MUC5B,NAP1L4,NLRP10,NLRP14,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RRM1,RRP8,SLC22A18,SLC22A18AS,SMPD1,SNORA54,STIM1,SYT8,SYT9,TAF10,TH,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM68,TRPC2,TRPM5,TSPAN32,TSSC4,TUB,UBQLN3,UBQLNL,ZNF195,ZNF214,ZNF215 chr11 10535989 10546941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF141 chr11 10535989 10546941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF141 chr11 10535990 10546855 Gain and loss Pancreatic cancer SNP array 17952125 RNF141 chr11 10536921 10538727 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RNF141 chr11 105383838 105398164 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 105383840 105398164 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 105383840 105398164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 105383840 105398164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 105383860 105398164 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 105391596 105391696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 105427036 105453396 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 105427036 105453396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 105427036 105453396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 105427036 105453396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1054455 2634687 Substitutions and indels small cell lung cancer array-CGH 20016488 ASCL2,BRSK2,C11orf21,CD81,CTSD,DUSP8,FAM99A,FAM99B,H19,IFITM10,IGF2,IGF2-AS,INS,INS-IGF2,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC255512,LOC338651,LSP1,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,SYT8,TH,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSSC4 chr11 105450587 106710581 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AASDHPPT,GRIA4,GUCY1A2,KBTBD3,MSANTD4 chr11 105450587 115354106 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AASDHPPT,ACAT1,ALG9,ALKBH8,ANKK1,ARHGAP20,ATM,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CLDN25,CRYAB,CUL5,CWF19L2,DDX10,DIXDC1,DLAT,DRD2,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KBTBD3,KDELC2,LAYN,LOC100132078,LOC100288346,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,MSANTD4,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZC3H12C,ZW10 chr11 105453495 105474629 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 105453495 105474629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 105453501 105474629 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 105453502 105474629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 105453502 105474629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 105473975 105474217 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 105481367 105481467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA4 chr11 10551214 10630360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LYVE1,MRVI1,MRVI1-AS1,RNF141 chr11 10551214 10630360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYVE1,MRVI1,MRVI1-AS1,RNF141 chr11 105512529 105512618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA4 chr11 10553883 10672111 Gain and loss Pancreatic cancer SNP array 17952125 LYVE1,MRVI1,MRVI1-AS1,RNF141 chr11 105546017 105546068 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRIA4 chr1 110555588 110578188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHCYL1,FAM40A chr1 110555588 110578188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHCYL1,FAM40A chr11 105567939 105858834 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GRIA4 chr11 105582828 105626485 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GRIA4 chr11 105665823 105665923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA4 chr11 105716030 108818442 Loss Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 AASDHPPT,ACAT1,ALKBH8,ATM,C11orf65,CUL5,CWF19L2,DDX10,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,LOC643923,MSANTD4,NPAT,RAB39A,SLC35F2,SLN chr11 1057274 1084617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUC2 chr11 105772975 105773070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA4 chr11 105773665 105785449 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GRIA4 chr11 105809536 105809636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA4 chr11 1058278 9672828 Copy number Lung cancer paired-end sequencing 18438408 AKIP1,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,BRSK2,C11orf16,C11orf21,C11orf40,C11orf42,CARS,CCKBR,CD81,CDKN1C,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DENND5A,DNHD1,DUSP8,EIF3F,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,IFITM10,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100506082,LOC255512,LOC283299,LOC338651,LOC644656,LOC650368,LSP1,MIR4298,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MUC2,MUC5B,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RPL27A,RRM1,RRP8,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SYT8,SYT9,TAF10,TH,TMEM41B,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 105835859 105836050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA4 chr11 105838436 105838536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA4 chr11 105881574 106564323 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 AASDHPPT,GUCY1A2,KBTBD3,MSANTD4 chr11 105903492 105903592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 105905901 105905984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 105911070 106019983 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AASDHPPT,KBTBD3 chr1 110593170 110601337 Gain and loss Pancreatic cancer SNP array 17952125 FAM40A chr11 105943956 105944006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KBTBD3 chr1 110599646 110599822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1060001 1106000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MUC2 chr11 106001082 106036538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 10601001 10608000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MRVI1,MRVI1-AS1 chr1 110602804 110602889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106044383 106044582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106044458 106044558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106063119 106394381 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 106063119 106394381 Gain or loss Cancer - 20668451 NOT_FOUND chr11 106063119 106394381 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 106063119 106394381 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 106063119 106394381 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 106063119 106394381 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 106063120 106394381 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 106063120 106394381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106063120 106394381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 106063120 106394381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106087187 106087287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106088452 106088591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 11060947 11094204 Gain and loss Pancreatic cancer SNP array 17952125 MASP2,TARDBP chr11 106095972 106096072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106099209 123760927 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-662K arrays 21546498 ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KDELC2,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,OR6M1,OR6X1,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,SORL1,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 106101078 106101374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 106124686 106127479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 1061434 1092853 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUC2 chr1 110616629 110616752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106170256 106170476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106170349 106170442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106170468 106170694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 110617529 110645712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 106177285 106177428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106182152 107367878 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CWF19L2,GUCY1A2 chr11 106202328 106203826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106202328 106203826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 106202328 106203826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106262230 106300356 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 106289401 106296600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 106291448 106294779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 106292103 106292203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106334261 106377319 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 106373311 106373382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106383806 106384187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 110641417 110641512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106417979 114849006 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACAT1,ALG9,ALKBH8,ANKK1,ARHGAP20,ATM,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CLDN25,CRYAB,CUL5,CWF19L2,DDX10,DIXDC1,DLAT,DRD2,ELMOD1,EXPH5,FDX1,FDXACB1,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KDELC2,LAYN,LOC100132078,LOC100288346,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZC3H12C,ZW10 chr11 1064192 1095129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUC2 chr11 106438384 106438484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10645720 10690715 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRVI1 chr11 106465180 106801044 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-665K arrays 21546498 GUCY1A2 chr11 106467450 106467505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1064875 1088828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUC2 chr11 106488320 106488420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1064902 1069689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 106552231 106553451 Gain and loss Pancreatic cancer SNP array 17952125 GUCY1A2 chr11 106558245 106618811 Gain Normal Birdsuite, version 1.5.2 22087296 GUCY1A2 chr1 110655921 110662606 Gain and loss Pancreatic cancer SNP array 17952125 UBL4B chr11 106618811 106732690 Gain Normal Birdsuite, version 1.5.2 22087296 GUCY1A2 chr1 110662201 110991100 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNC4,LAMTOR5,LOC440600,RBM15,SLC16A4,SLC6A17 chr11 106663821 106663875 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GUCY1A2 chr1 110666882 110670183 Loss Normal 244K array 17666407 NOT_FOUND chr11 106702293 106833775 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GUCY1A2 chr11 106702293 106833775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A2 chr11 106702293 106833775 Gain and loss Pancreatic cancer SNP array 17952125 GUCY1A2 chr11 106702293 106833775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A2 chr11 106717010 106757930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCY1A2 chr11 106724834 106756990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCY1A2 chr11 106729792 106760932 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCY1A2 chr11 106737181 106751680 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 GUCY1A2 chr11 106737181 106751680 Total allelic loss Normal High-resolution SNP genotyping 21211785 GUCY1A2 chr11 106740932 106755503 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 GUCY1A2 chr11 106740932 106755503 Total allelic loss Normal High-resolution SNP genotyping 21211785 GUCY1A2 chr11 106744472 106747949 Loss or gain Normal 244K array 17666407 GUCY1A2 chr11 10676246 10676346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRVI1 chr1 110678039 110690818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110678039 110690818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110683467 110690826 Copy number Lung cancer - 20668451 NOT_FOUND chr1 110683467 110690826 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 110683467 110690826 Gain or loss Cancer - 20668451 NOT_FOUND chr1 110683467 110690826 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 110683467 110690826 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 110683467 110690826 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 110683467 110690826 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 106840935 106841035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GUCY1A2 chr11 106878664 106941637 Gain and loss Pancreatic cancer SNP array 17952125 GUCY1A2 chr11 106879525 106879591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GUCY1A2 chr11 106880543 106941637 Amplification Intellectual disability 100k SNP Array 21811512 GUCY1A2 chr11 106880543 106941637 Deletion Intellectual disability 100k SNP Array 21811512 GUCY1A2 chr11 106880550 106941637 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GUCY1A2 chr11 106880550 106941637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A2 chr11 106880550 106941637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A2 chr11 106890043 106890133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106893560 106893665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10691020 10691104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRVI1 chr11 106916419 134173875 Loss Renal cell carcinoma GeneChip Human Mapping 50K Hind Array 21668985 ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC341056,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 106917773 106917856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 106934948 107944382 LOH Normal High-resolution SNP genotyping 21211785 ALKBH8,CUL5,CWF19L2,ELMOD1,LOC643923,RAB39A,SLC35F2,SLN chr11 106967284 107042714 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 106967286 107042715 Amplification Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr11 106967681 106969159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 106967681 106969159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106967681 106969159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 106967681 106969159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106992719 107042714 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 106992719 107042714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106992719 107042714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 106998694 116628086 Copy number Lung cancer paired-end sequencing 18438408 ACAT1,ALG9,ALKBH8,ANKK1,ARHGAP20,ATM,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CLDN25,CRYAB,CUL5,CWF19L2,DDX10,DIXDC1,DLAT,DRD2,ELMOD1,EXPH5,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KDELC2,LAYN,LOC100132078,LOC100288346,LOC283143,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZC3H12C,ZW10 chr11 10700000 12600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CSNK2A1P,CTR9,DKK3,EIF4G2,GALNTL4,LOC729013,MICAL2,MICALCL,MIR4299,MRVI1,PARVA,SNORD97,USP47,ZBED5 chr11 10700000 31000000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCC8,ANO3,ANO5,ARL14EP,ARNTL,BBOX1,BDNF,BDNF-AS,BTBD10,C11orf58,CALCA,CALCB,CCDC34,COPB1,CSNK2A1P,CSRP3,CTR9,CYP2R1,DBX1,DCDC5,DKK3,E2F8,EIF4G2,FANCF,FAR1,FIBIN,FSHB,GALNTL4,GAS2,GTF2H1,HPS5,HTATIP2,IGSF22,INSC,KCNA4,KCNC1,KCNJ11,KIF18A,LDHA,LDHAL6A,LDHC,LGR4,LIN7C,LOC100126784,LOC100500938,LOC100506305,LOC494141,LOC729013,LUZP2,METTL15,MICAL2,MICALCL,MIR4299,MIR4486,MIR4694,MIR610,MPPED2,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRVI1,MUC15,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PARVA,PDE3B,PIK3C2A,PLEKHA7,PRMT3,PSMA1,PTH,PTPN5,RASSF10,RPS13,RRAS2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC17A6,SLC5A12,SLC6A5,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,SVIP,TEAD1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,USP47,ZBED5,ZDHHC13 chr11 107022588 107056343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 10704026 10704125 Gain and loss Pancreatic cancer SNP array 17952125 MRVI1 chr11 10704026 10704127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRVI1 chr1 110705791 110712016 Gain and loss Pancreatic cancer SNP array 17952125 SLC6A17 chr1 110707028 110735159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC6A17 chr1 110707028 110735159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC6A17 chr11 107083319 107087992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 107083319 107087997 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 107083319 107087997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107083319 107087997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107086196 116175885 Deletion Cancer Affymetrix 250K Sty array 20164920 ACAT1,ALG9,ALKBH8,ANKK1,ARHGAP20,ATM,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CLDN25,CRYAB,CUL5,CWF19L2,DDX10,DIXDC1,DLAT,DRD2,ELMOD1,EXPH5,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KDELC2,LAYN,LOC100132078,LOC100288346,LOC283143,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZC3H12C,ZW10 chr11 107088208 107100345 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 107089081 122829490 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-671K arrays 21546498 ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BLID,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KDELC2,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIRLET7A2,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,SORL1,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 107112330 107112903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 107122490 107122703 Loss Normal 244K array 17666407 NOT_FOUND chr11 107145501 107423800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALKBH8,CWF19L2 chr11 107148339 107152554 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 107148339 107152554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107148339 107183740 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 107155429 107157526 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 107155429 107157526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 10715612 10715693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 107158953 107176398 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 107166926 107234864 Copy number Normal Illumina Human610-Quad BeadChip 21660214 CWF19L2 chr11 107166928 107234864 Gain and loss Pancreatic cancer SNP array 17952125 CWF19L2 chr11 107166928 107235124 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CWF19L2 chr11 107166930 107234864 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CWF19L2 chr11 107166930 107234864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CWF19L2 chr11 107166930 107234864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CWF19L2 chr11 107212551 107212651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CWF19L2 chr11 10725296 10725396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 10726185 107946367 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-250K arrays 21546498 AASDHPPT,ABCC8,ABTB2,ACCS,ACCSL,ACER3,ACP2,ACTN3,ACY3,ADRBK1,AGBL2,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALKBH3,ALKBH8,ALX4,AMBRA1,AMOTL1,ANAPC15,ANGPTL5,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,AP5B1,API5,APIP,APLNR,AQP11,ARAP1,ARFGAP2,ARHGAP1,ARHGAP42,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ASRGL1,ATG13,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBOX1,BBS1,BDNF,BDNF-AS,BEST1,BIRC2,BIRC3,BRMS1,BSCL2,BTBD10,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf49,C11orf54,C11orf58,C11orf67,C11orf68,C11orf70,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf91,C11orf94,C11orf95,C11orf96,C1QTNF4,C2CD3,CABP2,CABP4,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD44,CD5,CD59,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CELF1,CEP57,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHST1,CKAP5,CLCF1,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRY2,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCUN1D5,DDB1,DDB2,DDI1,DEFB108B,DEPDC7,DGAT2,DGKZ,DHCR7,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLG2,DNAJB13,DNAJC24,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,DYNC2H1,E2F8,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EHF,EIF1AD,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,ESRRA,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FRMD8,FSHB,FTH1,FUT4,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRIA4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GYLTL1B,HARBI1,HEPHL1,HIPK3,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HRASLS2,HRASLS5,HSD17B12,HTATIP2,IGHMBP2,IGSF22,IL18BP,IMMP1L,INCENP,INPPL1,INSC,INTS4,INTS5,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ11,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00294,LINC00301,LIPT2,LMO2,LOC100126784,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100500938,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100996455,LOC101054525,LOC221122,LOC254100,LOC283194,LOC283214,LOC338739,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC646813,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRN4CL,LRTOMT,LTBP3,LUZP2,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MICAL2,MICALCL,MIR1237,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4299,MIR4300,MIR4486,MIR4488,MIR4489,MIR4490,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPPED2,MRE11A,MRGPRD,MRGPRF,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MUC15,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NOX4,NPAS4,NR1H3,NRXN2,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NXF1,ODZ4,OMP,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E14P,OR7E2P,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAK1,PAMR1,PANX1,PARVA,PATL1,PAX6,PC,PCF11,PCNXL3,PDE2A,PDE3B,PDGFD,PDHX,PELI3,PEX16,PGA3,PGA4,PGA5,PGM2L1,PGR,PHF21A,PHOX2A,PICALM,PIK3C2A,PITPNM1,PIWIL4,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRCP,PRDM11,PRDX5,PRG2,PRG3,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCN1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,ROM1,RPLP0P2,RPS13,RPS3,RPS6KA4,RPS6KB2,RRAS2,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX32,SOX6,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRSF8,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SVIP,SYT12,SYT13,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,THRSP,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMEM86A,TMX2,TMX2-CTNND1,TNKS1BP1,TP53I11,TPBGL,TPCN2,TPH1,TRAF6,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM64C,TRIM77P,TRMT112,TRPC6,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TTC17,TTC9C,TUT1,TYR,UBE2L6,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,USH1C,USP35,USP47,UVRAG,VEGFB,VPS37C,VPS51,VSTM5,VWCE,WDR74,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB3,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF408,ZNHIT2,ZP1 chr11 107266185 116834594 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-658K arrays 21546498 ACAT1,ALG9,ALKBH8,ANKK1,APOA1,APOA4,APOA5,APOC3,ARHGAP20,ATM,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CLDN25,CRYAB,CUL5,CWF19L2,DDX10,DIXDC1,DLAT,DRD2,ELMOD1,EXPH5,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KDELC2,LAYN,LOC100132078,LOC100288346,LOC283143,LOC643923,MIR34B,MIR34C,MIR4301,MIR4491,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SIK3,SLC35F2,SLN,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 107276242 107295470 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CWF19L2 chr11 10728426 10728512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 107287221 107293595 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CWF19L2 chr11 107287221 107293595 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 CWF19L2 chr11 107289717 107292923 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CWF19L2 chr11 107290001 107293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CWF19L2 chr11 10729379 10757863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 10729379 10757863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 10729379 10757863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107295518 107295618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CWF19L2 chr11 107304487 107339416 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CWF19L2 chr11 107304487 107339416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CWF19L2 chr11 107304487 107339416 Gain and loss Pancreatic cancer SNP array 17952125 CWF19L2 chr11 107304487 107339416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CWF19L2 chr11 107333692 107364426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 107346114 107685623 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ALKBH8,ELMOD1,LOC643923,SLC35F2,SLN chr11 107346114 108015771 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACAT1,ALKBH8,CUL5,ELMOD1,LOC643923,RAB39A,SLC35F2,SLN chr11 107365722 107365822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 107365865 107949566 LOH Normal High-resolution SNP genotyping 21211785 ALKBH8,CUL5,ELMOD1,LOC643923,RAB39A,SLC35F2,SLN chr11 107384618 107483676 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALKBH8,ELMOD1,LOC643923 chr11 107384618 107483676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALKBH8,ELMOD1,LOC643923 chr11 107384618 107483676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALKBH8,ELMOD1,LOC643923 chr11 107384855 107482773 Gain and loss Pancreatic cancer SNP array 17952125 ALKBH8,ELMOD1,LOC643923 chr1 110738572 110745829 Gain and loss Pancreatic cancer SNP array 17952125 SLC6A17 chr11 107395125 107395157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALKBH8 chr11 107401046 107685623 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ALKBH8,ELMOD1,LOC643923,SLC35F2,SLN chr11 107419503 108193907 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACAT1,ALKBH8,ATM,CUL5,ELMOD1,LOC643923,NPAT,RAB39A,SLC35F2,SLN chr11 107451612 108051787 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ACAT1,CUL5,ELMOD1,LOC643923,NPAT,RAB39A,SLC35F2,SLN chr1 110745394 110752083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110745394 110752083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107460850 107460949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 107460850 107460950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 107460850 107460951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107481676 119854484 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCG4,ACAT1,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CUL5,CXCR5,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KDELC2,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,TAGLN,TEX12,THY1,TIMM8B,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 107488075 107494005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ELMOD1 chr11 107493320 107527716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ELMOD1 chr11 107497468 107523479 Gain and loss Pancreatic cancer SNP array 17952125 ELMOD1 chr11 107497468 107523485 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ELMOD1 chr11 107497468 107523485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELMOD1 chr11 107497468 107523485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMOD1 chr11 1074996 1089072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUC2 chr11 107511257 108661992 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACAT1,ATM,C11orf65,CUL5,DDX10,ELMOD1,EXPH5,KDELC2,NPAT,RAB39A,SLC35F2,SLN chr11 107520009 107885084 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 CUL5,ELMOD1,RAB39A,SLC35F2,SLN chr11 107533330 107598539 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ELMOD1,SLN chr11 107533331 107598575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELMOD1,SLN chr11 107533331 107598575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMOD1,SLN chr11 107534879 107598566 Gain and loss Pancreatic cancer SNP array 17952125 ELMOD1,SLN chr11 107578108 107582787 Copy number Breast cancer OSNA Assay 21993859 SLN chr11 107598768 107745036 Deletion T-cell prolymphocytic leukemia References 19278963 SLC35F2 chr11 107598768 107745036 Gain or loss Breast cancer - 20668451 SLC35F2 chr11 107598768 107745036 Gain or loss Cancer - 20668451 SLC35F2 chr11 107598768 107745036 Gain or loss Lung cancer - 20668451 SLC35F2 chr11 107598768 107745036 Gain or loss Ovarian cancer - 20668451 SLC35F2 chr11 107598768 107745036 Gain or loss Pancreas cancer - 20668451 SLC35F2 chr11 107598768 107745036 Gain or loss Prostate cancer - 20668451 SLC35F2 chr11 107598769 107745036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC35F2 chr11 107598769 107745036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC35F2 chr11 107598769 107745036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F2 chr11 107603531 107741966 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F2 chr11 107605440 107605541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107605442 107605541 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1076556 1076793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MUC2 chr11 107661196 107662372 Amplification or deletion Cancer Array CGH 17440070 SLC35F2 chr11 107669382 111239405 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ACAT1,ARHGAP20,ATM,C11orf53,C11orf65,C11orf87,C11orf92,C11orf93,CUL5,DDX10,EXPH5,FDX1,KDELC2,MIR4491,NPAT,POU2AF1,RAB39A,RDX,SLC35F2,ZC3H12C chr11 107707138 107843438 Gain and loss Pancreatic cancer SNP array 17952125 RAB39A,SLC35F2 chr11 107707140 107843468 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAB39A,SLC35F2 chr11 107707140 107843468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB39A,SLC35F2 chr11 107707140 107843468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB39A,SLC35F2 chr1 110771916 110773451 Gain and loss Pancreatic cancer SNP array 17952125 KCNC4 chr11 1077501 1093194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUC2 chr11 10775169 10787158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTR9 chr11 10775169 10787158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTR9 chr11 10775178 10787051 Gain and loss Pancreatic cancer SNP array 17952125 CTR9 chr11 10779590 10779731 Gain and loss Pancreatic cancer SNP array 17952125 CTR9 chr11 1078181 1089702 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUC2 chr11 107845392 107845489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107848062 107874323 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 107848062 107874323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 107848062 107874369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107848062 107874369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 107883700 127572100 Loss Prostate cancer Array CGH 18632612 ABCG4,ACAT1,ACRV1,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CUL5,CXCR5,DCPS,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ESAM,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NLRX1,NNMT,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PTS,PUS3,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC37A2,SLC37A4,SORL1,SPA17,SRPR,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 107884886 107969675 Gain and loss Pancreatic cancer SNP array 17952125 CUL5 chr11 107884893 107969570 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CUL5 chr11 107884893 107969570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUL5 chr11 107884893 107969570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUL5 chr11 1078929 1086387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUC2 chr11 107931027 107931127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUL5 chr1 110795272 110801497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110795272 110801497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 110795310 110801499 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 110796501 110950000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAMTOR5,LOC440600,RBM15,SLC16A4 chr11 108041014 108316866 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATM,C11orf65,NPAT chr11 108041014 108316866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATM,C11orf65,NPAT chr11 108041014 108316866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATM,C11orf65,NPAT chr11 108041025 108316858 Copy number Lung cancer - 20668451 ATM,C11orf65,NPAT chr11 108041025 108316858 Gain or loss Breast cancer - 20668451 ATM,C11orf65,NPAT chr11 108041025 108316858 Gain or loss Cancer - 20668451 ATM,C11orf65,NPAT chr11 108041025 108316858 Gain or loss Lung cancer - 20668451 ATM,C11orf65,NPAT chr11 108041025 108316858 Gain or loss Ovarian cancer - 20668451 ATM,C11orf65,NPAT chr11 108041025 108316858 Gain or loss Pancreas cancer - 20668451 ATM,C11orf65,NPAT chr11 108041025 108316858 Gain or loss Prostate cancer - 20668451 ATM,C11orf65,NPAT chr11 108041026 108316856 Gain and loss Pancreatic cancer SNP array 17952125 ATM,C11orf65,NPAT chr11 108073504 108249825 Amplification or deletion Cancer Array CGH 17440070 ATM,NPAT chr11 108093558 108239826 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ATM chr11 108093559 108239826 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 ATM chr11 108105203 108301884 Duplication Depressive disorder Perlegen 600K platform 21152026 ATM,C11orf65 chr11 1082184 1087720 Gain and loss Pancreatic cancer SNP array 17952125 MUC2 chr11 108218440 108218540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATM chr11 1082421 1082458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MUC2 chr1 110824897 110835422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440600 chr1 110824897 110835422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440600 chr11 10826557 11150214 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-694K arrays 21546498 EIF4G2,LOC729013,ZBED5 chr11 108307728 108309334 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C11orf65 chr11 10830827 10836196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 10830921 10836165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 10830921 10836165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 10830921 10836190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 108316750 133951370 Triplication Acute myeloid leukemia - 21251322 ABCG4,ACRV1,ADAMTS15,ADAMTS8,ALG9,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CXCR5,DCPS,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KCNJ1,KCNJ5,KDELC2,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NFRKB,NLRX1,NNMT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 110832919 110833019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC440600 chr11 108334980 108335354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf65 chr11 108340267 108340390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 1083430 1083430 Copy number Prostate cancer Illumina GA II sequencer 21307934 MUC2 chr1 110835098 110835195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC440600 chr1 110835235 110835335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC440600 chr11 108381449 108381560 Gain and loss Pancreatic cancer SNP array 17952125 EXPH5 chr11 108381454 108381560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXPH5 chr11 108381455 108381560 Gain and loss Pancreatic cancer SNP array 17952125 EXPH5 chr11 108392805 108392905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXPH5 chr11 108426481 108451755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EXPH5 chr11 108438411 109501154 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf87,DDX10,EXPH5 chr1 110848247 110886138 Gain and loss Pancreatic cancer SNP array 17952125 LOC440600,RBM15 chr11 108496813 108496923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 108496815 108496923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 108496815 108496923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 108518932 112964950 Loss Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 ALG9,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf87,C11orf88,C11orf92,C11orf93,CRYAB,DDX10,DIXDC1,DLAT,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,NCAM1,PIH1D2,POU2AF1,PPP2R1B,PTS,RDX,SDHD,SIK2,TEX12,TIMM8B,ZC3H12C chr11 108595640 108595756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DDX10 chr1 110861396 110862983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440600 chr1 110861396 110862983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440600 chr11 108622497 133635384 Gain Developmental delay affymetrix genechip 500K/SNP 6.47 array 21147756 ABCG4,ACRV1,ADAMTS15,ADAMTS8,ALG9,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CXCR5,DCPS,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ESAM,ETS1,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NFRKB,NLRX1,NNMT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 108720000 111510000 Loss Breast cancer aCGH 21509527 ARHGAP20,BTG4,C11orf53,C11orf87,C11orf88,C11orf92,C11orf93,DDX10,FDX1,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,RDX,SIK2,ZC3H12C chr11 108751043 108751138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX10 chr11 108798085 108801515 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DDX10 chr11 108798085 108801515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX10 chr11 108798085 108801515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX10 chr11 108798136 108801630 Gain and loss Pancreatic cancer SNP array 17952125 DDX10 chr11 108822358 108822390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 108839871 108839971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1088633 1094254 Gain and loss Pancreatic cancer SNP array 17952125 MUC2 chr1 11089178 11245151 Copy number Lung cancer - 20668451 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr1 11089178 11245151 Gain or loss Breast cancer - 20668451 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr1 11089178 11245151 Gain or loss Cancer - 20668451 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr1 11089178 11245151 Gain or loss Lung cancer - 20668451 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr1 11089178 11245151 Gain or loss Ovarian cancer - 20668451 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr1 11089178 11245151 Gain or loss Pancreas cancer - 20668451 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr1 11089178 11245151 Gain or loss Prostate cancer - 20668451 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr1 11089179 11245176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr1 11089179 11245176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr11 108917939 108918039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 108978165 108978254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 109011307 109011406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 109112963 109113063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 109118243 110384198 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf87,FDX1,RDX,ZC3H12C chr11 109176549 109176649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 109189914 109222798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 10920818 10920913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 110927746 110929317 Gain and loss Pancreatic cancer SNP array 17952125 SLC16A4 chr11 109321017 111421334 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ARHGAP20,BTG4,C11orf53,C11orf88,C11orf92,C11orf93,FDX1,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,RDX,ZC3H12C chr11 109358128 109358985 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 110937728 110975619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMTOR5 chr1 110937728 110975619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMTOR5 chr11 109436130 109436204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 109469297 109547776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 109475301 109475369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 109481910 109482235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 109484872 109518365 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 110950001 110952500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAMTOR5 chr11 109511789 109547774 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 109511789 109547774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 110952501 110982500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 109532052 109532104 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 110954839 111582296 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-295K arrays 21546498 CD53,CYMP,KCNA10,KCNA2,KCNA3,LRIF1,PROK1 chr11 109569729 109569809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 109571496 109672647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 109571496 109672647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 109605386 109672547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 109612000 109626779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 109742996 109749132 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 109797835 109797935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 109805804 109840814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 109805804 109840814 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 109805804 109840814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 109841915 109842003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 109869270 109883899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 109874414 109876958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 109878823 109899800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 110988031 111001156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PROK1 chr11 109892607 109892707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 110991101 111244100 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYMP,KCNA10,KCNA2,KCNA3,PROK1 chr11 109952976 110088661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RDX,ZC3H12C chr11 109952976 110088661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RDX,ZC3H12C chr11 109952988 110089122 Gain and loss Pancreatic cancer SNP array 17952125 RDX,ZC3H12C chr11 109964045 110942106 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP20,FDX1,RDX,ZC3H12C chr1 110997087 110997176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PROK1 chr11 109986389 109986488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H12C chr11 110000000 112800000 Copy number Normal - 21701786 ALG9,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,PIH1D2,POU2AF1,PPP2R1B,PTS,RDX,SDHD,SIK2,TEX12,TIMM8B,ZC3H12C chr11 110000000 112800000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ALG9,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,PIH1D2,POU2AF1,PPP2R1B,PTS,RDX,SDHD,SIK2,TEX12,TIMM8B,ZC3H12C chr11 110000000 112800000 Deletion Normal - 22101487 ALG9,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,PIH1D2,POU2AF1,PPP2R1B,PTS,RDX,SDHD,SIK2,TEX12,TIMM8B,ZC3H12C chr11 110000000 112800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALG9,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,PIH1D2,POU2AF1,PPP2R1B,PTS,RDX,SDHD,SIK2,TEX12,TIMM8B,ZC3H12C chr11 110000000 112800000 Gain Multiple myeloma CGH, FISH 16461302 ALG9,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,PIH1D2,POU2AF1,PPP2R1B,PTS,RDX,SDHD,SIK2,TEX12,TIMM8B,ZC3H12C chr11 110000000 115400000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALG9,ANKK1,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,CADM1,CLDN25,CRYAB,DIXDC1,DLAT,DRD2,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,LAYN,LOC100132078,LOC100288346,MIR34B,MIR34C,MIR4301,MIR4491,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RBM7,RDX,REXO2,SDHD,SIK2,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZC3H12C,ZW10 chr11 110000000 115400000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ALG9,ANKK1,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,CADM1,CLDN25,CRYAB,DIXDC1,DLAT,DRD2,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,LAYN,LOC100132078,LOC100288346,MIR34B,MIR34C,MIR4301,MIR4491,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RBM7,RDX,REXO2,SDHD,SIK2,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZC3H12C,ZW10 chr11 110000000 115400000 Loss Urothelial cell carcinoma FISH 18451213 ALG9,ANKK1,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,CADM1,CLDN25,CRYAB,DIXDC1,DLAT,DRD2,FDX1,FDXACB1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,LAYN,LOC100132078,LOC100288346,MIR34B,MIR34C,MIR4301,MIR4491,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RBM7,RDX,REXO2,SDHD,SIK2,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZC3H12C,ZW10 chr11 110000000 120700000 Copy number Emanuel syndrome BAC array CGH platform 21549014 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Deletion Emanuel syndrome References 18184694 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Deletion Non-syndromic sensorineural hearing loss PCR and sequencing 18184694 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Gain Glioblastoma multiforme conventional CGH 21080181 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Loss Cancer array-based techniques 21183584 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Loss Glioblastoma multiforme conventional CGH 21080181 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Loss Myxofibrosarcoma Array CGH 16751306 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Loss Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Translocation Non-syndromic sensorineural hearing loss References 16760666 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 120700000 Translocation Non-syndromic sensorineural hearing loss References 16829213 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 110000000 134452384 Copy number Squamous cell cancer aCGH 20885788 ABCG4,ACAD8,ACRV1,ADAMTS15,ADAMTS8,ALG9,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CXCR5,DCPS,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ESAM,ETS1,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 110000000 134452384 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCG4,ACAD8,ACRV1,ADAMTS15,ADAMTS8,ALG9,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CXCR5,DCPS,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ESAM,ETS1,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 111005895 111005995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11100858 11256832 Gain and loss Pancreatic cancer SNP array 17952125 ANGPTL7,EXOSC10,MASP2,MTOR,MTOR-AS1,SRM chr11 110125502 110125602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RDX chr11 110146842 110146913 Gain and loss Pancreatic cancer SNP array 17952125 RDX chr11 110163965 110164909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RDX chr11 110163965 110164909 Gain and loss Pancreatic cancer SNP array 17952125 RDX chr11 110163965 110164909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RDX chr1 111016610 111019178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110177071 110210490 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 111019074 111019170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 111019075 111019170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 111025062 111025212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYMP chr11 110294179 110324351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FDX1 chr11 110314720 118319416 Loss Neuroblastoma aCGH 20406844 ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARHGAP20,ATP5L,BACE1,BACE1-AS,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,CADM1,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,DIXDC1,DLAT,DRD2,DSCAML1,FDX1,FDXACB1,FXYD2,FXYD6,FXYD6-FXYD2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100652768,LOC283143,MIR34B,MIR34C,MIR4301,MIR4491,MLL,MPZL2,MPZL3,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,PAFAH1B2,PCSK7,PIH1D2,POU2AF1,PPP2R1B,PTS,RBM7,REXO2,RNF214,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,TAGLN,TEX12,TIMM8B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TTC12,UBE4A,USP28,ZBTB16,ZNF259,ZW10 chr11 110325451 110325551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FDX1 chr1 111033599 111857824 LOH Normal High-resolution SNP genotyping 21211785 CD53,CEPT1,CHI3L2,CHIA,CYMP,DENND2D,DRAM2,KCNA10,KCNA2,KCNA3,LRIF1,RP11-165H20.1 chr11 110376946 110421627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 110377709 110377893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110377885 110378102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110400000 112500000 Loss Esophageal squamous carcinoma Array CGH 17470683 ALG9,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,PIH1D2,POU2AF1,PPP2R1B,PTS,SDHD,SIK2,TEX12,TIMM8B chr11 110400000 112500000 Loss Mantle cell lymphoma Array CGH 19029149 ALG9,ARHGAP20,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,PIH1D2,POU2AF1,PPP2R1B,PTS,SDHD,SIK2,TEX12,TIMM8B chr11 110400000 121200000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 110400000 121200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 110400000 121200000 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 110400000 121200000 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 110400000 121200000 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 110400000 130800000 Gain Gastric cancer 5K BAC array CGH 17908304 ABCG4,ACRV1,ADAMTS15,ADAMTS8,ALG9,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGEF12,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf71,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CRYAB,CXCR5,DCPS,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,EI24,ESAM,ETS1,FAM118B,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR4301,MIR4491,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NFRKB,NLRX1,NNMT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RBM7,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,ZBTB16,ZBTB44,ZNF202,ZNF259,ZW10 chr11 110416032 110416142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110416032 110416142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110416054 110416142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110416858 110417028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 110434625 110434725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110504789 110504883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP20 chr1 111052123 111052223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110522244 110544771 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP20 chr11 110525552 110544771 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP20 chr11 110525552 110545420 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP20 chr11 110552225 110552325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP20 chr11 110556184 110556284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP20 chr11 110586301 116658300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALG9,ANKK1,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf71,C11orf88,C11orf92,C11orf93,CADM1,CLDN25,CRYAB,DIXDC1,DLAT,DRD2,FDXACB1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,LAYN,LOC100132078,LOC100288346,LOC283143,MIR34B,MIR34C,MIR4301,MIR4491,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,PIH1D2,POU2AF1,PPP2R1B,PTS,RBM7,REXO2,SDHD,SIK2,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZNF259,ZW10 chr11 110620000 110810000 Gain Burkitt's lymphoma 244 K aCGH platform 19759907 NOT_FOUND chr11 110629697 111575901 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BTG4,C11orf53,C11orf88,C11orf92,C11orf93,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,SIK2 chr11 110631916 110662180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110631916 110662180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110631917 110662180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 111065844 111065882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 11065968 11766121 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CSNK2A1P,GALNTL4,MIR4299 chr11 110669379 110675749 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 110669380 110675749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110669380 110675749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110669381 110675749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110674249 110674349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110675668 110684668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110675668 110684668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110678531 111311733 LOH Normal High-resolution SNP genotyping 21211785 C11orf53,C11orf92,C11orf93,LOC100132078,MIR4491,POU2AF1 chr11 110686983 110687063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110691107 110735804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 110699815 110699854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1 10700000 Deletion Breast cancer Array CGH 19432969 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DEAF1,DENND5A,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LRRC56,LSP1,LYVE1,MIR210,MIR210HG,MIR4298,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMD13,PTDSS2,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 10700000 Gain Alzheimer's disease references 17576883 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DEAF1,DENND5A,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LRRC56,LSP1,LYVE1,MIR210,MIR210HG,MIR4298,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMD13,PTDSS2,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 10700000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DEAF1,DENND5A,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LRRC56,LSP1,LYVE1,MIR210,MIR210HG,MIR4298,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMD13,PTDSS2,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 10700000 Gain Long-qt syndrome references 17576883 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DEAF1,DENND5A,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LRRC56,LSP1,LYVE1,MIR210,MIR210HG,MIR4298,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMD13,PTDSS2,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 10700000 Gain Normal Human genome CGH 73k ARRAY PLATFORM 22144094 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DEAF1,DENND5A,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LRRC56,LSP1,LYVE1,MIR210,MIR210HG,MIR4298,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMD13,PTDSS2,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 10700000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DEAF1,DENND5A,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LRRC56,LSP1,LYVE1,MIR210,MIR210HG,MIR4298,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMD13,PTDSS2,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 10700000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CTSD,CYB5R2,DCHS1,DEAF1,DENND5A,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LRRC56,LSP1,LYVE1,MIR210,MIR210HG,MIR4298,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMD13,PTDSS2,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 110728189 110755367 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 110728189 110755367 Gain or loss Cancer - 20668451 NOT_FOUND chr11 110728189 110755367 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 110728189 110755367 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 110728189 110755367 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 110728189 110755367 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 110728195 110752523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110728210 110755627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110728210 110755627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110729479 110729528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110738765 110738856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110755608 110755679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110759027 110759180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110760631 110788066 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 110765291 110765375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110793896 111590108 LOH Normal High-resolution SNP genotyping 21211785 BTG4,C11orf53,C11orf88,C11orf92,C11orf93,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,SIK2 chr11 110798157 110824167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 111080910 111104152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 111081146 111081216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110817491 111474074 LOH Normal High-resolution SNP genotyping 21211785 BTG4,C11orf53,C11orf88,C11orf92,C11orf93,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,SIK2 chr11 110834420 110834520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111083634 111106611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 110843465 110888274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110843465 110888274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110843465 110888274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110844139 111965683 LOH Normal High-resolution SNP genotyping 21211785 ALG9,BTG4,C11orf1,C11orf52,C11orf53,C11orf57,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDXACB1,HSPB2,HSPB2-C11orf52,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,PIH1D2,POU2AF1,PPP2R1B,SDHD,SIK2,TIMM8B chr11 110845724 111899146 LOH Normal High-resolution SNP genotyping 21211785 ALG9,BTG4,C11orf1,C11orf52,C11orf53,C11orf88,C11orf92,C11orf93,CRYAB,DIXDC1,DLAT,FDXACB1,HSPB2,HSPB2-C11orf52,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,PPP2R1B,SIK2 chr11 110847112 111474074 LOH Normal High-resolution SNP genotyping 21211785 BTG4,C11orf53,C11orf88,C11orf92,C11orf93,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,SIK2 chr1 111086405 111105101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 110886012 111660776 LOH Normal High-resolution SNP genotyping 21211785 ALG9,BTG4,C11orf53,C11orf88,C11orf92,C11orf93,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,PPP2R1B,SIK2 chr11 110888873 110888956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110888873 110888956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110889374 110889450 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110889374 110889450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110890720 110912964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110890720 110912965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110890720 110912965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110891599 111596604 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BTG4,C11orf53,C11orf88,C11orf92,C11orf93,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,SIK2 chr11 110916443 110936998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110916443 110936998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110917210 110917578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110917972 110918072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110959187 110959287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 110978380 111102840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 110978380 111102840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 110978380 111102840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 11098624 11098724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1110001 1115500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 111039892 111136881 Gain Stenocardia MACArray Karyo 57K BAC-chips 21860640 C11orf53 chr11 111039892 111136881 Gain Vasospasm MACArray Karyo 57K BAC-chips 21860640 C11orf53 chr11 111046111 111046200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 111046890 111048338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111059045 111059358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111059045 111059366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111059046 111059284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 111108553 111108651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111108963 111109556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111102841 111142379 Gain or loss Breast cancer - 20668451 C11orf53 chr11 111102841 111142379 Gain or loss Cancer - 20668451 C11orf53 chr11 111102841 111142379 Gain or loss Lung cancer - 20668451 C11orf53 chr11 111102841 111142379 Gain or loss Ovarian cancer - 20668451 C11orf53 chr11 111102841 111142379 Gain or loss Pancreas cancer - 20668451 C11orf53 chr11 111102841 111142379 Gain or loss Prostate cancer - 20668451 C11orf53 chr11 111102842 111142379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf53 chr11 111102842 111142379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf53 chr11 111102848 111142345 Gain and loss Pancreatic cancer SNP array 17952125 C11orf53 chr11 111114526 111114626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 111157075 111190002 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf92,C11orf93 chr11 111158129 111247416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf92,C11orf93,MIR4491,POU2AF1 chr11 111158129 111247416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf92,C11orf93,MIR4491,POU2AF1 chr11 111162220 111247416 Gain and loss Pancreatic cancer SNP array 17952125 C11orf92,C11orf93,MIR4491,POU2AF1 chr11 111169506 111644236 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-696K arrays 21546498 BTG4,C11orf88,C11orf92,C11orf93,LAYN,LOC100132078,MIR34B,MIR34C,MIR4491,POU2AF1,PPP2R1B,SIK2 chr11 11117947 11118047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111117984 111118082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 111197118 111197595 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111197118 111197595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111241665 111292133 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132078,POU2AF1 chr11 11124501 11561500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSNK2A1P,GALNTL4 chr11 111249992 111255363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POU2AF1 chr11 111250134 111255070 Gain and loss Pancreatic cancer SNP array 17952125 POU2AF1 chr11 111255475 111261774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111255475 111261774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111255475 111261774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111265133 111265390 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111265133 111265725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111265133 111265725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111269526 111269626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111127814 111154588 Gain and loss Pancreatic cancer SNP array 17952125 KCNA2 chr1 111127915 111271286 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KCNA2,KCNA3 chr1 111127915 112841800 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADORA3,ATP5F1,C1orf162,C1orf88,CD53,CEPT1,CHI3L2,CHIA,DDX20,DENND2D,DRAM2,FAM212B,KCNA2,KCNA3,KCND3,LOC100129269,LOC100506343,LOC643355,LRIF1,OVGP1,PGCP1,RAP1A,RP11-165H20.1,WDR77 chr11 111284558 111287704 Gain and loss Pancreatic cancer SNP array 17952125 LOC100132078 chr11 111284560 111287704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100132078 chr11 111284560 111287704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100132078 chr11 111284560 111289116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100132078 chr11 111288176 111290026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100132078 chr11 111288176 111290026 Gain and loss Pancreatic cancer SNP array 17952125 LOC100132078 chr11 111288176 111290026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100132078 chr11 111288708 111294938 Gain or loss Breast cancer - 20668451 LOC100132078 chr11 111288708 111294938 Gain or loss Cancer - 20668451 LOC100132078 chr11 111288708 111294938 Gain or loss Lung cancer - 20668451 LOC100132078 chr11 111288708 111294938 Gain or loss Ovarian cancer - 20668451 LOC100132078 chr11 111288708 111294938 Gain or loss Pancreas cancer - 20668451 LOC100132078 chr11 111288708 111294938 Gain or loss Prostate cancer - 20668451 LOC100132078 chr11 111288708 111294938 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LOC100132078 chr11 111292505 111963949 LOH Normal High-resolution SNP genotyping 21211785 ALG9,BTG4,C11orf1,C11orf52,C11orf57,C11orf88,CRYAB,DIXDC1,DLAT,FDXACB1,HSPB2,HSPB2-C11orf52,LAYN,MIR34B,MIR34C,PIH1D2,PPP2R1B,SDHD,SIK2,TIMM8B chr11 111294810 111302805 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 111294847 111302800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111294873 111302804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111294873 111302804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111298945 114098945 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ALG9,ANKK1,BCO2,BTG4,C11orf1,C11orf34,C11orf52,C11orf57,C11orf88,CLDN25,CRYAB,DIXDC1,DLAT,DRD2,FDXACB1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,LAYN,LOC100288346,MIR34B,MIR34C,MIR4301,NCAM1,PIH1D2,PPP2R1B,PTS,SDHD,SIK2,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr11 111299000 120899000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ABCG4,ALG9,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf57,C11orf71,C11orf88,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CRYAB,CXCR5,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,LAYN,LOC100131626,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR4301,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PIH1D2,POU2F3,PPP2R1B,PTS,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC37A4,TAGLN,TBCEL,TEX12,THY1,TIMM8B,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 111304334 111304442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111304338 111304414 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111305795 111351928 Gain and loss Pancreatic cancer SNP array 17952125 BTG4 chr11 111313137 111398515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTG4,C11orf88,MIR34B,MIR34C chr11 111313137 111398515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTG4,C11orf88,MIR34B,MIR34C chr11 111353336 111397913 Gain and loss Pancreatic cancer SNP array 17952125 BTG4,C11orf88,MIR34B,MIR34C chr11 111401374 111440324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf88,LAYN chr11 111401374 111440324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf88,LAYN chr11 111401386 111439793 Gain and loss Pancreatic cancer SNP array 17952125 C11orf88,LAYN chr11 111405792 111406301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf88 chr11 111408436 111408532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111416548 111416648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAYN chr11 111425522 111425610 Gain and loss Pancreatic cancer SNP array 17952125 LAYN chr11 111425522 111425610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAYN chr11 111443735 111450105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111443735 111450105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111443736 111449140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111450178 111461084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111450178 111461084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111450221 111461086 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111460417 111460517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 111460745 111462732 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 111461083 111462679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111461083 111462679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111461083 111462690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111462831 111471727 Genomic rearrangement Pheochromocytoma MLPA 19223516 NOT_FOUND chr11 111462832 111471727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111462832 111471727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111495245 111504144 Amplification or deletion Cancer Array CGH 17440070 SIK2 chr11 111519186 111540050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIK2 chr11 111519186 111540050 Gain and loss Pancreatic cancer SNP array 17952125 SIK2 chr11 111519186 111540050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIK2 chr11 11152327 11152477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 111540327 111600632 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R1B,SIK2 chr11 111543305 111547849 Gain and loss Pancreatic cancer SNP array 17952125 SIK2 chr11 111543305 111548489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIK2 chr11 111543305 111548489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIK2 chr11 111545237 113151087 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG9,BCO2,C11orf1,C11orf34,C11orf52,C11orf57,CRYAB,DIXDC1,DLAT,FDXACB1,HSPB2,HSPB2-C11orf52,IL18,LOC100288346,NCAM1,PIH1D2,PPP2R1B,PTS,SDHD,SIK2,TEX12,TIMM8B chr11 111551418 111594853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIK2 chr11 111551418 111594853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIK2 chr11 111557733 111559124 Gain and loss Pancreatic cancer SNP array 17952125 SIK2 chr11 111557733 111559124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIK2 chr11 111568063 111568201 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 SIK2 chr11 111576997 111577265 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 SIK2 chr1 111158073 111192272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNA2 chr11 1115829 11147515 Copy number Autism exome sequencing 22495311 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,BRSK2,C11orf16,C11orf21,C11orf40,C11orf42,CARS,CCKBR,CD81,CDKN1C,CHRNA10,CNGA4,CTR9,CTSD,CYB5R2,DCHS1,DENND5A,DNHD1,DUSP8,EIF3F,EIF4G2,FAM160A2,FAM99A,FAM99B,FXC1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,IFITM10,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100506082,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC729013,LSP1,LYVE1,MIR4298,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC5B,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,SNORD97,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TH,TMEM41B,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSSC4,TUB,UBQLN3,UBQLNL,WEE1,ZBED5,ZNF143,ZNF195,ZNF214,ZNF215 chr11 111590883 111592619 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIK2 chr11 111602309 111609903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R1B chr11 111602309 111609903 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R1B chr11 111602309 111609903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R1B chr11 111623763 111623857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R1B chr11 111628293 111636522 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R1B chr11 111628293 111636522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R1B chr1 111163354 111163454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNA2 chr11 111636198 111637327 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R1B chr11 111637355 111676894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALG9 chr11 111643223 111644304 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 111643223 111644304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111657501 111657587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALG9 chr11 11172451 11337868 Loss or gain Normal 244K array 17666407 GALNTL4 chr11 111728489 111728595 Gain and loss Pancreatic cancer SNP array 17952125 ALG9 chr11 111728489 111728595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALG9 chr11 111764419 114491510 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKK1,BCO2,C11orf34,C11orf52,C11orf57,C11orf71,CLDN25,CRYAB,DIXDC1,DLAT,DRD2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,LOC100288346,MIR4301,NCAM1,NNMT,NXPE1,NXPE4,PIH1D2,PTS,RBM7,REXO2,SDHD,TEX12,TIMM8B,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr1 111177077 111189737 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 111178877 111189737 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 111179088 111189749 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 111179088 111189749 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 111807613 111807686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 111837451 111838234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIXDC1 chr1 111183990 111202316 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 111185423 111196633 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 111192225 111193086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 111953068 112077505 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BCO2,C11orf57,IL18,SDHD,TEX12,TIMM8B chr11 111955351 111955451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf57 chr11 111958161 111958261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SDHD chr11 111978287 111978385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111198083 111199036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111201855 111207466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 112030000 118460000 Loss Breast cancer aCGH 21509527 AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ATP5L,BACE1,BACE1-AS,BCO2,BUD13,C11orf34,C11orf71,CADM1,CD3D,CD3E,CD3G,CEP164,CLDN25,DRD2,DSCAML1,FXYD2,FXYD6,FXYD6-FXYD2,HTR3A,HTR3B,IFT46,IL10RA,IL18,LOC100131626,LOC100288346,LOC100652768,LOC283143,MIR4301,MLL,MPZL2,MPZL3,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,PAFAH1B2,PCSK7,PTS,RBM7,REXO2,RNF214,SCN2B,SCN4B,SIDT2,SIK3,TAGLN,TEX12,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TTC12,TTC36,UBE4A,USP28,ZBTB16,ZNF259,ZW10 chr11 112039311 112068763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCO2,TEX12 chr11 112053855 112053924 Gain and loss Pancreatic cancer SNP array 17952125 BCO2 chr11 112053855 112053924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCO2 chr11 112084381 112084565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCO2 chr11 112098165 112130221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf34,PTS chr11 112109931 112134890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf34 chr11 112122954 112123359 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C11orf34 chr11 112149301 112149401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111217245 111244081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNA3 chr1 111217245 111244081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNA3 chr11 112178781 112178881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112184693 112185343 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 111219500 111219600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112202309 112900534 LOH Normal High-resolution SNP genotyping 21211785 NCAM1 chr11 11220871 11226616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 11223817 11227282 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 11223858 11227546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 112276263 112276341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112337204 112654368 Loss Non-small cell lung cancer - 21385341 NOT_FOUND chr11 112337302 112654343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 112337302 112654343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 112347267 134927114 Der Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 ABCG4,ACAD8,ACRV1,ADAMTS15,ADAMTS8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C11orf71,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DRD2,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC100131626,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4301,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RBM7,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,THYN1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,ZBTB16,ZBTB44,ZNF202,ZNF259,ZW10 chr11 112353286 112353346 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 112370349 112370486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112370957 116275648 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-698K arrays 21546498 ANKK1,C11orf71,CADM1,CLDN25,DRD2,HTR3A,HTR3B,LOC100288346,LOC283143,MIR4301,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,RBM7,REXO2,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr11 112399484 112399549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112427006 112427038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112447693 112447793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112467549 112467597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112489143 112489227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 11248997 11600125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSNK2A1P,GALNTL4 chr11 11248997 11600125 Gain and loss Pancreatic cancer SNP array 17952125 CSNK2A1P,GALNTL4 chr11 11248997 11600125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK2A1P,GALNTL4 chr11 112492586 112495157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 112500000 114500000 Copy number Squamous cell cancer Real-time PCR 19047905 ANKK1,C11orf71,CLDN25,DRD2,HTR3A,HTR3B,LOC100288346,MIR4301,NCAM1,NNMT,NXPE1,NXPE4,RBM7,REXO2,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr11 112500000 114500000 Loss Mantle cell lymphoma Array CGH 19029149 ANKK1,C11orf71,CLDN25,DRD2,HTR3A,HTR3B,LOC100288346,MIR4301,NCAM1,NNMT,NXPE1,NXPE4,RBM7,REXO2,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr11 112500000 114500000 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 ANKK1,C11orf71,CLDN25,DRD2,HTR3A,HTR3B,LOC100288346,MIR4301,NCAM1,NNMT,NXPE1,NXPE4,RBM7,REXO2,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr11 112500000 121200000 Loss and deletion Multiple myeloma Array CGH 16616336 ABCG4,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C11orf71,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CXCR5,DDX6,DPAGT1,DRD2,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,LOC100131626,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4301,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 112500000 121200000 Loss Malignant peripheral nerve sheath tumor Array CGH 18522746 ABCG4,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C11orf71,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CXCR5,DDX6,DPAGT1,DRD2,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,LOC100131626,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4301,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 112500000 130800000 Gain Gastric cancer 5K BAC array CGH 17908304 ABCG4,ACRV1,ADAMTS15,ADAMTS8,AMICA1,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C11orf71,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DRD2,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100131626,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4301,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NFRKB,NLRX1,NNMT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RBM7,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,ZBTB16,ZBTB44,ZNF202,ZNF259,ZW10 chr11 112569128 112569213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112578307 112653781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 11257979 11262138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 112592419 112592497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111259876 111259957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112603245 112603345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112643623 112643723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 11266887 11266946 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr11 112690461 112759476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 112690461 112759476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 112690515 112749226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1 12700000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CSNK2A1P,CTR9,CTSD,CYB5R2,DCHS1,DEAF1,DENND5A,DKK3,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EIF4G2,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,GALNTL4,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LYVE1,MICAL2,MICALCL,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PARVA,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMD13,PTDSS2,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TEAD1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,USP47,WEE1,ZBED5,ZNF143,ZNF195,ZNF214,ZNF215 chr1 111270019 111270119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112710541 112710641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112743603 112743691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112763723 112776199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 112763723 112776199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 112763723 112776199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 112765447 112765497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112771001 112790500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 112785526 112851211 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NCAM1 chr11 112785528 112851103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCAM1 chr11 112785528 112851103 Gain and loss Pancreatic cancer SNP array 17952125 NCAM1 chr11 112785528 112851103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAM1 chr11 112787044 112787144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112793474 112793552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111279450 111279534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112800000 115400000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ANKK1,C11orf71,CADM1,CLDN25,DRD2,HTR3A,HTR3B,LOC100288346,MIR4301,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,RBM7,REXO2,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr11 112800000 115400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKK1,C11orf71,CADM1,CLDN25,DRD2,HTR3A,HTR3B,LOC100288346,MIR4301,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,RBM7,REXO2,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr11 112800000 115400000 Loss Non-small cell lung cancer - 21385341 ANKK1,C11orf71,CADM1,CLDN25,DRD2,HTR3A,HTR3B,LOC100288346,MIR4301,NCAM1,NNMT,NXPE1,NXPE2,NXPE4,RBM7,REXO2,TMPRSS5,TTC12,USP28,ZBTB16,ZW10 chr11 112800000 120700000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG4,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C11orf71,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CXCR5,DDX6,DPAGT1,DRD2,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,LOC100131626,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4301,MIR4492,MLL,MPZL2,MPZL3,NCAM1,NLRX1,NNMT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RBM7,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,ZBTB16,ZNF259,ZW10 chr11 112800000 127400000 Loss Hepatocellular carcinoma Array CGH 16750200 ABCG4,ACRV1,AMICA1,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BLID,BSX,BUD13,C11orf63,C11orf71,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DRD2,DSCAML1,EI24,ESAM,FAM118B,FEZ1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LOC100131626,LOC100288346,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4301,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAM1,NLRX1,NNMT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PUS3,PVRL1,RBM7,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SORL1,SPA17,SRPR,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,ZBTB16,ZNF202,ZNF259,ZW10 chr11 11282610 11282710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 112840169 112840259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM1 chr1 111291266 111291409 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr11 112912847 112912990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM1 chr1 111291334 111308089 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 111291336 111308089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111291336 111308089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 112938206 112938288 Gain and loss Pancreatic cancer SNP array 17952125 NCAM1 chr11 112938206 112938288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAM1 chr1 111296130 114451961 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADORA3,AKR7A2P1,AP4B1,AP4B1-AS1,ATP5F1,BCL2L15,C1orf162,C1orf88,CAPZA1,CD53,CEPT1,CHI3L2,CHIA,CTTNBP2NL,DCLRE1B,DDX20,DENND2D,DRAM2,FAM19A3,FAM212B,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIF1,LRIG2,MAGI3,MIR4256,MOV10,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SLC16A1,ST7L,WDR77,WNT2B chr1 111296498 111296587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 112966219 112966316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM1 chr11 112986610 112986679 Gain and loss Pancreatic cancer SNP array 17952125 NCAM1 chr11 112986610 112986679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAM1 chr11 112994393 112997586 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NCAM1 chr11 113054758 113054851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM1 chr11 113063483 113082305 Gain and loss Pancreatic cancer SNP array 17952125 NCAM1 chr11 113065275 113082305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAM1 chr11 11306969 13282271 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CSNK2A1P,DKK3,GALNTL4,LOC100506305,MICAL2,MICALCL,MIR4299,PARVA,RASSF10,TEAD1,USP47 chr11 113074659 113074759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM1 chr11 113109121 113149635 Gain and loss Pancreatic cancer SNP array 17952125 LOC100288346,NCAM1 chr11 113109123 113149635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100288346,NCAM1 chr11 113109123 113149635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288346,NCAM1 chr11 113109917 113110017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM1 chr11 113137058 113137147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM1 chr11 113144048 113144998 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100288346,NCAM1 chr11 1131501 1187000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 113165163 113167092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 113173806 113251466 Gain or loss Breast cancer - 20668451 TTC12 chr11 113173806 113251466 Gain or loss Cancer - 20668451 TTC12 chr11 113173806 113251466 Gain or loss Lung cancer - 20668451 TTC12 chr11 113173806 113251466 Gain or loss Ovarian cancer - 20668451 TTC12 chr11 113173806 113251466 Gain or loss Pancreas cancer - 20668451 TTC12 chr11 113173806 113251466 Gain or loss Prostate cancer - 20668451 TTC12 chr11 113173808 113251466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC12 chr11 113173808 113251466 Gain and loss Pancreatic cancer SNP array 17952125 TTC12 chr11 113173808 113251466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC12 chr11 113219961 113252116 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC12 chr11 113230672 113230762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC12 chr1 111323224 111323651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 113235278 113235380 Gain and loss Pancreatic cancer SNP array 17952125 TTC12 chr11 113235278 113235381 Gain and loss Pancreatic cancer SNP array 17952125 TTC12 chr11 113235278 113235381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC12 chr11 113257269 113257369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 11326219 11343721 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GALNTL4 chr11 113280729 113322492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DRD2,MIR4301 chr11 113280729 113322492 Gain and loss Pancreatic cancer SNP array 17952125 DRD2,MIR4301 chr11 113280729 113322492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRD2,MIR4301 chr11 113288255 113288355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DRD2 chr11 113311020 113311392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DRD2 chr1 111334152 111334225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 11334201 11339600 Deletion Glioma mate-paired sequence 20126413 GALNTL4 chr11 113351040 113366241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 113351040 113366241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 113351040 113366242 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 11335533 11346954 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GALNTL4 chr11 11336195 11337603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNTL4 chr11 113364198 113364298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 113435525 113626576 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS5,ZW10 chr11 113435525 113626605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS5,ZW10 chr11 113435525 113626605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS5,ZW10 chr11 113435640 113626607 Gain or loss Breast cancer - 20668451 TMPRSS5,ZW10 chr11 113435640 113626607 Gain or loss Cancer - 20668451 TMPRSS5,ZW10 chr11 113435640 113626607 Gain or loss Lung cancer - 20668451 TMPRSS5,ZW10 chr11 113435640 113626607 Gain or loss Ovarian cancer - 20668451 TMPRSS5,ZW10 chr11 113435640 113626607 Gain or loss Pancreas cancer - 20668451 TMPRSS5,ZW10 chr11 113435640 113626607 Gain or loss Prostate cancer - 20668451 TMPRSS5,ZW10 chr11 11343721 14549688 LOH Normal High-resolution SNP genotyping 21211785 ARNTL,BTBD10,COPB1,CSNK2A1P,DKK3,FAR1,GALNTL4,LOC100506305,MICAL2,MICALCL,MIR4299,PARVA,PSMA1,PTH,RASSF10,RRAS2,SPON1,TEAD1,USP47 chr11 1 134452384 Deletion Medulloblastoma SNP arrays 21979893 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,ANO9,AP2A2,AP5B1,APBB1,API5,APIP,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL2,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATHL1,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,B4GALNT4,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BET1L,BIRC2,BIRC3,BLID,BRMS1,BRSK2,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf21,C11orf24,C11orf30,C11orf31,C11orf34,C11orf35,C11orf40,C11orf42,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CARS,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD151,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD81,CD82,CDC42BPG,CDC42EP2,CDCA5,CDHR5,CDK2AP2,CDKN1C,CDON,CELF1,CEND1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHID1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSD,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEAF1,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DRD4,DSCAML1,DTX4,DUSP8,DYNC2H1,E2F8,EED,EEF1G,EFCAB4A,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,EPS8L2,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAM99A,FAM99B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H19,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRAS,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IFT46,IGF2,IGF2-AS,IGHMBP2,IGSF22,IGSF9B,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INS,INS-IGF2,INSC,INTS4,INTS5,IPO7,IRF7,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ1,KCNJ11,KCNJ5,KCNK4,KCNK7,KCNQ1,KCNQ1DN,KCNQ1OT1,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRT8P41,KRTAP5-1,KRTAP5-10,KRTAP5-11,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00167,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133161,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC143666,LOC221122,LOC254100,LOC255512,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC283299,LOC338651,LOC338739,LOC341056,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC653486,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRC56,LRRN4CL,LRTOMT,LSP1,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4298,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4686,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR4697,MIR483,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR675,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOB2,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRE,MRGPRF,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL23,MRPL23-AS1,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NAP1L4,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCAPD3,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NFRKB,NLRP10,NLRP14,NLRP6,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRIP3,NRXN2,NS3BP,NTM,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODF3,ODZ4,OLFML1,OMP,OPCML,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OSBPL5,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PARVA,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDDC1,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDA2,PHLDB1,PHOX2A,PHRF1,PICALM,PIDD,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PKP3,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,PNPLA2,POLA2,POLD3,POLD4,POLR2G,POLR2L,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PSMD13,PTDSS2,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RASSF7,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIC8A,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNH1,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPLP2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1C1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCT,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIGIRR,SIK2,SIK3,SIPA1,SIRT3,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A18,SLC22A18AS,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A22,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA52,SNORA54,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX19,SNX32,SORL1,SOX6,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,ST5,STARD10,STIM1,STIP1,STK33,STT3A,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT8,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TALDO1,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,TH,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM41B,TMEM45B,TMEM80,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53AIP1,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPM5,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF202,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 1 134452384 Deletion Normal Affymetrix 250K SNP array 21412953 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,ANO9,AP2A2,AP5B1,APBB1,API5,APIP,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL2,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATHL1,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,B4GALNT4,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BET1L,BIRC2,BIRC3,BLID,BRMS1,BRSK2,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf21,C11orf24,C11orf30,C11orf31,C11orf34,C11orf35,C11orf40,C11orf42,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CARS,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD151,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD81,CD82,CDC42BPG,CDC42EP2,CDCA5,CDHR5,CDK2AP2,CDKN1C,CDON,CELF1,CEND1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHID1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSD,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEAF1,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DRD4,DSCAML1,DTX4,DUSP8,DYNC2H1,E2F8,EED,EEF1G,EFCAB4A,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,EPS8L2,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAM99A,FAM99B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H19,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRAS,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IFT46,IGF2,IGF2-AS,IGHMBP2,IGSF22,IGSF9B,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INS,INS-IGF2,INSC,INTS4,INTS5,IPO7,IRF7,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ1,KCNJ11,KCNJ5,KCNK4,KCNK7,KCNQ1,KCNQ1DN,KCNQ1OT1,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRT8P41,KRTAP5-1,KRTAP5-10,KRTAP5-11,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00167,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133161,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC143666,LOC221122,LOC254100,LOC255512,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC283299,LOC338651,LOC338739,LOC341056,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC653486,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRC56,LRRN4CL,LRTOMT,LSP1,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4298,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4686,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR4697,MIR483,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR675,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOB2,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRE,MRGPRF,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL23,MRPL23-AS1,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NAP1L4,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCAPD3,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NFRKB,NLRP10,NLRP14,NLRP6,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRIP3,NRXN2,NS3BP,NTM,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODF3,ODZ4,OLFML1,OMP,OPCML,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OSBPL5,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PARVA,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDDC1,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDA2,PHLDB1,PHOX2A,PHRF1,PICALM,PIDD,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PKP3,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,PNPLA2,POLA2,POLD3,POLD4,POLR2G,POLR2L,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PSMD13,PTDSS2,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RASSF7,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIC8A,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNH1,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPLP2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1C1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCT,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIGIRR,SIK2,SIK3,SIPA1,SIRT3,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A18,SLC22A18AS,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A22,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA52,SNORA54,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX19,SNX32,SORL1,SOX6,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,ST5,STARD10,STIM1,STIP1,STK33,STT3A,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT8,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TALDO1,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,TH,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM41B,TMEM45B,TMEM80,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53AIP1,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPM5,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF202,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 1 134452384 Gain Medulloblastoma SNP arrays 21979893 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,ANO9,AP2A2,AP5B1,APBB1,API5,APIP,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL2,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATHL1,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,B4GALNT4,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BET1L,BIRC2,BIRC3,BLID,BRMS1,BRSK2,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf21,C11orf24,C11orf30,C11orf31,C11orf34,C11orf35,C11orf40,C11orf42,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CARS,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD151,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD81,CD82,CDC42BPG,CDC42EP2,CDCA5,CDHR5,CDK2AP2,CDKN1C,CDON,CELF1,CEND1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHID1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSD,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEAF1,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DRD4,DSCAML1,DTX4,DUSP8,DYNC2H1,E2F8,EED,EEF1G,EFCAB4A,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,EPS8L2,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAM99A,FAM99B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H19,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRAS,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IFT46,IGF2,IGF2-AS,IGHMBP2,IGSF22,IGSF9B,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INS,INS-IGF2,INSC,INTS4,INTS5,IPO7,IRF7,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ1,KCNJ11,KCNJ5,KCNK4,KCNK7,KCNQ1,KCNQ1DN,KCNQ1OT1,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRT8P41,KRTAP5-1,KRTAP5-10,KRTAP5-11,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00167,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133161,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC143666,LOC221122,LOC254100,LOC255512,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC283299,LOC338651,LOC338739,LOC341056,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC653486,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRC56,LRRN4CL,LRTOMT,LSP1,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4298,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4686,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR4697,MIR483,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR675,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOB2,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRE,MRGPRF,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL23,MRPL23-AS1,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NAP1L4,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCAPD3,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NFRKB,NLRP10,NLRP14,NLRP6,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRIP3,NRXN2,NS3BP,NTM,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODF3,ODZ4,OLFML1,OMP,OPCML,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OSBPL5,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PARVA,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDDC1,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDA2,PHLDB1,PHOX2A,PHRF1,PICALM,PIDD,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PKP3,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,PNPLA2,POLA2,POLD3,POLD4,POLR2G,POLR2L,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PSMD13,PTDSS2,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RASSF7,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIC8A,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNH1,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPLP2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1C1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCT,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIGIRR,SIK2,SIK3,SIPA1,SIRT3,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A18,SLC22A18AS,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A22,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA52,SNORA54,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX19,SNX32,SORL1,SOX6,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,ST5,STARD10,STIM1,STIP1,STK33,STT3A,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT8,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TALDO1,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,TH,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM41B,TMEM45B,TMEM80,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53AIP1,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPM5,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF202,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 1 134452384 Gain Normal - 20616218 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,ANO9,AP2A2,AP5B1,APBB1,API5,APIP,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL2,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATHL1,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,B4GALNT4,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BET1L,BIRC2,BIRC3,BLID,BRMS1,BRSK2,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf21,C11orf24,C11orf30,C11orf31,C11orf34,C11orf35,C11orf40,C11orf42,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CARS,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD151,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD81,CD82,CDC42BPG,CDC42EP2,CDCA5,CDHR5,CDK2AP2,CDKN1C,CDON,CELF1,CEND1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHID1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSD,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEAF1,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DRD4,DSCAML1,DTX4,DUSP8,DYNC2H1,E2F8,EED,EEF1G,EFCAB4A,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,EPS8L2,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAM99A,FAM99B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H19,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRAS,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IFT46,IGF2,IGF2-AS,IGHMBP2,IGSF22,IGSF9B,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INS,INS-IGF2,INSC,INTS4,INTS5,IPO7,IRF7,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ1,KCNJ11,KCNJ5,KCNK4,KCNK7,KCNQ1,KCNQ1DN,KCNQ1OT1,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRT8P41,KRTAP5-1,KRTAP5-10,KRTAP5-11,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00167,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133161,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC143666,LOC221122,LOC254100,LOC255512,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC283299,LOC338651,LOC338739,LOC341056,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC653486,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRC56,LRRN4CL,LRTOMT,LSP1,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4298,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4686,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR4697,MIR483,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR675,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOB2,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRE,MRGPRF,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL23,MRPL23-AS1,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NAP1L4,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCAPD3,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NFRKB,NLRP10,NLRP14,NLRP6,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRIP3,NRXN2,NS3BP,NTM,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODF3,ODZ4,OLFML1,OMP,OPCML,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OSBPL5,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PARVA,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDDC1,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDA2,PHLDB1,PHOX2A,PHRF1,PICALM,PIDD,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PKP3,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,PNPLA2,POLA2,POLD3,POLD4,POLR2G,POLR2L,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PSMD13,PTDSS2,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RASSF7,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIC8A,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNH1,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPLP2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1C1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCT,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIGIRR,SIK2,SIK3,SIPA1,SIRT3,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A18,SLC22A18AS,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A22,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA52,SNORA54,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX19,SNX32,SORL1,SOX6,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,ST5,STARD10,STIM1,STIP1,STK33,STT3A,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT8,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TALDO1,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,TH,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM41B,TMEM45B,TMEM80,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53AIP1,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPM5,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF202,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 1 134452384 Indels Normal Affymetrix 6.0 array 21223598 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,ANO9,AP2A2,AP5B1,APBB1,API5,APIP,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL2,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATHL1,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,B4GALNT4,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BET1L,BIRC2,BIRC3,BLID,BRMS1,BRSK2,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf21,C11orf24,C11orf30,C11orf31,C11orf34,C11orf35,C11orf40,C11orf42,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CARS,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD151,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD81,CD82,CDC42BPG,CDC42EP2,CDCA5,CDHR5,CDK2AP2,CDKN1C,CDON,CELF1,CEND1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHID1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSD,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEAF1,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DRD4,DSCAML1,DTX4,DUSP8,DYNC2H1,E2F8,EED,EEF1G,EFCAB4A,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,EPS8L2,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAM99A,FAM99B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H19,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRAS,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IFT46,IGF2,IGF2-AS,IGHMBP2,IGSF22,IGSF9B,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INS,INS-IGF2,INSC,INTS4,INTS5,IPO7,IRF7,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ1,KCNJ11,KCNJ5,KCNK4,KCNK7,KCNQ1,KCNQ1DN,KCNQ1OT1,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRT8P41,KRTAP5-1,KRTAP5-10,KRTAP5-11,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00167,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133161,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC143666,LOC221122,LOC254100,LOC255512,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC283299,LOC338651,LOC338739,LOC341056,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC653486,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRC56,LRRN4CL,LRTOMT,LSP1,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4298,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4686,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR4697,MIR483,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR675,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOB2,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRE,MRGPRF,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL23,MRPL23-AS1,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NAP1L4,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCAPD3,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NFRKB,NLRP10,NLRP14,NLRP6,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRIP3,NRXN2,NS3BP,NTM,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODF3,ODZ4,OLFML1,OMP,OPCML,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OSBPL5,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PARVA,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDDC1,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDA2,PHLDB1,PHOX2A,PHRF1,PICALM,PIDD,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PKP3,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,PNPLA2,POLA2,POLD3,POLD4,POLR2G,POLR2L,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PSMD13,PTDSS2,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RASSF7,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIC8A,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNH1,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPLP2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1C1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCT,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIGIRR,SIK2,SIK3,SIPA1,SIRT3,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A18,SLC22A18AS,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A22,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA52,SNORA54,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX19,SNX32,SORL1,SOX6,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,ST5,STARD10,STIM1,STIP1,STK33,STT3A,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT8,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TALDO1,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,TH,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM41B,TMEM45B,TMEM80,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53AIP1,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPM5,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF202,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 113462743 113462861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 11346954 13075268 LOH Normal High-resolution SNP genotyping 21211785 CSNK2A1P,DKK3,GALNTL4,LOC100506305,MICAL2,MICALCL,MIR4299,PARVA,RASSF10,TEAD1,USP47 chr11 113471599 113659023 Amplification or deletion Cancer Array CGH 17440070 CLDN25,TMPRSS5,ZW10 chr11 113474879 113746846 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLDN25,TMPRSS5,USP28,ZW10 chr1 11134994 11135057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOSC10 chr11 1 135006516 Gain Gastric cancer 5K BAC array CGH 17908304 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,ANO9,AP2A2,AP5B1,APBB1,API5,APIP,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL2,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATHL1,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,B4GALNT4,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BET1L,BIRC2,BIRC3,BLID,BRMS1,BRSK2,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf21,C11orf24,C11orf30,C11orf31,C11orf34,C11orf35,C11orf40,C11orf42,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CARS,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD151,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD81,CD82,CDC42BPG,CDC42EP2,CDCA5,CDHR5,CDK2AP2,CDKN1C,CDON,CELF1,CEND1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHID1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSD,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEAF1,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DRD4,DSCAML1,DTX4,DUSP8,DYNC2H1,E2F8,EED,EEF1G,EFCAB4A,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,EPS8L2,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAM99A,FAM99B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H19,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRAS,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IFT46,IGF2,IGF2-AS,IGHMBP2,IGSF22,IGSF9B,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INS,INS-IGF2,INSC,INTS4,INTS5,IPO7,IRF7,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ1,KCNJ11,KCNJ5,KCNK4,KCNK7,KCNQ1,KCNQ1DN,KCNQ1OT1,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRT8P41,KRTAP5-1,KRTAP5-10,KRTAP5-11,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00167,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133161,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC143666,LOC221122,LOC254100,LOC255512,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC283299,LOC338651,LOC338739,LOC341056,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC653486,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRC56,LRRN4CL,LRTOMT,LSP1,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4298,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4686,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR4697,MIR483,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR675,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOB2,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRE,MRGPRF,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL23,MRPL23-AS1,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NAP1L4,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCAPD3,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NFRKB,NLRP10,NLRP14,NLRP6,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRIP3,NRXN2,NS3BP,NTM,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODF3,ODZ4,OLFML1,OMP,OPCML,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OSBPL5,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PARVA,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDDC1,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDA2,PHLDB1,PHOX2A,PHRF1,PICALM,PIDD,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PKP3,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,PNPLA2,POLA2,POLD3,POLD4,POLR2G,POLR2L,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PSMD13,PTDSS2,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RASSF7,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIC8A,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNH1,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPLP2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1C1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCT,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIGIRR,SIK2,SIK3,SIPA1,SIRT3,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A18,SLC22A18AS,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A22,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA52,SNORA54,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX19,SNX32,SORL1,SOX6,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,ST5,STARD10,STIM1,STIP1,STK33,STT3A,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT8,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TALDO1,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,TH,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM41B,TMEM45B,TMEM80,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53AIP1,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPM5,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF202,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 11350514 11350614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL4 chr11 113517369 113548014 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 111351845 111359675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 113547907 113547985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1135537 1708184 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 BRSK2,DUSP8,FAM99A,FAM99B,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,LOC255512,LOC338651,MOB2,MUC5B,TOLLIP chr11 113613716 113636589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZW10 chr11 113633763 113688448 Gain and loss Pancreatic cancer SNP array 17952125 CLDN25,USP28,ZW10 chr11 113671744 113688448 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 USP28 chr11 113671745 113688448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP28 chr11 113671745 113688448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP28 chr1 111372343 111394704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 113767380 113776349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR3B chr11 113775892 113776263 Gain and loss Pancreatic cancer SNP array 17952125 HTR3B chr11 113776548 113784856 Gain and loss Pancreatic cancer SNP array 17952125 HTR3B chr11 113776586 113784843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HTR3B chr11 113776586 113784843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR3B chr11 113811021 113811121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTR3B chr11 113815362 113826211 Gain and loss Pancreatic cancer SNP array 17952125 HTR3B chr11 113815387 113826208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HTR3B chr11 113815387 113826208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR3B chr1 111385979 111386068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 113877495 114024335 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZBTB16 chr11 113891670 113891780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 113897648 113935790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB16 chr11 113897648 113935790 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB16 chr11 113897648 113935790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB16 chr11 113902371 113902440 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 113903061 113903163 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 113903061 113903163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1 1391954 Deletion Cancer Affymetrix 250K Sty array 20164920 ANO9,AP2A2,ATHL1,B4GALNT4,BET1L,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC100133161,LOC143666,LOC255512,LOC653486,LRRC56,MIR210,MIR210HG,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,TALDO1,TMEM80,TOLLIP,TSPAN4 chr11 113930108 113937123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZBTB16 chr11 113930117 113937132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZBTB16 chr11 113933150 116338940 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf71,CADM1,LOC283143,NNMT,NXPE1,NXPE2,NXPE4,RBM7,REXO2,ZBTB16 chr11 11394092 11394192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL4 chr1 111394291 111439766 Gain and loss Pancreatic cancer SNP array 17952125 CD53 chr11 113943127 113943226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB16 chr11 113946524 113971694 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB16 chr11 113946524 113971694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB16 chr11 113947171 113971682 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB16 chr11 113991315 113991398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB16 chr11 114026839 114026872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB16 chr11 114037983 114038083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB16 chr11 114043917 114044400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZBTB16 chr11 114054467 114083495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB16 chr11 114057730 114057830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB16 chr11 114071988 114072085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB16 chr11 114105524 114105570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB16 chr11 114109336 114133189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZBTB16 chr11 1141627 1152360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1141627 1152360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111417807 111417907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD53 chr1 111421057 111642223 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-279K arrays 21546498 CD53,LRIF1 chr11 114238335 114238435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 114350685 133951685 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ABCG4,ACRV1,ADAMTS15,ADAMTS8,AMICA1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NFRKB,NLRX1,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,VSIG2,VWA5A,ZBTB44,ZNF202,ZNF259 chr1 111437707 111437807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD53 chr1 111441843 111459073 Gain and loss Pancreatic cancer SNP array 17952125 CD53 chr11 114422822 114422922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NXPE1 chr11 114439261 114439361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 114480198 114515605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 114500000 121200000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,NXPE2,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 114500000 121200000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,NXPE2,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 114500000 121200000 Deletion Adenoid cystic carcinoma Array CGH 18698036 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,NXPE2,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 114500000 121200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,NXPE2,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 114500000 121200000 Gain and amplification Multiple myeloma Array CGH 16616336 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,NXPE2,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 114500000 121200000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,NXPE2,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 114500000 121200000 Gain Salivary gland adenoid cystic carcinoma Genome-wide scanning BAC array 17545515 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CADM1,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,NXPE2,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 11450760 11450860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL4 chr11 114533231 114632257 Gain Stenocardia MACArray Karyo 58K BAC-chips 21860640 NXPE2 chr11 114533231 114632257 Gain Vasospasm MACArray Karyo 58K BAC-chips 21860640 NXPE2 chr11 114550235 114880322 Gain and loss Pancreatic cancer SNP array 17952125 NXPE2 chr11 114552404 114880322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NXPE2 chr11 114581997 114912893 Loss Neuroblastoma References 19638189 NOT_FOUND chr11 114596329 115047558 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CADM1 chr1 111461478 111484238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111461478 111484238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 114662401 114662492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11146673 11146736 Gain and loss Pancreatic cancer SNP array 17952125 EXOSC10 chr11 114678042 114709414 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 114682413 115297985 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CADM1 chr1 111471560 111471660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 114721884 114868905 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr11 114726432 114726464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 114727732 114727832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 114733738 114733838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111482374 111498103 Gain and loss Pancreatic cancer SNP array 17952125 LRIF1 chr1 111483772 111529247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRIF1 chr1 111483772 111529247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRIF1 chr11 114846558 114846648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 11486692 11526175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL4 chr11 114913878 114913931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 114914794 114915444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 114916677 114959535 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 114996720 114996820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 115003012 115003112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 115003012 115003112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 115060741 115060800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM1 chr11 115067582 115067666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM1 chr11 115133379 115133479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM1 chr11 115242968 115243068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM1 chr11 1152663 1178504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1 1529449 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ANO9,AP2A2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC100133161,LOC143666,LOC255512,LOC653486,LRRC56,MIR210,MIR210HG,MOB2,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,TALDO1,TMEM80,TOLLIP,TSPAN4 chr1 111531326 111548554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111531326 111548554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 115324907 115359208 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CADM1 chr11 115327798 134437143 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCG4,ACAD8,ACRV1,ADAMTS15,ADAMTS8,AMICA1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C1QTNF5,C2CD2L,CADM1,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAPD3,NFRKB,NLRX1,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,THYN1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202,ZNF259 chr11 115333655 115333755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM1 chr11 115400000 120700000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 120700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 120700000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 120700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 120700000 Gain Glioblastoma multiforme aCGH 21080181 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 120700000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 120700000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 120700000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 120700000 Loss Non-small cell lung cancer - 21385341 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIK4,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC649133,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 123500000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BLID,BSX,BUD13,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLMP,CRTAM,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HINFP,HMBS,HSPA8,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3656,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN3B,SCN4B,SIDT2,SIK3,SLC37A4,SORL1,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 123500000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGEF12,ATP5L,BACE1,BACE1-AS,BCL9L,BLID,BSX,BUD13,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLMP,CRTAM,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HINFP,HMBS,HSPA8,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3656,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,NLRX1,OAF,PAFAH1B2,PCSK7,PDZD3,PHLDB1,POU2F3,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN3B,SCN4B,SIDT2,SIK3,SLC37A4,SORL1,TAGLN,TBCEL,TECTA,THY1,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 115400000 130300000 Loss Glioblastoma multiforme aCGH 21080181 ABCG4,ACRV1,ADAMTS8,AMICA1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,IFT46,IL10RA,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NFRKB,NLRX1,NRGN,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,VSIG2,VWA5A,ZBTB44,ZNF202,ZNF259 chr11 115400000 134452384 Duplication Heart disease Affymetrix 6.1 hybridization 20551144 ABCG4,ACAD8,ACRV1,ADAMTS15,ADAMTS8,AMICA1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAPD3,NFRKB,NLRX1,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,THYN1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202,ZNF259 chr11 115400000 134452384 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCG4,ACAD8,ACRV1,ADAMTS15,ADAMTS8,AMICA1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAPD3,NFRKB,NLRX1,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,THYN1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202,ZNF259 chr11 115400000 134452384 Loss Malignant fibrous histiocytomas aCGH 21085701 ABCG4,ACAD8,ACRV1,ADAMTS15,ADAMTS8,AMICA1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC100131626,LOC100499227,LOC100652768,LOC283143,LOC283174,LOC283177,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAPD3,NFRKB,NLRX1,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,THYN1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202,ZNF259 chr11 115477027 115479340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 115555069 115589544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 115571563 115571632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 115581712 115593142 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 115630707 115662757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC283143 chr11 115647522 115647592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111565053 111575221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 115664909 115664984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 115674008 115674040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 115674527 115698265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 11567892 11567992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL4 chr11 115696271 115696371 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 115696271 115696371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111571804 111587583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111571804 111587583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 115763304 115763404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 115770555 116338940 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 115828212 118580638 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ATP5L,BACE1,BACE1-AS,BUD13,CD3D,CD3E,CD3G,CEP164,DSCAML1,FXYD2,FXYD6,FXYD6-FXYD2,IFT46,IL10RA,LOC100131626,LOC100652768,MLL,MPZL2,MPZL3,PAFAH1B2,PCSK7,PHLDB1,RNF214,SCN2B,SCN4B,SIDT2,SIK3,TAGLN,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TREH,TTC36,UBE4A,ZNF259 chr11 115858318 115858408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 115891412 116980657 Amplification Breast cancer FISH 17142309 APOA1,APOA4,APOA5,APOC3,BUD13,SIK3,ZNF259 chr1 111594399 111600860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 115974418 115974688 Deletion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr1 111600000 115900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CEPT1,CHI3L2,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111600000 115900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CEPT1,CHI3L2,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111600000 115900000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CEPT1,CHI3L2,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111600000 115900000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CEPT1,CHI3L2,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111600000 117600000 Loss Prostate cancer Array CGH 16573809 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD58,CEPT1,CHI3L2,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,FAM19A3,FAM212B,HIPK1,IGSF3,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAB21L3,MAGI3,MIR320B1,MIR4256,MOV10,NGF,NHLH2,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTGFRN,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,SLC22A15,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,VANGL1,WDR77,WNT2B chr1 111600000 148000000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ACP6,ADAM30,ADORA3,AKR7A2P1,AMPD1,ANKRD20A12P,ANKRD34A,ANKRD35,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,BCAS2,BCL2L15,BCL9,C1orf162,C1orf88,CAPZA1,CASQ2,CD101,CD160,CD2,CD58,CEPT1,CHD1L,CHI3L2,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,DENND2D,DRAM2,EMBP1,FAM19A3,FAM212B,FAM46C,FAM72B,FAM72D,FCGR1B,FLJ39739,FMO5,GDAP2,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HAO2,HFE2,HIPK1,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,HYDIN2,IGSF3,ITGA10,KCND3,LINC00622,LINC00623,LINC00624,LIX1L,LOC100129269,LOC100130000,LOC100286793,LOC100506343,LOC643355,LOC643441,LOC653513,LOC728875,LOC728989,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR320B1,MIR4256,MIR5087,MIR942,MOV10,NBPF10,NBPF11,NBPF24,NBPF7,NBPF9,NGF,NHLH2,NOTCH2,NOTCH2NL,NRAS,NUDT17,OLFML3,OVGP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGCP1,PHGDH,PHTF1,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PPM1J,PRKAB2,PTGFRN,PTPN22,RAP1A,RBM8A,REG4,RHOC,RNF115,RP11-165H20.1,RSBN1,SEC22B,SIKE1,SLC16A1,SLC22A15,SPAG17,SRGAP2B,ST7L,SYCP1,SYT6,TBX15,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,TXNIP,VANGL1,VTCN1,WARS2,WDR3,WDR77,WNT2B,ZNF697 chr1 111601260 111607675 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116035461 116080862 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 116050507 116050607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116088932 116089006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116092106 116092177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1 16100000 Loss Breast cancer Array CGH 16608533 ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,CALCA,CALCB,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COPB1,CSNK2A1P,CTR9,CTSD,CYB5R2,CYP2R1,DCHS1,DEAF1,DENND5A,DKK3,DNHD1,DRD4,DUSP8,EFCAB4A,EIF3F,EIF4G2,EPS8L2,FAM160A2,FAM99A,FAM99B,FAR1,FXC1,GALNTL4,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,INSC,IPO7,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100133161,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LYVE1,MICAL2,MICALCL,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,NAP1L4,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PARVA,PDDC1,PDE3B,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PSMA1,PSMD13,PTDSS2,PTH,RASSF10,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RRAS2,RRM1,RRP8,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TEAD1,TH,TMEM41B,TMEM80,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,USP47,WEE1,ZBED5,ZNF143,ZNF195,ZNF214,ZNF215 chr11 116108204 116108304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116121012 116121106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116124096 116148914 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 116124096 116148914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116124096 116148914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116124103 116148914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116139429 116179996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 116151036 116151802 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 116154487 116163949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116154487 116163949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116154487 116163949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116165090 116449603 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-711K arrays 21546498 NOT_FOUND chr11 116165297 116167794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116165299 116167794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116165299 116167794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116166001 116167500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 116167501 116169000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 116171290 116171380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116173576 116178898 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 116194001 116215500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 116196628 116199221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116196628 116199221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116196628 116199230 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116205834 116208997 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116205834 116208998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116205834 116208998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116211677 116213571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116211679 116213548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116217676 116217988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 116219328 116474347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116219328 116474347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116219330 116474203 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116227321 134373617 Gain Non-syndromic sensorineural hearing loss array CGH 18496225 ABCG4,ACAD8,ACRV1,ADAMTS15,ADAMTS8,AMICA1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,BUD13,C11orf45,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC100131626,LOC100499227,LOC100652768,LOC283174,LOC283177,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIR4697,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NCAPD3,NFRKB,NLRX1,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,THYN1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202,ZNF259 chr1 111624669 111630252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111624669 111630252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116247954 116248037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116294675 116294745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116297361 116448564 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 NOT_FOUND chr1 111629849 111637021 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 116303528 116303622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116342372 116342472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111635007 111664707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DRAM2 chr1 111635007 111664707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRAM2 chr11 116360329 116360479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111637689 111645870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116391823 116391915 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116391823 116391916 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116391823 116391918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111639731 111639792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 116411723 116411977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116431174 116431245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116431960 116431992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116444934 117079607 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APOA1,APOA4,APOA5,APOC3,BUD13,LOC100652768,PAFAH1B2,PCSK7,SIDT2,SIK3,TAGLN,ZNF259 chr11 116484043 116484092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116485121 116607858 Gain Autism - 20841430 NOT_FOUND chr11 116493720 116495107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116505054 116505154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116507164 116515730 Loss Normal 244K array 17666407 NOT_FOUND chr11 116512472 116513795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116513360 116513460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116520270 116546969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116520270 116546969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 11652609 11673376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 116528374 116543625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116535354 116535454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116552695 116579411 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 116554501 116582000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 116554669 116573371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116554669 116573371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116554858 116573370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116558750 116558820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116575250 116580717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116575250 116580717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116575250 116580717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116580997 116608021 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 116580997 116608021 Gain or loss Cancer - 20668451 NOT_FOUND chr11 116580997 116608021 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 116580997 116608021 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 116580997 116608021 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 116580997 116608021 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 116581004 116608021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 116581020 116608021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116581020 116608021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 116608614 116661602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOA5,BUD13,ZNF259 chr11 116608614 116661602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOA5,BUD13,ZNF259 chr11 116610190 116661263 Gain and loss Pancreatic cancer SNP array 17952125 APOA5,BUD13,ZNF259 chr11 116613463 116640413 Amplification or deletion Cancer Array CGH 17440070 BUD13 chr11 116624828 119993056 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-712K arrays 21546498 ABCG4,AMICA1,APOA1,APOA4,APOA5,APOC3,ARCN1,ATP5L,BACE1,BACE1-AS,BCL9L,BUD13,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,LOC100652768,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,PAFAH1B2,PCSK7,PDZD3,PHLDB1,PVRL1,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SIDT2,SIK3,SLC37A4,TAGLN,THY1,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11,ZNF259 chr11 116631510 116631597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BUD13 chr11 116639744 116639879 Gain and loss Pancreatic cancer SNP array 17952125 BUD13 chr11 116643784 132926098 Copy number Lung cancer paired-end sequencing 18438408 ABCG4,ACRV1,ADAMTS15,ADAMTS8,AMICA1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP32,ARHGEF12,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BLID,BSX,C11orf45,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,DSCAML1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,IFT46,IL10RA,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100131626,LOC100499227,LOC100652768,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIRLET7A2,MLL,MPZL2,MPZL3,MSANTD2,NFRKB,NLRX1,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDZD3,PHLDB1,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SIAE,SIDT2,SIK3,SLC37A2,SLC37A4,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TP53AIP1,TRAPPC4,TREH,TRIM29,TTC36,UBASH3B,UBE4A,UPK2,USP2,VPS11,VSIG2,VWA5A,ZBTB44,ZNF202,ZNF259 chr11 116658301 116886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOA1,APOA4,APOA5,APOC3,SIK3,ZNF259 chr11 116661627 116692182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOA4,APOA5 chr11 116661627 116692182 Gain and loss Pancreatic cancer SNP array 17952125 APOA4,APOA5 chr11 116661627 116692182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOA4,APOA5 chr11 116661733 116661798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APOA5 chr11 116663894 117674788 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 APOA1,APOA4,APOC3,BACE1,BACE1-AS,CEP164,DSCAML1,LOC100652768,PAFAH1B2,PCSK7,RNF214,SIDT2,SIK3,TAGLN chr11 116665342 116665442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111667978 111668222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRAM2 chr1 111668988 111682441 Gain and loss Pancreatic cancer SNP array 17952125 CEPT1,DRAM2 chr11 116703781 116789194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOA1,APOC3,SIK3 chr11 116703781 116789194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOA1,APOC3,SIK3 chr11 116711694 116711771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 116714482 116789190 Gain and loss Pancreatic cancer SNP array 17952125 SIK3 chr11 116744454 117087195 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-719K arrays 21546498 LOC100652768,PAFAH1B2,PCSK7,SIDT2,SIK3,TAGLN chr11 116755001 116818500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SIK3 chr11 116803699 117173184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BACE1,BACE1-AS,LOC100652768,PAFAH1B2,PCSK7,RNF214,SIDT2,SIK3,TAGLN chr11 116803699 117173184 Gain and loss Pancreatic cancer SNP array 17952125 BACE1,BACE1-AS,LOC100652768,PAFAH1B2,PCSK7,RNF214,SIDT2,SIK3,TAGLN chr11 116803699 117173184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACE1,BACE1-AS,LOC100652768,PAFAH1B2,PCSK7,RNF214,SIDT2,SIK3,TAGLN chr11 116818501 116820000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SIK3 chr11 116818967 116903121 Gain Stenocardia MACArray Karyo 59K BAC-chips 21860640 SIK3 chr11 116818967 116903121 Gain Vasospasm MACArray Karyo 59K BAC-chips 21860640 SIK3 chr11 116820001 117190500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BACE1,BACE1-AS,LOC100652768,PAFAH1B2,PCSK7,RNF214,SIDT2,SIK3,TAGLN chr11 116829235 116829335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIK3 chr11 116867907 116868007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIK3 chr11 116886001 117619700 Copy number Normal ReadDepth: A Parallel R Package 21305028 BACE1,BACE1-AS,CEP164,DSCAML1,LOC100652768,PAFAH1B2,PCSK7,RNF214,SIDT2,SIK3,TAGLN chr11 116888640 116888740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIK3 chr1 111690771 111697156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEPT1 chr1 111690771 111697156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEPT1 chr11 116916844 116916937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIK3 chr11 1169337 1178939 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 111694555 111703872 Gain and loss Pancreatic cancer SNP array 17952125 CEPT1 chr1 111694621 112653686 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADORA3,ATP5F1,C1orf162,C1orf88,CEPT1,CHI3L2,CHIA,DDX20,DENND2D,FAM212B,KCND3,LOC100129269,LOC100506343,LOC643355,OVGP1,PGCP1,RAP1A,RP11-165H20.1,WDR77 chr11 116948195 118496509 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AMICA1,ARCN1,ATP5L,BACE1,BACE1-AS,CD3D,CD3E,CD3G,CEP164,DSCAML1,FXYD2,FXYD6,FXYD6-FXYD2,IFT46,IL10RA,LOC100131626,LOC100652768,MLL,MPZL2,MPZL3,PAFAH1B2,PCSK7,PHLDB1,RNF214,SCN2B,SCN4B,SIDT2,SIK3,TAGLN,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TTC36,UBE4A chr11 116955013 116990288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIK3 chr1 1 116958895 Loss Wilms tumour 250K Genotyping Arrays 21544195 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CD53,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 116973541 116973641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111697420 111711554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEPT1 chr11 116985071 117018964 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAFAH1B2 chr1 1 117007859 Loss Wilms tumour 250K Genotyping Arrays 21544195 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CD53,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 111701462 111701568 Gain and loss Pancreatic cancer SNP array 17952125 CEPT1 chr1 111701462 111701570 Gain and loss Pancreatic cancer SNP array 17952125 CEPT1 chr11 11703636 11703833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 111703808 111716113 Gain and loss Pancreatic cancer SNP array 17952125 CEPT1 chr1 111705574 111705775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEPT1 chr11 117056315 117089029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100652768,PCSK7,SIDT2,TAGLN chr11 117076061 117126308 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PCSK7,RNF214 chr11 117101792 117101892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCSK7 chr11 117190501 117220000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP164 chr11 117196000 117204017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP164 chr11 117196000 117204017 Gain and loss Pancreatic cancer SNP array 17952125 CEP164 chr11 117196000 117204017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP164 chr11 117196136 117200615 Gain and loss Pancreatic cancer SNP array 17952125 CEP164 chr1 11171985 11178624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTOR chr1 11171985 11178624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTOR chr11 117203762 118563610 Amplification Acute myeloid leukemia - 21251322 AMICA1,ARCN1,ATP5L,CD3D,CD3E,CD3G,CEP164,DSCAML1,FXYD2,FXYD6,FXYD6-FXYD2,IFT46,IL10RA,LOC100131626,MLL,MPZL2,MPZL3,PHLDB1,SCN2B,SCN4B,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TREH,TTC36,UBE4A chr11 117210106 117210206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP164 chr11 117212903 117252577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP164 chr11 117212903 117252577 Gain and loss Pancreatic cancer SNP array 17952125 CEP164 chr11 117212903 117252577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP164 chr11 117220001 117374500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP164,DSCAML1 chr1 111724436 111724718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEPT1 chr1 111727005 111735964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEPT1,DENND2D chr11 117276570 117305306 Gain and loss Pancreatic cancer SNP array 17952125 CEP164,DSCAML1 chr11 117276570 117305325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP164,DSCAML1 chr11 117276570 117305325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP164,DSCAML1 chr1 111728646 111733175 Gain and loss Pancreatic cancer SNP array 17952125 DENND2D chr11 117301943 117302174 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DSCAML1 chr11 117328261 117328350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAML1 chr11 117343482 117343556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAML1 chr11 117362315 117377406 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DSCAML1 chr11 117362319 117377404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117362319 117377404 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr11 117362319 117377404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117374501 117376000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DSCAML1 chr11 117376001 117521000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DSCAML1 chr1 111738014 111818605 Gain and loss Pancreatic cancer SNP array 17952125 CHI3L2,DENND2D chr11 117401294 117405788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117409046 117735474 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DSCAML1,FXYD2,FXYD6,FXYD6-FXYD2 chr11 117409046 117735474 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DSCAML1,FXYD2,FXYD6,FXYD6-FXYD2 chr1 111741592 111764914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DENND2D chr1 111742302 116370304 Copy number gain Normal High-resolution SNP genotyping 21211785 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CASQ2,CHI3L2,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,DENND2D,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,VANGL1,WDR77,WNT2B chr11 117443162 117443462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117443162 117443464 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr11 117443163 117443464 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr1 111744981 111745084 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 111744981 111745087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 117452643 117537452 Gain Autism qPCR 20531469 DSCAML1 chr11 117452937 117495764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117452937 117495764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117452976 117494380 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr11 117492601 119996648 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCG4,AMICA1,ARCN1,ATP5L,BCL9L,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,PDZD3,PHLDB1,PVRL1,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SLC37A4,THY1,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TRIM29,TTC36,UBE4A,UPK2,USP2,VPS11 chr11 11749605 11749755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 117509302 117528747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117509302 117528747 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr11 117509302 117528747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117521001 117557500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DSCAML1 chr11 117538729 117552546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117538729 117552546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117541414 117552524 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr11 117549161 117549261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAML1 chr11 117569652 117601019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117569652 117601019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117569888 117600923 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr11 117580362 117615351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DSCAML1 chr1 111758461 111771922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHI3L2 chr1 111758461 111771922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHI3L2 chr1 1 117600000 Copy number Coronary Disease SNP array 20032323 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 117600000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 117600000 Gain Glioblastoma multiforme conventional CGH 21080181 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 117600000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 117600000 Microdeletion Stargardt's disease MLPA 17277736 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 117602619 117628245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117602619 117628245 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr11 117602619 117628245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117603158 117860329 Duplication Acute myeloid leukemia - 21251322 DSCAML1,FXYD2,FXYD6,FXYD6-FXYD2,IL10RA,TMPRSS13 chr11 117611303 117611388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAML1 chr11 117619701 118505200 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMICA1,ARCN1,ATP5L,CD3D,CD3E,CD3G,DSCAML1,FXYD2,FXYD6,FXYD6-FXYD2,IFT46,IL10RA,LOC100131626,MLL,MPZL2,MPZL3,PHLDB1,SCN2B,SCN4B,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TTC36,UBE4A chr11 117629347 117640219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 117629347 117640219 Gain and loss Pancreatic cancer SNP array 17952125 DSCAML1 chr11 117629347 117640219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAML1 chr11 11763654 11763754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 117644996 117645031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAML1 chr11 117648391 117648480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAML1 chr11 117662914 118992466 Gain Prostate cancer Array CGH 18632612 AMICA1,ARCN1,ATP5L,BCL9L,C2CD2L,CCDC84,CD3D,CD3E,CD3G,CXCR5,DDX6,DPAGT1,DSCAML1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,MIR3656,MIR4492,MLL,MPZL2,MPZL3,PHLDB1,RPL23AP64,RPS25,SCN2B,SCN4B,SLC37A4,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TTC36,UBE4A,UPK2,VPS11 chr11 117676099 117676199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 117680656 117692096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FXYD2,FXYD6-FXYD2 chr11 117680656 117692096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FXYD2,FXYD6-FXYD2 chr11 117680662 117692096 Gain and loss Pancreatic cancer SNP array 17952125 FXYD2,FXYD6-FXYD2 chr11 117706501 117720500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FXYD6,FXYD6-FXYD2 chr11 117708945 117709029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FXYD6,FXYD6-FXYD2 chr11 117714999 117718669 Gain and loss Pancreatic cancer SNP array 17952125 FXYD6,FXYD6-FXYD2 chr11 117715001 117718669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FXYD6,FXYD6-FXYD2 chr11 117715001 117718669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FXYD6,FXYD6-FXYD2 chr11 117720311 117729261 Gain and loss Pancreatic cancer SNP array 17952125 FXYD6,FXYD6-FXYD2 chr11 117720317 117729979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FXYD6,FXYD6-FXYD2 chr11 117720317 117729979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FXYD6,FXYD6-FXYD2 chr11 117723395 117725795 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FXYD6,FXYD6-FXYD2 chr11 117735512 117775132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FXYD6,FXYD6-FXYD2,TMPRSS13 chr11 117735512 117775132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FXYD6,FXYD6-FXYD2,TMPRSS13 chr11 117735512 117775134 Gain and loss Pancreatic cancer SNP array 17952125 FXYD6,FXYD6-FXYD2,TMPRSS13 chr1 111775816 111821951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHI3L2 chr1 111777127 111784755 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CHI3L2 chr11 117777314 117785769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS13 chr11 117777314 117785769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS13 chr11 117777527 117785769 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS13 chr11 117786867 117788117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMPRSS13 chr11 117791937 117821546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMPRSS13 chr11 11779496 11783619 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr11 11779496 11783619 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 11779564 11781199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 117810501 117814000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 117810622 117810708 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 117810622 117810708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 117810622 117810708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 117812414 117901146 Copy number Lung cancer - 20668451 IL10RA,TMPRSS4-AS1 chr11 117812414 117901146 Gain or loss Breast cancer - 20668451 IL10RA,TMPRSS4-AS1 chr11 117812414 117901146 Gain or loss Cancer - 20668451 IL10RA,TMPRSS4-AS1 chr11 117812414 117901146 Gain or loss Lung cancer - 20668451 IL10RA,TMPRSS4-AS1 chr11 117812414 117901146 Gain or loss Ovarian cancer - 20668451 IL10RA,TMPRSS4-AS1 chr11 117812414 117901146 Gain or loss Pancreas cancer - 20668451 IL10RA,TMPRSS4-AS1 chr11 117812414 117901146 Gain or loss Prostate cancer - 20668451 IL10RA,TMPRSS4-AS1 chr11 117812415 117901146 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IL10RA,TMPRSS4-AS1 chr11 117812415 117901146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL10RA,TMPRSS4-AS1 chr11 117812415 117901146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL10RA,TMPRSS4-AS1 chr11 117812438 117900621 Gain and loss Pancreatic cancer SNP array 17952125 IL10RA,TMPRSS4-AS1 chr11 117813393 117814237 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 117813393 117814237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 117813393 117814237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111781659 111782182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHI3L2 chr1 111781837 111781937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHI3L2 chr11 117818491 119647340 Deletion Breast cancer FISH 17142309 ABCG4,AMICA1,ARCN1,ATP5L,BCL9L,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CXCR5,DDX6,DPAGT1,FOXR1,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,PDZD3,PHLDB1,PVRL1,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SLC37A4,THY1,TMEM25,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TTC36,UBE4A,UPK2,USP2,VPS11 chr11 117820656 117856311 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 NOT_FOUND chr11 117836685 117860979 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IL10RA chr11 117836685 117912812 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IL10RA,TMPRSS4-AS1 chr1 111784036 111793353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHI3L2 chr1 111784036 111793353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHI3L2 chr11 117842100 117854505 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 117842100 117860200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IL10RA chr11 117860000 119810000 Loss Acute lymphoblastic leukemia - 21339820 ABCG4,AMICA1,ARCN1,ATP5L,BCL9L,C1QTNF5,C2CD2L,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CXCR5,DDX6,DPAGT1,FOXR1,H2AFX,HINFP,HMBS,HYOU1,IFT46,IL10RA,LOC100131626,LOC100499227,MCAM,MFRP,MIR3656,MIR4492,MLL,MPZL2,MPZL3,NLRX1,PDZD3,PHLDB1,PVRL1,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SLC37A4,THY1,TMEM25,TMPRSS4,TMPRSS4-AS1,TRAPPC4,TREH,TTC36,UBE4A,UPK2,USP2,VPS11 chr11 117864441 117891313 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL10RA,TMPRSS4-AS1 chr11 117870473 117889117 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IL10RA,TMPRSS4-AS1 chr11 117873875 118270810 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 AMICA1,CD3D,CD3E,CD3G,LOC100131626,MPZL2,MPZL3,SCN2B,SCN4B,TMPRSS4,TMPRSS4-AS1,UBE4A chr11 117879739 117943999 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMPRSS4-AS1 chr11 117890354 118375203 Amplification or deletion Cancer Array CGH 17440070 AMICA1,ATP5L,CD3D,CD3E,CD3G,LOC100131626,MLL,MPZL2,MPZL3,SCN2B,SCN4B,TMPRSS4,TMPRSS4-AS1,UBE4A chr11 117897846 117898310 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TMPRSS4-AS1 chr11 117903420 117906841 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMPRSS4-AS1 chr11 117903420 117906841 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS4-AS1 chr11 117903420 117906950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4-AS1 chr11 117903420 117906950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4-AS1 chr11 117906501 117911000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMPRSS4-AS1 chr11 117907127 117922072 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS4-AS1 chr11 117907134 117922072 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMPRSS4-AS1 chr11 117907134 117922072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4-AS1 chr11 117907134 117922072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4-AS1 chr1 111790943 111791053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 117920468 117941960 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TMPRSS4-AS1 chr11 117920471 117941960 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMPRSS4-AS1 chr11 117920471 117941960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4-AS1 chr11 117920471 117941960 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS4-AS1 chr11 117920471 117941960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4-AS1 chr11 117926 119388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 117926 119388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111793266 111806044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111793266 111806044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 117948321 117978852 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMPRSS4,TMPRSS4-AS1 chr11 117948321 117978852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4,TMPRSS4-AS1 chr11 117948321 117978852 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS4,TMPRSS4-AS1 chr11 117948321 117978852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4,TMPRSS4-AS1 chr1 111796882 111967777 Gain and loss Pancreatic cancer SNP array 17952125 C1orf88,CHIA,OVGP1,PGCP1,RP11-165H20.1 chr11 117969913 117970018 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS4 chr11 117969913 117970018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS4 chr11 117982423 118033951 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SCN2B,SCN4B,TMPRSS4 chr11 117982423 118033951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN2B,SCN4B,TMPRSS4 chr11 117982423 118033951 Gain and loss Pancreatic cancer SNP array 17952125 SCN2B,SCN4B,TMPRSS4 chr11 117982423 118033951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN2B,SCN4B,TMPRSS4 chr11 117982501 118074000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMICA1,SCN2B,SCN4B,TMPRSS4 chr11 117983385 117983485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMPRSS4 chr11 117987388 117987447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMPRSS4 chr1 111800000 116100000 Amplification Cutaneous malignant melanoma Affymetrix 100K SNP arrays 17690212 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111800000 116100000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111800000 116100000 Deletion Lung cancer Relied on a multipoint score function 16773561 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111800000 116100000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111800000 116100000 Gain Melanoma GeneChip Human Mapping 100K Set SNP arrays 19671679 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,FAM19A3,FAM212B,HIPK1,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,WDR77,WNT2B chr1 111800000 117800000 Loss Prostate cancer Array CGH 16573809 ADORA3,AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,BCAS2,BCL2L15,C1orf162,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD58,CHIA,CSDE1,CTTNBP2NL,DCLRE1B,DDX20,DENND2C,FAM19A3,FAM212B,HIPK1,IGSF3,KCND3,LOC100129269,LOC100506343,LOC643355,LOC643441,LRIG2,MAB21L3,MAGI3,MIR320B1,MIR4256,MIR942,MOV10,NGF,NHLH2,NRAS,OLFML3,OVGP1,PGCP1,PHTF1,PPM1J,PTGFRN,PTPN22,RAP1A,RHOC,RP11-165H20.1,RSBN1,SIKE1,SLC16A1,SLC22A15,ST7L,SYCP1,SYT6,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,VANGL1,VTCN1,WDR77,WNT2B chr11 11801644 15922374 Loss Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 ARNTL,BTBD10,CALCA,CALCB,COPB1,CYP2R1,DKK3,FAR1,INSC,LOC100506305,MICAL2,MICALCL,PARVA,PDE3B,PSMA1,PTH,RASSF10,RRAS2,SPON1,TEAD1,USP47 chr11 118018164 118018242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN4B chr1 111802589 111802689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 118034209 118055591 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SCN2B chr11 118034209 118055591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN2B chr11 118034209 118055591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN2B chr11 118034209 118055592 Gain and loss Pancreatic cancer SNP array 17952125 SCN2B chr11 11807608 11807766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 118078261 118078363 Gain and loss Pancreatic cancer SNP array 17952125 AMICA1 chr11 118078261 118078366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMICA1 chr11 118080390 118510298 Gain small cell lung cancer Real-time Quantitative PCR 17426248 AMICA1,ARCN1,ATP5L,CD3D,CD3E,CD3G,IFT46,LOC100131626,MLL,MPZL2,MPZL3,PHLDB1,TMEM25,TTC36,UBE4A chr11 118096636 118096736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 118099161 118099616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118123682 118167182 Gain or loss Breast cancer - 20668451 MPZL2 chr11 118123682 118167182 Gain or loss Cancer - 20668451 MPZL2 chr11 118123682 118167182 Gain or loss Lung cancer - 20668451 MPZL2 chr11 118123682 118167182 Gain or loss Ovarian cancer - 20668451 MPZL2 chr11 118123682 118167182 Gain or loss Pancreas cancer - 20668451 MPZL2 chr11 118123682 118167182 Gain or loss Prostate cancer - 20668451 MPZL2 chr11 118125623 118167082 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MPZL2 chr11 118125623 118167082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPZL2 chr11 118125623 118167082 Gain and loss Pancreatic cancer SNP array 17952125 MPZL2 chr11 118125623 118167082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPZL2 chr11 118141745 118141845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 118158247 118199508 Amplification or deletion Cancer Array CGH 17440070 CD3E chr1 111818014 111822654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 111818014 111822654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 11819545 11937448 Gain or loss Breast cancer - 20668451 USP47 chr11 11819545 11937448 Gain or loss Cancer - 20668451 USP47 chr11 11819545 11937448 Gain or loss Lung cancer - 20668451 USP47 chr11 11819545 11937448 Gain or loss Ovarian cancer - 20668451 USP47 chr11 11819545 11937448 Gain or loss Pancreas cancer - 20668451 USP47 chr11 11819545 11937448 Gain or loss Prostate cancer - 20668451 USP47 chr11 11819546 11934691 Gain and loss Pancreatic cancer SNP array 17952125 USP47 chr11 11819546 11937448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP47 chr11 11819546 11937448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP47 chr11 118209713 118210484 Gain and loss Pancreatic cancer SNP array 17952125 CD3D chr11 118209718 118210487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD3D chr11 118211929 118212028 Gain and loss Pancreatic cancer SNP array 17952125 CD3D chr11 118211929 118212030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD3D chr11 118211930 118212026 Gain and loss Pancreatic cancer SNP array 17952125 CD3D chr11 118235555 118235655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE4A chr1 111824223 111936532 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C1orf88,CHIA,PGCP1,RP11-165H20.1 chr11 118246001 118273000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP5L,LOC100131626,UBE4A chr11 118259750 118272181 Gain or loss Breast cancer - 20668451 ATP5L,LOC100131626,UBE4A chr11 118259750 118272181 Gain or loss Cancer - 20668451 ATP5L,LOC100131626,UBE4A chr11 118259750 118272181 Gain or loss Lung cancer - 20668451 ATP5L,LOC100131626,UBE4A chr11 118259750 118272181 Gain or loss Ovarian cancer - 20668451 ATP5L,LOC100131626,UBE4A chr11 118259750 118272181 Gain or loss Pancreas cancer - 20668451 ATP5L,LOC100131626,UBE4A chr11 118259750 118272181 Gain or loss Prostate cancer - 20668451 ATP5L,LOC100131626,UBE4A chr11 118259771 118272180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP5L,LOC100131626,UBE4A chr11 118259771 118272180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5L,LOC100131626,UBE4A chr11 118259771 118272180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5L,LOC100131626,UBE4A chr11 118259777 118272180 Gain and loss Pancreatic cancer SNP array 17952125 ATP5L,LOC100131626,UBE4A chr11 118272059 118286823 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP5L,LOC100131626 chr11 118272059 118286823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5L,LOC100131626 chr11 118272059 118286823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5L,LOC100131626 chr11 118272263 118286823 Gain and loss Pancreatic cancer SNP array 17952125 ATP5L,LOC100131626 chr11 118273001 118306500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP5L,LOC100131626 chr1 111827495 111908120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf88,CHIA,RP11-165H20.1 chr1 111827495 111908120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf88,CHIA,RP11-165H20.1 chr11 118306501 118572500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARCN1,IFT46,MLL,PHLDB1,TMEM25,TREH,TTC36 chr11 118307130 118307394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118307131 118307396 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118307131 118307396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118321536 118342357 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 MLL chr11 11832299 11833259 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 118328774 118329187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLL chr11 118332236 118334478 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLL chr11 118332236 118334478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118332236 118334478 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118332236 118334478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118334239 118354717 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MLL chr1 111834462 111834568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHIA chr11 118346418 118346511 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118346418 118346511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118346418 118346515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118347627 118357211 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLL chr11 118347627 118357211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118347627 118357211 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118347627 118357211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr1 11183664 11190303 Gain and loss Pancreatic cancer SNP array 17952125 MTOR chr11 118370254 118370479 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118370254 118370479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118370254 118370553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118370480 118370572 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118370480 118370573 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118370594 118370680 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118370594 118370680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118374062 118391665 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLL chr11 118374062 118391665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118374062 118391665 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118374062 118391665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118378881 118379120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118378881 118379120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 11838821 11883690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USP47 chr11 118391635 118394267 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLL chr11 118391635 118394267 Gain and loss Pancreatic cancer SNP array 17952125 MLL chr11 118391635 118394267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL chr11 118394352 118399585 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLL,TTC36 chr11 118394451 118399592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLL,TTC36 chr11 118394451 118399592 Gain and loss Pancreatic cancer SNP array 17952125 MLL,TTC36 chr11 118394451 118399592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL,TTC36 chr11 118396194 118396255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLL chr11 118400276 118406781 Gain and loss Pancreatic cancer SNP array 17952125 TMEM25,TTC36 chr11 118400276 118406800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMEM25,TTC36 chr11 118400276 118406800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM25,TTC36 chr11 118400276 118406800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM25,TTC36 chr11 118405687 118405765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM25 chr11 118409130 118409439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM25 chr11 118420105 118433126 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 IFT46 chr11 118420110 118433122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IFT46 chr11 118420110 118433122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT46 chr11 118420110 118433122 Gain and loss Pancreatic cancer SNP array 17952125 IFT46 chr11 118420110 118433122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT46 chr11 118425644 118426368 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IFT46 chr11 118443703 118457896 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARCN1 chr11 118443703 118457896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARCN1 chr11 118443703 118457896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARCN1 chr11 118443745 118457891 Gain and loss Pancreatic cancer SNP array 17952125 ARCN1 chr11 118460797 118469469 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARCN1 chr11 118460797 118469469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARCN1 chr11 118460797 118469469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARCN1 chr11 118460803 118469467 Gain and loss Pancreatic cancer SNP array 17952125 ARCN1 chr11 118469799 118471369 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARCN1 chr11 118469799 118471369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARCN1 chr11 118469799 118471369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARCN1 chr11 118470883 118471314 Gain and loss Pancreatic cancer SNP array 17952125 ARCN1 chr11 118472424 118477995 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARCN1,PHLDB1 chr11 118472424 118484251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARCN1,PHLDB1 chr11 118472424 118484251 Gain and loss Pancreatic cancer SNP array 17952125 ARCN1,PHLDB1 chr11 118472424 118484251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARCN1,PHLDB1 chr11 118483303 118493036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PHLDB1 chr11 118483303 118493036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHLDB1 chr11 118483303 118493036 Gain and loss Pancreatic cancer SNP array 17952125 PHLDB1 chr11 118483303 118493036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHLDB1 chr11 118490472 118519137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PHLDB1 chr11 118497497 118510975 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PHLDB1 chr11 118497498 118510974 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PHLDB1 chr11 118497498 118510974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHLDB1 chr11 118497498 118510974 Gain and loss Pancreatic cancer SNP array 17952125 PHLDB1 chr11 118497498 118510974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHLDB1 chr11 118500617 118500687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHLDB1 chr11 118524960 118538582 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PHLDB1,TREH chr11 118524960 118538582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHLDB1,TREH chr11 118524960 118538582 Gain and loss Pancreatic cancer SNP array 17952125 PHLDB1,TREH chr11 118524960 118538582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHLDB1,TREH chr11 118525508 118538582 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PHLDB1,TREH chr11 118544293 118559930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TREH chr11 118544293 118559935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TREH chr11 118544293 118559935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TREH chr11 118544648 118559933 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TREH chr11 118544648 118559933 Gain and loss Pancreatic cancer SNP array 17952125 TREH chr11 118556437 118566142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118561405 118566106 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 118561405 118566106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118561405 118566106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118566175 118572689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 118566175 118572689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118566175 118572689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118582199 118675922 Gain and loss Pancreatic cancer SNP array 17952125 DDX6 chr11 118582199 118684069 Gain or loss Breast cancer - 20668451 DDX6 chr11 118582199 118684069 Gain or loss Cancer - 20668451 DDX6 chr11 118582199 118684069 Gain or loss Lung cancer - 20668451 DDX6 chr11 118582199 118684069 Gain or loss Ovarian cancer - 20668451 DDX6 chr11 118582199 118684069 Gain or loss Pancreas cancer - 20668451 DDX6 chr11 118582199 118684069 Gain or loss Prostate cancer - 20668451 DDX6 chr11 118582200 118684066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DDX6 chr11 118582200 118684066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX6 chr11 118582200 118684066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX6 chr11 118585028 127052111 Deletion Acute myeloid leukemia - 21251322 ABCG4,ACRV1,ARHGEF12,BCL9L,BLID,BSX,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC15,CCDC153,CCDC84,CDON,CHEK1,CLMP,CRTAM,CXCR5,DCPS,DDX25,DDX6,DPAGT1,EI24,ESAM,FAM118B,FEZ1,FLJ39051,FOXR1,FOXRED1,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LOC100499227,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4492,MIR4493,MIRLET7A2,MSANTD2,NLRX1,NRGN,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PDZD3,PKNOX2,POU2F3,PUS3,PVRL1,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SLC37A4,SORL1,SPA17,SRPR,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TRAPPC4,TRIM29,UBASH3B,UPK2,USP2,VPS11,VSIG2,VWA5A,ZNF202 chr11 118614640 118708364 Amplification or deletion Cancer Array CGH 17440070 DDX6 chr11 118642293 118642382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX6 chr11 118658027 118658161 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DDX6 chr11 118665482 118665597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118678084 118684068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118682001 118691000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 118684196 118693050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118684444 118693050 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 118684444 118693050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118684444 118693050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118691001 118692500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 118692501 118698000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 118697944 118698139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118697944 118698139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118704619 118704904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118704619 118704904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118705039 118705229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118705039 118705229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118710001 118711000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 118710447 118713231 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 118710447 118713231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118710447 118713231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118710447 118713233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118711001 118723000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 118714862 118722579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 118714862 118722579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118714862 118722579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118714862 118722593 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118723001 118960000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL9L,CCDC84,CXCR5,FOXR1,HMBS,HYOU1,MIR3656,MIR4492,RPL23AP64,RPS25,SLC37A4,TRAPPC4,UPK2,VPS11 chr11 118731134 118757646 Gain or loss Breast cancer - 20668451 CXCR5 chr11 118731134 118757646 Gain or loss Cancer - 20668451 CXCR5 chr11 118731134 118757646 Gain or loss Lung cancer - 20668451 CXCR5 chr11 118731134 118757646 Gain or loss Ovarian cancer - 20668451 CXCR5 chr11 118731134 118757646 Gain or loss Pancreas cancer - 20668451 CXCR5 chr11 118731134 118757646 Gain or loss Prostate cancer - 20668451 CXCR5 chr11 118731136 118757631 Gain and loss Pancreatic cancer SNP array 17952125 CXCR5 chr11 118732163 118757575 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CXCR5 chr11 118732163 118757575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CXCR5 chr11 118732163 118757575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CXCR5 chr11 118732901 118884700 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL9L,CCDC84,CXCR5,FOXR1,MIR4492,RPL23AP64,UPK2 chr11 118745287 118748038 Gain Normal 244K array 17666407 NOT_FOUND chr1 111876218 111876328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 118768470 118768570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL9L chr11 118793865 118799456 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 118794097 118800048 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 118794097 118800048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 118794097 118800048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 118794097 118800048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 11882200 11884069 Copy number Autism exome sequencing 22495311 USP47 chr11 118829479 118829564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 111885649 111885749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 118863468 118908077 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC84,MIR3656,RPL23AP64,RPS25,SLC37A4,TRAPPC4 chr1 111886363 112057624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADORA3,ATP5F1,C1orf162,C1orf88,OVGP1,PGCP1,WDR77 chr1 111886363 112057624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADORA3,ATP5F1,C1orf162,C1orf88,OVGP1,PGCP1,WDR77 chr1 111886577 112057624 Gain or loss Breast cancer - 20668451 ADORA3,ATP5F1,C1orf162,C1orf88,OVGP1,PGCP1,WDR77 chr1 111886577 112057624 Gain or loss Cancer - 20668451 ADORA3,ATP5F1,C1orf162,C1orf88,OVGP1,PGCP1,WDR77 chr1 111886577 112057624 Gain or loss Lung cancer - 20668451 ADORA3,ATP5F1,C1orf162,C1orf88,OVGP1,PGCP1,WDR77 chr1 111886577 112057624 Gain or loss Ovarian cancer - 20668451 ADORA3,ATP5F1,C1orf162,C1orf88,OVGP1,PGCP1,WDR77 chr1 111886577 112057624 Gain or loss Pancreas cancer - 20668451 ADORA3,ATP5F1,C1orf162,C1orf88,OVGP1,PGCP1,WDR77 chr1 111886577 112057624 Gain or loss Prostate cancer - 20668451 ADORA3,ATP5F1,C1orf162,C1orf88,OVGP1,PGCP1,WDR77 chr11 118884701 129333600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCG4,ACRV1,ARHGAP32,ARHGEF12,BARX2,BLID,BSX,C11orf45,C11orf63,C1QTNF5,C2CD2L,CBL,CCDC15,CCDC153,CCDC84,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,DPAGT1,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,GRIK4,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HYLS1,HYOU1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LOC100499227,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR3656,MIR4493,MIRLET7A2,MSANTD2,NLRX1,NRGN,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PDZD3,PKNOX2,POU2F3,PUS3,PVRL1,RNF26,ROBO3,ROBO4,RPS25,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SLC37A4,SORL1,SPA17,SRPR,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TP53AIP1,TRAPPC4,TRIM29,UBASH3B,USP2,VPS11,VSIG2,VWA5A,ZNF202 chr1 111889079 111889282 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C1orf88 chr11 118917108 118917158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYOU1 chr11 11895057 11895142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP47 chr11 118960001 118961500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HMBS chr11 118978501 118981500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2CD2L chr11 118978782 118980103 Gain and loss Pancreatic cancer SNP array 17952125 C2CD2L chr11 118998501 119185500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCG4,CBL,CCDC153,HINFP,MCAM,NLRX1,PDZD3 chr11 119000 169298 Duplication Non-syndromic sensorineural hearing loss References 19212409 LOC100133161 chr11 119007298 119015537 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 119014018 119104645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ABCG4,CBL,CCDC153,NLRX1,PDZD3 chr11 119014018 119104645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCG4,CBL,CCDC153,NLRX1,PDZD3 chr11 119014018 119104645 Gain and loss Pancreatic cancer SNP array 17952125 ABCG4,CBL,CCDC153,NLRX1,PDZD3 chr11 119014018 119104645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCG4,CBL,CCDC153,NLRX1,PDZD3 chr11 119032231 119032330 Gain and loss Pancreatic cancer SNP array 17952125 ABCG4 chr11 119032231 119032332 Gain and loss Pancreatic cancer SNP array 17952125 ABCG4 chr11 119032231 119032336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCG4 chr1 111903572 111904263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 119038810 119039257 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 119042880 120039872 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C1QTNF5,CBL,CCDC153,LOC100499227,MCAM,MFRP,NLRX1,PDZD3,PVRL1,RNF26,THY1,TRIM29,USP2 chr11 119044645 133316524 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,ARHGEF12,BARX2,BLID,BSX,C11orf45,C11orf63,C1QTNF5,CBL,CCDC15,CCDC153,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100499227,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NLRX1,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PDZD3,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF26,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM45B,TP53AIP1,TRIM29,UBASH3B,USP2,VSIG2,VWA5A,ZBTB44,ZNF202 chr1 111905095 111905200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 111905095 111905201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 119158031 133686875 Loss Prostate cancer Array CGH 18632612 ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,ARHGEF12,BARX2,BLID,BSX,C11orf45,C11orf63,C1QTNF5,CBL,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100499227,LOC341056,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,RNF26,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,THY1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM45B,TP53AIP1,TRIM29,UBASH3B,USP2,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 119185501 119483500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1QTNF5,LOC100499227,MCAM,MFRP,RNF26,THY1,USP2 chr11 119207213 119207313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF26 chr11 119224724 119225011 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 119228867 119228947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP2 chr11 119230000 134930000 Loss Breast cancer aCGH 21509527 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,ARHGEF12,B3GAT1,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC100499227,LOC283174,LOC283177,LOC341056,LOC649133,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIR4697,MIRLET7A2,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,POU2F3,PRDM10,PUS3,PVRL1,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,THY1,THYN1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM45B,TP53AIP1,TRIM29,UBASH3B,USP2,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 119253374 119278807 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100499227 chr11 119300343 119817956 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100499227,PVRL1 chr11 1193613 11904645 Copy number Autism exome sequencing 22495311 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL2,ASCL3,BRSK2,C11orf16,C11orf21,C11orf40,C11orf42,CARS,CCKBR,CD81,CDKN1C,CHRNA10,CNGA4,CSNK2A1P,CTR9,CTSD,CYB5R2,DCHS1,DENND5A,DNHD1,DUSP8,EIF3F,EIF4G2,FAM160A2,FAM99A,FAM99B,FXC1,GALNTL4,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,IFITM10,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IPO7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LMO1,LOC100506082,LOC255512,LOC283299,LOC338651,LOC440028,LOC644656,LOC650368,LOC729013,LSP1,LYVE1,MIR4298,MIR4299,MIR4485,MIR4686,MIR4687,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC5B,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,SNORD97,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TH,TMEM41B,TMEM9B,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSPAN32,TSSC4,TUB,UBQLN3,UBQLNL,USP47,WEE1,ZBED5,ZNF143,ZNF195,ZNF214,ZNF215 chr11 119380466 119718854 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 PVRL1 chr11 11938958 11941523 Gain and loss Pancreatic cancer SNP array 17952125 USP47 chr11 11938977 11939310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP47 chr11 11938977 11939310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP47 chr11 119390761 119390846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 11940561 11940661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP47 chr11 11941118 11987493 Gain or loss Breast cancer - 20668451 DKK3,USP47 chr11 11941118 11987493 Gain or loss Cancer - 20668451 DKK3,USP47 chr11 11941118 11987493 Gain or loss Lung cancer - 20668451 DKK3,USP47 chr11 11941118 11987493 Gain or loss Ovarian cancer - 20668451 DKK3,USP47 chr11 11941118 11987493 Gain or loss Pancreas cancer - 20668451 DKK3,USP47 chr11 11941118 11987493 Gain or loss Prostate cancer - 20668451 DKK3,USP47 chr11 11941123 11987493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DKK3,USP47 chr11 11941123 11987493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DKK3,USP47 chr11 11941229 11987493 Gain and loss Pancreatic cancer SNP array 17952125 DKK3,USP47 chr11 11942001 11962000 Copy number Normal ReadDepth: A Parallel R Package 21305028 USP47 chr11 11942068 11942437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP47 chr11 119437498 119437866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 119455958 119471236 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 111947930 111948025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 119483501 119500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 119487205 119514073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PVRL1 chr11 119487205 119514073 Gain and loss Pancreatic cancer SNP array 17952125 PVRL1 chr11 119487205 119514073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PVRL1 chr11 119497229 119497309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 119497914 119498009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 119500501 119619500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PVRL1 chr11 119544895 119547597 Gain and loss Pancreatic cancer SNP array 17952125 PVRL1 chr11 119544895 119547597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PVRL1 chr11 119578625 119579943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PVRL1 chr11 119579189 119613359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PVRL1 chr11 119586957 119605859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PVRL1 chr11 119586957 119605859 Gain and loss Pancreatic cancer SNP array 17952125 PVRL1 chr11 119586957 119605859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PVRL1 chr11 119594652 119594749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PVRL1 chr11 119616161 119695863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 119616161 119695863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 119616256 119695863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 11962001 12229500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DKK3,MICAL2,USP47 chr11 119630000 120260000 Deletion Ductal carcinoma SNP array 22052326 ARHGEF12,LOC649133,OAF,POU2F3,TMEM136,TRIM29 chr11 1196501 1218000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 119699611 119699902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 119701226 119706556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 119701226 119706556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 119701226 119706556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 119711501 119713500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 119712825 119865855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 119713155 119865855 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 119713155 119865855 Gain or loss Cancer - 20668451 NOT_FOUND chr11 119713155 119865855 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 119713155 119865855 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 119713155 119865855 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 119713155 119865855 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 119713156 119865855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 119713156 119865855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 119714432 119714472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 119745597 119898297 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 119752693 119752771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 119771717 119804617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 111980412 112002355 Gain and loss Pancreatic cancer SNP array 17952125 ATP5F1,WDR77 chr11 119834963 119869154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 119838922 119839067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 11984649 11984749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKK3 chr11 119847705 119847805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 119854484 134452384 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,ARHGEF12,B3GAT1,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,LOC341056,LOC649133,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIR4697,MIRLET7A2,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,POU2F3,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,THYN1,TIRAP,TMEM136,TMEM218,TMEM225,TMEM45B,TP53AIP1,TRIM29,UBASH3B,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 119866486 119867953 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 119866524 119866616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 119885001 119904000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 119887721 119890942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 119892851 119893576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 111992434 111993692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5F1 chr1 111994576 111994678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5F1 chr11 119994778 119994833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM29 chr11 120036181 120362342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF12,LOC649133,OAF,POU2F3,TMEM136 chr11 120036181 120362342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF12,LOC649133,OAF,POU2F3,TMEM136 chr11 120036238 120362179 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF12,LOC649133,OAF,POU2F3,TMEM136 chr11 120050177 120050277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 120052388 120052483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 120053122 120687058 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF12,GRIK4,LOC649133,OAF,POU2F3,TMEM136 chr11 120053122 122127741 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF12,BLID,GRIK4,LOC649133,MIR100,MIR100HG,MIR125B1,MIRLET7A2,OAF,POU2F3,SC5DL,SORL1,TBCEL,TECTA,TMEM136 chr11 1200872 1239982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1200872 1239982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1200930 1239414 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 120097556 120097656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OAF chr11 120102403 121261405 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-713K arrays 21546498 ARHGEF12,GRIK4,LOC649133,POU2F3,SC5DL,TBCEL,TECTA,TMEM136 chr1 112010296 112022241 Gain and loss Pancreatic cancer SNP array 17952125 C1orf162 chr11 120168346 133686875 Loss Barrett's syndrome BAC array 19417022 ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,ARHGEF12,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC341056,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NRGN,NTM,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,POU2F3,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,TIRAP,TMEM136,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 120183810 120297627 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF12,POU2F3,TMEM136 chr1 112027226 112027296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADORA3 chr1 112030473 112243819 Gain and loss Pancreatic cancer SNP array 17952125 ADORA3,LOC100129269,RAP1A chr11 120320602 120320693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF12 chr1 112032159 112032259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADORA3 chr11 12032350 12032450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 120328001 120336500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF12 chr11 120341562 120375049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGEF12 chr11 120385808 120385908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 120395106 120395206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 120400035 120465525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 120400035 120465525 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 120400035 120465525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 120405311 120405411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 120410103 120447015 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 112043784 112068759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADORA3 chr1 112043922 112044017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADORA3 chr11 12044949 12080085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 120468713 120513377 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 120470114 120470214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 120477092 120567412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK4 chr11 120477092 120567412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK4 chr11 120478585 120566725 Gain and loss Pancreatic cancer SNP array 17952125 GRIK4 chr11 120493810 122186945 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BLID,GRIK4,MIR100,MIR100HG,MIR125B1,MIRLET7A2,SC5DL,SORL1,TBCEL,TECTA chr11 120533125 120533225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK4 chr11 120555963 120590826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRIK4 chr11 120591298 120591398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK4 chr11 120605983 120606083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK4 chr11 120642837 120763395 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 GRIK4 chr11 120668598 120689329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK4 chr11 120668598 120689329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK4 chr11 120668708 120684557 Gain and loss Pancreatic cancer SNP array 17952125 GRIK4 chr1 112069893 112083545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADORA3 chr1 112069893 112083545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADORA3 chr11 120700000 123500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BLID,BSX,C11orf63,CLMP,CRTAM,GRAMD1B,GRIK4,HSPA8,LOC341056,MIR100,MIR100HG,MIR125B1,MIR4493,MIRLET7A2,SC5DL,SCN3B,SORL1,TBCEL,TECTA,UBASH3B chr11 120700000 123500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BLID,BSX,C11orf63,CLMP,CRTAM,GRAMD1B,GRIK4,HSPA8,LOC341056,MIR100,MIR100HG,MIR125B1,MIR4493,MIRLET7A2,SC5DL,SCN3B,SORL1,TBCEL,TECTA,UBASH3B chr11 120700000 130300000 Gain Multiple myeloma CGH, FISH 16461302 ACRV1,ADAMTS8,APLP2,ARHGAP32,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC341056,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 120700000 130300000 Loss Cancer array-based techniques 21183584 ACRV1,ADAMTS8,APLP2,ARHGAP32,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC341056,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 120700000 130300000 Loss Non-small cell lung cancer - 21385341 ACRV1,ADAMTS8,APLP2,ARHGAP32,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC341056,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 120700000 134452384 Deletion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,GRAMD1B,GRIK4,HEPACAM,HEPN1,HSPA8,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,LOC341056,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIR4697,MIRLET7A2,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SC5DL,SCN3B,SIAE,SLC37A2,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBCEL,TBRG1,TECTA,THYN1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 120737769 120738782 Gain and loss Pancreatic cancer SNP array 17952125 GRIK4 chr11 120737769 120738782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK4 chr11 120780398 120780498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK4 chr11 120822848 120822934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK4 chr11 120828130 121005597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK4,TBCEL,TECTA chr11 120828130 121005597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK4,TBCEL,TECTA chr11 120828169 121005597 Gain and loss Pancreatic cancer SNP array 17952125 GRIK4,TBCEL,TECTA chr11 120849099 120849189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK4 chr11 120882680 120887058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 12088713 12241907 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MICAL2 chr11 12088714 12241903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICAL2 chr11 12088714 12241903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL2 chr11 12088714 12241905 Gain and loss Pancreatic cancer SNP array 17952125 MICAL2 chr1 11208898 11209004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTOR,MTOR-AS1 chr11 120953172 120953272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBCEL chr11 120957150 122219992 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BLID,MIR100,MIR100HG,MIR125B1,MIRLET7A2,SC5DL,SORL1,TBCEL,TECTA chr1 1 120967708 Loss Wilms tumour 250K Genotyping Arrays 21544195 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 120979334 120979389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TECTA chr1 112099777 112111722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADORA3 chr1 112099777 112111722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADORA3 chr11 121024669 121024769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TECTA chr11 12109121 12109444 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 112114807 112333300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX20,FAM212B,KCND3,LOC100129269,LOC100506343,RAP1A chr1 112114807 112333300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX20,FAM212B,KCND3,LOC100129269,LOC100506343,RAP1A chr11 121181450 121181544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SC5DL chr11 121200000 123900000 Copy number Effusion lymphoma Real-time QPCR 18079361 BLID,BSX,C11orf63,CLMP,CRTAM,GRAMD1B,HSPA8,LOC341056,MIR100,MIR100HG,MIR125B1,MIR4493,MIRLET7A2,OR10G4,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8D4,SCN3B,SORL1,TMEM225,UBASH3B,ZNF202 chr11 121200000 130800000 Deletion Chronic lymphocytic leukemia 10k and 50k Affymetrix SNP arrays 17053054 ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC341056,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 121200000 130800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC341056,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 121200926 121538212 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-661K arrays 21546498 SORL1 chr1 112123552 112123692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112123614 112123667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 12124274 12124374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 121254229 121254313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 121305679 124772239 LOH Normal High-resolution SNP genotyping 21211785 BLID,BSX,C11orf63,CLMP,CRTAM,ESAM,GRAMD1B,HSPA8,LOC341056,MIR100,MIR100HG,MIR125B1,MIR4493,MIRLET7A2,MSANTD2,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,ROBO3,ROBO4,SCN3B,SIAE,SORL1,SPA17,TBRG1,TMEM225,UBASH3B,VSIG2,VWA5A,ZNF202 chr11 121319890 121319990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 121336091 123590881 LOH Normal High-resolution SNP genotyping 21211785 BLID,BSX,C11orf63,CLMP,CRTAM,GRAMD1B,HSPA8,LOC341056,MIR100,MIR100HG,MIR125B1,MIR4493,MIRLET7A2,SCN3B,SORL1,UBASH3B chr11 121336091 124772239 LOH Normal High-resolution SNP genotyping 21211785 BLID,BSX,C11orf63,CLMP,CRTAM,ESAM,GRAMD1B,HSPA8,LOC341056,MIR100,MIR100HG,MIR125B1,MIR4493,MIRLET7A2,MSANTD2,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,ROBO3,ROBO4,SCN3B,SIAE,SORL1,SPA17,TBRG1,TMEM225,UBASH3B,VSIG2,VWA5A,ZNF202 chr11 121336091 124781017 LOH Normal High-resolution SNP genotyping 21211785 BLID,BSX,C11orf63,CLMP,CRTAM,ESAM,GRAMD1B,HSPA8,LOC341056,MIR100,MIR100HG,MIR125B1,MIR4493,MIRLET7A2,MSANTD2,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,ROBO3,ROBO4,SCN3B,SIAE,SORL1,SPA17,TBRG1,TMEM225,UBASH3B,VSIG2,VWA5A,ZNF202 chr11 121380309 121380366 Gain and loss Pancreatic cancer SNP array 17952125 SORL1 chr11 121380309 121380366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORL1 chr11 121383062 121383162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORL1 chr11 121392786 121393004 Amplification Medulloblastoma Illumina SNP arrays 21163964 SORL1 chr11 121394311 124743609 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-714K arrays 21546498 BLID,BSX,C11orf63,CLMP,CRTAM,ESAM,GRAMD1B,HSPA8,LOC341056,MIR100,MIR100HG,MIR125B1,MIR4493,MIRLET7A2,MSANTD2,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,ROBO3,SCN3B,SIAE,SORL1,SPA17,TBRG1,TMEM225,UBASH3B,VSIG2,VWA5A,ZNF202 chr11 12144748 12144848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICAL2 chr11 121475675 121475762 Gain and loss Pancreatic cancer SNP array 17952125 SORL1 chr11 121475675 121475762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORL1 chr11 121491271 121492133 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SORL1 chr11 121491514 121491840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORL1 chr11 121491514 121491840 Gain and loss Pancreatic cancer SNP array 17952125 SORL1 chr11 121491514 121491840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORL1 chr11 121522428 121522523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 121522439 121522511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 121528147 121528226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 121528147 121528226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112154612 112154650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112154901 112382600 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX20,FAM212B,KCND3,LOC100506343,RAP1A chr1 11215607 11215756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTOR chr11 1 21600000 Gain Cancer array-based techniques 21183584 ABCC8,ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,CALCA,CALCB,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COPB1,CSNK2A1P,CSRP3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCHS1,DEAF1,DENND5A,DKK3,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EIF3F,EIF4G2,EPS8L2,FAM160A2,FAM99A,FAM99B,FAR1,FXC1,GALNTL4,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,INS,INS-IGF2,INSC,IPO7,IRF7,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LMO1,LOC100126784,LOC100133161,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LYVE1,MICAL2,MICALCL,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PARVA,PDDC1,PDE3B,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,RASSF10,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 21600000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ABCC8,ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,CALCA,CALCB,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COPB1,CSNK2A1P,CSRP3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCHS1,DEAF1,DENND5A,DKK3,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EIF3F,EIF4G2,EPS8L2,FAM160A2,FAM99A,FAM99B,FAR1,FXC1,GALNTL4,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,INS,INS-IGF2,INSC,IPO7,IRF7,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LMO1,LOC100126784,LOC100133161,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LYVE1,MICAL2,MICALCL,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PARVA,PDDC1,PDE3B,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,RASSF10,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 21600000 Loss Cancer array-based techniques 21183584 ABCC8,ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,CALCA,CALCB,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COPB1,CSNK2A1P,CSRP3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCHS1,DEAF1,DENND5A,DKK3,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EIF3F,EIF4G2,EPS8L2,FAM160A2,FAM99A,FAM99B,FAR1,FXC1,GALNTL4,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,INS,INS-IGF2,INSC,IPO7,IRF7,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LMO1,LOC100126784,LOC100133161,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LYVE1,MICAL2,MICALCL,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PARVA,PDDC1,PDE3B,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,RASSF10,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 121649175 121649275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 121684504 121684604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112169367 112371631 Insert Cancer ultra-high resolution array CGH 21272361 DDX20,FAM212B,KCND3,LOC100506343,RAP1A chr11 1 21700000 Amplification Hepatocellular carcinoma Array CGH 16750200 ABCC8,ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,CALCA,CALCB,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COPB1,CSNK2A1P,CSRP3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCHS1,DEAF1,DENND5A,DKK3,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EIF3F,EIF4G2,EPS8L2,FAM160A2,FAM99A,FAM99B,FAR1,FXC1,GALNTL4,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,INS,INS-IGF2,INSC,IPO7,IRF7,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LMO1,LOC100126784,LOC100133161,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LYVE1,MICAL2,MICALCL,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PARVA,PDDC1,PDE3B,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,RASSF10,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 21700000 Copy number Wilms tumour Array CGH 19047088 ABCC8,ADM,AKIP1,AMPD3,ANO9,AP2A2,APBB1,ARFIP2,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,CALCA,CALCB,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COPB1,CSNK2A1P,CSRP3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCHS1,DEAF1,DENND5A,DKK3,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EIF3F,EIF4G2,EPS8L2,FAM160A2,FAM99A,FAM99B,FAR1,FXC1,GALNTL4,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,INS,INS-IGF2,INSC,IPO7,IRF7,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LMO1,LOC100126784,LOC100133161,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LYVE1,MICAL2,MICALCL,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PARVA,PDDC1,PDE3B,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,RASSF10,RASSF7,RBMXL2,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SWAP70,SYT8,SYT9,TAF10,TALDO1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1218001 1229500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 121813520 134447248 Deletion Intellectual disability Array CGH 22102821 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,BLID,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,GRAMD1B,HEPACAM,HEPN1,HSPA8,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,LOC341056,MIR100,MIR100HG,MIR125B1,MIR3167,MIR4493,MIR4697,MIRLET7A2,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SNX19,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBRG1,THYN1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 121825136 121825251 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 121825136 121825251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 121825745 121825845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 121827391 121827519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 121827391 121827519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 121851001 121856300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 121852787 121854490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 121867750 121867844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 121880079 121880146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 121905759 122082893 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BLID,MIR100,MIR100HG,MIR125B1,MIRLET7A2 chr11 121907091 121907191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 121955123 121955223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 121955123 121955225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 121955123 121955225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 121961672 121961772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR100HG chr11 122000000 131630000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,HEPACAM,HEPN1,HSPA8,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC341056,MIR100,MIR100HG,MIR3167,MIR4493,MIRLET7A2,MSANTD2,NFRKB,NRGN,NTM,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SNX19,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VSIG2,VWA5A,ZBTB44,ZNF202 chr1 1122001 1132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTLL10 chr11 122031640 122190390 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR100HG chr11 122031640 122190390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR100HG chr11 122031640 122190390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR100HG chr11 122031654 122188363 Gain and loss Pancreatic cancer SNP array 17952125 MIR100HG chr11 122045364 122195591 Duplication Normal Affymetrix 6.0 microarrays 20967226 MIR100HG chr1 11220577 11220683 Gain and loss Pancreatic cancer SNP array 17952125 MTOR chr11 122100517 122100570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 122102128 122102229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122102128 122102229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122103306 122137120 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 122134524 122134614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 122134942 122135042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 122158782 134439182 Loss Developmental delay affymetrix genechip 500K/SNP 6.48 array 21147756 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,GRAMD1B,HEPACAM,HEPN1,HSPA8,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,LOC341056,MIR3167,MIR4493,MIR4697,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SNX19,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBRG1,THYN1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 122193598 122193698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 122214416 122248544 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 122214416 122248544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122214464 122248557 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr11 122214465 122248548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122215282 122215382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 12225753 12225829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICAL2 chr11 122258601 122335639 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122258682 122335640 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 122258683 122335639 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 122258683 122335639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122258683 122335639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122263650 134452384 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,BSX,C11orf45,C11orf63,CCDC15,CDON,CHEK1,CLMP,CRTAM,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,GRAMD1B,HEPACAM,HEPN1,HSPA8,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,LOC341056,MIR3167,MIR4493,MIR4697,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SNX19,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBRG1,THYN1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,UBASH3B,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 122281808 122281900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 122293794 122294843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 12229501 12273000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL2 chr11 122302952 122303091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122302952 122303091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122302952 122303094 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122353488 122357638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122353488 122357638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122353567 122357589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122379514 122379581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122379514 122379581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122385867 122385937 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr11 122393557 122394582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122393557 122394582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 12241501 12269147 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MICAL2 chr11 122427114 122427378 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122433411 122438054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122433413 122438054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122433413 122438054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122433995 122434079 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122433995 122434079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122434827 122434913 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122434827 122434913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122435252 122435340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122435253 122435340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 122435253 122435340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 122448245 122571217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBASH3B chr11 122448245 122571217 Gain and loss Pancreatic cancer SNP array 17952125 UBASH3B chr11 122448245 122571217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBASH3B chr11 122561819 122561919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBASH3B chr11 122622859 122622959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBASH3B chr11 122625496 122625528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBASH3B chr11 12265023 12337267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICAL2,MICALCL chr11 12265023 12337267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL2,MICALCL chr11 122663431 123143910 Duplication Normal - 21586113 BSX,C11orf63,CLMP,CRTAM,HSPA8,LOC341056,UBASH3B chr11 122677308 122677441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBASH3B chr11 122677308 122677442 Gain and loss Pancreatic cancer SNP array 17952125 UBASH3B chr11 122677310 122677442 Gain and loss Pancreatic cancer SNP array 17952125 UBASH3B chr11 122712858 122712958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTAM chr11 12271946 12337267 Gain and loss Pancreatic cancer SNP array 17952125 MICAL2,MICALCL chr11 122735230 122735285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRTAM chr1 112275886 112782935 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DDX20,FAM212B,KCND3,LOC100506343,LOC643355 chr11 122784405 123050005 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BSX,C11orf63,CLMP,HSPA8,LOC341056 chr11 122856113 122856187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 122856144 122856244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 122898388 124208920 LOH Normal High-resolution SNP genotyping 21211785 CLMP,GRAMD1B,HSPA8,MIR4493,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,SCN3B,TMEM225,VWA5A,ZNF202 chr11 122901738 122998728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLMP,HSPA8 chr11 122908057 122939829 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSPA8 chr11 12292554 12292608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 122926863 123352074 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLMP,HSPA8,MIR4493 chr11 122936247 123002319 Gain and loss Pancreatic cancer SNP array 17952125 CLMP chr11 1229501 1366000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC255512,MUC5B,TOLLIP chr11 122973978 122975193 Gain and loss Pancreatic cancer SNP array 17952125 CLMP chr11 122992380 122992480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLMP chr11 123005107 123030165 Gain and loss Pancreatic cancer SNP array 17952125 CLMP chr11 123005107 123030525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLMP chr11 123005107 123030525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLMP chr11 123066235 123066329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 123072983 123073071 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr11 123098099 123098191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 123100207 123117573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123100207 123117573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123100699 123117573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123129498 123130436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123129498 123130436 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123129498 123130436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123131946 123442115 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GRAMD1B,MIR4493 chr11 123139845 123140006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123139845 123140007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123139845 123140007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123153872 123162147 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 123181326 123182267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123181326 123182267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123181326 123182267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123215921 132445227 Loss Developmental delay affymetrix genechip 500K/SNP 6.49 array 21147756 ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GRAMD1B,HEPACAM,HEPN1,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,MIR3167,MIR4493,MSANTD2,NFRKB,NRGN,NTM,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SNX19,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 12322113 13274129 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100506305,MICALCL,PARVA,RASSF10,TEAD1 chr11 123252803 123608170 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 GRAMD1B,SCN3B,ZNF202 chr11 123258843 123261550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123258843 123261550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123282349 123283293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123282349 123283293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123282349 123283293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112330716 119098476 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,BCAS2,BCL2L15,CAPZA1,CASQ2,CD101,CD2,CD58,CSDE1,CTTNBP2NL,DCLRE1B,DENND2C,FAM19A3,FAM46C,GDAP2,HIPK1,IGSF3,KCND3,LOC643355,LOC643441,LRIG2,MAB21L3,MAGI3,MAN1A2,MIR320B1,MIR4256,MIR942,MOV10,NGF,NHLH2,NRAS,OLFML3,PHTF1,PPM1J,PTGFRN,PTPN22,RHOC,RSBN1,SIKE1,SLC16A1,SLC22A15,SPAG17,ST7L,SYCP1,SYT6,TRIM33,TRIM45,TSHB,TSPAN2,TTF2,VANGL1,VTCN1,WDR3,WNT2B chr11 123315534 123316490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123315534 123316490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123315534 123316490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123318784 123319755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123318784 123319755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123318784 123319755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123352613 123353581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123352613 123353608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123352613 123353608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123370080 123371078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123370080 123371078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123391486 123392427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123391486 123392427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123391492 123406442 Gain and loss Pancreatic cancer SNP array 17952125 GRAMD1B chr11 123398924 123399865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123398924 123399865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123405534 123406475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123405534 123406475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123413983 123414918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123413983 123414918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123414001 123414918 Gain and loss Pancreatic cancer SNP array 17952125 GRAMD1B chr11 123430716 123431544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123430716 123431619 Gain and loss Pancreatic cancer SNP array 17952125 GRAMD1B chr11 123469553 123470449 Gain and loss Pancreatic cancer SNP array 17952125 GRAMD1B chr11 123469553 123470449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123478205 123478282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRAMD1B chr11 123479520 123479620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRAMD1B chr11 123480993 123481885 Gain and loss Pancreatic cancer SNP array 17952125 GRAMD1B chr11 123480993 123481885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B chr11 123491321 123522826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B,SCN3B chr11 123491321 123522826 Gain and loss Pancreatic cancer SNP array 17952125 GRAMD1B,SCN3B chr11 123491321 123522826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1B,SCN3B chr11 123500000 127400000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACRV1,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,FAM118B,FEZ1,FLJ39051,FOXRED1,HEPACAM,HEPN1,HYLS1,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,MIR3167,MSANTD2,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SPA17,SRPR,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM225,VSIG2,VWA5A,ZNF202 chr11 123500000 127400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACRV1,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,FAM118B,FEZ1,FLJ39051,FOXRED1,HEPACAM,HEPN1,HYLS1,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,MIR3167,MSANTD2,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SPA17,SRPR,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM225,VSIG2,VWA5A,ZNF202 chr11 123500000 127400000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ACRV1,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,FAM118B,FEZ1,FLJ39051,FOXRED1,HEPACAM,HEPN1,HYLS1,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,MIR3167,MSANTD2,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SPA17,SRPR,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM225,VSIG2,VWA5A,ZNF202 chr11 123500000 130300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACRV1,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,HEPACAM,HEPN1,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,MIR3167,MSANTD2,NFRKB,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SCN3B,SIAE,SLC37A2,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 123513399 123513499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN3B chr11 123531640 134373617 Loss or gain Non-syndromic sensorineural hearing loss array CGH 18496225 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,HEPACAM,HEPN1,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,MIR3167,MIR4697,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SIAE,SLC37A2,SNX19,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBRG1,THYN1,TIRAP,TMEM218,TMEM225,TMEM45B,TP53AIP1,VPS26B,VSIG2,VWA5A,ZBTB44,ZNF202 chr11 123534338 123535012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123534338 123535012 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123534338 123535012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123539663 123823917 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR4D5,OR6M1,OR6T1,OR6X1,OR8D4,TMEM225,ZNF202 chr11 12355679 12508914 Gain and loss Pancreatic cancer SNP array 17952125 MICALCL,PARVA chr11 12355722 12507986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICALCL,PARVA chr11 123561187 123562125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123561187 123562125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 12358302 12358925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MICALCL chr11 123583100 123584032 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123583100 123584032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123590093 123592201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 123590556 123591544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123590804 123591592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123590881 123603371 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ZNF202 chr11 123591513 123601487 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF202 chr11 123591632 123601265 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF202 chr11 123600647 123601575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF202 chr11 123600647 123601575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF202 chr11 123603371 124781017 LOH Normal High-resolution SNP genotyping 21211785 ESAM,MSANTD2,NRGN,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PANX3,ROBO3,ROBO4,SIAE,SPA17,TBRG1,TMEM225,VSIG2,VWA5A,ZNF202 chr11 123605226 123823917 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR4D5,OR6M1,OR6T1,OR6X1,OR8D4,TMEM225,ZNF202 chr11 123625633 123640973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123625633 123640973 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123625633 123640973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123626493 123626493 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr11 123670101 123747614 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 OR6M1 chr11 123671714 123671814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 123684946 123685872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123684946 123685872 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123684946 123685872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123694368 123695303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123694368 123695303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123694368 123695303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112372962 112373062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCND3 chr11 123740731 123741657 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123745108 124386417 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-685K arrays 21546498 OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6T1,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,TMEM225,VWA5A chr11 123757508 123758449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123757508 123758449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123759570 123771171 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 123771516 123772457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123771516 123772457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123771537 123772457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123799048 123799977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123799048 123799977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123799048 123799977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123815256 123816191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123815256 123816191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123815256 123816191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112388207 112388307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCND3 chr11 123900000 127800000 Copy number Schizophrenia References 19571808 ACRV1,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,FAM118B,FEZ1,FLJ39051,FOXRED1,HEPACAM,HEPN1,HYLS1,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,MIR3167,MSANTD2,NRGN,OR10G7,OR10G8,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PUS3,ROBO3,ROBO4,RPUSD4,SIAE,SLC37A2,SPA17,SRPR,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,VSIG2,VWA5A chr11 123900000 130800000 Loss and deletion Multiple myeloma Array CGH 16616336 ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,HEPACAM,HEPN1,HYLS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,MIR3167,MSANTD2,NFRKB,NRGN,OR10G7,OR10G8,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SIAE,SLC37A2,SNX19,SPA17,SRPR,ST14,ST3GAL4,STT3A,TBRG1,TIRAP,TMEM218,TMEM45B,TP53AIP1,VSIG2,VWA5A,ZBTB44 chr11 123900000 135006516 Gain Myelodysplastic syndrome Array CGH 18663149 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,HEPACAM,HEPN1,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,MIR3167,MIR4697,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR10G7,OR10G8,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SIAE,SLC37A2,SNX19,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBRG1,THYN1,TIRAP,TMEM218,TMEM45B,TP53AIP1,VPS26B,VSIG2,VWA5A,ZBTB44 chr11 123900000 135006516 Loss Basal cell lymphoma Array CGH 16317097 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,HEPACAM,HEPN1,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,MIR3167,MIR4697,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR10G7,OR10G8,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SIAE,SLC37A2,SNX19,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBRG1,THYN1,TIRAP,TMEM218,TMEM45B,TP53AIP1,VPS26B,VSIG2,VWA5A,ZBTB44 chr11 123900000 135006516 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,HEPACAM,HEPN1,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,MIR3167,MIR4697,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR10G7,OR10G8,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8G1,OR8G2,OR8G5,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SIAE,SLC37A2,SNX19,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBRG1,THYN1,TIRAP,TMEM218,TMEM45B,TP53AIP1,VPS26B,VSIG2,VWA5A,ZBTB44 chr11 123904268 123904368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 123917828 123918760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123917828 123918760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123917828 123918760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123918986 123919081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 123945175 123946564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123945175 123946564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 123945226 123946155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 123964520 123964608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112397961 112426840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCND3 chr11 123986663 123995462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWA5A chr11 123986663 123995462 Gain and loss Pancreatic cancer SNP array 17952125 VWA5A chr11 123986663 123995462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA5A chr1 112399231 112399271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCND3 chr11 123997981 124009440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWA5A chr11 123997981 124009440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA5A chr11 123998266 124010497 Gain and loss Pancreatic cancer SNP array 17952125 VWA5A chr11 124010904 124048973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWA5A chr11 124010904 124048973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA5A chr11 124010904 124050785 Gain and loss Pancreatic cancer SNP array 17952125 VWA5A chr11 124011565 124011654 Gain and loss Pancreatic cancer SNP array 17952125 VWA5A chr11 124011565 124011685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA5A chr11 124011565 124011688 Gain and loss Pancreatic cancer SNP array 17952125 VWA5A chr1 112402144 112423342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCND3 chr11 124048950 124069895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 124048950 124069895 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 124048950 124069895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 124075244 124075344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1241118 1249456 Copy number Autism exome sequencing 22495311 MUC5B chr11 124114952 124122309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8G1 chr11 124114952 124122309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8G1 chr11 124115038 124122312 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 OR8G1 chr11 124115151 124122312 Gain and loss Pancreatic cancer SNP array 17952125 OR8G1 chr11 124122579 124127344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8G1 chr11 124122579 124127344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8G1 chr11 124122579 124127378 Gain and loss Pancreatic cancer SNP array 17952125 OR8G1 chr11 124128229 124137433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8G1,OR8G5 chr11 124128229 124137433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8G1,OR8G5 chr11 124128240 124137396 Gain and loss Pancreatic cancer SNP array 17952125 OR8G1,OR8G5 chr11 124141604 124175509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 124141604 124175509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 124141606 124175509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 12419252 12419352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARVA chr11 124198863 124198963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 124227007 124227107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 124230619 124230681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 124233701 124233733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 124240492 124261676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8B2 chr11 124240492 124273766 Gain and loss Pancreatic cancer SNP array 17952125 OR8B2,OR8B3 chr11 124242020 124277270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8B2,OR8B3 chr11 124242076 124242176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 124252682 124279531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8B2,OR8B3 chr11 124258797 124272939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8B3 chr11 124258797 124272939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8B3 chr11 124258797 124272951 Gain and loss Pancreatic cancer SNP array 17952125 OR8B3 chr11 124280240 124283503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 124280245 124283508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 124294304 124311156 Gain and loss Pancreatic cancer SNP array 17952125 OR8B4,OR8B8 chr11 124294358 124311518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8B4,OR8B8 chr11 124294358 124311518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8B4,OR8B8 chr11 124294857 124295123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1 124300000 Amplification and loss Neuroblastoma - 17897457 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Chromosomal rearrangement Papillary thyroid carcinoma References 21436994 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Copy number Glioma multiple ligation-dependent probe amplification 21971842 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Copy number Uveal melanoma Multiplex ligation-dependent probe amplification 21693616 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Deletion Colorectal cancer CGH 20709793 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Deletion Ewing's sarcoma Karyotyping and CGH(Reference) 21437220 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Deletion Neuroblastoma FISH 21484798 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Deletion Normal - 20616218 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Duplication Non-syndromic sensorineural hearing loss - 22290220 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Gain Glioblastoma multiforme aCGH 21080181 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Gain Liposarcoma FISH, CGH 21253554 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Gain or loss Breast cancer aCGH 21264507 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Loss Astrocytoma CGH 17387387 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Loss Cancer - 21499728 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Loss Glioblastoma multiforme aCGH 21080181 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Loss Glioblastoma multiforme CGH 17387387 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Loss Glioblastoma multiforme conventional CGH 21080181 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 124300000 Loss Oligodendroglial tumors CGH 17285580 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 112430344 112430444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCND3 chr11 124329227 124414201 Gain and loss Pancreatic cancer SNP array 17952125 OR8B12 chr11 124329227 124416593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8B12 chr11 124329227 124416593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8B12 chr11 124330777 124330856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 124335349 124335456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 1243358 1243421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 124367724 134445626 Deletion Autism Illumina HumanHap558 BeadChip 20858243 ACAD8,ACRV1,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,CCDC15,CDON,CHEK1,DCPS,DDX25,EI24,ESAM,ETS1,FAM118B,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXRED1,GLB1L2,GLB1L3,HEPACAM,HEPN1,HYLS1,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,MIR3167,MIR4697,MSANTD2,NCAPD3,NFRKB,NRGN,NTM,OPCML,OR8A1,OR8B12,PANX3,PATE1,PATE2,PATE3,PATE4,PKNOX2,PRDM10,PUS3,ROBO3,ROBO4,RPUSD4,SIAE,SLC37A2,SNX19,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TBRG1,THYN1,TIRAP,TMEM218,TMEM45B,TP53AIP1,VPS26B,VSIG2,ZBTB44 chr11 124373403 124399766 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 124438223 124464341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8A1 chr11 124438223 124464341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8A1 chr11 124438223 124469985 Gain and loss Pancreatic cancer SNP array 17952125 OR8A1 chr11 124444990 124445090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 124445351 124580649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PANX3,SIAE,SPA17,TBRG1 chr11 124464672 124465276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 124472141 124477347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 124472173 124486719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PANX3 chr11 124472173 124486719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PANX3 chr11 124488267 124501887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PANX3,TBRG1 chr11 124488273 124501887 Gain and loss Pancreatic cancer SNP array 17952125 PANX3,TBRG1 chr1 112450189 112450268 Gain and loss Pancreatic cancer SNP array 17952125 KCND3 chr11 124529138 125115632 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CCDC15,ESAM,HEPACAM,HEPN1,MSANTD2,NRGN,PKNOX2,ROBO3,ROBO4,SIAE,SLC37A2,SPA17,TMEM218,VSIG2 chr11 124539769 124808495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESAM,HEPACAM,HEPN1,MSANTD2,NRGN,ROBO3,ROBO4,SIAE,SPA17,VSIG2 chr11 124539769 124808495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESAM,HEPACAM,HEPN1,MSANTD2,NRGN,ROBO3,ROBO4,SIAE,SPA17,VSIG2 chr11 124539812 124808492 Gain and loss Pancreatic cancer SNP array 17952125 ESAM,HEPACAM,HEPN1,MSANTD2,NRGN,ROBO3,ROBO4,SIAE,SPA17,VSIG2 chr11 124558296 124558585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPA17 chr11 124577136 124588915 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 124620255 125295224 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CCDC15,ESAM,HEPACAM,HEPN1,MSANTD2,PKNOX2,ROBO3,ROBO4,SLC37A2,TMEM218,VSIG2 chr11 124652658 124652762 Gain and loss Pancreatic cancer SNP array 17952125 MSANTD2 chr11 124652658 124652762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSANTD2 chr11 124652662 124652763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSANTD2 chr11 1246550 1246781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUC5B chr11 124714078 125280002 Loss Urothelial carcinoma array CGH validated by FISH 21177765 CCDC15,HEPACAM,HEPN1,PKNOX2,ROBO3,ROBO4,SLC37A2,TMEM218 chr11 124740792 124740824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO3 chr11 124743609 125657703 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-715K arrays 21546498 ACRV1,CCDC15,CHEK1,EI24,FEZ1,HEPACAM,HEPN1,PATE1,PATE2,PKNOX2,ROBO3,ROBO4,SLC37A2,STT3A,TMEM218 chr11 124745557 124758015 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ROBO3,ROBO4 chr11 124764013 125305474 LOH Normal High-resolution SNP genotyping 21211785 CCDC15,HEPACAM,HEPN1,PKNOX2,ROBO4,SLC37A2,TMEM218 chr11 124787459 125786780 LOH Normal High-resolution SNP genotyping 21211785 ACRV1,CCDC15,CHEK1,DDX25,EI24,FEZ1,HEPACAM,HEPN1,HYLS1,PATE1,PATE2,PATE3,PATE4,PKNOX2,PUS3,SLC37A2,STT3A,TMEM218 chr11 124792438 125786780 LOH Normal High-resolution SNP genotyping 21211785 ACRV1,CCDC15,CHEK1,DDX25,EI24,FEZ1,HEPACAM,HYLS1,PATE1,PATE2,PATE3,PATE4,PKNOX2,PUS3,SLC37A2,STT3A,TMEM218 chr11 124801596 124801720 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HEPACAM chr11 124809211 124871416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC15 chr11 124809211 124871416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC15 chr11 124817219 124817581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 124820860 124871333 Gain and loss Pancreatic cancer SNP array 17952125 CCDC15 chr11 124837906 124863727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC15 chr11 124863305 124871333 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CCDC15 chr11 124870175 125421492 Loss or gain Normal 244K array 17666407 CCDC15,FEZ1,PKNOX2,SLC37A2,TMEM218 chr11 124870318 124871917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC15 chr11 124870435 124871917 Gain and loss Pancreatic cancer SNP array 17952125 CCDC15 chr1 112489834 112497197 Loss Normal Birdsuite, version 1.5.2 22087296 KCND3 chr1 112489834 112498697 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KCND3 chr1 112489835 112507466 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KCND3 chr1 112491838 112507466 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KCND3 chr1 112492978 112507399 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 KCND3 chr1 112492978 112507399 Total allelic loss Normal High-resolution SNP genotyping 21211785 KCND3 chr1 112493314 112506226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCND3 chr1 112493657 112506352 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 KCND3 chr1 112493657 112506352 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KCND3 chr1 112494152 112506316 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KCND3 chr11 124944508 124959784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC37A2 chr11 124944508 124959784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC37A2 chr11 124944622 124959731 Gain and loss Pancreatic cancer SNP array 17952125 SLC37A2 chr11 124949825 124949922 Gain and loss Pancreatic cancer SNP array 17952125 SLC37A2 chr11 124949825 124949922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC37A2 chr11 124949825 124949924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC37A2 chr1 112496243 112497197 Deletion Medulloblastoma Illumina SNP arrays 21163964 KCND3 chr11 124964464 124964554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM218 chr11 124967963 124996478 Gain and loss Pancreatic cancer SNP array 17952125 TMEM218 chr11 124967967 124996162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM218 chr11 124967967 124996162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM218 chr1 112497197 112498913 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KCND3 chr1 112497197 112498913 Loss Normal Birdsuite, version 1.5.2 22087296 KCND3 chr1 112497197 112507479 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KCND3 chr1 112497197 112507629 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112497197 112507651 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112497197 112507660 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112497197 112507709 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112497197 112507729 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112497200 112498913 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KCND3 chr1 112497476 112507639 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112497704 112507705 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112497704 112507709 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112497704 112507729 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCND3 chr1 112498913 112507741 Loss Normal Birdsuite, version 1.5.2 22087296 KCND3 chr1 1 125000000 Copy number Neuroblastoma CGH 17535989 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Copy number Pheochromocytoma CGH 17535989 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Copy number Prostate cancer Human Genome U133 Plus 2.0 arrays, Affymetrix GCOS software 16705090 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Deletion Colorectal cancer GISTIC software 19359472 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Deletion Neuroblastoma Affymetrix 50K, 250K SNP arrays from 18664255 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Gain Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Gain Multiple myeloma CGH, Real-Time PCR 17077331 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Gain Myofibroblastic sarcoma CGH 19369631 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Loss Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Loss Gastrointestinal stromal cancer CGH 17535989 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Loss Gastrointestinal stromal cancer CGH 20470368 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Loss Neuroblastoma Affymetrix U133 Plus 2 chip 17533364 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Loss Paraganglioma CGH 17535989 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 125000000 Loss Pulmonary chondroma CGH 17535989 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 125000245 125051360 Gain or loss Breast cancer - 20668451 PKNOX2 chr11 125000245 125051360 Gain or loss Cancer - 20668451 PKNOX2 chr11 125000245 125051360 Gain or loss Lung cancer - 20668451 PKNOX2 chr11 125000245 125051360 Gain or loss Ovarian cancer - 20668451 PKNOX2 chr11 125000245 125051360 Gain or loss Pancreas cancer - 20668451 PKNOX2 chr11 125000245 125051360 Gain or loss Prostate cancer - 20668451 PKNOX2 chr11 125001547 125030847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 125001547 125030847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 125001547 125030847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 125001547 125215177 Deletion Aniridia syndrome 250K single nucleotide polymorphism (SNP) arrays 21423868 PKNOX2 chr11 125024851 125024907 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 125024851 125025021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 125047440 125056152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125047440 125056152 Gain and loss Pancreatic cancer SNP array 17952125 PKNOX2 chr11 125047440 125056152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125070788 125070877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKNOX2 chr11 125098235 125098305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKNOX2 chr11 125121398 125124952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125121398 125124952 Gain and loss Pancreatic cancer SNP array 17952125 PKNOX2 chr11 125121398 125124952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125124733 125157867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PKNOX2 chr11 125126441 125126541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKNOX2 chr11 125136200 125136288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKNOX2 chr11 125151245 125153924 Gain and loss Pancreatic cancer SNP array 17952125 PKNOX2 chr11 125151268 125153924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125151268 125153924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr1 112519772 112519842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCND3 chr11 1252178 1287425 Gain and loss Pancreatic cancer SNP array 17952125 MUC5B chr11 1252178 1287428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MUC5B chr11 1252178 1287428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUC5B chr11 125224649 125224802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKNOX2 chr11 125230475 125239592 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PKNOX2 chr11 12525250 12525345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARVA chr11 125258719 125275749 Gain and loss Pancreatic cancer SNP array 17952125 PKNOX2 chr11 125258719 125275750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125258719 125275750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr1 112525891 112570301 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCND3,LOC643355 chr1 112525959 112555233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCND3,LOC643355 chr1 112526583 112526654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCND3 chr11 125268590 125278326 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PKNOX2 chr11 125268591 125278315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125268591 125278315 Deletion T-cell lymphomas Array-CGH 22341440 PKNOX2 chr11 125268591 125278315 Gain and loss Pancreatic cancer SNP array 17952125 PKNOX2 chr11 125268591 125278315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125279550 125298213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125279550 125298213 Gain and loss Pancreatic cancer SNP array 17952125 PKNOX2 chr11 125279550 125298213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKNOX2 chr11 125279613 125298215 Deletion T-cell lymphomas Array-CGH 22341440 PKNOX2 chr11 125293596 125338476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FEZ1,PKNOX2 chr11 125294195 125315781 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FEZ1,PKNOX2 chr11 125295224 125989009 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACRV1,CDON,CHEK1,DDX25,EI24,FEZ1,HYLS1,PATE1,PATE2,PATE3,PATE4,PKNOX2,PUS3,STT3A chr11 125331927 125438397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FEZ1 chr11 125331927 125438397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FEZ1 chr11 125335784 125438397 Deletion T-cell lymphomas Array-CGH 22341440 FEZ1 chr11 125335784 125438405 Gain and loss Pancreatic cancer SNP array 17952125 FEZ1 chr11 125356243 125359287 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FEZ1 chr11 125365063 125365140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FEZ1 chr1 112539670 112539749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643355 chr1 112541774 112541828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125442729 125443705 Gain and loss Pancreatic cancer SNP array 17952125 EI24 chr11 125479377 125479744 Deletion Breast cancer Illumina 1M duo array 20393555 STT3A chr11 125479437 125559000 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACRV1,CHEK1,STT3A chr11 125538653 125582815 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACRV1,CHEK1 chr11 125546394 125546494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACRV1 chr11 125546404 125546484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACRV1 chr11 125577519 125586751 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 125577519 125586758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 125577534 125586758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 125577534 125586758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11255866 11277699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANGPTL7,MTOR chr1 11255866 11277699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANGPTL7,MTOR chr11 125586829 125637750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PATE1 chr11 125586829 125637750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PATE1 chr11 125586905 125637681 Gain and loss Pancreatic cancer SNP array 17952125 PATE1 chr11 125589428 125589583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 125589443 125589583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 125591600 125620856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PATE1 chr11 125599041 125599141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125604330 125637751 Deletion T-cell lymphomas Array-CGH 22341440 PATE1 chr11 125620140 125620387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 125620140 125620387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 12562937 12563037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125638046 125643960 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 125638052 125643960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 125638052 125643960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 125644251 125653229 Gain and loss Pancreatic cancer SNP array 17952125 PATE2 chr11 125644265 125653236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PATE2 chr11 125644265 125653236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PATE2 chr11 125644265 125653237 Deletion T-cell lymphomas Array-CGH 22341440 PATE2 chr11 125656762 125656840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 125656762 125656840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 125658191 125670038 Gain or loss Breast cancer - 20668451 PATE3 chr11 125658191 125670038 Gain or loss Cancer - 20668451 PATE3 chr11 125658191 125670038 Gain or loss Lung cancer - 20668451 PATE3 chr11 125658191 125670038 Gain or loss Ovarian cancer - 20668451 PATE3 chr11 125658191 125670038 Gain or loss Pancreas cancer - 20668451 PATE3 chr11 125658191 125670038 Gain or loss Prostate cancer - 20668451 PATE3 chr11 125658192 125670038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PATE3 chr11 125658192 125670038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PATE3 chr11 125658212 125672683 Deletion T-cell lymphomas Array-CGH 22341440 PATE3 chr11 125658212 125672683 Gain and loss Pancreatic cancer SNP array 17952125 PATE3 chr11 125659053 125696284 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 PATE3 chr11 125661775 125661865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125678857 125720853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PATE4 chr11 125678857 125720853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PATE4 chr11 125678857 125720854 Deletion T-cell lymphomas Array-CGH 22341440 PATE4 chr11 125678857 125720854 Gain and loss Pancreatic cancer SNP array 17952125 PATE4 chr11 125691807 125691923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 125691807 125691923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 125701001 125757000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HYLS1,PATE4 chr11 125724634 125724723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125727054 125727154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125730789 125815743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX25,HYLS1,PUS3 chr11 125730789 125815743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX25,HYLS1,PUS3 chr11 125731306 125789743 Deletion T-cell lymphomas Array-CGH 22341440 DDX25,HYLS1,PUS3 chr11 125731306 125815962 Gain and loss Pancreatic cancer SNP array 17952125 DDX25,HYLS1,PUS3 chr11 125746837 125746937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125757001 125760000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HYLS1 chr11 125760001 125984500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDON,DDX25,HYLS1,PUS3 chr11 125774023 125774071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125798464 125938022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDON chr11 125798464 125938022 Gain and loss Pancreatic cancer SNP array 17952125 CDON chr11 125798464 125938022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDON chr11 125799685 126375615 Deletion T-cell lymphomas Array-CGH 22341440 CDON,DCPS,FAM118B,FLJ39051,FOXRED1,KIRREL3,RPUSD4,SRPR,ST3GAL4,TIRAP chr11 125855565 126161131 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CDON,FAM118B,FOXRED1,RPUSD4,SRPR,TIRAP chr11 125855565 131590593 Loss Developmental delay affymetrix genechip 500K/SNP 6.50 array 21147756 ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,CDON,DCPS,ETS1,FAM118B,FLI1,FLI1-AS1,FLJ39051,FOXRED1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,MIR3167,NFRKB,NTM,PRDM10,RPUSD4,SNX19,SRPR,ST14,ST3GAL4,TIRAP,TMEM45B,TP53AIP1,ZBTB44 chr11 125886723 125886817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDON chr11 12591132 12625561 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 125937752 125937837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 125989009 126262374 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 DCPS,FAM118B,FLJ39051,FOXRED1,RPUSD4,SRPR,ST3GAL4,TIRAP chr11 125995073 127344152 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCPS,FAM118B,FLJ39051,FOXRED1,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,MIR3167,RPUSD4,SRPR,ST3GAL4,TIRAP chr11 12600000 16100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARNTL,BTBD10,CALCA,CALCB,COPB1,CYP2R1,FAR1,INSC,LOC100506305,PDE3B,PSMA1,PTH,RASSF10,RRAS2,SOX6,SPON1,TEAD1 chr11 12600000 16100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARNTL,BTBD10,CALCA,CALCB,COPB1,CYP2R1,FAR1,INSC,LOC100506305,PDE3B,PSMA1,PTH,RASSF10,RRAS2,SOX6,SPON1,TEAD1 chr11 12600000 26000000 Gain Multiple myeloma CGH, FISH 16461302 ABCC8,ANO5,ARNTL,BTBD10,C11orf58,CALCA,CALCB,COPB1,CSRP3,CYP2R1,DBX1,E2F8,FANCF,FAR1,GAS2,GTF2H1,HPS5,HTATIP2,IGSF22,INSC,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC100500938,LOC100506305,LOC494141,LUZP2,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PDE3B,PIK3C2A,PLEKHA7,PRMT3,PSMA1,PTH,PTPN5,RASSF10,RPS13,RRAS2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC17A6,SLC6A5,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,SVIP,TEAD1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 12600000 96700000 Loss Non-small cell lung cancer - 21385341 ABCC8,ABTB2,ACCS,ACCSL,ACER3,ACP2,ACTN3,ACY3,ADRBK1,AGBL2,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALKBH3,ALX4,AMBRA1,AMOTL1,ANAPC15,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,AP5B1,API5,APIP,APLNR,AQP11,ARAP1,ARFGAP2,ARHGAP1,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ASRGL1,ATG13,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBOX1,BBS1,BDNF,BDNF-AS,BEST1,BRMS1,BSCL2,BTBD10,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf49,C11orf54,C11orf58,C11orf67,C11orf68,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf91,C11orf94,C11orf95,C11orf96,C1QTNF4,C2CD3,CABP2,CABP4,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARNS1,CAT,CATSPER1,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD44,CD5,CD59,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CELF1,CEP57,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHST1,CKAP5,CLCF1,CLNS1A,CLP1,CLPB,CNIH2,CNTF,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRY2,CSRP3,CST6,CSTF3,CTNND1,CTSC,CTSF,CTSW,CTTN,CWC15,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DDB1,DDB2,DEFB108B,DEPDC7,DGAT2,DGKZ,DHCR7,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DLG2,DNAJB13,DNAJC24,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,E2F8,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EHF,EIF1AD,EIF3M,ELF5,ELP4,EML3,ENDOD1,ESRRA,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FRMD8,FSHB,FTH1,FUT4,FZD4,GAB2,GAL,GAL3ST3,GANAB,GAS2,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY2EP,GYLTL1B,HARBI1,HEPHL1,HIPK3,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HRASLS2,HRASLS5,HSD17B12,HTATIP2,IGHMBP2,IGSF22,IL18BP,IMMP1L,INCENP,INPPL1,INSC,INTS4,INTS5,JRKL,JRKL-AS1,KAT5,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ11,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KDM4D,KDM4E,KIAA1549L,KIAA1731,KIF18A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00294,LINC00301,LIPT2,LMO2,LOC100126784,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100500938,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100996455,LOC221122,LOC254100,LOC283194,LOC283214,LOC338739,LOC440040,LOC441601,LOC494141,LOC643037,LOC646813,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRN4CL,LRTOMT,LTBP3,LUZP2,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MIR1237,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR3973,MIR4300,MIR4486,MIR4488,MIR4489,MIR4490,MIR4688,MIR4690,MIR4691,MIR4692,MIR4694,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR708,MOGAT2,MPEG1,MPPED2,MRE11A,MRGPRD,MRGPRF,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MUC15,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NOX4,NPAS4,NR1H3,NRXN2,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NXF1,ODZ4,OMP,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E14P,OR7E2P,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAK1,PAMR1,PANX1,PATL1,PAX6,PC,PCF11,PCNXL3,PDE2A,PDE3B,PDHX,PELI3,PEX16,PGA3,PGA4,PGA5,PGM2L1,PHF21A,PHOX2A,PICALM,PIK3C2A,PITPNM1,PIWIL4,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRCP,PRDM11,PRDX5,PRG2,PRG3,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCN1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,ROM1,RPLP0P2,RPS13,RPS3,RPS6KA4,RPS6KB2,RRAS2,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC36A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNX15,SNX32,SOX6,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRSF8,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SVIP,SYT12,SYT13,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,THRSP,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM126A,TMEM126B,TMEM132A,TMEM134,TMEM135,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMEM86A,TMX2,TMX2-CTNND1,TNKS1BP1,TP53I11,TPBGL,TPCN2,TPH1,TRAF6,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM64C,TRIM77P,TRMT112,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TTC17,TTC9C,TUT1,TYR,UBE2L6,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,USH1C,USP35,UVRAG,VEGFB,VPS37C,VPS51,VSTM5,VWCE,WDR74,WNT11,WT1,WT1-AS,XRRA1,YIF1A,YPEL4,ZBTB3,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF408,ZNHIT2,ZP1 chr1 1 12600000 Gain Glioblastoma multiforme aCGH 21080181 ACAP3,ACOT7,ACTRT2,AGRN,AGTRAP,AJAP1,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf127,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CASZ1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CLCN6,CLSTN1,CORT,CPSF3L,CTNNBIP1,DDX11L1,DFFA,DFFB,DNAJC11,DRAXIN,DVL1,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FBXO2,FBXO44,FBXO6,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KIAA2013,KIF1B,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIB2,MIIP,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MTHFR,MTOR,MTOR-AS1,MXRA8,NADK,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PARK7,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHN1,PLOD1,PRDM16,PRKCZ,PTCHD2,PUSL1,RBP7,RER1,RERE,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPSB1,SRM,SSU72,TARDBP,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D,VWA1,WASH7P,WRAP73,ZBTB48 chr1 1 12600000 Gain Normal Human genome CGH 58k ARRAY PLATFORM 22144094 ACAP3,ACOT7,ACTRT2,AGRN,AGTRAP,AJAP1,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf127,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CASZ1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CLCN6,CLSTN1,CORT,CPSF3L,CTNNBIP1,DDX11L1,DFFA,DFFB,DNAJC11,DRAXIN,DVL1,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FBXO2,FBXO44,FBXO6,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KIAA2013,KIF1B,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIB2,MIIP,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MTHFR,MTOR,MTOR-AS1,MXRA8,NADK,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PARK7,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHN1,PLOD1,PRDM16,PRKCZ,PTCHD2,PUSL1,RBP7,RER1,RERE,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPSB1,SRM,SSU72,TARDBP,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D,VWA1,WASH7P,WRAP73,ZBTB48 chr11 126002246 126002329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 126030461 126030515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 126081043 126341773 Copy number loss Normal High-resolution SNP genotyping 21211785 DCPS,FAM118B,FLJ39051,FOXRED1,KIRREL3,RPUSD4,SRPR,ST3GAL4,TIRAP chr11 12608600 13908400 Loss Prostate cancer Array CGH 18632612 ARNTL,BTBD10,FAR1,LOC100506305,PTH,RASSF10,TEAD1 chr11 126124400 126233398 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 DCPS,FAM118B,FLJ39051,FOXRED1,SRPR,ST3GAL4,TIRAP chr11 126125051 126293797 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 DCPS,FAM118B,FLJ39051,FOXRED1,KIRREL3,SRPR,ST3GAL4,TIRAP chr1 11261260 11261995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTOR chr11 126140118 126140202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXRED1 chr11 126156149 128533664 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DCPS,ETS1,FLJ39051,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,MIR3167,ST3GAL4,TIRAP chr11 126173250 126173348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 126184030 126212953 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCPS,FLJ39051 chr11 126193904 126201043 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DCPS chr11 126202009 134452384 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-682K arrays 21546498 ACAD8,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,DCPS,ETS1,FLI1,FLI1-AS1,FLJ39051,GLB1L2,GLB1L3,IGSF9B,JAM3,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,LOC100128239,LOC283174,LOC283177,MIR3167,MIR4697,NCAPD3,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,ST3GAL4,THYN1,TMEM45B,TP53AIP1,VPS26B,ZBTB44 chr11 126245678 126245775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST3GAL4 chr1 112625668 112625770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 12633728 121813520 Deletion Intellectual disability Array CGH 22102821 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACTN3,ACY3,ADRBK1,AGBL2,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,AP5B1,API5,APIP,APLNR,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARHGAP1,ARHGAP20,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ASRGL1,ATG13,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BIRC2,BIRC3,BRMS1,BSCL2,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CELF1,CEP164,CEP57,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHST1,CKAP5,CLCF1,CLDN25,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRY2,CRYAB,CSRP3,CST6,CSTF3,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX6,DEFB108B,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,E2F8,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EHF,EIF1AD,EIF3M,ELF5,ELMOD1,ELP4,EML3,ENDOD1,ESRRA,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FRMD8,FSHB,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GAS2,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GYLTL1B,H2AFX,HARBI1,HEPHL1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HRASLS2,HRASLS5,HSD17B12,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYOU1,IFT46,IGHMBP2,IGSF22,IL10RA,IL18,IL18BP,IMMP1L,INCENP,INPPL1,INSC,INTS4,INTS5,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ11,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00294,LINC00301,LIPT2,LMO2,LOC100126784,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC221122,LOC254100,LOC283143,LOC283194,LOC283214,LOC338739,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC646813,LOC649133,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRN4CL,LRTOMT,LTBP3,LUZP2,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MIR1237,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4300,MIR4301,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR708,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MUC15,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRXN2,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E14P,OR7E2P,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGM2L1,PGR,PHF21A,PHLDB1,PHOX2A,PICALM,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM11,PRDX5,PRG2,PRG3,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROM1,RPL23AP64,RPLP0P2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RRAS2,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN4B,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNX15,SNX32,SORL1,SOX6,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRSF8,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SVIP,SYT12,SYT13,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,THRSP,THY1,TIGD3,TIMM10,TIMM8B,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMEM25,TMEM86A,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53I11,TPBGL,TPCN2,TPH1,TRAF6,TRAPPC4,TREH,TRIM29,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM64C,TRIM77P,TRMT112,TRPC6,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TTC12,TTC17,TTC36,TTC9C,TUT1,TYR,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS37C,VPS51,VSTM5,VWCE,WDR74,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 126343811 126344811 Gain Chronic lymphocytic leukemia References 21215367 KIRREL3 chr11 126359959 126384633 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIRREL3 chr1 112636610 112639207 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 112636611 112639188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 12637576 125799613 Copy number Autism exome sequencing 22495311 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADRBK1,AGBL2,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,AP5B1,API5,APIP,APLNR,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARHGAP1,ARHGAP20,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ASRGL1,ATG13,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CELF1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSRP3,CST6,CSTF3,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEFB108B,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,E2F8,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3M,ELF5,ELMOD1,ELP4,EML3,ENDOD1,ESAM,ESRRA,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FRMD8,FSHB,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GAS2,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GYLTL1B,H2AFX,HARBI1,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF22,IL10RA,IL18,IL18BP,IMMP1L,INCENP,INPPL1,INSC,INTS4,INTS5,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ11,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00294,LINC00301,LIPT2,LMO2,LOC100126784,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC221122,LOC254100,LOC283143,LOC283194,LOC283214,LOC338739,LOC341056,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC646813,LOC649133,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRN4CL,LRTOMT,LTBP3,LUZP2,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4300,MIR4301,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MUC15,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRXN2,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGM2L1,PGR,PHF21A,PHLDB1,PHOX2A,PICALM,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM11,PRDX5,PRG2,PRG3,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RRAS2,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNX15,SNX32,SORL1,SOX6,SPA17,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRSF8,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SVIP,SYT12,SYT13,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,THRSP,THY1,TIGD3,TIMM10,TIMM8B,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM86A,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53I11,TPBGL,TPCN2,TPH1,TRAF6,TRAPPC4,TREH,TRIM29,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM64C,TRIM77P,TRMT112,TRPC6,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TTC12,TTC17,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 126378015 126381163 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL3 chr11 126378508 126379340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIRREL3 chr11 126394912 126395012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 126482353 126482453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 126500525 126500625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr1 112650307 112650401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112650902 112714256 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 126509390 126509454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 12652545 12922874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEAD1 chr11 12652545 12922874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEAD1 chr11 12652713 12922068 Gain and loss Pancreatic cancer SNP array 17952125 TEAD1 chr11 126530000 130230000 Gain Acute lymphoblastic leukemia - 21339820 APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,MIR3167,NFRKB,PRDM10,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 126537000 130235000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,MIR3167,NFRKB,PRDM10,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 126553569 127344152 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KIRREL3,KIRREL3-AS2,KIRREL3-AS3,MIR3167 chr1 112658365 112658405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 126594905 126595005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 126598031 126598066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 126633939 132060374 Loss Autism qPCR 20531469 ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,MIR3167,NFRKB,NTM,PRDM10,SNX19,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 126671218 126671311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 126690888 126690968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 126690933 126691019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 126705775 126709192 Amplification Normal Arbitrated Peel-off 21527027 KIRREL3 chr11 126705775 126709192 Amplification Normal Standard peel-off 21527027 KIRREL3 chr1 11267529 11282251 Gain and loss Pancreatic cancer SNP array 17952125 MTOR chr11 126760808 132830348 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LINC00167,MIR3167,NFRKB,NTM,OPCML,PRDM10,SNX19,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 126780224 126785187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIRREL3 chr11 126781110 126781437 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL3 chr11 126781133 126781437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIRREL3 chr11 126781199 126781437 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL3 chr11 126782956 126783196 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL3 chr11 126782956 126783196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIRREL3 chr11 126782956 126783275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIRREL3 chr11 1 268000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BET1L,LOC100133161,LOC653486,ODF3,PSMD13,RIC8A,SCGB1C1,SIRT3 chr11 126836641 126852428 Loss Normal Birdsuite, version 1.5.2 22087296 KIRREL3 chr11 126866108 126866208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL3 chr11 126886917 126887001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 126903025 126903172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 126903171 126903402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 126961509 126961642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 126961802 126961902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 126979765 134373558 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ACAD8,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,GLB1L2,GLB1L3,IGSF9B,JAM3,KCNJ1,KCNJ5,LINC00167,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,THYN1,TMEM45B,TP53AIP1,VPS26B,ZBTB44 chr11 12700000 16200000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ARNTL,BTBD10,CALCA,CALCB,COPB1,CYP2R1,FAR1,INSC,LOC100506305,PDE3B,PSMA1,PTH,RASSF10,RRAS2,SOX6,SPON1,TEAD1 chr11 12700000 16200000 Copy number Neuroblastoma Affymetrix 100K SNP arrays 19435921 ARNTL,BTBD10,CALCA,CALCB,COPB1,CYP2R1,FAR1,INSC,LOC100506305,PDE3B,PSMA1,PTH,RASSF10,RRAS2,SOX6,SPON1,TEAD1 chr11 12700000 16200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ARNTL,BTBD10,CALCA,CALCB,COPB1,CYP2R1,FAR1,INSC,LOC100506305,PDE3B,PSMA1,PTH,RASSF10,RRAS2,SOX6,SPON1,TEAD1 chr11 12700000 16200000 Loss Breast cancer Microarray-based CGH 17133270 ARNTL,BTBD10,CALCA,CALCB,COPB1,CYP2R1,FAR1,INSC,LOC100506305,PDE3B,PSMA1,PTH,RASSF10,RRAS2,SOX6,SPON1,TEAD1 chr1 1 12700000 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ACAP3,ACOT7,ACTRT2,AGRN,AGTRAP,AJAP1,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf127,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CASZ1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CLCN6,CLSTN1,CORT,CPSF3L,CTNNBIP1,DDX11L1,DFFA,DFFB,DHRS3,DNAJC11,DRAXIN,DVL1,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FBXO2,FBXO44,FBXO6,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KIAA2013,KIF1B,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIB2,MIIP,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MTHFR,MTOR,MTOR-AS1,MXRA8,NADK,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PARK7,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHN1,PLOD1,PRDM16,PRKCZ,PTCHD2,PUSL1,RBP7,RER1,RERE,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPSB1,SRM,SSU72,TARDBP,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D,VWA1,WASH7P,WRAP73,ZBTB48 chr11 127052052 133951370 Duplication Myelodysplastic syndrome - 21251322 ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,IGSF9B,JAM3,KCNJ1,KCNJ5,LINC00167,LOC100128239,LOC283174,MIR4697,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,TMEM45B,TP53AIP1,ZBTB44 chr1 112707426 112707729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112715149 112715251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 127173057 127173147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127190802 127191283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 112721205 112775947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 127247455 127247555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127247565 127247665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127253106 127258818 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 127254752 127256794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 127267624 127267724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127292525 127292626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 127297994 127298094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127312106 127312138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127314672 127314772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127316068 127316760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 112735803 112736009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112735997 112736180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127394408 133951311 Amplification Acute myeloid leukemia - 21251322 ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,IGSF9B,JAM3,KCNJ1,KCNJ5,LINC00167,LOC100128239,LOC283174,MIR4697,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 127400000 130300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,LINC00167,NFRKB,PRDM10,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 127400000 130300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,LINC00167,NFRKB,PRDM10,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 127400000 130300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,LINC00167,NFRKB,PRDM10,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 127400000 130300000 Gain Breast cancer aCGH 21045282 ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,LINC00167,NFRKB,PRDM10,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 127400000 130300000 Loss Glioblastoma aCGH 21080181 ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,LINC00167,NFRKB,PRDM10,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 127400000 130300000 Loss Glioblastoma multiforme aCGH 21080181 ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,LINC00167,NFRKB,PRDM10,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 127400000 134452384 Loss Glioblastoma multiforme aCGH 21080181 ACAD8,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,GLB1L2,GLB1L3,IGSF9B,JAM3,KCNJ1,KCNJ5,LINC00167,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,THYN1,TMEM45B,TP53AIP1,VPS26B,ZBTB44 chr1 112740383 112803737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112740383 112803737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 127437820 128227400 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr11 127457626 127457658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127478353 127478453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127525578 127921152 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 127525578 127921152 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 127525578 128328976 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ETS1 chr11 127525593 127525693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127548176 127548502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 127550030 128131996 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr1 11275501 11382000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MTOR,UBIAD1 chr11 127564117 127564267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127589490 127591865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 127647353 130996287 Gain Prostate cancer Array CGH 18632612 ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,LINC00167,NFRKB,PRDM10,SNX19,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 127656405 127673384 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 127676090 128202918 Losse Retinoblastoma Array-CGH 19183342 NOT_FOUND chr11 127683540 127683640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127758267 127803291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 127771160 127771260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112778185 112874447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 12779668 12779722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEAD1 chr11 127800000 135006516 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 ACAD8,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,GLB1L2,GLB1L3,IGSF9B,JAM3,KCNJ1,KCNJ5,LINC00167,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,THYN1,TMEM45B,TP53AIP1,VPS26B,ZBTB44 chr11 127800000 135006516 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ACAD8,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,GLB1L2,GLB1L3,IGSF9B,JAM3,KCNJ1,KCNJ5,LINC00167,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,THYN1,TMEM45B,TP53AIP1,VPS26B,ZBTB44 chr11 127810114 127810167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127810163 127822396 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 127816704 127821301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 127819789 127820174 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 127825348 127931093 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 NOT_FOUND chr11 127833869 127962663 Copy number Lung cancer - 20668451 NOT_FOUND chr11 127833869 127962663 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 127833869 127962663 Gain or loss Cancer - 20668451 NOT_FOUND chr11 127833869 127962663 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 127833869 127962663 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 127833869 127962663 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 127833869 127962663 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 127833872 127897371 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 127833874 127948235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 127833874 127948235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 127919018 134449981 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ACAD8,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,GLB1L2,GLB1L3,IGSF9B,JAM3,KCNJ1,KCNJ5,LINC00167,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,THYN1,TMEM45B,TP53AIP1,VPS26B,ZBTB44 chr11 127997748 127997780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 127997850 127997971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1 2800000 Amplification Non-small cell lung cancer Real-time PCR assays 17483357 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Copy number Effusion lymphoma Real-time QPCR 18079361 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Copy number Hepatocellular carcinoma Quantitative real time PCR 18929564 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Gain Breast cancer aCGH 21045282 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Gain Normal Human genome CGH 41k ARRAY PLATFORM 22144094 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Gain Normal Human genome CGH 67k ARRAY PLATFORM 22144094 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Genomic rearrangement Costello syndrome Array-CGH 17164262 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Loss Breast cancer BAC-arrays 17001317 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Loss Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Microdeletions Beckwith-Wiedemann syndrome - 17158821 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Microduplication Beckwith-Wiedemann syndrome MS-MLPA 21920939 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Microduplications Beckwith-Wiedemann syndrome MS-MLPA analysis 21920939 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Microduplications growth disorder MS-MLPA analysis 21920939 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Microduplication Silver-Russell syndrome MS-MLPA 21920939 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 2800000 Microduplications Silver-Russell syndrome MS-MLPA analysis 21920939 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 128001563 128001663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 128037073 128037168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 128069022 128188372 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 128069198 128187521 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 128069198 128187521 Gain or loss Cancer - 20668451 NOT_FOUND chr11 128069198 128187521 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 128069198 128187521 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 128069198 128187521 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 128069198 128187521 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 128069199 128187520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128069199 128187520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128069239 128186093 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 112807913 112807997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 128095271 128129099 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 112810686 112865431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112810686 112865431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128108037 134439182 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACAD8,ADAMTS15,ADAMTS8,APLP2,ARHGAP32,B3GAT1,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,GLB1L2,GLB1L3,IGSF9B,JAM3,KCNJ1,KCNJ5,LINC00167,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NFRKB,NTM,OPCML,PRDM10,SNX19,SPATA19,ST14,THYN1,TMEM45B,TP53AIP1,VPS26B,ZBTB44 chr1 112811562 112865428 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 112811562 112865428 Gain or loss Cancer - 20668451 NOT_FOUND chr1 112811562 112865428 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 112811562 112865428 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 112811562 112865428 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 112811562 112865428 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 128121474 128121574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112813037 112813136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 128168080 128168180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 128182285 128201577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 128187560 128188668 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 128187927 128188619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 128187933 128188593 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 128213125 128242478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128213125 128242478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 128213125 128242478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128252353 131612360 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ADAMTS15,ADAMTS8,APLP2,ARHGAP32,BARX2,C11orf45,ETS1,FLI1,FLI1-AS1,KCNJ1,KCNJ5,LINC00167,NFRKB,NTM,PRDM10,SNX19,ST14,TMEM45B,TP53AIP1,ZBTB44 chr11 128266523 128293159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128266523 128293159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 128266523 128293159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128274671 128280802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 128274678 128280802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128274678 128280802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128310482 128318032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128310482 128318032 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 128310482 128318032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 128335707 128335807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETS1 chr11 128343052 128519665 Gain and loss Pancreatic cancer SNP array 17952125 ETS1 chr11 128343052 128567303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ETS1,FLI1,FLI1-AS1 chr11 128343052 128567303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETS1,FLI1,FLI1-AS1 chr11 128368342 128368445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETS1 chr11 128368346 128368445 Gain and loss Pancreatic cancer SNP array 17952125 ETS1 chr11 128399610 128399658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETS1 chr11 128405564 128405675 Gain and loss Pancreatic cancer SNP array 17952125 ETS1 chr11 128405564 128405677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETS1 chr1 112842431 112842531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 128502689 128510602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 128518726 128520462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 128562030 128562125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLI1,FLI1-AS1 chr11 128578071 128578152 Gain and loss Pancreatic cancer SNP array 17952125 FLI1 chr11 128578071 128578175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLI1 chr11 128578071 128578178 Gain and loss Pancreatic cancer SNP array 17952125 FLI1 chr1 112858804 113623005 LOH Normal High-resolution SNP genotyping 21211785 AKR7A2P1,CAPZA1,CTTNBP2NL,FAM19A3,LRIG2,MIR4256,MOV10,PPM1J,RHOC,SLC16A1,ST7L,WNT2B chr11 128601457 128601551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLI1 chr11 128611827 128612216 Gain and loss Pancreatic cancer SNP array 17952125 FLI1 chr11 128634884 128634954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLI1 chr11 128665009 128665093 Gain and loss Pancreatic cancer SNP array 17952125 FLI1 chr11 128665009 128665093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLI1 chr11 128670363 128670584 Gain and loss Pancreatic cancer SNP array 17952125 FLI1 chr11 128670363 128670584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLI1 chr1 112867666 112963563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTTNBP2NL chr1 112867666 112963563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTTNBP2NL chr1 112869177 113231408 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CAPZA1,CTTNBP2NL,MIR4256,MOV10,ST7L,WNT2B chr1 112869177 116453414 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AKR7A2P1,AMPD1,AP4B1,AP4B1-AS1,BCAS2,BCL2L15,CAPZA1,CASQ2,CSDE1,CTTNBP2NL,DCLRE1B,DENND2C,FAM19A3,HIPK1,LOC643441,LRIG2,MAGI3,MIR4256,MOV10,NGF,NHLH2,NRAS,OLFML3,PHTF1,PPM1J,PTPN22,RHOC,RSBN1,SIKE1,SLC16A1,ST7L,SYCP1,SYT6,TRIM33,TSHB,TSPAN2,VANGL1,WNT2B chr11 128716532 128716616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ1 chr1 112873825 112926276 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 128751045 128827025 Gain and loss Pancreatic cancer SNP array 17952125 C11orf45,KCNJ5,TP53AIP1 chr11 128751091 128827384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf45,KCNJ5,TP53AIP1 chr11 128751091 128827384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf45,KCNJ5,TP53AIP1 chr1 1128752 1131952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTLL10 chr1 1128752 1131952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTLL10 chr11 128771781 128771861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf45,KCNJ5 chr11 128796979 128820722 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TP53AIP1 chr11 12882940 12883069 Gain and loss Pancreatic cancer SNP array 17952125 TEAD1 chr11 12882940 12883111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEAD1 chr11 12882940 12883116 Gain and loss Pancreatic cancer SNP array 17952125 TEAD1 chr11 128886904 128931690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP32 chr1 112889386 112889447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 128927221 128927321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP32 chr11 128936156 128936237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP32 chr11 128997364 128997464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP32 chr11 12900309 12900585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TEAD1 chr11 129034292 129168247 Gain Normal Birdsuite, version 1.5.2 22087296 ARHGAP32 chr1 112907252 112907350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129121212 129154600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 129190950 129235108 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 129190951 129235108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129190951 129235108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129190951 129235108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129191042 129191128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 129218021 130038014 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 APLP2,BARX2,LINC00167,NFRKB,PRDM10,ST14,TMEM45B chr11 129238886 129270646 Gain and loss Pancreatic cancer SNP array 17952125 BARX2 chr11 129238888 129267993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BARX2 chr11 129238888 129267993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BARX2 chr11 129253343 129253517 Loss Autism 1M Ailent CGH whole-genome array 21865298 BARX2 chr11 129274815 129377940 Gain and loss Pancreatic cancer SNP array 17952125 BARX2 chr11 129274817 129377940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BARX2 chr11 129274817 129377940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BARX2 chr1 112929085 112955399 Gain and loss Pancreatic cancer SNP array 17952125 CTTNBP2NL chr11 129317429 129317529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BARX2 chr11 129333601 129864900 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFRKB,PRDM10,TMEM45B chr11 129373112 129373207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 129378159 129378602 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129407969 129408325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129410481 129410606 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 129445011 129519910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129445011 129519910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129445011 129519910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129447863 129447941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 129457313 129457577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129457313 129479614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129458599 129458699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 129460197 129460553 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129474432 129635215 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 129480011 129512609 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 129489286 129489440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129489308 129489440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129489367 129489440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129534892 129585466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129534892 129585466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129534933 129585466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129537862 129847927 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NFRKB,PRDM10,TMEM45B chr11 129548849 129548910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 112955797 112961791 Gain and loss Pancreatic cancer SNP array 17952125 CTTNBP2NL chr11 129597423 129689817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM45B chr11 129597423 129689817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM45B chr11 129601789 129689717 Gain and loss Pancreatic cancer SNP array 17952125 TMEM45B chr11 129602921 129624529 Loss Normal 244K array 17666407 NOT_FOUND chr1 112963306 113015764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTTNBP2NL,MIR4256,WNT2B chr1 112964665 112969955 Gain and loss Pancreatic cancer SNP array 17952125 CTTNBP2NL chr11 129679745 129679819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129679745 129679819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129685285 129685579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 129685285 129685581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129685285 129685581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11296895 11700048 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 MTOR,PTCHD2,UBIAD1 chr11 129689629 129778343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFRKB,PRDM10,TMEM45B chr11 129689629 129778343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFRKB,PRDM10,TMEM45B chr1 112970075 112970370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTTNBP2NL chr11 129725940 129726040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM45B chr11 129730819 129735544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFRKB chr11 129748021 129748086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFRKB chr1 112975241 112981896 Gain and loss Pancreatic cancer SNP array 17952125 CTTNBP2NL chr11 129759356 129759553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFRKB chr11 129768601 129777111 Gain and loss Pancreatic cancer SNP array 17952125 PRDM10 chr11 129780030 129803749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRDM10 chr11 129780030 129803749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDM10 chr11 129780406 129804098 Gain and loss Pancreatic cancer SNP array 17952125 PRDM10 chr11 129785723 129821890 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRDM10 chr11 129793282 129793384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRDM10 chr11 129801193 129835353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRDM10 chr11 129804239 129804325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM10 chr11 129806565 129806630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRDM10 chr11 129824079 129848926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRDM10 chr11 129824079 129848926 Gain and loss Pancreatic cancer SNP array 17952125 PRDM10 chr11 129824079 129848926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDM10 chr11 129864901 132900900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTS15,ADAMTS8,APLP2,LINC00167,NTM,OPCML,PRDM10,SNX19,ST14,ZBTB44 chr1 112987422 113369070 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CAPZA1,CTTNBP2NL,FAM19A3,MIR4256,MOV10,PPM1J,RHOC,ST7L,WNT2B chr11 12987595 12989223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 12987700 12989196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 12987700 12989196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112991792 112992011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTTNBP2NL chr1 112991895 112992001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTTNBP2NL chr1 112991991 112992232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTTNBP2NL chr11 129921901 129922532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 129921901 129922532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 112996733 112996831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTTNBP2NL chr11 129996857 129996957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APLP2 chr11 130001608 130001852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APLP2 chr11 130002367 130002467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APLP2 chr1 113002759 113003139 Gain and loss Pancreatic cancer SNP array 17952125 CTTNBP2NL chr11 130048061 130092457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST14 chr11 130048061 130092457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST14 chr11 130048084 130089302 Gain and loss Pancreatic cancer SNP array 17952125 ST14 chr11 130052428 130052520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST14 chr11 130105149 130106642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZBTB44 chr1 113018632 113044884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT2B chr1 113018632 113044884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT2B chr11 130203720 130248674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 130208267 130208367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130250975 130291592 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ADAMTS8 chr11 130250977 130291592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS8 chr11 130250977 130291592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS8 chr11 130250985 130291572 Deletion T-cell lymphomas Array-CGH 22341440 ADAMTS8 chr11 130250985 130291572 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS8 chr11 130275319 130286880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADAMTS8 chr11 130280899 134452384 Deletion Cancer Affymetrix 250K Sty array 20164920 ACAD8,ADAMTS15,ADAMTS8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SNX19,SPATA19,THYN1,VPS26B chr11 130300000 134452384 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAD8,ADAMTS15,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SNX19,SPATA19,THYN1,VPS26B chr11 130300000 134452384 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAD8,ADAMTS15,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SNX19,SPATA19,THYN1,VPS26B chr11 130300000 134452384 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ACAD8,ADAMTS15,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SNX19,SPATA19,THYN1,VPS26B chr11 130300000 134452384 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAD8,ADAMTS15,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SNX19,SPATA19,THYN1,VPS26B chr11 130300000 134452384 Duplication laryngomalacia FISH 21936942 ACAD8,ADAMTS15,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SNX19,SPATA19,THYN1,VPS26B chr11 130300000 134452384 Loss Cervical cancer Array CGH 21063398 ACAD8,ADAMTS15,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SNX19,SPATA19,THYN1,VPS26B chr11 130300000 134452384 Loss Myxofibrosarcoma Array CGH 16751306 ACAD8,ADAMTS15,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SNX19,SPATA19,THYN1,VPS26B chr11 13035357 13035495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130379235 130379534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 130379236 130379534 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 130379236 130379534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 113038001 113068500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ST7L,WNT2B chr11 130398714 130398808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130425269 130427289 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 130430252 130430339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130447545 130447638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113045251 113051548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT2B chr1 113045251 113051548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT2B chr1 113045271 113051548 Gain or loss Breast cancer - 20668451 WNT2B chr1 113045271 113051548 Gain or loss Cancer - 20668451 WNT2B chr1 113045271 113051548 Gain or loss Lung cancer - 20668451 WNT2B chr1 113045271 113051548 Gain or loss Ovarian cancer - 20668451 WNT2B chr1 113045271 113051548 Gain or loss Pancreas cancer - 20668451 WNT2B chr1 113045271 113051548 Gain or loss Prostate cancer - 20668451 WNT2B chr11 130455281 130455381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130477970 130478055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130483070 130489555 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 130483416 130484613 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 130484613 130489555 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 130487040 130487120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 130493581 130493624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113050884 113050924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNT2B chr1 113054138 113059473 Gain or loss Breast cancer - 20668451 WNT2B chr1 113054138 113059473 Gain or loss Cancer - 20668451 WNT2B chr1 113054138 113059473 Gain or loss Lung cancer - 20668451 WNT2B chr1 113054138 113059473 Gain or loss Ovarian cancer - 20668451 WNT2B chr1 113054138 113059473 Gain or loss Pancreas cancer - 20668451 WNT2B chr1 113054138 113059473 Gain or loss Prostate cancer - 20668451 WNT2B chr1 113054139 113059473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT2B chr1 113054139 113059473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT2B chr11 130572369 130572469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130615965 132678521 Loss Bladder cancer array-CGH 21909424 NTM,OPCML,SNX19 chr11 130640244 130640250 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr1 113064712 113071377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST7L chr1 113064712 113071377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST7L chr11 130675691 130675899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130675798 130675916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130694717 130694802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 130745912 131711926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTM,SNX19 chr11 130745912 131711926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTM,SNX19 chr11 130760354 130760450 Gain and loss Pancreatic cancer SNP array 17952125 SNX19 chr11 130760354 130760450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX19 chr11 130800000 135006516 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SPATA19,THYN1,VPS26B chr11 130800000 135006516 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SPATA19,THYN1,VPS26B chr11 130800000 135006516 Gain or loss Esophageal squamous carcinoma Array CGH 17470683 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SPATA19,THYN1,VPS26B chr11 130800000 135006516 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SPATA19,THYN1,VPS26B chr11 130800000 135006516 Loss Breast cancer Microarray-based CGH 17133270 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SPATA19,THYN1,VPS26B chr11 130800000 135006516 Loss Cervical cancer array CGH and SNP array 17311676 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SPATA19,THYN1,VPS26B chr11 130800000 135006516 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SPATA19,THYN1,VPS26B chr11 130800837 130800937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 13083327 13083427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 13086041 14549688 LOH Normal High-resolution SNP genotyping 21211785 ARNTL,BTBD10,COPB1,FAR1,PSMA1,PTH,RRAS2,SPON1 chr11 13092188 13092298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113092240 113092620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST7L chr1 113092240 113092620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST7L chr11 130928967 130929067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113093729 113093788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST7L chr11 130938011 131254195 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NTM chr11 130963534 130963566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 131006319 131006408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 131006389 131254195 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NTM chr11 131007768 131008072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 131014012 131014112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 131014106 131817517 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NTM chr11 131035347 131035769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 131040880 131070144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 113104477 113104986 Gain and loss Pancreatic cancer SNP array 17952125 ST7L chr11 131050278 131075057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 131056289 131056373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11310690 11310744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTOR chr1 113108903 113109487 Gain and loss Pancreatic cancer SNP array 17952125 ST7L chr11 131101435 131102378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 131159857 131261275 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NTM chr11 131164517 131164738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 131200086 131817517 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NTM chr11 131247810 131274664 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NTM chr11 131285921 131711926 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NTM chr11 131285922 131711926 Deletion T-cell lymphomas Array-CGH 22341440 NTM chr11 131286586 131710250 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NTM chr11 131286586 131710250 Gain and loss Pancreatic cancer SNP array 17952125 NTM chr11 13128754 13128854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 131300617 131300717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131302382 131302482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131328067 131328167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131353598 131353634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 1 3137660 Deletion Normal Standard GISTIC 21527027 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,ODF3,OSBPL5,PDDC1,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 131426210 131434196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NTM chr11 131457549 131545566 Gain Lung cancer Array CGH 21203850 NTM chr11 131500485 131500603 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NTM chr11 131538032 131538132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131556706 131601157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NTM chr11 131561339 131561419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131586860 131711926 Amplification Intellectual disability 100k SNP Array 21811512 NTM chr11 131588823 131589136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTM chr11 13159751 13159840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113164319 113194788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPZA1 chr1 113164319 113194788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPZA1 chr11 131665525 131665625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr1 113166896 113210847 Gain and loss Pancreatic cancer SNP array 17952125 CAPZA1 chr11 131682530 131728895 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NTM chr11 131753138 131753211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131775379 131775411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr1 113178014 113179337 Gain and loss Pancreatic cancer SNP array 17952125 CAPZA1 chr11 131790085 132907429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTM,OPCML chr11 131790085 132907429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTM,OPCML chr11 131790088 132318197 Gain and loss Pancreatic cancer SNP array 17952125 NTM,OPCML chr11 131793292 132318247 Deletion T-cell lymphomas Array-CGH 22341440 NTM,OPCML chr11 13182721 13183721 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr11 131832047 131832147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131843814 131843904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 13184856 13185856 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr11 131873839 131873892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTM chr11 131884345 131884445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131909266 131909329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 131995515 131995570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 13199803 13201151 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 113202899 113252057 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CAPZA1,MOV10,RHOC chr11 132063794 132064082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTM chr11 132063796 132064084 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTM chr11 1 3206404 Deletion Normal Arbitrated Peel-off 21527027 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,ODF3,OSBPL5,PDDC1,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 3206404 Deletion Normal GeneGISTIC 21527027 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,ODF3,OSBPL5,PDDC1,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 3206404 Deletion Normal Standard peel-off 21527027 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,ODF3,OSBPL5,PDDC1,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 1 3213100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,ODF3,OSBPL5,PDDC1,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 132137870 132137953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 132157011 132157080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 132184475 132184559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTM chr11 132200000 134452384 Deletion abnormal development HR-CGH, Array-CGH 18461090 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,NTM,OPCML,SPATA19,THYN1,VPS26B chr11 132225088 132225188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 132277013 132277113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1322914 1322967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TOLLIP chr11 132304532 132330165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPCML chr11 132304651 132304750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132328046 132771541 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 OPCML chr1 113234912 113235067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOV10 chr11 132361911 132362006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132387740 132387811 Gain and loss Pancreatic cancer SNP array 17952125 OPCML chr11 132401027 132401098 Gain and loss Pancreatic cancer SNP array 17952125 OPCML chr11 1 32410000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 ABCC8,ADM,AKIP1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,CALCA,CALCB,CARS,CCDC34,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COPB1,CSNK2A1P,CSRP3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EIF3F,EIF4G2,ELP4,EPS8L2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FIBIN,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LGR4,LIN7C,LMO1,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PARVA,PAX6,PDDC1,PDE3B,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 13242047 13242236 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 13242047 13242236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 132429056 132429113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132473013 132473078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr1 1132501 1161000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDF4,TNFRSF18,TNFRSF4,TTLL10 chr11 132512741 132512841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132518807 132864395 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 OPCML chr11 13255901 13365389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARNTL chr11 13255901 13365389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNTL chr11 13255926 13365386 Gain and loss Pancreatic cancer SNP array 17952125 ARNTL chr1 113255992 113300498 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FAM19A3,PPM1J chr1 113255997 113300498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A3,PPM1J chr1 113255997 113300498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A3,PPM1J chr11 132565737 132565819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr1 1132583 1133003 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTLL10 chr11 132601535 132632556 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 OPCML chr11 132626207 132808152 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 OPCML chr11 132664318 132664418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr1 113267568 113268489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A3 chr1 113267568 113268489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A3 chr11 132685500 132685599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132790078 132790220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132803817 132907666 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OPCML chr11 132812045 132812143 Gain and loss Pancreatic cancer SNP array 17952125 OPCML chr11 132812045 132812143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPCML chr11 132824672 132828108 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OPCML chr11 13282910 13283010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1328501 1332000 Deletion Glioma mate-paired sequence 20126413 LOC255512,TOLLIP chr11 132852444 132852589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132854966 132855066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132900901 134452384 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,OPCML,SPATA19,THYN1,VPS26B chr11 13292793 13292836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 132940308 133049386 Copy number Lung cancer paired-end sequencing 18438408 OPCML chr11 132965012 132965112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 132972384 133254374 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 OPCML chr11 132989749 132989781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr1 113299486 113299586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113299763 113313396 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr11 13304336 13304411 Gain and loss Pancreatic cancer SNP array 17952125 ARNTL chr11 13304336 13304411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNTL chr11 133046518 133060513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPCML chr11 133055526 133055626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 133063841 134452384 Copy number Lung cancer paired-end sequencing 18438408 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,OPCML,SPATA19,THYN1,VPS26B chr11 133071741 133105851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPCML chr11 133081860 133081955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 133140608 133219882 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OPCML chr11 133215727 133220602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OPCML chr11 133215727 133220602 Deletion T-cell lymphomas Array-CGH 22341440 OPCML chr11 133215727 133220602 Gain and loss Pancreatic cancer SNP array 17952125 OPCML chr11 133215727 133220602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPCML chr11 133239851 133240749 Gain and loss Pancreatic cancer SNP array 17952125 OPCML chr11 133239851 133240749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPCML chr1 113327873 113379384 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 133290395 133332090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OPCML chr11 133290395 133332090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPCML chr11 133290396 133313205 Deletion T-cell lymphomas Array-CGH 22341440 OPCML chr11 133290396 133313205 Gain and loss Pancreatic cancer SNP array 17952125 OPCML chr11 133291501 133313500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OPCML chr1 113330798 113334253 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 13331331 13331588 Gain and loss Pancreatic cancer SNP array 17952125 ARNTL chr11 13331331 13331649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNTL chr11 13331331 13331659 Gain and loss Pancreatic cancer SNP array 17952125 ARNTL chr11 133313501 133318500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OPCML chr11 133318501 133333000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OPCML chr11 133338041 133338126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPCML chr11 13334888 13334988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARNTL chr11 133364903 133396244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPCML chr11 133367262 133662626 Loss Urothelial carcinoma array CGH validated by FISH 21177765 OPCML chr11 133407377 133416446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133407377 133416446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133421167 133421256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 133444030 133526846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133444030 133526846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133444030 133526861 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 133444030 133526861 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 133461668 134449982 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283174,LOC283177,MIR4697,NCAPD3,SPATA19,THYN1,VPS26B chr11 133527547 133599636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133527547 133599636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133527551 133599058 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 133527551 133599058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 133599771 133620834 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 133599771 133622894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133599771 133622894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133599784 133620836 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 133622269 133622353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 133623383 133628474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133623383 133628474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133623385 133628470 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 133623388 133628470 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 133628617 133640954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 133628617 133640959 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 133628644 133640954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133628644 133640954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133650674 133694668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133650674 133694668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 133651485 133680411 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 133651485 133680412 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 133655739 133716072 Gain Normal Birdsuite, version 1.5.2 22087296 SPATA19 chr11 133655762 133720457 Copy number loss Normal High-resolution SNP genotyping 21211785 SPATA19 chr11 13366134 13441414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARNTL,BTBD10 chr11 13366134 13441414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNTL,BTBD10 chr11 13366137 13441407 Gain and loss Pancreatic cancer SNP array 17952125 ARNTL,BTBD10 chr1 113368430 114750292 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKR7A2P1,AP4B1,AP4B1-AS1,BCL2L15,DCLRE1B,HIPK1,LOC643441,LRIG2,MAGI3,OLFML3,PHTF1,PTPN22,RSBN1,SLC16A1,SYT6 chr11 133684786 133694667 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 133688137 133688206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 133698952 133730902 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 SPATA19 chr11 133704030 133704069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 133707016 133751055 Gain and loss Pancreatic cancer SNP array 17952125 SPATA19 chr11 133707016 133751428 Deletion T-cell lymphomas Array-CGH 22341440 SPATA19 chr11 133707016 133787552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGSF9B,LOC283174,MIR4697,SPATA19 chr11 133707016 133787552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF9B,LOC283174,MIR4697,SPATA19 chr11 133713735 133714118 Gain and loss Pancreatic cancer SNP array 17952125 SPATA19 chr11 133728651 133755602 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 133753607 133787022 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 IGSF9B,LOC283174,MIR4697 chr11 133753607 133787022 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 IGSF9B,LOC283174,MIR4697 chr11 133753607 133787022 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 IGSF9B,LOC283174,MIR4697 chr11 133753610 133787022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGSF9B,LOC283174,MIR4697 chr11 133753610 133787022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF9B,LOC283174,MIR4697 chr11 133753612 133787022 Deletion T-cell lymphomas Array-CGH 22341440 IGSF9B,LOC283174,MIR4697 chr11 133753612 133787022 Gain and loss Pancreatic cancer SNP array 17952125 IGSF9B,LOC283174,MIR4697 chr11 133777473 133777573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 133786141 134449982 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ACAD8,B3GAT1,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,LOC283177,NCAPD3,THYN1,VPS26B chr11 133797141 133894154 Gain Stenocardia MACArray Karyo 60K BAC-chips 21860640 IGSF9B chr11 133797141 133894154 Gain Vasospasm MACArray Karyo 60K BAC-chips 21860640 IGSF9B chr11 133824928 134224766 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,IGSF9B,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133825858 133825943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF9B chr11 133835664 134452384 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-663K arrays 21546498 ACAD8,B3GAT1,GLB1L2,GLB1L3,JAM3,LOC100128239,LOC283177,NCAPD3,THYN1,VPS26B chr11 133844903 134224766 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133848766 134244483 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133853131 134224766 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133853131 134224766 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133853131 134235880 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133853131 134244483 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133853184 134224766 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133853184 134244483 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133854125 134224766 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133854964 134224766 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133854964 134224766 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACAD8,GLB1L2,GLB1L3,JAM3,LOC100128239,NCAPD3,THYN1,VPS26B chr11 133864554 133864784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 113388739 114043773 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AKR7A2P1,LOC643441,LRIG2,MAGI3,SLC16A1 chr11 133897286 133897403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 133898554 133898925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 13389872 13389957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARNTL chr11 133936991 133937045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 133951066 133951126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 JAM3 chr11 133971866 134439182 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACAD8,B3GAT1,GLB1L2,GLB1L3,JAM3,LOC283177,NCAPD3,THYN1,VPS26B chr11 133982801 134106989 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 JAM3,NCAPD3,VPS26B chr11 134021368 134021463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JAM3 chr11 134029659 134106989 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NCAPD3,VPS26B chr11 134034292 134034392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAPD3 chr11 134037610 134086101 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NCAPD3 chr11 134039453 134039626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCAPD3 chr11 134060736 134367660 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ACAD8,B3GAT1,GLB1L2,GLB1L3,LOC283177,NCAPD3,THYN1,VPS26B chr11 134105213 134112763 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 VPS26B chr11 134105213 134112763 Total allelic loss Normal High-resolution SNP genotyping 21211785 VPS26B chr11 134105347 134113585 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS26B chr11 134107133 134112853 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 VPS26B chr11 134107188 134112876 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 VPS26B chr11 134107189 134112871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VPS26B chr11 134107759 134112063 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 VPS26B chr11 134107819 134114857 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 VPS26B chr11 134107819 134114857 Total allelic loss Normal High-resolution SNP genotyping 21211785 VPS26B chr11 134108809 134112837 Loss or gain Normal 244K array 17666407 VPS26B chr1 113411001 113417300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 134110199 134170911 Gain and loss Pancreatic cancer SNP array 17952125 ACAD8,GLB1L3,THYN1,VPS26B chr11 134110296 134111051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VPS26B chr11 134110302 134111021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VPS26B chr11 134110677 134111114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS26B chr11 134111001 134113000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VPS26B chr11 134115140 134137033 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACAD8,THYN1,VPS26B chr11 134119190 134132097 Gain Normal Birdsuite, version 1.5.2 22087296 ACAD8,THYN1 chr11 134122427 134157753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACAD8,GLB1L3,THYN1 chr1 113412846 113415300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 134129099 134280055 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACAD8,B3GAT1,GLB1L2,GLB1L3 chr11 134135019 134135019 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ACAD8 chr11 1341557 1478016 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 BRSK2 chr1 113417354 113468865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKR7A2P1,SLC16A1 chr1 113417354 113468865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR7A2P1,SLC16A1 chr11 134207001 134240425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLB1L2 chr11 134214512 134215416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GLB1L2 chr1 113423625 113424067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 134238109 134239322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GLB1L2 chr11 134238116 134239296 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GLB1L2 chr11 134305542 134305622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 134305648 134305896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 134305653 134305788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 134325488 134449982 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC283177 chr11 134327223 134339349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC283177 chr11 134330961 134449982 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC283177 chr11 134334779 134334873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283177 chr1 113434235 113491596 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AKR7A2P1,SLC16A1 chr11 134343946 134344041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283177 chr11 134349020 134393784 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC283177 chr11 134349020 134449982 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC283177 chr11 134352738 134449982 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC283177 chr11 134368851 134368951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283177 chr11 134379543 134379643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 134404736 134404817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 134414510 134418045 Gain or loss Normal aCGH 21627829 NOT_FOUND chr11 13441564 13442833 Gain and loss Pancreatic cancer SNP array 17952125 BTBD10 chr11 134421940 134422194 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 113443631 113488647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AKR7A2P1,SLC16A1 chr11 13451340 14353061 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BTBD10,FAR1,PTH,RRAS2,SPON1 chr11 134549647 134452384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr11 134597926 134452384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr11 134659388 134452384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr11 134659545 134452384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 113469722 113471028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC16A1 chr11 13470178 13474143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD10 chr11 13470178 13474143 Gain and loss Pancreatic cancer SNP array 17952125 BTBD10 chr11 13470178 13474143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD10 chr11 134866823 134452384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr11 134929045 134452384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr11 134953001 134452384 Deletion Glioma mate-paired sequence 20126413 chr1 113498740 113498840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC16A1 chr1 113510420 113750131 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC643441,LRIG2 chr1 113513139 113513548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 13517122 13517222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTH chr11 13521101 13524700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 13522499 13522852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 11352553 11352653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 135374737 Loss Chordoma Array CGH 21602918 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 13539835 13584509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 113542970 113543403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 113548403 114249368 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1 chr1 113551125 113553182 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 11356111 11356160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113561419 113561489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113565925 113566025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113588992 114257377 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1 chr11 13596227 13596315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 13596227 13596333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 113598574 114257377 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1 chr1 113598574 114324582 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1,RSBN1 chr11 13599519 13599610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113601152 113601610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 113611197 113611327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113621694 114310199 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1,RSBN1 chr1 113621694 114428132 LOH Normal High-resolution SNP genotyping 21211785 AP4B1-AS1,BCL2L15,LOC643441,LRIG2,MAGI3,PHTF1,PTPN22,RSBN1 chr11 13638172 13638223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1 36400000 Deletion Medulloblastoma SNP arrays 21979893 ABCC8,ABTB2,ADM,AKIP1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,APIP,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,C11orf91,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR1343,MIR210,MIR210HG,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,QSER1,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 36400000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCC8,ABTB2,ADM,AKIP1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,APIP,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,C11orf91,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR1343,MIR210,MIR210HG,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,QSER1,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr1 113641317 114251267 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1 chr1 113645698 113940534 Gain and loss Pancreatic cancer SNP array 17952125 LOC643441,LRIG2,MAGI3 chr11 13646834 13710467 Gain and loss Pancreatic cancer SNP array 17952125 FAR1 chr11 13646840 13710467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAR1 chr11 13646840 13710467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAR1 chr1 113647440 114314966 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1,RSBN1 chr1 1136568 1139375 Amplification Lung cancer Bayesian Detection of Shared Aberrations for aCGH 21512611 TNFRSF18 chr1 1136583 1139411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF18 chr1 1136583 1139411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF18 chr11 1366001 1466000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRSK2 chr1 113662945 114326976 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1,RSBN1 chr1 113662945 114327699 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,LRIG2,MAGI3,PHTF1,RSBN1 chr11 13664673 13664781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 13664674 13664780 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 13664675 13664781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 113668159 114223165 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,MAGI3 chr1 113668159 114224479 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,MAGI3 chr11 1367705 1439902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRSK2 chr11 1367705 1439902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRSK2 chr11 1367707 1439520 Gain and loss Pancreatic cancer SNP array 17952125 BRSK2 chr11 13714213 13988289 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAR1,SPON1 chr1 113720423 114416382 LOH Normal High-resolution SNP genotyping 21211785 AP4B1-AS1,LOC643441,MAGI3,PHTF1,PTPN22,RSBN1 chr1 113722363 114331679 LOH Normal High-resolution SNP genotyping 21211785 LOC643441,MAGI3,PHTF1,RSBN1 chr11 13728365 13728465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAR1 chr1 113734887 113735415 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 113734894 114030068 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC643441,MAGI3 chr1 113734997 114030068 Copy number Lung cancer - 20668451 LOC643441,MAGI3 chr1 113734997 114030068 Gain or loss Breast cancer - 20668451 LOC643441,MAGI3 chr1 113734997 114030068 Gain or loss Cancer - 20668451 LOC643441,MAGI3 chr1 113734997 114030068 Gain or loss Lung cancer - 20668451 LOC643441,MAGI3 chr1 113734997 114030068 Gain or loss Ovarian cancer - 20668451 LOC643441,MAGI3 chr1 113734997 114030068 Gain or loss Pancreas cancer - 20668451 LOC643441,MAGI3 chr1 113734997 114030068 Gain or loss Prostate cancer - 20668451 LOC643441,MAGI3 chr1 113734998 114030068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC643441,MAGI3 chr1 113734998 114030068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643441,MAGI3 chr1 113794088 113794875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 13810182 13810282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 13812811 13813036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 13812882 13812982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 13813022 13813165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113839501 113849000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 113841351 113847400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 113850001 114178900 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAGI3 chr11 13885595 13885713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 13885608 13885709 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 13885624 13885712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1138887 1142089 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 TNFRSF18 chr11 1389762 1390229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 113902673 114772618 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AP4B1,AP4B1-AS1,BCL2L15,DCLRE1B,HIPK1,MAGI3,OLFML3,PHTF1,PTPN22,RSBN1,SYT6 chr1 113920902 113921044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 113925402 113929380 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 13927181 15214165 LOH Normal High-resolution SNP genotyping 21211785 CALCA,CALCB,COPB1,CYP2R1,INSC,PDE3B,PSMA1,RRAS2,SPON1 chr11 13940814 14245926 Gain and loss Pancreatic cancer SNP array 17952125 SPON1 chr11 13941028 14246222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPON1 chr11 13941028 14246222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPON1 chr11 13944791 13944879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 113951879 114014140 Gain and loss Pancreatic cancer SNP array 17952125 MAGI3 chr11 13954179 14902120 LOH Normal High-resolution SNP genotyping 21211785 COPB1,CYP2R1,PDE3B,PSMA1,RRAS2,SPON1 chr11 13955600 14902120 LOH Normal High-resolution SNP genotyping 21211785 COPB1,CYP2R1,PDE3B,PSMA1,RRAS2,SPON1 chr11 13989291 13989375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPON1 chr1 114003500 114126376 Gain and loss Pancreatic cancer SNP array 17952125 MAGI3 chr1 114019295 114067112 Gain and loss Pancreatic cancer SNP array 17952125 MAGI3 chr1 114036377 114103621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr1 114036377 114103621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr1 114043029 114043776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr1 11404988 11405058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1405813 1426296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRSK2 chr11 1 4068254 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ANO9,AP2A2,ART1,ART5,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC143666,LOC255512,LOC338651,LOC650368,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR4687,MIR483,MIR675,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,NUP98,ODF3,OR7E12P,OSBPL5,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RHOG,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,STIM1,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,ZNF195 chr11 1407349 1410887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 11407902 11408478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114087180 115164268 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AP4B1,AP4B1-AS1,BCAS2,BCL2L15,DCLRE1B,DENND2C,HIPK1,MAGI3,OLFML3,PHTF1,PTPN22,RSBN1,SYT6,TRIM33 chr11 1410477 1410550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 114105331 114260861 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 MAGI3,PHTF1 chr1 114105977 114156593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr1 114105977 114156593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr1 114108389 114108834 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MAGI3 chr11 14113108 14113204 Gain and loss Pancreatic cancer SNP array 17952125 SPON1 chr11 14113108 14113227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPON1 chr1 11411463 11411548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 114136428 114142018 Gain and loss Pancreatic cancer SNP array 17952125 MAGI3 chr1 114149720 114159734 Gain and loss Pancreatic cancer SNP array 17952125 MAGI3 chr1 114157963 114215857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr1 114157963 114215857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr1 114160080 114168734 Gain and loss Pancreatic cancer SNP array 17952125 MAGI3 chr11 14160530 14160630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPON1 chr11 14163783 14163883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPON1 chr1 11416501 11516500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 1417857 1417957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRSK2 chr1 114178901 114305400 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAGI3,PHTF1,RSBN1 chr11 14183576 19267810 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABCC8,C11orf58,CALCA,CALCB,COPB1,CSRP3,CYP2R1,E2F8,GTF2H1,HPS5,IGSF22,INSC,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC494141,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NCR3LG1,NUCB2,OR7E14P,PDE3B,PIK3C2A,PLEKHA7,PSMA1,PTPN5,RPS13,RRAS2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr1 114184038 114232464 Gain and loss Pancreatic cancer SNP array 17952125 MAGI3 chr1 114203267 114321949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAGI3,PHTF1,RSBN1 chr1 114203267 114321949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI3,PHTF1,RSBN1 chr1 1142177 1157274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDF4,TNFRSF4 chr1 1142177 1157274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDF4,TNFRSF4 chr1 114220962 114231726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr1 114220962 114231726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI3 chr11 14225736 14225836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPON1 chr1 114234072 114236917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 114238893 114249346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHTF1 chr1 114238893 114249346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHTF1 chr1 114238969 114352508 Amplification or deletion Cancer Array CGH 17440070 PHTF1,RSBN1 chr1 1142407 1142501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 114245635 114247761 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PHTF1 chr11 1424743 1424799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRSK2 chr1 114249561 114258215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHTF1 chr1 114249561 114258215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHTF1 chr11 1425546 1425625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRSK2 chr11 14256041 14337305 Gain or loss Breast cancer - 20668451 RRAS2,SPON1 chr11 14256041 14337305 Gain or loss Cancer - 20668451 RRAS2,SPON1 chr11 14256041 14337305 Gain or loss Lung cancer - 20668451 RRAS2,SPON1 chr11 14256041 14337305 Gain or loss Ovarian cancer - 20668451 RRAS2,SPON1 chr11 14256041 14337305 Gain or loss Pancreas cancer - 20668451 RRAS2,SPON1 chr11 14256041 14337305 Gain or loss Prostate cancer - 20668451 RRAS2,SPON1 chr11 14256042 14337305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RRAS2,SPON1 chr11 14256042 14337305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRAS2,SPON1 chr11 14257459 14336992 Gain and loss Pancreatic cancer SNP array 17952125 RRAS2,SPON1 chr11 14293822 14293965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 142999 143101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 142999 143102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 14304887 14305202 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RRAS2 chr1 114305401 114710200 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP4B1,AP4B1-AS1,BCL2L15,DCLRE1B,HIPK1,OLFML3,PTPN22,RSBN1,SYT6 chr1 1143166 1143255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 114323553 114326399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSBN1 chr1 114323553 114326399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSBN1 chr11 14331925 14332025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRAS2 chr1 114338791 114338891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSBN1 chr11 1 43400000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCC8,ABTB2,ADM,AKIP1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,C11orf74,C11orf91,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC143666,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR1343,MIR210,MIR210HG,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,QSER1,RAG1,RAG2,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 43400000 Gain Thyroid cancer FISH 19087340 ABCC8,ABTB2,ADM,AKIP1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,C11orf74,C11orf91,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC143666,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR1343,MIR210,MIR210HG,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,QSER1,RAG1,RAG2,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr1 114345578 114346383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSBN1 chr1 114346431 114408514 Gain and loss Pancreatic cancer SNP array 17952125 AP4B1-AS1,PTPN22,RSBN1 chr11 1 43500000 Gain Basal cell lymphoma Array CGH 16317097 ABCC8,ABTB2,ADM,AKIP1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,C11orf74,C11orf91,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC143666,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR1343,MIR210,MIR210HG,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,QSER1,RAG1,RAG2,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr11 1 43500000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 ABCC8,ABTB2,ADM,AKIP1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,C11orf74,C11orf91,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC143666,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR1343,MIR210,MIR210HG,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,QSER1,RAG1,RAG2,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr1 114351322 114351422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSBN1 chr1 114363464 114396077 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN22 chr11 14375139 14375175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRAS2 chr1 114379103 114611497 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AP4B1,AP4B1-AS1,BCL2L15,DCLRE1B,HIPK1,OLFML3,PTPN22 chr1 1 143916898 Loss Wilms tumour 250K Genotyping Arrays 21544195 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRGAP2B,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1143932 1144001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 144281984 Loss Wilms tumour 250K Genotyping Arrays 21544195 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX11L1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRGAP2B,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1144308 1144390 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 14431664 14468738 Loss Normal 244K array 17666407 NOT_FOUND chr1 114433437 114498064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP4B1,AP4B1-AS1,DCLRE1B,HIPK1 chr1 114433437 114498064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP4B1,AP4B1-AS1,DCLRE1B,HIPK1 chr11 14435629 14477974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 14435631 14477974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 14435631 14477974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114442212 114442312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AP4B1,AP4B1-AS1 chr1 114445950 114490584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP4B1,DCLRE1B,HIPK1 chr11 14457013 14457075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1 4468701 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANO9,AP2A2,ART1,ART5,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100133161,LOC100506082,LOC143666,LOC255512,LOC338651,LOC650368,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR4687,MIR483,MIR675,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,NUP98,ODF3,OR52B4,OR7E12P,OSBPL5,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RHOG,RIC8A,RNH1,RPLP2,RRM1,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,STIM1,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRIM21,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,ZNF195 chr1 114472160 114472205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIPK1 chr11 1447264 1458701 Gain and loss Pancreatic cancer SNP array 17952125 BRSK2 chr11 1447264 1465804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRSK2 chr11 1447264 1465804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRSK2 chr11 14473482 14988673 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CALCA,COPB1,CYP2R1,PDE3B,PSMA1 chr1 114481763 114497159 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HIPK1 chr11 14482999 14503568 Gain and loss Pancreatic cancer SNP array 17952125 COPB1 chr11 14482999 14589108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COPB1,PSMA1 chr11 14482999 14589108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPB1,PSMA1 chr11 1 44903980 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABCC8,ABTB2,ACCS,ACCSL,ADM,AKIP1,ALKBH3,ALX4,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,C11orf74,C11orf91,C11orf96,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC143666,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,QSER1,RAG1,RAG2,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr1 114493184 115117523 LOH Normal High-resolution SNP genotyping 21211785 BCAS2,HIPK1,OLFML3,SYT6,TRIM33 chr1 114497159 115115813 LOH Normal High-resolution SNP genotyping 21211785 BCAS2,HIPK1,OLFML3,SYT6,TRIM33 chr1 114497159 115117209 LOH Normal High-resolution SNP genotyping 21211785 BCAS2,HIPK1,OLFML3,SYT6,TRIM33 chr1 114497159 115117523 LOH Normal High-resolution SNP genotyping 21211785 BCAS2,HIPK1,OLFML3,SYT6,TRIM33 chr11 14509455 14541862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COPB1,PSMA1 chr1 114543891 115117523 LOH Normal High-resolution SNP genotyping 21211785 BCAS2,SYT6,TRIM33 chr1 114548311 114558715 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 14558429 15533951 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CALCA,CALCB,CYP2R1,INSC,PDE3B,PSMA1 chr1 114587984 114588099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 114594305 114594395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 114601954 115161423 LOH Normal High-resolution SNP genotyping 21211785 BCAS2,DENND2C,SYT6,TRIM33 chr1 114604721 114604816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 14606512 14610344 Gain and loss Pancreatic cancer SNP array 17952125 PSMA1 chr1 114615657 114615757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11461882 11520226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11461882 11520226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 14621907 14848926 Gain and loss Pancreatic cancer SNP array 17952125 PDE3B,PSMA1 chr11 14621913 14848926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE3B,PSMA1 chr11 14621913 14848926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE3B,PSMA1 chr1 114625552 115508975 LOH Normal High-resolution SNP genotyping 21211785 AMPD1,BCAS2,CSDE1,DENND2C,NRAS,SIKE1,SYCP1,SYT6,TRIM33 chr1 114627085 114627185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 114627212 115118807 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 BCAS2,SYT6,TRIM33 chr11 14644749 14645461 Gain and loss Pancreatic cancer SNP array 17952125 PSMA1 chr1 114652285 114765798 Gain and loss Pancreatic cancer SNP array 17952125 SYT6 chr11 1466001 1519000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRSK2,MOB2 chr1 1146705 1149548 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 TNFRSF4 chr11 14672679 14672779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE3B chr11 14696000 14699835 Gain and loss Pancreatic cancer SNP array 17952125 PDE3B chr1 114701931 115592847 LOH Normal High-resolution SNP genotyping 21211785 AMPD1,BCAS2,CSDE1,DENND2C,NRAS,SIKE1,SYCP1,TRIM33,TSHB,TSPAN2 chr1 114705901 115612794 LOH Normal High-resolution SNP genotyping 21211785 AMPD1,BCAS2,CSDE1,DENND2C,NRAS,SIKE1,SYCP1,TRIM33,TSHB,TSPAN2 chr1 114707821 115612794 LOH Normal High-resolution SNP genotyping 21211785 AMPD1,BCAS2,CSDE1,DENND2C,NRAS,SIKE1,SYCP1,TRIM33,TSHB,TSPAN2 chr11 14709393 14709493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE3B chr1 114710201 114811400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 11471343 11502118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 114734166 114734230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11473561 11531873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 114736921 114855304 Copy number Lung cancer - 20668451 NOT_FOUND chr1 114736921 114855304 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 114736921 114855304 Gain or loss Cancer - 20668451 NOT_FOUND chr1 114736921 114855304 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 114736921 114855304 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 114736921 114855304 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 114736921 114855304 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 114736922 114855304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 114736922 114855304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114736922 114855304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114745388 114745494 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 114745388 114745495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 114778045 114778123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 14788401 14788471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE3B chr1 114790658 114792505 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 114793807 114793907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 114802504 115433580 LOH Normal High-resolution SNP genotyping 21211785 AMPD1,BCAS2,CSDE1,DENND2C,NRAS,SIKE1,SYCP1,TRIM33 chr1 114804079 114804505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114811401 115039100 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIM33 chr1 114812460 114813423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114814948 114815045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 114822225 114836307 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 14831730 14864039 Gain Autism Exome sequencing and CGH 22495309 PDE3B chr1 114834869 114834977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114837516 114924774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 114845044 114845355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 14856134 14870327 Gain and loss Pancreatic cancer SNP array 17952125 PDE3B chr11 14856142 14870327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE3B chr11 14856142 14870327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE3B chr1 114879015 114879115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1 48800000 Deletion Medulloblastoma SNP arrays 21979893 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr1 114880139 114881984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 14883119 15056758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALCA,CYP2R1,PDE3B chr11 14883119 15056758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALCA,CYP2R1,PDE3B chr1 114889694 114923217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 14911180 15302149 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CALCA,CALCB,CYP2R1,INSC chr1 114911708 114925788 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 114911708 114925788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114911708 114925788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 114926992 115014255 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIM33 chr1 114926992 115014255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM33 chr1 114926992 115014255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM33 chr1 1149273 1149348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNFRSF4 chr1 114927764 114950281 Gain and loss Pancreatic cancer SNP array 17952125 TRIM33 chr1 11493227 11493327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 114939073 114939163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM33 chr11 14944792 14950408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 14944792 14950408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 14945817 14950427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1495028 1523309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MOB2 chr11 149520 6642613 Loss Barrett's syndrome BAC array 19417022 ANO9,AP2A2,APBB1,ARFIP2,ART1,ART5,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,C11orf40,C11orf42,CARS,CCKBR,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,CTSD,DCHS1,DEAF1,DNHD1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM160A2,FAM99A,FAM99B,FXC1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,ILK,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100506082,LOC143666,LOC255512,LOC338651,LOC650368,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR4687,MIR483,MIR675,MMP26,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,NUP98,ODF3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR7E12P,OSBPL5,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PRKCDBP,PSMD13,PTDSS2,RASSF7,RHOG,RIC8A,RNH1,RPLP2,RRM1,RRP8,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SMPD1,SNORA52,SNORA54,STIM1,SYT8,TAF10,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM68,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,UBQLN3,UBQLNL,ZNF195 chr1 114952290 114952587 Gain and loss Pancreatic cancer SNP array 17952125 TRIM33 chr1 114961627 114971557 Gain and loss Pancreatic cancer SNP array 17952125 TRIM33 chr1 114971580 115012646 Gain and loss Pancreatic cancer SNP array 17952125 TRIM33 chr1 114973639 114973739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM33 chr1 114981288 114981834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIM33 chr1 114982383 114982483 Gain and loss Pancreatic cancer SNP array 17952125 TRIM33 chr1 114982383 114982488 Gain and loss Pancreatic cancer SNP array 17952125 TRIM33 chr11 14989910 15005144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CALCA chr1 114991781 114991881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM33 chr11 1499935 1500708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MOB2 chr11 1500806 1526891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MOB2 chr11 15013785 15048468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 115017240 115039762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM33 chr1 115017240 115039762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM33 chr1 115017258 115039762 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIM33 chr1 115025711 115035270 Gain and loss Pancreatic cancer SNP array 17952125 TRIM33 chr1 115029016 116463106 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMPD1,BCAS2,CASQ2,CSDE1,DENND2C,NGF,NHLH2,NRAS,SIKE1,SYCP1,TRIM33,TSHB,TSPAN2,VANGL1 chr1 115029016 116463106 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMPD1,BCAS2,CASQ2,CSDE1,DENND2C,NGF,NHLH2,NRAS,SIKE1,SYCP1,TRIM33,TSHB,TSPAN2,VANGL1 chr1 115038290 115038390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM33 chr1 115039101 115165600 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS2,DENND2C,TRIM33 chr1 115041771 115042068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM33 chr1 115041773 115042068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM33 chr1 115048600 115061038 Copy number Acute lymphoblastic leukemia Affymetrix Genome-Wide Human SNP Array 6.0 21680795 TRIM33 chr1 115048600 115061038 Copy number Lung adenocarcinoma Power SYBR Green PCR Master Mix 19826477 TRIM33 chr1 115048600 115061038 Copy number Lung cancer - 20668451 TRIM33 chr1 115048600 115061038 Copy number Lung cancer Power SYBR Green PCR Master Mix 19826477 TRIM33 chr1 115048600 115061038 Gain Melanoma aCGH 19509136 TRIM33 chr1 115048600 115061038 Gain or loss Breast cancer - 20668451 TRIM33 chr1 115048600 115061038 Gain or loss Cancer - 20668451 TRIM33 chr1 115048600 115061038 Gain or loss Lung cancer - 20668451 TRIM33 chr1 115048600 115061038 Gain or loss Ovarian cancer - 20668451 TRIM33 chr1 115048600 115061038 Gain or loss Pancreas cancer - 20668451 TRIM33 chr1 115048600 115061038 Gain or loss Prostate cancer - 20668451 TRIM33 chr1 115048600 115061038 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TRIM33 chr1 115051108 115061038 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIM33 chr1 115051108 115061038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM33 chr1 115051108 115061038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM33 chr11 15051722 15056753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 15054121 15054211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 15057846 15339207 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CALCB,INSC chr1 115061059 115084034 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 NOT_FOUND chr1 115061061 115102147 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 115061061 115102147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115061061 115102147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115071864 115071968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 15072394 17766300 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCC8,C11orf58,CALCB,INSC,KCNC1,KCNJ11,MYOD1,NCR3LG1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,RPS13,SOX6,USH1C chr11 15090546 15225328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALCB,INSC chr11 15090546 15225328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALCB,INSC chr11 15093059 15225330 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CALCB,INSC chr11 15098572 15098672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CALCB chr1 115109531 115249682 Gain and loss Pancreatic cancer SNP array 17952125 AMPD1,BCAS2,DENND2C,NRAS chr1 115113623 115124829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS2 chr1 115113623 115124829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS2 chr1 115113630 115124822 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCAS2 chr11 1511740 1531489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MOB2 chr1 115117523 116370304 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AMPD1,BCAS2,CASQ2,CSDE1,DENND2C,NGF,NRAS,SIKE1,SYCP1,TSHB,TSPAN2,VANGL1 chr11 1512398 1527236 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MOB2 chr11 15128431 15138868 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 INSC chr11 1513357 1518391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MOB2 chr11 15135523 15135623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr11 1513882 1523832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MOB2 chr11 15138826 15138926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr11 15152117 15152201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr11 15155248 15224162 Gain and loss Pancreatic cancer SNP array 17952125 INSC chr11 15155275 15155375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr11 15156310 15156410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr1 11516501 11520000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 115165601 116557100 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMPD1,CASQ2,CSDE1,DENND2C,NGF,NHLH2,NRAS,SIKE1,SLC22A15,SYCP1,TSHB,TSPAN2,VANGL1 chr11 15180281 15180381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr1 115181371 115195597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND2C chr11 15181400 15181495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr1 11518480 12037897 LOH Normal High-resolution SNP genotyping 21211785 AGTRAP,CLCN6,DRAXIN,FBXO2,FBXO44,FBXO6,KIAA2013,MAD2L2,MTHFR,NPPA,NPPA-AS1,NPPB,PLOD1,PTCHD2 chr11 1519001 1552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MOB2 chr1 115198978 115339511 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AMPD1,CSDE1,DENND2C,NRAS,SIKE1 chr1 115198978 115339511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMPD1,CSDE1,DENND2C,NRAS,SIKE1 chr1 115198978 115339511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMPD1,CSDE1,DENND2C,NRAS,SIKE1 chr1 11520001 11628500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTCHD2 chr1 115203823 115203923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DENND2C chr11 15218558 15218658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr1 115246596 115246958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 115247078 115259515 Gain Spitz naevi FISH 22211292 NRAS chr1 1152536 1152680 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SDF4 chr1 1152536 1152709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SDF4 chr11 15258582 15258682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSC chr11 1527900 1527995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MOB2 chr1 115284457 115288983 Gain and loss Pancreatic cancer SNP array 17952125 CSDE1 chr11 15285086 15285186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1 52900000 Copy number Breast cancer bi-clustering algorithm 21949216 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Deletion Non-syndromic sensorineural hearing loss - 19222835 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Duplication T-cell acute lymphoblastic leukemia FISH 20065082 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Gain Ewing's sarcoma Reference 21437220 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Gain Glioblastoma multiforme aCGH 21080181 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Gain Glioblastoma multiforme conventional CGH 21080181 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Gain Normal Human genome CGH 40k ARRAY PLATFORM 22144094 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Gain or loss Endometrial cancer CGH 22040021 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Loss Astrocytoma CGH 17387387 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 52900000 Loss Breast cancer aCGH 21264507 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr1 115302677 115344127 Gain and loss Pancreatic cancer SNP array 17952125 SIKE1 chr11 1531857 1550035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr11 1531857 1550035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr11 15320195 15320242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1532413 1533286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr11 1533959 1543742 Gain and loss Pancreatic cancer SNP array 17952125 MOB2 chr11 15352077 15352177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115353371 115992862 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NGF,SYCP1,TSHB,TSPAN2 chr11 1536652 1539279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MOB2 chr11 1 53700000 Copy number Gastrointestinal stromal cancer CGH 17535989 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 53700000 Copy number Paraganglioma CGH 17535989 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr11 1 53700000 Copy number Pulmonary chondroma CGH 17535989 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM49B,TRIM5,TRIM51GP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr1 115373938 115378464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115373938 115378464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 15380255 15380430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 15387054 16280173 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 SOX6 chr1 115392155 115433638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYCP1 chr1 115392155 115433638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYCP1 chr1 115400000 222100000 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ABL2,ACBD6,ACP6,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf140,C1orf186,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf74,C1orf85,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CASQ1,CASQ2,CCDC19,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD55,CD58,CD5L,CD84,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNTN2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DIEXF,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DYRK3,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,EIF2D,ELF3,ELK4,EMBP1,ENSA,EPRS,ESRRG,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM189B,FAM20B,FAM46C,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72B,FAM72D,FAM78B,FAM91A2,FASLG,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GDAP2,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAO2,HAPLN2,HAX1,HCN3,HDGF,HFE2,HHAT,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HLX,HMCN1,HMGCS2,HORMAD1,HRNR,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IARS2,IER5,IFI16,IGFN1,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNH1,KCNJ10,KCNJ9,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LEMD1,LEMD1-AS1,LENEP,LGR6,LHX4,LHX9,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148696,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,MAB21L3,MAEL,MAN1A2,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR320B1,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NGF,NHLH1,NHLH2,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGLYRP3,PGLYRP4,PHGDH,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGFRN,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC22A15,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAPIN,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPAG17,SPATA17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYCP1,SYT11,SYT14,SYT2,TADA1,TAGLN2,TARS2,TATDN3,TBX15,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRAF3IP3,TRAF5,TRIM45,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSHB,TSPAN2,TSTD1,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USH2A,USP21,VAMP4,VANGL1,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687,ZNF697 chr11 15404672 15404772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 15443117 15443255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1154801 11561038 Copy number Autism exome sequencing 22495311 ACAP3,ACOT7,ACTRT2,AJAP1,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf127,C1orf174,C1orf200,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CASZ1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CLSTN1,CORT,CPSF3L,CTNNBIP1,DFFA,DFFB,DNAJC11,DVL1,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES5,ICMT,KCNAB2,KIAA1751,KIF1B,KLHL21,LOC100129534,LOC100133445,LOC100133612,LOC115110,LOC148413,LOC284661,LOC728716,LRRC47,LZIC,MASP2,MEGF6,MIB2,MIR34A,MIR4251,MIR4252,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MTOR,MTOR-AS1,MXRA8,NADK,NMNAT1,NOL9,NPHP4,PANK4,PARK7,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PRDM16,PRKCZ,PTCHD2,PUSL1,RBP7,RER1,RERE,RNF207,RPL22,SCNN1D,SDF4,SKI,SLC25A33,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SPSB1,SRM,SSU72,TARDBP,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF25,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,UBE2J2,UBE4B,UBIAD1,UTS2,VAMP3,VWA1,WRAP73,ZBTB48 chr11 15480439 15481869 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 15480646 15481288 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 15488274 16643890 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SOX6 chr1 1155000 1161164 Gain and loss Pancreatic cancer SNP array 17952125 SDF4 chr1 115500858 116577946 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CASQ2,NGF,NHLH2,SLC22A15,SYCP1,TSHB,TSPAN2,VANGL1 chr11 1550855 1576990 Gain and loss Pancreatic cancer SNP array 17952125 DUSP8,MOB2 chr11 1551084 1551154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MOB2 chr11 1552501 1724500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DUSP8,FAM99A,FAM99B,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC338651,MOB2 chr11 15538889 15539499 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 115540581 115592899 Gain and loss Pancreatic cancer SNP array 17952125 TSHB,TSPAN2 chr1 115541641 115541741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115570986 115748025 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 TSHB,TSPAN2 chr1 115578125 115578225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115579133 115579182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115598412 115598695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TSPAN2 chr1 115619836 115619936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN2 chr11 1562148 1563089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr11 1562148 1563089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr11 1 562228 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ANO9,ATHL1,B4GALNT4,BET1L,C11orf35,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,LOC100133161,LOC653486,LRRC56,NLRP6,ODF3,PKP3,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,SCGB1C1,SIGIRR,SIRT3 chr11 1562637 1563234 Gain and loss Pancreatic cancer SNP array 17952125 MOB2 chr11 1562637 1563234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr1 115630059 115682380 Gain or loss Breast cancer - 20668451 TSPAN2 chr1 115630059 115682380 Gain or loss Cancer - 20668451 TSPAN2 chr1 115630059 115682380 Gain or loss Lung cancer - 20668451 TSPAN2 chr1 115630059 115682380 Gain or loss Ovarian cancer - 20668451 TSPAN2 chr1 115630059 115682380 Gain or loss Pancreas cancer - 20668451 TSPAN2 chr1 115630059 115682380 Gain or loss Prostate cancer - 20668451 TSPAN2 chr1 115630059 115682380 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TSPAN2 chr1 115630060 115682380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSPAN2 chr1 115630060 115682380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN2 chr1 115648711 115648811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115708743 115708837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115717611 115717674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115719205 117399077 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-257K arrays 21546498 ATP1A1,ATP1A1OS,CASQ2,CD2,CD58,IGSF3,MAB21L3,MIR320B1,NGF,NHLH2,SLC22A15,VANGL1 chr11 1571930 1586323 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DUSP8,MOB2 chr1 115731155 115731255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115740492 118191836 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP1A1,ATP1A1OS,CASQ2,CD101,CD2,CD58,FAM46C,IGSF3,MAB21L3,MAN1A2,MIR320B1,MIR942,NGF,NHLH2,PTGFRN,SLC22A15,TRIM45,TTF2,VANGL1,VTCN1 chr1 1157492 1160284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDF4 chr1 1157492 1160284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDF4 chr11 1575523 1576056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP8,MOB2 chr11 15758934 15758954 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr1 115768428 115768518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 15777736 15777836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 157784 197428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC653486,ODF3,SCGB1C1 chr11 15779167 15797902 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 15779167 15817336 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 158017382 158018957 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr11 158017382 158018957 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 115816085 115820171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115828294 115828713 Gain and loss Pancreatic cancer SNP array 17952125 NGF chr11 1 58368275 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,APLNR,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,BTBD18,C11orf16,C11orf21,C11orf31,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CLP1,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTNND1,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100133161,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC653486,LOC729013,LPXN,LRP4,LRP4-AS1,LRRC4C,LRRC55,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,MED19,METTL15,MICAL2,MICALCL,MIR129-2,MIR130A,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10Q1,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5AK2,OR5AK4P,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6Q1,OR7E12P,OR7E14P,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBPL5,OVCH2,P2RX3,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRG2,PRG3,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SEC14L1P1,SERGEF,SERPING1,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SMPD1,SMTNL1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,SSRP1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TIMM10,TMEM41B,TMEM80,TMEM86A,TMEM9B,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49B,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBE2L6,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,YPEL4,ZBED5,ZDHHC13,ZDHHC5,ZFP91,ZFP91-CNTF,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr1 115838062 115838094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NGF chr11 1585371 1586269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP8,MOB2 chr11 1585371 1586269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP8,MOB2 chr1 115856547 115890485 Gain and loss Pancreatic cancer SNP array 17952125 NGF chr1 115861134 115861389 Gain and loss Pancreatic cancer SNP array 17952125 NGF chr11 1587459 1587559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUSP8,MOB2 chr1 115876535 115876665 Gain and loss Pancreatic cancer SNP array 17952125 NGF chr1 115883636 115883689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115892378 115892792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 115894322 115894406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115895139 115895239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115896639 115946097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 115900000 117600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP1A1,ATP1A1OS,CASQ2,CD101,CD2,CD58,IGSF3,MAB21L3,MIR320B1,NHLH2,PTGFRN,SLC22A15,VANGL1 chr1 115900000 117600000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ATP1A1,ATP1A1OS,CASQ2,CD101,CD2,CD58,IGSF3,MAB21L3,MIR320B1,NHLH2,PTGFRN,SLC22A15,VANGL1 chr1 115900000 117600000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ATP1A1,ATP1A1OS,CASQ2,CD101,CD2,CD58,IGSF3,MAB21L3,MIR320B1,NHLH2,PTGFRN,SLC22A15,VANGL1 chr1 115900970 115901619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115908745 115909576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115912307 115948066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 15920283 15920383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115936840 116479150 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CASQ2,NHLH2,VANGL1 chr11 15940325 47100237 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCC8,ABTB2,ACCS,ACCSL,ALKBH3,ALX4,AMBRA1,ANO3,ANO5,API5,APIP,ARHGAP1,ARL14EP,ATG13,BBOX1,BDNF,BDNF-AS,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CD82,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSRP3,CSTF3,DBX1,DCDC1,DCDC5,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,E2F8,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FANCF,FBXO3,FIBIN,FJX1,FSHB,GAS2,GTF2H1,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HPS5,HSD17B12,HTATIP2,IGSF22,IMMP1L,KCNA4,KCNC1,KCNJ11,KIAA1549L,KIF18A,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100126784,LOC100500938,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LOC494141,LRP4,LRP4-AS1,LRRC4C,LUZP2,MAPK8IP1,MDK,METTL15,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4486,MIR4688,MIR4694,MIR5582,MIR610,MIR670,MPPED2,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MUC15,MYOD1,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PAMR1,PAX6,PDHX,PEX16,PHF21A,PIK3C2A,PLEKHA7,PRDM11,PRMT3,PRR5L,PRRG4,PTPN5,QSER1,RAG1,RAG2,RCN1,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SEC14L1P1,SERGEF,SLC17A6,SLC1A2,SLC35C1,SLC5A12,SLC6A5,SNORD67,SOX6,SPTY2D1,SPTY2D1-AS1,SVIP,SYT13,TCP11L1,TMEM86A,TP53I11,TPH1,TRAF6,TRIM44,TSG101,TSPAN18,TTC17,UEVLD,USH1C,WT1,WT1-AS,ZDHHC13,ZNF408 chr1 11594658 11594757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTCHD2 chr1 115946967 115948360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 15948371 16454494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX6 chr11 15948371 16454494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX6 chr11 15949900 16454494 Gain and loss Pancreatic cancer SNP array 17952125 SOX6 chr1 115950615 115950870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115950615 115950916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115954670 116023444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 115966016 115966149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 15968912 15969012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 115978228 116004334 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 115985214 115985310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 15985670 16859250 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf58,PLEKHA7,SOX6 chr1 115986097 116042368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 115986097 116042368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1598764 1599944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC338651,MOB2 chr11 1598764 1599944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC338651,MOB2 chr11 1599213 1599878 Gain and loss Pancreatic cancer SNP array 17952125 LOC338651,MOB2 chr11 16001034 16001134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr11 16007851 16007935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr1 116009787 116009887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 16019869 16019986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr1 116021664 116021729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 116031007 116034360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 116031007 116034363 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 116044147 116112929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116044147 116112929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11605480 11605772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 16065437 16065537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr11 1607581 1608513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC338651,MOB2 chr11 1607581 1608513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC338651,MOB2 chr11 1607647 1608360 Gain and loss Pancreatic cancer SNP array 17952125 LOC338651,MOB2 chr1 116080654 116108285 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr1 116091047 116095789 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 16098029 16098084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr11 16100000 21600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16100000 21600000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 130 samples 21899760 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16100000 21600000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16100000 21600000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16100000 21600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16100000 21600000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16100000 21600000 Loss Urothelial cell carcinoma FISH 18451213 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr1 1 16100000 Gain Glioblastoma multiforme conventional CGH 21080181 AADACL3,AADACL4,ACAP3,ACOT7,ACTRT2,AGMAT,AGRN,AGTRAP,AJAP1,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf126,C1orf127,C1orf158,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CASP9,CASZ1,CCDC27,CCNL2,CDK11A,CDK11B,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLSTN1,CORT,CPSF3L,CTNNBIP1,CTRC,DDI2,DDX11L1,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,EFHD2,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FBLIM1,FBXO2,FBXO44,FBXO6,FHAD1,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,HNRNPCL1,ICMT,ISG15,KAZN,KCNAB2,KIAA1751,KIAA2013,KIF1B,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC440563,LOC643837,LOC649330,LOC728716,LOC729737,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIB2,MIIP,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MTHFR,MTOR,MTOR-AS1,MXRA8,NADK,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PARK7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RBP7,RER1,RERE,RNF207,RNF223,RPL22,RSC1A1,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPSB1,SRM,SSU72,TARDBP,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM51,TMEM52,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D,VWA1,WASH7P,WRAP73,ZBTB48 chr1 1161001 1174500 Copy number Normal ReadDepth: A Parallel R Package 21305028 B3GALT6,SDF4 chr11 16102438 16102518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX6 chr1 116111633 116112449 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1611186 1611326 Deletion Medulloblastoma Illumina SNP arrays 21163964 LOC338651,MOB2 chr11 16117496 16117575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr1 1161232 1266721 Deletion Schizophrenia NimbleGen HD2 platform 21346763 ACAP3,B3GALT6,CPSF3L,FAM132A,GLTPD1,PUSL1,SCNN1D,SDF4,UBE2J2 chr11 16135202 16838625 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C11orf58,PLEKHA7,SOX6 chr1 11614430 11614514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1617701 1621900 Deletion Glioma mate-paired sequence 20126413 KRTAP5-2,LOC338651,MOB2 chr11 16179736 16180054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX6 chr1 116180528 116188061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VANGL1 chr1 116180528 116188061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VANGL1 chr1 116183655 116183754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1619531 1620111 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC338651,MOB2 chr11 1619588 1620137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC338651,MOB2 chr11 16200000 21700000 Copy number Uterine serous papillary cancer 7500 Real-Time PCR System 19536090 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16200000 21700000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16200000 21700000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ABCC8,C11orf58,CSRP3,DBX1,E2F8,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC494141,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr11 16200000 26100000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCC8,ANO5,C11orf58,CSRP3,DBX1,E2F8,FANCF,GAS2,GTF2H1,HPS5,HTATIP2,IGSF22,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC100500938,LOC494141,LUZP2,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,PRMT3,PTPN5,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,SLC17A6,SLC6A5,SOX6,SPTY2D1,SPTY2D1-AS1,SVIP,TMEM86A,TPH1,TSG101,UEVLD,USH1C,ZDHHC13 chr1 116201108 116201963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VANGL1 chr11 16222459 16222993 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 SOX6 chr1 116231161 116324067 Gain and loss Pancreatic cancer SNP array 17952125 CASQ2,VANGL1 chr11 16233290 16233390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr1 116242978 116243078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASQ2 chr11 16251510 16251610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr1 116254646 116275005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CASQ2 chr11 16281025 16382534 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 SOX6 chr1 11628501 11789000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DRAXIN,FBXO2,FBXO44,FBXO6,MAD2L2 chr1 11631033 11637326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11631033 11637326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116320642 116413548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NHLH2 chr1 116320642 116413548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NHLH2 chr1 116335165 116335315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11633740 11633799 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr1 116344466 116344566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 16355798 16355898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr11 16359927 16360027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr1 116366424 116389903 Gain and loss Pancreatic cancer SNP array 17952125 NHLH2 chr1 116367475 116367575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 16368294 16368372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX6 chr1 11637019 11645971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11637019 11645971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11637681 11649005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 16380236 16380336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr11 16403146 16403472 Gain and loss Pancreatic cancer SNP array 17952125 SOX6 chr11 16407833 16407896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr11 1643401 1645661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr11 1643401 1645661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr1 116455905 116479384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116455905 116479384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 16461857 16462794 Gain and loss Pancreatic cancer SNP array 17952125 SOX6 chr11 16461857 16462794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX6 chr1 11646768 11656994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11646768 11656994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116481708 116481935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 11648698 11657649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 16489607 16489700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX6 chr1 116533270 116533485 Gain and loss Pancreatic cancer SNP array 17952125 SLC22A15 chr11 16543739 16543874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 16554140 16554462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 16554975 16555203 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 16554975 16555203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116556512 116556612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC22A15 chr1 116557101 116987200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP1A1,ATP1A1OS,MAB21L3,SLC22A15 chr1 116571189 116571416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC22A15 chr1 11657123 11674265 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 11657123 11674265 Gain or loss Cancer - 20668451 NOT_FOUND chr1 11657123 11674265 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 11657123 11674265 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 11657123 11674265 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 11657123 11674265 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 11657125 11674294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11657125 11674294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116577946 116914536 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MAB21L3,SLC22A15 chr1 116581324 116581399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC22A15 chr1 11658447 11668673 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 16594099 18201310 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-720K arrays 21546498 ABCC8,C11orf58,KCNC1,KCNJ11,MRGPRX3,MRGPRX4,MYOD1,NCR3LG1,NUCB2,OR7E14P,PIK3C2A,PLEKHA7,RPS13,SAA3P,SAAL1,SERGEF,TPH1,USH1C chr11 1661713 1662986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr1 11662206 11662266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 116622439 116657194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAB21L3 chr1 116622751 116622965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116622751 116622966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 16626917 47386308 Loss Medulloblastoma array-CGH 16783165 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ALKBH3,ALX4,AMBRA1,ANO3,ANO5,API5,APIP,ARFGAP2,ARHGAP1,ARL14EP,ATG13,BBOX1,BDNF,BDNF-AS,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CD82,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSRP3,CSTF3,DBX1,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,E2F8,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FANCF,FBXO3,FIBIN,FJX1,FSHB,GAS2,GTF2H1,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HPS5,HSD17B12,HTATIP2,IGSF22,IMMP1L,KCNA4,KCNC1,KCNJ11,KIAA1549L,KIF18A,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100126784,LOC100500938,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LOC494141,LRP4,LRP4-AS1,LRRC4C,LUZP2,MADD,MAPK8IP1,MDK,METTL15,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4486,MIR4688,MIR4694,MIR5582,MIR610,MIR670,MPPED2,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MUC15,MYBPC3,MYOD1,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NR1H3,NUCB2,OR7E14P,PACSIN3,PAMR1,PAX6,PDHX,PEX16,PHF21A,PIK3C2A,PLEKHA7,PRDM11,PRMT3,PRR5L,PRRG4,PTPN5,QSER1,RAG1,RAG2,RCN1,RPS13,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SEC14L1P1,SERGEF,SLC17A6,SLC1A2,SLC35C1,SLC5A12,SLC6A5,SNORD67,SPI1,SPTY2D1,SPTY2D1-AS1,SVIP,SYT13,TCP11L1,TMEM86A,TP53I11,TPH1,TRAF6,TRIM44,TSG101,TSPAN18,TTC17,UEVLD,USH1C,WT1,WT1-AS,ZDHHC13,ZNF408 chr1 116627878 116659436 Gain and loss Pancreatic cancer SNP array 17952125 MAB21L3 chr11 16629308 16629395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 16630248 16630337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 116668430 116668533 Gain and loss Pancreatic cancer SNP array 17952125 MAB21L3 chr1 116674699 117767684 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP1A1,ATP1A1OS,CD101,CD2,CD58,IGSF3,MAB21L3,MIR320B1,MIR942,PTGFRN,TRIM45,TTF2,VTCN1 chr1 116676664 116676764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAB21L3 chr11 16677382 16710613 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 116679568 116711050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 11668219 11668262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11668811 11685973 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 116689182 116702183 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 1 16700000 Deletion Epilepsy array comparative genomic hybridization (CGH) 22118685 AADACL3,AADACL4,ACAP3,ACOT7,ACTRT2,AGMAT,AGRN,AGTRAP,AJAP1,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ARHGEF19,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf126,C1orf127,C1orf158,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf64,C1orf86,CA6,CALML6,CAMTA1,CASP9,CASZ1,CCDC27,CCNL2,CDK11A,CDK11B,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CPSF3L,CTNNBIP1,CTRC,DDI2,DDX11L1,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,EFHD2,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,EXOSC10,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,HNRNPCL1,HSPB7,ICMT,ISG15,KAZN,KCNAB2,KIAA1751,KIAA2013,KIF1B,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC440563,LOC643837,LOC649330,LOC728716,LOC729737,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIB2,MIIP,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MTHFR,MTOR,MTOR-AS1,MXRA8,NADK,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PARK7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RBP7,RER1,RERE,RNF207,RNF223,RPL22,RSC1A1,RSG1,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPEN,SPSB1,SRM,SSU72,SZRD1,TARDBP,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM51,TMEM52,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UQCRHL,UTS2,VAMP3,VPS13D,VWA1,WASH7P,WRAP73,ZBTB17,ZBTB48 chr1 1 16700000 Deletion Schizophrenia array comparative genomic hybridization (CGH) 22118685 AADACL3,AADACL4,ACAP3,ACOT7,ACTRT2,AGMAT,AGRN,AGTRAP,AJAP1,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ARHGEF19,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf126,C1orf127,C1orf158,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf64,C1orf86,CA6,CALML6,CAMTA1,CASP9,CASZ1,CCDC27,CCNL2,CDK11A,CDK11B,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CPSF3L,CTNNBIP1,CTRC,DDI2,DDX11L1,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,EFHD2,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,EXOSC10,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,HNRNPCL1,HSPB7,ICMT,ISG15,KAZN,KCNAB2,KIAA1751,KIAA2013,KIF1B,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC440563,LOC643837,LOC649330,LOC728716,LOC729737,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIB2,MIIP,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MTHFR,MTOR,MTOR-AS1,MXRA8,NADK,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PARK7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RBP7,RER1,RERE,RNF207,RNF223,RPL22,RSC1A1,RSG1,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPEN,SPSB1,SRM,SSU72,SZRD1,TARDBP,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM51,TMEM52,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UQCRHL,UTS2,VAMP3,VPS13D,VWA1,WASH7P,WRAP73,ZBTB17,ZBTB48 chr11 16705241 16705381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 116707196 116707299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 116707200 116707299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 16716770 16734149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 16716770 16734149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 16716770 16734149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116717405 116748917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116717405 116748917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 16720743 16720833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 16723249 16723322 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 16723249 16723322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11674366 11703237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11674366 11703237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116744829 116744929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 116748859 116762720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1675001 1675561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr11 1675001 1675561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr1 116757911 116758014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116758971 116825703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1167628 1170420 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 B3GALT6 chr11 16765791 16992535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf58,PLEKHA7 chr11 16765791 16992535 Gain and loss Pancreatic cancer SNP array 17952125 C11orf58,PLEKHA7 chr11 16765791 16992535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf58,PLEKHA7 chr1 116768645 116768745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1167696 1171965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GALT6 chr1 1167696 1171965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALT6 chr1 116771194 116771294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 116787720 116788756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 116796675 116796776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 16798130 16798220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 116803686 116803815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 16807784 16807821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 16820376 16820613 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA7 chr11 16820376 16820706 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA7 chr11 16820376 16820710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA7 chr1 116829073 116921095 Gain and loss Pancreatic cancer SNP array 17952125 ATP1A1 chr1 116842309 117694039 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP1A1,ATP1A1OS,CD101,CD2,CD58,IGSF3,MIR320B1,MIR942,PTGFRN,TRIM45,TTF2,VTCN1 chr1 116858958 116915184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116858958 116915184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11686096 11714916 Gain and loss Pancreatic cancer SNP array 17952125 FBXO2,FBXO44 chr11 16861452 16861552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA7 chr11 16862124 16862176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLEKHA7 chr11 16869335 16896380 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLEKHA7 chr11 16869417 16869504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA7 chr11 16870424 16882816 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLEKHA7 chr11 16876793 16876891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA7 chr1 116876957 116986717 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP1A1,ATP1A1OS chr1 116876957 116986717 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP1A1,ATP1A1OS chr1 116877066 116877161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 116877117 116878237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 116879688 116880008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 116880938 116915594 Loss or gain Normal 244K array 17666407 NOT_FOUND chr11 16902529 16947428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLEKHA7 chr1 116914536 118260896 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP1A1,ATP1A1OS,CD101,CD2,CD58,FAM46C,IGSF3,MAN1A2,MIR320B1,MIR942,PTGFRN,TRIM45,TTF2,VTCN1 chr1 116918554 117011837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP1A1,ATP1A1OS chr1 116918554 117011837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP1A1,ATP1A1OS chr1 116918719 116919104 Gain Normal 244K array 17666407 ATP1A1 chr1 116945913 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD55,CD58,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,EMBP1,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM46C,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72B,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GDAP2,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HMGCS2,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAN1A2,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHGDH,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGFRN,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPAG17,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX15,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM45,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR26,WDR3,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF697,ZNF847P,ZP4 chr11 16952545 16952606 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA7 chr11 16952545 16952606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA7 chr11 16952746 16953168 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLEKHA7 chr1 116964951 116965096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 116969176 116969490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 116979999 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD55,CD58,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,EMBP1,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM46C,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72B,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GDAP2,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HMGCS2,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAN1A2,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHGDH,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGFRN,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPAG17,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX15,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM45,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR26,WDR3,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF697,ZNF847P,ZP4 chr1 116982175 117013482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 116987201 117695600 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD101,CD2,CD58,IGSF3,MIR320B1,MIR942,PTGFRN,TRIM45,TTF2,VTCN1 chr1 117002894 117002994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 117009144 117023892 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17010125 17033107 Gain Normal Quantitative PCR 18989455 PLEKHA7 chr1 117015894 117015972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17030154 17030421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA7 chr1 117038257 117050748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117038257 117050748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17052075 17052158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17052514 17055796 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr11 17052515 17055796 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17052515 17055796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17052776 17052867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17052777 17052867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17052777 17052867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17053901 17053991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17053902 17053991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17053902 17053991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17055852 17186106 Gain or loss Breast cancer - 20668451 OR7E14P,PIK3C2A,RPS13 chr11 17055852 17186106 Gain or loss Cancer - 20668451 OR7E14P,PIK3C2A,RPS13 chr11 17055852 17186106 Gain or loss Lung cancer - 20668451 OR7E14P,PIK3C2A,RPS13 chr11 17055852 17186106 Gain or loss Ovarian cancer - 20668451 OR7E14P,PIK3C2A,RPS13 chr11 17055852 17186106 Gain or loss Pancreas cancer - 20668451 OR7E14P,PIK3C2A,RPS13 chr11 17055852 17186106 Gain or loss Prostate cancer - 20668451 OR7E14P,PIK3C2A,RPS13 chr1 117057978 117058980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD58 chr11 17064705 17147864 Gain and loss Pancreatic cancer SNP array 17952125 OR7E14P,PIK3C2A,RPS13 chr11 17064705 17147930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR7E14P,PIK3C2A,RPS13 chr11 17064705 17147930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR7E14P,PIK3C2A,RPS13 chr1 117068898 117068930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD58 chr1 117073314 117085788 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CD58 chr11 1708184 1914879 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CTSD,IFITM10,KRTAP5-6,LSP1,MIR4298,MOB2,SYT8,TNNI2 chr1 117084126 117086754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD58 chr11 17093775 17093886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17093775 17093886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17093789 17093886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 117098609 117113371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD58 chr1 117098609 117113371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD58 chr11 17099512 17099612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1710216 1728397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP5-6,MOB2 chr11 1710216 1728397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP5-6,MOB2 chr11 17108169 17153470 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3C2A chr1 117119265 117119768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF3 chr1 117126088 117171196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGSF3 chr11 1713019 1725715 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP5-6,MOB2 chr11 17152416 17152728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIK3C2A chr11 17156653 17156753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3C2A chr1 117164731 117245014 Gain and loss Pancreatic cancer SNP array 17952125 IGSF3,MIR320B1 chr11 17171612 17172431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2A chr11 17172044 17172431 Gain and loss Pancreatic cancer SNP array 17952125 PIK3C2A chr1 11718729 11733412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO44,FBXO6 chr1 11718729 11733412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO44,FBXO6 chr11 17206368 17207311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17206402 17207274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 117217039 117217116 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17244181 17277944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 1724501 1746000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MOB2 chr1 117249295 117249439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17251985 17252128 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17251985 17252128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117254207 117334495 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CD2 chr1 117254207 117334495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD2 chr1 117254207 117334495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD2 chr11 17254860 17309646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUCB2 chr11 17254860 17309646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUCB2 chr1 117256476 117288798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 117262927 117263027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 1727208 1760757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IFITM10,MOB2 chr11 17273447 17309114 Gain and loss Pancreatic cancer SNP array 17952125 NUCB2 chr11 1729499 1762234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IFITM10,MOB2 chr1 11730478 11745088 Gain and loss Pancreatic cancer SNP array 17952125 FBXO6,MAD2L2 chr11 1730561 1741798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr11 1730561 1741798 Gain and loss Pancreatic cancer SNP array 17952125 MOB2 chr11 1730561 1741798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOB2 chr1 117306520 117306597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD2 chr1 117314991 117357531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17329885 17355443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUCB2 chr11 17329885 17355443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUCB2 chr11 17329892 17355445 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NUCB2 chr11 17329895 17350635 Gain and loss Pancreatic cancer SNP array 17952125 NUCB2 chr11 1733191 2138300 Duplication Myelodysplastic syndrome - 21251322 CTSD,H19,IFITM10,LSP1,MIR4298,MIR675,MOB2,MRPL23,MRPL23-AS1,SYT8,TNNI2,TNNT3 chr1 1173371 1174891 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr11 17345501 17766500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC8,KCNC1,KCNJ11,MYOD1,NCR3LG1,NUCB2,USH1C chr1 117345905 117380690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117345905 117380690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117356775 117356875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 17363983 17367440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17365042 17366214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117365732 117376453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 17371008 17455025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC8,KCNJ11,NCR3LG1 chr11 17371008 17455025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC8,KCNJ11,NCR3LG1 chr11 17371009 17455025 Gain and loss Pancreatic cancer SNP array 17952125 ABCC8,KCNJ11,NCR3LG1 chr1 117395395 117395495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 117398255 117465589 Gain and loss Pancreatic cancer SNP array 17952125 PTGFRN chr1 117404472 117447010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117404472 117447010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17406592 17406827 Loss Autism 1M Ailent CGH whole-genome array 21865298 KCNJ11 chr1 117416465 117416565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 117438788 117438873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1174501 1206000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM132A,UBE2J2 chr1 117455205 117466009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTGFRN chr1 117455205 117466009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTGFRN chr11 17457741 17522525 Gain and loss Pancreatic cancer SNP array 17952125 ABCC8,USH1C chr11 1746001 1755500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFITM10,MOB2 chr11 17467090 17522539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC8,USH1C chr11 17467090 17522539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC8,USH1C chr11 17472017 17522539 Deletion Usher type I cohort CGH-microarray chip 21436283 ABCC8,USH1C chr11 17474871 17474971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC8 chr11 17480945 17481045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC8 chr1 117482374 117482754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTGFRN chr1 117487732 117555076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD101,PTGFRN chr1 117487732 117555076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD101,PTGFRN chr1 117487947 117520505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTGFRN chr11 17489172 17506012 Loss Normal 244K array 17666407 ABCC8 chr1 11749386 11760935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRAXIN,MAD2L2 chr1 117497877 117498163 Gain and loss Pancreatic cancer SNP array 17952125 PTGFRN chr11 17513364 17558347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USH1C chr11 17516010 17516079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH1C chr11 17521008 17543080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USH1C chr11 17525951 17625273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USH1C chr11 17525951 17625273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USH1C chr11 17530120 17624067 Gain and loss Pancreatic cancer SNP array 17952125 USH1C chr1 11754766 11772228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DRAXIN chr1 11754766 11772228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRAXIN chr11 1755501 1760000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFITM10,MOB2 chr1 117568312 117568407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD101 chr1 117587358 117587644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117587359 117587653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117592559 117592683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 17593743 17593818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 17594980 17595038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 117600000 120700000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ADAM30,FAM46C,GDAP2,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,MAN1A2,MIR942,NBPF7,NOTCH2,PHGDH,REG4,SPAG17,TBX15,TRIM45,TTF2,VTCN1,WARS2,WDR3,ZNF697 chr1 117600000 120700000 Deletion Mental retardation \N 21062444 ADAM30,FAM46C,GDAP2,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,MAN1A2,MIR942,NBPF7,NOTCH2,PHGDH,REG4,SPAG17,TBX15,TRIM45,TTF2,VTCN1,WARS2,WDR3,ZNF697 chr1 117600000 120700000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ADAM30,FAM46C,GDAP2,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,MAN1A2,MIR942,NBPF7,NOTCH2,PHGDH,REG4,SPAG17,TBX15,TRIM45,TTF2,VTCN1,WARS2,WDR3,ZNF697 chr1 117600000 120700000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ADAM30,FAM46C,GDAP2,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,MAN1A2,MIR942,NBPF7,NOTCH2,PHGDH,REG4,SPAG17,TBX15,TRIM45,TTF2,VTCN1,WARS2,WDR3,ZNF697 chr1 117600000 120700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM30,FAM46C,GDAP2,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,MAN1A2,MIR942,NBPF7,NOTCH2,PHGDH,REG4,SPAG17,TBX15,TRIM45,TTF2,VTCN1,WARS2,WDR3,ZNF697 chr11 17602162 17602252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11761065 11783907 Gain and loss Pancreatic cancer SNP array 17952125 DRAXIN chr1 117622113 117781203 Gain and loss Pancreatic cancer SNP array 17952125 MIR942,TRIM45,TTF2,VTCN1 chr11 1763566 1763666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFITM10,MOB2 chr11 176372 176682 Copy number Autism exome sequencing 22495311 NOT_FOUND chr11 1765528 1765560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFITM10,MOB2 chr1 117661285 117661385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM45 chr1 117679901 117685200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 117681926 117683356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 117682003 117683406 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 17682950 18266276 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KCNC1,LOC494141,MRGPRX3,MRGPRX4,MYOD1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,TPH1 chr1 11768367 11788702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DRAXIN chr1 11768367 11788702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRAXIN chr1 117685357 117714542 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VTCN1 chr1 117695601 117872700 Copy number Normal ReadDepth: A Parallel R Package 21305028 VTCN1 chr11 17697686 17700251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17697686 17700251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17697735 17700254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1770359 1770676 Gain and loss Pancreatic cancer SNP array 17952125 IFITM10,MOB2 chr11 1770359 1770676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFITM10,MOB2 chr1 117711594 117870684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VTCN1 chr1 117711594 117870684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VTCN1 chr11 17712769 17750753 Gain and loss Pancreatic cancer SNP array 17952125 MYOD1 chr11 17714090 17750755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYOD1 chr11 17714090 17750755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYOD1 chr11 17715834 17715934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 17725636 17725736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 117745152 117779348 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 VTCN1 chr1 117754060 117754145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 17755440 17755946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17755440 17755946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 17766175 17991265 Gain and loss Pancreatic cancer SNP array 17952125 KCNC1,SERGEF chr11 17766175 17991285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNC1,SERGEF chr11 17766175 17991285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNC1,SERGEF chr11 17775137 17775221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNC1 chr11 17782586 17782665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNC1 chr11 17793551 17793651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNC1 chr1 117800000 121500000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 ADAM30,EMBP1,FAM46C,FAM72B,FCGR1B,GDAP2,HAO2,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,MAN1A2,NBPF7,NOTCH2,PHGDH,REG4,SPAG17,TBX15,WARS2,WDR3,ZNF697 chr1 117800000 249250621 Gain Breast cancer Microarray-based CGH 17133270 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,EMBP1,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM46C,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72B,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GDAP2,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HMGCS2,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAN1A2,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHGDH,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPAG17,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX15,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WARS2,WDR26,WDR3,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF697,ZNF847P,ZP4 chr11 1780695 1781901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTSD,MOB2 chr11 1780695 1781910 Gain and loss Pancreatic cancer SNP array 17952125 CTSD,MOB2 chr1 11780947 11800248 Gain and loss Pancreatic cancer SNP array 17952125 AGTRAP chr1 117811591 117815812 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 117814845 118737844 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM46C,GDAP2,MAN1A2,SPAG17,WDR3 chr11 178227 35140556 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCC8,ABTB2,ADM,AKIP1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,APIP,ARFIP2,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,C11orf16,C11orf21,C11orf35,C11orf40,C11orf42,C11orf58,C11orf91,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD59,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CNGA4,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DEAF1,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,FAM160A2,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,H19,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HPS5,HPX,HRAS,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100500938,LOC100506082,LOC100506305,LOC143666,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC494141,LOC644656,LOC650368,LOC653486,LOC729013,LRRC56,LSP1,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR1343,MIR210,MIR210HG,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4694,MIR483,MIR5691,MIR610,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NLRP14,NLRP6,NRIP3,NS3BP,NUCB2,NUP98,ODF3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OR7E14P,OSBPL5,OVCH2,PARVA,PAX6,PDDC1,PDE3B,PDHX,PGAP2,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRKCDBP,PRMT3,PRRG4,PSMA1,PSMD13,PTDSS2,PTH,PTPN5,QSER1,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCGB1C1,SCT,SCUBE2,SERGEF,SIGIRR,SIRT3,SLC17A6,SLC22A18,SLC22A18AS,SLC25A22,SLC5A12,SLC6A5,SMPD1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SVIP,SWAP70,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TMEM41B,TMEM80,TMEM86A,TMEM9B,TNNI2,TNNT3,TOLLIP,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN32,TSPAN4,TSSC4,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143,ZNF195,ZNF214,ZNF215 chr1 11782803 11909072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGTRAP,CLCN6,MTHFR,NPPA,NPPA-AS1 chr1 11782803 11909072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGTRAP,CLCN6,MTHFR,NPPA,NPPA-AS1 chr11 17828534 17828673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERGEF chr1 117844184 117844284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 117860646 117883028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 117872701 118201600 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM46C,MAN1A2 chr11 17880022 18500429 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GTF2H1,HPS5,LDHA,LDHAL6A,LDHC,LOC494141,MRGPRX3,MRGPRX4,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SERGEF,TPH1 chr1 117882599 118416501 Deletion Breast cancer FISH 17142309 FAM46C,GDAP2,MAN1A2 chr1 11788794 11825788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGTRAP chr1 11788794 11825788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGTRAP chr1 1178894 1182012 Gain and loss Pancreatic cancer SNP array 17952125 FAM132A chr1 11789001 11860500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGTRAP,MTHFR chr1 117892560 117892781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 117893560 117894082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 117895388 117896293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 117900766 118442220 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM46C,GDAP2,MAN1A2 chr11 17903312 17903390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SERGEF chr1 117908604 117908704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 117914677 117914770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1A2 chr1 1179157 1199097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM132A,UBE2J2 chr1 1179157 1199097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM132A,UBE2J2 chr11 17916515 17916615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERGEF chr1 117922092 117959602 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MAN1A2 chr1 117943284 117943406 Gain and loss Pancreatic cancer SNP array 17952125 MAN1A2 chr11 17949661 17949761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERGEF chr1 117950127 117972534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAN1A2 chr1 117950127 117972534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1A2 chr1 117955984 117956084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1A2 chr1 11796339 11809890 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGTRAP chr1 117968996 117970228 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MAN1A2 chr1 117981792 117981881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1A2 chr1 117984957 117985801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1A2 chr11 1799087 1799187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 17997772 18018885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERGEF chr11 17997772 18018885 Gain and loss Pancreatic cancer SNP array 17952125 SERGEF chr11 17997772 18018885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERGEF chr11 1800001 1870500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYT8,TNNI2 chr1 118002856 118002950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1A2 chr1 11800534 11837451 Gain and loss Pancreatic cancer SNP array 17952125 AGTRAP chr11 18027232 18156255 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 MRGPRX3,SAA3P,SAAL1,SERGEF,TPH1 chr1 118032766 118032887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1A2 chr11 18048746 18048823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPH1 chr1 1180538 1207334 Copy number Autism Illumina Humanhap300 Beadchips 19492091 FAM132A,UBE2J2 chr1 1180538 1207334 Gain and loss Pancreatic cancer SNP array 17952125 FAM132A,UBE2J2 chr11 18058465 18084214 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TPH1 chr11 18058467 18084193 Gain and loss Pancreatic cancer SNP array 17952125 TPH1 chr11 18058469 18084214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPH1 chr11 18058469 18084214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPH1 chr11 18090596 18094255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18090596 18094255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1809259 1815327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1809259 1815327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 180951 181169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 18095149 18095249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18099078 18116599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAAL1 chr11 18099078 18116599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAAL1 chr1 118109921 118110007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18115326 18116294 Gain and loss Pancreatic cancer SNP array 17952125 SAAL1 chr11 1811599 1815326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18120355 18120455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAAL1 chr11 18121775 18121861 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SAAL1 chr1 118122232 118122651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 118124079 118184248 Gain and loss Pancreatic cancer SNP array 17952125 FAM46C chr11 18150960 18152403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRGPRX3 chr11 18150960 18152403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRGPRX3 chr11 18151380 18152348 Gain and loss Pancreatic cancer SNP array 17952125 MRGPRX3 chr11 18161199 18161288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18167123 18167749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1816795 1819484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1816795 1819484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1817295 1819483 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 118173227 118173327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18181077 18202178 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MRGPRX4 chr11 18182001 18183500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 118184433 118215091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 118184513 118184613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18187284 18191685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18187408 18191685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 118208330 118439876 Gain and loss Pancreatic cancer SNP array 17952125 GDAP2 chr11 18209479 18214910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18209479 18214910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18209479 18214910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 118213560 118273729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 118213560 118273729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18223367 18226758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18223367 18226758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18225432 18225507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18226510 18226626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18226512 18226629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18226512 18226629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 182372 1674839 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 ANO9,AP2A2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,MIR210,MIR210HG,MOB2,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,TALDO1,TMEM80,TOLLIP,TSPAN4 chr11 182372 3270486 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NLRP6,NS3BP,ODF3,OSBPL5,PDDC1,PHLDA2,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 18240032 18241624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18240032 18241624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18244346 18248088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18244348 18248102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18244348 18248102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18244516 18244633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18244516 18244633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18244519 18244635 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18246940 18246993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 18256793 18300297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPS5,SAA1,SAA2,SAA2-SAA4,SAA4 chr11 18256793 18300297 Gain and loss Pancreatic cancer SNP array 17952125 HPS5,SAA1,SAA2,SAA2-SAA4,SAA4 chr11 18256793 18300297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPS5,SAA1,SAA2,SAA2-SAA4,SAA4 chr11 1825949 1826049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 118273914 118304572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 118273914 118304572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18280104 18280204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 11828356 11830989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 11828356 11830989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 118296377 118296518 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 118297811 118529357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDAP2,SPAG17,WDR3 chr1 118297811 118529357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDAP2,SPAG17,WDR3 chr11 18300718 18345153 Gain or loss Breast cancer - 20668451 GTF2H1,HPS5 chr11 18300718 18345153 Gain or loss Cancer - 20668451 GTF2H1,HPS5 chr11 18300718 18345153 Gain or loss Lung cancer - 20668451 GTF2H1,HPS5 chr11 18300718 18345153 Gain or loss Ovarian cancer - 20668451 GTF2H1,HPS5 chr11 18300718 18345153 Gain or loss Pancreas cancer - 20668451 GTF2H1,HPS5 chr11 18300718 18345153 Gain or loss Prostate cancer - 20668451 GTF2H1,HPS5 chr11 18300719 18345152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2H1,HPS5 chr11 18300719 18345152 Gain and loss Pancreatic cancer SNP array 17952125 GTF2H1,HPS5 chr11 18300719 18345152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2H1,HPS5 chr11 1830775 1870069 Deletion Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 SYT8,TNNI2 chr11 1830776 1870069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT8,TNNI2 chr11 1830776 1870069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT8,TNNI2 chr11 183080 184573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1830883 1870068 Gain and loss Pancreatic cancer SNP array 17952125 SYT8,TNNI2 chr11 18328802 18362407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GTF2H1,HPS5 chr11 18334302 18334402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPS5 chr11 18372683 18385969 Gain and loss Pancreatic cancer SNP array 17952125 GTF2H1 chr11 18372687 18386341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2H1 chr11 18372687 18386341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2H1 chr11 1837832 1856601 Loss Normal Birdsuite, version 1.5.2 22087296 SYT8 chr11 18386876 19433497 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CSRP3,E2F8,GTF2H1,IGSF22,LDHA,LDHAL6A,LDHC,MRGPRX1,MRGPRX2,NAV2,PTPN5,SPTY2D1,SPTY2D1-AS1,TMEM86A,TSG101,UEVLD,ZDHHC13 chr11 18390429 18429366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDHA chr11 18390429 18429366 Gain and loss Pancreatic cancer SNP array 17952125 LDHA chr11 18390429 18429366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDHA chr1 118394101 118397900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 18397720 20180445 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 CSRP3,DBX1,E2F8,IGSF22,LDHA,LDHAL6A,LDHC,LOC100126784,MIR4486,MIR4694,MRGPRX1,MRGPRX2,NAV2,NAV2-AS4,NAV2-AS5,PTPN5,SPTY2D1,SPTY2D1-AS1,TMEM86A,TSG101,UEVLD,ZDHHC13 chr11 18400051 18401251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 11840035 11842106 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 11840109 11841579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18418007 18418107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDHA chr11 18420758 18420853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDHA chr1 118425363 118425363 Copy number Prostate cancer Illumina GA II sequencer 21307934 GDAP2 chr11 18433950 18457723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDHC chr11 18433950 18457723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDHC chr11 18434007 18457723 Gain and loss Pancreatic cancer SNP array 17952125 LDHC chr11 1845532 1894476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1,MIR4298,SYT8,TNNI2 chr11 18458436 18505065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDHAL6A,LDHC,TSG101 chr11 18458436 18505065 Gain and loss Pancreatic cancer SNP array 17952125 LDHAL6A,LDHC,TSG101 chr11 18458436 18505065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDHAL6A,LDHC,TSG101 chr1 118475124 118475224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR3 chr11 18485684 19734372 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CSRP3,E2F8,IGSF22,LDHAL6A,LOC100126784,MIR4486,MRGPRX1,MRGPRX2,NAV2,NAV2-AS4,NAV2-AS5,PTPN5,SPTY2D1,SPTY2D1-AS1,TMEM86A,TSG101,UEVLD,ZDHHC13 chr1 118491301 118584699 Gain Stenocardia MACArray Karyo 7K BAC-chips 21860640 SPAG17,WDR3 chr1 118491301 118584699 Gain Vasospasm MACArray Karyo 7K BAC-chips 21860640 SPAG17,WDR3 chr11 18494259 18495297 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LDHAL6A chr1 118508243 118508338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG17 chr11 18509821 18566828 Gain and loss Pancreatic cancer SNP array 17952125 TSG101,UEVLD chr11 18509821 18566857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSG101,UEVLD chr11 18509821 18566857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSG101,UEVLD chr1 118515393 118515972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG17 chr1 11851790 11853254 Gain and loss Pancreatic cancer SNP array 17952125 MTHFR chr1 118519037 118519154 Gain and loss Pancreatic cancer SNP array 17952125 SPAG17 chr1 118532578 119435747 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SPAG17,TBX15 chr11 1853416 1899884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1,MIR4298,SYT8,TNNI2 chr11 1853921 1895219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1,MIR4298,SYT8,TNNI2 chr11 1855600 1905501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1,MIR4298,SYT8,TNNI2 chr11 1855962 1897796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1,MIR4298,SYT8,TNNI2 chr11 1856601 1863841 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SYT8,TNNI2 chr11 1856907 1895743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1,MIR4298,SYT8,TNNI2 chr1 118574074 118574174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG17 chr11 1857705 1857805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT8 chr11 18584527 18612596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UEVLD chr11 18584527 18612596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UEVLD chr11 18584770 18612596 Gain and loss Pancreatic cancer SNP array 17952125 UEVLD chr11 1860158 1894029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1,MIR4298,TNNI2 chr1 11860414 11863050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTHFR chr1 11860501 11863500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MTHFR chr1 118608518 118608635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG17 chr11 1860937 1861037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNNI2 chr1 118632000 118637505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPAG17 chr11 1863422 1901239 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1,MIR4298 chr1 11863501 12144000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLCN6,KIAA2013,MFN2,MIIP,MTHFR,NPPA,NPPA-AS1,NPPB,PLOD1,TNFRSF8 chr11 1863841 1917776 Gain Normal Birdsuite, version 1.5.2 22087296 LSP1,MIR4298 chr11 18638547 43124631 Substitutions and indels small cell lung cancer array-CGH 20016488 ABTB2,ANO3,ANO5,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf74,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSRP3,CSTF3,DBX1,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,E2F8,EHF,EIF3M,ELF5,ELP4,FANCF,FBXO3,FIBIN,FJX1,FSHB,GAS2,HIPK3,HTATIP2,IGSF22,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100126784,LOC100500938,LOC100507205,LOC338739,LRRC4C,LUZP2,METTL15,MIR1343,MIR3973,MIR4486,MIR4694,MIR610,MPPED2,MRGPRX1,MRGPRX2,MUC15,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NELL1,PAMR1,PAX6,PDHX,PRMT3,PRR5L,PRRG4,PTPN5,QSER1,RAG1,RAG2,RCN1,SLC17A6,SLC1A2,SLC5A12,SLC6A5,SPTY2D1,SVIP,TCP11L1,TMEM86A,TRAF6,TRIM44,WT1,WT1-AS,ZDHHC13 chr11 18643203 18643674 Gain and loss Pancreatic cancer SNP array 17952125 SPTY2D1 chr11 18643203 18643674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTY2D1 chr11 18649492 18681485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPTY2D1 chr1 118662280 118662375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG17 chr1 1186630 1189435 Gain and loss Pancreatic cancer SNP array 17952125 UBE2J2 chr11 18664622 18664722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 118665066 118665166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG17 chr11 1866951 1867766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1866951 1868660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 186738 190256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18674001 18761500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGSF22,PTPN5,TMEM86A chr11 18676926 18682908 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 18676927 18682908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18676927 18682908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 18676927 18682908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18682428 18704353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18682428 18704353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18682435 18702359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 186855 134203983 Gain Multiple myeloma FISH 20724749 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,ANO9,AP2A2,AP5B1,APBB1,API5,APIP,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL2,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATHL1,ATL3,ATM,ATP5L,B3GAT3,B3GNT1,B3GNT6,B4GALNT4,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BET1L,BIRC2,BIRC3,BLID,BRMS1,BRSK2,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf21,C11orf24,C11orf30,C11orf31,C11orf34,C11orf35,C11orf40,C11orf42,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CARS,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD151,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD81,CD82,CDC42BPG,CDC42EP2,CDCA5,CDHR5,CDK2AP2,CDKN1C,CDON,CELF1,CEND1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHID1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSD,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEAF1,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DRD4,DSCAML1,DTX4,DUSP8,DYNC2H1,E2F8,EED,EEF1G,EFCAB4A,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,EPS8L2,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAM99A,FAM99B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H19,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRAS,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IFT46,IGF2,IGF2-AS,IGHMBP2,IGSF22,IGSF9B,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INS,INS-IGF2,INSC,INTS4,INTS5,IPO7,IRF7,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ1,KCNJ11,KCNJ5,KCNK4,KCNK7,KCNQ1,KCNQ1DN,KCNQ1OT1,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRT8P41,KRTAP5-1,KRTAP5-10,KRTAP5-11,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00167,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC143666,LOC221122,LOC254100,LOC255512,LOC283143,LOC283174,LOC283194,LOC283214,LOC283299,LOC338651,LOC338739,LOC341056,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC653486,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRC56,LRRN4CL,LRTOMT,LSP1,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4298,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4686,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR4697,MIR483,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR675,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOB2,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRE,MRGPRF,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL23,MRPL23-AS1,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NAP1L4,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCAPD3,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NFRKB,NLRP10,NLRP14,NLRP6,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRIP3,NRXN2,NS3BP,NTM,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODF3,ODZ4,OLFML1,OMP,OPCML,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OSBPL5,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PARVA,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDDC1,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDA2,PHLDB1,PHOX2A,PHRF1,PICALM,PIDD,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PKP3,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,PNPLA2,POLA2,POLD3,POLD4,POLR2G,POLR2L,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PSMD13,PTDSS2,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RASSF7,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIC8A,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNH1,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPLP2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1C1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCT,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIGIRR,SIK2,SIK3,SIPA1,SIRT3,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A18,SLC22A18AS,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A22,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA52,SNORA54,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX19,SNX32,SORL1,SOX6,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,ST5,STARD10,STIM1,STIP1,STK33,STT3A,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT8,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TALDO1,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,TH,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM41B,TMEM45B,TMEM80,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53AIP1,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPM5,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF202,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 18689422 23716937 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANO5,CSRP3,DBX1,E2F8,FANCF,GAS2,HTATIP2,IGSF22,LOC100126784,LOC100500938,MIR4486,MIR4694,MRGPRX1,MRGPRX2,NAV2,NAV2-AS4,NAV2-AS5,NELL1,PRMT3,PTPN5,SLC17A6,SLC6A5,SVIP,TMEM86A,ZDHHC13 chr1 118696349 118696456 Gain and loss Pancreatic cancer SNP array 17952125 SPAG17 chr11 186966 2745315 Increase Cancer CGH 20581869 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 186966 2789993 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 ANO9,AP2A2,ASCL2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC143666,LOC255512,LOC338651,LOC653486,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr11 18706053 18769965 Gain and loss Pancreatic cancer SNP array 17952125 IGSF22,PTPN5,TMEM86A chr11 18706053 18770844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGSF22,PTPN5,TMEM86A chr11 18706053 18770844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF22,PTPN5,TMEM86A chr11 1871848 1893525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LSP1,MIR4298 chr11 18722169 18722224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM86A chr1 118764522 118764622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18767501 18771000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPN5 chr11 18775305 19038644 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MRGPRX1,PTPN5 chr1 118784338 118784438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 118785830 118785937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18789010 18789082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPN5 chr1 118791321 118791864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 118792737 119283944 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 NOT_FOUND chr1 118796872 118796972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18812001 18813000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPN5 chr11 18830001 18831500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 118837693 118837793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 118844132 120902013 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM30,FAM72B,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,TBX15,WARS2,ZNF697 chr11 18845442 41101129 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABTB2,ANO3,ANO5,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf74,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSRP3,CSTF3,DBX1,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,E2F8,EHF,EIF3M,ELF5,ELP4,FANCF,FBXO3,FIBIN,FJX1,FSHB,GAS2,HIPK3,HTATIP2,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100126784,LOC100500938,LOC338739,LRRC4C,LUZP2,METTL15,MIR1343,MIR3973,MIR4486,MIR4694,MIR610,MPPED2,MRGPRX1,MRGPRX2,MUC15,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NELL1,PAMR1,PAX6,PDHX,PRMT3,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC17A6,SLC1A2,SLC5A12,SLC6A5,SVIP,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS,ZDHHC13 chr11 188510 208012 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BET1L,LOC653486,ODF3,SCGB1C1 chr11 18867507 18867539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18884357 18938466 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 18884400 18884480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18889253 18944273 Loss Normal 244K array 17666407 NOT_FOUND chr11 18893930 18917342 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr11 18895746 18905647 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 18896657 18917742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18896657 18918927 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18897001 18921500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 18897446 18918564 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 18899443 18903962 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 18902176 18928883 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 18903769 18911757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 18905636 18917314 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18905636 18917629 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18905636 18917661 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18905636 18917742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18905636 18917845 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18905636 18917860 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18905636 18918552 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 18905636 18927312 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18905648 18911384 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 18905648 18918511 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 18905648 18918564 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 18905648 18918939 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 18905781 18918566 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 NOT_FOUND chr11 18905890 18916690 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr11 18906211 18917629 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18906820 18917661 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18906820 18917860 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18906820 18927312 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 18907033 18918255 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr11 18907033 18918255 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr1 11890796 11890915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCN6 chr1 118909038 118910139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 18911226 18913125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18911226 18913125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 18911384 18917326 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 18911939 18912907 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1891501 2020500 Copy number Normal ReadDepth: A Parallel R Package 21305028 H19,LSP1,MIR675,MRPL23,MRPL23-AS1,TNNT3 chr11 18916368 18929772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 18917326 18918564 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 18918564 18918939 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 18919140 18929539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 11892452 11892571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCN6 chr1 1189291 1209234 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 UBE2J2 chr1 118958478 118959792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 118958478 118959792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 1897445 1916514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LSP1 chr11 1897445 1916514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LSP1 chr11 1897512 1934403 Gain and loss Pancreatic cancer SNP array 17952125 LSP1 chr11 18976540 19154594 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MRGPRX2,ZDHHC13 chr11 18977501 18978500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 118979061 118979295 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 118987674 118987774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 18991001 18992500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 1900778 2021187 Duplication Normal Affymetrix 6.0 microarrays 20967226 H19,LSP1,MIR675,MRPL23,MRPL23-AS1,TNNT3 chr11 19018001 19019000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 11902475 11902594 Gain and loss Pancreatic cancer SNP array 17952125 CLCN6,NPPA-AS1 chr1 11902477 11902595 Gain and loss Pancreatic cancer SNP array 17952125 CLCN6,NPPA-AS1 chr1 119027099 119950442 LOH Normal High-resolution SNP genotyping 21211785 HAO2,TBX15,WARS2 chr11 19032581 19038804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 19032581 19038804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 19032581 19038804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 19033501 19035500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 11904129 11904248 Gain and loss Pancreatic cancer SNP array 17952125 NPPA-AS1 chr1 11904130 11904249 Gain and loss Pancreatic cancer SNP array 17952125 NPPA-AS1 chr11 19048001 19054000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 11905507 11920751 Gain and loss Pancreatic cancer SNP array 17952125 NPPA,NPPA-AS1,NPPB chr1 119057145 119057825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 19067927 19068244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 119080692 119080842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 19095268 19154542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZDHHC13 chr11 19095268 19154542 Gain and loss Pancreatic cancer SNP array 17952125 ZDHHC13 chr11 19095268 19154542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZDHHC13 chr11 1909619 1919609 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSP1 chr1 119098476 120339232 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,PHGDH,REG4,TBX15,WARS2,ZNF697 chr1 119100000 135374737 Copy number Apert syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ADAM30,EMBP1,FAM72B,FCGR1B,HAO2,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,TBX15,WARS2,ZNF697 chr1 119137711 119244221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 1915678 1918633 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 19157001 19170500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZDHHC13 chr11 19160154 19180177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZDHHC13 chr11 19160154 19180177 Gain and loss Pancreatic cancer SNP array 17952125 ZDHHC13 chr11 19160154 19180177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZDHHC13 chr11 1916133 1919941 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 1916437 1922464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 19168012 32271202 Der Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 ANO3,ANO5,ARL14EP,BBOX1,BDNF,BDNF-AS,CCDC34,CSRP3,DBX1,DCDC1,DCDC5,DKFZp686K1684,DNAJC24,E2F8,ELP4,FANCF,FIBIN,FSHB,GAS2,HTATIP2,IMMP1L,KCNA4,KIF18A,LGR4,LIN7C,LOC100126784,LOC100500938,LUZP2,METTL15,MIR4486,MIR4694,MIR610,MPPED2,MUC15,NAV2,NAV2-AS4,NAV2-AS5,NELL1,PAX6,PRMT3,RCN1,SLC17A6,SLC5A12,SLC6A5,SVIP,ZDHHC13 chr11 19170774 19170874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZDHHC13 chr1 11917333 11958182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPPB chr1 11917333 11958182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPPB chr11 1918436 1962328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNNT3 chr11 1918436 1962328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNNT3 chr1 119188301 119314800 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 1919463 1919643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 19202194 19219083 Gain and loss Pancreatic cancer SNP array 17952125 CSRP3 chr11 19202194 19219965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSRP3 chr11 19202194 19219965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSRP3 chr11 19202979 19203078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 19218501 19221500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSRP3 chr1 119223392 120350993 LOH Normal High-resolution SNP genotyping 21211785 HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,PHGDH,REG4,TBX15,WARS2,ZNF697 chr1 119227189 119333702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119227189 119333702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119233789 119950442 LOH Normal High-resolution SNP genotyping 21211785 HAO2,TBX15,WARS2 chr11 19264807 19264907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 19271878 19271967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 119283721 119285142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 1928421 1928538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 119285883 119395329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 11929012 11969860 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 192926 197391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC653486,ODF3,SCGB1C1 chr11 192926 197391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC653486,ODF3,SCGB1C1 chr1 119315210 119747280 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 TBX15,WARS2 chr1 119315210 132032120 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ADAM30,EMBP1,FAM72B,FCGR1B,HAO2,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,TBX15,WARS2,ZNF697 chr11 19322001 19325000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 119327001 119353000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 19351515 19401124 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 NAV2 chr1 119354890 119369775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 119360295 119360613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 119375362 119484818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBX15 chr1 119375362 119484818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX15 chr11 19379989 19380105 Gain and loss Pancreatic cancer SNP array 17952125 NAV2 chr11 19379989 19380105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV2 chr11 19380015 19380104 Gain and loss Pancreatic cancer SNP array 17952125 NAV2 chr1 119381522 119381956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 19382636 19382773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr11 19382761 19382979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr11 19412251 19412351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119415209 120497765 Amplification Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ADAM30,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,TBX15,WARS2,ZNF697 chr1 119415209 120497765 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ADAM30,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,TBX15,WARS2,ZNF697 chr11 19428686 19428786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119428786 119428886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBX15 chr1 119429054 119430100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX15 chr1 119432146 119432187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBX15 chr1 1194343 1194579 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBE2J2 chr11 19444193 20831014 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DBX1,HTATIP2,LOC100126784,MIR4486,MIR4694,NAV2,NAV2-AS4,NAV2-AS5,NELL1,PRMT3,SLC6A5 chr11 19469312 19469412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119470685 119471437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX15 chr1 119473979 119474584 Gain and loss Pancreatic cancer SNP array 17952125 TBX15 chr1 119490013 119780209 Gain Normal Birdsuite, version 1.5.2 22087296 TBX15,WARS2 chr1 119502385 119502485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBX15 chr11 19511815 19512126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NAV2 chr1 119513706 119513806 Gain and loss Pancreatic cancer SNP array 17952125 TBX15 chr1 119517201 119947300 Copy number Normal ReadDepth: A Parallel R Package 21305028 HAO2,TBX15,WARS2 chr1 119528725 142028840 Copy number Normal Quantitative Real-Time PCR 17666543 ADAM30,EMBP1,FAM72B,FCGR1B,HAO2,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,TBX15,WARS2,ZNF697 chr11 1953072 1956250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNNT3 chr11 1953072 1956250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNNT3 chr1 119545203 119545279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 119563455 119564242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 19569279 19569414 Gain and loss Pancreatic cancer SNP array 17952125 NAV2 chr11 19569279 19569414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV2 chr11 19582782 19582882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119586060 119586190 Gain and loss Pancreatic cancer SNP array 17952125 WARS2 chr1 119586069 119586190 Gain and loss Pancreatic cancer SNP array 17952125 WARS2 chr1 119603187 119603287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WARS2 chr11 1961015 1967726 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr1 119623474 119648793 Gain and loss Pancreatic cancer SNP array 17952125 WARS2 chr11 19625580 19625677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 11962824 11996159 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 KIAA2013,PLOD1 chr1 11962824 11996159 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 KIAA2013,PLOD1 chr1 11962956 11996154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA2013,PLOD1 chr1 11962956 11996154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA2013,PLOD1 chr11 19638257 19638347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119647065 119679790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WARS2 chr1 119656424 119656512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WARS2 chr1 119662925 120135251 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HAO2,HSD3B1,HSD3B2,HSD3BP4,WARS2 chr1 119669810 119677691 Gain and loss Pancreatic cancer SNP array 17952125 WARS2 chr1 119675514 119675671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WARS2 chr11 19691457 20099720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100126784,MIR4694,NAV2 chr11 19691457 20099720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100126784,MIR4694,NAV2 chr11 19691488 20099720 Gain and loss Pancreatic cancer SNP array 17952125 LOC100126784,MIR4694,NAV2 chr1 119712925 119738274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119712925 119738274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 19720501 19722500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NAV2 chr1 119721886 119727879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 19722095 19722195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119728738 119926619 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HAO2 chr1 119728738 119926619 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HAO2 chr11 1972984 1975648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL23 chr11 1972984 1975648 Gain and loss Pancreatic cancer SNP array 17952125 MRPL23 chr11 1972984 1975648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL23 chr11 1972987 1975651 Gain and loss Pancreatic cancer SNP array 17952125 MRPL23 chr11 1974556 1974650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL23 chr1 11974635 12007831 Gain and loss Pancreatic cancer SNP array 17952125 KIAA2013,PLOD1 chr1 119751272 119751500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 119759268 119767181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119759268 119767181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119761893 119769716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 119778602 119779226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119783153 119787385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119791629 120386698 LOH Normal High-resolution SNP genotyping 21211785 HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,PHGDH,REG4,ZNF697 chr1 119791629 121186686 LOH Normal High-resolution SNP genotyping 21211785 ADAM30,FAM72B,FCGR1B,HAO2,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr1 119806175 119807167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119811367 119817360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119813437 119813901 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 119814376 119815139 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 19817525 19848438 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 NAV2 chr1 119818839 120386698 LOH Normal High-resolution SNP genotyping 21211785 HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,PHGDH,REG4,ZNF697 chr1 119818839 121186686 LOH Normal High-resolution SNP genotyping 21211785 ADAM30,FAM72B,FCGR1B,HAO2,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr1 119820382 121186686 LOH Normal High-resolution SNP genotyping 21211785 ADAM30,FAM72B,FCGR1B,HAO2,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr11 19822395 19822495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119822558 119826732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 19827908 19828008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr11 19829422 20831014 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DBX1,HTATIP2,NAV2,NELL1,PRMT3,SLC6A5 chr11 1983300 1983503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 1983487 2583320 LOH Normal High-resolution SNP genotyping 21211785 ASCL2,C11orf21,CD81,H19,IGF2,IGF2-AS,INS,INS-IGF2,KCNQ1,MIR4686,MIR483,MIR675,MRPL23-AS1,TH,TRPM5,TSPAN32,TSSC4 chr11 1983487 2587524 LOH Normal High-resolution SNP genotyping 21211785 ASCL2,C11orf21,CD81,H19,IGF2,IGF2-AS,INS,INS-IGF2,KCNQ1,MIR4686,MIR483,MIR675,MRPL23-AS1,TH,TRPM5,TSPAN32,TSSC4 chr11 1983487 2608674 LOH Normal High-resolution SNP genotyping 21211785 ASCL2,C11orf21,CD81,H19,IGF2,IGF2-AS,INS,INS-IGF2,KCNQ1,MIR4686,MIR483,MIR675,MRPL23-AS1,TH,TRPM5,TSPAN32,TSSC4 chr1 119839985 119840987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119840000 120530000 Loss Breast cancer aCGH 21509527 ADAM30,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr11 19850412 22631456 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANO5,DBX1,HTATIP2,NAV2,NELL1,PRMT3,SLC17A6,SLC6A5 chr1 119850931 119851499 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 119851349 119859204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119851349 119859204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 198530 205106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BET1L,ODF3 chr11 198530 205106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BET1L,ODF3 chr1 119859899 119860042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 19868547 19902141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAV2 chr1 119869201 120436800 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ADAM30,HAO2,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LINC00622,NBPF7,PHGDH,REG4,ZNF697 chr11 19876317 19879698 Loss Normal Birdsuite, version 1.5.2 22087296 NAV2 chr1 119877370 119878062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 119877895 119878892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119882655 119890059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119897756 119931088 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 HAO2 chr1 119900254 119904081 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 119902901 119903901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119904081 119916399 Gain Normal Birdsuite, version 1.5.2 22087296 HAO2 chr1 119909125 119927963 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HAO2 chr1 119910636 119927963 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HAO2 chr1 119910636 119931076 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HAO2 chr1 119910636 119956321 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HAO2 chr1 119912022 119931076 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HAO2 chr1 119912039 119916213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAO2 chr1 119916400 119951040 Gain Normal Birdsuite, version 1.5.2 22087296 HAO2 chr1 119919507 119931076 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HAO2 chr11 1992639 1992717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 119940313 119941325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 19940630 19940723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119949380 119949523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119951040 119953111 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 119957963 119994447 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 HSD3B2 chr11 19962769 19962981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 119965036 119965108 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HSD3B2 chr1 119966552 119998878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 119966851 119967261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 119979355 120409198 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGCS2,HSD3B1,HSD3BP4,LINC00622,NBPF7,PHGDH,REG4,ZNF697 chr1 119992402 121186686 LOH Normal High-resolution SNP genotyping 21211785 ADAM30,FAM72B,FCGR1B,HIST2H2BA,HMGCS2,HSD3B1,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr1 119996566 120303234 Amplification Cancer Affymetrix 250K Sty array 20164920 HMGCS2,HSD3B1,HSD3BP4,LINC00622,PHGDH,ZNF697 chr11 20001211 20099723 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NAV2 chr1 120003047 120023560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 20012083 20012179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 12002099 12014693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLOD1 chr1 12002099 12014693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLOD1 chr1 120045137 120409198 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGCS2,HSD3B1,HSD3BP4,LINC00622,NBPF7,PHGDH,REG4,ZNF697 chr1 120048501 147321900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACP6,ADAM30,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,EMBP1,FAM72B,FAM72D,FCGR1B,FLJ39739,FMO5,GJA5,GNRHR2,GPR89A,GPR89C,HFE2,HIST2H2BA,HMGCS2,HSD3B1,HSD3BP4,HYDIN2,ITGA10,LINC00622,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF7,NBPF9,NOTCH2,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PHGDH,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,REG4,RNF115,SEC22B,SRGAP2B,TXNIP,ZNF697 chr1 120048683 120066245 Gain and loss Pancreatic cancer SNP array 17952125 HSD3B1 chr1 120056032 120088361 Gain Breast cancer - 21760589 HSD3B1 chr1 120056033 120088359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSD3B1 chr1 120056033 120088359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD3B1 chr1 120065684 120415520 Insert Cancer ultra-high resolution array CGH 21272361 HMGCS2,HSD3BP4,LINC00622,NBPF7,PHGDH,REG4,ZNF697 chr1 12006656 12006768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLOD1 chr1 120076551 121186686 LOH Normal High-resolution SNP genotyping 21211785 ADAM30,FAM72B,FCGR1B,HIST2H2BA,HMGCS2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr11 20078501 20111000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NAV2 chr1 120080653 120080753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 120081818 121186686 LOH Normal High-resolution SNP genotyping 21211785 ADAM30,FAM72B,FCGR1B,HIST2H2BA,HMGCS2,HSD3BP4,LINC00622,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr11 20088737 20088837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV2 chr1 120090666 120099415 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 120092528 120113041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSD3BP4 chr1 120092528 120113041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD3BP4 chr1 120100879 120324318 Gain and loss Pancreatic cancer SNP array 17952125 HMGCS2,HSD3BP4,LINC00622,PHGDH,ZNF697 chr1 120108040 120108413 Gain and loss Pancreatic cancer SNP array 17952125 HSD3BP4 chr1 120133979 120134051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 20134001 20140000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NAV2 chr11 20134336 20138446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAV2 chr11 20134336 20138446 Gain and loss Pancreatic cancer SNP array 17952125 NAV2 chr11 20134336 20138446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV2 chr1 12013789 12026366 Gain and loss Pancreatic cancer SNP array 17952125 PLOD1 chr1 120138164 120155726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00622 chr1 120138164 120155726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00622 chr11 201447 1282405 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANO9,AP2A2,ATHL1,B4GALNT4,BET1L,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,MUC2,MUC5B,MUC6,NLRP6,NS3BP,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 chr11 201447 58173418 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,ANO9,AP2A2,APBB1,API5,APIP,APLNR,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ART1,ART5,ASCL2,ASCL3,ATG13,ATHL1,B4GALNT4,BBOX1,BDNF,BDNF-AS,BET1L,BRSK2,BTBD10,BTBD18,C11orf16,C11orf21,C11orf31,C11orf35,C11orf40,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CARS,CAT,CCDC34,CCDC73,CCKBR,CD151,CD44,CD59,CD81,CD82,CDHR5,CDKN1C,CELF1,CEND1,CHID1,CHRM4,CHRNA10,CHST1,CKAP5,CLP1,CNGA4,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTNND1,CTR9,CTSD,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DEAF1,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DRD4,DUSP8,E2F8,EFCAB4A,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EPS8L2,EXT2,F2,FAM160A2,FAM180B,FAM99A,FAM99B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GTF2H1,GVINP1,GYLTL1B,H19,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HIPK3,HNRNPKP3,HPS5,HPX,HRAS,HSD17B12,HTATIP2,IFITM1,IFITM10,IFITM2,IFITM3,IFITM5,IGF2,IGF2-AS,IGSF22,ILK,IMMP1L,INS,INS-IGF2,INSC,IPO7,IRF7,KBTBD4,KCNA4,KCNC1,KCNJ11,KCNQ1,KCNQ1DN,KCNQ1OT1,KIAA1549L,KIF18A,KRT8P41,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100500938,LOC100506082,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC143666,LOC221122,LOC255512,LOC283299,LOC338651,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC650368,LOC729013,LRP4,LRP4-AS1,LRRC4C,LRRC55,LRRC56,LSP1,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,MED19,METTL15,MICAL2,MICALCL,MIR129-2,MIR130A,MIR1343,MIR210,MIR210HG,MIR3160-1,MIR3160-2,MIR3973,MIR4298,MIR4299,MIR4485,MIR4486,MIR4686,MIR4687,MIR4688,MIR4694,MIR483,MIR5582,MIR5691,MIR610,MIR670,MIR675,MMP26,MOB2,MPPED2,MRGPRE,MRGPRG,MRGPRG-AS1,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL17,MRPL23,MRPL23-AS1,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MUC2,MUC5B,MUC6,MYBPC3,MYOD1,NAP1L4,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NLRP6,NR1H3,NRIP3,NS3BP,NUCB2,NUP160,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10Q1,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5AK2,OR5AK4P,OR5AP2,OR5AR1,OR5AS1,OR5B17,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6Q1,OR7E12P,OR7E14P,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBPL5,OVCH2,P2RX3,PACSIN3,PAMR1,PARVA,PAX6,PDDC1,PDE3B,PDHX,PEX16,PGAP2,PHF21A,PHLDA2,PHRF1,PIDD,PIK3C2A,PKP3,PLEKHA7,PNPLA2,POLR2L,PPFIBP2,PRDM11,PRG2,PRG3,PRKCDBP,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PSMD13,PTDSS2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RASSF7,RBMXL2,RCN1,RHOG,RIC3,RIC8A,RNF141,RNH1,RPL27A,RPLP2,RPS13,RRAS2,RRM1,RRP8,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCT,SCUBE2,SEC14L1P1,SERGEF,SERPING1,SIGIRR,SIRT3,SLC17A6,SLC1A2,SLC22A18,SLC22A18AS,SLC25A22,SLC35C1,SLC39A13,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SMPD1,SMTNL1,SNORA23,SNORA3,SNORA45,SNORA52,SNORA54,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,SSRP1,ST5,STIM1,STK33,SVIP,SWAP70,SYT13,SYT8,SYT9,TAF10,TALDO1,TCP11L1,TEAD1,TH,TIMM10,TMEM41B,TMEM80,TMEM86A,TMEM9B,TMX2,TMX2-CTNND1,TNKS1BP1,TNNI2,TNNT3,TOLLIP,TP53I11,TPH1,TPP1,TRAF6,TRIM21,TRIM22,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49B,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM6,TRIM6-TRIM34,TRIM64C,TRIM66,TRIM68,TRPC2,TRPM5,TSG101,TSPAN18,TSPAN32,TSPAN4,TSSC4,TTC17,TUB,UBE2L6,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,YPEL4,ZBED5,ZDHHC13,ZDHHC5,ZNF143,ZNF195,ZNF214,ZNF215,ZNF408 chr1 120148629 120151001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 20152278 20152403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 120163102 120195177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF697 chr1 120167524 120167607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF697 chr11 20176673 20176773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 120177042 120177142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF697 chr1 120178911 120189302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF697 chr1 120178911 120189302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF697 chr1 120181092 120290703 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGCS2,PHGDH,ZNF697 chr1 120181092 120395759 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGCS2,NBPF7,PHGDH,REG4,ZNF697 chr1 120181092 120409198 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGCS2,NBPF7,PHGDH,REG4,ZNF697 chr1 120181092 120409198 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGCS2,NBPF7,PHGDH,REG4,ZNF697 chr1 120181092 120794484 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADAM30,HMGCS2,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr1 120181092 120958392 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADAM30,FAM72B,FCGR1B,HIST2H2BA,HMGCS2,NBPF7,NOTCH2,PHGDH,REG4,ZNF697 chr1 12018336 12018447 Gain and loss Pancreatic cancer SNP array 17952125 PLOD1 chr1 12018337 12018447 Gain and loss Pancreatic cancer SNP array 17952125 PLOD1 chr1 12019384 12019654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLOD1 chr1 120197462 120197888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2020501 2048500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 2021347 2048176 Loss Normal 244K array 17666407 NOT_FOUND chr1 120214296 120390114 Gain Stenocardia MACArray Karyo 6K BAC-chips 21860640 HMGCS2,NBPF7,PHGDH,REG4 chr1 120214296 120390114 Gain Vasospasm MACArray Karyo 6K BAC-chips 21860640 HMGCS2,NBPF7,PHGDH,REG4 chr1 120230450 120231073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 120231205 120231305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 120235683 147296355 Substitutions and indels small cell lung cancer array-CGH 20016488 ACP6,ADAM30,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,EMBP1,FAM72B,FAM72D,FCGR1B,FLJ39739,FMO5,GJA5,GNRHR2,GPR89A,GPR89C,HFE2,HIST2H2BA,HMGCS2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF7,NBPF9,NOTCH2,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PHGDH,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,REG4,RNF115,SEC22B,SRGAP2B,TXNIP chr1 120237679 120240641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 120237679 120240641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 120245520 120395759 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGCS2,NBPF7,PHGDH,REG4 chr1 120245520 120409198 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255698 120413799 Copy number Lung cancer - 20668451 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255698 120413799 Gain or loss Breast cancer - 20668451 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255698 120413799 Gain or loss Cancer - 20668451 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255698 120413799 Gain or loss Lung cancer - 20668451 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255698 120413799 Gain or loss Ovarian cancer - 20668451 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255698 120413799 Gain or loss Pancreas cancer - 20668451 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255698 120413799 Gain or loss Prostate cancer - 20668451 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255701 120413799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255701 120413799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGCS2,NBPF7,PHGDH,REG4 chr1 120255916 120256167 Gain and loss Pancreatic cancer SNP array 17952125 PHGDH chr1 120265565 120265634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHGDH chr1 120279743 120279813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHGDH chr1 120284862 120284962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHGDH chr1 120307631 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,EMBP1,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72B,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HMGCS2,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 120310047 203322572 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABL2,ACBD6,ACP6,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP6V1G3,ATP8B2,AXDND1,B3GALT2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf98,C2CD4D,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMSAP2,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CDC73,CELF3,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ELF3,EMBP1,ENSA,ETV3,ETV3L,F11R,F13B,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM72B,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HMGCS2,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IPO9,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KCNT2,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LGR6,LHX4,LHX9,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148709,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR181A1,MIR181B1,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEK7,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PRCC,PRDX6,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,REG4,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,SYT2,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCO1,TMEM183A,TMEM183B,TMEM79,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB41,ZBTB7B,ZNF281,ZNF648,ZNF687 chr1 12031063 12031333 Gain and loss Pancreatic cancer SNP array 17952125 PLOD1 chr11 20324779 20360007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 120328079 120328169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 120328470 120498601 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ADAM30,NBPF7,NOTCH2,REG4 chr11 20341865 20361905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 20341865 20361905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 20341924 20361904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 20342262 20345776 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr1 120344114 120344177 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 REG4 chr11 20344537 20344637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 120345397 120345648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 REG4 chr11 20345587 20936851 LOH Normal High-resolution SNP genotyping 21211785 HTATIP2,NELL1,PRMT3,SLC6A5 chr1 120355848 120355907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 120357104 120525002 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ADAM30,NBPF7,NOTCH2 chr1 120358723 120358823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 20365678 20487349 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 HTATIP2,PRMT3 chr11 20365679 20487349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HTATIP2,PRMT3 chr11 20365679 20487349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTATIP2,PRMT3 chr11 20365682 20487404 Gain and loss Pancreatic cancer SNP array 17952125 HTATIP2,PRMT3 chr11 20381142 20381211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 120381605 120381704 Gain and loss Pancreatic cancer SNP array 17952125 NBPF7 chr1 120381606 120381704 Gain and loss Pancreatic cancer SNP array 17952125 NBPF7 chr1 120390109 120485103 Gain aortic dissecting aneurysms Array-CGH 22263138 ADAM30,NOTCH2 chr1 120390109 120485103 Gain Stenocardia MACArray Karyo 5K BAC-chips 21860640 ADAM30,NOTCH2 chr1 120390109 120485103 Gain Vasospasm MACArray Karyo 5K BAC-chips 21860640 ADAM30,NOTCH2 chr11 20393629 20393708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HTATIP2 chr1 120412088 120412188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 20425536 20425636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT3 chr11 20426462 20426562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT3 chr1 1204310 1217267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCNN1D,UBE2J2 chr1 1204310 1217267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCNN1D,UBE2J2 chr1 120437237 120490996 Duplication Schizophrenia NimbleGen HD2 platform 21346763 ADAM30,NOTCH2 chr11 2043796 2201921 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 IGF2,IGF2-AS,INS,INS-IGF2,MIR4686,MIR483,TH chr1 12043805 12043905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MFN2 chr1 120450000 121350000 Gain Breast cancer aCGH 21509527 EMBP1,FAM72B,FCGR1B,HIST2H2BA,NOTCH2 chr1 12046021 12126851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MFN2,MIIP,TNFRSF8 chr1 12046021 12126851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFN2,MIIP,TNFRSF8 chr1 120471085 120471185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOTCH2 chr1 120475043 121186686 LOH Normal High-resolution SNP genotyping 21211785 FAM72B,FCGR1B,HIST2H2BA,NOTCH2 chr1 12048478 12048513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MFN2 chr11 2048501 2123000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 20488134 20488234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT3 chr11 205031 226362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BET1L,RIC8A,SIRT3 chr11 205031 226362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BET1L,RIC8A,SIRT3 chr11 20525754 20527754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRMT3 chr1 120530790 120530993 Gain and loss Pancreatic cancer SNP array 17952125 NOTCH2 chr1 120540781 120541055 Gain and loss Pancreatic cancer SNP array 17952125 NOTCH2 chr1 120551454 120567648 Gain and loss Pancreatic cancer SNP array 17952125 NOTCH2 chr1 120557209 120738188 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOTCH2 chr1 12057700 12138528 Gain and loss Pancreatic cancer SNP array 17952125 MFN2,MIIP,TNFRSF8 chr11 20577520 20633041 Gain and loss Pancreatic cancer SNP array 17952125 SLC6A5 chr11 20577522 20633186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC6A5 chr11 20577522 20633186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC6A5 chr11 2058243 2058343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 120598064 121186686 LOH Normal High-resolution SNP genotyping 21211785 FAM72B,FCGR1B,HIST2H2BA,NOTCH2 chr1 120600000 156500000 Amplification Esophageal squamous carcinoma CGH 18350619 ACP6,ADAM15,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCL9,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CCT3,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DAP3,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,EMBP1,ENSA,FAM189B,FAM63A,FAM72B,FAM72D,FAM91A2,FCGR1A,FCGR1B,FCGR1C,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPR89A,GPR89B,GPR89C,HAX1,HCN3,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,IQGAP3,ITGA10,IVL,JTB,KCNN3,KIAA0907,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100130000,LOC100132111,LOC100286793,LOC100505666,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MIR555,MIR9-1,MIR92B,MLLT11,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PAQR6,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RBM8A,RFX5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPRD2,RPS27,RPTN,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TUFT1,TXNIP,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 1206001 1239500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAP3,SCNN1D,UBE2J2 chr1 120600563 120634912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOTCH2 chr1 12060525 12060628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFN2 chr11 20610903 20655729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC6A5 chr11 20613769 20658213 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC6A5 chr1 120616717 120617132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 120620271 120620474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 20622022 20622122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A5 chr11 20623 21817 Copy number Autism exome sequencing 22495311 NOT_FOUND chr1 12062895 12063192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFN2 chr1 120632019 121186686 LOH Normal High-resolution SNP genotyping 21211785 FAM72B,FCGR1B,HIST2H2BA chr11 20637214 20637314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A5 chr1 120638912 120639295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 120639179 120647936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 120640526 120657204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 20647693 21553803 Gain and loss Pancreatic cancer SNP array 17952125 NELL1,SLC6A5 chr11 20647712 21553576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NELL1,SLC6A5 chr11 20647712 21553576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NELL1,SLC6A5 chr11 20653569 20653669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A5 chr1 12066421 12066521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MFN2 chr1 120682406 120682795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 20696840 20743132 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NELL1 chr1 120700000 121100000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 FAM72B,FCGR1B,HIST2H2BA chr1 120700000 169100000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,B4GALT3,BCAN,BCL9,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,EMBP1,ENSA,ETV3,ETV3L,F11R,FAM189B,FAM63A,FAM72B,FAM72D,FAM78B,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,FMO9P,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPA33,GPATCH4,GPR161,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,MEX3A,MGST3,MIR190B,MIR3658,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NOTCH2NL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RBM8A,RCSD1,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUMO1P3,SV2A,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,YY1AP1,ZBTB7B,ZNF687 chr1 120700000 184000000 Gain Non-small cell lung cancer dChip 21829676 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf220,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,EMBP1,ENSA,ETV3,ETV3L,F11R,F5,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM72B,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 120706198 120706613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 120707519 120708498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12072204 12072307 Gain and loss Pancreatic cancer SNP array 17952125 MFN2 chr1 12072206 12072307 Gain and loss Pancreatic cancer SNP array 17952125 MFN2 chr1 120725501 120727500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 20726897 20727300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NELL1 chr1 120727862 120743193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 120728503 120737446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 20737378 20737478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr11 2075395 2075427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 20755575 38582912 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABTB2,ANO3,ANO5,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf74,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FANCF,FBXO3,FIBIN,FJX1,FSHB,GAS2,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100500938,LOC338739,LUZP2,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,NELL1,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC17A6,SLC1A2,SLC5A12,SVIP,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS chr1 1207568 1210341 Copy number Autism Illumina Humanhap300 Beadchips 19492091 UBE2J2 chr1 1207568 1210341 Gain and loss Pancreatic cancer SNP array 17952125 UBE2J2 chr11 20797302 22458022 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANO5,NELL1,SLC17A6 chr11 20801131 20806523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NELL1 chr11 20801428 20806334 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NELL1 chr1 1208039 1208999 Loss Normal 244K array 17666407 UBE2J2 chr1 120808677 120832672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 208394 275937 Loss Normal 244K array 17666407 PSMD13,RIC8A,SIRT3 chr1 120857051 121057405 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FCGR1B,HIST2H2BA chr1 120870371 121045604 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FCGR1B,HIST2H2BA chr11 20873097 20873436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NELL1 chr11 20935188 21939670 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NELL1 chr1 120945665 120947214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 120961845 141468205 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 EMBP1 chr1 120962666 121012114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 120967 123786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 20979001 20979089 Gain and loss Pancreatic cancer SNP array 17952125 NELL1 chr11 20979003 20979119 Gain and loss Pancreatic cancer SNP array 17952125 NELL1 chr11 20979003 20979119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NELL1 chr1 120982663 144003083 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ANKRD20A12P,EMBP1,FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr11 20995557 21040521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NELL1 chr11 21000000 57000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 ABTB2,ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ANO3,ANO5,API5,APIP,ARFGAP2,ARHGAP1,ARL14EP,ATG13,BBOX1,BDNF,BDNF-AS,C11orf49,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CD82,CELF1,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSTF3,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FAM180B,FANCF,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,GAS2,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HSD17B12,IMMP1L,KBTBD4,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100500938,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,LRRC4C,LRRC55,LUZP2,MADD,MAPK8IP1,MDK,METTL15,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4688,MIR5582,MIR610,MIR670,MPPED2,MTCH2,MUC15,MYBPC3,NAT10,NDUFS3,NELL1,NR1H3,NUP160,OR10AG1,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5AK2,OR5AK4P,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,PACSIN3,PAMR1,PAX6,PDHX,PEX16,PHF21A,PRDM11,PRR5L,PRRG4,PSMC3,PTPMT1,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RCN1,SEC14L1P1,SLC17A6,SLC1A2,SLC35C1,SLC39A13,SLC5A12,SNORD67,SPI1,SVIP,SYT13,TCP11L1,TP53I11,TRAF6,TRIM44,TRIM48,TRIM49B,TRIM51,TRIM51GP,TRIM51HP,TRIM64C,TSPAN18,TTC17,WT1,WT1-AS,ZNF408 chr11 21022800 21022900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr11 21031495 21031583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr1 121051725 121186686 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 121053001 121062000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 121057324 121064843 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 121062001 121180000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 121068948 121075389 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr11 2106918 2127409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2106918 2127409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2107189 2107530 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 121086434 121088468 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr11 2110007 2110399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2110364 2125616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2111940 2112015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2111940 2112015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12112619 12112719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 21143685 21172425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NELL1 chr1 121180000 143540000 Loss Breast cancer aCGH 21509527 ANKRD20A12P,EMBP1 chr1 121180001 121185500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 2118313 2126470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2118313 2126470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2118323 2126470 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 121185501 121186750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 121185848 121186529 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 121186403 121186812 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 1 212100000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 AADACL3,AADACL4,ABCA4,ABCD3,ABL2,ACADM,ACAP3,ACBD6,ACOT11,ACOT7,ACP6,ACTG1P4,ACTL8,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANKRD65,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARL8A,ARNT,ARPC5,ARTN,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATAD3A,ATAD3B,ATAD3C,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,AVPR1B,AXDND1,B3GALT2,B3GALT6,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf116,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf228,C1orf233,C1orf27,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf74,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CALML6,CAMK1G,CAMK2N1,CAMSAP2,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK11A,CDK11B,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPL,CEP104,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHD5,CHI3L1,CHI3L2,CHIA,CHIT1,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,CNTN2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,CPSF3L,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX11L1,DDX20,DDX59,DEDD,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIEXF,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DSTYK,DUSP12,DUSP23,DUSP27,DVL1,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDEM3,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,ETNK2,ETV3,ETV3L,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GABRD,GADD45A,GALE,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLRX2,GLT25D2,GLTPD1,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR153,GPR157,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFE2,HFM1,HHAT,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF6,ISG15,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,IVNS1ABP,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNN3,KCNQ4,KCNT2,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1614,KIAA1751,KIAA2013,KIF14,KIF17,KIF1B,KIF21B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL17,KLHL20,KLHL21,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGR6,LHX4,LHX8,LHX9,LIN28A,LINC00115,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130417,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132062,LOC100132111,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC148413,LOC148696,LOC148709,LOC149086,LOC254099,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643837,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MAPKAPK2,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MFSD4,MGC27382,MGST3,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR181A1,MIR181B1,MIR186,MIR190B,MIR197,MIR1976,MIR199A2,MIR200A,MIR200B,MIR205,MIR205HG,MIR214,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR320B1,MIR34A,MIR3605,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4632,MIR4654,MIR4684,MIR4689,MIR4695,MIR4711,MIR4735,MIR4781,MIR4794,MIR488,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MMP23A,MMP23B,MNDA,MOB3C,MORN1,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL20,MRPL24,MRPL37,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTX1,MUC1,MUL1,MUTYH,MXRA8,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NADK,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOC2L,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR4F16,OR4F29,OR4F3,OR4F5,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARS2,PAX7,PBX1,PBXIP1,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFKFB2,PFN1P2,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLEKHA6,PLEKHG5,PLEKHM2,PLEKHN1,PLEKHO1,PLK3,PLOD1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PUSL1,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB42,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RER1,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF19B,RNF2,RNF207,RNF220,RNF223,RNPC3,RNPEP,RNU11,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCNN1D,SCP2,SCYL3,SDC3,SDF4,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A1,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPSB1,SPTA1,SRG7,SRGAP2,SRGAP2B,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAGLN2,TAL1,TARDBP,TARS2,TAS1R1,TAS1R2,TAS1R3,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM81,TMEM82,TMEM88B,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2J2,UBE2Q1,UBE2T,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 2121865 2121947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 2123001 2195500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGF2,IGF2-AS,INS,INS-IGF2,MIR4686,MIR483,TH chr11 2124432 2139027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2124432 2139027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12126165 12126349 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TNFRSF8 chr11 2126350 2197791 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 IGF2,IGF2-AS,INS,INS-IGF2,MIR4686,MIR483,TH chr11 21301577 21301677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr11 2131627 2149611 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2131627 2149611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 21329761 21329834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr11 21344688 21344788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr11 21361954 21362031 Gain and loss Pancreatic cancer SNP array 17952125 NELL1 chr11 21361954 21362031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NELL1 chr11 2137584 2139015 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 2137584 2139015 Gain or loss Cancer - 20668451 NOT_FOUND chr11 2137584 2139015 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 2137584 2139015 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 2137584 2139015 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 2137584 2139015 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 2137588 2139015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 213787 214002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RIC8A chr11 21379596 21382057 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NELL1 chr11 213797 213940 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RIC8A chr11 2141734 2149611 Deletion Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 NOT_FOUND chr11 2141736 2149611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 21427700 21427800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr1 12144001 12192500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TNFRSF8 chr11 214495 246679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMD13,RIC8A,SIRT3 chr11 21450851 21450951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr11 21480598 21480683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr1 121485028 121485128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 21492808 21492860 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NELL1 chr1 12149646 12191864 Duplication Normal References 22138850 TNFRSF8 chr1 12149647 12191863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF8 chr1 12149647 12191863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF8 chr11 21507059 21507144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL1 chr11 2155615 2155848 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IGF2,INS-IGF2 chr1 1215815 1227409 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 SCNN1D chr11 21582716 21867126 Copy number Lung cancer paired-end sequencing 18438408 NELL1 chr11 21600000 26000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANO5,FANCF,GAS2,LOC100500938,LUZP2,SLC17A6,SVIP chr11 21600000 26000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANO5,FANCF,GAS2,LOC100500938,LUZP2,SLC17A6,SVIP chr11 21600000 36400000 Deletion Potocki-Shaffer syndrome FISH and MLPA analyses 19222835 ABTB2,ANO3,ANO5,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FANCF,FBXO3,FIBIN,FJX1,FSHB,GAS2,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100500938,LOC338739,LUZP2,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC17A6,SLC1A2,SLC5A12,SVIP,TCP11L1,TRIM44,WT1,WT1-AS chr11 21600000 36400000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABTB2,ANO3,ANO5,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FANCF,FBXO3,FIBIN,FJX1,FSHB,GAS2,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100500938,LOC338739,LUZP2,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC17A6,SLC1A2,SLC5A12,SVIP,TCP11L1,TRIM44,WT1,WT1-AS chr11 21600000 43400000 Deletion WAGR syndrome FISH and MLPA analyses 19222835 ABTB2,ANO3,ANO5,API5,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf74,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FANCF,FBXO3,FIBIN,FJX1,FSHB,GAS2,HIPK3,HNRNPKP3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100500938,LOC100507205,LOC338739,LRRC4C,LUZP2,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC17A6,SLC1A2,SLC5A12,SVIP,TCP11L1,TRAF6,TRIM44,TTC17,WT1,WT1-AS chr11 21600000 48800000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABTB2,ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ANO3,ANO5,API5,APIP,ARFGAP2,ARHGAP1,ARL14EP,ATG13,BBOX1,BDNF,BDNF-AS,C11orf49,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CD82,CELF1,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSTF3,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FAM180B,FANCF,FBXO3,FIBIN,FJX1,FNBP4,FSHB,GAS2,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HSD17B12,IMMP1L,KBTBD4,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100500938,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LRP4,LRP4-AS1,LRRC4C,LUZP2,MADD,MAPK8IP1,MDK,METTL15,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4688,MIR5582,MIR610,MIR670,MPPED2,MTCH2,MUC15,MYBPC3,NAT10,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PAMR1,PAX6,PDHX,PEX16,PHF21A,PRDM11,PRR5L,PRRG4,PSMC3,PTPMT1,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RCN1,SEC14L1P1,SLC17A6,SLC1A2,SLC35C1,SLC39A13,SLC5A12,SNORD67,SPI1,SVIP,SYT13,TCP11L1,TP53I11,TRAF6,TRIM44,TSPAN18,TTC17,WT1,WT1-AS,ZNF408 chr1 12161326 12203542 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF8 chr11 2166592 2166692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGF2,IGF2-AS,INS-IGF2 chr11 21670000 22250000 Copy number Cognitive impairment - 21505072 ANO5 chr11 21676807 21707314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 21679526 21680047 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 21685598 21685651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 21700000 22300000 Copy number Cognitive impairment - 21505072 ANO5 chr11 21700000 48800000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABTB2,ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ANO3,ANO5,API5,APIP,ARFGAP2,ARHGAP1,ARL14EP,ATG13,BBOX1,BDNF,BDNF-AS,C11orf49,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CD82,CELF1,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSTF3,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FAM180B,FANCF,FBXO3,FIBIN,FJX1,FNBP4,FSHB,GAS2,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HSD17B12,IMMP1L,KBTBD4,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100500938,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LRP4,LRP4-AS1,LRRC4C,LUZP2,MADD,MAPK8IP1,MDK,METTL15,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4688,MIR5582,MIR610,MIR670,MPPED2,MTCH2,MUC15,MYBPC3,NAT10,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PAMR1,PAX6,PDHX,PEX16,PHF21A,PRDM11,PRR5L,PRRG4,PSMC3,PTPMT1,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RCN1,SEC14L1P1,SLC17A6,SLC1A2,SLC35C1,SLC39A13,SLC5A12,SNORD67,SPI1,SVIP,SYT13,TCP11L1,TP53I11,TRAF6,TRIM44,TSPAN18,TTC17,WT1,WT1-AS,ZNF408 chr11 21703096 26791696 Duplication Autism Array CGH 22102821 ANO3,ANO5,FANCF,GAS2,LOC100500938,LUZP2,MUC15,SLC17A6,SLC5A12,SVIP chr11 2171935 2172022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INS-IGF2 chr11 2171954 2172163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INS-IGF2 chr11 21745647 21745707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 2174804 2174974 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INS-IGF2 chr1 1217633 1233132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAP3,SCNN1D chr1 1217633 1233132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAP3,SCNN1D chr1 1217851 1221993 Gain and loss Pancreatic cancer SNP array 17952125 SCNN1D chr11 21803848 21805954 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 21818208 21818308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 21832883 21832956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 218741 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 DDX11L1,FAM138A,FAM138F,LOC729737,OR4F5,WASH7P chr11 21881371 23784566 Copy number Lung cancer paired-end sequencing 18438408 ANO5,FANCF,GAS2,LOC100500938,SLC17A6,SVIP chr11 2189258 2189358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TH chr11 21908558 21908708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12192501 12214000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TNFRSF8 chr11 21967052 21967120 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 21973754 22024112 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 2197641 2197741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 21995101 35373600 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ABTB2,ANO3,ANO5,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FANCF,FBXO3,FIBIN,FSHB,GAS2,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LGR4,LIN7C,LINC00294,LMO2,LOC100500938,LOC338739,LUZP2,METTL15,MIR1343,MIR610,MPPED2,MUC15,NAT10,PAX6,PDHX,PRRG4,QSER1,RCN1,SLC17A6,SLC1A2,SLC5A12,SVIP,TCP11L1,WT1,WT1-AS chr1 12202258 12202358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNFRSF8 chr11 2202698 2202781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2202698 2202817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 12203436 12203753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF8 chr1 12203436 12203753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF8 chr1 12212699 12494685 Duplication Normal References 22138850 MIR4632,TNFRSF1B,VPS13D chr1 12212699 12494685 Indels Malaria PCR,Delta Delta Ct 21533027 MIR4632,TNFRSF1B,VPS13D chr1 12212700 12494686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4632,TNFRSF1B,VPS13D chr1 12212700 12494686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4632,TNFRSF1B,VPS13D chr11 22144983 22179538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 12215471 12215596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 22160436 22160536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 22171298 22261476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO5 chr11 22171298 22261476 Gain and loss Pancreatic cancer SNP array 17952125 ANO5 chr11 22171298 22261476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO5 chr11 22185019 22185094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 22200000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AURKAIP1,B3GALT6,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CCDC27,CCNL2,CDA,CDK11A,CDK11B,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,ESPNP,EXOSC10,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,HNRNPCL1,HP1BP3,HSPB7,HSPG2,HTR6,ICMT,IFFO2,IGSF21,ISG15,KAZN,KCNAB2,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC115110,LOC148413,LOC254099,LOC284661,LOC339505,LOC440563,LOC643837,LOC649330,LOC728716,LOC729737,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR200A,MIR200B,MIR34A,MIR3675,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,NADK,NBL1,NBPF1,NBPF3,NECAP2,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PANK4,PARK7,PAX7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCC2,RER1,RERE,RNF186,RNF207,RNF223,RPL22,RSC1A1,RSG1,SAMD11,SCNN1D,SDF4,SDHB,SH2D5,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SSU72,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,THAP3,TMCO4,TMEM201,TMEM240,TMEM51,TMEM52,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASH7P,WRAP73,ZBTB17,ZBTB48 chr1 1 22200000 Loss Chordoma Array CGH 21602918 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AURKAIP1,B3GALT6,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CCDC27,CCNL2,CDA,CDK11A,CDK11B,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,ESPNP,EXOSC10,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,HNRNPCL1,HP1BP3,HSPB7,HSPG2,HTR6,ICMT,IFFO2,IGSF21,ISG15,KAZN,KCNAB2,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC115110,LOC148413,LOC254099,LOC284661,LOC339505,LOC440563,LOC643837,LOC649330,LOC728716,LOC729737,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR200A,MIR200B,MIR34A,MIR3675,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,NADK,NBL1,NBPF1,NBPF3,NECAP2,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PANK4,PARK7,PAX7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCC2,RER1,RERE,RNF186,RNF207,RNF223,RPL22,RSC1A1,RSG1,SAMD11,SCNN1D,SDF4,SDHB,SH2D5,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SSU72,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,THAP3,TMCO4,TMEM201,TMEM240,TMEM51,TMEM52,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASH7P,WRAP73,ZBTB17,ZBTB48 chr1 1 222100000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 AADACL3,AADACL4,ABCA4,ABCD3,ABL2,ACADM,ACAP3,ACBD6,ACOT11,ACOT7,ACP6,ACTG1P4,ACTL8,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANKRD65,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARL8A,ARNT,ARPC5,ARTN,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATAD3A,ATAD3B,ATAD3C,ATF3,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,AURKAPS1,AVPR1B,AXDND1,B3GALT2,B3GALT6,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf140,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf233,C1orf27,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf74,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CALML6,CAMK1G,CAMK2N1,CAMSAP2,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK11A,CDK11B,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPF,CENPL,CEP104,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHD5,CHI3L1,CHI3L2,CHIA,CHIT1,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,CNTN2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,CPSF3L,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX11L1,DDX20,DDX59,DEDD,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIEXF,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DVL1,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDEM3,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GABRD,GADD45A,GALE,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLRX2,GLT25D2,GLTPD1,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR153,GPR157,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFE2,HFM1,HHAT,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,IARS2,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF6,ISG15,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,IVNS1ABP,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1614,KIAA1751,KIAA2013,KIF14,KIF17,KIF1B,KIF21B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL17,KLHL20,KLHL21,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGR6,LHX4,LHX8,LHX9,LIN28A,LINC00115,LINC00210,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00538,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130417,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132062,LOC100132111,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC148413,LOC148696,LOC148709,LOC149086,LOC254099,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC643837,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728463,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MFSD4,MGC27382,MGST3,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR200A,MIR200B,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR320B1,MIR34A,MIR3605,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4632,MIR4654,MIR4684,MIR4689,MIR4695,MIR4711,MIR4735,MIR4781,MIR4794,MIR488,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MMP23A,MMP23B,MNDA,MOB3C,MORN1,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL20,MRPL24,MRPL37,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTX1,MUC1,MUL1,MUTYH,MXRA8,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NADK,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOC2L,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR4F16,OR4F29,OR4F3,OR4F5,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARS2,PAX7,PBX1,PBXIP1,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFKFB2,PFN1P2,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLEKHA6,PLEKHG5,PLEKHM2,PLEKHN1,PLEKHO1,PLK3,PLOD1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PUSL1,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RER1,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF19B,RNF2,RNF207,RNF220,RNF223,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCNN1D,SCP2,SCYL3,SDC3,SDF4,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A1,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SMYD2,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPSB1,SPTA1,SRG7,SRGAP2,SRGAP2B,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAGLN2,TAL1,TARDBP,TARS2,TAS1R1,TAS1R2,TAS1R3,TATDN3,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFB2,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM201,TMEM206,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM81,TMEM82,TMEM88B,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2J2,UBE2Q1,UBE2T,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 22232079 25091772 Deletion Intellectual disability Array CGH 22102821 ANO5,FANCF,GAS2,LOC100500938,LUZP2,SLC17A6,SVIP chr11 2223517 3006070 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ASCL2,C11orf21,CD81,CDKN1C,KCNQ1,KCNQ1DN,KCNQ1OT1,NAP1L4,PHLDA2,SLC22A18,SLC22A18AS,SNORA54,TRPM5,TSPAN32,TSSC4 chr11 222718 403170 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATHL1,B4GALNT4,IFITM1,IFITM2,IFITM3,IFITM5,NLRP6,PKP3,PSMD13,SIRT3 chr1 12228510 12504681 Gain and loss Pancreatic cancer SNP array 17952125 MIR4632,TNFRSF1B,VPS13D chr11 22300731 23639078 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANO5,FANCF,GAS2,LOC100500938,SLC17A6,SVIP chr11 22316242 22357620 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 22316243 22357619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 22316243 22357619 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 22316243 22357619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2234501 2251000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 22370000 24740000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 FANCF,GAS2,LOC100500938,LUZP2,SLC17A6,SVIP chr11 22390453 22390568 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC17A6 chr11 22418034 22461828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 22427455 22429341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 22427471 22429361 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 2246305 2248758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2246305 2248758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2246305 2248758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1225501 1301579 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACAP3,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,SCNN1D,TAS1R3 chr11 22573477 22573535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 22600654 22603963 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 22600654 22603963 Gain or loss Cancer - 20668451 NOT_FOUND chr11 22600654 22603963 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 22600654 22603963 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 22600654 22603963 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 22600654 22603963 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 22602808 22603932 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 22602808 22603932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 22608917 22611682 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 22631456 22943614 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 FANCF,GAS2,LOC100500938,SVIP chr11 22646230 22791113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FANCF,GAS2 chr11 22646230 22791113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FANCF,GAS2 chr11 22646230 22791122 Gain and loss Pancreatic cancer SNP array 17952125 FANCF,GAS2 chr11 22653981 22654081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 22665882 22665982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 22666473 22666562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 22666473 22666580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 22666473 22666580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 22681081 22681181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 226981 242981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMD13,SIRT3 chr11 226981 242981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD13,SIRT3 chr11 22707819 22707880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GAS2 chr11 22722880 22723276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAS2 chr11 2273446 2279868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2274001 2299000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASCL2 chr11 22754247 22754347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAS2 chr11 2277231 2279614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2279819 2296006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASCL2 chr11 2279819 2296006 Gain and loss Pancreatic cancer SNP array 17952125 ASCL2 chr11 2279819 2296006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASCL2 chr11 22798433 22807957 Gain and loss Pancreatic cancer SNP array 17952125 GAS2 chr11 22800176 22807958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAS2 chr11 22850700 24592114 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100500938,LUZP2,SVIP chr11 22876284 22876384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100500938 chr11 22913438 22913729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 1229217 1249157 Gain and loss Pancreatic cancer SNP array 17952125 ACAP3,CPSF3L,PUSL1 chr11 22943614 28761104 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANO3,BBOX1,BDNF,BDNF-AS,CCDC34,FIBIN,KIF18A,LGR4,LIN7C,LUZP2,METTL15,MIR610,MUC15,SLC5A12 chr11 22953449 22953513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1229896 1229955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACAP3 chr11 22990008 23003545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 2299001 2352500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf21,TSPAN32 chr11 2299524 2299633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2299524 2299633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1 2300000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Amplification Normal Refference 21823210 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Copy number Neuroblastoma QPCR 19686582 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Copy number Normal - 21701786 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Gastric cancer Array CGH 16891809 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Williams-beuren syndrome ABI Prism 7900HT sequence detection system 16971481 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Loss Disorders of sex development - 21048976 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Loss Honadal dysgenesis oligo V6.3 21048976 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr1 1 2300000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC643837,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P chr11 23003987 23004046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23051127 23051442 Gain Normal 244K array 17666407 NOT_FOUND chr11 2313114 2313555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2313118 2313555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2313118 2313555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 23135989 23178287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 1231507 1231556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACAP3 chr11 23195096 23195191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12326872 12371766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS13D chr11 23270526 23270601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 23270562 23270682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23284083 23284183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23286060 24116855 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr11 23316646 23342040 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 23358291 23358518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23358502 23358738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1233857 1236919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAP3 chr1 1233857 1236919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAP3 chr11 23444161 23444261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 123455376 139759491 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr11 23459261 24995116 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 LUZP2 chr11 23470058 23476861 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 23492318 23492418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 123500000 127400000 Copy number Hydrolethalus syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 NOT_FOUND chr11 2350444 2350554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2350444 2350555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2350444 2350556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 23522579 23522805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23522694 23522794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23522835 23522948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 2352501 2415500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD81 chr11 23528701 23528801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 23549970 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CCDC27,CCNL2,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,HNRNPCL1,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,IFFO2,IGSF21,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC115110,LOC148413,LOC254099,LOC284661,LOC339505,LOC440563,LOC643837,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LZIC,MAD2L2,MASP2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,NADK,NBL1,NBPF1,NBPF3,NECAP2,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PANK4,PARK7,PAX7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCC2,RER1,RERE,RNF186,RNF207,RNF223,RPL22,RSC1A1,RSG1,SAMD11,SCNN1D,SDF4,SDHB,SH2D5,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SSU72,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,THAP3,TMCO4,TMEM201,TMEM240,TMEM51,TMEM52,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASH7P,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48 chr11 2355123 2375225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2355123 2375225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2355316 2375202 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 12357789 12357889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS13D chr11 2358237 2358279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23618927 23618983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23642584 23643584 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr11 23657208 23657308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1236828 1249909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAP3,CPSF3L,PUSL1 chr1 1236828 1249909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAP3,CPSF3L,PUSL1 chr11 23686928 23687018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23701980 23702288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 23706415 23711347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 23767420 23771985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2378434 2381679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2378434 2381679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2378581 2381679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 23798828 23919578 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr11 23799067 23799969 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 23817319 23817462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 23822618 24688222 LOH Normal High-resolution SNP genotyping 21211785 LUZP2 chr11 2382336 2400851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD81 chr11 2382336 2400851 Gain and loss Pancreatic cancer SNP array 17952125 CD81 chr11 2382336 2400851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD81 chr11 23827897 23828000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 23827897 23828000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 23828923 23829023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23912682 23912841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 12391818 12391891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS13D chr11 23918619 23918717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1239243 1359795 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACAP3,ANKRD65,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,MRPL20,MXRA8,PUSL1,TAS1R3 chr11 23936151 23964221 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 1239501 1245500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAP3,PUSL1 chr11 2396530 2396567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 23978588 26127011 Copy number Lung cancer paired-end sequencing 18438408 LUZP2 chr11 2400000 5900000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ART1,ART5,C11orf40,CARS,CD81,CDKN1C,CHRNA10,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,KCNQ1,KCNQ1DN,KCNQ1OT1,LOC100506082,LOC650368,MIR4687,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,NAP1L4,NUP98,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B4,OR52B6,OR52D1,OR52E2,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR56B1,OR7E12P,OSBPL5,PGAP2,PHLDA2,RHOG,RRM1,SLC22A18,SLC22A18AS,SNORA54,STIM1,TRIM21,TRIM22,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM68,TRPC2,TRPM5,TSSC4,UBQLN3,UBQLNL,ZNF195 chr11 2402916 2402989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD81 chr11 24032403 43028261 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABTB2,ANO3,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf74,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FIBIN,FJX1,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100507205,LOC338739,LRRC4C,LUZP2,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,SLC5A12,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS chr1 12403497 12403570 Gain and loss Pancreatic cancer SNP array 17952125 VPS13D chr1 12404958 12450375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS13D chr11 24119299 24119331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 24129346 26517526 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANO3,LUZP2 chr11 2415501 2452500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD81,TRPM5,TSSC4 chr11 2422797 2826915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNQ1,KCNQ1OT1,TRPM5,TSSC4 chr11 2422797 2826915 Gain and loss Pancreatic cancer SNP array 17952125 KCNQ1,KCNQ1OT1,TRPM5,TSSC4 chr11 2422797 2826915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ1,KCNQ1OT1,TRPM5,TSSC4 chr1 12423428 12423498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VPS13D chr11 242364912 242392375 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr11 24241539 24244364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 24241827 24244810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 24242797 24271834 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 24286035 24286120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 24289025 24315509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 24290365 24304702 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 24291855 27359908 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANO3,BBOX1,FIBIN,LUZP2,MUC15,SLC5A12 chr1 124300000 128000000 In Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 NOT_FOUND chr1 124300000 128000000 In Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 NOT_FOUND chr1 124300000 142400000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 NOT_FOUND chr1 124300000 205300000 Amplification Carcinoma ex pleomorphic adenoma array-CGH 18828159 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AXDND1,B3GALT2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf98,C2CD4D,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMSAP2,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CDC73,CELF3,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNTN2,COPA,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DSTYK,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ELF3,ENSA,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IPO9,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KCNT2,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMC1,LAMC2,LAMTOR2,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LGR6,LHX4,LHX9,LINC00260,LINC00272,LINC00303,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148709,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LRRC52,LRRC71,LRRN2,LY9,LYSMD1,MAEL,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR181A1,MIR181B1,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK7,NES,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NTRK1,NUAK2,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RBBP5,RBM8A,RC3H1,RCSD1,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,SYT2,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687 chr1 124300000 247249719 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Amplification Non-small cell lung cancer Array comparative genomic hybridization 21044232 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Arm Cervical cancer array CGH 21063398 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Copy number Cancer ICA method 16751803 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Duplication Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Astrocytoma CGH 17387387 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Breast cancer Affymetrix GeneChip Mapping 101K Array Set 20632083 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Ewing's sarcoma CGH(Reference) 21437220 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Ewing's sarcoma Karyotyping and CGH(Reference) 21437220 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Gastrointestinal stromal cancer CGH 20470368 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Glioblastoma multiforme aCGH 21080181 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Glioblastoma multiforme CGH 19960244 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Glioblastoma multiforme conventional CGH 21080181 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Hepatocellular carcinoma CGH 22174799 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Medulloblastoma FISH 21292688 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Normal - 20616218 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain or loss Breast cancer aCGH 21264507 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain or loss Endometrial cancer CGH 22040021 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Gain Phyllodes tumor CGH 17334353 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Loss Glioblastoma multiforme aCGH 21080181 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 124300000 247249719 Loss Liposarcoma FISH, CGH 21253554 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr11 24306059 24312124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 24332671 24354237 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 24347717 24358571 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 2435040 2435110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPM5 chr11 2439259 2826916 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KCNQ1,KCNQ1OT1,TRPM5 chr1 12439330 12439404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS13D chr11 24394595 24408917 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 24394595 24408917 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 24398843 24409483 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 24398843 24409483 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 1243993 1247057 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 CPSF3L,PUSL1 chr11 24399536 24408855 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 24400825 24406833 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 24406419 24406499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 24416542 24417334 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 24434033 24434130 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 24434033 24434132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 24475131 25060762 Duplication Normal References 22138850 LUZP2 chr11 24475183 25060755 Gain and loss Pancreatic cancer SNP array 17952125 LUZP2 chr11 24475366 25060753 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LUZP2 chr11 24475366 25060753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LUZP2 chr11 24475366 25060753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LUZP2 chr11 24492922 24493022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 24516805 24516837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1245501 1286000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CPSF3L,DVL1,GLTPD1,PUSL1,TAS1R3 chr11 24550528 24550623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr11 2455799 2455895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 24614946 24620925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LUZP2 chr11 24638108 25138024 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LUZP2 chr11 24672045 24701679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LUZP2 chr1 1 247249719 Copy number HIV/AIDS Quantitative real time PCR, CGH 22032296 AADACL3,AADACL4,ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACAP3,ACBD3,ACBD6,ACOT11,ACOT7,ACP6,ACTA1,ACTG1P4,ACTL8,ACTN2,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,ADSS,AGBL4,AGL,AGMAT,AGRN,AGT,AGTRAP,AHCTF1,AHCYL1,AHDC1,AIDA,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,AKT3,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANKRD65,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARID4B,ARL8A,ARNT,ARPC5,ARTN,ARV1,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATAD3A,ATAD3B,ATAD3C,ATF3,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B3GALT6,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf100,C1orf101,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf233,C1orf27,C1orf31,C1orf35,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf65,C1orf68,C1orf74,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CALML6,CAMK1G,CAMK2N1,CAMSAP2,CAMTA1,CAP1,CAPN2,CAPN8,CAPN9,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CCSAP,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK11A,CDK11B,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPF,CENPL,CEP104,CEP170,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHD5,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNIH3,CNIH4,CNKSR1,CNN3,CNR2,CNST,CNTN2,COG2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,COX20,CPSF3L,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX11L1,DDX20,DDX59,DEDD,DEGS1,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DESI2,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DVL1,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDARADD,EDEM3,EDN2,EFCAB2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENAH,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ERO1LB,ERRFI1,ESPN,ESPNP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM177B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM89A,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO28,FBXO42,FBXO44,FBXO6,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FH,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GABRD,GADD45A,GALE,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLTPD1,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG4,GNG5,GNL2,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR137B,GPR153,GPR157,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GREM2,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,GUK1,H3F3A,H3F3AP4,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HNRNPU,HNRNPU-AS1,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,IARS2,IBA57,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF2BP2,IRF6,ISG15,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1522,KIAA1614,KIAA1751,KIAA1804,KIAA2013,KIF14,KIF17,KIF1B,KIF21B,KIF26B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL17,KLHL20,KLHL21,KMO,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN28A,LIN9,LINC00115,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130093,LOC100130331,LOC100130417,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132062,LOC100132111,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506795,LOC100506801,LOC100506810,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC148413,LOC148696,LOC148709,LOC149086,LOC149134,LOC149373,LOC254099,LOC255654,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC339529,LOC339535,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC643837,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728463,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,LYST,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP1LC3C,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MFSD4,MGC27382,MGST3,MIA3,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR200A,MIR200B,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR34A,MIR3605,MIR3620,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4427,MIR4632,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4684,MIR4689,MIR4695,MIR4711,MIR4735,MIR4742,MIR4753,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MMP23A,MMP23B,MNDA,MOB3C,MORN1,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL20,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTR,MTX1,MUC1,MUL1,MUTYH,MXRA8,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NADK,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NID1,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOC2L,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPN3,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR4F16,OR4F29,OR4F3,OR4F5,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARP1,PARS2,PAX7,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLD5,PLEKHA6,PLEKHG5,PLEKHM2,PLEKHN1,PLEKHO1,PLK3,PLOD1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PUSL1,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RER1,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RHOU,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF187,RNF19B,RNF2,RNF207,RNF220,RNF223,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS7P5,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCMH1,SCNM1,SCNN1D,SCP2,SCYL3,SDC3,SDCCAG8,SDE2,SDF4,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A1,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SMYD2,SMYD3,SNAP47,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA14B,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA21,SPATA6,SPEN,SPHAR,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPSB1,SPTA1,SRG7,SRGAP2,SRGAP2B,SRM,SRP9,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARBP1,TARDBP,TARS2,TAS1R1,TAS1R2,TAS1R3,TATDN3,TBCE,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TFB2M,TGFB2,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM201,TMEM206,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM63A,TMEM69,TMEM79,TMEM81,TMEM82,TMEM88B,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIM67,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC13,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2J2,UBE2Q1,UBE2T,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,URB2,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR26,WDR3,WDR47,WDR63,WDR64,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT3A,WNT4,WNT9A,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF238,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF683,ZNF684,ZNF687,ZNF691,ZNF695,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 247249719 Deletion,duplication Normal Affymetrix 250K SNP array 21412953 AADACL3,AADACL4,ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACAP3,ACBD3,ACBD6,ACOT11,ACOT7,ACP6,ACTA1,ACTG1P4,ACTL8,ACTN2,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,ADSS,AGBL4,AGL,AGMAT,AGRN,AGT,AGTRAP,AHCTF1,AHCYL1,AHDC1,AIDA,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,AKT3,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANKRD65,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARID4B,ARL8A,ARNT,ARPC5,ARTN,ARV1,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATAD3A,ATAD3B,ATAD3C,ATF3,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B3GALT6,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf100,C1orf101,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf233,C1orf27,C1orf31,C1orf35,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf65,C1orf68,C1orf74,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CALML6,CAMK1G,CAMK2N1,CAMSAP2,CAMTA1,CAP1,CAPN2,CAPN8,CAPN9,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CCSAP,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK11A,CDK11B,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPF,CENPL,CEP104,CEP170,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHD5,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNIH3,CNIH4,CNKSR1,CNN3,CNR2,CNST,CNTN2,COG2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,COX20,CPSF3L,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX11L1,DDX20,DDX59,DEDD,DEGS1,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DESI2,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DVL1,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDARADD,EDEM3,EDN2,EFCAB2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENAH,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ERO1LB,ERRFI1,ESPN,ESPNP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM177B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM89A,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO28,FBXO42,FBXO44,FBXO6,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FH,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GABRD,GADD45A,GALE,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLTPD1,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG4,GNG5,GNL2,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR137B,GPR153,GPR157,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GREM2,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,GUK1,H3F3A,H3F3AP4,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HNRNPU,HNRNPU-AS1,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,IARS2,IBA57,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF2BP2,IRF6,ISG15,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1522,KIAA1614,KIAA1751,KIAA1804,KIAA2013,KIF14,KIF17,KIF1B,KIF21B,KIF26B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL17,KLHL20,KLHL21,KMO,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN28A,LIN9,LINC00115,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130093,LOC100130331,LOC100130417,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132062,LOC100132111,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506795,LOC100506801,LOC100506810,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC148413,LOC148696,LOC148709,LOC149086,LOC149134,LOC149373,LOC254099,LOC255654,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC339529,LOC339535,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC643837,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728463,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,LYST,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP1LC3C,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MFSD4,MGC27382,MGST3,MIA3,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR200A,MIR200B,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR34A,MIR3605,MIR3620,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4427,MIR4632,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4684,MIR4689,MIR4695,MIR4711,MIR4735,MIR4742,MIR4753,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MMP23A,MMP23B,MNDA,MOB3C,MORN1,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL20,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTR,MTX1,MUC1,MUL1,MUTYH,MXRA8,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NADK,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NID1,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOC2L,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPN3,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR4F16,OR4F29,OR4F3,OR4F5,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARP1,PARS2,PAX7,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLD5,PLEKHA6,PLEKHG5,PLEKHM2,PLEKHN1,PLEKHO1,PLK3,PLOD1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PUSL1,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RER1,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RHOU,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF187,RNF19B,RNF2,RNF207,RNF220,RNF223,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS7P5,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCMH1,SCNM1,SCNN1D,SCP2,SCYL3,SDC3,SDCCAG8,SDE2,SDF4,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A1,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SMYD2,SMYD3,SNAP47,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA14B,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA21,SPATA6,SPEN,SPHAR,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPSB1,SPTA1,SRG7,SRGAP2,SRGAP2B,SRM,SRP9,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARBP1,TARDBP,TARS2,TAS1R1,TAS1R2,TAS1R3,TATDN3,TBCE,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TFB2M,TGFB2,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM201,TMEM206,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM63A,TMEM69,TMEM79,TMEM81,TMEM82,TMEM88B,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIM67,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC13,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2J2,UBE2Q1,UBE2T,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,URB2,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR26,WDR3,WDR47,WDR63,WDR64,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT3A,WNT4,WNT9A,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF238,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF683,ZNF684,ZNF687,ZNF691,ZNF695,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 247249719 Deletion Schizophrenia - 19415332 AADACL3,AADACL4,ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACAP3,ACBD3,ACBD6,ACOT11,ACOT7,ACP6,ACTA1,ACTG1P4,ACTL8,ACTN2,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,ADSS,AGBL4,AGL,AGMAT,AGRN,AGT,AGTRAP,AHCTF1,AHCYL1,AHDC1,AIDA,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,AKT3,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANKRD65,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARID4B,ARL8A,ARNT,ARPC5,ARTN,ARV1,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATAD3A,ATAD3B,ATAD3C,ATF3,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B3GALT6,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf100,C1orf101,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf233,C1orf27,C1orf31,C1orf35,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf65,C1orf68,C1orf74,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CALML6,CAMK1G,CAMK2N1,CAMSAP2,CAMTA1,CAP1,CAPN2,CAPN8,CAPN9,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CCSAP,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK11A,CDK11B,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPF,CENPL,CEP104,CEP170,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHD5,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNIH3,CNIH4,CNKSR1,CNN3,CNR2,CNST,CNTN2,COG2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,COX20,CPSF3L,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX11L1,DDX20,DDX59,DEDD,DEGS1,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DESI2,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DVL1,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDARADD,EDEM3,EDN2,EFCAB2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENAH,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ERO1LB,ERRFI1,ESPN,ESPNP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM177B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM89A,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO28,FBXO42,FBXO44,FBXO6,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FH,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GABRD,GADD45A,GALE,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLTPD1,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG4,GNG5,GNL2,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR137B,GPR153,GPR157,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GREM2,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,GUK1,H3F3A,H3F3AP4,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HNRNPU,HNRNPU-AS1,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,IARS2,IBA57,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF2BP2,IRF6,ISG15,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1522,KIAA1614,KIAA1751,KIAA1804,KIAA2013,KIF14,KIF17,KIF1B,KIF21B,KIF26B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL17,KLHL20,KLHL21,KMO,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN28A,LIN9,LINC00115,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130093,LOC100130331,LOC100130417,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132062,LOC100132111,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506795,LOC100506801,LOC100506810,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC148413,LOC148696,LOC148709,LOC149086,LOC149134,LOC149373,LOC254099,LOC255654,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC339529,LOC339535,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC643837,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728463,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,LYST,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP1LC3C,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MFSD4,MGC27382,MGST3,MIA3,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR200A,MIR200B,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR34A,MIR3605,MIR3620,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4427,MIR4632,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4684,MIR4689,MIR4695,MIR4711,MIR4735,MIR4742,MIR4753,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MMP23A,MMP23B,MNDA,MOB3C,MORN1,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL20,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTR,MTX1,MUC1,MUL1,MUTYH,MXRA8,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NADK,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NID1,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOC2L,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPN3,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR4F16,OR4F29,OR4F3,OR4F5,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARP1,PARS2,PAX7,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLD5,PLEKHA6,PLEKHG5,PLEKHM2,PLEKHN1,PLEKHO1,PLK3,PLOD1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PUSL1,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RER1,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RHOU,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF187,RNF19B,RNF2,RNF207,RNF220,RNF223,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS7P5,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCMH1,SCNM1,SCNN1D,SCP2,SCYL3,SDC3,SDCCAG8,SDE2,SDF4,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A1,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SMYD2,SMYD3,SNAP47,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA14B,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA21,SPATA6,SPEN,SPHAR,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPSB1,SPTA1,SRG7,SRGAP2,SRGAP2B,SRM,SRP9,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARBP1,TARDBP,TARS2,TAS1R1,TAS1R2,TAS1R3,TATDN3,TBCE,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TFB2M,TGFB2,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM201,TMEM206,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM63A,TMEM69,TMEM79,TMEM81,TMEM82,TMEM88B,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIM67,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC13,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2J2,UBE2Q1,UBE2T,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,URB2,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR26,WDR3,WDR47,WDR63,WDR64,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT3A,WNT4,WNT9A,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF238,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF683,ZNF684,ZNF687,ZNF691,ZNF695,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 247249719 Gain Esophageal squamous carcinoma CGH 21637470 AADACL3,AADACL4,ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACAP3,ACBD3,ACBD6,ACOT11,ACOT7,ACP6,ACTA1,ACTG1P4,ACTL8,ACTN2,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,ADSS,AGBL4,AGL,AGMAT,AGRN,AGT,AGTRAP,AHCTF1,AHCYL1,AHDC1,AIDA,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,AKT3,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANKRD65,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARID4B,ARL8A,ARNT,ARPC5,ARTN,ARV1,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATAD3A,ATAD3B,ATAD3C,ATF3,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B3GALT6,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf100,C1orf101,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf233,C1orf27,C1orf31,C1orf35,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf65,C1orf68,C1orf74,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CALML6,CAMK1G,CAMK2N1,CAMSAP2,CAMTA1,CAP1,CAPN2,CAPN8,CAPN9,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CCSAP,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK11A,CDK11B,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPF,CENPL,CEP104,CEP170,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHD5,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNIH3,CNIH4,CNKSR1,CNN3,CNR2,CNST,CNTN2,COG2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,COX20,CPSF3L,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX11L1,DDX20,DDX59,DEDD,DEGS1,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DESI2,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DVL1,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDARADD,EDEM3,EDN2,EFCAB2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENAH,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ERO1LB,ERRFI1,ESPN,ESPNP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM177B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM89A,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO28,FBXO42,FBXO44,FBXO6,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FH,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GABRD,GADD45A,GALE,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLTPD1,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG4,GNG5,GNL2,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR137B,GPR153,GPR157,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GREM2,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,GUK1,H3F3A,H3F3AP4,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HNRNPU,HNRNPU-AS1,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,IARS2,IBA57,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF2BP2,IRF6,ISG15,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1522,KIAA1614,KIAA1751,KIAA1804,KIAA2013,KIF14,KIF17,KIF1B,KIF21B,KIF26B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL17,KLHL20,KLHL21,KMO,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN28A,LIN9,LINC00115,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130093,LOC100130331,LOC100130417,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132062,LOC100132111,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506795,LOC100506801,LOC100506810,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC148413,LOC148696,LOC148709,LOC149086,LOC149134,LOC149373,LOC254099,LOC255654,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC339529,LOC339535,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC643837,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728463,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,LYST,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP1LC3C,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MFSD4,MGC27382,MGST3,MIA3,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR200A,MIR200B,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR34A,MIR3605,MIR3620,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4427,MIR4632,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4684,MIR4689,MIR4695,MIR4711,MIR4735,MIR4742,MIR4753,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MMP23A,MMP23B,MNDA,MOB3C,MORN1,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL20,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTR,MTX1,MUC1,MUL1,MUTYH,MXRA8,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NADK,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NID1,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOC2L,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPN3,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR4F16,OR4F29,OR4F3,OR4F5,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARP1,PARS2,PAX7,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLD5,PLEKHA6,PLEKHG5,PLEKHM2,PLEKHN1,PLEKHO1,PLK3,PLOD1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PUSL1,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RER1,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RHOU,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF187,RNF19B,RNF2,RNF207,RNF220,RNF223,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS7P5,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCMH1,SCNM1,SCNN1D,SCP2,SCYL3,SDC3,SDCCAG8,SDE2,SDF4,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A1,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SMYD2,SMYD3,SNAP47,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA14B,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA21,SPATA6,SPEN,SPHAR,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPSB1,SPTA1,SRG7,SRGAP2,SRGAP2B,SRM,SRP9,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARBP1,TARDBP,TARS2,TAS1R1,TAS1R2,TAS1R3,TATDN3,TBCE,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TFB2M,TGFB2,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM201,TMEM206,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM63A,TMEM69,TMEM79,TMEM81,TMEM82,TMEM88B,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIM67,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC13,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2J2,UBE2Q1,UBE2T,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,URB2,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR26,WDR3,WDR47,WDR63,WDR64,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT3A,WNT4,WNT9A,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF238,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF683,ZNF684,ZNF687,ZNF691,ZNF695,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 247249719 Indels Normal Affymetrix 6.0 array 21223598 AADACL3,AADACL4,ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACAP3,ACBD3,ACBD6,ACOT11,ACOT7,ACP6,ACTA1,ACTG1P4,ACTL8,ACTN2,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,ADSS,AGBL4,AGL,AGMAT,AGRN,AGT,AGTRAP,AHCTF1,AHCYL1,AHDC1,AIDA,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,AKT3,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANKRD65,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARID4B,ARL8A,ARNT,ARPC5,ARTN,ARV1,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATAD3A,ATAD3B,ATAD3C,ATF3,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B3GALT6,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf100,C1orf101,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf233,C1orf27,C1orf31,C1orf35,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf65,C1orf68,C1orf74,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CALML6,CAMK1G,CAMK2N1,CAMSAP2,CAMTA1,CAP1,CAPN2,CAPN8,CAPN9,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CCSAP,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK11A,CDK11B,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPF,CENPL,CEP104,CEP170,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHD5,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNIH3,CNIH4,CNKSR1,CNN3,CNR2,CNST,CNTN2,COG2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,COX20,CPSF3L,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX11L1,DDX20,DDX59,DEDD,DEGS1,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DESI2,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DVL1,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDARADD,EDEM3,EDN2,EFCAB2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENAH,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ERO1LB,ERRFI1,ESPN,ESPNP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM177B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM89A,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO28,FBXO42,FBXO44,FBXO6,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FH,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GABRD,GADD45A,GALE,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLTPD1,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG4,GNG5,GNL2,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR137B,GPR153,GPR157,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GREM2,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,GUK1,H3F3A,H3F3AP4,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HNRNPU,HNRNPU-AS1,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,IARS2,IBA57,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF2BP2,IRF6,ISG15,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1522,KIAA1614,KIAA1751,KIAA1804,KIAA2013,KIF14,KIF17,KIF1B,KIF21B,KIF26B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL17,KLHL20,KLHL21,KMO,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN28A,LIN9,LINC00115,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130093,LOC100130331,LOC100130417,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132062,LOC100132111,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506795,LOC100506801,LOC100506810,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC148413,LOC148696,LOC148709,LOC149086,LOC149134,LOC149373,LOC254099,LOC255654,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC339529,LOC339535,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC643837,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728463,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,LYST,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP1LC3C,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MFSD4,MGC27382,MGST3,MIA3,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR200A,MIR200B,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR34A,MIR3605,MIR3620,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4427,MIR4632,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4684,MIR4689,MIR4695,MIR4711,MIR4735,MIR4742,MIR4753,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MMP23A,MMP23B,MNDA,MOB3C,MORN1,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL20,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTR,MTX1,MUC1,MUL1,MUTYH,MXRA8,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NADK,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NID1,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOC2L,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPN3,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR4F16,OR4F29,OR4F3,OR4F5,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARP1,PARS2,PAX7,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLD5,PLEKHA6,PLEKHG5,PLEKHM2,PLEKHN1,PLEKHO1,PLK3,PLOD1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PUSL1,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RER1,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RHOU,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF187,RNF19B,RNF2,RNF207,RNF220,RNF223,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS7P5,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCMH1,SCNM1,SCNN1D,SCP2,SCYL3,SDC3,SDCCAG8,SDE2,SDF4,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A1,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SMYD2,SMYD3,SNAP47,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA14B,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA21,SPATA6,SPEN,SPHAR,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPSB1,SPTA1,SRG7,SRGAP2,SRGAP2B,SRM,SRP9,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARBP1,TARDBP,TARS2,TAS1R1,TAS1R2,TAS1R3,TATDN3,TBCE,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TFB2M,TGFB2,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM201,TMEM206,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM63A,TMEM69,TMEM79,TMEM81,TMEM82,TMEM88B,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIM67,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC13,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2J2,UBE2Q1,UBE2T,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,URB2,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WASH7P,WDR26,WDR3,WDR47,WDR63,WDR64,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT3A,WNT4,WNT9A,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF238,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF683,ZNF684,ZNF687,ZNF691,ZNF695,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 2475005 2475058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ1 chr11 24750900 47461018 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABTB2,ACCS,ACCSL,ACP2,ALKBH3,ALX4,AMBRA1,ANO3,API5,APIP,ARFGAP2,ARHGAP1,ARL14EP,ATG13,BBOX1,BDNF,BDNF-AS,C11orf49,C11orf74,C11orf91,C11orf94,C11orf96,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CD82,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSTF3,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FBXO3,FIBIN,FJX1,FSHB,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HSD17B12,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LRP4,LRP4-AS1,LRRC4C,LUZP2,MADD,MAPK8IP1,MDK,METTL15,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4688,MIR5582,MIR610,MIR670,MPPED2,MUC15,MYBPC3,NAT10,NR1H3,PACSIN3,PAMR1,PAX6,PDHX,PEX16,PHF21A,PRDM11,PRR5L,PRRG4,PSMC3,QSER1,RAG1,RAG2,RAPSN,RCN1,SEC14L1P1,SLC1A2,SLC35C1,SLC39A13,SLC5A12,SNORD67,SPI1,SYT13,TCP11L1,TP53I11,TRAF6,TRIM44,TSPAN18,TTC17,WT1,WT1-AS,ZNF408 chr11 24772899 24772999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr11 24792766 24792951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr11 24792942 24793220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr11 2480000 3350000 Loss Acute lymphoblastic leukemia - 21339820 CARS,CDKN1C,KCNQ1,KCNQ1DN,KCNQ1OT1,MRGPRE,MRGPRG,MRGPRG-AS1,NAP1L4,OSBPL5,PHLDA2,SLC22A18,SLC22A18AS,SNORA54 chr11 24801229 25637874 LOH Normal High-resolution SNP genotyping 21211785 LUZP2 chr11 24801229 26313202 LOH Normal High-resolution SNP genotyping 21211785 LUZP2 chr11 24803756 24803788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr11 24817993 24818077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr1 12484501 12511500 Copy number Normal ReadDepth: A Parallel R Package 21305028 VPS13D chr1 12485265 12979132 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8,SNORA59A,SNORA59B,VPS13D chr11 2485501 2518500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNQ1 chr11 2486738 2516911 Copy number Congenital long qt syndrome References 19214780 KCNQ1 chr11 24876997 24877078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LUZP2 chr11 24892278 24892360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr1 12496429 12496504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS13D chr1 12497501 12497601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS13D chr11 24995116 25917470 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 LUZP2 chr11 24997162 24997262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr1 125000000 249250621 Copy number Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Copy number Neuroblastoma Affymetrix 100K SNP arrays 19435921 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Copy number Prostate cancer Human Genome U133 Plus 2.0 arrays, Affymetrix GCOS software 16705090 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Gain Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Gain Breast cancer Array CGH 16461572 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Gain Intracranial tumor References 16823260 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Gain Medulloblastoma Array CGH 18056178 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Gain Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Gain or loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 125000000 249250621 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 1250006 1254139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPSF3L chr1 1250006 1254139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPSF3L chr1 12501566 12501717 Gain and loss Pancreatic cancer SNP array 17952125 VPS13D chr11 25025434 25025538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LUZP2 chr11 25039129 25042302 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 LUZP2 chr11 25040789 25042313 Gain Normal Birdsuite, version 1.5.2 22087296 LUZP2 chr11 25068720 25068815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUZP2 chr1 125110 127902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12512979 12513062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS13D chr11 25140678 25140818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 25140799 25141006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 25140827 25140927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 2514497 2515559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNQ1 chr11 25148008 25148108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 25148529 25322096 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 25184498 25207031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 2518501 2547500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNQ1 chr11 25185063 25212541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 25189837 25217943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 25196317 25209240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 25196763 25212175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 25203937 25221798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 12520501 12619500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNORA59A,SNORA59B,VPS13D chr11 25212967 40182957 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABTB2,ANO3,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf74,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FIBIN,FJX1,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC338739,LRRC4C,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,SLC5A12,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS chr11 25219538 25219638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 25234097 26050896 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 12524658 12524741 Gain and loss Pancreatic cancer SNP array 17952125 VPS13D chr11 25250128 25273068 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 25250128 26084796 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr11 25311922 25313480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 12533434 12765362 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL4,DHRS3,SNORA59A,SNORA59B,VPS13D chr11 25384338 25390482 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 25389079 25389299 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 25391800 25391874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 2547501 2571500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNQ1 chr11 25475083 25475183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12550526 12600381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNORA59A,SNORA59B,VPS13D chr1 12550526 12600381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNORA59A,SNORA59B,VPS13D chr11 25521049 25521389 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 12552587 12552687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS13D chr11 25565110 25581305 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 25566597 25566917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 25576404 25576504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1255891 1267327 Gain and loss Pancreatic cancer SNP array 17952125 CPSF3L,GLTPD1,TAS1R3 chr11 25590379 25799242 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 25604938 25605139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12562206 12612003 Gain and loss Pancreatic cancer SNP array 17952125 SNORA59A,SNORA59B,VPS13D chr11 25636603 25636656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 25640729 25640829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 25651712 25682778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 25658897 25675545 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 25658897 25678714 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 25658897 25680654 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 25658897 25680867 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 1256589 1260550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPSF3L,GLTPD1 chr1 1256589 1260550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPSF3L,GLTPD1 chr11 25663530 25675545 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 25663530 25680654 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 25663530 25680867 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 25663542 25675557 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 25663627 25675545 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 25675446 25675534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 25705696 25705796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 25719823 25720495 Gain Normal 244K array 17666407 NOT_FOUND chr11 25722561 25725149 Loss Normal 244K array 17666407 NOT_FOUND chr1 1257363 1257416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPSF3L chr11 25780402 25820084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 25840913 35600517 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABTB2,ANO3,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FIBIN,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LGR4,LIN7C,LINC00294,LMO2,LOC338739,METTL15,MIR1343,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRRG4,QSER1,RCN1,SLC1A2,SLC5A12,TCP11L1,WT1,WT1-AS chr11 25855275 25861372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 25914570 26514246 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANO3 chr11 25917470 26799846 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ANO3,MUC15,SLC5A12 chr11 25986003 25986235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 26000000 36400000 Loss Normal - 22139918 ABTB2,ANO3,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FIBIN,FJX1,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC338739,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,SLC5A12,TCP11L1,TRIM44,WT1,WT1-AS chr1 12600000 16100000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 AADACL3,AADACL4,AGMAT,C1orf126,C1orf158,CASP9,CELA2A,CELA2B,CTRC,DDI2,DHRS3,DNAJC16,EFHD2,FBLIM1,FHAD1,HNRNPCL1,KAZN,LOC440563,LOC649330,LRRC38,PDPN,PLEKHM2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,RSC1A1,SLC25A34,TMEM51,TMEM82 chr1 12600000 16100000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 AADACL3,AADACL4,AGMAT,C1orf126,C1orf158,CASP9,CELA2A,CELA2B,CTRC,DDI2,DHRS3,DNAJC16,EFHD2,FBLIM1,FHAD1,HNRNPCL1,KAZN,LOC440563,LOC649330,LRRC38,PDPN,PLEKHM2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,RSC1A1,SLC25A34,TMEM51,TMEM82 chr11 2600509 2600576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ1 chr11 26037224 26037322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1260522 1274623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DVL1,GLTPD1,TAS1R3 chr1 1260522 1274623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DVL1,GLTPD1,TAS1R3 chr1 12608657 12954117 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 chr1 12608657 13540433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 chr1 12608657 13540433 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 chr1 12608657 13622361 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 chr11 26088227 26117034 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 26100000 27200000 Copy number Neuroticism SNP array 17667963 ANO3,BBOX1,FIBIN,MUC15,SLC5A12 chr11 26100000 36400000 Loss Basal cell lymphoma Array CGH 16317097 ABTB2,ANO3,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FIBIN,FJX1,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC338739,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,SLC5A12,TCP11L1,TRIM44,WT1,WT1-AS chr11 26100000 36400000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ABTB2,ANO3,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FIBIN,FJX1,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC338739,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,SLC5A12,TCP11L1,TRIM44,WT1,WT1-AS chr11 26107585 42215178 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ABTB2,ANO3,APIP,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf74,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FIBIN,FJX1,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100507205,LOC338739,LRRC4C,METTL15,MIR1343,MIR3973,MIR610,MPPED2,MUC15,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,SLC5A12,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS chr11 26124637 26156649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 26141134 26456186 Copy number Lung cancer paired-end sequencing 18438408 ANO3 chr11 26144106 26178153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 26151764 26153139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 26151767 26153147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 26159431 26159531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 26196151 27359908 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANO3,BBOX1,FIBIN,MUC15,SLC5A12 chr1 12627153 12649684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHRS3 chr1 12627153 12649684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS3 chr11 26279049 26279291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 26293049 26293241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 26309547 26641411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO3,MUC15 chr11 26309547 26641411 Gain and loss Pancreatic cancer SNP array 17952125 ANO3,MUC15 chr11 26309547 26641411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO3,MUC15 chr11 26359131 26976743 LOH Normal High-resolution SNP genotyping 21211785 ANO3,MUC15,SLC5A12 chr11 2637269 2637364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ1,KCNQ1OT1 chr1 12638853 12722992 Gain and loss Pancreatic cancer SNP array 17952125 AADACL4,DHRS3 chr11 2639001 2923000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDKN1C,KCNQ1,KCNQ1DN,KCNQ1OT1,SLC22A18,SLC22A18AS chr11 2639499 2673147 Substitutions and indels small cell lung cancer array-CGH 20016488 KCNQ1,KCNQ1OT1 chr1 12644531 12657361 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHRS3 chr11 26470798 27630926 Copy number Lung cancer paired-end sequencing 18438408 ANO3,BBOX1,BDNF-AS,CCDC34,FIBIN,LGR4,LIN7C,MUC15,SLC5A12 chr11 26514246 33767470 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANO3,ARL14EP,BBOX1,BDNF,BDNF-AS,C11orf91,CCDC34,CCDC73,CD59,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EIF3M,ELP4,FBXO3,FIBIN,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LGR4,LIN7C,LINC00294,LOC338739,METTL15,MIR610,MPPED2,MUC15,PAX6,PRRG4,QSER1,RCN1,SLC5A12,TCP11L1,WT1,WT1-AS chr11 26537156 26550244 Gain and loss Pancreatic cancer SNP array 17952125 ANO3 chr11 26538428 26550356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO3 chr11 26538428 26550356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO3 chr11 26564129 26564229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO3 chr11 26583698 26583798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO3,MUC15 chr11 26631293 26780450 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ANO3,SLC5A12 chr11 26636525 26636623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANO3 chr11 26645142 26701549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO3,SLC5A12 chr11 26645142 26701549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO3,SLC5A12 chr11 26647744 26647954 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ANO3 chr11 26648946 26701550 Gain and loss Pancreatic cancer SNP array 17952125 ANO3,SLC5A12 chr11 2667398 2692602 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 KCNQ1,KCNQ1OT1 chr11 26682306 28827116 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANO3,BBOX1,BDNF,BDNF-AS,CCDC34,FIBIN,KIF18A,LGR4,LIN7C,METTL15,MIR610,SLC5A12 chr11 26745719 26745819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12675510 12675614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS3 chr1 1267693 1284912 Gain and loss Pancreatic cancer SNP array 17952125 DVL1,TAS1R3 chr11 26774755 26774842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 2677947 3368187 Substitutions and indels small cell lung cancer array-CGH 20016488 CARS,CDKN1C,KCNQ1,KCNQ1DN,KCNQ1OT1,MRGPRE,MRGPRG,MRGPRG-AS1,NAP1L4,OSBPL5,PHLDA2,SLC22A18,SLC22A18AS,SNORA54 chr1 12680000 15370000 Loss Breast cancer aCGH 21509527 AADACL3,AADACL4,C1orf158,HNRNPCL1,KAZN,LOC440563,LOC649330,LRRC38,PDPN,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2 chr11 268001 391000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATHL1,B4GALNT4,IFITM1,IFITM2,IFITM3,IFITM5,NLRP6 chr11 26821318 26832756 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 268365 275359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 268365 275359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 26878195 26878295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 26921554 26921654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 26949271 27197653 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 BBOX1,FIBIN chr11 26972204 26975206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 26972204 26975206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 26972204 26975206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12698705 12711313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AADACL4 chr1 12698705 12711313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AADACL4 chr1 12700000 16200000 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 AADACL3,AADACL4,AGMAT,C1orf126,C1orf158,CASP9,CELA2A,CELA2B,CTRC,DDI2,DNAJC16,EFHD2,FBLIM1,FHAD1,FLJ37453,HNRNPCL1,KAZN,LOC440563,LOC649330,LRRC38,PDPN,PLEKHM2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,RSC1A1,SLC25A34,SPEN,TMEM51,TMEM82,UQCRHL chr11 27018803 27018903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 27019085 27105930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BBOX1 chr11 27019085 27105930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BBOX1 chr11 27019574 27105930 Gain and loss Pancreatic cancer SNP array 17952125 BBOX1 chr11 27028575 27037273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 27039790 27039983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 27062219 27063534 Gain or loss Breast cancer - 20668451 BBOX1 chr11 27062219 27063534 Gain or loss Cancer - 20668451 BBOX1 chr11 27062219 27063534 Gain or loss Lung cancer - 20668451 BBOX1 chr11 27062219 27063534 Gain or loss Ovarian cancer - 20668451 BBOX1 chr11 27062219 27063534 Gain or loss Pancreas cancer - 20668451 BBOX1 chr11 27062219 27063534 Gain or loss Prostate cancer - 20668451 BBOX1 chr1 1270657 1284492 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 DVL1 chr11 27084527 27084627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BBOX1 chr11 2710589 2710674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ1,KCNQ1OT1 chr11 2713222 2747013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNQ1,KCNQ1OT1 chr11 27137122 28700315 LOH Normal High-resolution SNP genotyping 21211785 BBOX1,BDNF,BDNF-AS,CCDC34,KIF18A,LGR4,LIN7C,METTL15,MIR610 chr11 27187910 27207940 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 27188818 27206487 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 27188818 27207940 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 27188818 27213480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 27200000 31000000 Copy number Neuroticism SNP array 17667963 ARL14EP,BDNF,BDNF-AS,CCDC34,DCDC5,FSHB,KCNA4,KIF18A,LGR4,LIN7C,METTL15,MIR610,MPPED2 chr11 27200000 36400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ABTB2,APIP,ARL14EP,BDNF,BDNF-AS,C11orf91,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,FSHB,HIPK3,IMMP1L,KCNA4,KIAA1549L,KIF18A,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC338739,METTL15,MIR1343,MIR3973,MIR610,MPPED2,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr1 12722280 12722383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AADACL4 chr11 27264446 27264778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 2727802 2782189 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNQ1 chr1 12728750 12743688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12728750 12743688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 27304873 27410305 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CCDC34,LGR4 chr11 27316637 27341428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 27316637 27341428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 27316638 27319574 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 27326993 27341428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 12733959 12734062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 27344084 27450910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC34,LGR4 chr11 27344084 27450910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC34,LGR4 chr11 27370529 27370629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC34 chr1 12737466 12737566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 27376220 27376289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC34 chr1 12740433 12758109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2741812 2741881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ1 chr1 12743662 12756840 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 27452358 27452448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LGR4 chr11 2745620 2920188 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDKN1C,KCNQ1,KCNQ1DN,SLC22A18AS chr11 27472700 27484879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LGR4 chr11 27472700 27484879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGR4 chr11 27472700 27484892 Gain and loss Pancreatic cancer SNP array 17952125 LGR4 chr11 27484974 27655926 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 BDNF-AS,LGR4,LIN7C chr11 2749162 2749383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ1 chr11 27499728 27499849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 27499760 27499848 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 2753009 2753109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ1 chr11 27534346 27654950 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BDNF-AS chr11 27550277 27878508 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BDNF,BDNF-AS chr11 27550277 28393075 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BDNF,BDNF-AS,KIF18A,METTL15,MIR610 chr11 27559730 27560223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BDNF-AS chr11 27559803 27560177 Gain and loss Pancreatic cancer SNP array 17952125 BDNF-AS chr1 12756840 12764515 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12757377 12954117 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 chr1 12757377 12954117 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 chr1 12757377 13540433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,C1orf158,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 chr1 12757377 13540433 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,C1orf158,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 chr1 12757377 13622361 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,C1orf158,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 chr1 12757584 12760636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12757584 12760636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 27593191 27593251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BDNF-AS chr11 2759787 2881783 Gain Stenocardia MACArray Karyo 54K BAC-chips 21860640 KCNQ1 chr11 2759787 2881783 Gain Vasospasm MACArray Karyo 54K BAC-chips 21860640 KCNQ1 chr11 276027 818909 LOH Normal High-resolution SNP genotyping 21211785 ANO9,ATHL1,B4GALNT4,C11orf35,CDHR5,CEND1,DEAF1,DRD4,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,NLRP6,NS3BP,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC25A22,SNORA52,TALDO1,TMEM80 chr1 12760709 12940743 Copy number loss Normal High-resolution SNP genotyping 21211785 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 chr1 12760709 13078485 Copy number loss Normal High-resolution SNP genotyping 21211785 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12761237 12761337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 27613840 27614171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BDNF-AS chr11 27633016 27699872 Gain and loss Pancreatic cancer SNP array 17952125 BDNF,BDNF-AS chr11 27633016 27700181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BDNF,BDNF-AS chr11 27633016 27700181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BDNF,BDNF-AS chr11 27633017 27699872 Deleted Non-syndromic sensorineural hearing loss - 19222835 BDNF,BDNF-AS chr11 27634423 27634716 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BDNF-AS chr1 12764515 12768450 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 27647324 27895474 Copy number Lung cancer paired-end sequencing 18438408 BDNF,BDNF-AS chr1 12768438 12805671 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AADACL3 chr1 12768438 12920855 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 chr1 12768438 13081658 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12768438 13304227 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 AADACL3,C1orf158,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12768450 12775335 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12768797 12802802 Copy number loss Normal High-resolution SNP genotyping 21211785 AADACL3 chr1 12768797 12819119 Copy number loss Normal High-resolution SNP genotyping 21211785 AADACL3,C1orf158 chr1 12769277 12772008 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 12770841 12954117 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 chr1 12770841 13540433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AADACL3,C1orf158,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 chr11 2771213 2771283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNQ1 chr11 27712501 27712601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BDNF,BDNF-AS chr1 12774133 12844828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AADACL3,C1orf158,PRAMEF12 chr1 12774133 12844828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AADACL3,C1orf158,PRAMEF12 chr1 12775335 12782000 Gain or loss Normal Birdsuite, version 1.5.2 22087296 AADACL3 chr1 12775335 12920855 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 chr1 12775335 12920855 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 chr1 12775335 13081658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr11 27760980 28555042 LOH Normal High-resolution SNP genotyping 21211785 KIF18A,METTL15,MIR610 chr11 27778799 27778994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 12778175 12886319 Copy number loss Normal High-resolution SNP genotyping 21211785 AADACL3,C1orf158,PRAMEF1,PRAMEF11,PRAMEF12 chr1 12778175 12940743 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 chr1 12778175 13063432 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12778175 13098126 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr11 27784566 27785119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 27784566 27785119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 27788724 27791860 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 1277935 1286506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DVL1 chr1 1277935 1286506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DVL1 chr11 27795516 27795616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 27800000 Deletion 1p36 deletion syndrome MLPA 22283845 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Deletion Developmental delay FISH 19490664 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Deletion Ewing's sarcoma Karyotyping(Reference) 21437220 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Deletion Medulloblastoma SNP arrays 21979893 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Deletion periventricular nodular heterotopia Affymetrix 250k Nsp I array 20648244 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Deletion Prader-willi syndrome high-resolution cytogenetic analysis 18797701 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Loss Cancer array-based techniques 21183584 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Loss Follicular lymphoma aCGH 20505157 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Loss Glioblastoma multiforme aCGH 21080181 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Loss Neuroblastic tumor Array CGH 20669225 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Loss Neuroblastoma - 18923524 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Loss Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 27800000 Microdeletion Mental retardation array-CGH 20152051 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 12780836 12802904 Copy number gain Normal High-resolution SNP genotyping 21211785 AADACL3 chr1 12781210 12966551 Gain Normal 244K array 17666407 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 chr1 12782000 12789677 Gain or loss Normal Birdsuite, version 1.5.2 22087296 AADACL3 chr11 27833476 27833573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12784816 12840666 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AADACL3,C1orf158,PRAMEF12 chr11 27852988 27853074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12785812 12856507 Gain and loss Pancreatic cancer SNP array 17952125 AADACL3,C1orf158,PRAMEF1,PRAMEF12 chr11 27868125 27869156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 27868125 27869156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 27868224 27869156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 12789665 12938082 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 chr1 12789665 13256958 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf158,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12789677 12805146 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 27909718 27943424 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr11 279135 285688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP6 chr11 279135 285688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP6 chr11 27917554 27917654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 27934377 27934477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 27957476 29437468 Copy number Lung cancer paired-end sequencing 18438408 KIF18A,METTL15,MIR610 chr1 12796163 12796254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 27998739 28086322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF18A,MIR610 chr11 27998739 28086322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF18A,MIR610 chr11 27998742 28086223 Gain and loss Pancreatic cancer SNP array 17952125 KIF18A,MIR610 chr1 128000000 185104377 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRIM46,TRMT1L,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 128000000 218510624 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AVPR1B,AXDND1,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf116,C1orf129,C1orf186,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf74,C1orf85,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNTN2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DIEXF,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP12,DUSP23,DUSP27,DYRK3,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,EIF2D,ELF3,ELK4,ENSA,ESRRG,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM91A2,FASLG,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HHAT,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNH1,KCNJ10,KCNJ9,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LEMD1,LEMD1-AS1,LENEP,LGR6,LHX4,LHX9,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148696,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYSMD1,MAEL,MAPKAPK2,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR190B,MIR199A2,MIR205,MIR205HG,MIR214,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAPIN,SNORA16B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAGLN2,TARS2,TATDN3,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRAF3IP3,TRAF5,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687 chr1 128000000 225653024 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIDA,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf140,C1orf186,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DHX9,DIEXF,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DYRK3,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,EIF2D,ELF3,ELK4,ENSA,EPRS,ESRRG,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HLX,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNH1,KCNJ10,KCNJ9,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LEMD1,LEMD1-AS1,LENEP,LGR6,LHX4,LHX9,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148696,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,MAEL,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR320B2,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4654,MIR4735,MIR4742,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP210L,NVL,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAPIN,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAGLN2,TARS2,TATDN3,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687 chr1 128000000 227878612 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABL2,ACBD3,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,AIDA,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf140,C1orf186,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DHX9,DIEXF,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DYRK3,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ESRRG,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HLX,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JTB,KCNH1,KCNJ10,KCNJ9,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGR6,LHX4,LHX9,LIN9,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148696,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,MAEL,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR320B2,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4654,MIR4735,MIR4742,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP210L,NVL,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAPIN,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAGLN2,TARS2,TATDN3,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF678,ZNF687 chr1 128000000 241700000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,AGT,AIDA,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 128000000 247249719 Gain Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 115 samples 21899760 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 128000000 247249719 Gain Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 122 samples 21899760 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 1 28000000 Copy number Glioblastoma correlation matrix diagonal segmentation method 20031968 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Deletion Glioblastoma multiforme Array CGH 16951158 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Deletion Neuroblastoma FISH 18574593 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Gain Glioblastoma multiforme FISH and array CGH 17369134 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Loss Autism References 18414403 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Loss Breast cancer BAC-arrays 17001317 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Loss Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Loss Myoepithelioma Array CGH 18604193 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 1 28000000 Loss Wilms tumour Array CGH 19047088 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCNN1D,SDF4,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SSU72,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr11 2800000 10700000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Deletion Lung cancer Relied on a multipoint score function 16773561 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Duplication Neuroblastoma Illumina HumanHap550 BeadChip 21124317 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Gain Gastric cancer Array CGH 16891809 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 2800000 10700000 Loss and deletion Multiple myeloma Array CGH 16616336 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CARS,CCKBR,CDKN1C,CHRNA10,CNGA4,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,FAM160A2,FXC1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KCNQ1,KCNQ1DN,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NAP1L4,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OSBPL5,OVCH2,PGAP2,PHLDA2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SLC22A18,SLC22A18AS,SMPD1,SNORA23,SNORA3,SNORA45,SNORA54,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZNF143,ZNF195,ZNF214,ZNF215 chr11 28011741 28338552 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 KIF18A,METTL15,MIR610 chr11 280233 1074362 Deletion or duplication Mortal Illumina 550K array 21835882 ANO9,AP2A2,ATHL1,B4GALNT4,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,MUC6,NLRP6,NS3BP,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 chr11 28034938 28035033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12804807 13009889 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12805146 12805683 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12805683 12805684 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12805684 12814896 Gain or loss Normal Birdsuite, version 1.5.2 22087296 C1orf158 chr11 28059957 28060041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF18A chr11 28064561 28064661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF18A chr1 12807067 12811110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf158 chr11 28086371 28311630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF18A,METTL15 chr11 28086371 28311630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF18A,METTL15 chr11 28086492 28311519 Gain and loss Pancreatic cancer SNP array 17952125 KIF18A,METTL15 chr11 28092213 28335137 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KIF18A,METTL15 chr11 2812494 2941798 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 CDKN1C,KCNQ1,KCNQ1DN,SLC22A18,SLC22A18AS chr11 2812494 2941798 Gain Stenocardia MACArray Karyo 53K BAC-chips 21860640 CDKN1C,KCNQ1,KCNQ1DN,SLC22A18,SLC22A18AS chr11 2812494 2941798 Gain Vasospasm MACArray Karyo 53K BAC-chips 21860640 CDKN1C,KCNQ1,KCNQ1DN,SLC22A18,SLC22A18AS chr11 2814194 2879069 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 KCNQ1 chr1 12814896 12815095 Gain or loss Normal Birdsuite, version 1.5.2 22087296 C1orf158 chr1 12815095 12831823 Gain or loss Normal Birdsuite, version 1.5.2 22087296 C1orf158 chr1 12818734 12880314 Gain and loss Pancreatic cancer SNP array 17952125 C1orf158,PRAMEF1,PRAMEF12 chr1 12820633 12820910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C1orf158 chr1 12820910 12823797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf158 chr11 28239327 28239640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL15 chr11 28239401 28239635 Gain and loss Pancreatic cancer SNP array 17952125 METTL15 chr11 28239401 28239635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL15 chr11 28265358 28265748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL15 chr1 12826587 13093905 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12829847 12831165 Copy number Normal Illumina Human610-Quad BeadChip 21660214 NOT_FOUND chr1 12829848 12831165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12829848 12831165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 28306229 28306288 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 METTL15 chr1 12831823 12831824 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12831824 12832564 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12831950 12881451 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PRAMEF1,PRAMEF12 chr1 12832386 12832476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12832564 12833184 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12833184 12838434 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PRAMEF12 chr11 2833780 2833812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ1 chr11 2834307 2834379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNQ1 chr11 28361329 28361393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 28383949 28384049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12838434 12847183 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 1283900 1286979 Gain and loss Pancreatic cancer SNP array 17952125 DVL1 chr1 12839528 12844351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12839528 12844351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2843366 2843451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ1 chr1 12843432 13373484 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12843432 13373484 Copy number loss Normal High-resolution SNP genotyping 21211785 HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 chr1 12847183 12849694 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 2847839 2849909 Gain and loss Pancreatic cancer SNP array 17952125 KCNQ1 chr1 12849694 12849695 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12849695 12850443 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 12850443 12920855 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 chr1 12851207 12856030 Gain and loss Pancreatic cancer SNP array 17952125 PRAMEF1 chr1 1286001 1355500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD65,AURKAIP1,CCNL2,LOC148413,MRPL20,MXRA8 chr11 2861019 2863555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNQ1 chr11 2861019 2863555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ1 chr11 2861023 2863571 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KCNQ1 chr11 2861392 2863577 Gain and loss Pancreatic cancer SNP array 17952125 KCNQ1 chr1 12861623 12927847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 chr1 12861623 12927847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 chr11 28648363 30198901 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KCNA4 chr11 28648363 30530165 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL14EP,FSHB,KCNA4,MPPED2 chr11 2865903 2881751 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KCNQ1 chr11 2865904 2881546 Gain and loss Pancreatic cancer SNP array 17952125 KCNQ1 chr1 1286901 1299973 Gain and loss Pancreatic cancer SNP array 17952125 MXRA8 chr1 1286916 1536363 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,C1orf233,CCNL2,LOC148413,MRPL20,MXRA8,SSU72,TMEM240,TMEM88B,VWA1 chr1 12870030 12970101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 chr1 12871415 12975604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 chr1 12871597 12976268 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 chr11 28738314 28782974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 12875314 12880681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12875314 12880681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 28761104 29044884 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr11 28771212 28771312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 2877527 2903051 Gain and loss Pancreatic cancer SNP array 17952125 KCNQ1DN chr11 2877527 2903052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNQ1DN chr11 2877527 2903052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ1DN chr11 28818788 28818888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 28819808 28819908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 288203 289526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATHL1 chr11 288203 289526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATHL1 chr11 28864122 50437347 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABTB2,ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,API5,APIP,ARFGAP2,ARHGAP1,ARL14EP,ATG13,C11orf49,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CAPRIN1,CAT,CCDC73,CD44,CD59,CD82,CELF1,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSTF3,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FAM180B,FBXO3,FJX1,FNBP4,FOLH1,FSHB,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HSD17B12,IMMP1L,KBTBD4,KCNA4,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,LRRC4C,MADD,MAPK8IP1,MDK,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4688,MIR5582,MIR670,MPPED2,MTCH2,MYBPC3,NAT10,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PAMR1,PAX6,PDHX,PEX16,PHF21A,PRDM11,PRR5L,PRRG4,PSMC3,PTPMT1,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RCN1,SEC14L1P1,SLC1A2,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TCP11L1,TP53I11,TRAF6,TRIM44,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,WT1,WT1-AS,ZNF408 chr1 12887061 12889944 Gain and loss Pancreatic cancer SNP array 17952125 PRAMEF11 chr11 28879680 28879780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 28881069 29029074 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 128900000 142600000 Deletion Sudden cardiac death CGH 19188705 NOT_FOUND chr1 128900000 165500000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,AIM2,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,ATP8B2,B4GALT3,BCAN,BCL9,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DPM3,DUSP12,DUSP23,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,FAM189B,FAM63A,FAM72D,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC388692,LOC400794,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRRC71,LY9,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MLLT11,MNDA,MPZ,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NOTCH2NL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RBM8A,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUMO1P3,SV2A,SYT11,TAGLN2,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VPS45,VPS72,VSIG8,YY1AP1,ZBTB7B,ZNF687 chr1 128900000 185800000 Gain Bladder cancer Affymetrix GeneChip Mapping 10K 2.0 19088036 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRIM46,TRMT1L,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 128900000 249250621 Amplification Breast cancer Array CGH 16461572 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr11 28943901 28974062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 28946057 28979331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 28957159 28969464 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 28959233 29004217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 28961801 28971300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 28961900 28977024 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 28963107 28969322 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 28963726 28969302 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 28966407 28966507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12899037 12903156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12899037 12903156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 28990528 29011842 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 29001470 29431689 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 NOT_FOUND chr1 12904961 12905067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 29051030 29051120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12906001 13084000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr11 2906079 2907226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDKN1C chr11 2906079 2907226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDKN1C chr11 2906086 2907226 Gain and loss Pancreatic cancer SNP array 17952125 CDKN1C chr1 12908577 12910668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPCL1 chr11 29088304 29088404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29094201 29098600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 29095953 29096982 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 29095961 29096909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 12916640 12916746 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 12920768 12930007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF2 chr1 12920768 12930007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF2 chr1 12920855 12938082 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PRAMEF2 chr11 2922237 2970183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAP1L4,PHLDA2,SLC22A18,SLC22A18AS chr11 2922237 2970183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAP1L4,PHLDA2,SLC22A18,SLC22A18AS chr11 2922873 2954101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PHLDA2,SLC22A18,SLC22A18AS chr11 29234943 29235043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29254812 29254928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 292679 292737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATHL1 chr11 29306386 29338251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 29324601 29324697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29337424 29337514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1293432 1293523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MXRA8 chr1 12935553 12938342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 12938082 13081669 Gain Normal Birdsuite, version 1.5.2 22087296 PRAMEF10,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 chr11 29410602 29410702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 2941577 2941699 Gain and loss Pancreatic cancer SNP array 17952125 SLC22A18 chr11 2941577 2941699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC22A18 chr11 29451538 29607761 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr11 29463569 29463700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29463937 29464063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29465517 29465617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29467975 29468075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29523674 29523774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 12958109 12960968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 29584066 46554110 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABTB2,ACCS,ACCSL,ALKBH3,ALX4,AMBRA1,API5,APIP,ARL14EP,C11orf74,C11orf91,C11orf94,C11orf96,CAPRIN1,CAT,CCDC73,CD44,CD59,CD82,CHRM4,CHST1,COMMD9,CREB3L1,CRY2,CSTF3,DCDC1,DCDC5,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,EHF,EIF3M,ELF5,ELP4,EXT2,FBXO3,FJX1,FSHB,GYLTL1B,HIPK3,HNRNPKP3,HSD17B12,IMMP1L,KCNA4,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LRRC4C,MAPK8IP1,MDK,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4688,MIR670,MPPED2,NAT10,PAMR1,PAX6,PDHX,PEX16,PHF21A,PRDM11,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SEC14L1P1,SLC1A2,SLC35C1,SYT13,TCP11L1,TP53I11,TRAF6,TRIM44,TSPAN18,TTC17,WT1,WT1-AS chr11 29622724 29797881 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr11 29632680 29632780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1296649 1311767 Loss Normal Quantitative PCR 18989455 AURKAIP1 chr11 2967669 2969139 Gain and loss Pancreatic cancer SNP array 17952125 NAP1L4 chr11 2967669 2969139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAP1L4 chr11 2968501 3063500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CARS,NAP1L4,SNORA54 chr11 29699019 29699119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29699589 29699807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 29699589 29699807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 29703887 29704688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 29704153 29704483 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 29704844 29705179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 29706718 29706818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29721309 29721409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 2978728 3035247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARS,NAP1L4,SNORA54 chr11 2978728 3035247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARS,NAP1L4,SNORA54 chr11 2978734 3035247 Gain or loss Breast cancer - 20668451 CARS,NAP1L4,SNORA54 chr11 2978734 3035247 Gain or loss Cancer - 20668451 CARS,NAP1L4,SNORA54 chr11 2978734 3035247 Gain or loss Lung cancer - 20668451 CARS,NAP1L4,SNORA54 chr11 2978734 3035247 Gain or loss Ovarian cancer - 20668451 CARS,NAP1L4,SNORA54 chr11 2978734 3035247 Gain or loss Pancreas cancer - 20668451 CARS,NAP1L4,SNORA54 chr11 2978734 3035247 Gain or loss Prostate cancer - 20668451 CARS,NAP1L4,SNORA54 chr11 2978736 3035173 Gain and loss Pancreatic cancer SNP array 17952125 CARS,NAP1L4,SNORA54 chr11 29812738 30376868 Copy number Lung cancer paired-end sequencing 18438408 ARL14EP,FSHB,KCNA4 chr11 298163 299395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFITM5 chr11 298163 299395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFITM5 chr11 29859725 29859825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29865209 29865309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 2986654 3042906 Amplification or deletion Cancer Array CGH 17440070 CARS,NAP1L4 chr11 29869685 29869785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1298973 1300443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 2990704 2991241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAP1L4 chr11 29922001 29927000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 29924147 29925082 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 29924147 29925082 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr11 29924150 29925025 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 29924155 29925042 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 129927668 130016331 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 NOT_FOUND chr11 2992900 3024682 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CARS,NAP1L4 chr11 299292 1410948 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANO9,AP2A2,B4GALNT4,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC143666,LOC255512,LRRC56,MIR210,MIR210HG,MUC2,MUC5B,MUC6,NS3BP,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC25A22,SNORA52,TALDO1,TMEM80,TOLLIP,TSPAN4 chr11 29947594 29947689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29955537 29955637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29959506 29959606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29983762 29983841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 29988341 29995064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 29988341 29995064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 29988840 29990801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 29991365 29991465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 30000000 Gain Breast cancer Array CGH 16608533 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DNAJC8,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FUCA1,GABRD,GALE,GLTPD1,GMEB1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES4,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,ISG15,KAZN,KCNAB2,KDM1A,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC254099,LOC284632,LOC284661,LOC339505,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR429,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHACTR4,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTAFR,PTCHD2,PTPRU,PUSL1,RAB42,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SAMD11,SCARNA1,SCNN1D,SDF4,SDHB,SEPN1,SESN2,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA59A,SNORA59B,SNORA61,SNORD99,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STMN1,STPG1,STX12,SYF2,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,THEMIS2,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM240,TMEM50A,TMEM51,TMEM52,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNAU1AP,TRNP1,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 13002481 13098771 Gain Normal 244K array 17666407 PRAMEF22,PRAMEF6 chr11 30048807 30048907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13006974 13007855 Gain and loss Pancreatic cancer SNP array 17952125 PRAMEF6 chr11 30102688 30102784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 30113280 30113362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 30113705 30113805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 30128560 30133451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 30129311 30137019 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 301317 305271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 301317 305271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3017375 3017746 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 30209139 30213384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 30209139 30213384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 30210026 30211923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 30218146 30218246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1302214 1303066 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 3026164 3026327 Gain and loss Pancreatic cancer SNP array 17952125 CARS chr11 3026165 3026327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARS chr11 3026167 3026327 Gain and loss Pancreatic cancer SNP array 17952125 CARS chr1 130300000 184000000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf220,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 130300000 197500000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B3GALT2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CDC73,CELF3,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND1B,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F13B,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM5C,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KCNT2,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440700,LOC440704,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1278,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLA2G4A,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNU6-72,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB41,ZBTB7B,ZNF648,ZNF687 chr1 130300000 212100000 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AVPR1B,AXDND1,B3GALT2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf116,C1orf129,C1orf186,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf74,C1orf85,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42SE1,CDC73,CDK18,CELF3,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNTN2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DIEXF,DNM3,DNM3OS,DPM3,DPT,DSTYK,DUSP12,DUSP23,DUSP27,DYRK3,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,EIF2D,ELF3,ELK4,ENSA,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM72A,FAM72D,FAM78B,FAM91A2,FASLG,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HHAT,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,IPO9,IQGAP3,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNH1,KCNJ10,KCNJ9,KCNN3,KCNT2,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LEMD1,LEMD1-AS1,LENEP,LGR6,LHX4,LHX9,LINC00260,LINC00272,LINC00303,LINC00467,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148696,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYSMD1,MAEL,MAPKAPK2,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR190B,MIR199A2,MIR205,MIR205HG,MIR214,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NES,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRAF3IP3,TRAF5,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687 chr11 3030075 3030155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARS chr11 30301232 30316344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 30301232 30316344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 30301232 30316344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 30306990 30307090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13031101 13040338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF22 chr11 30367012 30558616 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MPPED2 chr11 30367012 30558616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPPED2 chr11 30367012 30558616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPPED2 chr11 30377903 30378003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 30388350 30565113 Gain and loss Pancreatic cancer SNP array 17952125 MPPED2 chr1 1303907 1304275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 30390886 33994784 Copy number Lung cancer paired-end sequencing 18438408 C11orf91,CCDC73,CD59,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EIF3M,ELP4,FBXO3,HIPK3,IMMP1L,KIAA1549L,LINC00294,LMO2,LOC338739,MPPED2,PAX6,PRRG4,QSER1,RCN1,TCP11L1,WT1,WT1-AS chr11 30397080 32312243 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCDC1,DCDC5,DKFZp686K1684,DNAJC24,ELP4,IMMP1L,MPPED2,PAX6,RCN1 chr11 30402496 30402581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 30455596 30455696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPPED2 chr1 13046586 13054585 Loss Normal TaqMan assays 20972442 NOT_FOUND chr11 30492964 30493062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPPED2 chr11 30498359 30498434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPPED2 chr11 30522948 30942338 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCDC5,MPPED2 chr11 3054543 3054608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARS chr11 30598339 30598430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPPED2 chr11 30604296 30604396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPPED2 chr11 3062199 3063249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARS chr1 13063043 13067587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3063501 3137000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CARS,OSBPL5 chr11 30635166 31987211 LOH Normal High-resolution SNP genotyping 21211785 DCDC1,DCDC5,DKFZp686K1684,DNAJC24,ELP4,IMMP1L,PAX6 chr11 30642730 30642815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3064922 3143116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARS,OSBPL5 chr11 3064922 3143116 Gain and loss Pancreatic cancer SNP array 17952125 CARS,OSBPL5 chr11 3064922 3143116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARS,OSBPL5 chr1 1306649 1310504 Gain and loss Pancreatic cancer SNP array 17952125 AURKAIP1 chr11 30681516 30920194 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-689K arrays 21546498 DCDC5 chr11 30766962 30767062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 30782327 30782412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 30808501 31105788 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCDC5 chr1 13081669 13081670 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 13081670 13247932 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC440563,PRAMEF5 chr1 13081767 13084251 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 30841730 30910027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCDC5 chr11 30841730 30910027 Gain and loss Pancreatic cancer SNP array 17952125 DCDC5 chr11 30841730 30910027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCDC5 chr1 13085232 13088030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 30921325 31347933 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCDC1,DCDC5 chr11 30921325 31347933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCDC1,DCDC5 chr11 30930562 31115907 Gain and loss Pancreatic cancer SNP array 17952125 DCDC5 chr11 30936338 31020588 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DCDC5 chr1 13094458 13095744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 30949451 30957672 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DCDC5 chr11 309678 310848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 309678 310848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 31000000 36400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Copy number Breast cancer BAC array 16272173 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Copy number Denys-drash syndrome high-resolution SNP arrays 21085971 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Copy number Denys-drash syndrome References 19566914 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Copy number Familial wilms tumor References 19566914 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Copy number Frasier syndrome References 19566914 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Copy number Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Copy number WAGR syndrome Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion Aniridia syndrome References 17204608 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion Disorders of sex development aCGH 22290220 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion genitourinary abnormalities References 17204608 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion Mental retardation References 17204608 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion Non-syndromic sensorineural hearing loss CGH 19222835 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion Normal - 21701786 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion WAGR syndrome References 19617690 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Gain and amplification Multiple myeloma Array CGH 16616336 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Gain Breast cancer - 16397240 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Loss Cancer array-based techniques 21183584 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Loss Malignant peripheral nerve sheath tumor Array CGH 18522746 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Microdeletion WAGR syndrome aCGH 22470819 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 36400000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RCN1,SLC1A2,TCP11L1,TRIM44,WT1,WT1-AS chr11 31000000 43400000 Deletion Potocki-Shaffer syndrome FISH and MLPA analyses 19222835 ABTB2,API5,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,HNRNPKP3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC338739,LRRC4C,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,TCP11L1,TRAF6,TRIM44,TTC17,WT1,WT1-AS chr11 31000000 43400000 Deletion WAGR syndrome - 20603712 ABTB2,API5,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,HNRNPKP3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC338739,LRRC4C,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,TCP11L1,TRAF6,TRIM44,TTC17,WT1,WT1-AS chr11 31000000 43400000 Deletion WAGR syndrome FISH and MLPA analyses 19222835 ABTB2,API5,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,HNRNPKP3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC338739,LRRC4C,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,TCP11L1,TRAF6,TRIM44,TTC17,WT1,WT1-AS chr11 31000000 43400000 Gain Non-small cell lung cancer dChip 21829676 ABTB2,API5,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,HNRNPKP3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC338739,LRRC4C,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,TCP11L1,TRAF6,TRIM44,TTC17,WT1,WT1-AS chr11 31000000 43500000 Copy number Autism Affymetrix 10K SNP arrays 17322880 ABTB2,API5,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,HNRNPKP3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC338739,LRRC4C,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,TCP11L1,TRAF6,TRIM44,TTC17,WT1,WT1-AS chr11 31000000 43500000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ABTB2,API5,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DCDC1,DCDC5,DEPDC7,DKFZp686K1684,DNAJC24,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,HNRNPKP3,IMMP1L,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC338739,LRRC4C,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,TCP11L1,TRAF6,TRIM44,TTC17,WT1,WT1-AS chr11 31000000 52900000 Deletion Potocki-Shaffer syndrome FISH and MLPA analyses 19222835 ABTB2,ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,API5,APIP,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CAPRIN1,CAT,CCDC73,CD44,CD59,CD82,CELF1,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSTF3,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FAM180B,FBXO3,FJX1,FNBP4,FOLH1,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HSD17B12,IMMP1L,KBTBD4,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,LRRC4C,MADD,MAPK8IP1,MDK,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NAT10,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,PACSIN3,PAMR1,PAX6,PDHX,PEX16,PHF21A,PRDM11,PRR5L,PRRG4,PSMC3,PTPMT1,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RCN1,SEC14L1P1,SLC1A2,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TCP11L1,TP53I11,TRAF6,TRIM44,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,WT1,WT1-AS,ZNF408 chr11 31000000 52900000 Deletion WAGR syndrome FISH and MLPA analyses 19222835 ABTB2,ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,API5,APIP,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CAPRIN1,CAT,CCDC73,CD44,CD59,CD82,CELF1,CHRM4,CHST1,CKAP5,COMMD9,CREB3L1,CRY2,CSTF3,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DNAJC24,EHF,EIF3M,ELF5,ELP4,EXT2,F2,FAM180B,FBXO3,FJX1,FNBP4,FOLH1,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HSD17B12,IMMP1L,KBTBD4,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,LRRC4C,MADD,MAPK8IP1,MDK,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NAT10,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,PACSIN3,PAMR1,PAX6,PDHX,PEX16,PHF21A,PRDM11,PRR5L,PRRG4,PSMC3,PTPMT1,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RCN1,SEC14L1P1,SLC1A2,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TCP11L1,TP53I11,TRAF6,TRIM44,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,WT1,WT1-AS,ZNF408 chr11 31000000 69200000 Loss Non-small cell lung cancer - 21385341 ABTB2,ACCS,ACCSL,ACP2,ACTN3,ACY3,ADRBK1,AGBL2,AHNAK,AIP,ALDH3B1,ALDH3B2,ALKBH3,ALX4,AMBRA1,ANKRD13D,AP5B1,API5,APIP,APLNR,ARFGAP2,ARHGAP1,ARL2,ARL2-SNX15,ASRGL1,ATG13,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf31,C11orf48,C11orf49,C11orf68,C11orf74,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf91,C11orf94,C11orf95,C11orf96,C1QTNF4,CABP2,CABP4,CAPN1,CAPRIN1,CARNS1,CAT,CATSPER1,CCDC73,CCDC85B,CCDC86,CCDC87,CCDC88B,CCS,CD248,CD44,CD5,CD59,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CELF1,CFL1,CHKA,CHRM1,CHRM4,CHST1,CKAP5,CLCF1,CLP1,CNIH2,CNTF,COMMD9,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CRY2,CST6,CSTF3,CTNND1,CTSF,CTSW,CYBASC3,DAGLA,DAK,DCDC1,DCDC5,DDB1,DDB2,DEPDC7,DGKZ,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DNAJC24,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EHF,EIF1AD,EIF3M,ELF5,ELP4,EML3,ESRRA,EXT2,F2,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM180B,FAM86C2P,FAM89B,FAU,FBXO3,FEN1,FERMT3,FIBP,FJX1,FKBP2,FLRT1,FNBP4,FOLH1,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSD17B12,IGHMBP2,IMMP1L,INCENP,INTS5,KAT5,KBTBD4,KCNK4,KCNK7,KDM2A,KIAA1549L,KLC2,LDLRAD3,LGALS12,LINC00294,LINC00301,LMO2,LOC100130348,LOC100130987,LOC100507205,LOC100507300,LOC100507384,LOC100996455,LOC221122,LOC254100,LOC283194,LOC338739,LOC440040,LOC441601,LOC646813,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC4C,LRRC55,LRRN4CL,LTBP3,MACROD1,MADD,MALAT1,MAP3K11,MAP4K2,MAPK8IP1,MARK2,MDK,MED19,MEN1,METTL12,MIR1237,MIR129-2,MIR130A,MIR1343,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR3973,MIR4488,MIR4489,MIR4688,MIR4690,MIR4691,MIR548AR,MIR5582,MIR611,MIR612,MIR670,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTCH2,MTL5,MUS81,MYBPC3,MYEOV,NAA40,NAALADL1,NAT10,NDUFS3,NDUFS8,NDUFV1,NEAT1,NPAS4,NR1H3,NRXN2,NUDT22,NUDT8,NUP160,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,OTUB1,OVOL1,P2RX3,PACS1,PACSIN3,PAMR1,PATL1,PAX6,PC,PCNXL3,PDHX,PELI3,PEX16,PGA3,PGA4,PGA5,PHF21A,PITPNM1,PLA2G16,PLAC1L,PLCB3,POLA2,POLD4,POLR2G,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDM11,PRDX5,PRG2,PRG3,PRPF19,PRR5L,PRRG4,PSMC3,PTGDR2,PTPMT1,PTPRCAP,PTPRJ,PYGM,QSER1,RAB1B,RAB3IL1,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCN1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RPS6KB2,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SEC14L1P1,SERPING1,SF1,SF3B2,SIPA1,SLC15A3,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD67,SNX15,SNX32,SPDYC,SPI1,SPTBN2,SSH3,SSRP1,SSSCA1,STIP1,STX3,STX5,SUV420H1,SYT12,SYT13,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TCP11L1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TP53I11,TPCN2,TRAF6,TRIM44,TRIM48,TRIM49B,TRIM51,TRIM51GP,TRIM51HP,TRIM64C,TRMT112,TRPT1,TSGA10IP,TSPAN18,TTC17,TTC9C,TUT1,UBE2L6,UBXN1,UNC93B1,VEGFB,VPS37C,VPS51,VWCE,WDR74,WT1,WT1-AS,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF408,ZNHIT2,ZP1 chr11 31049713 31049813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13105578 13106459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1310581 1324683 Gain and loss Pancreatic cancer SNP array 17952125 AURKAIP1,CCNL2 chr1 13110197 13493039 Gain and loss Pancreatic cancer SNP array 17952125 LOC440563,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 chr11 31109008 31109323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 31133684 31384778 Loss Autism Exome sequencing and CGH 22495309 DCDC1 chr11 31152047 31152128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1311738 1324560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNL2 chr1 1311738 1324560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNL2 chr11 31183882 31184017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13118857 13121654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 31240748 31347897 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCDC1 chr11 31240748 31347897 Gain and loss Pancreatic cancer SNP array 17952125 DCDC1 chr11 31241186 31347933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCDC1 chr11 31258589 31259103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 31258589 31259103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13130041 13130147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 13132262 13443664 Gain and loss Pancreatic cancer SNP array 17952125 LOC440563,PRAMEF15,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 chr11 31337783 31359097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCDC1 chr11 31347953 31410958 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCDC1,DNAJC24 chr11 31347953 31410958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCDC1,DNAJC24 chr11 31347953 31410958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCDC1,DNAJC24 chr11 31348010 31410952 Gain and loss Pancreatic cancer SNP array 17952125 DCDC1,DNAJC24 chr11 31348401 31356200 Deletion Glioma mate-paired sequence 20126413 DCDC1 chr11 31350277 31354990 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DCDC1 chr11 31350349 31354226 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DCDC1 chr11 31350350 31354223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DCDC1 chr11 31350354 31354052 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DCDC1 chr11 3137001 3138500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OSBPL5 chr11 3138501 3210500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OSBPL5 chr11 31385932 31386031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCDC1 chr11 31410525 31487745 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAJC24,IMMP1L chr11 31410525 31487745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC24,IMMP1L chr11 31410525 31487745 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC24,IMMP1L chr11 31410525 31487745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC24,IMMP1L chr11 31413593 31413686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC24 chr11 31446165 31718680 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-706K arrays 21546498 DNAJC24,ELP4,IMMP1L chr11 31487872 31761905 Gain or loss Breast cancer - 20668451 ELP4,IMMP1L chr11 31487872 31761905 Gain or loss Cancer - 20668451 ELP4,IMMP1L chr11 31487872 31761905 Gain or loss Lung cancer - 20668451 ELP4,IMMP1L chr11 31487872 31761905 Gain or loss Ovarian cancer - 20668451 ELP4,IMMP1L chr11 31487872 31761905 Gain or loss Pancreas cancer - 20668451 ELP4,IMMP1L chr11 31487872 31761905 Gain or loss Prostate cancer - 20668451 ELP4,IMMP1L chr11 31487873 31761903 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ELP4,IMMP1L chr11 31487873 31761903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELP4,IMMP1L chr11 31487873 31761903 Gain and loss Pancreatic cancer SNP array 17952125 ELP4,IMMP1L chr11 31487873 31761903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELP4,IMMP1L chr11 3150941 3151022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL5 chr11 31510470 31740158 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ELP4,IMMP1L chr11 31517796 32050223 Loss Bladder cancer array-CGH 21909424 DKFZp686K1684,ELP4,IMMP1L,PAX6 chr11 31571247 37948309 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABTB2,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DEPDC7,DKFZp686K1684,EHF,EIF3M,ELF5,ELP4,FBXO3,FJX1,HIPK3,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PAX6,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS chr11 31635703 31681307 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ELP4 chr11 31662315 31662790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELP4 chr11 31693601 31701700 Deletion Glioma mate-paired sequence 20126413 ELP4 chr11 31704913 31749876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ELP4 chr11 31710993 31711072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELP4 chr11 31728286 31728386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELP4 chr11 31737681 31737781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELP4 chr11 31762915 31796085 Copy number Lung cancer - 20668451 ELP4 chr11 31762915 31796085 Copy number WAGR syndrome MLPA 22283845 ELP4 chr11 31762915 31796085 Deletion WAGR syndrome - 20603712 ELP4 chr11 31762915 31796085 Gain or loss Breast cancer - 20668451 ELP4 chr11 31762915 31796085 Gain or loss Cancer - 20668451 ELP4 chr11 31762915 31796085 Gain or loss Lung cancer - 20668451 ELP4 chr11 31762915 31796085 Gain or loss Ovarian cancer - 20668451 ELP4 chr11 31762915 31796085 Gain or loss Pancreas cancer - 20668451 ELP4 chr11 31762915 31796085 Gain or loss Prostate cancer - 20668451 ELP4 chr11 31762916 31796085 Copy number Autism exome sequencing 22495311 ELP4 chr11 31766868 31796085 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ELP4 chr11 31766868 31796085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELP4 chr11 31766868 31796085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELP4 chr11 31768058 31789455 Gain and loss Pancreatic cancer SNP array 17952125 ELP4 chr11 31773501 31806000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ELP4 chr11 31781480 31826515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ELP4,PAX6 chr11 31813763 31813886 Gain and loss Pancreatic cancer SNP array 17952125 PAX6 chr11 31813763 31813886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAX6 chr11 3184563 3184744 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 OSBPL5 chr11 31873290 31873618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DKFZp686K1684 chr11 3188850 3274896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRGPRE,MRGPRG,MRGPRG-AS1 chr11 31900336 31900401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686K1684 chr11 31906626 31941623 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DKFZp686K1684 chr11 31923748 31925873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 3193088 3319687 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MRGPRE,MRGPRG,MRGPRG-AS1 chr11 3193088 3376156 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MRGPRE,MRGPRG,MRGPRG-AS1 chr11 3193088 3656689 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC650368,MRGPRE,MRGPRG,MRGPRG-AS1,OR7E12P,TRPC2,ZNF195 chr11 3193954 3200653 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 3195750 3196619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3196458 3196619 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 3196897 3199390 Loss Normal 244K array 17666407 NOT_FOUND chr1 13199031 13202118 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 3199481 3200173 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 13200783 13204302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13200783 13204302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32027116 37799354 Amplification Cancer Affymetrix 250K Sty array 20164920 ABTB2,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DEPDC7,EHF,EIF3M,ELF5,FBXO3,FJX1,HIPK3,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,RCN1,SLC1A2,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS chr1 132032121 246169833 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr11 32041324 32065599 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 3205617 3210192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3205617 3210192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32059886 32060094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32059886 32060095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 3206000 3206434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 32068494 32996791 LOH Normal High-resolution SNP genotyping 21211785 CCDC73,EIF3M,PRRG4,QSER1,RCN1,WT1,WT1-AS chr11 32068501 32071000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 32069026 32083649 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 32069026 32083649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32069026 32083649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 32069026 32083649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13207251 13602250 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 chr11 32079449 32079549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 32090753 32090823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 32090753 32090823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32091021 32091096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3213101 11663300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ART1,ART5,ASCL3,C11orf16,C11orf40,C11orf42,CCKBR,CHRNA10,CNGA4,CSNK2A1P,CTR9,CYB5R2,DCHS1,DENND5A,DNHD1,EIF3F,EIF4G2,FAM160A2,FXC1,GALNTL4,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KRT8P41,LMO1,LOC100506082,LOC283299,LOC440028,LOC644656,LOC650368,LOC729013,LYVE1,MIR4485,MIR4687,MIR5691,MMP26,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NLRP10,NLRP14,NRIP3,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E12P,OVCH2,PGAP2,PPFIBP2,PRKCDBP,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RRM1,RRP8,SBF2,SBF2-AS1,SCUBE2,SMPD1,SNORA23,SNORA3,SNORA45,SNORD97,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TMEM41B,TMEM9B,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TUB,UBQLN3,UBQLNL,WEE1,ZBED5,ZNF143,ZNF195,ZNF214,ZNF215 chr11 3214550 3214615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3215746 3586484 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-717K arrays 21546498 LOC650368,MRGPRE,MRGPRG,MRGPRG-AS1,OR7E12P,ZNF195 chr11 3215866 3273837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRGPRE,MRGPRG,MRGPRG-AS1 chr11 3216111 3320743 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MRGPRE,MRGPRG,MRGPRG-AS1 chr11 32169834 32201531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 32183800 36906400 Loss Prostate cancer Array CGH 18632612 ABTB2,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DEPDC7,EHF,EIF3M,ELF5,FBXO3,FJX1,HIPK3,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,MIR1343,MIR3973,NAT10,PAMR1,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,SLC1A2,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS chr11 32183968 32184043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3218975 3271723 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRGPRE,MRGPRG,MRGPRG-AS1 chr1 13224069 13226910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13224069 13226910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32243217 32243549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 3227434 3227500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3228045 3283388 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRGPRE,MRGPRG,MRGPRG-AS1 chr11 32309896 32309954 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13232406 13241644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13232406 13241644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32337099 32337199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 32339185 32339237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 32342431 32342529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 32358001 32364500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 32365897 32413663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WT1 chr11 32365897 32413663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WT1 chr11 32365900 32413653 Gain and loss Pancreatic cancer SNP array 17952125 WT1 chr11 32365900 32413663 Deletion WAGR syndrome - 20603712 WT1 chr11 32365900 32413663 Deletion Wilms tumour References 17204608 WT1 chr11 32365900 32413663 Gain or loss Breast cancer - 20668451 WT1 chr11 32365900 32413663 Gain or loss Cancer - 20668451 WT1 chr11 32365900 32413663 Gain or loss Lung cancer - 20668451 WT1 chr11 32365900 32413663 Gain or loss Ovarian cancer - 20668451 WT1 chr11 32365900 32413663 Gain or loss Pancreas cancer - 20668451 WT1 chr11 32365900 32413663 Gain or loss Prostate cancer - 20668451 WT1 chr11 32378569 32407760 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 32387897 32388069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 32404001 32417500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WT1 chr11 32409501 32419218 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 WT1 chr11 32413701 32419526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WT1 chr11 32413701 32419526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WT1 chr11 32416051 32418194 Gain and loss Pancreatic cancer SNP array 17952125 WT1 chr11 32421376 40252688 Amplification Breast cancer Array CGH 16620391 ABTB2,APIP,C11orf74,C11orf91,CAPRIN1,CAT,CCDC73,CD44,CD59,COMMD9,CSTF3,DEPDC7,EHF,EIF3M,ELF5,FBXO3,FJX1,HIPK3,KIAA1549L,LDLRAD3,LINC00294,LMO2,LOC338739,LRRC4C,MIR1343,MIR3973,NAT10,PAMR1,PDHX,PRR5L,PRRG4,QSER1,RAG1,RAG2,SLC1A2,TCP11L1,TRAF6,TRIM44,WT1,WT1-AS chr11 32434058 32434279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WT1 chr11 32434265 32434477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WT1 chr1 13247932 13249634 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 32480283 32480368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13249634 13249635 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 13249635 13257219 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 13251736 13253824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3253859 3254169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3253965 3300772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 3254213 3319663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 32561935 32580588 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 32561967 32580588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32561967 32580588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32565265 32566713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13257219 13317495 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 13257322 13257428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32580201 32772763 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CCDC73,EIF3M chr11 32580202 32772763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC73,EIF3M chr11 32580202 32772763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC73,EIF3M chr11 32580368 32772780 Gain and loss Pancreatic cancer SNP array 17952125 CCDC73,EIF3M chr11 3258878 3318751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 3259019 3322538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 13259233 13263352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13259233 13263352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3259275 3340481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 32595928 32596010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3259597 3340124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 32615502 32653284 Loss Normal Birdsuite, version 1.5.2 22087296 CCDC73,EIF3M chr11 3266462 3266562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 32671219 33006516 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC73,PRRG4,QSER1 chr11 32672301 32672400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC73 chr11 3267601 3267752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3270476 3316289 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr1 1327164 1332524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNL2 chr1 1327164 1332524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNL2 chr11 32719288 32719408 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 CCDC73 chr1 1327995 1333854 Gain and loss Pancreatic cancer SNP array 17952125 CCNL2 chr11 32808064 32832681 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CCDC73 chr11 32808065 32832679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC73 chr11 32808065 32832679 Gain and loss Pancreatic cancer SNP array 17952125 CCDC73 chr11 32808065 32832679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC73 chr11 32816714 33041493 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 DEPDC7,PRRG4,QSER1 chr1 13284138 13287069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32871368 32958392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRRG4,QSER1 chr11 32871368 32958392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRRG4,QSER1 chr11 32905277 32962349 Gain and loss Pancreatic cancer SNP array 17952125 QSER1 chr1 13291762 13292161 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13293763 13300778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 32961402 32961502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 QSER1 chr11 32982372 32982467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QSER1 chr11 32982374 32982467 Gain and loss Pancreatic cancer SNP array 17952125 QSER1 chr11 32982375 32982467 Gain and loss Pancreatic cancer SNP array 17952125 QSER1 chr11 32993986 33011702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 QSER1 chr11 32993986 33011702 Gain and loss Pancreatic cancer SNP array 17952125 QSER1 chr11 32993986 33011702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QSER1 chr11 3299675 3299982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 33017720 33063242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEPDC7,TCP11L1 chr11 33017720 33063242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEPDC7,TCP11L1 chr11 33017720 33084064 Gain and loss Pancreatic cancer SNP array 17952125 DEPDC7,TCP11L1 chr11 33053685 33054582 Gain and loss Pancreatic cancer SNP array 17952125 DEPDC7 chr11 33053685 33054582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEPDC7 chr11 33062713 33139613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSTF3,LINC00294,TCP11L1 chr11 33062713 33139613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSTF3,LINC00294,TCP11L1 chr11 33062728 33139578 Gain and loss Pancreatic cancer SNP array 17952125 CSTF3,LINC00294,TCP11L1 chr1 1330704 1330995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNL2 chr11 33138854 33332671 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CSTF3,HIPK3,LOC338739 chr11 33149503 33149612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSTF3 chr11 33149505 33149612 Gain and loss Pancreatic cancer SNP array 17952125 CSTF3 chr11 33157052 33279568 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CSTF3,HIPK3,LOC338739 chr11 33174669 33174759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSTF3 chr11 33174671 33174755 Gain and loss Pancreatic cancer SNP array 17952125 CSTF3 chr11 33174671 33174764 Gain and loss Pancreatic cancer SNP array 17952125 CSTF3 chr1 13317495 13340609 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PRAMEF22,PRAMEF3 chr1 13320001 13325243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 33235744 33332515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIPK3 chr11 33235744 33332515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIPK3 chr11 33264531 33331690 Gain and loss Pancreatic cancer SNP array 17952125 HIPK3 chr11 33332587 33332667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIPK3 chr11 33356027 33356127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIPK3 chr11 33363352 34518823 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABTB2,C11orf91,CAPRIN1,CAT,CD59,ELF5,FBXO3,HIPK3,KIAA1549L,LMO2,NAT10 chr11 33363352 34988152 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABTB2,APIP,C11orf91,CAPRIN1,CAT,CD59,EHF,ELF5,FBXO3,HIPK3,KIAA1549L,LMO2,MIR1343,NAT10,PDHX chr11 3336584 3356991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3336584 3356991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3336924 3355707 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 33386088 33431268 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 3340402 3340471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13340609 13344532 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 3344088 3345966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13344532 13379464 Gain Normal Birdsuite, version 1.5.2 22087296 PRAMEF5,PRAMEF6 chr1 13346640 13350156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 33494249 33494571 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 3350546 3361343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 33506424 33664012 Gain or loss Breast cancer - 20668451 KIAA1549L chr11 33506424 33664012 Gain or loss Cancer - 20668451 KIAA1549L chr11 33506424 33664012 Gain or loss Lung cancer - 20668451 KIAA1549L chr11 33506424 33664012 Gain or loss Ovarian cancer - 20668451 KIAA1549L chr11 33506424 33664012 Gain or loss Pancreas cancer - 20668451 KIAA1549L chr11 33506424 33664012 Gain or loss Prostate cancer - 20668451 KIAA1549L chr11 3351536 134452384 Loss Wilms tumour 250K Genotyping Arrays 21544195 AASDHPPT,ABCC8,ABCG4,ABTB2,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,AMPD3,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,ANO3,ANO5,AP5B1,APBB1,API5,APIP,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARFIP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ART1,ART5,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBOX1,BBS1,BCL9L,BCO2,BDNF,BDNF-AS,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD10,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf16,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf40,C11orf42,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf58,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf74,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf91,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CAT,CATSPER1,CBL,CCDC15,CCDC153,CCDC34,CCDC67,CCDC73,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCKBR,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD44,CD5,CD59,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CELF1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHRNA10,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNGA4,CNIH2,CNTF,CNTN5,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYB5R2,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DCHS1,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DLAT,DLG2,DNAJB13,DNAJC24,DNAJC4,DNHD1,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,E2F8,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EHF,EI24,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELMOD1,ELP4,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM160A2,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FANCF,FAR1,FAT3,FAU,FBXO3,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FSHB,FTH1,FUT4,FXC1,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GTF2H1,GUCY1A2,GUCY2EP,GVINP1,GYLTL1B,H2AFX,HARBI1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HEPACAM,HEPHL1,HEPN1,HINFP,HIPK3,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HPX,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTATIP2,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF22,IGSF9B,IL10RA,IL18,IL18BP,ILK,IMMP1L,INCENP,INPPL1,INSC,INTS4,INTS5,IPO7,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ1,KCNJ11,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1549L,KIAA1731,KIF18A,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRT8P41,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00167,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100500938,LOC100506082,LOC100506233,LOC100506305,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC221122,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC283299,LOC338739,LOC341056,LOC440028,LOC440040,LOC441601,LOC494141,LOC643037,LOC643733,LOC643923,LOC644656,LOC646813,LOC649133,LOC650368,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRN4CL,LRTOMT,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,METTL15,MFRP,MICAL2,MICALCL,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR3973,MIR4299,MIR4300,MIR4301,MIR4485,MIR4486,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4687,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4694,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5691,MIR5692A1,MIR610,MIR611,MIR612,MIR670,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP26,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPPED2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL17,MRPL21,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MTRNR2L8,MUC15,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCAM1,NCAPD3,NCR3LG1,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NFRKB,NLRP10,NLRP14,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRIP3,NRXN2,NTM,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NUP98,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OLFML1,OMP,OPCML,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2AT4,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E12P,OR7E14P,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVCH2,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PAMR1,PANX1,PANX3,PARVA,PATE1,PATE2,PATE3,PATE4,PATL1,PAX6,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDE3B,PDGFD,PDHX,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGAP2,PGM2L1,PGR,PHF21A,PHLDB1,PHOX2A,PICALM,PIH1D2,PIK3C2A,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPFIBP2,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKCDBP,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PRSS23,PSMA1,PSMC3,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,QSER1,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RBMXL2,RCE1,RCN1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RHOG,RIC3,RIN1,RNASEH2C,RNF121,RNF141,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPL27A,RPLP0P2,RPS13,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RRAS2,RRM1,RRP8,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCUBE2,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SLN,SMPD1,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA23,SNORA25,SNORA3,SNORA32,SNORA40,SNORA45,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNORD97,SNX15,SNX19,SNX32,SORL1,SOX6,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,ST5,STARD10,STIM1,STIP1,STK33,STT3A,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYT9,SYTL2,SYVN1,TAF10,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM41B,TMEM45B,TMEM86A,TMEM9B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TP53I11,TPBGL,TPCN2,TPH1,TPP1,TRAF6,TRAPPC4,TREH,TRIM21,TRIM22,TRIM29,TRIM3,TRIM34,TRIM44,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM5,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM6,TRIM6-TRIM34,TRIM64,TRIM64B,TRIM64C,TRIM66,TRIM68,TRIM77P,TRMT112,TRPC2,TRPC6,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TTC12,TTC17,TTC36,TTC9C,TUB,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBQLN3,UBQLNL,UBTFL1,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,UPK2,USH1C,USP2,USP28,USP35,USP47,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBED5,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF195,ZNF202,ZNF214,ZNF215,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr11 33520397 33652224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1549L chr11 33520397 33652224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1549L chr11 33521052 33646276 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1549L chr11 33531137 33531237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 33616527 33616586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1549L chr11 33624789 33624943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1549L chr11 33639865 33639959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1549L chr11 33640749 33640849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1549L chr11 33644004 33644104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1549L chr11 33649847 33652220 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1549L chr11 33676484 33678862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1549L chr11 33676484 33678862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1549L chr1 13367853 13370847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF5,PRAMEF6 chr11 33681134 33714600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1549L chr11 33681134 33714600 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1549L chr11 33681134 33714600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1549L chr11 3368625 3369543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 33692365 33692458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1549L chr11 33717549 33717765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 33719066 33752647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf91,CD59 chr11 33719066 33752647 Gain and loss Pancreatic cancer SNP array 17952125 C11orf91,CD59 chr11 33719066 33752647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf91,CD59 chr11 3374408 3376996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13374687 13488491 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF8,PRAMEF9 chr11 33764927 33765027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXO3 chr11 33767470 38821882 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABTB2,APIP,C11orf74,CAPRIN1,CAT,CD44,COMMD9,EHF,ELF5,FBXO3,FJX1,LDLRAD3,LMO2,MIR1343,MIR3973,NAT10,PAMR1,PDHX,PRR5L,RAG1,RAG2,SLC1A2,TRAF6,TRIM44 chr11 3377988 3378061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 3379554 3386620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF195 chr11 3380055 3568983 Substitutions and indels small cell lung cancer array-CGH 20016488 LOC650368,OR7E12P,ZNF195 chr11 33826674 33829448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 3382858 3382958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF195 chr11 33836698 33870412 Copy number Lung cancer - 20668451 NOT_FOUND chr11 33836698 33870412 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 33836698 33870412 Gain or loss Cancer - 20668451 NOT_FOUND chr11 33836698 33870412 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 33836698 33870412 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 33836698 33870412 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 33836698 33870412 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 33836701 33870412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 33836701 33870412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 33844431 33878145 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 33857042 33857142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 33858765 33859914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 33858765 33859914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3386461 3400303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF195 chr11 33874000 34029000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 LMO2 chr1 13388653 13399530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF8 chr11 3392728 3393463 Gain and loss Pancreatic cancer SNP array 17952125 ZNF195 chr11 3392728 3393463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF195 chr11 34005172 34005375 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 34009728 34254518 Copy number Lung cancer paired-end sequencing 18438408 ABTB2,CAPRIN1,NAT10 chr11 34014988 36240687 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-691K arrays 21546498 ABTB2,APIP,CAPRIN1,CAT,CD44,EHF,ELF5,FJX1,LDLRAD3,MIR1343,MIR3973,NAT10,PAMR1,PDHX,SLC1A2,TRIM44 chr11 34015713 34015813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 34029748 34078677 Gain and loss Pancreatic cancer SNP array 17952125 CAPRIN1 chr11 34029806 34080733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPRIN1 chr11 34029806 34080733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPRIN1 chr11 34049736 34050027 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr11 34065445 34065753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 34083623 34083663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPRIN1 chr11 34083725 34125033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPRIN1 chr11 34083725 34125033 Gain and loss Pancreatic cancer SNP array 17952125 CAPRIN1 chr11 34083725 34125033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPRIN1 chr11 34087049 34087149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPRIN1 chr1 13409454 13410575 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 34112001 34125500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPRIN1 chr11 34117365 34117365 Copy number Prostate cancer Illumina GA II sequencer 21307934 CAPRIN1 chr11 34125501 34153500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NAT10 chr11 34127939 34130596 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NAT10 chr11 34129111 34335378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABTB2,NAT10 chr11 34129111 34335378 Gain and loss Pancreatic cancer SNP array 17952125 ABTB2,NAT10 chr11 34129111 34335378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABTB2,NAT10 chr11 34130248 34130338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAT10 chr11 34153501 34265500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABTB2,NAT10 chr11 34167297 34167396 Gain and loss Pancreatic cancer SNP array 17952125 NAT10 chr11 34167297 34167398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAT10 chr11 34167298 34167394 Gain and loss Pancreatic cancer SNP array 17952125 NAT10 chr11 34268868 36601076 Copy number Lung cancer paired-end sequencing 18438408 ABTB2,APIP,CAT,CD44,COMMD9,EHF,ELF5,FJX1,LDLRAD3,MIR1343,MIR3973,PAMR1,PDHX,PRR5L,RAG1,SLC1A2,TRAF6,TRIM44 chr11 3427023 3427483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC650368 chr11 34313585 34314125 Gain and loss Pancreatic cancer SNP array 17952125 ABTB2 chr11 34382786 34383072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1 34400000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCDC28B,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,COL16A1,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSMD2,CTNNBIP1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DNAJC8,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF3I,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FNDC5,FUCA1,GABRD,GALE,GLTPD1,GMEB1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,IQCC,ISG15,KAZN,KCNAB2,KDM1A,KHDRBS1,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3605,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTAFR,PTCHD2,PTP4A2,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,S100PBP,SAMD11,SCARNA1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,THEMIS2,TINAGL1,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YARS,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr1 1 34400000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCDC28B,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,COL16A1,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSMD2,CTNNBIP1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DNAJC8,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF3I,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FNDC5,FUCA1,GABRD,GALE,GLTPD1,GMEB1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,IQCC,ISG15,KAZN,KCNAB2,KDM1A,KHDRBS1,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3605,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTAFR,PTCHD2,PTP4A2,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,S100PBP,SAMD11,SCARNA1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,THEMIS2,TINAGL1,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YARS,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr11 34409003 34409772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 34417054 34450176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 34417054 34450176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 34417069 34450183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 34456918 34491906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAT chr11 34456918 34491906 Gain and loss Pancreatic cancer SNP array 17952125 CAT chr11 34456918 34491906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAT chr11 3452950 3453001 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 34562011 34732028 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EHF chr11 34599243 34639657 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 34599244 34639657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 34599244 34639657 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 34599244 34639657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1 34600000 Deletion Hepatocellular carcinoma Array CGH 16750200 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCDC28B,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,COL16A1,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSMD2,CTNNBIP1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DNAJC8,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF3I,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FNDC5,FUCA1,GABRD,GALE,GLTPD1,GMEB1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,IQCC,ISG15,KAZN,KCNAB2,KDM1A,KHDRBS1,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3605,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTAFR,PTCHD2,PTP4A2,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,S100PBP,SAMD11,SCARNA1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,THEMIS2,TINAGL1,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YARS,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr11 34684698 34685192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EHF chr11 34685841 35066251 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APIP,MIR1343,PDHX chr11 34743700 34743813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13479789 13517623 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PRAMEF16,PRAMEF20 chr1 13479789 13517623 Gain or loss Normal aCGH 21627829 PRAMEF16,PRAMEF20 chr1 13479789 13595707 Gain Normal aCGH 21627829 PRAMEF16,PRAMEF20,PRAMEF21 chr1 13480018 13484137 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 13480018 13484137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13480018 13484137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3483885 3656689 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TRPC2 chr11 34860421 34894472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 34860421 34894472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 34860421 34894484 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 34860421 34894484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 34878250 34878350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 34892945 35355461 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-672K arrays 21546498 APIP,CD44,MIR1343,PDHX,SLC1A2 chr11 34894695 34974092 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 APIP,MIR1343,PDHX chr11 34894695 34974092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APIP,MIR1343,PDHX chr11 34894695 34974092 Gain and loss Pancreatic cancer SNP array 17952125 APIP,MIR1343,PDHX chr11 34894695 34974092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APIP,MIR1343,PDHX chr1 1349033 1350503 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 34986509 35183360 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD44,PDHX chr1 13504935 13507866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13504935 13507866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35052185 35052272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 35059766 35059866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 35085748 36628245 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf74,CD44,COMMD9,FJX1,LDLRAD3,MIR3973,PAMR1,PRR5L,RAG1,RAG2,SLC1A2,TRAF6,TRIM44 chr11 35106667 35106791 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 35116993 35210513 Gain and loss Pancreatic cancer SNP array 17952125 CD44 chr11 35116993 35210522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CD44 chr11 35116993 35210522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD44 chr11 35116993 35210522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD44 chr11 35119053 35119157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 35128685 35341008 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD44,SLC1A2 chr1 1351371 1353030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1351371 1353030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13514559 13521574 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 PRAMEF20 chr1 13514560 13521575 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRAMEF20 chr1 13514560 13521575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF20 chr1 13514560 13521575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF20 chr11 35159515 35159615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 35201150 35215983 Gain Normal Birdsuite, version 1.5.2 22087296 CD44 chr11 35221543 35254186 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD44 chr11 35228539 35228639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD44 chr11 35229327 35398100 Deleted Non-syndromic sensorineural hearing loss - 19222835 CD44,SLC1A2 chr11 35229329 35397372 Gain and loss Pancreatic cancer SNP array 17952125 CD44,SLC1A2 chr11 35229329 35398186 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CD44,SLC1A2 chr11 35229329 35398186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD44,SLC1A2 chr11 35229329 35398186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD44,SLC1A2 chr11 3527551 3528325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35275896 35437098 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC1A2 chr11 3529030 4544172 LOH Normal High-resolution SNP genotyping 21211785 ART1,ART5,CHRNA10,LOC100506082,MIR4687,NUP98,OR52B4,OR52K1,OR52K2,PGAP2,RHOG,RRM1,STIM1,TRIM21,TRPC2 chr1 13530456 13569207 Gain Normal aCGH 21627829 NOT_FOUND chr11 35317771 35318771 Gain Renal cell carcinoma References 21215367 SLC1A2 chr11 3535148 3535295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35352182 35352282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC1A2 chr11 35352388 35352597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC1A2 chr11 35370053 35370116 Gain and loss Pancreatic cancer SNP array 17952125 SLC1A2 chr11 35370053 35370116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC1A2 chr11 3537463 3537821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13538227 13649403 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 chr1 1 35400000 Duplication Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf212,C1orf213,C1orf233,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCDC28B,CCNL2,CD164L2,CD52,CDA,CDC42,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,COL16A1,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSMD2,CTNNBIP1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DNAJC11,DNAJC16,DNAJC8,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF3I,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FLJ37453,FLJ42875,FNDC5,FUCA1,GABRD,GALE,GJA4,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,IQCC,ISG15,KAZN,KCNAB2,KDM1A,KHDRBS1,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3605,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRTO4,MST1P2,MST1P9,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTAFR,PTCHD2,PTP4A2,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,S100PBP,SAMD11,SCARNA1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SFN,SH2D5,SH3BGRL3,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,THAP3,THEMIS2,TINAGL1,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YARS,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr1 13540856 13546098 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 13540856 13546098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13540856 13546098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35409951 35503752 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PAMR1,SLC1A2 chr11 35409956 35504155 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAMR1,SLC1A2 chr11 35409956 35504155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAMR1,SLC1A2 chr11 35409956 35504155 Gain and loss Pancreatic cancer SNP array 17952125 PAMR1,SLC1A2 chr11 35409956 35504155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAMR1,SLC1A2 chr11 35425351 35425472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC1A2 chr1 13546753 13585464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1355501 1481000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD65,ATAD3A,ATAD3B,ATAD3C,SSU72,TMEM240,TMEM88B,VWA1 chr11 3558409 3559454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35593142 35593242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 35596631 35598988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 35596761 35598121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35602616 35602716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 35640929 35786333 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FJX1,TRIM44 chr11 35640929 35786333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FJX1,TRIM44 chr11 35640929 35786333 Gain and loss Pancreatic cancer SNP array 17952125 FJX1,TRIM44 chr11 35640929 35786333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FJX1,TRIM44 chr1 13565810 13568801 Loss Normal aCGH 21627829 NOT_FOUND chr11 35663356 35833025 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TRIM44 chr1 13567476 13570992 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 13567476 13570992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13567476 13570992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3569083 3569421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35732603 35732703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM44 chr11 3573460 3758005 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ART1,ART5,CHRNA10,NUP98,TRPC2 chr1 13576157 13583970 Loss Normal aCGH 21627829 NOT_FOUND chr11 3577401 3578512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13579539 13583970 Loss Normal aCGH 21627829 NOT_FOUND chr11 3581883 18629631 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCC8,ADM,AKIP1,AMPD3,APBB1,ARFIP2,ARNTL,ART1,ART5,ASCL3,BTBD10,C11orf16,C11orf40,C11orf42,C11orf58,CALCA,CALCB,CCKBR,CHRNA10,CNGA4,COPB1,CSNK2A1P,CTR9,CYB5R2,CYP2R1,DCHS1,DENND5A,DKK3,DNHD1,EIF3F,EIF4G2,FAM160A2,FAR1,FXC1,GALNTL4,GTF2H1,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPS5,HPX,ILK,INSC,IPO7,KCNC1,KCNJ11,KRT8P41,LDHA,LDHAL6A,LDHC,LMO1,LOC100506082,LOC100506305,LOC283299,LOC440028,LOC494141,LOC644656,LOC729013,LYVE1,MICAL2,MICALCL,MIR4299,MIR4485,MIR4687,MIR5691,MMP26,MRGPRX3,MRGPRX4,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,MYOD1,NCR3LG1,NLRP10,NLRP14,NRIP3,NUCB2,NUP98,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B4,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52L1,OR52M1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OR7E14P,OVCH2,PARVA,PDE3B,PGAP2,PIK3C2A,PLEKHA7,PPFIBP2,PRKCDBP,PSMA1,PTH,RASSF10,RBMXL2,RHOG,RIC3,RNF141,RPL27A,RPS13,RRAS2,RRM1,RRP8,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCUBE2,SERGEF,SMPD1,SNORA23,SNORA3,SNORA45,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STIM1,STK33,SWAP70,SYT9,TAF10,TEAD1,TMEM41B,TMEM9B,TPH1,TPP1,TRIM21,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TRIM68,TRPC2,TSG101,TUB,UBQLN3,UBQLNL,UEVLD,USH1C,USP47,WEE1,ZBED5,ZNF143,ZNF214,ZNF215 chr11 35837051 35837151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 35838370 35839673 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 35838370 35839673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35840067 35840167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3587707 3592608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 13588675 13591651 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 13588687 13591651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 13588687 13591651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35921787 35921922 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr11 35922204 36210262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LDLRAD3,MIR3973 chr11 35922204 36210262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDLRAD3,MIR3973 chr11 35922204 36210262 Gain and loss Pancreatic cancer SNP array 17952125 LDLRAD3,MIR3973 chr11 35922204 36210262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDLRAD3,MIR3973 chr11 3595038 3604325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 35976556 36010662 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LDLRAD3 chr11 359804 372116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B4GALNT4 chr11 359804 372116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B4GALNT4 chr11 35993858 35993958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDLRAD3 chr1 1 3600000 Copy number Miller-Dieker syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACAP3,ACTRT2,AGRN,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100288069,LOC115110,LOC148413,LOC254099,LOC643837,LOC729737,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr11 360223 360330 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr11 36031333 36031365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDLRAD3 chr11 36042477 36042537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDLRAD3 chr11 3606503 3615365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3606503 3615365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3606527 3612883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1360772 1366008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM88B chr1 1360772 1366008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM88B chr11 36079868 36079968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDLRAD3 chr1 13609494 13620390 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRAMEF7,PRAMEF8 chr1 13609494 13620390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF7,PRAMEF8 chr1 13609494 13620390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF7,PRAMEF8 chr11 36096510 36333358 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COMMD9,LDLRAD3,PRR5L chr11 36106218 36299593 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 COMMD9,LDLRAD3 chr11 36110081 36110181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDLRAD3 chr11 36122378 36122468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDLRAD3 chr11 3616311 3620122 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 3616312 3620122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3616312 3620122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 36164754 36164842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDLRAD3 chr11 3622937 3642222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3622937 3642222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 3622937 3642222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 36247410 36251485 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LDLRAD3 chr11 36247410 36251485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDLRAD3 chr11 36247410 36251485 Gain and loss Pancreatic cancer SNP array 17952125 LDLRAD3 chr11 36247410 36251485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDLRAD3 chr11 36251627 36267547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LDLRAD3 chr11 36251627 36267547 Gain and loss Pancreatic cancer SNP array 17952125 LDLRAD3 chr11 36252086 36267554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDLRAD3 chr11 36252086 36267554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDLRAD3 chr11 3625683 3638563 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr11 36267447 36267547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13626841 13627500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 36278308 36278408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 36292648 36292871 Loss Normal 244K array 17666407 NOT_FOUND chr11 36298611 36299100 Gain Normal 244K array 17666407 COMMD9 chr11 36299628 36300413 Gain Normal 244K array 17666407 COMMD9 chr11 36325264 36325363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRR5L chr11 36340037 36340217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRR5L chr11 36354131 36443329 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRR5L chr11 36354131 36443329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR5L chr11 36354131 36443329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR5L chr11 36385851 36385951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRR5L chr11 36400000 43400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 API5,C11orf74,HNRNPKP3,LOC100507205,LRRC4C,PRR5L,RAG1,RAG2,TRAF6,TTC17 chr11 36400000 43400000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 API5,C11orf74,HNRNPKP3,LOC100507205,LRRC4C,PRR5L,RAG1,RAG2,TRAF6,TTC17 chr11 36400000 43400000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 API5,C11orf74,HNRNPKP3,LOC100507205,LRRC4C,PRR5L,RAG1,RAG2,TRAF6,TTC17 chr11 3641621 3641717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3641623 3641717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 3641624 3641716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 36417534 36628245 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf74,PRR5L,RAG1,RAG2,TRAF6 chr11 3642969 3643065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3642971 3643065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 3642972 3643064 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 36433415 36441799 Gain and loss Pancreatic cancer SNP array 17952125 PRR5L chr11 3643394 3649190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC2 chr11 3643394 3649190 Gain and loss Pancreatic cancer SNP array 17952125 TRPC2 chr11 3643394 3649190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC2 chr11 36467298 36488398 Gain or loss Breast cancer - 20668451 PRR5L chr11 36467298 36488398 Gain or loss Cancer - 20668451 PRR5L chr11 36467298 36488398 Gain or loss Lung cancer - 20668451 PRR5L chr11 36467298 36488398 Gain or loss Ovarian cancer - 20668451 PRR5L chr11 36467298 36488398 Gain or loss Pancreas cancer - 20668451 PRR5L chr11 36467298 36488398 Gain or loss Prostate cancer - 20668451 PRR5L chr11 36467299 36488398 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRR5L chr11 36467299 36488398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR5L chr11 36467299 36488398 Gain and loss Pancreatic cancer SNP array 17952125 PRR5L chr11 36467299 36488398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR5L chr11 36467531 36488372 Amplification Lung cancer aCGH 21911935 PRR5L chr11 36493589 36571280 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 TRAF6 chr11 36509323 36523168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRAF6 chr11 36512612 36523222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRAF6 chr11 3652815 3775468 Gain or loss Breast cancer - 20668451 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 3652815 3775468 Gain or loss Cancer - 20668451 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 3652815 3775468 Gain or loss Lung cancer - 20668451 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 3652815 3775468 Gain or loss Ovarian cancer - 20668451 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 3652815 3775468 Gain or loss Pancreas cancer - 20668451 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 3652815 3775468 Gain or loss Prostate cancer - 20668451 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 3652817 3775353 Gain and loss Pancreatic cancer SNP array 17952125 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 3652817 3775468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 3652817 3775468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ART1,ART5,CHRNA10,NUP98,TRPC2 chr11 36546138 36557886 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 36546139 36557862 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 36546139 36557862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 36546139 36557862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 36546139 36599696 Gain and loss Pancreatic cancer SNP array 17952125 RAG1 chr1 13655558 13689758 Gain and loss Pancreatic cancer SNP array 17952125 PRAMEF14 chr11 36570068 36576388 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 NOT_FOUND chr11 36570071 36576362 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 36570071 36576362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 36570071 36576388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 36570071 36576388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 36572645 36637396 Gain and loss Pancreatic cancer SNP array 17952125 C11orf74,RAG1,RAG2 chr11 36572646 36637397 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C11orf74,RAG1,RAG2 chr11 36572646 36637397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf74,RAG1,RAG2 chr11 36572646 36637397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf74,RAG1,RAG2 chr11 36575000 36583000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr11 36582372 36595940 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 RAG1 chr1 13658511 13659511 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr11 36604033 36611387 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 3660549 3783054 Amplification or deletion Cancer Array CGH 17440070 ART1,ART5,CHRNA10,NUP98 chr11 36616581 55304674 Copy number Lung cancer paired-end sequencing 18438408 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,API5,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf74,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,HNRNPKP3,HSD17B12,KBTBD4,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,LRRC4C,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAG2,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM48,TRIM49B,TRIM51GP,TRIM51HP,TRIM64C,TSPAN18,TTC17,ZNF408 chr11 36647400 36695473 Gain Normal Birdsuite, version 1.5.2 22087296 C11orf74 chr11 36668226 36773732 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C11orf74 chr11 3669853 3669949 Gain and loss Pancreatic cancer SNP array 17952125 ART1 chr11 3669853 3669949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ART1 chr11 36704501 36704601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 36734378 36734689 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 13674057 13712829 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRAMEF18,PRAMEF19 chr1 13674057 13712829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF18,PRAMEF19 chr1 13674057 13712829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRAMEF18,PRAMEF19 chr11 36741344 36746668 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 36743036 36743116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 36902885 38597857 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 36902885 39204202 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 36903443 36903533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 36907611 36907711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3692578 3692644 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA10 chr11 3692578 3692644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA10 chr11 369614 889576 LOH Normal High-resolution SNP genotyping 21211785 ANO9,B4GALNT4,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,NS3BP,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 chr11 36973118 36973216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13699499 13729840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRAMEF17 chr1 13703176 13704176 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 1370430 1429557 Loss Autism qPCR 20531469 ATAD3B,ATAD3C,VWA1 chr11 37053465 37053573 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13706706 14067130 Deletion Breast cancer FISH 17142309 LRRC38,PDPN,PRAMEF17,PRAMEF20,PRAMEF21,PRDM2 chr11 37090274 37093845 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 37092580 37092680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37160971 37193803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 37184476 37184576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37195027 37195127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37214109 37214199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13722829 13723829 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr11 37262173 37262243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13731635 13731966 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr11 37325871 37325957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37326709 37326809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 373554 2917788 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ANO9,AP2A2,ASCL2,B4GALNT4,BRSK2,C11orf21,C11orf35,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM10,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC143666,LOC255512,LOC338651,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NS3BP,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC22A18AS,SLC25A22,SNORA52,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRPM5,TSPAN32,TSPAN4,TSSC4 chr1 13737645 13782952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRAMEF20,PRAMEF21 chr11 37405381 37405472 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 37405381 37405472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 37429062 37429162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13746060 13926061 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LRRC38,PDPN,PRAMEF20,PRAMEF21 chr1 1374932 1394342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD3C,VWA1 chr1 1374932 1394342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD3C,VWA1 chr1 13754083 13754781 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 13754083 13754781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 37544560 37544621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 3759200 3759263 Gain and loss Pancreatic cancer SNP array 17952125 NUP98 chr11 37623207 37623513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 37635863 37918507 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 13767870 13767970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 37686122 37686222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37686392 37842579 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr11 37706099 37706297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37706166 37706297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37722350 37722450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37749795 37749923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 3775532 3804176 Gain and loss Pancreatic cancer SNP array 17952125 NUP98 chr11 3775718 3804177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP98 chr11 3775718 3804177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP98 chr1 13776656 13896881 Gain and loss Pancreatic cancer SNP array 17952125 LRRC38 chr11 37767516 37767616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13782839 13817039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC38 chr1 13782839 13817039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC38 chr11 37848036 37848087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 37909295 37986046 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 37918507 37951879 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 37918622 37918946 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 37951879 39950282 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 37972641 37972736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 38041184 38041284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 13804287 13804348 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 LRRC38 chr11 3804784 3818789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP98 chr11 3804784 3818789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP98 chr11 3804788 3818760 Gain and loss Pancreatic cancer SNP array 17952125 NUP98 chr11 380479 380818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 B4GALNT4 chr11 38056153 38056483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 38084131 38120403 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 13813650 13813750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC38 chr11 38167296 38199038 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 38171500 39449214 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr1 13822266 13822366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC38 chr11 38249818 38282959 Loss Asthma Illumina 550K SNP array 20841430 NOT_FOUND chr11 38256587 38257720 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 38257329 38257688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 38307265 38912117 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr11 3833509 4071013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4687,PGAP2,RHOG,STIM1 chr11 3833509 4071013 Gain and loss Pancreatic cancer SNP array 17952125 MIR4687,PGAP2,RHOG,STIM1 chr11 3833509 4071013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4687,PGAP2,RHOG,STIM1 chr11 38372957 38381250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 38375581 38409015 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 38413760 38420516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 38417261 38417361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 384217 394907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKP3 chr11 384217 394907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKP3 chr11 38524355 38524455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 38530874 38530974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 38591857 43614142 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 API5,HNRNPKP3,LOC100507205,LRRC4C,MIR129-2,MIR670,TTC17 chr1 13865067 14783592 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PDPN,PRDM2 chr11 3870199 3870690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 3870228 3870693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 38735467 38770185 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 387832 387932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 38801059 38801256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 38857271 39950282 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 38871626 38871671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 38872151 40598903 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRRC4C chr11 38893850 39061298 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr11 38895373 38895443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 38936255 38936349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 38967316 38967381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13899322 14024162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDPN chr1 13899322 14024162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDPN chr11 3899429 3899584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STIM1 chr11 3900373 3900509 Gain and loss Pancreatic cancer SNP array 17952125 STIM1 chr11 3900373 3900509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STIM1 chr11 39012483 39012583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 39072047 39072371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 39089470 39089534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 391001 410000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PKP3,SIGIRR chr11 3921300 4397414 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100506082,OR52B4,RRM1,STIM1 chr11 39239233 39239339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 39239233 39239339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 39239234 39239338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 39339129 39384469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 39366236 39366459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 3938932 3939437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STIM1 chr1 13947604 13947688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 39499538 39857128 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr11 39545852 39545939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 39555258 43389924 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 API5,HNRNPKP3,LOC100507205,LRRC4C,TTC17 chr11 395716 407397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKP3,SIGIRR chr11 395716 407397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKP3,SIGIRR chr1 1 39600000 Copy number Small bowel adenocarcinoma BAC arrays and 30K oligonucleotide arrays 21586687 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf212,C1orf213,C1orf216,C1orf233,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCDC28B,CCNL2,CD164L2,CD52,CDA,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DNAJC11,DNAJC16,DNAJC8,DNALI1,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IQCC,ISG15,KAZN,KCNAB2,KDM1A,KHDRBS1,KIAA0319L,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYCBP,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,POU3F1,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PSMB2,PTAFR,PTCHD2,PTP4A2,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TEKT2,TFAP2E,THAP3,THEMIS2,THRAP3,TINAGL1,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YARS,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr1 1 39600000 Gain Gastric cancer - 21586687 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf212,C1orf213,C1orf216,C1orf233,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCDC28B,CCNL2,CD164L2,CD52,CDA,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DNAJC11,DNAJC16,DNAJC8,DNALI1,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IQCC,ISG15,KAZN,KCNAB2,KDM1A,KHDRBS1,KIAA0319L,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYCBP,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,POU3F1,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PSMB2,PTAFR,PTCHD2,PTP4A2,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TEKT2,TFAP2E,THAP3,THEMIS2,THRAP3,TINAGL1,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YARS,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr1 1 39600000 Loss Glioblastoma multiforme aCGH 21080181 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf212,C1orf213,C1orf216,C1orf233,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCDC28B,CCNL2,CD164L2,CD52,CDA,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DNAJC11,DNAJC16,DNAJC8,DNALI1,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IQCC,ISG15,KAZN,KCNAB2,KDM1A,KHDRBS1,KIAA0319L,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYCBP,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,POU3F1,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PSMB2,PTAFR,PTCHD2,PTP4A2,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TEKT2,TFAP2E,THAP3,THEMIS2,THRAP3,TINAGL1,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YARS,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr11 3960254 4105524 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 STIM1 chr11 3964888 3964977 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STIM1 chr11 3966963 3967268 Gain and loss Pancreatic cancer SNP array 17952125 STIM1 chr11 3966963 3967268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STIM1 chr11 39671000 39746000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 NOT_FOUND chr11 39673303 39675488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 1397006 1421444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD3B,ATAD3C chr11 39742482 39742550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 39745004 39745075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 39745004 39745075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 39745077 39745144 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 39745077 39745144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 139759582 140895706 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr11 39759701 39764000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 39761691 39762025 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 13981888 13981888 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr11 39839632 39839720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 39882026 40007110 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr11 399846 1051564 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANO9,AP2A2,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,MUC6,NS3BP,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 chr11 39992977 39998431 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 40092329 40272240 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRRC4C chr11 40092329 40272240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC4C chr11 40092329 40272240 Gain and loss Pancreatic cancer SNP array 17952125 LRRC4C chr11 40092329 40272240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC4C chr11 4012521 4399615 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100506082,OR52B4,RRM1,STIM1 chr11 40200000 42900000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 LOC100507205,LRRC4C chr11 40215191 40259577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC4C chr11 40262234 40262314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 40300000 135374737 Gain Normal Human genome CGH 39k ARRAY PLATFORM 22144094 AASDHPPT,ABCG4,ACAD8,ACAT1,ACCS,ACCSL,ACER3,ACP2,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AGBL2,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH3,ALKBH8,ALX4,AMBRA1,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,API5,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARFGAP2,ARHGAP1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG13,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf49,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf94,C11orf95,C11orf96,C1QTNF4,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CELF1,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CHRM4,CHST1,CKAP5,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CREBZF,CRTAM,CRY2,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDB2,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DGKZ,DHCR7,DIXDC1,DKFZP434K028,DKFZp779M0652,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM180B,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FNBP4,FOLH1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,GYLTL1B,H2AFX,HARBI1,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSD17B12,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KBTBD4,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100507205,LOC100507300,LOC100507384,LOC100652768,LOC100996455,LOC101054525,LOC221122,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC440040,LOC441601,LOC643037,LOC643733,LOC643923,LOC646813,LOC649133,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MADD,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MCAM,MDK,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR129-2,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4688,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5582,MIR5692A1,MIR611,MIR612,MIR670,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTCH2,MTL5,MTMR2,MTNR1B,MUS81,MYBPC3,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NR1H3,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NUP160,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PEX16,PGA3,PGA4,PGA5,PGM2L1,PGR,PHF21A,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDM11,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PSMC3,PTGDR2,PTPMT1,PTPRCAP,PTPRJ,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RAPSN,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SEC14L1P1,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNORD67,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPI1,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT13,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TP53I11,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49B,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51GP,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM64C,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TSPAN18,TTC12,TTC17,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNF408,ZNHIT2,ZP1,ZW10 chr1 1 40300000 Duplication Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BMP8A,BMP8B,BSDC1,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf212,C1orf213,C1orf216,C1orf233,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CCDC28B,CCNL2,CD164L2,CD52,CDA,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DNAJC11,DNAJC16,DNAJC8,DNALI1,DRAXIN,DVL1,E2F2,ECE1,EFHD2,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HEYL,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IQCC,ISG15,KAZN,KCNAB2,KDM1A,KHDRBS1,KIAA0319L,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MEGF6,MFAP2,MFN2,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYCBP,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,POU3F1,PPIE,PPIEL,PPP1R8,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PSMB2,PTAFR,PTCHD2,PTP4A2,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TEKT2,TFAP2E,THAP3,THEMIS2,THRAP3,TINAGL1,TMCO4,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDTC1,WNT4,WRAP73,XKR8,YARS,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr11 40329690 40329796 Gain and loss Pancreatic cancer SNP array 17952125 LRRC4C chr11 40329690 40329798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC4C chr11 40333699 41710577 Loss Prostate cancer Array CGH 18632612 LRRC4C chr1 14035681 14039589 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRDM2 chr11 4035894 4196033 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RRM1,STIM1 chr11 40448188 40448288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 40477852 40477951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 40520212 40520312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 40532848 40533146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC4C chr1 14057107 14057142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM2 chr11 40631220 40631320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 4072500 4116681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RRM1,STIM1 chr11 4072500 4116681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRM1,STIM1 chr11 4072587 4116681 Gain and loss Pancreatic cancer SNP array 17952125 RRM1,STIM1 chr11 40737648 40737731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC4C chr11 40760264 40760364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr1 14076182 14076221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM2 chr11 40787388 40787420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 407930 432011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO9,SIGIRR chr11 407930 432011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO9,SIGIRR chr11 40812713 40830525 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC4C chr11 40821524 41462125 LOH Normal High-resolution SNP genotyping 21211785 LRRC4C chr11 40832801 40867391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC4C chr11 4085062 4133078 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 RRM1,STIM1 chr11 40879098 40879183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 40879434 41039419 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LRRC4C chr1 14089554 14089654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM2 chr1 140895906 153018431 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ACP6,ADAMTSL4,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,ARNT,BCL9,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLG,FLG2,FLJ39739,FMO5,GABPB2,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,ITGA10,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LYSMD1,MCL1,MIR4257,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,OAZ3,OTUD7B,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PI4KB,PIAS3,PIP5K1A,PLEKHO1,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRUNE,PSMB4,PSMD4,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPTN,S100A10,S100A11,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2D,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,TXNIP,VPS45,VPS72,ZNF687 chr1 140903396 141765769 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr1 14092718 14379674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDM2 chr11 40963595 40963916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC4C chr11 4097799 4097899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STIM1 chr1 1409796 1601817 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATAD3A,ATAD3B,C1orf233,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B,SSU72,TMEM240 chr1 1409796 2056500 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATAD3A,ATAD3B,C1orf233,CALML6,CDK11A,CDK11B,GABRD,GNB1,KIAA1751,MIB2,MMP23A,MMP23B,NADK,PRKCZ,SLC35E2,SLC35E2B,SSU72,TMEM240,TMEM52 chr11 40997067 41243191 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRRC4C chr11 410001 428000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO9,SIGIRR chr11 4103612 4103708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STIM1 chr11 41053141 41053262 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC4C chr11 41077222 41290487 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LRRC4C chr11 41101045 41101140 Gain and loss Pancreatic cancer SNP array 17952125 LRRC4C chr11 41101045 41101140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC4C chr1 1411106 1419964 Gain and loss Pancreatic cancer SNP array 17952125 ATAD3B chr11 41118568 41123618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC4C chr11 41214847 42269610 LOH Normal High-resolution SNP genotyping 21211785 LOC100507205,LRRC4C chr11 41251057 41251155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr1 14126051 14126151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM2 chr11 41264714 41264791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC4C chr11 41314650 41314735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 41350354 41350454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr1 141387477 141551836 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 141387477 141979099 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 141387477 141979099 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 141387477 142776854 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 141387477 142882622 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 141395438 141979099 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 141395438 142882622 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 141395438 142972397 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr11 41452014 41452114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr11 41454312 41454412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC4C chr1 141465960 179620513 Gain Retinoblastoma Array-CGH 19183342 ABL2,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf220,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM189B,FAM20B,FAM5B,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NOS1AP,NOTCH2NL,NPHS2,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUCO,SUMO1P3,SV2A,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR3A,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,YY1AP1,ZBTB37,ZBTB7B,ZNF687 chr1 141469947 141550507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 141476958 141489376 Gain Normal TaqMan assays 20972442 NOT_FOUND chr1 141477078 142750886 LOH Normal High-resolution SNP genotyping 21211785 ANKRD20A12P chr1 141477078 143271829 LOH Normal High-resolution SNP genotyping 21211785 ANKRD20A12P chr1 141477078 147747971 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 141477078 147779947 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 141477078 147843073 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 141477078 150823203 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACP6,ADAMTSL4,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,APH1A,ARNT,BCL9,BOLA1,C1orf51,C1orf54,CA14,CD160,CHD1L,CTSK,CTSS,ECM1,ENSA,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HYDIN2,ITGA10,LINC00568,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,MCL1,MIR4257,MIR5087,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,OTUD7B,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,PLEKHO1,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,RBM8A,RNF115,RPRD2,SEC22B,SF3B4,SRGAP2B,SV2A,TARS2,TXNIP,VPS45 chr1 141477078 156897805 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACP6,ADAM15,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,APOA1BP,AQP10,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCAN,BCL9,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CCT3,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,CRABP2,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DAP3,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,ENSA,FAM189B,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,IVL,JTB,KCNN3,KIAA0907,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100130000,LOC100132111,LOC100286793,LOC100505666,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LRRC71,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MIR555,MIR9-1,MIR92B,MLLT11,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NES,NOTCH2NL,NPR1,NTRK1,NUDT17,NUP210L,OAZ3,OTUD7B,PAQR6,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEAR1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRCC,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RBM8A,RFX5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D2A,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TTC24,TUFT1,TXNIP,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 141477250 141485500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 141477438 141478031 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 141478823 141479936 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 141478933 141479510 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 141481675 141483661 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 141485501 141697500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 414933 415208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SIGIRR chr1 141501392 142732360 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD20A12P chr1 141510591 145121245 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ANKRD20A12P,FAM72D,FLJ39739,LINC00623,LOC100130000,LOC100286793,LOC653513,LOC728875,NBPF9,PDE4DIP,PFN1P2,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,SEC22B,SRGAP2B chr1 141510591 145121245 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-283K arrays 21546498 ANKRD20A12P,FAM72D,FLJ39739,LINC00623,LOC100130000,LOC100286793,LOC653513,LOC728875,NBPF9,PDE4DIP,PFN1P2,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,SEC22B,SRGAP2B chr1 141512743 141603006 Gain Normal TaqMan assays 20972442 NOT_FOUND chr11 41530011 41530250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 41530233 41530414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 41534949 41535049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 41542716 44755343 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACCS,ACCSL,ALKBH3,ALX4,API5,C11orf96,CD82,EXT2,HNRNPKP3,HSD17B12,LOC100507205,LOC100507300,MIR129-2,MIR670,SEC14L1P1,TTC17 chr11 41546639 41546716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 141562168 141656128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141562168 141656128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141595048 141595130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141595241 141595322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141596153 141596235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141597537 141597619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141601540 141602272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141629902 141630448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141632236 141632463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141644337 207312482 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AVPR1B,AXDND1,B3GALT2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf116,C1orf129,C1orf186,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMSAP2,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CDC73,CDK18,CELF3,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNTN2,COPA,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DSTYK,DUSP12,DUSP23,DUSP27,DYRK3,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,EIF2D,ELF3,ELK4,ENSA,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM72A,FAM72D,FAM78B,FAM91A2,FASLG,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,IPO9,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KCNT2,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMC1,LAMC2,LAMTOR2,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LEMD1,LEMD1-AS1,LENEP,LGR6,LHX4,LHX9,LINC00260,LINC00272,LINC00303,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LRRC52,LRRC71,LRRN2,LY9,LYSMD1,MAEL,MAPKAPK2,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK7,NES,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM8A,RC3H1,RCSD1,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,SYT2,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687 chr1 141644337 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 141697501 141825000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 141722546 141764746 Gain Normal TaqMan assays 20972442 NOT_FOUND chr1 141731756 141732043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141732106 141732698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141732644 141749172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 141733011 141734079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141741110 141741262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 141745055 141768758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 41770042 41775574 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 41773938 41775665 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr11 41774773 41775598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 41774815 41775603 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 41774842 41774946 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr11 4177792 4272708 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100506082 chr11 4177792 4399615 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100506082,OR52B4 chr11 4177792 4399615 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100506082,OR52B4 chr11 4177792 4466764 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100506082,OR52B4,TRIM21 chr11 4177792 4466764 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100506082,OR52B4,TRIM21 chr11 41778857 41779183 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 41778872 41779198 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 4178855 4178955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 141825001 141898250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 41831626 41831810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 141851837 141979099 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 141851837 142587762 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 141851837 142776854 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 141851837 142882622 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 141851837 142904570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 141851837 142972397 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr11 4186371 4186456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 141888568 141888731 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 141898251 141933750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 14190543 14190612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 4192351 4206588 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 141933751 142026750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 141941032 141941526 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 419474 422036 Gain Normal 244K array 17666407 ANO9 chr11 4195618 4315620 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100506082 chr11 4195619 4284735 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC100506082 chr11 4195630 4293105 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC100506082 chr1 14196035 14196138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142026751 142029000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 4202881 4202989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 142029001 142120000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 142058657 142059118 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4206589 4293105 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100506082 chr11 4206589 4293105 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC100506082 chr1 142068797 142068960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 42079111 42124106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142085332 142086382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142086687 142087113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142087346 142087733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142099558 142132380 Gain Normal TaqMan assays 20972442 NOT_FOUND chr1 142101823 142106166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 4211109 4211678 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506082 chr1 142111393 142111554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142111393 142111555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 42112726 42113054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 142117381 142118939 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 142120001 142125250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 142125251 142276000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 4212693 4263984 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100506082 chr11 4212693 4315620 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100506082 chr11 4212693 4343490 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100506082 chr11 4212693 4346165 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC100506082 chr11 42158153 42720526 LOH Normal High-resolution SNP genotyping 21211785 LOC100507205 chr11 4216251 4216351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506082 chr11 42183725 42207183 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142184367 142184770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142185082 142186132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142189379 142565232 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142189379 142565232 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr11 42191490 44390302 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACCS,ACCSL,ALKBH3,ALX4,API5,C11orf96,EXT2,HNRNPKP3,HSD17B12,LOC100507205,LOC100507300,MIR129-2,MIR670,SEC14L1P1,TTC17 chr11 4219862 4220446 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506082 chr11 4219862 4220446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506082 chr11 42199446 42720526 LOH Normal High-resolution SNP genotyping 21211785 LOC100507205 chr11 42253388 42253483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100507205 chr1 1422568 1427928 Gain and loss Pancreatic cancer SNP array 17952125 ATAD3B chr11 42257915 42258015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100507205 chr1 142276001 142384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 142278850 142278932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142279090 142279172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142279905 142279986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 42291489 42606351 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 142300827 142319345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 42302540 42328583 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 14233010 14783592 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 142364023 142402592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 42372185 42372260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 142384001 142535500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 42388021 42388121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 142391276 142548088 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 142391276 142587762 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 142391276 142680315 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 142391276 142776854 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 142391276 142882622 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 142391276 142904570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 142391276 142972397 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr11 42394053 42394132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 142397633 244850724 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 142400000 148000000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Copy number Neuroblastoma References 21124317 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Copy number Normal - 21701786 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Copy number Schizophrenia from references 18923514 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Copy number Schizophrenia References 22499536 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Addison's disease Genome-wide Human SNP Array 6.0 21851588 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Autism ref 20970697 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Epilepsy ref 20970697 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion or duplication Normal affymetrix 2.7M array 21824431 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Schizophrenia - 20587603 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Schizophrenia - 22118685 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Schizophrenia ref 20970697 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Schizophrenia References 20553308 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Deletion Schizophrenia References 21956041 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Duplication Autism ref 20970697 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Duplication Heart disease Illumina 660W-Quad chips and Affymetrix 6.0 chips 22199024 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Duplication or deletion Mental retardation References 19951919 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Gain Ovarian cancer Affymetrix 20844748 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Microdeletions and microduplications Autism array-based CGH 18784092 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Microdeletions and microduplications Congenital abnormalities array-based CGH 18784092 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Microdeletions and microduplications Mental retardation array-based CGH 18784092 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Microdeletion TAR Syndrome aCGH 17847015 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Microdeletion Thrombocytopenia-absent radius syndrome Array CGH 17236129 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 148000000 Microduplication Schizophrenia References 19855392 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 149600000 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FAM91A2,FCGR1C,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HIST2H2BF,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142400000 158800000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 ACP6,ADAM15,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,APOA1BP,AQP10,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCAN,BCL9,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,CRABP2,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,FAM189B,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,IVL,JTB,KCNN3,KIAA0907,KIRREL,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100130000,LOC100132111,LOC100286793,LOC100505666,LOC388692,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRRC71,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MIR555,MIR765,MIR9-1,MIR92B,MLLT11,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NES,NOTCH2NL,NPR1,NTRK1,NUDT17,NUP210L,OAZ3,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEAR1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRCC,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RBM8A,RFX5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D2A,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TTC24,TUFT1,TXNIP,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 142400000 241700000 Gain Non-small cell lung cancer - 21385341 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,AGT,AIDA,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 142400000 247249719 Gain Acute lymphoblastic leukemia BAC clone 21980252 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 142400000 247249719 Gain Breast cancer Array CGH 16608533 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr11 42401177 42472156 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 142409062 142568859 Loss or gain Normal 244K array 17666407 NOT_FOUND chr11 42418801 42422900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 142420334 142972397 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr11 42420675 42420985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 142433716 142433772 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142433716 142433772 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 142433716 142433860 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142433716 142433860 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 142438537 142438700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142439162 142535935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142439162 142535935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142464653 142464813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142478353 142480409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142478353 142480409 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 142478882 142479043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142487224 245120412 Gain Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 142491439 142501807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142510035 142536110 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 142511227 142513042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4252332 4321275 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 142535501 142991500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD20A12P chr1 142536304 142691538 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 NOT_FOUND chr1 142555943 142559798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142557948 142697860 Duplication Schizophrenia NimbleGen HD2 platform 21346763 ANKRD20A12P chr1 142560553 142593564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142565191 158296814 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 ACP6,ADAM15,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,APOA1BP,AQP10,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCAN,BCL9,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CCT3,CD160,CD1A,CD1C,CD1D,CD5L,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,CRABP2,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,FAM189B,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,IVL,JTB,KCNN3,KIAA0907,KIRREL,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100130000,LOC100132111,LOC100286793,LOC100505666,LOC388692,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRRC71,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MIR555,MIR765,MIR9-1,MIR92B,MLLT11,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NES,NOTCH2NL,NPR1,NTRK1,NUDT17,NUP210L,OAZ3,OTUD7B,PAQR6,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEAR1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRCC,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RBM8A,RFX5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D2A,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TTC24,TUFT1,TXNIP,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 142567425 142589464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142571575 142592054 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142574788 142597340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142575013 142587086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142575854 142882622 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 142575854 142972397 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A12P chr1 142585472 142606033 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142585472 142606033 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 142600000 147000000 Copy number Autism References 19521722 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Copy number Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Copy number Mental retardation References 19521722 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Copy number Neuroblastoma 550K SNP array 19536264 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Copy number Schizophrenia References 19521646 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion Epilepsy ref 20923578 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion Mental retardation array CGH 17124404 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion or duplication Autism Array CGH 19955444 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion or duplication Autism ref 20964600 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion or duplication Schizophrenia Array CGH 19955444 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion Schizophrenia High-density SNP microarrays 19348701 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion Schizophrenia HumanHap300 chip, the HumanHap550 chip, the Affymetrix GeneChip GenomeWide SNP 6.0 18668039 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion Schizophrenia References 19443537 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion Schizophrenia References 19571808 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Deletion Velocardiofacial syndrome References 19329560 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Gain Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 147000000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 ANKRD20A12P,ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FLJ39739,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr1 142600000 150300000 Gain Osteosarcoma Agilent 244K arrays 19286668 ACP6,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,APH1A,BCL9,BOLA1,C1orf51,C1orf54,CA14,CD160,CHD1L,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,MIR5087,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,OTUD7B,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,PLEKHO1,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,RBM8A,RNF115,SEC22B,SF3B4,SRGAP2B,SV2A,TXNIP,VPS45 chr1 142600000 155000000 Amplification Osteosarcoma PCR 17242211 ACP6,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARNT,ATP8B2,BCL9,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HAX1,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,PMVK,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,TXNIP,UBAP2L,UBE2Q1,VPS45,VPS72,ZBTB7B,ZNF687 chr1 142600000 155000000 Amplification Ovarian cancer PCR 17242211 ACP6,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARNT,ATP8B2,BCL9,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HAX1,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,PMVK,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,TXNIP,UBAP2L,UBE2Q1,VPS45,VPS72,ZBTB7B,ZNF687 chr1 142600000 155000000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ACP6,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARNT,ATP8B2,BCL9,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HAX1,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,PMVK,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,TXNIP,UBAP2L,UBE2Q1,VPS45,VPS72,ZBTB7B,ZNF687 chr1 142600000 155000000 Deletion Schizophrenia References 18990708 ACP6,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARNT,ATP8B2,BCL9,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HAX1,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,PMVK,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,TXNIP,UBAP2L,UBE2Q1,VPS45,VPS72,ZBTB7B,ZNF687 chr1 142600000 155000000 Deletion Sudden cardiac death CGH 19188705 ACP6,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARNT,ATP8B2,BCL9,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HAX1,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,PMVK,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,TXNIP,UBAP2L,UBE2Q1,VPS45,VPS72,ZBTB7B,ZNF687 chr1 142600000 155000000 Gain Myeloma FISH and Affymetrix U133plus chip 17024118 ACP6,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARNT,ATP8B2,BCL9,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HAX1,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,PMVK,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,TXNIP,UBAP2L,UBE2Q1,VPS45,VPS72,ZBTB7B,ZNF687 chr1 142600000 155000000 Gain Plasma-cell dyscrasia FISH 16705089 ACP6,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARNT,ATP8B2,BCL9,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HAX1,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,PMVK,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,TXNIP,UBAP2L,UBE2Q1,VPS45,VPS72,ZBTB7B,ZNF687 chr1 142600000 155000000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACP6,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARNT,ATP8B2,BCL9,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HAX1,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,PMVK,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,TXNIP,UBAP2L,UBE2Q1,VPS45,VPS72,ZBTB7B,ZNF687 chr1 142600000 156500000 Gain and amplification Multiple myeloma Array CGH 16616336 ACP6,ADAM15,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCL9,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CCT3,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DAP3,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,ENSA,FAM189B,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPR89A,GPR89B,GPR89C,HAX1,HCN3,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,IQGAP3,ITGA10,IVL,JTB,KCNN3,KIAA0907,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100130000,LOC100132111,LOC100286793,LOC100505666,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MIR555,MIR9-1,MIR92B,MLLT11,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PAQR6,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RBM8A,RFX5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPRD2,RPS27,RPTN,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TUFT1,TXNIP,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 142600000 156500000 Gain Cancer Array CGH 17060936 ACP6,ADAM15,ADAMTSL4,ADAR,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCL9,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CCT3,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DAP3,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,ENSA,FAM189B,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPR89A,GPR89B,GPR89C,HAX1,HCN3,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,IQGAP3,ITGA10,IVL,JTB,KCNN3,KIAA0907,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100130000,LOC100132111,LOC100286793,LOC100505666,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MIR555,MIR9-1,MIR92B,MLLT11,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PAQR6,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RBM8A,RFX5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPRD2,RPS27,RPTN,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TUFT1,TXNIP,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 142600000 165500000 Amplification Hepatocellular carcinoma Array CGH 16750200 ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,AIM2,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,ATP8B2,B4GALT3,BCAN,BCL9,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DPM3,DUSP12,DUSP23,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,FAM189B,FAM63A,FAM72D,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC388692,LOC400794,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRRC71,LY9,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MLLT11,MNDA,MPZ,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NOTCH2NL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RBM8A,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUMO1P3,SV2A,SYT11,TAGLN2,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VPS45,VPS72,VSIG8,YY1AP1,ZBTB7B,ZNF687 chr1 142600000 165500000 Copy number Type 2 diabetes real-time PCR 19141583 ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,AIM2,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,ATP8B2,B4GALT3,BCAN,BCL9,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DPM3,DUSP12,DUSP23,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,FAM189B,FAM63A,FAM72D,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC388692,LOC400794,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRRC71,LY9,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MLLT11,MNDA,MPZ,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NOTCH2NL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RBM8A,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUMO1P3,SV2A,SYT11,TAGLN2,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VPS45,VPS72,VSIG8,YY1AP1,ZBTB7B,ZNF687 chr1 142600000 180300000 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf220,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NOS1AP,NOTCH2NL,NPHS2,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUCO,SUMO1P3,SV2A,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,YY1AP1,ZBTB37,ZBTB7B,ZNF687 chr1 142600000 207200000 Gain Hepatocellular carcinoma Array CGH 18803288 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AVPR1B,AXDND1,B3GALT2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf116,C1orf129,C1orf186,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf98,C2CD4D,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMSAP2,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CDC73,CDK18,CELF3,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNTN2,COPA,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DSTYK,DUSP12,DUSP23,DUSP27,DYRK3,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,EIF2D,ELF3,ELK4,ENSA,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM72A,FAM72D,FAM78B,FAM91A2,FASLG,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,IPO9,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KCNT2,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMC1,LAMC2,LAMTOR2,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LEMD1,LEMD1-AS1,LENEP,LGR6,LHX4,LHX9,LINC00260,LINC00272,LINC00303,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LRRC52,LRRC71,LRRN2,LY9,LYSMD1,MAEL,MAPKAPK2,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK7,NES,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM8A,RC3H1,RCSD1,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,SYT2,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687 chr1 142600000 249250621 Amplification Breast cancer BAC-arrays 17001317 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 142600000 249250621 Gain Basal cell lymphoma Array CGH 16317097 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 142600000 249250621 Gain Diffuse large b-cell lymphoma Array CGH 16317097 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF687,ZNF692,ZNF695,ZNF847P,ZP4 chr1 142606540 142701254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD20A12P chr1 1426107 1426399 Gain and loss Pancreatic cancer SNP array 17952125 ATAD3B chr1 142612557 142700497 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANKRD20A12P chr1 142612679 142707448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD20A12P chr1 142612794 142705036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD20A12P chr1 142617240 142827139 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ANKRD20A12P chr1 142625689 142626072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 142627547 142805834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A12P chr1 142627547 142805834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A12P chr1 142628069 142628613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142628069 142628613 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 142638784 142638882 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142638784 142638882 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 142640872 142772777 Copy number Normal Quantitative Real-Time PCR 17666543 ANKRD20A12P chr11 4265305 4265880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142654790 142686153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 42663827 42663929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 142693888 143049286 Gain Normal Birdsuite, version 1.5.2 22087296 ANKRD20A12P chr1 142693888 143978071 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 ANKRD20A12P,FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr1 142694585 245120412 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 142698158 142779531 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD20A12P chr1 142704587 142829006 Amplification or deletion Cancer Array CGH 17440070 ANKRD20A12P chr1 142717739 142734566 Duplication Normal TaqMan assays 20972442 NOT_FOUND chr1 142721264 187457065 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLA2G4A,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNU6-72,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 142725260 142805781 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 142735883 143049274 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 142735883 144001649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr1 142748094 143608385 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 142748094 143669172 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 142749719 142793339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142756545 144001649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr1 142758415 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 142765917 142794643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142766294 142766545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 42766367 42782795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 42768782 42775951 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 42769727 42774615 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 142771445 142831102 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142783139 142845919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 427838 428030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO9 chr11 428001 429500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO9 chr1 142800822 142850289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142803849 143666594 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr1 142806312 142841534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142807246 142881712 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142814140 142846010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142819318 142865121 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142820056 142904570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 142820056 142972397 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 42827503 42827603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 42829472 42829588 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 142829765 142858548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 42837864 42837964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 142838764 142868842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142842785 142859862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 42853873 42853973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 142858167 142932413 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 142858167 142932413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 42865148 42865248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 142870000 177000000 Gain Burkitt's lymphoma 244 K aCGH platform 19759907 ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM189B,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR4257,MIR4258,MIR4654,MIR488,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NOS1AP,NOTCH2NL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRDX6,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RABGAP1L,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUCO,SUMO1P3,SV2A,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,YY1AP1,ZBTB37,ZBTB7B,ZNF687 chr1 142871719 142905835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142871801 142871962 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142871801 142871964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142883026 145311463 Amplification Breast cancer FISH 17142309 FAM72D,FLJ39739,LINC00623,LOC100130000,LOC100286793,LOC653513,LOC728875,NBPF10,NBPF9,NOTCH2NL,PDE4DIP,PFN1P2,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,SEC22B,SRGAP2B chr1 142887655 142919590 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 142902322 142906589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142902432 245422360 Duplication Acute myeloid leukemia - 21251322 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 142902432 245422432 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 142916565 153594838 Gain Prostate cancer Array CGH 18632612 ACP6,ADAMTSL4,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,ARNT,BCL9,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLG,FLG2,FLJ39739,FMO5,GABPB2,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,ITGA10,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR4257,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,OAZ3,OTUD7B,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPTN,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,TXNIP,VPS45,VPS72,ZNF687 chr1 142916565 240032059 Gain Prostate cancer Array CGH 18632612 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,AGT,AIDA,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr11 42926159 42927744 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 142927626 142931565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142930664 156376000 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ACP6,ADAM15,ADAMTSL4,ADAR,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,AQP10,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCL9,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CCT3,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DAP3,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,ENSA,FAM189B,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPR89A,GPR89B,GPR89C,HAX1,HCN3,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,IL6R,ILF2,INTS3,ITGA10,IVL,JTB,KCNN3,KIAA0907,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100130000,LOC100132111,LOC100286793,LOC100505666,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MIR555,MIR92B,MLLT11,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NPR1,NUDT17,NUP210L,OAZ3,OTUD7B,PAQR6,PBXIP1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RBM8A,RFX5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPRD2,RPS27,RPTN,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TUFT1,TXNIP,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr11 4293105 4309557 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 42936291 42936668 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 142945681 142959432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 429501 518000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO9,PTDSS2,RNH1 chr1 142959552 142964691 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142960766 142963009 Gain Normal 244K array 17666407 NOT_FOUND chr1 142966203 142990713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142991501 143235000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 14299548 14299628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 142996662 143029489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 142996684 143000563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 142998279 143004741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143003839 143011838 Loss Normal TaqMan assays 20972442 NOT_FOUND chr1 143005427 143012775 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43008622 43042829 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 143012474 143113897 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 143014034 143032906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143022570 143022733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143038288 143057565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 430406 430693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO9 chr11 43046970 43047070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 430473 430692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO9 chr1 143049286 143560909 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 143050261 143051508 Gain Normal 244K array 17666407 NOT_FOUND chr1 143065033 143075590 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143072096 143075949 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 43072587 43104052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 143075034 143075528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143075543 143078471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4307671 4308255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4307671 4308255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143081650 143099930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 14308680 14311417 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 14308680 14311417 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 14308895 14310821 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 14308938 14309243 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 14308955 14311484 Deletion Normal - 21790672 NOT_FOUND chr11 43091864 43092014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 43095467 43095567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 4309557 4315864 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 14309658 14311525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 43096817 49992129 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,API5,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,HNRNPKP3,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LOC440040,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,ZNF408 chr1 143100080 143177770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143115310 143293752 Loss Normal 244K array 17666407 NOT_FOUND chr1 143117214 143257561 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 143123393 143123614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43130163 43148799 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr1 143140453 244850724 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr11 43153947 48347331 Substitutions and indels small cell lung cancer array-CGH 20016488 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,API5,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HNRNPKP3,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4B1,OR4C3,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 4316466 4317035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143184977 143195886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43191151 43191346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 43191373 43191551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 143202799 143202962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143216768 143253111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43220000 44740000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ACCS,ACCSL,ALKBH3,ALX4,API5,C11orf96,CD82,EXT2,HNRNPKP3,HSD17B12,LOC100507300,MIR129-2,MIR670,SEC14L1P1,TTC17 chr1 143222462 153482569 Amplification Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ACP6,ADAMTSL4,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,ARNT,BCL9,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLG,FLG2,FLJ39739,FMO5,GABPB2,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,ITGA10,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR4257,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,OAZ3,OTUD7B,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPTN,S100A10,S100A11,S100A12,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,TXNIP,VPS45,VPS72,ZNF687 chr1 143222462 153482569 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ACP6,ADAMTSL4,ANKRD34A,ANKRD35,ANP32E,ANXA9,APH1A,ARNT,BCL9,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CD160,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM72D,FAM91A2,FCGR1A,FCGR1C,FLG,FLG2,FLJ39739,FMO5,GABPB2,GJA5,GJA8,GNRHR2,GOLPH3L,GPR89A,GPR89B,GPR89C,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HYDIN2,ITGA10,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LOC100130000,LOC100132111,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,LOR,LYSMD1,MCL1,MIR4257,MIR5087,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,OAZ3,OTUD7B,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIP5K1A,PLEKHO1,POGZ,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,RBM8A,RFX5,RIIAD1,RNF115,RORC,RPRD2,RPTN,S100A10,S100A11,S100A12,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SEC22B,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRGAP2B,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,TXNIP,VPS45,VPS72,ZNF687 chr1 143231907 143259577 Gain Normal TaqMan assays 20972442 NOT_FOUND chr1 14323316 14323419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143235001 143267250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 143245395 143245556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143253640 143301048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43262027 43271821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 43290109 43322655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPKP3 chr11 43290109 43322655 Gain and loss Pancreatic cancer SNP array 17952125 HNRNPKP3 chr11 43290109 43322655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPKP3 chr1 143305177 143306991 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 43309387 43309478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43309387 43309478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143323477 143323656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143323661 143323861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143326471 143541658 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 143326471 143541658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 43337067 43472069 Gain and loss Pancreatic cancer SNP array 17952125 API5,TTC17 chr11 43337067 43472069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 API5,TTC17 chr1 143352668 143696587 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100130000 chr1 143352668 143778734 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143352668 143922358 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr1 143366851 143393412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143387794 143391329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143388227 143391329 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 143388229 143787436 Gain or loss Breast cancer - 20668451 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143388229 143787436 Gain or loss Cancer - 20668451 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143388229 143787436 Gain or loss Lung cancer - 20668451 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143388229 143787436 Gain or loss Ovarian cancer - 20668451 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143388229 143787436 Gain or loss Pancreas cancer - 20668451 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143388229 143787436 Gain or loss Prostate cancer - 20668451 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr11 43389167 43389267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC17 chr11 43400000 48800000 Amplification Esophageal squamous carcinoma CGH 21637470 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 48800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 48800000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 48800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 48800000 Gain Intracranial ependymoma matrix-based CGH 16609018 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 48800000 Loss Myxofibrosarcoma Array CGH 16751306 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 48800000 Loss Non-small cell lung cancer - 21385341 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 48800000 Microdeletion Potocki-Shaffer syndrome aCGH 22470819 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 48800000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43400000 51400000 Loss Breast cancer Array CGH 16608533 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,ZNF408 chr11 43400000 52900000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,ZNF408 chr11 43400000 52900000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,ZNF408 chr11 43400000 52900000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,ZNF408 chr11 43400000 52900000 Gain Colorectal cancer Copy Number Analyzer for Affymertix GeneChip Mapping arrays v2.0,Affymetrix Genotyping Console v2.1 21128281 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,ZNF408 chr11 43400000 52900000 Gain Follicular lymphoma aCGH 20505157 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4C46,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,TTC17,ZNF408 chr1 143411128 143411198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143414490 143414650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143414532 143414642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 14341488 14762438 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr1 143420545 143420615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43430795 43464494 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC17 chr1 143434327 143434426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143434337 143434426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143438819 143438982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43444518 43444971 Gain and loss Pancreatic cancer SNP array 17952125 TTC17 chr11 4345157 4346101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4345157 4346101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4345157 4346101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 43477770 43477866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC17 chr1 143480000 149410000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 ACP6,ANKRD34A,ANKRD35,BCL9,CD160,CHD1L,FAM72D,FCGR1C,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,HIST2H2BF,HYDIN2,ITGA10,LINC00623,LINC00624,LIX1L,LOC100130000,LOC100286793,LOC388692,LOC645166,LOC653513,LOC728875,LOC728989,MIR5087,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr11 43500000 48800000 Gain and amplification Multiple myeloma Array CGH 16616336 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43500000 48800000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43500000 48800000 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43500000 48800000 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43500000 48800000 Loss Mantle cell lymphoma Array CGH 19029149 ACCS,ACCSL,ACP2,AGBL2,ALKBH3,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C11orf96,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,HSD17B12,KBTBD4,LOC100507300,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR129-2,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MIR670,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SEC14L1P1,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,TTC17,ZNF408 chr11 43500102 43501393 Gain and loss Pancreatic cancer SNP array 17952125 TTC17 chr11 43500102 43501393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC17 chr1 143502197 143552314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143510000 170920000 Gain Breast cancer aCGH 21509527 ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANKRD34A,ANKRD35,ANKRD36BP1,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM189B,FAM63A,FAM72D,FAM78B,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,FMO9P,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIFAP3,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL18,MEX3A,MGST3,MIR190B,MIR3119-1,MIR3119-2,MIR3658,MIR4257,MIR4258,MIR4654,MIR5087,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NOS1AP,NOTCH2NL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRKAB2,PRPF3,PRR9,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RBM8A,RCSD1,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SCYL3,SDHC,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUMO1P3,SV2A,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,YY1AP1,ZBTB7B,ZNF687 chr11 43517565 43517655 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 143523101 143541658 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 143523101 143541658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143526765 143543580 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr1 143526791 143581082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 43537782 43537879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143543612 143698342 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100130000 chr1 143543612 144001649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr1 143555501 143618500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 43559519 43559612 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43559520 43559609 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43559520 43559609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4356088 4357033 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4356088 4357033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143560896 143560909 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 143560896 143579717 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 143560991 143561154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143561033 143561154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43561682 43561782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 143562207 143562276 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143562784 143787552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143562784 143787552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143562784 143787552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143570846 144923027 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 FAM72D,FLJ39739,LINC00623,LOC100130000,LOC100286793,LOC653513,LOC728875,NBPF9,PDE4DIP,PFN1P2,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,SRGAP2B chr1 143576984 143613580 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 143593707 143593795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143593707 143593814 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43602626 43602689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 143605446 143606443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 143607437 143615980 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 143612538 143618166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 43617201 45767700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACCS,ACCSL,ALKBH3,ALX4,C11orf96,CD82,CHST1,EXT2,HSD17B12,LOC100507300,LOC100507384,LOC221122,PRDM11,SEC14L1P1,SYT13,TP53I11,TSPAN18 chr1 143618501 143642500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 4362703 4371492 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4362734 4371502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4362734 4371502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 43627487 43627577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 143642501 143644000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 143644001 143694250 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100130000 chr1 143646834 143884768 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143650000 145000000 Loss Autism Array CGH 18522746 FAM72D,FLJ39739,LINC00623,LOC100130000,LOC100286793,LOC653513,LOC728875,NBPF9,PDE4DIP,PFN1P2,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,SRGAP2B chr1 143650236 143702635 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100130000 chr1 143650236 143716100 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100130000 chr1 143650236 144001649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr1 143650236 144147288 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr1 143656029 143656218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143656390 144127941 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM72D,FLJ39739,LOC100130000,LOC100286793,PPIAL4G,SRGAP2B chr11 43658719 43834736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSD17B12 chr11 43658719 43834736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD17B12 chr11 43658835 43834736 Gain and loss Pancreatic cancer SNP array 17952125 HSD17B12 chr1 143660533 143789398 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143663117 143787436 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143665704 143791860 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143665704 143791860 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143665971 143666718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 43683794 43718337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSD17B12 chr1 143684312 143690936 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130000 chr1 143686884 143805713 Gain Normal TaqMan assays 20972442 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr1 143688732 143695684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100130000 chr1 143688799 143703744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100130000 chr1 143694251 143805000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ39739,LOC100130000,LOC100286793,PPIAL4G chr11 43696165 79188879 Gain Glioblastoma multiforme 244K oligo array 21138945 ACCS,ACCSL,ACER3,ACP2,ACTN3,ACY3,ADRBK1,AGBL2,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALKBH3,ALX4,AMBRA1,ANAPC15,ANKRD13D,ANO1,AP5B1,APLNR,AQP11,ARAP1,ARFGAP2,ARHGAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG13,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf49,C11orf67,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf94,C11orf95,C11orf96,C1QTNF4,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CELF1,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CHRM4,CHST1,CKAP5,CLCF1,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CRY2,CST6,CTNND1,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DDB2,DEFB108B,DGAT2,DGKZ,DHCR7,DKFZP434K028,DKFZp779M0652,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM180B,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FNBP4,FOLH1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,GYLTL1B,HARBI1,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSD17B12,IGHMBP2,IL18BP,INCENP,INPPL1,INTS4,INTS5,KAT5,KBTBD4,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100507300,LOC100507384,LOC100996455,LOC221122,LOC254100,LOC283194,LOC283214,LOC440040,LOC441601,LOC646813,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MADD,MALAT1,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MDK,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4688,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5582,MIR611,MIR612,MIR708,MOGAT2,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTCH2,MTL5,MUS81,MYBPC3,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS3,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NR1H3,NRXN2,NUDT22,NUDT8,NUMA1,NUP160,NXF1,ODZ4,OMP,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAK1,PATL1,PC,PCNXL3,PDE2A,PELI3,PEX16,PGA3,PGA4,PGA5,PGM2L1,PHF21A,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDM11,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PSMC3,PTGDR2,PTPMT1,PTPRCAP,PTPRJ,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RAPSN,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SEC14L1P1,SERPING1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SMTNL1,SNHG1,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD67,SNX15,SNX32,SPCS2,SPDYC,SPI1,SPTBN2,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT13,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,THRSP,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TP53I11,TPBGL,TPCN2,TRIM48,TRIM49B,TRIM51,TRIM51GP,TRIM51HP,TRIM64C,TRMT112,TRPT1,TSGA10IP,TSKU,TSPAN18,TTC9C,TUT1,UBE2L6,UBXN1,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF408,ZNHIT2,ZP1 chr1 143699872 161705044 Gain Bladder cancer array-CGH 21909424 ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,AIM2,ANKRD34A,ANKRD35,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP1A2,ATP1A4,ATP8B2,B4GALT3,BCAN,BCL9,BGLAP,BNIPL,BOLA1,C1orf189,C1orf192,C1orf204,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CDC42SE1,CELF3,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DEDD,DENND4B,DPM3,DUSP23,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,FAM189B,FAM63A,FAM72D,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ39739,FMO5,GABPB2,GATAD2B,GBA,GBAP1,GJA5,GJA8,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSPA6,HSPA7,HYDIN2,IFI16,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LOC100130000,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC388692,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOR,LRRC71,LY9,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR5187,MIR554,MIR555,MIR765,MIR9-1,MIR92B,MLLT11,MNDA,MPZ,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOTCH2NL,NPR1,NR1I3,NTRK1,NUDT17,NUP210L,OAZ3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBXIP1,PCP4L1,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POLR3C,POLR3GL,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPOX,PRCC,PRKAB2,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RBM8A,RFX5,RHBG,RIIAD1,RIT1,RNF115,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SEC22B,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,SUMO1P3,SV2A,SYT11,TAGLN2,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,TXNIP,UBAP2L,UBE2Q1,UBQLN4,UFC1,USF1,USP21,VANGL2,VHLL,VPS45,VPS72,VSIG8,YY1AP1,ZBTB7B,ZNF687 chr1 143700001 144900000 Amplification Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 FAM72D,FLJ39739,LINC00623,LOC100130000,LOC100286793,LOC653513,LOC728875,NBPF9,PDE4DIP,PFN1P2,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,SRGAP2B chr1 143700072 143706634 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 LOC100130000 chr1 143700666 143702722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100130000 chr11 43711879 43712684 Gain and loss Pancreatic cancer SNP array 17952125 HSD17B12 chr1 14371503 14371653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 143716153 143718941 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLJ39739,LOC100286793 chr1 143738087 143738409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FLJ39739,LOC100286793 chr1 1437394 1459928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD3A chr1 1437394 1459928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD3A chr11 43742454 43776532 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSD17B12 chr1 143774994 143775065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143776114 143776242 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143776114 143776277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143780980 143781119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143780982 143781119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143791515 143900815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM72D chr1 143804304 143808438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 143804306 143808439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 143805001 143808000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 143805714 143836732 Gain Normal TaqMan assays 20972442 NOT_FOUND chr1 143806189 143810010 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143807192 143809598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 143807904 143827246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143808001 143830500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 143830501 144014000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM72D,SRGAP2B chr1 143836167 143894746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 143840501 144001649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM72D,SRGAP2B chr11 43846401 43850700 Deletion Glioma mate-paired sequence 20126413 HSD17B12 chr11 43848406 43848741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HSD17B12 chr1 143850382 143850926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 143851506 143868945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 143856437 146851948 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ANKRD34A,ANKRD35,CD160,CHD1L,FAM72D,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LINC00623,LIX1L,LOC653513,LOC728875,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PRKAB2,RBM8A,RNF115,SEC22B,SRGAP2B,TXNIP chr11 43858971 43898389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSD17B12 chr11 43858971 43898389 Gain and loss Pancreatic cancer SNP array 17952125 HSD17B12 chr11 43858971 43898389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD17B12 chr1 143861097 143861197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 43866170 43866475 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HSD17B12 chr11 4387439 5705413 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf40,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,MMP26,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B4,OR52B6,OR52D1,OR52E2,OR52H1,OR52I1,OR52I2,OR52J3,OR52K1,OR52K2,OR52M1,OR52R1,TRIM21,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM68,UBQLN3,UBQLNL chr1 143874434 143876022 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 43875558 43877688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD17B12 chr11 43875582 43877688 Gain and loss Pancreatic cancer SNP array 17952125 HSD17B12 chr11 43877530 43877639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSD17B12 chr1 143882654 143921738 Gain and loss Pancreatic cancer SNP array 17952125 FAM72D,SRGAP2B chr1 143884330 144001649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM72D,SRGAP2B chr1 143887291 186518785 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM72D,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440700,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PRCC,PRDX6,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNU6-72,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 143887291 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 143899256 144016942 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 FAM72D,SRGAP2B chr1 143912138 143913495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM72D chr1 143916898 204661633 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AXDND1,B3GALT2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf98,C2CD4D,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMSAP2,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CDC73,CELF3,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ELF3,ENSA,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IPO9,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KCNT2,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMC1,LAMC2,LAMTOR2,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LGR6,LHX4,LHX9,LINC00260,LINC00272,LINC00303,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148709,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LRRC52,LRRC71,LRRN2,LY9,LYSMD1,MAEL,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR181A1,MIR181B1,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK7,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNPEP,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2B,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,SYT2,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCO1,TMEM183A,TMEM183B,TMEM79,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687 chr1 143916898 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 143920462 144003011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRGAP2B chr1 143920462 144003011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGAP2B chr1 143920465 144003011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRGAP2B chr1 143920467 143997269 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 SRGAP2B chr11 43920716 43922008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALKBH3,SEC14L1P1 chr11 43920716 43922008 Gain and loss Pancreatic cancer SNP array 17952125 ALKBH3,SEC14L1P1 chr11 43920716 43922008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALKBH3,SEC14L1P1 chr1 143939150 143992257 Gain and loss Pancreatic cancer SNP array 17952125 SRGAP2B chr1 143947894 145306864 LOH Normal High-resolution SNP genotyping 21211785 LINC00623,LOC653513,LOC728875,NBPF10,NBPF9,NOTCH2NL,PDE4DIP,PFN1P2,PPIAL4A,PPIAL4B,PPIAL4C,SEC22B,SRGAP2B chr1 143961000 247125000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRGAP2B,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr11 43963232 43988590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf96 chr1 143967114 143967345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SRGAP2B chr11 43973991 44019293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 143988607 143988858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGAP2B chr1 143994699 144008447 Gain Normal TaqMan assays 20972442 SRGAP2B chr1 143998890 144001649 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SRGAP2B chr1 144001129 144081660 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRGAP2B chr1 144001129 144081660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRGAP2B chr1 144001129 144081660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGAP2B chr1 144003200 144003312 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SRGAP2B chr1 144004727 144080039 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 SRGAP2B chr1 144005335 145362730 LOH Normal High-resolution SNP genotyping 21211785 LINC00623,LOC653513,LOC728875,NBPF10,NBPF9,NOTCH2NL,PDE4DIP,PFN1P2,PPIAL4A,PPIAL4B,PPIAL4C,SEC22B,SRGAP2B chr1 144015642 144016745 Gain and loss Pancreatic cancer SNP array 17952125 SRGAP2B chr11 44026107 44038103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 44026107 44038103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 440280 481386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO9,PTDSS2 chr11 440280 481386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO9,PTDSS2 chr11 44044394 44062145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 44044586 44062332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 44044586 44062332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144070569 144073468 Loss Normal 244K array 17666407 SRGAP2B chr11 44073675 44223555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACCS,ACCSL,EXT2 chr11 44073675 44223555 Gain and loss Pancreatic cancer SNP array 17952125 ACCS,ACCSL,EXT2 chr11 44073675 44223555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACCS,ACCSL,EXT2 chr11 4409093 4409653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM21 chr11 4409136 4410035 Gain and loss Pancreatic cancer SNP array 17952125 TRIM21 chr1 144093481 144503421 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C,SRGAP2B chr11 44093545 44231283 Amplification or deletion Cancer Array CGH 17440070 ACCS,EXT2 chr1 144094114 144094277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGAP2B chr11 44098955 48247226 Gain Prostate cancer Array CGH 18632612 ACCS,ACP2,AGBL2,ALX4,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,EXT2,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,KBTBD4,LOC100507384,LOC221122,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4B1,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TSPAN18,ZNF408 chr1 1 44100000 Loss Breast cancer Microarray-based CGH 17133270 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATPIF1,AUNIP,AURKAIP1,B3GALT6,BAI2,BMP8A,BMP8B,BSDC1,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC23,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DNAJC11,DNAJC16,DNAJC8,DNALI1,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KHDRBS1,KIAA0319L,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MMEL1,MMP23A,MMP23B,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PNRC2,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PSMB2,PTAFR,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TEKT2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20 chr1 144101459 144503395 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144106312 144106312 Copy number Heart disease Illumina 660W-Quad chips and Affymetrix 6.0 chips 22199024 NOT_FOUND chr1 144106312 146292286 Deletion Schizophrenia PennCNV software 19197363 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LINC00623,LIX1L,LOC653513,LOC728875,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,RBM8A,RNF115,SEC22B,TXNIP chr1 144106312 146293282 Deletion Schizophrenia PennCNV software 19197363 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LINC00623,LIX1L,LOC653513,LOC728875,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,RBM8A,RNF115,SEC22B,TXNIP chr1 144106777 144451305 Deletion Dyslexia Array CGH 22102821 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144116744 144116843 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 144124628 144128902 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144124628 144128902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144124628 144128902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144124744 144396898 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr11 44132133 44132233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXT2 chr1 144149818 144153985 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 NOT_FOUND chr1 144149939 144153882 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144149939 144153882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144149939 144153882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 14415179 14415279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 144167593 144181744 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144167593 144181744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144167593 144181744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 44176244 44197768 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 EXT2 chr1 144181865 144187004 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144181865 144187004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144181865 144187004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144188441 144210448 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr1 144188516 144213026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144188516 144213026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144188516 144213026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144190576 144439040 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144218966 144224881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144218990 144222801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144218990 144222801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144218994 144222801 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 144218994 144222801 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 144218994 144222801 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr1 144221109 144227433 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144221109 144227433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144224941 245407169 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 144225552 144227256 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 144225552 144227256 Gain or loss Cancer - 20668451 NOT_FOUND chr1 144225552 144227256 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 144225552 144227256 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 144225552 144227256 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 144225552 144227256 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 144227739 144235088 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 144227739 144235088 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr1 144227740 144235088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144227740 144235088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144227740 144235088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 44236001 44298500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALX4,EXT2 chr1 144236346 144255225 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr1 144236347 144255224 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144236347 144255224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144236347 144255224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144237998 144322828 Gain and loss Pancreatic cancer SNP array 17952125 LINC00623,LOC728875 chr11 44238570 44288195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALX4,EXT2 chr11 44238570 44288195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALX4,EXT2 chr11 44238570 44288317 Gain and loss Pancreatic cancer SNP array 17952125 ALX4,EXT2 chr11 4424448 4424533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144250173 193504146 Gain Medulloblastoma Array CGH 18056178 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B3GALT2,B4GALT3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CDC73,CELF3,CENPL,CEP350,CERS2,CGN,CHD1L,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM5C,FAM63A,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR89A,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HFE2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMCN1,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,HYDIN2,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00568,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMX1A,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC388692,LOC400794,LOC440700,LOC440704,LOC645166,LOC646268,LOC653513,LOC728875,LOC728989,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MCL1,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1278,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4257,MIR4258,MIR4424,MIR4654,MIR488,MIR5087,MIR5187,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGLYRP3,PGLYRP4,PI4KB,PIAS3,PIGC,PIGM,PIP5K1A,PKLR,PLA2G4A,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PRCC,PRDX6,PRG4,PRKAB2,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RBM8A,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF115,RNF2,RNU6-72,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,TADA1,TAGLN2,TARS2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 144255274 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 144260565 144279883 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr1 144260573 144279883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144260573 144279883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144260601 144279878 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144262872 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr11 442664 667565 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C11orf35,CDHR5,DEAF1,DRD4,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,PTDSS2,RASSF7,RNH1,SCT chr11 4427146 4428090 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4427146 4452507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4427146 4452507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 44280152 44280252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 144281984 247249719 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCB10,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJA5,GJA8,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR89A,GPR89B,GPR89C,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HFE2,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr11 44283722 44302311 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ALX4 chr11 44284349 44284449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALX4 chr1 144287344 144297903 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 144287344 144297903 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 144287344 144297903 Gain or loss Cancer - 20668451 NOT_FOUND chr1 144287344 144297903 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 144287344 144297903 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 144287344 144297903 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 144287344 144297903 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 144287344 144297903 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr1 144287345 144297903 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144287345 144297903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144287345 144297903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144297502 144300792 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00623,LOC728875 chr1 144297502 144300792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00623,LOC728875 chr1 144297502 144300792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00623,LOC728875 chr1 144297849 144300792 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 LINC00623,LOC728875 chr11 44298501 44540000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALX4 chr1 144303961 144322241 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 LINC00623,LOC728875 chr1 144303963 144322294 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00623,LOC728875 chr1 144303963 144322294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00623,LOC728875 chr1 144303963 144322294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00623,LOC728875 chr1 144322392 144400084 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144322393 144400083 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144322393 144400083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144322393 144400083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144332189 144332788 Gain Normal 244K array 17666407 LINC00623,LOC728875 chr1 144337051 144469229 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144337063 144352621 Loss Normal Birdsuite, version 1.5.2 22087296 LINC00623,LOC728875 chr1 144337336 144456849 Gain Autism - 20841430 LINC00623,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144341723 144503409 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC728875,PPIAL4A,PPIAL4B,PPIAL4C chr1 144343984 144367430 Gain and loss Pancreatic cancer SNP array 17952125 PPIAL4A,PPIAL4B,PPIAL4C chr1 144352621 144439040 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PPIAL4A,PPIAL4B,PPIAL4C chr1 14436079 14436300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 44363376 44363432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 44379066 44740265 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CD82 chr1 144386200 144386472 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 44390302 50843958 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C1QTNF4,CD82,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,KBTBD4,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PRDM11,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC35C1,SLC39A13,SNORD67,SPI1,SYT13,TP53I11,TRIM49B,TRIM51GP,TRIM64C,TSPAN18,ZNF408 chr1 144407154 144426922 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr1 144407155 144426971 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144407155 144426971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144407155 144426971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144439040 144724627 Loss Normal Birdsuite, version 1.5.2 22087296 LOC653513,LOC728875,NBPF9,PFN1P2 chr1 144453709 144470258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 144454620 144475431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 144454620 144475431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144454620 144475431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144475774 144538430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728875 chr1 144475951 145932379 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,LOC653513,LOC728875,NBPF10,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144475952 144538422 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC728875 chr11 44476300 44510219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 144516731 146256137 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,LOC653513,LOC728875,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144516731 146256137 Microdeletions Schizophrenia high-density single nucleotide polymorphism arrays 19843651 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,LOC653513,LOC728875,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PFN1P2,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144520258 144605089 Amplification or deletion Cancer Array CGH 17440070 LOC728875 chr11 4453046 4453699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 144537954 144539246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 44540001 44614000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD82 chr11 44543717 44597889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD82 chr11 44543717 44597889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD82 chr1 14454425 14458147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4455072 4978121 LOH Normal High-resolution SNP genotyping 21211785 C11orf40,OR51A2,OR51A4,OR51A7,OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51S1,OR51T1,OR52I1,OR52I2,OR52K1,OR52K2,OR52M1,OR52R1,TRIM68 chr11 44553004 44553091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 44553274 44553374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 44572767 44597889 Gain and loss Pancreatic cancer SNP array 17952125 CD82 chr11 44578465 44578565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 44588488 44588520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD82 chr1 144594051 144594091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 14459433 14459952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 144595233 144635406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF9,PFN1P2 chr1 144595233 144635406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9,PFN1P2 chr1 144595234 144635220 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF9,PFN1P2 chr1 144599752 144606200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 144625338 144690573 Gain and loss Pancreatic cancer SNP array 17952125 LOC653513,NBPF9 chr1 144635745 144653976 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF9 chr1 144635745 144653976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144652936 144653006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144656295 144656461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144662353 144662423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr11 4466707 4467651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4466707 4467651 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4466707 4467651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 44680447 44698752 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 144680627 144680790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144690910 144709147 Gain and loss Pancreatic cancer SNP array 17952125 NBPF9 chr11 44703756 44703850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 144711510 144711620 Gain and loss Pancreatic cancer SNP array 17952125 NBPF9 chr11 44721629 44721693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 144722448 144736665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144731328 144731427 Gain and loss Pancreatic cancer SNP array 17952125 NBPF9 chr1 144735820 144735983 Gain and loss Pancreatic cancer SNP array 17952125 NBPF9 chr1 144741655 144772214 Gain Normal aCGH 21627829 NBPF9 chr1 144743900 144779602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF9 chr1 144743900 144779602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144746391 144750437 Gain Normal aCGH 21627829 NBPF9 chr11 44762514 44762614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 144771283 144771701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144784991 145366889 Copy number Normal Quantitative Real-Time PCR 17666543 NBPF10,NBPF9,NOTCH2NL,PDE4DIP,SEC22B chr1 144787932 144791588 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF9 chr1 144787932 144791588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144800023 145023900 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBPF9,PDE4DIP chr1 144800023 145140950 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 NBPF9,PDE4DIP,SEC22B chr1 144800023 145140950 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBPF9,PDE4DIP,SEC22B chr1 144800023 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,CD160,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,PRKAB2,RBM8A,RNF115,SEC22B,TXNIP chr1 144801492 144801953 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF9 chr1 144801492 144801953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr1 144804015 144804084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF9 chr11 4481014 4590667 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 OR52K1,OR52M1 chr11 44823984 44868878 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSPAN18 chr11 44824534 44824634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN18 chr1 144831650 144831721 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 144835515 144835622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 44838451 44909450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSPAN18 chr11 44838451 44909450 Gain and loss Pancreatic cancer SNP array 17952125 TSPAN18 chr11 44838451 44909450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN18 chr1 144838594 146308287 Gain Autism qPCR 20531469 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144850663 144850819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 144850664 144850819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 144850811 145100447 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PDE4DIP,SEC22B chr1 144850811 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,CD160,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,PRKAB2,RBM8A,RNF115,SEC22B,TXNIP chr11 44851001 44893500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSPAN18 chr1 144862586 144862656 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144869219 144869314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4DIP chr11 44871927 44871997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN18 chr11 44879165 57277679 Gain Prostate cancer Array CGH 18632612 ACP2,AGBL2,AMBRA1,APLNR,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C1QTNF4,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,F2,FAM180B,FNBP4,FOLH1,GYLTL1B,HARBI1,KBTBD4,LOC100507384,LOC221122,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,LRRC55,MADD,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR10AG1,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5AK2,OR5AK4P,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,P2RX3,PACSIN3,PEX16,PHF21A,PRDM11,PRG2,PRG3,PSMC3,PTPMT1,PTPRJ,RAPSN,RTN4RL2,SLC35C1,SLC39A13,SLC43A1,SLC43A3,SNORD67,SPI1,SSRP1,SYT13,TNKS1BP1,TP53I11,TRIM48,TRIM49B,TRIM51,TRIM51GP,TRIM51HP,TRIM64C,TSPAN18,ZNF408 chr1 14488102 14488252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 44881900 44929416 Gain and loss Pancreatic cancer SNP array 17952125 TSPAN18 chr11 44881900 44929433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSPAN18 chr11 44881900 44929433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN18 chr11 44893501 44928500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSPAN18 chr1 144895942 144896013 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144904398 144904466 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr11 44905221 46139175 LOH Normal High-resolution SNP genotyping 21211785 C11orf94,CHST1,CRY2,DKFZp779M0652,GYLTL1B,LOC100507384,LOC221122,MAPK8IP1,PEX16,PHF21A,PRDM11,SLC35C1,SYT13,TP53I11,TSPAN18 chr1 144905760 144905830 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr11 44914792 44914861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN18 chr1 144917326 144917429 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144917350 144917429 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144920632 145100447 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PDE4DIP,SEC22B chr1 144920632 145140950 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PDE4DIP,SEC22B chr1 144920632 145671828 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PDE4DIP,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144920632 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,CD160,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,PRKAB2,RBM8A,RNF115,SEC22B,TXNIP chr1 144921648 144921802 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144921678 144921803 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr11 44922773 44922868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN18 chr1 144926034 144932236 Gain Normal aCGH 21627829 PDE4DIP chr1 144926034 144952145 Gain Normal aCGH 21627829 PDE4DIP chr1 144927052 144933305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4DIP chr1 144927743 144932744 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PDE4DIP chr11 44928501 44971000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TP53I11,TSPAN18 chr1 144940601 144940672 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144942589 144942688 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144942610 144942688 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144943150 144943150 Copy number Heart disease Illumina 660W-Quad chips and Affymetrix 6.0 chips 22199024 PDE4DIP chr1 144943150 145824905 Duplication Autism Illumina HumanHap550 BeadChip 20858243 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144946926 145140950 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PDE4DIP,SEC22B chr1 144946926 145463739 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HFE2,NBPF10,NOTCH2NL,PDE4DIP,POLR3GL,SEC22B,TXNIP chr1 144946926 145671828 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PDE4DIP,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144946926 145734052 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,CD160,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144946926 146600459 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 144946926 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,CD160,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,PRKAB2,RBM8A,RNF115,SEC22B,TXNIP chr1 144949414 144949577 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144959503 145062731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4DIP chr11 44965801 44965892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP53I11 chr11 44965837 44965933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP53I11 chr1 144965972 144966045 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144966117 145046723 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144967972 144967972 Copy number Heart disease Illumina 660W-Quad chips and Affymetrix 6.0 chips 22199024 PDE4DIP chr11 44970741 44970806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP53I11 chr1 144972901 144973029 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144972902 144973031 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144974324 146785994 Copy number gain Normal High-resolution SNP genotyping 21211785 ANKRD34A,ANKRD35,CD160,CHD1L,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,PRKAB2,RBM8A,RNF115,SEC22B,TXNIP chr1 144975554 144975715 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144975556 144975715 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr11 44987869 44987968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 144989002 144990663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4DIP chr1 144989780 144989940 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 144989780 144989941 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr11 4499281 4500394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 144998627 144998729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDE4DIP chr1 145000000 145900000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 145003071 145003171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4DIP chr11 45008688 46233555 LOH Normal High-resolution SNP genotyping 21211785 C11orf94,CHST1,CRY2,DKFZp779M0652,GYLTL1B,LOC100507384,MAPK8IP1,PEX16,PHF21A,PRDM11,SLC35C1,SYT13 chr1 145009580 145009580 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 PDE4DIP chr1 145009580 145009580 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 PDE4DIP chr1 145012395 145012495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4DIP chr1 145013719 146293282 Loss Autism - 20841430 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 145014558 145014623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4DIP chr1 145014985 145015085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4DIP chr11 45015034 45015134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 145016501 145019000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDE4DIP chr1 145016802 145016873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4DIP chr1 145017919 145018085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4DIP chr11 45019145 45019225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 145020516 145021752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4DIP chr11 45020523 45045543 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 45020794 46101888 LOH Normal High-resolution SNP genotyping 21211785 C11orf94,CHST1,CRY2,DKFZp779M0652,GYLTL1B,LOC100507384,MAPK8IP1,PEX16,PHF21A,PRDM11,SLC35C1,SYT13 chr1 145022124 145023968 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 145022788 145022927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4DIP chr1 145025645 145025941 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr1 145031795 146193043 Duplication Developmental delay array CGH 20808231 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 145031795 146193043 Duplication Obesity array CGH 20808231 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 145043332 145140950 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PDE4DIP,SEC22B chr1 145043332 145671828 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PDE4DIP,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 145043332 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD34A,ANKRD35,CD160,FMO5,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,PRKAB2,RBM8A,RNF115,SEC22B,TXNIP chr1 145069762 145070256 Gain and loss Pancreatic cancer SNP array 17952125 PDE4DIP chr11 45072139 45203479 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PRDM11 chr11 45072140 45203479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRDM11 chr11 45072140 45203479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDM11 chr11 45073933 45203214 Gain and loss Pancreatic cancer SNP array 17952125 PRDM11 chr1 145088383 145088441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 45089340 45089532 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 145091741 145124437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEC22B chr1 145091744 145091834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 145093000 145110000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SEC22B chr1 145093308 145110753 Copy number Lung cancer - 20668451 SEC22B chr1 145093308 145110753 Gain or loss Breast cancer - 20668451 SEC22B chr1 145093308 145110753 Gain or loss Cancer - 20668451 SEC22B chr1 145093308 145110753 Gain or loss Lung cancer - 20668451 SEC22B chr1 145093308 145110753 Gain or loss Ovarian cancer - 20668451 SEC22B chr1 145093308 145110753 Gain or loss Pancreas cancer - 20668451 SEC22B chr1 145093308 145110753 Gain or loss Prostate cancer - 20668451 SEC22B chr1 145093314 145110753 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SEC22B chr1 145093314 145110753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC22B chr1 145093314 145110753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC22B chr11 45101678 45101718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 45107453 45107538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 145109058 145109225 Gain and loss Pancreatic cancer SNP array 17952125 SEC22B chr1 145112766 145127244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEC22B chr1 145115708 145638670 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD34A,ANKRD35,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP chr1 145116308 145117830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC22B chr1 145116308 145117830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC22B chr1 145118501 145122110 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 145118554 145140760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145119362 145761156 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ANKRD34A,ANKRD35,CD160,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PDZK1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,TXNIP chr1 145122000 145163000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr1 145124326 145125713 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 145124462 145163569 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 145124462 145163569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145124462 145163569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145141495 145143137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145141495 145143137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145161770 145162564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145180000 145234000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOTCH2NL chr1 145180914 145234067 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOTCH2NL chr1 145180915 145234065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOTCH2NL chr1 145180915 145234065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOTCH2NL chr1 145180958 145234065 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOTCH2NL chr11 45187118 45192865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRDM11 chr11 45187118 45192865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDM11 chr11 45215401 45218823 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRDM11 chr11 45218428 45264446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRDM11,SYT13 chr11 45218428 45264446 Gain and loss Pancreatic cancer SNP array 17952125 PRDM11,SYT13 chr11 45218428 45264446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDM11,SYT13 chr11 4522997 4523950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4522997 4523950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4522997 4523950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145235348 145235384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOTCH2NL chr1 145257444 145258553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOTCH2NL chr11 45268281 47332052 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,F2,GYLTL1B,HARBI1,LOC100507384,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,NR1H3,PACSIN3,PEX16,PHF21A,SLC35C1,SNORD67,SYT13,ZNF408 chr11 4527481 4527551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 45277257 45277289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT13 chr1 145303997 145357746 Deletion Autism Array CGH 22102821 NBPF10 chr1 145303997 145357746 Homozyg deletion Autism Array CGH 22102821 NBPF10 chr11 4531076 4531394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 145338927 145359805 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NBPF10 chr1 145338955 146528758 Loss or gain Normal 244K array 17666407 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,HYDIN2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NUDT17,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,TXNIP chr1 145340435 145631785 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD34A,ANKRD35,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NUDT17,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,TXNIP chr1 145358550 145358651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF10 chr11 45370620 45401007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 45384401 45390200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 145384500 145384664 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 45386423 45388189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 45386439 45388250 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 45386501 45388000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 45387759 45387858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 145388414 145388414 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr1 145388414 145388414 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr11 45392501 45399500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 45397082 45397165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 45409371 47128366 LOH Normal High-resolution SNP genotyping 21211785 AMBRA1,ARHGAP1,ATG13,C11orf49,C11orf94,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DGKZ,DKFZp779M0652,F2,GYLTL1B,HARBI1,LOC100507384,LRP4,LRP4-AS1,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,PEX16,PHF21A,SLC35C1,SNORD67,ZNF408 chr1 145412428 145412525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145428068 145428141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 145428069 145428140 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 45466501 45477500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 145479000 145564000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479805 145564639 Amplification Intellectual disability 100k SNP Array 21811512 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479805 145564639 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479805 145564639 Gain or loss Breast cancer - 20668451 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479805 145564639 Gain or loss Cancer - 20668451 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479805 145564639 Gain or loss Lung cancer - 20668451 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479805 145564639 Gain or loss Ovarian cancer - 20668451 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479805 145564639 Gain or loss Pancreas cancer - 20668451 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479805 145564639 Gain or loss Prostate cancer - 20668451 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479806 145564641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr1 145479806 145564641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD35,GNRHR2,ITGA10,LIX1L,PEX11B,RBM8A chr11 4549229 4555626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4549229 4555626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4549229 4555626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145492319 145492388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIX1L chr1 145513740 145671828 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD35,GNRHR2,ITGA10,NUDT17,PEX11B,PIAS3,POLR3C,RNF115 chr1 145513740 146600459 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HYDIN2,ITGA10,LOC728989,NBPF11,NBPF24,NUDT17,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,RNF115 chr1 145513740 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD35,CD160,FMO5,GNRHR2,GPR89A,GPR89C,HYDIN2,ITGA10,LOC728989,NBPF11,NBPF24,NUDT17,PDIA3P,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,PRKAB2,RNF115 chr11 45539418 46121681 LOH Normal High-resolution SNP genotyping 21211785 C11orf94,CHST1,CRY2,DKFZp779M0652,GYLTL1B,LOC100507384,MAPK8IP1,PEX16,PHF21A,SLC35C1 chr1 14554092 29473750 Deletion Myelodysplastic syndrome - 21251322 ACTL8,AGMAT,AHDC1,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,ATPIF1,AUNIP,C1QA,C1QB,C1QC,C1orf126,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,C1orf64,CAMK2N1,CAPZB,CASP9,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA2A,CELA2B,CELA3A,CELA3B,CEP85,CLCNKA,CLCNKB,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,CROCCP3,CTRC,DDI2,DDOST,DHDDS,DNAJC16,DNAJC8,E2F2,ECE1,EFHD2,EIF4G3,EMC1,EPB41,EPHA2,EPHA8,EPHB2,ESPNP,EXTL1,EYA3,FAM110D,FAM131C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO42,FCN3,FGR,FHAD1,FLJ37453,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,KAZN,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MED18,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NR0B2,NUDC,OPRD1,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PHACTR4,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PNRC2,PPP1R8,PQLC2,PTAFR,RAB42,RAP1GAP,RCAN3,RCAN3AS,RCC1,RCC2,RHCE,RHD,RNF186,RNU11,RPA2,RPL11,RPS6KA1,RSC1A1,RSG1,RUNX3,SCARNA1,SDHB,SEPN1,SESN2,SFN,SH2D5,SH3BGRL3,SLC25A34,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SPATA21,SPEN,SRRM1,SRSF10,STMN1,STPG1,STX12,SYF2,SYTL1,SZRD1,TAF12,TAS1R2,TCEA3,TCEB3,THEMIS2,TMCO4,TMEM200B,TMEM222,TMEM50A,TMEM51,TMEM57,TMEM82,TRIM63,TRNAU1AP,TRNP1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,VWA5B1,WASF2,WDTC1,WNT4,XKR8,YTHDF2,ZBTB17,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 145546530 145546694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145556470 145697221 Copy number gain Normal High-resolution SNP genotyping 21211785 ANKRD35,CD160,NUDT17,PIAS3,POLR3C,RNF115 chr1 145558326 146600459 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD35,CD160,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,NUDT17,PDZK1,PDZK1P1,PIAS3,POLR3C,RNF115 chr1 145558326 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD35,CD160,FMO5,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,NUDT17,PDIA3P,PDZK1,PDZK1P1,PIAS3,POLR3C,PRKAB2,RNF115 chr1 145560629 145560719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD35 chr11 45561887 45561981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 45574869 45574969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1455772 1456090 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATAD3A chr1 1455775 1456093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATAD3A chr1 145585000 145609000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NUDT17,PIAS3,POLR3C chr1 145585791 145609258 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NUDT17,PIAS3,POLR3C chr1 145585791 145609258 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NUDT17,PIAS3,POLR3C chr1 145585794 145608988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUDT17,PIAS3,POLR3C chr1 145585794 145608988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUDT17,PIAS3,POLR3C chr1 145594226 145594226 Copy number Heart disease Illumina 660W-Quad chips and Affymetrix 6.0 chips 22199024 POLR3C chr1 1456176 1461412 Gain and loss Pancreatic cancer SNP array 17952125 ATAD3A chr1 145619501 145621000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNF115 chr11 45627003 45643748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 45627003 45643748 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 45627003 45643748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 45628001 45653500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 145628008 145628280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF115 chr11 45631140 46810665 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AMBRA1,ARHGAP1,ATG13,C11orf94,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DGKZ,DKFZp779M0652,F2,GYLTL1B,HARBI1,LOC100507384,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,PEX16,PHF21A,SLC35C1,SNORD67,ZNF408 chr11 45635556 48005596 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C1QTNF4,CELF1,CHRM4,CHST1,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,KBTBD4,LOC100507384,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PEX16,PHF21A,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC35C1,SLC39A13,SNORD67,SPI1,ZNF408 chr1 145636661 145636751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF115 chr1 145644048 145646245 Gain and loss Pancreatic cancer SNP array 17952125 RNF115 chr11 4564619 4565671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4564619 4565671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4564685 4565620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145658465 145658465 Copy number Heart disease Illumina 660W-Quad chips and Affymetrix 6.0 chips 22199024 RNF115 chr1 145658466 145658466 Copy number Heart disease Illumina 660W-Quad chips and Affymetrix 6.0 chips 22199024 RNF115 chr1 145669088 145683179 Gain and loss Pancreatic cancer SNP array 17952125 RNF115 chr1 145669829 146093292 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD160,GPR89A,GPR89C,NBPF11,NBPF24,PDZK1,PDZK1P1,RNF115 chr1 145669829 146600459 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD160,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDZK1,PDZK1P1,RNF115 chr1 145669829 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD160,FMO5,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1,PDZK1P1,PRKAB2,RNF115 chr1 145669829 146711869 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD160,FMO5,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1,PDZK1P1,PRKAB2,RNF115 chr11 45674668 45674768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST1 chr1 145680207 145682505 Gain and loss Pancreatic cancer SNP array 17952125 RNF115 chr1 145686817 146572267 Deletion Breast cancer FISH 17142309 CD160,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDZK1,PDZK1P1,RNF115 chr1 145692875 145692970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145692886 145692974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145694000 145699000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CD160 chr1 145694956 145712108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD160 chr1 145694956 145712108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD160 chr1 145712378 145712960 Gain and loss Pancreatic cancer SNP array 17952125 CD160 chr11 4571613 4572819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4571613 4572819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145722105 145722461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 45731604 45731704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 45749559 45750484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4576481 4586027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4576481 4586027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4576481 4586027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 45767701 48449500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,DKFZp779M0652,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PEX16,PHF21A,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC35C1,SLC39A13,SNORD67,SPI1,ZNF408 chr1 145779720 145781161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR89A chr1 145779720 145781161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR89A chr11 45783217 45791142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 45783217 45791142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 45783217 45791142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145784053 146093292 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR89A,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 145784053 146600459 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDZK1P1 chr1 145784053 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FMO5,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1P1,PRKAB2 chr1 145784053 146711869 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FMO5,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1P1,PRKAB2 chr1 145784053 146803586 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHD1L,FMO5,GPR89A,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1P1,PRKAB2 chr11 45791371 45826435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DKFZp779M0652,SLC35C1 chr1 145797568 145849444 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPR89A chr11 45804729 45804873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 45804729 45804873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 45825605 45861372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC35C1 chr11 45825605 45861372 Gain and loss Pancreatic cancer SNP array 17952125 SLC35C1 chr11 45825605 45861372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35C1 chr1 145827064 149226217 LOH Normal High-resolution SNP genotyping 21211785 ACP6,BCL9,CHD1L,FLJ39739,FMO5,GJA5,GJA8,GPR89A,GPR89B,GPR89C,HYDIN2,LINC00624,LOC645166,LOC728989,MIR5087,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,PDIA3P,PDZK1P1,PPIAL4A,PPIAL4B,PPIAL4D,PPIAL4E,PPIAL4F,PRKAB2 chr11 458312 4579143 Copy number Autism exome sequencing 22495311 AP2A2,ART1,ART5,ASCL2,BRSK2,C11orf21,C11orf35,CARS,CD151,CD81,CDHR5,CDKN1C,CEND1,CHID1,CHRNA10,CTSD,DEAF1,DRD4,DUSP8,EFCAB4A,EPS8L2,FAM99A,FAM99B,H19,HRAS,IFITM10,IGF2,IGF2-AS,INS,INS-IGF2,IRF7,KCNQ1,KCNQ1DN,KCNQ1OT1,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC100506082,LOC143666,LOC255512,LOC338651,LOC650368,LRRC56,LSP1,MIR210,MIR210HG,MIR4298,MIR4686,MIR4687,MIR483,MIR675,MOB2,MRGPRE,MRGPRG,MRGPRG-AS1,MRPL23,MRPL23-AS1,MUC2,MUC5B,MUC6,NAP1L4,NS3BP,NUP98,OR52B4,OR52K1,OR52K2,OR52M1,OR7E12P,OSBPL5,PDDC1,PGAP2,PHLDA2,PHRF1,PIDD,PNPLA2,POLR2L,PTDSS2,RASSF7,RHOG,RNH1,RPLP2,RRM1,SCT,SLC22A18,SLC22A18AS,SLC25A22,SNORA52,SNORA54,STIM1,SYT8,TALDO1,TH,TMEM80,TNNI2,TNNT3,TOLLIP,TRIM21,TRPC2,TRPM5,TSPAN32,TSPAN4,TSSC4,ZNF195 chr1 145841000 145848000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr1 145841560 145848017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145841560 145848017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 45842201 45842306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 145843024 149370431 LOH Normal High-resolution SNP genotyping 21211785 ACP6,BCL9,CHD1L,FCGR1C,FLJ39739,FMO5,GJA5,GJA8,GPR89B,GPR89C,HYDIN2,LINC00624,LOC388692,LOC645166,LOC728989,MIR5087,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,PDIA3P,PDZK1P1,PPIAL4A,PPIAL4B,PPIAL4D,PPIAL4E,PPIAL4F,PRKAB2 chr1 145856785 145857091 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 145858956 145859027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 45863777 45884592 Gain or loss Breast cancer - 20668451 CRY2 chr11 45863777 45884592 Gain or loss Cancer - 20668451 CRY2 chr11 45863777 45884592 Gain or loss Lung cancer - 20668451 CRY2 chr11 45863777 45884592 Gain or loss Ovarian cancer - 20668451 CRY2 chr11 45863777 45884592 Gain or loss Pancreas cancer - 20668451 CRY2 chr11 45863777 45884592 Gain or loss Prostate cancer - 20668451 CRY2 chr11 45863778 45884591 Gain and loss Pancreatic cancer SNP array 17952125 CRY2 chr11 45863778 45884592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRY2 chr11 45863778 45884592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRY2 chr11 45864001 45910500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRY2,MAPK8IP1 chr1 145867000 145932000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 GPR89C,PDZK1P1 chr1 145867130 145932371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR89C,PDZK1P1 chr1 145867130 145932371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR89C,PDZK1P1 chr11 45868220 45868300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 45870424 47198058 LOH Normal High-resolution SNP genotyping 21211785 AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,CHRM4,CKAP5,CREB3L1,CRY2,DGKZ,F2,GYLTL1B,HARBI1,LRP4,LRP4-AS1,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,PEX16,PHF21A,SNORD67,ZNF408 chr11 45870424 48085540 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C11orf94,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,CRY2,DDB2,DGKZ,F2,FAM180B,FNBP4,GYLTL1B,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MAPK8IP1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PEX16,PHF21A,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 45884142 45884217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRY2 chr11 45884868 45884968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRY2 chr11 45887797 45896182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRY2 chr11 45887797 45896182 Gain and loss Pancreatic cancer SNP array 17952125 CRY2 chr11 45887797 45896182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRY2 chr1 145888591 146600459 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDZK1P1 chr1 145888591 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FMO5,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1P1,PRKAB2 chr1 145888591 146803586 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHD1L,FMO5,GPR89C,HYDIN2,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1P1,PRKAB2 chr1 145892000 145932000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 GPR89C,PDZK1P1 chr1 145894411 145894780 Gain and loss Pancreatic cancer SNP array 17952125 GPR89C chr11 45899772 45907223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRY2,MAPK8IP1 chr11 45899772 45907223 Gain and loss Pancreatic cancer SNP array 17952125 CRY2,MAPK8IP1 chr11 45899772 45907223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRY2,MAPK8IP1 chr11 45903302 45903378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRY2 chr11 45907447 46099561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf94,GYLTL1B,MAPK8IP1,PEX16,PHF21A chr11 45907447 46099561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf94,GYLTL1B,MAPK8IP1,PEX16,PHF21A chr11 45910693 46099305 Gain and loss Pancreatic cancer SNP array 17952125 C11orf94,GYLTL1B,MAPK8IP1,PEX16,PHF21A chr11 45918501 46097500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf94,GYLTL1B,MAPK8IP1,PEX16,PHF21A chr1 145923370 145958684 Gain Normal BAC array 16365383 GPR89C,PDZK1P1 chr1 145926306 145926468 Gain and loss Pancreatic cancer SNP array 17952125 PDZK1P1 chr1 145926341 145926468 Gain and loss Pancreatic cancer SNP array 17952125 PDZK1P1 chr1 145927517 145927587 Gain and loss Pancreatic cancer SNP array 17952125 PDZK1P1 chr11 45929623 45929706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 145932718 145950955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDZK1P1 chr11 45936905 45937005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEX16 chr1 145940029 222350209 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABL2,ACBD6,ACP6,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADIPOR1,ADORA1,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARL8A,ARNT,ARPC5,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALT2,B4GALT3,BATF3,BCAN,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf140,C1orf186,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf68,C1orf74,C1orf85,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHIT1,CHRNB2,CHTOP,CKS1B,CLK2,CNTN2,COPA,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DENND1B,DENND4B,DHX9,DIEXF,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DYRK3,ECM1,EDEM3,EFNA1,EFNA3,EFNA4,EIF2D,ELF3,ELK4,ENSA,EPRS,ESRRG,ETNK2,ETV3,ETV3L,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM91A2,FASLG,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FLJ39739,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GJA5,GJA8,GLRX2,GLT25D2,GLUL,GM140,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR161,GPR25,GPR37L1,GPR52,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HHAT,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HLX,HMCN1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,HYDIN2,IARS2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF6,ISG20L2,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNH1,KCNJ10,KCNJ9,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1614,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LEMD1,LEMD1-AS1,LENEP,LGR6,LHX4,LHX9,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LMNA,LMOD1,LMX1A,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148696,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC388692,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC645166,LOC646268,LOC728463,LOC728989,LOC730102,LOC730159,LOC730227,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,MAEL,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4654,MIR4735,MIR488,MIR5087,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTRK1,NUAK2,NUCKS1,NUF2,NUP210L,OAZ3,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PDIA3P,PDZK1P1,PEA15,PEAR1,PEX19,PFDN2,PFKFB2,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAPIN,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRGAP2,SSR2,STX6,SUCO,SUMO1P3,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAGLN2,TARS2,TATDN3,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRAF3IP3,TRAF5,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,TUFT1,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF281,ZNF648,ZNF687 chr1 145941220 145941291 Gain and loss Pancreatic cancer SNP array 17952125 PDZK1P1 chr1 145944833 145978196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 145949890 145949961 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145953273 145953439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 145953503 145953573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145967170 145967274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145967185 145967274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145973698 145973861 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4597598 4620532 Loss Normal Quantitative PCR 18989455 C11orf40,OR52I1,OR52I2,TRIM68 chr1 145977628 145977791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4598200 4598300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf40 chr1 145991540 145991613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 45992812 45993158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PHF21A chr1 145994762 145994890 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 145994763 145994892 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146003650 146003813 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 14600630 14600730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 46007455 46007544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHF21A chr11 46018071 46018171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHF21A chr1 146019492 146032680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF11,NBPF24 chr1 146019492 146032680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF11,NBPF24 chr11 46019541 46019641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHF21A chr1 14603700 14607241 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 146040948 146076705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF11,NBPF24 chr1 146040948 146076705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF11,NBPF24 chr1 146041404 146063219 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NBPF11,NBPF24 chr1 146042000 146076000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NBPF11,NBPF24 chr1 1460429 1465603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD3A chr1 1460429 1465603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD3A chr1 146058377 146058449 Gain and loss Pancreatic cancer SNP array 17952125 NBPF11,NBPF24 chr1 146065697 146065914 Gain and loss Pancreatic cancer SNP array 17952125 NBPF11,NBPF24 chr1 146065771 146065912 Gain and loss Pancreatic cancer SNP array 17952125 NBPF11,NBPF24 chr1 146066951 146067022 Gain and loss Pancreatic cancer SNP array 17952125 NBPF11,NBPF24 chr1 146068404 146068805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF11,NBPF24 chr1 146085035 146088691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146085035 146088691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146098591 146099052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146102223 146214718 Gain Normal BAC array 16365383 NOT_FOUND chr11 46115801 46120600 Deletion Glioma mate-paired sequence 20126413 PHF21A chr11 46117594 46118974 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PHF21A chr11 46121681 47332052 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,HARBI1,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,NR1H3,PACSIN3,PHF21A,SNORD67,ZNF408 chr11 46127512 47325903 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,HARBI1,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,NR1H3,PACSIN3,PHF21A,SNORD67,ZNF408 chr11 46132205 48005596 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PHF21A,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr1 146173197 146173231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4617597 4618571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4617597 4618571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4617597 4618571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146179628 146297795 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 146183362 146183433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146185064 146185580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46186693 46186808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 46188078 46701579 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 AMBRA1,ARHGAP1,ATG13,CHRM4,CREB3L1,DGKZ,HARBI1,MDK,MIR3160-1,MIR3160-2,MIR4688 chr11 46195685 48036318 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 46195685 51052508 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,FOLH1,HARBI1,KBTBD4,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,TRIM49B,TRIM51GP,TRIM64C,ZNF408 chr11 46195685 51449216 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,FOLH1,HARBI1,KBTBD4,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,TRIM49B,TRIM51GP,TRIM64C,ZNF408 chr11 46198863 46244118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 146202375 146202531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 14620400 144979000 Deletion or duplication Normal - 21701786 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,ACTL8,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,AP4B1,AP4B1-AS1,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP85,CEPT1,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FBLIM1,FBXO42,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00622,LINC00623,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIK1L,PDZK1IP1,PDZK1IP1-AS1,PEF1,PFN1P2,PGCP1,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLK3,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 4621226 4631727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM68 chr11 4621226 4631727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM68 chr1 146212618 146213387 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 146214298 146214368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4621788 4633288 Gain and loss Pancreatic cancer SNP array 17952125 TRIM68 chr11 46222286 46222398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 46222286 46222400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146226731 146227681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46227113 48036318 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 46229940 49005912 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,TRIM51GP,ZNF408 chr11 46229940 49979308 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,FOLH1,HARBI1,KBTBD4,LOC440040,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,TRIM49B,TRIM51GP,TRIM64C,ZNF408 chr11 46229940 51449216 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,FOLH1,HARBI1,KBTBD4,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,TRIM49B,TRIM51GP,TRIM64C,ZNF408 chr11 46233555 47198058 LOH Normal High-resolution SNP genotyping 21211785 AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,CHRM4,CKAP5,CREB3L1,DGKZ,F2,HARBI1,LRP4,LRP4-AS1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,SNORD67,ZNF408 chr1 146237638 146238027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 46238955 48049973 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 46238955 48059412 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 46238955 48064625 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr1 146247654 146247725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46251419 48059412 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 46251419 48064625 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 46255804 46299546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREB3L1 chr11 46255804 46299546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREB3L1 chr1 146256110 146256178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46256136 46299546 Gain and loss Pancreatic cancer SNP array 17952125 CREB3L1 chr1 146256423 146256753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146257472 146257542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46257575 47332052 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,HARBI1,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,NR1H3,PACSIN3,SNORD67,ZNF408 chr11 46257575 50182047 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,FOLH1,HARBI1,KBTBD4,LOC440040,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,TRIM49B,TRIM51GP,TRIM64C,ZNF408 chr11 46263819 46263919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 146265358 148164994 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-276K arrays 21546498 ACP6,BCL9,CHD1L,FLJ39739,FMO5,GJA5,GJA8,GPR89B,GPR89C,HYDIN2,LINC00624,LOC728989,MIR5087,NBPF11,NBPF14,NBPF24,PDIA3P,PDZK1P1,PPIAL4A,PPIAL4B,PRKAB2 chr1 146273360 146273510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46283409 47332052 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,HARBI1,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,NR1H3,PACSIN3,SNORD67,ZNF408 chr11 46283409 47333922 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,HARBI1,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,NR1H3,PACSIN3,SNORD67,ZNF408 chr11 46290130 47077155 LOH Normal High-resolution SNP genotyping 21211785 AMBRA1,ARHGAP1,ATG13,C11orf49,CHRM4,CKAP5,CREB3L1,DGKZ,F2,HARBI1,LRP4,LRP4-AS1,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,SNORD67,ZNF408 chr11 46290130 48474325 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 46290130 49001090 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,TRIM51GP,ZNF408 chr1 146292313 146292384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4629527 4629596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 146301126 146301289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146301751 146398559 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HYDIN2 chr11 46311031 46358677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREB3L1,DGKZ chr11 46311031 46358677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREB3L1,DGKZ chr11 46311031 46358680 Gain and loss Pancreatic cancer SNP array 17952125 CREB3L1,DGKZ chr1 146317684 146317757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYDIN2 chr1 146327163 146327329 Gain and loss Pancreatic cancer SNP array 17952125 HYDIN2 chr1 146327267 146327427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYDIN2 chr11 46338501 46369000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CREB3L1,DGKZ chr11 46339864 49001090 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,AMBRA1,ARFGAP2,ARHGAP1,ATG13,C11orf49,C1QTNF4,CELF1,CHRM4,CKAP5,CREB3L1,DDB2,DGKZ,F2,FAM180B,FNBP4,HARBI1,KBTBD4,LRP4,LRP4-AS1,MADD,MDK,MIR3160-1,MIR3160-2,MIR4688,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,TRIM51GP,ZNF408 chr1 146341492 146341653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146354049 146364417 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 146354049 146364417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146354049 146364417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46356254 46397079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DGKZ chr11 46358882 46361951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGKZ chr11 46358882 46361951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKZ chr11 46359194 46361945 Gain and loss Pancreatic cancer SNP array 17952125 DGKZ chr11 46363224 46364734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKZ chr11 46363244 46363803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGKZ chr11 46363244 46363803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKZ chr11 46363244 46364683 Gain and loss Pancreatic cancer SNP array 17952125 DGKZ chr1 146365767 146369583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146373839 146375680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146373839 146375680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46374540 46572145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMBRA1,CHRM4,DGKZ,MDK,MIR3160-1,MIR3160-2,MIR4688 chr11 46374540 46572145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMBRA1,CHRM4,DGKZ,MDK,MIR3160-1,MIR3160-2,MIR4688 chr11 46374540 46572147 Gain and loss Pancreatic cancer SNP array 17952125 AMBRA1,CHRM4,DGKZ,MDK,MIR3160-1,MIR3160-2,MIR4688 chr11 4637459 4637559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 46376394 46376494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGKZ chr11 4638659 4639539 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4638659 4639539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46390001 46651000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMBRA1,ATG13,CHRM4,DGKZ,HARBI1,MDK,MIR3160-1,MIR3160-2,MIR4688 chr1 146418535 146422374 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 146418535 146422374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146418535 146422374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146418990 146419152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146418990 146419153 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146421000 146422000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr11 46453436 46453526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMBRA1 chr1 146460770 146460937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146466837 146467118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146470000 146492000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LOC728989 chr1 146470284 146492485 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC728989 chr1 146470284 146492485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728989 chr1 146470284 146492485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728989 chr1 146484724 146484941 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146484798 146484939 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146485978 146486049 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146493283 146493353 Gain and loss Pancreatic cancer SNP array 17952125 LOC728989 chr1 146495450 146539696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC728989 chr1 1 46500000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MMACHC,MMEL1,MMP23A,MMP23B,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr1 1 46500000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LOC729737,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MMACHC,MMEL1,MMP23A,MMP23B,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr1 146506369 146506369 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 LOC728989 chr1 146506369 146506369 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 LOC728989 chr1 146514610 148102224 Gain Anaplastic thyroid cancer 33K microarrays 18753363 ACP6,BCL9,CHD1L,FLJ39739,FMO5,GJA5,GJA8,GPR89B,GPR89C,LINC00624,MIR5087,NBPF11,NBPF14,NBPF24,PDIA3P,PDZK1P1,PPIAL4A,PPIAL4B,PRKAB2 chr1 146518821 146553716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 146522914 146711869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FMO5,PDIA3P,PRKAB2 chr1 146541344 146541414 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146559962 146560480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146567361 146577146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146568000 146569000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr1 146568591 146569085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 14657613 14684792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 146577163 146577837 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4657976 4675645 Gain or loss Breast cancer - 20668451 OR51D1,OR51E1 chr11 4657976 4675645 Gain or loss Cancer - 20668451 OR51D1,OR51E1 chr11 4657976 4675645 Gain or loss Lung cancer - 20668451 OR51D1,OR51E1 chr11 4657976 4675645 Gain or loss Ovarian cancer - 20668451 OR51D1,OR51E1 chr11 4657976 4675645 Gain or loss Pancreas cancer - 20668451 OR51D1,OR51E1 chr11 4657976 4675645 Gain or loss Prostate cancer - 20668451 OR51D1,OR51E1 chr11 4657977 4675648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51D1,OR51E1 chr11 4657977 4675648 Gain and loss Pancreatic cancer SNP array 17952125 OR51D1,OR51E1 chr11 4657977 4675648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51D1,OR51E1 chr11 46581124 46595353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMBRA1 chr11 46581124 46595353 Gain and loss Pancreatic cancer SNP array 17952125 AMBRA1 chr11 46581124 46595353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMBRA1 chr11 46581432 46595353 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 AMBRA1 chr1 146587817 146587906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 46595667 46652638 Gain and loss Pancreatic cancer SNP array 17952125 AMBRA1,ATG13,HARBI1 chr11 46595722 46652638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMBRA1,ATG13,HARBI1 chr11 46595722 46652638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMBRA1,ATG13,HARBI1 chr1 146596571 146596951 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146597899 146598309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146599106 146628218 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 PRKAB2 chr1 146608089 146608252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146616873 146713675 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FMO5,PDIA3P,PRKAB2 chr1 146616873 146713675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMO5,PDIA3P,PRKAB2 chr1 146617315 146619267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 146626946 146627338 Gain and loss Pancreatic cancer SNP array 17952125 PRKAB2 chr1 146627614 146628282 Gain and loss Pancreatic cancer SNP array 17952125 PRKAB2 chr1 146643825 146645777 Gain and loss Pancreatic cancer SNP array 17952125 PRKAB2 chr11 46655210 46678696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG13 chr11 46655210 46678696 Gain and loss Pancreatic cancer SNP array 17952125 ATG13 chr11 46655210 46678696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG13 chr1 146670883 146671263 Gain and loss Pancreatic cancer SNP array 17952125 FMO5 chr1 146671598 146672034 Gain and loss Pancreatic cancer SNP array 17952125 FMO5 chr1 146672147 146672539 Gain and loss Pancreatic cancer SNP array 17952125 FMO5 chr11 46678944 46684037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG13 chr11 46678944 46684037 Gain and loss Pancreatic cancer SNP array 17952125 ATG13 chr11 46678944 46684037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG13 chr1 14668208 14668303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 146683621 146683706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMO5 chr1 146684248 146685420 Gain and loss Pancreatic cancer SNP array 17952125 FMO5 chr11 4668564 4669970 Gain and loss Pancreatic cancer SNP array 17952125 OR51E1 chr11 4668564 4669970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51E1 chr1 146687949 146702507 Gain and loss Pancreatic cancer SNP array 17952125 FMO5 chr1 1466917 1500125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD3A,SSU72,TMEM240 chr1 1466917 1500125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD3A,SSU72,TMEM240 chr11 46695710 46727616 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP1,ATG13,ZNF408 chr11 46695710 46743356 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP1,ATG13,F2,ZNF408 chr11 46697331 46717631 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP1,ATG13 chr11 46697331 46717631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP1,ATG13 chr1 14670506 15138362 Gain and loss Pancreatic cancer SNP array 17952125 KAZN chr11 4670628 4688274 Gain and loss Pancreatic cancer SNP array 17952125 OR51E1 chr1 146708283 146713309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 46709501 46846000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP1,CKAP5,F2,MIR5582,SNORD67,ZNF408 chr1 146713617 146721800 Gain and loss Pancreatic cancer SNP array 17952125 CHD1L chr1 146715880 146716281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD1L chr11 46717165 48722443 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACP2,AGBL2,ARFGAP2,ARHGAP1,C11orf49,C1QTNF4,CELF1,CKAP5,DDB2,F2,FAM180B,FNBP4,KBTBD4,LRP4,LRP4-AS1,MADD,MIR5582,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SNORD67,SPI1,ZNF408 chr11 46721662 46799397 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP1,CKAP5,F2,MIR5582,SNORD67,ZNF408 chr11 46721662 46824419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP1,CKAP5,F2,MIR5582,SNORD67,ZNF408 chr11 46721662 46824419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP1,CKAP5,F2,MIR5582,SNORD67,ZNF408 chr1 146728413 146762562 Gain and loss Pancreatic cancer SNP array 17952125 CHD1L chr11 46740515 46740625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46757640 46757909 Gain and loss Pancreatic cancer SNP array 17952125 F2 chr11 46757640 46757909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 F2 chr11 46758048 46758254 Gain and loss Pancreatic cancer SNP array 17952125 F2 chr11 46758048 46758254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 F2 chr1 146780414 146780429 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 146780429 147017157 Gain or loss Normal Birdsuite, version 1.5.2 22087296 BCL9,LINC00624 chr1 146800000 147200000 Loss Lung squamous cell carcinoma sub-megabase resolution tiling-set rearray platform 20842114 ACP6,BCL9,LINC00624 chr1 146809497 146811752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 46810665 47638719 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACP2,ARFGAP2,C11orf49,C1QTNF4,CELF1,CKAP5,DDB2,FAM180B,KBTBD4,LRP4,LRP4-AS1,MADD,MYBPC3,NDUFS3,NR1H3,PACSIN3,PSMC3,PTPMT1,RAPSN,SLC39A13,SPI1 chr11 46811518 46811903 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CKAP5 chr1 146822088 147516071 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,LINC00624,PDZK1P1 chr1 146822750 146824593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 4682636 6102444 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 HBB,HBBP1,HBD,HBE1,HBG1,HBG2,MMP26,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52J3,OR52L1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,TRIM22,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,UBQLN3,UBQLNL chr1 146827000 146862000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LINC00624 chr1 146827614 146862781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00624 chr1 146827614 146862781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00624 chr1 146827614 147118817 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCL9,LINC00624 chr11 4683016 15036492 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADM,AKIP1,AMPD3,APBB1,ARFIP2,ARNTL,ASCL3,BTBD10,C11orf16,C11orf42,CALCA,CCKBR,CNGA4,COPB1,CSNK2A1P,CTR9,CYB5R2,CYP2R1,DCHS1,DENND5A,DKK3,DNHD1,EIF3F,EIF4G2,FAM160A2,FAR1,FXC1,GALNTL4,GVINP1,HBB,HBBP1,HBD,HBE1,HBG1,HBG2,HPX,ILK,IPO7,KRT8P41,LMO1,LOC100506305,LOC283299,LOC440028,LOC644656,LOC729013,LYVE1,MICAL2,MICALCL,MIR4299,MIR4485,MIR5691,MMP26,MRPL17,MRVI1,MRVI1-AS1,MTRNR2L8,NLRP10,NLRP14,NRIP3,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR2AG1,OR2AG2,OR2D2,OR2D3,OR51A2,OR51A4,OR51A7,OR51B2,OR51B4,OR51B5,OR51B6,OR51E2,OR51F1,OR51F2,OR51G1,OR51G2,OR51I1,OR51I2,OR51L1,OR51M1,OR51Q1,OR51S1,OR51T1,OR51V1,OR52A1,OR52A5,OR52B2,OR52B6,OR52D1,OR52E2,OR52E4,OR52E6,OR52E8,OR52H1,OR52J3,OR52L1,OR52N1,OR52N2,OR52N4,OR52N5,OR52R1,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR5E1P,OR5P2,OR5P3,OR6A2,OVCH2,PARVA,PDE3B,PPFIBP2,PRKCDBP,PSMA1,PTH,RASSF10,RBMXL2,RIC3,RNF141,RPL27A,RRAS2,RRP8,SBF2,SBF2-AS1,SCUBE2,SMPD1,SNORA23,SNORA3,SNORA45,SNORD97,SPON1,ST5,STK33,SWAP70,SYT9,TAF10,TEAD1,TMEM41B,TMEM9B,TPP1,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM66,TUB,UBQLN3,UBQLNL,USP47,WEE1,ZBED5,ZNF143,ZNF214,ZNF215 chr11 46834995 46896506 Gain and loss Pancreatic cancer SNP array 17952125 CKAP5,LRP4,LRP4-AS1 chr11 46834995 46896749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CKAP5,LRP4,LRP4-AS1 chr11 46834995 46896749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CKAP5,LRP4,LRP4-AS1 chr11 46837890 48710838 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACP2,AGBL2,ARFGAP2,C11orf49,C1QTNF4,CELF1,CKAP5,DDB2,FAM180B,FNBP4,KBTBD4,LRP4,LRP4-AS1,MADD,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1 chr1 146841316 146841516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146841681 146862201 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 LINC00624 chr1 146843000 146862000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LINC00624 chr11 46847562 46847662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CKAP5 chr1 146852442 146930577 Gain and loss Pancreatic cancer SNP array 17952125 LINC00624 chr11 46863224 49090380 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,ARFGAP2,C11orf49,C1QTNF4,CELF1,CKAP5,DDB2,FAM180B,FNBP4,KBTBD4,LRP4,LRP4-AS1,MADD,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM49B,TRIM51GP,TRIM64C chr11 46863224 51449216 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,ARFGAP2,C11orf49,C1QTNF4,CELF1,CKAP5,DDB2,FAM180B,FNBP4,FOLH1,KBTBD4,LOC440040,LOC441601,LOC646813,LRP4,LRP4-AS1,MADD,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM49B,TRIM51GP,TRIM64C chr11 4686326 4688274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 146865088 146865600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00624 chr11 46868730 46902013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRP4,LRP4-AS1 chr1 146871532 146871696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00624 chr1 146894181 147456930 Deletion Normal Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,LINC00624 chr1 146894181 147526028 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,LINC00624,PDZK1P1 chr1 146894181 147572680 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,LINC00624,PDZK1P1 chr11 46897501 47014500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf49,LRP4 chr1 146910000 146911000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LINC00624 chr1 146910677 146911276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00624 chr11 46911649 46911743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP4 chr11 46914827 47142503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf49,LRP4 chr11 46914827 47142503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf49,LRP4 chr11 46914870 47140372 Gain and loss Pancreatic cancer SNP array 17952125 C11orf49,LRP4 chr1 146934840 146944901 Gain and loss Pancreatic cancer SNP array 17952125 LINC00624 chr1 146980171 146980254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00624 chr1 146997003 146997296 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 46997139 46997229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf49 chr11 46998766 46998856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf49 chr1 147000000 150300000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACP6,ANP32E,APH1A,BCL9,BOLA1,C1orf51,C1orf54,CA14,FAM91A2,FCGR1A,FCGR1C,FLJ39739,GJA5,GJA8,GPR89B,GPR89C,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,LINC00623,LOC388692,LOC645166,MIR5087,MRPS21,MTMR11,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,OTUD7B,PDZK1P1,PLEKHO1,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PRPF3,SF3B4,SV2A,VPS45 chr1 147000080 147000460 Gain Normal BAC array 16365383 NOT_FOUND chr1 147001408 147001818 Gain Normal BAC array 16365383 NOT_FOUND chr1 147003352 147003552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47003823 47028973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf49 chr11 47004272 47004372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf49 chr1 147004580 147024402 Gain Normal aCGH 21627829 BCL9 chr11 47004656 47021690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf49 chr1 147006000 147024000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 BCL9 chr1 147006066 147021207 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147006173 147024935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL9 chr1 147006173 147024935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL9 chr1 147008484 147090322 Gain Normal aCGH 21627829 BCL9 chr11 47010857 47021343 Loss Normal 244K array 17666407 C11orf49 chr11 47012301 47022100 Deletion Glioma mate-paired sequence 20126413 C11orf49 chr11 47013336 47020335 Deletion Normal TaqMan assays 20972442 C11orf49 chr11 47014164 47020280 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C11orf49 chr11 47014165 47020265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C11orf49 chr1 147014265 147329439 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACP6,BCL9,GJA5 chr1 147014265 147349249 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5 chr1 147014265 147355948 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5 chr1 147014265 147469490 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147014265 147475972 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147014265 147496455 Deletion Normal Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147014265 147526028 Deletion Normal Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147014265 147572680 Deletion Normal Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147014265 147788452 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147014265 148039121 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,FLJ39739,GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF14,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr11 47014463 47020023 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C11orf49 chr11 47014501 47020000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf49 chr11 47014646 47020466 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C11orf49 chr1 147017157 147056085 Gain or loss Normal Birdsuite, version 1.5.2 22087296 BCL9 chr1 147017157 147958358 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACP6,BCL9,FLJ39739,GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr1 147018672 147053432 Gain Normal aCGH 21627829 BCL9 chr11 47020001 47122500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf49 chr1 147020824 147022776 Gain Normal BAC array 16365383 BCL9 chr1 147022388 147022574 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147022388 147022577 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147027130 147027642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL9 chr1 147030455 147030847 Gain Normal BAC array 16365383 BCL9 chr1 147030874 147058480 Gain Normal aCGH 21627829 BCL9 chr1 147033562 147033726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL9 chr1 1470336 1489746 Gain and loss Pancreatic cancer SNP array 17952125 SSU72,TMEM240 chr1 147039210 147039773 Gain Normal BAC array 16365383 BCL9 chr1 147040763 147042418 Gain Normal BAC array 16365383 BCL9 chr1 147043242 147050534 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147047166 147047267 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147047334 147049286 Gain Normal BAC array 16365383 BCL9 chr1 147050879 147054489 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147056085 147173241 Gain Normal Birdsuite, version 1.5.2 22087296 ACP6,BCL9 chr1 147056085 147471130 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ACP6,BCL9,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147058271 147066394 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147068026 147072575 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr11 47072240 47106390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf49 chr1 147072681 147073280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL9 chr1 147074392 147074772 Gain Normal BAC array 16365383 BCL9 chr1 147079342 147093892 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147081552 148038138 LOH Normal High-resolution SNP genotyping 21211785 ACP6,BCL9,FLJ39739,GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF14,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr1 147082674 147104294 Gain and loss Pancreatic cancer SNP array 17952125 BCL9 chr1 147092894 147092994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL9 chr1 147098505 147098582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 147107091 147138741 Gain and loss Pancreatic cancer SNP array 17952125 ACP6 chr1 147110750 147120499 Gain Normal TaqMan assays 20972442 ACP6 chr1 147112251 147195000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACP6 chr1 147120427 147120744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACP6 chr1 147120762 147158364 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACP6 chr1 147120762 147158364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACP6 chr11 47130638 47376239 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ACP2,ARFGAP2,C11orf49,DDB2,MADD,MYBPC3,NR1H3,PACSIN3 chr1 147131080 147133277 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACP6 chr1 147131218 147131799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACP6 chr1 147132827 148021019 LOH Normal High-resolution SNP genotyping 21211785 ACP6,FLJ39739,GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF14,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr1 147134175 147499105 Deletion Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 ACP6,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147134204 147499075 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ACP6,GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147136069 147219520 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACP6 chr1 147136069 148086185 LOH Normal High-resolution SNP genotyping 21211785 ACP6,FLJ39739,GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF14,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr1 147137550 147788457 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147141055 147747971 Copy number loss Normal High-resolution SNP genotyping 21211785 ACP6,GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147141055 148038138 LOH Normal High-resolution SNP genotyping 21211785 ACP6,FLJ39739,GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF14,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr11 47142430 47154995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf49 chr11 47142430 47154995 Gain and loss Pancreatic cancer SNP array 17952125 C11orf49 chr11 47142430 47154995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf49 chr1 147149660 147259257 Gain and loss Pancreatic cancer SNP array 17952125 GJA5 chr11 47151413 47151513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf49 chr11 47155659 47164534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf49 chr11 47155659 47164534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf49 chr11 47155665 47164553 Gain and loss Pancreatic cancer SNP array 17952125 C11orf49 chr1 147165850 148021019 LOH Normal High-resolution SNP genotyping 21211785 FLJ39739,GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF14,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr1 147167239 147169537 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147167239 147169537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147169586 147170211 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147169586 147170211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147171089 147182764 Gain Normal TaqMan assays 20972442 NOT_FOUND chr1 147173241 147203624 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 147173894 147495710 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147173894 147572692 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147173894 147689083 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr11 47178777 47178867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf49 chr1 147179897 147180006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147182801 147472058 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147182801 147545083 Duplication Normal Affymetrix 6.0 microarrays 20967226 GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147182801 147572680 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147182801 147640153 Duplication Normal Affymetrix 6.0 microarrays 20967226 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147182801 147703454 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147182801 147788452 Duplication Normal Affymetrix 6.0 microarrays 20967226 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147182865 147958383 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 FLJ39739,GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr1 147187576 147884112 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA5,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF24,PDZK1P1 chr1 147188028 147703466 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr11 47191894 48005596 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,ARFGAP2,C1QTNF4,CELF1,DDB2,FAM180B,FNBP4,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1 chr11 47191894 49457313 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,ARFGAP2,C1QTNF4,CELF1,DDB2,FAM180B,FNBP4,FOLH1,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM49B,TRIM51GP,TRIM64C chr11 47191894 50457295 LOH Normal High-resolution SNP genotyping 21211785 ACP2,AGBL2,ARFGAP2,C1QTNF4,CELF1,DDB2,FAM180B,FNBP4,FOLH1,KBTBD4,LOC440040,LOC441601,LOC646813,MADD,MTCH2,MYBPC3,NDUFS3,NR1H3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PACSIN3,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM49B,TRIM51GP,TRIM64C chr11 47193068 47217345 Gain or loss Breast cancer - 20668451 ARFGAP2,PACSIN3 chr11 47193068 47217345 Gain or loss Cancer - 20668451 ARFGAP2,PACSIN3 chr11 47193068 47217345 Gain or loss Lung cancer - 20668451 ARFGAP2,PACSIN3 chr11 47193068 47217345 Gain or loss Ovarian cancer - 20668451 ARFGAP2,PACSIN3 chr11 47193068 47217345 Gain or loss Pancreas cancer - 20668451 ARFGAP2,PACSIN3 chr11 47193068 47217345 Gain or loss Prostate cancer - 20668451 ARFGAP2,PACSIN3 chr11 47193089 47217339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARFGAP2,PACSIN3 chr11 47193089 47217339 Gain and loss Pancreatic cancer SNP array 17952125 ARFGAP2,PACSIN3 chr11 47193089 47217339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARFGAP2,PACSIN3 chr1 147194909 147218219 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 147194940 147218213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147194940 147218213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147195001 147199500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 147199410 147199992 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147199501 147299000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GJA5 chr1 147200000 149200000 Ampfication Melanoma FISH 21430779 FLJ39739,GJA5,GJA8,GPR89B,GPR89C,LOC645166,MIR5087,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B,PPIAL4D,PPIAL4E,PPIAL4F chr11 47200973 47225076 Amplification or deletion Cancer Array CGH 17440070 PACSIN3 chr1 147203277 147644831 Deletion Cancer ultra-high resolution array CGH 21272361 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147203624 147220620 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 47203808 47203908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PACSIN3 chr1 147209137 147209493 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147211008 147211078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 147214322 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA5,GJA8,GPR89B,GPR89C chr1 147214322 147572680 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr11 47217429 47226939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47217429 47226939 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47217429 47226939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147219520 147747971 Copy number loss Normal High-resolution SNP genotyping 21211785 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147219520 147747971 LOH Normal High-resolution SNP genotyping 21211785 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147220608 147572680 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA5,GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147220620 147291426 Loss Normal Birdsuite, version 1.5.2 22087296 GJA5 chr1 147220723 147747971 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147220723 147747971 Copy number loss Normal High-resolution SNP genotyping 21211785 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147220723 147747971 LOH Normal High-resolution SNP genotyping 21211785 GJA5,GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr11 47227043 47246972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDB2 chr11 47227043 47246972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDB2 chr11 47236106 47246972 Gain and loss Pancreatic cancer SNP array 17952125 DDB2 chr11 47247535 47308158 Gain and loss Pancreatic cancer SNP array 17952125 ACP2,DDB2,MADD,NR1H3 chr11 47247535 47314521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACP2,DDB2,MADD,NR1H3 chr11 47247535 47314521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACP2,DDB2,MADD,NR1H3 chr11 47247774 47308158 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ACP2,DDB2,MADD,NR1H3 chr1 147272963 147292820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47283501 47284500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NR1H3 chr1 147291426 147303147 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 147292171 147305196 Gain Normal TaqMan assays 20972442 NOT_FOUND chr1 147293611 147299103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147299001 147302500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 147300034 147726239 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147302501 147412500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GJA8,GPR89B chr1 147303099 147313698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147303136 147418132 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B chr1 147303136 147419014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B chr1 147303136 147456930 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147303136 147456930 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147303136 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr1 147303136 147469357 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147469357 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147469357 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147469490 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147469490 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147472058 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147475972 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147496455 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147496455 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147515339 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147516059 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147516059 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147521544 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147521544 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147521544 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147526028 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147526028 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147572680 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147572680 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147303136 147689071 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147303136 147703454 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147303136 147703454 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147303136 147703454 Duplication Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147303136 147703454 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147303136 148068045 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ39739,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF14,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr1 147303147 147303148 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 147303148 147526040 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147305605 147313698 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147305744 147427061 Copy number Neuroblastoma 550K SNP array 19536264 GJA8,GPR89B,GPR89C chr1 147306435 159745095 Substitutions and indels small cell lung cancer array-CGH 20016488 ADAM15,ADAMTSL4,ADAR,AIM2,ANP32E,ANXA9,APCS,APH1A,APOA1BP,AQP10,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCAN,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,CDC42SE1,CELF3,CERS2,CGN,CHRNB2,CHTOP,CKS1B,CLK2,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,FAM189B,FAM63A,FAM91A2,FCER1A,FCGR1A,FCGR1C,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FDPS,FLAD1,FLG,FLG2,FLJ39739,GABPB2,GATAD2B,GBA,GBAP1,GJA8,GOLPH3L,GON4L,GPATCH4,GPR89B,GPR89C,HAPLN2,HAX1,HCN3,HDGF,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,IFI16,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,IVL,JTB,KCNN3,KIAA0907,KIRREL,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINGO4,LMNA,LOC100131825,LOC100132111,LOC100505666,LOC388692,LOC645166,LOC646268,LOR,LRRC71,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR5087,MIR554,MIR555,MIR765,MIR9-1,MIR92B,MLLT11,MNDA,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NES,NPR1,NTRK1,NUP210L,OAZ3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBXIP1,PDZK1P1,PEAR1,PGLYRP3,PGLYRP4,PI4KB,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PRCC,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,PYHIN1,RAB13,RAB25,RFX5,RHBG,RIIAD1,RIT1,RORC,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D2A,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TTC24,TUFT1,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 147306690 147456930 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147306690 147456930 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147306690 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr1 147306690 147469490 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147306690 147521567 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147306690 147942929 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ39739,GJA8,GPR89B,GPR89C,MIR5087,NBPF11,NBPF24,PDZK1P1 chr1 147308334 147418132 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B chr1 147308334 147419014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B chr1 147308334 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr1 147308334 147469357 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147308334 147496455 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147308418 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr1 147308418 147469490 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147308475 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr1 147308490 147419014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B chr11 47309527 47330806 Gain and loss Pancreatic cancer SNP array 17952125 MADD chr11 47309533 47330829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MADD chr11 47309533 47330829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MADD chr1 147311699 147418132 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B chr1 147311699 147426057 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147311699 147456930 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147311699 147456930 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147313759 147496467 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147314918 147471034 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147314918 147496432 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147314918 147558223 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147315600 147495710 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147319609 147603260 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA8,GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147321901 147473700 Copy number Normal ReadDepth: A Parallel R Package 21305028 GJA8,GPR89B,GPR89C,PDZK1P1 chr11 47322679 49457313 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,FOLH1,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM49B,TRIM51GP,TRIM64C chr11 47326900 48057062 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1 chr11 47326900 50411150 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,FOLH1,KBTBD4,LOC440040,LOC441601,LOC646813,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM49B,TRIM51GP,TRIM64C chr11 47327678 49010620 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM51GP chr1 147328592 147456930 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147328592 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr1 147328592 147515324 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr11 47328899 48343870 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4B1,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1 chr11 47328899 49001090 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM51GP chr11 47328899 49010620 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM51GP chr11 47328899 50411150 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,FOLH1,KBTBD4,LOC440040,LOC441601,LOC646813,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM49B,TRIM51GP,TRIM64C chr1 147329439 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr1 147329439 147475191 Duplication Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C,PDZK1P1 chr1 147329451 147558223 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GJA8,GPR89B,GPR89C,PDZK1P1 chr11 47330395 49010620 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,KBTBD4,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM51GP chr11 47332984 47356703 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MADD,MYBPC3 chr11 47332985 47356703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MADD,MYBPC3 chr11 47332985 47356703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MADD,MYBPC3 chr11 47332988 47356674 Gain and loss Pancreatic cancer SNP array 17952125 MADD,MYBPC3 chr1 147333761 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr1 147333761 147526028 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C,PDZK1P1 chr11 47334067 47335202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MADD chr1 147334958 147346481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147335724 147456930 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr11 47339834 50411150 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,FOLH1,KBTBD4,LOC440040,LOC441601,LOC646813,MADD,MTCH2,MYBPC3,NDUFS3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,SPI1,TRIM49B,TRIM51GP,TRIM64C chr11 4734451 4734603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4734452 4734603 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4734453 4734604 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147345988 147346059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147349249 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJA8,GPR89B,GPR89C chr11 47350214 47352799 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MADD chr11 47350830 47394618 Gain and loss Pancreatic cancer SNP array 17952125 MADD,MYBPC3,SPI1 chr1 147352111 147352409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147352797 147456930 Deletion Normal Affymetrix 6.0 microarrays 20967226 GJA8,GPR89B,GPR89C chr1 147354520 147354818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147356499 147396926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GJA8 chr1 147360110 147365209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147368973 147369073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 47379080 47379157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPI1 chr1 147381279 147381812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GJA8 chr1 147386087 147386156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47386758 47394620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPI1 chr11 47386758 47394620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPI1 chr1 147389596 147389746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 147390497 147811996 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR89B,GPR89C,MIR5087,NBPF11,NBPF24,PDZK1P1 chr1 147393146 147393224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147394041 147394172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147394099 147394172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47396896 47404565 Gain and loss Pancreatic cancer SNP array 17952125 SPI1 chr11 47396896 47404600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPI1 chr11 47396896 47404600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPI1 chr11 47397572 47397667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPI1 chr1 147404137 147421972 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GPR89B chr11 474042 626401 Loss Barrett's syndrome BAC array 19417022 C11orf35,CDHR5,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,PTDSS2,RASSF7,RNH1,SCT chr1 147407677 147415171 Gain and loss Pancreatic cancer SNP array 17952125 GPR89B chr1 147409434 147558211 Duplication Normal Affymetrix 6.0 microarrays 20967226 GPR89B,GPR89C,PDZK1P1 chr1 147412501 147416000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR89B chr1 147413338 147413503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR89B chr1 147414549 147414619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR89B chr11 47414686 47414751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 47415884 47427306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47415884 47427306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47415884 47427306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147416001 147469000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR89B,GPR89C,PDZK1P1 chr11 47418133 47418193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47418133 47418193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147418776 147471661 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPR89B,GPR89C,PDZK1P1 chr1 147418776 147958358 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ39739,GPR89B,GPR89C,MIR5087,NBPF11,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr1 147425953 147456930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPR89B,GPR89C chr1 147425953 147703454 Deletion Normal Affymetrix 6.0 microarrays 20967226 GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147426057 147788452 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 chr1 147428252 147428323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR89B,GPR89C chr11 47431346 50182047 LOH Normal High-resolution SNP genotyping 21211785 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,FOLH1,KBTBD4,LOC440040,MTCH2,NDUFS3,NUP160,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PSMC3,PTPMT1,PTPRJ,RAPSN,SLC39A13,TRIM49B,TRIM51GP,TRIM64C chr1 147431779 147482706 Gain and loss Pancreatic cancer SNP array 17952125 GPR89B,GPR89C,PDZK1P1 chr11 47432016 47432138 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A13 chr11 47432016 47432138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A13 chr1 147436922 147436993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR89B,GPR89C chr1 147440535 147440605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR89B,GPR89C chr11 47444274 47531264 Gain and loss Pancreatic cancer SNP array 17952125 CELF1,PSMC3,RAPSN chr11 47446522 47531264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELF1,PSMC3,RAPSN chr11 47446522 47531264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF1,PSMC3,RAPSN chr11 4745076 4970235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51A4,OR51A7,OR51F1,OR51F2,OR51G1,OR51G2,OR51S1,OR51T1,OR52R1 chr11 4745076 4970235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51A4,OR51A7,OR51F1,OR51F2,OR51G1,OR51G2,OR51S1,OR51T1,OR52R1 chr1 14745841 14745941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 147460730 147460893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR89B,GPR89C chr11 47464111 47464179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAPSN chr11 4746785 4747744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4746785 4747744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147469167 147969147 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ39739,MIR5087,NBPF11,NBPF24,PDZK1P1,PPIAL4A,PPIAL4B chr11 4746926 4747723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147471661 147496455 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PDZK1P1 chr1 147472027 147509275 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PDZK1P1 chr1 147473701 150712100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTSL4,ANP32E,APH1A,BOLA1,C1orf51,C1orf54,CA14,CTSS,ECM1,ENSA,FAM91A2,FCGR1A,FCGR1C,FLJ39739,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,LINC00568,LINC00623,LOC388692,LOC645166,MCL1,MIR4257,MIR5087,MRPS21,MTMR11,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,OTUD7B,PDZK1P1,PLEKHO1,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PRPF3,RPRD2,SF3B4,SV2A,TARS2,VPS45 chr1 147478572 147478645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDZK1P1 chr11 47479616 49590709 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AGBL2,C1QTNF4,CELF1,FAM180B,FNBP4,FOLH1,KBTBD4,LOC440040,MTCH2,NDUFS3,NUP160,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPMT1,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 147483615 147506425 Gain and loss Pancreatic cancer SNP array 17952125 PDZK1P1 chr1 147487415 147487521 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147490682 147490845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147495710 147703454 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NBPF11,NBPF24 chr1 147496116 147496530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 147496136 147496549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 147509275 147521544 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 147509275 147640153 Duplication Normal Affymetrix 6.0 microarrays 20967226 NBPF11,NBPF24 chr1 147509337 147521544 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 47510101 47510185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF1 chr1 147515624 147551378 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147516059 147703454 Deletion Normal Affymetrix 6.0 microarrays 20967226 NBPF11,NBPF24 chr11 47518140 47562832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CELF1 chr1 147526040 147540169 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 147528161 147530353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47535663 47535961 Gain and loss Pancreatic cancer SNP array 17952125 CELF1 chr11 47535664 47535961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr1 147540169 147546464 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 47540437 47540506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF1 chr11 47543464 47562689 Gain and loss Pancreatic cancer SNP array 17952125 CELF1 chr11 47543751 47549942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr1 147545409 147545481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147546464 147695830 Loss Normal Birdsuite, version 1.5.2 22087296 NBPF11,NBPF24 chr1 147550108 147550158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 47550326 47557094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr11 47550326 47557094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr11 47550326 47557101 Gain and loss Pancreatic cancer SNP array 17952125 CELF1 chr1 147552949 147553320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147553983 147554054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47554598 47554716 Gain and loss Pancreatic cancer SNP array 17952125 CELF1 chr11 47554599 47554716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr11 47554616 47554714 Gain and loss Pancreatic cancer SNP array 17952125 CELF1 chr11 47557207 47562690 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CELF1 chr11 47557208 47562689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr11 47557208 47562689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr11 47564821 47567322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr11 47564821 47567322 Gain and loss Pancreatic cancer SNP array 17952125 CELF1 chr11 47564821 47567322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr11 47567792 47572479 Gain and loss Pancreatic cancer SNP array 17952125 CELF1 chr11 47567792 47572537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr11 47567792 47572537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF1 chr1 147568407 147613858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NBPF11,NBPF24 chr11 47574515 47574573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF1 chr1 147577272 147591508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NBPF11,NBPF24 chr1 147581760 147593885 Gain and loss Pancreatic cancer SNP array 17952125 NBPF11,NBPF24 chr1 147589955 147590046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF11,NBPF24 chr11 4759098 4759408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 47593026 47593122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPMT1 chr11 47593027 47593122 Gain and loss Pancreatic cancer SNP array 17952125 PTPMT1 chr11 47593028 47593122 Gain and loss Pancreatic cancer SNP array 17952125 PTPMT1 chr1 147595259 147662259 Gain and loss Pancreatic cancer SNP array 17952125 NBPF11,NBPF24 chr11 47595444 47620640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF4,FAM180B,KBTBD4,NDUFS3 chr11 47595444 47620640 Gain and loss Pancreatic cancer SNP array 17952125 C1QTNF4,FAM180B,KBTBD4,NDUFS3 chr11 47595444 47620640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF4,FAM180B,KBTBD4,NDUFS3 chr1 147595539 147599366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NBPF11,NBPF24 chr1 147595556 147599383 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NBPF11,NBPF24 chr1 147595672 147880205 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 MIR5087,NBPF11,NBPF24 chr1 147598143 147598247 Gain and loss Pancreatic cancer SNP array 17952125 NBPF11,NBPF24 chr1 147598144 147598247 Gain and loss Pancreatic cancer SNP array 17952125 NBPF11,NBPF24 chr11 47600951 47641589 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1QTNF4,FAM180B,MTCH2,NDUFS3 chr11 4760556 4866960 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 OR51F1,OR51F2,OR52R1 chr1 147607282 147607690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF11,NBPF24 chr11 47609019 47623008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF4,FAM180B chr11 47609112 47629245 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF4,FAM180B chr11 47610299 47638236 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF4,FAM180B chr11 47614356 47628018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF4 chr11 47614401 47625356 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF4 chr1 14761492 14761592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 47616170 47616251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 476240 476340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTDSS2 chr11 4762498 4866948 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 OR51F1,OR51F2,OR52R1 chr1 147635968 147644763 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147635968 147644763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47637718 47692878 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 AGBL2,MTCH2 chr11 47637721 47692878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL2,MTCH2 chr11 47637721 47692878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL2,MTCH2 chr11 47637721 47693480 Gain and loss Pancreatic cancer SNP array 17952125 AGBL2,MTCH2 chr1 147640501 147914500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ39739,MIR5087 chr11 4764560 4765444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4764560 4765496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147647 147749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147647 147750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147648246 147692942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 147665423 147665626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147665501 147667166 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147665501 147667166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4766646 4766746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 147668014 147668084 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147689445 147689762 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147691189 147691578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47694646 47745569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL2,FNBP4 chr11 47694646 47745569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL2,FNBP4 chr11 47694648 47745605 Gain and loss Pancreatic cancer SNP array 17952125 AGBL2,FNBP4 chr1 147695818 147958358 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ39739,MIR5087,PPIAL4A,PPIAL4B chr1 147695830 147703466 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 147703455 147884062 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 MIR5087 chr1 147703466 147788470 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 47705022 47705120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL2 chr11 47705023 47705120 Gain and loss Pancreatic cancer SNP array 17952125 AGBL2 chr11 47705024 47705120 Gain and loss Pancreatic cancer SNP array 17952125 AGBL2 chr1 147711961 147750278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4771584 4773090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47716901 47721000 Deletion Glioma mate-paired sequence 20126413 AGBL2 chr1 147717079 147726172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147717581 147726172 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147747971 149267695 LOH Normal High-resolution SNP genotyping 21211785 FLJ39739,LOC645166,MIR5087,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4D,PPIAL4E,PPIAL4F chr1 147750735 147760392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47756245 47826633 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 FNBP4,NUP160 chr11 47756246 47826633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNBP4,NUP160 chr11 47756246 47826633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNBP4,NUP160 chr11 47757233 47826457 Gain and loss Pancreatic cancer SNP array 17952125 FNBP4,NUP160 chr11 47758058 47758158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNBP4 chr11 47762439 47762533 Gain and loss Pancreatic cancer SNP array 17952125 FNBP4 chr11 47762448 47762533 Gain and loss Pancreatic cancer SNP array 17952125 FNBP4 chr1 147767627 147781180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147777596 147882589 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 MIR5087 chr1 147779947 149267695 LOH Normal High-resolution SNP genotyping 21211785 FLJ39739,LOC645166,MIR5087,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4D,PPIAL4E,PPIAL4F chr1 147780714 147780880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147781639 147793298 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47782420 47782529 Gain and loss Pancreatic cancer SNP array 17952125 FNBP4 chr11 47782420 47782529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNBP4 chr1 147794026 147821262 Gain and loss Pancreatic cancer SNP array 17952125 MIR5087 chr11 47798337 47798420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47798337 47798420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 478050 478119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTDSS2 chr1 147808299 147808401 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147808300 147808401 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4781239 4783845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4781239 4783845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4781281 4818221 Gain and loss Pancreatic cancer SNP array 17952125 OR51F1 chr11 47814027 47861744 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NUP160 chr1 147819281 147823134 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147819627 147820286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147819627 147820286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147822119 147833133 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47831839 47833610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NUP160 chr1 147833397 147854042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47836545 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,NUP160,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 147837663 147845160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147843073 149267695 LOH Normal High-resolution SNP genotyping 21211785 FLJ39739,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4D,PPIAL4E,PPIAL4F chr11 47844244 47844769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NUP160 chr11 47845449 47872847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUP160 chr1 147856153 147905469 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47864486 47897449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUP160 chr11 47865563 47873175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUP160 chr1 147872541 147872703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147883270 147893269 Loss Normal TaqMan assays 20972442 NOT_FOUND chr11 47887277 50951547 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr11 47887277 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr11 47892817 51176074 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr11 47892817 51200170 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 147893562 147905665 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr11 47895671 47940857 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 147915573 147915950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ39739 chr1 147915573 147915950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ39739 chr1 147917240 147932177 Gain and loss Pancreatic cancer SNP array 17952125 FLJ39739 chr11 47929593 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 147931201 147931513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ39739 chr1 147939529 147939600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47941975 47942075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 147942198 147945298 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147942694 147943203 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 147942694 147943203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147945298 147951409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 47945338 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 147946834 147946904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147951605 147955846 Gain and loss Pancreatic cancer SNP array 17952125 PPIAL4A,PPIAL4B chr11 47952479 47963842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 147955536 147961565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147955992 147956478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47958685 48148970 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 PTPRJ chr11 47958685 48148970 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 PTPRJ chr11 47958686 48148969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRJ chr11 47958686 48148969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRJ chr11 47958689 48146246 Gain and loss Pancreatic cancer SNP array 17952125 PTPRJ chr1 147962007 147975713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147964875 159663147 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ADAM15,ADAMTSL4,ADAR,AIM2,ANP32E,ANXA9,APCS,APH1A,APOA1BP,AQP10,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATP8B2,BCAN,BGLAP,BNIPL,BOLA1,C1orf189,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,CDC42SE1,CELF3,CERS2,CGN,CHRNB2,CHTOP,CKS1B,CLK2,CRABP2,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCST1,DCST2,DENND4B,DPM3,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,FAM189B,FAM63A,FAM91A2,FCER1A,FCGR1A,FCGR1C,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FDPS,FLAD1,FLG,FLG2,GABPB2,GATAD2B,GBA,GBAP1,GOLPH3L,GON4L,GPATCH4,HAPLN2,HAX1,HCN3,HDGF,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,IFI16,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,IVL,JTB,KCNN3,KIAA0907,KIRREL,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINGO4,LMNA,LOC100131825,LOC100132111,LOC100505666,LOC388692,LOC645166,LOC646268,LOR,LRRC71,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR554,MIR555,MIR765,MIR9-1,MIR92B,MLLT11,MNDA,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NBPF14,NBPF15,NBPF16,NES,NPR1,NTRK1,NUP210L,OAZ3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBXIP1,PEAR1,PGLYRP3,PGLYRP4,PI4KB,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PRCC,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,PYHIN1,RAB13,RAB25,RFX5,RHBG,RIIAD1,RIT1,RORC,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D2A,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SSR2,SV2A,SYT11,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TTC24,TUFT1,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS45,VPS72,YY1AP1,ZBTB7B,ZNF687 chr11 47966797 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr11 47969152 55683985 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 FOLH1,LOC440040,LOC441601,LOC646813,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2,OR5W2,PTPRJ,TRIM48,TRIM49B,TRIM51,TRIM51GP,TRIM51HP,TRIM64C chr11 47972532 51051634 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 147975484 147975575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 14797787 15317130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAZN chr1 14797787 15317130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAZN chr1 147981074 147984910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 147984102 148035079 Gain and loss Pancreatic cancer SNP array 17952125 NBPF14 chr11 4799192 4800220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4799192 4800220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4799228 4800220 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 147992479 147992884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 147994895 147994965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 47997919 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 148000000 149600000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F chr1 148000000 149600000 Amplification Lung cancer aCGH 21911935 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F chr1 148000000 149600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F chr1 148000000 149600000 Copy number Congenital heart defect - 20186050 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F chr1 148000000 149600000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F chr1 148000000 149600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F chr1 148000000 149600000 Gain Lung cancer Array CGH 17925434 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F chr1 148000000 149600000 Gain Ovarian cancer Affymetrix 20844748 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F chr1 148000000 153300000 Gain Malignant fibrous histiocytomas aCGH 21085701 ADAMTSL4,ANP32E,ANXA9,APH1A,ARNT,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CDC42SE1,CELF3,CERS2,CGN,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM91A2,FCGR1A,FCGR1C,FLG,FLG2,GABPB2,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINC00568,LINC00623,LINGO4,LOC100132111,LOC388692,LOC645166,LOR,LYSMD1,MCL1,MIR4257,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,NBPF14,NBPF15,NBPF16,OAZ3,OTUD7B,PGLYRP3,PI4KB,PIP5K1A,PLEKHO1,POGZ,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,RFX5,RIIAD1,RORC,RPRD2,RPTN,S100A10,S100A11,SCNM1,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,VPS45,VPS72,ZNF687 chr1 148000899 148065680 Amplification Lung cancer Array CGH 17440070 NBPF14 chr1 148000899 148065680 Deletion Cancer Array CGH 17440070 NBPF14 chr11 48011370 48072413 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 PTPRJ chr11 48011453 50182047 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 148015452 150708172 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAMTSL4,ANP32E,APH1A,BOLA1,C1orf51,C1orf54,CA14,CTSS,ECM1,ENSA,FAM91A2,FCGR1A,FCGR1C,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,LINC00568,LINC00623,LOC388692,LOC645166,MCL1,MIR4257,MRPS21,MTMR11,NBPF14,NBPF15,NBPF16,OTUD7B,PLEKHO1,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PRPF3,RPRD2,SF3B4,SV2A,TARS2,VPS45 chr1 148020868 148050552 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NBPF14 chr1 148020873 148030698 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NBPF14 chr1 148020912 148030695 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF14 chr1 148020912 148030695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF14 chr1 148020912 148030695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF14 chr1 148030714 148031388 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 4803384 4836590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR52R1 chr1 148040270 148053009 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148049907 148050538 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148049907 148050538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148049907 148050538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148050063 148051860 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148050063 148051860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148050063 148051860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48064625 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 148067861 148077453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148070845 148077963 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148070856 148077963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48076638 48076946 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRJ chr1 148077486 148113264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148077734 148079389 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148077734 148079389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148080129 148081102 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148080129 148081102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148080129 148081102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148080395 148124826 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148080395 148124826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148080395 148124826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148081230 148081602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148084197 148115032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 148086214 148086512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148086214 148086513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148088286 149154002 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 LOC645166,NBPF15,NBPF16,PPIAL4D,PPIAL4E,PPIAL4F chr1 148088590 148088964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148089267 148089815 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148089267 148089815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148089267 148089815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148090805 148091311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148090805 148092460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148090805 148092460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148092231 148099338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148092231 148099338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148092231 148099338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4809411 4809511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 48098886 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr11 4809975 4810860 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4809975 4810860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1481001 1523000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SSU72 chr11 48105714 49567352 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr11 48111842 51449216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr11 48122070 49567352 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 148125110 148138968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148125110 148138968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148125110 148138971 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148125148 148125585 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 148125149 148125585 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148125149 148125585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148125149 148125585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148125698 148126090 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148125698 148126090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148125698 148126090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148126190 148132773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48134155 48134255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRJ chr1 148137824 148138969 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr11 48140272 50844806 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 148141500 148156058 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148141500 148156058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148141500 148156058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148149854 148158254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148158305 148158645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 48161000 49658000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 FOLH1,LOC440040,OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ,TRIM49B,TRIM51GP,TRIM64C chr1 148161834 148166860 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148161834 148166860 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr1 148161835 148166326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148161835 148166326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 481643 481866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTDSS2 chr1 148167168 148176876 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148167168 148176876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148167168 148176876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148174210 148174210 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr1 148178855 148249310 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPIAL4D,PPIAL4F chr1 148178855 148249310 Gain or loss Breast cancer - 20668451 PPIAL4D,PPIAL4F chr1 148178855 148249310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIAL4D,PPIAL4F chr1 148178855 148249310 Gain or loss Cancer - 20668451 PPIAL4D,PPIAL4F chr1 148178855 148249310 Gain or loss Lung cancer - 20668451 PPIAL4D,PPIAL4F chr1 148178855 148249310 Gain or loss Ovarian cancer - 20668451 PPIAL4D,PPIAL4F chr1 148178855 148249310 Gain or loss Pancreas cancer - 20668451 PPIAL4D,PPIAL4F chr1 148178855 148249310 Gain or loss Prostate cancer - 20668451 PPIAL4D,PPIAL4F chr1 148185115 148187487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148188273 148245014 Gain and loss Pancreatic cancer SNP array 17952125 PPIAL4D,PPIAL4F chr11 48194938 48195867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48194938 48195867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48194938 48195867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48195290 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4B1,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,TRIM49B,TRIM51GP,TRIM64C chr11 48223232 48224143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48223232 48224143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48223232 48224143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148224549 148224642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148224549 148224643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148231331 148264913 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 48241989 48242906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48241989 48242906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48241989 48242906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148256282 148256554 Amplification Lung cancer Array CGH 17440070 NOT_FOUND chr1 148256282 148256554 Deletion Cancer Array CGH 17440070 NOT_FOUND chr11 48260247 48820182 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4A47,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2 chr11 4826043 4827014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4826043 4827014 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4826043 4827014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48264352 48287276 Gain Normal Quantitative PCR 18989455 OR4X1,OR4X2 chr11 48284104 48284816 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 48284248 48284754 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 48284286 48284573 Loss Normal 244K array 17666407 NOT_FOUND chr11 48284351 48285280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48284351 48285280 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48284351 48285280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48286506 51449216 Copy number loss Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4C12,OR4C13,OR4C3,OR4C45,OR4S1,TRIM49B,TRIM51GP,TRIM64C chr11 48291631 49567352 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,OR4A47,OR4C3,OR4C45,OR4S1,TRIM49B,TRIM51GP,TRIM64C chr1 148292470 148293640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148292470 148293640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48296501 48345500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR4S1 chr1 148296946 148324238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48302784 48337941 Copy number Lung cancer paired-end sequencing 18438408 OR4S1 chr11 48302816 49567352 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,OR4A47,OR4C3,OR4C45,OR4S1,TRIM49B,TRIM51GP,TRIM64C chr11 48303069 48345241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR4S1 chr11 48303069 48345241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR4S1 chr11 48303150 48304058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48304178 48304365 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 148304467 148304522 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 148305965 148384129 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 148305966 148384129 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148305966 148384129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148305966 148384129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148307246 148307430 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr11 48308207 48308707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 48311144 48311496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 148313381 148313504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148313384 148313480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148313654 148313834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 48319458 48348830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4C3,OR4S1 chr11 4832014 4865620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR51F2 chr11 48320794 48320964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 48322001 48332100 Deletion Glioma mate-paired sequence 20126413 OR4S1 chr11 48323476 48330575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR4S1 chr11 48323500 48324058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48324089 48330269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OR4S1 chr1 148325854 148369131 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48330335 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A47,OR4A5,OR4C12,OR4C13,OR4C3,OR4C45,TRIM49B,TRIM51GP,TRIM64C chr1 148342995 148343465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48343613 48344593 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48343613 48344593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48343870 48344391 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 48343870 48344391 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 48344391 49010620 LOH Normal High-resolution SNP genotyping 21211785 OR4A47,OR4C3,OR4C45,TRIM51GP chr11 48351432 48924483 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 OR4A47,OR4C45 chr11 48354063 49729971 Substitutions and indels small cell lung cancer array-CGH 20016488 FOLH1,LOC440040,OR4A47,OR4C45,TRIM49B,TRIM51GP,TRIM64C chr11 48358818 49633448 Copy number Lung cancer paired-end sequencing 18438408 FOLH1,LOC440040,OR4A47,OR4C45,TRIM49B,TRIM51GP,TRIM64C chr11 4837462 4838370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4837462 4838370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148387997 148398449 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148387997 148398449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148387997 148398449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148397735 148484624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48398372 48399007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48398372 48399302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48410642 48411275 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48410642 48411275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148413142 148457782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 148414873 148414979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48435001 48436000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48442202 48443105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148450554 148450845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 484513 497273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTDSS2,RNH1 chr11 484513 497273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTDSS2,RNH1 chr1 148457479 148475084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148457479 148475084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148457479 148475130 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 48466921 48467820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48466921 48467880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48466921 48467880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48470471 49128434 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A47,TRIM49B,TRIM51GP,TRIM64C chr11 48474476 48475383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148475939 148476128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4848188 4848277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 148487954 148502363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48489030 48565906 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 OR4A47 chr1 148495982 148515143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148496793 148504085 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148496793 148504085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148496793 148504085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148500717 148500818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148502512 148508156 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148502512 148508156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148502512 148508156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148507224 148519951 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148507224 148519951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148507224 148519951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148521577 148526129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148521577 148526129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148521577 148548038 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148532893 148547443 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148532893 148548038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148532909 148547410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148532909 148547410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148533146 148533249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148540272 148550873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148540272 148550873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4854363 4855267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4854363 4855267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148545110 148547402 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148545198 148549113 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148545318 148545681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148552204 148556878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4855367 4855453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 48555401 48562800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 148557119 148576071 Gain and loss Pancreatic cancer SNP array 17952125 NBPF15 chr11 48557432 48560877 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 48557433 48560858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 48557501 48560500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48557564 48558461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48557564 48558473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148560626 148592277 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF15,NBPF16 chr1 148560642 148592292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF15,NBPF16 chr1 148560642 148592292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF15,NBPF16 chr11 48565907 48565907 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 148585838 148590955 Gain and loss Pancreatic cancer SNP array 17952125 NBPF15,NBPF16 chr1 148591622 148617421 Gain and loss Pancreatic cancer SNP array 17952125 NBPF15,NBPF16 chr11 4859625 4860689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4859625 4860689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4859706 4860689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148603211 148712656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPIAL4E chr1 148603211 148712656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIAL4E chr1 148603211 148715666 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPIAL4E chr1 148627287 148627386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148627288 148627386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48628001 48656500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48631508 48681011 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 148632920 148639114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48636771 48636981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 4864469 5091907 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MMP26,OR51A2,OR51A4,OR51A7,OR51G1,OR51G2,OR51L1,OR51S1,OR51T1,OR52E2,OR52J3 chr1 1486454 1486543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSU72 chr1 148646436 149486905 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 FCGR1C,HIST2H2BF,LOC388692,LOC645166,NBPF16,PPIAL4D,PPIAL4F chr11 48646579 48646747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 148648801 148652600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 148659606 148695052 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148661965 149063439 Amplification Cancer Affymetrix 250K Sty array 20164920 LOC645166,NBPF16,PPIAL4D,PPIAL4F chr11 48667001 48691000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48670622 48671649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 4867405 4868402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4867405 4868402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48675981 48693749 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr11 48675981 48909931 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr11 48675981 48909931 Gain Non-syndromic sensorineural hearing loss 610K 19587683 NOT_FOUND chr11 48678320 48763972 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 48690435 48852229 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr11 48691001 48693500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48693501 48707500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48718001 48742000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48722651 48886497 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 148726517 148746702 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF16 chr1 148726517 148746702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF16 chr1 148726517 148746702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF16 chr11 48731166 48735605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 148734360 149770263 LOH Normal High-resolution SNP genotyping 21211785 FAM91A2,FCGR1A,FCGR1C,HIST2H2BF,LINC00623,LOC388692,LOC645166,NBPF16,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4F chr11 48742001 48744000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48744001 48760500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 148747158 148752626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBPF16 chr1 148747158 148752626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF16 chr1 148747158 148752626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF16 chr1 148749543 148779454 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NBPF16 chr11 48753101 48930200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48760501 48778000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 148768466 148779381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4877074 4886069 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48778001 48779750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48779751 48784000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 48784001 48790500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 148784674 149806687 LOH Normal High-resolution SNP genotyping 21211785 FAM91A2,FCGR1A,FCGR1C,HIST2H2BF,HIST2H3D,HIST2H4A,HIST2H4B,LINC00623,LOC388692,LOC645166,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4F chr1 148788001 148801500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 148788508 148800037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148788508 148800037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148788521 148800036 Microdeletion Ectopia Lentis PCR 21051722 NOT_FOUND chr1 148788522 148800037 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 48790501 48811000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 148799302 148801215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148799302 148801215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148799302 148801215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48800000 51400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FOLH1,LOC440040,LOC441601,LOC646813,OR4C12,OR4C13,TRIM49B,TRIM51GP,TRIM64C chr11 48800000 51400000 Duplication Intellectual disability - 22045946 FOLH1,LOC440040,LOC441601,LOC646813,OR4C12,OR4C13,TRIM49B,TRIM51GP,TRIM64C chr1 148805664 148805960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48806924 49141766 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TRIM49B,TRIM51GP,TRIM64C chr1 148808071 148808369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148808073 148808369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48811001 48857500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 148813658 148818760 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 148813661 148818760 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148813661 148818760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148813661 148818760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148818055 148822584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148839638 148839707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148840214 148868722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148840214 148868722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148840214 148868722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48843099 48849795 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 148846697 148846775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4885176 4921932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51T1 chr11 4885176 4921932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51T1 chr1 148865133 148866131 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 148871218 148873692 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1488736 1489138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSU72 chr1 148873919 148906467 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 48878403 49028287 Gain and loss Pancreatic cancer SNP array 17952125 TRIM51GP chr11 48879811 48880047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48881992 49024200 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TRIM51GP chr1 148885329 148936257 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 LOC645166 chr1 148885330 148936257 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC645166 chr1 148885330 148936257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC645166 chr1 148885330 148936257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC645166 chr11 48885521 48885831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 48888001 48906000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 148892934 148899629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4889351 4990130 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR51A2,OR51A4,OR51A7,OR51G1,OR51G2,OR51T1 chr11 48899658 48911561 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr11 48900580 48901763 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr11 48909001 48920500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 14891212 14891696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48914434 48918367 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr11 48923822 49047435 Gain and loss Pancreatic cancer SNP array 17952125 TRIM51GP chr11 4892525 4893469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4892525 4893469 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4892525 4893469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148937160 148959976 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC645166 chr1 148937160 148959976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC645166 chr1 148937160 148959976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC645166 chr1 148939148 148941622 Gain and loss Pancreatic cancer SNP array 17952125 LOC645166 chr1 148940966 148941072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC645166 chr11 48944115 49173275 Loss small cell lung cancer Real-time Quantitative PCR 17426248 FOLH1,TRIM49B,TRIM51GP,TRIM64C chr11 48953626 48959823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 48953644 48959823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148958060 148958393 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 48962698 49484096 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-690K arrays 21546498 FOLH1,TRIM49B,TRIM51GP,TRIM64C chr1 148969175 149004929 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 148969175 149004929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 148969175 149004929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48972751 50017113 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,OR4C12,OR4C13,TRIM49B,TRIM51GP,TRIM64C chr1 148976596 149000568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 48988325 48992744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 48988325 49037225 Gain and loss Pancreatic cancer SNP array 17952125 TRIM51GP chr1 148991508 149000327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 148994815 149018663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 148996248 149000224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 148998625 149008802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 49006985 49016157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49006985 49016157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4901180 4902145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4901180 4902145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4901180 4902145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149019372 149019744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49023251 49025000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 49026402 49027920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 49027722 49028287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4902821 4936732 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR51A7,OR51G2,OR51T1 chr11 4902910 4935949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR51A7,OR51G2,OR51T1 chr11 49031860 49037240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49031860 49037240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149032752 149156966 Amplification Breast cancer Illumina high-density SNP arrays 18852474 NOT_FOUND chr1 14903286 14903341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 149035311 149047436 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149035311 149047436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149035311 149047436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149039573 149040125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149048809 149115810 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 149048809 149115810 Gain or loss Cancer - 20668451 NOT_FOUND chr1 149048809 149115810 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 149048809 149115810 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 149048809 149115810 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 149048809 149115810 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 149048810 149115815 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149048810 149115815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149048810 149115815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149051691 149051798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49072729 49077808 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TRIM64C chr11 49072877 49076217 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TRIM64C chr11 49072878 49076214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIM64C chr11 4907535 4954345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR51A7,OR51G1,OR51G2 chr11 49077132 51449216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A5,OR4C12,OR4C13,TRIM64C chr11 4907790 4907909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 49079040 49979308 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,OR4C13,TRIM64C chr11 49080494 49100669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRIM64C chr11 4908056 4908156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 49082195 49084220 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 4908808 4934258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR51A7 chr1 149089017 149101005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149115324 149637669 LOH Normal High-resolution SNP genotyping 21211785 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,PPIAL4A,PPIAL4B,PPIAL4C chr1 149120336 149120783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 14912036 14912453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149121551 149121635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49124762 49186798 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FOLH1 chr11 49124764 49186798 Gain and loss Pancreatic cancer SNP array 17952125 FOLH1 chr11 49124766 49186798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOLH1 chr11 49124766 49186798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOLH1 chr11 49125328 51051634 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4C12,OR4C13 chr11 49125328 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A5,OR4C12,OR4C13 chr1 149126888 149129434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 4912787 5013288 Copy number loss Normal High-resolution SNP genotyping 21211785 MMP26,OR51A2,OR51A4,OR51A7,OR51G1,OR51G2 chr1 149139929 149141090 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149142696 149144433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149142996 149143313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4915177 4916100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49154511 51449216 LOH Normal High-resolution SNP genotyping 21211785 FOLH1,LOC440040,LOC441601,LOC646813,OR4A5,OR4C12,OR4C13 chr11 4915812 4941949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR51A7,OR51G2 chr1 149165511 149203837 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 149165512 149203837 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149165512 149203837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149165512 149203837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49168813 49297907 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FOLH1 chr11 49168813 49425542 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FOLH1 chr1 149185125 149185422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149194792 149199812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149204272 149214064 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 149204273 149214064 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149204273 149214064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149204273 149214064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149221122 149234738 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 149221178 149234731 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149221178 149234731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149221178 149234731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149234173 149245957 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149234173 149245957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149234173 149245957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4923501 4934465 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OR51A7 chr11 4923637 4923679 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 4923679 4923952 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 4923945 4934804 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4923945 4934804 Copy number loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4923945 4934804 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4923945 4934804 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4923952 4924688 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 4923952 4933190 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4923965 4924906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4923965 4924906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4923972 4932281 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4923972 4933483 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4924207 4932830 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 OR51A7 chr11 4924215 4932820 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 OR51A7 chr11 4924226 4932965 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4924226 4933441 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4924226 4933454 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4924226 4933468 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4924227 4933455 Copy number Breast cancer Affymetrix SNP 6.1 22522925 OR51A7 chr11 4924359 4950544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR51A7,OR51G1,OR51G2 chr11 4924382 4933618 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 OR51A7 chr11 4924382 4933618 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 OR51A7 chr11 4924514 4932760 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4924514 4932760 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4924514 4934804 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4924514 4934804 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4924688 4924689 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 4924689 4924693 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 4924689 4933658 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OR51A7 chr11 4924693 4933390 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4924693 4933468 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4924693 4933658 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OR51A7 chr11 4924693 4947666 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR51A7,OR51G1,OR51G2 chr11 4924693 4949077 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR51A7,OR51G1,OR51G2 chr11 4924694 4933097 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 OR51A7 chr1 149247577 149274813 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149247577 149274813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149247577 149274813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149247596 149274813 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 1492476 1518495 Gain and loss Pancreatic cancer SNP array 17952125 SSU72 chr11 4924967 4932228 Loss or gain Normal 244K array 17666407 OR51A7 chr11 4925086 4933454 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4925143 4933182 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4925143 4933182 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4925143 4934804 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4925143 4934804 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr1 14925199 15393109 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 KAZN chr11 4925872 4934501 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 OR51A7 chr1 149261846 149261952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149267695 150813197 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANP32E,APH1A,ARNT,BOLA1,C1orf51,C1orf54,CA14,CTSK,CTSS,ECM1,ENSA,FAM91A2,FCGR1A,FCGR1C,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,LINC00568,LINC00623,LOC388692,MCL1,MIR4257,MRPS21,MTMR11,OTUD7B,PLEKHO1,PPIAL4A,PPIAL4B,PPIAL4C,PRPF3,RPRD2,SF3B4,SV2A,TARS2,VPS45 chr1 149267695 150822254 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANP32E,APH1A,ARNT,BOLA1,C1orf51,C1orf54,CA14,CTSK,CTSS,ECM1,ENSA,FAM91A2,FCGR1A,FCGR1C,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,LINC00568,LINC00623,LOC388692,MCL1,MIR4257,MRPS21,MTMR11,OTUD7B,PLEKHO1,PPIAL4A,PPIAL4B,PPIAL4C,PRPF3,RPRD2,SF3B4,SV2A,TARS2,VPS45 chr1 149267695 150823203 Copy number gain Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANP32E,APH1A,ARNT,BOLA1,C1orf51,C1orf54,CA14,CTSK,CTSS,ECM1,ENSA,FAM91A2,FCGR1A,FCGR1C,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,LINC00568,LINC00623,LOC388692,MCL1,MIR4257,MRPS21,MTMR11,OTUD7B,PLEKHO1,PPIAL4A,PPIAL4B,PPIAL4C,PRPF3,RPRD2,SF3B4,SV2A,TARS2,VPS45 chr11 4926894 4934958 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4926919 4932833 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR51A7 chr11 4927495 4934804 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr11 4927495 4934804 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR51A7 chr1 149275658 149288899 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC388692 chr1 149275658 149288899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC388692 chr1 149275658 149288899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388692 chr11 4928582 4933391 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 OR51A7 chr1 149285912 149400186 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FCGR1C,HIST2H2BF,LOC388692 chr1 149285912 149400186 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FCGR1C,HIST2H2BF,LOC388692 chr1 149285912 149503146 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FCGR1C,HIST2H2BF,LOC388692 chr1 149285912 149503146 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FCGR1C,HIST2H2BF,LOC388692 chr1 149285912 149711226 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,LOC388692,PPIAL4A,PPIAL4B,PPIAL4C chr1 149286840 149307593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388692 chr1 149286883 149307151 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC388692 chr1 149290073 149298749 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC388692 chr1 149290073 149298749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC388692 chr1 149290073 149298749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388692 chr1 149297084 149297440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149298503 149307593 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149298503 149307593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149298503 149307593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149300051 149301553 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149309704 149359020 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149309704 149359020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149309704 149359020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4931300 4943519 Loss Normal Quantitative PCR 18989455 OR51G2 chr11 4932578 4933519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4932578 4933519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 4933658 4934958 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 149345210 149410717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGR1C,HIST2H2BF chr1 149351012 149351828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149351479 149351757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149357091 149416049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGR1C,HIST2H2BF chr1 149358044 149414026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGR1C,HIST2H2BF chr1 149358715 149412808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGR1C,HIST2H2BF chr1 149363029 149421545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGR1C,HIST2H2BF chr1 149363342 149588599 Loss or gain Normal 244K array 17666407 FAM91A2,FCGR1C,HIST2H2BF,LINC00623,PPIAL4A,PPIAL4B,PPIAL4C chr1 149363398 149420863 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGR1C,HIST2H2BF chr1 149364934 149366053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149366205 149433517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGR1C,HIST2H2BF chr1 149366675 149423051 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGR1C,HIST2H2BF chr1 149370791 149385728 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FCGR1C chr1 149370791 149385728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCGR1C chr1 149370791 149385728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCGR1C chr11 49381658 49381992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 49383103 49393881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49383219 49393881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149386281 149386565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149395729 149398849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIST2H2BF chr1 149395729 149398849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIST2H2BF chr1 149395749 149398849 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIST2H2BF chr1 149398849 149404960 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIST2H2BF chr1 149398849 149404960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIST2H2BF chr1 149398849 149404960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIST2H2BF chr11 49398909 49399219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 149399337 149404960 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 149399360 149399647 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149405141 149408238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149405141 149408238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149405156 149409397 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 49406984 49407046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 149408383 149408652 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 49408635 49590709 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 LOC440040 chr1 149409087 149415116 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149409087 149415171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149409087 149415171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49411601 49412566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 49411601 49412566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149415557 149429264 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 149415562 149429290 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149415562 149429290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149415562 149429290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149437652 149488629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149437652 149488629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149437696 149488629 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149441026 149442339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149449655 149449987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149461565 149461897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149461918 149470612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 149471672 149472945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 49475000 49505000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr11 49483244 51297186 Copy number Normal - 20703242 LOC440040,LOC441601,LOC646813,OR4C12,OR4C13 chr1 149484451 149484771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149493809 149506579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149493809 149506579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149493820 149506578 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 149493821 149506579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149494625 149494924 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149505459 149505874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 4950749 4951690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49510000 49538154 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr1 149519124 149521029 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149520001 149532500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 149521412 149531004 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 149521412 149531004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149521412 149531004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149531037 149566815 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPIAL4A,PPIAL4B,PPIAL4C chr1 149531037 149566815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPIAL4A,PPIAL4B,PPIAL4C chr1 149531037 149566815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIAL4A,PPIAL4B,PPIAL4C chr1 149539767 149540063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49552571 50688479 LOH Normal High-resolution SNP genotyping 21211785 LOC440040,LOC441601,LOC646813,OR4C12,OR4C13 chr11 49552571 50951547 LOH Normal High-resolution SNP genotyping 21211785 LOC440040,LOC441601,LOC646813,OR4C12,OR4C13 chr11 49552571 50978600 LOH Normal High-resolution SNP genotyping 21211785 LOC440040,LOC441601,LOC646813,OR4C12,OR4C13 chr11 49552571 50980832 LOH Normal High-resolution SNP genotyping 21211785 LOC440040,LOC441601,LOC646813,OR4C12,OR4C13 chr11 49554374 49555039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49554374 49555039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149559508 149586671 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM91A2,LINC00623 chr1 149561921 149562277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149571826 149573972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149572225 149587487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM91A2,LINC00623 chr1 149579740 149586426 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM91A2,LINC00623 chr1 149579740 149586426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM91A2,LINC00623 chr1 149579740 149586426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM91A2,LINC00623 chr1 149583344 149583688 Gain and loss Pancreatic cancer SNP array 17952125 FAM91A2,LINC00623 chr1 149590671 149591027 Gain and loss Pancreatic cancer SNP array 17952125 FAM91A2,LINC00623 chr1 149597520 149598658 Gain and loss Pancreatic cancer SNP array 17952125 FAM91A2,LINC00623 chr1 149600000 153300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTSL4,ANP32E,ANXA9,APH1A,ARNT,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CDC42SE1,CELF3,CERS2,CGN,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM91A2,FCGR1A,FLG,FLG2,GABPB2,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINC00568,LINC00623,LINGO4,LOC100132111,LOR,LYSMD1,MCL1,MIR4257,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,OAZ3,OTUD7B,PGLYRP3,PI4KB,PIP5K1A,PLEKHO1,POGZ,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,RFX5,RIIAD1,RORC,RPRD2,RPTN,S100A10,S100A11,SCNM1,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,VPS45,VPS72,ZNF687 chr1 149600000 153300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTSL4,ANP32E,ANXA9,APH1A,ARNT,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CDC42SE1,CELF3,CERS2,CGN,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM91A2,FCGR1A,FLG,FLG2,GABPB2,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINC00568,LINC00623,LINGO4,LOC100132111,LOR,LYSMD1,MCL1,MIR4257,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,OAZ3,OTUD7B,PGLYRP3,PI4KB,PIP5K1A,PLEKHO1,POGZ,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,RFX5,RIIAD1,RORC,RPRD2,RPTN,S100A10,S100A11,SCNM1,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,VPS45,VPS72,ZNF687 chr1 149600000 153300000 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ADAMTSL4,ANP32E,ANXA9,APH1A,ARNT,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CDC42SE1,CELF3,CERS2,CGN,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM91A2,FCGR1A,FLG,FLG2,GABPB2,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINC00568,LINC00623,LINGO4,LOC100132111,LOR,LYSMD1,MCL1,MIR4257,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,OAZ3,OTUD7B,PGLYRP3,PI4KB,PIP5K1A,PLEKHO1,POGZ,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,RFX5,RIIAD1,RORC,RPRD2,RPTN,S100A10,S100A11,SCNM1,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,VPS45,VPS72,ZNF687 chr1 149600000 153300000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 ADAMTSL4,ANP32E,ANXA9,APH1A,ARNT,BNIPL,BOLA1,C1orf51,C1orf54,C1orf56,C1orf68,C2CD4D,CA14,CDC42SE1,CELF3,CERS2,CGN,CRCT1,CRNN,CTSK,CTSS,ECM1,ENSA,FAM63A,FAM91A2,FCGR1A,FLG,FLG2,GABPB2,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINC00568,LINC00623,LINGO4,LOC100132111,LOR,LYSMD1,MCL1,MIR4257,MIR554,MLLT11,MRPL9,MRPS21,MTMR11,OAZ3,OTUD7B,PGLYRP3,PI4KB,PIP5K1A,PLEKHO1,POGZ,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,RFX5,RIIAD1,RORC,RPRD2,RPTN,S100A10,S100A11,SCNM1,SELENBP1,SEMA6C,SETDB1,SF3B4,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SV2A,TARS2,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,VPS45,VPS72,ZNF687 chr1 149600000 163800000 Gain Hepatocellular carcinoma CGH 22174799 ADAM15,ADAMTS4,ADAMTSL4,ADAR,AIM2,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,ATP8B2,B4GALT3,BCAN,BGLAP,BNIPL,BOLA1,C1orf110,C1orf111,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf51,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CA14,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CDC42SE1,CELF3,CERS2,CGN,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CTSK,CTSS,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DPM3,DUSP12,DUSP23,ECM1,EFNA1,EFNA3,EFNA4,ENSA,ETV3,ETV3L,F11R,FAM189B,FAM63A,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,GABPB2,GATAD2B,GBA,GBAP1,GOLPH3L,GON4L,GPATCH4,HAPLN2,HAX1,HCN3,HDGF,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HORMAD1,HRNR,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINC00623,LINGO4,LMNA,LOC100131825,LOC100132111,LOC100505633,LOC100505666,LOC646268,LOR,LRRC71,LY9,LYSMD1,MCL1,MEF2D,MEX3A,MIR190B,MIR4257,MIR4258,MIR4654,MIR5187,MIR554,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MLLT11,MNDA,MPZ,MRPL24,MRPL9,MRPS21,MSTO1,MSTO2P,MTMR11,MTX1,MUC1,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NPR1,NR1I3,NTRK1,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAQR6,PBXIP1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PGLYRP3,PGLYRP4,PI4KB,PIGM,PIP5K1A,PKLR,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGZ,POU5F1P4,PPOX,PRCC,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RFX5,RGS4,RGS5,RHBG,RIIAD1,RIT1,RORC,RPL31P11,RPRD2,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SDHC,SELENBP1,SEMA4A,SEMA6C,SETDB1,SF3B4,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SSR2,SUMO1P3,SV2A,SYT11,TAGLN2,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,TUFT1,UAP1,UBAP2L,UBE2Q1,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VPS45,VPS72,VSIG8,YY1AP1,ZBTB7B,ZNF687 chr1 149600000 247249719 Gain Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 ABCB10,ABL2,ACBD3,ACBD6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HHAT,HHIPL2,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00623,LINC00626,LINC00628,LINGO4,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC646268,LOC728463,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTMR11,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PEA15,PEAR1,PEX19,PFDN2,PFKFB2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POU2F1,POU5F1P4,PPFIA4,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF847P,ZP4 chr1 149603323 149664502 Gain Normal Birdsuite, version 1.5.2 22087296 FAM91A2,LINC00623 chr1 149603405 149611805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM91A2,LINC00623 chr1 149603405 149611805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM91A2,LINC00623 chr1 149603405 149611807 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM91A2,LINC00623 chr1 149608001 149610000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM91A2,LINC00623 chr1 149613022 149613354 Gain and loss Pancreatic cancer SNP array 17952125 FAM91A2,LINC00623 chr1 149638664 149641036 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 FAM91A2 chr1 149638664 149641036 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FAM91A2 chr1 149638666 149641038 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM91A2 chr1 149638673 149641036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM91A2 chr1 149638673 149641036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM91A2 chr1 149641824 149698565 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM91A2 chr1 149641824 149698565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM91A2 chr1 149641824 149698565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM91A2 chr11 49655696 49709536 Loss Normal 244K array 17666407 LOC440040 chr11 4966000 4970233 Gain and loss Pancreatic cancer SNP array 17952125 OR51A4 chr11 49662971 49726234 Copy number Lung cancer paired-end sequencing 18438408 LOC440040 chr1 149663871 149670585 Gain and loss Pancreatic cancer SNP array 17952125 FAM91A2 chr11 49664940 49714065 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC440040 chr11 49666184 49714391 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC440040 chr11 49666218 49716446 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC440040 chr11 49666379 49714281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC440040 chr11 49667425 49703332 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC440040 chr11 49667437 49714078 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC440040 chr11 49667437 49714078 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440040 chr11 49677826 49982550 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC440040,OR4C13 chr11 49688867 50074123 Gain Normal 244K array 17666407 LOC440040,OR4C12,OR4C13 chr1 149693876 149693926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 149694112 149697434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 49715564 49722724 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC440040 chr11 49716131 49717264 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC440040 chr11 49716131 49717264 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440040 chr11 49739175 55448223 Substitutions and indels small cell lung cancer array-CGH 20016488 LOC440040,LOC441601,LOC646813,OR4A15,OR4A16,OR4A5,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C46,OR4C6,OR4P4,OR4S2,TRIM48,TRIM51HP chr1 149750497 149777789 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FCGR1A,HIST2H2BF chr1 149750497 149777789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCGR1A,HIST2H2BF chr1 149750497 149777789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCGR1A,HIST2H2BF chr1 149756201 149758142 Gain and loss Pancreatic cancer SNP array 17952125 FCGR1A,HIST2H2BF chr11 49758801 55438566 Copy number Lung cancer paired-end sequencing 18438408 LOC440040,LOC441601,LOC646813,OR4A15,OR4A16,OR4A5,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C46,OR4C6,OR4P4,OR4S2,TRIM48,TRIM51HP chr11 4976789 4977736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51A2 chr11 4976789 4977736 Gain and loss Pancreatic cancer SNP array 17952125 OR51A2 chr11 4976789 4977736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51A2 chr1 149769630 149771362 Gain and loss Pancreatic cancer SNP array 17952125 HIST2H2BF chr11 4977712 4985160 Gain Normal 244K array 17666407 NOT_FOUND chr1 149779405 149822683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIST2H2AA3,HIST2H2AA4,HIST2H2BC,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B chr1 149779405 149822683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIST2H2AA3,HIST2H2AA4,HIST2H2BC,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B chr1 149779405 149822683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIST2H2AA3,HIST2H2AA4,HIST2H2BC,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B chr1 149784896 149784991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIST2H3D chr1 149787298 149789405 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149796546 149797040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149805013 150821715 LOH Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANP32E,APH1A,ARNT,BOLA1,C1orf51,C1orf54,CA14,CTSK,CTSS,ECM1,ENSA,GOLPH3L,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H3A,HIST2H3C,HIST2H4A,HIST2H4B,HORMAD1,LINC00568,MCL1,MIR4257,MRPS21,MTMR11,OTUD7B,PLEKHO1,PRPF3,RPRD2,SF3B4,SV2A,TARS2,VPS45 chr11 49811265 49817448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440040 chr11 49811265 49817448 Gain and loss Pancreatic cancer SNP array 17952125 LOC440040 chr11 49811265 49817448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440040 chr1 149816752 149818449 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149825274 149899064 Gain and loss Pancreatic cancer SNP array 17952125 BOLA1,HIST2H2AB,HIST2H2AC,HIST2H2BE,HIST2H4A,HIST2H4B,SF3B4,SV2A chr11 49828501 49837000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC440040 chr11 49828703 49830627 Gain and loss Pancreatic cancer SNP array 17952125 LOC440040 chr11 49838143 49853132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149841672 149843061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149844333 150430616 LOH Normal High-resolution SNP genotyping 21211785 ANP32E,APH1A,BOLA1,C1orf51,C1orf54,CA14,HIST2H2AB,HIST2H2AC,HIST2H2BE,MRPS21,MTMR11,OTUD7B,PLEKHO1,PRPF3,RPRD2,SF3B4,SV2A,VPS45 chr1 149851182 149938183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BOLA1,HIST2H2AB,HIST2H2AC,HIST2H2BE,MTMR11,OTUD7B,SF3B4,SV2A chr1 149851182 149938183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BOLA1,HIST2H2AB,HIST2H2AC,HIST2H2BE,MTMR11,OTUD7B,SF3B4,SV2A chr11 49867559 49868073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149868424 149868530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49869997 49871905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 49875271 49875470 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 49891601 50271100 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC441601,OR4C12,OR4C13 chr11 4991194 4991449 Gain Normal 244K array 17666407 NOT_FOUND chr11 499204 651925 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 C11orf35,CDHR5,DEAF1,DRD4,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,RASSF7,RNH1,SCT chr1 149923997 149949407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OTUD7B chr1 149926040 149935659 Gain and loss Pancreatic cancer SNP array 17952125 OTUD7B chr11 4992944 4993885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49930542 49931480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49930542 49931480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49930551 49931480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 149941454 149955914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OTUD7B chr1 149941454 149955914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUD7B chr1 149942001 149955500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OTUD7B chr1 149949533 149968694 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OTUD7B chr1 149949533 149968694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUD7B chr1 149956117 149956205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTUD7B chr1 149958514 149992086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OTUD7B chr11 49959684 49960613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49959684 49960613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 49959684 51268971 Gain and loss Pancreatic cancer SNP array 17952125 LOC441601,LOC646813,OR4C12,OR4C13 chr1 149986697 149986800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149996759 149997542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149998746 150002664 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 149998749 150002664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 149998749 150002664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50001 110000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr1 150002236 150010429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150002236 150010429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150009206 150029634 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 150010629 150011424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150010674 150030516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150010674 150030516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50013000 50245780 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC441601 chr11 50013000 50404139 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC441601,LOC646813 chr11 50021328 51385578 Deletion or duplication Mortal Illumina 550K array 21835882 LOC441601,LOC646813 chr11 50033836 50081191 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 150034000 245120000 Amplification Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ABCB10,ABL2,ACBD3,ACBD6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BGLAP,BLZF1,BNIPL,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00626,LINC00628,LINGO4,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC646268,LOC728463,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PEA15,PEAR1,PEX19,PFDN2,PFKFB2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POU2F1,POU5F1P4,PPFIA4,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr1 150034000 245120000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ABCB10,ABL2,ACBD3,ACBD6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BGLAP,BLZF1,BNIPL,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CENPF,CENPL,CEP170,CEP350,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSRP1,CTSE,CTSK,CTSS,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,ENSA,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM71A,FAM72A,FAM78B,FAM89A,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,FMOD,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSPA6,HSPA7,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00626,LINC00628,LINGO4,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC646268,LOC728463,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5187,MIR5191,MIR548F1,MIR554,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PEA15,PEAR1,PEX19,PFDN2,PFKFB2,PGBD5,PGLYRP3,PGLYRP4,PHLDA3,PI4KB,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POU2F1,POU5F1P4,PPFIA4,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PROX1,PRPF3,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMB4,PSMD4,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIIAD1,RIT1,RNASEL,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RORC,RPL31P11,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SOAT1,SOX13,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TGFB2,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,TUFT1,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VPS45,VPS72,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF678,ZNF687,ZNF847P,ZP4 chr11 50035201 50669978 Gain Autism Exome sequencing and CGH 22495309 LOC441601,LOC646813 chr1 15003662 15003737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KAZN chr1 150039389 150044506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS45 chr1 150039389 150044506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS45 chr1 150040001 150042000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VPS45 chr11 50040312 51149570 LOH Normal High-resolution SNP genotyping 21211785 LOC441601,LOC646813 chr11 50040312 51449216 LOH Normal High-resolution SNP genotyping 21211785 LOC441601,LOC646813,OR4A5 chr1 150042001 150077000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VPS45 chr1 150045173 150070972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS45 chr1 150045173 150070972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS45 chr1 150046354 150047580 Gain and loss Pancreatic cancer SNP array 17952125 VPS45 chr1 150047118 150645498 LOH Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANP32E,APH1A,C1orf51,C1orf54,CA14,ECM1,ENSA,GOLPH3L,LINC00568,MCL1,MIR4257,MRPS21,PLEKHO1,PRPF3,RPRD2,TARS2,VPS45 chr1 150059069 150059169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS45 chr11 50074674 50553042 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC441601,LOC646813 chr1 150077001 150079500 Copy number Normal ReadDepth: A Parallel R Package 21305028 VPS45 chr11 50077860 50404139 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC441601,LOC646813 chr1 150080836 150080937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS45 chr1 150081603 150092797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS45 chr1 150081603 150092797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS45 chr1 150083411 150096267 Gain and loss Pancreatic cancer SNP array 17952125 VPS45 chr1 150089136 151730075 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTSL4,ANP32E,ANXA9,APH1A,ARNT,BNIPL,C1orf51,C1orf54,C1orf56,CA14,CDC42SE1,CELF3,CERS2,CGN,CTSK,CTSS,ECM1,ENSA,FAM63A,GABPB2,GOLPH3L,HORMAD1,LINC00568,LYSMD1,MCL1,MIR4257,MIR554,MLLT11,MRPS21,PI4KB,PIP5K1A,PLEKHO1,POGZ,PRPF3,PRUNE,PSMB4,PSMD4,RFX5,RIIAD1,RPRD2,SCNM1,SELENBP1,SEMA6C,SETDB1,SNX27,TARS2,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,VPS45,VPS72,ZNF687 chr1 150098461 150694112 LOH Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANP32E,APH1A,C1orf51,C1orf54,CA14,ECM1,ENSA,GOLPH3L,HORMAD1,LINC00568,MCL1,MIR4257,MRPS21,PLEKHO1,PRPF3,RPRD2,TARS2,VPS45 chr1 150110281 150110381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS45 chr1 150112683 150148737 Gain or loss Breast cancer - 20668451 PLEKHO1,VPS45 chr1 150112683 150148737 Gain or loss Cancer - 20668451 PLEKHO1,VPS45 chr1 150112683 150148737 Gain or loss Lung cancer - 20668451 PLEKHO1,VPS45 chr1 150112683 150148737 Gain or loss Ovarian cancer - 20668451 PLEKHO1,VPS45 chr1 150112683 150148737 Gain or loss Pancreas cancer - 20668451 PLEKHO1,VPS45 chr1 150112683 150148737 Gain or loss Prostate cancer - 20668451 PLEKHO1,VPS45 chr1 150112683 150148737 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 PLEKHO1,VPS45 chr1 150112684 150148737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHO1,VPS45 chr1 150112684 150148737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHO1,VPS45 chr1 150115672 150134118 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHO1,VPS45 chr1 150117171 150117277 Gain and loss Pancreatic cancer SNP array 17952125 VPS45 chr11 5012601 5012701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MMP26 chr1 150141044 150251582 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 ANP32E,APH1A,C1orf54,CA14 chr1 150143403 150146572 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5014819 5015757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150159254 150161148 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150171839 150171938 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 150175582 150176622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150187025 150190014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50194690 51052508 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC441601,LOC646813 chr11 50195574 50214199 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 50195574 50214199 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr11 50195576 50214199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50195576 50214199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50198205 51176074 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC441601,LOC646813 chr1 150200127 150200365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANP32E chr1 150200134 150200277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANP32E chr1 150203493 150204904 Gain and loss Pancreatic cancer SNP array 17952125 ANP32E chr1 150222009 150233338 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 CA14 chr1 150222010 150233338 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 CA14 chr1 150222011 150233338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CA14 chr1 150222011 150233338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA14 chr1 150222607 150223878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150223583 150232068 Gain Normal 244K array 17666407 CA14 chr11 50230022 50404139 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC441601,LOC646813 chr1 150243294 150246210 Gain and loss Pancreatic cancer SNP array 17952125 C1orf54 chr11 5024332 5025267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5024332 5025267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50245511 51558879 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 LOC441601,LOC646813,OR4A5,OR4C46 chr11 50248032 50339095 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC441601 chr11 50256798 61426521 Deletion Esophageal cancer affymetrix genechip human mapping 276K Nsp arrays 21851588 APLNR,BTBD18,C11orf31,CCDC86,CD5,CD6,CLP1,CNTF,CPSF7,CTNND1,CYBASC3,DAK,DDB1,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LINC00301,LOC283194,LOC441601,LOC646813,LPXN,LRRC10B,LRRC55,MED19,MIR130A,MIR3162,MIR4488,MPEG1,MRPL16,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4A15,OR4A16,OR4A5,OR4C11,OR4C15,OR4C16,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PGA3,PGA4,PGA5,PLAC1L,PPP1R32,PRG2,PRG3,PRPF19,PTGDR2,RPLP0P2,RTN4RL2,SDHAF2,SERPING1,SLC15A3,SLC43A1,SLC43A3,SMTNL1,SSRP1,STX3,SYT7,TCN1,TIMM10,TMEM109,TMEM132A,TMEM138,TMEM216,TMX2,TMX2-CTNND1,TNKS1BP1,TRIM48,TRIM51,TRIM51HP,UBE2L6,VPS37C,VWCE,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF,ZP1 chr11 50257000 134448000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC441601,LOC643037,LOC643733,LOC643923,LOC646813,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A5,OR4C11,OR4C15,OR4C16,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr1 150257762 150261608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf51 chr11 50269751 50302500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 150271605 150276135 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 MRPS21 chr1 150271606 150276135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPS21 chr1 150271606 150276135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPS21 chr11 50285478 51231280 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC646813 chr11 50285478 51231280 LOH Normal High-resolution SNP genotyping 21211785 LOC646813 chr1 150286012 150286313 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 50290972 51449216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC646813,OR4A5 chr11 50293606 50310740 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 150300000 155000000 Amplification Gastrointestinal cancer References 16790693 ADAMTSL4,ADAR,ANXA9,AQP10,ARNT,ATP8B2,BNIPL,C1orf189,C1orf43,C1orf56,C1orf68,C2CD4D,CDC42SE1,CELF3,CERS2,CGN,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,CTSK,CTSS,DCST2,DENND4B,ECM1,ENSA,FAM63A,FLAD1,FLG,FLG2,GABPB2,GATAD2B,GOLPH3L,HAX1,HORMAD1,HRNR,IL6R,ILF2,INTS3,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINC00568,LINGO4,LOC100132111,LOR,LYSMD1,MCL1,MIR190B,MIR4257,MIR4258,MIR554,MLLT11,MRPL9,NPR1,NUP210L,OAZ3,PBXIP1,PGLYRP3,PGLYRP4,PI4KB,PIP5K1A,PMVK,POGZ,PRPF3,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RFX5,RIIAD1,RORC,RPRD2,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SELENBP1,SEMA6C,SETDB1,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,TARS2,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,UBAP2L,UBE2Q1,VPS72,ZBTB7B,ZNF687 chr11 50306001 50324500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 150306335 150329391 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 PRPF3 chr1 150317052 150317310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF3 chr1 150317501 150320000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRPF3 chr1 150318579 150319682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRPF3 chr1 150318579 150319682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF3 chr1 150320149 150321771 Gain and loss Pancreatic cancer SNP array 17952125 PRPF3 chr11 50322469 50322985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 150322696 150327314 Copy number Autism Illumina Humanhap300 Beadchips 19492091 PRPF3 chr1 150322696 150327314 Gain and loss Pancreatic cancer SNP array 17952125 PRPF3 chr1 150323242 150328165 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRPF3 chr1 150323242 150328165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPF3 chr1 150323242 150328165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF3 chr11 50324894 50336379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150329171 150331355 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150332882 150334807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 50335199 56087807 Amplification Breast cancer FISH 17142309 LOC646813,OR10AG1,OR4A15,OR4A16,OR4A5,OR4C11,OR4C15,OR4C16,OR4C46,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J3,OR8K3,OR8K5,TRIM48,TRIM51,TRIM51HP chr11 50338501 50600500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC646813 chr11 50343409 51228612 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 LOC646813 chr11 50343866 50344398 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 150345416 150384330 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 RPRD2 chr1 150345417 150353180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPRD2 chr1 150345417 150353180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPRD2 chr1 150345417 150353180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPRD2 chr1 150346660 150351379 Gain and loss Pancreatic cancer SNP array 17952125 RPRD2 chr1 150347185 150347285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPRD2 chr11 5035101 5035201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 150355573 150496340 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 ECM1,LINC00568,RPRD2,TARS2 chr1 150363544 150364180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPRD2 chr11 5036456 5037433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5036456 5037433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5036456 5037433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50372569 50967257 Amplification Medulloblastoma Illumina SNP arrays 21163964 LOC646813 chr11 50374125 51139473 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC646813 chr1 150392441 150398627 Gain and loss Pancreatic cancer SNP array 17952125 RPRD2 chr1 150392695 150398328 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPRD2 chr1 150392695 150398328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPRD2 chr1 150392695 150398328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPRD2 chr1 150399807 150401863 Gain and loss Pancreatic cancer SNP array 17952125 RPRD2 chr1 150404357 150416909 Gain and loss Pancreatic cancer SNP array 17952125 RPRD2 chr1 150408628 151350790 LOH Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANXA9,ARNT,BNIPL,C1orf56,CDC42SE1,CERS2,CTSK,CTSS,ECM1,ENSA,FAM63A,GABPB2,GOLPH3L,HORMAD1,LINC00568,LYSMD1,MCL1,MIR4257,MLLT11,PI4KB,PIP5K1A,PRUNE,PSMD4,RFX5,RPRD2,SCNM1,SELENBP1,SEMA6C,SETDB1,TARS2,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150410072 151087131 LOH Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANXA9,ARNT,BNIPL,C1orf56,CDC42SE1,CERS2,CTSK,CTSS,ECM1,ENSA,FAM63A,GABPB2,GOLPH3L,HORMAD1,LINC00568,MCL1,MIR4257,MLLT11,PRUNE,RPRD2,SETDB1,TARS2 chr1 150410072 151107721 LOH Normal High-resolution SNP genotyping 21211785 ADAMTSL4,ANXA9,ARNT,BNIPL,C1orf56,CDC42SE1,CERS2,CTSK,CTSS,ECM1,ENSA,FAM63A,GABPB2,GOLPH3L,HORMAD1,LINC00568,MCL1,MIR4257,MLLT11,PRUNE,RPRD2,SEMA6C,SETDB1,TARS2 chr11 50411150 51449216 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A5 chr1 150413933 150417586 Gain and loss Pancreatic cancer SNP array 17952125 RPRD2 chr11 50416892 50417570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 150419624 150431854 Gain and loss Pancreatic cancer SNP array 17952125 RPRD2 chr11 50424537 50546653 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr11 50428690 51128235 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50428690 51234864 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50428690 51234864 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50432889 51231280 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50432889 51231280 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50433094 51231280 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50434345 51234864 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50434345 51449216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OR4A5 chr11 50434784 51231280 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50434784 51231280 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 150435001 150436000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPRD2 chr1 150444226 150447378 Gain and loss Pancreatic cancer SNP array 17952125 RPRD2 chr1 150447588 150456552 Gain and loss Pancreatic cancer SNP array 17952125 RPRD2 chr1 150451176 150463296 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TARS2 chr1 150451176 150463296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TARS2 chr1 150451176 150463296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TARS2 chr1 150455501 150460000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TARS2 chr1 150464186 150479536 Gain and loss Pancreatic cancer SNP array 17952125 TARS2 chr11 50471487 51231280 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50471487 51231280 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 5047378 5048303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5047378 5048303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50477323 51234864 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50477323 51234864 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 50478701 50480685 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 150489637 150489929 Gain and loss Pancreatic cancer SNP array 17952125 LINC00568 chr1 150500733 150507137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 50508731 50508775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 150511802 150511902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150511803 150511902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150513616 150559628 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTSL4,MCL1,MIR4257 chr11 50523234 50523323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 150526261 150526306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTSL4 chr11 50535454 50537346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 5053936 5054872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150539675 150539776 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150541275 150564303 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MCL1 chr1 150541275 150564303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCL1 chr1 150541275 150564303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCL1 chr1 150543001 150553000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MCL1 chr1 150544673 151264998 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA9,ARNT,BNIPL,C1orf56,CDC42SE1,CERS2,CTSK,CTSS,ENSA,FAM63A,GABPB2,GOLPH3L,HORMAD1,LYSMD1,MCL1,MLLT11,PI4KB,PIP5K1A,PRUNE,PSMD4,SCNM1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150551434 151351996 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,ARNT,BNIPL,C1orf56,CDC42SE1,CERS2,CTSK,CTSS,ENSA,FAM63A,GABPB2,GOLPH3L,HORMAD1,LYSMD1,MCL1,MLLT11,PI4KB,PIP5K1A,PRUNE,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150552870 151087131 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,ARNT,BNIPL,C1orf56,CDC42SE1,CERS2,CTSK,CTSS,ENSA,FAM63A,GABPB2,GOLPH3L,HORMAD1,MLLT11,PRUNE,SETDB1 chr1 150558742 150559161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150559903 150565699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150571271 150571370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150580969 150587644 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150587837 150599106 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ENSA chr1 150587838 150599106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENSA chr1 150587838 150599106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENSA chr1 150592178 150708297 Gain and loss Pancreatic cancer SNP array 17952125 CTSS,ENSA,GOLPH3L,HORMAD1 chr11 50594821 50594899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 50600001 50890950 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 50600501 50610000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 50616001 50619500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 50625501 50638500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 50626269 51049446 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 5063541 5063787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 5063545 5063791 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 50638501 50641500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 150638676 150638973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLPH3L chr11 50641501 50658500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 50643840 50671856 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 150648343 150653363 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GOLPH3L chr1 150648343 150653363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLPH3L chr1 150648343 150653363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLPH3L chr11 50658501 50667000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 50667001 50713500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 150670169 150675300 Loss Normal Birdsuite, version 1.5.2 22087296 HORMAD1 chr1 150675300 150702108 Loss Normal Birdsuite, version 1.5.2 22087296 HORMAD1 chr1 150696441 150696626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5070482 5071417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 50713501 50729000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 150715050 150732245 Gain and loss Pancreatic cancer SNP array 17952125 CTSS chr11 50715282 51018200 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 150733227 150744116 Gain and loss Pancreatic cancer SNP array 17952125 CTSS chr11 50735001 50846500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 150744651 150827666 Gain and loss Pancreatic cancer SNP array 17952125 ARNT,CTSK chr1 150745248 150794946 Copy number gain Normal High-resolution SNP genotyping 21211785 ARNT,CTSK chr1 150745248 150822254 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARNT,CTSK chr1 150749943 150751277 Deletion Normal BAC aCGH 22315515 NOT_FOUND chr1 150749944 150751277 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 150749944 150751277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150749944 150751277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150753452 150759905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150753601 150755105 Deletion Normal BAC aCGH 22315515 NOT_FOUND chr1 150753602 150755104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 150753602 150755104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150753602 150755104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150759820 150763524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 150760498 150760598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 150767203 150771879 Gain and loss Pancreatic cancer SNP array 17952125 CTSK chr1 150776311 150777696 Gain and loss Pancreatic cancer SNP array 17952125 CTSK chr1 150777235 150778761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTSK chr1 150778234 150925401 Gain and loss Pancreatic cancer SNP array 17952125 ARNT,CTSK,SETDB1 chr1 150783627 150783698 Gain and loss Pancreatic cancer SNP array 17952125 ARNT chr1 150785556 150835046 Copy number loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150785556 150856779 Copy number loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150794946 151435389 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,ARNT,BNIPL,C1orf56,CDC42SE1,CERS2,FAM63A,GABPB2,LYSMD1,MLLT11,PI4KB,PIP5K1A,POGZ,PRUNE,PSMB4,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150803800 150855119 Copy number loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150803800 151435389 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,ARNT,BNIPL,C1orf56,CDC42SE1,CERS2,FAM63A,GABPB2,LYSMD1,MLLT11,PI4KB,PIP5K1A,POGZ,PRUNE,PSMB4,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150804396 150821715 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARNT chr1 150804753 150805872 Deletion Normal BAC aCGH 22315515 ARNT chr1 150804754 150805872 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARNT chr1 150804754 150805872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARNT chr1 150804754 150805872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT chr1 150804947 150821715 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARNT chr1 150817924 150821629 Copy number loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150818483 150819604 Deletion Normal BAC aCGH 22315515 ARNT chr1 150818485 150819604 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARNT chr1 150818485 150819604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARNT chr1 150818485 150819604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT chr1 150818755 150822254 Copy number loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150819377 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150819377 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150819431 150852850 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150819431 150857189 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150819443 150853164 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNT chr1 150819443 150853218 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNT chr1 150819638 150853152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150819650 150853218 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNT chr11 5081977 5082712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150819829 150824856 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARNT chr1 150819829 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150819829 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150820118 150856712 Copy number loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150820476 150855119 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150820476 150855119 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150820476 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150820476 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821180 150855119 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821180 150855119 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821180 150856712 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821180 150856712 Copy number loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821180 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821180 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821180 150856779 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821180 150856779 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821425 150855119 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821425 150855119 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821425 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821425 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821629 150853164 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNT chr1 150821629 150853210 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821629 150853210 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821629 150853218 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNT chr1 150821629 150855119 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821629 150855119 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821629 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821629 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821629 150856779 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821629 150856779 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821715 150855119 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821715 150855119 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821715 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821715 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821715 150856779 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821715 150856779 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150821800 150822330 Loss Normal Birdsuite, version 1.5.2 22087296 ARNT chr1 150821800 150852330 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150821800 150852729 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150821800 150852850 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150821800 150852890 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150821800 150853152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150821800 150853206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150821800 150853206 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150821801 150857105 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ARNT chr1 150822139 150853152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822139 150853206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822151 150852862 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNT chr1 150822151 150853218 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNT chr1 150822223 150852849 Loss Autism 1M Ailent CGH whole-genome array 21865298 ARNT chr1 150822234 150856715 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ARNT chr1 150822254 150853418 Copy number gain Normal High-resolution SNP genotyping 21211785 ARNT chr1 150822254 150855119 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150822254 150855119 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150822254 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150822254 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150822318 150852850 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822318 150853152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822318 150853206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822318 150853206 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822318 150857189 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822330 150853218 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNT chr1 150822330 150853218 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ARNT chr1 150822330 150853218 Loss Normal Birdsuite, version 1.5.2 22087296 ARNT chr1 150822379 150853152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822379 150853206 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150822501 150825000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARNT chr1 150822873 150853058 Copy number Incontinentia Pigmenti Agilent SurePrint G20 one Million microarrays 22033527 ARNT chr1 150823203 150855119 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150823203 150855119 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150823203 150856712 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150823203 150856712 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150824856 150855119 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150824856 150855119 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARNT chr1 150825001 150839000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARNT chr1 150825468 150825571 Gain and loss Pancreatic cancer SNP array 17952125 ARNT chr1 150825469 150825571 Gain and loss Pancreatic cancer SNP array 17952125 ARNT chr1 150827480 150853188 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT chr1 150839001 150854250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARNT chr1 150839762 150840186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARNT chr1 150839762 150840186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT chr1 150839831 150840116 Deletion and duplication Crohn's disease References 21956041 ARNT chr1 150839831 150840116 Deletion Normal BAC aCGH 22315515 ARNT chr1 150839872 150852917 Loss Autism 1M Ailent CGH whole-genome array 21865298 ARNT chr1 150841957 150851439 Deletion Cancer ultra-high resolution array CGH 21272361 ARNT chr11 50846501 51125000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 150852910 150853198 Copy number Multiple sclerosis Affymetrix 6.0 arrays 20428171 NOT_FOUND chr1 150852910 150853198 Deletion and duplication Crohn's disease References 21956041 NOT_FOUND chr1 150852910 150853198 Deletion Normal BAC aCGH 22315515 NOT_FOUND chr1 150852911 150853198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150852911 150853198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150853218 150857374 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 150854251 151772000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANXA9,BNIPL,C1orf56,CDC42SE1,CELF3,CERS2,CGN,FAM63A,GABPB2,LYSMD1,MIR554,MLLT11,MRPL9,OAZ3,PI4KB,PIP5K1A,POGZ,PRUNE,PSMB4,PSMD4,RFX5,RIIAD1,SCNM1,SELENBP1,SEMA6C,SETDB1,SNX27,TDRKH,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,VPS72,ZNF687 chr1 150855119 151511977 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,BNIPL,C1orf56,CDC42SE1,CERS2,CGN,FAM63A,GABPB2,LYSMD1,MLLT11,PI4KB,PIP5K1A,POGZ,PRUNE,PSMB4,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150855119 156897805 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADAM15,ADAR,ANXA9,APOA1BP,AQP10,ARHGEF2,ASH1L,ASH1L-AS1,ATP8B2,BCAN,BGLAP,BNIPL,C1orf189,C1orf43,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CCT3,CDC42SE1,CELF3,CERS2,CGN,CHRNB2,CHTOP,CKS1B,CLK2,CRABP2,CRCT1,CREB3L4,CRNN,CRTC2,DAP3,DCST1,DCST2,DENND4B,DPM3,EFNA1,EFNA3,EFNA4,FAM189B,FAM63A,FDPS,FLAD1,FLG,FLG2,GABPB2,GATAD2B,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HAX1,HCN3,HDGF,HRNR,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,IVL,JTB,KCNN3,KIAA0907,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINGO4,LMNA,LOC100132111,LOC100505666,LOR,LRRC71,LYSMD1,MEF2D,MEX3A,MIR190B,MIR4258,MIR554,MIR555,MIR9-1,MIR92B,MLLT11,MRPL24,MRPL9,MSTO1,MSTO2P,MTX1,MUC1,NES,NPR1,NTRK1,NUP210L,OAZ3,PAQR6,PBXIP1,PEAR1,PGLYRP3,PGLYRP4,PI4KB,PIP5K1A,PKLR,PMF1,PMF1-BGLAP,PMVK,POGZ,POU5F1P4,PRCC,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RFX5,RHBG,RIIAD1,RIT1,RORC,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SELENBP1,SEMA4A,SEMA6C,SETDB1,SH2D2A,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SSR2,SYT11,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TTC24,TUFT1,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 150856712 150864854 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 150856712 151446306 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,BNIPL,C1orf56,CDC42SE1,CERS2,FAM63A,GABPB2,LYSMD1,MLLT11,PI4KB,PIP5K1A,POGZ,PRUNE,PSMB4,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150860320 151410431 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,BNIPL,C1orf56,CDC42SE1,CERS2,FAM63A,GABPB2,LYSMD1,MLLT11,PI4KB,PIP5K1A,POGZ,PRUNE,PSMB4,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150860320 151412118 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,BNIPL,C1orf56,CDC42SE1,CERS2,FAM63A,GABPB2,LYSMD1,MLLT11,PI4KB,PIP5K1A,POGZ,PRUNE,PSMB4,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150860545 151448162 LOH Normal High-resolution SNP genotyping 21211785 ANXA9,BNIPL,C1orf56,CDC42SE1,CERS2,FAM63A,GABPB2,LYSMD1,MLLT11,PI4KB,PIP5K1A,POGZ,PRUNE,PSMB4,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 chr1 150861933 150862203 Deletion Normal BAC aCGH 22315515 NOT_FOUND chr1 150861934 150862203 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 150861934 150862203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150861934 150862203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150863901 153216800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANXA9,BNIPL,C1orf56,C1orf68,C2CD4D,CDC42SE1,CELF3,CERS2,CGN,CRCT1,CRNN,FAM63A,FLG,FLG2,GABPB2,HRNR,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LINGO4,LOC100132111,LYSMD1,MIR554,MLLT11,MRPL9,OAZ3,PI4KB,PIP5K1A,POGZ,PRR9,PRUNE,PSMB4,PSMD4,RFX5,RIIAD1,RORC,RPTN,S100A10,S100A11,SCNM1,SELENBP1,SEMA6C,SETDB1,SMCP,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TUFT1,VPS72,ZNF687 chr1 150864854 150936820 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SETDB1 chr1 150864854 150936820 Copy number gain Normal High-resolution SNP genotyping 21211785 SETDB1 chr1 150864854 150937265 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SETDB1 chr1 150864854 185982557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABL2,ACBD6,ADAM15,ADAMTS4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,ANXA9,APCS,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BGLAP,BLZF1,BNIPL,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf43,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,EDEM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,F11R,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GLT25D2,GLUL,GM140,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,HAPLN2,HAX1,HCN3,HDGF,HMCN1,HRNR,HSD17B7,HSPA6,HSPA7,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00626,LINGO4,LMNA,LMX1A,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC400794,LOC440700,LOC646268,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4258,MIR4424,MIR4654,MIR488,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MSTO1,MSTO2P,MTX1,MUC1,MYOC,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PGLYRP3,PGLYRP4,PI4KB,PIGC,PIGM,PIP5K1A,PKLR,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POU2F1,POU5F1P4,PPOX,PRCC,PRDX6,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF2,RORC,RPL31P11,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SSR2,STX6,SUCO,SUMO1P3,SWT1,SYT11,TADA1,TAGLN2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRIM46,TRMT1L,TSACC,TSEN15,TSTD1,TTC24,TUFT1,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 150864970 156897805 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADAM15,ADAR,ANXA9,APOA1BP,AQP10,ARHGEF2,ASH1L,ASH1L-AS1,ATP8B2,BCAN,BGLAP,BNIPL,C1orf189,C1orf43,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CCT3,CDC42SE1,CELF3,CERS2,CGN,CHRNB2,CHTOP,CKS1B,CLK2,CRABP2,CRCT1,CREB3L4,CRNN,CRTC2,DAP3,DCST1,DCST2,DENND4B,DPM3,EFNA1,EFNA3,EFNA4,FAM189B,FAM63A,FDPS,FLAD1,FLG,FLG2,GABPB2,GATAD2B,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HAX1,HCN3,HDGF,HRNR,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,IVL,JTB,KCNN3,KIAA0907,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINGO4,LMNA,LOC100132111,LOC100505666,LOR,LRRC71,LYSMD1,MEF2D,MEX3A,MIR190B,MIR4258,MIR554,MIR555,MIR9-1,MIR92B,MLLT11,MRPL24,MRPL9,MSTO1,MSTO2P,MTX1,MUC1,NES,NPR1,NTRK1,NUP210L,OAZ3,PAQR6,PBXIP1,PEAR1,PGLYRP3,PGLYRP4,PI4KB,PIP5K1A,PKLR,PMF1,PMF1-BGLAP,PMVK,POGZ,POU5F1P4,PRCC,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RAB25,RFX5,RHBG,RIIAD1,RIT1,RORC,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCNM1,SELENBP1,SEMA4A,SEMA6C,SETDB1,SH2D2A,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SSR2,SYT11,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TRIM46,TSACC,TTC24,TUFT1,UBAP2L,UBE2Q1,UBQLN4,VHLL,VPS72,YY1AP1,ZBTB7B,ZNF687 chr1 150864970 185982557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABL2,ACBD6,ADAM15,ADAMTS4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,ANXA9,APCS,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARPC5,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B4GALT3,BCAN,BGLAP,BLZF1,BNIPL,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf43,C1orf56,C1orf61,C1orf68,C1orf85,C2CD4D,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC42SE1,CELF3,CENPL,CEP350,CERS2,CGN,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,EDEM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,F11R,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM63A,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GABPB2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GLT25D2,GLUL,GM140,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,HAPLN2,HAX1,HCN3,HDGF,HMCN1,HRNR,HSD17B7,HSPA6,HSPA7,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITLN1,ITLN2,IVL,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LHX4,LINC00272,LINC00626,LINGO4,LMNA,LMX1A,LOC100131825,LOC100132111,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC400794,LOC440700,LOC646268,LOC730102,LOC730159,LOR,LRRC52,LRRC71,LY9,LYSMD1,MAEL,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4258,MIR4424,MIR4654,MIR488,MIR5187,MIR554,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MLLT11,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL9,MRPS14,MSTO1,MSTO2P,MTX1,MUC1,MYOC,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUF2,NUP210L,OAZ3,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PGLYRP3,PGLYRP4,PI4KB,PIGC,PIGM,PIP5K1A,PKLR,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POU2F1,POU5F1P4,PPOX,PRCC,PRDX6,PRR9,PRRC2C,PRRX1,PRUNE,PSMB4,PSMD4,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBG,RIIAD1,RIT1,RNASEL,RNF2,RORC,RPL31P11,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCNM1,SCYL3,SDHC,SEC16B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SETDB1,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SOAT1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SSR2,STX6,SUCO,SUMO1P3,SWT1,SYT11,TADA1,TAGLN2,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRIM46,TRMT1L,TSACC,TSEN15,TSTD1,TTC24,TUFT1,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VPS72,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB7B,ZNF648,ZNF687 chr1 150883493 150883817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150894577 150895890 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 150894577 150895890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150894577 150895890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150902496 150903759 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SETDB1 chr1 150902496 150903759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETDB1 chr1 150902496 150903759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETDB1 chr1 150902513 150902586 Gain and loss Pancreatic cancer SNP array 17952125 SETDB1 chr1 150914395 150915674 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SETDB1 chr1 150914395 150915674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETDB1 chr1 150914395 150915674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETDB1 chr1 150915656 150926071 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SETDB1 chr1 150915656 150926071 Copy number gain Normal High-resolution SNP genotyping 21211785 SETDB1 chr1 150915736 150923166 Loss Normal Birdsuite, version 1.5.2 22087296 SETDB1 chr1 150925223 150926496 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SETDB1 chr1 150925223 150926496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETDB1 chr1 150937464 150938542 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CERS2 chr1 150937464 150938542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS2 chr1 150937464 150938542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS2 chr1 150941915 150977653 Gain and loss Pancreatic cancer SNP array 17952125 ANXA9,CERS2,FAM63A chr1 150947260 150948591 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CERS2 chr1 150947260 150948591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS2 chr1 150947260 150948591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS2 chr11 50951547 51313864 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 150951794 150952098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 50952568 51051627 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 50952568 51185373 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 150957706 150959570 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANXA9 chr1 150957706 150959570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA9 chr1 150976618 150976968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM63A chr11 50978600 51407954 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 150980785 151015894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BNIPL,FAM63A,PRUNE chr1 150983399 150983706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRUNE chr11 5098470 5099384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5098470 5099384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 150984982 150991862 Gain and loss Pancreatic cancer SNP array 17952125 PRUNE chr1 15099001 15356500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KAZN chr1 150992256 151006166 Gain and loss Pancreatic cancer SNP array 17952125 PRUNE chr1 150997130 151001153 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRUNE chr1 150997130 151001153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRUNE chr1 150997130 151001153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRUNE chr1 151000001 155000000 Amplification Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ADAR,AQP10,ATP8B2,BNIPL,C1orf189,C1orf43,C1orf56,C1orf68,C2CD4D,CDC42SE1,CELF3,CGN,CHRNB2,CHTOP,CKS1B,CRCT1,CREB3L4,CRNN,CRTC2,DCST2,DENND4B,FLAD1,FLG,FLG2,GABPB2,GATAD2B,HAX1,HRNR,IL6R,ILF2,INTS3,IVL,JTB,KCNN3,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINGO4,LOC100132111,LOR,LYSMD1,MIR190B,MIR4258,MIR554,MLLT11,MRPL9,NPR1,NUP210L,OAZ3,PBXIP1,PGLYRP3,PGLYRP4,PI4KB,PIP5K1A,PMVK,POGZ,PRR9,PRUNE,PSMB4,PSMD4,PYGO2,RAB13,RFX5,RIIAD1,RORC,RPS27,RPTN,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCNM1,SELENBP1,SEMA6C,SHC1,SHE,SLC27A3,SLC39A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,TCHH,TCHHL1,TDRD10,TDRKH,THEM4,THEM5,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TPM3,TUFT1,UBAP2L,UBE2Q1,VPS72,ZBTB7B,ZNF687 chr1 15100000 16720000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 AGMAT,ARHGEF19,C1orf126,C1orf64,CASP9,CELA2A,CELA2B,CLCNKA,CLCNKB,CTRC,DDI2,DNAJC16,EFHD2,EPHA2,FAM131C,FBLIM1,FBXO42,FHAD1,FLJ37453,HSPB7,KAZN,PLEKHM2,RSC1A1,RSG1,SLC25A34,SPEN,SZRD1,TMEM51,TMEM82,UQCRHL,ZBTB17 chr1 151006887 151057058 Gain and loss Pancreatic cancer SNP array 17952125 BNIPL,C1orf56,CDC42SE1,GABPB2,MLLT11,PRUNE chr1 151015472 151015828 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BNIPL chr1 151015472 151015828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BNIPL chr1 151015472 151015828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BNIPL chr1 151017849 151035312 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BNIPL,C1orf56,CDC42SE1,MLLT11 chr1 151021254 151035312 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf56,CDC42SE1,MLLT11 chr1 151021254 151040529 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf56,CDC42SE1,MLLT11 chr1 151021254 151045200 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf56,CDC42SE1,GABPB2,MLLT11 chr11 51021762 56412326 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 OR10AG1,OR4A15,OR4A16,OR4A5,OR4C11,OR4C15,OR4C16,OR4C46,OR4C6,OR4P4,OR4S2,OR5AP2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr1 151023881 151032984 Copy number loss Normal High-resolution SNP genotyping 21211785 CDC42SE1,MLLT11 chr1 151023883 151023937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42SE1 chr1 151024314 151034871 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDC42SE1,MLLT11 chr1 151024314 151035312 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDC42SE1,MLLT11 chr1 151024314 151043367 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDC42SE1,GABPB2,MLLT11 chr1 151024314 151045200 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDC42SE1,GABPB2,MLLT11 chr1 151025314 151027523 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDC42SE1 chr1 151025314 151027523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42SE1 chr1 151025314 151027523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42SE1 chr1 151025846 151037023 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CDC42SE1,MLLT11 chr1 151025846 151037023 Total allelic loss Normal High-resolution SNP genotyping 21211785 CDC42SE1,MLLT11 chr1 151026302 151035312 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CDC42SE1,MLLT11 chr1 151026302 151035324 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CDC42SE1,MLLT11 chr1 151026303 151040528 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CDC42SE1,MLLT11 chr1 151026503 151038146 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CDC42SE1,MLLT11 chr1 151026503 151038146 Total allelic loss Normal High-resolution SNP genotyping 21211785 CDC42SE1,MLLT11 chr1 151026773 151036902 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 CDC42SE1,MLLT11 chr1 151028535 151040529 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDC42SE1,MLLT11 chr1 151028547 151035324 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CDC42SE1,MLLT11 chr1 151028547 151035324 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CDC42SE1,MLLT11 chr1 151028658 151034286 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CDC42SE1,MLLT11 chr1 151029268 151035312 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CDC42SE1,MLLT11 chr1 151035841 151038020 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLLT11 chr1 151035851 151037281 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLLT11 chr1 151035851 151037281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT11 chr11 51037120 51053514 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 151043935 151045731 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GABPB2 chr1 151043935 151045731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABPB2 chr1 151045276 151045410 Gain and loss Pancreatic cancer SNP array 17952125 GABPB2 chr1 151045276 151045411 Gain and loss Pancreatic cancer SNP array 17952125 GABPB2 chr11 51047948 51231280 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51047948 51231280 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51049446 51318418 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr1 151051071 151052209 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GABPB2 chr1 151051461 151051990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GABPB2 chr1 151051461 151051990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABPB2 chr11 51051634 51234864 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51051634 51234864 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51052000 134450000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A5,OR4C11,OR4C15,OR4C16,OR4C46,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 51052508 51234864 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51052508 51234864 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 151058060 151061421 Gain and loss Pancreatic cancer SNP array 17952125 GABPB2 chr11 51061717 60709290 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 APLNR,BTBD18,C11orf31,CCDC86,CLP1,CNTF,CTNND1,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LINC00301,LOC283194,LPXN,LRRC55,MED19,MIR130A,MIR3162,MPEG1,MRPL16,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4A15,OR4A16,OR4A5,OR4C11,OR4C15,OR4C16,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PLAC1L,PRG2,PRG3,PRPF19,PTGDR2,RTN4RL2,SERPING1,SLC15A3,SLC43A1,SLC43A3,SMTNL1,SSRP1,STX3,TCN1,TIMM10,TMEM109,TMEM132A,TMX2,TMX2-CTNND1,TNKS1BP1,TRIM48,TRIM51,TRIM51HP,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF,ZP1 chr1 151065147 151067289 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GABPB2 chr1 151065147 151067289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GABPB2 chr1 151065147 151067289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABPB2 chr11 51066417 51066757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 151074009 151074076 Gain and loss Pancreatic cancer SNP array 17952125 GABPB2 chr1 151081052 151081150 Gain and loss Pancreatic cancer SNP array 17952125 GABPB2 chr1 151083199 151083297 Gain and loss Pancreatic cancer SNP array 17952125 GABPB2 chr11 51094058 51213846 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr11 5109498 5110448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5109498 5110448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5109498 5110448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151106665 151110874 Gain and loss Pancreatic cancer SNP array 17952125 SEMA6C chr1 151113349 151136854 Gain and loss Pancreatic cancer SNP array 17952125 LYSMD1,SEMA6C,TNFAIP8L2,TNFAIP8L2-SCNM1 chr1 151117422 151124136 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SEMA6C chr1 151117422 151124136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA6C chr1 151117422 151124136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA6C chr1 151124291 151124353 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 51128235 51231280 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51128235 51231280 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51143501 51198000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 51146476 51166658 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 151147663 151150985 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMOD4,VPS72 chr1 151147663 151150985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMOD4,VPS72 chr1 151147663 151150985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMOD4,VPS72 chr11 51149570 51223510 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51149570 51223510 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51149570 51231280 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51149570 51231280 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51149570 51234864 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51149570 51234864 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51166498 51201688 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr11 51176074 51223510 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51176074 51223510 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51176074 51231280 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51176074 51231280 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51176074 51234864 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51176074 51234864 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51176165 51185360 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 151189097 152779829 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 C1orf68,C2CD4D,CELF3,CGN,CRCT1,CRNN,FLG,FLG2,HRNR,KPRP,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LINGO4,LOC100132111,MIR554,MRPL9,OAZ3,PI4KB,PIP5K1A,POGZ,PSMB4,PSMD4,RFX5,RIIAD1,RORC,RPTN,S100A10,S100A11,SELENBP1,SNX27,TCHH,TCHHL1,TDRKH,THEM4,THEM5,TUFT1,ZNF687 chr1 151190742 151253261 Gain and loss Pancreatic cancer SNP array 17952125 PIP5K1A,PSMD4 chr11 51197743 51219545 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 51197780 51219583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 51198001 51209500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 151199919 151200711 Gain and loss Pancreatic cancer SNP array 17952125 PIP5K1A chr11 51200170 51223510 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51200170 51223510 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51200170 51231280 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51200170 51231280 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 51204092 51219354 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 151208615 155645185 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 ADAM15,ADAR,AQP10,ASH1L,ASH1L-AS1,ATP8B2,C1orf189,C1orf43,C1orf68,C2CD4D,CELF3,CGN,CHRNB2,CHTOP,CKS1B,CLK2,CRCT1,CREB3L4,CRNN,CRTC2,DCST1,DCST2,DENND4B,DPM3,EFNA1,EFNA3,EFNA4,FAM189B,FDPS,FLAD1,FLG,FLG2,GATAD2B,GBA,GBAP1,HAX1,HCN3,HRNR,IL6R,ILF2,INTS3,IVL,JTB,KCNN3,KPRP,KRTCAP2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINGO4,LOC100132111,LOC100505666,LOR,MIR190B,MIR4258,MIR554,MIR555,MIR92B,MRPL9,MSTO1,MSTO2P,MTX1,MUC1,NPR1,NUP210L,OAZ3,PBXIP1,PGLYRP3,PGLYRP4,PI4KB,PIP5K1A,PKLR,PMVK,POGZ,POU5F1P4,PRR9,PSMB4,PSMD4,PYGO2,RAB13,RFX5,RIIAD1,RORC,RPS27,RPTN,RUSC1,RUSC1-AS1,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SELENBP1,SHC1,SHE,SLC27A3,SLC39A1,SLC50A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TPM3,TRIM46,TUFT1,UBAP2L,UBE2Q1,YY1AP1,ZBTB7B,ZNF687 chr11 51209501 51217000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 51209566 51213821 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 51209566 51213821 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 151209752 151211693 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIP5K1A chr1 151209752 151211693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIP5K1A chr1 151209752 151211693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIP5K1A chr1 151211170 151849318 LOH Normal High-resolution SNP genotyping 21211785 C2CD4D,CELF3,CGN,LINGO4,LOC100132111,MIR554,MRPL9,OAZ3,PI4KB,PIP5K1A,POGZ,PSMB4,PSMD4,RFX5,RIIAD1,RORC,SELENBP1,SNX27,TDRKH,THEM4,THEM5,TUFT1,ZNF687 chr1 151223181 151224913 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 151223181 151224913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151223181 151224913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 51223510 51449216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OR4A5 chr11 51231280 51449216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OR4A5 chr11 51231886 51421003 Gain Normal Birdsuite, version 1.5.2 22087296 OR4A5 chr1 151240762 151240937 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 151240847 151242955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151240847 151242955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151240849 151242956 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 151263062 151263360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF687 chr1 151265034 151287018 Gain and loss Pancreatic cancer SNP array 17952125 PI4KB chr11 51268024 51268971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 51268024 51268971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151270303 151271999 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PI4KB chr1 151270303 151271999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4KB chr1 151270303 151271999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KB chr1 151278098 151278197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PI4KB chr1 151278825 151281031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4KB chr1 151278825 151281031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KB chr1 151278833 151281031 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PI4KB chr1 151283002 151283081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PI4KB chr11 5128815 5164188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR52A5 chr11 5128815 5164188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR52A5 chr1 15128849 15133915 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KAZN chr11 5129237 5130175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151295223 151352588 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PI4KB,RFX5,SELENBP1 chr1 151295223 151352588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4KB,RFX5,SELENBP1 chr1 151295223 151352588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KB,RFX5,SELENBP1 chr1 1 51300000 Gain Metanephric adenoma Oligo aCGH 20802469 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DMBX1,DMRTA2,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRRC38,LRRC41,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NSUN4,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr1 1 51300000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DMBX1,DMRTA2,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRRC38,LRRC41,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NSUN4,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr1 1 51300000 Loss Glioblastoma multiforme conventional CGH 21080181 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DMBX1,DMRTA2,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRRC38,LRRC41,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NSUN4,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr11 51307642 51384376 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151308691 151333695 Gain and loss Pancreatic cancer SNP array 17952125 RFX5 chr1 151309328 151310735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151309328 151310735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151309328 151333608 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RFX5 chr1 15132449 15132650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KAZN chr1 151332235 151345284 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SELENBP1 chr1 151332235 151345284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SELENBP1 chr1 151332235 151345284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SELENBP1 chr1 151334124 151344193 Gain and loss Pancreatic cancer SNP array 17952125 SELENBP1 chr1 151351236 151352613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 151351236 151352613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151353330 151362156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151356738 151381369 Amplification or deletion Cancer Array CGH 17440070 POGZ,PSMB4 chr11 51357771 51357830 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 151365266 151365361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 151367611 151413547 Gain and loss Pancreatic cancer SNP array 17952125 POGZ,PSMB4 chr1 151370387 155734861 Gain Glioblastoma multiforme 244K oligo array 21138945 ADAM15,ADAR,AQP10,ASH1L,ASH1L-AS1,ATP8B2,C1orf189,C1orf43,C1orf68,C2CD4D,CELF3,CGN,CHRNB2,CHTOP,CKS1B,CLK2,CRCT1,CREB3L4,CRNN,CRTC2,DAP3,DCST1,DCST2,DENND4B,DPM3,EFNA1,EFNA3,EFNA4,FAM189B,FDPS,FLAD1,FLG,FLG2,GATAD2B,GBA,GBAP1,GON4L,HAX1,HCN3,HRNR,IL6R,ILF2,INTS3,IVL,JTB,KCNN3,KPRP,KRTCAP2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LINGO4,LOC100132111,LOC100505666,LOR,MIR190B,MIR4258,MIR554,MIR555,MIR92B,MRPL9,MSTO1,MSTO2P,MTX1,MUC1,NPR1,NUP210L,OAZ3,PBXIP1,PGLYRP3,PGLYRP4,PKLR,PMVK,POGZ,POU5F1P4,PRR9,PSMB4,PYGO2,RAB13,RIIAD1,RORC,RPS27,RPTN,RUSC1,RUSC1-AS1,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SHC1,SHE,SLC27A3,SLC39A1,SLC50A1,SMCP,SNAPIN,SNX27,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,TCHH,TCHHL1,TDRD10,TDRKH,THBS3,THEM4,THEM5,TPM3,TRIM46,TUFT1,UBAP2L,UBE2Q1,YY1AP1,ZBTB7B chr11 51371858 51372787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 51371858 51372787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 51371858 51372787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15137435 15186524 Gain and loss Pancreatic cancer SNP array 17952125 KAZN chr1 151379144 151379244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POGZ chr1 151379591 151390051 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 POGZ chr1 151379591 151390051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POGZ chr1 151379591 151390051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POGZ chr1 1 51400000 Loss Chordoma Array CGH 21602918 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DMBX1,DMRTA2,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRRC38,LRRC41,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NSUN4,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr1 151400331 151400587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POGZ chr1 151401736 151403684 Loss Normal 244K array 17666407 POGZ chr1 151406428 151407003 Loss Normal 244K array 17666407 POGZ chr11 51407954 51449216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OR4A5 chr1 151408925 151409880 Gain Normal 244K array 17666407 POGZ chr11 51409038 51449216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OR4A5 chr11 51420992 54530456 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 OR4C46 chr11 51423501 51450000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 151442543 151444220 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 151442543 151444220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151442543 151444220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151448915 151730075 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CELF3,CGN,MIR554,RIIAD1,SNX27,TUFT1 chr11 51450001 54542750 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR4C46 chr1 151456682 151457926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151456684 151458417 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 151464180 151465106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151480801 151485400 Deletion Glioma mate-paired sequence 20126413 CGN chr1 151482427 151483175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 5148336 5149029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5148336 5149029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151483923 151484956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CGN chr1 151492990 151655827 Gain and loss Pancreatic cancer SNP array 17952125 CGN,MIR554,SNX27,TUFT1 chr1 151498803 151501224 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CGN chr1 151498803 151501224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGN chr1 151498803 151501224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGN chr1 151499389 151499469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CGN chr11 51513584 51513674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 151536962 151549818 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TUFT1 chr1 151536962 151549818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUFT1 chr1 151536962 151549818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUFT1 chr11 5155520 5156359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5155520 5156359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151569220 151587940 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX27 chr1 151569220 151587940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151569220 151587940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151570722 151570828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151575111 152665210 LOH Normal High-resolution SNP genotyping 21211785 C2CD4D,CELF3,CRCT1,CRNN,FLG,FLG2,HRNR,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE5A,LINGO4,LOC100132111,MRPL9,OAZ3,RIIAD1,RORC,RPTN,S100A10,S100A11,SNX27,TCHH,TCHHL1,TDRKH,THEM4,THEM5 chr1 151575111 152796622 LOH Normal High-resolution SNP genotyping 21211785 C1orf68,C2CD4D,CELF3,CRCT1,CRNN,FLG,FLG2,HRNR,KPRP,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LINGO4,LOC100132111,MRPL9,OAZ3,RIIAD1,RORC,RPTN,S100A10,S100A11,SNX27,TCHH,TCHHL1,TDRKH,THEM4,THEM5 chr1 151596954 151600126 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX27 chr1 151596954 151600126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151596954 151600126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151602890 152517307 LOH Normal High-resolution SNP genotyping 21211785 C2CD4D,CELF3,CRCT1,CRNN,FLG,FLG2,HRNR,LCE5A,LINGO4,LOC100132111,MRPL9,OAZ3,RIIAD1,RORC,RPTN,S100A10,S100A11,SNX27,TCHH,TCHHL1,TDRKH,THEM4,THEM5 chr1 1 5160566 Amplification Cancer Affymetrix 250K Sty array 20164920 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr1 151609266 152546922 LOH Normal High-resolution SNP genotyping 21211785 C2CD4D,CELF3,CRCT1,CRNN,FLG,FLG2,HRNR,LCE3E,LCE5A,LINGO4,LOC100132111,MRPL9,OAZ3,RIIAD1,RORC,RPTN,S100A10,S100A11,SNX27,TCHH,TCHHL1,TDRKH,THEM4,THEM5 chr1 151612805 151614699 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX27 chr1 151612805 151614699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151612805 151614699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151618949 151620064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151629132 151630173 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX27 chr1 151629132 151630173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151629132 151630173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151635693 151635894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151645669 151678670 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CELF3,SNX27 chr1 151655624 151662325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX27 chr1 151655624 151662325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151655624 151662325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 1516649 1516747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 151666108 151667501 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX27 chr1 151666108 151667501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX27 chr1 151676095 151679127 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CELF3 chr1 151676095 151679127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELF3 chr1 151676095 151679127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF3 chr1 151694126 151720686 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIIAD1 chr1 151696844 151699761 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RIIAD1 chr1 151696844 151699761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIIAD1 chr1 151696844 151699761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIIAD1 chr1 15170831 15189849 Gain and loss Pancreatic cancer SNP array 17952125 KAZN chr1 151710279 151722540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151729466 151729541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 151729637 151741657 Gain and loss Pancreatic cancer SNP array 17952125 MRPL9,OAZ3 chr1 151739567 151739864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OAZ3 chr1 151742576 151747297 Gain and loss Pancreatic cancer SNP array 17952125 OAZ3,TDRKH chr1 151747848 151759913 Gain and loss Pancreatic cancer SNP array 17952125 TDRKH chr1 151748107 152258846 LOH Normal High-resolution SNP genotyping 21211785 C2CD4D,HRNR,LINGO4,LOC100132111,RORC,RPTN,S100A10,S100A11,TCHH,TCHHL1,TDRKH,THEM4,THEM5 chr1 151760230 151764795 Gain and loss Pancreatic cancer SNP array 17952125 TDRKH chr1 151761408 151761460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TDRKH chr1 151768890 151778660 Gain and loss Pancreatic cancer SNP array 17952125 LINGO4,RORC chr1 151772001 151808000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINGO4,RORC chr1 151773699 151775344 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINGO4 chr1 151773699 151775344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINGO4 chr1 151773699 151775344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINGO4 chr11 5177541 5178506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5177541 5178506 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5177541 5178506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151776247 151780865 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINGO4,RORC chr1 151776247 151780865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINGO4,RORC chr1 151776247 151780865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINGO4,RORC chr1 151779135 151779847 Gain and loss Pancreatic cancer SNP array 17952125 RORC chr1 151782713 151789236 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RORC chr1 151782713 151789236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORC chr1 151782713 151789236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORC chr1 151782718 151784906 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 RORC chr1 151786449 151788358 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RORC chr1 151786449 151788358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORC chr1 151786449 151788358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORC chr1 151788206 151802553 Gain and loss Pancreatic cancer SNP array 17952125 RORC chr11 518001 558000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf35,HRAS,LRRC56 chr1 151800220 151806990 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RORC chr1 151800220 151806990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORC chr1 151800220 151806990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORC chr1 151803000 161403000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADAM15,ADAMTS4,ADAR,AIM2,APCS,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,ATP1A2,ATP1A4,ATP8B2,B4GALT3,BCAN,BGLAP,C1orf189,C1orf192,C1orf204,C1orf43,C1orf61,C1orf68,C1orf85,C2CD4D,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DEDD,DENND4B,DPM3,DUSP23,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,F11R,FAM189B,FCER1A,FCER1G,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FDPS,FLAD1,FLG,FLG2,GATAD2B,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HAX1,HCN3,HDGF,HRNR,IFI16,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITLN1,ITLN2,IVL,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LMNA,LOC100131825,LOC100132111,LOC100505633,LOC100505666,LOC646268,LOR,LRRC71,LY9,MEF2D,MEX3A,MIR190B,MIR4258,MIR5187,MIR555,MIR765,MIR9-1,MIR92B,MNDA,MPZ,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NCSTN,NDUFS2,NES,NHLH1,NIT1,NPR1,NR1I3,NTRK1,NUP210L,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAQR6,PBXIP1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PGLYRP3,PGLYRP4,PIGM,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PPOX,PRCC,PRR9,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RHBG,RIT1,RORC,RPS27,RPTN,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SDHC,SEMA4A,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SSR2,SUMO1P3,SYT11,TAGLN2,TCHH,TCHHL1,TDRD10,THBS3,THEM4,THEM5,TMEM79,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,UBAP2L,UBE2Q1,UBQLN4,UFC1,USF1,USP21,VANGL2,VHLL,VSIG8,YY1AP1,ZBTB7B chr1 151804078 151819330 Gain and loss Pancreatic cancer SNP array 17952125 C2CD4D,LOC100132111,RORC chr1 151804354 152507814 LOH Normal High-resolution SNP genotyping 21211785 C2CD4D,CRCT1,CRNN,FLG,FLG2,HRNR,LCE5A,LOC100132111,RPTN,S100A10,S100A11,TCHH,TCHHL1,THEM4,THEM5 chr1 151807517 151807561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 15181789 15182464 Gain and loss Pancreatic cancer SNP array 17952125 KAZN chr1 151819373 151836479 Gain and loss Pancreatic cancer SNP array 17952125 THEM5 chr1 151820576 151820637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THEM5 chr1 151836835 151848325 Gain and loss Pancreatic cancer SNP array 17952125 THEM4 chr1 151845986 151852183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 THEM4 chr1 151845986 151852183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151845986 151852183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151846501 151857000 Copy number Normal ReadDepth: A Parallel R Package 21305028 THEM4 chr1 151849286 151855100 Gain and loss Pancreatic cancer SNP array 17952125 THEM4 chr11 518525 520251 Gain Normal 244K array 17666407 NOT_FOUND chr1 151853355 151856086 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 THEM4 chr1 151853355 151856086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151853355 151856086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151854812 151975757 Gain and loss Pancreatic cancer SNP array 17952125 S100A10,THEM4 chr1 151857001 152010000 Copy number Normal ReadDepth: A Parallel R Package 21305028 S100A10,S100A11,THEM4 chr1 151857899 151873192 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 THEM4 chr1 151857899 151873192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151857899 151873192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151864421 151873079 Gain and loss Pancreatic cancer SNP array 17952125 THEM4 chr1 151867173 151871137 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 THEM4 chr1 151867173 151871137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151867173 151871137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151873149 151884603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 THEM4 chr1 151873149 151885402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 151873149 151885402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THEM4 chr1 15187755 15224266 Gain and loss Pancreatic cancer SNP array 17952125 KAZN chr1 151880356 153088354 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C1orf68,CRCT1,CRNN,FLG,FLG2,HRNR,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,RPTN,S100A10,S100A11,SMCP,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2D,SPRR2E,SPRR2F,SPRR3,SPRR4,TCHH,TCHHL1,THEM4 chr1 151897777 151900929 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 151897824 151900929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151897824 151900929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151901136 151910103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151901136 151910103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151901137 151910103 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 151901139 151910103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 151906039 151906145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151906039 151906146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151908051 152127880 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RPTN,S100A10,S100A11,TCHH,TCHHL1 chr1 151913009 151920457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151917737 151933087 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 151917737 151933087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151917737 151933087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151921399 151924401 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151925442 151926077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151934093 151934362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151938268 151961933 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 S100A10 chr1 151940298 151959872 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 S100A10 chr1 151943188 151943480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151943188 151943483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151954959 151958886 Gain and loss Pancreatic cancer SNP array 17952125 S100A10 chr1 151956403 151957447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A10 chr1 151959433 151970518 Gain and loss Pancreatic cancer SNP array 17952125 S100A10 chr1 151961491 151961585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 S100A10 chr1 151965352 151965453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A10 chr1 151967167 152013179 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 S100A11 chr1 151967167 152013179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 S100A11 chr1 151967167 152013179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A11 chr1 151967679 152002565 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 151978454 151990763 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 151991563 151996686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5199160 5199745 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5199160 5199745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151993226 151993327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 151994248 151999125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 151994560 152541462 LOH Normal High-resolution SNP genotyping 21211785 CRCT1,CRNN,FLG,FLG2,HRNR,LCE3E,LCE5A,RPTN,S100A11,TCHH,TCHHL1 chr1 151996690 152000912 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152010001 152042000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 152011742 152013179 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152013454 152019257 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152013454 152019257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152013454 152019257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152013807 152014350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152015028 152018159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 152017317 152027534 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152021585 152546011 LOH Normal High-resolution SNP genotyping 21211785 CRCT1,CRNN,FLG,FLG2,HRNR,LCE3E,LCE5A,RPTN,TCHH,TCHHL1 chr11 5202254 5202445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152024820 152024921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152030070 152038347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5203271 5212434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5203272 5207201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5203272 5207201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152034273 152041191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152034273 152041191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152036356 152731034 Loss Normal 244K array 17666407 C1orf68,CRCT1,CRNN,FLG,FLG2,HRNR,KPRP,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,RPTN,TCHH,TCHHL1 chr1 152038844 152045268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152043826 152162075 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RPTN,TCHH,TCHHL1 chr1 152043829 152162075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPTN,TCHH,TCHHL1 chr1 152043829 152162075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPTN,TCHH,TCHHL1 chr1 152045729 152161848 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPTN,TCHH,TCHHL1 chr1 152045733 152056354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152048878 152054752 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 152055312 152055457 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 152057967 152061395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCHHL1 chr1 152059205 152059280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCHHL1 chr1 152060447 152072711 Gain and loss Pancreatic cancer SNP array 17952125 TCHHL1 chr1 152068483 152101049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCHH chr1 152072703 152084298 Gain and loss Pancreatic cancer SNP array 17952125 TCHH chr1 152091206 152092514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152091778 152103529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152099727 152104408 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152103791 152113976 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5210484 5212434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5210484 5212434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152119817 152345226 Gain and loss Pancreatic cancer SNP array 17952125 FLG,FLG2,HRNR,RPTN chr1 152124320 152124405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 152129695 152129962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPTN chr1 152141576 152141682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152157134 152157234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 152162001 152217000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HRNR chr1 152168601 152185796 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HRNR chr1 152168601 152185796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HRNR chr1 152186775 152197725 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HRNR chr1 152186775 152197725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HRNR chr1 152186775 152197725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HRNR chr1 152198199 152206812 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152198210 152206812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152198210 152206812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5219926 5221343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51V1 chr1 152202261 152202364 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152207003 152213463 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152207003 152213463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152207003 152213463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152213368 152217075 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 152213369 152217075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152213369 152217075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152213373 152217075 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152216044 152217126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152220756 152225430 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152220756 152225430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152220756 152225430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 522241 525550 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 522241 525550 Gain or loss Cancer - 20668451 NOT_FOUND chr11 522241 525550 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 522241 525550 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 522241 525550 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 522241 525550 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 522242 525591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 522242 525591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152227336 152228592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 152229853 152231245 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152229862 152231245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152229862 152231245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152231790 152394216 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRNN,FLG,FLG2 chr1 152231790 152394216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRNN,FLG,FLG2 chr1 152231790 152394216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRNN,FLG,FLG2 chr1 152237178 152237249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 52242 52550 Copy number Autism exome sequencing 22495311 NOT_FOUND chr1 15224605 15292178 Gain and loss Pancreatic cancer SNP array 17952125 KAZN chr11 5226082 5227664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5226089 5227693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5226089 5227693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5226089 5227693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 522635 524322 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr1 152274650 152297679 Copy number Atopic - 22158606 FLG chr1 152279016 152279122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLG chr11 5228247 5230232 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 152284792 152959205 LOH Normal High-resolution SNP genotyping 21211785 C1orf68,CRCT1,CRNN,FLG,FLG2,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,SMCP,SPRR1A,SPRR4 chr11 5229383 5229483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 152295989 152296089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLG chr1 1523001 1531500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 5230996 5623595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HBB,HBBP1,HBD,HBE1,HBG1,HBG2,OR51B2,OR51B4,OR51B5,OR51B6,OR51I1,OR51I2,OR51M1,OR51Q1,OR52B6,OR52D1,OR52H1,TRIM6,TRIM6-TRIM34,UBQLN3,UBQLNL chr11 5230996 5623595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HBB,HBBP1,HBD,HBE1,HBG1,HBG2,OR51B2,OR51B4,OR51B5,OR51B6,OR51I1,OR51I2,OR51M1,OR51Q1,OR52B6,OR52D1,OR52H1,TRIM6,TRIM6-TRIM34,UBQLN3,UBQLNL chr11 5230997 5232588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5231008 5232617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152317966 152319058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152356064 152356137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152375215 152379476 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr1 152387127 152421647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 152393080 152533178 Gain and loss Pancreatic cancer SNP array 17952125 CRCT1,LCE5A chr1 152394403 152431233 Translate Anaplastic large cell lymphoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr1 152394403 152431233 Translate Papillary thyroid carcinoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr1 152394404 152431233 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152394404 152431233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152394404 152431233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152405347 152405649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152410411 152420375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152432765 152432843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152438486 152445523 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152438486 152445523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152438486 152445523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152442307 152471864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152445806 152459897 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 152445807 152459728 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 152445807 152459897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152445807 152459897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152448512 153060422 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf68,CRCT1,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,SMCP,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2D,SPRR3,SPRR4 chr1 152459279 152510019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRCT1,LCE5A chr1 152459279 152510019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRCT1,LCE5A chr1 152459279 152510019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRCT1,LCE5A chr11 5246158 5483423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HBB,HBBP1,HBD,HBE1,HBG1,HBG2,OR51B2,OR51B4,OR51B5,OR51B6,OR51I1,OR51I2,OR51M1,OR51Q1 chr11 5246158 5483423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HBB,HBBP1,HBD,HBE1,HBG1,HBG2,OR51B2,OR51B4,OR51B5,OR51B6,OR51I1,OR51I2,OR51M1,OR51Q1 chr11 5246160 5247964 Gain and loss Pancreatic cancer SNP array 17952125 HBB chr1 152466908 152486582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LCE5A chr1 152469767 152484645 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LCE5A chr1 152471947 152521390 Gain and loss Pancreatic cancer SNP array 17952125 CRCT1,LCE5A chr1 152495841 152540597 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LCE3E chr1 152498827 152498962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152511663 152514973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152511663 152514973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152532583 152640081 Gain and loss Pancreatic cancer SNP array 17952125 LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E chr1 152534589 152534701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152536736 152536848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152536750 152536848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152560216 152564425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152560216 152564425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152564654 152590403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCE3B,LCE3C chr1 152564654 152590403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCE3B,LCE3C chr1 152611898 157344161 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-258K arrays 21546498 ADAM15,ADAR,APOA1BP,AQP10,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,ATP8B2,BCAN,BGLAP,C1orf189,C1orf43,C1orf61,C1orf68,C1orf85,CCT3,CHRNB2,CHTOP,CKS1B,CLK2,CRABP2,CREB3L4,CRTC2,CYCSP52,DAP3,DCST1,DCST2,DENND4B,DPM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,FAM189B,FDPS,FLAD1,GATAD2B,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HAX1,HCN3,HDGF,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,IVL,JTB,KCNN3,KIAA0907,KPRP,KRTCAP2,LAMTOR2,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE4A,LCE6A,LELP1,LENEP,LMNA,LOC100505666,LOR,LRRC71,MEF2D,MEX3A,MIR190B,MIR4258,MIR555,MIR765,MIR9-1,MIR92B,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NES,NPR1,NTRK1,NUP210L,PAQR6,PBXIP1,PEAR1,PGLYRP3,PGLYRP4,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PRCC,PRR9,PYGO2,RAB13,RAB25,RHBG,RIT1,RPS27,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SEMA4A,SH2D2A,SHC1,SHE,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMCP,SMG5,SNAPIN,SNORA42,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SSR2,SYT11,TDRD10,THBS3,TMEM79,TPM3,TRIM46,TSACC,TTC24,UBAP2L,UBE2Q1,UBQLN4,VHLL,YY1AP1,ZBTB7B chr1 152616058 152618377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152617307 152618189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152617307 152618189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5263623 5263707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HBBP1 chr1 15263630 15264240 Gain and loss Pancreatic cancer SNP array 17952125 KAZN chr1 152642373 152667910 Gain and loss Pancreatic cancer SNP array 17952125 LCE2B,LCE2C chr1 152644001 152646500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 152644293 152706812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf68,LCE2A,LCE2B,LCE2C,LCE4A chr1 152644293 152706812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf68,LCE2A,LCE2B,LCE2C,LCE4A chr1 152646501 153175500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf68,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE4A,LCE6A,SMCP,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4 chr1 152649422 152649522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 152653469 152654237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152677145 152677250 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152682966 152694199 Gain and loss Pancreatic cancer SNP array 17952125 C1orf68 chr1 152692888 153060422 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf68,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE6A,SMCP,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2D,SPRR3,SPRR4 chr11 5269567 5270186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HBG1 chr1 152696985 152717263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152702773 152702906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152708822 152708950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152718550 152718650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 152718581 152741213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KPRP chr1 152718581 152741213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KPRP chr1 152724574 152725698 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152729719 152761391 Gain and loss Pancreatic cancer SNP array 17952125 KPRP,LCE1E,LCE1F chr1 152741319 152787247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCE1B,LCE1C,LCE1D,LCE1E,LCE1F chr1 152741319 152787247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCE1B,LCE1C,LCE1D,LCE1E,LCE1F chr1 152749308 152749408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LCE1F chr11 527527 544913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HRAS,LRRC56 chr11 527527 544913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HRAS,LRRC56 chr1 152787674 152797744 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 152787675 152797744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152787675 152797744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5278820 5279752 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5278820 5279802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5278820 5279802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152791913 152803800 Gain and loss Pancreatic cancer SNP array 17952125 LCE1A chr1 152806881 152818975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCE6A chr1 152806881 152818975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCE6A chr1 152818166 152836589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152821157 152867061 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 SMCP chr1 152821162 152867098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMCP chr1 152821162 152867098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMCP chr1 152837678 152841367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152844039 152853366 Gain and loss Pancreatic cancer SNP array 17952125 SMCP chr1 15289005 15289090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KAZN chr1 152892256 152896896 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 152897571 152922944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 52900000 134452384 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Amplification Normal - 22101487 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Deletion Esophageal squamous carcinoma CGH 21637470 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Deletion Neuroblastoma FISH 21484798 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Gain Esophageal squamous carcinoma CGH 21637470 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Gain Ewing's sarcoma Reference 21437220 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Gain Oral cancer 105K CGH oligonucleotide array 21386901 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Gain or loss Endometrial cancer CGH 22040021 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 LOH Breast cancer Illumina 110K SNP array 20837533 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Loss Breast cancer aCGH 21264507 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Loss Cervical cancer array CGH 21063398 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Loss Glioblastoma multiforme CGH 19960244 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Loss Liposarcoma FISH, CGH 21253554 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 134452384 Loss Neuroblastoma - 18923524 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 52900000 56400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 52900000 56400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 52900000 56400000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 52900000 59700000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 APLNR,BTBD18,C11orf31,CLP1,CNTF,CTNND1,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,LRRC55,MED19,MIR130A,MIR3162,MPEG1,MRPL16,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,STX3,TCN1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,TRIM48,TRIM51,TRIM51HP,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF chr11 52900000 76700000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,APLNR,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CLCF1,CLP1,CLPB,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTNND1,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283194,LOC283214,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR611,MIR612,MOGAT2,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PATL1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SMTNL1,SNHG1,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TPBGL,TPCN2,TRIM48,TRIM51,TRIM51HP,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,UBE2L6,UBXN1,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr1 15290873 15290973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KAZN chr11 5292578 5293490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 152932883 152960607 Gain and loss Pancreatic cancer SNP array 17952125 SPRR1A,SPRR4 chr1 152946541 153109378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2D,SPRR2E,SPRR2F,SPRR3 chr1 152946541 153109378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2D,SPRR2E,SPRR2F,SPRR3 chr1 152959805 154321968 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,ILF2,INTS3,JTB,LELP1,LOR,MIR190B,NPR1,NUP210L,PGLYRP3,PGLYRP4,PRR9,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SLC27A3,SLC39A1,SNAPIN,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,TPM3,UBAP2L chr1 152976951 152995659 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 152977454 154872532 LOH Normal High-resolution SNP genotyping 21211785 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,KCNN3,LELP1,LOR,MIR190B,NPR1,NUP210L,PGLYRP3,PGLYRP4,PRR9,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 152995873 153026185 Gain and loss Pancreatic cancer SNP array 17952125 SPRR1B,SPRR2D chr1 15300000 153300000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM30,ADAMTSL4,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CRNN,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A10,S100A11,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 153300000 Amplification Non-small cell lung cancer - 21385341 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM30,ADAMTSL4,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CRNN,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A10,S100A11,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 153300000 Copy number Autosomal dominant nocturnal frontal lobe epilepsy - 18472482 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM30,ADAMTSL4,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CRNN,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A10,S100A11,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 153300000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM30,ADAMTSL4,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CRNN,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A10,S100A11,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 153300000 Gain Non-small cell lung cancer In situ minichips 20864512 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM30,ADAMTSL4,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CRNN,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A10,S100A11,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 153300000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM30,ADAMTSL4,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CRNN,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A10,S100A11,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 153300000 Microdeletion Thrombocytopenia-absent radius syndrome - 21933853 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM30,ADAMTSL4,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CRNN,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A10,S100A11,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 154800000 Gain Ewing's sarcoma CGH(Reference) 21437220 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM30,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,AQP10,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CREB3L4,CRNN,CROCC,CROCCP2,CROCCP3,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GATAD2B,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAX1,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,IL6R,ILF2,INADL,INPP5B,INSL5,INTS3,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNN3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NPR1,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,NUP210L,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB13,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHE,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 163800000 Amplification Liposarcoma FISH, CGH 21253554 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF19,ARHGEF2,ARID1A,ARNT,ARTN,ASAP3,ASB17,ASH1L,ASH1L-AS1,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf110,C1orf111,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf213,C1orf216,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CADM3,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD48,CD52,CD53,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DBT,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,ETV3,ETV3L,EVI5,EXTL1,EXTL2,EYA3,F11R,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IGSF8,IGSF9,IL12RB2,IL22RA1,IL23R,IL28RA,IL6R,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KIRREL,KLF17,KLHDC7A,KLHDC9,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEX3A,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4654,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPL,MPZ,MRPL24,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR0B2,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR6,PAQR7,PARS2,PAX7,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGM,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R8,PPT1,PQLC2,PRCC,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RGS4,RGS5,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA4,SCMH1,SCNM1,SCP2,SDC3,SDHB,SDHC,SEC22B,SELENBP1,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SUMO1P3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAGLN2,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TOMM40L,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,YY1AP1,ZBTB17,ZBTB40,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 163800000 Amplification Non-small cell lung cancer - 21385341 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF19,ARHGEF2,ARID1A,ARNT,ARTN,ASAP3,ASB17,ASH1L,ASH1L-AS1,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf110,C1orf111,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf213,C1orf216,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CADM3,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD48,CD52,CD53,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DBT,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,ETV3,ETV3L,EVI5,EXTL1,EXTL2,EYA3,F11R,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IGSF8,IGSF9,IL12RB2,IL22RA1,IL23R,IL28RA,IL6R,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KIRREL,KLF17,KLHDC7A,KLHDC9,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEX3A,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4654,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPL,MPZ,MRPL24,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR0B2,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR6,PAQR7,PARS2,PAX7,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGM,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R8,PPT1,PQLC2,PRCC,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RGS4,RGS5,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA4,SCMH1,SCNM1,SCP2,SDC3,SDHB,SDHC,SEC22B,SELENBP1,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SUMO1P3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAGLN2,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TOMM40L,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,YY1AP1,ZBTB17,ZBTB40,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 163800000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF19,ARHGEF2,ARID1A,ARNT,ARTN,ASAP3,ASB17,ASH1L,ASH1L-AS1,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf110,C1orf111,C1orf122,C1orf123,C1orf126,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf213,C1orf216,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CADM3,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD48,CD52,CD53,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DBT,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,ETV3,ETV3L,EVI5,EXTL1,EXTL2,EYA3,F11R,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IGSF8,IGSF9,IL12RB2,IL22RA1,IL23R,IL28RA,IL6R,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KIRREL,KLF17,KLHDC7A,KLHDC9,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEX3A,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4654,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPL,MPZ,MRPL24,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR0B2,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR6,PAQR7,PARS2,PAX7,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGM,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R8,PPT1,PQLC2,PRCC,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RGS4,RGS5,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA4,SCMH1,SCNM1,SCP2,SDC3,SDHB,SDHC,SEC22B,SELENBP1,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SUMO1P3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAGLN2,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TOMM40L,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,YY1AP1,ZBTB17,ZBTB40,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 184000000 Gain Hepatocellular carcinoma Array CGH 16750200 ABCA4,ABCD3,ABL2,ACADM,ACBD6,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF19,ARHGEF2,ARID1A,ARNT,ARPC5,ARTN,ASAP3,ASB17,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AXDND1,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf105,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf122,C1orf123,C1orf126,C1orf129,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CACNA1E,CACYBP,CADM3,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD52,CD53,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPL,CEP350,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DHX9,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,DUSP27,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,ETV3,ETV3L,EVI5,EXTL1,EXTL2,EYA3,F11R,F3,F5,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM5B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM91A2,FASLG,FBLIM1,FBXO42,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLT25D2,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR161,GPR3,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IGSF8,IGSF9,IL12RB2,IL22RA1,IL23R,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1614,KIF17,KIF2C,KIFAP3,KIRREL,KLF17,KLHDC7A,KLHDC9,KLHL20,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX4,LHX8,LIN28A,LINC00272,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMO4,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC149086,LOC284551,LOC284632,LOC284648,LOC284688,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC400794,LOC402779,LOC440600,LOC440700,LOC643355,LOC643441,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOC730102,LOC730159,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFSD2A,MGC27382,MGST3,MIER1,MINOS1,MIR101-1,MIR1262,MIR1295A,MIR1295B,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR199A2,MIR214,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR320B1,MIR3605,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4424,MIR4654,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR488,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOC,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR0B2,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAPPA2,PAQR6,PAQR7,PARS2,PAX7,PBX1,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R8,PPT1,PQLC2,PRCC,PRDX1,PRDX6,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB42,RABGAP1L,RABGGTB,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCSD1,REG4,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SOAT1,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAGLN2,TAL1,TARS2,TAS1R2,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TIPRL,TM2D1,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI3K,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,VAMP4,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YRDC,YTHDF2,YY1AP1,ZBTB17,ZBTB37,ZBTB40,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 212100000 Gain Liposarcoma FISH, CGH 21253554 ABCA4,ABCD3,ABL2,ACADM,ACBD6,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF19,ARHGEF2,ARID1A,ARL8A,ARNT,ARPC5,ARTN,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AVPR1B,AXDND1,B3GALT2,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf116,C1orf122,C1orf123,C1orf126,C1orf129,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf228,C1orf27,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf74,C1orf85,C1orf87,C1orf88,C1orf94,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMK2N1,CAMSAP2,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPL,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHI3L2,CHIA,CHIT1,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,CNTN2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DDX59,DEDD,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DHX9,DIEXF,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DSTYK,DUSP12,DUSP23,DUSP27,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDEM3,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,ETNK2,ETV3,ETV3L,EVI5,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM91A2,FASLG,FBLIM1,FBXO42,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GADD45A,GALE,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLRX2,GLT25D2,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHAT,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF6,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,IVNS1ABP,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNN3,KCNQ4,KCNT2,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1614,KIF14,KIF17,KIF21B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL20,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGR6,LHX4,LHX8,LHX9,LIN28A,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC148696,LOC148709,LOC149086,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284688,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MAPKAPK2,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFSD2A,MFSD4,MGC27382,MGST3,MIER1,MINOS1,MIR101-1,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR181A1,MIR181B1,MIR186,MIR190B,MIR197,MIR1976,MIR199A2,MIR205,MIR205HG,MIR214,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR320B1,MIR3605,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR4420,MIR4422,MIR4423,MIR4424,MIR4654,MIR4684,MIR4695,MIR4711,MIR4735,MIR4781,MIR4794,MIR488,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUL1,MUTYH,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAPPA2,PAQR6,PAQR7,PARS2,PAX7,PBX1,PBXIP1,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLEKHA6,PLEKHM2,PLEKHO1,PLK3,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPT1,PQLC2,PRCC,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB42,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM8A,RBMXL1,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF19B,RNF2,RNF220,RNPC3,RNPEP,RNU11,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAGLN2,TAL1,TARS2,TAS1R2,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM81,TMEM82,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2T,UBE2U,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,VAMP4,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 212100000 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 ABCA4,ABCD3,ABL2,ACADM,ACBD6,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF19,ARHGEF2,ARID1A,ARL8A,ARNT,ARPC5,ARTN,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AVPR1B,AXDND1,B3GALT2,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf116,C1orf122,C1orf123,C1orf126,C1orf129,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf228,C1orf27,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf74,C1orf85,C1orf87,C1orf88,C1orf94,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMK2N1,CAMSAP2,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPL,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHI3L2,CHIA,CHIT1,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,CNTN2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DDX59,DEDD,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DHX9,DIEXF,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DSTYK,DUSP12,DUSP23,DUSP27,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDEM3,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,ETNK2,ETV3,ETV3L,EVI5,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM91A2,FASLG,FBLIM1,FBXO42,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GADD45A,GALE,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLRX2,GLT25D2,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHAT,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF6,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,IVNS1ABP,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNN3,KCNQ4,KCNT2,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1614,KIF14,KIF17,KIF21B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL20,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGR6,LHX4,LHX8,LHX9,LIN28A,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC148696,LOC148709,LOC149086,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284688,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MAPKAPK2,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFSD2A,MFSD4,MGC27382,MGST3,MIER1,MINOS1,MIR101-1,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR181A1,MIR181B1,MIR186,MIR190B,MIR197,MIR1976,MIR199A2,MIR205,MIR205HG,MIR214,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR320B1,MIR3605,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR4420,MIR4422,MIR4423,MIR4424,MIR4654,MIR4684,MIR4695,MIR4711,MIR4735,MIR4781,MIR4794,MIR488,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUL1,MUTYH,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAPPA2,PAQR6,PAQR7,PARS2,PAX7,PBX1,PBXIP1,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLEKHA6,PLEKHM2,PLEKHO1,PLK3,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPT1,PQLC2,PRCC,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB42,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM8A,RBMXL1,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF19B,RNF2,RNF220,RNPC3,RNPEP,RNU11,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAGLN2,TAL1,TARS2,TAS1R2,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM81,TMEM82,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2T,UBE2U,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,VAMP4,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15300000 247249719 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACBD3,ACBD6,ACOT11,ACP6,ACTA1,ACTG1P4,ACTL8,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,ADSS,AGBL4,AGL,AGMAT,AGT,AHCTF1,AHCYL1,AHDC1,AIDA,AIM1L,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,AKT3,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF19,ARHGEF2,ARID1A,ARID4B,ARL8A,ARNT,ARPC5,ARTN,ARV1,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf100,C1orf101,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf126,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf27,C1orf31,C1orf35,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf65,C1orf68,C1orf74,C1orf85,C1orf87,C1orf88,C1orf94,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMK2N1,CAMSAP2,CAP1,CAPN2,CAPN8,CAPN9,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCSAP,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPF,CENPL,CEP170,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CMPK1,CNIH3,CNIH4,CNKSR1,CNN3,CNR2,CNST,CNTN2,COG2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,COX20,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DDX59,DEDD,DEGS1,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DESI2,DHCR24,DHDDS,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDARADD,EDEM3,EDN2,EFCAB2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENAH,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ERO1LB,ESPNP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM177B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM89A,FAM91A2,FASLG,FBLIM1,FBXO28,FBXO42,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FH,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GADD45A,GALE,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG4,GNG5,GNL2,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR137B,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GREM2,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HNRNPU,HNRNPU-AS1,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,IARS2,IBA57,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1522,KIAA1614,KIAA1804,KIF14,KIF17,KIF21B,KIF26B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN28A,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130093,LOC100130331,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506795,LOC100506801,LOC100506810,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC148696,LOC148709,LOC149086,LOC149134,LOC149373,LOC255654,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284688,LOC339442,LOC339505,LOC339524,LOC339529,LOC339535,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728463,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,LYST,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP1LC3C,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFSD2A,MFSD4,MGC27382,MGST3,MIA3,MIER1,MINOS1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR3605,MIR3620,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR4420,MIR4422,MIR4423,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4684,MIR4695,MIR4711,MIR4735,MIR4742,MIR4753,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTR,MTX1,MUC1,MUL1,MUTYH,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NID1,NIPAL3,NIT1,NKAIN1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPN3,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAPPA2,PAQR6,PAQR7,PARP1,PARS2,PAX7,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLD5,PLEKHA6,PLEKHM2,PLEKHO1,PLK3,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PQLC2,PRCC,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RHOU,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF187,RNF19B,RNF2,RNF220,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS7P5,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDCCAG8,SDE2,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMPDL3B,SMYD2,SMYD3,SNAP47,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA14B,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA21,SPATA6,SPEN,SPHAR,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRG7,SRGAP2,SRGAP2B,SRP9,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARBP1,TARS2,TAS1R2,TATDN3,TBCE,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TFB2M,TGFB2,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM206,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM63A,TMEM69,TMEM79,TMEM81,TMEM82,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIM67,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC13,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2T,UBE2U,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,URB2,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,USP48,UTP11L,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR26,WDR3,WDR47,WDR63,WDR64,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT3A,WNT4,WNT9A,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF238,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF683,ZNF684,ZNF687,ZNF691,ZNF695,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 5300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr1 1 5300000 Gain Normal Human genome CGH 60k ARRAY PLATFORM 22144094 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr1 1 5300000 Gain Williams-beuren syndrome ABI Prism 7900HT sequence detection system 16971481 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr11 5300130 5301189 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 15300390 15300490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KAZN chr11 5301165 5302103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5301165 5302103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5301165 5302103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153014453 153014553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5301537 5330231 Gain and loss Pancreatic cancer SNP array 17952125 OR51B4 chr11 5301537 5330252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B4 chr11 5301537 5330252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B4 chr1 153019011 173757922 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ADAM15,ADAMTS4,ADAR,ADCY10,AIM2,ALDH9A1,ANKRD36BP1,ANKRD45,APCS,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,B4GALT3,BCAN,BGLAP,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf61,C1orf85,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CREB3L4,CREG1,CRP,CRTC2,CYCSP52,DAP3,DARC,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,F11R,F5,FAM189B,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GATAD2B,GBA,GBAP1,GON4L,GORAB,GPA33,GPATCH4,GPR161,HAPLN2,HAX1,HCN3,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITLN1,ITLN2,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIFAP3,KIRREL,KLHDC9,KLHL20,KRTCAP2,LAMTOR2,LELP1,LENEP,LINC00626,LMNA,LMX1A,LOC100131825,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC284688,LOC400794,LOC440700,LOC646268,LOC730159,LOR,LRRC52,LRRC71,LY9,MAEL,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR4258,MIR4654,MIR5187,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MNDA,MPC2,MPZ,MPZL1,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,MYOC,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NOS1AP,NPR1,NR1I3,NTRK1,NUF2,NUP210L,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAQR6,PBX1,PBXIP1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PGLYRP3,PGLYRP4,PIGC,PIGM,PKLR,PMF1,PMF1-BGLAP,PMVK,POGK,POU2F1,POU5F1P4,PPOX,PRCC,PRDX6,PRR9,PRRC2C,PRRX1,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RCSD1,RGS4,RGS5,RHBG,RIT1,RPL31P11,RPS27,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SCYL3,SDHC,SELE,SELL,SELP,SEMA4A,SFT2D2,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMG5,SNAPIN,SNORA42,SPRR2A,SPRR2B,SPRR2C,SPRR2E,SPRR2F,SPRR2G,SPTA1,SSR2,SUCO,SUMO1P3,SYT11,TADA1,TAGLN2,TBX19,TDRD10,THBS3,TIPRL,TMCO1,TMEM79,TNFSF18,TNFSF4,TOMM40L,TOP1P1,TPM3,TRIM46,TSACC,TSTD1,TTC24,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VSIG8,XCL1,XCL2,YY1AP1,ZBTB7B chr1 153026280 153030920 Gain and loss Pancreatic cancer SNP array 17952125 SPRR2A chr1 153032090 153065689 Gain and loss Pancreatic cancer SNP array 17952125 SPRR2B,SPRR2E chr1 153065812 153075307 Gain and loss Pancreatic cancer SNP array 17952125 SPRR2E chr1 153074735 155132913 LOH Normal High-resolution SNP genotyping 21211785 ADAM15,ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CKS1B,CREB3L4,CRTC2,DCST1,DCST2,DENND4B,DPM3,EFNA1,EFNA3,EFNA4,FLAD1,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,KCNN3,LELP1,LENEP,LOC100505666,LOR,MIR190B,MIR4258,NPR1,NUP210L,PBXIP1,PGLYRP3,PGLYRP4,PMVK,PRR9,PYGO2,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHC1,SHE,SLC27A3,SLC39A1,SLC50A1,SNAPIN,SPRR2C,SPRR2F,SPRR2G,TDRD10,TPM3,UBAP2L,UBE2Q1,ZBTB7B chr1 153075552 153078536 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153077529 154608829 LOH Normal High-resolution SNP genotyping 21211785 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,LELP1,LOR,MIR190B,NPR1,NUP210L,PGLYRP3,PGLYRP4,PRR9,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,SPRR2C,SPRR2F,SPRR2G,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 153077897 154465414 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,LELP1,LOR,MIR190B,NPR1,NUP210L,PGLYRP3,PGLYRP4,PRR9,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,SPRR2C,SPRR2F,SPRR2G,TPM3,UBAP2L chr1 153077897 154482120 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,LELP1,LOR,MIR190B,NPR1,NUP210L,PGLYRP3,PGLYRP4,PRR9,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,SPRR2C,SPRR2F,SPRR2G,TDRD10,TPM3,UBAP2L chr1 153081496 153082014 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5308398 5309166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1 5308621 Deletion Normal - 21701786 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr1 153091835 153121139 Gain and loss Pancreatic cancer SNP array 17952125 SPRR2C chr1 153120176 153129853 Gain and loss Pancreatic cancer SNP array 17952125 SPRR2G chr1 1531501 1541500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf233 chr1 15315035 15351547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAZN chr1 153152076 153168082 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153163835 153176108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LELP1 chr1 153163835 153176108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LELP1 chr1 153175501 153300500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LELP1,LOR,PGLYRP3,PRR9 chr1 153183176 153195221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR9 chr1 153183176 153195221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR9 chr11 5318434 5318534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 153186430 154206631 LOH Normal High-resolution SNP genotyping 21211785 C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,ILF2,INTS3,JTB,LOR,MIR190B,NPR1,NUP210L,PGLYRP3,PGLYRP4,PRR9,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SLC27A3,SLC39A1,SNAPIN,TPM3,UBAP2L chr1 153186430 154425364 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,LOR,MIR190B,NPR1,NUP210L,PGLYRP3,PGLYRP4,PRR9,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SLC27A3,SLC39A1,SNAPIN,TPM3,UBAP2L chr1 153187122 153212294 Gain and loss Pancreatic cancer SNP array 17952125 PRR9 chr1 153190000 154640000 Gain Acute lymphoblastic leukemia - 21339820 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,LOR,MIR190B,NPR1,NUP210L,PGLYRP3,PGLYRP4,PRR9,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 153196125 153200882 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 153196127 153201136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153196127 153201136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153201397 153213464 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 153201397 153213464 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 153201397 153213464 Gain or loss Cancer - 20668451 NOT_FOUND chr1 153201397 153213464 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 153201397 153213464 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 153201397 153213464 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 153201397 153213464 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 153201398 153213476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153201398 153213476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153203206 153203294 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5320392 5321330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5320392 5321330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5320392 5321330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153212000 162812000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADAM15,ADAMTS4,ADAR,AIM2,APCS,APOA1BP,APOA2,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,ATP8B2,B4GALT3,BCAN,BGLAP,C1orf111,C1orf189,C1orf192,C1orf204,C1orf226,C1orf43,C1orf61,C1orf85,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CREB3L4,CRP,CRTC2,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND4B,DPM3,DUSP12,DUSP23,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,F11R,FAM189B,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,GATAD2B,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HAX1,HCN3,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,IL6R,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITLN1,ITLN2,JTB,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KRTCAP2,LAMTOR2,LENEP,LMNA,LOC100131825,LOC100505633,LOC100505666,LOC646268,LOR,LRRC71,LY9,MEF2D,MEX3A,MIR190B,MIR4258,MIR4654,MIR5187,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MNDA,MPZ,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NPR1,NR1I3,NTRK1,NUP210L,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAQR6,PBXIP1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PGLYRP3,PGLYRP4,PIGM,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PPOX,PRCC,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RHBG,RIT1,RPL31P11,RPS27,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA4,SDHC,SEMA4A,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SMG5,SNAPIN,SNORA42,SPTA1,SSR2,SUMO1P3,SYT11,TAGLN2,TDRD10,THBS3,TMEM79,TOMM40L,TPM3,TRIM46,TSACC,TSTD1,TTC24,UAP1,UBAP2L,UBE2Q1,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VSIG8,YY1AP1,ZBTB7B chr1 153213753 153218348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153213753 153218348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153213790 153218346 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 153222440 153232211 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 LOR chr1 153222441 153232211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOR chr1 153222441 153232211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOR chr11 5322268 5359910 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR51B2,OR51B4 chr11 532242 535550 Gain Spitz naevi FISH 22211292 HRAS chr11 5322821 5322921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR51B4 chr1 153232686 153233414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOR chr1 153232686 153233414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOR chr1 153241736 153257622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153241736 153257622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153246593 153283618 Gain and loss Pancreatic cancer SNP array 17952125 PGLYRP3 chr1 153257627 153272881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP3 chr1 153257627 153272881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP3 chr1 153266384 153266487 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 153266965 153267075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153272923 153289968 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 PGLYRP3 chr1 153272924 153290030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP3 chr1 153272924 153290030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP3 chr1 1532822 1555331 Gain and loss Pancreatic cancer SNP array 17952125 C1orf233,MIB2 chr1 153287909 154308658 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SLC27A3,SLC39A1,SNAPIN,TPM3,UBAP2L chr1 153290386 153301876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153290386 153301876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153293530 154482120 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L chr1 153297208 154373978 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SLC27A3,SLC39A1,SNAPIN,TPM3,UBAP2L chr1 153300000 154800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,KCNN3,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 153300000 154800000 Gain Follicular lymphoma aCGH 20505157 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,KCNN3,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 153300000 154800000 Gain Glioblastoma multiforme aCGH 21080181 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,KCNN3,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 153300000 154800000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,KCNN3,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 153300000 154800000 Gain Multiple myeloma CGH, FISH 16461302 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,KCNN3,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 153300000 197500000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABL2,ACBD6,ADAM15,ADAMTS4,ADAR,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,APCS,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP30,ARHGEF11,ARHGEF2,ARPC5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP8B2,AXDND1,B3GALT2,B4GALT3,BCAN,BGLAP,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf189,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf43,C1orf61,C1orf85,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,CDC73,CENPL,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHRNB2,CHTOP,CKS1B,CLK2,COPA,CRABP2,CRB1,CREB3L4,CREG1,CRP,CRTC2,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DEDD,DENND1B,DENND4B,DHX9,DNM3,DNM3OS,DPM3,DPT,DUSP12,DUSP23,DUSP27,EDEM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,F11R,F13B,F5,FAM129A,FAM163A,FAM189B,FAM20B,FAM5B,FAM5C,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GLRX2,GLT25D2,GLUL,GM140,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,HAPLN2,HAX1,HCN3,HDGF,HMCN1,HSD17B7,HSPA6,HSPA7,IER5,IFI16,IGSF8,IGSF9,IL6R,ILDR2,ILF2,INSRR,INTS3,IQGAP3,ISG20L2,ITLN1,ITLN2,IVNS1ABP,JTB,KCNJ10,KCNJ9,KCNN3,KCNT2,KIAA0040,KIAA0907,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,KRTCAP2,LAMC1,LAMC2,LAMTOR2,LENEP,LHX4,LINC00272,LINC00626,LMNA,LMX1A,LOC100131825,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC400794,LOC440700,LOC440704,LOC646268,LOC730102,LOC730159,LRRC52,LRRC71,LY9,MAEL,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGST3,MIR1278,MIR1295A,MIR1295B,MIR190B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4258,MIR4424,MIR4654,MIR4735,MIR488,MIR5187,MIR548F1,MIR555,MIR556,MIR557,MIR765,MIR9-1,MIR921,MIR92B,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPS14,MSTO1,MSTO2P,MTX1,MUC1,MYOC,NCF2,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NPR1,NR1I3,NTRK1,NUF2,NUP210L,OCLM,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PAQR6,PBX1,PBXIP1,PCP4L1,PDC,PEA15,PEAR1,PEX19,PFDN2,PGLYRP4,PIGC,PIGM,PKLR,PLA2G4A,PMF1,PMF1-BGLAP,PMVK,POGK,POU2F1,POU5F1P4,PPOX,PRCC,PRDX6,PRG4,PRRC2C,PRRX1,PTGS2,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBG,RIT1,RNASEL,RNF2,RNU6-72,RPL31P11,RPS27,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCYL3,SDHC,SEC16B,SELE,SELL,SELP,SEMA4A,SERPINC1,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC27A3,SLC39A1,SLC50A1,SLC9C2,SMG5,SMG7,SMG7-AS1,SNAPIN,SNORA42,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,SPTA1,SSR2,STX6,SUCO,SUMO1P3,SWT1,SYT11,TADA1,TAGLN2,TBX19,TDRD10,TDRD5,TEDDM1,TEX35,THBS3,TIPRL,TMCO1,TMEM79,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TPR,TRIM46,TRMT1L,TROVE2,TSACC,TSEN15,TSTD1,TTC24,UAP1,UBAP2L,UBE2Q1,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VHLL,VSIG8,XCL1,XCL2,XPR1,YY1AP1,ZBTB37,ZBTB41,ZBTB7B,ZNF648 chr1 153300000 247249719 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ABCB10,ABL2,ACBD3,ACBD6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD36BP1,ANKRD45,APCS,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,ATP8B2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BGLAP,BLZF1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf189,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf53,C1orf61,C1orf65,C1orf74,C1orf85,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC73,CDK18,CENPF,CENPL,CEP170,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CREB3L4,CREG1,CRP,CRTC2,CSRP1,CTSE,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM71A,FAM72A,FAM78B,FAM89A,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLJ23867,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,FMOD,G0S2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GGPS1,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HSD11B1,HSD17B7,HSPA6,HSPA7,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITLN1,ITLN2,ITPKB,IVNS1ABP,JMJD4,JTB,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00582,LINC00626,LINC00628,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC646268,LOC728463,LOC730102,LOC730159,LOC730227,LOC731275,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3658,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5187,MIR5191,MIR548F1,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPS14,MSTO1,MSTO2P,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NPR1,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUF2,NUP133,NUP210L,NVL,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PEA15,PEAR1,PEX19,PFDN2,PFKFB2,PGBD5,PGLYRP4,PHLDA3,PIGC,PIGM,PIGR,PIK3C2B,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POU2F1,POU5F1P4,PPFIA4,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PROX1,PRRC2C,PRRX1,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIT1,RNASEL,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPL31P11,RPS10P7,RPS27,RPS6KC1,RPS7P5,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SELE,SELL,SELP,SEMA4A,SERPINC1,SERTAD4,SERTAD4-AS1,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC35F3,SLC39A1,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SOAT1,SOX13,SPATA17,SPHAR,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TATDN3,TBCE,TBX19,TDRD10,TDRD5,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,UAP1,UBAP2L,UBE2Q1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 153300501 153302500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 153302501 153563500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PGLYRP4,S100A12,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9 chr1 153302836 153308653 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PGLYRP4 chr1 153302837 153308651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP4 chr1 153302837 153308651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP4 chr1 153308271 153355469 Gain and loss Pancreatic cancer SNP array 17952125 PGLYRP4,S100A12,S100A9 chr1 153312195 153312293 Gain and loss Pancreatic cancer SNP array 17952125 PGLYRP4 chr1 153314668 154508338 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,PGLYRP4,RAB13,RPS27,S100A1,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L chr1 153317971 153326638 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PGLYRP4 chr1 153317972 153326628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP4 chr1 153317972 153326628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP4 chr1 153323807 153343104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 S100A9 chr11 5332498 5333384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153334433 153343091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 153342037 153342137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 153359590 153359698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153363456 154247964 LOH Normal High-resolution SNP genotyping 21211785 C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,RAB13,RPS27,S100A1,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,SLC27A3,SLC39A1,SNAPIN,TPM3,UBAP2L chr1 153364839 153369415 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153366560 153373956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153366560 153373956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153366972 153374010 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 153374444 153377951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153374444 153377951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153374643 153377162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153377357 153384343 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153378991 153379695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153378991 153379695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153381202 153381765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153387644 153387913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153402159 153408590 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153403118 153467688 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 S100A7,S100A7L2 chr11 5340421 5340655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153408509 153412428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 S100A7L2 chr1 153408509 153412428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A7L2 chr1 153410038 154288970 LOH Normal High-resolution SNP genotyping 21211785 C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,RAB13,RPS27,S100A1,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7L2,SLC27A3,SLC39A1,SNAPIN,TPM3,UBAP2L chr1 153410038 154396482 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,RAB13,RPS27,S100A1,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7L2,SLC27A3,SLC39A1,SNAPIN,TPM3,UBAP2L chr1 153411032 154618769 LOH Normal High-resolution SNP genotyping 21211785 ADAR,AQP10,ATP8B2,C1orf189,C1orf43,CHRNB2,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,RAB13,RPS27,S100A1,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7L2,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L,UBE2Q1 chr1 153412970 153424069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153412970 153424069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153424806 153442391 Gain and loss Pancreatic cancer SNP array 17952125 S100A7 chr1 153424923 153429324 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 153424923 153429324 Gain or loss Cancer - 20668451 NOT_FOUND chr1 153424923 153429324 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 153424923 153429324 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 153424923 153429324 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 153424923 153429324 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 153424924 153429330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153424924 153429330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153431592 153431687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A7 chr1 153432005 153444314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 S100A7 chr1 153432005 153444314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A7 chr1 153445114 153450246 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153445114 153450246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153450240 153463837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153451631 153460262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153455772 153467688 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 153455784 153467688 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 153464709 154312046 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,RAB13,RPS27,S100A1,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,SLC27A3,SLC39A1,SNAPIN,TPM3,UBAP2L chr1 153467390 153470740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153470550 154482120 LOH Normal High-resolution SNP genotyping 21211785 AQP10,ATP8B2,C1orf189,C1orf43,CHTOP,CREB3L4,CRTC2,DENND4B,GATAD2B,HAX1,IL6R,ILF2,INTS3,JTB,MIR190B,NPR1,NUP210L,RAB13,RPS27,S100A1,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,SHE,SLC27A3,SLC39A1,SNAPIN,TDRD10,TPM3,UBAP2L chr1 153470867 153481112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153470867 153481112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153473164 153473252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153478279 153506715 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 153482483 153488448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153483621 153491898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153483621 153491898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153492397 153498819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153492397 153498819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153493683 153529298 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 S100A3,S100A4,S100A5,S100A6 chr1 153493697 153504125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 5349670 6834694 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APBB1,ARFIP2,C11orf42,CCKBR,CNGA4,DCHS1,DNHD1,FAM160A2,FXC1,GVINP1,HPX,ILK,MRPL17,OR2AG1,OR2AG2,OR51B5,OR51B6,OR51I1,OR51I2,OR51M1,OR51Q1,OR52B2,OR52B6,OR52D1,OR52E4,OR52E6,OR52E8,OR52H1,OR52L1,OR52N1,OR52N2,OR52N4,OR52N5,OR52W1,OR56A1,OR56A3,OR56A4,OR56A5,OR56B1,OR56B4,OR6A2,PRKCDBP,RRP8,SMPD1,TAF10,TPP1,TRIM22,TRIM3,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,UBQLN3,UBQLNL chr1 153499284 153509905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 S100A5,S100A6 chr1 153499284 153509905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A5,S100A6 chr1 15349975 15350032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KAZN chr1 153505486 153511300 Gain and loss Pancreatic cancer SNP array 17952125 S100A5,S100A6 chr1 153511351 153519814 Gain and loss Pancreatic cancer SNP array 17952125 S100A3,S100A4,S100A5 chr1 153513998 153526262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 S100A3,S100A4,S100A5 chr1 153513998 153526262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A3,S100A4,S100A5 chr1 153516054 153516122 Gain and loss Pancreatic cancer SNP array 17952125 S100A4 chr1 15351649 15419561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAZN chr1 15351649 15419561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAZN chr1 153520167 153523996 Gain and loss Pancreatic cancer SNP array 17952125 S100A3 chr1 153524975 153534609 Gain and loss Pancreatic cancer SNP array 17952125 S100A2 chr1 153525743 153525816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 153526254 153537843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 S100A2 chr1 153526254 153537843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A2 chr1 153526267 153526367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 153545331 153557080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153545331 153557080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 153547977 153600822 Gain and loss Pancreatic cancer SNP array 17952125 S100A13,S100A14,S100A16 chr1 153550347 153583677 Gain and loss Pancreatic cancer SNP array 17952125 S100A16 chr1 153557311 153567529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15356501 15608000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf126,FHAD1,KAZN,TMEM51 chr1 153571677 153798948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHTOP,GATAD2B,ILF2,INTS3,NPR1,S100A1,S100A13,S100A14,S100A16,SLC27A3,SNAPIN chr1 153571677 153798948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHTOP,GATAD2B,ILF2,INTS3,NPR1,S100A1,S100A13,S100A14,S100A16,SLC27A3,SNAPIN chr1 153582765 153582860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A16 chr1 153589109 153599675 Gain and loss Pancreatic cancer SNP array 17952125 S100A13 chr1 153595127 153595233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S100A13 chr1 153623738 153641739 Gain and loss Pancreatic cancer SNP array 17952125 ILF2,SNAPIN chr1 15362714 15362748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KAZN chr1 1536308 6536308 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ACOT7,ACTRT2,AJAP1,ARHGEF16,C1orf174,C1orf86,CALML6,CCDC27,CDK11A,CDK11B,CEP104,CHD5,DFFB,ESPN,FAM213B,FLJ42875,GABRD,GNB1,GPR153,HES2,HES3,HES5,ICMT,KCNAB2,KIAA1751,LOC100129534,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIB2,MIR4251,MIR4252,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,NADK,NPHP4,PANK4,PEX10,PLCH2,PLEKHG5,PRDM16,PRKCZ,RER1,RNF207,RPL22,SKI,SLC35E2,SLC35E2B,SMIM1,TMEM52,TNFRSF14,TNFRSF25,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 chr1 153643800 153664715 Gain and loss Pancreatic cancer SNP array 17952125 NPR1 chr1 153655812 153655915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPR1 chr1 153669595 153670677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5367205 5368185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr11 5367205 5368185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr11 5367238 5368185 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr1 15367560 15370400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAZN chr1 153689182 153699291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153692784 153715953 Gain and loss Pancreatic cancer SNP array 17952125 INTS3 chr11 53700000 135006516 Deletion Neuroblastoma Affymetrix 50K, 250K SNP arrays from 18664255 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 53700000 135006516 Gain Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 53700000 135006516 Gain Multiple myeloma CGH, Real-Time PCR 17077331 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 53700000 135006516 Loss Neuroblastoma Affymetrix U133 Plus 2 chip 17533364 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM48,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM51HP,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 53700000 55700000 Loss and deletion Multiple myeloma Array CGH 16616336 OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2,OR5W2,TRIM48,TRIM51,TRIM51HP chr1 153717706 153828235 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2B,INTS3,SLC27A3 chr1 153720834 153720919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INTS3 chr1 153724533 153744944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INTS3 chr1 15373219 15469928 Gain and loss Pancreatic cancer SNP array 17952125 C1orf126,KAZN chr1 153760192 153794370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GATAD2B chr1 153768614 153768914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153768618 153768914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 153769375 153804295 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GATAD2B chr11 5380403 5381353 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr11 5380403 5381353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr1 153823059 153838612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2B chr1 153827016 153827677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2B chr1 153846631 153851381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATAD2B chr1 153846631 153851381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2B chr1 153856140 153857044 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2B chr1 153863173 153865810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2B chr1 153874909 153882673 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2B chr1 153895858 153925415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRTC2,DENND4B chr1 153895858 153925415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTC2,DENND4B chr1 153899797 153911907 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DENND4B chr1 153907706 153921250 Gain and loss Pancreatic cancer SNP array 17952125 CRTC2,DENND4B chr1 15390902 15391868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAZN chr1 153925473 153975425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREB3L4,CRTC2,JTB,NUP210L,RAB13,RPS27,SLC39A1 chr1 153925473 153975425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREB3L4,CRTC2,JTB,NUP210L,RAB13,RPS27,SLC39A1 chr1 153926384 153931088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRTC2 chr1 153927851 153929981 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CRTC2 chr1 153927851 153929981 Loss Normal Birdsuite, version 1.5.2 22087296 CRTC2 chr1 153930709 153930749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTC2 chr1 153930799 153930867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTC2 chr1 15394717 15394817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KAZN chr1 153952058 153952158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 153954149 153987396 Amplification or deletion Cancer Array CGH 17440070 NUP210L,RAB13,RPS27 chr11 5397196 5454375 Gain Autism qPCR 20531469 OR51B5,OR51M1,OR51Q1 chr1 153985109 153986604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP210L chr1 153986132 154093710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP210L chr1 153986132 154093710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP210L chr1 1 5400000 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr11 5400007 5400960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr11 5400007 5400960 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr11 5400007 5400960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr11 5400959 5446519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B5,OR51M1,OR51Q1 chr11 5400959 5446519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5,OR51M1,OR51Q1 chr1 154013061 154013198 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NUP210L chr1 154047519 154068434 Amplification or deletion Cancer Array CGH 17440070 NUP210L chr1 1540736 1555853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIB2 chr1 1540736 1555853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIB2 chr1 154077207 154077351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUP210L chr1 154081782 154083039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP210L chr11 5408474 5446519 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5,OR51M1,OR51Q1 chr1 154088696 154329131 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AQP10,ATP8B2,C1orf189,C1orf43,HAX1,MIR190B,NUP210L,TPM3,UBAP2L chr1 154095924 154121461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP210L chr1 154095924 154121461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP210L chr1 154110888 154111635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NUP210L chr1 154130696 154130801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM3 chr1 154134225 154147801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPM3 chr1 154134225 154147801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM3 chr1 154149042 154162259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TPM3 chr1 154149460 154170814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR190B,TPM3 chr1 154149460 154170814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR190B,TPM3 chr1 1541501 1567500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIB2 chr1 154156324 154156460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM3 chr1 154162373 154162501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM3 chr1 154177501 154477500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AQP10,ATP8B2,C1orf189,C1orf43,HAX1,IL6R,SHE,TDRD10,UBAP2L chr1 154178105 154179340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf189,C1orf43 chr1 154178105 154179340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf189,C1orf43 chr1 154183270 154226488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf43,UBAP2L chr1 154183270 154226488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf43,UBAP2L chr11 54185010 64807842 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AHNAK,APLNR,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,BAD,BATF2,BEST1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf31,C11orf48,C11orf83,C11orf84,C11orf85,C11orf9,C11orf95,CCDC86,CCDC88B,CD5,CD6,CDC42BPG,CHRM1,CLP1,CNTF,COX8A,CPSF7,CTNND1,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DNAJC4,DTX4,EEF1G,EHD1,EML3,ESRRA,FADS1,FADS2,FADS3,FAM111A,FAM111B,FEN1,FERMT3,FKBP2,FLRT1,FTH1,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,KCNK4,LGALS12,LINC00301,LOC100996455,LOC283194,LPXN,LRRC10B,LRRC55,LRRN4CL,MACROD1,MAP4K2,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR1908,MIR192,MIR194-2,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR611,MPEG1,MRPL16,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,NAA40,NRXN2,NUDT22,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,OTUB1,P2RX3,PATL1,PGA3,PGA4,PGA5,PLA2G16,PLAC1L,PLCB3,POLR2G,PPP1R14B,PPP1R32,PPP2R5B,PRDX5,PRG2,PRG3,PRPF19,PTGDR2,PYGM,RAB3IL1,RARRES3,RASGRP2,RCOR2,ROM1,RPLP0P2,RPS6KA4,RTN3,RTN4RL2,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SDHAF2,SERPING1,SF1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SSRP1,STIP1,STX3,STX5,SYT7,TAF6L,TCN1,TIMM10,TMEM109,TMEM132A,TMEM138,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TRIM48,TRIM51,TRIM51HP,TRMT112,TRPT1,TTC9C,TUT1,UBE2L6,UBXN1,VEGFB,VPS37C,VWCE,WDR74,YPEL4,ZBTB3,ZDHHC5,ZFP91,ZFP91-CNTF,ZP1 chr1 154203501 156050400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAM15,ADAR,AQP10,ARHGEF2,ASH1L,ASH1L-AS1,ATP8B2,CHRNB2,CKS1B,CLK2,DAP3,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,FAM189B,FDPS,FLAD1,GBA,GBAP1,GON4L,HAX1,HCN3,IL6R,KCNN3,KIAA0907,KRTCAP2,LAMTOR2,LENEP,LOC100505666,MEX3A,MIR4258,MIR555,MIR92B,MSTO1,MSTO2P,MTX1,MUC1,PBXIP1,PKLR,PMVK,POU5F1P4,PYGO2,RAB25,RIT1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SHC1,SHE,SLC50A1,SNORA42,SSR2,SYT11,TDRD10,THBS3,TRIM46,UBAP2L,UBE2Q1,UBQLN4,YY1AP1,ZBTB7B chr1 154245463 154257382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAX1 chr1 154245463 154257382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAX1 chr1 154271717 154290140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154271717 154290140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154291228 154296003 Gain or loss Breast cancer - 20668451 AQP10 chr1 154291228 154296003 Gain or loss Cancer - 20668451 AQP10 chr1 154291228 154296003 Gain or loss Lung cancer - 20668451 AQP10 chr1 154291228 154296003 Gain or loss Ovarian cancer - 20668451 AQP10 chr1 154291228 154296003 Gain or loss Pancreas cancer - 20668451 AQP10 chr1 154291228 154296003 Gain or loss Prostate cancer - 20668451 AQP10 chr1 154291229 154294919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AQP10 chr1 154291229 154294919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AQP10 chr1 154294552 154294652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AQP10 chr1 154296240 154335383 Gain and loss Pancreatic cancer SNP array 17952125 AQP10,ATP8B2 chr1 154297590 154306917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AQP10,ATP8B2 chr1 154297590 154306917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AQP10,ATP8B2 chr11 54301304 66986270 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTN3,AHNAK,AP5B1,APLNR,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf31,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CFL1,CHRM1,CLP1,CNIH2,CNTF,COX8A,CPSF7,CST6,CTNND1,CTSF,CTSW,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DNAJC4,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM89B,FAU,FEN1,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL3ST3,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LINC00301,LOC100130348,LOC100996455,LOC254100,LOC283194,LPXN,LRFN4,LRRC10B,LRRC55,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR1908,MIR192,MIR194-2,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR548AR,MIR611,MIR612,MPEG1,MRPL11,MRPL16,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,OTUB1,OVOL1,P2RX3,PACS1,PATL1,PC,PCNXL3,PELI3,PGA3,PGA4,PGA5,PLA2G16,PLAC1L,PLCB3,POLA2,POLR2G,PPP1R14B,PPP1R32,PPP2R5B,PRDX5,PRG2,PRG3,PRPF19,PTGDR2,PYGM,RAB1B,RAB3IL1,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SF1,SF3B2,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSRP1,SSSCA1,STIP1,STX3,STX5,SYT12,SYT7,SYVN1,TAF6L,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TRIM48,TRIM51,TRIM51HP,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBE2L6,UBXN1,VEGFB,VPS37C,VPS51,VWCE,WDR74,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr1 154308428 154318413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B2 chr11 5431295 5432233 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr11 5431295 5466375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B5,OR51I1,OR51Q1 chr11 5431295 5466375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5,OR51I1,OR51Q1 chr1 154313788 154313869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B2 chr1 154318992 154376502 Deletion Angio-oedema Quantitative real-time PCR 21790735 ATP8B2 chr1 154318992 154376502 Deletion Cardiomyopathy mulitplex-ligation probe amplifi cation 22029807 ATP8B2 chr1 154318992 154376502 Deletion Intellectual disability 100k SNP Array 21811512 ATP8B2 chr1 154318993 154376502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8B2 chr1 154318993 154376502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B2 chr1 154329932 154335289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 154344909 154379615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL6R chr1 154356612 154380943 Gain and loss Pancreatic cancer SNP array 17952125 IL6R chr1 15435808 15597210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf126,FHAD1,KAZN,TMEM51 chr1 15435808 15597210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf126,FHAD1,KAZN,TMEM51 chr1 154360699 154360985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154386434 154414167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL6R chr1 154386434 154414167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL6R chr1 154391405 163508931 Loss Prostate cancer Array CGH 18632612 ADAM15,ADAMTS4,ADAR,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,BGLAP,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,C1orf61,C1orf85,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CHRNB2,CKS1B,CLK2,COPA,CRABP2,CRP,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DDR2,DEDD,DPM3,DUSP12,DUSP23,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,F11R,FAM189B,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HCN3,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,IL6R,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIRREL,KLHDC9,KRTCAP2,LAMTOR2,LENEP,LMNA,LOC100131825,LOC100505633,LOC100505666,LOC646268,LRRC71,LY9,MEF2D,MEX3A,MIR4258,MIR4654,MIR5187,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MNDA,MPZ,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAQR6,PBXIP1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PPOX,PRCC,PVRL4,PYGO2,PYHIN1,RAB25,RGS4,RGS5,RHBG,RIT1,RPL31P11,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SDHC,SEMA4A,SH2D1B,SH2D2A,SHC1,SHE,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC50A1,SMG5,SNORA42,SPTA1,SSR2,SUMO1P3,SYT11,TAGLN2,TDRD10,THBS3,TMEM79,TOMM40L,TRIM46,TSACC,TSTD1,TTC24,UAP1,UBE2Q1,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VSIG8,YY1AP1,ZBTB7B chr1 154395622 154395689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL6R chr1 154412845 154413591 Gain and loss Pancreatic cancer SNP array 17952125 IL6R chr1 154430523 154449210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL6R chr1 154430523 154449210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL6R chr1 154449408 154479736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHE,TDRD10 chr1 154449408 154479736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHE,TDRD10 chr11 54450844 54458929 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 54452283 54783492 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 54452283 55120934 LOH Normal High-resolution SNP genotyping 21211785 OR4A16,TRIM48,TRIM51HP chr11 54452283 55123401 LOH Normal High-resolution SNP genotyping 21211785 OR4A16,TRIM48,TRIM51HP chr11 54452283 55221382 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A15,OR4A16,TRIM48,TRIM51HP chr11 54452283 55225798 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A15,OR4A16,TRIM48,TRIM51HP chr11 54452283 55280191 LOH Normal High-resolution SNP genotyping 21211785 OR4A15,OR4A16,TRIM48,TRIM51HP chr11 54452283 55900539 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5L1,OR5L2,OR5W2,OR7E5P,OR8H2,OR8H3,OR8I2,TRIM48,TRIM51,TRIM51HP chr11 54452283 55979790 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5W2,OR7E5P,OR8H2,OR8H3,OR8I2,OR8J3,OR8K5,TRIM48,TRIM51,TRIM51HP chr11 54452283 56204696 Copy number loss Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 54452283 56224140 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 54452283 56225101 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 54452283 56272392 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 54452283 56287542 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 54452283 56366008 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 54452283 56381397 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 54452283 56408061 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM48,TRIM51,TRIM51HP chr11 54452283 56523919 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,TRIM48,TRIM51,TRIM51HP chr11 5445304 5652319 Duplication Normal Affymetrix 6.0 microarrays 20967226 OR51B5,OR51I1,OR51I2,OR52B6,OR52D1,OR52H1,TRIM34,TRIM6,TRIM6-TRIM34,UBQLN3,UBQLNL chr11 54453381 55222488 Copy number Alcoholism Illumina Human Hap681W-Quad BeadChip 21790672 OR4A15,OR4A16,TRIM48,TRIM51HP chr11 54453381 55222488 Copy number Normal - 21790672 OR4A15,OR4A16,TRIM48,TRIM51HP chr1 154454913 154455210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHE chr11 54458221 54514519 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 54458221 54514519 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 54458221 54514867 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 54458221 54584638 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 54458221 54592211 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 54458221 54766051 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 54458221 54767720 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 54458221 54903226 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 154459345 154483848 Gain and loss Pancreatic cancer SNP array 17952125 SHE,TDRD10 chr11 54477387 54681976 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 54477387 54734960 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 154477501 154487000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TDRD10 chr1 154479831 154484471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TDRD10 chr1 154479831 154484471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD10 chr1 154485641 154519240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TDRD10 chr1 154485641 154519240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD10 chr11 544856 550779 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LRRC56 chr11 544858 550779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC56 chr11 544858 550779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC56 chr1 154487001 154877500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAR,CHRNB2,KCNN3,TDRD10,UBE2Q1 chr1 154492135 154492548 Gain and loss Pancreatic cancer SNP array 17952125 TDRD10 chr1 154507214 154507884 Gain and loss Pancreatic cancer SNP array 17952125 TDRD10 chr11 54514519 54530469 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 154514766 154532087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TDRD10,UBE2Q1 chr1 154514766 154532087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD10,UBE2Q1 chr1 154519363 154528858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TDRD10,UBE2Q1 chr1 154519363 154528858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD10,UBE2Q1 chr1 154528599 154559983 Gain and loss Pancreatic cancer SNP array 17952125 ADAR,CHRNB2,UBE2Q1 chr11 54530457 55119904 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 OR4A16,TRIM48,TRIM51HP chr11 54530469 54722184 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 154535185 154535604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154535185 154535604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54542751 54608500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 154545376 154604261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAR,CHRNB2 chr1 154545376 154604261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAR,CHRNB2 chr1 154573727 154583410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAR chr1 154577399 154602964 Gain and loss Pancreatic cancer SNP array 17952125 ADAR chr11 54591779 54620503 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr11 54592199 54954088 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-681K arrays 21546498 NOT_FOUND chr11 54592739 54608243 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr1 154605627 154621635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154605627 154621635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154606417 155110852 LOH Normal High-resolution SNP genotyping 21211785 ADAM15,CKS1B,DCST1,DCST2,EFNA1,EFNA3,EFNA4,FLAD1,KCNN3,LENEP,LOC100505666,MIR4258,PBXIP1,PMVK,PYGO2,SHC1,SLC50A1,ZBTB7B chr1 154613779 154624624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 54614486 54722172 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 54614486 54734960 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 54614501 54632500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 54636001 54651500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 154640675 154665995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154640675 154665995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154644060 154644323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 154646416 154922254 Copy number loss Normal High-resolution SNP genotyping 21211785 KCNN3,PBXIP1,PMVK chr1 154648275 154665845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154656757 154656845 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr1 154656757 154656845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54663001 54763500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 5466513 5467469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr11 5466513 5467469 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr11 5466513 5467469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr1 154677866 154699522 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 KCNN3 chr11 54696919 54766038 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 154700146 154737153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154700146 154737153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154707650 154707740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNN3 chr1 154708261 154708683 Gain and loss Pancreatic cancer SNP array 17952125 KCNN3 chr11 54713505 54729697 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 154715647 154749452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNN3 chr1 154720514 154720626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr11 54722184 54793048 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 154732296 154749727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNN3 chr1 154749178 154749259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNN3 chr1 154750700 154750784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNN3 chr1 154761402 154775833 Amplification or deletion Cancer Array CGH 17440070 KCNN3 chr1 154761820 154809020 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 KCNN3 chr1 154761822 154809020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154761822 154809020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr11 54763501 54784500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 154765746 154765844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154776136 154878911 Gain and loss Pancreatic cancer SNP array 17952125 KCNN3 chr1 154780338 154780438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNN3 chr11 5478207 5479747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OR51B5 chr11 54784823 54795083 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 54785343 54827835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 54786234 54795168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54786234 54795168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 54786234 54795168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5478747 5480169 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OR51B5 chr11 5478747 5480169 Loss Normal Birdsuite, version 1.5.2 22087296 OR51B5 chr11 54788176 54795116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 154791301 154797500 Deletion Glioma mate-paired sequence 20126413 KCNN3 chr11 54793048 54796378 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 154793329 154795559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNN3 chr1 154800000 157300000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM15,APOA1BP,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,BCAN,BGLAP,C1orf61,C1orf85,CCT3,CKS1B,CLK2,CRABP2,CYCSP52,DAP3,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,FAM189B,FDPS,FLAD1,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HCN3,HDGF,INSRR,IQGAP3,ISG20L2,KCNN3,KIAA0907,KRTCAP2,LAMTOR2,LENEP,LMNA,LOC100505666,LRRC71,MEF2D,MEX3A,MIR4258,MIR555,MIR765,MIR9-1,MIR92B,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NES,NTRK1,PAQR6,PBXIP1,PEAR1,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PRCC,PYGO2,RAB25,RHBG,RIT1,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SEMA4A,SH2D2A,SHC1,SLC25A44,SLC50A1,SMG5,SNORA42,SSR2,SYT11,THBS3,TMEM79,TRIM46,TSACC,TTC24,UBQLN4,VHLL,YY1AP1,ZBTB7B chr1 154800000 157300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM15,APOA1BP,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,BCAN,BGLAP,C1orf61,C1orf85,CCT3,CKS1B,CLK2,CRABP2,CYCSP52,DAP3,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,FAM189B,FDPS,FLAD1,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HCN3,HDGF,INSRR,IQGAP3,ISG20L2,KCNN3,KIAA0907,KRTCAP2,LAMTOR2,LENEP,LMNA,LOC100505666,LRRC71,MEF2D,MEX3A,MIR4258,MIR555,MIR765,MIR9-1,MIR92B,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NES,NTRK1,PAQR6,PBXIP1,PEAR1,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PRCC,PYGO2,RAB25,RHBG,RIT1,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SEMA4A,SH2D2A,SHC1,SLC25A44,SLC50A1,SMG5,SNORA42,SSR2,SYT11,THBS3,TMEM79,TRIM46,TSACC,TTC24,UBQLN4,VHLL,YY1AP1,ZBTB7B chr1 154800000 157300000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 ADAM15,APOA1BP,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,BCAN,BGLAP,C1orf61,C1orf85,CCT3,CKS1B,CLK2,CRABP2,CYCSP52,DAP3,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,FAM189B,FDPS,FLAD1,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HCN3,HDGF,INSRR,IQGAP3,ISG20L2,KCNN3,KIAA0907,KRTCAP2,LAMTOR2,LENEP,LMNA,LOC100505666,LRRC71,MEF2D,MEX3A,MIR4258,MIR555,MIR765,MIR9-1,MIR92B,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NES,NTRK1,PAQR6,PBXIP1,PEAR1,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PRCC,PYGO2,RAB25,RHBG,RIT1,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SEMA4A,SH2D2A,SHC1,SLC25A44,SLC50A1,SMG5,SNORA42,SSR2,SYT11,THBS3,TMEM79,TRIM46,TSACC,TTC24,UBQLN4,VHLL,YY1AP1,ZBTB7B chr1 154800000 157300000 Gain Multiple myeloma CGH, FISH 16461302 ADAM15,APOA1BP,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,BCAN,BGLAP,C1orf61,C1orf85,CCT3,CKS1B,CLK2,CRABP2,CYCSP52,DAP3,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,FAM189B,FDPS,FLAD1,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HCN3,HDGF,INSRR,IQGAP3,ISG20L2,KCNN3,KIAA0907,KRTCAP2,LAMTOR2,LENEP,LMNA,LOC100505666,LRRC71,MEF2D,MEX3A,MIR4258,MIR555,MIR765,MIR9-1,MIR92B,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NES,NTRK1,PAQR6,PBXIP1,PEAR1,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PRCC,PYGO2,RAB25,RHBG,RIT1,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SEMA4A,SH2D2A,SHC1,SLC25A44,SLC50A1,SMG5,SNORA42,SSR2,SYT11,THBS3,TMEM79,TRIM46,TSACC,TTC24,UBQLN4,VHLL,YY1AP1,ZBTB7B chr1 154800000 158800000 Gain Multiple myeloma CGH, FISH 16461302 ADAM15,APOA1BP,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,BCAN,BGLAP,C1orf61,C1orf85,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,CKS1B,CLK2,CRABP2,CYCSP52,DAP3,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,FAM189B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FDPS,FLAD1,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HCN3,HDGF,INSRR,IQGAP3,ISG20L2,KCNN3,KIAA0907,KIRREL,KRTCAP2,LAMTOR2,LENEP,LMNA,LOC100505666,LOC646268,LRRC71,MEF2D,MEX3A,MIR4258,MIR555,MIR765,MIR9-1,MIR92B,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NES,NTRK1,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAQR6,PBXIP1,PEAR1,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PRCC,PYGO2,RAB25,RHBG,RIT1,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SEMA4A,SH2D2A,SHC1,SLC25A44,SLC50A1,SMG5,SNORA42,SPTA1,SSR2,SYT11,THBS3,TMEM79,TRIM46,TSACC,TTC24,UBQLN4,VHLL,YY1AP1,ZBTB7B chr11 54803501 54809000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 54808710 54809575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54816133 54822324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54816133 54822324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15481739 15502132 Gain and loss Pancreatic cancer SNP array 17952125 TMEM51 chr1 154817781 154823526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154817781 154823526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154828178 154830715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154828178 154830715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154828181 154830715 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 KCNN3 chr1 154830908 154837894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr1 154830908 154837894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNN3 chr11 5485108 5487744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr11 5485108 5487744 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr11 5485108 5487744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr1 154855710 154862141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154855710 154862141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54867253 54868239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54867253 54868239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 54867253 54868239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154877501 154949000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CKS1B,MIR4258,PBXIP1,PMVK,PYGO2,SHC1 chr1 154878357 154895939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154878357 154895939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154878363 154895944 Deletion Normal References 22138850 NOT_FOUND chr1 154879389 154880015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 54880501 54882000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 154881818 157988680 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM15,APOA1BP,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,BCAN,BGLAP,C1orf61,C1orf85,CCT3,CD5L,CKS1B,CLK2,CRABP2,CYCSP52,DAP3,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,FAM189B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FDPS,FLAD1,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HCN3,HDGF,INSRR,IQGAP3,ISG20L2,KIAA0907,KIRREL,KRTCAP2,LAMTOR2,LENEP,LMNA,LOC100505666,LRRC71,MEF2D,MEX3A,MIR4258,MIR555,MIR765,MIR9-1,MIR92B,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NES,NTRK1,PAQR6,PBXIP1,PEAR1,PKLR,PMF1,PMF1-BGLAP,PMVK,POU5F1P4,PRCC,PYGO2,RAB25,RHBG,RIT1,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SEMA4A,SH2D2A,SHC1,SLC25A44,SLC50A1,SMG5,SNORA42,SSR2,SYT11,THBS3,TMEM79,TRIM46,TSACC,TTC24,UBQLN4,VHLL,YY1AP1,ZBTB7B chr11 54891936 54892970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54891936 54892970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 54892026 54892970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 154905182 154913813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PMVK chr1 154905182 154913813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PMVK chr11 54919291 55989873 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5W2,OR7E5P,OR8H2,OR8H3,OR8I2,OR8J3,OR8K5,TRIM48,TRIM51,TRIM51HP chr11 5492199 5494511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr11 5492199 5494511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr1 15492263 16706015 LOH Normal High-resolution SNP genotyping 21211785 AGMAT,ARHGEF19,C1orf64,CASP9,CELA2A,CELA2B,CLCNKA,CLCNKB,CTRC,DDI2,DNAJC16,EFHD2,EPHA2,FAM131C,FBLIM1,FBXO42,FHAD1,FLJ37453,HSPB7,PLEKHM2,RSC1A1,RSG1,SLC25A34,SPEN,SZRD1,TMEM51,TMEM82,UQCRHL,ZBTB17 chr11 5492820 5494247 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr1 154936029 154941999 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 SHC1 chr1 154936034 154942232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHC1 chr1 154936034 154942232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHC1 chr11 54940302 55015267 Loss Normal 244K array 17666407 NOT_FOUND chr1 154949001 154989000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CKS1B,FLAD1,LENEP,ZBTB7B chr1 154958713 154960593 Gain and loss Pancreatic cancer SNP array 17952125 FLAD1 chr1 154959019 154965215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLAD1 chr1 154959019 154965215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLAD1 chr1 154959036 154964835 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 FLAD1 chr11 5496244 5500873 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr11 5496247 5502761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5 chr1 154962810 154967758 Gain and loss Pancreatic cancer SNP array 17952125 FLAD1,LENEP chr1 154964902 154973365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLAD1,LENEP chr1 154964902 154973365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLAD1,LENEP chr1 154969605 154969673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154973717 154977547 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ZBTB7B chr1 154973718 154977547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7B chr1 154978334 154978701 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZBTB7B chr1 154978522 155003341 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 DCST2,ZBTB7B chr1 154978526 154988864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7B chr1 154978526 154988864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7B chr1 154978607 154979115 Gain Ewing's sarcoma Array CGH 19144156 ZBTB7B chr11 54978996 55268838 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4A15,OR4A16,TRIM48,TRIM51HP chr1 154981047 154981084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB7B chr1 154989001 155075500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAM15,DCST1,DCST2,EFNA3,EFNA4,LOC100505666,ZBTB7B chr11 54991108 54991770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 54991108 54991770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 154996956 155003668 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DCST2 chr1 155000000 156500000 Gain and amplification Multiple myeloma Array CGH 16616336 ADAM15,ARHGEF2,ASH1L,ASH1L-AS1,BGLAP,C1orf61,C1orf85,CCT3,CLK2,DAP3,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,FAM189B,FDPS,GBA,GBAP1,GON4L,HCN3,IQGAP3,KIAA0907,KRTCAP2,LAMTOR2,LMNA,LOC100505666,MEF2D,MEX3A,MIR555,MIR9-1,MIR92B,MSTO1,MSTO2P,MTX1,MUC1,PAQR6,PKLR,PMF1,PMF1-BGLAP,POU5F1P4,RAB25,RHBG,RIT1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SEMA4A,SLC25A44,SLC50A1,SMG5,SNORA42,SSR2,SYT11,THBS3,TMEM79,TRIM46,TSACC,UBQLN4,VHLL,YY1AP1 chr1 155000000 165500000 Amplification Hepatocellular carcinoma Array CGH 16750200 ADAM15,ADAMTS4,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ARHGEF2,ASH1L,ASH1L-AS1,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,BGLAP,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,C1orf61,C1orf85,CADM3,CASQ1,CCDC19,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,CLK2,COPA,CRABP2,CRP,CYCSP52,DAP3,DARC,DCAF8,DCST1,DCST2,DDR2,DEDD,DPM3,DUSP12,DUSP23,EFNA1,EFNA3,EFNA4,ETV3,ETV3L,F11R,FAM189B,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,GBA,GBAP1,GON4L,GPATCH4,HAPLN2,HCN3,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIAA0907,KIRREL,KLHDC9,KRTCAP2,LAMTOR2,LMNA,LMX1A,LOC100131825,LOC100505633,LOC100505666,LOC100505795,LOC400794,LOC646268,LRRC71,LY9,MEF2D,MEX3A,MIR4654,MIR5187,MIR555,MIR556,MIR765,MIR9-1,MIR92B,MNDA,MPZ,MRPL24,MSTO1,MSTO2P,MTX1,MUC1,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAQR6,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PKLR,PMF1,PMF1-BGLAP,POU5F1P4,PPOX,PRCC,PVRL4,PYHIN1,RAB25,RGS4,RGS5,RHBG,RIT1,RPL31P11,RRNAD1,RUSC1,RUSC1-AS1,RXFP4,RXRG,SCAMP3,SCARNA4,SDHC,SEMA4A,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC25A44,SLC50A1,SMG5,SNORA42,SPTA1,SSR2,SUMO1P3,SYT11,TAGLN2,THBS3,TMEM79,TOMM40L,TRIM46,TSACC,TSTD1,TTC24,UAP1,UBQLN4,UFC1,UHMK1,USF1,USP21,VANGL2,VHLL,VSIG8,YY1AP1 chr1 155000000 249250621 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ABCB10,ABL2,ACBD3,ACBD6,ACTA1,ACTN2,ADAM15,ADAMTS4,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AIM2,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD36BP1,ANKRD45,APCS,APOA1BP,APOA2,APOBEC4,ARF1,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BGLAP,BLZF1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf192,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf53,C1orf61,C1orf65,C1orf74,C1orf85,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CASQ1,CCDC19,CCSAP,CCT3,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD5L,CD84,CDC42BPA,CDC73,CDK18,CENPF,CENPL,CEP170,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CLK2,CNIH3,CNIH4,CNST,CNTN2,COG2,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CREG1,CRP,CSRP1,CTSE,CYB5R1,CYCSP52,DAP3,DARC,DARS2,DCAF6,DCAF8,DCST1,DCST2,DDR2,DDX59,DEDD,DEGS1,DENND1B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPM3,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EXO1,EXOC8,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM189B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM71A,FAM72A,FAM78B,FAM89A,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLJ23867,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,FMOD,G0S2,GALNT2,GAS5,GAS5-AS1,GBA,GBAP1,GCSAML,GCSAML-AS1,GGPS1,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GREM2,GUK1,H3F3A,H3F3AP4,HAPLN2,HCN3,HDGF,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HSD11B1,HSD17B7,HSPA6,HSPA7,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,ILDR2,INSRR,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITLN1,ITLN2,ITPKB,IVNS1ABP,JMJD4,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00582,LINC00626,LINC00628,LMNA,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100131825,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC646268,LOC728463,LOC730102,LOC730159,LOC730227,LOC731275,LPGAT1,LRRC52,LRRC71,LRRN2,LY9,LYPD8,LYPLAL1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5187,MIR5191,MIR548F1,MIR555,MIR556,MIR557,MIR664,MIR765,MIR9-1,MIR921,MIR92B,MIXL1,MNDA,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPS14,MSTO1,MSTO2P,MTR,MTX1,MUC1,MYBPH,MYOC,MYOG,NAV1,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NHLH1,NID1,NIT1,NLRP3,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NR1I3,NR5A2,NSL1,NTPCR,NTRK1,NUAK2,NUCKS1,NUF2,NUP133,NVL,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PAQR6,PARP1,PBX1,PCNXL2,PCP4L1,PDC,PEA15,PEAR1,PEX19,PFDN2,PFKFB2,PGBD2,PGBD5,PHLDA3,PIGC,PIGM,PIGR,PIK3C2B,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,POGK,POU2F1,POU5F1P4,PPFIA4,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PROX1,PRRC2C,PRRX1,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYHIN1,QSOX1,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOU,RIT1,RNASEL,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPL31P11,RPS10P7,RPS6KC1,RPS7P5,RRNAD1,RRP15,RUSC1,RUSC1-AS1,RXFP4,RXRG,RYR2,SCAMP3,SCARNA3,SCARNA4,SCCPDH,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SELE,SELL,SELP,SEMA4A,SERPINC1,SERTAD4,SERTAD4-AS1,SFT2D2,SH2D1B,SH2D2A,SH3BP5L,SHCBP1L,SHISA4,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC25A44,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SLC50A1,SLC9C2,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SOAT1,SOX13,SPATA17,SPHAR,SPRTN,SPTA1,SRGAP2,SRP9,SSR2,STX6,SUCO,SUMO1P3,SUSD4,SWT1,SYT11,SYT14,SYT2,TADA1,TAF1A,TAF5L,TAGLN2,TARBP1,TATDN3,TBCE,TBX19,TDRD5,TEDDM1,TEX35,TFB2M,TGFB2,THBS3,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM79,TMEM81,TMEM9,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM46,TRIM58,TRIM67,TRMT1L,TROVE2,TSACC,TSEN15,TSNAX,TSNAX-DISC1,TSTD1,TTC13,TTC24,UAP1,UBE2T,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VHLL,VN1R5,VSIG8,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr1 155003897 155037233 Gain or loss Breast cancer - 20668451 ADAM15,DCST1,DCST2,EFNA4,LOC100505666 chr1 155003897 155037233 Gain or loss Cancer - 20668451 ADAM15,DCST1,DCST2,EFNA4,LOC100505666 chr1 155003897 155037233 Gain or loss Lung cancer - 20668451 ADAM15,DCST1,DCST2,EFNA4,LOC100505666 chr1 155003897 155037233 Gain or loss Ovarian cancer - 20668451 ADAM15,DCST1,DCST2,EFNA4,LOC100505666 chr1 155003897 155037233 Gain or loss Pancreas cancer - 20668451 ADAM15,DCST1,DCST2,EFNA4,LOC100505666 chr1 155003897 155037233 Gain or loss Prostate cancer - 20668451 ADAM15,DCST1,DCST2,EFNA4,LOC100505666 chr1 155003898 155037226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM15,DCST1,DCST2,EFNA4,LOC100505666 chr1 155003898 155037226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM15,DCST1,DCST2,EFNA4,LOC100505666 chr11 55015109 55016200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55015109 55016200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155022407 155022482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCST1,LOC100505666 chr11 550314 550379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC56 chr1 155037000 155058903 Gain and loss Pancreatic cancer SNP array 17952125 EFNA3,EFNA4 chr11 550403 554018 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LRRC56 chr1 155042659 155053250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFNA3 chr1 155042659 155053250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFNA3 chr1 155045002 155148010 Gain aortic dissecting aneurysms Array-CGH 22263138 DPM3,EFNA1,EFNA3,KRTCAP2,SLC50A1,TRIM46 chr1 155052165 155118266 Gain or loss Breast cancer - 20668451 DPM3,EFNA1,EFNA3,SLC50A1 chr1 155052165 155118266 Gain or loss Cancer - 20668451 DPM3,EFNA1,EFNA3,SLC50A1 chr1 155052165 155118266 Gain or loss Lung cancer - 20668451 DPM3,EFNA1,EFNA3,SLC50A1 chr1 155052165 155118266 Gain or loss Ovarian cancer - 20668451 DPM3,EFNA1,EFNA3,SLC50A1 chr1 155052165 155118266 Gain or loss Pancreas cancer - 20668451 DPM3,EFNA1,EFNA3,SLC50A1 chr1 155052165 155118266 Gain or loss Prostate cancer - 20668451 DPM3,EFNA1,EFNA3,SLC50A1 chr1 155052166 155118266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPM3,EFNA1,EFNA3,SLC50A1 chr1 155052166 155118266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPM3,EFNA1,EFNA3,SLC50A1 chr11 5505936 5529584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR51B5,OR52D1,UBQLN3 chr11 5505936 5529584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR51B5,OR52D1,UBQLN3 chr11 55061697 55061774 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIM51HP chr11 55063976 55081467 Gain Normal Quantitative PCR 18989455 TRIM51HP chr11 55066022 55066526 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 155072877 155076477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55073652 55268838 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4A15,OR4A16 chr1 155075501 155151500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPM3,EFNA1,KRTCAP2,SLC50A1,TRIM46 chr1 155077288 155095290 Copy number Lung cancer - 20668451 NOT_FOUND chr1 155077288 155095290 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 155077288 155095290 Gain or loss Cancer - 20668451 NOT_FOUND chr1 155077288 155095290 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 155077288 155095290 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 155077288 155095290 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 155077288 155095290 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 155077289 155095290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155077289 155095290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55078359 55079471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55078359 55079471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55078521 55079471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55080146 55210152 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15,OR4A16 chr11 55081468 55099109 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr1 155092627 155092667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 55096180 55097112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55096180 55097112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55096180 55097112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 550999 554018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC56 chr11 550999 554018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC56 chr11 55100501 55204041 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15,OR4A16 chr1 15510241 15518451 Gain and loss Pancreatic cancer SNP array 17952125 TMEM51 chr11 55108112 55198894 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15,OR4A16 chr11 55108112 55209553 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15,OR4A16 chr1 155110861 155114331 Gain and loss Pancreatic cancer SNP array 17952125 DPM3,SLC50A1 chr11 55111294 55209585 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15,OR4A16 chr11 55115601 55226935 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4A15 chr11 55117586 55275281 Copy number gain Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55117986 55210152 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55117996 55217246 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 OR4A15 chr11 55118007 55209585 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55118014 55209826 Copy number Incontinentia Pigmenti Agilent SurePrint G23 one Million microarrays 22033527 OR4A15 chr11 55118957 55222293 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55118957 56299449 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr11 55118957 56377831 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr11 55119227 55217137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4A15 chr11 55120667 55120767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 55120934 55208028 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55208028 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55208708 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55214226 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55214226 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55214226 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55218986 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55218986 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55221382 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 55267315 Copy number gain Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55120934 56051200 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4A15,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H2,OR8H3,OR8I2,OR8J3,OR8K5,TRIM51 chr11 55121253 55209637 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OR4A15 chr11 55121501 55216000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR4A15 chr11 55123401 55214226 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55123401 55214226 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55123401 55219243 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4A15 chr11 55123743 55209569 Gain Normal 244K array 17666407 OR4A15 chr11 55124465 55209499 Deletion Medulloblastoma Illumina SNP arrays 21163964 OR4A15 chr11 55124730 55195049 Deletion Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 OR4A15 chr11 55127493 55128425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55127493 55128425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55127493 55128425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55127597 55204003 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 OR4A15 chr1 155130136 155152850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTCAP2,TRIM46 chr1 155130136 155152850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTCAP2,TRIM46 chr11 55130596 55142961 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4A15 chr11 55130596 55198882 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4A15 chr11 55130596 55210165 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 OR4A15 chr11 55130608 55209585 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OR4A15 chr11 55130608 55209585 Loss Normal Birdsuite, version 1.5.2 22087296 OR4A15 chr11 55130608 55210152 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55130764 55209499 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55130764 55209553 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55130764 55209585 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55132587 55196554 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55132587 55198882 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55132587 55198882 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4A15 chr11 55132812 55210152 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55132825 55196554 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55132837 55198894 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55132837 55210152 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55132845 55210139 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 OR4A15 chr11 55133062 55191691 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4A15 chr11 55133062 55198882 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4A15 chr11 55133087 55209585 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4A15 chr11 55133198 55198882 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4A15 chr11 55134442 55253629 Duplication Normal Affymetrix 6.0 microarrays 20967226 OR4A15 chr1 155136852 155139759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55136864 55136944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 155143954 155144666 Gain and loss Pancreatic cancer SNP array 17952125 KRTCAP2 chr11 55147894 55151639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 55149956 55150041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 155151242 155151292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM46 chr1 155151501 155761000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASH1L,ASH1L-AS1,CLK2,DAP3,FAM189B,FDPS,GBA,GBAP1,GON4L,HCN3,MIR555,MIR92B,MSTO1,MSTO2P,MTX1,MUC1,PKLR,POU5F1P4,RUSC1,RUSC1-AS1,SCAMP3,THBS3,TRIM46,YY1AP1 chr1 155157048 155169496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR92B,MUC1,THBS3,TRIM46 chr1 155157048 155169496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR92B,MUC1,THBS3,TRIM46 chr11 55159378 55210140 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 55162410 55163348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55162410 55163348 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55162410 55163348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155171257 155281786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLK2,FAM189B,FDPS,GBA,GBAP1,HCN3,MTX1,PKLR,SCAMP3,THBS3 chr1 155171257 155281786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLK2,FAM189B,FDPS,GBA,GBAP1,HCN3,MTX1,PKLR,SCAMP3,THBS3 chr1 155172547 155172660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THBS3 chr11 55174956 55175891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55174956 55175891 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55174956 55175891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55178911 55360217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OR4C15,OR4C16 chr1 155181385 155182329 Gain and loss Pancreatic cancer SNP array 17952125 MTX1 chr11 55186202 55190738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55186202 55190738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55187106 55732908 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D16,OR5D18,OR5I1,OR5L1,OR5L2,OR5W2,TRIM51 chr11 55189219 55190148 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55191398 55200074 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr1 155192059 156076286 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF2,ASH1L,ASH1L-AS1,CLK2,DAP3,FAM189B,FDPS,GBA,GBAP1,GON4L,HCN3,KIAA0907,LAMTOR2,LMNA,MEX3A,MIR555,MSTO1,MSTO2P,PKLR,POU5F1P4,RAB25,RIT1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SNORA42,SSR2,SYT11,UBQLN4,YY1AP1 chr11 55200075 55210321 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr1 155202046 155203729 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55202443 55213327 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 55207563 55208324 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55207563 55208324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55208028 55222293 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 55210140 55766763 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5L1,OR5L2,OR5W2,OR7E5P,TRIM51 chr11 55214226 56235498 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr11 55214226 56332204 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr11 55214226 56388975 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr11 55214226 56468132 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G9,TRIM51 chr11 55214226 56602794 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,TRIM51 chr11 55214226 56615053 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,TRIM51 chr11 55214226 56725111 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,TRIM51 chr11 55216263 55378460 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4C11,OR4C15,OR4C16 chr11 55218986 56224140 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr11 55218986 56287542 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr1 155222171 155222465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM189B chr11 55222293 56235498 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr11 5522367 5523311 Gain and loss Pancreatic cancer SNP array 17952125 OR51B5 chr11 55225501 55227000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 55227001 56808000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AK2,OR5AK4P,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,TRIM51 chr1 1552426 1552526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIB2 chr11 55245524 55245851 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 55248049 134082843 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AASDHPPT,ABCG4,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4C11,OR4C15,OR4C16,OR4C6,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR4P4,OR4S2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM51,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr1 155248425 155249366 Gain and loss Pancreatic cancer SNP array 17952125 HCN3 chr11 55250383 55251210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55250467 55251114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155262774 155263748 Gain and loss Pancreatic cancer SNP array 17952125 PKLR chr1 155274082 155274837 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55279056 55280009 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55279056 55280009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15528254 15528328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM51 chr1 15528530 15543886 Gain and loss Pancreatic cancer SNP array 17952125 TMEM51 chr1 155285485 155285874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FDPS chr1 155294899 155294934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUSC1 chr1 155295647 155297178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUSC1 chr11 55297490 55298434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55297490 55298434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55297490 55298434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155309673 155311118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASH1L chr11 55318744 57212436 Copy number Lung cancer paired-end sequencing 18438408 APLNR,LRRC55,OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AK2,OR5AK4P,OR5AP2,OR5AR1,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,P2RX3,PRG2,PRG3,SLC43A3,SSRP1,TNKS1BP1,TRIM51 chr11 55319608 55320552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55319608 55320552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55319608 55320552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55320321 55320501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 55324594 56390781 LOH Normal High-resolution SNP genotyping 21211785 OR10AG1,OR4C11,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,TRIM51 chr1 155328460 155336224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASH1L chr1 155328460 155336224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASH1L chr1 155329991 155330968 Gain and loss Pancreatic cancer SNP array 17952125 ASH1L chr11 55335519 55336454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55335519 55336454 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55335519 55336454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55343676 55344623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55343676 55344623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55343682 55344608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155345514 155346467 Gain and loss Pancreatic cancer SNP array 17952125 ASH1L chr1 1 553500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX11L1,FAM138A,FAM138F,LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P chr11 55351271 55352206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55351271 55352206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155361257 155374801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASH1L chr1 155361257 155374801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASH1L chr1 155361782 155362711 Gain and loss Pancreatic cancer SNP array 17952125 ASH1L chr11 55362804 55363790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55362804 55363790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155364778 155365087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASH1L chr11 55380049 55380576 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55380049 55380576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5538773 5539723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5538773 5539723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5538809 5539702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155389302 155390243 Gain and loss Pancreatic cancer SNP array 17952125 ASH1L chr1 155394093 155469561 Gain and loss Pancreatic cancer SNP array 17952125 ASH1L,POU5F1P4 chr11 55396860 55398314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155399313 155399413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASH1L chr11 55403143 56067712 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 OR10AG1,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5T1,OR5T2,OR5T3,OR5W2,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J3,OR8K5,TRIM51 chr11 55407348 55415858 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 55409460 55415858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55409460 55415858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55410032 55415858 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5541538 5722264 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 OR52B6,OR52H1,TRIM22,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34 chr11 55423992 55424287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 55427477 55427963 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55437702 55438634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55437702 55438634 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55437702 55438634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55439371 55644830 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 chr1 155440487 155442005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASH1L chr11 5544484 5545422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15545002 155148010 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ACTL8,ADAM15,ADAM30,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,AQP10,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARNT,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf63,C1orf64,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CREB3L4,CRNN,CROCC,CROCCP2,CROCCP3,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FBLIM1,FBXO42,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GADD45A,GALE,GATAD2B,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAX1,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,IL6R,ILF2,INADL,INPP5B,INSL5,INTS3,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNN3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505666,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR11,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NOTCH2,NOTCH2NL,NPR1,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,NUP210L,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PBXIP1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLEKHO1,PLK3,PMVK,PNRC2,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PYGO2,RAB13,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RFX5,RHBDL2,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SDHB,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A34,SLC25A3P1,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 55453203 67220331 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTN3,ADRBK1,AHNAK,ANKRD13D,AP5B1,APLNR,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf31,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CFL1,CHRM1,CLCF1,CLP1,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CST6,CTNND1,CTSF,CTSW,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DNAJC4,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM89B,FAU,FEN1,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL3ST3,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LINC00301,LOC100130348,LOC100130987,LOC100996455,LOC254100,LOC283194,LPXN,LRFN4,LRRC10B,LRRC55,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR1908,MIR192,MIR194-2,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR548AR,MIR611,MIR612,MPEG1,MRPL11,MRPL16,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,OTUB1,OVOL1,P2RX3,PACS1,PATL1,PC,PCNXL3,PELI3,PGA3,PGA4,PGA5,PLA2G16,PLAC1L,PLCB3,POLA2,POLD4,POLR2G,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PRDX5,PRG2,PRG3,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RPS6KB2,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SF1,SF3B2,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSRP1,SSSCA1,STIP1,STX3,STX5,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TRIM51,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBE2L6,UBXN1,VEGFB,VPS37C,VPS51,VWCE,WDR74,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 55453721 72471754 Copy number Lung cancer paired-end sequencing 18438408 ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,APLNR,ARAP1,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf31,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHKA,CHRM1,CLCF1,CLP1,CLPB,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTNND1,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DHCR7,DKFZP434K028,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM86C1,FAM86C2P,FAM89B,FAU,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283194,LPXN,LRFN4,LRP5,LRRC10B,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR548AR,MIR548K,MIR611,MIR612,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,PACS1,PATL1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,POLA2,POLD4,POLR2G,PPFIA1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRG2,PRG3,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RNF121,ROM1,RPLP0P2,RPS6KA4,RPS6KB2,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TPCN2,TRIM51,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBE2L6,UBXN1,UNC93B1,VEGFB,VPS37C,VPS51,VWCE,WDR74,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 55459508 55460452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55459508 55460452 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55459508 55460452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55481699 55481964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55481699 55481964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155482541 155483515 Gain and loss Pancreatic cancer SNP array 17952125 ASH1L chr11 5549053 5549998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55491610 55492515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55491610 55492515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55491610 55492515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55502754 55510457 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 55502755 55510457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55503409 55504032 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155506976 155507975 Gain and loss Pancreatic cancer SNP array 17952125 ASH1L chr11 55517733 55518677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55517733 55518677 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55517733 55518677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155537751 155538710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55539090 55540009 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55539090 55540009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155548607 155549545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55554471 55555445 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 55554471 55555445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55554471 55555445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55554471 55555445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155559545 155560498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55578417 55579355 Gain and loss Pancreatic cancer SNP array 17952125 OR5L1 chr11 55578591 55579355 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR5L1 chr11 55578591 55579355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR5L1 chr11 5558683 5559690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5558683 5559690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5558746 5559690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155591262 155592198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55595082 55595852 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR5L2 chr11 55595082 55595852 Gain and loss Pancreatic cancer SNP array 17952125 OR5L2 chr11 55595082 55595852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR5L2 chr1 155614230 155632366 Gain and loss Pancreatic cancer SNP array 17952125 YY1AP1 chr11 55617360 55618292 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 55617360 55618292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55617360 55618292 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55617360 55618292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55629095 55630033 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 55629095 55630033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55629095 55630033 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55629095 55630033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15564103 15596096 Gain and loss Pancreatic cancer SNP array 17952125 FHAD1 chr11 55646425 55665443 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIM51 chr11 55646425 55665443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM51 chr11 55646425 55665443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM51 chr11 55646428 55647342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55660823 55661770 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 55660823 55661770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55660823 55661770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55660823 55661770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55681848 55713339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR5I1,OR5W2 chr11 55681848 55713339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR5I1,OR5W2 chr11 55681848 55713339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR5I1,OR5W2 chr11 55683446 55684369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55700000 135006516 Gain Basal cell lymphoma Array CGH 16317097 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5F1,OR5I1,OR5J2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 55700000 135006516 Gain Diffuse large b-cell lymphoma Array CGH 16317097 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10AG1,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5F1,OR5I1,OR5J2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR7E5P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 55700000 63400000 Amplification Esophageal squamous carcinoma CGH 18350619 AHNAK,APLNR,ASRGL1,ATL3,B3GAT3,BEST1,BSCL2,BTBD18,C11orf10,C11orf31,C11orf48,C11orf83,C11orf9,CCDC86,CD5,CD6,CHRM1,CLP1,CNTF,CPSF7,CTNND1,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DTX4,EEF1G,EML3,FADS1,FADS2,FADS3,FAM111A,FAM111B,FEN1,FTH1,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,LGALS12,LINC00301,LOC283194,LPXN,LRRC10B,LRRC55,LRRN4CL,MED19,METTL12,MIR130A,MIR1908,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR611,MPEG1,MRPL16,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5F1,OR5I1,OR5J2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PGA3,PGA4,PGA5,PLA2G16,PLAC1L,POLR2G,PPP1R32,PRG2,PRG3,PRPF19,PTGDR2,RAB3IL1,RARRES3,ROM1,RPLP0P2,RTN4RL2,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SDHAF2,SERPING1,SLC15A3,SLC22A10,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SSRP1,STX3,STX5,SYT7,TAF6L,TCN1,TIMM10,TMEM109,TMEM132A,TMEM138,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TTC9C,TUT1,UBE2L6,UBXN1,VPS37C,VWCE,WDR74,YPEL4,ZBTB3,ZDHHC5,ZFP91,ZFP91-CNTF,ZP1 chr11 55700000 63400000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 AHNAK,APLNR,ASRGL1,ATL3,B3GAT3,BEST1,BSCL2,BTBD18,C11orf10,C11orf31,C11orf48,C11orf83,C11orf9,CCDC86,CD5,CD6,CHRM1,CLP1,CNTF,CPSF7,CTNND1,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DTX4,EEF1G,EML3,FADS1,FADS2,FADS3,FAM111A,FAM111B,FEN1,FTH1,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,LGALS12,LINC00301,LOC283194,LPXN,LRRC10B,LRRC55,LRRN4CL,MED19,METTL12,MIR130A,MIR1908,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR611,MPEG1,MRPL16,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5F1,OR5I1,OR5J2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PGA3,PGA4,PGA5,PLA2G16,PLAC1L,POLR2G,PPP1R32,PRG2,PRG3,PRPF19,PTGDR2,RAB3IL1,RARRES3,ROM1,RPLP0P2,RTN4RL2,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SDHAF2,SERPING1,SLC15A3,SLC22A10,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SSRP1,STX3,STX5,SYT7,TAF6L,TCN1,TIMM10,TMEM109,TMEM132A,TMEM138,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TTC9C,TUT1,UBE2L6,UBXN1,VPS37C,VWCE,WDR74,YPEL4,ZBTB3,ZDHHC5,ZFP91,ZFP91-CNTF,ZP1 chr11 55700000 63400000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AHNAK,APLNR,ASRGL1,ATL3,B3GAT3,BEST1,BSCL2,BTBD18,C11orf10,C11orf31,C11orf48,C11orf83,C11orf9,CCDC86,CD5,CD6,CHRM1,CLP1,CNTF,CPSF7,CTNND1,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DTX4,EEF1G,EML3,FADS1,FADS2,FADS3,FAM111A,FAM111B,FEN1,FTH1,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,LGALS12,LINC00301,LOC283194,LPXN,LRRC10B,LRRC55,LRRN4CL,MED19,METTL12,MIR130A,MIR1908,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR611,MPEG1,MRPL16,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5F1,OR5I1,OR5J2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PGA3,PGA4,PGA5,PLA2G16,PLAC1L,POLR2G,PPP1R32,PRG2,PRG3,PRPF19,PTGDR2,RAB3IL1,RARRES3,ROM1,RPLP0P2,RTN4RL2,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SDHAF2,SERPING1,SLC15A3,SLC22A10,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SSRP1,STX3,STX5,SYT7,TAF6L,TCN1,TIMM10,TMEM109,TMEM132A,TMEM138,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TTC9C,TUT1,UBE2L6,UBXN1,VPS37C,VWCE,WDR74,YPEL4,ZBTB3,ZDHHC5,ZFP91,ZFP91-CNTF,ZP1 chr11 55700000 65900000 Copy number Pituitary adenoma References 18645599 AHNAK,AP5B1,APLNR,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,BAD,BANF1,BATF2,BEST1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf31,C11orf48,C11orf68,C11orf83,C11orf84,C11orf85,C11orf9,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC86,CCDC88B,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CFL1,CHRM1,CLP1,CNTF,COX8A,CPSF7,CST6,CTNND1,CTSW,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DNAJC4,DPF2,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM89B,FAU,FEN1,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL3ST3,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,KAT5,KCNK4,KCNK7,LGALS12,LINC00301,LOC100130348,LOC100996455,LOC254100,LOC283194,LPXN,LRRC10B,LRRC55,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR1908,MIR192,MIR194-2,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR548AR,MIR611,MIR612,MPEG1,MRPL16,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MUS81,NAA40,NAALADL1,NEAT1,NRXN2,NUDT22,NXF1,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5F1,OR5I1,OR5J2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR6Q1,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,OTUB1,OVOL1,P2RX3,PACS1,PATL1,PCNXL3,PGA3,PGA4,PGA5,PLA2G16,PLAC1L,PLCB3,POLA2,POLR2G,PPP1R14B,PPP1R32,PPP2R5B,PRDX5,PRG2,PRG3,PRPF19,PTGDR2,PYGM,RAB3IL1,RARRES3,RASGRP2,RCOR2,RELA,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SF1,SF3B2,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SSRP1,SSSCA1,STIP1,STX3,STX5,SYT7,SYVN1,TAF6L,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM138,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBE2L6,UBXN1,VEGFB,VPS37C,VPS51,VWCE,WDR74,YPEL4,ZBTB3,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 55700670 55701608 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 55700670 55701608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55700670 55701608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55700670 55701608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155714423 155759591 Gain and loss Pancreatic cancer SNP array 17952125 GON4L,MSTO2P chr1 155721695 156230538 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF2,BGLAP,GON4L,KIAA0907,LAMTOR2,LMNA,MEX3A,PAQR6,PMF1,PMF1-BGLAP,RAB25,RIT1,RXFP4,SCARNA4,SEMA4A,SLC25A44,SMG5,SNORA42,SSR2,SYT11,UBQLN4 chr11 55723767 56301321 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR10AG1,OR5AS1,OR5F1,OR5J2,OR5M3,OR5M8,OR5M9,OR5R1,OR5T1,OR5T2,OR5T3,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8 chr11 55729173 55729676 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55729173 55729697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55734925 55735632 Gain and loss Pancreatic cancer SNP array 17952125 OR10AG1 chr11 55734925 55735632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10AG1 chr11 5573923 5622199 Gain and loss Pancreatic cancer SNP array 17952125 OR52B6,TRIM6,TRIM6-TRIM34 chr11 5573923 5622204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR52B6,TRIM6,TRIM6-TRIM34 chr11 5573923 5622204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR52B6,TRIM6,TRIM6-TRIM34 chr1 1557421 1559893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIB2 chr1 1557421 1559893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIB2 chr1 1557423 1623109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B chr1 1557423 1623109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B chr1 155749790 155788934 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 GON4L chr1 155749791 155788934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GON4L chr1 155749791 155788934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GON4L chr11 55756158 55757147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55756158 55757237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55756158 55757237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155768446 155799641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GON4L chr11 55771322 55771472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 55771946 55777274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55771946 55777274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1557744 1673566 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2,SLC35E2B chr11 55776306 55777274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155782831 155838011 Gain and loss Pancreatic cancer SNP array 17952125 GON4L,SYT11 chr1 155793912 155794640 Loss Normal 244K array 17666407 GON4L chr11 55799691 55800671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55799691 55800671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55799691 55800671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 558001 760000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf35,CDHR5,DEAF1,DRD4,EPS8L2,IRF7,LOC143666,MIR210,MIR210HG,PHRF1,RASSF7,SCT,TALDO1,TMEM80 chr1 155807275 155807489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GON4L chr1 155807286 155807500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GON4L chr11 558089 558198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf35 chr1 155810163 155834494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GON4L,SYT11 chr1 155810163 155834494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GON4L,SYT11 chr11 55814107 55815114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55814107 55815114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55814179 55815114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155817647 155817899 Gain Normal 244K array 17666407 GON4L chr1 155820634 155821001 Loss Normal 244K array 17666407 GON4L chr11 55838249 55838349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 55842359 55843297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55842359 55843297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55842359 55843297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55844612 55895032 Copy number Hematopoietic stem cell StepOnePlus Real-Time PCR System 20738155 OR8H2,OR8H3,OR8I2 chr1 155845348 155859720 Gain and loss Pancreatic cancer SNP array 17952125 SYT11 chr1 155866353 155867142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55870091 55871050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55870091 55871050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55870091 55871050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155872714 155876715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIT1 chr11 55875518 55905772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8H3,OR8J3 chr11 55878654 55904203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8H3 chr11 55881359 55882273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55881380 55882273 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55884299 55885249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55884299 55885249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55884299 55885249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55894419 55906651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8J3 chr11 55896325 55901472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 55897860 55901897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 55898815 55912931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8J3 chr11 55899676 55900605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55899676 55900605 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55899676 55900605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155912895 155937399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF2 chr1 155912895 155937399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF2 chr11 5592608 5596455 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr11 5592608 5596455 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 55936796 55937720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55936796 55937720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5594004 5595542 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 5594077 5595733 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 55941310 55942284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55941310 55942284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55941310 55942284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155945639 155946201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF2 chr1 155954489 155986005 Gain and loss Pancreatic cancer SNP array 17952125 SSR2 chr1 15595518 15595618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHAD1 chr1 155960594 155961434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 155961336 155961425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 155982145 156013546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSR2,UBQLN4 chr1 155982145 156013546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSR2,UBQLN4 chr1 155986170 155989361 Gain and loss Pancreatic cancer SNP array 17952125 SSR2 chr11 55986521 55987453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55986521 55987453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55986521 55987453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15598658 15643532 Gain and loss Pancreatic cancer SNP array 17952125 FHAD1 chr11 55993626 55994549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 55993626 55994549 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 55993626 55994549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15600000 106368585 Loss Chordoma Array CGH 21602918 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,ACTL8,ADC,ADPRHL2,AGBL4,AGL,AGMAT,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf151-NBL1,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf94,C8A,C8B,CACHD1,CAMK2N1,CAP1,CAPZB,CASP9,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD164L2,CD52,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP85,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DDAH1,DDI2,DDOST,DEM1,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO42,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FNBP1L,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR3,GPR88,GPX7,GRHL3,GRIK3,GTF2B,GUCA2A,GUCA2B,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HFM1,HHLA3,HIAT1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100505768,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC644961,LOC646471,LOC646626,LOC653160,LOC728431,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,MACF1,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR9LP,MUL1,MUTYH,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,ODF2L,OLFM3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDZK1IP1,PDZK1IP1-AS1,PEF1,PGM1,PHACTR4,PHC2,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLK3,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKACB,PRPF38A,PSMB2,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SASS6,SCARNA1,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SKINTL,SLC1A7,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SPATA21,SPATA6,SPEN,SPOCD1,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYDE2,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TAS1R2,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC39A,TTC4,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VCAM1,VWA5B1,WASF2,WDR63,WDR65,WDR78,WDTC1,WLS,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 15600000 16720000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 AGMAT,ARHGEF19,C1orf64,CASP9,CELA2A,CELA2B,CLCNKA,CLCNKB,CTRC,DDI2,DNAJC16,EFHD2,EPHA2,FAM131C,FBLIM1,FBXO42,FHAD1,FLJ37453,HSPB7,PLEKHM2,RSC1A1,RSG1,SLC25A34,SPEN,SZRD1,TMEM82,UQCRHL,ZBTB17 chr1 15600000 19100000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ACTL8,AGMAT,ARHGEF10L,ARHGEF19,ATP13A2,C1orf64,CASP9,CELA2A,CELA2B,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,CTRC,DDI2,DNAJC16,EFHD2,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FHAD1,FLJ37453,HSPB7,IGSF21,KLHDC7A,MFAP2,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLEKHM2,RCC2,RSC1A1,RSG1,SDHB,SLC25A34,SPATA21,SPEN,SZRD1,TMEM82,UQCRHL,ZBTB17 chr11 56003540 56004238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56003540 56004238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56014487 56015422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56014487 56015422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56014487 56015422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156014989 156056515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMTOR2,LMNA,MEX3A,RAB25,UBQLN4 chr1 156014989 156056515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMTOR2,LMNA,MEX3A,RAB25,UBQLN4 chr11 56050616 56051314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56050616 56051314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156061916 156097510 Gain and loss Pancreatic cancer SNP array 17952125 LMNA chr11 56066392 56137554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8J1,OR8K1,OR8K3 chr11 56066392 56137554 Gain and loss Pancreatic cancer SNP array 17952125 OR8J1,OR8K1,OR8K3 chr11 56066392 56137554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8J1,OR8K1,OR8K3 chr1 156067330 156078175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMNA chr1 156067330 156078175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMNA chr1 156072577 156091086 Gain and loss Pancreatic cancer SNP array 17952125 LMNA chr1 15608001 15632000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FHAD1 chr1 156089702 156089802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMNA chr1 15609020 15629413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr1 15609020 15629413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr1 1560963 1645632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B chr1 1560963 1645632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B chr1 156097611 156097874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMNA chr1 1 56100000 Amplification Soft tissue tumor 32k BAC microarrays 16732325 AADACL3,AADACL4,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRP8,LRRC38,LRRC41,LRRC42,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4781,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSBP3,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TXLNA,TXNDC12,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP24,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr11 56153005 56153921 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56153005 56153921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr1 156161479 156166276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A44 chr1 156161479 156166276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A44 chr11 56164517 56164833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OR8U8 chr11 56165541 56166491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr11 56165541 56166491 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56165541 56166491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr11 56176605 56643443 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR5AP2,OR5AR1,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5R1,OR8U8,OR9G1,OR9G4,OR9G9 chr1 156186403 156186443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PMF1,PMF1-BGLAP chr11 56187738 56188670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr11 56187738 56188670 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56187738 56188670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr11 56193069 56193996 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56195442 56195542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR8U8 chr11 56196313 56196896 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 OR8U8 chr11 56196356 56196846 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OR8U8 chr1 156204105 156204242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PMF1,PMF1-BGLAP chr11 56206265 56232995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR5M9,OR8U8 chr11 56214282 56214861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr1 156215073 156215989 Gain and loss Pancreatic cancer SNP array 17952125 PAQR6 chr11 56216512 56232225 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR5M9,OR8U8 chr11 56216626 56232474 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR5M9,OR8U8 chr11 56216876 56230981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR5M9,OR8U8 chr11 56217355 56230162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR5M9,OR8U8 chr11 56217647 56229264 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8U8 chr11 56219418 56227848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8U8 chr11 56219905 56229507 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR8U8 chr1 156222622 156223584 Gain and loss Pancreatic cancer SNP array 17952125 SMG5 chr11 56224440 56225357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr11 56224440 56225357 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56224440 56225357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr1 156229687 156336676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf85,CCT3,SMG5,TMEM79,TSACC,VHLL chr1 156229687 156336676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf85,CCT3,SMG5,TMEM79,TSACC,VHLL chr11 5623164 5850164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR52N1,OR52N2,OR52N4,OR52N5,OR56B1,TRIM22,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34 chr11 5623164 5850164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR52N1,OR52N2,OR52N4,OR52N5,OR56B1,TRIM22,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34 chr1 1562321 1595529 Gain and loss Pancreatic cancer SNP array 17952125 CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B chr11 56261038 56267863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr11 56261038 56267863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr1 156261883 156261983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM79 chr11 56264231 56265129 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56264231 56265147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr1 156264369 156264467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf85 chr11 56266880 56267818 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56299314 56300123 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56299314 56300123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr11 56303144 56303367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR8U8 chr11 56303234 56303345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR8U8 chr11 56303351 56303511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR8U8 chr1 156307223 156307353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCT3,TSACC chr1 156317338 156317658 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 156317941 156318870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 15632001 15924000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGMAT,CASP9,CELA2A,CELA2B,CTRC,DNAJC16,EFHD2,FHAD1 chr11 56326136 56343760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr11 56326136 56343760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr1 156332861 156333576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56336687 56336791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR8U8 chr11 56343101 56950300 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC55,OR5AK2,OR5AK4P,OR5AP2,OR5AR1,OR5M1,OR5M10,OR8U8,OR9G1,OR9G4,OR9G9 chr1 156354001 156682900 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOA1BP,BCAN,C1orf61,CRABP2,GPATCH4,HAPLN2,IQGAP3,MEF2D,MIR9-1,NES,RHBG,TTC24 chr11 56357374 77094745 Gain Prostate cancer Array CGH 18632612 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,APLNR,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CLCF1,CLP1,CLPB,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTNND1,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283194,LOC283214,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR611,MIR612,MOGAT2,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,OMP,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5M1,OR6Q1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PATL1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SMTNL1,SNHG1,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,UBE2L6,UBXN1,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 56360738 56419323 Copy number Hematopoietic stem cell StepOnePlus Real-Time PCR System 20738155 OR5AP2,OR5M1,OR8U8 chr1 156370689 156371733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 156373072 156373172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 15637522 15652128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr1 15637522 15652128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr11 56378899 56914492 LOH Normal High-resolution SNP genotyping 21211785 OR5AK2,OR5AK4P,OR5AP2,OR5AR1,OR5M1,OR8U8,OR9G1,OR9G4,OR9G9 chr1 156381161 156381991 Gain and loss Pancreatic cancer SNP array 17952125 C1orf61 chr11 56385380 56386384 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 OR8U8 chr11 56385380 56386384 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 OR8U8 chr1 156396719 156396791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C1orf61 chr11 56400000 110000000 Loss Glioblastoma multiforme conventional CGH 21080181 AASDHPPT,ACAT1,ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALKBH8,AMOTL1,ANAPC15,ANGPTL5,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,AQP11,ARAP1,ARHGAP42,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BEST1,BIRC2,BIRC3,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf54,C11orf65,C11orf67,C11orf68,C11orf70,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CCDC67,CCDC81,CCDC82,CCDC83,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CEP57,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CYBASC3,DAGLA,DAK,DCUN1D5,DDB1,DDI1,DDX10,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DLG2,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,ELMOD1,EML3,ENDOD1,ESRRA,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FRMD8,FTH1,FUT4,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRIA4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,HEPHL1,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS4,INTS5,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100506233,LOC100506368,LOC100996455,LOC101054525,LOC254100,LOC283194,LOC283214,LOC643037,LOC643733,LOC643923,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,ME3,MED17,MED19,MEN1,METTL12,MIR1237,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4488,MIR4489,MIR4490,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NOX4,NPAS4,NPAT,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,ODZ4,OMP,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR7E2P,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PANX1,PATL1,PC,PCF11,PCNXL3,PDE2A,PDGFD,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHOX2A,PICALM,PITPNM1,PIWIL4,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRCP,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SRSF8,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,THRSP,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TPBGL,TPCN2,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,TYR,UBE2L6,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS37C,VPS51,VSTM5,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB3,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 56400000 120700000 Loss Glioblastoma multiforme aCGH 21080181 AASDHPPT,ABCG4,ACAT1,ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BRMS1,BSCL2,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CEP164,CEP57,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCUN1D5,DDB1,DDI1,DDX10,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,ELMOD1,EML3,ENDOD1,ESRRA,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPHL1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IGHMBP2,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283194,LOC283214,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR1237,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR7E2P,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SRSF8,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBX10,TCIRG1,TCN1,TEX12,THRSP,THY1,TIGD3,TIMM10,TIMM8B,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS37C,VPS51,VSTM5,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF259,ZNHIT2,ZP1,ZW10 chr11 56400000 134452384 Copy number Cancer ICA method 16751803 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 56400000 134452384 Loss Seminomas CGH, Comparative expressed sequence hybridisation 18059402 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLNR,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTBD18,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DTX4,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLB1L2,GLB1L3,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283194,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MED19,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPEG1,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10Q1,OR10S1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D5,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6M1,OR6Q1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PATL1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPING1,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SLN,SMTNL1,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSRP1,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TCN1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM10,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TMX2,TMX2-CTNND1,TNKS1BP1,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE2L6,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,YPEL4,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 56400000 59700000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APLNR,BTBD18,C11orf31,CLP1,CNTF,CTNND1,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,LRRC55,MED19,MIR130A,MIR3162,MPEG1,MRPL16,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,STX3,TCN1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF chr11 56400000 59700000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APLNR,BTBD18,C11orf31,CLP1,CNTF,CTNND1,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,LRRC55,MED19,MIR130A,MIR3162,MPEG1,MRPL16,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,STX3,TCN1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF chr11 56400000 61400000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APLNR,BTBD18,C11orf31,CCDC86,CD5,CD6,CLP1,CNTF,CPSF7,CTNND1,CYBASC3,DAK,DDB1,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LINC00301,LOC283194,LPXN,LRRC10B,LRRC55,MED19,MIR130A,MIR3162,MIR4488,MPEG1,MRPL16,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PGA3,PGA4,PGA5,PLAC1L,PPP1R32,PRG2,PRG3,PRPF19,PTGDR2,RPLP0P2,RTN4RL2,SDHAF2,SERPING1,SLC15A3,SLC43A1,SLC43A3,SMTNL1,SSRP1,STX3,SYT7,TCN1,TIMM10,TMEM109,TMEM132A,TMEM138,TMEM216,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,VPS37C,VWCE,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF,ZP1 chr11 56400000 69200000 Loss Glioblastoma multiforme aCGH 21080181 ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANKRD13D,AP5B1,APLNR,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf31,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHKA,CHRM1,CLCF1,CLP1,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTNND1,CTSF,CTSW,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM86C2P,FAM89B,FAU,FEN1,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,INCENP,INTS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LINC00301,LOC100130348,LOC100130987,LOC100996455,LOC254100,LOC283194,LPXN,LRFN4,LRP5,LRRC10B,LRRC55,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR1908,MIR192,MIR194-2,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR548AR,MIR611,MIR612,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NDUFS8,NDUFV1,NEAT1,NPAS4,NRXN2,NUDT22,NUDT8,NXF1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,OTUB1,OVOL1,P2RX3,PACS1,PATL1,PC,PCNXL3,PELI3,PGA3,PGA4,PGA5,PITPNM1,PLA2G16,PLAC1L,PLCB3,POLA2,POLD4,POLR2G,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRG2,PRG3,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RPS6KB2,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SF1,SF3B2,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSRP1,SSSCA1,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TPCN2,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBE2L6,UBXN1,UNC93B1,VEGFB,VPS37C,VPS51,VWCE,WDR74,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 56400000 76700000 Gain Glioblastoma multiforme conventional CGH 21080181 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,APLNR,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CLCF1,CLP1,CLPB,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTNND1,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283194,LOC283214,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR611,MIR612,MOGAT2,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PATL1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SMTNL1,SNHG1,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,UBE2L6,UBXN1,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 56400000 92300000 Gain Multiple myeloma CGH, FISH 16461302 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ANAPC15,ANKRD13D,ANKRD42,ANO1,AP5B1,APLNR,AQP11,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf67,C11orf68,C11orf73,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC81,CCDC83,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DLG2,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM181B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GRM5,GRM5-AS1,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS4,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100506233,LOC100506368,LOC100996455,LOC254100,LOC283194,LOC283214,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,ME3,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4300,MIR4488,MIR4489,MIR4490,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MOGAT2,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NOX4,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,ODZ4,OMP,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR7E2P,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PATL1,PC,PCF11,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PICALM,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRCP,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB30,RAB38,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SMTNL1,SNHG1,SNORA57,SNORA70E,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,THRSP,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM126A,TMEM126B,TMEM132A,TMEM134,TMEM135,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TPBGL,TPCN2,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,TYR,UBE2L6,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 56400000 92300000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ANAPC15,ANKRD13D,ANKRD42,ANO1,AP5B1,APLNR,AQP11,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf67,C11orf68,C11orf73,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC81,CCDC83,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLNS1A,CLP1,CLPB,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CST6,CTNND1,CTSC,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DLG2,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM181B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GRM5,GRM5-AS1,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS4,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100506233,LOC100506368,LOC100996455,LOC254100,LOC283194,LOC283214,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRC55,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,ME3,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4300,MIR4488,MIR4489,MIR4490,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MOGAT2,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NOX4,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,ODZ4,OMP,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR7E2P,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PATL1,PC,PCF11,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PICALM,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRCP,PRDX5,PRG2,PRG3,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB30,RAB38,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SLC43A3,SLCO2B1,SMTNL1,SNHG1,SNORA57,SNORA70E,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSRP1,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,THRSP,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM126A,TMEM126B,TMEM132A,TMEM134,TMEM135,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TNKS1BP1,TPBGL,TPCN2,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,TYR,UBE2L6,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr1 156412264 156414169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5641375 5662869 Gain and loss Pancreatic cancer SNP array 17952125 TRIM34,TRIM6-TRIM34 chr11 56414887 56451930 Gain and loss Pancreatic cancer SNP array 17952125 OR5AR1,OR8U8 chr11 56414887 56451942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR5AR1,OR8U8 chr1 156416361 156422838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156416361 156422838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56430021 56547224 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR5AR1,OR8U8,OR9G1,OR9G4,OR9G9 chr1 156432047 156432545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56438446 56487076 Gain Normal Birdsuite, version 1.5.2 22087296 OR8U8,OR9G1,OR9G9 chr1 15644458 15656911 Gain and loss Pancreatic cancer SNP array 17952125 FHAD1 chr1 15644620 15644720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHAD1 chr1 156448205 156489255 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEF2D chr1 156457917 156457987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEF2D chr11 56470865 56470965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR8U8 chr11 56481254 56801992 Amplification Breast cancer FISH 17142309 OR5AK2,OR8U8,OR9G4 chr1 156490550 156494682 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 156490551 156494680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156490551 156494680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56495101 56495997 Gain and loss Pancreatic cancer SNP array 17952125 OR8U8 chr11 56495101 56495997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR8U8 chr1 156495525 156497437 Gain and loss Pancreatic cancer SNP array 17952125 IQGAP3 chr1 156500000 165500000 Copy number Glomerulonephritis References 19341492 ADAMTS4,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRABP2,CRP,CYCSP52,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,ETV3,ETV3L,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,GPATCH4,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC400794,LOC646268,LRRC71,LY9,MIR4654,MIR5187,MIR556,MIR765,MNDA,MPZ,MRPL24,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PPOX,PRCC,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SDHC,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,TTC24,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 156500000 165500000 Copy number Systemic lupus erythematosus qPCR 18559452 ADAMTS4,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRABP2,CRP,CYCSP52,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,ETV3,ETV3L,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,GPATCH4,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC400794,LOC646268,LRRC71,LY9,MIR4654,MIR5187,MIR556,MIR765,MNDA,MPZ,MRPL24,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PPOX,PRCC,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SDHC,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,TTC24,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 156500000 165500000 Copy number Systemic lupus erythematosus References 19220326 ADAMTS4,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRABP2,CRP,CYCSP52,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,ETV3,ETV3L,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,GPATCH4,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC400794,LOC646268,LRRC71,LY9,MIR4654,MIR5187,MIR556,MIR765,MNDA,MPZ,MRPL24,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PPOX,PRCC,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SDHC,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,TTC24,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 156500000 165500000 Copy number Systemic lupus erythematosus References 19287148 ADAMTS4,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRABP2,CRP,CYCSP52,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,ETV3,ETV3L,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,GPATCH4,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC400794,LOC646268,LRRC71,LY9,MIR4654,MIR5187,MIR556,MIR765,MNDA,MPZ,MRPL24,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PPOX,PRCC,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SDHC,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,TTC24,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 156500000 165500000 Duplication Systemic autoimmune disease references 17597778 ADAMTS4,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRABP2,CRP,CYCSP52,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,ETV3,ETV3L,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,GPATCH4,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC400794,LOC646268,LRRC71,LY9,MIR4654,MIR5187,MIR556,MIR765,MNDA,MPZ,MRPL24,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PPOX,PRCC,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SDHC,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,TTC24,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 156500000 165500000 Loss Glomerulonephritis References 17008540 ADAMTS4,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRABP2,CRP,CYCSP52,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,ETV3,ETV3L,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,GPATCH4,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC400794,LOC646268,LRRC71,LY9,MIR4654,MIR5187,MIR556,MIR765,MNDA,MPZ,MRPL24,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PPOX,PRCC,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SDHC,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,TTC24,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 156500000 165500000 Low copy number Glomerulonephritis - 16482158 ADAMTS4,AIM2,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,B4GALT3,BCAN,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRABP2,CRP,CYCSP52,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,ETV3,ETV3L,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,GPATCH4,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC400794,LOC646268,LRRC71,LY9,MIR4654,MIR5187,MIR556,MIR765,MNDA,MPZ,MRPL24,NCSTN,NDUFS2,NES,NHLH1,NIT1,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGM,PPOX,PRCC,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SDHC,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,TTC24,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 156500000 172900000 Amplification Soft tissue tumor 32k BAC microarrays 16732325 ADAMTS4,ADCY10,AIM2,ALDH9A1,ANKRD36BP1,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,ATP1B1,B4GALT3,BCAN,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,COPA,CRABP2,CREG1,CRP,CYCSP52,DARC,DCAF6,DCAF8,DDR2,DEDD,DNM3,DNM3OS,DPT,DUSP12,DUSP23,DUSP27,ETV3,ETV3L,F11R,F5,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GORAB,GPA33,GPATCH4,GPR161,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ILDR2,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIFAP3,KIRREL,KLHDC9,LINC00626,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC100505918,LOC284688,LOC400794,LOC440700,LOC646268,LRRC52,LRRC71,LY9,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR4654,MIR5187,MIR556,MIR557,MIR765,MIR921,MNDA,MPC2,MPZ,MPZL1,MRPL24,MYOC,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGC,PIGM,POGK,POU2F1,PPOX,PRCC,PRRC2C,PRRX1,PVRL4,PYHIN1,RCSD1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SCYL3,SDHC,SELE,SELL,SELP,SFT2D2,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SPTA1,SUCO,SUMO1P3,TADA1,TAGLN2,TBX19,TIPRL,TMCO1,TOMM40L,TOP1P1,TSTD1,TTC24,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2 chr1 156500000 172900000 Gain Cancer Array CGH 17060936 ADAMTS4,ADCY10,AIM2,ALDH9A1,ANKRD36BP1,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,ATP1B1,B4GALT3,BCAN,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,COPA,CRABP2,CREG1,CRP,CYCSP52,DARC,DCAF6,DCAF8,DDR2,DEDD,DNM3,DNM3OS,DPT,DUSP12,DUSP23,DUSP27,ETV3,ETV3L,F11R,F5,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GORAB,GPA33,GPATCH4,GPR161,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ILDR2,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIFAP3,KIRREL,KLHDC9,LINC00626,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC100505918,LOC284688,LOC400794,LOC440700,LOC646268,LRRC52,LRRC71,LY9,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR4654,MIR5187,MIR556,MIR557,MIR765,MIR921,MNDA,MPC2,MPZ,MPZL1,MRPL24,MYOC,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGC,PIGM,POGK,POU2F1,PPOX,PRCC,PRRC2C,PRRX1,PVRL4,PYHIN1,RCSD1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SCYL3,SDHC,SELE,SELL,SELP,SFT2D2,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SPTA1,SUCO,SUMO1P3,TADA1,TAGLN2,TBX19,TIPRL,TMCO1,TOMM40L,TOP1P1,TSTD1,TTC24,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2 chr1 156500000 172900000 Gain Lung cancer array CGH 16740712 ADAMTS4,ADCY10,AIM2,ALDH9A1,ANKRD36BP1,APCS,APOA1BP,APOA2,ARHGAP30,ARHGEF11,ATF6,ATP1A2,ATP1A4,ATP1B1,B4GALT3,BCAN,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD5L,CD84,COPA,CRABP2,CREG1,CRP,CYCSP52,DARC,DCAF6,DCAF8,DDR2,DEDD,DNM3,DNM3OS,DPT,DUSP12,DUSP23,DUSP27,ETV3,ETV3L,F11R,F5,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GORAB,GPA33,GPATCH4,GPR161,HAPLN2,HDGF,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ILDR2,INSRR,IQGAP3,ISG20L2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIFAP3,KIRREL,KLHDC9,LINC00626,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC100505918,LOC284688,LOC400794,LOC440700,LOC646268,LRRC52,LRRC71,LY9,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR4654,MIR5187,MIR556,MIR557,MIR765,MIR921,MNDA,MPC2,MPZ,MPZL1,MRPL24,MYOC,NCSTN,NDUFS2,NES,NHLH1,NIT1,NME7,NOS1AP,NR1I3,NTRK1,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEAR1,PEX19,PFDN2,PIGC,PIGM,POGK,POU2F1,PPOX,PRCC,PRRC2C,PRRX1,PVRL4,PYHIN1,RCSD1,RGS4,RGS5,RPL31P11,RRNAD1,RXRG,SCYL3,SDHC,SELE,SELL,SELP,SFT2D2,SH2D1B,SH2D2A,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SPTA1,SUCO,SUMO1P3,TADA1,TAGLN2,TBX19,TIPRL,TMCO1,TOMM40L,TOP1P1,TSTD1,TTC24,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2 chr1 156503167 156503734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQGAP3 chr11 56512965 56513894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56512965 56513894 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56512965 56513894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156526187 156531188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQGAP3 chr1 156526187 156531188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQGAP3 chr1 156535509 156535609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQGAP3 chr11 56539800 56539900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 156542033 156542441 Gain and loss Pancreatic cancer SNP array 17952125 IQGAP3 chr1 15654633 15654733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHAD1 chr1 15655811 15671167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr1 15655811 15671167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr1 156561597 156561925 Gain Normal 244K array 17666407 APOA1BP chr1 156563832 156565407 Gain and loss Pancreatic cancer SNP array 17952125 APOA1BP,GPATCH4 chr1 156564364 156567945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPATCH4 chr1 156564364 156567945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPATCH4 chr1 156583375 156599114 Gain and loss Pancreatic cancer SNP array 17952125 HAPLN2 chr1 156590164 156593967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAPLN2 chr1 156590164 156593967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAPLN2 chr1 156591077 157602759 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ARHGEF11,BCAN,CRABP2,CYCSP52,ETV3,ETV3L,FCRL4,FCRL5,HAPLN2,HDGF,INSRR,ISG20L2,LRRC71,MIR765,MRPL24,NES,NTRK1,PEAR1,PRCC,RRNAD1,SH2D2A chr1 156591924 156591924 Copy number Prostate cancer Illumina GA II sequencer 21307934 HAPLN2 chr1 156597505 156598217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56599848 59990367 Loss Autism Exome sequencing and CGH 22495309 APLNR,BTBD18,C11orf31,CLP1,CNTF,CTNND1,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,LRRC55,MED19,MIR130A,MIR3162,MPEG1,MRPL16,MS4A2,MS4A3,MS4A6A,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PLAC1L,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,STX3,TCN1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF chr1 156609674 156620354 Gain and loss Pancreatic cancer SNP array 17952125 BCAN chr11 56613461 60165703 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 APLNR,BTBD18,C11orf31,CLP1,CNTF,CTNND1,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,LRRC55,MED19,MIR130A,MIR3162,MPEG1,MRPL16,MS4A14,MS4A2,MS4A3,MS4A4A,MS4A6A,MS4A6E,MS4A7,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,OSBP,P2RX3,PATL1,PLAC1L,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,STX3,TCN1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF chr1 15661884 15679367 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FHAD1 chr1 156621404 156973859 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF11,BCAN,CRABP2,HDGF,INSRR,ISG20L2,LRRC71,MIR765,MRPL24,NES,NTRK1,PEAR1,PRCC,RRNAD1,SH2D2A chr1 156634770 156634835 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 156634936 156635880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156634936 156635880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156637616 156641803 Gain and loss Pancreatic cancer SNP array 17952125 NES chr11 56639457 57976581 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 APLNR,BTBD18,C11orf31,CLP1,CTNND1,LRRC55,MED19,MIR130A,OR1S2,OR5AK2,OR5AK4P,OR6Q1,OR9I1,OR9Q1,OR9Q2,P2RX3,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5 chr11 566486 602220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC143666,MIR210,MIR210HG,PHRF1 chr11 566486 602220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC143666,MIR210,MIR210HG,PHRF1 chr1 15665011 15683808 Loss Normal Birdsuite, version 1.5.2 22087296 FHAD1 chr1 156651247 156651326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 156655231 156683012 Gain and loss Pancreatic cancer SNP array 17952125 CRABP2 chr1 156655597 156657280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156655597 156657280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156663607 156663704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5667495 5688668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM5 chr11 5667495 5688668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM5 chr11 5667586 5688668 Gain and loss Pancreatic cancer SNP array 17952125 TRIM5 chr1 156677379 156677479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 156680403 156680503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 156681493 156682428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156690612 156691687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156700976 156708357 Gain and loss Pancreatic cancer SNP array 17952125 MRPL24,RRNAD1 chr1 156701976 156702917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RRNAD1 chr1 156701976 156702917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRNAD1 chr11 56705797 56714154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56705797 56714154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56705797 56714154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156709902 156728459 Gain and loss Pancreatic cancer SNP array 17952125 HDGF,MRPL24 chr1 156711899 156736717 Copy number Breast cancer whole-genome tiling array-based comparative genomic hybridization 22034095 HDGF chr1 156716292 156717299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDGF chr1 156716292 156717299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDGF chr1 156727633 156728388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156734360 156737117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1567501 1686000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDK11A,CDK11B,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B chr1 156751199 156752339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRCC chr1 15675183 15690479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr1 15675183 15690479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr11 56754209 57542310 LOH Normal High-resolution SNP genotyping 21211785 APLNR,BTBD18,C11orf31,CLP1,CTNND1,LRRC55,MED19,MIR130A,OR5AK2,OR5AK4P,P2RX3,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5 chr11 56755754 56755854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 56757629 56761489 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 56757629 56761489 Gain or loss Cancer - 20668451 NOT_FOUND chr11 56757629 56761489 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 56757629 56761489 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 56757629 56761489 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 56757629 56761489 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 56757630 56761302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56757630 56761302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56757630 56761364 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56758707 57392387 LOH Normal High-resolution SNP genotyping 21211785 APLNR,LRRC55,OR5AK4P,P2RX3,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,TIMM10,TNKS1BP1,UBE2L6 chr1 156760086 156762252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRCC chr1 156760086 156762252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRCC chr1 15676398 15676844 Gain and loss Pancreatic cancer SNP array 17952125 FHAD1 chr11 5677031 5677373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 156783542 156784519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH2D2A chr1 156783542 156784519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH2D2A chr11 56789247 56789342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 15679884 15679947 Gain and loss Pancreatic cancer SNP array 17952125 FHAD1 chr1 156799065 156800018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK1 chr1 156803866 156992481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF11,INSRR,LRRC71,MIR765,NTRK1,PEAR1 chr1 156811659 156811732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INSRR,NTRK1 chr1 156813331 156814602 Gain and loss Pancreatic cancer SNP array 17952125 INSRR,NTRK1 chr1 156815333 156816313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INSRR,NTRK1 chr1 156815333 156816313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INSRR,NTRK1 chr1 156815969 156847368 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INSRR,NTRK1 chr1 156821108 156853111 Gain and loss Pancreatic cancer SNP array 17952125 INSRR,NTRK1 chr11 56823678 56848989 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr11 56823679 56848989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56823679 56848989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56823694 56848969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 156835590 156835728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK1 chr1 156842853 156843794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK1 chr1 156842853 156843794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK1 chr1 156847020 156923130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11,LRRC71,MIR765,NTRK1,PEAR1 chr1 156847020 156923130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11,LRRC71,MIR765,NTRK1,PEAR1 chr1 156847119 156923130 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 ARHGEF11,LRRC71,MIR765,NTRK1,PEAR1 chr11 56850036 56859927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56850036 56859927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56850036 56859927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56852911 56853011 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56852911 56853011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156856243 156856302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 56862525 56894125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56862525 56894125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56862525 56894125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156862577 156862577 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr1 156864433 156872285 Gain and loss Pancreatic cancer SNP array 17952125 PEAR1 chr11 56865377 57532499 Deletion Breast cancer FISH 17142309 APLNR,BTBD18,C11orf31,CLP1,CTNND1,LRRC55,MED19,MIR130A,P2RX3,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5 chr11 56866557 58203831 LOH Normal High-resolution SNP genotyping 21211785 APLNR,BTBD18,C11orf31,CLP1,CTNND1,LRRC55,MED19,MIR130A,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B17,OR5B2,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,P2RX3,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5 chr11 5686953 5927293 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR52E4,OR52E6,OR52E8,OR52N1,OR52N2,OR52N4,OR52N5,OR56B1,TRIM22,TRIM5 chr11 5686953 5927293 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR52E4,OR52E6,OR52E8,OR52N1,OR52N2,OR52N4,OR52N5,OR56B1,TRIM22,TRIM5 chr1 156872381 156872381 Copy number Prostate cancer Illumina GA II sequencer 21307934 PEAR1 chr1 15687322 15723527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr1 15687322 15723527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHAD1 chr1 156873885 156874008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PEAR1 chr1 156874204 156881498 Gain and loss Pancreatic cancer SNP array 17952125 PEAR1 chr1 156883812 156926445 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF11,LRRC71,MIR765,PEAR1 chr1 15689344 15723773 Gain and loss Pancreatic cancer SNP array 17952125 FHAD1 chr1 156895996 156896323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC71 chr1 156897805 158064127 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF11,CD5L,CYCSP52,ETV3,ETV3L,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,KIRREL,LRRC71,MIR765 chr1 156897805 158095391 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF11,CD5L,CYCSP52,ETV3,ETV3L,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,KIRREL,LRRC71,MIR765 chr1 15689910 15723971 Gain or loss Breast cancer - 20668451 FHAD1 chr1 15689910 15723971 Gain or loss Cancer - 20668451 FHAD1 chr1 15689910 15723971 Gain or loss Lung cancer - 20668451 FHAD1 chr1 15689910 15723971 Gain or loss Ovarian cancer - 20668451 FHAD1 chr1 15689910 15723971 Gain or loss Pancreas cancer - 20668451 FHAD1 chr1 15689910 15723971 Gain or loss Prostate cancer - 20668451 FHAD1 chr1 15690034 15690134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHAD1 chr11 56900819 56905199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56900819 56905199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56900819 56905199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56910843 56914688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56910843 56914688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56911411 56914706 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56925428 56925528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 156930953 156931923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr11 56931005 56951629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC55 chr11 56931005 56951629 Gain and loss Pancreatic cancer SNP array 17952125 LRRC55 chr11 56931005 56951629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC55 chr1 156934436 156969836 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF11 chr1 156936092 156937066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 156936092 156937066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr11 56950301 57329800 Copy number Normal ReadDepth: A Parallel R Package 21305028 APLNR,LRRC55,P2RX3,PRG2,PRG3,RTN4RL2,SLC43A1,SLC43A3,SMTNL1,SSRP1,TIMM10,TNKS1BP1,UBE2L6 chr1 156953582 156954577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 156953582 156954577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 156960527 156961526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr11 56966573 57713812 LOH Normal High-resolution SNP genotyping 21211785 APLNR,BTBD18,C11orf31,CLP1,CTNND1,MED19,MIR130A,P2RX3,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5 chr11 56970212 56970312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5697096 5698018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM5 chr1 156973467 156984752 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF11 chr11 56974232 56974321 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56974232 56974321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56975739 56976071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56975741 56975976 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 56975741 56975976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 156978560 156979829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 156978656 156978977 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF11 chr11 56984893 57001005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56984893 57001005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 56984915 57000960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 156986621 156992481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF11 chr1 156988198 156998233 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF11 chr11 56990242 56990342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 156991230 156992261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 156991230 156992261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 156993464 156994771 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ARHGEF11 chr1 156993475 156994558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF11 chr1 156993550 156994633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF11 chr1 156998578 157045299 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF11 chr1 157002158 157003096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 157002158 157003096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr11 57003304 57003389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APLNR chr11 57008586 57039735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57008586 57039735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57008586 57039735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157013096 157014049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 157013096 157014049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF11 chr1 157032428 157032627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157035914 157080893 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETV3L chr11 5704308 5705270 Gain and loss Pancreatic cancer SNP array 17952125 TRIM5 chr11 5704308 5705270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM5 chr1 157044813 157045749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157049586 157050053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57052514 57054808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57052514 57054808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57052537 57054790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157059680 157068004 Gain and loss Pancreatic cancer SNP array 17952125 ETV3L chr11 57066692 57074161 Gain and loss Pancreatic cancer SNP array 17952125 TNKS1BP1 chr11 57066692 57074684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNKS1BP1 chr11 57066692 57074684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNKS1BP1 chr1 157067785 157085928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ETV3L chr1 157067785 157085928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETV3L chr1 157072136 157126277 Gain and loss Pancreatic cancer SNP array 17952125 CYCSP52,ETV3 chr11 57075186 57075280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNKS1BP1 chr11 57075705 57092333 Gain and loss Pancreatic cancer SNP array 17952125 TNKS1BP1 chr11 57075705 57103217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSRP1,TNKS1BP1 chr11 57075705 57103217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSRP1,TNKS1BP1 chr1 157083012 157083087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57085000 58516245 LOH Normal High-resolution SNP genotyping 21211785 BTBD18,C11orf31,CLP1,CNTF,CTNND1,GLYAT,LPXN,MED19,MIR130A,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,P2RX3,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,SSRP1,TIMM10,TMX2,TMX2-CTNND1,TNKS1BP1,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF chr1 157085948 157259892 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CYCSP52,ETV3 chr11 57100413 57101092 Gain and loss Pancreatic cancer SNP array 17952125 SSRP1 chr1 157108968 157109079 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157108969 157109079 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57110434 57110870 Gain and loss Pancreatic cancer SNP array 17952125 P2RX3 chr1 157115160 157119914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57118272 57118372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 P2RX3 chr1 157118278 157118333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 57120000 57600000 Gain Breast cancer aCGH 21509527 BTBD18,C11orf31,CLP1,CTNND1,MED19,MIR130A,P2RX3,PRG2,PRG3,RTN4RL2,SERPING1,SLC43A1,SLC43A3,SMTNL1,TIMM10,TMX2,TMX2-CTNND1,UBE2L6,YPEL4,ZDHHC5 chr11 57121436 57138902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P2RX3 chr11 57121436 57138902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RX3 chr11 57121734 57138895 Gain and loss Pancreatic cancer SNP array 17952125 P2RX3 chr1 157126127 157141811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157132201 157138600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 157134135 157136615 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 157134135 157136615 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 157134152 157136674 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 157134155 157136605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 5714254 5716294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM22 chr11 5714254 5716294 Gain and loss Pancreatic cancer SNP array 17952125 TRIM22 chr11 5714254 5716294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM22 chr11 5714322 5715297 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TRIM22 chr11 5714701 5720800 Deletion Glioma mate-paired sequence 20126413 TRIM22 chr11 57147636 57147722 Gain and loss Pancreatic cancer SNP array 17952125 PRG3 chr11 57147636 57147722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRG3 chr1 157149947 157155673 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57165247 57165335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57165247 57165335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5716659 5718948 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TRIM22 chr11 5716664 5718940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIM22 chr11 5716697 5725479 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TRIM22 chr1 157167966 157213468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157167966 157213468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157168043 157168120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57169135 57173993 Deletion Angio-oedema Quantitative real-time PCR 21790735 NOT_FOUND chr11 57169137 57173993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57169137 57173993 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57169137 57173993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5716929 5718946 Loss or gain Normal 244K array 17666407 TRIM22 chr1 157170210 157170310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 157175628 157175772 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157175631 157175772 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157178545 157178545 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr11 57181206 57185910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC43A3 chr11 57181206 57185910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC43A3 chr11 57181206 57185912 Gain and loss Pancreatic cancer SNP array 17952125 SLC43A3 chr11 57191944 57225235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC43A3 chr11 57191944 57225235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC43A3 chr11 57192050 57225235 Gain and loss Pancreatic cancer SNP array 17952125 SLC43A3 chr1 157198001 157200000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 157198539 157211533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57199989 57204696 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 57218392 57218492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57227757 57236249 Deletion Angio-oedema Quantitative real-time PCR 21790735 RTN4RL2 chr11 57227757 57236249 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 RTN4RL2 chr11 57227765 57236249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL2 chr11 57227765 57236249 Gain and loss Pancreatic cancer SNP array 17952125 RTN4RL2 chr11 57227765 57236249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL2 chr1 157227826 157233464 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 157227975 157232830 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 157227976 157232825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 157227980 157232830 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 57228011 66637586 Copy number Lung cancer paired-end sequencing 18438408 ACTN3,AHNAK,AP5B1,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,BTBD18,C11orf10,C11orf20,C11orf31,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf9,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CFL1,CHRM1,CLP1,CNIH2,CNTF,COX8A,CPSF7,CST6,CTNND1,CTSF,CTSW,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DNAJC4,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM89B,FAU,FEN1,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL3ST3,GANAB,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,KAT5,KCNK4,KCNK7,KLC2,LGALS12,LINC00301,LOC100130348,LOC100996455,LOC254100,LOC283194,LPXN,LRFN4,LRRC10B,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MED19,MEN1,METTL12,MIR1237,MIR130A,MIR1908,MIR192,MIR194-2,MIR3162,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR548AR,MIR611,MIR612,MPEG1,MRPL11,MRPL16,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,NXF1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,OSBP,OTUB1,OVOL1,PACS1,PATL1,PC,PCNXL3,PELI3,PGA3,PGA4,PGA5,PLA2G16,PLAC1L,PLCB3,POLA2,POLR2G,PPP1R14B,PPP1R32,PPP2R5B,PRDX5,PRPF19,PTGDR2,PYGM,RAB1B,RAB3IL1,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RTN3,RTN4RL2,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPING1,SF1,SF3B2,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLC43A1,SMTNL1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSSCA1,STIP1,STX3,STX5,SYT7,SYVN1,TAF6L,TCN1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMX2,TMX2-CTNND1,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBE2L6,UBXN1,VEGFB,VPS37C,VPS51,VWCE,WDR74,YIF1A,YPEL4,ZBTB3,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr1 157228357 157232921 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 157236382 157291569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157236382 157291569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57236617 57343228 Deletion Angio-oedema Quantitative real-time PCR 21790735 RTN4RL2,SLC43A1,SMTNL1,TIMM10,UBE2L6 chr11 57236618 57265020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL2,SLC43A1 chr11 57236618 57343226 Gain and loss Pancreatic cancer SNP array 17952125 RTN4RL2,SLC43A1,SMTNL1,TIMM10,UBE2L6 chr11 57242094 57242578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL2 chr11 57242094 57242590 Gain and loss Pancreatic cancer SNP array 17952125 RTN4RL2 chr1 157243984 157244084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57247585 57247864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157248578 157248678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57255129 57272935 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC43A1 chr11 57258483 58446793 LOH Normal High-resolution SNP genotyping 21211785 BTBD18,C11orf31,CLP1,CNTF,CTNND1,LPXN,MED19,MIR130A,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,SERPING1,SLC43A1,SMTNL1,TIMM10,TMX2,TMX2-CTNND1,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF chr1 15725895 15775174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTRC,EFHD2 chr1 15725895 15775174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTRC,EFHD2 chr11 57265297 57267459 Copy number Gastric cancer Human cDNA microarrays 17229543 SLC43A1 chr11 57265298 57267459 Gain and loss Pancreatic cancer SNP array 17952125 SLC43A1 chr11 57265644 57266265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC43A1 chr1 157267893 157306125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5726946 5741060 Loss Normal 244K array 17666407 TRIM22 chr11 57269704 57269794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC43A1 chr1 157279390 157286455 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 5728192 5756440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM22 chr11 5728192 5756440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM22 chr11 57285810 57353279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMTNL1,TIMM10,UBE2L6 chr11 57285810 57353279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMTNL1,TIMM10,UBE2L6 chr11 57289217 57307322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TIMM10 chr1 157298665 157313180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157298665 157313180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157300000 158800000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,KIRREL,LOC646268,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,SPTA1 chr1 157300000 158800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,KIRREL,LOC646268,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,SPTA1 chr1 157300000 158800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,KIRREL,LOC646268,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,SPTA1 chr1 157300000 158800000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,KIRREL,LOC646268,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,SPTA1 chr1 157300000 163800000 Gain Breast cancer aCGH 21045282 ADAMTS4,AIM2,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRP,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LOC100131825,LOC100505633,LOC646268,LY9,MIR4654,MIR5187,MIR556,MNDA,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,SDHC,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 157300000 163800000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 ADAMTS4,AIM2,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD48,CD5L,CD84,COPA,CRP,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ITLN1,ITLN2,KCNJ10,KCNJ9,KIRREL,KLHDC9,LOC100131825,LOC100505633,LOC646268,LY9,MIR4654,MIR5187,MIR556,MNDA,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,SDHC,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 15731670 15733523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157317546 157318209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 573216 585582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC143666,PHRF1 chr11 5732547 5733512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5732547 5733512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5732547 5733512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157328867 157362367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57329801 59227300 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTBD18,C11orf31,CLP1,CNTF,CTNND1,DTX4,FAM111A,FAM111B,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,MED19,MIR130A,MPEG1,OR10Q1,OR10W1,OR1S1,OR1S2,OR4D6,OR5A1,OR5A2,OR5AN1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,SERPING1,TMX2,TMX2-CTNND1,UBE2L6,YPEL4,ZDHHC5,ZFP91,ZFP91-CNTF chr11 5733729 5762955 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5733729 5762955 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5733729 5765491 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5735089 5745852 Loss Normal Quantitative PCR 18989455 NOT_FOUND chr1 157353335 157935964 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD5L,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5 chr1 157363400 157363505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 157374666 157374758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5737692 5760205 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5737692 5760205 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5737692 5762955 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5737692 5762955 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5737692 5765491 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5737692 5765491 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5737692 5766088 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5737692 5766088 Total allelic loss Normal High-resolution SNP genotyping 21211785 OR56B1 chr11 5738669 5768809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR56B1 chr1 157391111 157391210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5739242 5782776 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR52N4,OR56B1 chr1 157392962 157430158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5739501 5743981 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 5739677 5765901 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 OR56B1 chr11 57397401 57409400 Deletion Glioma mate-paired sequence 20126413 MIR130A chr11 5739959 5768924 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR56B1 chr11 5740125 5770411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR56B1 chr11 5740488 5765901 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 OR56B1 chr1 157406427 157406511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 157408040 157439556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157408040 157439556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5741060 5765963 Loss or gain Normal 244K array 17666407 OR56B1 chr11 5741150 5765858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OR56B1 chr1 15741247 15741386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFHD2 chr11 5741271 5765938 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 OR56B1 chr1 157414887 157414976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157414896 157414985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5742902 5743866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5742902 5743866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57439351 58215098 LOH Normal High-resolution SNP genotyping 21211785 BTBD18,C11orf31,CTNND1,MED19,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,TMX2,TMX2-CTNND1,ZDHHC5 chr11 5743969 5765703 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR56B1 chr1 157439721 157442914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157439721 157442914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5743981 5744656 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 5743981 5765715 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR56B1 chr1 157441133 157442914 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 157441133 157442914 Gain or loss Cancer - 20668451 NOT_FOUND chr1 157441133 157442914 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 157441133 157442914 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 157441133 157442914 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 157441133 157442914 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 57441347 57442278 Gain and loss Pancreatic cancer SNP array 17952125 ZDHHC5 chr11 57441347 57442278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZDHHC5 chr11 574416 581607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC143666,PHRF1 chr11 57444501 57445500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZDHHC5 chr11 5744656 5765715 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OR56B1 chr11 57447371 58503106 LOH Normal High-resolution SNP genotyping 21211785 BTBD18,C11orf31,CNTF,CTNND1,GLYAT,LPXN,MED19,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,TMX2,TMX2-CTNND1,ZDHHC5,ZFP91,ZFP91-CNTF chr11 57449506 57449595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZDHHC5 chr1 157453172 157454154 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 157453172 157463389 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 5745410 5759390 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 OR56B1 chr1 157461611 157494658 Gain and loss Pancreatic cancer SNP array 17952125 FCRL5 chr11 5746165 5759476 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR56B1 chr11 5746165 5764940 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR56B1 chr11 5746165 5768924 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR56B1 chr11 5746433 5764940 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR56B1 chr11 5746673 5746762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 157474760 157475521 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5747527 5764890 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR56B1 chr1 157480191 157481873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57489108 58830359 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BTBD18,C11orf31,CNTF,CTNND1,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,TMX2,TMX2-CTNND1,ZFP91,ZFP91-CNTF chr11 57501324 57546516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BTBD18,C11orf31,CTNND1,TMX2,TMX2-CTNND1 chr11 57501633 57501693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMX2,TMX2-CTNND1 chr11 57508225 57529794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BTBD18,C11orf31,CTNND1,TMX2,TMX2-CTNND1 chr1 157512932 157513906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCRL5 chr1 157515962 157772421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCRL1,FCRL2,FCRL3,FCRL4,FCRL5 chr1 157515962 157772421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCRL1,FCRL2,FCRL3,FCRL4,FCRL5 chr1 157522131 157537677 Gain and loss Pancreatic cancer SNP array 17952125 FCRL5 chr1 157526128 157544638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCRL4 chr1 157526128 157544638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCRL4 chr1 157526129 157544638 Copy number Lung cancer - 20668451 FCRL4 chr1 157526129 157544638 Gain or loss Breast cancer - 20668451 FCRL4 chr1 157526129 157544638 Gain or loss Cancer - 20668451 FCRL4 chr1 157526129 157544638 Gain or loss Lung cancer - 20668451 FCRL4 chr1 157526129 157544638 Gain or loss Ovarian cancer - 20668451 FCRL4 chr1 157526129 157544638 Gain or loss Pancreas cancer - 20668451 FCRL4 chr1 157526129 157544638 Gain or loss Prostate cancer - 20668451 FCRL4 chr1 157527883 157530215 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 57530698 57531658 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTNND1,TMX2-CTNND1 chr1 157541833 157541933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57547929 57705612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNND1,TMX2-CTNND1 chr11 57547929 57705612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNND1,TMX2-CTNND1 chr1 157550084 157551073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCRL4 chr1 157550084 157551073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCRL4 chr1 15755055 15756070 Gain and loss Pancreatic cancer SNP array 17952125 EFHD2 chr11 57550754 57550857 Gain and loss Pancreatic cancer SNP array 17952125 CTNND1,TMX2-CTNND1 chr11 57550754 57550860 Gain and loss Pancreatic cancer SNP array 17952125 CTNND1,TMX2-CTNND1 chr11 57550754 57550860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNND1,TMX2-CTNND1 chr11 5755466 5756440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57555000 57555954 Deletion Angio-oedema Quantitative real-time PCR 21790735 CTNND1,TMX2-CTNND1 chr11 57555001 57555954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNND1,TMX2-CTNND1 chr11 57555001 57555954 Gain and loss Pancreatic cancer SNP array 17952125 CTNND1,TMX2-CTNND1 chr11 57555001 57555954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNND1,TMX2-CTNND1 chr1 15756135 15806568 Gain and loss Pancreatic cancer SNP array 17952125 CELA2A,CELA2B,CTRC,EFHD2 chr11 57561438 57561538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNND1,TMX2-CTNND1 chr1 157579021 157611112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157587507 157677224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCRL3 chr1 157587507 157677224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCRL3 chr11 57589775 57589910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 157602698 158362249 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CD1A,CD1B,CD1C,CD1D,CD1E,CD5L,FCRL1,FCRL2,FCRL3,KIRREL,LOC646268 chr11 57608407 57612191 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 157613047 157645765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157620410 157620510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 157631037 157631183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57633008 57633709 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57633008 57633709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5764123 5772395 Loss Normal Quantitative PCR 18989455 NOT_FOUND chr1 157641837 157642823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57642547 57643492 Deletion Angio-oedema Quantitative real-time PCR 21790735 NOT_FOUND chr11 57642548 57643492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57642548 57643492 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57642548 57643492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5765660 5766622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5765660 5766622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5765660 5766622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5765715 5766037 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 157659405 157668122 Gain and loss Pancreatic cancer SNP array 17952125 FCRL3 chr11 5765963 5766765 Gain Normal 244K array 17666407 NOT_FOUND chr11 5766037 5768936 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 57668528 57669268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57668528 57669268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57670421 57670515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57673762 58418979 LOH Normal High-resolution SNP genotyping 21211785 CNTF,LPXN,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,ZFP91,ZFP91-CNTF chr1 157677843 157678942 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57699293 57699393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57703493 57704425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57714539 57715483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57714539 57715483 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57714539 57715483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15771739 15784192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELA2A,CTRC chr1 15771739 15784192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELA2A,CTRC chr11 57719405 57719731 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 57727251 57728229 Deletion Angio-oedema Quantitative real-time PCR 21790735 NOT_FOUND chr11 57727252 57728229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57727252 57728229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57727282 57728190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5772750 5785476 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR52N4 chr1 157727889 157737662 Gain and loss Pancreatic cancer SNP array 17952125 FCRL2 chr11 57734308 60273580 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTF,DTX4,FAM111A,FAM111B,GIF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,MIR3162,MPEG1,MRPL16,MS4A1,MS4A12,MS4A14,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR6Q1,OR9I1,OR9Q1,OR9Q2,OSBP,PATL1,PLAC1L,STX3,TCN1,ZFP91,ZFP91-CNTF chr11 57738793 57739770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57738793 57739770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57738844 57739764 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57751964 57752923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57751964 57752923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57751964 57752923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57758417 57813314 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 OR6Q1,OR9Q1 chr11 57759954 57760067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 157779057 157821793 Gain and loss Pancreatic cancer SNP array 17952125 CD5L,FCRL1 chr11 5778170 5779103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57790989 57791906 Gain and loss Pancreatic cancer SNP array 17952125 OR9Q1 chr11 57790989 57791933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr11 57790989 57791933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr1 157793782 157794614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15780684 15845495 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CASP9,CELA2A,CELA2B chr11 57808145 57812436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr11 57808145 57812436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr11 57815883 57816784 Gain and loss Pancreatic cancer SNP array 17952125 OR9Q1 chr1 157821248 157866052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 157822115 157828840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157822335 181823355 Gain Malignant melanoma BAC array CGH 17260012 ABL2,ACBD6,ADAMTS4,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,APCS,APOA2,ARHGAP30,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,AXDND1,B4GALT3,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf192,C1orf204,C1orf220,C1orf226,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD84,CENPL,CEP350,COPA,CREG1,CRP,DARC,DARS2,DCAF6,DCAF8,DDR2,DEDD,DNM3,DNM3OS,DPT,DUSP12,DUSP23,DUSP27,F11R,F5,FAM163A,FAM20B,FAM5B,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GAS5,GAS5-AS1,GM140,GORAB,GPA33,GPR161,GPR52,HSD17B7,HSPA6,HSPA7,IER5,IFI16,IGSF8,IGSF9,ILDR2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIAA0040,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,LHX4,LINC00626,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284688,LOC400794,LOC440700,LOC646268,LOC730102,LOC730159,LRRC52,LY9,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4424,MIR4654,MIR488,MIR5187,MIR556,MIR557,MIR921,MNDA,MPC2,MPZ,MPZL1,MR1,MRPS14,MYOC,NCSTN,NDUFS2,NHLH1,NIT1,NME7,NOS1AP,NPHS2,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PBX1,PCP4L1,PEA15,PEX19,PFDN2,PIGC,PIGM,POGK,POU2F1,PPOX,PRDX6,PRRC2C,PRRX1,PVRL4,PYHIN1,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RGS4,RGS5,RPL31P11,RXRG,SCARNA3,SCYL3,SDHC,SEC16B,SELE,SELL,SELP,SERPINC1,SFT2D2,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,SPTA1,STX6,SUCO,SUMO1P3,TADA1,TAGLN2,TBX19,TDRD5,TEX35,TIPRL,TMCO1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TSTD1,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2,XPR1,ZBTB37 chr1 157824240 157825284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157824240 157825284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157830578 157852808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157830906 157833153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 157834712 157835542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57841709 57890806 Gain and loss Pancreatic cancer SNP array 17952125 OR9I1,OR9Q1 chr1 157854569 157872415 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5785566 5785650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 57864823 57864914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR9Q1 chr11 57878101 57878185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR9Q1 chr11 57879710 57879798 Gain and loss Pancreatic cancer SNP array 17952125 OR9Q1 chr11 57879710 57879798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr1 157881257 157883207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57882174 57883118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr11 57882174 57883118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr1 157883420 157900911 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157900964 157903930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157903844 157915454 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157913501 157918300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 157915204 157916305 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 157915204 157916305 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 157915332 157916282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 157915386 157916253 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 57923558 57924725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OR9Q1 chr11 57923640 57924844 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OR9Q1 chr11 57926514 57927458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr11 57926514 57927458 Gain and loss Pancreatic cancer SNP array 17952125 OR9Q1 chr11 57926514 57927458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr11 57927335 58796443 LOH Normal High-resolution SNP genotyping 21211785 CNTF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR9Q1,OR9Q2,ZFP91,ZFP91-CNTF chr11 57932004 58446793 LOH Normal High-resolution SNP genotyping 21211785 CNTF,LPXN,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR9Q1,OR9Q2,ZFP91,ZFP91-CNTF chr11 57932004 59503795 LOH Normal High-resolution SNP genotyping 21211785 CNTF,DTX4,FAM111A,FAM111B,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,MIR3162,MPEG1,OR10Q1,OR10V1,OR10W1,OR1S1,OR1S2,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR9Q1,OR9Q2,OSBP,PATL1,ZFP91,ZFP91-CNTF chr1 157936615 157941717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 157941397 157942021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157942347 157948577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57946381 57947310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr11 57946381 57947310 Gain and loss Pancreatic cancer SNP array 17952125 OR9Q1 chr11 57946381 57947310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR9Q1 chr1 157948704 157951003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157948704 157951003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 157949267 157954083 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57951190 58620981 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTF,GLYAT,GLYATL2,LPXN,OR10Q1,OR10W1,OR1S1,OR1S2,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR9Q2,ZFP91,ZFP91-CNTF chr1 157954174 157960387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 579564 646845 Loss Autism - 20841430 CDHR5,DEAF1,DRD4,IRF7,PHRF1,SCT chr11 57963256 57964200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57963256 57964200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 57963256 57964200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 57968971 58155437 Amplification Breast cancer FISH 17142309 OR10Q1,OR10W1,OR1S1,OR1S2,OR5B17 chr1 157972612 157981917 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL chr1 157974102 157974202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL chr1 157974911 157984593 Gain Normal 244K array 17666407 KIRREL chr11 57977184 57977510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 5798142 5799107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR52N5 chr11 5798142 5799107 Gain and loss Pancreatic cancer SNP array 17952125 OR52N5 chr11 5798142 5799107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR52N5 chr1 157982178 157997255 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL chr1 157995584 157996003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIRREL chr1 157998160 158002111 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL chr1 158001886 158001921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL chr11 58004294 58358885 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 LPXN,OR10W1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,ZFP91,ZFP91-CNTF chr1 158005156 158006491 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL chr1 158008926 158026160 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL chr11 58010270 58010599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 158012528 158021028 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL chr1 158017346 158018957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIRREL chr1 158017346 158018957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIRREL chr11 58031225 58032154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58031225 58032154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58031225 58032154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158033455 158033555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIRREL chr1 15803679 15804125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELA2B chr1 158036926 158052671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIRREL chr1 158036926 158052671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIRREL chr1 158041590 158068312 Gain and loss Pancreatic cancer SNP array 17952125 KIRREL chr11 58050925 58099910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58050925 58099910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58051381 58051803 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 158063103 158073903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIRREL chr1 158063103 158073903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIRREL chr1 158064127 185982557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABL2,ACBD6,ADAMTS4,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,APCS,APOA2,APOBEC4,ARHGAP30,ARPC5,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,AXDND1,B4GALT3,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CD1A,CD1B,CD1C,CD1D,CD1E,CD244,CD247,CD48,CD84,CENPL,CEP350,COPA,CREG1,CRP,DARC,DARS2,DCAF6,DCAF8,DDR2,DEDD,DHX9,DNM3,DNM3OS,DPT,DUSP12,DUSP23,DUSP27,EDEM3,F11R,F5,FAM129A,FAM163A,FAM20B,FAM5B,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GORAB,GPA33,GPR161,GPR52,HMCN1,HSD17B7,HSPA6,HSPA7,IER5,IFI16,IGSF8,IGSF9,ILDR2,ITLN1,ITLN2,IVNS1ABP,KCNJ10,KCNJ9,KIAA0040,KIAA1614,KIFAP3,KIRREL,KLHDC9,KLHL20,LAMC1,LAMC2,LHX4,LINC00272,LINC00626,LMX1A,LOC100131825,LOC100288079,LOC100505633,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC400794,LOC440700,LOC646268,LOC730102,LOC730159,LRRC52,LY9,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4424,MIR4654,MIR488,MIR5187,MIR556,MIR557,MIR921,MNDA,MPC2,MPZ,MPZL1,MR1,MRPS14,MYOC,NCF2,NCSTN,NDUFS2,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PBX1,PCP4L1,PEA15,PEX19,PFDN2,PIGC,PIGM,POGK,POU2F1,PPOX,PRDX6,PRRC2C,PRRX1,PVRL4,PYHIN1,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RNASEL,RNF2,RPL31P11,RXRG,SCARNA3,SCYL3,SDHC,SEC16B,SELE,SELL,SELP,SERPINC1,SFT2D2,SH2D1B,SHCBP1L,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC9C2,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,SPTA1,STX6,SUCO,SUMO1P3,SWT1,TADA1,TAGLN2,TBX19,TDRD5,TEDDM1,TEX35,TIPRL,TMCO1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TRMT1L,TSEN15,TSTD1,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2,XPR1,ZBTB37,ZNF648 chr1 158070888 158099071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158070888 158099071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15808115 15813190 Gain and loss Pancreatic cancer SNP array 17952125 CELA2B chr1 158086144 158086235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158087600 158092817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158088320 158088386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158090501 158100000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 158097244 158146056 Gain and loss Pancreatic cancer SNP array 17952125 LOC646268 chr1 158100001 158158500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD1D,LOC646268 chr11 58103163 58149782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR5B17 chr11 58103163 58149782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR5B17 chr11 58103221 58149778 Gain and loss Pancreatic cancer SNP array 17952125 OR5B17 chr1 158108776 158136579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC646268 chr11 58129180 58129280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 15813725 15813949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELA2B chr1 15814361 15818855 Gain and loss Pancreatic cancer SNP array 17952125 CASP9,CELA2B chr1 158147828 158150731 Gain and loss Pancreatic cancer SNP array 17952125 CD1D chr1 158154521 158161908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD1D chr1 158154521 158161908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD1D chr11 58158073 58158145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158158501 158175000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 158163453 158182010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158163453 158182010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158163454 158182010 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 15816625 15859335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASP9,CELA2B,DNAJC16 chr1 15816625 15859335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP9,CELA2B,DNAJC16 chr11 58171839 58172059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158172661 158172761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 58173806 58173906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158175001 158209000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 158184152 158184258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58184170 58184251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5818762 5819758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5818762 5819758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158187911 158190668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158187911 158190668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158188966 158189950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158203734 158203806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158204508 158237155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD1A chr11 58207620 58234866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR5B12 chr1 158209001 158210500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 158210955 158225771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD1A chr11 58214227 58796443 LOH Normal High-resolution SNP genotyping 21211785 CNTF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,OR5B21,ZFP91,ZFP91-CNTF chr11 58214597 58218494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 58215518 58215917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58215518 58215917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158217028 158226156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD1A chr11 58217680 58796443 LOH Normal High-resolution SNP genotyping 21211785 CNTF,GLYAT,GLYATL1,GLYATL2,LOC283194,LPXN,OR5B21,ZFP91,ZFP91-CNTF chr1 158219386 158356094 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD1A,CD1B,CD1C,CD1E chr1 158219386 158356094 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD1A,CD1B,CD1C,CD1E chr1 158221247 158224986 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD1A chr1 158223760 158255103 Gain and loss Pancreatic cancer SNP array 17952125 CD1A chr1 158226187 158226237 Gain and loss Pancreatic cancer SNP array 17952125 CD1A chr1 158226187 158356094 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD1A,CD1B,CD1C,CD1E chr1 158226187 158356094 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD1A,CD1B,CD1C,CD1E chr1 158226486 158279248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD1A,CD1C chr1 158228002 158240394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD1A chr11 5822800 5858528 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 OR52N2 chr11 58232807 58256023 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58232809 58256023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58232809 58256023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158236836 158250603 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 158240304 158242249 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 158241654 158289948 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD1C chr1 158242030 158285371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD1C chr11 58247221 58280094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR5B21 chr11 58250728 58250802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158256714 158257139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158256714 158257139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158258490 227249364 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABL2,ACBD3,ACBD6,ADAMTS4,ADCK3,ADCY10,ADIPOR1,ADORA1,AIDA,AIM2,ALDH9A1,ANGEL2,ANGPTL1,ANKRD36BP1,ANKRD45,APCS,APOA2,APOBEC4,ARHGAP30,ARL8A,ARPC5,ASCL5,ASPM,ASTN1,ATF3,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,AXDND1,B3GALT2,B4GALT3,BATF3,BLZF1,BPNT1,BROX,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf140,C1orf186,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CASQ1,CCDC19,CD1B,CD1C,CD1E,CD244,CD247,CD34,CD46,CD48,CD55,CD84,CDC42BPA,CDC73,CDK18,CENPF,CENPL,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNIH3,CNIH4,CNTN2,COPA,CR1,CR1L,CR2,CRB1,CREG1,CRP,CSRP1,CTSE,CYB5R1,DARC,DARS2,DCAF6,DCAF8,DDR2,DDX59,DEDD,DEGS1,DENND1B,DHX9,DIEXF,DISP1,DNAH14,DNM3,DNM3OS,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DYRK3,EDEM3,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ESRRG,ETNK2,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM71A,FAM72A,FAM78B,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,FLJ23867,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,FMOD,G0S2,GAS5,GAS5-AS1,GLRX2,GLT25D2,GLUL,GM140,GOLT1A,GORAB,GPA33,GPATCH2,GPR161,GPR25,GPR37L1,GPR52,H3F3A,H3F3AP4,HHAT,HHIPL2,HLX,HMCN1,HSD11B1,HSD17B7,HSPA6,HSPA7,IARS2,IER5,IFI16,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,ILDR2,INTS7,IPO9,IRF6,ITLN1,ITLN2,ITPKB,IVNS1ABP,KCNH1,KCNJ10,KCNJ9,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA1614,KIF14,KIF21B,KIFAP3,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,LAD1,LAMB3,LAMC1,LAMC2,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGR6,LHX4,LHX9,LIN9,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00626,LINC00628,LMOD1,LMX1A,LOC100131234,LOC100131825,LOC100288079,LOC100505633,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148696,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC728463,LOC730102,LOC730159,LOC730227,LPGAT1,LRRC52,LRRN2,LY9,LYPLAL1,MAEL,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,METTL11B,METTL13,METTL18,MFSD4,MGST3,MIA3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR320B2,MIR3658,MIR4260,MIR4424,MIR4654,MIR4735,MIR4742,MIR488,MIR5187,MIR5191,MIR548F1,MIR556,MIR557,MIR664,MIR921,MIXL1,MNDA,MPC2,MPZ,MPZL1,MR1,MRPS14,MYBPH,MYOC,MYOG,NAV1,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NR1I3,NR5A2,NSL1,NUAK2,NUCKS1,NUF2,NVL,OCLM,OLFML2B,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PARP1,PBX1,PCP4L1,PDC,PEA15,PEX19,PFDN2,PFKFB2,PHLDA3,PIGC,PIGM,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PLXNA2,PM20D1,POGK,POU2F1,PPFIA4,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRDX6,PRELP,PRG4,PROX1,PRRC2C,PRRX1,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYHIN1,QSOX1,RAB3GAP2,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RNASEL,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPL31P11,RPS10P7,RPS6KC1,RRP15,RXRG,SCARNA3,SCYL3,SDE2,SDHC,SEC16B,SELE,SELL,SELP,SERPINC1,SERTAD4,SERTAD4-AS1,SFT2D2,SH2D1B,SHCBP1L,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC26A9,SLC30A1,SLC30A10,SLC41A1,SLC45A3,SLC9C2,SMG7,SMG7-AS1,SMYD2,SNORA16B,SNORA36B,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SOAT1,SOX13,SPATA17,SPTA1,SRGAP2,SRP9,STX6,SUCO,SUMO1P3,SUSD4,SWT1,SYT14,SYT2,TADA1,TAF1A,TAGLN2,TATDN3,TBX19,TDRD5,TEDDM1,TEX35,TGFB2,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPR,TRAF3IP3,TRAF5,TRMT1L,TROVE2,TSEN15,TSTD1,UAP1,UBE2T,UCHL5,UCK2,UFC1,UHMK1,USF1,USH2A,USP21,VAMP4,VANGL2,VASH2,VSIG8,WDR26,XCL1,XCL2,XPR1,YOD1,ZBED6,ZBTB37,ZBTB41,ZC3H11A,ZNF281,ZNF648 chr1 158261367 158268405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD1C chr1 158261367 158268405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD1C chr1 158264085 158268407 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CD1C chr1 158274657 158306585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD1B chr1 158274657 158306585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD1B chr1 1582802 1614027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK11B,SLC35E2B chr11 5828407 5911385 Copy number Type 2 diabetes ILLumia HumanHap307 BeadChip 21526130 OR52E4,OR52E6,OR52E8,OR52N2 chr1 15828460 15857143 Gain and loss Pancreatic cancer SNP array 17952125 CASP9,DNAJC16 chr11 5828813 5838612 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 158288275 158302409 Gain and loss Pancreatic cancer SNP array 17952125 CD1B chr1 158291736 158811985 Loss or gain Normal 244K array 17666407 CD1B,CD1E,MNDA,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,SPTA1 chr1 158292000 167892000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ADAMTS4,ADCY10,AIM2,ALDH9A1,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD1B,CD1E,CD244,CD247,CD48,CD84,COPA,CREG1,CRP,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,DUSP27,F11R,FAM78B,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,FMO9P,GPA33,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ILDR2,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC400794,LOC440700,LRRC52,LY9,MAEL,MGST3,MIR3658,MIR4654,MIR5187,MIR556,MIR921,MNDA,MPC2,MPZ,MPZL1,NCSTN,NDUFS2,NHLH1,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PBX1,PCP4L1,PEA15,PEX19,PFDN2,PIGM,POGK,POU2F1,PPOX,PVRL4,PYHIN1,RCSD1,RGS4,RGS5,RPL31P11,RXRG,SDHC,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TADA1,TAGLN2,TMCO1,TOMM40L,TSTD1,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr11 5830018 5844580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR52N2 chr1 158300658 158332889 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 CD1B,CD1E chr11 5830561 5840069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 158305990 158306061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158307091 158309736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158317017 159953843 Amplification Cancer Affymetrix 250K Sty array 20164920 AIM2,APCS,C1orf204,CADM3,CCDC19,CD1E,CRP,DARC,DUSP23,FCER1A,FCRL6,IFI16,IGSF9,LOC100131825,LOC100505633,MNDA,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PYHIN1,SLAMF8,SLAMF9,SPTA1,TAGLN2,VSIG8 chr1 158317984 158325836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD1E chr1 158317984 158325836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD1E chr11 58323281 76689952 Loss Wilms tumour 250K Genotyping Arrays 21544195 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf24,C11orf30,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CLCF1,CLPB,CNIH2,CNTF,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283194,LOC283214,LPXN,LRFN4,LRP5,LRRC10B,LRRC32,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,METTL12,MIR1237,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR611,MIR612,MOGAT2,MPEG1,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,OR10V1,OR10V2P,OR2AT4,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,ORAOV1,OSBP,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PATL1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLCO2B1,SNHG1,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TIGD3,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,UBXN1,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,ZBTB3,ZDHHC24,ZFP91,ZFP91-CNTF,ZFPL1,ZNHIT2,ZP1 chr11 5832443 5839881 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 158324608 158332873 Gain and loss Pancreatic cancer SNP array 17952125 CD1E chr1 158327754 158335103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158327754 158335103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158336749 159355008 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-259K arrays 21546498 AIM2,CADM3,DARC,FCER1A,IFI16,LOC100131825,MNDA,OR10J3,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PYHIN1,SPTA1 chr1 158337641 158337722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5834555 5835508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5834555 5835508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5834573 5835463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58348801 58354600 Deletion Glioma mate-paired sequence 20126413 ZFP91,ZFP91-CNTF chr1 158349930 158379996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10T2 chr1 158349930 158379996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10T2 chr11 58350765 58352595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFP91,ZFP91-CNTF chr11 58351105 58352597 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZFP91,ZFP91-CNTF chr11 58358118 58368833 Gain and loss Pancreatic cancer SNP array 17952125 ZFP91,ZFP91-CNTF chr11 58358118 58368833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFP91,ZFP91-CNTF chr1 158364666 158379618 Gain and loss Pancreatic cancer SNP array 17952125 OR10T2 chr1 158365064 158402939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OR10K2,OR10T2 chr11 58371247 58393087 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CNTF,ZFP91,ZFP91-CNTF chr11 5838612 5839893 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 58386339 58392074 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CNTF,ZFP91,ZFP91-CNTF chr11 58387001 58388500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZFP91,ZFP91-CNTF chr1 158387976 158423390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10K2 chr1 158387976 158423390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10K2 chr11 58388349 58393129 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTF,ZFP91,ZFP91-CNTF chr1 158391645 159433573 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-293K arrays 21546498 AIM2,CADM3,DARC,FCER1A,IFI16,LOC100131825,MNDA,OR10J1,OR10J3,OR10K1,OR10R2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PYHIN1,SPTA1 chr1 158391645 189498990 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-277K arrays 21546498 ABL2,ACBD6,ADAMTS4,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,APCS,APOA2,APOBEC4,ARHGAP30,ARPC5,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,AXDND1,B4GALT3,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CD244,CD247,CD48,CD84,CENPL,CEP350,COPA,CREG1,CRP,DARC,DARS2,DCAF6,DCAF8,DDR2,DEDD,DHX9,DNM3,DNM3OS,DPT,DUSP12,DUSP23,DUSP27,EDEM3,F11R,F5,FAM129A,FAM163A,FAM20B,FAM5B,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GORAB,GPA33,GPR161,GPR52,HMCN1,HSD17B7,HSPA6,HSPA7,IER5,IFI16,IGSF8,IGSF9,ILDR2,ITLN1,ITLN2,IVNS1ABP,KCNJ10,KCNJ9,KIAA0040,KIAA1614,KIFAP3,KLHDC9,KLHL20,LAMC1,LAMC2,LHX4,LINC00272,LINC00626,LMX1A,LOC100131825,LOC100288079,LOC100505633,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC400794,LOC440700,LOC730102,LOC730159,LRRC52,LY9,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4424,MIR4654,MIR488,MIR5187,MIR548F1,MIR556,MIR557,MIR921,MNDA,MPC2,MPZ,MPZL1,MR1,MRPS14,MYOC,NCF2,NCSTN,NDUFS2,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NR1I3,NUF2,OCLM,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10R2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PBX1,PCP4L1,PDC,PEA15,PEX19,PFDN2,PIGC,PIGM,PLA2G4A,POGK,POU2F1,PPOX,PRDX6,PRG4,PRRC2C,PRRX1,PTGS2,PVRL4,PYHIN1,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RNASEL,RNF2,RNU6-72,RPL31P11,RXRG,SCARNA3,SCYL3,SDHC,SEC16B,SELE,SELL,SELP,SERPINC1,SFT2D2,SH2D1B,SHCBP1L,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC9C2,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,SPTA1,STX6,SUCO,SUMO1P3,SWT1,TADA1,TAGLN2,TBX19,TDRD5,TEDDM1,TEX35,TIPRL,TMCO1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPR,TRMT1L,TSEN15,TSTD1,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2,XPR1,ZBTB37,ZNF648 chr11 5839893 5839894 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 5839894 5842284 Gain Normal Birdsuite, version 1.5.2 22087296 OR52N2 chr11 58399147 58399247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158400954 158401053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158400954 158401054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158408420 158415800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158408551 189951958 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 ABL2,ACBD6,ADAMTS4,ADCY10,AIM2,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,APCS,APOA2,APOBEC4,ARHGAP30,ARPC5,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,AXDND1,B4GALT3,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,CACNA1E,CACYBP,CADM3,CASQ1,CCDC19,CD244,CD247,CD48,CD84,CENPL,CEP350,COPA,CREG1,CRP,DARC,DARS2,DCAF6,DCAF8,DDR2,DEDD,DHX9,DNM3,DNM3OS,DPT,DUSP12,DUSP23,DUSP27,EDEM3,F11R,F5,FAM129A,FAM163A,FAM20B,FAM5B,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GORAB,GPA33,GPR161,GPR52,HMCN1,HSD17B7,HSPA6,HSPA7,IER5,IFI16,IGSF8,IGSF9,ILDR2,ITLN1,ITLN2,IVNS1ABP,KCNJ10,KCNJ9,KIAA0040,KIAA1614,KIFAP3,KLHDC9,KLHL20,LAMC1,LAMC2,LHX4,LINC00272,LINC00626,LMX1A,LOC100131825,LOC100288079,LOC100505633,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC400794,LOC440700,LOC730102,LOC730159,LRRC52,LY9,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4424,MIR4654,MIR488,MIR5187,MIR548F1,MIR556,MIR557,MIR921,MNDA,MPC2,MPZ,MPZL1,MR1,MRPS14,MYOC,NCF2,NCSTN,NDUFS2,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NR1I3,NUF2,OCLM,OLFML2B,OR10J1,OR10J3,OR10J5,OR10K1,OR10R2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PAPPA2,PBX1,PCP4L1,PDC,PEA15,PEX19,PFDN2,PIGC,PIGM,PLA2G4A,POGK,POU2F1,PPOX,PRDX6,PRG4,PRRC2C,PRRX1,PTGS2,PVRL4,PYHIN1,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RNASEL,RNF2,RNU6-72,RPL31P11,RXRG,SCARNA3,SCYL3,SDHC,SEC16B,SELE,SELL,SELP,SERPINC1,SFT2D2,SH2D1B,SHCBP1L,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC9C2,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,SPTA1,STX6,SUCO,SUMO1P3,SWT1,TADA1,TAGLN2,TBX19,TDRD5,TEDDM1,TEX35,TIPRL,TMCO1,TNFSF18,TNFSF4,TNN,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPR,TRMT1L,TSEN15,TSTD1,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2,XPR1,ZBTB37,ZNF648 chr1 158411931 158412031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158417204 158417304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158418318 158419818 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 158419998 161795584 Amplification Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ADAMTS4,AIM2,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf192,C1orf204,CADM3,CASQ1,CCDC19,CD244,CD48,CD84,COPA,CRP,DARC,DCAF8,DEDD,DUSP12,DUSP23,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LOC100131825,LOC100505633,LY9,MIR5187,MNDA,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NR1I3,OR10J1,OR10J3,OR10J5,OR10K1,OR10R2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,PYHIN1,RPL31P11,SDHC,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,UFC1,USF1,USP21,VANGL2,VSIG8 chr1 158419998 161795584 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ADAMTS4,AIM2,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf192,C1orf204,CADM3,CASQ1,CCDC19,CD244,CD48,CD84,COPA,CRP,DARC,DCAF8,DEDD,DUSP12,DUSP23,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LOC100131825,LOC100505633,LY9,MIR5187,MNDA,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NR1I3,OR10J1,OR10J3,OR10J5,OR10K1,OR10R2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,PYHIN1,RPL31P11,SDHC,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,UFC1,USF1,USP21,VANGL2,VSIG8 chr11 5842284 5842285 Gain Normal Birdsuite, version 1.5.2 22087296 OR52N2 chr11 5842285 5842287 Gain Normal Birdsuite, version 1.5.2 22087296 OR52N2 chr11 5842287 5857901 Gain Normal Birdsuite, version 1.5.2 22087296 OR52N2 chr1 158424107 158429590 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58424929 58487725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GLYAT chr1 158426989 158438298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10K1 chr1 158426989 158438298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10K1 chr1 158437256 158437552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158441749 158451790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10R2 chr1 158441749 158451790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10R2 chr1 158441750 158451786 Gain or loss Breast cancer - 20668451 OR10R2 chr1 158441750 158451786 Gain or loss Cancer - 20668451 OR10R2 chr1 158441750 158451786 Gain or loss Lung cancer - 20668451 OR10R2 chr1 158441750 158451786 Gain or loss Ovarian cancer - 20668451 OR10R2 chr1 158441750 158451786 Gain or loss Pancreas cancer - 20668451 OR10R2 chr1 158441750 158451786 Gain or loss Prostate cancer - 20668451 OR10R2 chr1 158451218 158458607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58451750 58481092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLYAT chr11 58451750 58481092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLYAT chr1 158452129 158498915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58456668 58635415 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GLYAT,GLYATL2 chr11 58456668 58765249 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GLYAT,GLYATL1,GLYATL2,LOC283194 chr11 58467046 58481092 Gain and loss Pancreatic cancer SNP array 17952125 GLYAT chr1 158467746 158660530 Gain and loss Pancreatic cancer SNP array 17952125 OR10X1,OR10Z1,OR6P1,OR6Y1,SPTA1 chr1 158500962 158549771 Amplification or deletion Cancer Array CGH 17440070 OR10X1,OR6P1,OR6Y1 chr11 58501706 58972223 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DTX4,FAM111A,FAM111B,GLYATL1,GLYATL2,LOC283194 chr1 158502753 158503640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158502753 158503640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58510704 58510804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158513231 158521555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR6Y1 chr1 158513231 158521555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR6Y1 chr11 58519323 61099233 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CCDC86,CD5,CD6,DDB1,DTX4,FAM111A,FAM111B,GIF,GLYATL1,GLYATL2,LINC00301,LOC283194,MIR3162,MPEG1,MRPL16,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,OR10V1,OR10V2P,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,OSBP,PATL1,PGA3,PGA4,PGA5,PLAC1L,PRPF19,PTGDR2,SLC15A3,STX3,TCN1,TMEM109,TMEM132A,VPS37C,VWCE,ZP1 chr11 58523669 58523745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158525000 158579978 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 OR10X1,OR10Z1,OR6P1 chr1 158525001 158579978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10X1,OR10Z1,OR6P1 chr1 158525001 158579978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10X1,OR10Z1,OR6P1 chr1 158525687 158580079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR10X1,OR10Z1,OR6P1 chr11 58525961 58526059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158537103 158558929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR10X1 chr1 158553815 158554120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58556950 58560464 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 58560464 58563817 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 158562518 158562630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58563817 58566573 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 58565862 58566193 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 58566573 58567817 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 158566727 158566827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 58567817 58567819 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 58567819 58567820 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 58567820 58606433 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GLYATL2 chr11 58569589 58609793 Gain Normal 244K array 17666407 GLYATL2 chr11 58571691 58611610 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GLYATL2 chr11 5857901 5879283 Gain Normal Birdsuite, version 1.5.2 22087296 OR52E6,OR52E8 chr1 158579678 158595366 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPTA1 chr1 158579686 158595366 Gain or loss Breast cancer - 20668451 SPTA1 chr1 158579686 158595366 Gain or loss Cancer - 20668451 SPTA1 chr1 158579686 158595366 Gain or loss Lung cancer - 20668451 SPTA1 chr1 158579686 158595366 Gain or loss Ovarian cancer - 20668451 SPTA1 chr1 158579686 158595366 Gain or loss Pancreas cancer - 20668451 SPTA1 chr1 158579686 158595366 Gain or loss Prostate cancer - 20668451 SPTA1 chr1 158579687 158595366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPTA1 chr1 158579687 158595366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTA1 chr1 158583744 159258445 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AIM2,CADM3,DARC,IFI16,LOC100131825,MNDA,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,PYHIN1,SPTA1 chr1 158583744 161772701 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS4,AIM2,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf192,C1orf204,CADM3,CASQ1,CCDC19,CD244,CD48,CD84,COPA,CRP,DARC,DCAF8,DEDD,DUSP12,DUSP23,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LOC100131825,LOC100505633,LY9,MIR5187,MNDA,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NR1I3,OR10J1,OR10J3,OR10J5,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,PYHIN1,RPL31P11,SDHC,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SPTA1,SUMO1P3,TAGLN2,TOMM40L,TSTD1,UFC1,USF1,USP21,VANGL2,VSIG8 chr11 5858528 5891679 Copy number Normal - 20703242 OR52E6,OR52E8 chr1 15858951 15860804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC16 chr1 15858951 15860804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC16 chr11 58592885 59473714 LOH Normal High-resolution SNP genotyping 21211785 DTX4,FAM111A,FAM111B,GLYATL1,GLYATL2,LOC283194,MIR3162,MPEG1,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,OSBP,PATL1 chr1 158603053 158603153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTA1 chr1 158603498 158609222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPTA1 chr1 158603498 158609222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTA1 chr11 58606433 58610341 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GLYATL2 chr11 58610341 58611622 Gain Normal Birdsuite, version 1.5.2 22087296 GLYATL2 chr11 58611387 58643800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLYATL2 chr11 58611622 58616350 Gain Normal Birdsuite, version 1.5.2 22087296 GLYATL2 chr11 58616350 58618670 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 5862099 5863037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR52E6 chr11 5862099 5863037 Gain and loss Pancreatic cancer SNP array 17952125 OR52E6 chr11 5862099 5863037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR52E6 chr1 158623408 158623508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTA1 chr1 158629182 158629323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTA1 chr11 58631286 58651443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58631286 58651443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58633675 58650351 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158636988 158665088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPTA1 chr1 158636988 158665088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPTA1 chr1 158636988 158665088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTA1 chr11 58637488 59541702 LOH Normal High-resolution SNP genotyping 21211785 DTX4,FAM111A,FAM111B,GLYATL1,LOC283194,MIR3162,MPEG1,OR10V1,OR10V2P,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,OSBP,PATL1,STX3 chr11 58668828 58679083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58668828 58679083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58668828 58679085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 158684641 158725302 Gain and loss Pancreatic cancer SNP array 17952125 OR6K3,OR6K6 chr1 158695449 158728811 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR6K6 chr11 58695478 58732636 Copy number Lung cancer - 20668451 GLYATL1,LOC283194 chr11 58695478 58732636 Gain or loss Breast cancer - 20668451 GLYATL1,LOC283194 chr11 58695478 58732636 Gain or loss Cancer - 20668451 GLYATL1,LOC283194 chr11 58695478 58732636 Gain or loss Lung cancer - 20668451 GLYATL1,LOC283194 chr11 58695478 58732636 Gain or loss Ovarian cancer - 20668451 GLYATL1,LOC283194 chr11 58695478 58732636 Gain or loss Pancreas cancer - 20668451 GLYATL1,LOC283194 chr11 58695478 58732636 Gain or loss Prostate cancer - 20668451 GLYATL1,LOC283194 chr11 58696388 58732636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLYATL1,LOC283194 chr11 58696388 58732636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLYATL1,LOC283194 chr11 58696541 58732636 Gain and loss Pancreatic cancer SNP array 17952125 GLYATL1,LOC283194 chr1 158709954 158710036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158716199 158716288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158719497 158760317 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR6K6,OR6N1,OR6N2 chr1 158721446 158759676 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR6K6,OR6N1,OR6N2 chr1 158721446 158759676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR6K6,OR6N1,OR6N2 chr1 158721446 158759676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR6K6,OR6N1,OR6N2 chr11 58734764 58736914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283194 chr11 58734764 58736914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283194 chr11 58734764 58736917 Gain and loss Pancreatic cancer SNP array 17952125 LOC283194 chr11 58738456 58738748 Gain and loss Pancreatic cancer SNP array 17952125 LOC283194 chr11 58738456 58738748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283194 chr1 158739790 158739870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1587457 15806585 Copy number Autism exome sequencing 22495311 AADACL3,AADACL4,ACOT7,ACTRT2,AGTRAP,AJAP1,ANGPTL7,APITD1,APITD1-CORT,ARHGEF16,C1orf126,C1orf127,C1orf158,C1orf174,C1orf200,C1orf86,CA6,CALML6,CAMTA1,CASZ1,CCDC27,CDK11A,CDK11B,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLSTN1,CORT,CTNNBIP1,CTRC,DFFA,DFFB,DHRS3,DNAJC11,DRAXIN,EFHD2,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM213B,FBXO2,FBXO44,FBXO6,FHAD1,FLJ42875,GABRD,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES5,HNRNPCL1,ICMT,KAZN,KCNAB2,KIAA1751,KIAA2013,KIF1B,KLHL21,LOC100129534,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC440563,LOC649330,LOC728716,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIIP,MIR34A,MIR4251,MIR4252,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MMP23A,MORN1,MTHFR,MTOR,MTOR-AS1,NADK,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,PANK4,PARK7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,RBP7,RER1,RERE,RNF207,RPL22,SKI,SLC25A33,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TAS1R1,THAP3,TMEM201,TMEM51,TMEM52,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D,WRAP73,ZBTB48 chr1 158767841 158767941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 158771239 159069886 Gain and loss Pancreatic cancer SNP array 17952125 AIM2,IFI16,MNDA,PYHIN1 chr11 58775842 58776170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC283194 chr11 5877705 5920377 Loss or gain Normal 244K array 17666407 OR52E4,OR52E8 chr1 158782419 158815918 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MNDA chr1 158782419 158815918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MNDA chr1 158782419 158815918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MNDA chr11 58784501 58793500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283194 chr11 58784895 58816692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC283194 chr11 5878583 5879896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR52E8 chr11 5878583 5879896 Gain and loss Pancreatic cancer SNP array 17952125 OR52E8 chr11 5878583 5879896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR52E8 chr1 15879175 15879450 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC16 chr11 5879283 5890539 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 58792925 58808082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283194 chr1 158800000 163800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS4,AIM2,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD244,CD48,CD84,COPA,CRP,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LOC100131825,LOC100505633,LY9,MIR4654,MIR5187,MIR556,MNDA,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,SDHC,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SUMO1P3,TAGLN2,TOMM40L,TSTD1,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 158800000 163800000 Copy number Normal - 20680643 ADAMTS4,AIM2,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD244,CD48,CD84,COPA,CRP,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LOC100131825,LOC100505633,LY9,MIR4654,MIR5187,MIR556,MNDA,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,SDHC,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SUMO1P3,TAGLN2,TOMM40L,TSTD1,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 158800000 163800000 Gain Intracranial ependymoma matrix-based CGH 16609018 ADAMTS4,AIM2,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD244,CD48,CD84,COPA,CRP,DARC,DCAF8,DDR2,DEDD,DUSP12,DUSP23,F11R,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LOC100131825,LOC100505633,LY9,MIR4654,MIR5187,MIR556,MNDA,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,PYHIN1,RGS4,RGS5,RPL31P11,SDHC,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SUMO1P3,TAGLN2,TOMM40L,TSTD1,UAP1,UFC1,UHMK1,USF1,USP21,VANGL2,VSIG8 chr1 158800000 174300000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 ADAMTS4,ADCY10,AIM2,ALDH9A1,ANKRD36BP1,ANKRD45,APCS,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,ATP1B1,B4GALT3,BLZF1,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf192,C1orf204,C1orf226,CADM3,CASQ1,CCDC19,CD244,CD247,CD48,CD84,CENPL,COPA,CREG1,CRP,DARC,DARS2,DCAF6,DCAF8,DDR2,DEDD,DNM3,DNM3OS,DPT,DUSP12,DUSP23,DUSP27,F11R,F5,FAM78B,FASLG,FCER1A,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL6,FCRLA,FCRLB,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GAS5,GAS5-AS1,GORAB,GPA33,GPR161,HSD17B7,HSPA6,HSPA7,IFI16,IGSF8,IGSF9,ILDR2,ITLN1,ITLN2,KCNJ10,KCNJ9,KIFAP3,KLHDC9,KLHL20,LINC00626,LMX1A,LOC100131825,LOC100505633,LOC100505795,LOC100505918,LOC100506023,LOC284688,LOC400794,LOC440700,LOC730159,LRRC52,LY9,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR4654,MIR5187,MIR556,MIR557,MIR921,MNDA,MPC2,MPZ,MPZL1,MYOC,NCSTN,NDUFS2,NHLH1,NIT1,NME7,NOS1AP,NR1I3,NUF2,OLFML2B,OR10J1,OR10J3,OR10J5,PBX1,PCP4L1,PEA15,PEX19,PFDN2,PIGC,PIGM,POGK,POU2F1,PPOX,PRDX6,PRRC2C,PRRX1,PVRL4,PYHIN1,RABGAP1L,RC3H1,RCSD1,RGS4,RGS5,RPL31P11,RXRG,SCYL3,SDHC,SELE,SELL,SELP,SERPINC1,SFT2D2,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC19A2,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SUCO,SUMO1P3,TADA1,TAGLN2,TBX19,TIPRL,TMCO1,TNFSF18,TNFSF4,TOMM40L,TOP1P1,TSTD1,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2,ZBTB37 chr1 158807806 159235014 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AIM2,CADM3,DARC,IFI16,LOC100131825,MNDA,PYHIN1 chr11 58815102 58815382 Gain and loss Pancreatic cancer SNP array 17952125 LOC283194 chr11 58815102 58815382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283194 chr1 15881789 15924495 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGMAT,DNAJC16 chr1 158828567 158828825 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 58833712 58834625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 15883414 15933849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGMAT,DNAJC16 chr1 15883414 15933849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGMAT,DNAJC16 chr1 158846513 158883493 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 158846513 158883493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 158846513 158883493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5885023 5885149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5885148 5885302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 58888508 58889443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM111B chr11 58888508 58889443 Gain and loss Pancreatic cancer SNP array 17952125 FAM111B chr11 58888508 58889443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM111B chr11 58891667 58891767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM111B chr11 5890539 5892086 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 158906562 158907393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PYHIN1 chr1 158915162 158948217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PYHIN1 chr1 158915162 158948217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PYHIN1 chr11 58915528 58916358 Gain and loss Pancreatic cancer SNP array 17952125 FAM111A chr11 58915528 58916358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM111A chr11 58946028 58947002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTX4 chr11 58946028 58947002 Gain and loss Pancreatic cancer SNP array 17952125 DTX4 chr11 58946028 58947002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTX4 chr11 58967218 58968165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTX4 chr11 58967218 58968165 Gain and loss Pancreatic cancer SNP array 17952125 DTX4 chr11 58967218 58968165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTX4 chr1 158975701 158991224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFI16 chr1 158975701 158991224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFI16 chr11 58981010 58981954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58981010 58981954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 58981010 58981954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 58990724 58990809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 58995904 59501051 LOH Normal High-resolution SNP genotyping 21211785 MIR3162,OR10V1,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,OSBP,PATL1 chr1 15900000 22100000 Deletion Smith-Magenis syndrome References 18923513 ACTL8,AGMAT,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAMK2N1,CAPZB,CDA,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,DDI2,DDOST,ECE1,EIF4G3,EMC1,EPHA2,ESPNP,FAM131C,FAM43B,FBLIM1,FBXO42,FLJ37453,HP1BP3,HSPB7,HTR6,IFFO2,IGSF21,KIF17,KLHDC7A,LOC100506730,LOC100506801,LOC339505,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,NBL1,NBPF1,NBPF3,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PQLC2,RAP1GAP,RCC2,RNF186,RSC1A1,RSG1,SDHB,SH2D5,SLC25A34,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,TMEM82,UBR4,UBXN10,UQCRHL,USP48,VWA5B1,ZBTB17 chr1 15900030 15900473 Gain and loss Pancreatic cancer SNP array 17952125 AGMAT chr11 59001485 59002393 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59001584 59002330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59001584 59002330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59015806 59016555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59023005 59023110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59023005 59023110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59027625 59028560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59027625 59028560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59027625 59028560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159032552 159064669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AIM2 chr1 159032552 159064669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIM2 chr11 59038947 59039897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59038962 59039906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59038962 59039906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15906280 15919948 Gain and loss Pancreatic cancer SNP array 17952125 AGMAT chr1 159066623 159099316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159066623 159099316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5906718 5946096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 159075465 159078309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59082850 59082910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 159084425 159084911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1590917 1590971 Gain Autism 1M Ailent CGH whole-genome array 21865298 CDK11B chr1 159096714 159113554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59098447 59140193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR5AN1 chr11 59098447 59140193 Gain and loss Pancreatic cancer SNP array 17952125 OR5AN1 chr11 59098447 59140193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR5AN1 chr1 159100000 160500000 Gain Breast cancer oligonucleotide CGH arrays 19602461 APCS,ATP1A2,ATP1A4,C1orf204,CADM3,CASQ1,CCDC19,COPA,CRP,DARC,DCAF8,DUSP23,FCER1A,FCRL6,IGSF8,IGSF9,KCNJ10,KCNJ9,LOC100131825,LOC100505633,NCSTN,NHLH1,OR10J1,OR10J3,OR10J5,PEA15,PEX19,PIGM,SLAMF6,SLAMF8,SLAMF9,SUMO1P3,TAGLN2,VANGL2,VSIG8 chr11 59100000 79600000 Gain Acute lymphoblastic leukemia - 21339820 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ANAPC15,ANKRD13D,ANO1,AP5B1,AQP11,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf24,C11orf30,C11orf48,C11orf67,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CLCF1,CLNS1A,CLPB,CNIH2,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GIF,GNG3,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS4,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC10B,LRRC32,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,METTL12,MIR1237,MIR139,MIR1908,MIR192,MIR194-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR5579,MIR611,MIR612,MIR708,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,ODZ4,OMP,OR10V1,OR10V2P,OR2AT4,OR4D10,OR4D11,OR4D6,OR4D9,OR5A1,OR5A2,OR5AN1,ORAOV1,OSBP,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PATL1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLCO2B1,SNHG1,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,STX3,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,THRSP,TIGD3,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,UBXN1,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,ZBTB3,ZDHHC24,ZFPL1,ZNHIT2,ZP1 chr1 159112956 159121673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159112956 159121673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15912668 16385965 Copy number Normal Quantitative Real-Time PCR 17666543 C1orf64,CLCNKA,CLCNKB,DDI2,FAM131C,FBLIM1,FLJ37453,HSPB7,PLEKHM2,RSC1A1,SLC25A34,SPEN,TMEM82,UQCRHL,ZBTB17 chr1 159131394 159132493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159131394 159132493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59150996 59151067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59155366 59155691 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 59160770 59182996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59160770 59182996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59160770 59193028 Gain and loss Pancreatic cancer SNP array 17952125 OR5A2 chr1 159171951 159172539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CADM3,LOC100131825 chr1 159181440 159209863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159181440 159209863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159183335 159183435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59188296 59191142 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 OR5A2 chr1 15919665 16012256 Gain and loss Pancreatic cancer SNP array 17952125 DDI2,PLEKHM2,RSC1A1 chr1 159199291 159225502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 159201645 159201960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 59203118 59203208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59230101 59230432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59230122 59230432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59230194 59230432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 159232609 159275358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCER1A chr1 159232609 159275358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCER1A chr11 59236965 59237894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59236965 59237894 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59236965 59237894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15924001 15949000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDI2 chr11 5925153 5926100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5925153 5926100 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5925153 5926100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59252954 59253047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 159256501 159439000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FCER1A,OR10J1,OR10J3 chr11 59257933 59258007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 159262981 159301284 Gain and loss Pancreatic cancer SNP array 17952125 FCER1A,OR10J3 chr1 159271248 159271416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCER1A chr1 159274045 159275391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCER1A chr1 159275665 159282391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCER1A chr1 159275665 159282391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCER1A chr1 159278554 159278554 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr11 59279108 59326752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR4D9 chr11 59279108 59326752 Gain and loss Pancreatic cancer SNP array 17952125 OR4D9 chr11 59279108 59326752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR4D9 chr1 159283356 159306384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10J3 chr1 159283356 159306384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10J3 chr11 59305362 59305769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59305362 59305769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15930616 17135135 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARHGEF19,C1orf64,CLCNKA,CLCNKB,CROCCP2,CROCCP3,DDI2,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,PLEKHM2,RSC1A1,RSG1,SLC25A34,SPATA21,SPEN,SZRD1,TMEM82,UQCRHL,ZBTB17 chr1 159308119 159325966 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 159308120 159325966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159308120 159325966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159312274 159312374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59330190 59334921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59330190 59334921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59330190 59334921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159333913 159481893 Gain and loss Pancreatic cancer SNP array 17952125 OR10J1 chr1 159333913 159481893 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 OR10J1 chr1 159334778 159336758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159334778 159336758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159336969 159354490 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 159336971 159354490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159336971 159354490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159341225 159365094 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 59342569 59342639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBP chr1 159353297 159353397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59353324 59369550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3162,OSBP chr11 59353324 59369550 Gain and loss Pancreatic cancer SNP array 17952125 MIR3162,OSBP chr11 59353324 59369550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3162,OSBP chr1 15935396 15940471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15935396 15940471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159354514 159361857 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 159354515 159368826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159354515 159368826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159357391 159369102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159357391 159369102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15936285 15955563 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 DDI2 chr11 59376858 59390594 Gain and loss Pancreatic cancer SNP array 17952125 OSBP chr11 59376860 59390617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBP chr11 59377973 59378495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OSBP chr1 159381279 159399154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 159390157 159395270 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 159390173 159395269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159390173 159395269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159393135 159393234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 159395878 159402137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159395878 159402137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159402824 159407632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159402824 159407632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159407724 159413938 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 OR10J1 chr1 159407725 159413938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10J1 chr1 159407725 159413938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10J1 chr1 15941504 15947064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDI2 chr1 15941504 15947064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDI2 chr11 59420376 59465680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PATL1 chr11 59422234 59423186 Gain and loss Pancreatic cancer SNP array 17952125 PATL1 chr11 59422234 59423186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PATL1 chr1 159426163 159435469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159426163 159435469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159435729 159450806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159435729 159450806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59437372 59437423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59443865 59478518 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 5944983 5946096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1594502 1686141 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B chr1 159451693 159457113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159451693 159457113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159456558 160123820 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APCS,ATP1A2,ATP1A4,C1orf204,CCDC19,CRP,DUSP23,FCRL6,IGSF8,IGSF9,KCNJ10,KCNJ9,LOC100505633,OR10J5,PIGM,SLAMF8,SLAMF9,TAGLN2,VSIG8 chr1 159458707 159460042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159458707 159460042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159462457 159467032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159462457 159467032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59462504 59469383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59462504 59469383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159465270 159465370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 159466080 159474624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159466080 159474624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159471449 159475822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159479179 159479462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 159482000 159516434 Duplication Non-syndromic sensorineural hearing loss References 19212409 OR10J5 chr1 15949001 16132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDI2,FBLIM1,PLEKHM2,RSC1A1,SLC25A34,TMEM82 chr1 159492150 159514265 Gain and loss Pancreatic cancer SNP array 17952125 OR10J5 chr1 159495141 159521863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10J5 chr1 159495141 159521863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10J5 chr11 59505456 59818108 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GIF,MRPL16,OR10V2P,PLAC1L,STX3,TCN1 chr11 59505456 60379654 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GIF,MRPL16,MS4A1,MS4A12,MS4A13,MS4A14,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,OR10V2P,PLAC1L,STX3,TCN1 chr1 159519113 159554523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 159541148 159546386 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 NOT_FOUND chr1 159541151 159546377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159541151 159546377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159550789 159601159 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 APCS chr1 159550789 159601159 Genomic rearrangement Pheochromocytoma MLPA 19223516 APCS chr1 159550790 159601154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APCS chr1 159550790 159601154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APCS chr1 159556502 159561112 Gain and loss Pancreatic cancer SNP array 17952125 APCS chr1 15955741 15985676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDI2 chr1 15955741 15985676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDI2 chr1 1595624 1595926 Gain and loss Pancreatic cancer SNP array 17952125 CDK11B,SLC35E2B chr11 59564324 59572090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STX3 chr11 59564324 59572090 Gain and loss Pancreatic cancer SNP array 17952125 STX3 chr11 59564324 59572090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STX3 chr1 159568302 159568402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59570222 59599391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GIF,MRPL16,STX3 chr11 59580677 59595163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59580677 59595163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59580707 59595177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59582834 59582934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 159601145 159604288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159601145 159604288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59601443 59602462 Gain and loss Pancreatic cancer SNP array 17952125 GIF chr11 59602136 59602468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GIF chr11 59612713 59622587 Gain and loss Pancreatic cancer SNP array 17952125 GIF,TCN1 chr11 59612713 59622593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GIF,TCN1 chr11 59612713 59622593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GIF,TCN1 chr1 159615121 159615772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159619975 159649603 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 59624949 59625049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCN1 chr11 5963747 5964691 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5963747 5964736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5963747 5964736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159637703 159637809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159642476 159643501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159657285 159657357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159662731 159662767 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 59664707 59701910 Loss Normal 244K array 17666407 NOT_FOUND chr1 159668233 159701698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRP chr1 159675687 159913382 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C1orf204,CCDC19,CRP,DUSP23,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr11 59690083 59690183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59695657 59707250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59695657 59707250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59695657 59708467 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59700000 61400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CCDC86,CD5,CD6,CPSF7,CYBASC3,DAK,DDB1,LINC00301,LRRC10B,MIR4488,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,PGA3,PGA4,PGA5,PLAC1L,PPP1R32,PRPF19,PTGDR2,RPLP0P2,SDHAF2,SLC15A3,SYT7,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr11 59700000 61400000 Duplication Splenic marginal zone lymphoma BAC CGH array 21957467 CCDC86,CD5,CD6,CPSF7,CYBASC3,DAK,DDB1,LINC00301,LRRC10B,MIR4488,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,PGA3,PGA4,PGA5,PLAC1L,PPP1R32,PRPF19,PTGDR2,RPLP0P2,SDHAF2,SLC15A3,SYT7,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr11 59700000 61400000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 CCDC86,CD5,CD6,CPSF7,CYBASC3,DAK,DDB1,LINC00301,LRRC10B,MIR4488,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,PGA3,PGA4,PGA5,PLAC1L,PPP1R32,PRPF19,PTGDR2,RPLP0P2,SDHAF2,SLC15A3,SYT7,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr11 59700000 63100000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHNAK,ASRGL1,B3GAT3,BEST1,BSCL2,C11orf10,C11orf48,C11orf83,C11orf9,CCDC86,CD5,CD6,CHRM1,CPSF7,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,EEF1G,EML3,FADS1,FADS2,FADS3,FEN1,FTH1,GANAB,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,INCENP,INTS5,LINC00301,LRRC10B,LRRN4CL,METTL12,MIR1908,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR611,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,NXF1,PGA3,PGA4,PGA5,PLAC1L,POLR2G,PPP1R32,PRPF19,PTGDR2,RAB3IL1,ROM1,RPLP0P2,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SDHAF2,SLC15A3,SLC22A10,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,SYT7,TAF6L,TMEM109,TMEM132A,TMEM138,TMEM179B,TMEM216,TMEM223,TTC9C,TUT1,UBXN1,VPS37C,VWCE,WDR74,ZBTB3,ZP1 chr11 59700000 70700000 Gain Metanephric adenoma Oligo aCGH 20802469 ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANKRD13D,ANO1,AP5B1,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf24,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHKA,CHRM1,CLCF1,CNIH2,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM86C2P,FAM89B,FAU,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GNG3,GPHA2,GPR137,GPR152,GSTP1,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,INCENP,INTS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LINC00301,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LRP5,LRRC10B,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,METTL12,MIR1237,MIR1908,MIR192,MIR194-2,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR548AR,MIR548K,MIR611,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NDUFS8,NDUFV1,NEAT1,NPAS4,NRXN2,NUDT22,NUDT8,NXF1,ORAOV1,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PGA3,PGA4,PGA5,PITPNM1,PLA2G16,PLAC1L,PLCB3,POLA2,POLD4,POLR2G,PPFIA1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TPCN2,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBXN1,UNC93B1,VEGFB,VPS37C,VPS51,VWCE,WDR74,YIF1A,ZBTB3,ZDHHC24,ZFPL1,ZNHIT2,ZP1 chr11 59700000 74900000 Gain Metanephric adenoma Oligo aCGH 20802469 ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf24,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DHCR7,DKFZP434K028,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GNG3,GPHA2,GPR137,GPR152,GSTP1,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LRFN4,LRP5,LRRC10B,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,METTL12,MIR1237,MIR139,MIR1908,MIR192,MIR194-2,MIR3165,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR611,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,ROM1,RPLP0P2,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLCO2B1,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TPCN2,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBXN1,UCP2,UCP3,UNC93B1,VEGFB,VPS37C,VPS51,VWCE,WDR74,XRRA1,YIF1A,ZBTB3,ZDHHC24,ZFPL1,ZNHIT2,ZP1 chr11 59700000 76700000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf24,C11orf30,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GDPD5,GNG3,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LINC00301,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC10B,LRRC32,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,METTL12,MIR1237,MIR139,MIR1908,MIR192,MIR194-2,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR611,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLCO2B1,SNHG1,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,UBXN1,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,ZBTB3,ZDHHC24,ZFPL1,ZNHIT2,ZP1 chr1 15971567 16004948 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDI2,RSC1A1 chr11 5972143 5972579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 159722810 159884140 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 C1orf204,CCDC19,DUSP23,FCRL6,SLAMF8,VSIG8 chr11 59732627 59754122 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59737138 59754099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59737138 59754099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159741844 159755984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP23 chr1 159741844 159755984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP23 chr1 159746569 159913382 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C1orf204,CCDC19,DUSP23,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159748358 159910250 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C1orf204,CCDC19,DUSP23,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159748358 159910250 Copy number loss Normal High-resolution SNP genotyping 21211785 C1orf204,CCDC19,DUSP23,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159748358 159911245 Copy number loss Normal High-resolution SNP genotyping 21211785 C1orf204,CCDC19,DUSP23,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159748358 159913439 Copy number loss Normal High-resolution SNP genotyping 21211785 C1orf204,CCDC19,DUSP23,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159748409 159912837 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 C1orf204,CCDC19,DUSP23,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159750000 159870000 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 C1orf204,CCDC19,DUSP23,FCRL6,SLAMF8,VSIG8 chr1 159753915 159864147 Substitutions and indels small cell lung cancer array-CGH 20016488 C1orf204,CCDC19,FCRL6,SLAMF8,VSIG8 chr1 159758182 159899278 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C1orf204,CCDC19,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159760501 159762500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 159760660 159763305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159760660 159763305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159763524 159775415 Gain Normal Birdsuite, version 1.5.2 22087296 FCRL6 chr1 159763524 159883488 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C1orf204,CCDC19,FCRL6,SLAMF8,VSIG8 chr1 159770809 159778040 Gain and loss Pancreatic cancer SNP array 17952125 FCRL6 chr1 159773016 159774574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCRL6 chr1 159774630 159806636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf204,FCRL6,SLAMF8 chr1 159775403 159905125 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf204,CCDC19,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159775403 159923110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf204,CCDC19,FCRL6,IGSF9,SLAMF8,SLAMF9,TAGLN2,VSIG8 chr1 159775415 159778033 Gain Normal Birdsuite, version 1.5.2 22087296 FCRL6 chr1 159776981 159777081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FCRL6 chr1 159778033 159778034 Gain Normal Birdsuite, version 1.5.2 22087296 FCRL6 chr1 159778034 159780383 Gain or loss Normal Birdsuite, version 1.5.2 22087296 FCRL6 chr1 159778034 159906183 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C1orf204,CCDC19,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159778179 159787005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCRL6 chr1 159778179 159787005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCRL6 chr1 159780383 159784563 Gain or loss Normal Birdsuite, version 1.5.2 22087296 FCRL6 chr1 159780383 159905125 Deletion Normal Affymetrix 6.0 microarrays 20967226 C1orf204,CCDC19,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159780383 159905125 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C1orf204,CCDC19,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159780383 159905125 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf204,CCDC19,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159784563 159888793 Gain or loss Normal Birdsuite, version 1.5.2 22087296 C1orf204,CCDC19,FCRL6,SLAMF8,TAGLN2,VSIG8 chr1 159784563 159905125 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C1orf204,CCDC19,FCRL6,IGSF9,SLAMF8,TAGLN2,VSIG8 chr1 159789759 159905125 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C1orf204,CCDC19,IGSF9,SLAMF8,TAGLN2,VSIG8 chr11 59795885 59795979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59796701 59796781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 5979857 5980798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5979857 5980954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5979857 5980954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59804650 59833017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A3,PLAC1L chr11 59804650 59833017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A3,PLAC1L chr11 59804705 59833017 Gain and loss Pancreatic cancer SNP array 17952125 MS4A3,PLAC1L chr1 159817168 207743233 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABL2,ACBD6,ADAMTS4,ADCY10,ADIPOR1,ADORA1,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,APOA2,APOBEC4,ARHGAP30,ARL8A,ARPC5,ASCL5,ASPM,ASTN1,ATF6,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP6V1G3,AVPR1B,AXDND1,B3GALT2,B4GALT3,BLZF1,BTG2,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf116,C1orf129,C1orf186,C1orf192,C1orf204,C1orf21,C1orf220,C1orf226,C1orf27,C1orf53,C1orf98,C4BPA,C4BPB,CACNA1E,CACNA1S,CACYBP,CAMSAP2,CASQ1,CCDC19,CD244,CD247,CD48,CD55,CD84,CDC73,CDK18,CENPL,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,COPA,CR1,CR2,CRB1,CREG1,CSRP1,CTSE,CYB5R1,DARS2,DCAF6,DCAF8,DDR2,DDX59,DEDD,DENND1B,DHX9,DNM3,DNM3OS,DPT,DSTYK,DUSP12,DUSP27,DYRK3,EDEM3,EIF2D,ELF3,ELK4,ETNK2,F11R,F13B,F5,FAIM3,FAM129A,FAM163A,FAM20B,FAM58BP,FAM5B,FAM5C,FAM72A,FAM78B,FASLG,FCAMR,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,FMOD,GAS5,GAS5-AS1,GLRX2,GLT25D2,GLUL,GM140,GOLT1A,GORAB,GPA33,GPR161,GPR25,GPR37L1,GPR52,HMCN1,HSD17B7,HSPA6,HSPA7,IER5,IGFN1,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,ILDR2,IPO9,ITLN1,ITLN2,IVNS1ABP,KCNJ10,KCNJ9,KCNT2,KDM5B,KDM5B-AS1,KIAA0040,KIAA1614,KIF14,KIF21B,KIFAP3,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,LAD1,LAMC1,LAMC2,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX4,LHX9,LINC00260,LINC00272,LINC00303,LINC00626,LINC00628,LMOD1,LMX1A,LOC100131234,LOC100288079,LOC100505633,LOC100505795,LOC100505918,LOC100506023,LOC100527964,LOC148709,LOC284578,LOC284581,LOC284648,LOC284688,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC730102,LOC730159,LOC730227,LRRC52,LRRN2,LY9,MAEL,MAPKAPK2,MDM4,METTL11B,METTL13,METTL18,MFSD4,MGST3,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR181A1,MIR181B1,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4424,MIR4654,MIR4735,MIR488,MIR5187,MIR5191,MIR548F1,MIR556,MIR557,MIR921,MPC2,MPZ,MPZL1,MR1,MRPS14,MYBPH,MYOC,MYOG,NAV1,NCF2,NCSTN,NDUFS2,NEK7,NFASC,NHLH1,NIT1,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NR1I3,NR5A2,NUAK2,NUCKS1,NUF2,OCLM,OLFML2B,OPTC,PAPPA2,PBX1,PCP4L1,PDC,PEA15,PEX19,PFDN2,PFKFB2,PHLDA3,PIGC,PIGM,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PM20D1,POGK,POU2F1,PPFIA4,PPOX,PPP1R12B,PPP1R15B,PRDX6,PRELP,PRG4,PRRC2C,PRRX1,PTGS2,PTPN7,PTPRC,PTPRVP,PVRL4,QSOX1,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RC3H1,RCSD1,REN,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RNASEL,RNF2,RNPEP,RNU6-72,RNU6-79,RPL31P11,RPS10P7,RXRG,SCARNA3,SCYL3,SDHC,SEC16B,SELE,SELL,SELP,SERPINC1,SFT2D2,SH2D1B,SHCBP1L,SHISA4,SLAMF1,SLAMF6,SLAMF7,SLAMF9,SLC19A2,SLC26A9,SLC41A1,SLC45A3,SLC9C2,SMG7,SMG7-AS1,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPE,SOAT1,SOX13,SRGAP2,STX6,SUCO,SUMO1P3,SWT1,SYT2,TADA1,TAGLN2,TBX19,TDRD5,TEDDM1,TEX35,TIMM17A,TIPRL,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM81,TMEM9,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPR,TRMT1L,TROVE2,TSEN15,TSTD1,UAP1,UBE2T,UCHL5,UCK2,UFC1,UHMK1,USF1,USP21,VAMP4,VANGL2,VSIG8,XCL1,XCL2,XPR1,YOD1,ZBED6,ZBTB37,ZBTB41,ZC3H11A,ZNF281,ZNF648 chr1 15982698 15982796 Gain and loss Pancreatic cancer SNP array 17952125 DDI2 chr1 159842705 159843445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC19 chr1 159842705 159843445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC19 chr1 159843756 159904530 Gain and loss Pancreatic cancer SNP array 17952125 CCDC19,IGSF9,TAGLN2 chr1 159854406 159855999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC19 chr11 59858880 59865008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A2 chr11 59858880 59865008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A2 chr11 59858880 59865017 Gain and loss Pancreatic cancer SNP array 17952125 MS4A2 chr1 159859475 159905125 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCDC19,IGSF9,TAGLN2 chr1 159859610 159867782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC19 chr1 159859611 159867782 Copy number Autoimmune disease Reference 17953491 CCDC19 chr1 159859611 159867782 Copy number Immune disease - 21076436 CCDC19 chr1 159859611 159867782 Copy number Pulmonary fibrosis quantitative rtPCR 21109729 CCDC19 chr1 159859611 159867782 Copy number Systemic lupus erythematosus Reference 17953491 CCDC19 chr1 159859611 159867782 Copy number Wegener's granulomatosis Reference 17953491 CCDC19 chr1 159859611 159867782 Low copy number Systemic lupus erythematosus independent genome-wide ancestry informative markers(AIMs) 21296850 CCDC19 chr11 59868558 61021809 LOH Normal High-resolution SNP genotyping 21211785 CCDC86,CD5,CD6,LINC00301,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,PGA3,PGA4,PGA5,PRPF19,PTGDR2,SLC15A3,TMEM109,TMEM132A,VPS37C,ZP1 chr1 159879159 167481135 Substitutions and indels small cell lung cancer array-CGH 20016488 ADAMTS4,ALDH9A1,APOA2,ARHGAP30,ATF6,ATP1A2,ATP1A4,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf226,CASQ1,CD244,CD247,CD48,CD84,COPA,DCAF8,DDR2,DEDD,DUSP12,DUSP27,F11R,FAM78B,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,FMO9P,GPA33,HSD17B7,HSPA6,HSPA7,IGSF8,IGSF9,ILDR2,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LMX1A,LOC100505633,LOC100505795,LOC400794,LOC440700,LRRC52,LY9,MAEL,MGST3,MIR3658,MIR4654,MIR5187,MIR556,MIR921,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,PBX1,PCP4L1,PEA15,PEX19,PFDN2,PIGM,POGK,POU2F1,PPOX,PVRL4,RGS4,RGS5,RPL31P11,RXRG,SDHC,SH2D1B,SLAMF1,SLAMF6,SLAMF7,SLAMF9,SUMO1P3,TADA1,TAGLN2,TMCO1,TOMM40L,TSTD1,UAP1,UCK2,UFC1,UHMK1,USF1,USP21,VANGL2 chr1 159888793 159896566 Gain or loss Normal Birdsuite, version 1.5.2 22087296 TAGLN2 chr1 159896566 159905154 Gain or loss Normal Birdsuite, version 1.5.2 22087296 IGSF9 chr11 59899276 59899376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 159899575 159914575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGSF9 chr1 159899575 159914575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF9 chr11 59900000 61700000 Gain Gastric cancer Array CGH 16891809 C11orf10,C11orf9,CCDC86,CD5,CD6,CPSF7,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,FADS1,FADS2,FADS3,FEN1,LINC00301,LRRC10B,MIR1908,MIR4488,MIR611,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,PGA3,PGA4,PGA5,PPP1R32,PRPF19,PTGDR2,RAB3IL1,RPLP0P2,SDHAF2,SLC15A3,SYT7,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr11 59900000 61700000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 C11orf10,C11orf9,CCDC86,CD5,CD6,CPSF7,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,FADS1,FADS2,FADS3,FEN1,LINC00301,LRRC10B,MIR1908,MIR4488,MIR611,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,PGA3,PGA4,PGA5,PPP1R32,PRPF19,PTGDR2,RAB3IL1,RPLP0P2,SDHAF2,SLC15A3,SYT7,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr11 59900000 61700000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 C11orf10,C11orf9,CCDC86,CD5,CD6,CPSF7,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,FADS1,FADS2,FADS3,FEN1,LINC00301,LRRC10B,MIR1908,MIR4488,MIR611,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,PGA3,PGA4,PGA5,PPP1R32,PRPF19,PTGDR2,RAB3IL1,RPLP0P2,SDHAF2,SLC15A3,SYT7,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr11 59900000 68400000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf24,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC86,CCDC87,CCDC88B,CCS,CD248,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHKA,CHRM1,CLCF1,CNIH2,CORO1B,COX8A,CPSF7,CST6,CTSF,CTSW,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADS1,FADS2,FADS3,FAM86C2P,FAM89B,FAU,FEN1,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL3ST3,GANAB,GNG3,GPHA2,GPR137,GPR152,GSTP1,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LINC00301,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LRP5,LRRC10B,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,METTL12,MIR1237,MIR1908,MIR192,MIR194-2,MIR3654,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR548AR,MIR611,MIR612,MRPL11,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MUS81,NAA40,NAALADL1,NDUFS8,NDUFV1,NEAT1,NPAS4,NRXN2,NUDT22,NUDT8,NXF1,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PGA3,PGA4,PGA5,PITPNM1,PLA2G16,PLCB3,POLA2,POLD4,POLR2G,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRPF19,PTGDR2,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SF1,SF3B2,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBXN1,UNC93B1,VEGFB,VPS37C,VPS51,VWCE,WDR74,YIF1A,ZBTB3,ZDHHC24,ZFPL1,ZNHIT2,ZP1 chr11 59902534 59920000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59902534 59920000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59902534 59920000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 5990501 5992000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 159905154 159906183 Gain or loss Normal Birdsuite, version 1.5.2 22087296 IGSF9 chr1 159905621 160406638 LOH Normal High-resolution SNP genotyping 21211785 ATP1A2,ATP1A4,CASQ1,COPA,DCAF8,IGSF8,IGSF9,KCNJ10,KCNJ9,LOC100505633,NCSTN,NHLH1,PEA15,PEX19,PIGM,SLAMF9,SUMO1P3,VANGL2 chr1 15991878 15992367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159919723 159919823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 59920063 59941805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A6A chr11 59920063 59941805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A6A chr11 59920553 59941734 Gain and loss Pancreatic cancer SNP array 17952125 MS4A6A chr1 159921251 159921623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLAMF9 chr1 159921254 159921623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLAMF9 chr1 159923165 159923258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLAMF9 chr11 59927123 59927223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 159935920 159936021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505633 chr1 159943386 159950765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100505633 chr1 159943386 159950765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505633 chr11 59945804 59945854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MS4A6A chr11 5994802 5994918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5994802 5994920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 5994802 5994920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59949491 134452384 Loss Wilms tumour 250K Genotyping Arrays 21544195 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GAT3,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BEST1,BIRC2,BIRC3,BLID,BRMS1,BSCL2,BSX,BTG4,BUD13,C11orf1,C11orf10,C11orf20,C11orf24,C11orf30,C11orf34,C11orf45,C11orf48,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf83,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf9,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC86,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CD5,CD6,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CHRM1,CLCF1,CLDN25,CLMP,CLNS1A,CLPB,CNIH2,CNTN5,CORO1B,COX8A,CPSF7,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,CYBASC3,DAGLA,DAK,DCPS,DCUN1D5,DDB1,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DKFZP434K028,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DYNC2H1,EED,EEF1G,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,EML3,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FADS1,FADS2,FADS3,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEN1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FTH1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GLB1L2,GLB1L3,GNG3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INCENP,INPPL1,INTS4,INTS5,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LINC00301,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRFN4,LRP5,LRRC10B,LRRC32,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MEN1,METTL12,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR139,MIR1908,MIR192,MIR194-2,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3654,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4488,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR611,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MSANTD2,MSANTD4,MTA2,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXF1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGA3,PGA4,PGA5,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRKRIR,PRPF19,PRSS23,PTGDR2,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,ROM1,RPL23AP64,RPLP0P2,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,SAC3D1,SART1,SC5DL,SCARNA9,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCN2B,SCN3B,SCN4B,SCYL1,SDHAF2,SDHD,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC15A3,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLC3A2,SLCO2B1,SLN,SNHG1,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA57,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,STX5,SUV420H1,SYT12,SYT7,SYTL2,SYVN1,TAF1D,TAF6L,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM8B,TIRAP,TM7SF2,TMEM109,TMEM123,TMEM126A,TMEM126B,TMEM132A,TMEM133,TMEM134,TMEM135,TMEM136,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM218,TMEM223,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TTC9C,TUT1,TYR,UBASH3B,UBE4A,UBTFL1,UBXN1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS37C,VPS51,VSIG2,VSTM5,VWA5A,VWCE,WDR74,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,ZBTB16,ZBTB3,ZBTB44,ZC3H12C,ZDHHC24,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZP1,ZW10 chr11 59953638 59971835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59953638 59971835 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 59953638 59971835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159957977 159964557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159957977 159964557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59962953 59963053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 159972222 159972518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159972222 159972523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59979857 59994801 Copy number Lung cancer - 20668451 NOT_FOUND chr11 59979857 59994801 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 59979857 59994801 Gain or loss Cancer - 20668451 NOT_FOUND chr11 59979857 59994801 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 59979857 59994801 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 59979857 59994801 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 59979857 59994801 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 59979858 59994801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59979858 59994801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 59979865 59993129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 159986205 159993573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 159986205 159993573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 15998671 16842935 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF19,C1orf64,CLCNKA,CLCNKB,CROCCP3,EPHA2,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,NECAP2,PLEKHM2,RSG1,SLC25A34,SPATA21,SPEN,SZRD1,TMEM82,UQCRHL,ZBTB17 chr1 159989344 161290912 Amplification Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ADAMTS4,APOA2,ARHGAP30,ATP1A2,ATP1A4,B4GALT3,CASQ1,CD244,CD48,CD84,COPA,DCAF8,DEDD,F11R,FCER1G,IGSF8,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LY9,MIR5187,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NR1I3,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,SDHC,SLAMF1,SLAMF6,SLAMF7,SUMO1P3,TOMM40L,TSTD1,UFC1,USF1,USP21,VANGL2 chr1 159989344 161290912 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ADAMTS4,APOA2,ARHGAP30,ATP1A2,ATP1A4,B4GALT3,CASQ1,CD244,CD48,CD84,COPA,DCAF8,DEDD,F11R,FCER1G,IGSF8,ITLN1,ITLN2,KCNJ10,KCNJ9,KLHDC9,LY9,MIR5187,MPZ,NCSTN,NDUFS2,NHLH1,NIT1,NR1I3,PCP4L1,PEA15,PEX19,PFDN2,PIGM,PPOX,PVRL4,SDHC,SLAMF1,SLAMF6,SLAMF7,SUMO1P3,TOMM40L,TSTD1,UFC1,USF1,USP21,VANGL2 chr1 159999140 160540332 LOH Normal High-resolution SNP genotyping 21211785 ATP1A2,ATP1A4,CASQ1,CD84,COPA,DCAF8,IGSF8,KCNJ10,KCNJ9,NCSTN,NHLH1,PEA15,PEX19,PIGM,SLAMF6,SUMO1P3,VANGL2 chr1 16000000 114142980 Loss Chordoma Array CGH 21602918 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,ACTL8,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf151-NBL1,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CACHD1,CAMK2N1,CAP1,CAPZA1,CAPZB,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD164L2,CD52,CD53,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA3A,CELA3B,CELSR2,CEP85,CEPT1,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DDAH1,DDOST,DDX20,DEM1,DENND2D,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO42,FCN3,FGGY,FGR,FHL3,FLJ27354,FLJ31662,FLJ37453,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFM1,HHLA3,HIAT1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC653160,LOC728431,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,MACF1,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4256,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTMR9LP,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NR0B2,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDZK1IP1,PDZK1IP1-AS1,PEF1,PGCP1,PGM1,PHACTR4,PHC2,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLK3,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC25A24,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SRG7,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYDE2,SYF2,SYNC,SYPL2,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TAS1R2,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC39A,TTC4,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VAV3,VAV3-AS1,VCAM1,VWA5B1,WASF2,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 60000 1550000 Gain Breast cancer aCGH 21509527 ANO9,AP2A2,ATHL1,B4GALNT4,BET1L,BRSK2,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC100133161,LOC143666,LOC255512,LOC653486,LRRC56,MIR210,MIR210HG,MOB2,MUC2,MUC5B,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,TALDO1,TMEM80,TOLLIP,TSPAN4 chr1 160002297 160002397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 160002708 160195476 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP1A2,ATP1A4,CASQ1,DCAF8,IGSF8,KCNJ10,KCNJ9,PEA15 chr1 160002708 160195476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP1A2,ATP1A4,CASQ1,DCAF8,IGSF8,KCNJ10,KCNJ9,PEA15 chr1 160002708 160195476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP1A2,ATP1A4,CASQ1,DCAF8,IGSF8,KCNJ10,KCNJ9,PEA15 chr11 60011169 60043466 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 60016827 60031469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60016827 60031469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60016827 60031471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60019460 60019536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 160023383 160057205 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ10,KCNJ9 chr11 60039462 60066765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A4A chr11 60039462 60066765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A4A chr1 1600403 1600646 Gain and loss Pancreatic cancer SNP array 17952125 CDK11B,SLC35E2B chr11 6004554 6005498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6004554 6005510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6004554 6005510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16006456 16006731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60077053 60077144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60078815 60078913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 160097520 160108831 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATP1A2 chr1 160102273 160102357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP1A2 chr1 160107366 160107466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP1A2 chr1 16011438 16011508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHM2 chr11 6011519 6011619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60115896 60354538 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-693K arrays 21546498 MS4A1,MS4A12,MS4A13,MS4A14,MS4A5,MS4A7 chr1 160129516 160129616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP1A4 chr1 16013672 16047820 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM2 chr11 60139800 60211195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A14,MS4A5,MS4A7 chr11 60139800 60211195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A14,MS4A5,MS4A7 chr11 60145120 60173336 Gain and loss Pancreatic cancer SNP array 17952125 MS4A14,MS4A7 chr1 160169949 160170053 Gain and loss Pancreatic cancer SNP array 17952125 CASQ1 chr1 160169964 160170053 Gain and loss Pancreatic cancer SNP array 17952125 CASQ1 chr11 601797 601874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PHRF1 chr11 6021060 6022409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 160210932 160211020 Gain and loss Pancreatic cancer SNP array 17952125 DCAF8 chr1 160210932 160211020 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 DCAF8 chr1 160219606 160260268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COPA,DCAF8,PEX19 chr1 160219606 160260268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPA,DCAF8,PEX19 chr11 60223623 60239858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A1 chr11 60223623 60239858 Gain and loss Pancreatic cancer SNP array 17952125 MS4A1 chr11 60223623 60239858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A1 chr1 16022491 16026775 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 PLEKHM2 chr1 16024203 16038247 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 PLEKHM2 chr1 16024523 16028006 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLEKHM2 chr1 16024530 16028020 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PLEKHM2 chr1 16024861 16028089 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PLEKHM2 chr1 160253193 160253225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEX19 chr1 160253532 160253632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEX19 chr11 602555 605999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHRF1 chr11 602555 605999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHRF1 chr11 60257653 60262992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A12 chr11 60257653 60262992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A12 chr1 16027314 16027751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM2 chr1 16027314 16027751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM2 chr1 160276784 161115379 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP30,CD244,CD48,CD84,COPA,DEDD,F11R,ITLN1,ITLN2,KLHDC9,LY9,NCSTN,NHLH1,NIT1,PFDN2,PVRL4,SLAMF1,SLAMF6,SLAMF7,SUMO1P3,TSTD1,USF1,VANGL2 chr11 60280916 60300780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A13 chr11 60280916 60300780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A13 chr11 60281052 60300781 Gain and loss Pancreatic cancer SNP array 17952125 MS4A13 chr11 60282755 61189309 LOH Normal High-resolution SNP genotyping 21211785 CCDC86,CD5,CD6,CPSF7,CYBASC3,DAK,DDB1,LINC00301,MS4A10,MS4A13,MS4A15,MS4A8B,PGA3,PGA4,PGA5,PRPF19,PTGDR2,SLC15A3,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr11 60293189 60293400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MS4A13 chr11 60293381 60293613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MS4A13 chr11 60295477 61171976 LOH Normal High-resolution SNP genotyping 21211785 CCDC86,CD5,CD6,CPSF7,CYBASC3,DAK,DDB1,LINC00301,MS4A10,MS4A13,MS4A15,MS4A8B,PGA3,PGA4,PGA5,PRPF19,PTGDR2,SLC15A3,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr1 160306205 160604852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD84,COPA,NCSTN,NHLH1,SLAMF1,SLAMF6,VANGL2 chr1 160306205 160604852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD84,COPA,NCSTN,NHLH1,SLAMF1,SLAMF6,VANGL2 chr1 160308937 160380511 Indels Normal Affymetrix and Illumina arrays 20811451 COPA,NCSTN,NHLH1,VANGL2 chr11 60309397 60325354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A13 chr11 60309397 60325354 Gain and loss Pancreatic cancer SNP array 17952125 MS4A13 chr11 60309397 60325354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A13 chr1 160313062 160328742 Copy number Liver carcinoma Qiagen DNeasy extraction kit 19366792 COPA,NCSTN chr1 160317401 160321200 Deletion Glioma mate-paired sequence 20126413 NCSTN chr1 160319290 160319609 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCSTN chr11 60327987 60328473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 16033561 16047229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM2 chr1 16033561 16047229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM2 chr11 60337339 60337408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 6035122 6036036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6035122 6036081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 160352397 160383173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VANGL2 chr1 160359719 160391482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VANGL2 chr11 60362575 60364421 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 60366005 60375137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60366005 60375137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60366120 60375129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60374974 60380020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60374974 60380020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60374983 60380020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60380085 61189309 LOH Normal High-resolution SNP genotyping 21211785 CCDC86,CD5,CD6,CPSF7,CYBASC3,DAK,DDB1,LINC00301,MS4A10,MS4A15,MS4A8B,PGA3,PGA4,PGA5,PRPF19,PTGDR2,SLC15A3,TMEM109,TMEM132A,TMEM138,TMEM216,VPS37C,VWCE,ZP1 chr1 16038248 16088096 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FBLIM1,PLEKHM2,SLC25A34,TMEM82 chr11 60391591 60399740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00301 chr11 60391591 60399740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00301 chr11 60391611 60399739 Gain and loss Pancreatic cancer SNP array 17952125 LINC00301 chr1 160398162 160398262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VANGL2 chr1 16041432 16041986 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM2 chr11 60414768 60430623 Gain and loss Pancreatic cancer SNP array 17952125 LINC00301 chr11 60414796 60430632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00301 chr11 60414796 60430632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00301 chr11 6043585 6043685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60438253 60447489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00301 chr11 60438253 60447489 Gain and loss Pancreatic cancer SNP array 17952125 LINC00301 chr11 60438253 60447489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00301 chr11 60448489 60461207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00301 chr11 60448489 60461207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00301 chr11 60448522 60461206 Gain and loss Pancreatic cancer SNP array 17952125 LINC00301 chr11 60449795 60484274 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 LINC00301,MS4A8B chr11 60452430 60452530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00301 chr1 160458066 160458166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLAMF6 chr11 60461134 60475833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A8B chr11 60461134 60475833 Gain and loss Pancreatic cancer SNP array 17952125 MS4A8B chr11 60461134 60475833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A8B chr1 16046946 16139537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBLIM1,PLEKHM2,SLC25A34,TMEM82,UQCRHL chr1 16046946 16139537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBLIM1,PLEKHM2,SLC25A34,TMEM82,UQCRHL chr1 160470652 160470720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLAMF6 chr11 60488634 60488734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60495728 60544422 Gain and loss Pancreatic cancer SNP array 17952125 MS4A15 chr11 60495750 60544422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MS4A15 chr11 60495750 60544422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MS4A15 chr11 60496022 60496122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 160497373 160497921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 160500000 165500000 Copy number Idiopathic thrombocytopenic purpura MLPA, Real-time quantitative PCR 17827395 ADAMTS4,APOA2,ARHGAP30,ATF6,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf226,CD244,CD48,CD84,DDR2,DEDD,DUSP12,F11R,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,ITLN1,ITLN2,KLHDC9,LMX1A,LOC100505795,LOC400794,LY9,MIR4654,MIR5187,MIR556,MPZ,NDUFS2,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,PBX1,PCP4L1,PFDN2,PPOX,PVRL4,RGS4,RGS5,RPL31P11,RXRG,SDHC,SH2D1B,SLAMF1,SLAMF7,TOMM40L,TSTD1,UAP1,UFC1,UHMK1,USF1,USP21 chr1 160500000 165500000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADAMTS4,APOA2,ARHGAP30,ATF6,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf226,CD244,CD48,CD84,DDR2,DEDD,DUSP12,F11R,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,ITLN1,ITLN2,KLHDC9,LMX1A,LOC100505795,LOC400794,LY9,MIR4654,MIR5187,MIR556,MPZ,NDUFS2,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,PBX1,PCP4L1,PFDN2,PPOX,PVRL4,RGS4,RGS5,RPL31P11,RXRG,SDHC,SH2D1B,SLAMF1,SLAMF7,TOMM40L,TSTD1,UAP1,UFC1,UHMK1,USF1,USP21 chr1 160500000 165500000 Gain Mental retardation Array CGH 17847001 ADAMTS4,APOA2,ARHGAP30,ATF6,B4GALT3,C1orf110,C1orf111,C1orf192,C1orf226,CD244,CD48,CD84,DDR2,DEDD,DUSP12,F11R,FCER1G,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,ITLN1,ITLN2,KLHDC9,LMX1A,LOC100505795,LOC400794,LY9,MIR4654,MIR5187,MIR556,MPZ,NDUFS2,NIT1,NOS1AP,NR1I3,NUF2,OLFML2B,PBX1,PCP4L1,PFDN2,PPOX,PVRL4,RGS4,RGS5,RPL31P11,RXRG,SDHC,SH2D1B,SLAMF1,SLAMF7,TOMM40L,TSTD1,UAP1,UFC1,UHMK1,USF1,USP21 chr1 1605038 1675863 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr11 60506095 60506175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60509109 60509215 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60509109 60509215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60515115 60515215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 160518276 160518366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD84 chr11 60558142 60558242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MS4A10 chr11 60564435 60564530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MS4A10 chr1 160578960 160579054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6059272 6059320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60593833 60601604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 160598869 160598969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLAMF1 chr1 160607266 160607366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLAMF1 chr1 160610431 160613275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLAMF1 chr1 160610431 160613275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLAMF1 chr1 160618274 160620147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 160618274 160620147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 160621770 160629112 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 60623653 60623753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 160624565 160624768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60626543 60651895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZP1 chr11 60626543 60651895 Gain and loss Pancreatic cancer SNP array 17952125 ZP1 chr11 60626543 60651895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZP1 chr1 160631680 160648552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD48 chr1 160631680 160648552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD48 chr11 60641435 60641515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZP1 chr11 60654306 60685500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPF19,TMEM109 chr11 60654306 60685500 Gain and loss Pancreatic cancer SNP array 17952125 PRPF19,TMEM109 chr11 60654306 60685500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF19,TMEM109 chr11 606575 616078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRF7,PHRF1 chr11 606575 616078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRF7,PHRF1 chr11 60669725 60731709 Gain aortic dissecting aneurysms Array-CGH 22263138 PRPF19,SLC15A3,TMEM109,TMEM132A chr11 60669725 60731709 Gain Stenocardia MACArray Karyo 55K BAC-chips 21860640 PRPF19,SLC15A3,TMEM109,TMEM132A chr11 60669725 60731709 Gain Vasospasm MACArray Karyo 55K BAC-chips 21860640 PRPF19,SLC15A3,TMEM109,TMEM132A chr11 60671936 60837233 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD6,PRPF19,SLC15A3,TMEM109,TMEM132A chr11 60671936 60837233 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD6,PRPF19,SLC15A3,TMEM109,TMEM132A chr1 160681963 160682300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 160688233 160688273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60721181 60777607 Gain or loss Normal aCGH 21627829 CD6 chr11 60721715 60777062 Loss Autism 1M Ailent CGH whole-genome array 21865298 CD6 chr11 60722292 60777657 Gain Autism 1M Ailent CGH whole-genome array 21865298 CD6 chr11 60726490 60730664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 60726519 60727222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 60727385 60735942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 60727560 60736926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60727560 60736926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60727583 60736910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60727710 60772478 Loss Autism 1M Ailent CGH whole-genome array 21865298 CD6 chr11 60728259 60770465 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD6 chr11 60728399 60776032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD6 chr1 160733587 160760468 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 160734279 160760468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 160734279 160760468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60734862 60762274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD6 chr11 60735629 60764802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD6 chr11 60740163 60740263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD6 chr11 60744825 60763649 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 CD6 chr11 60746396 60755755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD6 chr11 60754191 60756259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD6 chr1 16076037 16080608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60764594 60783712 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD6 chr11 60765222 60775505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD6 chr11 60765222 60775505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD6 chr11 60765244 60775491 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 CD6 chr11 60765245 60775489 Gain and loss Pancreatic cancer SNP array 17952125 CD6 chr1 160777746 160778042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LY9 chr11 60778731 60810496 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CD6 chr11 60778731 60813629 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CD6 chr11 60782334 60819364 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD6 chr11 60782334 60819364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD6 chr11 60782336 60819139 Gain and loss Pancreatic cancer SNP array 17952125 CD6 chr1 160797947 160836250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD244,LY9 chr1 160797947 160836250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD244,LY9 chr11 60818454 60818536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60823494 60857242 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 60823494 60857242 Gain or loss Cancer - 20668451 NOT_FOUND chr11 60823494 60857242 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 60823494 60857242 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 60823494 60857242 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 60823494 60857242 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 60823508 60857153 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60823510 60857143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60823510 60857143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60828067 60828167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 60830001 60834000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 60844501 60856500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 6085585 6086544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6085585 6086544 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6085585 6086544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60857230 60872806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD5 chr11 60857230 60872806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD5 chr11 60857269 60870964 Gain and loss Pancreatic cancer SNP array 17952125 CD5 chr1 16085833 16091395 Gain and loss Pancreatic cancer SNP array 17952125 FBLIM1 chr11 60864702 60901777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CD5,VPS37C chr1 160868851 161016871 Gain or loss Breast cancer - 20668451 ARHGAP30,F11R,ITLN2,TSTD1,USF1 chr1 160868851 161016871 Gain or loss Cancer - 20668451 ARHGAP30,F11R,ITLN2,TSTD1,USF1 chr1 160868851 161016871 Gain or loss Lung cancer - 20668451 ARHGAP30,F11R,ITLN2,TSTD1,USF1 chr1 160868851 161016871 Gain or loss Ovarian cancer - 20668451 ARHGAP30,F11R,ITLN2,TSTD1,USF1 chr1 160868851 161016871 Gain or loss Pancreas cancer - 20668451 ARHGAP30,F11R,ITLN2,TSTD1,USF1 chr1 160868851 161016871 Gain or loss Prostate cancer - 20668451 ARHGAP30,F11R,ITLN2,TSTD1,USF1 chr1 160868852 161016861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP30,F11R,ITLN2,TSTD1,USF1 chr1 160868852 161016861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP30,F11R,ITLN2,TSTD1,USF1 chr11 60870514 60870574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD5 chr11 60872856 60886305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD5 chr11 60872856 60886305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD5 chr11 60872856 60886322 Gain and loss Pancreatic cancer SNP array 17952125 CD5 chr11 60886432 60893254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD5 chr11 60886432 60893254 Gain and loss Pancreatic cancer SNP array 17952125 CD5 chr11 60886432 60893254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD5 chr1 1 60900000 Chromosomal rearrangement Papillary thyroid carcinoma References 21436994 AADACL3,AADACL4,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,JUN,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRP8,LRRC38,LRRC41,LRRC42,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSBP3,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TXLNA,TXNDC12,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP24,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr11 60916441 60939659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS37C chr11 60916655 60922891 Gain and loss Pancreatic cancer SNP array 17952125 VPS37C chr11 6092299 60916441 Copy number Autism exome sequencing 22495311 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,AKIP1,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,APBB1,API5,APIP,APLNR,ARFGAP2,ARFIP2,ARHGAP1,ARL14EP,ARNTL,ASCL3,ATG13,BBOX1,BDNF,BDNF-AS,BTBD10,BTBD18,C11orf16,C11orf31,C11orf42,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CAT,CCDC34,CCDC73,CCDC86,CCKBR,CD44,CD5,CD59,CD6,CD82,CELF1,CHRM4,CHST1,CKAP5,CLP1,CNGA4,CNTF,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTNND1,CTR9,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DCHS1,DDB2,DENND5A,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,DNHD1,DTX4,E2F8,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EXT2,F2,FAM111A,FAM111B,FAM160A2,FAM180B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FOLH1,FSHB,FXC1,GALNTL4,GAS2,GIF,GLYAT,GLYATL1,GLYATL2,GTF2H1,GVINP1,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HPS5,HPX,HSD17B12,HTATIP2,IGSF22,ILK,IMMP1L,INSC,IPO7,KBTBD4,KCNA4,KCNC1,KCNJ11,KIAA1549L,KIF18A,KRT8P41,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LINC00301,LMO1,LMO2,LOC100126784,LOC100500938,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC283194,LOC283299,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC729013,LPXN,LRP4,LRP4-AS1,LRRC4C,LRRC55,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,MED19,METTL15,MICAL2,MICALCL,MIR129-2,MIR130A,MIR1343,MIR3160-1,MIR3160-2,MIR3162,MIR3973,MIR4299,MIR4485,MIR4486,MIR4688,MIR4694,MIR5582,MIR5691,MIR610,MIR670,MPEG1,MPPED2,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL16,MRPL17,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTCH2,MTRNR2L8,MUC15,MYBPC3,MYOD1,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NLRP10,NLRP14,NR1H3,NRIP3,NUCB2,NUP160,OLFML1,OR10A2,OR10A3,OR10A4,OR10A5,OR10A6,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AG1,OR2AG2,OR2D2,OR2D3,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR52B2,OR52W1,OR56B4,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6A2,OR6Q1,OR7E14P,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,OSBP,OVCH2,P2RX3,PACSIN3,PAMR1,PARVA,PATL1,PAX6,PDE3B,PDHX,PEX16,PHF21A,PIK3C2A,PLAC1L,PLEKHA7,PPFIBP2,PRDM11,PRG2,PRG3,PRKCDBP,PRMT3,PRPF19,PRR5L,PRRG4,PSMA1,PSMC3,PTGDR2,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RBMXL2,RCN1,RIC3,RNF141,RPL27A,RPS13,RRAS2,RRP8,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCUBE2,SEC14L1P1,SERGEF,SERPING1,SLC15A3,SLC17A6,SLC1A2,SLC35C1,SLC39A13,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SMPD1,SMTNL1,SNORA23,SNORA3,SNORA45,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,SSRP1,ST5,STK33,STX3,SVIP,SWAP70,SYT13,SYT9,TAF10,TCN1,TCP11L1,TEAD1,TIMM10,TMEM109,TMEM132A,TMEM41B,TMEM86A,TMEM9B,TMX2,TMX2-CTNND1,TNKS1BP1,TP53I11,TPH1,TPP1,TRAF6,TRIM3,TRIM44,TRIM48,TRIM49B,TRIM51,TRIM51GP,TRIM51HP,TRIM64C,TRIM66,TSG101,TSPAN18,TTC17,TUB,UBE2L6,UEVLD,USH1C,USP47,VPS37C,WEE1,WT1,WT1-AS,YPEL4,ZBED5,ZDHHC13,ZDHHC5,ZFP91,ZFP91-CNTF,ZNF143,ZNF214,ZNF215,ZNF408,ZP1 chr11 60926697 60953996 Gain and loss Pancreatic cancer SNP array 17952125 VPS37C chr11 60926697 60954021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS37C chr11 60926697 60954021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS37C chr1 16094416 16105848 Gain and loss Pancreatic cancer SNP array 17952125 FBLIM1 chr11 60954173 60970801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60954173 60970801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60968188 60968477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 60968188 60968477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 60970713 78077527 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ACER3,ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ALG8,ANAPC15,ANKRD13D,ANO1,AP5B1,AQP11,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ASRGL1,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf24,C11orf30,C11orf48,C11orf67,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CLCF1,CLNS1A,CLPB,CNIH2,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTSF,CTSW,CTTN,CYBASC3,DAGLA,DAK,DDB1,DEFB108B,DGAT2,DHCR7,DKFZP434K028,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FTH1,GAB2,GAL,GAL3ST3,GANAB,GDPD4,GDPD5,GNG3,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INCENP,INPPL1,INTS4,INTS5,KAT5,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC10B,LRRC32,LRRN4CL,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,METTL12,MIR1237,MIR139,MIR1908,MIR192,MIR194-2,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR611,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTA2,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,NXF1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGA3,PGA4,PGA5,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,ROM1,RPLP0P2,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SLCO2B1,SNHG1,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,THRSP,TIGD3,TM7SF2,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,TTC9C,TUT1,UBXN1,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS51,VWCE,WDR74,WNT11,XRRA1,YIF1A,ZBTB3,ZDHHC24,ZFPL1,ZNHIT2 chr11 60971628 61396955 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPSF7,CYBASC3,DAK,DDB1,LRRC10B,MIR4488,PGA3,PGA4,PGA5,PPP1R32,RPLP0P2,SDHAF2,SYT7,TMEM138,TMEM216,VWCE chr11 60971628 61396955 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPSF7,CYBASC3,DAK,DDB1,LRRC10B,MIR4488,PGA3,PGA4,PGA5,PPP1R32,RPLP0P2,SDHAF2,SYT7,TMEM138,TMEM216,VWCE chr11 60998501 61112500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DAK,DDB1,PGA4,PGA5,VWCE chr1 16100000 20300000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2E,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,UQCRHL,ZBTB17 chr1 16100000 20300000 Amplification Normal Refference 21823210 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2E,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,UQCRHL,ZBTB17 chr1 16100000 20300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2E,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,UQCRHL,ZBTB17 chr1 16100000 20300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2E,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,UQCRHL,ZBTB17 chr1 16100000 20300000 Copy number Breast cancer BAC array 16272173 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2E,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,UQCRHL,ZBTB17 chr1 16100000 20300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2E,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,UQCRHL,ZBTB17 chr1 16100000 20300000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBLIM1,FBXO42,FLJ37453,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2E,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,UQCRHL,ZBTB17 chr1 16100000 23800000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ASAP3,ATP13A2,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf213,C1orf64,CAMK2N1,CAPZB,CDA,CDC42,CELA3A,CELA3B,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,DDOST,ECE1,EIF4G3,EMC1,EPHA2,EPHA8,EPHB2,ESPNP,FAM131C,FAM43B,FBLIM1,FBXO42,FLJ37453,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,IFFO2,IGSF21,KDM1A,KIF17,KLHDC7A,LDLRAD2,LINC00339,LOC100506730,LOC100506801,LOC339505,LOC729059,LUZP1,MFAP2,MINOS1,MIR3115,MIR3675,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,NBL1,NBPF1,NBPF3,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PQLC2,RAP1GAP,RCC2,RNF186,RSG1,SDHB,SH2D5,SPATA21,SPEN,SZRD1,TAS1R2,TCEA3,TMCO4,UBR4,UBXN10,UQCRHL,USP48,VWA5B1,WNT4,ZBTB17,ZBTB40,ZNF436 chr1 16100000 27800000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ACTL8,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,C1orf64,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLCNKA,CLCNKB,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,CROCCP3,DDOST,DHDDS,E2F2,ECE1,EIF4G3,EMC1,EPHA2,EPHA8,EPHB2,ESPNP,EXTL1,FAM110D,FAM131C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO42,FCN3,FLJ37453,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PQLC2,RAP1GAP,RCAN3,RCAN3AS,RCC2,RHCE,RHD,RNF186,RPL11,RPS6KA1,RSG1,RUNX3,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SPATA21,SPEN,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,SZRD1,TAS1R2,TCEA3,TCEB3,TMCO4,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,VWA5B1,WASF2,WDTC1,WNT4,ZBTB17,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 16100000 27800000 Deletion Biliary cancer Array CGH 19435499 ACTL8,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,C1orf64,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLCNKA,CLCNKB,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,CROCCP3,DDOST,DHDDS,E2F2,ECE1,EIF4G3,EMC1,EPHA2,EPHA8,EPHB2,ESPNP,EXTL1,FAM110D,FAM131C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO42,FCN3,FLJ37453,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PQLC2,RAP1GAP,RCAN3,RCAN3AS,RCC2,RHCE,RHD,RNF186,RPL11,RPS6KA1,RSG1,RUNX3,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SPATA21,SPEN,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,SZRD1,TAS1R2,TCEA3,TCEB3,TMCO4,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,VWA5B1,WASF2,WDTC1,WNT4,ZBTB17,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 16100000 27800000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ACTL8,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,C1orf64,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLCNKA,CLCNKB,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,CROCCP3,DDOST,DHDDS,E2F2,ECE1,EIF4G3,EMC1,EPHA2,EPHA8,EPHB2,ESPNP,EXTL1,FAM110D,FAM131C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO42,FCN3,FLJ37453,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PQLC2,RAP1GAP,RCAN3,RCAN3AS,RCC2,RHCE,RHD,RNF186,RPL11,RPS6KA1,RSG1,RUNX3,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SPATA21,SPEN,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,SZRD1,TAS1R2,TCEA3,TCEB3,TMCO4,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,VWA5B1,WASF2,WDTC1,WNT4,ZBTB17,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 16100000 34400000 Copy number Breast cancer - 16397240 ACTL8,ADC,AHDC1,AIM1L,AK2,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,ATPIF1,AUNIP,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,C1orf64,CAMK2N1,CAPZB,CATSPER4,CCDC28B,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLCNKA,CLCNKB,CLIC4,CNKSR1,CNR2,COL16A1,CROCC,CROCCP2,CROCCP3,CSMD2,DCDC2B,DDOST,DHDDS,DNAJC8,E2F2,ECE1,EIF3I,EIF4G3,EMC1,EPB41,EPHA2,EPHA8,EPHB2,ESPNP,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM167B,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO42,FCN3,FGR,FLJ37453,FNDC5,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HCRTR1,HDAC1,HMGB4,HMGCL,HMGN2,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,IQCC,KDM1A,KHDRBS1,KIAA1522,KIF17,KLHDC7A,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100128071,LOC100506730,LOC100506801,LOC100506963,LOC149086,LOC284551,LOC284632,LOC339505,LOC402779,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MARCKSL1,MATN1,MATN1-AS1,MDS2,MECR,MED18,MFAP2,MINOS1,MIR1976,MIR3115,MIR3605,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4420,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MTMR9LP,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NKAIN1,NR0B2,NUDC,OPRD1,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PEF1,PHACTR4,PHC2,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PPP1R8,PQLC2,PTAFR,PTP4A2,PTPRU,PUM1,RAB42,RAP1GAP,RBBP4,RCAN3,RCAN3AS,RCC1,RCC2,RHCE,RHD,RNF186,RNF19B,RNU11,RPA2,RPL11,RPS6KA1,RSG1,RUNX3,S100PBP,SCARNA1,SDC3,SDHB,SEPN1,SERINC2,SESN2,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SRRM1,SRSF10,SRSF4,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TAS1R2,TCEA3,TCEB3,THEMIS2,TINAGL1,TMCO4,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM50A,TMEM54,TMEM57,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TXLNA,UBR4,UBXN10,UBXN11,UQCRHL,USP48,VWA5B1,WASF2,WDTC1,WNT4,XKR8,YARS,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr1 16100000 34400000 Loss Non-small cell lung cancer - 21385341 ACTL8,ADC,AHDC1,AIM1L,AK2,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,ATPIF1,AUNIP,BAI2,BSDC1,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,C1orf64,CAMK2N1,CAPZB,CATSPER4,CCDC28B,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLCNKA,CLCNKB,CLIC4,CNKSR1,CNR2,COL16A1,CROCC,CROCCP2,CROCCP3,CSMD2,DCDC2B,DDOST,DHDDS,DNAJC8,E2F2,ECE1,EIF3I,EIF4G3,EMC1,EPB41,EPHA2,EPHA8,EPHB2,ESPNP,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM167B,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO42,FCN3,FGR,FLJ37453,FNDC5,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HCRTR1,HDAC1,HMGB4,HMGCL,HMGN2,HNRNPR,HP1BP3,HPCA,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,IQCC,KDM1A,KHDRBS1,KIAA1522,KIF17,KLHDC7A,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100128071,LOC100506730,LOC100506801,LOC100506963,LOC149086,LOC284551,LOC284632,LOC339505,LOC402779,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MARCKSL1,MATN1,MATN1-AS1,MDS2,MECR,MED18,MFAP2,MINOS1,MIR1976,MIR3115,MIR3605,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4420,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MTMR9LP,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NKAIN1,NR0B2,NUDC,OPRD1,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PEF1,PHACTR4,PHC2,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PPP1R8,PQLC2,PTAFR,PTP4A2,PTPRU,PUM1,RAB42,RAP1GAP,RBBP4,RCAN3,RCAN3AS,RCC1,RCC2,RHCE,RHD,RNF186,RNF19B,RNU11,RPA2,RPL11,RPS6KA1,RSG1,RUNX3,S100PBP,SCARNA1,SDC3,SDHB,SEPN1,SERINC2,SESN2,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SRRM1,SRSF10,SRSF4,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,TAF12,TAS1R2,TCEA3,TCEB3,THEMIS2,TINAGL1,TMCO4,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM50A,TMEM54,TMEM57,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TXLNA,UBR4,UBXN10,UBXN11,UQCRHL,USP48,VWA5B1,WASF2,WDTC1,WNT4,XKR8,YARS,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZNF362,ZNF436,ZNF593,ZNF683,ZSCAN20 chr11 61005168 61014975 Gain and loss Pancreatic cancer SNP array 17952125 PGA5 chr11 61005168 61014975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGA5 chr1 1610062 1675863 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr1 1610062 1675863 Copy number gain Normal High-resolution SNP genotyping 21211785 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr1 161014145 161014428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USF1 chr1 161027120 161049231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP30,PVRL4 chr1 161027120 161049231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP30,PVRL4 chr1 161027682 161062157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP30,PVRL4 chr11 61033113 61033838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWCE chr11 61033113 61033838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWCE chr1 161034676 161034772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP30 chr11 61039362 61104874 Gain and loss Pancreatic cancer SNP array 17952125 DAK,DDB1,VWCE chr11 61039369 61104874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAK,DDB1,VWCE chr11 61039369 61104874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAK,DDB1,VWCE chr1 161042771 161043107 Gain and loss Pancreatic cancer SNP array 17952125 PVRL4 chr11 61042898 61824729 LOH Normal High-resolution SNP genotyping 21211785 BEST1,C11orf10,C11orf9,CPSF7,CYBASC3,DAGLA,DAK,DDB1,DKFZP434K028,FADS1,FADS2,FADS3,FEN1,FTH1,LRRC10B,MIR1908,MIR4488,MIR611,PPP1R32,RAB3IL1,RPLP0P2,SDHAF2,SYT7,TMEM138,TMEM216,VWCE chr1 1610517 1610617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDK11B,SLC35E2B chr1 161052162 161052283 Gain and loss Pancreatic cancer SNP array 17952125 PVRL4 chr1 161052172 161052282 Gain and loss Pancreatic cancer SNP array 17952125 PVRL4 chr1 161057662 161058265 Gain and loss Pancreatic cancer SNP array 17952125 PVRL4 chr1 161061209 161085881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC9,PFDN2 chr11 6106416 6107282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6106416 6107282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61083960 61117683 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYBASC3,DAK,DDB1 chr1 161087730 161105229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEDD,NIT1,PFDN2 chr1 161087730 161105229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEDD,NIT1,PFDN2 chr1 161090813 161588657 Deletion Normal Affymetrix 6.0 microarrays 20967226 ADAMTS4,APOA2,B4GALT3,C1orf192,DEDD,FCER1G,FCGR2A,FCGR2C,FCGR3A,HSPA6,HSPA7,MIR5187,MPZ,NDUFS2,NIT1,NR1I3,PCP4L1,PPOX,SDHC,TOMM40L,UFC1,USP21 chr1 16109333 16135098 Gain Normal 244K array 17666407 FBLIM1,UQCRHL chr1 16109979 16110077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBLIM1 chr11 6110832 7034097 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APBB1,ARFIP2,C11orf42,CCKBR,CNGA4,DCHS1,DNHD1,FAM160A2,FXC1,GVINP1,HPX,ILK,MRPL17,OR10A2,OR10A4,OR10A5,OR2AG1,OR2AG2,OR2D2,OR2D3,OR52B2,OR52W1,OR56B4,OR6A2,PRKCDBP,RRP8,SMPD1,TAF10,TPP1,TRIM3,ZNF214,ZNF215 chr1 161114976 161373731 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS4,APOA2,B4GALT3,C1orf192,FCER1G,MIR5187,MPZ,NDUFS2,NR1I3,PCP4L1,PPOX,SDHC,TOMM40L,UFC1,USP21 chr11 61145198 61145416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 61145216 61145337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 61149033 61163497 Gain and loss Pancreatic cancer SNP array 17952125 TMEM216 chr11 61155472 70912249 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACTN3,ACY3,ADRBK1,AHNAK,AIP,ALDH3B1,ALDH3B2,ANKRD13D,ANO1,AP5B1,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf24,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHKA,CHRM1,CLCF1,CNIH2,CORO1B,COX8A,CPSF7,CPT1A,CST6,CTSF,CTSW,CTTN,DAGLA,DKFZP434K028,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADD,FADS1,FADS2,FADS3,FAM86C2P,FAM89B,FAU,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL,GAL3ST3,GANAB,GNG3,GPHA2,GPR137,GPR152,GSTP1,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,IGHMBP2,INCENP,INTS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LRP5,LRRC10B,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,METTL12,MIR1237,MIR1908,MIR192,MIR194-2,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR4488,MIR4489,MIR4690,MIR4691,MIR548AR,MIR548K,MIR611,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL49,MTA2,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NDUFS8,NDUFV1,NEAT1,NPAS4,NRXN2,NUDT22,NUDT8,NXF1,ORAOV1,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PITPNM1,PLA2G16,PLCB3,POLA2,POLD4,POLR2G,PPFIA1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDX5,PTPRCAP,PYGM,RAB1B,RAB3IL1,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SDHAF2,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,STX5,SUV420H1,SYT12,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TMEM179B,TMEM216,TMEM223,TPCN2,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBXN1,UNC93B1,VEGFB,VPS51,WDR74,YIF1A,ZBTB3,ZDHHC24,ZFPL1,ZNHIT2 chr1 16115631 16129108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 61160728 61161688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM216 chr1 161197407 161197502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOMM40L chr11 61204481 61271048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R32,SDHAF2 chr11 61204481 61271048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R32,SDHAF2 chr11 61204486 61271044 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R32,SDHAF2 chr11 61214501 61317500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC10B,MIR4488,PPP1R32,SYT7 chr1 161215965 161216207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 161260718 161551235 Gain and loss Pancreatic cancer SNP array 17952125 C1orf192,FCGR2A,FCGR2C,FCGR3A,HSPA6,MPZ,SDHC chr11 61270974 61281697 Gain and loss Pancreatic cancer SNP array 17952125 LRRC10B,MIR4488,SYT7 chr11 61276697 61312565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC10B,SYT7 chr11 61276697 61312565 Gain and loss Pancreatic cancer SNP array 17952125 LRRC10B,SYT7 chr11 61276697 61312565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC10B,SYT7 chr1 161277369 161294929 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MPZ,SDHC chr11 61281041 61281697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61285817 61285917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT7 chr11 61288904 61291861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61294746 61326534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SYT7 chr1 16129572 16145427 Gain and loss Pancreatic cancer SNP array 17952125 UQCRHL chr11 6129582 6130394 Gain and loss Pancreatic cancer SNP array 17952125 OR56B4 chr11 6129582 6130394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR56B4 chr1 1 61300000 Deletion Adenoid cystic carcinoma Array CGH 18698036 AADACL3,AADACL4,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,JUN,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRP8,LRRC38,LRRC41,LRRC42,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSBP3,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TXLNA,TXNDC12,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP24,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr1 161305559 161313216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDHC chr1 161305559 161313216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDHC chr11 61313179 61316658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61313179 61316658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61313181 61316661 Gain and loss Pancreatic cancer SNP array 17952125 SYT7 chr11 61316543 61316609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61316725 61321286 Gain or loss Breast cancer - 20668451 SYT7 chr11 61316725 61321286 Gain or loss Cancer - 20668451 SYT7 chr11 61316725 61321286 Gain or loss Lung cancer - 20668451 SYT7 chr11 61316725 61321286 Gain or loss Ovarian cancer - 20668451 SYT7 chr11 61316725 61321286 Gain or loss Pancreas cancer - 20668451 SYT7 chr11 61316725 61321286 Gain or loss Prostate cancer - 20668451 SYT7 chr11 61316726 61321284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61316726 61321284 Gain and loss Pancreatic cancer SNP array 17952125 SYT7 chr11 61316726 61321284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61323679 61340886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61323679 61340886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61323679 61415582 Gain and loss Pancreatic cancer SNP array 17952125 RPLP0P2,SYT7 chr1 16132501 16151000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UQCRHL chr1 161326931 161383378 Gain and loss Pancreatic cancer SNP array 17952125 C1orf192,SDHC chr11 61339001 61341500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYT7 chr11 61339209 61339288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT7 chr11 61339256 61339327 Gain and loss Pancreatic cancer SNP array 17952125 SYT7 chr11 61340325 61391401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPLP0P2,SYT7 chr11 61340325 61391401 Gain and loss Pancreatic cancer SNP array 17952125 RPLP0P2,SYT7 chr11 61340325 61391401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPLP0P2,SYT7 chr1 161340460 161340566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6136832 6136895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 6136962 6137062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 161370976 161371076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 161378724 161454008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 161378724 161454008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61389001 61444500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPLP0P2 chr11 61397575 61415582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPLP0P2 chr11 61397575 61415582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPLP0P2 chr11 61400000 63100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHNAK,ASRGL1,B3GAT3,BEST1,BSCL2,C11orf10,C11orf48,C11orf83,C11orf9,CHRM1,DAGLA,DKFZP434K028,EEF1G,EML3,FADS1,FADS2,FADS3,FEN1,FTH1,GANAB,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,INCENP,INTS5,LRRN4CL,METTL12,MIR1908,MIR3654,MIR3680-1,MIR3680-2,MIR611,MTA2,NXF1,POLR2G,RAB3IL1,ROM1,RPLP0P2,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SLC22A10,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,TAF6L,TMEM179B,TMEM223,TTC9C,TUT1,UBXN1,WDR74,ZBTB3 chr11 61400000 67100000 Gain ovarian endometriomas metaphase CGH 16273235 ACTN3,ADRBK1,AHNAK,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ASRGL1,ATG2A,ATL3,B3GAT3,B3GNT1,BAD,BANF1,BATF2,BBS1,BEST1,BRMS1,BSCL2,C11orf10,C11orf20,C11orf48,C11orf68,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CFL1,CHRM1,CNIH2,COX8A,CST6,CTSF,CTSW,DAGLA,DKFZP434K028,DNAJC4,DPF2,DPP3,DRAP1,EEF1G,EFEMP2,EHBP1L1,EHD1,EIF1AD,EML3,ESRRA,FADS1,FADS2,FADS3,FAM89B,FAU,FEN1,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,FTH1,GAL3ST3,GANAB,GNG3,GPHA2,GPR137,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LRRN4CL,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,METTL12,MIR1237,MIR1908,MIR192,MIR194-2,MIR3654,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR548AR,MIR611,MIR612,MRPL11,MRPL49,MTA2,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,NXF1,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PLA2G16,PLCB3,POLA2,POLR2G,PPP1R14B,PPP2R5B,PRDX5,PYGM,RAB1B,RAB3IL1,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,ROM1,RPLP0P2,RPS6KA4,RTN3,SAC3D1,SART1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCYL1,SF1,SF3B2,SIPA1,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,STX5,SYT12,SYVN1,TAF6L,TIGD3,TM7SF2,TMEM151A,TMEM179B,TMEM223,TRMT112,TRPT1,TSGA10IP,TTC9C,TUT1,UBXN1,VEGFB,VPS51,WDR74,YIF1A,ZBTB3,ZDHHC24,ZFPL1,ZNHIT2 chr1 161403921 161404209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16140953 16175191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ37453,SPEN chr1 16140953 16175191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ37453,SPEN chr11 61421350 61444240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61421350 61444240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61421350 61444317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 61443820 61443920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 61461942 61462042 Gain and loss Pancreatic cancer SNP array 17952125 DAGLA chr11 61461942 61462045 Gain and loss Pancreatic cancer SNP array 17952125 DAGLA chr11 61461942 61462048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAGLA chr11 6146264 6149576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 161466500 164524500 Gain Prostate cancer Array CGH 18632612 ATF6,C1orf110,C1orf111,C1orf226,DDR2,DUSP12,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,MIR4654,MIR556,NOS1AP,NUF2,OLFML2B,RGS4,RGS5,RPL31P11,SH2D1B,UAP1,UHMK1 chr11 6147161 6147954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6147161 6147954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6147161 6147954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 161472875 161472965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 161473628 161475969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCGR2A chr11 61474403 61488981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAGLA chr11 61474403 61488981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAGLA chr11 61474408 61488509 Gain and loss Pancreatic cancer SNP array 17952125 DAGLA chr1 161475204 161643863 Copy number Coronary artery disease real-time PCR 20973705 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 chr1 161484902 163283623 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATF6,C1orf110,C1orf111,C1orf226,DDR2,DUSP12,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,HSD17B7,HSPA6,HSPA7,MIR4654,MIR556,NOS1AP,OLFML2B,RGS4,RGS5,RPL31P11,SH2D1B,UAP1,UHMK1 chr11 61488335 61491708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAGLA chr11 61488335 61491708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAGLA chr11 61488614 61491679 Gain and loss Pancreatic cancer SNP array 17952125 DAGLA chr1 161491000 249250621 Amplification Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 ABCB10,ABL2,ACBD3,ACBD6,ACTA1,ACTN2,ADCK3,ADCY10,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ALDH9A1,ANGEL2,ANGPTL1,ANKRD36BP1,ANKRD45,APOBEC4,ARF1,ARID4B,ARL8A,ARPC5,ARV1,ASCL5,ASPM,ASTN1,ATF3,ATF6,ATP1B1,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,BATF3,BLZF1,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf21,C1orf220,C1orf226,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1E,CACNA1S,CACYBP,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD247,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CENPL,CEP170,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CRB1,CREG1,CSRP1,CTSE,CYB5R1,DARS2,DCAF6,DDR2,DDX59,DEGS1,DENND1B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DPT,DSTYK,DTL,DUSP10,DUSP12,DUSP27,DUSP5P,DYRK3,EDARADD,EDEM3,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,F5,FAIM3,FAM129A,FAM163A,FAM177B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM71A,FAM72A,FAM78B,FAM89A,FASLG,FBXO28,FCAMR,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,FH,FLJ23867,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,FMOD,G0S2,GALNT2,GAS5,GAS5-AS1,GCSAML,GCSAML-AS1,GGPS1,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GOLT1A,GORAB,GPA33,GPATCH2,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HSD11B1,HSD17B7,HSPA6,HSPA7,IARS2,IBA57,IER5,IGFN1,IKBKE,IL10,IL19,IL20,IL24,ILDR2,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,IVNS1ABP,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KISS1,KLHDC8A,KLHL12,KLHL20,KMO,LAD1,LAMB3,LAMC1,LAMC2,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00582,LINC00626,LINC00628,LMOD1,LMX1A,LOC100130093,LOC100130331,LOC100131234,LOC100288079,LOC100505795,LOC100505918,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC400794,LOC401980,LOC440700,LOC440704,LOC641515,LOC643723,LOC728463,LOC730102,LOC730159,LOC730227,LOC731275,LPGAT1,LRRC52,LRRN2,LYPD8,LYPLAL1,LYST,MAEL,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,METTL11B,METTL13,METTL18,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3658,MIR3916,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5191,MIR548F1,MIR556,MIR557,MIR664,MIR921,MIXL1,MPC2,MPZL1,MR1,MRPL55,MRPS14,MTR,MYBPH,MYOC,MYOG,NAV1,NCF2,NEK2,NEK7,NENF,NFASC,NID1,NLRP3,NME7,NMNAT2,NOS1AP,NPHS2,NPL,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUF2,NUP133,NVL,OBSCN,OCLM,OLFML2B,OPN3,OPTC,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PAPPA2,PARP1,PBX1,PCNXL2,PDC,PFKFB2,PGBD2,PGBD5,PHLDA3,PIGC,PIGR,PIK3C2B,PKP1,PLA2G4A,PLD5,PLEKHA6,PLXNA2,PM20D1,POGK,POU2F1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRDX6,PRELP,PRG4,PROX1,PRRC2C,PRRX1,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,QSOX1,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RC3H1,RCOR3,RCSD1,RD3,REN,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHOU,RNASEL,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPL31P11,RPS10P7,RPS6KC1,RPS7P5,RRP15,RXRG,RYR2,SCARNA3,SCCPDH,SCYL3,SDCCAG8,SDE2,SEC16B,SELE,SELL,SELP,SERPINC1,SERTAD4,SERTAD4-AS1,SFT2D2,SH2D1B,SH3BP5L,SHCBP1L,SHISA4,SIPA1L2,SLC19A2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SLC9C2,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SOAT1,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,STX6,SUCO,SUSD4,SWT1,SYT14,SYT2,TADA1,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TBX19,TDRD5,TEDDM1,TEX35,TFB2M,TGFB2,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM58,TRIM67,TRMT1L,TROVE2,TSEN15,TSNAX,TSNAX-DISC1,TTC13,UAP1,UBE2T,UCHL5,UCK2,UHMK1,URB2,USH2A,VAMP4,VASH2,VN1R5,WDR26,WDR64,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,ZBED6,ZBTB37,ZBTB41,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr11 61491842 61493538 Gain and loss Pancreatic cancer SNP array 17952125 DAGLA chr1 161513129 161513216 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 FCGR3A chr11 61517446 61517702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 61518744 61518844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 61521621 61521719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf9,DKFZP434K028 chr1 161555126 161555225 Gain and loss Pancreatic cancer SNP array 17952125 FCGR2C chr1 161555126 161555226 Gain and loss Pancreatic cancer SNP array 17952125 FCGR2C chr1 161558347 161592178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCGR2C,HSPA7 chr1 161558347 161592178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCGR2C,HSPA7 chr1 161592989 161601158 Copy number Autoimmune disease quantitative PCR assay 17529978 FCGR3B chr1 161592989 161601158 Copy number Rheumatoid arthritis Multiplex Ligation Dependent Probe Amplification 20957197 FCGR3B chr1 161592989 161601158 Copy number Systemic lupus erythematosus quantitative PCR assay 17529978 FCGR3B chr1 161592989 161601158 Copy number Wegener's granulomatosis quantitative PCR assay 17529978 FCGR3B chr1 161592989 161601158 Deletion Autoimmune disease literature search 22337955 FCGR3B chr1 161592989 161601158 Deletion Systemic lupus erythematosus Fluorescent labelled (FAM and HEX) PCR - FCGR3B chr11 616313 617173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDHR5 chr11 616313 617173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDHR5 chr11 61640416 64295119 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AHNAK,ASRGL1,ATL3,B3GAT3,BAD,BEST1,BSCL2,C11orf20,C11orf48,C11orf83,C11orf84,C11orf95,CCDC88B,CHRM1,COX8A,DNAJC4,EEF1G,EML3,ESRRA,FADS3,FERMT3,FKBP2,FLRT1,FTH1,GANAB,GNG3,GPR137,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,KCNK4,LGALS12,LOC100996455,LRRN4CL,MACROD1,MARK2,METTL12,MIR1237,MIR3654,MIR3680-1,MIR3680-2,MTA2,NAA40,NUDT22,NXF1,OTUB1,PLA2G16,PLCB3,POLR2G,PPP1R14B,PRDX5,RAB3IL1,RARRES3,RCOR2,ROM1,RPS6KA4,RTN3,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SLC22A10,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STIP1,STX5,TAF6L,TMEM179B,TMEM223,TRMT112,TRPT1,TTC9C,TUT1,UBXN1,VEGFB,WDR74,ZBTB3 chr11 61646881 61646970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FADS3 chr11 61648020 61677211 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FADS3,RAB3IL1 chr11 61648021 61677211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FADS3,RAB3IL1 chr11 61648021 61677211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FADS3,RAB3IL1 chr11 61648046 61676024 Gain and loss Pancreatic cancer SNP array 17952125 FADS3,RAB3IL1 chr1 161658819 161659578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61673842 61673923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB3IL1 chr1 16167535 20948798 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAMK2N1,CAPZB,CDA,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FAM43B,FBXO42,FLJ37453,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,LOC339505,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,UBXN10,VWA5B1,ZBTB17 chr1 161680921 161681032 Gain and loss Pancreatic cancer SNP array 17952125 FCRLA chr1 161680953 161681032 Gain and loss Pancreatic cancer SNP array 17952125 FCRLA chr1 16168711 16169278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ37453 chr11 61700000 63400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AHNAK,ASRGL1,ATL3,B3GAT3,BEST1,BSCL2,C11orf48,C11orf83,CHRM1,EEF1G,EML3,FTH1,GANAB,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INCENP,INTS5,LGALS12,LRRN4CL,METTL12,MIR3654,MIR3680-1,MIR3680-2,MTA2,NXF1,PLA2G16,POLR2G,RARRES3,ROM1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SLC22A10,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,TAF6L,TMEM179B,TMEM223,TTC9C,TUT1,UBXN1,WDR74,ZBTB3 chr11 61701361 61702361 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr11 617013 627413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDHR5,SCT chr11 61701364 61701661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 161704907 161705019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61714264 61717585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEST1 chr11 61714264 61717585 Gain and loss Pancreatic cancer SNP array 17952125 BEST1 chr11 61714264 61717585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEST1 chr1 161716436 161978195 Amplification or deletion Cancer Array CGH 17440070 ATF6,DUSP12,OLFML2B chr11 61732716 61737984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FTH1 chr11 61732716 61737984 Gain and loss Pancreatic cancer SNP array 17952125 FTH1 chr11 61732716 61737984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FTH1 chr1 161745898 161746007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF6 chr1 161760604 161760664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF6 chr11 61766300 61768855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61766300 61768855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 61766300 61768855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6177030 6177992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6177030 6177992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6177030 6177992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61775508 61775581 Gain Normal 244K array 17666407 NOT_FOUND chr1 1617766 1662451 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr1 1617766 1677498 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr1 1617766 1677535 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr1 1617766 1677906 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr1 1617766 1682181 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr1 1617766 1683178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B chr1 1617766 1685649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B chr1 1617778 1631963 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CDK11B,MMP23A,SLC35E2B chr11 61779416 61833883 Loss Normal 244K array 17666407 NOT_FOUND chr11 61794206 61797204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61794206 61797204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 61794206 61797204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61806951 61807095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 61812969 61816902 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr1 161819145 161819245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF6 chr11 61820330 61823112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61820330 61823112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 61820330 61823112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 161821006 161821069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF6 chr1 161830675 162183933 Copy number gain Normal High-resolution SNP genotyping 21211785 ATF6,MIR4654,NOS1AP,OLFML2B chr11 61832967 61833067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 6183374 6188935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6183374 6188935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6183374 6188935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61840484 62345935 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 AHNAK,ASRGL1,EEF1G,INCENP,MIR3654,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,TUT1 chr11 61841648 61841789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 61861350 61917454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INCENP chr11 61861496 61917458 Gain and loss Pancreatic cancer SNP array 17952125 INCENP chr1 1618674 1662451 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B chr1 161870840 161894850 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATF6 chr1 16187264 16187523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr1 161884323 161884420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF6 chr1 16188501 16194000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPEN chr1 16188953 16193833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr11 6189141 6212517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR52B2 chr11 6189141 6212517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR52B2 chr11 6189153 6212451 Gain and loss Pancreatic cancer SNP array 17952125 OR52B2 chr1 161902763 162057610 Gain and loss Pancreatic cancer SNP array 17952125 ATF6,NOS1AP,OLFML2B chr1 1 6190511 Deletion Normal Arbitrated Peel-off 21527027 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KCNAB2,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr1 161911318 161911497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF6 chr1 161922240 161922340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF6 chr11 61939232 61939926 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 16194001 16211500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPEN chr1 161941823 161941915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 61943099 61947242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61943099 61947242 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 61943099 61947242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61957183 62687295 LOH Normal High-resolution SNP genotyping 21211785 AHNAK,ASRGL1,B3GAT3,BSCL2,C11orf48,C11orf83,CHRM1,EEF1G,EML3,GANAB,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,INTS5,LRRN4CL,METTL12,MIR3654,MTA2,NXF1,POLR2G,ROM1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,TAF6L,TMEM179B,TMEM223,TTC9C,TUT1,UBXN1,WDR74,ZBTB3 chr11 61957590 62070847 Gain and loss Pancreatic cancer SNP array 17952125 SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2 chr11 61957592 62070908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2 chr11 61957592 62070908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2 chr1 16196139 16227870 Gain and loss Pancreatic cancer SNP array 17952125 SPEN chr11 61971383 62929026 LOH Normal High-resolution SNP genotyping 21211785 AHNAK,ASRGL1,B3GAT3,BSCL2,C11orf48,C11orf83,CHRM1,EEF1G,EML3,GANAB,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,INTS5,LRRN4CL,METTL12,MIR3654,MTA2,NXF1,POLR2G,ROM1,SCGB1A1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SLC22A24,SLC22A6,SLC22A8,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,TAF6L,TMEM179B,TMEM223,TTC9C,TUT1,UBXN1,WDR74,ZBTB3 chr11 61981827 62026830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB1D2 chr11 61992739 61992833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 61992739 61992833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 61995758 62545592 LOH Normal High-resolution SNP genotyping 21211785 AHNAK,ASRGL1,B3GAT3,BSCL2,C11orf48,C11orf83,EEF1G,EML3,GANAB,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,INTS5,LRRN4CL,METTL12,MIR3654,MTA2,POLR2G,ROM1,SCGB1A1,SCGB1D2,SCGB1D4,SCGB2A2,SNORA57,TAF6L,TTC9C,TUT1,UBXN1,ZBTB3 chr1 16200000 20400000 Copy number Neuroblastoma 550K SNP array 19536264 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBXO42,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2A,PLA2G2E,PLA2G5,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,ZBTB17 chr1 16200000 20400000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBXO42,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2A,PLA2G2E,PLA2G5,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,ZBTB17 chr1 16200000 20400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ARHGEF19,ATP13A2,C1orf151-NBL1,C1orf64,CAPZB,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,EMC1,EPHA2,ESPNP,FAM131C,FBXO42,HSPB7,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2A,PLA2G2E,PLA2G5,PQLC2,RCC2,RNF186,RSG1,SDHB,SPATA21,SPEN,SZRD1,TAS1R2,TMCO4,UBR4,ZBTB17 chr1 16200000 23900000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ASAP3,ATP13A2,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf213,C1orf64,CAMK2N1,CAPZB,CDA,CDC42,CELA3A,CELA3B,CLCNKA,CLCNKB,CROCC,CROCCP2,CROCCP3,DDOST,E2F2,ECE1,EIF4G3,EMC1,EPHA2,EPHA8,EPHB2,ESPNP,FAM131C,FAM43B,FBXO42,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IGSF21,KDM1A,KIF17,KLHDC7A,LDLRAD2,LINC00339,LOC100506730,LOC100506801,LOC339505,LOC729059,LUZP1,MFAP2,MINOS1,MIR3115,MIR3675,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,NBL1,NBPF1,NBPF3,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PQLC2,RAP1GAP,RCC2,RNF186,RSG1,SDHB,SH2D5,SPATA21,SPEN,SZRD1,TAS1R2,TCEA3,TMCO4,UBR4,UBXN10,USP48,VWA5B1,WNT4,ZBTB17,ZBTB40,ZNF436 chr1 16200000 28000000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ACTL8,AHDC1,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,C1orf64,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLCNKA,CLCNKB,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,CROCCP3,DDOST,DHDDS,E2F2,ECE1,EIF4G3,EMC1,EPHA2,EPHA8,EPHB2,ESPNP,EXTL1,FAM110D,FAM131C,FAM43B,FAM46B,FAM54B,FBXO42,FCN3,FGR,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PQLC2,RAP1GAP,RCAN3,RCAN3AS,RCC2,RHCE,RHD,RNF186,RPL11,RPS6KA1,RSG1,RUNX3,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SPATA21,SPEN,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,SZRD1,TAS1R2,TCEA3,TCEB3,TMCO4,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBR4,UBXN10,UBXN11,USP48,VWA5B1,WASF2,WDTC1,WNT4,ZBTB17,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 16200000 28000000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ACTL8,AHDC1,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,C1orf64,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLCNKA,CLCNKB,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,CROCCP3,DDOST,DHDDS,E2F2,ECE1,EIF4G3,EMC1,EPHA2,EPHA8,EPHB2,ESPNP,EXTL1,FAM110D,FAM131C,FAM43B,FAM46B,FAM54B,FBXO42,FCN3,FGR,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PQLC2,RAP1GAP,RCAN3,RCAN3AS,RCC2,RHCE,RHD,RNF186,RPL11,RPS6KA1,RSG1,RUNX3,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SPATA21,SPEN,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,SZRD1,TAS1R2,TCEA3,TCEB3,TMCO4,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBR4,UBXN10,UBXN11,USP48,VWA5B1,WASF2,WDTC1,WNT4,ZBTB17,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr11 62000242 62034168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB1D2 chr1 162002000 162187421 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4654,NOS1AP chr11 62004930 62005030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 162005200 162005552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16203318 16207889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr1 16203318 16207889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr1 162033527 162033627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 62040792 62057723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 162045033 162045133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOS1AP chr11 62050731 62050831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 62053644 62095503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB1D4 chr1 162079268 162079368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOS1AP chr11 62083649 62097927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 62083651 62106622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62083651 62106622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62098756 62115592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62098756 62115592 Gain and loss Pancreatic cancer SNP array 17952125 ASRGL1 chr11 62098756 62115592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr1 162102014 162145976 Gain and loss Pancreatic cancer SNP array 17952125 MIR4654,NOS1AP chr1 16211501 16261500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPEN chr11 62117251 62125879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62117251 62125879 Gain and loss Pancreatic cancer SNP array 17952125 ASRGL1 chr11 62117251 62125879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62126267 62135645 Gain and loss Pancreatic cancer SNP array 17952125 ASRGL1 chr11 62126267 62136813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62126267 62136813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 6212700 6222283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR52W1 chr11 6212700 6222283 Gain and loss Pancreatic cancer SNP array 17952125 OR52W1 chr11 6212700 6222283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR52W1 chr1 162128523 162128573 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOS1AP chr1 16213114 16218551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr1 16213114 16218551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr1 162134025 162134125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOS1AP chr11 62137199 62139162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62137199 62139162 Gain and loss Pancreatic cancer SNP array 17952125 ASRGL1 chr11 62137199 62139162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62139345 62146024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62139345 62146024 Gain and loss Pancreatic cancer SNP array 17952125 ASRGL1 chr11 62139345 62146024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62148873 62170680 Gain and loss Pancreatic cancer SNP array 17952125 ASRGL1 chr11 62148876 62170680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr11 62148876 62170680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASRGL1 chr1 162158877 162158977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOS1AP chr1 162159531 162159733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOS1AP chr11 62170897 62177350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62170897 62177350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 62170897 62177350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62182235 62204014 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK,SCGB1A1 chr11 62186863 62195817 Gain and loss Pancreatic cancer SNP array 17952125 SCGB1A1 chr11 62186866 62195817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCGB1A1 chr11 62189355 62191499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCGB1A1 chr11 62189470 62189618 Gain and loss Pancreatic cancer SNP array 17952125 SCGB1A1 chr11 62189470 62189618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCGB1A1 chr11 62189623 62189710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCGB1A1 chr11 62195702 62196424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62200549 62203103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62200549 62203103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62200549 62203138 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr1 16220953 16233132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr1 16220953 16233132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr11 62210452 62213776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62210452 62213776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62210456 62213776 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr11 62214322 62233584 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 AHNAK chr11 62214322 62251397 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 AHNAK chr11 62214323 62233562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62214323 62233562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62214323 62251432 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr1 162214780 162249481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOS1AP chr1 162217597 162217687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOS1AP chr11 62231026 62276288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK chr11 62231706 62233251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62231706 62233251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62231706 62233253 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr11 62238798 62251397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62238798 62251397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62241807 62278190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62241807 62278190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr1 162244902 162264856 Gain and loss Pancreatic cancer SNP array 17952125 NOS1AP chr11 62252160 62262681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62252160 62262681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62252160 62262683 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr11 62268753 62269560 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AHNAK chr1 162273828 162291036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOS1AP chr11 62275010 62278190 Gain or loss Breast cancer - 20668451 AHNAK chr11 62275010 62278190 Gain or loss Cancer - 20668451 AHNAK chr11 62275010 62278190 Gain or loss Lung cancer - 20668451 AHNAK chr11 62275010 62278190 Gain or loss Ovarian cancer - 20668451 AHNAK chr11 62275010 62278190 Gain or loss Pancreas cancer - 20668451 AHNAK chr11 62275010 62278190 Gain or loss Prostate cancer - 20668451 AHNAK chr11 62276138 62278110 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr1 162282476 162283373 Gain and loss Pancreatic cancer SNP array 17952125 NOS1AP chr11 62285591 62290757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62285591 62290757 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr11 62285591 62290757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr1 162291387 164150074 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf110,C1orf111,C1orf226,DDR2,HSD17B7,MIR556,NOS1AP,NUF2,RGS4,RGS5,SH2D1B,UAP1,UHMK1 chr11 62295451 62311390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62295451 62311390 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr11 62295451 62311390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr1 162297808 162297880 Gain and loss Pancreatic cancer SNP array 17952125 NOS1AP chr11 62310559 62311059 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr11 62311416 63473557 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-697K arrays 21546498 AHNAK,ATL3,B3GAT3,BSCL2,C11orf48,C11orf83,CHRM1,EEF1G,EML3,GANAB,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,HRASLS2,HRASLS5,INTS5,LGALS12,LRRN4CL,METTL12,MIR3654,MIR3680-1,MIR3680-2,MTA2,NXF1,PLA2G16,POLR2G,RARRES3,ROM1,RTN3,SLC22A10,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC3A2,SNHG1,SNORA57,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,TAF6L,TMEM179B,TMEM223,TTC9C,TUT1,UBXN1,WDR74,ZBTB3 chr11 62311450 62314447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62311450 62314447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK chr11 62311475 62314293 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK chr11 62314501 62316056 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 62314503 62316056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62314503 62316056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62316173 62329540 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 EEF1G,MIR3654 chr11 62316174 62329540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEF1G,MIR3654 chr11 62316174 62329540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF1G,MIR3654 chr11 62316220 62329529 Gain and loss Pancreatic cancer SNP array 17952125 EEF1G,MIR3654 chr11 62330945 62356136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEF1G,TUT1 chr11 62330945 62356136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF1G,TUT1 chr11 62330946 62356136 Gain and loss Pancreatic cancer SNP array 17952125 EEF1G,TUT1 chr1 162332108 162356511 Gain and loss Pancreatic cancer SNP array 17952125 C1orf111,C1orf226,NOS1AP chr11 62340014 62340115 Gain and loss Pancreatic cancer SNP array 17952125 EEF1G chr11 62340014 62340115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF1G chr1 16234260 16239111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr11 62356960 62363709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTA2,TUT1 chr11 62356960 62363709 Gain and loss Pancreatic cancer SNP array 17952125 MTA2,TUT1 chr11 62356960 62363709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA2,TUT1 chr1 162363111 162399758 Gain and loss Pancreatic cancer SNP array 17952125 SH2D1B chr1 162363482 162363582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 162363666 162363697 Gain Normal 244K array 17666407 NOT_FOUND chr1 16236527 16252003 Gain Normal Birdsuite, version 1.5.2 22087296 SPEN chr11 62365667 62365857 Gain and loss Pancreatic cancer SNP array 17952125 MTA2 chr11 62365667 62365857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA2 chr11 62365670 62365857 Gain and loss Pancreatic cancer SNP array 17952125 MTA2 chr11 62367915 62368015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTA2 chr11 6237541 6249932 Copy number Lung cancer - 20668451 FAM160A2 chr11 6237541 6249932 Gain or loss Breast cancer - 20668451 FAM160A2 chr11 6237541 6249932 Gain or loss Cancer - 20668451 FAM160A2 chr11 6237541 6249932 Gain or loss Lung cancer - 20668451 FAM160A2 chr11 6237541 6249932 Gain or loss Ovarian cancer - 20668451 FAM160A2 chr11 6237541 6249932 Gain or loss Pancreas cancer - 20668451 FAM160A2 chr11 6237541 6249932 Gain or loss Prostate cancer - 20668451 FAM160A2 chr11 6237542 6249932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM160A2 chr11 6237542 6249932 Gain and loss Pancreatic cancer SNP array 17952125 FAM160A2 chr11 6237542 6249932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM160A2 chr11 62376958 62377083 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62376958 62377083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML3 chr11 62377373 62377443 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62377373 62377443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML3 chr11 62377374 62377441 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62377711 62377780 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62377711 62377780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML3 chr11 62377952 62378016 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62377952 62378016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML3 chr11 62378669 62378743 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62378669 62378743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML3 chr11 62379059 62379131 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62379060 62379131 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62379060 62379131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML3 chr11 62379340 62379414 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62379340 62379414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML3 chr11 62379612 62379680 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62379612 62379680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML3 chr11 62379613 62379679 Gain and loss Pancreatic cancer SNP array 17952125 EML3 chr11 62380093 62412929 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 B3GAT3,EML3,GANAB,ROM1 chr11 62380094 62412928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GAT3,EML3,GANAB,ROM1 chr11 62380094 62412928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GAT3,EML3,GANAB,ROM1 chr11 62380192 62412900 Gain and loss Pancreatic cancer SNP array 17952125 B3GAT3,EML3,GANAB,ROM1 chr1 162380567 162380981 Loss Normal 244K array 17666407 SH2D1B chr1 162380567 162382105 Loss Normal 244K array 17666407 SH2D1B chr11 62390730 62390922 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 62390730 62390922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6239680 6284402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCKBR,CNGA4,FAM160A2 chr1 162399645 162410855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 62402051 62402141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GANAB chr1 1624029 1645637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK11A,CDK11B,MMP23A,SLC35E2B chr1 1624029 1645637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK11A,CDK11B,MMP23A,SLC35E2B chr1 16240418 16259257 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SPEN chr1 16240418 16259257 Copy number gain Normal High-resolution SNP genotyping 21211785 SPEN chr1 16242834 16256390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr1 16242834 16256390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPEN chr1 162428342 162469752 Gain and loss Pancreatic cancer SNP array 17952125 UHMK1 chr11 62432726 62445588 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C11orf48,C11orf83,METTL12,SNORA57,UBXN1 chr11 62432728 62445588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf48,C11orf83,METTL12,SNORA57,UBXN1 chr11 62432728 62445588 Gain and loss Pancreatic cancer SNP array 17952125 C11orf48,C11orf83,METTL12,SNORA57,UBXN1 chr11 62432728 62445588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf48,C11orf83,METTL12,SNORA57,UBXN1 chr11 62460030 62460277 Gain and loss Pancreatic cancer SNP array 17952125 BSCL2,HNRNPUL2-BSCL2 chr11 62460030 62460277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BSCL2,HNRNPUL2-BSCL2 chr1 16249104 16258844 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 SPEN chr11 62500645 62509045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC9C chr11 62500645 62509045 Gain and loss Pancreatic cancer SNP array 17952125 TTC9C chr11 62500645 62509045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC9C chr11 62516873 62539887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLR2G,TAF6L,ZBTB3 chr11 62516873 62539887 Gain and loss Pancreatic cancer SNP array 17952125 POLR2G,TAF6L,ZBTB3 chr11 62516873 62539887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR2G,TAF6L,ZBTB3 chr1 162520248 162520713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 162528548 162608993 Gain and loss Pancreatic cancer SNP array 17952125 DDR2,UAP1 chr1 1 62550928 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AADACL3,AADACL4,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INADL,INPP5B,IPO13,IPP,IQCC,ISG15,JUN,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRP8,LRRC38,LRRC41,LRRC42,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSBP3,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TXLNA,TXNDC12,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP24,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr11 62557724 62669857 Loss Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 NXF1,SLC3A2,SNHG1,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,TMEM179B,TMEM223,WDR74 chr1 16256852 16272714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPEN,ZBTB17 chr1 16256852 16272714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPEN,ZBTB17 chr11 62571083 62572130 Gain and loss Pancreatic cancer SNP array 17952125 NXF1 chr11 62573391 62573491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 162578866 162579726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 625826 625945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 162587134 162587249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 162592622 162593225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16261501 16436000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7,SPEN,ZBTB17 chr11 62629807 62629842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC3A2 chr11 62642573 62667827 Gain and loss Pancreatic cancer SNP array 17952125 SLC3A2 chr11 62642573 62668269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC3A2 chr11 62642573 62668269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC3A2 chr11 62648809 62648858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC3A2 chr1 162685253 162685353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDR2 chr11 62687872 62753700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRM1,SLC22A6 chr11 62687872 62753700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRM1,SLC22A6 chr11 62688284 62688505 Loss Normal 244K array 17666407 CHRM1 chr11 62691976 62753700 Gain and loss Pancreatic cancer SNP array 17952125 SLC22A6 chr1 16269905 16284410 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB17 chr11 62721841 62721892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 162723110 162723898 Gain and loss Pancreatic cancer SNP array 17952125 DDR2 chr11 627305 630703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 627305 630703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 162738139 162738213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDR2 chr1 162741285 162741385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDR2 chr1 162743139 162743245 Gain and loss Pancreatic cancer SNP array 17952125 DDR2 chr1 162746103 162779785 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDR2,HSD17B7 chr11 62750278 134452384 Loss Wilms tumour 250K Genotyping Arrays 21544195 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GAT1,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BIRC2,BIRC3,BLID,BRMS1,BSX,BTG4,BUD13,C11orf1,C11orf20,C11orf24,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CLCF1,CLDN25,CLMP,CLNS1A,CLPB,CNIH2,CNTN5,CORO1B,COX8A,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DYNC2H1,EED,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GDPD4,GDPD5,GLB1L2,GLB1L3,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INPPL1,INTS4,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MEN1,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR139,MIR192,MIR194-2,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MSANTD2,MSANTD4,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT22,NUDT8,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRKRIR,PRSS23,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,SAC3D1,SART1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SCYL1,SDHD,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,SUV420H1,SYT12,SYTL2,SYVN1,TAF1D,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM8B,TIRAP,TM7SF2,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM134,TMEM135,TMEM136,TMEM151A,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS26B,VPS51,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,ZBTB16,ZBTB44,ZC3H12C,ZDHHC24,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZW10 chr11 6275289 6275389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 162759730 162760125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 162771136 163573518 Gain and loss Pancreatic cancer SNP array 17952125 C1orf110,HSD17B7,NUF2,RGS4,RGS5 chr1 16278455 16278525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB17 chr1 162795560 163082934 Gain or loss Breast cancer - 20668451 C1orf110,RGS4 chr1 162795560 163082934 Gain or loss Cancer - 20668451 C1orf110,RGS4 chr1 162795560 163082934 Gain or loss Lung cancer - 20668451 C1orf110,RGS4 chr1 162795560 163082934 Gain or loss Ovarian cancer - 20668451 C1orf110,RGS4 chr1 162795560 163082934 Gain or loss Pancreas cancer - 20668451 C1orf110,RGS4 chr1 162795560 163082934 Gain or loss Prostate cancer - 20668451 C1orf110,RGS4 chr1 162795684 163082933 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf110,RGS4 chr1 162795684 163082933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf110,RGS4 chr1 162795684 163082933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf110,RGS4 chr11 62801363 62801500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 62814214 62835813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62814214 62835813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62814214 63581365 Gain and loss Pancreatic cancer SNP array 17952125 ATL3,C11orf84,C11orf95,HRASLS2,HRASLS5,LGALS12,MIR3680-1,MIR3680-2,PLA2G16,RARRES3,RTN3,SLC22A10,SLC22A24,SLC22A25,SLC22A9 chr11 62820501 63029000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3680-1,MIR3680-2,SLC22A24,SLC22A25 chr1 162861897 162918320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 162875426 162875532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62893837 62934286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC22A24,SLC22A25 chr11 62893837 62934286 Gain and loss Pancreatic cancer SNP array 17952125 SLC22A24,SLC22A25 chr11 62893837 62934286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC22A24,SLC22A25 chr1 162895660 162895760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 162907213 162922296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 162909059 162909141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 162910039 162922835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 16293114 16327552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZBTB17 chr11 62936696 62949999 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC22A25 chr1 162938887 162939175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 62950698 62970249 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC22A25 chr11 62953136 62974535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC22A25 chr11 6296752 6298316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6296752 6298316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6296752 6298316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 162976640 162978498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 62985464 63015215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A25 chr11 62985464 63015215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A25 chr11 62987386 63015242 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2,SLC22A25 chr11 62996078 62996178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC22A25 chr1 1 6300000 Copy number Rubinstein-Taybi syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr1 1 6300000 Copy number Schizophrenia - 22118685 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DVL1,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73 chr11 63010230 63010330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 63011420 63011484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 163022183 163022265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 63030132 63040815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2 chr11 63030132 63040815 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2 chr11 63030132 63040815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2 chr11 63031284 63604668 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATL3,C11orf84,C11orf95,HRASLS2,HRASLS5,LGALS12,MIR3680-1,MIR3680-2,PLA2G16,RARRES3,RTN3,SLC22A10,SLC22A9 chr1 16303502 16308752 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 163040908 163041008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS4 chr11 630510 710883 Copy number gain Normal High-resolution SNP genotyping 21211785 DEAF1,DRD4,EPS8L2,TMEM80 chr11 63060849 63070505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A10 chr11 63060849 63070505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A10 chr11 63060856 63070505 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2,SLC22A10 chr1 163074828 163102541 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 163074828 163105376 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 63076818 63087431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A10 chr11 63076818 63087431 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2,SLC22A10 chr11 63076818 63087431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A10 chr1 163078778 163105376 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 63079884 63113698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR3680-1,MIR3680-2 chr11 63080331 63087437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR3680-1,MIR3680-2 chr11 63082288 63114007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR3680-1,MIR3680-2 chr1 163083580 163104503 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 163088663 163088852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 163088857 163089072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 163090092 163090193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163093033 163093118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 63098825 63138417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A9 chr11 63098825 63138417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A9 chr11 63098825 63138471 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2,SLC22A9 chr11 63100000 130300000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 AASDHPPT,ABCG4,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS8,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BIRC2,BIRC3,BLID,BRMS1,BSX,BTG4,BUD13,C11orf1,C11orf20,C11orf24,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CLCF1,CLDN25,CLMP,CLNS1A,CLPB,CNIH2,CNTN5,CORO1B,COX8A,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DYNC2H1,EED,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,ENDOD1,ESAM,ESRRA,ETS1,EXPH5,FADD,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FERMT3,FEZ1,FGF19,FGF3,FGF4,FIBP,FKBP2,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HRASLS2,HRASLS5,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IL10RA,IL18,IL18BP,INPPL1,INTS4,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LGALS12,LINC00167,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MEN1,MFRP,MIR100,MIR100HG,MIR1237,MIR125B1,MIR1260B,MIR1304,MIR139,MIR192,MIR194-2,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3680-1,MIR3680-2,MIR3920,MIR4300,MIR4301,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MSANTD2,MSANTD4,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NUDT22,NUDT8,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRDX5,PRKRIR,PRSS23,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPS6KA4,RPS6KB2,RPUSD4,RSF1,RTN3,SAC3D1,SART1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SCYL1,SDHD,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SNX15,SNX32,SORL1,SPA17,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSSCA1,ST14,ST3GAL4,STARD10,STIP1,STT3A,SUV420H1,SYT12,SYTL2,SYVN1,TAF1D,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TECTA,TEX12,THRSP,THY1,TIGD3,TIMM8B,TIRAP,TM7SF2,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM134,TMEM135,TMEM136,TMEM151A,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS51,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,ZBTB16,ZBTB44,ZC3H12C,ZDHHC24,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZW10 chr11 63100000 67100000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTN3,ADRBK1,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CFL1,CNIH2,COX8A,CST6,CTSF,CTSW,DNAJC4,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL3ST3,GPHA2,GPR137,HRASLS2,HRASLS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL11,MRPL49,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PLA2G16,PLCB3,POLA2,PPP1R14B,PPP2R5B,PRDX5,PYGM,RAB1B,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RPS6KA4,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,SYT12,SYVN1,TIGD3,TM7SF2,TMEM151A,TRMT112,TRPT1,TSGA10IP,VEGFB,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 67100000 Copy number Breast cancer SMRT array 16417655 ACTN3,ADRBK1,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CFL1,CNIH2,COX8A,CST6,CTSF,CTSW,DNAJC4,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL3ST3,GPHA2,GPR137,HRASLS2,HRASLS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL11,MRPL49,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PLA2G16,PLCB3,POLA2,PPP1R14B,PPP2R5B,PRDX5,PYGM,RAB1B,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RPS6KA4,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,SYT12,SYVN1,TIGD3,TM7SF2,TMEM151A,TRMT112,TRPT1,TSGA10IP,VEGFB,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 67100000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ACTN3,ADRBK1,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CFL1,CNIH2,COX8A,CST6,CTSF,CTSW,DNAJC4,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL3ST3,GPHA2,GPR137,HRASLS2,HRASLS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL11,MRPL49,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PLA2G16,PLCB3,POLA2,PPP1R14B,PPP2R5B,PRDX5,PYGM,RAB1B,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RPS6KA4,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,SYT12,SYVN1,TIGD3,TM7SF2,TMEM151A,TRMT112,TRPT1,TSGA10IP,VEGFB,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 67100000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 ACTN3,ADRBK1,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CFL1,CNIH2,COX8A,CST6,CTSF,CTSW,DNAJC4,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL3ST3,GPHA2,GPR137,HRASLS2,HRASLS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL11,MRPL49,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PLA2G16,PLCB3,POLA2,PPP1R14B,PPP2R5B,PRDX5,PYGM,RAB1B,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RPS6KA4,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,SYT12,SYVN1,TIGD3,TM7SF2,TMEM151A,TRMT112,TRPT1,TSGA10IP,VEGFB,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 67100000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 ACTN3,ADRBK1,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CFL1,CNIH2,COX8A,CST6,CTSF,CTSW,DNAJC4,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL3ST3,GPHA2,GPR137,HRASLS2,HRASLS5,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL11,MRPL49,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PLA2G16,PLCB3,POLA2,PPP1R14B,PPP2R5B,PRDX5,PYGM,RAB1B,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RPS6KA4,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,SYT12,SYVN1,TIGD3,TM7SF2,TMEM151A,TRMT112,TRPT1,TSGA10IP,VEGFB,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 69200000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHKA,CLCF1,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM86C2P,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL,GAL3ST3,GPHA2,GPR137,GPR152,GSTP1,HRASLS2,HRASLS5,IGHMBP2,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LRP5,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR548AR,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NDUFS8,NDUFV1,NEAT1,NPAS4,NRXN2,NUDT22,NUDT8,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PITPNM1,PLA2G16,PLCB3,POLA2,POLD4,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PTPRCAP,PYGM,RAB1B,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPCN2,TRMT112,TRPT1,TSGA10IP,UNC93B1,VEGFB,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 69200000 Gain Breast cancer aCGH 21045282 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHKA,CLCF1,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM86C2P,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL,GAL3ST3,GPHA2,GPR137,GPR152,GSTP1,HRASLS2,HRASLS5,IGHMBP2,KAT5,KCNK4,KCNK7,KDM2A,KLC2,LGALS12,LOC100130348,LOC100130987,LOC100996455,LOC254100,LRFN4,LRP5,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR548AR,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NDUFS8,NDUFV1,NEAT1,NPAS4,NRXN2,NUDT22,NUDT8,OTUB1,OVOL1,PACS1,PC,PCNXL3,PELI3,PITPNM1,PLA2G16,PLCB3,POLA2,POLD4,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PTPRCAP,PYGM,RAB1B,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPCN2,TRMT112,TRPT1,TSGA10IP,UNC93B1,VEGFB,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 74900000 Copy number Breast cancer - 21806811 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GPHA2,GPR137,GPR152,GSTP1,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LRFN4,LRP5,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPCN2,TRMT112,TRPT1,TSGA10IP,UCP2,UCP3,UNC93B1,VEGFB,VPS51,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 74900000 Gain Glioblastoma multiforme aCGH 21080181 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GPHA2,GPR137,GPR152,GSTP1,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LRFN4,LRP5,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPCN2,TRMT112,TRPT1,TSGA10IP,UCP2,UCP3,UNC93B1,VEGFB,VPS51,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Amplification Ductal carcinoma Array CGH 18381933 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Amplification Esophageal squamous carcinoma CGH 21637470 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Copy number Breast cancer fast real-time PCR 20953835 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Copy number Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Deletion Asthma References 21956041 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Deletion oto-dental syndrome Affymetrix GeneChip10K 2.0 Array 17656375 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Gain Non-small cell lung cancer In situ minichips 20864512 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63100000 76700000 Loss Hepatocellular carcinoma Array CGH 16750200 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC22A9,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63125571 63127447 Loss Normal 244K array 17666407 MIR3680-1,MIR3680-2 chr11 63133853 63144499 Gain Normal 244K array 17666407 MIR3680-1,MIR3680-2,SLC22A9 chr11 63137501 63138500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3680-1,MIR3680-2,SLC22A9 chr11 63138501 63195000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3680-1,MIR3680-2,SLC22A9 chr11 63139727 63164938 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2,SLC22A9 chr11 63149723 63150105 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2,SLC22A9 chr11 63149723 63150105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A9 chr11 63153013 63195763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A9 chr11 63153013 63195763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2,SLC22A9 chr11 63153013 63196020 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2,SLC22A9 chr1 163157178 163157490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS5 chr11 63167792 63185074 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR3680-1,MIR3680-2,SLC22A9 chr11 63195001 63196000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3680-1,MIR3680-2 chr11 63196001 63198000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3680-1,MIR3680-2 chr1 1631963 1637190 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CDK11A,CDK11B,MMP23A chr11 63201501 63284500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HRASLS5,LGALS12,MIR3680-1,MIR3680-2 chr11 63205498 63283913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HRASLS5,LGALS12,MIR3680-1,MIR3680-2 chr11 63205498 63283913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HRASLS5,LGALS12,MIR3680-1,MIR3680-2 chr11 63205498 63283933 Gain and loss Pancreatic cancer SNP array 17952125 HRASLS5,LGALS12,MIR3680-1,MIR3680-2 chr1 16321469 16362361 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf64,CLCNKA,HSPB7 chr1 163215892 163215998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS5 chr1 16321866 16424254 Gain and loss Pancreatic cancer SNP array 17952125 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 chr1 163219763 163219853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS5 chr1 163223537 163382643 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NUF2,RGS5 chr1 16323418 16355151 Gain or loss Breast cancer - 20668451 C1orf64,CLCNKA,HSPB7 chr1 16323418 16355151 Gain or loss Cancer - 20668451 C1orf64,CLCNKA,HSPB7 chr1 16323418 16355151 Gain or loss Lung cancer - 20668451 C1orf64,CLCNKA,HSPB7 chr1 16323418 16355151 Gain or loss Ovarian cancer - 20668451 C1orf64,CLCNKA,HSPB7 chr1 16323418 16355151 Gain or loss Pancreas cancer - 20668451 C1orf64,CLCNKA,HSPB7 chr1 16323418 16355151 Gain or loss Prostate cancer - 20668451 C1orf64,CLCNKA,HSPB7 chr1 16323420 16355151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf64,CLCNKA,HSPB7 chr1 16323420 16355151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf64,CLCNKA,HSPB7 chr1 16323989 16324021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 63240000 79390000 Gain Breast cancer aCGH 21509527 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ANAPC15,ANKRD13D,ANO1,AP5B1,AQP11,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf67,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLNS1A,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAB2,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,HRASLS2,HRASLS5,IGHMBP2,IL18BP,INPPL1,INTS4,KAT5,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LGALS12,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR3680-1,MIR3680-2,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR5579,MIR612,MIR708,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,ODZ4,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RARRES3,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,THRSP,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr1 163281490 163281547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGS5 chr1 163282990 163955316 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NUF2,RGS5 chr11 63284501 63294500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3680-1,MIR3680-2 chr11 63287171 63287925 Gain Normal 244K array 17666407 MIR3680-1,MIR3680-2 chr11 63287538 63289120 Gain and loss Pancreatic cancer SNP array 17952125 MIR3680-1,MIR3680-2 chr11 63287888 63290008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3680-1,MIR3680-2 chr1 163305652 163326129 Gain and loss Pancreatic cancer SNP array 17952125 NUF2 chr1 163314187 163314445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUF2 chr1 163314473 163314573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUF2 chr11 63321142 66212707 Gain Anaplastic thyroid cancer 33K microarrays 18753363 AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,B3GNT1,BAD,BANF1,BATF2,BRMS1,C11orf20,C11orf68,C11orf84,C11orf85,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC88B,CD248,CDC42BPG,CDC42EP2,CDCA5,CFL1,CNIH2,COX8A,CST6,CTSW,DNAJC4,DPF2,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL3ST3,GPHA2,GPR137,HRASLS2,KAT5,KCNK4,KCNK7,KLC2,LOC100130348,LOC100996455,LOC254100,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL11,MRPL49,MUS81,NAA40,NAALADL1,NEAT1,NPAS4,NRXN2,NUDT22,OTUB1,OVOL1,PACS1,PCNXL3,PLA2G16,PLCB3,POLA2,PPP1R14B,PPP2R5B,PRDX5,PYGM,RAB1B,RASGRP2,RCOR2,RELA,RIN1,RNASEH2C,RPS6KA4,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SSSCA1,STIP1,SYVN1,TIGD3,TM7SF2,TMEM151A,TRMT112,TRPT1,TSGA10IP,VEGFB,VPS51,YIF1A,ZFPL1,ZNHIT2 chr11 63337001 63338500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 63337436 63351727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLA2G16 chr11 63337436 63351727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G16 chr11 63337499 63351762 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G16 chr11 63337776 63342661 Gain Normal 244K array 17666407 PLA2G16 chr11 63358501 63387500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLA2G16 chr11 63358627 63358945 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G16 chr11 63363052 93087588 Gain Prostate cancer Array CGH 18632612 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ANAPC15,ANKRD13D,ANKRD42,ANO1,AP5B1,AQP11,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf67,C11orf68,C11orf73,C11orf80,C11orf82,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC67,CCDC81,CCDC83,CCDC85B,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CLCF1,CLNS1A,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CREBZF,CST6,CTSC,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DLG2,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EED,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM181B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FZD4,GAB2,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GRM5,GRM5-AS1,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,INTS4,KAT5,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100506233,LOC100506368,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,ME3,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4300,MIR4489,MIR4490,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR612,MIR708,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NOX4,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,ODZ4,OMP,OR2AT4,OR7E2P,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCF11,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PICALM,PITPNM1,PLA2G16,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRCP,PRDX5,PRKRIR,PRSS23,PTPRCAP,PYGM,RAB1B,RAB30,RAB38,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLC36A4,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYTL2,SYVN1,TBC1D10C,TBX10,TCIRG1,THRSP,TIGD3,TM7SF2,TMEM126A,TMEM126B,TMEM134,TMEM135,TMEM151A,TPBGL,TPCN2,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPT1,TSGA10IP,TSKU,TYR,UBTFL1,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63363467 63433621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATL3,PLA2G16 chr11 63363467 63433621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATL3,PLA2G16 chr11 63363470 63433629 Gain or loss Breast cancer - 20668451 ATL3,PLA2G16 chr11 63363470 63433629 Gain or loss Cancer - 20668451 ATL3,PLA2G16 chr11 63363470 63433629 Gain or loss Lung cancer - 20668451 ATL3,PLA2G16 chr11 63363470 63433629 Gain or loss Ovarian cancer - 20668451 ATL3,PLA2G16 chr11 63363470 63433629 Gain or loss Pancreas cancer - 20668451 ATL3,PLA2G16 chr11 63363470 63433629 Gain or loss Prostate cancer - 20668451 ATL3,PLA2G16 chr11 63363584 63433621 Gain and loss Pancreatic cancer SNP array 17952125 ATL3,PLA2G16 chr1 163374613 163379847 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 63400000 121200000 Amplification Esophageal squamous carcinoma CGH 18350619 AASDHPPT,ABCG4,ACAT1,ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,ATM,ATP5L,B3GNT1,B3GNT6,BACE1,BACE1-AS,BAD,BANF1,BATF2,BBS1,BCL9L,BCO2,BIRC2,BIRC3,BRMS1,BTG4,BUD13,C11orf1,C11orf20,C11orf24,C11orf30,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf84,C11orf85,C11orf86,C11orf87,C11orf88,C11orf92,C11orf93,C11orf95,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CEP164,CEP57,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CLCF1,CLDN25,CLNS1A,CLPB,CNIH2,CNTN5,CORO1B,COX8A,CPT1A,CREBZF,CRYAB,CST6,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DNAJC4,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DYNC2H1,EED,EFEMP2,EHBP1L1,EHD1,EIF1AD,ELMOD1,ENDOD1,ESRRA,EXPH5,FADD,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FRMD8,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GPR83,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPHL1,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IGHMBP2,IL10RA,IL18,IL18BP,INPPL1,INTS4,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283214,LOC643037,LOC643733,LOC643923,LOC649133,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MARK2,MCAM,ME3,MED17,MEN1,MFRP,MIR1237,MIR1260B,MIR1304,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3920,MIR4300,MIR4301,MIR4489,MIR4490,MIR4491,MIR4492,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR612,MIR708,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MSANTD4,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRXN2,NUDT22,NUDT8,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR2AT4,OR7E2P,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDX5,PRKRIR,PRSS23,PTPRCAP,PTS,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RCOR2,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,RPL23AP64,RPS25,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,SAC3D1,SART1,SC5DL,SCARNA9,SCN2B,SCN4B,SCYL1,SDHD,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIDT2,SIK2,SIK3,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SRSF8,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYTL2,SYVN1,TAF1D,TAGLN,TBC1D10C,TBCEL,TBX10,TCIRG1,TECTA,TEX12,THRSP,THY1,TIGD3,TIMM8B,TM7SF2,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM134,TMEM135,TMEM136,TMEM151A,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPC6,TRPT1,TSGA10IP,TSKU,TTC12,TTC36,TYR,UBE4A,UBTFL1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VEGFB,VPS11,VPS51,VSTM5,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,ZBTB16,ZC3H12C,ZDHHC24,ZFPL1,ZNF259,ZNHIT2,ZW10 chr11 63400000 65900000 Gain Prostate cancer FISH 18779856 AP5B1,ARL2,ARL2-SNX15,ATG2A,ATL3,BAD,BANF1,BATF2,C11orf20,C11orf68,C11orf84,C11orf85,C11orf95,CAPN1,CATSPER1,CCDC85B,CCDC88B,CDC42BPG,CDC42EP2,CDCA5,CFL1,COX8A,CST6,CTSW,DNAJC4,DPF2,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FAM89B,FAU,FERMT3,FIBP,FKBP2,FLRT1,FOSL1,FRMD8,GAL3ST3,GPHA2,GPR137,KAT5,KCNK4,KCNK7,LOC100130348,LOC100996455,LOC254100,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL49,MUS81,NAA40,NAALADL1,NEAT1,NRXN2,NUDT22,OTUB1,OVOL1,PACS1,PCNXL3,PLCB3,POLA2,PPP1R14B,PPP2R5B,PRDX5,PYGM,RASGRP2,RCOR2,RELA,RNASEH2C,RPS6KA4,RTN3,SAC3D1,SART1,SCYL1,SF1,SF3B2,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SNX15,SNX32,SPDYC,SSSCA1,STIP1,SYVN1,TIGD3,TM7SF2,TRMT112,TRPT1,TSGA10IP,VEGFB,VPS51,ZFPL1,ZNHIT2 chr11 63400000 77100000 Amplification Breast cancer BAC-arrays 17001317 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Amplification Colorectal cancer FISH 16882699 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Amplification Oral squamous cell carcinoma ABI 7700 Sequence Detection Instrument 16619035 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number Berardinelli-seip congenital generalized lipodystrophy References 17668395 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number Cancer PCR Assay 17916600 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number Multiple endocrine neoplasia type 1 References 19566914 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number Neonatal seizures - 17668395 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number Neonatal seizures References 17668391 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number Neuroticism SNP array 17667963 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number Spinal muscular atrophy References 17668395 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number Squamous cell cancer Real-time PCR 19047905 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Copy number XY sex reversal FISH 17503084 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Deletion Hepatocellular carcinoma Array CGH 16750200 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Gain Breast cancer BAC-arrays 17001317 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Gain Esophageal adenocarcinoma MLPA 18820669 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Missense Berardinelli-seip congenital generalized lipodystrophy References 17668391 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 77100000 Missense mutation Maculopathy - 17646752 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK4,KCNK7,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS3,RPS6KA4,RPS6KB2,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 85600000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ANAPC15,ANKRD13D,ANKRD42,ANO1,AP5B1,AQP11,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf67,C11orf68,C11orf80,C11orf82,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC83,CCDC85B,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLNS1A,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CREBZF,CST6,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DLG2,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM181B,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAB2,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,INTS4,KAT5,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100506233,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4300,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR5579,MIR612,MIR708,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,MYO7A,NAA40,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,ODZ4,OMP,OR2AT4,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCF11,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRCP,PRDX5,PRKRIR,PTPRCAP,PYGM,RAB1B,RAB30,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYTL2,SYVN1,TBC1D10C,TBX10,TCIRG1,THRSP,TIGD3,TM7SF2,TMEM126A,TMEM126B,TMEM134,TMEM151A,TPBGL,TPCN2,TRMT112,TRPT1,TSGA10IP,TSKU,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63400000 92800000 Amplification Breast cancer Scanning and OncoBAC array CGH, Affymetrix U133A arrays 17157792 ACER3,ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ANAPC15,ANKRD13D,ANKRD42,ANO1,AP5B1,AQP11,ARAP1,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATL3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf30,C11orf67,C11orf68,C11orf73,C11orf80,C11orf82,C11orf84,C11orf85,C11orf86,C11orf95,C2CD3,CABP2,CABP4,CAPN1,CAPN5,CARNS1,CATSPER1,CCDC81,CCDC83,CCDC85B,CCDC87,CCDC88B,CCDC89,CCDC90B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHORDC1,CHRDL2,CLCF1,CLNS1A,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CREBZF,CST6,CTSC,CTSF,CTSW,CTTN,DEFB108B,DGAT2,DHCR7,DLG2,DNAJB13,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EED,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM168A,FAM181B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLH1B,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FZD4,GAB2,GAL,GAL3ST3,GDPD4,GDPD5,GPHA2,GPR137,GPR152,GRM5,GRM5-AS1,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,INTS4,KAT5,KCNE3,KCNK4,KCNK7,KCTD14,KCTD21,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100506233,LOC100506368,LOC100996455,LOC254100,LOC283214,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MAP6,MARK2,ME3,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR326,MIR3664,MIR4300,MIR4489,MIR4490,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR612,MIR708,MOGAT2,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MTNR1B,MUS81,MYEOV,MYO7A,NAA40,NAALAD2,NAALADL1,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NOX4,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,ODZ4,OMP,OR2AT4,OR7E2P,ORAOV1,OTUB1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAK1,PC,PCF11,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PICALM,PITPNM1,PLCB3,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRCP,PRDX5,PRKRIR,PRSS23,PTPRCAP,PYGM,RAB1B,RAB30,RAB38,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNU6-83,RPS3,RPS6KA4,RPS6KB2,RSF1,RTN3,SAC3D1,SART1,SCYL1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYTL2,SYVN1,TBC1D10C,TBX10,TCIRG1,THRSP,TIGD3,TM7SF2,TMEM126A,TMEM126B,TMEM134,TMEM135,TMEM151A,TPBGL,TPCN2,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRMT112,TRPT1,TSGA10IP,TSKU,TYR,UBTFL1,UCP2,UCP3,UNC93B1,USP35,UVRAG,VEGFB,VPS51,WNT11,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63403749 63403849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATL3 chr11 63406635 63406727 Gain and loss Pancreatic cancer SNP array 17952125 ATL3 chr11 63406635 63406733 Gain and loss Pancreatic cancer SNP array 17952125 ATL3 chr11 63406635 63406733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATL3 chr11 63418343 63418411 Gain and loss Pancreatic cancer SNP array 17952125 ATL3 chr11 63418343 63418411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATL3 chr11 634225 685740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEAF1,DRD4 chr11 634225 685740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEAF1,DRD4 chr1 163429085 163429149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 163432534 163614111 Gain and loss Barrett's syndrome BAC array 19417022 NOT_FOUND chr11 63435277 63440892 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ATL3 chr11 63435280 63440892 Gain and loss Pancreatic cancer SNP array 17952125 ATL3 chr11 63435303 63440892 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATL3 chr11 63435303 63440892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATL3 chr1 163437729 163592576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163437729 163592576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163448412 163449056 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63455485 63458229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RTN3 chr11 63463007 63481365 Gain and loss Pancreatic cancer SNP array 17952125 RTN3 chr11 63463017 63481022 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RTN3 chr11 63463039 63481020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN3 chr11 63463039 63481020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN3 chr1 16348004 16387073 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CLCNKA,CLCNKB,FAM131C chr11 63494518 63494624 Gain and loss Pancreatic cancer SNP array 17952125 RTN3 chr11 63494518 63494624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN3 chr11 63498655 63500590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN3 chr11 63498655 63500590 Gain and loss Pancreatic cancer SNP array 17952125 RTN3 chr11 63498655 63500590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN3 chr1 163504518 163504618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 63509900 63522468 Gain or loss Breast cancer - 20668451 RTN3 chr11 63509900 63522468 Gain or loss Cancer - 20668451 RTN3 chr11 63509900 63522468 Gain or loss Lung cancer - 20668451 RTN3 chr11 63509900 63522468 Gain or loss Ovarian cancer - 20668451 RTN3 chr11 63509900 63522468 Gain or loss Pancreas cancer - 20668451 RTN3 chr11 63509900 63522468 Gain or loss Prostate cancer - 20668451 RTN3 chr11 63509901 63522468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN3 chr11 63509901 63522468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN3 chr11 63510461 63522463 Gain and loss Pancreatic cancer SNP array 17952125 RTN3 chr11 63522607 63690109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf84,C11orf95,MARK2,RCOR2,RTN3 chr11 63522607 63690109 Gain and loss Pancreatic cancer SNP array 17952125 C11orf84,C11orf95,MARK2,RCOR2,RTN3 chr11 63522607 63690109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf84,C11orf95,MARK2,RCOR2,RTN3 chr1 16353203 16360133 Gain Normal BAC array 16365383 CLCNKA chr1 163540382 163557239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63542504 63543418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 63546759 64547786 LOH Normal High-resolution SNP genotyping 21211785 BAD,C11orf20,C11orf84,CCDC88B,COX8A,DNAJC4,ESRRA,FERMT3,FKBP2,FLRT1,GPR137,KCNK4,LOC100996455,MACROD1,MARK2,MIR1237,NAA40,NRXN2,NUDT22,OTUB1,PLCB3,PPP1R14B,PRDX5,PYGM,RASGRP2,RCOR2,RPS6KA4,SF1,SLC22A11,SLC22A12,STIP1,TRMT112,TRPT1,VEGFB chr11 6355307 6397220 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63555422 64127497 LOH Normal High-resolution SNP genotyping 21211785 BAD,C11orf20,C11orf84,CCDC88B,COX8A,DNAJC4,ESRRA,FERMT3,FKBP2,FLRT1,GPR137,KCNK4,MACROD1,MARK2,NAA40,NUDT22,OTUB1,PLCB3,PPP1R14B,PRDX5,RCOR2,RPS6KA4,STIP1,TRMT112,TRPT1,VEGFB chr1 163557411 163577137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63560139 72573784 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARL2,ARL2-SNX15,ATG16L2,ATG2A,B3GNT1,BAD,BANF1,BATF2,BBS1,BRMS1,C11orf20,C11orf24,C11orf68,C11orf80,C11orf84,C11orf85,C11orf86,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCDC88B,CCND1,CCS,CD248,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHKA,CLCF1,CLPB,CNIH2,CORO1B,COX8A,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DHCR7,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EHD1,EIF1AD,ESRRA,FADD,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FERMT3,FGF19,FGF3,FGF4,FIBP,FKBP2,FLJ42102,FLRT1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GPHA2,GPR137,GPR152,GSTP1,IGHMBP2,IL18BP,INPPL1,KAT5,KCNK4,KCNK7,KDM2A,KLC2,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100996455,LOC254100,LRFN4,LRP5,LRTOMT,LTBP3,MACROD1,MALAT1,MAP3K11,MAP4K2,MARK2,MEN1,MIR1237,MIR139,MIR192,MIR194-2,MIR3165,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR548AR,MIR548K,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL49,MTL5,MUS81,MYEOV,NAA40,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NPAS4,NRXN2,NUDT22,NUDT8,NUMA1,ORAOV1,OTUB1,OVOL1,PACS1,PC,PCNXL3,PDE2A,PELI3,PHOX2A,PITPNM1,PLCB3,POLA2,POLD4,PPFIA1,PPP1CA,PPP1R14B,PPP2R5B,PPP6R3,PRDX5,PTPRCAP,PYGM,RAB1B,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCOR2,RELA,RHOD,RIN1,RNASEH2C,RNF121,RPS6KA4,RPS6KB2,SAC3D1,SART1,SCYL1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,STIP1,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPCN2,TRMT112,TRPT1,TSGA10IP,UNC93B1,VEGFB,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr11 63569027 63603532 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf84 chr1 163578789 163578889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 6358057 6358157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 163583794 163583878 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 6360165 6397220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6360165 6397220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 63604668 64806044 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARL2,ARL2-SNX15,ATG2A,BAD,BATF2,C11orf20,C11orf85,CCDC88B,CDC42BPG,COX8A,DNAJC4,EHD1,ESRRA,FERMT3,FKBP2,FLRT1,GPHA2,GPR137,KCNK4,LOC100996455,MACROD1,MAP4K2,MARK2,MEN1,MIR1237,MIR192,MIR194-2,NAA40,NRXN2,NUDT22,OTUB1,PLCB3,PPP1R14B,PPP2R5B,PRDX5,PYGM,RASGRP2,RCOR2,RPS6KA4,SF1,SLC22A11,SLC22A12,SNX15,STIP1,TRMT112,TRPT1,VEGFB chr1 163619654 163676219 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63625423 63669705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MARK2 chr11 63627817 63643221 Gain and loss Pancreatic cancer SNP array 17952125 MARK2 chr11 63627938 63643221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARK2 chr11 63627938 63643221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARK2 chr1 163636975 163681054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163636975 163681054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163651245 163681557 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr11 6368231 6372801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6368231 6372801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6368309 6372801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 163690174 163723105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63697703 63697736 Loss Normal 244K array 17666407 NOT_FOUND chr11 63703200 63703275 Loss Normal 244K array 17666407 NOT_FOUND chr1 163706854 163706972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 163706854 163706974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63709320 63728591 Gain and loss Pancreatic cancer SNP array 17952125 NAA40 chr11 63709873 63728596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAA40 chr11 63709873 63728596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAA40 chr1 1637190 1659016 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CDK11A,CDK11B,SLC35E2 chr11 63730782 63747930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COX8A chr11 63730782 63747930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX8A chr11 63730782 63747939 Gain and loss Pancreatic cancer SNP array 17952125 COX8A chr1 163733585 163734209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 63734670 63735320 Gain Normal 244K array 17666407 NOT_FOUND chr1 163742331 163742429 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63747848 63750257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 63747848 63750257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 63747878 63750277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63750338 63754063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OTUB1 chr11 63750338 63754063 Gain and loss Pancreatic cancer SNP array 17952125 OTUB1 chr11 63750338 63754063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUB1 chr1 163753740 163791526 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63754054 63754904 Gain and loss Pancreatic cancer SNP array 17952125 OTUB1 chr11 63754054 63754904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUB1 chr1 163754173 163754269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 63754326 63758326 Gain and loss Pancreatic cancer SNP array 17952125 OTUB1 chr11 63754609 63758326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUB1 chr11 63757130 63757826 Loss Normal 244K array 17666407 OTUB1 chr11 63758842 63762834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OTUB1 chr11 63758842 63762834 Gain and loss Pancreatic cancer SNP array 17952125 OTUB1 chr11 63758842 63762834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUB1 chr11 63764988 63768262 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MACROD1,OTUB1 chr11 63764989 63768262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD1,OTUB1 chr11 63764989 63768262 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1,OTUB1 chr11 63764989 63768262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1,OTUB1 chr11 63768526 63770989 Gain or loss Breast cancer - 20668451 MACROD1 chr11 63768526 63770989 Gain or loss Cancer - 20668451 MACROD1 chr11 63768526 63770989 Gain or loss Lung cancer - 20668451 MACROD1 chr11 63768526 63770989 Gain or loss Ovarian cancer - 20668451 MACROD1 chr11 63768526 63770989 Gain or loss Pancreas cancer - 20668451 MACROD1 chr11 63768526 63770989 Gain or loss Prostate cancer - 20668451 MACROD1 chr11 63768529 63770989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63768529 63770989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63768533 63770841 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr1 163771873 163771905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 63775618 63791970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63775623 63791970 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr1 163779868 163799822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163779868 163799822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 637807 638016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DRD4 chr11 637883 638070 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DRD4 chr11 63792108 63792192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD1 chr11 63793877 63808740 Gain or loss Breast cancer - 20668451 MACROD1 chr11 63793877 63808740 Gain or loss Cancer - 20668451 MACROD1 chr11 63793877 63808740 Gain or loss Lung cancer - 20668451 MACROD1 chr11 63793877 63808740 Gain or loss Ovarian cancer - 20668451 MACROD1 chr11 63793877 63808740 Gain or loss Pancreas cancer - 20668451 MACROD1 chr11 63793877 63808740 Gain or loss Prostate cancer - 20668451 MACROD1 chr11 63793878 63808740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63793878 63808740 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr11 63793878 63808740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr1 163800000 165500000 Gain Hepatocellular carcinoma CGH 22174799 LMX1A,LOC100505795,LOC400794,PBX1,RXRG chr11 63805827 63805927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD1 chr11 63808383 63832837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACROD1 chr11 63809907 63813539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63809907 63813539 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr11 63809907 63813539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr1 1 63811651 Gain Chordoma Array CGH 21602918 AADACL3,AADACL4,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL3,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DOCK7,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INADL,INPP5B,IPO13,IPP,IQCC,ISG15,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00115,LINC00339,LINC00466,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRP8,LRRC38,LRRC41,LRRC42,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSBP3,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TXLNA,TXNDC12,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP1,USP24,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr11 63815369 63824078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63815369 63824078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63815770 63828817 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr1 163817474 163818332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163818315 163826878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63820085 63820184 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr11 63820085 63820186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63823592 63824496 Loss Autism 1M Ailent CGH whole-genome array 21865298 MACROD1 chr11 63824439 63828814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr1 163827431 163830024 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63828023 63845858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63828023 63845858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63829620 63840786 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr11 63829620 63840791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63829620 63840791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr1 163830484 163861846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 163832774 163832846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 63840743 63841609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63840743 63841609 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr11 63840743 63841609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr11 63842145 63845858 Gain and loss Pancreatic cancer SNP array 17952125 MACROD1 chr11 63849512 63881144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLRT1,MACROD1 chr11 63850893 63883813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLRT1,MACROD1 chr11 63859645 63859745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD1 chr1 163863318 163863741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 63864271 63881581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLRT1,MACROD1 chr11 63864271 63881581 Gain and loss Pancreatic cancer SNP array 17952125 FLRT1,MACROD1 chr11 63864271 63881581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLRT1,MACROD1 chr11 63865892 63865971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD1 chr1 163867074 163897357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163867074 163897357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6387449 6387643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 63883200 63896263 Gain or loss Breast cancer - 20668451 FLRT1,MACROD1 chr11 63883200 63896263 Gain or loss Cancer - 20668451 FLRT1,MACROD1 chr11 63883200 63896263 Gain or loss Lung cancer - 20668451 FLRT1,MACROD1 chr11 63883200 63896263 Gain or loss Ovarian cancer - 20668451 FLRT1,MACROD1 chr11 63883200 63896263 Gain or loss Pancreas cancer - 20668451 FLRT1,MACROD1 chr11 63883200 63896263 Gain or loss Prostate cancer - 20668451 FLRT1,MACROD1 chr11 63883201 63896262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLRT1,MACROD1 chr11 63883201 63896262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLRT1,MACROD1 chr11 63883219 63896262 Gain and loss Pancreatic cancer SNP array 17952125 FLRT1,MACROD1 chr11 63892650 63892751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD1 chr1 163895419 163912449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 163895744 163898018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 163896464 163925024 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 163897572 163908568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 163898073 163934524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163898073 163934524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163898446 163898548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163899207 163912786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 63904701 63904754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD1 chr1 163907117 163907586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163912171 163912639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163914246 163914346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 163917764 163917864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 163921801 164116982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 163934611 163945821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16394009 16394081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM131C chr11 63958504 64310154 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BAD,C11orf20,CCDC88B,DNAJC4,ESRRA,FERMT3,FKBP2,GPR137,KCNK4,LOC100996455,MIR1237,NUDT22,PLCB3,PPP1R14B,PRDX5,RPS6KA4,STIP1,TRMT112,TRPT1,VEGFB chr11 63958504 64310154 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BAD,C11orf20,CCDC88B,DNAJC4,ESRRA,FERMT3,FKBP2,GPR137,KCNK4,LOC100996455,MIR1237,NUDT22,PLCB3,PPP1R14B,PRDX5,RPS6KA4,STIP1,TRMT112,TRPT1,VEGFB chr1 163960151 164004759 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 163963167 164004750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 163963167 164004750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16397186 16411691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM131C chr1 16397186 16411691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM131C chr11 63973120 63975702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FERMT3 chr11 63973120 63975702 Gain and loss Pancreatic cancer SNP array 17952125 FERMT3 chr11 63973120 63975702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FERMT3 chr11 63980000 65650000 Loss Acute lymphoblastic leukemia - 21339820 AP5B1,ARL2,ARL2-SNX15,ATG2A,BAD,BATF2,C11orf20,C11orf85,CAPN1,CCDC88B,CDC42BPG,CDC42EP2,CDCA5,CFL1,CTSW,DNAJC4,DPF2,EFEMP2,EHBP1L1,EHD1,ESRRA,FAM89B,FAU,FERMT3,FKBP2,FRMD8,GPHA2,GPR137,KAT5,KCNK4,KCNK7,LOC100130348,LOC100996455,LOC254100,LTBP3,MALAT1,MAP3K11,MAP4K2,MEN1,MIR1237,MIR192,MIR194-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL49,MUS81,NAALADL1,NEAT1,NRXN2,NUDT22,OVOL1,PCNXL3,PLCB3,POLA2,PPP1R14B,PPP2R5B,PRDX5,PYGM,RASGRP2,RELA,RNASEH2C,RPS6KA4,SAC3D1,SCYL1,SF1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SNX15,SNX32,SPDYC,SSSCA1,SYVN1,TIGD3,TM7SF2,TRMT112,TRPT1,VEGFB,VPS51,ZFPL1,ZNHIT2 chr11 63996515 63996615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUDT22 chr1 163997834 163998113 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 163997834 163998113 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 164004079 164031652 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 64009893 64009951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FKBP2 chr11 64025016 64025075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB3 chr11 64035845 64035945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB3 chr11 64055092 64057018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR137 chr1 164055214 164055648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64055252 64055324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR137 chr1 164063514 164143959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 164063514 164143959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64077217 64077217 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ESRRA chr11 64079666 64095575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESRRA,PRDX5,TRMT112 chr11 64079666 64095575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRA,PRDX5,TRMT112 chr11 64079674 64095572 Gain and loss Pancreatic cancer SNP array 17952125 ESRRA,PRDX5,TRMT112 chr1 164087617 165720863 LOH Normal High-resolution SNP genotyping 21211785 ALDH9A1,LMX1A,LOC100505795,LOC400794,LOC440700,LRRC52,MGST3,PBX1,RXRG,TMCO1 chr11 6408858 6418830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APBB1,SMPD1 chr11 6408858 6418830 Gain and loss Pancreatic cancer SNP array 17952125 APBB1,SMPD1 chr11 6408858 6418830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APBB1,SMPD1 chr11 64096762 64903729 LOH Normal High-resolution SNP genotyping 21211785 ARL2,ARL2-SNX15,ATG2A,BATF2,C11orf85,CCDC88B,CDC42BPG,CDCA5,EHD1,FAU,GPHA2,LOC100130348,LOC100996455,MAP4K2,MEN1,MIR1237,MIR192,MIR194-2,MRPL49,NAALADL1,NRXN2,PPP2R5B,PYGM,RASGRP2,RPS6KA4,SAC3D1,SF1,SLC22A11,SLC22A12,SNX15,SYVN1,TM7SF2,VPS51,ZFPL1,ZNHIT2 chr1 164099958 164243756 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr11 64114689 64126396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC88B chr11 64114689 64126396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88B chr11 64114858 64126396 Gain and loss Pancreatic cancer SNP array 17952125 CCDC88B chr1 164119761 164153535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 64119766 64119856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC88B chr11 64120501 64147000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC88B,MIR1237,RPS6KA4 chr11 64130221 64247236 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LOC100996455,MIR1237,RPS6KA4 chr11 64130222 64247236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100996455,MIR1237,RPS6KA4 chr11 64130222 64247236 Gain and loss Pancreatic cancer SNP array 17952125 LOC100996455,MIR1237,RPS6KA4 chr11 64130222 64247236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100996455,MIR1237,RPS6KA4 chr1 164131543 164219484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64171622 134439182 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACTN3,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,AP5B1,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARL2,ARL2-SNX15,ARRB1,ATG16L2,ATG2A,ATM,ATP5L,B3GAT1,B3GNT1,B3GNT6,BACE1,BACE1-AS,BANF1,BARX2,BATF2,BBS1,BCL9L,BCO2,BIRC2,BIRC3,BLID,BRMS1,BSX,BTG4,BUD13,C11orf1,C11orf24,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf68,C11orf70,C11orf71,C11orf73,C11orf75,C11orf80,C11orf82,C11orf85,C11orf86,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CATSPER1,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC85B,CCDC87,CCDC89,CCDC90B,CCND1,CCS,CD248,CD3D,CD3E,CD3G,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CDON,CEP164,CEP57,CFL1,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CLCF1,CLDN25,CLMP,CLNS1A,CLPB,CNIH2,CNTN5,CORO1B,CPT1A,CREBZF,CRTAM,CRYAB,CST6,CTSC,CTSF,CTSW,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DOC2GP,DPAGT1,DPF2,DPP3,DRAP1,DRD2,DSCAML1,DYNC2H1,EED,EFEMP2,EHBP1L1,EHD1,EI24,EIF1AD,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FADD,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAM89B,FAT3,FAU,FCHSD2,FDX1,FDXACB1,FEZ1,FGF19,FGF3,FGF4,FIBP,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOSL1,FOXR1,FOXRED1,FRMD8,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GAL3ST3,GDPD4,GDPD5,GLB1L2,GLB1L3,GPHA2,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INPPL1,INTS4,JAM3,JRKL,JRKL-AS1,KAT5,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCNK7,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LINC00167,LIPT2,LOC100128239,LOC100129216,LOC100130348,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC100996455,LOC101054525,LOC254100,LOC283143,LOC283174,LOC283177,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRFN4,LRP5,LRRC32,LRTOMT,LTBP3,MALAT1,MAML2,MAP3K11,MAP4K2,MAP6,MCAM,ME3,MED17,MEN1,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR139,MIR192,MIR194-2,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3920,MIR4300,MIR4301,MIR4489,MIR4490,MIR4491,MIR4492,MIR4493,MIR4690,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548AR,MIR548K,MIR5579,MIR5692A1,MIR612,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MSANTD2,MSANTD4,MTL5,MTMR2,MTNR1B,MUS81,MYEOV,MYO7A,NAALAD2,NAALADL1,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEAT1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAS4,NPAT,NRGN,NRXN2,NTM,NUDT8,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PC,PCF11,PCNXL3,PCSK7,PDE2A,PDGFD,PDZD3,PELI3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLEKHB1,POLA2,POLD3,POLD4,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP2R1B,PPP2R5B,PPP6R3,PRCP,PRDM10,PRKRIR,PRSS23,PTPRCAP,PTS,PUS3,PVRL1,PYGM,RAB1B,RAB30,RAB38,RAB39A,RAB6A,RAD9A,RASGRP2,RBM14,RBM14-RBM4,RBM4,RBM4B,RBM7,RCE1,RDX,RELA,RELT,REXO2,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPS6KB2,RPUSD4,RSF1,SAC3D1,SART1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SCYL1,SDHD,SERPINH1,SESN3,SF1,SF3B2,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SLC29A2,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SNX15,SNX19,SNX32,SORL1,SPA17,SPATA19,SPCS2,SPDYC,SPTBN2,SRPR,SRSF8,SSH3,SSSCA1,ST14,ST3GAL4,STARD10,STT3A,SUV420H1,SYT12,SYTL2,SYVN1,TAF1D,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIGD3,TIMM8B,TIRAP,TM7SF2,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM134,TMEM135,TMEM136,TMEM151A,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSGA10IP,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VPS11,VPS26B,VPS51,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,YIF1A,ZBTB16,ZBTB44,ZC3H12C,ZDHHC24,ZFPL1,ZNF202,ZNF259,ZNHIT2,ZW10 chr11 64182968 64183006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 164196326 164196401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 164220440 164221481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64233584 64259449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 64235001 64292500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 164241915 164254662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64250959 64269504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64250959 64269504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64250959 64269504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 164258076 164258888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6426423 6451781 Gain and loss Pancreatic cancer SNP array 17952125 APBB1 chr11 6426423 6451790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APBB1 chr11 6426423 6451790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APBB1 chr11 64268965 65470124 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 ARL2,ARL2-SNX15,ATG2A,BATF2,C11orf85,CAPN1,CDC42BPG,CDC42EP2,CDCA5,DPF2,EHBP1L1,EHD1,FAM89B,FAU,FRMD8,GPHA2,KCNK7,LOC100130348,LOC254100,LTBP3,MALAT1,MAP3K11,MAP4K2,MEN1,MIR192,MIR194-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL49,NAALADL1,NEAT1,NRXN2,PCNXL3,POLA2,PPP2R5B,PYGM,RASGRP2,RELA,SAC3D1,SCYL1,SF1,SIPA1,SLC22A11,SLC22A12,SLC22A20,SLC25A45,SNX15,SPDYC,SSSCA1,SYVN1,TIGD3,TM7SF2,VPS51,ZFPL1,ZNHIT2 chr11 64270437 64284763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64270437 64284763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64270606 64284763 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16427757 16428681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 164278105 164278211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 164280329 164280411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 64288654 64302817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64288654 64302817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64288654 64302817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64292501 64301500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 164294696 164295091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 164305880 164402830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 164305880 164402830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16430782 16436178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16430782 16436178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64312001 64335500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC22A11 chr11 64313185 64327289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC22A11 chr11 64313185 64327289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC22A11 chr11 64313186 64327289 Gain and loss Pancreatic cancer SNP array 17952125 SLC22A11 chr11 64326322 64326612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC22A11 chr11 64327564 64335342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC22A11 chr11 64327564 64335342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC22A11 chr11 64327569 64335342 Copy number Lung cancer - 20668451 SLC22A11 chr11 64327569 64335342 Gain or loss Breast cancer - 20668451 SLC22A11 chr11 64327569 64335342 Gain or loss Cancer - 20668451 SLC22A11 chr11 64327569 64335342 Gain or loss Lung cancer - 20668451 SLC22A11 chr11 64327569 64335342 Gain or loss Ovarian cancer - 20668451 SLC22A11 chr11 64327569 64335342 Gain or loss Pancreas cancer - 20668451 SLC22A11 chr11 64327569 64335342 Gain or loss Prostate cancer - 20668451 SLC22A11 chr11 64327572 64335342 Gain and loss Pancreatic cancer SNP array 17952125 SLC22A11 chr1 164330988 164407143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 164343119 164343181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 64346355 64353548 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 64348240 64368617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC22A12 chr11 64348240 64368617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC22A12 chr11 64348497 64368617 Gain and loss Pancreatic cancer SNP array 17952125 SLC22A12 chr11 64349001 64451500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NRXN2,SLC22A12 chr1 16436001 16445000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 64364155 64364233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC22A12 chr11 64376779 64403725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64376779 64403725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64376784 64403725 Gain and loss Pancreatic cancer SNP array 17952125 NRXN2 chr11 6437788 6519318 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 APBB1,ARFIP2,DNHD1,FXC1,HPX,TRIM3 chr11 64379905 64380000 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRXN2 chr11 64384207 64384357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN2 chr1 164384534 165045378 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100505795,PBX1 chr11 64388971 64416212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRXN2 chr1 16439026 16468161 Gain and loss Pancreatic cancer SNP array 17952125 EPHA2 chr1 164390604 164390659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64401392 64401465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN2 chr1 16440295 16440480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64405583 64405993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64407564 64407634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN2 chr1 16440951 16441331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64413874 64414334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64415185 64415294 Gain and loss Pancreatic cancer SNP array 17952125 NRXN2 chr11 64415185 64415294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64415403 64415487 Gain and loss Pancreatic cancer SNP array 17952125 NRXN2 chr11 64415403 64415487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64418350 64418450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN2 chr11 64418595 64441239 Gain and loss Pancreatic cancer SNP array 17952125 NRXN2 chr11 64418595 64441298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64418595 64441298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr1 164422866 164491716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 164433428 164494925 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 64448755 64458523 Gain or loss Breast cancer - 20668451 NRXN2 chr11 64448755 64458523 Gain or loss Cancer - 20668451 NRXN2 chr11 64448755 64458523 Gain or loss Lung cancer - 20668451 NRXN2 chr11 64448755 64458523 Gain or loss Ovarian cancer - 20668451 NRXN2 chr11 64448755 64458523 Gain or loss Pancreas cancer - 20668451 NRXN2 chr11 64448755 64458523 Gain or loss Prostate cancer - 20668451 NRXN2 chr11 64448756 64458523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64448756 64458523 Gain and loss Pancreatic cancer SNP array 17952125 NRXN2 chr11 64448756 64458523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr1 164451105 164460994 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 64455703 64455791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN2 chr11 64458521 64459936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64458521 64459936 Gain and loss Pancreatic cancer SNP array 17952125 NRXN2 chr11 64458521 64459936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2 chr11 64462279 64496133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRXN2,RASGRP2 chr11 64462279 64496133 Gain and loss Pancreatic cancer SNP array 17952125 NRXN2,RASGRP2 chr11 64462279 64496133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN2,RASGRP2 chr1 16449147 16551535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF19,EPHA2 chr1 16449147 16551535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF19,EPHA2 chr11 64492846 64492936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 64499646 64514663 Gain Normal 244K array 17666407 PYGM,RASGRP2 chr1 16450000 16950000 Duplication renal disease Array CGH, FISH 17924346 ARHGEF19,CROCCP2,CROCCP3,EPHA2,FBXO42,MIR3675,NBPF1,NECAP2,RSG1,SPATA21,SZRD1 chr1 16450831 16482564 Copy number Glioblastoma multiforme Array-CGH 17090523 EPHA2 chr1 164510541 164614998 Gain and loss Pancreatic cancer SNP array 17952125 PBX1 chr1 164511653 164513452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64511992 64521093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PYGM,RASGRP2 chr11 64511992 64521093 Gain and loss Pancreatic cancer SNP array 17952125 PYGM,RASGRP2 chr11 64511992 64521093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PYGM,RASGRP2 chr11 6451569 6451669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 164526741 164921882 Loss Normal 244K array 17666407 LOC100505795,PBX1 chr11 6453504 6459171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPX chr11 6453504 6459171 Gain and loss Pancreatic cancer SNP array 17952125 HPX chr11 6453504 6459171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPX chr11 64538161 64546232 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SF1 chr11 64538228 64564618 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K2,SF1 chr11 64538229 64546231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SF1 chr11 64538229 64546231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SF1 chr11 64538230 64564618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP4K2,SF1 chr11 64538230 64564618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4K2,SF1 chr1 164539983 164540134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PBX1 chr11 64564951 64568876 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MAP4K2 chr11 64564952 64568875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP4K2 chr11 64564952 64568875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4K2 chr11 64565001 64568875 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K2 chr11 64568873 64582585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP4K2,MEN1 chr11 64568873 64582585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4K2,MEN1 chr11 64569284 64582585 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K2,MEN1 chr1 16458062 16458133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA2 chr11 6459253 6462486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPX chr11 6459253 6462486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPX chr11 6459323 6461127 Gain and loss Pancreatic cancer SNP array 17952125 HPX chr11 64601503 64608100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPG chr11 64601503 64608100 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPG chr11 64601503 64608100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPG chr11 64604558 65456993 LOH Normal High-resolution SNP genotyping 21211785 ARL2,ARL2-SNX15,ATG2A,BATF2,C11orf85,CAPN1,CDC42BPG,CDC42EP2,CDCA5,DPF2,EHBP1L1,EHD1,FAM89B,FAU,FRMD8,GPHA2,KCNK7,LOC100130348,LOC254100,LTBP3,MALAT1,MAP3K11,MIR192,MIR194-2,MIR4489,MIR4690,MIR548AR,MIR612,MRPL49,NAALADL1,NEAT1,PCNXL3,POLA2,PPP2R5B,RELA,SAC3D1,SCYL1,SIPA1,SLC22A20,SLC25A45,SNX15,SPDYC,SSSCA1,SYVN1,TIGD3,TM7SF2,VPS51,ZFPL1,ZNHIT2 chr11 64608173 64610423 Loss Autism 1M Ailent CGH whole-genome array 21865298 CDC42BPG chr11 64608270 64612450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPG chr11 64608270 64612450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPG chr11 64608283 64612442 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPG chr11 64612277 64612810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64612436 64613079 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1646137 1667291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK11A,CDK11B,SLC35E2 chr1 1646137 1667291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK11A,CDK11B,SLC35E2 chr1 164618969 164636891 Gain and loss Pancreatic cancer SNP array 17952125 PBX1 chr11 64620259 64635756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHD1 chr11 64620259 64635756 Gain and loss Pancreatic cancer SNP array 17952125 EHD1 chr11 64620259 64635756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHD1 chr1 164621882 165391134 LOH Normal High-resolution SNP genotyping 21211785 LMX1A,LOC100505795,PBX1,RXRG chr1 16462486 16468660 Gain Normal BAC array 16365383 EPHA2 chr11 64635917 64640282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHD1 chr11 64635917 64640282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHD1 chr11 64635932 64640282 Gain and loss Pancreatic cancer SNP array 17952125 EHD1 chr1 164637714 164776726 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505795,PBX1 chr11 64640490 64641701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHD1 chr11 64640490 64641701 Gain and loss Pancreatic cancer SNP array 17952125 EHD1 chr11 64640490 64641701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHD1 chr11 64643419 64643625 Gain and loss Pancreatic cancer SNP array 17952125 EHD1 chr11 64644677 64646236 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 EHD1 chr11 64644679 64646234 Gain and loss Pancreatic cancer SNP array 17952125 EHD1 chr11 64644679 64648237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHD1 chr11 64644679 64648237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHD1 chr11 64646304 64651417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64646304 64651417 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64646304 64651417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64648008 64650464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64651329 64658580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64651349 64658579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64651349 64658579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16465311 16465361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPHA2 chr1 164663204 164663717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PBX1 chr11 64671631 64671825 Gain and loss Pancreatic cancer SNP array 17952125 ATG2A chr11 64671631 64671825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG2A chr11 64671632 64671822 Gain and loss Pancreatic cancer SNP array 17952125 ATG2A chr11 64694283 64697264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5B chr11 64694283 64697264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5B chr1 16470444 16509225 Gain and loss Pancreatic cancer SNP array 17952125 EPHA2 chr11 64705919 64736052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf85 chr11 64705919 64736052 Gain and loss Pancreatic cancer SNP array 17952125 C11orf85 chr11 64705919 64736052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf85 chr1 164710606 164717426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBX1 chr1 164726896 166665275 LOH Normal High-resolution SNP genotyping 21211785 ALDH9A1,FAM78B,FMO9P,LMX1A,LOC100505795,LOC400794,LOC440700,LRRC52,MGST3,MIR3658,MIR921,PBX1,RXRG,TMCO1,UCK2 chr11 64728873 67236717 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,ADRBK1,ANKRD13D,AP5B1,ARL2,ARL2-SNX15,B3GNT1,BANF1,BATF2,BBS1,BRMS1,C11orf68,C11orf80,C11orf86,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCS,CD248,CDC42EP2,CDCA5,CFL1,CLCF1,CNIH2,CORO1B,CST6,CTSF,CTSW,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EIF1AD,FAM89B,FAU,FIBP,FOSL1,FRMD8,GAL3ST3,GPR152,KAT5,KCNK7,KDM2A,KLC2,LOC100130348,LOC100130987,LOC254100,LRFN4,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR548AR,MIR612,MRPL11,MRPL49,MUS81,NAALADL1,NEAT1,NPAS4,OVOL1,PACS1,PC,PCNXL3,PELI3,POLA2,POLD4,PPP1CA,PTPRCAP,RAB1B,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RELA,RHOD,RIN1,RNASEH2C,RPS6KB2,SAC3D1,SART1,SCYL1,SF3B2,SIPA1,SLC22A20,SLC25A45,SLC29A2,SNX15,SNX32,SPDYC,SPTBN2,SSH3,SSSCA1,SYT12,SYVN1,TBC1D10C,TIGD3,TM7SF2,TMEM134,TMEM151A,TSGA10IP,VPS51,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr1 164732024 165766831 LOH Normal High-resolution SNP genotyping 21211785 ALDH9A1,LMX1A,LOC100505795,LOC400794,LOC440700,LRRC52,MGST3,PBX1,RXRG,TMCO1 chr11 64737885 64749743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64737885 65633535 Gain and loss Pancreatic cancer SNP array 17952125 AP5B1,ARL2,ARL2-SNX15,BATF2,CAPN1,CDC42EP2,CDCA5,CFL1,DPF2,EHBP1L1,FAM89B,FAU,FRMD8,KAT5,KCNK7,LOC100130348,LOC254100,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR548AR,MIR612,MRPL49,MUS81,NAALADL1,NEAT1,OVOL1,PCNXL3,POLA2,RELA,RNASEH2C,SAC3D1,SCYL1,SIPA1,SLC22A20,SLC25A45,SNX15,SNX32,SPDYC,SSSCA1,SYVN1,TIGD3,TM7SF2,VPS51,ZFPL1,ZNHIT2 chr11 6475107 6498664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARFIP2,TRIM3 chr11 6475107 6498664 Gain and loss Pancreatic cancer SNP array 17952125 ARFIP2,TRIM3 chr11 6475107 6498664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARFIP2,TRIM3 chr1 164755789 164755889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PBX1 chr1 16475663 16475717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA2 chr1 164756797 164757318 Gain and loss Pancreatic cancer SNP array 17952125 PBX1 chr1 16476275 16476375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA2 chr1 164769075 165441484 LOH Normal High-resolution SNP genotyping 21211785 LMX1A,PBX1,RXRG chr1 164773918 164774012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PBX1 chr1 164780439 164805805 Gain and loss Pancreatic cancer SNP array 17952125 PBX1 chr11 64786006 64821663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL2,ARL2-SNX15,NAALADL1,SAC3D1,SNX15 chr11 64786006 64821663 Gain and loss Pancreatic cancer SNP array 17952125 ARL2,ARL2-SNX15,NAALADL1,SAC3D1,SNX15 chr11 64786006 64821663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL2,ARL2-SNX15,NAALADL1,SAC3D1,SNX15 chr11 64800000 75000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ARL2-SNX15,ARRB1,ATG16L2,B3GNT1,BANF1,BBS1,BRMS1,C11orf24,C11orf68,C11orf80,C11orf86,C2CD3,CABP2,CABP4,CAPN1,CARNS1,CATSPER1,CCDC85B,CCDC87,CCND1,CCS,CD248,CDC42EP2,CDCA5,CDK2AP2,CFL1,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DHCR7,DNAJB13,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EIF1AD,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FAU,FCHSD2,FGF19,FGF3,FGF4,FIBP,FLJ42102,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,GAL,GAL3ST3,GPR152,GSTP1,IGHMBP2,IL18BP,INPPL1,KAT5,KCNE3,KCNK7,KDM2A,KLC2,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC254100,LRFN4,LRP5,LRTOMT,LTBP3,MALAT1,MAP3K11,MIR139,MIR3165,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR4696,MIR548AR,MIR548K,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MRPL49,MTL5,MUS81,MYEOV,NAALADL1,NADSYN1,NDUFS8,NDUFV1,NEAT1,NEU3,NPAS4,NUDT8,NUMA1,OR2AT4,ORAOV1,OVOL1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PCNXL3,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLEKHB1,POLA2,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP6R3,PTPRCAP,RAB1B,RAB6A,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RNF169,RPS6KB2,SAC3D1,SART1,SCYL1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC22A20,SLC25A45,SLC29A2,SLCO2B1,SNX15,SNX32,SPCS2,SPDYC,SPTBN2,SSH3,SSSCA1,STARD10,SUV420H1,SYT12,SYVN1,TBC1D10C,TBX10,TCIRG1,TIGD3,TM7SF2,TMEM134,TMEM151A,TPBGL,TPCN2,TSGA10IP,UCP2,UCP3,UNC93B1,VPS51,XRRA1,YIF1A,ZDHHC24,ZFPL1,ZNHIT2 chr1 164802039 164816566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBX1 chr1 164804201 165360800 Copy number Normal ReadDepth: A Parallel R Package 21305028 LMX1A,PBX1 chr11 64805382 64805482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARL2-SNX15,SNX15 chr1 164810075 167618690 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDH9A1,CD247,CREG1,DUSP27,FAM78B,FMO9P,GPA33,ILDR2,LMX1A,LOC400794,LOC440700,LRRC52,MAEL,MGST3,MIR3658,MIR921,PBX1,POGK,POU2F1,RCSD1,RXRG,TADA1,TMCO1,UCK2 chr1 164812372 164880629 Loss Normal Birdsuite, version 1.5.2 22087296 PBX1 chr11 64812478 64812564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL1 chr11 64814795 64814873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL1 chr1 164816126 164816165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PBX1 chr1 164818202 164819152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PBX1 chr11 6481986 6482086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM3 chr1 164825526 164825626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 164828596 164828696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 164831583 164831683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 64838906 64846476 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CDCA5 chr11 64838907 64846475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDCA5 chr11 64838907 64846475 Gain and loss Pancreatic cancer SNP array 17952125 CDCA5 chr11 64838907 64846475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDCA5 chr1 164840618 164861095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 164840618 164861095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 164841690 164841790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 64857921 64877027 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 VPS51 chr11 64857922 64877027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS51 chr11 64857922 64877027 Gain and loss Pancreatic cancer SNP array 17952125 VPS51 chr11 64857922 64877027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS51 chr11 64878857 64881658 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TM7SF2,VPS51 chr11 64878858 64881654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TM7SF2,VPS51 chr11 64878858 64881654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TM7SF2,VPS51 chr11 64878866 64881523 Gain and loss Pancreatic cancer SNP array 17952125 TM7SF2,VPS51 chr1 164879858 164903004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64893311 64893369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPL49 chr11 64899238 64906718 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SYVN1 chr11 64899239 64906718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYVN1 chr11 64899239 64906718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYVN1 chr11 64899247 64906684 Gain and loss Pancreatic cancer SNP array 17952125 SYVN1 chr1 164901746 164918057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64910617 64937569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64910617 64937569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64910684 64937569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 164926904 164944036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64945040 67031898 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTN3,AP5B1,B3GNT1,BANF1,BBS1,BRMS1,C11orf68,C11orf80,C11orf86,CAPN1,CATSPER1,CCDC85B,CCDC87,CCS,CD248,CDC42EP2,CFL1,CNIH2,CST6,CTSF,CTSW,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EIF1AD,FAM89B,FIBP,FOSL1,FRMD8,GAL3ST3,KAT5,KCNK7,KDM2A,KLC2,LOC254100,LRFN4,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR548AR,MIR612,MRPL11,MUS81,NEAT1,NPAS4,OVOL1,PACS1,PC,PCNXL3,PELI3,POLA2,RAB1B,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RELA,RHOD,RIN1,RNASEH2C,SART1,SCYL1,SF3B2,SIPA1,SLC22A20,SLC25A45,SLC29A2,SNX32,SPTBN2,SSSCA1,SYT12,TIGD3,TMEM151A,TSGA10IP,YIF1A,ZDHHC24 chr1 164947582 164947941 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 164964274 164964377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64968505 64968604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN1 chr1 164970148 164970248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 64970436 64978602 Gain Normal 244K array 17666407 CAPN1 chr11 64979304 64990604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN1,SLC22A20 chr11 64979313 64979630 Gain and loss Pancreatic cancer SNP array 17952125 CAPN1 chr1 164981936 165015320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 64982957 65057147 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 POLA2,SLC22A20 chr1 164983218 164984523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 64992463 65035359 Gain Normal Birdsuite, version 1.5.2 22087296 POLA2,SLC22A20 chr1 164999195 165028628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165020956 165021056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 65026691 65026864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65026791 65027950 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 165032127 165033044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65039338 65039438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLA2 chr11 65044882 65058887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POLA2 chr11 65046301 70131600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANKRD13D,ANO1,AP5B1,B3GNT1,BANF1,BBS1,BRMS1,C11orf24,C11orf68,C11orf80,C11orf86,CABP2,CABP4,CARNS1,CATSPER1,CCDC85B,CCDC87,CCND1,CCS,CD248,CDC42EP2,CDK2AP2,CFL1,CHKA,CLCF1,CNIH2,CORO1B,CPT1A,CST6,CTSF,CTSW,DOC2GP,DPF2,DPP3,DRAP1,EFEMP2,EHBP1L1,EIF1AD,FADD,FAM86C2P,FAM89B,FGF19,FGF3,FGF4,FIBP,FOSL1,FRMD8,GAL,GAL3ST3,GPR152,GSTP1,IGHMBP2,KAT5,KCNK7,KDM2A,KLC2,LOC100130987,LOC254100,LRFN4,LRP5,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR4691,MIR548AR,MIR548K,MIR612,MRGPRD,MRGPRF,MRPL11,MRPL21,MTL5,MUS81,MYEOV,NDUFS8,NDUFV1,NEAT1,NPAS4,NUDT8,ORAOV1,OVOL1,PACS1,PC,PCNXL3,PELI3,PITPNM1,POLA2,POLD4,PPFIA1,PPP1CA,PPP6R3,PTPRCAP,RAB1B,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RELA,RHOD,RIN1,RNASEH2C,RPS6KB2,SART1,SCYL1,SF3B2,SIPA1,SLC25A45,SLC29A2,SNX32,SPTBN2,SSH3,SSSCA1,SUV420H1,SYT12,TBC1D10C,TBX10,TCIRG1,TIGD3,TMEM134,TMEM151A,TPCN2,TSGA10IP,UNC93B1,YIF1A,ZDHHC24 chr11 6504636 6504736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FXC1 chr11 65049001 65179000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC42EP2,DPF2,FRMD8,POLA2,SLC25A45,TIGD3 chr11 65049124 65062758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLA2 chr11 65049124 65062758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLA2 chr11 65049159 65062750 Gain and loss Pancreatic cancer SNP array 17952125 POLA2 chr11 65062607 65082275 Gain and loss Pancreatic cancer SNP array 17952125 POLA2 chr11 65062866 65082275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLA2 chr11 65062866 65082275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLA2 chr11 6506696 6511987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65074883 65074945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 165075348 165090334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165075348 165090334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165092377 165112103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165092377 165112103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65094519 65095793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65094519 65095793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65094519 65095808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16509639 16784062 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF19,FBXO42,NECAP2,RSG1,SPATA21,SZRD1 chr1 16509639 16870964 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF19,CROCCP3,FBXO42,NECAP2,RSG1,SPATA21,SZRD1 chr1 16509639 17088074 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF19,CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,RSG1,SPATA21,SZRD1 chr1 16509639 17229287 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ARHGEF19,CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,RSG1,SPATA21,SZRD1 chr11 65096396 65098237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65096396 65098245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65096396 65098245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65100085 65116691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF2 chr11 65100388 65116518 Gain and loss Pancreatic cancer SNP array 17952125 DPF2 chr1 165104609 165105071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165104868 165104968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 65109442 65174965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPF2,FRMD8,SLC25A45,TIGD3 chr11 65109442 65174965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF2,FRMD8,SLC25A45,TIGD3 chr11 65115241 65116523 Gain and loss Pancreatic cancer SNP array 17952125 DPF2 chr11 65116903 65120043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPF2 chr11 65116903 65120043 Gain and loss Pancreatic cancer SNP array 17952125 DPF2 chr11 65116903 65120043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF2 chr11 6511730 6526841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 6511730 6526841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 65121801 65138296 Copy number Lung cancer - 20668451 TIGD3 chr11 65121801 65138296 Gain or loss Breast cancer - 20668451 TIGD3 chr11 65121801 65138296 Gain or loss Cancer - 20668451 TIGD3 chr11 65121801 65138296 Gain or loss Lung cancer - 20668451 TIGD3 chr11 65121801 65138296 Gain or loss Ovarian cancer - 20668451 TIGD3 chr11 65121801 65138296 Gain or loss Pancreas cancer - 20668451 TIGD3 chr11 65121801 65138296 Gain or loss Prostate cancer - 20668451 TIGD3 chr11 65121802 65138296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIGD3 chr11 65121802 65138296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIGD3 chr11 65121805 65138296 Gain and loss Pancreatic cancer SNP array 17952125 TIGD3 chr11 65123578 65123678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TIGD3 chr1 16512537 16531878 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF19 chr11 65126595 65786085 LOH Normal High-resolution SNP genotyping 21211785 AP5B1,BANF1,C11orf68,CATSPER1,CCDC85B,CFL1,CST6,CTSW,DRAP1,EFEMP2,EHBP1L1,EIF1AD,FAM89B,FIBP,FOSL1,FRMD8,KAT5,KCNK7,LOC254100,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR548AR,MIR612,MUS81,NEAT1,OVOL1,PCNXL3,RELA,RNASEH2C,SART1,SCYL1,SIPA1,SLC25A45,SNX32,SSSCA1,TSGA10IP chr11 65140359 65161486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD8,SLC25A45 chr11 65140359 65161486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD8,SLC25A45 chr11 65141313 65148579 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A45 chr11 65149254 65149625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A45 chr1 165150614 165152086 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65150900 65161352 Gain and loss Pancreatic cancer SNP array 17952125 FRMD8 chr1 165154620 165211185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMX1A chr1 165154620 165211185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMX1A chr1 16516357 16784062 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF19,FBXO42,NECAP2,RSG1,SPATA21,SZRD1 chr1 16516357 16870964 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF19,CROCCP3,FBXO42,NECAP2,RSG1,SPATA21,SZRD1 chr1 16516357 17088074 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF19,CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,RSG1,SPATA21,SZRD1 chr1 16516357 17088074 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF19,CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,RSG1,SPATA21,SZRD1 chr1 16516357 17229287 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF19,CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,RSG1,SPATA21,SZRD1 chr11 65164168 65174965 Gain and loss Pancreatic cancer SNP array 17952125 FRMD8 chr11 6517670 6526841 Gain and loss Pancreatic cancer SNP array 17952125 DNHD1 chr11 65177647 65186951 Gain or loss Breast cancer - 20668451 FRMD8 chr11 65177647 65186951 Gain or loss Cancer - 20668451 FRMD8 chr11 65177647 65186951 Gain or loss Lung cancer - 20668451 FRMD8 chr11 65177647 65186951 Gain or loss Ovarian cancer - 20668451 FRMD8 chr11 65177647 65186951 Gain or loss Pancreas cancer - 20668451 FRMD8 chr11 65177647 65186951 Gain or loss Prostate cancer - 20668451 FRMD8 chr11 65177647 65186951 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FRMD8 chr11 65177649 65186959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD8 chr11 65177649 65186959 Gain and loss Pancreatic cancer SNP array 17952125 FRMD8 chr11 65177649 65186959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD8 chr1 1651818 1762425 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CDK11A,CDK11B,GNB1,NADK,SLC35E2 chr1 1651818 1762425 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDK11A,CDK11B,GNB1,NADK,SLC35E2 chr1 1651818 1762425 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDK11A,CDK11B,GNB1,NADK,SLC35E2 chr1 165190230 165190939 Loss Normal 244K array 17666407 LMX1A chr11 65219582 65219882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65219599 65219884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65219599 65219884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165224975 165258071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMX1A chr1 165224975 165258071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMX1A chr11 65236064 65243651 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr11 65236065 65243650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65236065 65243650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65236065 65243650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65236182 73460310 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,AP5B1,ARAP1,ARHGEF17,ATG16L2,B3GNT1,BANF1,BBS1,BRMS1,C11orf24,C11orf68,C11orf80,C11orf86,CABP2,CABP4,CARNS1,CATSPER1,CCDC85B,CCDC87,CCND1,CCS,CD248,CDK2AP2,CFL1,CHKA,CLCF1,CLPB,CNIH2,CORO1B,CPT1A,CST6,CTSF,CTSW,CTTN,DEFB108B,DHCR7,DOC2GP,DPP3,DRAP1,EFEMP2,EHBP1L1,EIF1AD,FADD,FAM168A,FAM86C1,FAM86C2P,FAM89B,FCHSD2,FGF19,FGF3,FGF4,FIBP,FLJ42102,FOLR1,FOLR2,FOLR3,FOSL1,GAL,GAL3ST3,GPR152,GSTP1,IGHMBP2,IL18BP,INPPL1,KAT5,KCNK7,KDM2A,KLC2,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LOC100129216,LOC100130987,LOC100133315,LOC254100,LRFN4,LRP5,LRTOMT,LTBP3,MALAT1,MAP3K11,MIR139,MIR3165,MIR3664,MIR4489,MIR4690,MIR4691,MIR4692,MIR548AR,MIR548K,MRGPRD,MRGPRF,MRPL11,MRPL21,MTL5,MUS81,MYEOV,NADSYN1,NDUFS8,NDUFV1,NPAS4,NUDT8,NUMA1,ORAOV1,OVOL1,P2RY2,P2RY6,PACS1,PC,PCNXL3,PDE2A,PELI3,PHOX2A,PITPNM1,PLEKHB1,POLD4,PPFIA1,PPP1CA,PPP6R3,PTPRCAP,RAB1B,RAB6A,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RELA,RELT,RHOD,RIN1,RNASEH2C,RNF121,RPS6KB2,SART1,SCYL1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC29A2,SNX32,SPTBN2,SSH3,SSSCA1,STARD10,SUV420H1,SYT12,TBC1D10C,TBX10,TCIRG1,TMEM134,TMEM151A,TPCN2,TSGA10IP,UNC93B1,YIF1A,ZDHHC24 chr1 165241661 165244880 Gain and loss Pancreatic cancer SNP array 17952125 LMX1A chr11 65241720 65244985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65241720 65244985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165241820 165241938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMX1A chr11 65242485 65834242 LOH Normal High-resolution SNP genotyping 21211785 AP5B1,BANF1,C11orf68,CATSPER1,CCDC85B,CFL1,CST6,CTSW,DRAP1,EFEMP2,EHBP1L1,EIF1AD,FAM89B,FIBP,FOSL1,GAL3ST3,KAT5,KCNK7,LOC254100,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR548AR,MUS81,OVOL1,PCNXL3,RELA,RNASEH2C,SART1,SCYL1,SF3B2,SIPA1,SNX32,SSSCA1,TSGA10IP chr11 65242485 66431110 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,AP5B1,B3GNT1,BANF1,BBS1,BRMS1,C11orf68,CATSPER1,CCDC85B,CCDC87,CCS,CD248,CFL1,CNIH2,CST6,CTSF,CTSW,DPP3,DRAP1,EFEMP2,EHBP1L1,EIF1AD,FAM89B,FIBP,FOSL1,GAL3ST3,KAT5,KCNK7,KLC2,LOC254100,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR548AR,MRPL11,MUS81,NPAS4,OVOL1,PACS1,PCNXL3,PELI3,RAB1B,RBM14,RBM14-RBM4,RBM4,RELA,RIN1,RNASEH2C,SART1,SCYL1,SF3B2,SIPA1,SLC29A2,SNX32,SSSCA1,TMEM151A,TSGA10IP,YIF1A,ZDHHC24 chr1 165242843 165242934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMX1A chr11 65243618 65244985 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65250941 65252261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65250941 65252261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165277297 165277395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMX1A chr1 165277514 165282973 Gain and loss Pancreatic cancer SNP array 17952125 LMX1A chr1 165278035 165278132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMX1A chr11 65283632 65283697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 65287566 65287666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 165288706 165326492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMX1A chr1 165288706 165326492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMX1A chr11 65300001 65322500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LTBP3,SCYL1 chr11 65302192 65303045 Gain and loss Pancreatic cancer SNP array 17952125 SCYL1 chr11 65302192 65303045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCYL1 chr1 165309240 165353963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMX1A chr11 65311105 65321259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LTBP3 chr11 65311105 65321259 Gain and loss Pancreatic cancer SNP array 17952125 LTBP3 chr11 65311105 65321259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBP3 chr11 65316469 65478939 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 EHBP1L1,FAM89B,KCNK7,LOC254100,LTBP3,MAP3K11,MIR4489,MIR4690,PCNXL3,RELA,SIPA1,SSSCA1 chr11 65316469 65478939 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EHBP1L1,FAM89B,KCNK7,LOC254100,LTBP3,MAP3K11,MIR4489,MIR4690,PCNXL3,RELA,SIPA1,SSSCA1 chr1 165324596 165324685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMX1A chr1 165329906 165364990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165329906 165364990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165338794 165338857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 65355001 65357500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EHBP1L1 chr11 65356263 65356577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EHBP1L1 chr11 65357986 65377746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHBP1L1,KCNK7,MAP3K11 chr11 65357986 65377746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHBP1L1,KCNK7,MAP3K11 chr11 65358000 65380938 Gain and loss Pancreatic cancer SNP array 17952125 EHBP1L1,KCNK7,MAP3K11 chr11 65366226 65366300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K11 chr11 65372001 65416500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAP3K11,MIR4690,PCNXL3,SIPA1 chr11 65378866 65383462 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K11 chr11 65378884 65382380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K11 chr11 65378884 65382380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K11 chr11 65384447 65390490 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 PCNXL3 chr11 65384525 65390485 Gain and loss Pancreatic cancer SNP array 17952125 PCNXL3 chr11 65384801 65390485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCNXL3 chr11 65384801 65390485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCNXL3 chr11 65390488 65396852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCNXL3 chr11 65390488 65396852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCNXL3 chr11 65390489 65396858 Gain and loss Pancreatic cancer SNP array 17952125 PCNXL3 chr1 16539237 16564410 Gain and loss Pancreatic cancer SNP array 17952125 RSG1 chr1 165396365 165430086 Gain and loss Pancreatic cancer SNP array 17952125 RXRG chr11 65397001 65402000 Deletion Glioma mate-paired sequence 20126413 PCNXL3 chr1 165398284 165398716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RXRG chr11 65398684 65400095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCNXL3 chr11 65403860 65407786 Gain and loss Pancreatic cancer SNP array 17952125 PCNXL3,SIPA1 chr11 65403860 65407788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCNXL3,SIPA1 chr11 65403860 65407788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCNXL3,SIPA1 chr11 65403992 66957391 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,AP5B1,B3GNT1,BANF1,BBS1,BRMS1,C11orf68,C11orf80,C11orf86,CATSPER1,CCDC85B,CCDC87,CCS,CD248,CFL1,CNIH2,CST6,CTSF,CTSW,DPP3,DRAP1,EFEMP2,EIF1AD,FIBP,FOSL1,GAL3ST3,KAT5,KDM2A,KLC2,LRFN4,MIR4489,MRPL11,MUS81,NPAS4,OVOL1,PACS1,PC,PCNXL3,PELI3,RAB1B,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RELA,RHOD,RIN1,RNASEH2C,SART1,SF3B2,SIPA1,SLC29A2,SNX32,SPTBN2,SYT12,TMEM151A,TSGA10IP,YIF1A,ZDHHC24 chr11 65405945 65406025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1 chr11 65407786 65412586 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SIPA1 chr11 65407787 65412586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIPA1 chr11 65407787 65412586 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1 chr11 65407787 65412586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1 chr11 65413007 65413107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1 chr11 65414451 65415681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIPA1 chr11 65414451 65415681 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1 chr11 65414451 65415681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1 chr11 65416267 65424573 Gain or loss Breast cancer - 20668451 MIR4489,RELA,SIPA1 chr11 65416267 65424573 Gain or loss Cancer - 20668451 MIR4489,RELA,SIPA1 chr11 65416267 65424573 Gain or loss Lung cancer - 20668451 MIR4489,RELA,SIPA1 chr11 65416267 65424573 Gain or loss Ovarian cancer - 20668451 MIR4489,RELA,SIPA1 chr11 65416267 65424573 Gain or loss Pancreas cancer - 20668451 MIR4489,RELA,SIPA1 chr11 65416267 65424573 Gain or loss Prostate cancer - 20668451 MIR4489,RELA,SIPA1 chr11 65416268 65424573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4489,RELA,SIPA1 chr11 65416268 65424573 Gain and loss Pancreatic cancer SNP array 17952125 MIR4489,RELA,SIPA1 chr11 65416268 65424573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4489,RELA,SIPA1 chr11 6541883 6549828 Gain and loss Pancreatic cancer SNP array 17952125 DNHD1 chr1 165429834 165429934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 6543911 6549825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 6543911 6549825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 65440861 65443107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65440861 65443107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65440861 65443107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65443304 65445607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65443304 65445607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65443304 65445607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65449691 65449841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 165456744 165663206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH9A1,LOC400794,LRRC52,MGST3 chr1 165456744 165663206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH9A1,LOC400794,LRRC52,MGST3 chr1 165462850 165462884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC400794 chr11 65466003 65480092 Gain Normal Birdsuite, version 1.5.2 22087296 KAT5 chr11 65469691 65484010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAT5 chr11 65469691 65484010 Gain and loss Pancreatic cancer SNP array 17952125 KAT5 chr11 65469691 65484010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT5 chr1 165477236 165477324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC400794 chr11 65485736 65504183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAT5,RNASEH2C chr11 65485736 65504183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT5,RNASEH2C chr11 65485776 65504177 Gain and loss Pancreatic cancer SNP array 17952125 KAT5,RNASEH2C chr1 165500000 169100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADCY10,ALDH9A1,ANKRD36BP1,ATP1B1,CD247,CREG1,DCAF6,DPT,DUSP27,FAM78B,FMO9P,GPA33,GPR161,ILDR2,LINC00626,LOC100505918,LOC400794,LOC440700,LRRC52,MAEL,MGST3,MIR3658,MIR557,MIR921,MPC2,MPZL1,POGK,POU2F1,RCSD1,SFT2D2,TADA1,TBX19,TIPRL,TMCO1,UCK2,XCL1,XCL2 chr1 165500000 169100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADCY10,ALDH9A1,ANKRD36BP1,ATP1B1,CD247,CREG1,DCAF6,DPT,DUSP27,FAM78B,FMO9P,GPA33,GPR161,ILDR2,LINC00626,LOC100505918,LOC400794,LOC440700,LRRC52,MAEL,MGST3,MIR3658,MIR557,MIR921,MPC2,MPZL1,POGK,POU2F1,RCSD1,SFT2D2,TADA1,TBX19,TIPRL,TMCO1,UCK2,XCL1,XCL2 chr1 165500000 170900000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ADCY10,ALDH9A1,ANKRD36BP1,ATP1B1,BLZF1,C1orf112,C1orf114,CD247,CREG1,DCAF6,DPT,DUSP27,F5,FAM78B,FMO9P,GORAB,GPA33,GPR161,ILDR2,KIFAP3,LINC00626,LOC100505918,LOC284688,LOC400794,LOC440700,LRRC52,MAEL,METTL11B,METTL18,MGST3,MIR3119-1,MIR3119-2,MIR3658,MIR557,MIR921,MPC2,MPZL1,NME7,POGK,POU2F1,PRRX1,RCSD1,SCYL3,SELE,SELL,SELP,SFT2D2,SLC19A2,TADA1,TBX19,TIPRL,TMCO1,UCK2,XCL1,XCL2 chr1 165500000 172900000 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 ADCY10,ALDH9A1,ANKRD36BP1,ATP1B1,BLZF1,C1orf105,C1orf112,C1orf114,C1orf129,CD247,CREG1,DCAF6,DNM3,DNM3OS,DPT,DUSP27,F5,FAM78B,FASLG,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GORAB,GPA33,GPR161,ILDR2,KIFAP3,LINC00626,LOC100505918,LOC284688,LOC400794,LOC440700,LRRC52,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3658,MIR557,MIR921,MPC2,MPZL1,MYOC,NME7,PIGC,POGK,POU2F1,PRRC2C,PRRX1,RCSD1,SCYL3,SELE,SELL,SELP,SFT2D2,SLC19A2,SUCO,TADA1,TBX19,TIPRL,TMCO1,TOP1P1,UCK2,VAMP4,XCL1,XCL2 chr1 165500000 185800000 Amplification Hepatocellular carcinoma Array CGH 16750200 ABL2,ACBD6,ADCY10,ALDH9A1,ANGPTL1,ANKRD36BP1,ANKRD45,APOBEC4,ARPC5,ASTN1,ATP1B1,AXDND1,BLZF1,C1orf105,C1orf112,C1orf114,C1orf129,C1orf21,C1orf220,CACNA1E,CACYBP,CD247,CENPL,CEP350,CREG1,DARS2,DCAF6,DHX9,DNM3,DNM3OS,DPT,DUSP27,EDEM3,F5,FAM129A,FAM163A,FAM20B,FAM5B,FAM78B,FASLG,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GORAB,GPA33,GPR161,GPR52,HMCN1,IER5,ILDR2,IVNS1ABP,KIAA0040,KIAA1614,KIFAP3,KLHL20,LAMC1,LAMC2,LHX4,LINC00272,LINC00626,LOC100288079,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC400794,LOC440700,LOC730102,LOC730159,LRRC52,MAEL,METTL11B,METTL13,METTL18,MGST3,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3658,MIR4424,MIR488,MIR557,MIR921,MPC2,MPZL1,MR1,MRPS14,MYOC,NCF2,NME7,NMNAT2,NPHS2,NPL,PAPPA2,PIGC,POGK,POU2F1,PRDX6,PRRC2C,PRRX1,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RGL1,RGS16,RGS8,RGSL1,RNASEL,RNF2,SCARNA3,SCYL3,SEC16B,SELE,SELL,SELP,SERPINC1,SFT2D2,SHCBP1L,SLC19A2,SLC9C2,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,STX6,SUCO,SWT1,TADA1,TBX19,TDRD5,TEDDM1,TEX35,TIPRL,TMCO1,TNFSF18,TNFSF4,TNN,TNR,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TRMT1L,TSEN15,UCK2,VAMP4,XCL1,XCL2,XPR1,ZBTB37,ZNF648 chr11 65503275 65503477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 65503486 65503725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16551001 16552000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 65514332 65521478 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 65520593 65526154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65520593 65526154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65526126 65528192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65526126 65528192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65526126 65528192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165534736 165534826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC400794 chr11 65536037 65537552 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 65536037 65537552 Gain or loss Cancer - 20668451 NOT_FOUND chr11 65536037 65537552 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 65536037 65537552 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 65536037 65537552 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 65536037 65537552 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 65536038 65537551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65536038 65537551 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65536038 65537551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65540800 65550564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP5B1 chr11 65540800 65550564 Gain and loss Pancreatic cancer SNP array 17952125 AP5B1 chr11 65540800 65550564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP5B1 chr11 65559640 65560038 Gain and loss Pancreatic cancer SNP array 17952125 OVOL1 chr1 165560244 165560306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 65564815 65573227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65564815 65573227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65566029 65573227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6557442 6557651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNHD1 chr11 65576392 65592958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65576392 65592958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65576425 65592945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65577191 65577263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65577191 65577263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65582501 65592000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 65594400 65768789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf68,CCDC85B,CFL1,CTSW,DRAP1,EFEMP2,EIF1AD,FIBP,FOSL1,MUS81,SART1,SNX32,TSGA10IP chr11 65594400 65768789 Gain and loss Pancreatic cancer SNP array 17952125 C11orf68,CCDC85B,CFL1,CTSW,DRAP1,EFEMP2,EIF1AD,FIBP,FOSL1,MUS81,SART1,SNX32,TSGA10IP chr11 65594400 65768789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf68,CCDC85B,CFL1,CTSW,DRAP1,EFEMP2,EIF1AD,FIBP,FOSL1,MUS81,SART1,SNX32,TSGA10IP chr11 65596001 65739000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf68,CCDC85B,CFL1,CTSW,DRAP1,EFEMP2,FIBP,FOSL1,MUS81,SART1,SNX32,TSGA10IP chr11 65632984 65633063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MUS81 chr11 65634943 65634997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFEMP2 chr1 165639363 165639819 Gain and loss Pancreatic cancer SNP array 17952125 ALDH9A1 chr11 65660241 65661297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FOSL1 chr1 16566307 16597224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO42 chr1 16566307 16597224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO42 chr1 165666509 165754456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH9A1,LOC440700,TMCO1 chr1 165666509 165754456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH9A1,LOC440700,TMCO1 chr1 16566864 16757830 Loss Normal 244K array 17666407 FBXO42,SPATA21,SZRD1 chr11 65676668 65676772 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 65676668 65676772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16568232 16568612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65683714 65705369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf68,DRAP1 chr11 65690475 65695906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 65701986 65702149 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 1657116 1658550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35E2 chr1 16571475 16571559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 6572881 6581332 Gain and loss Pancreatic cancer SNP array 17952125 DNHD1 chr11 65729293 65729801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SART1 chr1 165736233 165736768 Loss Normal 244K array 17666407 TMCO1 chr11 65738143 65738207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SART1 chr1 165755397 165756447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 65758037 65758137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 165776877 165789684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165776877 165789684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6577732 6581387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 6577732 6581387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr1 165777414 165778114 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 65777735 65801539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPER1,CST6 chr11 65777735 65801539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPER1,CST6 chr1 165779364 165779464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 65781001 65872500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CATSPER1,GAL3ST3,PACS1,SF3B2 chr11 65781766 65791907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPER1 chr11 65781766 65791907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPER1 chr11 65781805 65791906 Gain and loss Pancreatic cancer SNP array 17952125 CATSPER1 chr11 6578372 6578659 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DNHD1 chr11 65792681 65801537 Gain and loss Pancreatic cancer SNP array 17952125 CATSPER1 chr1 165799502 166538779 LOH Normal High-resolution SNP genotyping 21211785 FAM78B,MIR3658,MIR921,UCK2 chr11 65802272 65808259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAL3ST3 chr11 65802272 65808259 Gain and loss Pancreatic cancer SNP array 17952125 GAL3ST3 chr11 65802272 65808259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAL3ST3 chr11 6580757 6595175 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DNHD1 chr1 165807605 165833618 Gain and loss Pancreatic cancer SNP array 17952125 UCK2 chr11 65808626 65813214 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 GAL3ST3 chr11 65808627 65813196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAL3ST3 chr11 65808627 65813196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAL3ST3 chr11 65808628 65813165 Gain and loss Pancreatic cancer SNP array 17952125 GAL3ST3 chr11 6581539 6588675 Gain or loss Breast cancer - 20668451 DNHD1 chr11 6581539 6588675 Gain or loss Cancer - 20668451 DNHD1 chr11 6581539 6588675 Gain or loss Lung cancer - 20668451 DNHD1 chr11 6581539 6588675 Gain or loss Ovarian cancer - 20668451 DNHD1 chr11 6581539 6588675 Gain or loss Pancreas cancer - 20668451 DNHD1 chr11 6581539 6588675 Gain or loss Prostate cancer - 20668451 DNHD1 chr11 6581540 6588673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 6581540 6588673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 65815610 65816862 Gain Normal 244K array 17666407 GAL3ST3 chr11 6581588 6588673 Gain and loss Pancreatic cancer SNP array 17952125 DNHD1 chr11 65815917 65820704 Gain and loss Pancreatic cancer SNP array 17952125 GAL3ST3,SF3B2 chr11 65815917 65820707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAL3ST3,SF3B2 chr11 65815917 65820707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAL3ST3,SF3B2 chr11 65818204 67236717 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,ADRBK1,ANKRD13D,B3GNT1,BBS1,BRMS1,C11orf80,C11orf86,CABP4,CARNS1,CCDC87,CCS,CD248,CLCF1,CNIH2,CORO1B,CTSF,DPP3,GPR152,KDM2A,KLC2,LOC100130987,LRFN4,MRPL11,NPAS4,PACS1,PC,PELI3,POLD4,PPP1CA,PTPRCAP,RAB1B,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RHOD,RIN1,RPS6KB2,SF3B2,SLC29A2,SPTBN2,SSH3,SYT12,TBC1D10C,TMEM134,TMEM151A,YIF1A,ZDHHC24 chr1 165827253 165827708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UCK2 chr11 65829988 66742116 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTN3,B3GNT1,BBS1,BRMS1,C11orf80,CCDC87,CCS,CD248,CNIH2,CTSF,DPP3,KLC2,LRFN4,MRPL11,NPAS4,PACS1,PC,PELI3,RAB1B,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RIN1,SF3B2,SLC29A2,SPTBN2,TMEM151A,YIF1A,ZDHHC24 chr1 165833433 166068844 Gain and loss Pancreatic cancer SNP array 17952125 FAM78B,MIR3658,UCK2 chr11 65838801 65841074 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr11 65838801 65841074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65848848 67227009 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,ADRBK1,ANKRD13D,B3GNT1,BBS1,BRMS1,C11orf80,C11orf86,CABP4,CARNS1,CCDC87,CCS,CD248,CLCF1,CNIH2,CORO1B,CTSF,DPP3,GPR152,KDM2A,KLC2,LOC100130987,LRFN4,MRPL11,NPAS4,PACS1,PC,PELI3,POLD4,PPP1CA,PTPRCAP,RAB1B,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RHOD,RIN1,RPS6KB2,SLC29A2,SPTBN2,SSH3,SYT12,TBC1D10C,TMEM151A,YIF1A,ZDHHC24 chr11 65849651 66431110 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,B3GNT1,BBS1,BRMS1,CCDC87,CCS,CD248,CNIH2,CTSF,DPP3,KLC2,MRPL11,NPAS4,PACS1,PELI3,RAB1B,RBM14,RBM14-RBM4,RBM4,RIN1,SLC29A2,TMEM151A,YIF1A,ZDHHC24 chr11 65856117 65860576 Gain or loss Breast cancer - 20668451 PACS1 chr11 65856117 65860576 Gain or loss Cancer - 20668451 PACS1 chr11 65856117 65860576 Gain or loss Lung cancer - 20668451 PACS1 chr11 65856117 65860576 Gain or loss Ovarian cancer - 20668451 PACS1 chr11 65856117 65860576 Gain or loss Pancreas cancer - 20668451 PACS1 chr11 65856117 65860576 Gain or loss Prostate cancer - 20668451 PACS1 chr11 65856118 65860576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65856118 65860576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65856129 65860576 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr1 16585923 16586086 Gain and loss Pancreatic cancer SNP array 17952125 FBXO42 chr11 65861380 65869158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65861380 65869158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65861387 65869132 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr1 165861389 165861577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UCK2 chr11 65865747 67166179 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,ADRBK1,ANKRD13D,B3GNT1,BBS1,BRMS1,C11orf80,C11orf86,CCDC87,CCS,CD248,CLCF1,CNIH2,CTSF,DPP3,KDM2A,KLC2,LOC100130987,LRFN4,MRPL11,NPAS4,PACS1,PC,PELI3,POLD4,PPP1CA,RAB1B,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RHOD,RIN1,SLC29A2,SPTBN2,SSH3,SYT12,TMEM151A,YIF1A,ZDHHC24 chr1 165865954 165942109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3658,UCK2 chr1 165865954 165942109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3658,UCK2 chr11 65869420 65871676 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr11 65869422 65871737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65869422 65871737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65872501 65883500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PACS1 chr11 65876480 65876512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PACS1 chr11 65883501 65896500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PACS1 chr1 165884323 166361333 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM78B,MIR921 chr11 6588648 6590021 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 DNHD1 chr11 6588649 6590021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 6588649 6590021 Gain and loss Pancreatic cancer SNP array 17952125 DNHD1 chr11 6588649 6590021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 65886569 65895867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65886569 65895867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65886569 65896221 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr11 65900000 70400000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANKRD13D,ANO1,B3GNT1,BBS1,BRMS1,C11orf24,C11orf80,C11orf86,CABP2,CABP4,CARNS1,CCDC87,CCND1,CCS,CD248,CDK2AP2,CHKA,CLCF1,CNIH2,CORO1B,CPT1A,CTSF,CTTN,DOC2GP,DPP3,FADD,FAM86C2P,FGF19,FGF3,FGF4,GAL,GPR152,GSTP1,IGHMBP2,KDM2A,KLC2,LOC100130987,LRFN4,LRP5,MIR4691,MIR548K,MRGPRD,MRGPRF,MRPL11,MRPL21,MTL5,MYEOV,NDUFS8,NDUFV1,NPAS4,NUDT8,ORAOV1,PACS1,PC,PELI3,PITPNM1,POLD4,PPFIA1,PPP1CA,PPP6R3,PTPRCAP,RAB1B,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RHOD,RIN1,RPS6KB2,SHANK2,SLC29A2,SPTBN2,SSH3,SUV420H1,SYT12,TBC1D10C,TBX10,TCIRG1,TMEM134,TMEM151A,TPCN2,UNC93B1,YIF1A,ZDHHC24 chr11 65900000 75200000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ACTN3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANKRD13D,ANO1,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT1,BBS1,BRMS1,C11orf24,C11orf80,C11orf86,C2CD3,CABP2,CABP4,CARNS1,CCDC87,CCND1,CCS,CD248,CDK2AP2,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CNIH2,CORO1B,CPT1A,CTSF,CTTN,DEFB108B,DHCR7,DNAJB13,DOC2GP,DPP3,FADD,FAM168A,FAM86C1,FAM86C2P,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAL,GDPD5,GPR152,GSTP1,IGHMBP2,IL18BP,INPPL1,KCNE3,KDM2A,KLC2,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130987,LOC100133315,LRFN4,LRP5,LRTOMT,MIR139,MIR3165,MIR326,MIR3664,MIR4691,MIR4692,MIR4696,MIR548K,MRGPRD,MRGPRF,MRPL11,MRPL21,MRPL48,MTL5,MYEOV,NADSYN1,NDUFS8,NDUFV1,NEU3,NPAS4,NUDT8,NUMA1,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PC,PDE2A,PELI3,PGM2L1,PHOX2A,PITPNM1,PLEKHB1,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP6R3,PTPRCAP,RAB1B,RAB6A,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RELT,RHOD,RIN1,RNF121,RNF169,RPS3,RPS6KB2,SHANK2,SHANK2-AS1,SLC29A2,SLCO2B1,SNORD15A,SNORD15B,SPCS2,SPTBN2,SSH3,STARD10,SUV420H1,SYT12,TBC1D10C,TBX10,TCIRG1,TMEM134,TMEM151A,TPBGL,TPCN2,UCP2,UCP3,UNC93B1,XRRA1,YIF1A,ZDHHC24 chr1 1659016 1662463 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SLC35E2 chr1 16590501 16702500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBXO42,SZRD1 chr11 6590573 6597268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 6590573 6597268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNHD1 chr11 6590579 6597236 Gain and loss Pancreatic cancer SNP array 17952125 DNHD1 chr11 65917496 65917659 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr11 65917496 65917659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65917498 65917659 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr1 165920831 165938066 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 165920831 165946237 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 65932501 65935500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PACS1 chr11 65942018 67205176 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,ADRBK1,ANKRD13D,B3GNT1,BBS1,BRMS1,C11orf80,C11orf86,CARNS1,CCDC87,CCS,CD248,CLCF1,CNIH2,CTSF,DPP3,KDM2A,KLC2,LOC100130987,LRFN4,MRPL11,NPAS4,PACS1,PC,PELI3,POLD4,PPP1CA,PTPRCAP,RAB1B,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RHOD,RIN1,RPS6KB2,SLC29A2,SPTBN2,SSH3,SYT12,TBC1D10C,TMEM151A,YIF1A,ZDHHC24 chr11 65945051 65950753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65945051 65950753 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr11 65945051 65950753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr1 16594763 16636506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO42 chr1 16594763 16636506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO42 chr11 65956813 65956949 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr11 65956813 65956949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65956817 65956948 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr1 165957826 166026682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165957826 166026682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 165957831 166026684 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 165958831 165972945 Loss or gain Normal 244K array 17666407 NOT_FOUND chr11 65959159 65962880 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PACS1 chr11 65959882 65962880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65959882 65962880 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr11 65959882 65962880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr1 165980140 176122738 Loss Developmental delay affymetrix genechip 500K/SNP 6.6 array 21147756 ADCY10,ANKRD36BP1,ANKRD45,ATP1B1,BLZF1,C1orf105,C1orf112,C1orf114,C1orf129,CACYBP,CD247,CENPL,CREG1,DARS2,DCAF6,DNM3,DNM3OS,DPT,DUSP27,F5,FAM78B,FASLG,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GAS5,GAS5-AS1,GORAB,GPA33,GPR161,GPR52,ILDR2,KIAA0040,KIFAP3,KLHL20,LINC00626,LOC100505918,LOC100506023,LOC284688,LOC730159,MAEL,METTL11B,METTL13,METTL18,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR557,MIR921,MPC2,MPZL1,MRPS14,MYOC,NME7,PIGC,POGK,POU2F1,PRDX6,PRRC2C,PRRX1,RABGAP1L,RC3H1,RCSD1,RFWD2,SCARNA3,SCYL3,SELE,SELL,SELP,SERPINC1,SFT2D2,SLC19A2,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SUCO,TADA1,TBX19,TIPRL,TNFSF18,TNFSF4,TNN,TNR,TOP1P1,VAMP4,XCL1,XCL2,ZBTB37 chr11 65984182 65984324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PACS1 chr11 65984328 65984504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PACS1 chr11 6599001 6619500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 65990912 66001381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65990912 66001381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS1 chr11 65990965 66001381 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PACS1 chr11 65990991 66001383 Gain and loss Pancreatic cancer SNP array 17952125 PACS1 chr11 6599134 6633656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ILK,RRP8,TAF10 chr11 6599134 6633656 Gain and loss Pancreatic cancer SNP array 17952125 ILK,RRP8,TAF10 chr11 6599134 6633656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ILK,RRP8,TAF10 chr11 65996001 66004500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PACS1 chr1 165998818 165998918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 66004456 66033706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLC2,PACS1 chr11 66004456 66033706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLC2,PACS1 chr11 66004456 66057660 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNIH2,KLC2,PACS1,RAB1B,YIF1A chr11 66004456 66057660 Gain and loss Pancreatic cancer SNP array 17952125 CNIH2,KLC2,PACS1,RAB1B,YIF1A chr1 16602533 16784062 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FBXO42,NECAP2,SPATA21,SZRD1 chr1 16602533 16784062 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FBXO42,NECAP2,SPATA21,SZRD1 chr1 16602533 16870964 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP3,FBXO42,NECAP2,SPATA21,SZRD1 chr1 16602533 17088074 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16602533 17088074 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 166031948 166034220 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 66033125 66057660 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CNIH2,KLC2,RAB1B,YIF1A chr1 166033228 166033326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 66034666 66057660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNIH2,KLC2,RAB1B,YIF1A chr11 66034666 66057660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNIH2,KLC2,RAB1B,YIF1A chr11 66034695 66057660 Copy number Autism exome sequencing 22495311 CNIH2,KLC2,RAB1B,YIF1A chr11 66035077 66035147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLC2 chr1 166038498 166038598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 66040318 66059237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNIH2,RAB1B,YIF1A chr1 166045507 166149964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM78B,MIR921 chr1 166045507 166149964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM78B,MIR921 chr1 166049434 166049705 Loss Normal 244K array 17666407 FAM78B chr11 66055001 66056500 Copy number Normal ReadDepth: A Parallel R Package 21305028 YIF1A chr1 166055760 166056110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM78B chr1 16605844 16606021 Gain and loss Pancreatic cancer SNP array 17952125 FBXO42 chr1 16605885 16606021 Gain and loss Pancreatic cancer SNP array 17952125 FBXO42 chr11 66063311 66070247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM151A chr11 66063311 66070247 Gain and loss Pancreatic cancer SNP array 17952125 TMEM151A chr11 66063311 66070247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM151A chr1 166068852 166097436 Gain and loss Pancreatic cancer SNP array 17952125 FAM78B chr11 66069501 66092500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD248 chr11 66070967 66087373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD248 chr11 66070967 66087373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD248 chr1 16607586 16608656 Gain and loss Pancreatic cancer SNP array 17952125 FBXO42 chr11 66078471 67216613 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,ADRBK1,ANKRD13D,B3GNT1,BBS1,BRMS1,C11orf80,C11orf86,CARNS1,CCDC87,CCS,CD248,CLCF1,CORO1B,CTSF,DPP3,KDM2A,LOC100130987,LRFN4,MRPL11,NPAS4,PC,PELI3,POLD4,PPP1CA,PTPRCAP,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RHOD,RIN1,RPS6KB2,SLC29A2,SPTBN2,SSH3,SYT12,TBC1D10C,ZDHHC24 chr11 66078471 67236717 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,ADRBK1,ANKRD13D,B3GNT1,BBS1,BRMS1,C11orf80,C11orf86,CABP4,CARNS1,CCDC87,CCS,CD248,CLCF1,CORO1B,CTSF,DPP3,GPR152,KDM2A,LOC100130987,LRFN4,MRPL11,NPAS4,PC,PELI3,POLD4,PPP1CA,PTPRCAP,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RHOD,RIN1,RPS6KB2,SLC29A2,SPTBN2,SSH3,SYT12,TBC1D10C,TMEM134,ZDHHC24 chr1 166080052 166080152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM78B chr11 66087510 66092617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 66087512 66092623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66087512 66092623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166095772 166128328 Gain and loss Pancreatic cancer SNP array 17952125 FAM78B,MIR921 chr11 66111280 67236717 LOH Normal High-resolution SNP genotyping 21211785 ACTN3,ADRBK1,ANKRD13D,B3GNT1,BBS1,BRMS1,C11orf80,C11orf86,CABP4,CARNS1,CCDC87,CCS,CLCF1,CORO1B,CTSF,DPP3,GPR152,KDM2A,LOC100130987,LRFN4,MRPL11,NPAS4,PC,PELI3,POLD4,PPP1CA,PTPRCAP,RAD9A,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RHOD,RPS6KB2,SLC29A2,SPTBN2,SSH3,SYT12,TBC1D10C,TMEM134,ZDHHC24 chr11 66114215 66117130 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 B3GNT1 chr11 66114513 66117062 Gain and loss Pancreatic cancer SNP array 17952125 B3GNT1 chr11 66114513 66117062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GNT1 chr11 66117245 66130065 Gain and loss Pancreatic cancer SNP array 17952125 SLC29A2 chr11 66117266 66130065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC29A2 chr11 66117266 66130065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC29A2 chr11 66121953 66153157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC29A2 chr1 166135836 166135890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM78B chr11 66138992 66139137 Gain and loss Pancreatic cancer SNP array 17952125 SLC29A2 chr11 66139027 66139137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC29A2 chr11 66139040 66139137 Gain and loss Pancreatic cancer SNP array 17952125 SLC29A2 chr11 66140672 66153961 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 NOT_FOUND chr11 66140673 66151390 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 66140673 66170516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66140673 66170516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166149515 166149592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 66151977 66153961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66151977 66153961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66151977 66153981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 166153930 166172902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166153930 166172902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166155454 171863618 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 ADCY10,ANKRD36BP1,ATP1B1,BLZF1,C1orf112,C1orf114,C1orf129,CD247,CREG1,DCAF6,DNM3,DPT,DUSP27,F5,FMO1,FMO2,FMO3,FMO4,FMO6P,FMO9P,GORAB,GPA33,GPR161,ILDR2,KIFAP3,LINC00626,LOC100505918,LOC284688,MAEL,METTL11B,METTL13,METTL18,MIR1295A,MIR1295B,MIR3119-1,MIR3119-2,MIR557,MPC2,MPZL1,MYOC,NME7,POGK,POU2F1,PRRC2C,PRRX1,RCSD1,SCYL3,SELE,SELL,SELP,SFT2D2,SLC19A2,TADA1,TBX19,TIPRL,TOP1P1,VAMP4,XCL1,XCL2 chr11 66162752 66170514 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 166164123 166186899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 166172532 166311703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166172532 166311703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66186447 66186733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66189048 66201851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPAS4 chr11 66189048 66201851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS4 chr11 66189048 66201910 Gain and loss Pancreatic cancer SNP array 17952125 NPAS4 chr1 16619466 16619538 Gain and loss Pancreatic cancer SNP array 17952125 FBXO42 chr11 66209296 66245446 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PELI3 chr11 66209299 66245446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PELI3 chr11 66209299 66245446 Gain and loss Pancreatic cancer SNP array 17952125 PELI3 chr11 66209299 66245446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PELI3 chr1 166215067 166287379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6622424 6622511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRP8 chr1 166234522 166234588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66236767 66237056 Gain and loss Pancreatic cancer SNP array 17952125 PELI3 chr11 66236767 66237056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PELI3 chr11 66236768 66237056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PELI3 chr11 66239932 66240032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELI3 chr1 1662463 1691761 Loss Normal Birdsuite, version 1.5.2 22087296 NADK,SLC35E2 chr1 16625263 16625334 Gain and loss Pancreatic cancer SNP array 17952125 FBXO42 chr11 66254501 66266500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPP3 chr11 66268783 66367375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTN3,BBS1,CCDC87,CCS,CTSF,DPP3,ZDHHC24 chr11 66268783 66367375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTN3,BBS1,CCDC87,CCS,CTSF,DPP3,ZDHHC24 chr11 66272001 66366500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTN3,BBS1,CCDC87,CCS,CTSF,DPP3,ZDHHC24 chr11 66276916 66277183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPP3 chr11 66285622 66286406 Gain and loss Pancreatic cancer SNP array 17952125 BBS1 chr11 66285622 66286462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BBS1 chr1 166289748 166331059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 166291184 166292356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 166291763 166292284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166291763 166292284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16631152 16637123 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr11 66312206 66367281 Gain and loss Pancreatic cancer SNP array 17952125 ACTN3,CCDC87,CCS,CTSF,ZDHHC24 chr1 16631694 16638408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr1 166320621 166388714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166320621 166388714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16632205 16636928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr1 16633602 16636994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr1 16634229 16657338 Gain and loss Pancreatic cancer SNP array 17952125 FBXO42 chr1 16634709 16638530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr11 6634954 6635039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPP1 chr1 1663531 1665411 Gain and loss Pancreatic cancer SNP array 17952125 SLC35E2 chr1 166355735 166358038 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 66359769 66371914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC87,CCS chr11 66364120 66364210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCS chr11 66366501 66411500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCS,RBM14,RBM14-RBM4,RBM4 chr1 16636704 16639419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr11 66367459 66370579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCS chr11 66367459 66370579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCS chr11 66367459 66370593 Gain and loss Pancreatic cancer SNP array 17952125 CCS chr11 66372572 66482412 Gain and loss Pancreatic cancer SNP array 17952125 CCS,RBM14,RBM14-RBM4,RBM4,RBM4B,SPTBN2 chr11 66372573 66482423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCS,RBM14,RBM14-RBM4,RBM4,RBM4B,SPTBN2 chr11 66372573 66482423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCS,RBM14,RBM14-RBM4,RBM4,RBM4B,SPTBN2 chr1 16637922 16784062 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FBXO42,NECAP2,SPATA21,SZRD1 chr1 16637922 16870964 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP3,FBXO42,NECAP2,SPATA21,SZRD1 chr1 16637922 17088074 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16637922 17088074 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr11 66381549 66384521 Gain and loss Pancreatic cancer SNP array 17952125 RBM14,RBM14-RBM4 chr11 66381549 66398656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM14,RBM14-RBM4 chr11 66381549 66398656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM14,RBM14-RBM4 chr11 6638398 6671322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCHS1,TPP1 chr1 16638522 16665730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr1 166391466 166412385 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16639806 16659159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO42 chr1 16639806 16659159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO42 chr11 66413991 67941168 Duplication Acute myeloid leukemia - 21251322 ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANKRD13D,C11orf80,C11orf86,CABP2,CABP4,CARNS1,CDK2AP2,CHKA,CLCF1,CORO1B,DOC2GP,FAM86C2P,GPR152,GSTP1,KDM2A,LOC100130987,LRFN4,MIR4691,NDUFS8,NDUFV1,NUDT8,PC,PITPNM1,POLD4,PPP1CA,PTPRCAP,RAD9A,RBM4,RBM4B,RCE1,RHOD,RPS6KB2,SPTBN2,SSH3,SUV420H1,SYT12,TBC1D10C,TBX10,TCIRG1,TMEM134,UNC93B1 chr1 166414795 166437976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166414795 166437976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166423440 166434837 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 66443808 66443870 Gain and loss Pancreatic cancer SNP array 17952125 RBM4B chr1 166446478 166446831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16644805 16690927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr1 166451267 166451514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166461812 166479002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166461812 166479002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166461878 166478712 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr11 66466128 66471601 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SPTBN2 chr11 66466701 66471500 Deletion Glioma mate-paired sequence 20126413 SPTBN2 chr11 66468058 66469862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPTBN2 chr11 66468725 66469836 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SPTBN2 chr11 66468753 66469671 Loss or gain Normal 244K array 17666407 SPTBN2 chr1 166482548 166482907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166493333 166495689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16649391 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,FBXO42,MIR3675,NBPF1,NECAP2,SPATA21,SZRD1 chr1 166495889 166553887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 166499237 166499343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66499324 66500298 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 66499324 66500298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66500000 67500000 Amplification Lung cancer Array-based CGH 19153074 ACY3,ADRBK1,AIP,ALDH3B2,ANKRD13D,C11orf80,C11orf86,CABP2,CABP4,CARNS1,CDK2AP2,CLCF1,CORO1B,DOC2GP,GPR152,GSTP1,KDM2A,LOC100130987,LRFN4,NDUFV1,NUDT8,PC,PITPNM1,POLD4,PPP1CA,PTPRCAP,RAD9A,RCE1,RHOD,RPS6KB2,SSH3,SYT12,TBC1D10C,TBX10,TMEM134 chr1 16650266 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,FBXO42,MIR3675,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16650266 16955166 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,FBXO42,MIR3675,NBPF1,NECAP2,SPATA21,SZRD1 chr1 166513664 166616844 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 FMO9P chr1 166513664 166616844 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FMO9P chr1 166513664 166616844 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FMO9P chr1 166516902 166550286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166516902 166550286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66519605 66519672 Gain and loss Pancreatic cancer SNP array 17952125 C11orf80 chr11 66519605 66519672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf80 chr11 66530825 66574905 Gain and loss Pancreatic cancer SNP array 17952125 C11orf80 chr1 16653220 16684903 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO42 chr11 66543864 67216613 LOH Normal High-resolution SNP genotyping 21211785 ADRBK1,ANKRD13D,C11orf80,C11orf86,CARNS1,CLCF1,CORO1B,KDM2A,LOC100130987,LRFN4,PC,POLD4,PPP1CA,PTPRCAP,RAD9A,RCE1,RHOD,RPS6KB2,SSH3,SYT12,TBC1D10C chr11 66547001 66606500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf80 chr11 66547467 66574905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf80 chr11 66547467 66574905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf80 chr11 66552053 67256678 LOH Normal High-resolution SNP genotyping 21211785 ADRBK1,AIP,ANKRD13D,C11orf80,C11orf86,CABP4,CARNS1,CLCF1,CORO1B,GPR152,KDM2A,LOC100130987,LRFN4,PC,POLD4,PPP1CA,PTPRCAP,RAD9A,RCE1,RHOD,RPS6KB2,SSH3,SYT12,TBC1D10C,TMEM134 chr1 166552676 166552731 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 166553889 166594695 Gain and loss Pancreatic cancer SNP array 17952125 FMO9P chr1 166560560 166560851 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 166568387 166568487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 66580896 66596060 Gain or loss Breast cancer - 20668451 C11orf80 chr11 66580896 66596060 Gain or loss Cancer - 20668451 C11orf80 chr11 66580896 66596060 Gain or loss Lung cancer - 20668451 C11orf80 chr11 66580896 66596060 Gain or loss Ovarian cancer - 20668451 C11orf80 chr11 66580896 66596060 Gain or loss Pancreas cancer - 20668451 C11orf80 chr11 66580896 66596060 Gain or loss Prostate cancer - 20668451 C11orf80 chr11 66580897 66596059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf80 chr11 66580897 66596059 Gain and loss Pancreatic cancer SNP array 17952125 C11orf80 chr11 66580897 66596059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf80 chr1 166588056 166588136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMO9P chr11 6659456 6661131 Gain and loss Pancreatic cancer SNP array 17952125 DCHS1 chr11 6659456 6661150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCHS1 chr11 6659456 6661150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCHS1 chr11 665965 666120 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DEAF1 chr1 166600501 167359500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DUSP27,GPA33,ILDR2,MAEL,POGK,POU2F1,TADA1 chr1 166604916 166605463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166606570 166610341 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr11 66609167 66635822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C11orf80,LRFN4,PC,RCE1 chr1 166610350 166610578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 166611386 166611483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66612881 66612962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCE1 chr11 66619001 66622500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PC chr1 166622128 166775537 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1666334 1687925 Gain and loss Pancreatic cancer SNP array 17952125 NADK,SLC35E2 chr11 66644073 66781717 Copy number Lung cancer - 20668451 C11orf86,PC chr11 66644073 66781717 Gain or loss Breast cancer - 20668451 C11orf86,PC chr11 66644073 66781717 Gain or loss Cancer - 20668451 C11orf86,PC chr11 66644073 66781717 Gain or loss Lung cancer - 20668451 C11orf86,PC chr11 66644073 66781717 Gain or loss Ovarian cancer - 20668451 C11orf86,PC chr11 66644073 66781717 Gain or loss Pancreas cancer - 20668451 C11orf86,PC chr11 66644073 66781717 Gain or loss Prostate cancer - 20668451 C11orf86,PC chr11 66644074 66781717 Gain and loss Pancreatic cancer SNP array 17952125 C11orf86,PC chr11 66644074 66781717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf86,PC chr11 66646114 66646214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PC chr11 66651877 66651977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PC chr11 66653318 66746314 Copy number Lung cancer paired-end sequencing 18438408 C11orf86,PC chr1 166658741 166659044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16666518 16691691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO42 chr1 16666518 16691691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO42 chr1 16666761 28781645 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ACTL8,AHDC1,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARID1A,ASAP3,ATP13A2,ATPIF1,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,CROCCP3,DDOST,DHDDS,DNAJC8,E2F2,ECE1,EIF4G3,EMC1,EPHA8,EPHB2,ESPNP,EXTL1,EYA3,FAM110D,FAM43B,FAM46B,FAM54B,FAM76A,FBXO42,FCN3,FGR,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPG2,HTR1D,HTR6,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MED18,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PHACTR4,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PPP1R8,PQLC2,PTAFR,RAP1GAP,RCAN3,RCAN3AS,RCC2,RHCE,RHD,RNF186,RPA2,RPL11,RPS6KA1,RUNX3,SCARNA1,SDHB,SEPN1,SESN2,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SPATA21,SRRM1,SRSF10,STMN1,STPG1,STX12,SYF2,SYTL1,SZRD1,TAS1R2,TCEA3,TCEB3,THEMIS2,TMCO4,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBR4,UBXN10,UBXN11,USP48,VWA5B1,WASF2,WDTC1,WNT4,XKR8,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 16667504 17134822 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr11 6667610 6667710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCHS1 chr1 166685532 166687052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66690625 66690879 Gain and loss Pancreatic cancer SNP array 17952125 PC chr11 66690625 66690879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PC chr11 66698221 66781717 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C11orf86,PC chr11 66706205 125002355 Loss Wilms tumour 250K Genotyping Arrays 21544195 AASDHPPT,ABCG4,ACAT1,ACER3,ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ARHGEF17,ARRB1,ATG16L2,ATM,ATP5L,B3GNT6,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf24,C11orf30,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf86,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CCND1,CD3D,CD3E,CD3G,CDK2AP2,CEP164,CEP57,CHCHD8,CHKA,CHORDC1,CHRDL2,CLCF1,CLDN25,CLMP,CLNS1A,CLPB,CNTN5,CORO1B,CPT1A,CREBZF,CRTAM,CRYAB,CTSC,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DOC2GP,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,ESAM,EXPH5,FADD,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAT3,FCHSD2,FDX1,FDXACB1,FGF19,FGF3,FGF4,FLJ42102,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOXR1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GDPD4,GDPD5,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IGHMBP2,IL10RA,IL18,IL18BP,INPPL1,INTS4,JRKL,JRKL-AS1,KBTBD3,KCNE3,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LIPT2,LOC100129216,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRP5,LRRC32,LRTOMT,MAML2,MAP6,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR139,MIR3165,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4691,MIR4692,MIR4693,MIR4696,MIR548K,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL21,MRPL48,MSANTD2,MSANTD4,MTL5,MTMR2,MTNR1B,MYEOV,MYO7A,NAALAD2,NADSYN1,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEU3,NLRX1,NNMT,NOX4,NPAT,NRGN,NUDT8,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAFAH1B2,PAK1,PANX1,PANX3,PC,PCF11,PCSK7,PDE2A,PDGFD,PDZD3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PLEKHB1,POLD3,POLD4,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP2R1B,PPP6R3,PRCP,PRKRIR,PRSS23,PTPRCAP,PTS,PVRL1,RAB30,RAB38,RAB39A,RAB6A,RAD9A,RBM7,RDX,RELT,REXO2,RHOD,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPS6KB2,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SERPINH1,SESN3,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SORL1,SPA17,SPCS2,SRSF8,SSH3,STARD10,SUV420H1,SYT12,SYTL2,TAF1D,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TECTA,TEX12,THRSP,THY1,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM134,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VPS11,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 66720294 66720569 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PC chr11 66720294 66720569 Gain and loss Pancreatic cancer SNP array 17952125 PC chr11 66742116 67312196 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADRBK1,AIP,ANKRD13D,C11orf86,CABP2,CABP4,CARNS1,CDK2AP2,CLCF1,CORO1B,GPR152,KDM2A,LOC100130987,PITPNM1,POLD4,PPP1CA,PTPRCAP,RAD9A,RHOD,RPS6KB2,SSH3,SYT12,TBC1D10C,TMEM134 chr11 66760906 67047142 Duplication Schizophrenia NimbleGen HD2 platform 21346763 ADRBK1,KDM2A,RHOD,SYT12 chr11 66761416 67781246 Copy number Lung cancer paired-end sequencing 18438408 ACY3,ADRBK1,AIP,ALDH3B1,ALDH3B2,ANKRD13D,CABP2,CABP4,CARNS1,CDK2AP2,CLCF1,CORO1B,DOC2GP,FAM86C2P,GPR152,GSTP1,KDM2A,LOC100130987,NDUFV1,NUDT8,PITPNM1,POLD4,PPP1CA,PTPRCAP,RAD9A,RHOD,RPS6KB2,SSH3,SYT12,TBC1D10C,TBX10,TMEM134,UNC93B1 chr1 16676351 16961924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,FBXO42,MIR3675,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16676351 17134822 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,ESPNP,FBXO42,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 166776626 166779859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166778599 166779216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66782501 66816500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYT12 chr11 66790481 66810605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT12 chr11 66790507 66810602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SYT12 chr11 66790507 66810602 Gain and loss Pancreatic cancer SNP array 17952125 SYT12 chr1 166811242 166811332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POGK chr1 166812480 166817939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POGK chr1 166812480 166817939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POGK chr11 66813395 66826530 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RHOD,SYT12 chr11 66813395 66826530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOD,SYT12 chr11 66813395 66826530 Gain and loss Pancreatic cancer SNP array 17952125 RHOD,SYT12 chr11 66813395 66826530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOD,SYT12 chr1 166814513 166815302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POGK chr1 166815630 166815707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POGK chr1 166820634 166820781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POGK chr11 66823001 66842500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RHOD chr1 16682451 16684181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 66827527 66836649 Gain and loss Pancreatic cancer SNP array 17952125 RHOD chr11 66827577 66836646 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RHOD chr11 66827577 66836652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOD chr11 66827577 66836652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOD chr1 166838884 166840859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TADA1 chr1 166841322 166967709 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ILDR2,MAEL,TADA1 chr11 66842920 134431368 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACY3,ADAMTS15,ADAMTS8,ADRBK1,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD13D,ANKRD42,ANKRD49,ANO1,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARRB1,ATG16L2,ATM,ATP5L,B3GAT1,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf24,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,C2CD3,CABP2,CABP4,CADM1,CAPN5,CARD16,CARD17,CARD18,CARNS1,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CCND1,CD3D,CD3E,CD3G,CDK2AP2,CDON,CEP164,CEP57,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CLCF1,CLDN25,CLMP,CLNS1A,CLPB,CNTN5,CORO1B,CPT1A,CREBZF,CRTAM,CRYAB,CTSC,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DOC2GP,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FADD,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAT3,FCHSD2,FDX1,FDXACB1,FEZ1,FGF19,FGF3,FGF4,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GDPD4,GDPD5,GLB1L2,GLB1L3,GPR152,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INPPL1,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM2A,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LINC00167,LIPT2,LOC100128239,LOC100129216,LOC100130987,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRP5,LRRC32,LRTOMT,MAML2,MAP6,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR139,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548K,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL21,MRPL48,MSANTD2,MSANTD4,MTL5,MTMR2,MTNR1B,MYEOV,MYO7A,NAALAD2,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NUDT8,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDE2A,PDGFD,PDZD3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLEKHB1,POLD3,POLD4,POU2AF1,POU2F3,PPFIA1,PPME1,PPP1CA,PPP2R1B,PPP6R3,PRCP,PRDM10,PRKRIR,PRSS23,PTPRCAP,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RAB6A,RAD9A,RBM7,RDX,RELT,REXO2,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPS6KB2,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SERPINH1,SESN3,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SPCS2,SRPR,SRSF8,SSH3,ST14,ST3GAL4,STARD10,STT3A,SUV420H1,SYTL2,TAF1D,TAGLN,TBC1D10C,TBCEL,TBRG1,TBX10,TCIRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM134,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 66863079 66879107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 166866538 166881105 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 66875001 66993500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM2A chr11 66875597 66877593 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 66875597 66877593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66875597 66877593 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 66875597 66877593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 66879237 66993741 Loss Normal Birdsuite, version 1.5.2 22087296 KDM2A chr11 66886461 66886703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 66886461 66886755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66886461 66886784 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66888217 66897782 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66888219 66897782 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66888219 66897782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66888219 66897782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr1 166895471 166895568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ILDR2 chr1 16690067 16716473 Gain and loss Pancreatic cancer SNP array 17952125 SZRD1 chr1 16690447 16709877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SZRD1 chr11 66915999 66922437 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66915999 66922437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66915999 66922437 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66915999 66922437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66917963 66918063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM2A chr11 66919288 66919358 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66919288 66919358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66922227 66945230 Gain or loss Breast cancer - 20668451 KDM2A chr11 66922227 66945230 Gain or loss Cancer - 20668451 KDM2A chr11 66922227 66945230 Gain or loss Lung cancer - 20668451 KDM2A chr11 66922227 66945230 Gain or loss Ovarian cancer - 20668451 KDM2A chr11 66922227 66945230 Gain or loss Pancreas cancer - 20668451 KDM2A chr11 66922227 66945230 Gain or loss Prostate cancer - 20668451 KDM2A chr11 66922228 66925952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66922228 66925952 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66922228 66925952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66922248 66925978 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr1 166924841 166925838 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ILDR2 chr11 66927988 66934133 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66927988 66934133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66927988 66934133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66928176 66934130 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr1 166931331 166965052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ILDR2,MAEL chr1 166931331 166965052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ILDR2,MAEL chr1 16693206 17134834 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16693206 17148828 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16693433 17493433 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,MFAP2,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,PADI2,SDHB,SPATA21,SZRD1 chr11 6693722 6693930 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 66939721 66949652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66939721 66949652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66940243 66949652 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66940243 66949652 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 6694103 6724246 Gain and loss Pancreatic cancer SNP array 17952125 MRPL17 chr11 6694530 6697157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 166949808 166949898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 66952510 66959455 Gain or loss Breast cancer - 20668451 KDM2A chr11 66952510 66959455 Gain or loss Cancer - 20668451 KDM2A chr11 66952510 66959455 Gain or loss Lung cancer - 20668451 KDM2A chr11 66952510 66959455 Gain or loss Ovarian cancer - 20668451 KDM2A chr11 66952510 66959455 Gain or loss Pancreas cancer - 20668451 KDM2A chr11 66952510 66959455 Gain or loss Prostate cancer - 20668451 KDM2A chr11 66952511 66959454 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66952511 66959454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66952511 66959454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66952538 66959448 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66952782 66952827 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 KDM2A chr11 66959557 66961729 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66959557 66961729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66959557 66961729 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66959557 66961729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66962095 66967839 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66962095 66967839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66962095 66967839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66962102 66967542 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66964181 67560691 LOH Normal High-resolution SNP genotyping 21211785 ACY3,ADRBK1,AIP,ALDH3B2,ANKRD13D,CABP2,CABP4,CARNS1,CDK2AP2,CLCF1,CORO1B,DOC2GP,FAM86C2P,GPR152,GSTP1,KDM2A,LOC100130987,NDUFV1,NUDT8,PITPNM1,POLD4,PPP1CA,PTPRCAP,RAD9A,RPS6KB2,SSH3,TBC1D10C,TBX10,TMEM134 chr11 66975359 66976771 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66975359 66976771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66975359 66976771 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66975359 66976771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66976462 66983249 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 66979394 66983227 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66979394 66983227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66979394 66983227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr1 166983658 166983744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAEL chr11 66988397 66993319 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 66988397 66993319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66988397 66993319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 66988406 66993319 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr1 16698906 17124554 Copy number Rett syndrome References 21593744 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16698906 17124554 Duplication or deletion Rett syndrome References 21593744 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16700000 20500000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ARHGEF10L,ATP13A2,C1orf151-NBL1,CAPZB,CROCC,CROCCP2,CROCCP3,EMC1,ESPNP,HTR6,IFFO2,IGSF21,KLHDC7A,LOC100506730,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MST1P2,MST1P9,NBL1,NBPF1,NECAP2,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PQLC2,RCC2,RNF186,SDHB,SPATA21,SZRD1,TAS1R2,TMCO4,UBR4 chr1 16700031 17025222 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21,SZRD1 chr11 67003889 67033913 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADRBK1,KDM2A chr11 67007097 67015150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 67007097 67015150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 67007097 67015150 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 67007097 67015150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 67012501 67033000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM2A chr11 67015815 67029366 Gain and loss Pancreatic cancer SNP array 17952125 KDM2A chr11 67015816 67029412 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2A chr11 67015816 67029412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr11 67015816 67029412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2A chr1 167018922 167028981 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPA33 chr1 167018922 167032368 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPA33 chr1 167028062 167028162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPA33 chr11 67030545 67032678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 67030545 67032678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67030545 67032678 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 67030545 67032678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67032086 67032186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16703407 16965844 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CROCCP2,CROCCP3,MIR3675,NBPF1,NECAP2,SPATA21,SZRD1 chr1 167042614 167042714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPA33 chr11 67042994 67047475 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADRBK1 chr11 67042994 67047475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADRBK1 chr11 67042994 67047475 Gain and loss Pancreatic cancer SNP array 17952125 ADRBK1 chr11 67042994 67047475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADRBK1 chr1 16704450 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16705053 16957208 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,MIR3675,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16705053 17072708 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21,SZRD1 chr11 67077715 67077815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSH3 chr1 16707846 17074055 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21,SZRD1 chr11 67079398 67079483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSH3 chr11 67100000 69200000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ACY3,AIP,ALDH3B1,ALDH3B2,C11orf24,CABP2,CABP4,CARNS1,CDK2AP2,CHKA,CLCF1,CORO1B,CPT1A,DOC2GP,FAM86C2P,GAL,GPR152,GSTP1,IGHMBP2,LOC100130987,LRP5,MIR4691,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,NDUFS8,NDUFV1,NUDT8,PITPNM1,POLD4,PPP1CA,PPP6R3,PTPRCAP,RAD9A,RPS6KB2,SUV420H1,TBC1D10C,TBX10,TCIRG1,TMEM134,TPCN2,UNC93B1 chr11 67100000 69200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACY3,AIP,ALDH3B1,ALDH3B2,C11orf24,CABP2,CABP4,CARNS1,CDK2AP2,CHKA,CLCF1,CORO1B,CPT1A,DOC2GP,FAM86C2P,GAL,GPR152,GSTP1,IGHMBP2,LOC100130987,LRP5,MIR4691,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,NDUFS8,NDUFV1,NUDT8,PITPNM1,POLD4,PPP1CA,PPP6R3,PTPRCAP,RAD9A,RPS6KB2,SUV420H1,TBC1D10C,TBX10,TCIRG1,TMEM134,TPCN2,UNC93B1 chr11 67100000 69200000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ACY3,AIP,ALDH3B1,ALDH3B2,C11orf24,CABP2,CABP4,CARNS1,CDK2AP2,CHKA,CLCF1,CORO1B,CPT1A,DOC2GP,FAM86C2P,GAL,GPR152,GSTP1,IGHMBP2,LOC100130987,LRP5,MIR4691,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,NDUFS8,NDUFV1,NUDT8,PITPNM1,POLD4,PPP1CA,PPP6R3,PTPRCAP,RAD9A,RPS6KB2,SUV420H1,TBC1D10C,TBX10,TCIRG1,TMEM134,TPCN2,UNC93B1 chr11 67100000 70700000 Gain Glioblastoma multiforme aCGH 21080181 ACY3,AIP,ALDH3B1,ALDH3B2,ANO1,C11orf24,CABP2,CABP4,CARNS1,CCND1,CDK2AP2,CHKA,CLCF1,CORO1B,CPT1A,CTTN,DOC2GP,FADD,FAM86C2P,FGF19,FGF3,FGF4,GAL,GPR152,GSTP1,IGHMBP2,LOC100130987,LRP5,MIR4691,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,NDUFS8,NDUFV1,NUDT8,ORAOV1,PITPNM1,POLD4,PPFIA1,PPP1CA,PPP6R3,PTPRCAP,RAD9A,RPS6KB2,SHANK2,SHANK2-AS1,SUV420H1,TBC1D10C,TBX10,TCIRG1,TMEM134,TPCN2,UNC93B1 chr11 67100000 74900000 Amplification Ovarian clear cell carcinoma FISH 19293255 ACY3,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANO1,ARAP1,ARHGEF17,ATG16L2,C11orf24,C2CD3,CABP2,CABP4,CARNS1,CCND1,CDK2AP2,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CORO1B,CPT1A,CTTN,DEFB108B,DHCR7,DNAJB13,DOC2GP,FADD,FAM168A,FAM86C1,FAM86C2P,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAL,GPR152,GSTP1,IGHMBP2,IL18BP,INPPL1,KCNE3,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130987,LOC100133315,LRP5,LRTOMT,MIR139,MIR3165,MIR3664,MIR4691,MIR4692,MIR4696,MIR548K,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,NADSYN1,NDUFS8,NDUFV1,NEU3,NUDT8,NUMA1,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PITPNM1,PLEKHB1,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP6R3,PTPRCAP,RAB6A,RAD9A,RELT,RNF121,RNF169,RPS6KB2,SHANK2,SHANK2-AS1,SLCO2B1,SPCS2,STARD10,SUV420H1,TBC1D10C,TBX10,TCIRG1,TMEM134,TPCN2,UCP2,UCP3,UNC93B1,XRRA1 chr11 67100000 74900000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACY3,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANO1,ARAP1,ARHGEF17,ATG16L2,C11orf24,C2CD3,CABP2,CABP4,CARNS1,CCND1,CDK2AP2,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CORO1B,CPT1A,CTTN,DEFB108B,DHCR7,DNAJB13,DOC2GP,FADD,FAM168A,FAM86C1,FAM86C2P,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAL,GPR152,GSTP1,IGHMBP2,IL18BP,INPPL1,KCNE3,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130987,LOC100133315,LRP5,LRTOMT,MIR139,MIR3165,MIR3664,MIR4691,MIR4692,MIR4696,MIR548K,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,NADSYN1,NDUFS8,NDUFV1,NEU3,NUDT8,NUMA1,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PITPNM1,PLEKHB1,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP6R3,PTPRCAP,RAB6A,RAD9A,RELT,RNF121,RNF169,RPS6KB2,SHANK2,SHANK2-AS1,SLCO2B1,SPCS2,STARD10,SUV420H1,TBC1D10C,TBX10,TCIRG1,TMEM134,TPCN2,UCP2,UCP3,UNC93B1,XRRA1 chr11 67100000 76700000 Copy number Normal - 21701786 ACER3,ACY3,AIP,ALDH3B1,ALDH3B2,ANAPC15,ANO1,ARAP1,ARHGEF17,ARRB1,ATG16L2,C11orf24,C11orf30,C2CD3,CABP2,CABP4,CARNS1,CCND1,CDK2AP2,CHCHD8,CHKA,CHRDL2,CLCF1,CLPB,CORO1B,CPT1A,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,DOC2GP,FADD,FAM168A,FAM86C1,FAM86C2P,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAL,GDPD5,GPR152,GSTP1,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KCNE3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100130987,LOC100133315,LOC283214,LRP5,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4691,MIR4692,MIR4696,MIR548K,MOGAT2,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,NADSYN1,NDUFS8,NDUFV1,NEU3,NUDT8,NUMA1,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PITPNM1,PLEKHB1,POLD3,POLD4,PPFIA1,PPME1,PPP1CA,PPP6R3,PRKRIR,PTPRCAP,RAB6A,RAD9A,RELT,RNF121,RNF169,RPS3,RPS6KB2,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,SUV420H1,TBC1D10C,TBX10,TCIRG1,TMEM134,TPBGL,TPCN2,TSKU,UCP2,UCP3,UNC93B1,UVRAG,WNT11,XRRA1 chr11 67106475 67556502 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACY3,AIP,ALDH3B2,CABP2,CABP4,CARNS1,CDK2AP2,CLCF1,CORO1B,DOC2GP,GPR152,GSTP1,LOC100130987,NDUFV1,NUDT8,PITPNM1,POLD4,PPP1CA,PTPRCAP,RAD9A,RPS6KB2,TBC1D10C,TBX10,TMEM134 chr11 67107642 67110707 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100130987 chr11 67107642 67110707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130987 chr11 67107642 67110707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130987 chr11 67107859 67110699 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130987 chr11 67114709 67114798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100130987 chr1 16712315 16712405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SZRD1 chr1 16712588 17097274 Copy number Lung cancer paired-end sequencing 18438408 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr11 67126927 67130753 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100130987 chr11 67126927 67130753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130987 chr11 67126927 67130753 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130987 chr11 67126927 67130753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130987 chr1 167126953 167153621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 67128501 67176000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLCF1,LOC100130987,PPP1CA,RAD9A,TBC1D10C chr11 67130974 67136581 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLCF1,LOC100130987 chr11 67130974 67136581 Gain and loss Pancreatic cancer SNP array 17952125 CLCF1,LOC100130987 chr11 67130983 67136581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLCF1,LOC100130987 chr11 67130983 67136581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCF1,LOC100130987 chr1 16713204 16713367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SZRD1 chr1 167133998 167134301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67136884 67140280 Gain and loss Pancreatic cancer SNP array 17952125 CLCF1,LOC100130987 chr1 16715135 17083823 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr11 67151986 67153968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130987 chr11 67151986 67153968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130987 chr11 67151986 67153977 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100130987 chr11 67151986 67153977 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130987 chr11 67155129 67155184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100130987 chr11 67155351 67163607 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130987,RAD9A chr11 67155351 67163613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100130987,RAD9A chr11 67155351 67163613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130987,RAD9A chr11 67155351 67163613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130987,RAD9A chr11 67161777 67161870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD9A chr11 67164365 67164432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD9A chr11 67166603 67174706 Gain and loss Pancreatic cancer SNP array 17952125 PPP1CA,TBC1D10C chr11 67166605 67174706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1CA,TBC1D10C chr11 67166605 67174706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1CA,TBC1D10C chr11 67166605 67174706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1CA,TBC1D10C chr1 167167734 167167834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16717428 16722147 Gain and loss Pancreatic cancer SNP array 17952125 SZRD1 chr1 167174326 167174785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16717507 16878351 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP3,MIR3675,NECAP2,SPATA21,SZRD1 chr1 16717507 17134822 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16717507 17134822 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr11 67186001 67192500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CARNS1 chr11 67186210 67198678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CARNS1,RPS6KB2 chr11 67186210 67198678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARNS1,RPS6KB2 chr11 67186210 67198678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARNS1,RPS6KB2 chr11 67186210 67198753 Gain and loss Pancreatic cancer SNP array 17952125 CARNS1,RPS6KB2 chr1 16718622 16843031 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP3,NECAP2,SPATA21,SZRD1 chr1 16718622 17063437 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21,SZRD1 chr1 16719317 16719400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SZRD1 chr11 67221525 67221589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 67226187 67515627 Substitutions and indels small cell lung cancer array-CGH 20016488 ACY3,AIP,ALDH3B2,CABP2,CABP4,CDK2AP2,DOC2GP,GSTP1,NDUFV1,NUDT8,PITPNM1,TBX10,TMEM134 chr11 67232177 67488890 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACY3,AIP,ALDH3B2,CABP2,CDK2AP2,DOC2GP,GSTP1,NDUFV1,NUDT8,PITPNM1,TBX10,TMEM134 chr11 67232177 67493057 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACY3,AIP,ALDH3B2,CABP2,CDK2AP2,DOC2GP,GSTP1,NDUFV1,NUDT8,PITPNM1,TBX10,TMEM134 chr1 167232928 167254242 Gain and loss Pancreatic cancer SNP array 17952125 POU2F1 chr11 67233751 67240500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM134 chr1 167234942 167268627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POU2F1 chr11 67239223 67247590 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 67239223 67459491 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACY3,AIP,ALDH3B2,CABP2,CDK2AP2,DOC2GP,GSTP1,NDUFV1,NUDT8,PITPNM1,TBX10 chr1 16724089 16842753 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP3,NECAP2,SPATA21,SZRD1 chr1 16724089 16843031 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP3,NECAP2,SPATA21,SZRD1 chr1 16724089 16843031 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,NECAP2,SPATA21,SZRD1 chr1 16724089 17134822 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21,SZRD1 chr1 167245008 167605618 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CD247,CREG1,POU2F1,RCSD1 chr11 67246719 67247369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67247028 67499217 Gain and loss Pancreatic cancer SNP array 17952125 ACY3,AIP,ALDH3B2,CABP2,CDK2AP2,DOC2GP,GSTP1,NDUFV1,NUDT8,PITPNM1,TBX10 chr11 67247590 67254608 Loss Normal Birdsuite, version 1.5.2 22087296 AIP chr11 67250000 134240000 Loss Acute lymphoblastic leukemia - 21339820 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ACY3,ADAMTS15,ADAMTS8,AIP,ALDH3B1,ALDH3B2,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD42,ANKRD49,ANO1,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARRB1,ATG16L2,ATM,ATP5L,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf24,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,C2CD3,CABP2,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CCND1,CD3D,CD3E,CD3G,CDK2AP2,CDON,CEP164,CEP57,CHCHD8,CHEK1,CHKA,CHORDC1,CHRDL2,CLDN25,CLMP,CLNS1A,CLPB,CNTN5,CPT1A,CREBZF,CRTAM,CRYAB,CTSC,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DOC2GP,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FADD,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAM86C2P,FAT3,FCHSD2,FDX1,FDXACB1,FEZ1,FGF19,FGF3,FGF4,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GDPD4,GDPD5,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GSTP1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INPPL1,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LINC00167,LIPT2,LOC100128239,LOC100129216,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRP5,LRRC32,LRTOMT,MAML2,MAP6,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR139,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4691,MIR4692,MIR4693,MIR4696,MIR4697,MIR548K,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL21,MRPL48,MSANTD2,MSANTD4,MTL5,MTMR2,MTNR1B,MYEOV,MYO7A,NAALAD2,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NDUFS8,NDUFV1,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NUDT8,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDE2A,PDGFD,PDZD3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PITPNM1,PIWIL4,PKNOX2,PLEKHB1,POLD3,POU2AF1,POU2F3,PPFIA1,PPME1,PPP2R1B,PPP6R3,PRCP,PRDM10,PRKRIR,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RAB6A,RBM7,RDX,RELT,REXO2,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SERPINH1,SESN3,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SPCS2,SRPR,SRSF8,ST14,ST3GAL4,STARD10,STT3A,SUV420H1,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TBX10,TCIRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UNC93B1,UPK2,USP2,USP28,USP35,UVRAG,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 67250504 67258578 Amplification Pituitary adenoma SALSA Multiplex Ligation-dependent Probe Amplification assay 20530095 AIP chr1 16725060 17099300 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 1672531 1701368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NADK,SLC35E2 chr1 1672531 1701368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NADK,SLC35E2 chr11 67254608 67263973 Loss Normal Birdsuite, version 1.5.2 22087296 AIP,PITPNM1 chr11 67263404 68109828 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACY3,ALDH3B1,ALDH3B2,C11orf24,CABP2,CDK2AP2,CHKA,DOC2GP,FAM86C2P,GSTP1,LRP5,MIR4691,NDUFS8,NDUFV1,NUDT8,PITPNM1,SUV420H1,TBX10,TCIRG1,UNC93B1 chr1 16726346 16761746 Amplification or deletion Cancer Array CGH 17440070 SPATA21 chr11 67263973 67281769 Loss Normal Birdsuite, version 1.5.2 22087296 CDK2AP2,PITPNM1 chr1 167270838 167278445 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 POU2F1 chr1 167270951 167271957 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 POU2F1 chr1 167270983 167271853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POU2F1 chr11 67272339 67452222 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ACY3,ALDH3B2,CABP2,CDK2AP2,DOC2GP,GSTP1,NDUFV1,NUDT8,PITPNM1,TBX10 chr1 167274375 167274473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POU2F1 chr11 67281513 67616066 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACY3,ALDH3B2,CABP2,DOC2GP,FAM86C2P,GSTP1,NDUFV1,NUDT8,TBX10 chr11 67281769 67342760 Loss Normal Birdsuite, version 1.5.2 22087296 CABP2 chr1 167291364 167291533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POU2F1 chr1 16730240 17099300 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr11 67309318 67316349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16731116 17099300 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr11 67312196 67768260 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACY3,ALDH3B2,DOC2GP,FAM86C2P,GSTP1,NDUFV1,NUDT8,TBX10,UNC93B1 chr11 67315816 67329369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 67316223 67329361 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 67316223 67329361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67321001 67322000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 67322390 67484662 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ACY3,ALDH3B2,DOC2GP,GSTP1,NDUFV1,NUDT8,TBX10 chr11 67325181 67339503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 167328182 167468191 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD247,POU2F1 chr1 167340339 167340439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU2F1 chr1 167341559 167368584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POU2F1 chr1 167341559 167368584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POU2F1 chr11 67342760 67396131 Loss Normal Birdsuite, version 1.5.2 22087296 DOC2GP,GSTP1,NDUFV1,NUDT8 chr1 16734540 17083823 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 16734540 17111630 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 167345544 168436256 LOH Normal High-resolution SNP genotyping 21211785 ADCY10,ANKRD36BP1,CD247,CREG1,DCAF6,GPR161,LOC100505918,MIR557,MPC2,MPZL1,POU2F1,RCSD1,SFT2D2,TBX19,TIPRL chr11 67347432 67380406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GSTP1,NDUFV1 chr1 16734842 16737256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA21 chr11 67349871 67359963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GSTP1 chr1 167359501 169206400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCY10,ANKRD36BP1,ATP1B1,CD247,CREG1,DCAF6,DPT,GPR161,LINC00626,LOC100505918,MIR557,MPC2,MPZL1,NME7,POU2F1,RCSD1,SFT2D2,TBX19,TIPRL,XCL1,XCL2 chr1 167363981 167438638 Gain and loss Pancreatic cancer SNP array 17952125 CD247,POU2F1 chr11 67367400 67459594 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACY3,ALDH3B2,DOC2GP,NDUFV1,NUDT8,TBX10 chr1 167368399 167603810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD247,CREG1,POU2F1,RCSD1 chr1 167368399 167603810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD247,CREG1,POU2F1,RCSD1 chr11 67371844 67371942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 67379116 67379165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFV1 chr1 16738586 16738749 Gain and loss Pancreatic cancer SNP array 17952125 SPATA21 chr11 67396131 67419052 Loss Normal Birdsuite, version 1.5.2 22087296 ACY3,NUDT8,TBX10 chr11 67413614 67413688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACY3 chr11 67419052 67452222 Loss Normal Birdsuite, version 1.5.2 22087296 ALDH3B2 chr11 67419083 67419162 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 16741950 16758722 Gain Normal Birdsuite, version 1.5.2 22087296 SPATA21 chr11 67419678 67419784 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 67419678 67419784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 167426645 167426973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CD247 chr1 167433121 167433220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD247 chr1 16743853 16838364 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,NECAP2,SPATA21 chr1 16743853 16859426 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP3,NECAP2,SPATA21 chr1 16743853 16859426 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP3,NECAP2,SPATA21 chr1 16743853 16885360 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NECAP2,SPATA21 chr1 16743853 16890205 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP3,MIR3675,NECAP2,SPATA21 chr1 16743853 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NBPF1,NECAP2,SPATA21 chr1 16743853 16961924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,MIR3675,NBPF1,NECAP2,SPATA21 chr1 16743853 16987287 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21 chr1 16743853 17120973 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 16743853 17129892 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 16743853 17134822 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 16743853 17134822 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 16744804 16745313 Gain and loss Pancreatic cancer SNP array 17952125 SPATA21 chr11 67452222 67466368 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 67457261 67457409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6745814 6746764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6745814 6746764 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6745814 6746764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 167460455 167511132 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CD247,CREG1 chr1 167460455 167511132 Total allelic loss Normal High-resolution SNP genotyping 21211785 CD247,CREG1 chr1 167460455 167515155 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CD247,CREG1 chr1 167460455 167515155 Total allelic loss Normal High-resolution SNP genotyping 21211785 CD247,CREG1 chr11 67466368 67473926 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 16746747 16746819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA21 chr1 167470178 167508378 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CD247 chr1 167470178 167509013 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CD247 chr11 67473926 67488890 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 167476043 167476143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD247 chr1 16747733 16751613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA21 chr11 67479526 67480103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 167482723 167509013 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CD247 chr1 167482724 167509012 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CD247 chr1 167482724 167521488 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CD247,CREG1 chr1 16748601 17077500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21 chr1 167488547 167514350 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CREG1 chr1 167488767 167515635 Substitutions and indels small cell lung cancer array-CGH 20016488 CREG1 chr1 167489002 167489082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 67489920 67490274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 167493526 167507362 Loss Autism qPCR 20531469 NOT_FOUND chr1 167493568 167508098 Copy number Incontinentia Pigmenti Agilent SurePrint G5 one Million microarrays 22033527 NOT_FOUND chr1 167493797 167507911 Loss Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr1 167495768 167505182 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr1 167500586 167522014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CREG1 chr1 167500586 167538416 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CREG1 chr1 167500598 167508390 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 167505881 167506016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 67506335 67841141 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ALDH3B1,CHKA,FAM86C2P,MIR4691,NDUFS8,TCIRG1,UNC93B1 chr1 167508390 167523125 Loss Normal Birdsuite, version 1.5.2 22087296 CREG1 chr1 167511132 168410886 LOH Normal High-resolution SNP genotyping 21211785 ADCY10,ANKRD36BP1,CREG1,DCAF6,GPR161,LOC100505918,MIR557,MPC2,MPZL1,RCSD1,SFT2D2,TBX19,TIPRL chr11 67515150 67528169 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr11 67515151 67528169 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 67515151 67528169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67515151 67528169 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 67515151 67528169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67517501 67577500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM86C2P chr1 167523125 167524374 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 67524363 70973907 Substitutions and indels small cell lung cancer array-CGH 20016488 ALDH3B1,ANO1,C11orf24,CCND1,CHKA,CPT1A,CTTN,FADD,FAM86C2P,FGF19,FGF3,FGF4,GAL,IGHMBP2,LRP5,MIR3664,MIR4691,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,NDUFS8,ORAOV1,PPFIA1,PPP6R3,SHANK2,SHANK2-AS1,SUV420H1,TCIRG1,TPCN2,UNC93B1 chr1 167524383 182844003 Substitutions and indels small cell lung cancer array-CGH 20016488 ABL2,ACBD6,ADCY10,ANGPTL1,ANKRD36BP1,ANKRD45,ASTN1,ATP1B1,AXDND1,BLZF1,C1orf105,C1orf112,C1orf114,C1orf129,C1orf220,CACNA1E,CACYBP,CENPL,CEP350,DARS2,DCAF6,DHX9,DNM3,DNM3OS,DPT,F5,FAM163A,FAM20B,FAM5B,FASLG,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,GAS5,GAS5-AS1,GLUL,GM140,GORAB,GPR161,GPR52,IER5,KIAA0040,KIAA1614,KIFAP3,KLHL20,LHX4,LINC00272,LINC00626,LOC100505918,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC730102,LOC730159,METTL11B,METTL13,METTL18,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR4424,MIR488,MIR557,MPC2,MPZL1,MR1,MRPS14,MYOC,NME7,NPHS2,NPL,PAPPA2,PIGC,PRDX6,PRRC2C,PRRX1,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RCSD1,RFWD2,RGS16,RGS8,RGSL1,RNASEL,SCARNA3,SCYL3,SEC16B,SELE,SELL,SELP,SERPINC1,SFT2D2,SLC19A2,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,STX6,SUCO,TBX19,TDRD5,TEDDM1,TEX35,TIPRL,TNFSF18,TNFSF4,TNN,TNR,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,VAMP4,XCL1,XCL2,XPR1,ZBTB37,ZNF648 chr11 67525330 70964483 Microdeletion speech delay array-CGH 21373257 ALDH3B1,ANO1,C11orf24,CCND1,CHKA,CPT1A,CTTN,FADD,FAM86C2P,FGF19,FGF3,FGF4,GAL,IGHMBP2,LRP5,MIR3664,MIR4691,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,NDUFS8,ORAOV1,PPFIA1,PPP6R3,SHANK2,SHANK2-AS1,SUV420H1,TCIRG1,TPCN2,UNC93B1 chr1 16752544 16752615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA21 chr1 16752898 16870964 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP3,NECAP2,SPATA21 chr1 16752898 16870964 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP3,NECAP2,SPATA21 chr1 16752898 17088074 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 16752898 17229287 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr11 67534366 67552183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67534366 67552183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67534366 67553317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 67534398 67552719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16753519 17119163 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 16755182 16774976 Gain Normal TaqMan assays 20972442 NECAP2,SPATA21 chr11 67553830 74846976 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALDH3B1,ANAPC15,ANO1,ARAP1,ARHGEF17,ATG16L2,C11orf24,C2CD3,CCND1,CHCHD8,CHKA,CHRDL2,CLPB,CPT1A,CTTN,DEFB108B,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FAM86C2P,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAL,IGHMBP2,IL18BP,INPPL1,KCNE3,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LRP5,LRTOMT,MIR139,MIR3165,MIR3664,MIR4691,MIR4692,MIR4696,MIR548K,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,NADSYN1,NDUFS8,NEU3,NUMA1,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PPP6R3,RAB6A,RELT,RNF121,RNF169,SHANK2,SHANK2-AS1,SPCS2,STARD10,SUV420H1,TCIRG1,TPCN2,UCP2,UCP3,UNC93B1,XRRA1 chr11 67554669 67560690 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FAM86C2P chr11 67554670 67560686 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM86C2P chr11 67554670 67560686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM86C2P chr11 67554670 67560686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM86C2P chr11 67554685 67560690 Gain and loss Pancreatic cancer SNP array 17952125 FAM86C2P chr11 67563059 67574941 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM86C2P chr11 67563059 67574941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM86C2P chr11 67563059 67574941 Gain and loss Pancreatic cancer SNP array 17952125 FAM86C2P chr11 67563059 67574941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM86C2P chr1 16757422 16757856 Gain and loss Pancreatic cancer SNP array 17952125 SPATA21 chr1 16757426 17025281 Loss or gain Normal 244K array 17666407 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21 chr11 67576904 67645434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 67576926 67645434 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 67576926 67645434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67576926 67645434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67577501 67644500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 67577612 79667232 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACER3,ALDH3B1,ALG8,ANAPC15,ANO1,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf24,C11orf30,C11orf67,C2CD3,CAPN5,CCND1,CHCHD8,CHKA,CHRDL2,CLNS1A,CLPB,CPT1A,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAB2,GAL,GDPD4,GDPD5,GUCY2EP,IGHMBP2,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRP5,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4691,MIR4692,MIR4696,MIR548K,MIR5579,MIR708,MOGAT2,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,MYO7A,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NDUFS8,NEU3,NUMA1,ODZ4,OMP,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PPP6R3,PRKRIR,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,SUV420H1,TCIRG1,THRSP,TPBGL,TPCN2,TSKU,UCP2,UCP3,UNC93B1,USP35,UVRAG,WNT11,XRRA1 chr1 16758001 16763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPATA21 chr1 16758194 17121984 Copy number Lung cancer paired-end sequencing 18438408 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,SPATA21 chr1 16758710 16859426 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP3,NECAP2,SPATA21 chr1 16758710 16859426 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP3,NECAP2,SPATA21 chr1 16758710 16890205 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP3,MIR3675,NECAP2,SPATA21 chr1 16758710 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NBPF1,NECAP2,SPATA21 chr1 16758710 16961924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,MIR3675,NBPF1,NECAP2,SPATA21 chr1 16758710 16987209 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21 chr1 16758710 17050540 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1,NECAP2,SPATA21 chr1 16758722 16768214 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NECAP2,SPATA21 chr1 16758739 16878452 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 CROCCP3,MIR3675,NECAP2,SPATA21 chr1 167603241 167839269 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCY10,MPZL1,RCSD1 chr1 167603241 168909523 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCY10,ANKRD36BP1,DCAF6,DPT,GPR161,LINC00626,LOC100505918,MIR557,MPC2,MPZL1,RCSD1,SFT2D2,TBX19,TIPRL,XCL1,XCL2 chr1 167603818 167632402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCSD1 chr1 167603818 167632402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCSD1 chr1 167619448 167619522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCSD1 chr11 6762034 6762134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 6762845 6763795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6762845 6763795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6762920 6763747 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16762999 16812569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CROCCP3,NECAP2,SPATA21 chr1 16763001 16766500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPATA21 chr1 16763021 16791958 Gain and loss Pancreatic cancer SNP array 17952125 NECAP2,SPATA21 chr1 167630732 167663294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCSD1 chr1 167630732 167663294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCSD1 chr1 167636331 167704914 Gain and loss Pancreatic cancer SNP array 17952125 MPZL1,RCSD1 chr11 67638549 67648069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 67644501 67653000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 167646137 167646229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCSD1 chr1 16766501 16818000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CROCCP3,NECAP2 chr11 67678501 67736500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 67680083 67737360 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 67680083 67737360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 67680083 67737871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67680083 67737871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16768214 16840712 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CROCCP3,NECAP2 chr1 16768214 16955178 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CROCCP2,CROCCP3,MIR3675,NBPF1,NECAP2 chr1 167699771 167721865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPZL1 chr1 167699771 167721865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPZL1 chr1 167699896 167704631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MPZL1 chr1 167709596 167712309 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 MPZL1 chr1 167709925 167710023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPZL1 chr11 67719235 68639808 LOH Normal High-resolution SNP genotyping 21211785 ALDH3B1,C11orf24,CHKA,CPT1A,GAL,LRP5,MIR4691,MTL5,NDUFS8,PPP6R3,SUV420H1,TCIRG1,UNC93B1 chr1 167722004 167723470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPZL1 chr11 6772532 6773515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6772532 6773515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6772532 6773515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 167738539 167738639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MPZL1 chr1 167742124 168506636 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADCY10,ANKRD36BP1,DCAF6,GPR161,LOC100505918,MIR557,MPC2,MPZL1,SFT2D2,TBX19,TIPRL chr1 167747816 167822393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY10,MPZL1 chr1 167747816 167822393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY10,MPZL1 chr11 67755619 67756028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 67755619 67756028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67763824 67763924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC93B1 chr1 16776422 16776471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NECAP2 chr11 67768260 68936924 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALDH3B1,C11orf24,CHKA,CPT1A,GAL,IGHMBP2,LRP5,MIR4691,MRGPRD,MRGPRF,MRPL21,MTL5,NDUFS8,PPP6R3,SUV420H1,TCIRG1,TPCN2,UNC93B1 chr11 67778735 68585859 LOH Normal High-resolution SNP genotyping 21211785 ALDH3B1,C11orf24,CHKA,CPT1A,GAL,LRP5,MIR4691,MTL5,NDUFS8,PPP6R3,SUV420H1,TCIRG1 chr11 67781001 67786500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH3B1 chr1 167784363 167785336 Gain and loss Pancreatic cancer SNP array 17952125 ADCY10 chr11 67785383 67795997 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALDH3B1 chr11 67785383 67795997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH3B1 chr11 67785383 67795997 Gain and loss Pancreatic cancer SNP array 17952125 ALDH3B1 chr11 67785383 67795997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH3B1 chr1 167791694 167818617 Gain and loss Pancreatic cancer SNP array 17952125 ADCY10 chr11 67795754 68411981 Copy number Lung cancer paired-end sequencing 18438408 ALDH3B1,C11orf24,CHKA,LRP5,MIR4691,NDUFS8,PPP6R3,SUV420H1,TCIRG1 chr1 167803937 167803977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY10 chr1 167820790 167893026 Amplification or deletion Cancer Array CGH 17440070 ADCY10,MPC2 chr1 16782184 16885360 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NECAP2 chr1 16782184 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NBPF1,NECAP2 chr1 16782184 16961924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,CROCCP3,MIR3675,NBPF1,NECAP2 chr1 167824661 167866004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY10 chr1 167824661 167866004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY10 chr11 67836677 67973301 Gain and loss Pancreatic cancer SNP array 17952125 CHKA,SUV420H1 chr11 67836683 67973319 Gain or loss Breast cancer - 20668451 CHKA,SUV420H1 chr11 67836683 67973319 Gain or loss Cancer - 20668451 CHKA,SUV420H1 chr11 67836683 67973319 Gain or loss Lung cancer - 20668451 CHKA,SUV420H1 chr11 67836683 67973319 Gain or loss Ovarian cancer - 20668451 CHKA,SUV420H1 chr11 67836683 67973319 Gain or loss Pancreas cancer - 20668451 CHKA,SUV420H1 chr11 67836683 67973319 Gain or loss Prostate cancer - 20668451 CHKA,SUV420H1 chr11 67836684 67973315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHKA,SUV420H1 chr11 67836684 67973315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHKA,SUV420H1 chr11 67836684 67973315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHKA,SUV420H1 chr11 67838472 68350137 LOH Normal High-resolution SNP genotyping 21211785 C11orf24,CHKA,LRP5,PPP6R3,SUV420H1 chr11 67838472 68558672 LOH Normal High-resolution SNP genotyping 21211785 C11orf24,CHKA,CPT1A,GAL,LRP5,MTL5,PPP6R3,SUV420H1 chr1 167839009 167862193 Gain and loss Pancreatic cancer SNP array 17952125 ADCY10 chr1 16787980 16825950 Gain Normal TaqMan assays 20972442 CROCCP3 chr1 167886116 167911682 Gain and loss Pancreatic cancer SNP array 17952125 DCAF6,MPC2 chr1 167897868 168088853 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 DCAF6,GPR161,MPC2 chr1 167926434 167947461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF6 chr1 167926434 167947461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF6 chr1 167926518 167926725 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DCAF6 chr11 67939670 67939979 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUV420H1 chr1 167949321 167986774 Gain and loss Pancreatic cancer SNP array 17952125 DCAF6 chr1 167954705 167954819 Gain and loss Pancreatic cancer SNP array 17952125 DCAF6 chr1 167958406 167969831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF6 chr1 167958406 167969831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF6 chr1 167967299 167967478 Gain and loss Pancreatic cancer SNP array 17952125 DCAF6 chr1 16797028 17135135 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16797367 16797439 Gain and loss Pancreatic cancer SNP array 17952125 CROCCP3 chr1 16797817 16820565 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CROCCP3 chr11 67984192 67984263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 67984192 67984263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 67984775 68139373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C11orf24,LRP5 chr11 67984775 68139373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf24,LRP5 chr11 67984775 68139373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf24,LRP5 chr11 67984857 68139296 Gain and loss Pancreatic cancer SNP array 17952125 C11orf24,LRP5 chr11 67986001 68162000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf24,LRP5 chr1 167986802 167987124 Gain Normal 244K array 17666407 DCAF6 chr1 16798723 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NBPF1 chr1 16801095 16840107 Substitutions and indels small cell lung cancer array-CGH 20016488 CROCCP3 chr1 16801328 16830348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CROCCP3 chr1 168015031 168042880 Gain and loss Pancreatic cancer SNP array 17952125 DCAF6 chr11 68028012 68028112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 168028294 168030731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF6 chr1 168028294 168030731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF6 chr11 68029616 68029695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf24 chr11 68030127 68030210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf24 chr1 168030851 168088853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF6,GPR161 chr1 168030851 168088853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF6,GPR161 chr1 168031174 168088853 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 DCAF6,GPR161 chr1 16803904 16909672 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NBPF1 chr1 16803904 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NBPF1 chr1 16803904 16983871 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CROCCP2,CROCCP3,MIR3675,MST1P2,NBPF1 chr1 16803904 17050540 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1 chr1 16805753 16806262 Gain and loss Pancreatic cancer SNP array 17952125 CROCCP3 chr11 68067646 68096718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRP5 chr1 168067927 168068027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR161 chr11 68071140 68457277 Gain small cell lung cancer Real-time Quantitative PCR 17426248 GAL,LRP5,PPP6R3 chr1 16808531 16921054 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP3,MIR3675,NBPF1 chr1 16808531 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP3,MIR3675,NBPF1 chr1 168086174 168086274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR161 chr1 168088839 168129670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR161 chr1 168088839 168129670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR161 chr1 168095521 168095814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR161 chr1 168095526 168095817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR161 chr11 68100000 70400000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,LRP5,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,PPP6R3,SHANK2,TPCN2 chr11 68109828 69420420 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CPT1A,GAL,IGHMBP2,LRP5,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,PPP6R3,TPCN2 chr1 168116140 168116377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 168119445 168119547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 168119446 168119547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16812317 16812480 Gain and loss Pancreatic cancer SNP array 17952125 CROCCP3 chr11 68129639 134437143 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ADAMTS15,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD42,ANKRD49,ANO1,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARRB1,ATG16L2,ATM,ATP5L,B3GAT1,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,C2CD3,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CCND1,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHCHD8,CHEK1,CHORDC1,CHRDL2,CLDN25,CLMP,CLNS1A,CLPB,CNTN5,CPT1A,CREBZF,CRTAM,CRYAB,CTSC,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FADD,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAT3,FCHSD2,FDX1,FDXACB1,FEZ1,FGF19,FGF3,FGF4,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GAL,GDPD4,GDPD5,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGHMBP2,IGSF9B,IL10RA,IL18,IL18BP,INPPL1,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LINC00167,LIPT2,LOC100128239,LOC100129216,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRP5,LRRC32,LRTOMT,MAML2,MAP6,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR139,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4692,MIR4693,MIR4696,MIR4697,MIR548K,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRGPRD,MRGPRF,MRPL21,MRPL48,MSANTD2,MSANTD4,MTL5,MTMR2,MTNR1B,MYEOV,MYO7A,NAALAD2,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDE2A,PDGFD,PDZD3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PIWIL4,PKNOX2,PLEKHB1,POLD3,POU2AF1,POU2F3,PPFIA1,PPME1,PPP2R1B,PPP6R3,PRCP,PRDM10,PRKRIR,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RAB6A,RBM7,RDX,RELT,REXO2,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SERPINH1,SESN3,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SPCS2,SRPR,SRSF8,ST14,ST3GAL4,STARD10,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TPCN2,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UPK2,USP2,USP28,USP35,UVRAG,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 168145316 168145544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 68145637 68145712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP5 chr1 168157091 168310503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36BP1,SFT2D2,TBX19,TIPRL chr1 168157091 168310503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36BP1,SFT2D2,TBX19,TIPRL chr11 68164000 69500000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 CCND1,CPT1A,GAL,IGHMBP2,LRP5,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPP6R3,TPCN2 chr1 16817339 16829988 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 CROCCP3 chr1 16817340 16830035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CROCCP3 chr1 16817340 16830035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CROCCP3 chr11 68174928 68175207 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 LRP5 chr1 16818001 16843500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CROCCP3 chr1 168182704 168182805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 168186324 168294307 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD36BP1,SFT2D2,TBX19 chr11 68186386 70325025 Deletion Glioblastoma multiforme 244K oligo array 21138945 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,LRP5,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,PPP6R3,SHANK2,TPCN2 chr11 68186386 70325025 Gain Glioblastoma multiforme 244K oligo array 21138945 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,LRP5,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,PPP6R3,SHANK2,TPCN2 chr1 168193211 168193500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 168193707 168194010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 168193709 168194011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6819493 6819593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 68199025 81486512 Duplication Cancer CGH 22183965 ACER3,ALG8,ANAPC15,ANO1,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C2CD3,CAPN5,CCND1,CHCHD8,CHRDL2,CLNS1A,CLPB,CPT1A,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAB2,GAL,GDPD4,GDPD5,GUCY2EP,IGHMBP2,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRP5,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MIR548K,MIR5579,MIR708,MOGAT2,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,MYO7A,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NUMA1,ODZ4,OMP,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PPP6R3,PRKRIR,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,THRSP,TPBGL,TPCN2,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr11 68199025 81486512 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 ACER3,ALG8,ANAPC15,ANO1,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C2CD3,CAPN5,CCND1,CHCHD8,CHRDL2,CLNS1A,CLPB,CPT1A,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAB2,GAL,GDPD4,GDPD5,GUCY2EP,IGHMBP2,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRP5,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MIR548K,MIR5579,MIR708,MOGAT2,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,MYO7A,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NUMA1,ODZ4,OMP,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PPP6R3,PRKRIR,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,THRSP,TPBGL,TPCN2,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr1 16820125 17140977 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr11 68208559 68215219 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRP5 chr11 68208559 68215219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP5 chr11 68208559 68215219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP5 chr11 68208602 68215218 Gain and loss Pancreatic cancer SNP array 17952125 LRP5 chr1 168212997 168213081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 168220613 168220709 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 168220613 168220716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 168225832 168225960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 68231484 68275564 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP6R3 chr11 68231484 68275564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP6R3 chr11 68231484 68275564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP6R3 chr11 68231486 68275578 Gain and loss Pancreatic cancer SNP array 17952125 PPP6R3 chr11 6823459 6824503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6823459 6824503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6823490 6824443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16823611 17147676 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 168245542 168278989 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TBX19 chr1 168257341 168257441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBX19 chr1 168257592 168257995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX19 chr11 68263776 68263934 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 PPP6R3 chr1 16826711 16830673 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 68278666 68365881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP6R3 chr11 68278666 68365881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP6R3 chr11 68278666 68365881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP6R3 chr11 68278934 68365960 Gain and loss Pancreatic cancer SNP array 17952125 PPP6R3 chr1 16828752 16843765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16828752 16843765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16830017 17142373 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 168312791 168312873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 68323054 69297218 Gain Bladder cancer array-CGH 21909424 CPT1A,GAL,IGHMBP2,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,PPP6R3,TPCN2 chr11 68328171 68328261 Gain and loss Pancreatic cancer SNP array 17952125 PPP6R3 chr11 68328171 68328294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP6R3 chr11 68334706 68360294 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP6R3 chr1 168336216 168353468 Gain and loss Pancreatic cancer SNP array 17952125 MIR557 chr1 16834162 16855541 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr11 68347506 70765491 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR3664,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,PPP6R3,SHANK2,SHANK2-AS1,TPCN2 chr1 168351401 168352330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 68354702 68354802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP6R3 chr11 6836001 6839600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 68363512 68363612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP6R3 chr1 168371312 168371715 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505918 chr1 168374406 169845155 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP1B1,BLZF1,C1orf112,C1orf114,DPT,F5,LINC00626,LOC100505918,METTL18,NME7,SCYL3,SELE,SELL,SELP,SLC19A2,XCL1,XCL2 chr11 68379175 68379275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP6R3 chr11 6838114 6838564 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 168381873 168403501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505918 chr1 168384337 168385235 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505918 chr11 68400000 70400000 Amplification Breast cancer 32K, 33K and 38K array-based CGH 20459607 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,SHANK2,TPCN2 chr11 68400000 70400000 Amplification Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,SHANK2,TPCN2 chr11 68400000 70400000 Amplification Human papillomavirus FISH 17975027 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,SHANK2,TPCN2 chr11 68400000 70400000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,SHANK2,TPCN2 chr11 68400000 70400000 Deletion Adenoid cystic carcinoma Array CGH 18698036 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,SHANK2,TPCN2 chr11 68400000 70400000 Gain Esophageal squamous carcinoma Array CGH 17470683 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,SHANK2,TPCN2 chr11 68400000 70400000 Gain Salivary gland adenoid cystic carcinoma Genome-wide scanning BAC array 17545515 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,SHANK2,TPCN2 chr11 68400000 70400000 Loss Primary mediastinal b-cell lymphoma Array CGH 17728785 ANO1,CCND1,CPT1A,CTTN,FADD,FGF19,FGF3,FGF4,GAL,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,PPFIA1,SHANK2,TPCN2 chr11 68400000 75200000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ANAPC15,ANO1,ARAP1,ARHGEF17,ARRB1,ATG16L2,C2CD3,CCND1,CHCHD8,CHRDL2,CLPB,CPT1A,CTTN,DEFB108B,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAL,GDPD5,IGHMBP2,IL18BP,INPPL1,KCNE3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MIR548K,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,NADSYN1,NEU3,NUMA1,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,RAB6A,RELT,RNF121,RNF169,RPS3,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,TPBGL,TPCN2,UCP2,UCP3,XRRA1 chr11 68400000 75200000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 ANAPC15,ANO1,ARAP1,ARHGEF17,ARRB1,ATG16L2,C2CD3,CCND1,CHCHD8,CHRDL2,CLPB,CPT1A,CTTN,DEFB108B,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAL,GDPD5,IGHMBP2,IL18BP,INPPL1,KCNE3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MIR548K,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,NADSYN1,NEU3,NUMA1,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,RAB6A,RELT,RNF121,RNF169,RPS3,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,TPBGL,TPCN2,UCP2,UCP3,XRRA1 chr11 68400386 68421311 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 168400967 168442871 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 68404765 68418923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 16840700 16987287 Deletion Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,MIR3675,MST1P2,NBPF1 chr1 16840712 16884097 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MIR3675 chr11 68415323 68427879 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 68415323 68427879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 68415323 68427879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 68415323 68427879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 68420133 68420233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 168422375 168456812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 68427468 69488756 Copy number Lung cancer paired-end sequencing 18438408 CCND1,CPT1A,GAL,IGHMBP2,MRGPRD,MRGPRF,MRPL21,MTL5,MYEOV,ORAOV1,TPCN2 chr11 68427895 68464645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GAL chr11 68427895 68464645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAL chr11 68427895 68464645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAL chr11 68427927 68464643 Gain and loss Pancreatic cancer SNP array 17952125 GAL chr1 16843501 16849000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 16843841 16849428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 68441001 68455000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GAL chr1 16844655 16849501 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 168446775 168447222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 168462871 168463322 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6847520 6848473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6847520 6848473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6847520 6848473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 168482479 168498514 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 68483419 76964746 Amplification Breast cancer Array CGH 16620391 ACER3,ANAPC15,ANO1,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C2CD3,CAPN5,CCND1,CHCHD8,CHRDL2,CLPB,CPT1A,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GDPD4,GDPD5,GUCY2EP,IGHMBP2,IL18BP,INPPL1,KCNE3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MIR548K,MOGAT2,MRGPRD,MRGPRF,MRPL21,MRPL48,MTL5,MYEOV,MYO7A,NADSYN1,NEU3,NUMA1,OMP,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PRKRIR,RAB6A,RELT,RNF121,RNF169,RPS3,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,TPBGL,TPCN2,TSKU,UCP2,UCP3,UVRAG,WNT11,XRRA1 chr1 168484662 168484762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 168488718 168488818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16849001 16890000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3675 chr11 68495324 68495424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTL5 chr11 684984 694129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEAF1 chr11 684984 694129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEAF1 chr11 68504066 68505031 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MTL5 chr11 68504066 68505031 Amplification T-cell lymphomas Array-CGH 22341440 MTL5 chr11 68504066 68505031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTL5 chr11 68504066 68505031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTL5 chr11 68504066 68505694 Gain and loss Pancreatic cancer SNP array 17952125 MTL5 chr1 168504280 168504756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 168506636 169598796 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP1B1,BLZF1,C1orf114,DPT,F5,LINC00626,NME7,SELP,SLC19A2,XCL1,XCL2 chr1 168515326 168515420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 68520000 69360000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 CPT1A,IGHMBP2,MRGPRD,MRGPRF,MRPL21,MYEOV,TPCN2 chr1 168521167 169642124 LOH Normal High-resolution SNP genotyping 21211785 ATP1B1,BLZF1,C1orf114,DPT,F5,LINC00626,NME7,SELP,SLC19A2,XCL1 chr11 68521674 68521762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 168525423 168525758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 68528439 68537426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPT1A chr11 68528439 68537426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPT1A chr11 68528443 68537311 Gain and loss Pancreatic cancer SNP array 17952125 CPT1A chr11 68528476 68537387 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPT1A chr1 168542295 169113513 Gain and loss Pancreatic cancer SNP array 17952125 ATP1B1,DPT,LINC00626,NME7,XCL1 chr11 6854428 6855402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6854428 6855402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6854455 6855402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16855269 16994786 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 CROCCP2,MIR3675,MST1P2,NBPF1 chr11 68554199 68554298 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPT1A chr11 68556177 68556264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPT1A chr1 168567588 168567688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 168572473 168606086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 68572926 68614648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPT1A chr11 68572926 68614648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPT1A chr11 68572941 68612568 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPT1A chr11 68572941 68612568 Gain and loss Pancreatic cancer SNP array 17952125 CPT1A chr1 16859426 17134822 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16859426 17134822 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 168604988 168606132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 68614612 68950213 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 IGHMBP2,MRGPRD,MRGPRF,MRPL21,TPCN2 chr11 68616470 68616520 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 16861959 29150031 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTL8,AHDC1,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARID1A,ASAP3,ATP13A2,ATPIF1,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,DDOST,DHDDS,DNAJC8,E2F2,ECE1,EIF4G3,EMC1,EPHA8,EPHB2,ESPNP,EXTL1,EYA3,FAM110D,FAM43B,FAM46B,FAM54B,FAM76A,FCN3,FGR,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPG2,HTR1D,HTR6,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MED18,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NIPAL3,NR0B2,NUDC,OPRD1,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PHACTR4,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PPP1R8,PQLC2,PTAFR,RAB42,RAP1GAP,RCAN3,RCAN3AS,RCC1,RCC2,RHCE,RHD,RNF186,RNU11,RPA2,RPL11,RPS6KA1,RUNX3,SCARNA1,SDHB,SEPN1,SESN2,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRRM1,SRSF10,STMN1,STPG1,STX12,SYF2,SYTL1,TAF12,TAS1R2,TCEA3,TCEB3,THEMIS2,TMCO4,TMEM222,TMEM50A,TMEM57,TRIM63,TRNAU1AP,TRNP1,UBR4,UBXN10,UBXN11,USP48,VWA5B1,WASF2,WDTC1,WNT4,XKR8,YTHDF2,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr11 68626681 69411832 Amplification Breast cancer Illumina high-density SNP arrays 18852474 IGHMBP2,MRGPRD,MRGPRF,MRPL21,MYEOV,TPCN2 chr1 168637406 168649848 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 68654476 70150073 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ANO1,CCND1,FADD,FGF19,FGF3,FGF4,IGHMBP2,MIR548K,MRGPRD,MRGPRF,MRPL21,MYEOV,ORAOV1,PPFIA1,TPCN2 chr11 68658403 68658513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16865867 16866030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 168663878 168663978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 68668264 68680006 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 IGHMBP2,MRPL21 chr11 6869380 6870307 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 6869380 6870307 Gain or loss Cancer - 20668451 NOT_FOUND chr11 6869380 6870307 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 6869380 6870307 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 6869380 6870307 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 6869380 6870307 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 6869381 6870307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6869381 6870307 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 6869381 6870307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 68706481 68723072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGHMBP2 chr1 168720505 168720600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16872085 16872594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 168729108 168774008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00626 chr1 168750353 168750453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1687509 1687604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NADK chr11 68753086 69985447 Amplification Esophageal cancer affymetrix genechip human mapping 257K Nsp arrays 21851588 ANO1,CCND1,FGF19,FGF3,FGF4,MRGPRF,MYEOV,ORAOV1,TPCN2 chr11 68754003 68789107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRGPRF chr1 168760471 168760571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00626 chr1 168767893 168789208 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 168767894 168789208 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 168767894 168789208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 168767894 168789208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6878173 6878205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16878309 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NBPF1 chr1 16878309 16961924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,NBPF1 chr1 16878309 17134822 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16878321 17133850 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr11 68785126 68785226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16878565 16987014 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CROCCP2,MST1P2,NBPF1 chr1 16880138 17147676 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16880138 17147676 Copy number gain Normal High-resolution SNP genotyping 21211785 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16880275 27944576 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ACTL8,AHDC1,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARID1A,ASAP3,ATP13A2,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLIC4,CNKSR1,CNR2,CROCC,CROCCP2,DDOST,DHDDS,E2F2,ECE1,EIF4G3,EMC1,EPHA8,EPHB2,ESPNP,EXTL1,FAM110D,FAM43B,FAM46B,FAM54B,FCN3,FGR,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPG2,HTR1D,HTR6,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NIPAL3,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PQLC2,RAP1GAP,RCAN3,RCAN3AS,RCC2,RHCE,RHD,RNF186,RPL11,RPS6KA1,RUNX3,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,TAS1R2,TCEA3,TCEB3,TMCO4,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBR4,UBXN10,UBXN11,USP48,VWA5B1,WASF2,WDTC1,WNT4,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 16881540 17155826 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr11 68818198 68821329 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TPCN2 chr11 68818198 68821329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPCN2 chr11 68818198 68821329 Gain and loss Pancreatic cancer SNP array 17952125 TPCN2 chr11 68818198 68821329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPCN2 chr11 68821295 76374295 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ANAPC15,ANO1,ARAP1,ARHGEF17,ARRB1,ATG16L2,C11orf30,C2CD3,CCND1,CHCHD8,CHRDL2,CLPB,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GDPD5,IL18BP,INPPL1,KCNE3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MIR548K,MOGAT2,MRPL48,MYEOV,NADSYN1,NEU3,NUMA1,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PRKRIR,RAB6A,RELT,RNF121,RNF169,RPS3,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,TPBGL,TPCN2,UCP2,UCP3,UVRAG,WNT11,XRRA1 chr11 68834611 68835103 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 TPCN2 chr1 168839595 168839704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16884025 16921054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NBPF1 chr1 16884025 16987287 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,MST1P2,NBPF1 chr1 16884025 17063437 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 chr1 16884025 17097545 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16884025 17097800 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16884025 17130518 Deletion Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16884025 17131638 Deletion Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16884025 17134822 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16884025 17134822 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16884097 16890117 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 168845332 168845441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16884624 16891968 Gain Normal TaqMan assays 20972442 NBPF1 chr1 16884703 16885137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16884703 16885137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1688528 1688578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NADK chr1 16885316 17112042 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 168859933 168864701 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 16886421 16919239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF1 chr1 16886421 16919239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF1 chr1 168872643 168872712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 168884292 168885148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 16888752 17134822 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16889448 16921459 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NBPF1 chr1 168895486 168895586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 168899936 168975165 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 168899936 168975165 Gain or loss Cancer - 20668451 NOT_FOUND chr1 168899936 168975165 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 168899936 168975165 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 168899936 168975165 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 168899936 168975165 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 168899937 168975165 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 168899937 168975165 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr1 168899937 168975165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 168899937 168975165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16890001 16898000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NBPF1 chr1 168900 170100 Copy number Lymphoma KC-SMARTR 21070656 NOT_FOUND chr1 16890105 16918336 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NBPF1 chr1 16890117 16894856 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NBPF1 chr1 16890118 16955000 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CROCCP2,NBPF1 chr1 16890299 16919239 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NBPF1 chr1 16891008 16926528 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NBPF1 chr11 68924361 69319751 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 MYEOV chr11 68930000 70160000 Gain Ductal carcinoma SNP array 22052326 ANO1,CCND1,FADD,FGF19,FGF3,FGF4,MIR548K,MYEOV,ORAOV1,PPFIA1 chr11 68936924 70276612 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANO1,CCND1,CTTN,FADD,FGF19,FGF3,FGF4,MIR548K,MYEOV,ORAOV1,PPFIA1 chr11 68946373 68946447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16894856 16949054 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CROCCP2,NBPF1 chr1 16894856 17050540 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 chr1 16894856 17134822 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 16894856 17134822 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr11 68969326 68969385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 68970345 69253791 Amplification Breast cancer FISH 17142309 MYEOV chr1 16898001 16901000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NBPF1 chr11 6898809 6899801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10A4 chr11 6898809 6899801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10A4 chr11 6898857 6899801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1 6900000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr1 16901001 16919500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NBPF1 chr1 16902167 17050540 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 chr1 16902167 17134822 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 169029240 169029335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 69030220 69030519 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NOT_FOUND chr1 169040000 169040080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1690418 1690450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NADK chr11 6904230 6962045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR2D2,OR2D3,ZNF215 chr11 6904230 6962045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR2D2,OR2D3,ZNF215 chr11 6904230 6962439 Gain and loss Pancreatic cancer SNP array 17952125 OR2D2,OR2D3,ZNF215 chr11 69047629 69047661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16905390 16914438 Gain Normal TaqMan assays 20972442 NBPF1 chr1 169055220 169066243 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 69063232 69063535 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 MYEOV chr1 169067337 169067443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16907795 17050540 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 chr1 16907795 17063437 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 chr1 16907795 17134822 Duplication Normal Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr1 169084144 169128734 Copy number Lung cancer paired-end sequencing 18438408 ATP1B1,NME7 chr1 169086576 169118461 Copy number Lung cancer paired-end sequencing 18438408 ATP1B1,NME7 chr1 169094416 169094538 Gain and loss Pancreatic cancer SNP array 17952125 ATP1B1 chr11 69098089 69278404 Amplification Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr1 169099466 169845155 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP1B1,BLZF1,C1orf112,C1orf114,F5,METTL18,NME7,SCYL3,SELE,SELL,SELP,SLC19A2 chr1 169100000 171200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP1B1,BLZF1,C1orf112,C1orf114,C1orf129,F5,FMO2,FMO3,FMO6P,GORAB,KIFAP3,LOC284688,METTL11B,METTL18,MIR1295A,MIR1295B,MIR3119-1,MIR3119-2,NME7,PRRX1,SCYL3,SELE,SELL,SELP,SLC19A2 chr1 169100000 171200000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ATP1B1,BLZF1,C1orf112,C1orf114,C1orf129,F5,FMO2,FMO3,FMO6P,GORAB,KIFAP3,LOC284688,METTL11B,METTL18,MIR1295A,MIR1295B,MIR3119-1,MIR3119-2,NME7,PRRX1,SCYL3,SELE,SELL,SELP,SLC19A2 chr1 169100000 171200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP1B1,BLZF1,C1orf112,C1orf114,C1orf129,F5,FMO2,FMO3,FMO6P,GORAB,KIFAP3,LOC284688,METTL11B,METTL18,MIR1295A,MIR1295B,MIR3119-1,MIR3119-2,NME7,PRRX1,SCYL3,SELE,SELL,SELP,SLC19A2 chr11 69108701 69112600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 69110022 69110583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 169121487 169169617 Gain and loss Pancreatic cancer SNP array 17952125 NME7 chr1 169133581 169308861 Copy number Lung cancer paired-end sequencing 18438408 NME7 chr1 169142255 169144887 Gain and loss Pancreatic cancer SNP array 17952125 NME7 chr1 169142961 174981941 Copy number Lung cancer paired-end sequencing 18438408 ANKRD45,BLZF1,C1orf105,C1orf112,C1orf114,C1orf129,CACYBP,CENPL,DARS2,DNM3,DNM3OS,F5,FASLG,FMO1,FMO2,FMO3,FMO4,FMO6P,GAS5,GAS5-AS1,GORAB,GPR52,KIFAP3,KLHL20,LOC100506023,LOC284688,LOC730159,METTL11B,METTL13,METTL18,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MYOC,NME7,PIGC,PRDX6,PRRC2C,PRRX1,RABGAP1L,RC3H1,SCYL3,SELE,SELL,SELP,SERPINC1,SLC19A2,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SUCO,TNFSF18,TNFSF4,TOP1P1,VAMP4,ZBTB37 chr1 16914439 16933700 Duplication Normal TaqMan assays 20972442 NBPF1 chr11 69152188 71236208 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ANO1,CCND1,CTTN,DHCR7,FADD,FGF19,FGF3,FGF4,FLJ42102,MIR3664,MIR548K,NADSYN1,ORAOV1,PPFIA1,SHANK2,SHANK2-AS1 chr11 69161019 69306967 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 NOT_FOUND chr11 69165053 69178423 Copy number Lung cancer - 20668451 NOT_FOUND chr11 69165053 69178423 Copy number Non-syndromic sensorineural hearing loss real-time PCR 18509338 NOT_FOUND chr11 69165053 69178423 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr11 69165053 69178423 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 69165053 69178423 Gain or loss Cancer - 20668451 NOT_FOUND chr11 69165053 69178423 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 69165053 69178423 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 69165053 69178423 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 69165053 69178423 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 69165053 69178423 Translate Acute lymphoblastic leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr11 69165053 69178423 Translate Breast cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr11 69165053 69178423 Translate Chronic lymphocytic leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr11 69165054 69178422 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69165054 69178422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69165054 69178422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69165054 69178422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 169171260 169250025 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NME7 chr1 169171260 169250025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NME7 chr1 169171260 169250025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NME7 chr1 1691761 1745027 Loss Normal Birdsuite, version 1.5.2 22087296 GNB1,NADK chr11 69177025 69182379 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69177025 69182379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69177025 69182379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16917807 16918161 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NBPF1 chr1 16918033 17118584 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr11 69189512 69199346 Duplication Predisposition to dermoid sinus References 22138850 NOT_FOUND chr11 69189515 69199296 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69189515 69199346 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69189515 69199346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69189515 69199346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16919501 17110000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 chr11 69200000 134452384 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ADAMTS15,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD42,ANKRD49,ANO1,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARRB1,ATG16L2,ATM,ATP5L,B3GAT1,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,C2CD3,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CCND1,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHCHD8,CHEK1,CHORDC1,CHRDL2,CLDN25,CLMP,CLNS1A,CLPB,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CTTN,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FADD,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAT3,FCHSD2,FDX1,FDXACB1,FEZ1,FGF19,FGF3,FGF4,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GDPD5,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,IL18BP,INPPL1,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LINC00167,LIPT2,LOC100128239,LOC100129216,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRRC32,LRTOMT,MAML2,MAP6,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR139,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4692,MIR4693,MIR4696,MIR4697,MIR548K,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRPL48,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NADSYN1,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDE2A,PDGFD,PDZD3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PIWIL4,PKNOX2,PLEKHB1,POLD3,POU2AF1,POU2F3,PPFIA1,PPME1,PPP2R1B,PRCP,PRDM10,PRKRIR,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RAB6A,RBM7,RDX,RELT,REXO2,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SERPINH1,SESN3,SHANK2,SHANK2-AS1,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SPCS2,SRPR,SRSF8,ST14,ST3GAL4,STARD10,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UPK2,USP2,USP28,USP35,UVRAG,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 69200000 70700000 Amplification Urothelial cell carcinoma FISH 18451213 ANO1,CCND1,CTTN,FADD,FGF19,FGF3,FGF4,MIR548K,ORAOV1,PPFIA1,SHANK2,SHANK2-AS1 chr11 69200000 70700000 Copy number Breast cancer Affymetrix 16272173 ANO1,CCND1,CTTN,FADD,FGF19,FGF3,FGF4,MIR548K,ORAOV1,PPFIA1,SHANK2,SHANK2-AS1 chr11 69200000 70700000 Copy number Normal - 21701786 ANO1,CCND1,CTTN,FADD,FGF19,FGF3,FGF4,MIR548K,ORAOV1,PPFIA1,SHANK2,SHANK2-AS1 chr11 69200000 70700000 Gain Breast cancer Array CGH 16608533 ANO1,CCND1,CTTN,FADD,FGF19,FGF3,FGF4,MIR548K,ORAOV1,PPFIA1,SHANK2,SHANK2-AS1 chr11 69200000 70700000 Gain Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ANO1,CCND1,CTTN,FADD,FGF19,FGF3,FGF4,MIR548K,ORAOV1,PPFIA1,SHANK2,SHANK2-AS1 chr11 69200000 70700000 Gain Lung cancer Array CGH 17925434 ANO1,CCND1,CTTN,FADD,FGF19,FGF3,FGF4,MIR548K,ORAOV1,PPFIA1,SHANK2,SHANK2-AS1 chr11 69200000 85300000 Gain Glioblastoma multiforme aCGH 21080181 ACER3,ALG8,ANAPC15,ANKRD42,ANO1,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C11orf82,C2CD3,CAPN5,CCDC90B,CCND1,CHCHD8,CHRDL2,CLNS1A,CLPB,CTTN,DEFB108B,DGAT2,DHCR7,DLG2,DNAJB13,FADD,FAM168A,FAM181B,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAB2,GDPD4,GDPD5,GUCY2EP,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC100506233,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4300,MIR4692,MIR4696,MIR548K,MIR5579,MIR708,MOGAT2,MRPL48,MYO7A,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NUMA1,ODZ4,OMP,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PCF11,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PRCP,PRKRIR,RAB30,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SPCS2,STARD10,THRSP,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr11 692000 692086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DEAF1 chr11 6920342 6920405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 69204191 69204271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 69205440 69205495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169206401 171812300 Copy number Normal ReadDepth: A Parallel R Package 21305028 BLZF1,C1orf112,C1orf114,C1orf129,DNM3,F5,FMO1,FMO2,FMO3,FMO4,FMO6P,GORAB,KIFAP3,LOC284688,METTL11B,METTL13,METTL18,MIR1295A,MIR1295B,MIR3119-1,MIR3119-2,MYOC,NME7,PRRC2C,PRRX1,SCYL3,SELE,SELL,SELP,SLC19A2,TOP1P1,VAMP4 chr11 69222186 69228287 Duplication Predisposition to dermoid sinus References 22138850 NOT_FOUND chr11 69222186 69228287 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 69222186 69228287 Gain or loss Cancer - 20668451 NOT_FOUND chr11 69222186 69228287 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 69222186 69228287 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 69222186 69228287 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 69222186 69228287 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 69222188 69228287 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69222188 69228287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69222188 69228287 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69222188 69228287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69228875 69242171 Amplification Lung cancer Array CGH 17440070 NOT_FOUND chr11 69228875 69242171 Deletion Cancer Array CGH 17440070 NOT_FOUND chr11 69230000 69780000 Gain Ductal carcinoma SNP array 22052326 CCND1,FGF19,FGF3,FGF4,ORAOV1 chr1 169233270 169312628 Gain and loss Pancreatic cancer SNP array 17952125 NME7 chr11 69236764 69325605 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 NOT_FOUND chr1 169240917 169274588 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NME7 chr1 16924648 16924720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF1 chr1 169250735 170107786 LOH Normal High-resolution SNP genotyping 21211785 BLZF1,C1orf112,C1orf114,F5,KIFAP3,METTL18,NME7,SCYL3,SELE,SELL,SELP,SLC19A2 chr1 16926206 16926277 Gain and loss Pancreatic cancer SNP array 17952125 NBPF1 chr1 169277112 169277205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NME7 chr1 169284347 169284447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NME7 chr11 69296435 69296899 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69296435 69296899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69296977 69299352 Duplication Predisposition to dermoid sinus References 22138850 NOT_FOUND chr11 69296977 69299352 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 69296977 69299352 Gain or loss Cancer - 20668451 NOT_FOUND chr11 69296977 69299352 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 69296977 69299352 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 69296977 69299352 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 69296977 69299352 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 69296977 69299352 Insertion Chondrodysplasia References 22138850 NOT_FOUND chr11 69296978 69299352 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69296978 69299352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69296978 69299352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69296978 69299352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69297000 78897000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ACER3,ALG8,ANAPC15,ANO1,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C2CD3,CAPN5,CCND1,CHCHD8,CHRDL2,CLNS1A,CLPB,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAB2,GDPD4,GDPD5,GUCY2EP,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MIR548K,MOGAT2,MRPL48,MYO7A,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NUMA1,ODZ4,OMP,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PRKRIR,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,THRSP,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr11 69301635 69776764 Amplification Breast cancer FISH 17142309 CCND1,FGF19,FGF3,FGF4,ORAOV1 chr11 69306285 69306385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 69315929 69316029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169319330 169320970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NME7 chr1 16931999 16932071 Gain and loss Pancreatic cancer SNP array 17952125 NBPF1 chr1 169324471 169401716 Copy number Lung cancer paired-end sequencing 18438408 BLZF1,C1orf114,NME7 chr11 69326266 69326793 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NOT_FOUND chr11 69326381 69326481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169326660 169353583 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BLZF1,NME7 chr1 169326660 169353583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLZF1,NME7 chr1 169326660 169353583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLZF1,NME7 chr1 16933034 16933543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF1 chr11 69333916 69343129 Duplication Predisposition to dermoid sinus References 22138850 NOT_FOUND chr11 69333916 69343129 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 69333916 69343129 Gain or loss Cancer - 20668451 NOT_FOUND chr11 69333916 69343129 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 69333916 69343129 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 69333916 69343129 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 69333916 69343129 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 69333917 69343129 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69333917 69343129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69333917 69343129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69333917 69343129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69334000 78934000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ACER3,ALG8,ANAPC15,ANO1,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C2CD3,CAPN5,CCND1,CHCHD8,CHRDL2,CLNS1A,CLPB,CTTN,DEFB108B,DGAT2,DHCR7,DNAJB13,FADD,FAM168A,FAM86C1,FCHSD2,FGF19,FGF3,FGF4,FLJ42102,FOLR1,FOLR2,FOLR3,GAB2,GDPD4,GDPD5,GUCY2EP,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MIR548K,MOGAT2,MRPL48,MYO7A,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NUMA1,ODZ4,OMP,OR2AT4,ORAOV1,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPFIA1,PPME1,PRKRIR,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,THRSP,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr1 169337493 169337571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLZF1 chr11 6934067 9220605 Duplication Dysmorphic features Oligonucleotide array comparative genomic hybridization 22052655 AKIP1,ASCL3,C11orf16,CYB5R2,DENND5A,EIF3F,KRT8P41,LMO1,LOC283299,MIR5691,NLRP10,NLRP14,NRIP3,OLFML1,OR10A3,OR10A6,OR2D3,OR5E1P,OR5P2,OR5P3,OVCH2,PPFIBP2,RBMXL2,RIC3,RPL27A,SCUBE2,SNORA3,SNORA45,ST5,STK33,SYT9,TMEM9B,TRIM66,TUB,ZNF214,ZNF215 chr11 6934067 9220605 Duplication Intellectual disability Oligonucleotide array comparative genomic hybridization 22052655 AKIP1,ASCL3,C11orf16,CYB5R2,DENND5A,EIF3F,KRT8P41,LMO1,LOC283299,MIR5691,NLRP10,NLRP14,NRIP3,OLFML1,OR10A3,OR10A6,OR2D3,OR5E1P,OR5P2,OR5P3,OVCH2,PPFIBP2,RBMXL2,RIC3,RPL27A,SCUBE2,SNORA3,SNORA45,ST5,STK33,SYT9,TMEM9B,TRIM66,TUB,ZNF214,ZNF215 chr11 6934067 9220605 Duplication Obesity Oligonucleotide array comparative genomic hybridization 22052655 AKIP1,ASCL3,C11orf16,CYB5R2,DENND5A,EIF3F,KRT8P41,LMO1,LOC283299,MIR5691,NLRP10,NLRP14,NRIP3,OLFML1,OR10A3,OR10A6,OR2D3,OR5E1P,OR5P2,OR5P3,OVCH2,PPFIBP2,RBMXL2,RIC3,RPL27A,SCUBE2,SNORA3,SNORA45,ST5,STK33,SYT9,TMEM9B,TRIM66,TUB,ZNF214,ZNF215 chr1 169345767 169345867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BLZF1 chr11 69346162 69346250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169359842 169367665 Gain and loss Pancreatic cancer SNP array 17952125 BLZF1,C1orf114 chr11 69368254 69368354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169373503 169397326 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf114 chr1 169373503 169397326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf114 chr1 169373503 169397326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf114 chr1 16939598 16939761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF1 chr1 169416906 193062346 Copy number Lung cancer paired-end sequencing 18438408 ABL2,ACBD6,ANGPTL1,ANKRD45,APOBEC4,ARPC5,ASTN1,AXDND1,C1orf105,C1orf112,C1orf129,C1orf21,C1orf220,C1orf27,CACNA1E,CACYBP,CENPL,CEP350,DARS2,DHX9,DNM3,DNM3OS,EDEM3,F5,FAM129A,FAM163A,FAM20B,FAM5B,FAM5C,FASLG,FLJ23867,FMO1,FMO2,FMO3,FMO4,FMO6P,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GORAB,GPR52,HMCN1,IER5,IVNS1ABP,KIAA0040,KIAA1614,KIFAP3,KLHL20,LAMC1,LAMC2,LHX4,LINC00272,LOC100288079,LOC100506023,LOC100527964,LOC284648,LOC284688,LOC440704,LOC730102,LOC730159,METTL11B,METTL13,METTL18,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR4424,MIR488,MIR548F1,MR1,MRPS14,MYOC,NCF2,NMNAT2,NPHS2,NPL,OCLM,PAPPA2,PDC,PIGC,PLA2G4A,PRDX6,PRG4,PRRC2C,PRRX1,PTGS2,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS8,RGSL1,RNASEL,RNF2,RNU6-72,SCARNA3,SCYL3,SEC16B,SELE,SELL,SELP,SERPINC1,SHCBP1L,SLC19A2,SLC9C2,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,STX6,SUCO,SWT1,TDRD5,TEDDM1,TEX35,TNFSF18,TNFSF4,TNN,TNR,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPR,TRMT1L,TROVE2,TSEN15,UCHL5,VAMP4,XPR1,ZBTB37,ZNF648 chr11 69418329 69418423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169421012 169446648 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC19A2 chr1 169421012 169446648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC19A2 chr11 69421983 69427982 Loss Normal TaqMan assays 20972442 NOT_FOUND chr1 16942879 16943949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 169431059 169442811 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC19A2 chr1 16944010 16945799 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CROCCP2 chr1 169442867 169442967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC19A2 chr1 169446481 169446644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC19A2 chr11 69449210 69449310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 16945509 16945690 Gain and loss Pancreatic cancer SNP array 17952125 CROCCP2 chr1 16945511 16945649 Gain and loss Pancreatic cancer SNP array 17952125 CROCCP2 chr11 69455238 69455748 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NOT_FOUND chr11 69455872 69469241 Amplification Neuroblastoma 44K Agilent aCGH chip 22034077 CCND1 chr11 69455872 69469241 Gain Spitz naevi FISH 22211292 CCND1 chr1 169456747 169456861 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 69462705 69463095 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CCND1 chr11 69463061 69463415 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CCND1 chr11 69463944 69464292 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CCND1 chr11 69471367 69490165 Amplification Oral squamous cell carcinoma qPCR and RT-qPCR 21623924 ORAOV1 chr1 169476355 169509798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 F5 chr1 169484271 169521737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 F5 chr1 169484271 169521737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 F5 chr1 169484287 169521735 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 F5 chr11 69488929 69489325 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 ORAOV1 chr1 169489669 169489785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 F5 chr1 16949054 16965844 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CROCCP2 chr1 16949315 16950046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CROCCP2 chr1 169502265 169502444 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 F5 chr11 69503071 70162681 Copy number Lung cancer paired-end sequencing 18438408 ANO1,FADD,FGF19,FGF3,FGF4,MIR548K,PPFIA1 chr1 169506717 169507353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 F5 chr11 69520345 69520543 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NOT_FOUND chr1 169527844 169528165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 F5 chr1 16953992 16963562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CROCCP2 chr1 16953992 16963562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CROCCP2 chr1 169549478 170484405 Amplification Cancer Affymetrix 250K Sty array 20164920 C1orf112,F5,KIFAP3,LOC284688,METTL11B,METTL18,MIR3119-1,MIR3119-2,SCYL3,SELE,SELL,SELP chr1 169549997 169577846 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 F5,SELP chr1 169549997 169577846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 F5,SELP chr1 169549997 169577846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 F5,SELP chr1 16955166 16987287 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,MST1P2 chr1 16955166 17085289 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 chr1 16955166 17130714 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 chr1 16955166 17134822 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 chr11 6956631 6956731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF215 chr1 169568607 169613875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SELP chr1 169575064 169575727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SELP chr1 16957539 16957596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169580852 169581083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SELP chr1 1695843 1709593 Gain and loss Pancreatic cancer SNP array 17952125 NADK chr11 69599117 69599221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69599117 69599223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69599117 69599223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69601976 69602257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69602056 69713281 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGF3 chr11 69602294 69713281 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGF3 chr11 69602294 69713281 Gain and loss Pancreatic cancer SNP array 17952125 FGF3 chr11 69602294 69713281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF3 chr1 16960891 16961405 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 696113 717726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPS8L2,TMEM80 chr11 696113 717726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS8L2,TMEM80 chr11 6961470 7823339 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CYB5R2,NLRP14,OLFML1,OR5P2,OVCH2,PPFIBP2,RBMXL2,SYT9,ZNF214,ZNF215 chr1 16961924 16987287 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MST1P2 chr11 69623478 69623778 Gain Osteosarcoma References 21215367 NOT_FOUND chr11 69634885 69634929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169654407 169654513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69658301 69663900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 16965832 16987287 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MST1P2 chr1 16965832 17085289 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ESPNP,MIR3675,MST1P2,MST1P9 chr1 16965844 16984764 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MST1P2 chr11 69660201 69662135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 69660239 69661763 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 16967781 16967944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 169680447 169680726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SELL chr1 169700778 169701071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SELE chr1 169717670 169717771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 169721290 169829273 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf112,METTL18,SCYL3 chr1 169721290 169829273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf112,METTL18,SCYL3 chr1 169721290 169829273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf112,METTL18,SCYL3 chr11 69726916 69731134 Copy number Lung cancer - 20668451 NOT_FOUND chr11 69726916 69731134 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 69726916 69731134 Gain or loss Cancer - 20668451 NOT_FOUND chr11 69726916 69731134 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 69726916 69731134 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 69726916 69731134 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 69726916 69731134 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 69726917 69731134 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69726917 69731134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69726917 69731134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69726917 69731138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 16972805 17134822 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ESPNP,MIR3675,MST1P2,MST1P9 chr1 169728174 169728482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 169728177 169728466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69731207 69784991 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 169740757 169751713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 169755579 169755684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 6977125 6998117 Gain and loss Pancreatic cancer SNP array 17952125 ZNF215 chr11 6977125 6998162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF215 chr11 6977125 6998162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF215 chr11 69788606 69788696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 69794471 69908148 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 69794471 69908148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69794471 69908148 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 69794471 69908148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 69794846 69794894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 69795501 69904000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 69805619 69805919 Loss Osteosarcoma References 21215367 NOT_FOUND chr11 69807709 69807824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16983871 17134822 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ESPNP,MIR3675,MST1P9 chr1 16984764 16987299 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 169854889 169854989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCYL3 chr11 69869833 69900382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 16987002 17108845 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ESPNP,MIR3675,MST1P9 chr1 16987002 17130258 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ESPNP,MIR3675,MST1P9 chr1 16987002 17130518 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ESPNP,MIR3675,MST1P9 chr1 16987002 17134822 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ESPNP,MIR3675,MST1P9 chr11 69870493 69896700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 169871182 169888434 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 169871182 169888434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 169871182 169888434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 16987299 17049632 Gain Normal Birdsuite, version 1.5.2 22087296 ESPNP,MIR3675 chr11 69874216 69902086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 69880282 69899884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 169884528 169908128 Gain and loss Pancreatic cancer SNP array 17952125 KIFAP3 chr11 69891494 69916016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 69899629 69899729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1699001 1705000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NADK chr11 699009 708620 Copy number Autism exome sequencing 22495311 EPS8L2,TMEM80 chr1 169906278 169906690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr1 16990962 17780550 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATP13A2,CROCC,ESPNP,MFAP2,MIR3675,MST1P9,PADI1,PADI2,PADI3,PADI4,PADI6,RCC2,SDHB chr1 169914448 169914548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIFAP3 chr11 69915540 69915631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 169918891 169920201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr11 69922292 69960337 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANO1 chr11 69922292 69960337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO1 chr11 69922292 69960337 Gain and loss Pancreatic cancer SNP array 17952125 ANO1 chr11 69922292 69960337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO1 chr11 69926791 69926891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO1 chr1 169935923 169977837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr1 169935923 169977837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr1 169938783 169977837 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIFAP3 chr1 16996222 17044759 Gain and loss Pancreatic cancer SNP array 17952125 ESPNP,MIR3675 chr11 69968999 69969099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO1 chr11 69974549 73001497 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 ANAPC15,ANO1,ARAP1,ATG16L2,CLPB,CTTN,DEFB108B,DHCR7,FADD,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,MIR3664,MIR4692,MIR548K,NADSYN1,NUMA1,P2RY2,P2RY6,PDE2A,PHOX2A,PPFIA1,RNF121,SHANK2,SHANK2-AS1,STARD10 chr11 6998276 7049333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP14,ZNF214 chr11 6998276 7049333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP14,ZNF214 chr11 69983001 69991000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO1 chr1 169987306 169987788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr11 69991001 69996000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO1 chr11 69991609 70185520 Gain and loss Pancreatic cancer SNP array 17952125 ANO1,FADD,MIR548K,PPFIA1 chr11 69991609 70536020 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANO1,CTTN,FADD,MIR548K,PPFIA1,SHANK2,SHANK2-AS1 chr11 69991609 70536020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO1,CTTN,FADD,MIR548K,PPFIA1,SHANK2,SHANK2-AS1 chr11 69991609 70536020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO1,CTTN,FADD,MIR548K,PPFIA1,SHANK2,SHANK2-AS1 chr1 169997837 169998405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr1 17000000 100338915 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABCA4,ABCD3,ACADM,ACOT11,ACTL8,ADC,ADPRHL2,AGBL4,AGL,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ANGPTL3,ANKRD13C,ARHGAP29,ARHGEF10L,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf151-NBL1,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf87,C1orf94,C8A,C8B,CACHD1,CAMK2N1,CAP1,CAPZB,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD164L2,CD52,CDA,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA3A,CELA3B,CEP85,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CROCC,CRYZ,CSF3R,CSMD2,CTBS,CTH,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DCDC2B,DDAH1,DDOST,DEM1,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPYD,DPYD-AS1,DR1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,EPB41,EPHA10,EPHA8,EPHB2,EPHX4,EPS15,ERI3,ERMAP,ESPNP,EVI5,EXTL1,EYA3,F3,FAAH,FABP3,FAF1,FAM110D,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FCN3,FGGY,FGR,FHL3,FLJ27354,FLJ31662,FNBP1L,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR3,GPX7,GRHL3,GRIK3,GTF2B,GUCA2A,GUCA2B,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HFM1,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPG2,HTR1D,HTR6,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1522,KIF17,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LMO4,LOC100128071,LOC100129046,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100505768,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC644961,LOC646471,LOC646626,LOC653160,LOC728431,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRP8,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,MACF1,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFSD2A,MGC27382,MIER1,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4420,MIR4422,MIR4423,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P9,MTF1,MTF2,MTMR9LP,MUL1,MUTYH,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF3,NCDN,NCMAP,NDUFS5,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,ODF2L,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDZK1IP1,PDZK1IP1-AS1,PEF1,PGM1,PHACTR4,PHC2,PIGK,PIGV,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLK3,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRDX1,PRKAA2,PRKACB,PRPF38A,PSMB2,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBMXL1,RCAN3,RCAN3AS,RCC1,RCC2,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF220,RNU11,ROR1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSPO1,RUNX3,RWDD3,S100PBP,SAMD13,SCARNA1,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SPATA6,SPOCD1,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYDE2,SYF2,SYNC,SYTL1,SZT2,TACSTD2,TAF12,TAL1,TAS1R2,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC39A,TTC4,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBR4,UBXN10,UBXN11,UOX,UQCRH,UROD,USP1,USP24,USP33,USP48,UTP11L,VWA5B1,WASF2,WDR63,WDR65,WDR78,WDTC1,WLS,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 17000000 31400000 Duplication Schizophrenia - 22118685 ACTL8,AHDC1,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ARID1A,ASAP3,ATP13A2,ATPIF1,AUNIP,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf172,C1orf213,C1orf63,CAMK2N1,CAPZB,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLIC4,CNKSR1,CNR2,CROCC,DDOST,DHDDS,DNAJC8,E2F2,ECE1,EIF4G3,EMC1,EPB41,EPHA8,EPHB2,ESPNP,EXTL1,EYA3,FAM110D,FAM43B,FAM46B,FAM54B,FAM76A,FCN3,FGR,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPG2,HTR1D,HTR6,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LAPTM5,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MATN1,MATN1-AS1,MDS2,MECR,MED18,MFAP2,MINOS1,MIR1976,MIR3115,MIR3675,MIR378F,MIR3917,MIR4253,MIR4420,MIR4684,MIR4695,MRTO4,MST1P9,MUL1,MYOM3,NBL1,NBPF3,NCMAP,NIPAL3,NR0B2,NUDC,OPRD1,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PAX7,PDIK1L,PHACTR4,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PPP1R8,PQLC2,PTAFR,PTPRU,RAB42,RAP1GAP,RCAN3,RCAN3AS,RCC1,RCC2,RHCE,RHD,RNF186,RNU11,RPA2,RPL11,RPS6KA1,RUNX3,SCARNA1,SDC3,SDHB,SEPN1,SESN2,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRRM1,SRSF10,SRSF4,STMN1,STPG1,STX12,SYF2,SYTL1,TAF12,TAS1R2,TCEA3,TCEB3,THEMIS2,TMCO4,TMEM200B,TMEM222,TMEM50A,TMEM57,TRIM63,TRNAU1AP,TRNP1,UBR4,UBXN10,UBXN11,USP48,VWA5B1,WASF2,WDTC1,WNT4,XKR8,YTHDF2,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 170003809 170003938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr1 170017383 170033479 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 KIFAP3 chr1 170017384 170033480 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIFAP3 chr1 170017384 170033480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr1 170017384 170033480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr11 70035001 70046500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO1 chr1 170039294 170039703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIFAP3 chr1 170049809 171333839 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf129,FMO1,FMO2,FMO3,FMO4,FMO6P,GORAB,LOC284688,METTL11B,MIR1295A,MIR1295B,MIR3119-1,MIR3119-2,PRRX1,TOP1P1 chr1 170049809 171553431 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf129,FMO1,FMO2,FMO3,FMO4,FMO6P,GORAB,LOC284688,METTL11B,MIR1295A,MIR1295B,MIR3119-1,MIR3119-2,PRRC2C,PRRX1,TOP1P1 chr1 170050211 170050272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 170050292 170050386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170060373 170060722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170060373 170060722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170064354 170081588 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 170077261 170648480 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GORAB,LOC284688,METTL11B,MIR3119-1,MIR3119-2,PRRX1 chr1 170077261 170648480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GORAB,LOC284688,METTL11B,MIR3119-1,MIR3119-2,PRRX1 chr1 170077261 170648480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GORAB,LOC284688,METTL11B,MIR3119-1,MIR3119-2,PRRX1 chr11 70116805 70230607 Gain Esophageal squamous carcinoma Array CGH 17470683 MIR548K,PPFIA1 chr11 70119917 70187872 Loss Autism qPCR 20531469 MIR548K,PPFIA1 chr11 70119917 70508750 Gain small cell lung cancer Real-time Quantitative PCR 17426248 CTTN,MIR548K,PPFIA1,SHANK2,SHANK2-AS1 chr11 70131601 70814700 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTTN,MIR3664,PPFIA1,SHANK2,SHANK2-AS1 chr11 70133399 70133518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPFIA1 chr1 170138360 170138450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 70154458 70220632 Loss Autism qPCR, Agilent 1M 20531469 PPFIA1 chr11 7016373 7049333 Gain and loss Pancreatic cancer SNP array 17952125 NLRP14,ZNF214 chr1 170166124 170721709 LOH Normal High-resolution SNP genotyping 21211785 GORAB,LOC284688,PRRX1 chr11 70176891 73438716 Copy number Lung cancer paired-end sequencing 18438408 ANAPC15,ARAP1,ARHGEF17,ATG16L2,CLPB,CTTN,DEFB108B,DHCR7,FAM168A,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,MIR3664,MIR4692,NADSYN1,NUMA1,P2RY2,P2RY6,PDE2A,PHOX2A,PLEKHB1,PPFIA1,RAB6A,RELT,RNF121,SHANK2,SHANK2-AS1,STARD10 chr1 170178143 170189603 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170194247 170245451 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC284688 chr1 170201261 170303890 Gain and loss Pancreatic cancer SNP array 17952125 LOC284688 chr11 70228920 70229022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIA1 chr11 70228922 70229022 Gain and loss Pancreatic cancer SNP array 17952125 PPFIA1 chr11 702305 703725 Copy number Autism exome sequencing 22495311 TMEM80 chr1 170231662 170231730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 70244611 70282690 Gain Esophageal squamous carcinoma Array CGH 17470683 CTTN chr1 170260716 170260816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 70269881 70299979 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CTTN chr11 70279912 70313158 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTTN chr11 70283476 70283556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 170287712 170287812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 170309132 170370658 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 70313961 70935842 Copy number Autism ref 20964600 MIR3664,SHANK2,SHANK2-AS1 chr11 70328501 70377500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SHANK2 chr11 70336271 70507923 Gain Esophageal squamous carcinoma Array CGH 17470683 SHANK2,SHANK2-AS1 chr1 170360894 170360996 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170374561 170374670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70374595 70408055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHANK2 chr1 170380298 170380407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170385792 171422401 LOH Normal High-resolution SNP genotyping 21211785 C1orf129,FMO1,FMO2,FMO3,FMO4,FMO6P,GORAB,MIR1295A,MIR1295B,PRRX1,TOP1P1 chr11 70387036 70388867 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHANK2 chr11 70387036 70388867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70387036 70388867 Gain and loss Pancreatic cancer SNP array 17952125 SHANK2 chr11 70387036 70388867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70400000 85600000 Copy number Breast cancer Array CGH, Q-PCR 19863778 ACER3,ALG8,ANAPC15,ANKRD42,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C11orf82,C2CD3,CAPN5,CCDC83,CCDC89,CCDC90B,CHCHD8,CHRDL2,CLNS1A,CLPB,CREBZF,DEFB108B,DGAT2,DHCR7,DLG2,DNAJB13,FAM168A,FAM181B,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,GAB2,GDPD4,GDPD5,GUCY2EP,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC100506233,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4300,MIR4692,MIR4696,MIR5579,MIR708,MOGAT2,MRPL48,MYO7A,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NUMA1,ODZ4,OMP,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PCF11,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,PRCP,PRKRIR,RAB30,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SPCS2,STARD10,SYTL2,THRSP,TMEM126A,TMEM126B,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr11 70400000 85600000 Gain and amplification Multiple myeloma Array CGH 16616336 ACER3,ALG8,ANAPC15,ANKRD42,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C11orf82,C2CD3,CAPN5,CCDC83,CCDC89,CCDC90B,CHCHD8,CHRDL2,CLNS1A,CLPB,CREBZF,DEFB108B,DGAT2,DHCR7,DLG2,DNAJB13,FAM168A,FAM181B,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,GAB2,GDPD4,GDPD5,GUCY2EP,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC100506233,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4300,MIR4692,MIR4696,MIR5579,MIR708,MOGAT2,MRPL48,MYO7A,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NUMA1,ODZ4,OMP,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PCF11,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,PRCP,PRKRIR,RAB30,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SHANK2,SHANK2-AS1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SPCS2,STARD10,SYTL2,THRSP,TMEM126A,TMEM126B,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr1 170415737 170487495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 70420255 70507651 Gain and loss Pancreatic cancer SNP array 17952125 SHANK2,SHANK2-AS1 chr11 70420528 70420628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHANK2 chr1 170424684 170470344 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 70432874 70432974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHANK2 chr1 17046307 17052479 Gain and loss Pancreatic cancer SNP array 17952125 ESPNP chr1 170492343 170492682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170492344 170492682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 17049620 17120973 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MST1P9 chr1 17049620 17134822 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MST1P9 chr1 17049620 17148816 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MST1P9 chr1 17049632 17055024 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 170500653 170525116 Gain and loss Pancreatic cancer SNP array 17952125 GORAB chr1 170509284 170509415 Gain and loss Pancreatic cancer SNP array 17952125 GORAB chr11 70513145 70559392 Deletion Glioblastoma multiforme Array CGH 19115005 SHANK2 chr11 70513819 70513888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHANK2 chr1 170525615 170559339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 17053487 17053558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70535138 70535138 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SHANK2 chr1 170542299 170687600 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRRX1 chr1 17055012 17131895 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MST1P9 chr1 17055024 17062591 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 70552731 70610298 Gain Normal 244K array 17666407 SHANK2 chr1 170564941 170565012 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170564941 170565017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170565164 170565240 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170565165 170565229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170565625 170565699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170565628 170565698 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170566145 170566225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170566148 170566222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170566417 170566481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170566763 170566823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170567096 170567166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170567429 170567510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170567430 170567510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170567674 170567733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170568466 170568545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170568469 170568540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 170569718 170574433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 17057759 17083716 Gain and loss Pancreatic cancer SNP array 17952125 MST1P9 chr1 17059280 17059352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170602303 170602409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170603215 170603451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 170603394 170603431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 170604596 170618130 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 17062591 17067741 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 170629356 170679811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRRX1 chr1 170634349 170634404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRRX1 chr1 170637454 170637554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRRX1 chr1 170637574 170693708 Gain and loss Pancreatic cancer SNP array 17952125 PRRX1 chr1 170643858 170643958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRRX1 chr11 70649542 70677841 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SHANK2 chr1 170651588 170651683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRRX1 chr1 170656453 170704590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRRX1 chr1 170656453 170704590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRRX1 chr1 1706590 1812355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNB1,NADK chr1 1706590 1812355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNB1,NADK chr11 7066911 7068706 Gain and loss Pancreatic cancer SNP array 17952125 NLRP14 chr11 7066911 7068706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP14 chr1 170670111 170670231 Gain and loss Pancreatic cancer SNP array 17952125 PRRX1 chr1 170670113 170670231 Gain and loss Pancreatic cancer SNP array 17952125 PRRX1 chr11 70670120 70670193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHANK2 chr11 70672857 70676514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHANK2 chr11 70675183 70675353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SHANK2 chr11 70677105 70677205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHANK2 chr1 170677220 170679853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRRX1 chr1 170677220 170679853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRRX1 chr1 17067741 17067742 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 17067742 17126125 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MST1P9 chr1 17067742 17134834 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 MST1P9 chr1 17067742 17134834 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 MST1P9 chr1 17068841 17071255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70700000 110000000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AASDHPPT,ACAT1,ACER3,ALG8,ALKBH8,AMOTL1,ANAPC15,ANGPTL5,ANKRD42,ANKRD49,AQP11,ARAP1,ARHGAP42,ARHGEF17,ARRB1,ATG16L2,ATM,B3GNT6,BIRC2,BIRC3,C11orf30,C11orf54,C11orf65,C11orf67,C11orf70,C11orf73,C11orf75,C11orf82,C11orf87,C2CD3,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHCHD8,CHORDC1,CHRDL2,CLNS1A,CLPB,CNTN5,CREBZF,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DEFB108B,DGAT2,DHCR7,DLG2,DNAJB13,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM168A,FAM181B,FAM76B,FAM86C1,FAT3,FCHSD2,FLJ42102,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FUT4,FZD4,GAB2,GDPD4,GDPD5,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,HEPHL1,IL18BP,INPPL1,INTS4,JRKL,JRKL-AS1,KBTBD3,KCNE3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC100506233,LOC100506368,LOC101054525,LOC283214,LOC643037,LOC643733,LOC643923,LRRC32,LRTOMT,MAML2,MAP6,ME3,MED17,MIR1260B,MIR1304,MIR139,MIR3165,MIR326,MIR3664,MIR3920,MIR4300,MIR4490,MIR4692,MIR4693,MIR4696,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MRE11A,MRPL48,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NADSYN1,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NOX4,NPAT,NUMA1,ODZ4,OMP,OR2AT4,OR7E2P,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PANX1,PCF11,PDE2A,PDGFD,PGM2L1,PGR,PHOX2A,PICALM,PIWIL4,PLEKHB1,POLD3,PPME1,PRCP,PRKRIR,PRSS23,RAB30,RAB38,RAB39A,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SCARNA9,SERPINH1,SESN3,SHANK2,SLC35F2,SLC36A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SPCS2,SRSF8,STARD10,SYTL2,TAF1D,THRSP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TPBGL,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TYR,UBTFL1,UCP2,UCP3,USP35,UVRAG,VSTM5,WNT11,WTAPP1,XRRA1,YAP1,ZC3H12C chr11 70700000 130300000 Loss Glioblastoma multiforme aCGH 21080181 AASDHPPT,ABCG4,ACAT1,ACER3,ACRV1,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANAPC15,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARAP1,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARHGEF17,ARRB1,ATG16L2,ATM,ATP5L,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,C2CD3,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHCHD8,CHEK1,CHORDC1,CHRDL2,CLDN25,CLMP,CLNS1A,CLPB,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DEFB108B,DGAT2,DHCR7,DIXDC1,DLAT,DLG2,DNAJB13,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM168A,FAM181B,FAM76B,FAM86C1,FAT3,FCHSD2,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FLJ42102,FOLH1B,FOLR1,FOLR2,FOLR3,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GDPD5,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,IL18BP,INPPL1,INTS4,JRKL,JRKL-AS1,KBTBD3,KCNE3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LAYN,LINC00167,LIPT2,LOC100129216,LOC100131626,LOC100132078,LOC100133315,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRRC32,LRTOMT,MAML2,MAP6,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR139,MIR3165,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3664,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4692,MIR4693,MIR4696,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MRPL48,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NADSYN1,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NEU3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NUMA1,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR2AT4,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,P2RY2,P2RY6,P4HA3,PAAF1,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDE2A,PDGFD,PDZD3,PGM2L1,PGR,PHLDB1,PHOX2A,PICALM,PIH1D2,PIWIL4,PKNOX2,PLEKHB1,POLD3,POU2AF1,POU2F3,PPME1,PPP2R1B,PRCP,PRDM10,PRKRIR,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RAB6A,RBM7,RDX,RELT,REXO2,RNF121,RNF169,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SERPINH1,SESN3,SHANK2,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SORL1,SPA17,SPCS2,SRPR,SRSF8,ST14,ST3GAL4,STARD10,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UCP2,UCP3,UPK2,USP2,USP28,USP35,UVRAG,VPS11,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,XRRA1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 70700000 74900000 Amplification Urothelial cell carcinoma FISH 18451213 ANAPC15,ARAP1,ARHGEF17,ATG16L2,C2CD3,CHCHD8,CHRDL2,CLPB,DEFB108B,DHCR7,DNAJB13,FAM168A,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,KCNE3,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,MIR3664,MIR4692,MIR4696,MRPL48,NADSYN1,NEU3,NUMA1,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,RAB6A,RELT,RNF121,RNF169,SHANK2,SLCO2B1,SPCS2,STARD10,UCP2,UCP3,XRRA1 chr11 70700000 74900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANAPC15,ARAP1,ARHGEF17,ATG16L2,C2CD3,CHCHD8,CHRDL2,CLPB,DEFB108B,DHCR7,DNAJB13,FAM168A,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,KCNE3,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,MIR3664,MIR4692,MIR4696,MRPL48,NADSYN1,NEU3,NUMA1,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,RAB6A,RELT,RNF121,RNF169,SHANK2,SLCO2B1,SPCS2,STARD10,UCP2,UCP3,XRRA1 chr11 70700000 74900000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANAPC15,ARAP1,ARHGEF17,ATG16L2,C2CD3,CHCHD8,CHRDL2,CLPB,DEFB108B,DHCR7,DNAJB13,FAM168A,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,KCNE3,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,MIR3664,MIR4692,MIR4696,MRPL48,NADSYN1,NEU3,NUMA1,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,RAB6A,RELT,RNF121,RNF169,SHANK2,SLCO2B1,SPCS2,STARD10,UCP2,UCP3,XRRA1 chr11 70700000 74900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANAPC15,ARAP1,ARHGEF17,ATG16L2,C2CD3,CHCHD8,CHRDL2,CLPB,DEFB108B,DHCR7,DNAJB13,FAM168A,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,KCNE3,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,MIR3664,MIR4692,MIR4696,MRPL48,NADSYN1,NEU3,NUMA1,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,RAB6A,RELT,RNF121,RNF169,SHANK2,SLCO2B1,SPCS2,STARD10,UCP2,UCP3,XRRA1 chr11 70700000 76700000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACER3,ANAPC15,ARAP1,ARHGEF17,ARRB1,ATG16L2,C11orf30,C2CD3,CHCHD8,CHRDL2,CLPB,DEFB108B,DGAT2,DHCR7,DNAJB13,FAM168A,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,GDPD5,GUCY2EP,IL18BP,INPPL1,KCNE3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MOGAT2,MRPL48,NADSYN1,NEU3,NUMA1,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,PRKRIR,RAB6A,RELT,RNF121,RNF169,RPS3,SERPINH1,SHANK2,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,TPBGL,TSKU,UCP2,UCP3,UVRAG,WNT11,XRRA1 chr11 70700000 76700000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 ACER3,ANAPC15,ARAP1,ARHGEF17,ARRB1,ATG16L2,C11orf30,C2CD3,CHCHD8,CHRDL2,CLPB,DEFB108B,DGAT2,DHCR7,DNAJB13,FAM168A,FAM86C1,FCHSD2,FLJ42102,FOLR1,FOLR2,FOLR3,GDPD5,GUCY2EP,IL18BP,INPPL1,KCNE3,KLHL35,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR3664,MIR4692,MIR4696,MOGAT2,MRPL48,NADSYN1,NEU3,NUMA1,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,PRKRIR,RAB6A,RELT,RNF121,RNF169,RPS3,SERPINH1,SHANK2,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,TPBGL,TSKU,UCP2,UCP3,UVRAG,WNT11,XRRA1 chr1 17072790 17072934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170728154 170728254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 70728179 70752754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHANK2 chr11 70752501 70759500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SHANK2 chr1 170758115 170759115 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr1 170768112 170847594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 170768112 170847594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170768112 170847594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70771295 70796466 Gain and loss Pancreatic cancer SNP array 17952125 SHANK2 chr11 70774309 70774354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHANK2 chr11 70784001 70790500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SHANK2 chr1 170790404 170790504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 170790938 170791267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 70791676 70791867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SHANK2 chr11 70794446 70812048 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHANK2 chr11 70794446 70812048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70794446 70812048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr1 170796036 170796092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 70814701 71143600 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ42102,SHANK2 chr1 170820885 170824528 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 170822660 170823660 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr11 70823104 70837125 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SHANK2 chr11 70823105 70837125 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHANK2 chr11 70823105 70837125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70823105 70837125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70823111 70837050 Gain and loss Pancreatic cancer SNP array 17952125 SHANK2 chr11 70841865 70890227 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHANK2 chr11 70841865 70890227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70841865 70890227 Gain and loss Pancreatic cancer SNP array 17952125 SHANK2 chr11 70841865 70890227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr1 17087397 17133838 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MST1P9 chr1 17088177 17088684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MST1P9 chr1 170894777 170902637 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 170894777 170902637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170894777 170902637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170894807 170902635 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 170894807 170902635 Gain or loss Cancer - 20668451 NOT_FOUND chr1 170894807 170902635 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 170894807 170902635 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 170894807 170902635 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 170894807 170902635 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 170900000 172900000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 C1orf105,C1orf129,DNM3,DNM3OS,FASLG,FMO1,FMO2,FMO3,FMO4,FMO6P,METTL13,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3120,MYOC,PIGC,PRRC2C,SUCO,TOP1P1,VAMP4 chr1 170900000 176000000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ANKRD45,C1orf105,C1orf129,CACYBP,CENPL,DARS2,DNM3,DNM3OS,FASLG,FMO1,FMO2,FMO3,FMO4,FMO6P,GAS5,GAS5-AS1,GPR52,KIAA0040,KLHL20,LOC100506023,LOC730159,METTL13,MIR1295A,MIR1295B,MIR199A2,MIR214,MIR3120,MRPS14,MYOC,PIGC,PRDX6,PRRC2C,RABGAP1L,RC3H1,RFWD2,SCARNA3,SERPINC1,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SUCO,TNFSF18,TNFSF4,TNN,TNR,TOP1P1,VAMP4,ZBTB37 chr1 170900926 170901025 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 17090575 17125971 Gain and loss Pancreatic cancer SNP array 17952125 MST1P9 chr11 7091283 7093061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NLRP14 chr11 70915961 70917368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70915961 70917368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70915961 70927901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHANK2 chr11 70915995 70927313 Gain and loss Pancreatic cancer SNP array 17952125 SHANK2 chr1 170919154 171546207 LOH Normal High-resolution SNP genotyping 21211785 C1orf129,FMO1,FMO2,FMO3,FMO4,FMO6P,MIR1295A,MIR1295B,PRRC2C,TOP1P1 chr1 170919953 171696101 Gain and loss Pancreatic cancer SNP array 17952125 C1orf129,FMO1,FMO2,FMO3,FMO4,FMO6P,MIR1295A,MIR1295B,MYOC,PRRC2C,TOP1P1,VAMP4 chr11 7092582 7092798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLRP14 chr11 70926719 70927901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 70926719 70927901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK2 chr11 7092789 7093043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 70937114 70938137 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 70937114 70938137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 70937210 70937943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7093977 7094077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 17095062 17095225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 170952790 170953102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C1orf129 chr11 70954257 70957628 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 70954257 70957628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70954257 70957628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70968408 70971569 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 70968408 70971569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70968408 70971569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70970604 70996135 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 70970604 70996135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70980134 70982900 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 70980134 70982900 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 70980134 70982900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 70984319 70984397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 170984323 170985265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf129 chr11 70985691 71301459 Substitutions and indels small cell lung cancer array-CGH 20016488 DHCR7,FLJ42102,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,NADSYN1 chr11 70991955 70996252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1 7100000 Deletion 1p36 deletion syndrome array CGH 18245432 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr1 1 7100000 Microdeletion TAR Syndrome aCGH 17847015 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr11 71008863 71009513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71008863 71009513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71017739 71018096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71029775 71211567 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHCR7,FLJ42102,NADSYN1 chr11 71031818 71031918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 71041287 71335224 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DHCR7,FLJ42102,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,NADSYN1 chr11 71041287 71335224 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DHCR7,FLJ42102,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,NADSYN1 chr11 71043855 71043955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 71051241 71051389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71056959 71057232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71061988 71335224 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DHCR7,FLJ42102,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,NADSYN1 chr11 71075089 71075189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 71081959 71105199 Loss or gain Normal 244K array 17666407 NOT_FOUND chr11 71095173 71095272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 17110001 17175000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 171121710 171122021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMO6P chr11 71143601 71472500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHCR7,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,NADSYN1 chr11 71176190 71189921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NADSYN1 chr11 71176190 71189921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NADSYN1 chr11 71176190 71189930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NADSYN1 chr11 71176208 71189930 Gain and loss Pancreatic cancer SNP array 17952125 NADSYN1 chr11 71176703 71225602 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NADSYN1 chr1 17118308 17205914 Copy number Lung cancer paired-end sequencing 18438408 MIR3675 chr1 171200000 174300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD45,C1orf105,CENPL,DARS2,DNM3,DNM3OS,FASLG,FMO1,FMO4,GAS5,GAS5-AS1,KLHL20,LOC100506023,LOC730159,METTL13,MIR199A2,MIR214,MIR3120,MYOC,PIGC,PRDX6,PRRC2C,RABGAP1L,RC3H1,SERPINC1,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SUCO,TNFSF18,TNFSF4,TOP1P1,VAMP4,ZBTB37 chr1 171200000 174300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD45,C1orf105,CENPL,DARS2,DNM3,DNM3OS,FASLG,FMO1,FMO4,GAS5,GAS5-AS1,KLHL20,LOC100506023,LOC730159,METTL13,MIR199A2,MIR214,MIR3120,MYOC,PIGC,PRDX6,PRRC2C,RABGAP1L,RC3H1,SERPINC1,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SUCO,TNFSF18,TNFSF4,TOP1P1,VAMP4,ZBTB37 chr1 171200000 178600000 Copy number Normal - 21701786 ANKRD45,ASTN1,C1orf105,C1orf220,CACYBP,CENPL,DARS2,DNM3,DNM3OS,FAM5B,FASLG,FMO1,FMO4,GAS5,GAS5-AS1,GPR52,KIAA0040,KLHL20,LOC100506023,LOC730102,LOC730159,METTL13,MIR199A2,MIR214,MIR3120,MIR488,MRPS14,MYOC,PAPPA2,PIGC,PRDX6,PRRC2C,RABGAP1L,RASAL2,RASAL2-AS1,RC3H1,RFWD2,SCARNA3,SEC16B,SERPINC1,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SUCO,TEX35,TNFSF18,TNFSF4,TNN,TNR,TOP1P1,VAMP4,ZBTB37 chr11 71200121 71200211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NADSYN1 chr1 171200938 171301433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FMO1,FMO4 chr11 71202739 71210242 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NADSYN1 chr11 71202739 71210242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NADSYN1 chr11 71202739 71210242 Gain and loss Pancreatic cancer SNP array 17952125 NADSYN1 chr11 71202739 71210242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NADSYN1 chr11 71203003 71203103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NADSYN1 chr1 17121031 17172061 Copy number Breast cancer BAC array 16272173 NOT_FOUND chr1 17121031 17172061 Copy number Rett syndrome array CGH 21593744 NOT_FOUND chr1 17121032 17172061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 17121032 17172061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71221894 71226256 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 71221894 71226256 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71221894 71226256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 17126125 17134834 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 7126132 7126217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 71273806 71273881 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 171275723 171286679 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FMO4 chr1 171275723 171286726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMO4 chr1 171275723 171286726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMO4 chr11 71282263 71282913 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71282263 71282913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71287254 71304975 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRTAP5-11 chr11 71306229 71312047 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 71306229 71312047 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71306229 71317136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71308479 85120803 Substitutions and indels small cell lung cancer array-CGH 20016488 ACER3,ALG8,ANAPC15,ANKRD42,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C11orf82,C2CD3,CAPN5,CCDC90B,CHCHD8,CHRDL2,CLNS1A,CLPB,DEFB108B,DGAT2,DLG2,DNAJB13,FAM168A,FAM181B,FAM86C1,FCHSD2,FOLR1,FOLR2,FOLR3,GAB2,GDPD4,GDPD5,GUCY2EP,IL18BP,INPPL1,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,LAMTOR1,LIPT2,LOC100129216,LOC100133315,LOC100506233,LOC283214,LRRC32,LRTOMT,MAP6,MIR139,MIR3165,MIR326,MIR4300,MIR4692,MIR4696,MIR5579,MIR708,MOGAT2,MRPL48,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NUMA1,ODZ4,OMP,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PCF11,PDE2A,PGM2L1,PHOX2A,PLEKHB1,POLD3,PPME1,PRCP,PRKRIR,RAB30,RAB6A,RELT,RNF121,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SPCS2,STARD10,THRSP,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr11 71317731 71386289 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 71317731 71386289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71317731 71386289 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71317731 71386289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 713475 717720 Gain Normal 244K array 17666407 EPS8L2 chr1 17134834 17150527 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 171358324 171358424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 71373970 71374136 Loss Normal 244K array 17666407 NOT_FOUND chr1 171376862 171378112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71381658 72306555 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ANAPC15,CLPB,DEFB108B,FAM86C1,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,LAMTOR1,LOC100129216,LOC100133315,LRTOMT,MIR3165,NUMA1,PDE2A,PHOX2A,RNF121 chr11 71383633 71895665 Deletion Breast cancer FISH 17142309 ANAPC15,DEFB108B,FAM86C1,FOLR3,IL18BP,LAMTOR1,LOC100129216,LOC100133315,LRTOMT,MIR3165,NUMA1,RNF121 chr1 17138563 17191236 Gain and loss Pancreatic cancer SNP array 17952125 MIR3675 chr11 71386662 71394409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71387235 71391221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71387235 71391221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71387573 71391221 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 71387841 71469221 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 71387841 71469221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71387841 71469221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171390000 248880000 Gain Breast cancer aCGH 21509527 ABCB10,ABL2,ACBD3,ACBD6,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ANGPTL1,ANKRD45,APOBEC4,ARF1,ARID4B,ARL8A,ARPC5,ARV1,ASCL5,ASPM,ASTN1,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf21,C1orf220,C1orf227,C1orf229,C1orf27,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1E,CACNA1S,CACYBP,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CENPL,CEP170,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DARS2,DDX59,DEGS1,DENND1B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNM3,DNM3OS,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EDEM3,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,FAIM3,FAM129A,FAM163A,FAM177B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM71A,FAM72A,FAM89A,FASLG,FBXO28,FCAMR,FH,FLJ23867,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GAS5,GAS5-AS1,GCSAML,GCSAML-AS1,GGPS1,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GPR52,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IER5,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,IVNS1ABP,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KLHL20,KMO,LAD1,LAMB3,LAMC1,LAMC2,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100288079,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC339529,LOC339535,LOC401980,LOC440704,LOC641515,LOC643723,LOC728463,LOC730102,LOC730159,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,METTL13,MFSD4,MIA3,MIR1182,MIR1231,MIR1278,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR29B2,MIR29C,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B2,MIR3620,MIR3916,MIR4260,MIR4424,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5191,MIR548F1,MIR664,MIXL1,MR1,MRPL55,MRPS14,MTR,MYBPH,MYOC,MYOG,NAV1,NCF2,NEK2,NEK7,NENF,NFASC,NID1,NLRP3,NMNAT2,NPHS2,NPL,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OCLM,OPN3,OPTC,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PAPPA2,PARP1,PCNXL2,PDC,PFKFB2,PGBD5,PHLDA3,PIGC,PIGR,PIK3C2B,PKP1,PLA2G4A,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRDX6,PRELP,PRG4,PROX1,PRRC2C,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,QSOX1,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RC3H1,RCOR3,RD3,REN,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS7,RGS8,RGSL1,RHOU,RNASEL,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCARNA3,SCCPDH,SDCCAG8,SDE2,SEC16B,SERPINC1,SERTAD4,SERTAD4-AS1,SHCBP1L,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SLC9C2,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SOAT1,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,STX6,SUCO,SUSD4,SWT1,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TDRD5,TEDDM1,TEX35,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM58,TRIM67,TRMT1L,TROVE2,TSEN15,TSNAX,TSNAX-DISC1,TTC13,UBE2T,UCHL5,URB2,USH2A,VAMP4,VASH2,VN1R5,WDR26,WDR64,WNT3A,WNT9A,XPR1,YOD1,ZBED6,ZBTB37,ZBTB41,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF648,ZNF669,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr11 71391558 71469221 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr11 71391559 71469188 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 171419494 171443094 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 171419494 171443094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171419494 171443094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171433228 171433328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 71436567 71436663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71436567 71436686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71440217 71452138 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr1 171444410 171444510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 17145031 22536274 Copy number Lung cancer paired-end sequencing 18438408 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ATP13A2,C1orf151-NBL1,CAMK2N1,CAPZB,CDA,CDC42,CELA3A,CELA3B,CROCC,DDOST,ECE1,EIF4G3,EMC1,FAM43B,HP1BP3,HSPG2,HTR6,IFFO2,IGSF21,KIF17,KLHDC7A,LDLRAD2,LINC00339,LOC100506730,LOC100506801,LOC339505,MFAP2,MINOS1,MIR3675,MIR4695,MRTO4,MUL1,NBL1,NBPF3,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PQLC2,RAP1GAP,RCC2,RNF186,SDHB,SH2D5,TAS1R2,TMCO4,UBR4,UBXN10,USP48,VWA5B1,WNT4 chr11 71462930 71494868 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 71467024 71467114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71469553 71497332 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 71469553 71497332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71469553 71497332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71469553 71499471 Gain and loss Pancreatic cancer SNP array 17952125 FAM86C1 chr11 71472501 72180900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANAPC15,CLPB,DEFB108B,FAM86C1,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,LAMTOR1,LOC100129216,LOC100133315,LRTOMT,MIR3165,NUMA1,PHOX2A,RNF121 chr1 1714840 1743670 Gain and loss Pancreatic cancer SNP array 17952125 GNB1 chr11 71485987 71491970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71485987 71491970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71485987 71491970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71486016 71492081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 71492768 71492862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71492768 71492862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71495524 72341948 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANAPC15,CLPB,DEFB108B,FAM86C1,FOLR1,FOLR2,FOLR3,IL18BP,INPPL1,LAMTOR1,LOC100129216,LOC100133315,LRTOMT,MIR139,MIR3165,NUMA1,PDE2A,PHOX2A,RNF121 chr11 71498283 71501474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM86C1 chr11 71498283 71501474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM86C1 chr11 71498283 71501474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM86C1 chr11 71498575 71499970 Gain and loss Pancreatic cancer SNP array 17952125 FAM86C1 chr11 71524419 71528582 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 71524419 71528582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 71524419 71528582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71524419 71528582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171532866 173355534 LOH Normal High-resolution SNP genotyping 21211785 C1orf105,DNM3,DNM3OS,FASLG,LOC100506023,METTL13,MIR199A2,MIR214,MIR3120,MYOC,PIGC,PRRC2C,SUCO,TNFSF18,TNFSF4,VAMP4 chr11 71539246 71539560 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 171568844 173394829 LOH Normal High-resolution SNP genotyping 21211785 C1orf105,DNM3,DNM3OS,FASLG,LOC100506023,METTL13,MIR199A2,MIR214,MIR3120,MYOC,PIGC,SUCO,TNFSF18,TNFSF4,VAMP4 chr11 71578250 71584990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr11 71578250 71584990 Gain and loss Pancreatic cancer SNP array 17952125 LOC100133315 chr11 71578250 71584990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr11 71578250 71584991 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100133315 chr1 171587451 171587766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171598160 171599495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171600 171900 Copy number Lymphoma KC-SMARTR 21070656 NOT_FOUND chr11 7160460 7160560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 71605476 71610632 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100133315 chr11 71605476 71610632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr11 71605476 71610632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr11 71605486 71610637 Gain and loss Pancreatic cancer SNP array 17952125 LOC100133315 chr11 71613472 71627797 Gain or loss Breast cancer - 20668451 LOC100133315 chr11 71613472 71627797 Gain or loss Cancer - 20668451 LOC100133315 chr11 71613472 71627797 Gain or loss Lung cancer - 20668451 LOC100133315 chr11 71613472 71627797 Gain or loss Ovarian cancer - 20668451 LOC100133315 chr11 71613472 71627797 Gain or loss Pancreas cancer - 20668451 LOC100133315 chr11 71613472 71627797 Gain or loss Prostate cancer - 20668451 LOC100133315 chr11 71613473 71627797 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100133315 chr11 71613473 71627797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr11 71613473 71627797 Gain and loss Pancreatic cancer SNP array 17952125 LOC100133315 chr11 71613473 71627797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr11 71627770 71632852 Gain and loss Pancreatic cancer SNP array 17952125 LOC100133315 chr11 71627772 71632852 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100133315 chr11 71627772 71632852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr11 71627772 71632852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr11 71639265 71639564 Gain and loss Pancreatic cancer SNP array 17952125 LOC100133315 chr11 71639265 71639564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100133315 chr1 171653711 171697124 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VAMP4 chr1 171653711 171697124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAMP4 chr11 71657317 71657317 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RNF121 chr11 7165872 7166188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 71658963 71693536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RNF121 chr11 71665403 71695604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RNF121 chr11 71668843 71669874 Gain and loss Pancreatic cancer SNP array 17952125 RNF121 chr11 71668843 71669874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF121 chr11 71681120 71823226 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC15,IL18BP,LAMTOR1,LRTOMT,MIR3165,NUMA1,RNF121 chr11 71681122 71823216 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANAPC15,IL18BP,LAMTOR1,LRTOMT,MIR3165,NUMA1,RNF121 chr11 71681122 71823216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANAPC15,IL18BP,LAMTOR1,LRTOMT,MIR3165,NUMA1,RNF121 chr11 71681122 71823216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC15,IL18BP,LAMTOR1,LRTOMT,MIR3165,NUMA1,RNF121 chr1 171697318 171697422 Gain and loss Pancreatic cancer SNP array 17952125 VAMP4 chr11 71698463 71756829 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 IL18BP,NUMA1,RNF121 chr1 171700857 171712503 Gain and loss Pancreatic cancer SNP array 17952125 VAMP4 chr1 171708059 171708159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAMP4 chr11 71712761 71712835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL18BP chr1 171713084 171724567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 171713109 171724569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171713109 171724569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171714785 171724218 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 171723274 171723373 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 71727778 71727878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUMA1 chr1 17173584 17179760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 17173584 17179760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 171736227 171838856 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNM3,METTL13 chr1 171736227 171838856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3,METTL13 chr1 171736227 171838856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3,METTL13 chr1 171745434 171746505 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 17175001 17179000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 171768651 171848859 Gain and loss Pancreatic cancer SNP array 17952125 DNM3 chr11 71770001 71771500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NUMA1 chr1 171772334 171772429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 171774620 171774720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 7177488 7177567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 171778069 171826063 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNM3 chr1 171781454 171781530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 717850 718514 Copy number Autism exome sequencing 22495311 EPS8L2 chr1 17179001 17211500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3675 chr1 171796295 171814649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNM3 chr1 171802973 171804186 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 171810934 171811004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNM3 chr1 171812301 173355600 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf105,DNM3,DNM3OS,FASLG,LOC100506023,MIR199A2,MIR214,MIR3120,PIGC,SUCO,TNFSF18,TNFSF4 chr1 171844098 171905624 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNM3 chr1 171844098 171905624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 171844098 171905624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 17185040 17211010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3675 chr1 17185040 17211010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3675 chr1 171857780 171893547 Gain and loss Pancreatic cancer SNP array 17952125 DNM3 chr11 71864362 71864462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 171865909 171866009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNM3 chr1 171895860 171895962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr11 71898607 73759967 LOH Normal High-resolution SNP genotyping 21211785 ARAP1,ARHGEF17,ATG16L2,C2CD3,CHCHD8,CLPB,DNAJB13,FAM168A,FCHSD2,FOLR1,FOLR2,INPPL1,MIR139,MIR4692,MRPL48,P2RY2,P2RY6,PAAF1,PDE2A,PHOX2A,PLEKHB1,RAB6A,RELT,STARD10,UCP2,UCP3 chr1 171936289 171970634 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 DNM3 chr1 171950703 172022446 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNM3 chr1 171950703 172022446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 171950703 172022446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr11 71951634 71951694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PHOX2A chr11 71964832 72063060 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 CLPB chr11 71964834 72063113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLPB chr11 71964834 72063113 Gain and loss Pancreatic cancer SNP array 17952125 CLPB chr11 71964834 72063113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLPB chr1 171977436 171977685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 171977436 171977685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr11 71980493 72106059 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 CLPB chr1 171992017 171992117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNM3 chr11 72000000 73300000 Amplification Lung cancer Array-based CGH 19153074 ARAP1,ARHGEF17,ATG16L2,CLPB,FAM168A,FCHSD2,MIR139,MIR4692,P2RY2,P2RY6,PDE2A,RELT,STARD10 chr1 1 7200000 Amplification Lung cancer Factored likelihood HMM 17646330 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr1 1 7200000 Copy number Squamous cell cancer Real-time PCR 19047905 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr1 1 7200000 Deletion Ependymoma CGH 16718352 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr1 1 7200000 Deletion Glioblastoma multiforme Array CGH 16951158 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr1 1 7200000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr1 1 7200000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WASH7P,WRAP73,ZBTB48 chr1 172001372 172001404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNM3 chr11 72003755 72003822 Gain and loss Pancreatic cancer SNP array 17952125 CLPB chr11 72003755 72003822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLPB chr11 72013333 72089312 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 CLPB chr1 172014994 172987060 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf105,DNM3,DNM3OS,FASLG,MIR199A2,MIR214,MIR3120,PIGC,SUCO chr1 172023592 172107588 Gain and loss Pancreatic cancer SNP array 17952125 DNM3 chr1 172023592 172107588 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 DNM3 chr11 72025702 72025844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLPB chr1 172027309 172027648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172035310 172060649 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 DNM3 chr1 172035311 172060083 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNM3 chr1 172035311 172060083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172035311 172060083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172036779 172036864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNM3 chr11 72045676 72045741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLPB chr1 172051756 172051855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNM3 chr1 172060580 172094305 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 DNM3 chr1 172060581 172094305 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNM3 chr1 172060581 172094305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172060581 172094305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr11 72060992 72111028 Gain and loss Pancreatic cancer SNP array 17952125 CLPB chr11 72073763 72141095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLPB chr11 72073763 72141095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLPB chr1 172099907 172099983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172100130 172100206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172100588 172100669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172101109 172101193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172101383 172101447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172101729 172101789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172102062 172102129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172102395 172102476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172102640 172102699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172103432 172103511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172103843 172122397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3,DNM3OS,MIR199A2,MIR214,MIR3120 chr1 172103843 172122397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3,DNM3OS,MIR199A2,MIR214,MIR3120 chr1 172107770 172108770 Gain Cancer Human 24 color M-FISH 21215367 DNM3,DNM3OS,MIR214,MIR3120 chr1 172107770 172108770 Gain Chronic lymphocytic leukemia References 21215367 DNM3,DNM3OS,MIR214,MIR3120 chr11 72112160 72234378 Duplication Schizophrenia NimbleGen HD2 platform 21346763 CLPB chr1 17211501 17316500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP13A2,CROCC,MFAP2 chr11 7212573 7212644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 172139562 172153096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172139562 172153096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172142024 172310899 Gain Autism qPCR 20531469 DNM3 chr1 172143328 172209802 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 DNM3 chr1 172143328 172209802 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 DNM3 chr11 72143422 72182398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLPB chr11 72143422 72182398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLPB chr11 72143423 72182344 Gain and loss Pancreatic cancer SNP array 17952125 CLPB chr11 72154697 72154807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 72154697 72154808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 72154697 72154809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 72157700 79025590 Amplification Acute myeloid leukemia - 21251322 ACER3,ALG8,AQP11,ARAP1,ARHGEF17,ARRB1,ATG16L2,B3GNT6,C11orf30,C11orf67,C2CD3,CAPN5,CHCHD8,CHRDL2,CLNS1A,DGAT2,DNAJB13,FAM168A,FCHSD2,GAB2,GDPD4,GDPD5,GUCY2EP,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,LIPT2,LOC283214,LRRC32,MAP6,MIR139,MIR326,MIR4692,MIR4696,MOGAT2,MRPL48,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,ODZ4,OMP,OR2AT4,P2RY2,P2RY6,P4HA3,PAAF1,PAK1,PDE2A,PGM2L1,PLEKHB1,POLD3,PPME1,PRKRIR,RAB6A,RELT,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,STARD10,THRSP,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr1 172166975 172228833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172166975 172228833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr1 172172282 172204106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNM3 chr11 72177640 72178052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 17217811 17253252 Gain or loss Breast cancer - 20668451 CROCC chr1 17217811 17253252 Gain or loss Cancer - 20668451 CROCC chr1 17217811 17253252 Gain or loss Lung cancer - 20668451 CROCC chr1 17217811 17253252 Gain or loss Ovarian cancer - 20668451 CROCC chr1 17217811 17253252 Gain or loss Pancreas cancer - 20668451 CROCC chr1 17217811 17253252 Gain or loss Prostate cancer - 20668451 CROCC chr1 17217811 17253252 Genomic rearrangement Pheochromocytoma MLPA 19223516 CROCC chr1 17217817 17253252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CROCC chr1 17217817 17253252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CROCC chr1 172178240 172641658 Gain Normal 244K array 17666407 C1orf105,DNM3,FASLG,PIGC,SUCO chr11 72180901 74356700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARAP1,ARHGEF17,ATG16L2,C2CD3,CHCHD8,DNAJB13,FAM168A,FCHSD2,KCNE3,LIPT2,MIR139,MIR4692,MRPL48,P2RY2,P2RY6,P4HA3,PAAF1,PDE2A,PGM2L1,PLEKHB1,POLD3,PPME1,RAB6A,RELT,STARD10,UCP2,UCP3 chr11 72201501 72205500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 72203099 72218326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 72203099 72218326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 72203108 72218326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 172205079 172205197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr11 72205501 72209500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 17220596 24695231 Copy number Lung cancer paired-end sequencing 18438408 ACTL8,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ARHGEF10L,ASAP3,ATP13A2,C1QA,C1QB,C1QC,C1orf151-NBL1,C1orf213,CAMK2N1,CAPZB,CDA,CDC42,CELA3A,CELA3B,CNR2,CROCC,DDOST,E2F2,ECE1,EIF4G3,EMC1,EPHA8,EPHB2,FAM43B,FUCA1,GALE,GRHL3,HMGCL,HNRNPR,HP1BP3,HSPG2,HTR1D,HTR6,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,KDM1A,KIF17,KLHDC7A,LDLRAD2,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC729059,LUZP1,LYPLA2,MDS2,MFAP2,MINOS1,MIR3115,MIR378F,MIR4253,MIR4684,MIR4695,MRTO4,MUL1,MYOM3,NBL1,NBPF3,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PNRC2,PQLC2,RAP1GAP,RCC2,RNF186,RPL11,SDHB,SH2D5,SRSF10,STPG1,TAS1R2,TCEA3,TCEB3,TMCO4,UBR4,UBXN10,USP48,VWA5B1,WNT4,ZBTB40,ZNF436 chr11 72209501 72222000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 172211361 172211690 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNM3 chr11 72222001 72298000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDE2A chr11 72225439 72530739 Gain and loss Pancreatic cancer SNP array 17952125 ARAP1,ATG16L2,MIR139,MIR4692,PDE2A,STARD10 chr11 72225439 72530954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARAP1,ATG16L2,MIR139,MIR4692,PDE2A,STARD10 chr11 72225439 72530954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARAP1,ATG16L2,MIR139,MIR4692,PDE2A,STARD10 chr1 172234336 172267240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNM3 chr11 72235189 72235289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 172242568 172242667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNM3 chr11 72258237 72258343 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 72258237 72258343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 72278128 72429482 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARAP1,MIR139,PDE2A chr11 72286032 72286127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 7229757 7446844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT9 chr11 7229757 7446844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT9 chr11 72298001 72299000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDE2A chr11 72299001 72529500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARAP1,ATG16L2,MIR139,MIR4692,PDE2A,STARD10 chr11 7229994 7446844 Gain and loss Pancreatic cancer SNP array 17952125 SYT9 chr1 172325892 172326233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM3 chr11 72328663 72328752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE2A chr11 72341948 73434108 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARAP1,ARHGEF17,ATG16L2,FAM168A,FCHSD2,MIR4692,P2RY2,P2RY6,PDE2A,PLEKHB1,RAB6A,RELT,STARD10 chr11 72352048 72352080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE2A chr11 72368017 72368049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE2A chr1 172395171 173226353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf105,FASLG,LOC100506023,PIGC,SUCO,TNFSF18,TNFSF4 chr1 172395171 173226353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf105,FASLG,LOC100506023,PIGC,SUCO,TNFSF18,TNFSF4 chr11 723957 724054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPS8L2 chr1 172417282 172417382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf105 chr1 172435892 172435991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf105 chr11 72458687 72458787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARAP1 chr1 172465750 172543735 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SUCO chr11 72478516 72478616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD10 chr11 72487328 73242348 Copy number Lung cancer paired-end sequencing 18438408 ARHGEF17,ATG16L2,FAM168A,FCHSD2,MIR4692,P2RY2,P2RY6,RELT,STARD10 chr1 172499514 172533332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUCO chr11 72526745 72571455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATG16L2,FCHSD2 chr1 17255149 17265567 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CROCC chr11 72557476 72557576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FCHSD2 chr1 172578136 172581256 Gain and loss Pancreatic cancer SNP array 17952125 SUCO chr11 7260075 7260114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 172602867 172603800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 72605001 72630000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FCHSD2 chr11 72606991 72625043 Gain or loss Breast cancer - 20668451 FCHSD2 chr11 72606991 72625043 Gain or loss Cancer - 20668451 FCHSD2 chr11 72606991 72625043 Gain or loss Lung cancer - 20668451 FCHSD2 chr11 72606991 72625043 Gain or loss Ovarian cancer - 20668451 FCHSD2 chr11 72606991 72625043 Gain or loss Pancreas cancer - 20668451 FCHSD2 chr11 72606991 72625043 Gain or loss Prostate cancer - 20668451 FCHSD2 chr11 72606992 72625041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2 chr11 72606992 72625041 Gain and loss Pancreatic cancer SNP array 17952125 FCHSD2 chr11 72606992 72625041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2 chr1 172617906 172617990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 72618009 72640561 Loss Normal Quantitative PCR 18989455 FCHSD2 chr1 172632928 173462394 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 FASLG,LOC100506023,PRDX6,TNFSF18,TNFSF4 chr11 72633532 74080256 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF17,C2CD3,CHCHD8,DNAJB13,FAM168A,FCHSD2,MRPL48,P2RY2,P2RY6,P4HA3,PAAF1,PGM2L1,PLEKHB1,PPME1,RAB6A,RELT,UCP2,UCP3 chr11 72642382 72674160 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCHSD2 chr1 172643053 172643153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 72646963 73804130 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF17,C2CD3,CHCHD8,DNAJB13,FAM168A,FCHSD2,MRPL48,P2RY2,P2RY6,PAAF1,PLEKHB1,RAB6A,RELT,UCP2,UCP3 chr11 72646963 73867292 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF17,C2CD3,CHCHD8,DNAJB13,FAM168A,FCHSD2,MRPL48,P2RY2,P2RY6,PAAF1,PLEKHB1,RAB6A,RELT,UCP2,UCP3 chr11 72653001 72661500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FCHSD2 chr11 72653217 72687312 Gain or loss Breast cancer - 20668451 FCHSD2 chr11 72653217 72687312 Gain or loss Cancer - 20668451 FCHSD2 chr11 72653217 72687312 Gain or loss Lung cancer - 20668451 FCHSD2 chr11 72653217 72687312 Gain or loss Ovarian cancer - 20668451 FCHSD2 chr11 72653217 72687312 Gain or loss Pancreas cancer - 20668451 FCHSD2 chr11 72653217 72687312 Gain or loss Prostate cancer - 20668451 FCHSD2 chr11 72653218 72686498 Gain and loss Pancreatic cancer SNP array 17952125 FCHSD2 chr11 72653218 72687292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2 chr11 72653218 72687292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2 chr1 172656985 172657068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 172658266 172658351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 17265843 17318535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP13A2,CROCC,MFAP2 chr1 17265843 17318535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP13A2,CROCC,MFAP2 chr1 172664205 172664305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 72674001 72689000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FCHSD2 chr1 172683835 172685306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 172683835 172685306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 172687730 172908027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 72694001 72792500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FCHSD2 chr11 72697317 72757783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2 chr11 72697317 72757783 Gain and loss Pancreatic cancer SNP array 17952125 FCHSD2 chr11 72697317 72757783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2 chr1 172732928 172733028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 72765053 72786166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2 chr11 72765053 72786166 Gain and loss Pancreatic cancer SNP array 17952125 FCHSD2 chr11 72765053 72786166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2 chr1 17276927 17317805 Gain and loss Pancreatic cancer SNP array 17952125 ATP13A2,CROCC,MFAP2 chr11 72794677 72986876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2,P2RY2,P2RY6 chr11 72794677 72986876 Gain and loss Pancreatic cancer SNP array 17952125 FCHSD2,P2RY2,P2RY6 chr11 72794677 72986876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCHSD2,P2RY2,P2RY6 chr1 172800 176700 Copy number Lymphoma KC-SMARTR 21070656 NOT_FOUND chr11 72800501 73013500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FCHSD2,P2RY2,P2RY6 chr1 172801008 172801108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 172805757 172805857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 172814342 172814428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 7282688 7282788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT9 chr11 72833519 72833563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FCHSD2 chr11 72849087 72849187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FCHSD2 chr1 172857999 172858075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 172881723 172881798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 72881847 72917171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 72894955 73808306 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF17,C2CD3,CHCHD8,DNAJB13,FAM168A,MRPL48,P2RY2,P2RY6,PAAF1,PLEKHB1,RAB6A,RELT,UCP2,UCP3 chr1 172900000 185800000 Amplification Hepatocellular carcinoma Array CGH 16750200 ABL2,ACBD6,ANGPTL1,ANKRD45,APOBEC4,ARPC5,ASTN1,AXDND1,C1orf21,C1orf220,CACNA1E,CACYBP,CENPL,CEP350,DARS2,DHX9,EDEM3,FAM129A,FAM163A,FAM20B,FAM5B,FLJ23867,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GPR52,HMCN1,IER5,IVNS1ABP,KIAA0040,KIAA1614,KLHL20,LAMC1,LAMC2,LHX4,LINC00272,LOC100288079,LOC100506023,LOC100527964,LOC284648,LOC730102,LOC730159,MIR3121,MIR4424,MIR488,MR1,MRPS14,NCF2,NMNAT2,NPHS2,NPL,PAPPA2,PRDX6,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RFWD2,RGL1,RGS16,RGS8,RGSL1,RNASEL,RNF2,SCARNA3,SEC16B,SERPINC1,SHCBP1L,SLC9C2,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,STX6,SWT1,TDRD5,TEDDM1,TEX35,TNFSF18,TNFSF4,TNN,TNR,TOR1AIP1,TOR1AIP2,TOR3A,TRMT1L,TSEN15,XPR1,ZBTB37,ZNF648 chr1 172900000 185800000 Deletion Cancer Array CGH 17440070 ABL2,ACBD6,ANGPTL1,ANKRD45,APOBEC4,ARPC5,ASTN1,AXDND1,C1orf21,C1orf220,CACNA1E,CACYBP,CENPL,CEP350,DARS2,DHX9,EDEM3,FAM129A,FAM163A,FAM20B,FAM5B,FLJ23867,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GPR52,HMCN1,IER5,IVNS1ABP,KIAA0040,KIAA1614,KLHL20,LAMC1,LAMC2,LHX4,LINC00272,LOC100288079,LOC100506023,LOC100527964,LOC284648,LOC730102,LOC730159,MIR3121,MIR4424,MIR488,MR1,MRPS14,NCF2,NMNAT2,NPHS2,NPL,PAPPA2,PRDX6,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RFWD2,RGL1,RGS16,RGS8,RGSL1,RNASEL,RNF2,SCARNA3,SEC16B,SERPINC1,SHCBP1L,SLC9C2,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,STX6,SWT1,TDRD5,TEDDM1,TEX35,TNFSF18,TNFSF4,TNN,TNR,TOR1AIP1,TOR1AIP2,TOR3A,TRMT1L,TSEN15,XPR1,ZBTB37,ZNF648 chr1 172900000 185800000 Gain Glioblastoma multiforme FISH and array CGH 17369134 ABL2,ACBD6,ANGPTL1,ANKRD45,APOBEC4,ARPC5,ASTN1,AXDND1,C1orf21,C1orf220,CACNA1E,CACYBP,CENPL,CEP350,DARS2,DHX9,EDEM3,FAM129A,FAM163A,FAM20B,FAM5B,FLJ23867,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GPR52,HMCN1,IER5,IVNS1ABP,KIAA0040,KIAA1614,KLHL20,LAMC1,LAMC2,LHX4,LINC00272,LOC100288079,LOC100506023,LOC100527964,LOC284648,LOC730102,LOC730159,MIR3121,MIR4424,MIR488,MR1,MRPS14,NCF2,NMNAT2,NPHS2,NPL,PAPPA2,PRDX6,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RFWD2,RGL1,RGS16,RGS8,RGSL1,RNASEL,RNF2,SCARNA3,SEC16B,SERPINC1,SHCBP1L,SLC9C2,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,STX6,SWT1,TDRD5,TEDDM1,TEX35,TNFSF18,TNFSF4,TNN,TNR,TOR1AIP1,TOR1AIP2,TOR3A,TRMT1L,TSEN15,XPR1,ZBTB37,ZNF648 chr1 172900000 236600000 Gain Endometrioid adenocarcinoma CGH 16974079 ABCB10,ABL2,ACBD3,ACBD6,ACTA1,ADCK3,ADIPOR1,ADORA1,AGT,AIDA,ANGEL2,ANGPTL1,ANKRD45,APOBEC4,ARF1,ARID4B,ARL8A,ARPC5,ARV1,ASCL5,ASPM,ASTN1,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,BATF3,BPNT1,BROX,BTG2,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf21,C1orf220,C1orf227,C1orf27,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1E,CACNA1S,CACYBP,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CENPL,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNIH3,CNIH4,CNTN2,COG2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DARS2,DDX59,DEGS1,DENND1B,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EDEM3,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXOC8,F13B,FAIM3,FAM129A,FAM163A,FAM177B,FAM20B,FAM58BP,FAM5B,FAM5C,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FLJ23867,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GALNT2,GAS5,GAS5-AS1,GGPS1,GJC2,GLRX2,GLT25D2,GLUL,GM140,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GPR52,GUK1,H3F3A,H3F3AP4,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HSD11B1,IARS2,IBA57,IER5,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,IVNS1ABP,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,KLHL20,LAD1,LAMB3,LAMC1,LAMC2,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100131234,LOC100288079,LOC100506023,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC284648,LOC401980,LOC440704,LOC641515,LOC643723,LOC728463,LOC730102,LOC730159,LOC730227,LPGAT1,LRRN2,LYPLAL1,LYST,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR1278,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3121,MIR3122,MIR320B2,MIR3620,MIR4260,MIR4424,MIR4427,MIR4666A,MIR4671,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5191,MIR548F1,MIR664,MIXL1,MR1,MRPL55,MRPS14,MYBPH,MYOG,NAV1,NCF2,NEK2,NEK7,NENF,NFASC,NID1,NMNAT2,NPHS2,NPL,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OCLM,OPTC,PAPPA2,PARP1,PCNXL2,PDC,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRDX6,PRELP,PRG4,PROX1,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,QSOX1,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM34,RC3H1,RCOR3,RD3,REN,RFWD2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS8,RGSL1,RHOU,RNASEL,RNF187,RNF2,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,RRP15,SCARNA3,SDE2,SEC16B,SERPINC1,SERTAD4,SERTAD4-AS1,SHCBP1L,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SLC9C2,SMG7,SMG7-AS1,SMYD2,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SOAT1,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,STX6,SUSD4,SWT1,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TDRD5,TEDDM1,TEX35,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TRMT1L,TROVE2,TSEN15,TSNAX,TSNAX-DISC1,TTC13,UBE2T,UCHL5,URB2,USH2A,VASH2,WDR26,WNT3A,WNT9A,XPR1,YOD1,ZBED6,ZBTB37,ZBTB41,ZC3H11A,ZNF281,ZNF648,ZNF678,ZNF847P chr1 172918335 172918395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 172931992 172932527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1 729543 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11L1,FAM138A,FAM138F,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P chr1 172968619 172968719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 172992611 172992880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 73003424 73003473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 P2RY6 chr11 73006273 73006373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 P2RY6 chr11 73022248 73051510 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF17 chr11 73023592 73051510 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF17 chr11 73023592 73051510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF17 chr11 73023592 73051510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF17 chr11 73028223 73740133 Amplification Breast cancer FISH 17142309 ARHGEF17,CHCHD8,DNAJB13,FAM168A,MRPL48,PAAF1,PLEKHB1,RAB6A,RELT,UCP2,UCP3 chr1 173029506 173029635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 173048252 173061688 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 173049146 173078950 Copy number Parkinson disease PennCNV and QuantiSNP 21829596 NOT_FOUND chr11 73053197 73053301 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF17 chr11 73053209 73053301 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF17 chr1 173061201 173070300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 173062889 173063028 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 173063028 173063179 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 173063179 173068463 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 173063180 173068467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 73064342 73149849 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF17,FAM168A,RELT chr11 73064342 73149849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF17,FAM168A,RELT chr11 73064342 73149849 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF17,FAM168A,RELT chr11 73064342 73149849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF17,FAM168A,RELT chr11 73065836 73110547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGEF17,RELT chr1 173068463 173068477 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 173068477 173068543 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 173068543 173068630 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 73079329 73079429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF17 chr11 73080275 73349845 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARHGEF17,FAM168A,RELT chr11 73080275 73349845 Copy number gain Normal High-resolution SNP genotyping 21211785 ARHGEF17,FAM168A,RELT chr1 173085428 173085929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 73090662 73289168 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 FAM168A,RELT chr11 73104001 73345500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM168A,RELT chr11 73105141 73349845 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM168A,RELT chr11 73105141 73349845 Copy number gain Normal High-resolution SNP genotyping 21211785 FAM168A,RELT chr11 73107411 73107484 Loss Autism 1M Ailent CGH whole-genome array 21865298 RELT chr11 73110152 73353407 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM168A chr11 73110152 73353407 Copy number gain Normal High-resolution SNP genotyping 21211785 FAM168A chr1 173128177 173128915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 173137504 173137604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 173157867 173158200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFSF4 chr1 173163964 173543625 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506023,PRDX6,SLC9C2,TNFSF4 chr1 173163964 173543625 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 LOC100506023,PRDX6,SLC9C2,TNFSF4 chr1 17316501 17321500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP13A2 chr11 73176009 73253304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM168A chr11 73176009 73253304 Gain and loss Pancreatic cancer SNP array 17952125 FAM168A chr11 73176572 73253304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168A chr11 73186507 73221691 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM168A chr1 173193507 173560898 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 LOC100506023,PRDX6,SLC9C2 chr1 173205575 173205675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506023 chr1 17320899 17356031 Gain and loss Pancreatic cancer SNP array 17952125 ATP13A2,SDHB chr1 173211036 173658364 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD45,LOC100506023,LOC730159,PRDX6,SLC9C2 chr1 17321501 17382500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP13A2,SDHB chr11 73221051 73221383 Gain and loss Pancreatic cancer SNP array 17952125 FAM168A chr11 73221070 73221383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168A chr11 73221144 73221383 Gain and loss Pancreatic cancer SNP array 17952125 FAM168A chr1 173232284 173232388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr11 73232409 73232509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM168A chr1 173235193 173247786 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 LOC100506023 chr1 173235194 173247786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr1 173235194 173247786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr1 173235894 173396827 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 LOC100506023 chr1 173249750 173259184 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 LOC100506023 chr1 173249751 173259184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr1 173249751 173259184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr11 73258098 85430854 Copy number Lung cancer paired-end sequencing 18438408 ACER3,ALG8,ANKRD42,AQP11,ARRB1,B3GNT6,C11orf30,C11orf67,C11orf82,C2CD3,CAPN5,CCDC89,CCDC90B,CHCHD8,CHRDL2,CLNS1A,CREBZF,DGAT2,DLG2,DNAJB13,FAM168A,FAM181B,GAB2,GDPD4,GDPD5,GUCY2EP,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,LIPT2,LOC100506233,LOC283214,LRRC32,MAP6,MIR326,MIR4300,MIR4696,MIR5579,MIR708,MOGAT2,MRPL48,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,ODZ4,OMP,OR2AT4,P4HA3,PAAF1,PAK1,PCF11,PGM2L1,PLEKHB1,POLD3,PPME1,PRCP,PRKRIR,RAB30,RAB6A,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SPCS2,SYTL2,THRSP,TMEM126A,TMEM126B,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr1 173258238 173258339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr1 173259630 173259694 Copy number Normal Paralogue Ratio Test systems 17175532 LOC100506023 chr1 173259808 173529987 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC100506023,PRDX6,SLC9C2 chr1 173259808 173529987 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC100506023,PRDX6,SLC9C2 chr11 73261360 73265550 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM168A chr11 73261363 73265538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM168A chr11 73261363 73265538 Gain and loss Pancreatic cancer SNP array 17952125 FAM168A chr11 73261363 73265538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168A chr11 73265681 73316427 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM168A chr11 73265681 73316427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM168A chr11 73265681 73316427 Gain and loss Pancreatic cancer SNP array 17952125 FAM168A chr11 73265681 73316427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168A chr11 732745 734077 Loss Normal 244K array 17666407 NOT_FOUND chr1 173280385 173281603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr11 73286496 73375966 Loss Lung cancer Array CGH 21203850 FAM168A,PLEKHB1 chr1 173303612 173383825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr1 173303612 173383825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506023 chr1 173308352 173352667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100506023 chr1 173314995 173346400 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100506023 chr1 173317061 173317576 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506023 chr1 173317061 173317576 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 LOC100506023 chr11 73339012 73358980 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLEKHB1 chr11 73339012 73358980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHB1 chr11 73339012 73358980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHB1 chr11 73339012 73359059 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHB1 chr11 73353001 73372500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHB1 chr11 73353668 73358743 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHB1 chr1 173355601 174139900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD45,CENPL,DARS2,GAS5,GAS5-AS1,KLHL20,LOC100506023,LOC730159,PRDX6,RABGAP1L,RC3H1,SERPINC1,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr1 173358215 173358266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100506023 chr11 73363360 73372000 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLEKHB1 chr11 73363360 73372000 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHB1 chr11 73363364 73371537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHB1 chr11 73363364 73371537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHB1 chr11 73379969 73380853 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 173382002 173382102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506023 chr1 173383168 173383771 Gain Normal 244K array 17666407 LOC100506023 chr1 173386748 173386847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506023 chr11 73388985 73397778 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAB6A chr11 73388985 73397778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB6A chr11 73388985 73397778 Gain and loss Pancreatic cancer SNP array 17952125 RAB6A chr11 73388985 73397778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB6A chr11 73392501 73408500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAB6A chr11 73400269 73761415 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2CD3,CHCHD8,DNAJB13,MRPL48,PAAF1,RAB6A,UCP2,UCP3 chr11 73401413 73492291 Gain and loss Pancreatic cancer SNP array 17952125 RAB6A chr11 73401416 73422858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB6A chr11 73402078 73422858 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAB6A chr11 73423128 73559712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL48,RAB6A chr11 73423128 73559712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL48,RAB6A chr11 73423188 73559526 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MRPL48,RAB6A chr11 73434108 74280532 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C2CD3,CHCHD8,DNAJB13,KCNE3,LIPT2,MRPL48,P4HA3,PAAF1,PGM2L1,PPME1,RAB6A,UCP2,UCP3 chr11 73439405 73439970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAB6A chr11 73455534 76602768 Copy number Lung cancer paired-end sequencing 18438408 ACER3,ARRB1,C11orf30,C2CD3,CHCHD8,CHRDL2,DGAT2,DNAJB13,GDPD5,GUCY2EP,KCNE3,KLHL35,LIPT2,LOC283214,LRRC32,MAP6,MIR326,MIR4696,MOGAT2,MRPL48,NEU3,OR2AT4,P4HA3,PAAF1,PGM2L1,POLD3,PPME1,PRKRIR,RAB6A,RNF169,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,TPBGL,TSKU,UCP2,UCP3,UVRAG,WNT11,XRRA1 chr11 73460310 90593910 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACER3,ALG8,ANKRD42,AQP11,ARRB1,B3GNT6,C11orf30,C11orf67,C11orf73,C11orf82,C2CD3,CAPN5,CCDC81,CCDC83,CCDC89,CCDC90B,CHCHD8,CHORDC1,CHRDL2,CLNS1A,CREBZF,CTSC,DGAT2,DLG2,DNAJB13,EED,FAM181B,FOLH1B,FZD4,GAB2,GDPD4,GDPD5,GRM5,GRM5-AS1,GUCY2EP,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,LIPT2,LOC100506233,LOC100506368,LOC283214,LRRC32,MAP6,ME3,MIR326,MIR4300,MIR4490,MIR4696,MIR5579,MIR5692A1,MIR708,MOGAT2,MRPL48,MYO7A,NAALAD2,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,NOX4,ODZ4,OMP,OR2AT4,OR7E2P,P4HA3,PAAF1,PAK1,PCF11,PGM2L1,PICALM,POLD3,PPME1,PRCP,PRKRIR,PRSS23,RAB30,RAB38,RAB6A,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SPCS2,SYTL2,THRSP,TMEM126A,TMEM126B,TMEM135,TPBGL,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TSKU,TYR,UBTFL1,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr11 73501894 73559650 Gain and loss Pancreatic cancer SNP array 17952125 MRPL48 chr11 73508680 83480119 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACER3,ALG8,ANKRD42,AQP11,ARRB1,B3GNT6,C11orf30,C11orf67,C11orf82,C2CD3,CAPN5,CCDC90B,CHCHD8,CHRDL2,CLNS1A,DGAT2,DLG2,DNAJB13,FAM181B,GAB2,GDPD4,GDPD5,GUCY2EP,INTS4,KCNE3,KCTD14,KCTD21,KLHL35,LIPT2,LOC100506233,LOC283214,LRRC32,MAP6,MIR326,MIR4300,MIR4696,MIR5579,MIR708,MOGAT2,MRPL48,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,ODZ4,OMP,OR2AT4,P4HA3,PAAF1,PAK1,PCF11,PGM2L1,POLD3,PPME1,PRCP,PRKRIR,RAB30,RNF169,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SPCS2,THRSP,TPBGL,TSKU,UCP2,UCP3,USP35,UVRAG,WNT11,XRRA1 chr11 73524089 73557067 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRPL48 chr1 173532839 173533000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9C2 chr1 173544114 173589478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD45,SLC9C2 chr1 17355039 17366718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SDHB chr1 173555959 174004791 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD45,CENPL,DARS2,GAS5,GAS5-AS1,KLHL20,LOC730159,RC3H1,SERPINC1,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr1 173558558 173979529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD45,CENPL,DARS2,GAS5,GAS5-AS1,KLHL20,LOC730159,RC3H1,SERPINC1,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr1 173558558 173979529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD45,CENPL,DARS2,GAS5,GAS5-AS1,KLHL20,LOC730159,RC3H1,SERPINC1,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr11 73559946 73644654 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHCHD8,MRPL48,PAAF1 chr11 73559946 73659130 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD8,MRPL48,PAAF1 chr11 73560005 73644654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHCHD8,MRPL48,PAAF1 chr1 173561861 173865681 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD45,CENPL,DARS2,GAS5,GAS5-AS1,KLHL20,LOC730159,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr1 173561861 173865681 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 ANKRD45,CENPL,DARS2,GAS5,GAS5-AS1,KLHL20,LOC730159,SLC9C2,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr11 73565215 74235245 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2CD3,CHCHD8,DNAJB13,KCNE3,LIPT2,MRPL48,P4HA3,PAAF1,PGM2L1,PPME1,UCP2,UCP3 chr1 173570392 173570482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9C2 chr11 73572408 73572539 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MRPL48 chr11 73572408 73572539 Gain and loss Pancreatic cancer SNP array 17952125 MRPL48 chr11 73572408 73572539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL48 chr1 17358240 17382532 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SDHB chr11 73587431 73587546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHCHD8 chr11 73587438 73587542 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD8 chr11 73587458 73587547 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD8 chr1 173594801 173594949 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD45 chr11 73619081 73643395 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAAF1 chr11 73619081 73643395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAAF1 chr11 73619081 73643395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAAF1 chr1 173638946 173638946 Copy number Prostate cancer Illumina GA II sequencer 21307934 ANKRD45 chr11 73641107 73641245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 73641107 73641245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 73655350 73700347 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAJB13,UCP2 chr11 73655350 73700347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJB13,UCP2 chr11 73655350 73700347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJB13,UCP2 chr11 73655351 73700347 Gain and loss Pancreatic cancer SNP array 17952125 DNAJB13,UCP2 chr1 173682337 173682437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 173697431 174042461 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CENPL,DARS2,GAS5,GAS5-AS1,KLHL20,RC3H1,SERPINC1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr1 173697478 174026214 Gain Autism Exome sequencing and CGH 22495309 CENPL,DARS2,GAS5,GAS5-AS1,KLHL20,RC3H1,SERPINC1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr11 73700601 73706900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 73702554 73705035 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 73719009 73787110 Gain and loss Pancreatic cancer SNP array 17952125 C2CD3,UCP3 chr11 73719009 73787150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C2CD3,UCP3 chr11 73719009 73787150 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 C2CD3,UCP3 chr11 73719009 73787150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2CD3,UCP3 chr11 73719009 73787150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD3,UCP3 chr1 173730156 173730238 Gain and loss Pancreatic cancer SNP array 17952125 KLHL20 chr1 173730156 173730238 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 KLHL20 chr11 737431 755024 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TALDO1 chr11 737432 755023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TALDO1 chr11 737432 755023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TALDO1 chr11 73753334 73753434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2CD3 chr1 173757980 183977517 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ABL2,ACBD6,ANGPTL1,APOBEC4,ARPC5,ASTN1,AXDND1,C1orf220,CACNA1E,CACYBP,CENPL,CEP350,DARS2,DHX9,FAM163A,FAM20B,FAM5B,FLJ23867,GAS5,GAS5-AS1,GLT25D2,GLUL,GM140,GPR52,IER5,KIAA0040,KIAA1614,LAMC1,LAMC2,LHX4,LINC00272,LOC100527964,LOC284648,LOC730102,MIR3121,MIR4424,MIR488,MR1,MRPS14,NCF2,NMNAT2,NPHS2,NPL,PAPPA2,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RC3H1,RFWD2,RGL1,RGS16,RGS8,RGSL1,RNASEL,SCARNA3,SEC16B,SERPINC1,SHCBP1L,SMG7,SMG7-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SOAT1,STX6,TDRD5,TEDDM1,TEX35,TNN,TNR,TOR1AIP1,TOR1AIP2,TOR3A,XPR1,ZBTB37,ZNF648 chr1 173792113 175181645 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CACYBP,CENPL,DARS2,GAS5,GAS5-AS1,GPR52,KIAA0040,MRPS14,RABGAP1L,RC3H1,SERPINC1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,TNN,ZBTB37 chr1 17379531 17379631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SDHB chr1 17379998 17435801 Gain and loss Pancreatic cancer SNP array 17952125 PADI2,SDHB chr11 73813510 73859065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2CD3 chr1 173820702 173842215 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DARS2,GAS5,GAS5-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr11 73822706 73823052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C2CD3 chr1 173822848 173842215 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DARS2,GAS5,GAS5-AS1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 chr1 17382501 17481000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PADI2 chr11 73835682 73835751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2CD3 chr11 73837835 74474912 LOH Normal High-resolution SNP genotyping 21211785 C2CD3,CHRDL2,KCNE3,LIPT2,MIR4696,P4HA3,PGM2L1,POLD3,PPME1,RNF169 chr11 73843534 73856248 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C2CD3 chr11 73843534 73856248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2CD3 chr11 73843534 73856248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD3 chr11 73843806 73850798 Gain and loss Pancreatic cancer SNP array 17952125 C2CD3 chr11 7385156 7385486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYT9 chr1 173872188 173983209 Gain and loss Pancreatic cancer SNP array 17952125 RC3H1,SERPINC1 chr1 173872188 173983209 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 RC3H1,SERPINC1 chr11 73876206 73876306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2CD3 chr11 73880403 73882396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD3,PPME1 chr11 73880571 73882403 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C2CD3,PPME1 chr11 73880828 73882396 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C2CD3,PPME1 chr11 73880828 73882396 Gain and loss Pancreatic cancer SNP array 17952125 C2CD3,PPME1 chr11 73882133 73886934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPME1 chr11 73882133 73886934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPME1 chr11 73885881 73886777 Gain and loss Pancreatic cancer SNP array 17952125 PPME1 chr1 17388865 17396699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PADI2 chr1 17388865 17396699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PADI2 chr1 17393368 17393468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PADI2 chr11 73947507 73947607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPME1 chr11 73955698 73955765 Gain and loss Pancreatic cancer SNP array 17952125 PPME1 chr11 73955698 73955765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPME1 chr11 73955768 73955829 Gain and loss Pancreatic cancer SNP array 17952125 PPME1 chr11 73955768 73955829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPME1 chr11 73981277 74031413 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 P4HA3 chr11 73981277 74031413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P4HA3 chr11 73981277 74031413 Gain and loss Pancreatic cancer SNP array 17952125 P4HA3 chr11 73981277 74031413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HA3 chr11 73981558 73981793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 P4HA3 chr11 73981560 73981678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 P4HA3 chr1 17398421 17398473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PADI2 chr1 17401898 17430014 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PADI2 chr1 174025849 174709796 LOH Normal High-resolution SNP genotyping 21211785 GPR52,RABGAP1L chr1 17403436 17414773 Gain and loss Pancreatic cancer SNP array 17952125 PADI2 chr1 174037814 174072828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 74041830 74041910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGM2L1 chr1 17404208 17445088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PADI2 chr1 17404208 17445088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PADI2 chr1 174044402 174089292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 74048114 74048214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGM2L1 chr11 74058001 74110500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PGM2L1 chr1 17407173 17412270 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PADI2 chr11 74073917 74074213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGM2L1 chr11 74073917 74074248 Gain and loss Pancreatic cancer SNP array 17952125 PGM2L1 chr11 74073918 74074156 Gain and loss Pancreatic cancer SNP array 17952125 PGM2L1 chr11 74083212 74083312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGM2L1 chr11 74085122 74119875 Gain and loss Pancreatic cancer SNP array 17952125 PGM2L1 chr11 74085123 74119855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PGM2L1 chr11 74085123 74119855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGM2L1 chr11 74085123 74119855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGM2L1 chr11 74087037 74087517 Gain and loss Pancreatic cancer SNP array 17952125 PGM2L1 chr11 74087037 74087517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGM2L1 chr1 174098656 174792564 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 GPR52,RABGAP1L chr11 74105380 74105442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGM2L1 chr11 74112432 74677338 LOH Normal High-resolution SNP genotyping 21211785 CHRDL2,KCNE3,LIPT2,MIR4696,POLD3,RNF169,SPCS2,XRRA1 chr11 74112432 74982047 LOH Normal High-resolution SNP genotyping 21211785 ARRB1,CHRDL2,KCNE3,LIPT2,MIR4696,NEU3,OR2AT4,POLD3,RNF169,SLCO2B1,SPCS2,TPBGL,XRRA1 chr11 74134409 74134807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74134409 74134807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74137561 74231095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNE3,LIPT2 chr11 74137561 74231095 Gain and loss Pancreatic cancer SNP array 17952125 KCNE3,LIPT2 chr11 74137561 74231105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNE3,LIPT2 chr11 74137561 74231105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNE3,LIPT2 chr1 174140762 174418117 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPR52,RABGAP1L chr11 74142167 74142277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 174157734 174157904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RABGAP1L chr1 174157734 174157904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABGAP1L chr1 174165349 175262053 LOH Normal High-resolution SNP genotyping 21211785 CACYBP,GPR52,KIAA0040,MRPS14,RABGAP1L,TNN chr11 74177476 74177576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNE3 chr1 174180589 174442993 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 GPR52,RABGAP1L chr1 174180589 174442993 Gain or loss Breast cancer - 20668451 GPR52,RABGAP1L chr1 174180589 174442993 Gain or loss Cancer - 20668451 GPR52,RABGAP1L chr1 174180589 174442993 Gain or loss Lung cancer - 20668451 GPR52,RABGAP1L chr1 174180589 174442993 Gain or loss Ovarian cancer - 20668451 GPR52,RABGAP1L chr1 174180589 174442993 Gain or loss Pancreas cancer - 20668451 GPR52,RABGAP1L chr1 174180589 174442993 Gain or loss Prostate cancer - 20668451 GPR52,RABGAP1L chr1 174180590 174442993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR52,RABGAP1L chr1 174180590 174442993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR52,RABGAP1L chr1 174204157 174204299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABGAP1L chr1 17420821 17422420 Loss or gain Normal 244K array 17666407 PADI2 chr11 74210053 74210371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 74229604 74337813 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 POLD3 chr11 74229604 74337813 Gain and loss Pancreatic cancer SNP array 17952125 POLD3 chr11 74229604 74337880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLD3 chr11 74229604 74337880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLD3 chr11 74234603 74234904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74234604 74234895 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74234604 74234895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74253501 74254500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 74280532 74553572 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHRDL2,MIR4696,POLD3,RNF169,XRRA1 chr1 174300000 178600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASTN1,C1orf220,CACYBP,FAM5B,GPR52,KIAA0040,LOC730102,MIR488,MRPS14,PAPPA2,RABGAP1L,RASAL2,RASAL2-AS1,RFWD2,SCARNA3,SEC16B,TEX35,TNN,TNR chr1 174300000 178600000 Copy number Normal - 20680643 ASTN1,C1orf220,CACYBP,FAM5B,GPR52,KIAA0040,LOC730102,MIR488,MRPS14,PAPPA2,RABGAP1L,RASAL2,RASAL2-AS1,RFWD2,SCARNA3,SEC16B,TEX35,TNN,TNR chr1 174300000 178600000 Copy number Normal - 21701786 ASTN1,C1orf220,CACYBP,FAM5B,GPR52,KIAA0040,LOC730102,MIR488,MRPS14,PAPPA2,RABGAP1L,RASAL2,RASAL2-AS1,RFWD2,SCARNA3,SEC16B,TEX35,TNN,TNR chr1 174300000 178600000 Duplication Autism high-density microarrays 22241247 ASTN1,C1orf220,CACYBP,FAM5B,GPR52,KIAA0040,LOC730102,MIR488,MRPS14,PAPPA2,RABGAP1L,RASAL2,RASAL2-AS1,RFWD2,SCARNA3,SEC16B,TEX35,TNN,TNR chr1 174300000 184000000 Amplification Non-small cell lung cancer - 21385341 ABL2,ACBD6,ANGPTL1,APOBEC4,ARPC5,ASTN1,AXDND1,C1orf220,CACNA1E,CACYBP,CEP350,DHX9,FAM163A,FAM20B,FAM5B,FLJ23867,GLT25D2,GLUL,GM140,GPR52,IER5,KIAA0040,KIAA1614,LAMC1,LAMC2,LHX4,LINC00272,LOC100527964,LOC284648,LOC730102,MIR3121,MIR4424,MIR488,MR1,MRPS14,NCF2,NMNAT2,NPHS2,NPL,PAPPA2,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RFWD2,RGL1,RGS16,RGS8,RGSL1,RNASEL,SCARNA3,SEC16B,SHCBP1L,SMG7,SMG7-AS1,SOAT1,STX6,TDRD5,TEDDM1,TEX35,TNN,TNR,TOR1AIP1,TOR1AIP2,TOR3A,XPR1,ZNF648 chr1 174300000 184000000 Gain Breast cancer - 16397240 ABL2,ACBD6,ANGPTL1,APOBEC4,ARPC5,ASTN1,AXDND1,C1orf220,CACNA1E,CACYBP,CEP350,DHX9,FAM163A,FAM20B,FAM5B,FLJ23867,GLT25D2,GLUL,GM140,GPR52,IER5,KIAA0040,KIAA1614,LAMC1,LAMC2,LHX4,LINC00272,LOC100527964,LOC284648,LOC730102,MIR3121,MIR4424,MIR488,MR1,MRPS14,NCF2,NMNAT2,NPHS2,NPL,PAPPA2,QSOX1,RABGAP1L,RALGPS2,RASAL2,RASAL2-AS1,RFWD2,RGL1,RGS16,RGS8,RGSL1,RNASEL,SCARNA3,SEC16B,SHCBP1L,SMG7,SMG7-AS1,SOAT1,STX6,TDRD5,TEDDM1,TEX35,TNN,TNR,TOR1AIP1,TOR1AIP2,TOR3A,XPR1,ZNF648 chr1 174333025 174333193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr11 74336874 74337034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POLD3 chr11 74337966 74366427 Gain and loss Pancreatic cancer SNP array 17952125 POLD3 chr11 74337975 74366427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLD3 chr11 74337975 74366427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLD3 chr11 74337978 74367437 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 POLD3 chr11 74356701 75216900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARRB1,CHRDL2,GDPD5,KLHL35,MIR326,MIR4696,NEU3,OR2AT4,RNF169,RPS3,SLCO2B1,SNORD15A,SNORD15B,SPCS2,TPBGL,XRRA1 chr11 74356882 74356985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74356886 74356985 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74356888 74356985 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74376827 74396389 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 74376827 74396389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74376827 74396389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74377251 74395777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 174379538 174379620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr11 74392853 74392937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 174397802 174397902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr1 174399573 174399573 Copy number Prostate cancer Illumina GA II sequencer 21307934 RABGAP1L chr11 74415506 74415596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHRDL2 chr11 74438342 74438405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHRDL2 chr1 17444047 17473265 Gain and loss Pancreatic cancer SNP array 17952125 PADI2 chr11 74459820 74460784 Gain and loss Pancreatic cancer SNP array 17952125 RNF169 chr1 174466959 174467589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABGAP1L chr11 74467950 74468822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF169 chr11 74477444 74478406 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF169 chr11 74477444 74478406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF169 chr11 74477444 74478406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF169 chr11 74477477 74478406 Gain and loss Pancreatic cancer SNP array 17952125 RNF169 chr1 17448180 17483315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 17448180 17483315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 174484648 174484882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr1 174497701 174497736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr1 174500555 174543675 Duplication Autism quantitative PCR 19404257 RABGAP1L chr1 1745027 1750923 Loss Normal Birdsuite, version 1.5.2 22087296 GNB1 chr11 74504254 74504404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF169 chr1 174508242 174509187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABGAP1L chr11 74523501 74744500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEU3,RNF169,SPCS2,XRRA1 chr1 174536642 174536699 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RABGAP1L chr11 74539809 74594945 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF169,XRRA1 chr11 74539809 74594945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF169,XRRA1 chr11 74539809 74594945 Gain and loss Pancreatic cancer SNP array 17952125 RNF169,XRRA1 chr11 74539809 74594945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF169,XRRA1 chr1 174541431 174541854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABGAP1L chr11 74548492 74595092 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 RNF169,XRRA1 chr11 74553572 74826612 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NEU3,OR2AT4,SPCS2,XRRA1 chr11 74565071 75586760 LOH Normal High-resolution SNP genotyping 21211785 ARRB1,DGAT2,GDPD5,KLHL35,LOC283214,MAP6,MIR326,MOGAT2,NEU3,OR2AT4,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,TPBGL,UVRAG,XRRA1 chr11 74565071 75602903 LOH Normal High-resolution SNP genotyping 21211785 ARRB1,DGAT2,GDPD5,KLHL35,LOC283214,MAP6,MIR326,MOGAT2,NEU3,OR2AT4,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,SPCS2,TPBGL,UVRAG,XRRA1 chr1 174603458 174604160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABGAP1L chr1 17462309 17462409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 174629583 174738799 Gain and loss Pancreatic cancer SNP array 17952125 RABGAP1L chr1 174630830 174630930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr11 7463289 7489178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT9 chr11 7463289 7489178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT9 chr11 7463289 7489180 Gain and loss Pancreatic cancer SNP array 17952125 SYT9 chr11 74640575 74640630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XRRA1 chr11 74648769 74648869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XRRA1 chr11 74653452 74653552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XRRA1 chr11 74654129 74740521 Gain or loss Breast cancer - 20668451 NEU3,SPCS2,XRRA1 chr11 74654129 74740521 Gain or loss Cancer - 20668451 NEU3,SPCS2,XRRA1 chr11 74654129 74740521 Gain or loss Lung cancer - 20668451 NEU3,SPCS2,XRRA1 chr11 74654129 74740521 Gain or loss Ovarian cancer - 20668451 NEU3,SPCS2,XRRA1 chr11 74654129 74740521 Gain or loss Pancreas cancer - 20668451 NEU3,SPCS2,XRRA1 chr11 74654129 74740521 Gain or loss Prostate cancer - 20668451 NEU3,SPCS2,XRRA1 chr11 74654130 74740521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEU3,SPCS2,XRRA1 chr11 74654130 74740521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEU3,SPCS2,XRRA1 chr11 74654130 74740525 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NEU3,SPCS2,XRRA1 chr11 74654242 74692128 Gain and loss Pancreatic cancer SNP array 17952125 SPCS2,XRRA1 chr1 174670810 175700464 LOH Normal High-resolution SNP genotyping 21211785 CACYBP,KIAA0040,MRPS14,RABGAP1L,TNN,TNR chr1 174681981 175568841 LOH Normal High-resolution SNP genotyping 21211785 CACYBP,KIAA0040,MRPS14,RABGAP1L,TNN,TNR chr11 74691003 116275648 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-664K arrays 21546498 AASDHPPT,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,AQP11,ARHGAP20,ARHGAP42,ARRB1,ATM,B3GNT6,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf30,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DGAT2,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GDPD5,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KLHL35,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC283143,LOC283214,LOC643037,LOC643733,LOC643923,LRRC32,MAML2,MAP6,ME3,MED17,MIR1260B,MIR1304,MIR326,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NEU3,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OMP,OR2AT4,OR7E2P,PAK1,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRKRIR,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNU6-83,RPS3,RSF1,SCARNA9,SDHD,SERPINH1,SESN3,SIK2,SLC35F2,SLC36A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TPBGL,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TYR,UBTFL1,USP28,USP35,UVRAG,VSTM5,WNT11,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr1 174698930 175078591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACYBP,MRPS14,RABGAP1L,TNN chr1 174698930 175078591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACYBP,MRPS14,RABGAP1L,TNN chr11 74700000 85300000 Gain Cervical cancer Array CGH 21063398 ACER3,ALG8,ANKRD42,AQP11,ARRB1,B3GNT6,C11orf30,C11orf67,C11orf82,CAPN5,CCDC90B,CLNS1A,DGAT2,DLG2,FAM181B,GAB2,GDPD4,GDPD5,GUCY2EP,INTS4,KCTD14,KCTD21,KLHL35,LOC100506233,LOC283214,LRRC32,MAP6,MIR326,MIR4300,MIR5579,MIR708,MOGAT2,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,NEU3,ODZ4,OMP,OR2AT4,PAK1,PCF11,PRCP,PRKRIR,RAB30,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,THRSP,TPBGL,TSKU,USP35,UVRAG,WNT11 chr11 74723784 74723878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74723784 74723878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 174729201 174729240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr1 174742901 174746800 Deletion Glioma mate-paired sequence 20126413 RABGAP1L chr1 174744841 174745395 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RABGAP1L chr1 174747101 176341000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACYBP,KIAA0040,MRPS14,RABGAP1L,RFWD2,SCARNA3,TNN,TNR chr1 174754323 175181645 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CACYBP,KIAA0040,MRPS14,RABGAP1L,TNN chr11 74775039 74775632 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 74780596 75542735 LOH Normal High-resolution SNP genotyping 21211785 ARRB1,DGAT2,GDPD5,KLHL35,LOC283214,MAP6,MIR326,MOGAT2,OR2AT4,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,TPBGL,UVRAG chr11 74780596 75947696 LOH Normal High-resolution SNP genotyping 21211785 ARRB1,DGAT2,GDPD5,KLHL35,LOC283214,MAP6,MIR326,MOGAT2,OR2AT4,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,TPBGL,UVRAG,WNT11 chr1 17478585 17511526 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74788210 74794378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74788210 74794380 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 74788210 74794380 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74789083 74789230 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74789083 74789230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74793113 74793258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74793113 74793258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 174795287 175175212 Gain and loss Pancreatic cancer SNP array 17952125 CACYBP,KIAA0040,MRPS14,RABGAP1L,TNN chr11 74806001 74980500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARRB1,SLCO2B1,TPBGL chr1 17481001 17757500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PADI1,PADI3,PADI4,PADI6,RCC2 chr11 74811087 74819322 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 74811088 74818884 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 74811088 74818884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74811088 74818884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 74811113 74818755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 74823334 74914515 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLCO2B1 chr11 74823334 74914515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLCO2B1 chr11 74823334 74914515 Gain and loss Pancreatic cancer SNP array 17952125 SLCO2B1 chr11 74823334 74914515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO2B1 chr1 174838364 174838464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr11 74844824 74844924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 74846976 78082068 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACER3,ALG8,AQP11,ARRB1,B3GNT6,C11orf30,C11orf67,CAPN5,CLNS1A,DGAT2,GAB2,GDPD4,GDPD5,GUCY2EP,INTS4,KCTD14,KCTD21,KLHL35,LOC283214,LRRC32,MAP6,MIR326,MOGAT2,MYO7A,NDUFC2,NDUFC2-KCTD14,OMP,PAK1,PRKRIR,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,THRSP,TPBGL,TSKU,USP35,UVRAG,WNT11 chr1 174852027 174852548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABGAP1L chr1 174857252 174879943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RABGAP1L chr1 174889067 174889167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABGAP1L chr1 1748892 1854657 Gain and loss Pancreatic cancer SNP array 17952125 CALML6,GNB1,TMEM52 chr11 74895928 74896022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO2B1 chr11 74900000 130300000 Loss Breast cancer Array CGH 16608533 AASDHPPT,ABCG4,ACAT1,ACER3,ACRV1,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ARRB1,ATM,ATP5L,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CLNS1A,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DGAT2,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GDPD5,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,KLHL35,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283214,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRRC32,MAML2,MAP6,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR326,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MOGAT2,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRKRIR,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPS3,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SERPINH1,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLCO2B1,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD15A,SNORD15B,SNORD5,SNORD6,SORL1,SPA17,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TPBGL,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,UVRAG,VPS11,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 74900000 76700000 Amplification Breast cancer SNP arrays 21482786 ACER3,ARRB1,C11orf30,DGAT2,GDPD5,GUCY2EP,KLHL35,LOC283214,LRRC32,MAP6,MIR326,MOGAT2,PRKRIR,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,TPBGL,TSKU,UVRAG,WNT11 chr11 74900000 76700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACER3,ARRB1,C11orf30,DGAT2,GDPD5,GUCY2EP,KLHL35,LOC283214,LRRC32,MAP6,MIR326,MOGAT2,PRKRIR,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,TPBGL,TSKU,UVRAG,WNT11 chr11 74900000 76700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACER3,ARRB1,C11orf30,DGAT2,GDPD5,GUCY2EP,KLHL35,LOC283214,LRRC32,MAP6,MIR326,MOGAT2,PRKRIR,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,TPBGL,TSKU,UVRAG,WNT11 chr11 74900000 76700000 Gain Multiple myeloma CGH, FISH 16461302 ACER3,ARRB1,C11orf30,DGAT2,GDPD5,GUCY2EP,KLHL35,LOC283214,LRRC32,MAP6,MIR326,MOGAT2,PRKRIR,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,TPBGL,TSKU,UVRAG,WNT11 chr11 74900000 76700000 Gain Ovarian cancer Affymetrix 20844748 ACER3,ARRB1,C11orf30,DGAT2,GDPD5,GUCY2EP,KLHL35,LOC283214,LRRC32,MAP6,MIR326,MOGAT2,PRKRIR,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,TPBGL,TSKU,UVRAG,WNT11 chr11 74900000 76700000 Loss Glioblastoma multiforme aCGH 21080181 ACER3,ARRB1,C11orf30,DGAT2,GDPD5,GUCY2EP,KLHL35,LOC283214,LRRC32,MAP6,MIR326,MOGAT2,PRKRIR,RPS3,SERPINH1,SLCO2B1,SNORD15A,SNORD15B,TPBGL,TSKU,UVRAG,WNT11 chr11 74900000 85300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACER3,ALG8,ANKRD42,AQP11,ARRB1,B3GNT6,C11orf30,C11orf67,C11orf82,CAPN5,CCDC90B,CLNS1A,DGAT2,DLG2,FAM181B,GAB2,GDPD4,GDPD5,GUCY2EP,INTS4,KCTD14,KCTD21,KLHL35,LOC100506233,LOC283214,LRRC32,MAP6,MIR326,MIR4300,MIR5579,MIR708,MOGAT2,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,PCF11,PRCP,PRKRIR,RAB30,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,THRSP,TPBGL,TSKU,USP35,UVRAG,WNT11 chr11 74900000 92300000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACER3,ALG8,ANKRD42,AQP11,ARRB1,B3GNT6,C11orf30,C11orf67,C11orf73,C11orf82,CAPN5,CCDC81,CCDC83,CCDC89,CCDC90B,CHORDC1,CLNS1A,CREBZF,CTSC,DGAT2,DLG2,EED,FAM181B,FAT3,FOLH1B,FZD4,GAB2,GDPD4,GDPD5,GRM5,GRM5-AS1,GUCY2EP,INTS4,KCTD14,KCTD21,KLHL35,LOC100506233,LOC100506368,LOC283214,LRRC32,MAP6,ME3,MIR326,MIR4300,MIR4490,MIR5579,MIR5692A1,MIR708,MOGAT2,MYO7A,NAALAD2,NARS2,NDUFC2,NDUFC2-KCTD14,NOX4,ODZ4,OMP,OR7E2P,PAK1,PCF11,PICALM,PRCP,PRKRIR,PRSS23,RAB30,RAB38,RNU6-83,RPS3,RSF1,SERPINH1,SLCO2B1,SNORA70E,SNORD15A,SNORD15B,SYTL2,THRSP,TMEM126A,TMEM126B,TMEM135,TPBGL,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TSKU,TYR,UBTFL1,USP35,UVRAG,WNT11 chr11 7490279 7534949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OLFML1 chr11 7491627 7631558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLFML1,PPFIBP2 chr11 7491627 7631558 Gain and loss Pancreatic cancer SNP array 17952125 OLFML1,PPFIBP2 chr11 7491627 7631558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLFML1,PPFIBP2 chr11 74930642 74930833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 74950818 74961492 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TPBGL chr11 74950818 74961492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPBGL chr11 74950818 74961492 Gain and loss Pancreatic cancer SNP array 17952125 TPBGL chr11 74950818 74961492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPBGL chr11 74952936 74952989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPBGL chr11 74975612 75057127 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARRB1,MIR326 chr11 74975612 75057127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARRB1,MIR326 chr11 74975612 75057127 Gain and loss Pancreatic cancer SNP array 17952125 ARRB1,MIR326 chr11 74975612 75057127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARRB1,MIR326 chr11 74991552 75057127 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ARRB1,MIR326 chr1 174992046 174992136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS14 chr1 175017291 178538064 Copy number Lung cancer paired-end sequencing 18438408 ASTN1,C1orf220,FAM5B,KIAA0040,LOC730102,MIR488,PAPPA2,RASAL2,RASAL2-AS1,RFWD2,SCARNA3,SEC16B,TEX35,TNN,TNR chr11 75017351 75017441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARRB1 chr1 175047110 175047195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNN chr11 75056001 75058000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARRB1 chr11 75057637 75057717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARRB1 chr11 75065522 75065592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 17507277 17563082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PADI1 chr1 17507277 17563082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PADI1 chr11 75076854 75076954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175093370 175400647 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIAA0040,TNN,TNR chr1 175093370 175400647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0040,TNN,TNR chr1 175093370 175400647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0040,TNN,TNR chr11 75106001 75124500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPS3,SNORD15A,SNORD15B chr11 75106513 75119979 Gain and loss Pancreatic cancer SNP array 17952125 RPS3,SNORD15A,SNORD15B chr11 75106536 75120308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPS3,SNORD15A,SNORD15B chr11 75106536 75120308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS3,SNORD15A,SNORD15B chr11 75106582 75121651 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPS3,SNORD15A,SNORD15B chr1 175112417 175112807 Gain and loss Pancreatic cancer SNP array 17952125 TNN chr11 75130822 75131117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS3 chr11 75130822 75131119 Gain and loss Pancreatic cancer SNP array 17952125 RPS3 chr11 75133596 75133691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL35 chr11 7513380 7513449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLFML1 chr11 75150501 75192000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GDPD5 chr11 75157456 75190225 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GDPD5 chr11 75157456 75190225 Gain and loss Pancreatic cancer SNP array 17952125 GDPD5 chr11 75157456 75190227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDPD5 chr11 75157456 75190227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDPD5 chr1 175163510 175163610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175194691 175197976 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 75197651 75197751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GDPD5 chr11 75199519 75199619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GDPD5 chr11 75203001 75205000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GDPD5 chr11 75203860 75532930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGAT2,GDPD5,LOC283214,MAP6,MOGAT2,SERPINH1,UVRAG chr11 75203860 75532930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGAT2,GDPD5,LOC283214,MAP6,MOGAT2,SERPINH1,UVRAG chr11 75203860 75532930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGAT2,GDPD5,LOC283214,MAP6,MOGAT2,SERPINH1,UVRAG chr11 75203923 75531342 Gain and loss Pancreatic cancer SNP array 17952125 DGAT2,GDPD5,LOC283214,MAP6,MOGAT2,SERPINH1,UVRAG chr11 75208816 75845444 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 DGAT2,GDPD5,LOC283214,MAP6,MOGAT2,SERPINH1,UVRAG chr1 175213867 175232350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 17521545 17521645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75216901 75495200 Copy number Normal ReadDepth: A Parallel R Package 21305028 DGAT2,GDPD5,LOC283214,MAP6,MOGAT2,SERPINH1 chr1 175218020 175245582 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 175218775 175218858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75223908 75224016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDPD5 chr11 75223910 75224015 Gain and loss Pancreatic cancer SNP array 17952125 GDPD5 chr11 75223910 75224016 Gain and loss Pancreatic cancer SNP array 17952125 GDPD5 chr11 75226237 75226338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDPD5 chr11 75226239 75226338 Gain and loss Pancreatic cancer SNP array 17952125 GDPD5 chr11 75226240 75226338 Gain and loss Pancreatic cancer SNP array 17952125 GDPD5 chr11 75233553 75233653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GDPD5 chr11 75235550 76296812 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 C11orf30,DGAT2,GDPD5,LOC283214,MAP6,MOGAT2,PRKRIR,SERPINH1,UVRAG,WNT11 chr11 75241719 75241819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175243588 175249681 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 75251186 75251266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175261705 175261793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 175261709 175261811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 175265122 175265204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 75266478 75266542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75268572 77468762 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ACER3,AQP11,B3GNT6,C11orf30,CAPN5,CLNS1A,DGAT2,GDPD4,GUCY2EP,LOC283214,LRRC32,MAP6,MOGAT2,MYO7A,OMP,PAK1,PRKRIR,RSF1,SERPINH1,TSKU,UVRAG,WNT11 chr1 175281230 175281330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75286504 75286604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 17530000 19090000 Loss Breast cancer aCGH 21509527 ACTL8,ARHGEF10L,IGSF21,KLHDC7A,PADI1,PADI3,PADI4,PADI6,PAX7,RCC2 chr11 75323623 75323731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP6 chr11 75323632 75323712 Gain and loss Pancreatic cancer SNP array 17952125 MAP6 chr11 75323632 75323712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP6 chr1 175333432 175333497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNR chr1 17534339 17564314 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PADI1 chr1 175346500 175346581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNR chr11 75382720 75382820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175389872 175389972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNR chr1 175407154 175518178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNR chr1 175407154 175518178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNR chr11 75408001 75409500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 175422119 175422211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNR chr1 175425957 175797210 Gain and loss Pancreatic cancer SNP array 17952125 TNR chr1 175426222 175427007 Gain and loss Pancreatic cancer SNP array 17952125 TNR chr11 75449001 75450000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 7545257 7545336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIBP2 chr1 175454446 175454564 Gain and loss Pancreatic cancer SNP array 17952125 TNR chr1 17547672 17547772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PADI1 chr1 175477752 175966929 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RFWD2,SCARNA3,TNR chr1 175477752 176306706 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RFWD2,SCARNA3,TNR chr1 17548473 17549976 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PADI1 chr1 17548473 17551517 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PADI1 chr1 17548694 17550394 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 PADI1 chr1 17548760 17550252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PADI1 chr1 175487696 175487830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNR chr11 75495201 75824100 Copy number Normal ReadDepth: A Parallel R Package 21305028 DGAT2,UVRAG chr11 75497166 75497261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGAT2 chr11 75498195 75543425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DGAT2,UVRAG chr11 75509192 75509239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGAT2 chr11 75510545 118031315 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-657K arrays 21546498 AASDHPPT,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APOA1,APOA4,APOA5,APOC3,AQP11,ARHGAP20,ARHGAP42,ATM,B3GNT6,BACE1,BACE1-AS,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf30,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP164,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DGAT2,DIXDC1,DLAT,DLG2,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL10RA,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,LRRC32,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OMP,OR7E2P,PAFAH1B2,PAK1,PANX1,PCF11,PCSK7,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRKRIR,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNU6-83,RSF1,SCARNA9,SCN4B,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TAGLN,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TYR,UBTFL1,USP28,USP35,UVRAG,VSTM5,WNT11,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 7551379 7741499 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CYB5R2,OVCH2,PPFIBP2 chr1 175516223 175516310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNR chr1 17552687 17552731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PADI1 chr11 75528252 75528349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UVRAG chr11 755283 756514 Gain Normal 244K array 17666407 TALDO1 chr11 75537001 75708000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UVRAG chr11 75546346 75573013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UVRAG chr1 175550328 175571872 Gain and loss Pancreatic cancer SNP array 17952125 TNR chr1 175552032 175569291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TNR chr1 175557942 175590558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TNR chr1 17557352 17557673 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PADI1 chr11 75575017 75595222 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 UVRAG chr11 75575017 75599451 Gain or loss Breast cancer - 20668451 UVRAG chr11 75575017 75599451 Gain or loss Cancer - 20668451 UVRAG chr11 75575017 75599451 Gain or loss Lung cancer - 20668451 UVRAG chr11 75575017 75599451 Gain or loss Ovarian cancer - 20668451 UVRAG chr11 75575017 75599451 Gain or loss Pancreas cancer - 20668451 UVRAG chr11 75575017 75599451 Gain or loss Prostate cancer - 20668451 UVRAG chr11 75575018 75595222 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UVRAG chr11 75575018 75595222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UVRAG chr11 75575018 75595222 Gain and loss Pancreatic cancer SNP array 17952125 UVRAG chr11 75575018 75595222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UVRAG chr1 175610281 175610381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNR chr11 7561631 7561706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIBP2 chr11 75618428 76109900 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 PRKRIR,UVRAG,WNT11 chr1 175649633 175649733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNR chr11 75651995 75652095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UVRAG chr1 175696587 175696687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNR chr11 75707126 75707226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UVRAG chr11 75708001 75731000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UVRAG chr1 17571328 17600782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PADI1,PADI3 chr1 17571328 17600782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PADI1,PADI3 chr11 757225 767487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDDC1,TALDO1 chr11 757225 767487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDDC1,TALDO1 chr1 175725152 175725252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175726688 175777354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 175728139 175728239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175728791 175728873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175729837 178552253 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASTN1,C1orf220,FAM5B,LOC730102,MIR488,PAPPA2,RASAL2,RASAL2-AS1,RFWD2,SCARNA3,SEC16B,TEX35 chr11 75738651 75769634 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UVRAG chr11 75738651 75769634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UVRAG chr11 75738651 75769634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UVRAG chr11 75738652 75769528 Gain and loss Pancreatic cancer SNP array 17952125 UVRAG chr11 75740093 75744310 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 UVRAG chr1 175750760 175750845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75751159 75751239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UVRAG chr1 175751269 176768962 LOH Normal High-resolution SNP genotyping 21211785 PAPPA2,RFWD2,SCARNA3 chr1 175751528 175784383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 17575250 17609299 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PADI3 chr1 175760961 175794951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 175769138 175769238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75770017 75796314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UVRAG chr11 75770017 75796314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UVRAG chr11 75770160 75772469 Gain and loss Pancreatic cancer SNP array 17952125 UVRAG chr11 75770829 75771546 Amplification Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 UVRAG chr1 175775999 175825302 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 75779338 76296812 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 C11orf30,PRKRIR,UVRAG,WNT11 chr1 175782880 175798814 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 75792832 75792944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UVRAG chr11 75792834 75792944 Gain and loss Pancreatic cancer SNP array 17952125 UVRAG chr11 75792835 75792944 Gain and loss Pancreatic cancer SNP array 17952125 UVRAG chr1 175804859 175834167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 175809360 175809446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75819976 75826202 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UVRAG chr11 75833001 75834500 Copy number Normal ReadDepth: A Parallel R Package 21305028 UVRAG chr11 75833717 75940234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UVRAG,WNT11 chr11 75833717 75940234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UVRAG,WNT11 chr11 75833717 75940234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UVRAG,WNT11 chr11 75833751 75939035 Gain and loss Pancreatic cancer SNP array 17952125 UVRAG,WNT11 chr11 75835631 75939155 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 UVRAG,WNT11 chr11 75851203 75851268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UVRAG chr11 75869501 75871000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 175875603 175875703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 175875675 175875775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75880001 75883000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 75893184 134452384 Loss Wilms tumour 250K Genotyping Arrays 21544195 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ADAMTS15,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf30,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CLNS1A,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,LRRC32,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRKRIR,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WNT11,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 75901519 75901569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNT11 chr1 175902279 175902419 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 75903415 75903515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNT11 chr11 75920314 75920407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 75922141 76414893 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf30,GUCY2EP,LRRC32,PRKRIR chr11 75952427 114588470 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-700K arrays 21546498 AASDHPPT,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,AQP11,ARHGAP20,ARHGAP42,ATM,B3GNT6,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf30,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC643037,LOC643733,LOC643923,LRRC32,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OMP,OR7E2P,PAK1,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRKRIR,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNU6-83,RSF1,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TYR,UBTFL1,USP28,USP35,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 75965001 76197000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf30,PRKRIR chr11 75975901 76203600 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf30,PRKRIR chr1 175994674 176056109 Gain and loss Pancreatic cancer SNP array 17952125 RFWD2 chr1 176000000 180300000 Gain Mental retardation Array CGH 17847001 ABL2,ACBD6,ANGPTL1,ASTN1,AXDND1,C1orf220,CEP350,FAM163A,FAM20B,FAM5B,FLJ23867,LHX4,LOC100527964,LOC730102,MIR4424,MIR488,NPHS2,PAPPA2,QSOX1,RALGPS2,RASAL2,RASAL2-AS1,RFWD2,SEC16B,SOAT1,TDRD5,TEX35,TOR1AIP1,TOR1AIP2,TOR3A chr11 760001 889000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD151,CEND1,CHID1,EFCAB4A,NS3BP,PDDC1,PIDD,PNPLA2,POLR2L,RPLP2,SLC25A22,SNORA52,TALDO1,TSPAN4 chr11 76016341 122671159 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-675K arrays 21546498 AASDHPPT,ABCG4,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GNT6,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BTG4,BUD13,C11orf1,C11orf30,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CEP164,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FOXR1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,H2AFX,HEPHL1,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,LOC649133,LRRC32,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4693,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NLRX1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR7E2P,PAFAH1B2,PAK1,PANX1,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,POU2AF1,POU2F3,PPP2R1B,PRCP,PRKRIR,PRSS23,PTS,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,RPL23AP64,RPS25,RSF1,SC5DL,SCARNA9,SCN2B,SCN4B,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SORL1,SRSF8,SYTL2,TAF1D,TAGLN,TBCEL,TECTA,TEX12,THRSP,THY1,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 76046217 76059436 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 76046219 76059439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 76046219 76059439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 76046223 76059439 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 176050752 176201904 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 RFWD2 chr1 17605866 17638807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PADI3,PADI4 chr1 17605866 17638807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PADI3,PADI4 chr1 176060365 176076562 Loss Normal 244K array 17666407 RFWD2 chr1 176066512 176255525 Gain and loss Pancreatic cancer SNP array 17952125 RFWD2 chr11 76092155 76092950 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 76092155 76092950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 17611636 17769669 Gain and loss Pancreatic cancer SNP array 17952125 PADI4,PADI6,RCC2 chr1 1 76117153 Loss Chordoma Array CGH 21602918 AADACL3,AADACL4,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DOCK7,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUCA1,GABRD,GADD45A,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RAD54L,RAP1GAP,RAVER2,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,ROR1,RPA2,RPE65,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC35E2,SLC35E2B,SLC44A5,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP1,USP24,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr11 76122973 76123107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 76123511 114256518 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-680K arrays 21546498 AASDHPPT,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,AQP11,ARHGAP20,ARHGAP42,ATM,B3GNT6,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf30,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC643037,LOC643733,LOC643923,LRRC32,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NNMT,NOX4,NPAT,ODZ4,OMP,OR7E2P,PAK1,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RDX,RNU6-83,RSF1,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TYR,UBTFL1,USP28,USP35,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 7612516 7612698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIBP2 chr11 7612683 7612874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIBP2 chr1 176137665 176137742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RFWD2 chr1 176164546 176258345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RFWD2 chr1 176164546 176258345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RFWD2 chr11 76171933 76186845 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C11orf30 chr11 76171933 76186845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf30 chr11 76171933 76186845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf30 chr11 76172020 76186845 Gain and loss Pancreatic cancer SNP array 17952125 C11orf30 chr11 76203601 76456600 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf30,GUCY2EP,LRRC32 chr1 176204719 178467407 LOH Normal High-resolution SNP genotyping 21211785 ASTN1,FAM5B,LOC730102,MIR488,PAPPA2,RASAL2,RASAL2-AS1,SEC16B chr11 76207296 76207436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf30 chr11 762176 762343 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TALDO1 chr11 76230274 114963302 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-716K arrays 21546498 AASDHPPT,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,AQP11,ARHGAP20,ARHGAP42,ATM,B3GNT6,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf30,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,GUCY2EP,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC643037,LOC643733,LOC643923,LRRC32,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OMP,OR7E2P,PAK1,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNU6-83,RSF1,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TSKU,TTC12,TYR,UBTFL1,USP28,USP35,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 76249601 76411592 Gain and loss Pancreatic cancer SNP array 17952125 C11orf30,GUCY2EP,LRRC32 chr11 76249601 76411610 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C11orf30,GUCY2EP,LRRC32 chr11 76249601 76411610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf30,GUCY2EP,LRRC32 chr11 76249601 76411610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf30,GUCY2EP,LRRC32 chr1 176249671 176290266 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 176251333 176276744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 76262385 76262470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C11orf30 chr11 76266924 76267010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 176267305 176273708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 176277060 176277182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 176277061 176277181 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 176285651 176317745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 176292405 176392062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 176301557 176315258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 176310389 176999779 LOH Normal High-resolution SNP genotyping 21211785 ASTN1,MIR488,PAPPA2 chr1 176310779 176310879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 176316132 176438117 Amplification or deletion Cancer Array CGH 17440070 PAPPA2 chr1 176330253 176710178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr1 176330253 176710178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr11 763315 763360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TALDO1 chr11 76347688 79590923 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ACER3,ALG8,AQP11,B3GNT6,C11orf67,CAPN5,CLNS1A,GAB2,GDPD4,GUCY2EP,INTS4,KCTD14,KCTD21,LRRC32,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,RNU6-83,RSF1,THRSP,TSKU,USP35 chr11 76347764 76380393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC32 chr1 176350541 176350641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 76376835 76776618 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACER3,B3GNT6,GUCY2EP,LRRC32,TSKU chr11 76394970 76395070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GUCY2EP chr11 76418150 76450224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCY2EP chr11 76419501 76452500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GUCY2EP chr11 76423083 76430651 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GUCY2EP chr11 76423083 76430651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY2EP chr11 76423083 76430651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2EP chr11 76423108 76430651 Gain and loss Pancreatic cancer SNP array 17952125 GUCY2EP chr11 7642902 7651397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP2 chr11 7642902 7651397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP2 chr11 7642909 7651397 Gain and loss Pancreatic cancer SNP array 17952125 PPFIBP2 chr1 176443955 176516983 Gain and loss Pancreatic cancer SNP array 17952125 PAPPA2 chr1 176443955 176516990 Amplification T-cell lymphomas Array-CGH 22341440 PAPPA2 chr11 764447 1051564 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2A2,CD151,CEND1,CHID1,EFCAB4A,MUC6,NS3BP,PDDC1,PIDD,PNPLA2,POLR2L,RPLP2,SLC25A22,SNORA52,TALDO1,TSPAN4 chr11 76452501 76464500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 176454495 176455979 Loss Normal 244K array 17666407 PAPPA2 chr11 76455640 76514844 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSKU chr11 76455640 76514844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSKU chr11 76455640 76514844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSKU chr11 76455659 76514844 Gain and loss Pancreatic cancer SNP array 17952125 TSKU chr11 76456601 76608400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACER3,TSKU chr11 76457052 76457171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 76469001 76497000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSKU chr1 17647560 17647660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PADI4 chr11 76491534 76492025 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 176491841 176491916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAPPA2 chr11 76497001 76505000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSKU chr11 76505001 76522000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSKU chr11 76516957 76603934 Deletion Usher type I cohort multiplex ligation-dependent probe amplification(MLPA) has been designed by MRC-Holland 21436283 ACER3 chr11 76516957 76603934 Deletion Usher type I cohort quantitative multiplex PCR of short fluorescent fragments (QMPSF)and semiquantitative nonfluorescent multiplex PCR 21436283 ACER3 chr11 76516958 76603932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACER3 chr11 76516958 76603932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACER3 chr11 76525501 76573500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACER3 chr11 76531241 76603931 Gain and loss Pancreatic cancer SNP array 17952125 ACER3 chr11 76531241 76603932 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACER3 chr1 176545610 176578591 Amplification T-cell lymphomas Array-CGH 22341440 PAPPA2 chr1 176545611 176578591 Gain and loss Pancreatic cancer SNP array 17952125 PAPPA2 chr11 76560542 78074812 LOH Normal High-resolution SNP genotyping 21211785 ACER3,ALG8,AQP11,B3GNT6,C11orf67,CAPN5,CLNS1A,GAB2,GDPD4,INTS4,KCTD14,KCTD21,MYO7A,NDUFC2,NDUFC2-KCTD14,OMP,PAK1,RNU6-83,RSF1,THRSP,USP35 chr1 176565573 176565968 Amplification T-cell lymphomas Array-CGH 22341440 PAPPA2 chr11 76576001 76606000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACER3 chr1 176582834 176620868 Gain and loss Pancreatic cancer SNP array 17952125 PAPPA2 chr1 176583071 176583262 Gain and loss Pancreatic cancer SNP array 17952125 PAPPA2 chr1 176583077 176620868 Amplification T-cell lymphomas Array-CGH 22341440 PAPPA2 chr11 76586638 78158300 Gain Breast cancer 244K CGH oligonucleotide microarrays 20932292 ACER3,ALG8,AQP11,B3GNT6,C11orf67,CAPN5,CLNS1A,GAB2,GDPD4,INTS4,KCTD14,KCTD21,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,OMP,PAK1,RNU6-83,RSF1,THRSP,USP35 chr1 176601054 176601356 Gain and loss Pancreatic cancer SNP array 17952125 PAPPA2 chr11 76605253 76676111 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACER3 chr11 76605253 76676111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACER3 chr11 76605253 76676111 Gain and loss Pancreatic cancer SNP array 17952125 ACER3 chr11 76605253 76676111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACER3 chr11 76608401 77544500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACER3,AQP11,B3GNT6,C11orf67,CAPN5,CLNS1A,GDPD4,MYO7A,OMP,PAK1,RSF1 chr1 176612332 176642952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAPPA2 chr11 76618851 79880588 Copy number Lung cancer paired-end sequencing 18438408 ACER3,ALG8,AQP11,B3GNT6,C11orf67,CAPN5,CLNS1A,GAB2,GDPD4,INTS4,KCTD14,KCTD21,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,RNU6-83,RSF1,THRSP,USP35 chr11 76623089 76623189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACER3 chr11 76646423 80321749 Gain Wilms tumour 250K Genotyping Arrays 21544195 ACER3,ALG8,AQP11,B3GNT6,C11orf67,CAPN5,CLNS1A,GAB2,GDPD4,INTS4,KCTD14,KCTD21,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,RNU6-83,RSF1,THRSP,USP35 chr1 176647392 176647773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr1 176655588 176655620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAPPA2 chr1 176655781 176814172 Amplification T-cell lymphomas Array-CGH 22341440 PAPPA2 chr1 176655781 176814172 Gain and loss Pancreatic cancer SNP array 17952125 PAPPA2 chr11 76655853 116202806 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-695K arrays 21546498 AASDHPPT,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,AQP11,ARHGAP20,ARHGAP42,ATM,B3GNT6,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OMP,OR7E2P,PAK1,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNU6-83,RSF1,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,USP35,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 76684275 119809549 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-704K arrays 21546498 AASDHPPT,ABCG4,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP42,ATM,ATP5L,B3GNT6,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CEP164,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FOXR1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPHL1,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,MCAM,ME3,MED17,MFRP,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4693,MIR5579,MIR5692A1,MIR708,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NLRX1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OMP,OR7E2P,PAFAH1B2,PAK1,PANX1,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,RPL23AP64,RPS25,RSF1,SCARNA9,SCN2B,SCN4B,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TAGLN,TEX12,THRSP,THY1,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 7669020 7684517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP2 chr11 7669020 7684517 Gain and loss Pancreatic cancer SNP array 17952125 PPFIBP2 chr11 7669020 7684517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP2 chr11 76699529 78005085 Amplification Cancer Affymetrix 250K Sty array 20164920 ACER3,ALG8,AQP11,B3GNT6,C11orf67,CAPN5,CLNS1A,GAB2,GDPD4,INTS4,KCTD14,KCTD21,MYO7A,NDUFC2,NDUFC2-KCTD14,OMP,PAK1,RNU6-83,RSF1,THRSP,USP35 chr11 76700000 101600000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ACER3,ALG8,AMOTL1,ANKRD42,ANKRD49,AQP11,ARHGAP42,B3GNT6,C11orf54,C11orf67,C11orf73,C11orf75,C11orf82,CAPN5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLNS1A,CNTN5,CREBZF,CTSC,CWC15,DLG2,EED,ENDOD1,FAM181B,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GPR83,GRM5,GRM5-AS1,HEPHL1,INTS4,JRKL,JRKL-AS1,KCTD14,KCTD21,KDM4D,KDM4E,KIAA1731,LOC100506233,LOC100506368,LOC101054525,LOC643037,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR3920,MIR4300,MIR4490,MIR5579,MIR5692A1,MIR708,MRE11A,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NDUFC2,NDUFC2-KCTD14,NOX4,ODZ4,OMP,OR7E2P,PAK1,PANX1,PCF11,PGR,PICALM,PIWIL4,PRCP,PRSS23,RAB30,RAB38,RNU6-83,RSF1,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,THRSP,TMEM126A,TMEM126B,TMEM133,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TYR,UBTFL1,USP35,VSTM5 chr11 76700000 120700000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 AASDHPPT,ABCG4,ACAT1,ACER3,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GNT6,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CEP164,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FOXR1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPHL1,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4693,MIR5579,MIR5692A1,MIR708,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NLRX1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR7E2P,PAFAH1B2,PAK1,PANX1,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,POU2AF1,POU2F3,PPP2R1B,PRCP,PRSS23,PTS,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,RPL23AP64,RPS25,RSF1,SCARNA9,SCN2B,SCN4B,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TAGLN,TEX12,THRSP,THY1,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 76700000 130300000 Loss Glioblastoma multiforme conventional CGH 21080181 AASDHPPT,ABCG4,ACAT1,ACER3,ACRV1,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CLNS1A,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SORL1,SPA17,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 76700000 134452384 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ADAMTS15,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CLNS1A,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 76700000 134452384 Gain T-cell lymphomas 250k GeneChip SNP array 19863542 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ADAMTS15,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CLNS1A,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 76700000 134452384 Loss Acute lymphoblastic leukemia array CGH 17690704 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ADAMTS15,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CLNS1A,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 76700000 134452384 Loss Glioblastoma multiforme conventional CGH 21080181 AASDHPPT,ABCG4,ACAD8,ACAT1,ACER3,ACRV1,ADAMTS15,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,B3GNT6,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CLNS1A,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GDPD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OMP,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 76700000 85300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACER3,ALG8,ANKRD42,AQP11,B3GNT6,C11orf67,C11orf82,CAPN5,CCDC90B,CLNS1A,DLG2,FAM181B,GAB2,GDPD4,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,THRSP,USP35 chr11 76700000 85300000 Copy number Normal - 21701786 ACER3,ALG8,ANKRD42,AQP11,B3GNT6,C11orf67,C11orf82,CAPN5,CCDC90B,CLNS1A,DLG2,FAM181B,GAB2,GDPD4,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,THRSP,USP35 chr11 76700000 85300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACER3,ALG8,ANKRD42,AQP11,B3GNT6,C11orf67,C11orf82,CAPN5,CCDC90B,CLNS1A,DLG2,FAM181B,GAB2,GDPD4,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,THRSP,USP35 chr11 76700000 85300000 Gain Ovarian cancer Affymetrix 20844748 ACER3,ALG8,ANKRD42,AQP11,B3GNT6,C11orf67,C11orf82,CAPN5,CCDC90B,CLNS1A,DLG2,FAM181B,GAB2,GDPD4,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,THRSP,USP35 chr11 76700000 85300000 Loss Malignant fibrous histiocytomas aCGH 21085701 ACER3,ALG8,ANKRD42,AQP11,B3GNT6,C11orf67,C11orf82,CAPN5,CCDC90B,CLNS1A,DLG2,FAM181B,GAB2,GDPD4,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,THRSP,USP35 chr11 76700000 87900000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACER3,ALG8,ANKRD42,AQP11,B3GNT6,C11orf67,C11orf73,C11orf82,CAPN5,CCDC81,CCDC83,CCDC89,CCDC90B,CLNS1A,CREBZF,DLG2,EED,FAM181B,FZD4,GAB2,GDPD4,INTS4,KCTD14,KCTD21,LOC100506233,LOC100506368,ME3,MIR4300,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,OR7E2P,PAK1,PCF11,PICALM,PRCP,PRSS23,RAB30,RAB38,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,TMEM135,USP35 chr11 76700000 87900000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ACER3,ALG8,ANKRD42,AQP11,B3GNT6,C11orf67,C11orf73,C11orf82,CAPN5,CCDC81,CCDC83,CCDC89,CCDC90B,CLNS1A,CREBZF,DLG2,EED,FAM181B,FZD4,GAB2,GDPD4,INTS4,KCTD14,KCTD21,LOC100506233,LOC100506368,ME3,MIR4300,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,OR7E2P,PAK1,PCF11,PICALM,PRCP,PRSS23,RAB30,RAB38,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,TMEM135,USP35 chr11 76700000 92300000 Gain Multiple myeloma CGH, FISH 16461302 ACER3,ALG8,ANKRD42,AQP11,B3GNT6,C11orf67,C11orf73,C11orf82,CAPN5,CCDC81,CCDC83,CCDC89,CCDC90B,CHORDC1,CLNS1A,CREBZF,CTSC,DLG2,EED,FAM181B,FAT3,FOLH1B,FZD4,GAB2,GDPD4,GRM5,GRM5-AS1,INTS4,KCTD14,KCTD21,LOC100506233,LOC100506368,ME3,MIR4300,MIR4490,MIR5579,MIR5692A1,MIR708,MYO7A,NAALAD2,NARS2,NDUFC2,NDUFC2-KCTD14,NOX4,ODZ4,OMP,OR7E2P,PAK1,PCF11,PICALM,PRCP,PRSS23,RAB30,RAB38,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,USP35 chr11 76700000 96700000 Gain Glioblastoma multiforme conventional CGH 21080181 ACER3,ALG8,AMOTL1,ANKRD42,ANKRD49,AQP11,B3GNT6,C11orf54,C11orf67,C11orf73,C11orf75,C11orf82,CAPN5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLNS1A,CREBZF,CTSC,CWC15,DLG2,EED,ENDOD1,FAM181B,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GPR83,GRM5,GRM5-AS1,HEPHL1,INTS4,JRKL,JRKL-AS1,KCTD14,KCTD21,KDM4D,KDM4E,KIAA1731,LOC100506233,LOC100506368,LOC643037,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR4300,MIR4490,MIR5579,MIR5692A1,MIR708,MRE11A,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NDUFC2,NDUFC2-KCTD14,NOX4,ODZ4,OMP,OR7E2P,PAK1,PANX1,PCF11,PICALM,PIWIL4,PRCP,PRSS23,RAB30,RAB38,RNU6-83,RSF1,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,THRSP,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,USP35,VSTM5 chr1 176708253 177307399 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-262K arrays 21546498 ASTN1,FAM5B,MIR488,PAPPA2 chr11 76710709 76862581 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACER3,B3GNT6,CAPN5,MYO7A,OMP chr11 76710709 76862581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACER3,B3GNT6,CAPN5,MYO7A,OMP chr11 76710709 76862581 Gain and loss Pancreatic cancer SNP array 17952125 ACER3,B3GNT6,CAPN5,MYO7A,OMP chr11 76710709 76862581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACER3,B3GNT6,CAPN5,MYO7A,OMP chr11 76721458 76781171 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ACER3,B3GNT6,CAPN5 chr1 176729657 176732768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr1 176729657 176732768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr1 176730517 176775211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAPPA2 chr11 7673480 7673795 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPFIBP2 chr1 176748833 176767316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr1 176748833 176767316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr1 176761909 176762261 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 PAPPA2 chr1 176778510 176784647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr1 176778554 176784647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr1 176778554 176784647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr11 76781009 79702160 Duplication Acute myeloid leukemia - 21251322 ALG8,AQP11,C11orf67,CAPN5,CLNS1A,GAB2,GDPD4,INTS4,KCTD14,KCTD21,MIR5579,MIR708,MYO7A,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,OMP,PAK1,RNU6-83,RSF1,THRSP,USP35 chr1 176787128 176787193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAPPA2 chr11 76787801 116028378 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-699K arrays 21546498 AASDHPPT,ACAT1,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,AQP11,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CAPN5,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OMP,OR7E2P,PAK1,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNU6-83,RSF1,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,USP35,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr1 176796671 176796787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPPA2 chr11 76840271 76840591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO7A chr1 176855625 176898824 Amplification T-cell lymphomas Array-CGH 22341440 ASTN1 chr1 176855625 176898824 Gain and loss Pancreatic cancer SNP array 17952125 ASTN1 chr11 76857475 76857589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO7A chr11 76862064 76865722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MYO7A chr11 76862064 76865722 Gain and loss Pancreatic cancer SNP array 17952125 MYO7A chr1 17686972 17707975 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PADI4,PADI6 chr11 7687390 44614067 Loss Prostate cancer Array CGH 18632612 ABCC8,ABTB2,ACCS,ACCSL,ADM,AKIP1,ALKBH3,ALX4,AMPD3,ANO3,ANO5,API5,APIP,ARL14EP,ARNTL,ASCL3,BBOX1,BDNF,BDNF-AS,BTBD10,C11orf16,C11orf58,C11orf74,C11orf91,C11orf96,CALCA,CALCB,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CD82,COMMD9,COPB1,CSNK2A1P,CSRP3,CSTF3,CTR9,CYB5R2,CYP2R1,DBX1,DCDC1,DCDC5,DENND5A,DEPDC7,DKFZp686K1684,DKK3,DNAJC24,E2F8,EHF,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EXT2,FANCF,FAR1,FBXO3,FIBIN,FJX1,FSHB,GALNTL4,GAS2,GTF2H1,HIPK3,HNRNPKP3,HPS5,HSD17B12,HTATIP2,IGSF22,IMMP1L,INSC,IPO7,KCNA4,KCNC1,KCNJ11,KIAA1549L,KIF18A,KRT8P41,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO1,LMO2,LOC100126784,LOC100500938,LOC100506305,LOC100507205,LOC100507300,LOC283299,LOC338739,LOC440028,LOC494141,LOC644656,LOC729013,LRRC4C,LUZP2,LYVE1,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR3973,MIR4299,MIR4485,MIR4486,MIR4694,MIR5691,MIR610,MIR670,MPPED2,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRVI1,MRVI1-AS1,MTRNR2L8,MUC15,MYOD1,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NLRP10,NRIP3,NUCB2,OR10A3,OR10A6,OR5E1P,OR5P2,OR5P3,OR7E14P,OVCH2,PAMR1,PARVA,PAX6,PDE3B,PDHX,PIK3C2A,PLEKHA7,PRMT3,PRR5L,PRRG4,PSMA1,PTH,PTPN5,QSER1,RAG1,RAG2,RASSF10,RCN1,RIC3,RNF141,RPL27A,RPS13,RRAS2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SCUBE2,SEC14L1P1,SERGEF,SLC17A6,SLC1A2,SLC5A12,SLC6A5,SNORA23,SNORA3,SNORA45,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,ST5,STK33,SVIP,SWAP70,TCP11L1,TEAD1,TMEM41B,TMEM86A,TMEM9B,TPH1,TRAF6,TRIM44,TRIM66,TSG101,TTC17,TUB,UEVLD,USH1C,USP47,WEE1,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF143 chr1 176884532 176884629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASTN1 chr1 176889707 176889807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASTN1 chr11 76893938 78072846 LOH Normal High-resolution SNP genotyping 21211785 ALG8,AQP11,C11orf67,CLNS1A,GAB2,GDPD4,INTS4,KCTD14,KCTD21,MYO7A,NDUFC2,NDUFC2-KCTD14,PAK1,RNU6-83,RSF1,THRSP,USP35 chr11 76893938 78074812 LOH Normal High-resolution SNP genotyping 21211785 ALG8,AQP11,C11orf67,CLNS1A,GAB2,GDPD4,INTS4,KCTD14,KCTD21,MYO7A,NDUFC2,NDUFC2-KCTD14,PAK1,RNU6-83,RSF1,THRSP,USP35 chr11 76903808 116560250 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-692K arrays 21546498 AASDHPPT,ACAT1,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,AQP11,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GDPD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,MYO7A,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OR7E2P,PAK1,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNU6-83,RSF1,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,USP35,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr1 176931099 176975845 Amplification T-cell lymphomas Array-CGH 22341440 ASTN1 chr1 176931099 176975845 Gain and loss Pancreatic cancer SNP array 17952125 ASTN1 chr11 76931992 76933703 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GDPD4 chr1 176939971 178209318 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASTN1,FAM5B,LOC730102,MIR488,RASAL2,RASAL2-AS1,SEC16B chr11 76940850 76940945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GDPD4 chr1 176944276 177610206 LOH Normal High-resolution SNP genotyping 21211785 ASTN1,FAM5B,MIR488 chr1 176948506 176948596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASTN1 chr1 176955503 176955603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASTN1 chr11 76955626 76955688 Gain and loss Pancreatic cancer SNP array 17952125 GDPD4 chr11 76960177 76963085 Gain and loss Pancreatic cancer SNP array 17952125 GDPD4 chr1 176960922 177152465 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ASTN1,FAM5B,MIR488 chr1 176960923 177153766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASTN1,FAM5B,MIR488 chr1 176960923 177153766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASTN1,FAM5B,MIR488 chr11 76978327 76998341 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GDPD4 chr11 76978328 76998339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GDPD4 chr11 76978328 76998339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDPD4 chr11 76978328 76998339 Gain and loss Pancreatic cancer SNP array 17952125 GDPD4 chr11 76978328 76998339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDPD4 chr1 176982441 176983512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASTN1 chr1 176982441 176983512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASTN1 chr1 176989023 177203136 Gain and loss Pancreatic cancer SNP array 17952125 ASTN1,FAM5B,MIR488 chr1 176989412 176989530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASTN1 chr11 76990354 76990584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GDPD4 chr11 76990572 76990782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GDPD4 chr11 76990578 76990678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GDPD4 chr11 77004847 77026495 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 77004847 77026495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77004847 77026495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 77004847 77026495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77004989 77026476 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr11 77006520 118524333 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-668K arrays 21546498 AASDHPPT,ACAT1,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP42,ATM,ATP5L,BACE1,BACE1-AS,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CEP164,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IFT46,IL10RA,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OR7E2P,PAFAH1B2,PAK1,PANX1,PCF11,PCSK7,PDGFD,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNU6-83,RSF1,SCARNA9,SCN2B,SCN4B,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TAGLN,TEX12,THRSP,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBE4A,UBTFL1,USP28,USP35,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 770117 770755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDDC1 chr11 77019036 77608921 Amplification Breast cancer FISH 17142309 AQP11,C11orf67,CLNS1A,INTS4,PAK1,RSF1 chr11 77022407 77022499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 77054923 77209528 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAK1 chr11 77054923 77209528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAK1 chr11 77054923 77209528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAK1 chr11 77054929 77209528 Gain and loss Pancreatic cancer SNP array 17952125 PAK1 chr11 77055016 77056050 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 PAK1 chr11 7706208 7707511 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 7706208 7707511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177067543 177578475 LOH Normal High-resolution SNP genotyping 21211785 ASTN1,FAM5B chr11 77080343 77080442 Gain and loss Pancreatic cancer SNP array 17952125 PAK1 chr11 77080343 77080444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAK1 chr11 77080915 77081236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAK1 chr1 177085294 177106838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASTN1 chr1 177085294 177106838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASTN1 chr11 77100000 121200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AASDHPPT,ABCG4,ACAT1,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CEP164,CEP57,CHORDC1,CLDN25,CLNS1A,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FOXR1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GPR83,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPHL1,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,INTS4,JRKL,JRKL-AS1,KBTBD3,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4693,MIR5579,MIR5692A1,MIR708,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NARS2,NCAM1,NDUFC2,NDUFC2-KCTD14,NLRX1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OR7E2P,PAFAH1B2,PAK1,PANX1,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,POU2AF1,POU2F3,PPP2R1B,PRCP,PRSS23,PTS,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,RPL23AP64,RPS25,RSF1,SC5DL,SCARNA9,SCN2B,SCN4B,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TAGLN,TBCEL,TECTA,TEX12,THRSP,THY1,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 77100000 135006516 Amplification Hepatocellular carcinoma FISH 16785998 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,AQP11,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf67,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CLNS1A,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GAB2,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,INTS4,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KCTD14,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NARS2,NCAM1,NCAPD3,NDUFC2,NDUFC2-KCTD14,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PAK1,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RNU6-83,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,RSF1,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THRSP,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,USP35,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 77100000 85600000 Deletion Colorectal cancer PCR 16912164 ALG8,ANKRD42,AQP11,C11orf67,C11orf82,CCDC83,CCDC89,CCDC90B,CLNS1A,CREBZF,DLG2,FAM181B,GAB2,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,USP35 chr11 77100000 85600000 Gain and amplification Multiple myeloma Array CGH 16616336 ALG8,ANKRD42,AQP11,C11orf67,C11orf82,CCDC83,CCDC89,CCDC90B,CLNS1A,CREBZF,DLG2,FAM181B,GAB2,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,USP35 chr11 77100000 85600000 Gain Melanoma Array CGH 19509136 ALG8,ANKRD42,AQP11,C11orf67,C11orf82,CCDC83,CCDC89,CCDC90B,CLNS1A,CREBZF,DLG2,FAM181B,GAB2,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,USP35 chr11 77100000 85600000 Gain Mental retardation Array CGH 17847001 ALG8,ANKRD42,AQP11,C11orf67,C11orf82,CCDC83,CCDC89,CCDC90B,CLNS1A,CREBZF,DLG2,FAM181B,GAB2,INTS4,KCTD14,KCTD21,LOC100506233,MIR4300,MIR5579,MIR708,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,PAK1,PCF11,PRCP,RAB30,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,USP35 chr11 77100000 92800000 Deletion Sudden cardiac death CGH 19188705 ALG8,ANKRD42,AQP11,C11orf67,C11orf73,C11orf82,CCDC81,CCDC83,CCDC89,CCDC90B,CHORDC1,CLNS1A,CREBZF,CTSC,DLG2,EED,FAM181B,FAT3,FOLH1B,FZD4,GAB2,GRM5,GRM5-AS1,INTS4,KCTD14,KCTD21,LOC100506233,LOC100506368,ME3,MIR4300,MIR4490,MIR5579,MIR5692A1,MIR708,MTNR1B,NAALAD2,NARS2,NDUFC2,NDUFC2-KCTD14,NOX4,ODZ4,OR7E2P,PAK1,PCF11,PICALM,PRCP,PRSS23,RAB30,RAB38,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,USP35 chr11 77100000 92800000 Gain Prostate cancer Array CGH 16573809 ALG8,ANKRD42,AQP11,C11orf67,C11orf73,C11orf82,CCDC81,CCDC83,CCDC89,CCDC90B,CHORDC1,CLNS1A,CREBZF,CTSC,DLG2,EED,FAM181B,FAT3,FOLH1B,FZD4,GAB2,GRM5,GRM5-AS1,INTS4,KCTD14,KCTD21,LOC100506233,LOC100506368,ME3,MIR4300,MIR4490,MIR5579,MIR5692A1,MIR708,MTNR1B,NAALAD2,NARS2,NDUFC2,NDUFC2-KCTD14,NOX4,ODZ4,OR7E2P,PAK1,PCF11,PICALM,PRCP,PRSS23,RAB30,RAB38,RNU6-83,RSF1,SNORA70E,SYTL2,THRSP,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,USP35 chr11 7711500 7711600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OVCH2 chr1 177115613 177141917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASTN1,FAM5B chr11 77123168 77123719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAK1 chr1 177136574 177136735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 177141750 177141850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM5B chr1 177150602 177150673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM5B chr1 177175901 179124000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABL2,ANGPTL1,C1orf220,FAM20B,FAM5B,LOC730102,MIR4424,RALGPS2,RASAL2,RASAL2-AS1,SEC16B,TEX35,TOR3A chr11 77176648 77208876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAK1 chr11 77182335 77182576 Gain and loss Pancreatic cancer SNP array 17952125 PAK1 chr11 77182335 77182646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAK1 chr11 77182335 77182649 Gain and loss Pancreatic cancer SNP array 17952125 PAK1 chr1 177193172 177193267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM5B chr11 77197208 77197526 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 77202048 77209323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77209849 77265745 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 77209849 77265745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77209849 77265745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77209849 77271429 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 77209888 77261043 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr1 177219811 177219912 Gain and loss Pancreatic cancer SNP array 17952125 FAM5B chr1 177220369 177243352 Gain or loss Normal Birdsuite, version 1.5.2 22087296 FAM5B chr1 177236720 177236820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM5B chr1 177237843 177237893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM5B chr1 177243352 177245796 Loss Normal Birdsuite, version 1.5.2 22087296 FAM5B chr1 177261654 177312320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177261654 177312320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77267416 77383365 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AQP11,CLNS1A,RSF1 chr11 77267416 77383365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AQP11,CLNS1A,RSF1 chr11 77267416 77383365 Gain and loss Pancreatic cancer SNP array 17952125 AQP11,CLNS1A,RSF1 chr11 77267416 77383365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AQP11,CLNS1A,RSF1 chr11 77270540 77431584 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 AQP11,CLNS1A,RSF1 chr1 177271066 177271410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77275000 77296028 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr11 77275118 77275449 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 77275118 77275449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77298000 77349472 Duplication Non-syndromic sensorineural hearing loss References 19212409 AQP11,CLNS1A chr11 77306760 77306854 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 AQP11 chr1 177311206 177311291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 177317734 177331752 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 177317735 177333653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177317735 177333653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177319674 177319674 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 77319839 77874401 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ALG8,AQP11,C11orf67,CLNS1A,INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,RSF1,THRSP chr11 77331715 77364774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLNS1A chr1 177332797 177587140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 177335084 177465390 Copy number Lung cancer - 20668451 NOT_FOUND chr1 177335084 177465390 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 177335084 177465390 Gain or loss Cancer - 20668451 NOT_FOUND chr1 177335084 177465390 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 177335084 177465390 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 177335084 177465390 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 177335084 177465390 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 177335085 177465155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177335085 177465155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177344731 177346824 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr11 77368622 78420926 LOH Normal High-resolution SNP genotyping 21211785 ALG8,C11orf67,GAB2,INTS4,KCTD14,KCTD21,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,RNU6-83,RSF1,THRSP,USP35 chr1 177373522 177373692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 17738917 17896956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF10L,RCC2 chr1 17738917 17896956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF10L,RCC2 chr1 177391172 177391236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 177396474 177396574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 77404409 77411988 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RSF1 chr11 77404409 77411988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSF1 chr11 77404409 77411988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSF1 chr11 77404410 77411934 Gain and loss Pancreatic cancer SNP array 17952125 RSF1 chr11 7740855 7898183 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC283299,OR5E1P,OR5P2,OR5P3 chr1 177419492 177420305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7742179 7795493 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 177432231 177432367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177437245 177437385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177437463 177437684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77447533 77825022 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG8,C11orf67,INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,RSF1,THRSP chr11 77447533 78539940 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG8,C11orf67,GAB2,INTS4,KCTD14,KCTD21,NARS2,NDUFC2,NDUFC2-KCTD14,ODZ4,RNU6-83,RSF1,THRSP,USP35 chr11 77452555 77457044 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RSF1 chr11 77452555 77457044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSF1 chr11 77452555 77457044 Gain and loss Pancreatic cancer SNP array 17952125 RSF1 chr11 77452555 77457044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSF1 chr1 177456696 177457883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77457051 77468579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RSF1 chr11 77457051 77468579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSF1 chr11 77457051 77468579 Gain and loss Pancreatic cancer SNP array 17952125 RSF1 chr11 77457051 77468579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSF1 chr11 77457655 77468762 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 RSF1 chr1 177459515 177459610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 177472870 177511970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 177478457 177497368 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 77489636 77528347 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RSF1 chr11 77489636 77528347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSF1 chr11 77489636 77528347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSF1 chr11 77489641 77528347 Gain and loss Pancreatic cancer SNP array 17952125 RSF1 chr11 77489671 77528282 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 RSF1 chr1 177491491 177491839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77500628 77500679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSF1 chr1 17750508 17750577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCC2 chr1 177506874 177507024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77509837 77679169 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 C11orf67,INTS4,RSF1 chr11 7751013 7751771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 7751013 7751771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177515864 177515960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 177518683 177518783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 177520078 177540898 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 77521141 77521241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSF1 chr11 7752847 77489636 Copy number Autism exome sequencing 22495311 ABCC8,ABTB2,ACCS,ACCSL,ACER3,ACP2,ACTN3,ACY3,ADM,ADRBK1,AGBL2,AHNAK,AIP,AKIP1,ALDH3B1,ALDH3B2,ALKBH3,ALX4,AMBRA1,AMPD3,ANAPC15,ANKRD13D,ANO1,ANO3,ANO5,AP5B1,API5,APIP,APLNR,AQP11,ARAP1,ARFGAP2,ARHGAP1,ARHGEF17,ARL14EP,ARL2,ARL2-SNX15,ARNTL,ARRB1,ASCL3,ASRGL1,ATG13,ATG16L2,ATG2A,ATL3,B3GAT3,B3GNT1,B3GNT6,BAD,BANF1,BATF2,BBOX1,BBS1,BDNF,BDNF-AS,BEST1,BRMS1,BSCL2,BTBD10,BTBD18,C11orf10,C11orf16,C11orf20,C11orf24,C11orf30,C11orf31,C11orf48,C11orf49,C11orf58,C11orf68,C11orf74,C11orf80,C11orf83,C11orf84,C11orf85,C11orf86,C11orf9,C11orf91,C11orf94,C11orf95,C11orf96,C1QTNF4,C2CD3,CABP2,CABP4,CALCA,CALCB,CAPN1,CAPN5,CAPRIN1,CARNS1,CAT,CATSPER1,CCDC34,CCDC73,CCDC85B,CCDC86,CCDC87,CCDC88B,CCND1,CCS,CD248,CD44,CD5,CD59,CD6,CD82,CDC42BPG,CDC42EP2,CDCA5,CDK2AP2,CELF1,CFL1,CHCHD8,CHKA,CHRDL2,CHRM1,CHRM4,CHST1,CKAP5,CLCF1,CLNS1A,CLP1,CLPB,CNIH2,CNTF,COMMD9,COPB1,CORO1B,COX8A,CPSF7,CPT1A,CREB3L1,CRY2,CSNK2A1P,CSRP3,CST6,CSTF3,CTNND1,CTR9,CTSF,CTSW,CTTN,CYBASC3,CYP2R1,DAGLA,DAK,DBX1,DCDC1,DCDC5,DDB1,DDB2,DEFB108B,DENND5A,DEPDC7,DGAT2,DGKZ,DHCR7,DKFZP434K028,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJB13,DNAJC24,DNAJC4,DOC2GP,DPF2,DPP3,DRAP1,DTX4,E2F8,EEF1G,EFEMP2,EHBP1L1,EHD1,EHF,EIF1AD,EIF3F,EIF3M,EIF4G2,ELF5,ELP4,EML3,ESRRA,EXT2,F2,FADD,FADS1,FADS2,FADS3,FAM111A,FAM111B,FAM168A,FAM180B,FAM86C1,FAM86C2P,FAM89B,FANCF,FAR1,FAU,FBXO3,FCHSD2,FEN1,FERMT3,FGF19,FGF3,FGF4,FIBIN,FIBP,FJX1,FKBP2,FLJ42102,FLRT1,FNBP4,FOLH1,FOLR1,FOLR2,FOLR3,FOSL1,FRMD8,FSHB,FTH1,GAL,GAL3ST3,GALNTL4,GANAB,GAS2,GDPD4,GDPD5,GIF,GLYAT,GLYATL1,GLYATL2,GNG3,GPHA2,GPR137,GPR152,GSTP1,GTF2H1,GUCY2EP,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HNRNPUL2,HNRNPUL2-BSCL2,HPS5,HRASLS2,HRASLS5,HSD17B12,HTATIP2,IGHMBP2,IGSF22,IL18BP,IMMP1L,INCENP,INPPL1,INSC,INTS5,IPO7,KAT5,KBTBD4,KCNA4,KCNC1,KCNE3,KCNJ11,KCNK4,KCNK7,KDM2A,KIAA1549L,KIF18A,KLC2,KLHL35,KRT8P41,KRTAP5-10,KRTAP5-11,KRTAP5-7,KRTAP5-8,KRTAP5-9,LAMTOR1,LDHA,LDHAL6A,LDHC,LDLRAD3,LGALS12,LGR4,LIN7C,LINC00294,LINC00301,LIPT2,LMO1,LMO2,LOC100126784,LOC100129216,LOC100130348,LOC100130987,LOC100133315,LOC100500938,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC100996455,LOC221122,LOC254100,LOC283194,LOC283214,LOC283299,LOC338739,LOC440028,LOC440040,LOC441601,LOC494141,LOC644656,LOC646813,LOC729013,LPXN,LRFN4,LRP4,LRP4-AS1,LRP5,LRRC10B,LRRC32,LRRC4C,LRRC55,LRRN4CL,LRTOMT,LTBP3,LUZP2,LYVE1,MACROD1,MADD,MALAT1,MAP3K11,MAP4K2,MAP6,MAPK8IP1,MARK2,MDK,MED19,MEN1,METTL12,METTL15,MICAL2,MICALCL,MIR1237,MIR129-2,MIR130A,MIR1343,MIR139,MIR1908,MIR192,MIR194-2,MIR3160-1,MIR3160-2,MIR3162,MIR3165,MIR326,MIR3654,MIR3664,MIR3680-1,MIR3680-2,MIR3973,MIR4299,MIR4485,MIR4486,MIR4488,MIR4489,MIR4688,MIR4690,MIR4691,MIR4692,MIR4694,MIR4696,MIR548AR,MIR548K,MIR5582,MIR5691,MIR610,MIR611,MIR612,MIR670,MOGAT2,MPEG1,MPPED2,MRGPRD,MRGPRF,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRPL11,MRPL16,MRPL21,MRPL48,MRPL49,MRVI1,MRVI1-AS1,MS4A1,MS4A10,MS4A12,MS4A13,MS4A14,MS4A15,MS4A2,MS4A3,MS4A4A,MS4A5,MS4A6A,MS4A6E,MS4A7,MS4A8B,MTA2,MTCH2,MTL5,MTRNR2L8,MUC15,MUS81,MYBPC3,MYEOV,MYO7A,MYOD1,NAA40,NAALADL1,NADSYN1,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NDUFS8,NDUFV1,NEAT1,NELL1,NEU3,NLRP10,NPAS4,NR1H3,NRIP3,NRXN2,NUCB2,NUDT22,NUDT8,NUMA1,NUP160,NXF1,OMP,OR10A3,OR10A6,OR10AG1,OR10Q1,OR10V1,OR10V2P,OR10W1,OR1S1,OR1S2,OR2AT4,OR4A15,OR4A16,OR4A47,OR4A5,OR4B1,OR4C11,OR4C12,OR4C13,OR4C15,OR4C16,OR4C3,OR4C45,OR4C46,OR4C6,OR4D10,OR4D11,OR4D6,OR4D9,OR4P4,OR4S1,OR4S2,OR4X1,OR4X2,OR5A1,OR5A2,OR5AK2,OR5AK4P,OR5AN1,OR5AP2,OR5AR1,OR5AS1,OR5B12,OR5B17,OR5B2,OR5B21,OR5B3,OR5D13,OR5D14,OR5D16,OR5D18,OR5E1P,OR5F1,OR5I1,OR5J2,OR5L1,OR5L2,OR5M1,OR5M10,OR5M11,OR5M3,OR5M8,OR5M9,OR5P2,OR5P3,OR5R1,OR5T1,OR5T2,OR5T3,OR5W2,OR6Q1,OR7E14P,OR7E5P,OR8H1,OR8H2,OR8H3,OR8I2,OR8J1,OR8J3,OR8K1,OR8K3,OR8K5,OR8U1,OR8U8,OR9G1,OR9G4,OR9G9,OR9I1,OR9Q1,OR9Q2,ORAOV1,OSBP,OTUB1,OVOL1,P2RX3,P2RY2,P2RY6,P4HA3,PAAF1,PACS1,PACSIN3,PAK1,PAMR1,PARVA,PATL1,PAX6,PC,PCNXL3,PDE2A,PDE3B,PDHX,PELI3,PEX16,PGA3,PGA4,PGA5,PGM2L1,PHF21A,PHOX2A,PIK3C2A,PITPNM1,PLA2G16,PLAC1L,PLCB3,PLEKHA7,PLEKHB1,POLA2,POLD3,POLD4,POLR2G,PPFIA1,PPME1,PPP1CA,PPP1R14B,PPP1R32,PPP2R5B,PPP6R3,PRDM11,PRDX5,PRG2,PRG3,PRKRIR,PRMT3,PRPF19,PRR5L,PRRG4,PSMA1,PSMC3,PTGDR2,PTH,PTPMT1,PTPN5,PTPRCAP,PTPRJ,PYGM,QSER1,RAB1B,RAB3IL1,RAB6A,RAD9A,RAG1,RAG2,RAPSN,RARRES3,RASGRP2,RASSF10,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,RCN1,RCOR2,RELA,RELT,RHOD,RIC3,RIN1,RNASEH2C,RNF121,RNF141,RNF169,ROM1,RPL27A,RPLP0P2,RPS13,RPS3,RPS6KA4,RPS6KB2,RRAS2,RSF1,RTN3,RTN4RL2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SAC3D1,SART1,SBF2,SBF2-AS1,SCGB1A1,SCGB1D1,SCGB1D2,SCGB1D4,SCGB2A1,SCGB2A2,SCUBE2,SCYL1,SDHAF2,SEC14L1P1,SERGEF,SERPING1,SERPINH1,SF1,SF3B2,SHANK2,SHANK2-AS1,SIPA1,SLC15A3,SLC17A6,SLC1A2,SLC22A10,SLC22A11,SLC22A12,SLC22A20,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC22A9,SLC25A45,SLC29A2,SLC35C1,SLC39A13,SLC3A2,SLC43A1,SLC43A3,SLC5A12,SLC6A5,SLCO2B1,SMTNL1,SNHG1,SNORA23,SNORA3,SNORA45,SNORA57,SNORD15A,SNORD15B,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,SNORD67,SNORD97,SNX15,SNX32,SOX6,SPCS2,SPDYC,SPI1,SPON1,SPTBN2,SPTY2D1,SPTY2D1-AS1,SSH3,SSRP1,SSSCA1,ST5,STARD10,STIP1,STK33,STX3,STX5,SUV420H1,SVIP,SWAP70,SYT12,SYT13,SYT7,SYVN1,TAF6L,TBC1D10C,TBX10,TCIRG1,TCN1,TCP11L1,TEAD1,TIGD3,TIMM10,TM7SF2,TMEM109,TMEM132A,TMEM134,TMEM138,TMEM151A,TMEM179B,TMEM216,TMEM223,TMEM41B,TMEM86A,TMEM9B,TMX2,TMX2-CTNND1,TNKS1BP1,TP53I11,TPBGL,TPCN2,TPH1,TRAF6,TRIM44,TRIM48,TRIM49B,TRIM51,TRIM51GP,TRIM51HP,TRIM64C,TRIM66,TRMT112,TRPT1,TSG101,TSGA10IP,TSKU,TSPAN18,TTC17,TTC9C,TUB,TUT1,UBE2L6,UBXN1,UCP2,UCP3,UEVLD,UNC93B1,USH1C,USP47,UVRAG,VEGFB,VPS37C,VPS51,VWCE,WDR74,WEE1,WNT11,WT1,WT1-AS,XRRA1,YIF1A,YPEL4,ZBED5,ZBTB3,ZDHHC13,ZDHHC24,ZDHHC5,ZFP91,ZFP91-CNTF,ZFPL1,ZNF143,ZNF408,ZNHIT2,ZP1 chr1 177529640 177591075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177529640 177591075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 17753995 17754089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCC2 chr11 77544501 77671000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf67,INTS4 chr11 77545001 77615500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf67,INTS4 chr11 77559949 77577312 Gain and loss Pancreatic cancer SNP array 17952125 C11orf67 chr11 77559951 77577312 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C11orf67 chr11 77559951 77577312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf67 chr11 77559951 77577312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf67 chr11 77566356 77578836 Gain Normal 244K array 17666407 C11orf67 chr1 177574582 177599926 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 17757501 17905000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF10L,RCC2 chr11 77577505 77603401 Gain or loss Breast cancer - 20668451 C11orf67,INTS4 chr11 77577505 77603401 Gain or loss Cancer - 20668451 C11orf67,INTS4 chr11 77577505 77603401 Gain or loss Lung cancer - 20668451 C11orf67,INTS4 chr11 77577505 77603401 Gain or loss Ovarian cancer - 20668451 C11orf67,INTS4 chr11 77577505 77603401 Gain or loss Pancreas cancer - 20668451 C11orf67,INTS4 chr11 77577505 77603401 Gain or loss Prostate cancer - 20668451 C11orf67,INTS4 chr11 77577606 77603401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf67,INTS4 chr11 77577606 77603401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf67,INTS4 chr11 77584940 77602507 Gain and loss Pancreatic cancer SNP array 17952125 INTS4 chr11 77584940 77603401 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 INTS4 chr1 177597151 177599938 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 77600385 78203462 LOH Normal High-resolution SNP genotyping 21211785 ALG8,GAB2,INTS4,KCTD14,KCTD21,NARS2,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP,USP35 chr1 177601478 177790491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177601478 177790491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77603989 77806414 Amplification Intellectual disability 100k SNP Array 21811512 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603989 77806414 Gain or loss Breast cancer - 20668451 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603989 77806414 Gain or loss Cancer - 20668451 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603989 77806414 Gain or loss Lung cancer - 20668451 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603989 77806414 Gain or loss Ovarian cancer - 20668451 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603989 77806414 Gain or loss Pancreas cancer - 20668451 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603989 77806414 Gain or loss Prostate cancer - 20668451 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603990 77806414 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603990 77806414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603990 77806414 Gain and loss Pancreatic cancer SNP array 17952125 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr11 77603990 77806414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INTS4,KCTD14,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP chr1 177613982 177646896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 177619710 178388558 LOH Normal High-resolution SNP genotyping 21211785 LOC730102,RASAL2,RASAL2-AS1,SEC16B chr11 77628001 77630000 Copy number Normal ReadDepth: A Parallel R Package 21305028 INTS4 chr11 7762902 7808602 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 177644832 177723637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 77671001 78025200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALG8,GAB2,INTS4,KCTD14,KCTD21,NDUFC2,NDUFC2-KCTD14,RNU6-83,THRSP,USP35 chr1 177683346 177684198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177691982 177693073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7769343 7785524 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 7769343 7785524 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 7769616 7798159 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 777110 780126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NS3BP,PDDC1 chr11 777110 780126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NS3BP,PDDC1 chr11 7771230 7785071 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr1 177718817 177953882 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SEC16B chr1 177722218 177724919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 177724198 177724298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 77726654 77726734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 777331 821974 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 CEND1,NS3BP,PDDC1,PIDD,PNPLA2,RPLP2,SLC25A22,SNORA52 chr1 177734796 177757344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 7773965 7785524 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 7773965 7785524 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 7774097 7775065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7774097 7775065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 7774097 7775065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177771391 177771460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 77774116 77774385 Gain and loss Pancreatic cancer SNP array 17952125 NDUFC2-KCTD14,RNU6-83 chr11 7778616 7796879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 177786299 177811691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177786299 177811691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177789295 177791629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 77805001 77810500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNU6-83 chr1 17780550 18767187 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACTL8,ARHGEF10L,IGSF21 chr11 7781890 7793473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 177822463 177824935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 177822463 177824935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77823224 116381920 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AASDHPPT,ACAT1,ALG8,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GAB2,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KCTD21,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5579,MIR5692A1,MIR708,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NARS2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,ODZ4,OR7E2P,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNU6-83,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,USP35,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 77824893 77963474 Gain and loss Pancreatic cancer SNP array 17952125 ALG8,GAB2,KCTD21,RNU6-83,USP35 chr11 77824895 77963474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALG8,GAB2,KCTD21,RNU6-83,USP35 chr11 77824895 77963474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALG8,GAB2,KCTD21,RNU6-83,USP35 chr11 77824895 77963474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALG8,GAB2,KCTD21,RNU6-83,USP35 chr1 177827371 177927028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC16B chr1 177827371 177927028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC16B chr11 7783861 7797310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 7786462 7792856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 177872841 177872941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 177873905 177874670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 177873980 177874648 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 177874931 177875005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 7791239 8485920 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 EIF3F,LMO1,LOC283299,NLRP10,OR10A3,OR10A6,OR5E1P,OR5P2,OR5P3,RIC3,STK33,TUB chr11 7791848 7793876 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr11 77931696 77931796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAB2 chr1 177937181 177939397 Gain and loss Pancreatic cancer SNP array 17952125 SEC16B chr1 177946008 177946104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 77967951 77968048 Gain and loss Pancreatic cancer SNP array 17952125 GAB2 chr11 77967951 77968048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAB2 chr1 177978921 178051949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC730102 chr1 177978921 178051949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC730102 chr11 77979120 79868685 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 GAB2,MIR5579,MIR708,NARS2,ODZ4 chr11 78025201 78784200 Copy number Normal ReadDepth: A Parallel R Package 21305028 GAB2,NARS2,ODZ4 chr11 7803160 7804095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7803160 7804095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 7803160 7804095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7803240 7804154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 78034239 83842293 Loss Prostate cancer Array CGH 18632612 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,GAB2,LOC100506233,MIR4300,MIR5579,MIR708,NARS2,ODZ4,PCF11,PRCP,RAB30,SNORA70E chr1 178036531 178070993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RASAL2,RASAL2-AS1 chr11 78039263 80303036 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GAB2,MIR5579,MIR708,NARS2,ODZ4 chr11 78041977 78088099 Gain and loss Pancreatic cancer SNP array 17952125 GAB2 chr11 78041977 78458637 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GAB2,NARS2,ODZ4 chr11 78041977 78458637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAB2,NARS2,ODZ4 chr11 78046494 78046699 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GAB2 chr11 780478 786221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NS3BP chr11 780478 786221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NS3BP chr11 78060230 78060315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAB2 chr1 178063595 178063655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASAL2 chr11 78066412 78077527 Loss Normal 244K array 17666407 GAB2 chr1 178080577 178113557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178080577 178113557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr11 78082068 80919868 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 GAB2,MIR5579,MIR708,NARS2,ODZ4 chr11 78094751 78094843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAB2 chr1 178100200 178113539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178100200 178113539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178117800 178157206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178117800 178157206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178123578 178123641 Gain and loss Pancreatic cancer SNP array 17952125 RASAL2 chr1 178123642 178123700 Gain and loss Pancreatic cancer SNP array 17952125 RASAL2 chr1 178123701 178123771 Gain and loss Pancreatic cancer SNP array 17952125 RASAL2 chr11 78126769 78201893 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GAB2,NARS2 chr1 178136020 178136320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr11 78145545 78458637 Gain and loss Pancreatic cancer SNP array 17952125 NARS2,ODZ4 chr11 7815404 7847606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR5P2,OR5P3 chr1 178184373 178499752 Gain and loss Pancreatic cancer SNP array 17952125 RASAL2,TEX35 chr1 178190530 178346919 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 RASAL2 chr1 178190531 178350637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178190531 178350637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr11 78196600 78196700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NARS2 chr1 178198517 178198617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASAL2 chr1 178204444 178205259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178236196 178236566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr11 7827174 7827758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 7827174 7827758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 178277534 178473437 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 RASAL2 chr1 178292024 178520303 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C1orf220,RASAL2,TEX35 chr1 178294383 178599040 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 C1orf220,RASAL2,TEX35 chr11 78319902 78320002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 78339146 78387566 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ODZ4 chr11 78341826 78341923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 178344663 178344763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASAL2 chr1 178368445 178368506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASAL2 chr1 178390591 178447290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178390591 178447290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASAL2 chr1 178401001 178508000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RASAL2,TEX35 chr11 78414155 78414252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 78432915 78433015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 78448265 78481641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ODZ4 chr1 178448601 178452400 Deletion Glioma mate-paired sequence 20126413 RASAL2 chr1 178450455 178450774 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 178466065 178510811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEX35 chr1 178466065 178510811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX35 chr1 178472359 178472448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 178474909 178493937 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TEX35 chr11 78481992 78486529 Gain and loss Pancreatic cancer SNP array 17952125 ODZ4 chr11 78485597 78485677 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ODZ4 chr11 78485597 78485677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ODZ4 chr1 178492736 179184263 LOH Normal High-resolution SNP genotyping 21211785 ABL2,ANGPTL1,C1orf220,FAM20B,MIR4424,RALGPS2,TOR3A chr1 178495081 178497075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 78500456 78567751 Loss Normal Birdsuite, version 1.5.2 22087296 ODZ4 chr11 78516106 78516161 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ODZ4 chr1 178523987 178738102 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 MIR4424,RALGPS2 chr1 178524002 178738639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4424,RALGPS2 chr1 178524002 178738639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4424,RALGPS2 chr1 178540331 178540566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 178542324 178542422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 178546333 179242714 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABL2,ANGPTL1,FAM20B,MIR4424,RALGPS2,TOR3A chr1 178554688 198797604 Copy number Lung cancer paired-end sequencing 18438408 ABL2,ACBD6,ANGPTL1,APOBEC4,ARPC5,ASPM,ATP6V1G3,AXDND1,B3GALT2,C1orf21,C1orf27,C1orf53,CACNA1E,CDC73,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,DHX9,EDEM3,F13B,FAM129A,FAM163A,FAM20B,FAM5C,FLJ23867,GLRX2,GLT25D2,GLUL,GM140,HMCN1,IER5,IVNS1ABP,KCNT2,KIAA1614,LAMC1,LAMC2,LHX4,LHX9,LINC00272,LOC100131234,LOC100288079,LOC100527964,LOC284648,LOC440704,MIR1278,MIR3121,MIR4424,MIR4735,MIR548F1,MR1,NCF2,NEK7,NMNAT2,NPHS2,NPL,OCLM,PDC,PLA2G4A,PRG4,PTGS2,PTPRC,QSOX1,RALGPS2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS8,RGSL1,RNASEL,RNF2,RNU6-72,SHCBP1L,SMG7,SMG7-AS1,SOAT1,STX6,SWT1,TDRD5,TEDDM1,TOR1AIP1,TOR1AIP2,TOR3A,TPR,TRMT1L,TROVE2,TSEN15,UCHL5,XPR1,ZBTB41,ZNF648 chr1 178559613 178559936 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 178560646 178560695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 178566775 178566857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 17857036 18485275 Gain Normal Birdsuite, version 1.5.2 22087296 ACTL8,ARHGEF10L,IGSF21 chr11 78595962 81843840 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4300,MIR5579,MIR708,ODZ4 chr1 178600000 184000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABL2,ACBD6,ANGPTL1,APOBEC4,ARPC5,AXDND1,CACNA1E,CEP350,DHX9,FAM163A,FAM20B,FLJ23867,GLT25D2,GLUL,GM140,IER5,KIAA1614,LAMC1,LAMC2,LHX4,LINC00272,LOC100527964,LOC284648,MIR3121,MIR4424,MR1,NCF2,NMNAT2,NPHS2,NPL,QSOX1,RALGPS2,RGL1,RGS16,RGS8,RGSL1,RNASEL,SHCBP1L,SMG7,SMG7-AS1,SOAT1,STX6,TDRD5,TEDDM1,TOR1AIP1,TOR1AIP2,TOR3A,XPR1,ZNF648 chr1 178600000 184000000 Copy number Normal - 20680643 ABL2,ACBD6,ANGPTL1,APOBEC4,ARPC5,AXDND1,CACNA1E,CEP350,DHX9,FAM163A,FAM20B,FLJ23867,GLT25D2,GLUL,GM140,IER5,KIAA1614,LAMC1,LAMC2,LHX4,LINC00272,LOC100527964,LOC284648,MIR3121,MIR4424,MR1,NCF2,NMNAT2,NPHS2,NPL,QSOX1,RALGPS2,RGL1,RGS16,RGS8,RGSL1,RNASEL,SHCBP1L,SMG7,SMG7-AS1,SOAT1,STX6,TDRD5,TEDDM1,TOR1AIP1,TOR1AIP2,TOR3A,XPR1,ZNF648 chr1 178600000 184000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABL2,ACBD6,ANGPTL1,APOBEC4,ARPC5,AXDND1,CACNA1E,CEP350,DHX9,FAM163A,FAM20B,FLJ23867,GLT25D2,GLUL,GM140,IER5,KIAA1614,LAMC1,LAMC2,LHX4,LINC00272,LOC100527964,LOC284648,MIR3121,MIR4424,MR1,NCF2,NMNAT2,NPHS2,NPL,QSOX1,RALGPS2,RGL1,RGS16,RGS8,RGSL1,RNASEL,SHCBP1L,SMG7,SMG7-AS1,SOAT1,STX6,TDRD5,TEDDM1,TOR1AIP1,TOR1AIP2,TOR3A,XPR1,ZNF648 chr1 178600000 205300000 Loss Metanephric adenoma Oligo aCGH 20802469 ABL2,ACBD6,ADIPOR1,ADORA1,ANGPTL1,APOBEC4,ARL8A,ARPC5,ASCL5,ASPM,ATP2B4,ATP6V1G3,AXDND1,B3GALT2,BTG2,C1orf106,C1orf21,C1orf27,C1orf53,C1orf98,CACNA1E,CACNA1S,CAMSAP2,CDC73,CEP350,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CRB1,CSRP1,CYB5R1,DDX59,DENND1B,DHX9,DSTYK,EDEM3,ELF3,ETNK2,F13B,FAM129A,FAM163A,FAM20B,FAM58BP,FAM5C,FLJ23867,FMOD,GLRX2,GLT25D2,GLUL,GM140,GOLT1A,GPR25,GPR37L1,HMCN1,IER5,IGFN1,IPO9,IVNS1ABP,KCNT2,KDM5B,KDM5B-AS1,KIAA1614,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAMC1,LAMC2,LAX1,LGR6,LHX4,LHX9,LINC00260,LINC00272,LINC00303,LINC00628,LMOD1,LOC100131234,LOC100288079,LOC100527964,LOC148709,LOC284648,LOC401980,LOC440704,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR1278,MIR181A1,MIR181B1,MIR3121,MIR4424,MIR4735,MIR5191,MIR548F1,MR1,MYBPH,MYOG,NAV1,NCF2,NEK7,NFASC,NMNAT2,NPHS2,NPL,NR5A2,NUAK2,OCLM,OPTC,PDC,PHLDA3,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PRG4,PTGS2,PTPN7,PTPRC,PTPRVP,QSOX1,RABIF,RALGPS2,RBBP5,REN,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS8,RGSL1,RNASEL,RNF2,RNPEP,RNU6-72,RNU6-79,RPS10P7,SHCBP1L,SHISA4,SMG7,SMG7-AS1,SNORA77,SNRPE,SOAT1,SOX13,STX6,SWT1,SYT2,TDRD5,TEDDM1,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,TOR1AIP1,TOR1AIP2,TOR3A,TPR,TRMT1L,TROVE2,TSEN15,UBE2T,UCHL5,XPR1,ZBED6,ZBTB41,ZC3H11A,ZNF281,ZNF648 chr11 78613663 78613751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 78617129 78617201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 7862477 7863190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 178651124 178667387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 178670558 178671694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 78670756 78673957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ODZ4 chr11 78672299 78672399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 7867333 7867402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 7867333 7867402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 178682625 178682685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 78694008 134452384 Loss Wilms tumour 250K Genotyping Arrays 21544195 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5579,MIR5692A1,MIR708,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,ODZ4,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 78694583 78694655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr1 178705863 179420232 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABL2,ANGPTL1,AXDND1,FAM20B,RALGPS2,SOAT1,TOR3A chr11 78708407 78770384 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ODZ4 chr11 78714313 78819159 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ODZ4 chr11 78726845 78726939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr1 178745926 178746076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGPS2 chr1 178754775 178754878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGPS2 chr1 178780208 178854243 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ANGPTL1,RALGPS2 chr11 78780287 78780387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 78781039 78781138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 78784201 79442000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR5579,MIR708,ODZ4 chr11 78786902 78786970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ODZ4 chr11 78790714 78790801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ODZ4 chr1 178803469 178803625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGPS2 chr11 78825501 78829500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ODZ4 chr11 78835 780475 Copy number Autism exome sequencing 22495311 ANO9,ATHL1,B4GALNT4,BET1L,C11orf35,CDHR5,DEAF1,DRD4,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC100133161,LOC143666,LOC653486,LRRC56,MIR210,MIR210HG,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PKP3,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,SCGB1C1,SCT,SIGIRR,SIRT3,TALDO1,TMEM80 chr1 178838424 179410785 LOH Normal High-resolution SNP genotyping 21211785 ABL2,ANGPTL1,AXDND1,FAM20B,RALGPS2,SOAT1,TOR3A chr11 78852218 79294501 Amplification Breast cancer FISH 17142309 MIR5579,MIR708,ODZ4 chr11 78860000 79330000 Deletion Ductal carcinoma SNP array 22052326 MIR5579,MIR708,ODZ4 chr1 178867763 179122106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABL2,FAM20B,RALGPS2,TOR3A chr1 178867763 179122106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABL2,FAM20B,RALGPS2,TOR3A chr1 178867795 179122103 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ABL2,FAM20B,RALGPS2,TOR3A chr1 178867796 179122103 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 ABL2,FAM20B,RALGPS2,TOR3A chr11 78913973 78914073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 789180 795245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEND1,SLC25A22 chr11 789180 795245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEND1,SLC25A22 chr1 17894783 17898858 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF10L chr1 178948073 178948185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 78948986 78949050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr11 78961916 79006625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ODZ4 chr1 178994481 178994576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 178996885 178996985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM20B chr1 179016391 179022021 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FAM20B chr1 179016392 179022016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM20B chr1 179017029 179022129 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FAM20B chr11 79022685 79022785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr1 179027860 179027966 Gain and loss Pancreatic cancer SNP array 17952125 FAM20B chr1 179036794 179037132 Gain and loss Pancreatic cancer SNP array 17952125 FAM20B chr1 17905001 18679500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTL8,ARHGEF10L,IGSF21 chr11 7905841 7906785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283299 chr11 7905841 7906785 Gain and loss Pancreatic cancer SNP array 17952125 LOC283299 chr11 7905841 7906785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283299 chr1 179074024 179074124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABL2 chr11 79081071 79081221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ODZ4 chr1 179082079 179207535 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ABL2 chr1 179083690 179092584 Gain and loss Pancreatic cancer SNP array 17952125 ABL2 chr11 79101134 83169142 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,LOC100506233,MIR4300,MIR5579,MIR708,ODZ4,PCF11,PRCP,RAB30,SNORA70E chr11 79109790 79781289 LOH Normal High-resolution SNP genotyping 21211785 MIR5579,MIR708,ODZ4 chr11 79111198 79111287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ4 chr1 179122347 179122438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABL2 chr1 179124001 179883000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABL2,AXDND1,FAM163A,NPHS2,SOAT1,TDRD5,TOR1AIP1,TOR1AIP2 chr1 179147501 179192500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABL2 chr1 179148936 179181862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABL2 chr1 179148936 179181862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABL2 chr1 179150949 179261389 Gain and loss Pancreatic cancer SNP array 17952125 ABL2 chr11 79162785 79190837 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 7916699 7917643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283299 chr11 7916699 7917643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283299 chr11 7916708 7917655 Gain and loss Pancreatic cancer SNP array 17952125 LOC283299 chr11 79173722 79173822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 179179150 179179208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABL2 chr1 179179798 179212241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABL2 chr11 79188820 117147817 Deletion Acute myeloid leukemia - 21251322 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OR7E2P,PAFAH1B2,PANX1,PCF11,PCSK7,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,SCARNA9,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TAGLN,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr1 179199678 179199778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 179200270 179201668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 179208318 179216491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 179208798 179258669 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 179208801 179258669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 179208801 179258669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 79215247 79216247 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr1 17925154 17925254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF10L chr1 179269762 179292310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOAT1 chr1 179269762 179292310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOAT1 chr1 179274429 179287765 Gain and loss Pancreatic cancer SNP array 17952125 SOAT1 chr11 79277361 134112159 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 179284152 179284252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOAT1 chr1 179286370 179286933 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SOAT1 chr1 179299416 179305200 Gain and loss Pancreatic cancer SNP array 17952125 SOAT1 chr11 79306395 79340167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 79316017 79316055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 179324471 179326595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOAT1 chr1 179324471 179326595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOAT1 chr1 179331402 179362382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AXDND1 chr1 179347449 179373706 Gain and loss Pancreatic cancer SNP array 17952125 AXDND1 chr11 7937547 7941780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7937547 7941780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7937767 7941624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 79392835 134452384 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-688K arrays 21546498 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 79422823 79453409 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 79430501 79919600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr11 79436315 81117961 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 17945226 17945272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF10L chr1 179472147 179474363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AXDND1 chr1 179472147 179474363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AXDND1 chr1 179491793 179491954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AXDND1 chr1 179495142 179530245 Gain and loss Pancreatic cancer SNP array 17952125 AXDND1,NPHS2 chr11 79495826 79495926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 17950426 17950494 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF10L chr11 79505241 106371868 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,AMOTL1,ANGPTL5,ANKRD42,ANKRD49,ARHGAP42,BIRC2,BIRC3,C11orf54,C11orf70,C11orf73,C11orf75,C11orf82,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CNTN5,CREBZF,CTSC,CWC15,DCUN1D5,DDI1,DLG2,DYNC2H1,EED,ENDOD1,FAM181B,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KBTBD3,KDM4D,KDM4E,KIAA1377,KIAA1731,LOC100506233,LOC100506368,LOC101054525,LOC643037,LOC643733,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR3920,MIR4300,MIR4490,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NOX4,OR7E2P,PANX1,PCF11,PDGFD,PGR,PICALM,PIWIL4,PRCP,PRSS23,RAB30,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TYR,UBTFL1,VSTM5,WTAPP1,YAP1 chr11 79505241 113746962 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NOX4,NPAT,OR7E2P,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RDX,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZC3H12C,ZW10 chr11 79514985 79515084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 179540161 179588262 Gain and loss Pancreatic cancer SNP array 17952125 NPHS2,TDRD5 chr1 17954395 18026145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF10L chr1 17954395 18026145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF10L chr1 17957783 17957815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF10L chr11 79583074 80466677 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 NOT_FOUND chr1 179592250 179942215 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP350,FAM163A,TDRD5,TOR1AIP1,TOR1AIP2 chr11 79593077 79593167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 79600000 81300000 Gain Acute lymphoblastic leukemia - 21339820 NOT_FOUND chr1 179600658 179654142 Gain and loss Pancreatic cancer SNP array 17952125 TDRD5 chr1 17960530 17960601 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF10L chr1 179630335 179630417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TDRD5 chr1 179645172 179645282 Gain and loss Pancreatic cancer SNP array 17952125 TDRD5 chr1 179645193 179645281 Gain and loss Pancreatic cancer SNP array 17952125 TDRD5 chr1 179648918 180037339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP350,FAM163A,TDRD5,TOR1AIP1,TOR1AIP2 chr1 179648918 180037339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP350,FAM163A,TDRD5,TOR1AIP1,TOR1AIP2 chr1 179649202 179649339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD5 chr11 7965020 7974294 Copy number Lung cancer - 20668451 NOT_FOUND chr11 7965020 7974294 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 7965020 7974294 Gain or loss Cancer - 20668451 NOT_FOUND chr11 7965020 7974294 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 7965020 7974294 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 7965020 7974294 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 7965020 7974294 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 7965460 7976283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7965460 7976283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 7965476 7976283 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 179658544 179658607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD5 chr1 179658608 179658666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD5 chr1 179658667 179658737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD5 chr1 179659866 179661154 Gain and loss Pancreatic cancer SNP array 17952125 TDRD5 chr11 79662477 79662577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 79674268 133894755 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 179683004 179683110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 7968739 7968809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 179698820 179698920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 179724210 179846384 Gain and loss Pancreatic cancer SNP array 17952125 FAM163A,TOR1AIP2 chr1 179724210 179846384 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 FAM163A,TOR1AIP2 chr11 79740728 100733695 Deletion Cancer CGH 22183965 AMOTL1,ANKRD42,ANKRD49,ARHGAP42,C11orf54,C11orf73,C11orf75,C11orf82,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CNTN5,CREBZF,CTSC,CWC15,DLG2,EED,ENDOD1,FAM181B,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC100506233,LOC100506368,LOC643037,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR4300,MIR4490,MIR5692A1,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,OR7E2P,PANX1,PCF11,PICALM,PIWIL4,PRCP,PRSS23,RAB30,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,VSTM5 chr11 79740728 100733695 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 AMOTL1,ANKRD42,ANKRD49,ARHGAP42,C11orf54,C11orf73,C11orf75,C11orf82,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CNTN5,CREBZF,CTSC,CWC15,DLG2,EED,ENDOD1,FAM181B,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC100506233,LOC100506368,LOC643037,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR4300,MIR4490,MIR5692A1,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,OR7E2P,PANX1,PCF11,PICALM,PIWIL4,PRCP,PRSS23,RAB30,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,VSTM5 chr1 179747382 179747459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM163A chr11 79769563 79814331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 179779298 179950151 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CEP350,FAM163A,TOR1AIP1,TOR1AIP2 chr1 179791481 179942215 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP350,TOR1AIP1,TOR1AIP2 chr1 179882143 179883351 Gain Normal 244K array 17666407 TOR1AIP1 chr1 179883001 179984200 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP350,TOR1AIP1 chr1 179887056 179945696 Gain and loss Pancreatic cancer SNP array 17952125 CEP350,TOR1AIP1 chr1 179887056 179945696 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 CEP350,TOR1AIP1 chr11 79896304 84378351 Copy number Lung cancer paired-end sequencing 18438408 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,LOC100506233,MIR4300,PCF11,PRCP,RAB30,SNORA70E chr1 179896619 179897357 Loss Normal 244K array 17666407 NOT_FOUND chr1 179913657 182564101 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACBD6,CACNA1E,CEP350,FLJ23867,GLUL,GM140,IER5,KIAA1614,LHX4,LINC00272,LOC100527964,MIR3121,MR1,QSOX1,RGSL1,RNASEL,STX6,TEDDM1,XPR1,ZNF648 chr11 79914436 80668827 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr11 79916652 79916748 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 79916652 79916758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 79916652 79916758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 79920551 79920676 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 179924755 179926605 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 CEP350 chr11 79928615 79961831 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 7993714 8066385 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 EIF3F,TUB chr1 179949035 180119394 Gain and loss Pancreatic cancer SNP array 17952125 CEP350 chr1 179949035 180119394 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 CEP350 chr11 79964532 79964607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 79977044 79977144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 179986552 179986652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP350 chr11 799936 802876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIDD chr11 799936 802876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIDD chr11 799965 802876 Gain and loss Pancreatic cancer SNP array 17952125 PIDD chr1 180007325 180007414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP350 chr11 80008782 80008882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 80011921 80012020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 80018396 80052495 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 180033060 182094600 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACBD6,CACNA1E,CEP350,FLJ23867,GM140,IER5,KIAA1614,LHX4,LOC100527964,MIR3121,MR1,QSOX1,STX6,XPR1,ZNF648 chr1 18005188 18009666 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARHGEF10L chr11 80075194 80075251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 180075217 180075532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP350 chr1 180075297 180075532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP350 chr11 80075336 80113138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 80078743 80087660 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr11 80108091 80108126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 180110206 180266346 Loss Autism - 20841430 ACBD6,FLJ23867,LHX4,LOC100527964,QSOX1 chr11 80161544 80161644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8016756 8084228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3F,TUB chr11 8016756 8084228 Gain and loss Pancreatic cancer SNP array 17952125 EIF3F,TUB chr11 8016756 8084228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3F,TUB chr11 801681 801814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIDD chr1 180172737 180173057 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 180173291 180254982 Gain and loss Pancreatic cancer SNP array 17952125 LHX4,LOC100527964 chr1 180173291 180254982 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 LHX4,LOC100527964 chr1 180206145 180206230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LHX4 chr11 80235885 80245073 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 180256529 180291373 Gain and loss Pancreatic cancer SNP array 17952125 ACBD6 chr1 180290328 180297470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACBD6 chr1 180290328 180297470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD6 chr1 180300000 185800000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ACBD6,APOBEC4,ARPC5,C1orf21,CACNA1E,DHX9,EDEM3,FAM129A,GLT25D2,GLUL,GM140,HMCN1,IER5,IVNS1ABP,KIAA1614,LAMC1,LAMC2,LINC00272,LOC100288079,LOC284648,MIR3121,MR1,NCF2,NMNAT2,NPL,RGL1,RGS16,RGS8,RGSL1,RNASEL,RNF2,SHCBP1L,SMG7,SMG7-AS1,STX6,SWT1,TEDDM1,TRMT1L,TSEN15,XPR1,ZNF648 chr1 180300000 185800000 Microamplification Nephroblastoma human CGH 4.6K 1.1.2 arrays 17189400 ACBD6,APOBEC4,ARPC5,C1orf21,CACNA1E,DHX9,EDEM3,FAM129A,GLT25D2,GLUL,GM140,HMCN1,IER5,IVNS1ABP,KIAA1614,LAMC1,LAMC2,LINC00272,LOC100288079,LOC284648,MIR3121,MR1,NCF2,NMNAT2,NPL,RGL1,RGS16,RGS8,RGSL1,RNASEL,RNF2,SHCBP1L,SMG7,SMG7-AS1,STX6,SWT1,TEDDM1,TRMT1L,TSEN15,XPR1,ZNF648 chr11 80308347 134452384 Loss Wilms tumour 250K Genotyping Arrays 21544195 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4300,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 180326986 180336642 Gain and loss Pancreatic cancer SNP array 17952125 ACBD6 chr1 180336877 180629322 Gain and loss Pancreatic cancer SNP array 17952125 ACBD6,MIR3121,XPR1 chr1 180347198 180354105 Gain and loss Pancreatic cancer SNP array 17952125 ACBD6 chr1 180418488 180418854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD6 chr11 80492875 80492975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 80495598 80495652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 180529267 180529367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 80553240 80556055 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 8055485 8055585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 80555700 80555800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 180555948 180556259 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 180562826 180562932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 180564255 180564765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 180571760 180572098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 80575850 80583269 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 80582116 83333256 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,LOC100506233,MIR4300,PCF11,PRCP,RAB30,SNORA70E chr1 180609084 180609184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPR1 chr11 80610378 80626354 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 180617462 180627964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180617462 180627964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180626647 180627201 Loss Autism 1M Ailent CGH whole-genome array 21865298 XPR1 chr1 180633875 180636374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180633875 180636374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180636628 180738520 Gain and loss Pancreatic cancer SNP array 17952125 XPR1 chr1 180642001 184993600 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOBEC4,ARPC5,C1orf21,CACNA1E,DHX9,EDEM3,FAM129A,GLT25D2,GLUL,GM140,IER5,KIAA1614,LAMC1,LAMC2,LINC00272,LOC284648,MR1,NCF2,NMNAT2,NPL,RGL1,RGS16,RGS8,RGSL1,RNASEL,SHCBP1L,SMG7,SMG7-AS1,STX6,TEDDM1,TSEN15,XPR1,ZNF648 chr1 180643379 180650571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180643379 180650571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180677335 180678107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180685904 180724126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180685904 180724126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180685904 180796224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180685904 180796224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr11 80733712 80836690 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 180745974 180746039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPR1 chr1 180752468 180775003 Gain and loss Pancreatic cancer SNP array 17952125 XPR1 chr1 180754716 183730500 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 APOBEC4,ARPC5,CACNA1E,DHX9,GLUL,GM140,IER5,KIAA1614,LAMC1,LAMC2,LINC00272,LOC284648,MR1,NCF2,NMNAT2,NPL,RGL1,RGS16,RGS8,RGSL1,RNASEL,SHCBP1L,SMG7,SMG7-AS1,STX6,TEDDM1,XPR1,ZNF648 chr11 80785260 83189802 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,LOC100506233,MIR4300,PCF11,PRCP,RAB30,SNORA70E chr1 180785728 180785823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPR1 chr1 180809394 180825014 Copy number Breast cancer whole-genome tiling array-based comparative genomic hybridization 22034095 XPR1 chr1 180809395 180825001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180809395 180825001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr1 180824821 180824895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPR1 chr11 80825779 80825892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 80827763 82032423 LOH Normal High-resolution SNP genotyping 21211785 MIR4300 chr1 180835943 180840133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPR1 chr11 8084226 8147148 Gain and loss Pancreatic cancer SNP array 17952125 RIC3,TUB chr11 80842882 80843201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 80844686 80844786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 180857291 180857561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPR1 chr11 80857438 80857536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 180857551 180857728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPR1 chr11 80866138 81126708 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 8087072 8147148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIC3,TUB chr11 8087072 8147148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIC3,TUB chr1 180872506 180872614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 180872509 180872614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 180882415 180911877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1614 chr1 180882415 180911877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1614 chr11 808902 815216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPLP2,SNORA52 chr11 808902 815216 Gain and loss Pancreatic cancer SNP array 17952125 RPLP2,SNORA52 chr11 808902 815216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPLP2,SNORA52 chr11 80894247 80894347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 80914910 81015904 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 NOT_FOUND chr1 180916292 180916392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8093587 8093682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TUB chr11 80940435 80940502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 80940435 80940502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 80940849 80940915 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 80940849 80940915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 180941303 180941483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 80942598 80942666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 80942598 80942666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 80942668 80942725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 80942668 80942725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 80942726 80942796 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 80942726 80942796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 80945114 80945182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 80945114 80945182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 180946036 180946136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STX6 chr1 180956979 181720785 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CACNA1E,GM140,IER5,MR1,STX6 chr11 80981836 81131219 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr1 181016449 181016554 Gain and loss Pancreatic cancer SNP array 17952125 MR1 chr1 181016449 181016555 Gain and loss Pancreatic cancer SNP array 17952125 MR1 chr1 181025527 181066142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IER5,MR1 chr1 181025527 181066142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IER5,MR1 chr1 181036461 181036740 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 81038547 81038647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81040064 81040137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181047437 181047527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181051200 181096893 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IER5 chr11 81051361 81051435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181054509 181054720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 81059775 81059875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181075073 181123507 Deletion Prostate cancer Three-color fluorescence in situ hybridization 16820092 NOT_FOUND chr1 181075073 181123507 Triplex Non-syndromic sensorineural hearing loss PCR 20669935 NOT_FOUND chr1 181075074 181123505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 181075074 181123505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 181078830 181078924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181088071 181322820 Gain and loss Pancreatic cancer SNP array 17952125 GM140 chr11 81088432 81508270 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 1811001 1835500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNB1 chr11 81127112 81441882 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 181135624 181189176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 181135624 181189176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 81138258 81138358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181145113 181145218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81176206 81181116 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 181177873 181178162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 81178152 81198984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 81178720 81200517 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 181180123 181180248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 81181116 81181640 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 81181640 81189918 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 81183065 81183165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81183084 81192438 Loss Normal 244K array 17666407 NOT_FOUND chr1 181188364 181188454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81189919 81194913 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 181191118 181191906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 181194832 181196120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 81197066 81197166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8120013 8120113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TUB chr1 181217970 181218076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 81221182 81221282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81232026 91845398 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD42,C11orf73,C11orf82,CCDC81,CCDC83,CCDC89,CCDC90B,CHORDC1,CREBZF,CTSC,DLG2,EED,FAM181B,FOLH1B,FZD4,GRM5,GRM5-AS1,LOC100506233,LOC100506368,ME3,MIR4300,MIR4490,MIR5692A1,NAALAD2,NOX4,OR7E2P,PCF11,PICALM,PRCP,PRSS23,RAB30,RAB38,SNORA70E,SYTL2,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 81233820 81234186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 181259218 181381350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 81283883 81284036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81313343 81335467 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 181325707 181325799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81327836 81464615 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr1 181333150 181333195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181333909 181334009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 18135793 18135893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTL8 chr1 181363152 181363152 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr1 181378973 181379184 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr11 81382926 81383026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81387061 81387161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181391295 181455654 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1E chr11 8139969 8140098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RIC3 chr1 181418061 181418149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181421797 181479158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1E chr1 181421797 181479158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1E chr11 81480471 81480571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181484001 181654360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1E chr1 181484001 181654360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1E chr1 181486742 181486805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1E chr1 181491825 181675339 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1E chr1 181502360 181503043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1E chr1 181516099 181524328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1E chr1 181516438 181516538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1E chr11 81519610 81551863 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 181522219 181522281 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1E chr1 181528748 182562445 LOH Normal High-resolution SNP genotyping 21211785 CACNA1E,GLUL,LINC00272,RGSL1,RNASEL,TEDDM1,ZNF648 chr1 181528748 182564444 LOH Normal High-resolution SNP genotyping 21211785 CACNA1E,GLUL,LINC00272,RGSL1,RNASEL,TEDDM1,ZNF648 chr1 181530327 181566233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1E chr11 81534047 81540993 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr11 81534059 81540970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 81534061 81540994 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 81534064 81541768 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 181535077 181559943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1E chr1 181537408 181553310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1E chr1 181541431 181562613 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1E chr1 181542527 181589771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1E chr1 181569692 181569784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1E chr1 181575284 181575736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNA1E chr1 181577407 181577507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1E chr11 81591793 102971421 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 AMOTL1,ANGPTL5,ANKRD42,ANKRD49,ARHGAP42,BIRC2,BIRC3,C11orf54,C11orf70,C11orf73,C11orf75,C11orf82,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CNTN5,CREBZF,CTSC,CWC15,DCUN1D5,DLG2,EED,ENDOD1,FAM181B,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1377,KIAA1731,LOC100506233,LOC100506368,LOC101054525,LOC643037,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR3920,MIR4300,MIR4490,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,OR7E2P,PANX1,PCF11,PGR,PICALM,PIWIL4,PRCP,PRSS23,RAB30,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TYR,UBTFL1,VSTM5,WTAPP1,YAP1 chr11 81687397 81687478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8169001 8352500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LMO1,RIC3 chr1 181708256 181789949 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CACNA1E chr1 181708257 181789948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1E chr1 181708257 181789948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1E chr1 181715738 181715856 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1E chr1 181715740 181715856 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1E chr1 181746209 181803397 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1E chr1 181752054 181752154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1E chr11 817618 821985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNPLA2 chr11 817618 821985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNPLA2 chr11 81767896 133951370 Duplication Acute myeloid leukemia - 21251322 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CCDC90B,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506233,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCF11,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRCP,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 181791321 181826634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 181791321 181826634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 18179546 18450282 Gain and loss Pancreatic cancer SNP array 17952125 IGSF21 chr1 181798207 181798239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81809862 81810230 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 81811688 81856330 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 181818871 181857695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 8182963 8183063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIC3 chr11 8183821 8183921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIC3 chr11 818479 821985 Gain and loss Pancreatic cancer SNP array 17952125 PNPLA2 chr1 181857948 181992475 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 181859024 181871608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 181859024 181871608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 181871831 182164289 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF648 chr1 181871831 182164289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF648 chr1 181871831 182164289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF648 chr1 181882053 181889071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 181882053 181889071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 81896101 83262300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,LOC100506233,PCF11,PRCP,RAB30,SNORA70E chr11 81899476 81899581 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 81909575 83194350 Loss Normal 244K array 17666407 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,LOC100506233,PCF11,PRCP,RAB30,SNORA70E chr1 181927594 181928489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 181930204 181963726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 181952102 181952197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 181952102 181952198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 181958702 181958804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 181967348 181967415 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 181973081 181973142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 81982152 81982184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181993663 181993763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 181997187 182018043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 8202432 8246758 Gain or loss Breast cancer - 20668451 LMO1 chr11 8202432 8246758 Gain or loss Cancer - 20668451 LMO1 chr11 8202432 8246758 Gain or loss Lung cancer - 20668451 LMO1 chr11 8202432 8246758 Gain or loss Ovarian cancer - 20668451 LMO1 chr11 8202432 8246758 Gain or loss Pancreas cancer - 20668451 LMO1 chr11 8202432 8246758 Gain or loss Prostate cancer - 20668451 LMO1 chr11 8202433 8241982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 8202433 8241982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 8202433 8246758 Gain and loss Pancreatic cancer SNP array 17952125 LMO1 chr1 182046713 182052162 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 182057601 182057701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 82078249 82078458 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82091548 107946367 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-679K arrays 21546498 AASDHPPT,ALKBH8,AMOTL1,ANGPTL5,ANKRD42,ANKRD49,ARHGAP42,BIRC2,BIRC3,C11orf54,C11orf70,C11orf73,C11orf75,C11orf82,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CNTN5,CREBZF,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DLG2,DYNC2H1,EED,ELMOD1,ENDOD1,FAM181B,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,JRKL,JRKL-AS1,KBTBD3,KDM4D,KDM4E,KIAA1377,KIAA1731,LOC100506233,LOC100506368,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR3920,MIR4490,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NOX4,OR7E2P,PANX1,PCF11,PDGFD,PGR,PICALM,PIWIL4,PRCP,PRSS23,RAB30,RAB38,RAB39A,SCARNA9,SESN3,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TYR,UBTFL1,VSTM5,WTAPP1,YAP1 chr11 8210169 8254491 Amplification or deletion Cancer Array CGH 17440070 LMO1 chr11 82102238 82102270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 82120299 82120694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82120752 82156204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 82121139 82122419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82121408 82122419 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82167626 82167658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 182171589 182273486 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 182171589 182273486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 182171589 182273486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 182188599 196365692 Amplification Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 APOBEC4,ARPC5,B3GALT2,C1orf21,C1orf27,CDC73,DHX9,EDEM3,FAM129A,FAM5C,GLRX2,GLT25D2,GLUL,HMCN1,IVNS1ABP,KCNT2,LAMC1,LAMC2,LINC00272,LOC100288079,LOC284648,LOC440704,MIR1278,MIR548F1,NCF2,NMNAT2,NPL,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS8,RGSL1,RNASEL,RNF2,RNU6-72,SHCBP1L,SMG7,SMG7-AS1,SWT1,TEDDM1,TPR,TRMT1L,TROVE2,TSEN15,UCHL5 chr11 82194044 82194899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82211050 82212207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82211137 82211244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82213058 82289205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82213058 82289205 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82213058 82289205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 182219127 182219191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 82228636 85119888 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-709K arrays 21546498 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,LOC100506233,PCF11,PRCP,RAB30,SNORA70E chr11 82257125 82257220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 82257712 116383715 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-701K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD42,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf82,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CCDC90B,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM181B,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506233,LOC100506368,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OR7E2P,PANX1,PCF11,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRCP,PRSS23,PTS,RAB30,RAB38,RAB39A,RBM7,RDX,REXO2,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA70E,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 82267107 82267207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 182272001 182273500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 82272411 82272504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 82277695 82277812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 182278664 182278764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 822843 828834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4A,PNPLA2 chr11 822843 828834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4A,PNPLA2 chr1 182287434 182309969 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 182287434 182309969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 182287434 182309969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 822961 828834 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB4A,PNPLA2 chr11 82303402 82323345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82303402 82323345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82303402 82323345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82315479 82315579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 182326921 182327021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 182331219 182331317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 182334864 182334967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 182334864 182334971 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82346110 82346906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82346110 82346912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 182359000 182787000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 GLUL,LINC00272,LOC284648,NPL,RGS16,RGS8,RGSL1,RNASEL,TEDDM1 chr11 8236887 8269756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMO1 chr11 82370127 82460532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM181B chr11 82370127 82460532 Gain and loss Pancreatic cancer SNP array 17952125 FAM181B chr11 82370127 82460532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM181B chr1 182374943 182375043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 823793 823793 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PNPLA2 chr11 82379714 82379814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 82405323 82405417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 182407471 182407580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82408501 82409500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 182419701 182419780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGSL1 chr11 82430154 82430288 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82430154 82430288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 182435340 182891736 Gain and loss Pancreatic cancer SNP array 17952125 DHX9,LOC284648,NPL,RGS16,RGS8,RGSL1,RNASEL,SHCBP1L chr11 82454156 82486106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 18252303 18285672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 182542082 183804609 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 APOBEC4,ARPC5,DHX9,LAMC1,LAMC2,LOC284648,NCF2,NMNAT2,NPL,RGL1,RGS16,RGS8,RNASEL,SHCBP1L,SMG7,SMG7-AS1 chr11 82545785 82574478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRCP chr11 82545785 82574478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRCP chr11 82545833 82574481 Gain and loss Pancreatic cancer SNP array 17952125 PRCP chr11 82552236 83111027 Amplification Breast cancer FISH 17142309 ANKRD42,C11orf82,CCDC90B,LOC100506233,PCF11,PRCP,RAB30,SNORA70E chr1 182571403 182571704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS16 chr1 182571427 182571706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS16 chr11 82581470 82581790 Gain and loss Pancreatic cancer SNP array 17952125 PRCP chr11 82582939 82644682 Gain and loss Pancreatic cancer SNP array 17952125 C11orf82,PRCP chr11 82582939 82644690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf82,PRCP chr11 82582939 82644690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf82,PRCP chr1 182589475 182589686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82589527 84620725 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD42,C11orf82,CCDC90B,DLG2,LOC100506233,PCF11,PRCP,RAB30,SNORA70E chr11 82592725 82592825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRCP chr1 182599277 182599377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 82612034 85091467 Deletion Cancer Affymetrix 250K Sty array 20164920 ANKRD42,C11orf82,CCDC90B,DLG2,LOC100506233,PCF11,RAB30,SNORA70E chr1 182622773 182864778 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DHX9,NPL,RGS8 chr1 182622773 182864778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHX9,NPL,RGS8 chr1 182622773 182864778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX9,NPL,RGS8 chr1 182629726 185407441 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APOBEC4,ARPC5,C1orf21,DHX9,EDEM3,FAM129A,GLT25D2,IVNS1ABP,LAMC1,LAMC2,LOC100288079,NCF2,NMNAT2,NPL,RGL1,RGS8,RNF2,SHCBP1L,SMG7,SMG7-AS1,SWT1,TRMT1L,TSEN15 chr11 82650152 82675025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82650152 82675025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82650154 82675045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82662308 82662446 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 182665505 182665593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 8268942 8269008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LMO1 chr1 182693597 182727809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 82756273 83023070 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ANKRD42,CCDC90B,LOC100506233,PCF11,RAB30 chr1 182772607 182772691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPL chr11 82775625 82775807 Gain and loss Pancreatic cancer SNP array 17952125 RAB30 chr11 82775625 82775807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB30 chr1 182802268 182803610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 82821029 82821308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 8282634 8282771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LMO1 chr11 82843701 85015962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD42,CCDC90B,DLG2,PCF11 chr11 82843701 85015962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD42,CCDC90B,DLG2,PCF11 chr11 82845297 82845904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82847757 83923422 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD42,CCDC90B,DLG2,PCF11 chr1 182849019 182888703 Substitutions and indels small cell lung cancer array-CGH 20016488 DHX9,SHCBP1L chr11 82856041 82856909 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr1 182863914 183702537 LOH Normal High-resolution SNP genotyping 21211785 APOBEC4,ARPC5,LAMC1,LAMC2,NCF2,NMNAT2,RGL1,SHCBP1L,SMG7,SMG7-AS1 chr1 182893695 194979795 Substitutions and indels small cell lung cancer array-CGH 20016488 APOBEC4,ARPC5,B3GALT2,C1orf21,C1orf27,CDC73,EDEM3,FAM129A,FAM5C,GLRX2,GLT25D2,HMCN1,IVNS1ABP,LAMC1,LAMC2,LOC100288079,LOC440704,MIR1278,MIR548F1,NCF2,NMNAT2,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RGL1,RGS1,RGS13,RGS18,RGS2,RGS21,RNF2,RNU6-72,SHCBP1L,SMG7,SMG7-AS1,SWT1,TPR,TRMT1L,TROVE2,TSEN15,UCHL5 chr11 82902630 82905235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 82905786 82905886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD42 chr11 82910180 84247308 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD42,CCDC90B,DLG2 chr1 182925988 182990670 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 182926260 182990670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 182926260 182990670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 182934354 184723824 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APOBEC4,ARPC5,C1orf21,EDEM3,GLT25D2,LAMC1,LAMC2,NCF2,NMNAT2,RGL1,SMG7,SMG7-AS1,TSEN15 chr11 82940114 82940178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD42 chr1 182952587 182952723 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr11 82956296 82956396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD42 chr1 182969988 182970088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 829754 832529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4A chr11 829754 832529 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB4A chr11 829754 832529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4A chr1 182997645 183015343 Gain and loss Pancreatic cancer SNP array 17952125 LAMC1 chr1 183012606 183012717 Gain and loss Pancreatic cancer SNP array 17952125 LAMC1 chr1 183012626 183012717 Gain and loss Pancreatic cancer SNP array 17952125 LAMC1 chr1 183014760 183075988 Gain and loss Pancreatic cancer SNP array 17952125 LAMC1 chr1 183026789 183210305 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LAMC1,LAMC2 chr1 183026789 183210305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMC1,LAMC2 chr1 183026789 183210305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMC1,LAMC2 chr11 83027670 97884900 Loss Developmental delay affymetrix genechip 500K/SNP 6.46 array 21147756 AMOTL1,ANKRD49,C11orf54,C11orf73,C11orf75,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP57,CHORDC1,CREBZF,CTSC,CWC15,DLG2,EED,ENDOD1,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC100506368,LOC643037,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR4490,MIR5692A1,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,OR7E2P,PANX1,PICALM,PIWIL4,PRSS23,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,VSTM5 chr11 83028980 83029035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 83061169 83061248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 18306827 18577563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGSF21 chr1 18306827 18577563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF21 chr11 83069431 83069531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 18307225 18342383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 183073417 183073506 Gain and loss Pancreatic cancer SNP array 17952125 LAMC1 chr1 183073418 183073521 Gain and loss Pancreatic cancer SNP array 17952125 LAMC1 chr1 183076714 183120340 Gain and loss Pancreatic cancer SNP array 17952125 LAMC1 chr1 183081351 183087423 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LAMC1 chr1 183081352 183087407 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LAMC1 chr1 183081352 183087407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LAMC1 chr1 183101361 183102244 Gain and loss Pancreatic cancer SNP array 17952125 LAMC1 chr11 8311938 8312038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 83142304 83145565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 183144379 183161915 Gain and loss Pancreatic cancer SNP array 17952125 LAMC2 chr11 83165537 114272263 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506368,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,OR7E2P,PANX1,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRSS23,PTS,RAB38,RAB39A,RBM7,RDX,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 83166055 85338314 Duplication Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 DLG2 chr11 83178661 83180144 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 83178661 83180269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 83180068 83180143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 83203363 83204136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr1 183203661 183203982 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LAMC2 chr1 18320437 18320537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 183204426 184380649 LOH Normal High-resolution SNP genotyping 21211785 APOBEC4,ARPC5,C1orf21,GLT25D2,LAMC2,NCF2,NMNAT2,RGL1,SMG7,SMG7-AS1,TSEN15 chr11 83220920 117577719 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARHGAP20,ARHGAP42,ATM,BACE1,BACE1-AS,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP164,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OR7E2P,PAFAH1B2,PANX1,PCSK7,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRSS23,PTS,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,SCARNA9,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TAGLN,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 83231441 83231541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 183237463 183237548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NMNAT2 chr1 183250706 183250822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT2 chr11 83266085 83271705 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 DLG2 chr1 183276425 183278356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NMNAT2 chr1 183276509 183278363 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NMNAT2 chr1 183281173 183338363 Gain or loss Breast cancer - 20668451 NMNAT2 chr1 183281173 183338363 Gain or loss Cancer - 20668451 NMNAT2 chr1 183281173 183338363 Gain or loss Lung cancer - 20668451 NMNAT2 chr1 183281173 183338363 Gain or loss Ovarian cancer - 20668451 NMNAT2 chr1 183281173 183338363 Gain or loss Pancreas cancer - 20668451 NMNAT2 chr1 183281173 183338363 Gain or loss Prostate cancer - 20668451 NMNAT2 chr1 183281174 183338363 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NMNAT2 chr1 183281174 183338363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMNAT2 chr1 183281174 183338363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT2 chr11 832812 857116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD151,POLR2L,TSPAN4 chr11 832812 857116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD151,POLR2L,TSPAN4 chr11 832824 857109 Gain and loss Pancreatic cancer SNP array 17952125 CD151,POLR2L,TSPAN4 chr1 183283106 183283206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NMNAT2 chr11 83294362 83294487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 183307320 183307790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT2 chr11 8333082 8333146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8335252 8359968 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 183353837 183392661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMNAT2 chr1 183353837 183392661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT2 chr1 183353837 183392706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NMNAT2 chr1 183364423 183402407 Gain Autism Exome sequencing and CGH 22495309 NMNAT2 chr11 83366662 83366737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 183372626 183381213 Gain and loss Pancreatic cancer SNP array 17952125 NMNAT2 chr1 183392835 183527441 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NCF2,SMG7,SMG7-AS1 chr1 183392835 183527535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCF2,SMG7,SMG7-AS1 chr1 183392835 183527535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCF2,SMG7,SMG7-AS1 chr1 183407089 183407465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 83428582 83428676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 8345806 8359968 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 183462560 183463476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG7 chr11 83479618 85632927 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC83,CCDC89,CREBZF,DLG2,SYTL2,TMEM126A,TMEM126B chr1 183487068 183487166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG7 chr11 83488526 83488927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG2 chr11 8349051 10603192 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADM,AKIP1,AMPD3,ASCL3,C11orf16,DENND5A,IPO7,KRT8P41,LOC440028,LOC644656,LYVE1,MIR4485,MIR5691,MRVI1,MRVI1-AS1,MTRNR2L8,NRIP3,RNF141,RPL27A,SBF2,SBF2-AS1,SCUBE2,SNORA23,SNORA3,SNORA45,ST5,STK33,SWAP70,TMEM41B,TMEM9B,TRIM66,WEE1,ZNF143 chr1 183493666 183493770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG7 chr1 183498041 183500111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG7 chr1 183502314 183502381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG7 chr1 183516599 183517577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG7 chr1 183522835 183522920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMG7 chr11 83524141 116992039 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506368,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OR7E2P,PANX1,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRSS23,PTS,RAB38,RAB39A,RBM7,RDX,REXO2,SCARNA9,SDHD,SESN3,SIK2,SIK3,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 83528143 83533538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG2 chr1 183529762 183689770 Gain and loss Pancreatic cancer SNP array 17952125 APOBEC4,ARPC5,NCF2,RGL1 chr1 183532144 183553084 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NCF2 chr1 183532147 183553091 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NCF2 chr1 183532147 183553091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCF2 chr1 183532147 183553091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCF2 chr11 83542481 83542571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 83547488 83547588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 1835501 1845000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 183560138 183583449 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr11 83574016 115350851 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-669K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506368,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OR7E2P,PANX1,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRSS23,PTS,RAB38,RAB39A,RBM7,RDX,REXO2,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 83602589 83647251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLG2 chr1 1836126 1838593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1836126 1838593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 183639216 183672750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGL1 chr11 83639308 85073366 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DLG2 chr1 183639720 183640057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGL1 chr11 83642444 134436400 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 183669085 183669210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGL1 chr11 83671688 83671788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 183681561 184318407 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 GLT25D2,RGL1,TSEN15 chr1 183695061 184461440 LOH Normal High-resolution SNP genotyping 21211785 C1orf21,GLT25D2,RGL1,TSEN15 chr11 8369994 8572079 Gain and loss Pancreatic cancer SNP array 17952125 STK33 chr11 8369994 8572351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK33 chr11 8369994 8572351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK33 chr1 183701349 183701431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGL1 chr11 837197 857109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD151,POLR2L,TSPAN4 chr11 837197 857109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD151,POLR2L,TSPAN4 chr1 18374807 18407566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 183780065 185130060 LOH Normal High-resolution SNP genotyping 21211785 C1orf21,EDEM3,FAM129A,GLT25D2,RGL1,RNF2,SWT1,TRMT1L,TSEN15 chr11 83813054 91470306 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 C11orf73,CCDC81,CCDC83,CCDC89,CHORDC1,CREBZF,CTSC,DLG2,EED,FOLH1B,FZD4,GRM5,GRM5-AS1,LOC100506368,ME3,MIR4490,MIR5692A1,NAALAD2,NOX4,OR7E2P,PICALM,PRSS23,RAB38,SYTL2,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 8381871 9410258 Copy number Lung cancer paired-end sequencing 18438408 AKIP1,ASCL3,C11orf16,DENND5A,IPO7,KRT8P41,MIR5691,NRIP3,RPL27A,SCUBE2,SNORA3,SNORA45,ST5,STK33,TMEM41B,TMEM9B,TRIM66 chr1 183836370 183836640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGL1 chr11 83842973 83876998 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 DLG2 chr1 183851180 183851280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGL1 chr1 183855769 183855856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGL1 chr11 8385700 8385800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 183861044 183861129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGL1 chr1 183866183 183866283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGL1 chr1 183869828 183869937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGL1 chr1 1838889 1840580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1838889 1840580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 83903034 83903259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 18390580 18495712 Amplification or deletion Cancer Array CGH 17440070 IGSF21 chr11 83930264 84050160 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DLG2 chr11 83967229 85056718 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 DLG2 chr1 183970306 184426708 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf21,GLT25D2,TSEN15 chr1 183970306 184426708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf21,GLT25D2,TSEN15 chr1 183970306 184426708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf21,GLT25D2,TSEN15 chr1 183977528 210019713 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ADIPOR1,ADORA1,ARL8A,ASCL5,ASPM,ATP2B4,ATP6V1G3,AVPR1B,B3GALT2,BTG2,C1orf106,C1orf116,C1orf186,C1orf21,C1orf27,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDC73,CDK18,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DYRK3,EDEM3,EIF2D,ELF3,ELK4,ETNK2,F13B,FAIM3,FAM129A,FAM58BP,FAM5C,FAM72A,FCAMR,FMOD,G0S2,GLRX2,GLT25D2,GOLT1A,GPR25,GPR37L1,HMCN1,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,IRF6,IVNS1ABP,KCNT2,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC100288079,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC440704,LOC641515,LOC730227,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR1278,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR4260,MIR4735,MIR5191,MIR548F1,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,NUCKS1,OCLM,OPTC,PDC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PRG4,PTGS2,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RNF2,RNPEP,RNU6-72,RNU6-79,RPS10P7,SHISA4,SLC26A9,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SWT1,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,TPR,TRAF3IP3,TRMT1L,TROVE2,TSEN15,UBE2T,UCHL5,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF281 chr11 83979061 83979161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 18399097 18399197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 183992124 183992213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLT25D2 chr1 184000000 189000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C1orf21,C1orf27,EDEM3,FAM129A,GLT25D2,HMCN1,IVNS1ABP,LOC100288079,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNF2,RNU6-72,SWT1,TPR,TRMT1L,TSEN15 chr1 184000000 189000000 Copy number Normal - 20680643 C1orf21,C1orf27,EDEM3,FAM129A,GLT25D2,HMCN1,IVNS1ABP,LOC100288079,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNF2,RNU6-72,SWT1,TPR,TRMT1L,TSEN15 chr1 184000000 197500000 Amplification Non-small cell lung cancer - 21385341 ASPM,B3GALT2,C1orf21,C1orf27,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,EDEM3,F13B,FAM129A,FAM5C,GLRX2,GLT25D2,HMCN1,IVNS1ABP,KCNT2,LOC100288079,LOC440704,MIR1278,MIR4735,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RGS1,RGS13,RGS18,RGS2,RGS21,RNF2,RNU6-72,SWT1,TPR,TRMT1L,TROVE2,TSEN15,UCHL5,ZBTB41 chr1 184000000 197500000 Copy number Normal - 21701786 ASPM,B3GALT2,C1orf21,C1orf27,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,EDEM3,F13B,FAM129A,FAM5C,GLRX2,GLT25D2,HMCN1,IVNS1ABP,KCNT2,LOC100288079,LOC440704,MIR1278,MIR4735,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RGS1,RGS13,RGS18,RGS2,RGS21,RNF2,RNU6-72,SWT1,TPR,TRMT1L,TROVE2,TSEN15,UCHL5,ZBTB41 chr1 184000000 197500000 Gain primary effusion lymphomas CGH 17116491 ASPM,B3GALT2,C1orf21,C1orf27,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,EDEM3,F13B,FAM129A,FAM5C,GLRX2,GLT25D2,HMCN1,IVNS1ABP,KCNT2,LOC100288079,LOC440704,MIR1278,MIR4735,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RGS1,RGS13,RGS18,RGS2,RGS21,RNF2,RNU6-72,SWT1,TPR,TRMT1L,TROVE2,TSEN15,UCHL5,ZBTB41 chr1 184000000 212100000 Gain Breast cancer Conventional CGH 17393978 ADIPOR1,ADORA1,ARL8A,ASCL5,ASPM,ATP2B4,ATP6V1G3,AVPR1B,B3GALT2,BTG2,C1orf106,C1orf116,C1orf186,C1orf21,C1orf27,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDC73,CDK18,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DYRK3,EDEM3,EIF2D,ELF3,ELK4,ETNK2,F13B,FAIM3,FAM129A,FAM58BP,FAM5C,FAM72A,FCAMR,FMOD,G0S2,GLRX2,GLT25D2,GOLT1A,GPR25,GPR37L1,HHAT,HMCN1,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,IRF6,IVNS1ABP,KCNH1,KCNT2,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00467,LINC00628,LMOD1,LOC100131234,LOC100288079,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC440704,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR1278,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR4260,MIR4735,MIR5191,MIR548F1,MYBPH,MYOG,NAV1,NEK2,NEK7,NFASC,NR5A2,NUAK2,NUCKS1,OCLM,OPTC,PDC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PRG4,PTGS2,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RNF2,RNPEP,RNU6-72,RNU6-79,RPS10P7,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SWT1,SYT14,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,TPR,TRAF3IP3,TRAF5,TRMT1L,TROVE2,TSEN15,UBE2T,UCHL5,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF281 chr1 184000000 212100000 Loss Hepatocellular carcinoma Array CGH 16750200 ADIPOR1,ADORA1,ARL8A,ASCL5,ASPM,ATP2B4,ATP6V1G3,AVPR1B,B3GALT2,BTG2,C1orf106,C1orf116,C1orf186,C1orf21,C1orf27,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDC73,CDK18,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DYRK3,EDEM3,EIF2D,ELF3,ELK4,ETNK2,F13B,FAIM3,FAM129A,FAM58BP,FAM5C,FAM72A,FCAMR,FMOD,G0S2,GLRX2,GLT25D2,GOLT1A,GPR25,GPR37L1,HHAT,HMCN1,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,IRF6,IVNS1ABP,KCNH1,KCNT2,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00467,LINC00628,LMOD1,LOC100131234,LOC100288079,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC440704,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR1278,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR4260,MIR4735,MIR5191,MIR548F1,MYBPH,MYOG,NAV1,NEK2,NEK7,NFASC,NR5A2,NUAK2,NUCKS1,OCLM,OPTC,PDC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PRG4,PTGS2,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RNF2,RNPEP,RNU6-72,RNU6-79,RPS10P7,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SWT1,SYT14,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,TPR,TRAF3IP3,TRAF5,TRMT1L,TROVE2,TSEN15,UBE2T,UCHL5,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF281 chr11 84000000 88080000 Deletion Ductal carcinoma SNP array 22052326 C11orf73,CCDC81,CCDC83,CCDC89,CREBZF,CTSC,DLG2,EED,FZD4,LOC100506368,ME3,OR7E2P,PICALM,PRSS23,RAB38,SYTL2,TMEM126A,TMEM126B,TMEM135 chr1 18400000 23300000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,C1QA,C1QB,C1QC,C1orf151-NBL1,CAMK2N1,CAPZB,CDA,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EMC1,EPHA8,EPHB2,FAM43B,HP1BP3,HSPG2,HTR6,IFFO2,IGSF21,KIF17,KLHDC7A,LDLRAD2,LINC00339,LOC100506730,LOC100506801,LOC339505,MINOS1,MIR4253,MIR4684,MIR4695,MRTO4,MUL1,NBL1,NBPF3,OTUD3,PAX7,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PQLC2,RAP1GAP,RNF186,SH2D5,TAS1R2,TMCO4,UBR4,UBXN10,USP48,VWA5B1,WNT4,ZBTB40 chr1 184007929 184008071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 84032216 84276593 Loss Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 DLG2 chr1 184033428 184033749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TSEN15 chr11 84047285 84047382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 184050336 184051920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 84110987 84111087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84120062 84120162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 184122819 184134545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 8413599 8491218 Loss Normal 244K array 17666407 STK33 chr11 84140727 84214566 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DLG2 chr11 84152100 115840495 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-656K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506368,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OR7E2P,PANX1,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRSS23,PTS,RAB38,RAB39A,RBM7,RDX,REXO2,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 84188228 84188228 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 DLG2 chr11 84188228 84188228 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 DLG2 chr1 18419384 18419416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 84194958 84302707 Copy number loss Normal High-resolution SNP genotyping 21211785 DLG2 chr11 84194958 84305658 Copy number loss Normal High-resolution SNP genotyping 21211785 DLG2 chr11 84194958 84323550 Copy number loss Normal High-resolution SNP genotyping 21211785 DLG2 chr1 184200315 184245679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 84206376 84206476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84211479 84214566 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DLG2 chr11 84211479 84233615 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DLG2 chr1 184230203 184230303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 84244816 84244848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84253815 84253915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84260432 84364210 Gain Stenocardia MACArray Karyo 56K BAC-chips 21860640 DLG2 chr11 84260432 84364210 Gain Vasospasm MACArray Karyo 56K BAC-chips 21860640 DLG2 chr1 184263894 184264920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 184323025 184323125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1843260 1849228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALML6,TMEM52 chr1 1843260 1849228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALML6,TMEM52 chr11 84340066 84340166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84354772 84783036 Deletion Breast cancer FISH 17142309 DLG2 chr11 84370744 84452983 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DLG2 chr11 84394066 84641586 Copy number Lung cancer paired-end sequencing 18438408 DLG2 chr1 184396317 185206930 LOH Normal High-resolution SNP genotyping 21211785 C1orf21,EDEM3,FAM129A,RNF2,SWT1,TRMT1L chr11 84400832 84401034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG2 chr11 84408588 84423159 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DLG2 chr11 84409473 84410345 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 84409473 84410345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 84436478 84478248 Loss Normal Birdsuite, version 1.5.2 22087296 DLG2 chr1 184437532 184437632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf21 chr1 184437786 184455411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf21 chr11 84447402 105734987 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AMOTL1,ANGPTL5,ANKRD49,ARHGAP42,BIRC2,BIRC3,C11orf54,C11orf70,C11orf73,C11orf75,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP57,CHORDC1,CNTN5,CREBZF,CTSC,CWC15,DCUN1D5,DDI1,DLG2,DYNC2H1,EED,ENDOD1,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1377,KIAA1731,LOC100506368,LOC101054525,LOC643037,LOC643733,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR3920,MIR4490,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,OR7E2P,PANX1,PDGFD,PGR,PICALM,PIWIL4,PRSS23,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TYR,UBTFL1,VSTM5,WTAPP1,YAP1 chr11 84470241 84470444 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 84470241 84470444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr1 18447901 18493116 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGSF21 chr11 84483268 84483322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 1845001 1909000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CALML6,KIAA1751,TMEM52 chr11 84523070 85478789 LOH Normal High-resolution SNP genotyping 21211785 CCDC89,CREBZF,DLG2,SYTL2,TMEM126A,TMEM126B chr1 184532594 184550309 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf21 chr1 184532594 184550309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf21 chr1 184532594 184550309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf21 chr1 184534605 184534638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf21 chr1 184542501 184544000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf21 chr1 184547411 184611383 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf21 chr1 184547411 184611383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf21 chr1 184547411 184611383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf21 chr1 184547580 184547683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf21 chr1 184588241 184588341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf21 chr1 184594231 184594414 Loss Autism 1M Ailent CGH whole-genome array 21865298 C1orf21 chr1 184608383 184608488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 184611623 184657126 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 184611624 184657122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 184611624 184657122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 184611624 184657122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 184612758 184612858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 184630746 184632531 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 84656478 85175966 Copy number Lung cancer paired-end sequencing 18438408 DLG2 chr1 184662172 184662252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EDEM3 chr1 184665399 184665480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EDEM3 chr11 84670650 84670997 Copy number Normal Paralogue Ratio Test systems 17175532 DLG2 chr1 184679347 184696868 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EDEM3 chr1 184679347 184696868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EDEM3 chr1 184679347 184696868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EDEM3 chr11 84690912 84691012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84695124 86095201 Duplication Obesity Illumina SNP array 20622171 C11orf73,CCDC81,CCDC83,CCDC89,CREBZF,DLG2,EED,PICALM,SYTL2,TMEM126A,TMEM126B chr1 1 84700000 Deletion Medulloblastoma SNP arrays 21979893 AADACL3,AADACL4,ACADM,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DOCK7,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GABRD,GADD45A,GALE,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LPHN2,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AP,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,ROR1,RPA2,RPE65,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC35E2,SLC35E2B,SLC44A5,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 84701775 84701875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 184717073 186846060 Gain and loss Barrett's syndrome BAC array 19417022 C1orf27,EDEM3,FAM129A,HMCN1,IVNS1ABP,LOC100288079,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNF2,RNU6-72,SWT1,TPR,TRMT1L chr1 184717073 186846060 Loss Barrett's syndrome BAC array 19417022 C1orf27,EDEM3,FAM129A,HMCN1,IVNS1ABP,LOC100288079,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNF2,RNU6-72,SWT1,TPR,TRMT1L chr11 84729710 84729785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84748189 84748289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84755001 86247700 Copy number Normal ReadDepth: A Parallel R Package 21305028 C11orf73,CCDC81,CCDC83,CCDC89,CREBZF,DLG2,EED,ME3,PICALM,SYTL2,TMEM126A,TMEM126B chr11 84785319 84785403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84811642 124583747 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CD3D,CD3E,CD3G,CEP164,CEP57,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FOXR1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPHL1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NLRX1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,POU2AF1,POU2F3,PPP2R1B,PRSS23,PTS,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SORL1,SPA17,SRSF8,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 84811642 126916549 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,ABCG4,ACAT1,ACRV1,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NLRX1,NNMT,NOX4,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRSS23,PTS,PUS3,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SORL1,SPA17,SRPR,SRSF8,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 84811642 86481659 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 C11orf73,CCDC81,CCDC83,CCDC89,CREBZF,DLG2,EED,ME3,PICALM,SYTL2,TMEM126A,TMEM126B chr1 184814034 184815054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM129A chr1 184816268 184816946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM129A chr1 18482886 18483030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF21 chr11 84837924 84838024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84846497 84846597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr1 184856627 184856968 Gain and loss Pancreatic cancer SNP array 17952125 FAM129A chr1 184856631 184856959 Gain and loss Pancreatic cancer SNP array 17952125 FAM129A chr11 84858128 85107139 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG2 chr11 8485920 9191002 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AKIP1,ASCL3,C11orf16,DENND5A,KRT8P41,MIR5691,NRIP3,RPL27A,SCUBE2,SNORA3,SNORA45,ST5,STK33,TMEM9B,TRIM66 chr11 84869209 88333920 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C11orf73,CCDC81,CCDC83,CCDC89,CREBZF,CTSC,DLG2,EED,FZD4,GRM5,GRM5-AS1,LOC100506368,ME3,OR7E2P,PICALM,PRSS23,RAB38,SYTL2,TMEM126A,TMEM126B,TMEM135 chr11 84871747 85834445 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC83,CCDC89,CREBZF,DLG2,PICALM,SYTL2,TMEM126A,TMEM126B chr11 84872660 84872952 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 84872660 84872952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 84880605 84880709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG2 chr11 84881384 84881456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG2 chr11 84883729 117087195 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-718K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP57,CHORDC1,CLDN25,CNTN5,CREBZF,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DLG2,DRD2,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OR7E2P,PAFAH1B2,PANX1,PCSK7,PDGFD,PGR,PICALM,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PRSS23,PTS,RAB38,RAB39A,RBM7,RDX,REXO2,SCARNA9,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TAGLN,TEX12,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 84898630 84898736 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 84898630 84898736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr1 1 84900000 Amplification Esophageal squamous carcinoma CGH 18350619 AADACL3,AADACL4,ACADM,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DOCK7,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GABRD,GADD45A,GALE,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LPHN2,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AP,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,ROR1,RPA2,RPE65,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SAMD13,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC35E2,SLC35E2B,SLC44A5,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 84900000 Loss Basal cell lymphoma Array CGH 16317097 AADACL3,AADACL4,ACADM,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DOCK7,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GABRD,GADD45A,GALE,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LPHN2,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AP,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,ROR1,RPA2,RPE65,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SAMD13,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC35E2,SLC35E2B,SLC44A5,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 1 84900000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 AADACL3,AADACL4,ACADM,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DDX11L1,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DOCK7,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GABRD,GADD45A,GALE,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LPHN2,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AP,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,ROR1,RPA2,RPE65,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SAMD13,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC35E2,SLC35E2B,SLC44A5,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 184907591 184916179 Amplification Adenocarcinoma FISH 19001599 FAM129A chr1 184907591 184916179 Amplification Non-small cell lung cancer FISH 19001599 FAM129A chr1 184907591 184916179 Amplification Squamous cell cancer FISH 19001599 FAM129A chr1 184907592 184916179 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM129A chr1 184907592 184916179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM129A chr1 184907592 184916179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM129A chr11 84913379 85604583 Copy number loss Normal High-resolution SNP genotyping 21211785 CCDC83,CCDC89,CREBZF,DLG2,SYTL2,TMEM126A,TMEM126B chr11 84913379 85604583 LOH Normal High-resolution SNP genotyping 21211785 CCDC83,CCDC89,CREBZF,DLG2,SYTL2,TMEM126A,TMEM126B chr11 84921012 84921112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 84926199 84928028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG2 chr11 84926365 84950487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLG2 chr11 84940676 84952423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG2 chr11 84942421 84950332 Loss Normal 244K array 17666407 DLG2 chr11 8494412 8494512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK33 chr11 84948993 84958207 Copy number Parkinson disease PennCNV and QuantiSNP 21829596 DLG2 chr1 184953055 184953087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 184988736 186820544 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf27,HMCN1,IVNS1ABP,LOC100288079,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNF2,RNU6-72,SWT1,TPR,TRMT1L chr11 85017296 85025210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85017296 85025210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85017321 85025202 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 85020009 85020378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG2 chr11 85020345 85281636 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG2 chr1 185029601 185033600 Deletion Glioma mate-paired sequence 20126413 RNF2 chr11 85036669 85045227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85036669 85045227 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 85036669 85045227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85042204 85600090 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CCDC83,CCDC89,CREBZF,DLG2,SYTL2,TMEM126A,TMEM126B chr11 85049533 85053794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85049533 85053794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85049761 85053794 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 85062165 85063165 Gain Osteosarcoma References 21215367 DLG2 chr1 185064654 185224736 Gain or loss Breast cancer - 20668451 RNF2,SWT1,TRMT1L chr1 185064654 185224736 Gain or loss Cancer - 20668451 RNF2,SWT1,TRMT1L chr1 185064654 185224736 Gain or loss Lung cancer - 20668451 RNF2,SWT1,TRMT1L chr1 185064654 185224736 Gain or loss Ovarian cancer - 20668451 RNF2,SWT1,TRMT1L chr1 185064654 185224736 Gain or loss Pancreas cancer - 20668451 RNF2,SWT1,TRMT1L chr1 185064654 185224736 Gain or loss Prostate cancer - 20668451 RNF2,SWT1,TRMT1L chr1 185064655 185224726 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF2,SWT1,TRMT1L chr1 185064655 185224726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF2,SWT1,TRMT1L chr1 185064655 185224726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF2,SWT1,TRMT1L chr11 85073697 85074821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85073697 85074821 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 85073697 85074821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85076504 85076604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG2 chr11 85082915 85146692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85082915 85146692 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 85082915 85146692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr1 185089907 187703805 Duplication Schizophrenia PennCNV software 19197363 C1orf27,HMCN1,IVNS1ABP,LOC100288079,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNU6-72,SWT1,TPR,TRMT1L chr1 18509788 18509887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF21 chr11 85126395 85140807 Substitutions and indels small cell lung cancer array-CGH 20016488 DLG2 chr11 85134471 85135471 Gain Osteosarcoma References 21215367 DLG2 chr11 85137935 85169285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLG2 chr11 85145631 91723347 Substitutions and indels small cell lung cancer array-CGH 20016488 C11orf73,CCDC81,CCDC83,CCDC89,CHORDC1,CREBZF,CTSC,DLG2,EED,FOLH1B,FZD4,GRM5,GRM5-AS1,LOC100506368,ME3,MIR4490,MIR5692A1,NAALAD2,NOX4,OR7E2P,PICALM,PRSS23,RAB38,SYTL2,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr1 185170173 185170282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SWT1 chr1 185189381 185189481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SWT1 chr11 85190596 85341866 Copy number Lung cancer paired-end sequencing 18438408 DLG2,TMEM126B chr1 185231353 185231453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SWT1 chr1 185234584 185303327 Allelic imbalance Normal High-resolution SNP genotyping 21211785 IVNS1ABP,LOC100288079,SWT1 chr11 85243792 85308699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85243792 85308699 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 85243792 85308699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG2 chr11 85245795 85247071 Gain and loss Pancreatic cancer SNP array 17952125 DLG2 chr11 85263381 86090338 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-710K arrays 21546498 C11orf73,CCDC81,CCDC83,CCDC89,CREBZF,DLG2,EED,PICALM,SYTL2,TMEM126A,TMEM126B chr11 85287777 85321470 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLG2 chr1 18529666 18529761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IGSF21 chr11 85300000 123500000 Deletion Breast cancer high-resolution aCGH 21958427 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CD3D,CD3E,CD3G,CEP164,CEP57,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FOXR1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPHL1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NLRX1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,OAF,OR7E2P,PAFAH1B2,PANX1,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,POU2AF1,POU2F3,PPP2R1B,PRSS23,PTS,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SORL1,SRSF8,SYTL2,TAF1D,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 85300000 130300000 Loss Glioblastoma multiforme aCGH 21080181 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CCDC89,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CREBZF,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DLG2,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SORL1,SPA17,SRPR,SRSF8,ST14,ST3GAL4,STT3A,SYTL2,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM126A,TMEM126B,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 85300000 87900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C11orf73,CCDC81,CCDC83,CCDC89,CREBZF,DLG2,EED,FZD4,LOC100506368,ME3,OR7E2P,PICALM,PRSS23,RAB38,SYTL2,TMEM126A,TMEM126B,TMEM135 chr11 85300000 87900000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 C11orf73,CCDC81,CCDC83,CCDC89,CREBZF,DLG2,EED,FZD4,LOC100506368,ME3,OR7E2P,PICALM,PRSS23,RAB38,SYTL2,TMEM126A,TMEM126B,TMEM135 chr11 85300000 92300000 Deletion Attention deficit hyperactivity disorder high-density microarrays 22241247 C11orf73,CCDC81,CCDC83,CCDC89,CHORDC1,CREBZF,CTSC,DLG2,EED,FAT3,FOLH1B,FZD4,GRM5,GRM5-AS1,LOC100506368,ME3,MIR4490,MIR5692A1,NAALAD2,NOX4,OR7E2P,PICALM,PRSS23,RAB38,SYTL2,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 85300000 96700000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMOTL1,ANKRD49,C11orf54,C11orf73,C11orf75,CCDC67,CCDC81,CCDC82,CCDC83,CCDC89,CEP57,CHORDC1,CREBZF,CTSC,CWC15,DLG2,EED,ENDOD1,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,FZD4,GPR83,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC100506368,LOC643037,MAML2,ME3,MED17,MIR1260B,MIR1304,MIR4490,MIR5692A1,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,OR7E2P,PANX1,PICALM,PIWIL4,PRSS23,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,SYTL2,TAF1D,TMEM126A,TMEM126B,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,VSTM5 chr11 8533139 8533269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK33 chr1 185342870 185342970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 85346132 85457756 Gain or loss Breast cancer - 20668451 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr11 85346132 85457756 Gain or loss Cancer - 20668451 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr11 85346132 85457756 Gain or loss Lung cancer - 20668451 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr11 85346132 85457756 Gain or loss Ovarian cancer - 20668451 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr11 85346132 85457756 Gain or loss Pancreas cancer - 20668451 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr11 85346132 85457756 Gain or loss Prostate cancer - 20668451 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr11 85346134 85457749 Gain and loss Pancreatic cancer SNP array 17952125 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr11 85346379 85457787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr11 85346379 85457787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B chr1 185348387 186115394 LOH Normal High-resolution SNP genotyping 21211785 HMCN1,MIR548F1 chr11 85356286 85646244 Copy number Lung cancer paired-end sequencing 18438408 CCDC83,CCDC89,CREBZF,SYTL2,TMEM126A chr11 85360688 85360772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM126A chr1 185379909 185393300 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 185387415 185387496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 185391930 222493387 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALT2,BATF3,BPNT1,BTG2,C1orf106,C1orf115,C1orf116,C1orf140,C1orf186,C1orf227,C1orf27,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDC73,CDK18,CENPF,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DTL,DUSP10,DYRK3,EIF2D,ELF3,ELK4,EPRS,ESRRG,ETNK2,F13B,FAIM3,FAM58BP,FAM5C,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GLRX2,GOLT1A,GPATCH2,GPR25,GPR37L1,HHAT,HLX,HMCN1,HSD11B1,IARS2,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC440704,LOC641515,LOC643723,LOC728463,LOC730227,LPGAT1,LRRN2,LYPLAL1,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIR1231,MIR1278,MIR135B,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR4260,MIR4735,MIR5191,MIR548F1,MIR664,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OCLM,OPTC,PDC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PRG4,PROX1,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,RAB3GAP2,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,RRP15,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC30A10,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA36B,SNORA77,SNRPE,SOX13,SPATA17,SRGAP2,SYT14,SYT2,TATDN3,TGFB2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TPR,TRAF3IP3,TRAF5,TROVE2,UBE2T,UCHL5,USH2A,VASH2,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF281 chr11 85392749 85392849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 85394793 85506208 Amplification or deletion Cancer Array CGH 17440070 CCDC89,SYTL2 chr1 185407441 189200640 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNU6-72,TPR chr11 85411199 85411297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYTL2 chr1 185416624 185416724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 185417324 185431648 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 185419192 185419281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 185420688 185431913 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 85425075 85425175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYTL2 chr11 85430347 85430381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYTL2 chr11 85446131 85916076 Copy number Lung cancer paired-end sequencing 18438408 CCDC83,PICALM,SYTL2 chr11 85482882 85482983 Gain and loss Pancreatic cancer SNP array 17952125 SYTL2 chr11 85482882 85482983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYTL2 chr1 18553172 18555605 Gain and loss Pancreatic cancer SNP array 17952125 IGSF21 chr11 85535340 85535434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 18553923 18553972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IGSF21 chr11 85541917 85542021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 85541917 85542024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 85541918 85542021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 85542839 127750541 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AASDHPPT,ABCG4,ACAT1,ACRV1,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC83,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NLRX1,NNMT,NOX4,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PICALM,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRSS23,PTS,PUS3,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SORL1,SPA17,SRPR,SRSF8,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 85553830 85553929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8555485 8795697 Loss Barrett's syndrome BAC array 19417022 RPL27A,SNORA3,SNORA45,ST5,STK33,TRIM66 chr1 185556774 185621510 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 185564990 185567314 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 85566595 85577002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC83 chr11 85566766 85567252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC83 chr1 1855992 1856076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 85600000 92800000 Loss Breast cancer Microarray-based CGH 17133270 C11orf73,CCDC81,CCDC83,CHORDC1,CTSC,EED,FAT3,FOLH1B,FZD4,GRM5,GRM5-AS1,LOC100506368,ME3,MIR4490,MIR5692A1,MTNR1B,NAALAD2,NOX4,OR7E2P,PICALM,PRSS23,RAB38,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr1 185607565 186594235 Copy number loss Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PRG4,RNU6-72,TPR chr1 185607565 186594235 LOH Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PRG4,RNU6-72,TPR chr1 185616888 186594235 Copy number loss Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PRG4,RNU6-72,TPR chr1 185616888 186594235 LOH Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PRG4,RNU6-72,TPR chr11 85633463 85667426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 85633463 85667426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 85633463 85667426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 185647346 185651444 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 185649343 185758880 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 HMCN1 chr11 85660488 85783391 Copy number Lung cancer paired-end sequencing 18438408 PICALM chr1 185666427 185671656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 85668850 85927071 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PICALM chr11 85690936 85734632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PICALM chr11 85690936 85734632 Gain and loss Pancreatic cancer SNP array 17952125 PICALM chr11 85690936 85734632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PICALM chr1 185700549 185700649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 85711835 85711935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PICALM chr11 85712702 85712988 Gain and loss Pancreatic cancer SNP array 17952125 PICALM chr11 85712702 85712988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PICALM chr11 85712704 85712999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PICALM chr1 185729601 185734900 Deletion Glioma mate-paired sequence 20126413 HMCN1 chr1 185731458 185733106 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HMCN1 chr11 85733549 86472504 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C11orf73,CCDC81,EED,ME3,PICALM chr1 185742582 185742682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMCN1 chr11 85763426 85811798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PICALM chr11 85763426 85811798 Gain and loss Pancreatic cancer SNP array 17952125 PICALM chr11 85763426 85811798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PICALM chr1 185771856 185772054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMCN1 chr1 185779904 186037673 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 HMCN1,MIR548F1 chr11 85797566 85854756 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 185798816 185799886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMCN1 chr1 185800000 190800000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 C1orf27,FAM5C,HMCN1,LOC440704,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNU6-72,TPR chr1 185800000 198700000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ASPM,ATP6V1G3,B3GALT2,C1orf27,C1orf53,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,FAM5C,GLRX2,HMCN1,KCNT2,LHX9,LOC440704,MIR1278,MIR4735,MIR548F1,NEK7,OCLM,PDC,PLA2G4A,PRG4,PTGS2,PTPRC,RGS1,RGS13,RGS18,RGS2,RGS21,RNU6-72,TPR,TROVE2,UCHL5,ZBTB41 chr1 185800000 198700000 Gain Non-small cell lung cancer FISH 19010865 ASPM,ATP6V1G3,B3GALT2,C1orf27,C1orf53,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,FAM5C,GLRX2,HMCN1,KCNT2,LHX9,LOC440704,MIR1278,MIR4735,MIR548F1,NEK7,OCLM,PDC,PLA2G4A,PRG4,PTGS2,PTPRC,RGS1,RGS13,RGS18,RGS2,RGS21,RNU6-72,TPR,TROVE2,UCHL5,ZBTB41 chr1 185800000 198700000 Loss Mental retardation Array CGH 17847001 ASPM,ATP6V1G3,B3GALT2,C1orf27,C1orf53,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,FAM5C,GLRX2,HMCN1,KCNT2,LHX9,LOC440704,MIR1278,MIR4735,MIR548F1,NEK7,OCLM,PDC,PLA2G4A,PRG4,PTGS2,PTPRC,RGS1,RGS13,RGS18,RGS2,RGS21,RNU6-72,TPR,TROVE2,UCHL5,ZBTB41 chr1 185800000 214500000 Gain Basal cell lymphoma CGH 17170743 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AVPR1B,B3GALT2,BATF3,BTG2,C1orf106,C1orf116,C1orf186,C1orf227,C1orf27,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDC73,CDK18,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DTL,DYRK3,EIF2D,ELF3,ELK4,ETNK2,F13B,FAIM3,FAM58BP,FAM5C,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GLRX2,GOLT1A,GPR25,GPR37L1,HHAT,HMCN1,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KCNT2,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC440704,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR1278,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR3122,MIR4260,MIR4735,MIR5191,MIR548F1,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OCLM,OPTC,PDC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PRG4,PROX1,PTGS2,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RNPEP,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TATDN3,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TPR,TRAF3IP3,TRAF5,TROVE2,UBE2T,UCHL5,VASH2,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF281 chr1 185800000 214500000 Gain Follicular lymphoma CGH 17170743 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AVPR1B,B3GALT2,BATF3,BTG2,C1orf106,C1orf116,C1orf186,C1orf227,C1orf27,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDC73,CDK18,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DTL,DYRK3,EIF2D,ELF3,ELK4,ETNK2,F13B,FAIM3,FAM58BP,FAM5C,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GLRX2,GOLT1A,GPR25,GPR37L1,HHAT,HMCN1,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KCNT2,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC440704,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR1278,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR3122,MIR4260,MIR4735,MIR5191,MIR548F1,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OCLM,OPTC,PDC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PRG4,PROX1,PTGS2,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RNPEP,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TATDN3,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TPR,TRAF3IP3,TRAF5,TROVE2,UBE2T,UCHL5,VASH2,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF281 chr11 85829798 86061075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf73,EED chr11 85829798 86061075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf73,EED chr11 85829886 86061004 Gain and loss Pancreatic cancer SNP array 17952125 C11orf73,EED chr11 858396 900823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHID1,TSPAN4 chr11 858396 900823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHID1,TSPAN4 chr11 858396 901461 Gain and loss Pancreatic cancer SNP array 17952125 CHID1,TSPAN4 chr1 18584918 18585187 Gain and loss Pancreatic cancer SNP array 17952125 IGSF21 chr1 185851501 185853250 Copy number Normal ReadDepth: A Parallel R Package 21305028 HMCN1 chr1 185862859 186958669 LOH Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNU6-72,TPR chr11 85868791 86092178 Copy number Lung cancer paired-end sequencing 18438408 C11orf73,CCDC81,EED chr1 185896059 185896159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMCN1 chr11 8590160 8649989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK33,TRIM66 chr11 85908100 85908180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 85934609 85934704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 85936061 134452384 Copy number Lung cancer paired-end sequencing 18438408 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf73,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC81,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EED,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,ME3,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PRSS23,PTS,PUS3,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 8593662 8636959 Gain and loss Pancreatic cancer SNP array 17952125 STK33,TRIM66 chr1 185942315 185944652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMCN1 chr1 185949997 185950489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMCN1 chr11 8595492 8595580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK33 chr1 185961034 185961134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMCN1 chr11 85963610 85964370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EED chr11 85975230 85975329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EED chr1 185978190 186244871 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMCN1,MIR548F1,RNU6-72 chr1 185978190 186380985 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1orf27,HMCN1,MIR548F1,OCLM,PRG4,RNU6-72,TPR chr11 85979901 85986100 Deletion Glioma mate-paired sequence 20126413 EED chr1 185980701 185991100 Deletion Glioma mate-paired sequence 20126413 HMCN1 chr11 85981860 85984707 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 EED chr11 85981860 85984707 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 EED chr11 85981879 85984206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EED chr1 185982557 185988318 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 HMCN1 chr1 185982557 185988318 Total allelic loss Normal High-resolution SNP genotyping 21211785 HMCN1 chr1 185982557 185988620 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 HMCN1 chr1 185982557 185988620 Total allelic loss Normal High-resolution SNP genotyping 21211785 HMCN1 chr1 185982557 185990343 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 HMCN1 chr1 185982557 185990343 Total allelic loss Normal High-resolution SNP genotyping 21211785 HMCN1 chr1 185982728 185989155 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HMCN1 chr1 185983546 185990343 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 HMCN1 chr1 185983546 185990343 Total allelic loss Normal High-resolution SNP genotyping 21211785 HMCN1 chr1 185988620 196143033 Copy number gain Normal High-resolution SNP genotyping 21211785 B3GALT2,C1orf27,CDC73,FAM5C,GLRX2,HMCN1,LOC440704,MIR1278,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RGS1,RGS13,RGS18,RGS2,RGS21,RNU6-72,TPR,TROVE2,UCHL5 chr1 185988620 197376640 Copy number gain Normal High-resolution SNP genotyping 21211785 ASPM,B3GALT2,C1orf27,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,F13B,FAM5C,GLRX2,HMCN1,KCNT2,LOC440704,MIR1278,MIR4735,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RGS1,RGS13,RGS18,RGS2,RGS21,RNU6-72,TPR,TROVE2,UCHL5,ZBTB41 chr1 185988620 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,B3GALT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf27,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CEP170,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DENND1B,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,FAIM3,FAM177B,FAM58BP,FAM5C,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GLRX2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC440704,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR1278,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR5008,MIR5191,MIR548F1,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OCLM,OPN3,OPTC,PARP1,PCNXL2,PDC,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PRG4,PROX1,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TROVE2,TSNAX,TSNAX-DISC1,TTC13,UBE2T,UCHL5,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF238,ZNF281,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 185990343 186753663 Copy number loss Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PRG4,PTGS2,RNU6-72,TPR chr1 185990343 187801929 Copy number gain Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNU6-72,TPR chr1 185990343 197111672 Copy number gain Normal High-resolution SNP genotyping 21211785 ASPM,B3GALT2,C1orf27,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,F13B,FAM5C,GLRX2,HMCN1,KCNT2,LOC440704,MIR1278,MIR4735,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RGS1,RGS13,RGS18,RGS2,RGS21,RNU6-72,TPR,TROVE2,UCHL5 chr1 185990343 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,B3GALT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf27,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CEP170,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DENND1B,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,FAIM3,FAM177B,FAM58BP,FAM5C,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GLRX2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC440704,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR1278,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR5008,MIR5191,MIR548F1,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OCLM,OPN3,OPTC,PARP1,PCNXL2,PDC,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PRG4,PROX1,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TROVE2,TSNAX,TSNAX-DISC1,TTC13,UBE2T,UCHL5,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF238,ZNF281,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 185990343 247249719 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,B3GALT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf27,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CEP170,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DENND1B,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,FAIM3,FAM177B,FAM58BP,FAM5C,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GLRX2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC440704,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR1278,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR5008,MIR5191,MIR548F1,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OCLM,OPN3,OPTC,PARP1,PCNXL2,PDC,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PRG4,PROX1,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TROVE2,TSNAX,TSNAX-DISC1,TTC13,UBE2T,UCHL5,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF238,ZNF281,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 185993165 185993265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMCN1 chr11 85997956 86009281 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 85997956 86016483 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C11orf73 chr1 186026038 186893808 LOH Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNU6-72,TPR chr11 8605658 8605753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK33 chr11 86085785 86085826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC81 chr1 186087015 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,B3GALT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf27,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CEP170,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DENND1B,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,FAIM3,FAM177B,FAM58BP,FAM5C,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GLRX2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC440704,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR1278,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR5008,MIR5191,MIR548F1,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OCLM,OPN3,OPTC,PARP1,PCNXL2,PDC,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLA2G4A,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PRG4,PROX1,PRSS38,PSEN2,PTGS2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-72,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TROVE2,TSNAX,TSNAX-DISC1,TTC13,UBE2T,UCHL5,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF238,ZNF281,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 186087925 186244871 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMCN1,MIR548F1,RNU6-72 chr1 186091024 186091124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMCN1,MIR548F1 chr1 18609968 18610068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF21 chr1 186099758 186099852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMCN1,MIR548F1 chr11 86106371 92937356 Copy number Lung cancer paired-end sequencing 18438408 CCDC81,CHORDC1,CTSC,FAT3,FOLH1B,FZD4,GRM5,GRM5-AS1,LOC100506368,ME3,MIR4490,MIR5692A1,MTNR1B,NAALAD2,NOX4,OR7E2P,PRSS23,RAB38,SLC36A4,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr1 186127863 187186942 LOH Normal High-resolution SNP genotyping 21211785 C1orf27,HMCN1,MIR548F1,OCLM,PDC,PLA2G4A,PRG4,PTGS2,RNU6-72,TPR chr1 18618237 18663887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGSF21 chr11 86189139 86199923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ME3 chr11 86189139 86199923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ME3 chr11 86189211 86199919 Gain and loss Pancreatic cancer SNP array 17952125 ME3 chr11 86195189 86195307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ME3 chr11 86195359 86195485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ME3 chr11 86210129 86210217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ME3 chr11 86221278 86221791 Gain and loss Pancreatic cancer SNP array 17952125 ME3 chr11 86221278 86221791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ME3 chr11 86229344 86229444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ME3 chr11 86230705 86230805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ME3 chr11 86235313 86235413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ME3 chr11 86253820 86603075 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ME3,OR7E2P,PRSS23 chr11 86253820 87787494 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FZD4,LOC100506368,ME3,OR7E2P,PRSS23,TMEM135 chr11 86276059 86276159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ME3 chr1 186295113 186295712 Gain and loss Pancreatic cancer SNP array 17952125 MIR548F1,TPR chr11 86300943 86301043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ME3 chr1 186303073 186303279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F1,TPR chr11 86319456 86319554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ME3 chr11 86334368 86344081 Gain or loss Breast cancer - 20668451 ME3 chr11 86334368 86344081 Gain or loss Cancer - 20668451 ME3 chr11 86334368 86344081 Gain or loss Lung cancer - 20668451 ME3 chr11 86334368 86344081 Gain or loss Ovarian cancer - 20668451 ME3 chr11 86334368 86344081 Gain or loss Pancreas cancer - 20668451 ME3 chr11 86334368 86344081 Gain or loss Prostate cancer - 20668451 ME3 chr11 86334370 86344081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ME3 chr11 86334370 86344081 Gain and loss Pancreatic cancer SNP array 17952125 ME3 chr11 86334370 86344081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ME3 chr11 86357621 86392521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ME3 chr1 186391593 186391934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F1 chr1 186400062 186444794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548F1,PDC chr1 186413714 186413799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548F1,PDC chr11 86426548 86712215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FZD4,LOC100506368,OR7E2P,PRSS23 chr11 86426548 86712215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FZD4,LOC100506368,OR7E2P,PRSS23 chr11 86426548 86712216 Gain and loss Pancreatic cancer SNP array 17952125 FZD4,LOC100506368,OR7E2P,PRSS23 chr1 186432841 186542295 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548F1 chr11 86445556 86445656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 86456481 127953177 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 AASDHPPT,ABCG4,ACAT1,ACRV1,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ENDOD1,ESAM,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,FZD4,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100506368,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NLRX1,NNMT,NOX4,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR7E2P,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRSS23,PTS,PUS3,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SORL1,SPA17,SRPR,SRSF8,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM135,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 186459864 186720923 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-282K arrays 21546498 PTGS2 chr11 86463458 91574130 Duplication Obesity Illumina SNP array 20622171 CHORDC1,CTSC,FOLH1B,FZD4,GRM5,GRM5-AS1,LOC100506368,MIR4490,MIR5692A1,NAALAD2,NOX4,OR7E2P,PRSS23,RAB38,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr1 186477893 186478432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 186483207 186515272 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 86503685 86503768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 18651567 18651667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF21 chr11 86522976 86567759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 186535714 186535814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8659364 8659429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM66 chr11 8660571 8667978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM66 chr11 8660571 8667978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM66 chr11 8660915 8664958 Gain and loss Pancreatic cancer SNP array 17952125 TRIM66 chr1 186620491 186620591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8662350 8662479 Gain and loss Pancreatic cancer SNP array 17952125 TRIM66 chr11 8662350 8662479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM66 chr11 8662362 8662479 Gain and loss Pancreatic cancer SNP array 17952125 TRIM66 chr11 8663562 8663692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM66 chr11 8663564 8663692 Gain and loss Pancreatic cancer SNP array 17952125 TRIM66 chr11 86642323 86642374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 86647539 86647966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 86647647 86647951 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 8665168 8667767 Gain and loss Pancreatic cancer SNP array 17952125 TRIM66 chr11 86687882 87576345 LOH Normal High-resolution SNP genotyping 21211785 LOC100506368,TMEM135 chr11 8671478 8817478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPL27A,SNORA3,SNORA45,ST5,TRIM66 chr11 8671478 8817478 Gain and loss Pancreatic cancer SNP array 17952125 RPL27A,SNORA3,SNORA45,ST5,TRIM66 chr11 8671478 8817478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPL27A,SNORA3,SNORA45,ST5,TRIM66 chr11 86724749 86739737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 86728633 86728706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1867337 1867424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 186753663 188045058 LOH Normal High-resolution SNP genotyping 21211785 PLA2G4A chr1 186753663 188361164 LOH Normal High-resolution SNP genotyping 21211785 PLA2G4A chr11 867601 872764 Gain Normal 244K array 17666407 CHID1 chr11 86760972 87787494 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TMEM135 chr1 18676692 18689203 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IGSF21 chr1 18677118 18710692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGSF21 chr1 186782302 186782385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 186784046 186784105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 86794462 86794562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM135 chr1 18679501 18682500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGSF21 chr1 186798454 187178416 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G4A chr1 18680011 18685207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGSF21 chr1 18680011 18685207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF21 chr11 86804097 86804176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM135 chr1 186804101 186808700 Deletion Glioma mate-paired sequence 20126413 PLA2G4A chr1 186806078 186806852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLA2G4A chr1 18682501 19070500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGSF21,KLHDC7A,PAX7 chr11 86825128 86825228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM135 chr11 86865081 86865181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM135 chr1 186879397 186913678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLA2G4A chr11 86879498 114690549 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-703K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CHORDC1,CLDN25,CNTN5,CRYAB,CTSC,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,PANX1,PDGFD,PGR,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PTS,RAB38,RAB39A,RBM7,RDX,REXO2,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TEX12,TIMM8B,TMEM123,TMEM133,TMEM135,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 86885371 86930263 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM135 chr11 86887292 86887392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM135 chr1 186906439 186906471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLA2G4A chr1 186907107 186907513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4A chr1 186930074 186930865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4A chr1 186988087 186988187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 86989875 86989975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM135 chr11 86995323 86995425 Gain and loss Pancreatic cancer SNP array 17952125 TMEM135 chr11 86995323 86995425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM135 chr1 186999717 186999817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87000000 107000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 AASDHPPT,AMOTL1,ANGPTL5,ANKRD49,ARHGAP42,BIRC2,BIRC3,C11orf54,C11orf70,C11orf75,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CHORDC1,CNTN5,CTSC,CWC15,DCUN1D5,DDI1,DYNC2H1,ENDOD1,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,GPR83,GRIA4,GRM5,GRM5-AS1,GUCY1A2,HEPHL1,JRKL,JRKL-AS1,KBTBD3,KDM4D,KDM4E,KIAA1377,KIAA1731,LOC101054525,LOC643037,LOC643733,MAML2,MED17,MIR1260B,MIR1304,MIR3920,MIR4490,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NOX4,PANX1,PDGFD,PGR,PIWIL4,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TMEM123,TMEM133,TMEM135,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TYR,UBTFL1,VSTM5,WTAPP1,YAP1 chr1 187003093 187003193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87010324 87010363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM135 chr1 187022627 187822245 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 18702806 18807938 Gain and loss Pancreatic cancer SNP array 17952125 IGSF21,KLHDC7A chr1 187029250 187031681 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr11 87037029 87037142 Gain and loss Pancreatic cancer SNP array 17952125 TMEM135 chr11 87037029 87037143 Gain and loss Pancreatic cancer SNP array 17952125 TMEM135 chr11 87037029 87037143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM135 chr1 187096108 187099462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 187106397 187111133 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 18711039 18711107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 187111133 187130328 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 87121720 87121869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 18712199 18712468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 187130328 187350656 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 87143833 87143933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87166652 129162426 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AASDHPPT,ABCG4,ACAT1,ACRV1,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CTSC,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GRM5-AS1,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NLRX1,NNMT,NOX4,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PTS,PUS3,PVRL1,RAB38,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SORL1,SPA17,SRPR,SRSF8,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 87191828 87191928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 187192857 187192950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87202314 87202575 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87202314 87202967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 87202596 87202660 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87202596 87202660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 87203108 87203175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87203108 87203175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 87203178 87203243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87203178 87203243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 187204206 187741773 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 87204696 87204763 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87204696 87204763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 18721495 18721560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87226893 87226983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 872364 1051564 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2A2,CHID1,MUC6 chr11 872364 1313968 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2A2,CHID1,MUC2,MUC5B,MUC6,TOLLIP chr1 187261572 187261906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 187275910 187276010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8728553 8762673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST5 chr1 187289233 187297984 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr1 187299590 187299651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 18730908 18775580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 87310077 87354860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 87328455 87328542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1873 3533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 87341237 87424069 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 187351585 187351855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 187353623 187359115 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 187353623 187359115 Loss,gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 187353708 187360189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 187353840 187354239 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr1 187368104 187369046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 187372692 189200640 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 87377032 87377173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8741158 8741249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST5 chr11 8741389 8966149 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AKIP1,ASCL3,C11orf16,ST5 chr11 87424497 87424597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1874612 1925136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1751 chr1 1874612 1925136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1751 chr11 87472811 87472919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87472811 87472921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 87486064 87548249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 87486064 87548249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87486064 87548249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 8749287 8749387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST5 chr1 187500 188100 Copy number Lymphoma KC-SMARTR 21070656 NOT_FOUND chr1 187510591 187513516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 187512812 187939468 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 187512812 187939468 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 87516154 87516186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 187516192 187731903 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 187525424 187576828 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 187555433 187572158 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 87558193 87558509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 87561909 87562672 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 87562016 87562310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 187592364 187592960 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 187592960 187593757 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 187593757 187593758 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 187593758 187719770 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 187603423 187736400 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 187610383 187693945 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr11 87650277 87650377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 187657515 187657598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87666408 87710586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87666421 87710586 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 87666421 87710586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 87666421 87710586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 18767187 19870518 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AKR7A2,AKR7A3,AKR7L,ALDH4A1,CAPZB,EMC1,IFFO2,KLHDC7A,LOC100506730,MIR4695,MRTO4,PAX7,PQLC2,TAS1R2,UBR4 chr1 187674150 187803635 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 87678689 87678776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 187681783 187681880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 187691555 187858801 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 187697993 187858801 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 187719770 187803954 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 87719881 87884158 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 RAB38 chr11 87744868 88710145 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87744868 88921633 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTSC,GRM5,GRM5-AS1,RAB38,TYR chr1 187758622 187758722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87775451 87775556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 187778051 188009465 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 87780816 88900232 LOH Normal High-resolution SNP genotyping 21211785 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87781001 87782039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87787086 87791549 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr1 187795103 187814249 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 187795103 187816208 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 187796818 187797385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 187802307 187803635 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 187803954 187814261 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 187811350 187995942 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 187811350 188009465 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 87817182 87817282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 187818593 187828998 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 87822656 87822751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1878428 1880895 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 187871426 187871526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87873967 87874062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB38 chr11 87880625 88438761 Gain or loss Breast cancer - 20668451 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87880625 88438761 Gain or loss Cancer - 20668451 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87880625 88438761 Gain or loss Lung cancer - 20668451 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87880625 88438761 Gain or loss Ovarian cancer - 20668451 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87880625 88438761 Gain or loss Pancreas cancer - 20668451 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87880625 88438761 Gain or loss Prostate cancer - 20668451 CTSC,GRM5,GRM5-AS1,RAB38 chr1 187880834 187925704 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 87881006 88438761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87881006 88438761 Gain and loss Pancreatic cancer SNP array 17952125 CTSC,GRM5,GRM5-AS1,RAB38 chr11 87881006 88438761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTSC,GRM5,GRM5-AS1,RAB38 chr1 187890295 188217703 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-265K arrays 21546498 NOT_FOUND chr11 87900000 92300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CHORDC1,CTSC,FAT3,FOLH1B,GRM5,GRM5-AS1,MIR4490,MIR5692A1,NAALAD2,NOX4,RAB38,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 87900000 92300000 Gain Multiple myeloma CGH, FISH 16461302 CHORDC1,CTSC,FAT3,FOLH1B,GRM5,GRM5-AS1,MIR4490,MIR5692A1,NAALAD2,NOX4,RAB38,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 87900000 92300000 Loss Non-small cell lung cancer dChip 21829676 CHORDC1,CTSC,FAT3,FOLH1B,GRM5,GRM5-AS1,MIR4490,MIR5692A1,NAALAD2,NOX4,RAB38,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 87900000 96700000 Loss Glioblastoma multiforme aCGH 21080181 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CHORDC1,CTSC,CWC15,ENDOD1,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,GPR83,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MIR4490,MIR5692A1,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,PANX1,PIWIL4,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,VSTM5 chr11 87900000 96700000 Loss Malignant fibrous histiocytomas aCGH 21085701 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CHORDC1,CTSC,CWC15,ENDOD1,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,GPR83,GRM5,GRM5-AS1,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MIR4490,MIR5692A1,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,PANX1,PIWIL4,RAB38,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,VSTM5 chr1 187905439 187905539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87908033 87908133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB38 chr1 187928269 187928335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 18794493 18794699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 87948177 87980011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 8795671 8801536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST5 chr11 87958907 88202679 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CTSC chr1 187971130 188049982 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 187971131 188049979 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 187971861 188047092 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 187974617 187974874 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr11 87977625 87977625 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr11 87981822 87981922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 87985621 87985727 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 87985621 87985727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 88016385 88016485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88025749 88025849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88074716 88119830 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr1 188078918 189387037 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 88083993 88339832 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GRM5,GRM5-AS1 chr1 188093016 188093116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188096756 213315040 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AVPR1B,B3GALT2,BATF3,BTG2,C1orf106,C1orf116,C1orf186,C1orf227,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDC73,CDK18,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DTL,DYRK3,EIF2D,ELF3,ELK4,ETNK2,F13B,FAIM3,FAM58BP,FAM5C,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GLRX2,GOLT1A,GPR25,GPR37L1,HHAT,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KCNT2,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00467,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC440704,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR1278,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR3122,MIR4260,MIR4735,MIR5191,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RNPEP,RNU6-79,RPS10P7,RPS6KC1,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SNORA16B,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TATDN3,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,TROVE2,UBE2T,UCHL5,VASH2,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF281 chr11 8810335 8810393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST5 chr11 88109811 88130542 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 1881192 1882874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 188119964 188120741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 88142620 88339832 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GRM5,GRM5-AS1 chr11 88163581 88163681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188174093 189387037 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 188174093 190615996 LOH Normal High-resolution SNP genotyping 21211785 FAM5C,LOC440704 chr1 188174670 188174770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188186242 188186464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188186454 188186665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88202448 88339832 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GRM5,GRM5-AS1 chr1 188206664 188206746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88213547 88213641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188225287 188228850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 8823386 8823473 Gain and loss Pancreatic cancer SNP array 17952125 ST5 chr11 8823386 8823473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr1 188236989 188236991 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 188236991 188253049 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 188267078 188267178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88269449 88351661 Deletion Attention deficit hyperactivity disorder - 22138692 GRM5 chr11 88269449 88351661 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 GRM5 chr11 8827064 8827154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST5 chr1 18827384 18872290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 188285714 190133376 LOH Normal High-resolution SNP genotyping 21211785 FAM5C chr11 88299467 88312253 Gain Normal 244K array 17666407 GRM5 chr11 88300000 135006516 Loss Breast cancer Microarray-based CGH 17133270 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLH1B,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GRM5,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NOX4,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TTC36,TYR,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 88300000 92800000 Copy number Autism Illumina Infinium II HumanHap550 BeadChip 19546859 CHORDC1,FAT3,FOLH1B,GRM5,MIR4490,MIR5692A1,MTNR1B,NAALAD2,NOX4,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 88300000 92800000 Copy number Fragile x Illumina Infinium II HumanHap550 BeadChip 19546859 CHORDC1,FAT3,FOLH1B,GRM5,MIR4490,MIR5692A1,MTNR1B,NAALAD2,NOX4,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 88300000 92800000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 CHORDC1,FAT3,FOLH1B,GRM5,MIR4490,MIR5692A1,MTNR1B,NAALAD2,NOX4,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr11 88300000 92800000 Copy number Tourette syndrome Illumina Infinium II HumanHap550 BeadChip 19546859 CHORDC1,FAT3,FOLH1B,GRM5,MIR4490,MIR5692A1,MTNR1B,NAALAD2,NOX4,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1 chr1 18830086 18935219 Copy number Lung cancer - 20668451 NOT_FOUND chr1 18830086 18935219 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 18830086 18935219 Gain or loss Cancer - 20668451 NOT_FOUND chr1 18830086 18935219 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 18830086 18935219 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 18830086 18935219 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 18830086 18935219 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 18830087 18944010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 18830087 18944010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 88312730 88312880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM5 chr11 88313134 88315539 Loss Normal 244K array 17666407 GRM5 chr11 88314479 89105516 Loss or gain Normal 244K array 17666407 GRM5,NOX4,TYR chr1 188319280 188320492 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 188333420 188713382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 188333420 188713382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 88340850 88477412 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GRM5 chr1 188377390 189387037 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 1 88400000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AADACL3,AADACL4,ACADM,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BCL10,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DCDC2B,DDAH1,DDI2,DDOST,DDX11L1,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DOCK7,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GABRD,GADD45A,GALE,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLTPD1,GMEB1,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LPAR3,LPHN2,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AP,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,ODF2L,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,ROR1,RPA2,RPE65,RPF1,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SAMD13,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC35E2,SLC35E2B,SLC44A5,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYDE2,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR63,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 188438087 188438187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188438208 188438386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 88452 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 DDX11L1,FAM138A,FAM138F,OR4F5,WASH7P chr1 188461135 188461235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188465846 188465946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88485526 88485640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRM5 chr11 88491069 114551819 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-673K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CHORDC1,CLDN25,CNTN5,CRYAB,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,GPR83,GRIA4,GRM5,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,PANX1,PDGFD,PGR,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 8851449 8851549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST5 chr1 18852986 18868045 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 18852986 18872278 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 18852986 18874335 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 88534643 88534739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM5 chr11 88546631 88548586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRM5 chr11 88550268 88668474 Gain and loss Pancreatic cancer SNP array 17952125 GRM5 chr11 88550688 88668574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRM5 chr11 88550688 88668574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRM5 chr11 8855540 8855641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr11 8855541 8855641 Gain and loss Pancreatic cancer SNP array 17952125 ST5 chr11 8855542 8855641 Gain and loss Pancreatic cancer SNP array 17952125 ST5 chr11 88561310 88561410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM5 chr1 188575322 188575422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188576449 188578385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 88604131 88607578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRM5 chr1 188615716 188615929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188615920 188616020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188618906 188619006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188637504 188637604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 8866143 8885523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST5 chr11 88664046 88665110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRM5 chr11 88666557 88667062 Gain and loss Pancreatic cancer SNP array 17952125 GRM5 chr11 88666557 88667062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRM5 chr1 188669453 188669548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88699163 88864301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRM5 chr11 88699163 88864301 Gain and loss Pancreatic cancer SNP array 17952125 GRM5 chr11 88699163 88864301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRM5 chr1 188704896 188704995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 18876921 18877021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188796113 188813022 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 188802693 188813022 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 88810000 114630000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CHORDC1,CLDN25,CNTN5,CRYAB,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLH1B,FOLR4,FUT4,GPR83,GRIA4,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4490,MIR4491,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NNMT,NOX4,NPAT,NXPE1,NXPE2,NXPE4,PANX1,PDGFD,PGR,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,TTC12,TYR,UBTFL1,USP28,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr1 188832686 188832851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88846612 94585583 Loss Wilms tumour 250K Genotyping Arrays 21544195 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CHORDC1,FAT3,FOLH1B,FOLR4,FUT4,GPR83,HEPHL1,KIAA1731,LOC643037,MED17,MIR1304,MIR4490,MIR5692A1,MRE11A,MTNR1B,NAALAD2,NOX4,PANX1,PIWIL4,SCARNA9,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TYR,UBTFL1,VSTM5 chr1 188857034 188857088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 188859257 188886599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 8887306 8887447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST5 chr11 8889277 8898195 Gain and loss Pancreatic cancer SNP array 17952125 ST5 chr11 8889277 8898202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr11 8889277 8898202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr11 889001 916000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHID1 chr11 88908782 88908950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88908882 88908954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88908940 88909040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88908942 88909183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 88926120 88926220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TYR chr1 188936317 188950940 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 88939114 88939214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TYR chr11 8898200 8911111 Gain and loss Pancreatic cancer SNP array 17952125 ST5 chr11 8898200 8911129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr11 8898200 8911129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr11 88996756 88996924 Gain and loss Pancreatic cancer SNP array 17952125 TYR chr1 189000000 192100000 Copy number Normal - 20680643 FAM5C,LOC440704 chr1 189000000 192100000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 FAM5C,LOC440704 chr1 189000000 192100000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 FAM5C,LOC440704 chr1 189000000 192100000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 FAM5C,LOC440704 chr1 189000000 197500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,FAM5C,GLRX2,KCNT2,LOC440704,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr11 89011995 89071531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOX4,TYR chr11 89011995 89071531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOX4,TYR chr1 189012940 189640525 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr1 189017540 189017748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 89032113 89071531 Gain and loss Pancreatic cancer SNP array 17952125 NOX4 chr1 189033277 189033709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 89034083 90799304 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHORDC1,FOLH1B,MIR4490,MIR5692A1,NAALAD2,NOX4,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,UBTFL1 chr11 89082686 89569836 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FOLH1B,NOX4,TRIM49,TRIM77P chr11 89083121 89155175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89083148 89346696 Gain and loss Pancreatic cancer SNP array 17952125 NOX4 chr1 189091731 189091849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 189103943 189104113 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 18911399 18931461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 89126345 89126782 Gain and loss Pancreatic cancer SNP array 17952125 NOX4 chr11 89139743 89141042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr1 189143434 189363313 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-288K arrays 21546498 NOT_FOUND chr11 8915695 8921156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr11 8915695 8921156 Gain and loss Pancreatic cancer SNP array 17952125 ST5 chr11 8915695 8921156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr11 89162036 89196311 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOX4 chr11 89169255 89187752 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOX4 chr11 89170471 89181391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89170471 89181391 Gain and loss Pancreatic cancer SNP array 17952125 NOX4 chr11 89170471 89181391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89171227 89244396 Gain Normal aCGH 21627829 NOX4 chr1 189177217 189177383 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 89182847 89223857 Loss Normal 244K array 17666407 NOX4 chr11 89207823 89372535 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOX4 chr11 89214894 89226439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89214894 89226439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 8921503 8921590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST5 chr11 89227784 89235883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89227784 89235883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89236664 89238413 Gain and loss Pancreatic cancer SNP array 17952125 NOX4 chr11 89237927 89238152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89240000 89930000 Loss Breast cancer aCGH 21509527 FOLH1B,MIR5692A1,NAALAD2,NOX4,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,UBTFL1 chr1 189243006 189272400 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 189243006 189275047 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 189243006 189282183 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 189243006 189283891 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 189243006 189288451 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 189243006 189288794 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 189243006 189298445 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 189243006 189300599 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 89243400 89248851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89243400 89248851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOX4 chr11 89243446 89372559 Gain and loss Pancreatic cancer SNP array 17952125 NOX4 chr1 189245233 189275004 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 189246831 189247041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 189247080 189247208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 89249646 89257073 Loss Normal aCGH 21627829 NOX4 chr11 8925416 8942565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKIP1,C11orf16,ST5 chr11 8925416 8942565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKIP1,C11orf16,ST5 chr11 8925417 8942578 Gain and loss Pancreatic cancer SNP array 17952125 AKIP1,C11orf16,ST5 chr11 89260012 89266452 Gain or loss Normal aCGH 21627829 NOX4 chr11 89260045 89266047 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOX4 chr1 189261501 189263000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 189262148 189292449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 89262217 89273721 Loss Normal aCGH 21627829 NOX4 chr11 89269297 89401565 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FOLH1B,NOX4 chr11 89269297 89401565 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 FOLH1B,NOX4 chr1 189276582 189280809 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 89286313 104569095 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AMOTL1,ANGPTL5,ANKRD49,ARHGAP42,BIRC2,BIRC3,C11orf54,C11orf70,C11orf75,CCDC67,CCDC82,CEP57,CHORDC1,CNTN5,CWC15,DCUN1D5,DDI1,DYNC2H1,ENDOD1,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1377,KIAA1731,LOC101054525,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MIR3920,MIR4490,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,PANX1,PDGFD,PGR,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TMEM123,TMEM133,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,UBTFL1,VSTM5,WTAPP1,YAP1 chr1 189293012 189293112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 89295514 104865304 Triplication Acute myeloid leukemia - 21251322 AMOTL1,ANGPTL5,ANKRD49,ARHGAP42,BIRC2,BIRC3,C11orf54,C11orf70,C11orf75,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CHORDC1,CNTN5,CWC15,DCUN1D5,DDI1,DYNC2H1,ENDOD1,FAM76B,FAT3,FOLH1B,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1377,KIAA1731,LOC101054525,LOC643037,LOC643733,MAML2,MED17,MIR1260B,MIR1304,MIR3920,MIR4490,MIR4693,MIR5692A1,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MTMR2,MTNR1B,NAALAD2,NOX4,PANX1,PDGFD,PGR,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TMEM123,TMEM133,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,TRPC6,UBTFL1,VSTM5,WTAPP1,YAP1 chr11 89316403 89324061 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOX4 chr11 89316403 89324061 Loss Normal aCGH 21627829 NOX4 chr11 89323861 89330021 Gain or loss Normal aCGH 21627829 NOT_FOUND chr11 89324164 89328039 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 89324164 89328039 Gain or loss Normal aCGH 21627829 NOT_FOUND chr1 189328731 189328831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 89332812 89340513 Loss Normal aCGH 21627829 NOT_FOUND chr1 189336954 189361095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 89340497 92492545 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHORDC1,FAT3,FOLH1B,MIR4490,MIR5692A1,NAALAD2,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,TRIM77P,UBTFL1 chr11 89341302 89346742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 89341302 89346742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 89351729 89352215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 89351729 89353478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 189370442 190044143 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 189381756 189382714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 189416955 189417440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 18943232 18974378 Gain and loss Pancreatic cancer SNP array 17952125 PAX7 chr11 89444572 89445871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM77P chr11 89444572 89445871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM77P chr11 89458766 89459203 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 89466721 90593194 LOH Normal High-resolution SNP genotyping 21211785 CHORDC1,MIR4490,MIR5692A1,NAALAD2,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,UBTFL1 chr11 89491207 89491277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 89491207 89491277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 89502943 90173207 Amplification Breast cancer FISH 17142309 CHORDC1,MIR5692A1,NAALAD2,TRIM49,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRIM64B,UBTFL1 chr11 89507491 89565416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM49 chr11 89507491 89565416 Gain and loss Pancreatic cancer SNP array 17952125 TRIM49 chr11 89507491 89565416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM49 chr1 189509828 189513063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 8951543 9571659 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ASCL3,C11orf16,DENND5A,IPO7,KRT8P41,LOC644656,MIR5691,NRIP3,SCUBE2,SNORA23,TMEM41B,TMEM9B,ZNF143 chr11 89572162 89572500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR5692A1 chr11 89573832 89595827 Gain and loss Pancreatic cancer SNP array 17952125 MIR5692A1,TRIM53AP chr11 89574265 89595854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5692A1,TRIM53AP chr11 89574265 89595854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5692A1,TRIM53AP chr1 189574539 189575057 Loss Normal 244K array 17666407 NOT_FOUND chr1 18957499 19075360 Amplification Alveolar rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 PAX7 chr1 189576456 189576772 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 189576534 189576772 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 8957850 8982124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASCL3,TMEM9B chr11 8957850 8982124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASCL3,TMEM9B chr11 89592113 89630557 Gain Normal Birdsuite, version 1.5.2 22087296 MIR5692A1,TRIM64B chr11 8960970 8982124 Gain and loss Pancreatic cancer SNP array 17952125 ASCL3,TMEM9B chr11 89619573 132739159 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CHORDC1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,GPR83,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4490,MIR4491,MIR4492,MIR4493,MIR4693,MIR5692A1,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NAALAD2,NCAM1,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SRPR,SRSF8,ST14,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UBTFL1,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 89630 1049259 Substitutions and indels small cell lung cancer array-CGH 20016488 ANO9,AP2A2,ATHL1,B4GALNT4,BET1L,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC100133161,LOC143666,LOC653486,LRRC56,MIR210,MIR210HG,MUC6,NLRP6,NS3BP,ODF3,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,RPLP2,SCGB1C1,SCT,SIGIRR,SIRT3,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 chr11 89630599 89635319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR5692A1 chr11 8964188 9267707 Loss Normal 244K array 17666407 ASCL3,DENND5A,KRT8P41,MIR5691,NRIP3,SCUBE2,TMEM9B chr11 89655474 89656810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5692A1 chr11 89655474 90567241 Gain and loss Pancreatic cancer SNP array 17952125 CHORDC1,MIR4490,MIR5692A1,NAALAD2,TRIM49C,TRIM49DP,TRIM49L1,TRIM53AP,TRIM64,UBTFL1 chr11 89686525 90042012 Copy number gain Normal High-resolution SNP genotyping 21211785 CHORDC1,NAALAD2,TRIM49C,TRIM53AP,TRIM64,UBTFL1 chr1 189694471 189695470 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 89697592 89697700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 189708114 189736543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 189716557 189760178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 189736944 189737011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 189759485 189759517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 18976081 19028027 Gain and loss Pancreatic cancer SNP array 17952125 PAX7 chr1 189760821 189786771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 18977363 18989065 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PAX7 chr1 189780937 191601925 LOH Normal High-resolution SNP genotyping 21211785 FAM5C,LOC440704 chr1 189797257 189806901 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 8979844 8979984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM9B chr1 189804292 192389810 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 FAM5C,LOC440704,RGS18,RGS21 chr1 189822818 189952713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 89833355 89835645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 189863314 190881293 LOH Normal High-resolution SNP genotyping 21211785 FAM5C,LOC440704 chr1 189879833 189887399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 189883150 189883331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 189883602 189883702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 89895154 89895254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALAD2 chr11 89939534 89939622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHORDC1 chr11 8994250 9028637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRIP3 chr11 89961211 89961296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 189983338 189992781 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 89984971 90015007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 8998511 9069731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRIP3,SCUBE2 chr11 8998511 9069731 Gain and loss Pancreatic cancer SNP array 17952125 NRIP3,SCUBE2 chr11 8998511 9069731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRIP3,SCUBE2 chr1 190053259 190053623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 9005496 9005588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRIP3 chr11 90072804 90072904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 190093125 190135097 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM5C chr1 190095692 190133875 Gain or loss Normal Birdsuite, version 1.5.2 22087296 FAM5C chr1 190095924 190096024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM5C chr1 190157257 190194693 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM5C chr1 190163376 190196902 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM5C chr11 90166412 90182642 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 90170628 90230922 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 190183068 190185176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM5C chr11 90203047 90309160 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MIR4490 chr11 90207722 90210721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 90207835 90210585 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 19021539 19021603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAX7 chr11 90241937 90242018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 19024407 19024893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAX7 chr11 902463 1759035 LOH Normal High-resolution SNP genotyping 21211785 AP2A2,BRSK2,CHID1,DUSP8,FAM99A,FAM99B,IFITM10,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,KRTAP5-6,LOC255512,LOC338651,MOB2,MUC2,MUC5B,MUC6,TOLLIP chr11 90247849 90559703 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4490 chr1 190273351 190274344 Gain and loss Pancreatic cancer SNP array 17952125 FAM5C chr1 190299165 247190770 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,B3GALT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CEP170,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DENND1B,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,FAIM3,FAM177B,FAM58BP,FAM5C,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GLRX2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC440704,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR1278,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPN3,OPTC,PARP1,PCNXL2,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TROVE2,TSNAX,TSNAX-DISC1,TTC13,UBE2T,UCHL5,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF238,ZNF281,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr11 90309378 90316877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 190339143 191503664 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM5C,LOC440704 chr1 190339143 192124823 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM5C,LOC440704 chr1 190357834 190365919 Loss Normal 244K array 17666407 FAM5C chr1 19038680 19058742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAX7 chr1 19038680 19058742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAX7 chr1 190394215 190421566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM5C chr1 190394215 190421566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM5C chr11 90424582 90559703 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 90430000 92100000 Loss Breast cancer aCGH 21509527 FAT3 chr1 190432645 190432771 Gain and loss Pancreatic cancer SNP array 17952125 FAM5C chr1 190433096 190433163 Gain and loss Pancreatic cancer SNP array 17952125 FAM5C chr1 190459972 190524857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 190465276 190465376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 190465372 190465587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 90476270 90476344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 190482472 190483240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 190483258 190483700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 190552745 190603038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440704 chr1 190570862 190570952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 190575482 190575824 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 90583857 90583957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 90589129 90620325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 90598229 90598329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1906011 1906541 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1751 chr1 190601931 190602031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC440704 chr11 90604802 90611826 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 90611826 90686781 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 90634258 113746962 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CLDN25,CNTN5,CRYAB,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLR4,FUT4,GPR83,GRIA4,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NCAM1,NPAT,PANX1,PDGFD,PGR,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRPC6,TTC12,USP28,VSTM5,WTAPP1,YAP1,ZC3H12C,ZW10 chr11 90658384 90668486 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 90686353 91023308 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr11 9069025 9070167 Loss Autism 1M Ailent CGH whole-genome array 21865298 SCUBE2 chr11 90697471 90697571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19070501 19156500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PAX7 chr1 19070513 19101659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAX7 chr1 19070513 19101659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAX7 chr11 9072486 9074313 Gain and loss Pancreatic cancer SNP array 17952125 SCUBE2 chr1 190726881 190726973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440704 chr11 9073185 9073903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCUBE2 chr11 90736134 113746962 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CLDN25,CNTN5,CRYAB,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLR4,FUT4,GPR83,GRIA4,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NCAM1,NPAT,PANX1,PDGFD,PGR,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRPC6,TTC12,USP28,VSTM5,WTAPP1,YAP1,ZC3H12C,ZW10 chr11 90761237 90761337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 9078739 9078839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE2 chr1 190800000 193800000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5 chr1 190800000 193800000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5 chr11 90801569 90802165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 190811480 190815782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 190811480 190815782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 190850979 190862100 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 190852920 190853479 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 190852920 190854486 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 190871869 190896013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 190871869 190896013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 190874248 190874460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 190874359 190874452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 190874449 190874709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 190876422 190876487 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 190889949 190891108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 1909001 1941000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA1751 chr1 190940606 191897513 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr1 19094779 19094879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 190951936 190952401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 190951936 190952401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 19096152 19096229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 90967163 91858879 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr11 90982366 90982435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19100000 23600000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,C1QA,C1QB,C1QC,C1orf151-NBL1,CAMK2N1,CAPZB,CDA,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EMC1,EPHA8,EPHB2,FAM43B,HP1BP3,HSPG2,HTR1D,HTR6,IFFO2,KDM1A,KIF17,LDLRAD2,LINC00339,LOC100506730,LOC100506801,LOC339505,LOC729059,LUZP1,MINOS1,MIR3115,MIR4253,MIR4684,MIR4695,MRTO4,MUL1,NBL1,NBPF3,OTUD3,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PQLC2,RAP1GAP,RNF186,SH2D5,TAS1R2,TMCO4,UBR4,UBXN10,USP48,VWA5B1,WNT4,ZBTB40 chr11 91010232 91011292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 191023336 191714767 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 191032286 191032958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 19103241 19103320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19103362 19154930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191036324 191036900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 9104373 9104553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE2 chr1 191044794 191048026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191044794 191048026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 9104533 9104685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE2 chr1 191045539 191776657 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 191061561 191061661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19110681 19140132 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 191111421 191111738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191127024 191128548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 91130601 96038800 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CEP57,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1304,MRE11A,MTMR2,MTNR1B,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 9116957 9243447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DENND5A,KRT8P41 chr11 9116957 9243447 Gain and loss Pancreatic cancer SNP array 17952125 DENND5A,KRT8P41 chr11 9116957 9243447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND5A,KRT8P41 chr11 911843 914353 Loss Normal 244K array 17666407 CHID1 chr1 191188890 191188992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 191196282 191263874 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 191229202 191230430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191237059 191260247 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 91240000 95940000 Deletion Ductal carcinoma SNP array 22052326 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CEP57,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1304,MRE11A,MTMR2,MTNR1B,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr1 191251512 191295751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191251512 191295751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191251521 191295812 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 191251521 191295812 Gain or loss Cancer - 20668451 NOT_FOUND chr1 191251521 191295812 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 191251521 191295812 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 191251521 191295812 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 191251521 191295812 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 19126770 19134071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 91268684 91268753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 19127564 19147914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 191295376 191327530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191295376 191327530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 91322543 91322800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 191328823 191328923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191332222 191341867 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 191332223 191341867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191332223 191341867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191357542 191487679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191357542 191487679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191357783 191486465 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 NOT_FOUND chr1 191357783 191487679 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr1 191357783 191487679 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 191357783 191487679 Gain or loss Cancer - 20668451 NOT_FOUND chr1 191357783 191487679 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 191357783 191487679 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 191357783 191487679 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 191357783 191487679 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 191357783 191487679 Loss Parathyroid adenoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr1 191360175 191360275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191372256 191372336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191383728 191383760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191414825 191422365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191414825 191422365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 91455249 91466057 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 19146632 19282048 Gain and loss Pancreatic cancer SNP array 17952125 ALDH4A1,IFFO2,MIR4695,TAS1R2 chr1 191477454 191477534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191497591 191498168 Loss Normal 244K array 17666407 NOT_FOUND chr1 191498552 191498652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191502054 191502280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 9152959 9153059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 91534326 91534707 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 91551392 91551481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19156501 19242000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH4A1,IFFO2,MIR4695,TAS1R2 chr11 91571476 91571561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191580317 191580401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191580625 191580777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 915841 1002240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP2A2 chr11 915841 1002240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP2A2 chr11 91585722 91585822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 1 915966 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C1orf170,DDX11L1,FAM138A,FAM138F,FAM41C,KLHL17,LINC00115,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC643837,LOC729737,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,SAMD11,WASH7P chr11 916022 1002239 Gain and loss Pancreatic cancer SNP array 17952125 AP2A2 chr11 91676806 91708872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 91680438 91711312 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 91691427 91706907 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 191693996 192124823 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 191709245 193200441 LOH Normal High-resolution SNP genotyping 21211785 B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5 chr11 91723388 92278645 Duplication small cell lung cancer array-CGH 20016488 FAT3 chr11 91724909 92269283 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAT3 chr11 91724910 92269284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAT3 chr11 91724910 92269284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAT3 chr11 91727999 91933271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 91728147 92276739 Substitutions and indels small cell lung cancer array-CGH 20016488 FAT3 chr11 91739682 91740064 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 91768875 91768975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191769649 192274418 LOH Normal High-resolution SNP genotyping 21211785 RGS18 chr11 91772342 91772477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 91803542 91805249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 191808536 191809688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 191814856 191849964 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 191817221 191817428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191817485 191817579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191835789 191835859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 91845398 98173692 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,MTNR1B,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 91870958 91871229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 91870987 91871757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 191876522 191876622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 91885646 91885949 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 91889402 91889849 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 191896151 191896251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191897513 192833019 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 RGS1,RGS13,RGS18,RGS2,RGS21 chr1 1919179 1952234 Gain and loss Pancreatic cancer SNP array 17952125 GABRD,KIAA1751 chr11 91943248 93669536 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C11orf54,C11orf75,CCDC67,FAT3,KIAA1731,MED17,MIR1304,MTNR1B,SCARNA9,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D,VSTM5 chr1 191954303 191954403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 91961451 91961808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 191967611 191967737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 191968062 191968129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 91979574 91979649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 191987584 192311869 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RGS18,RGS21 chr1 191989165 192009891 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 191992630 191993020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 92002665 92036447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 192026427 192026527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92055828 92055928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92066589 92066689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92094398 92094498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr1 192100000 197500000 Amplification Normal Refference 21823210 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,GLRX2,KCNT2,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr1 192100000 197500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,GLRX2,KCNT2,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr1 192100000 197500000 Copy number Breast cancer - 16272173 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,GLRX2,KCNT2,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr1 192100000 197500000 Copy number Normal - 20680643 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,GLRX2,KCNT2,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr1 192100000 197500000 Copy number Rett syndrome array CGH 21593744 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,GLRX2,KCNT2,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr1 192100000 197500000 Deletion Mental retardation \N 21062444 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,GLRX2,KCNT2,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr1 192100000 197500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,GLRX2,KCNT2,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr1 192100000 197500000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 ASPM,B3GALT2,CDC73,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,GLRX2,KCNT2,MIR1278,MIR4735,RGS1,RGS13,RGS18,RGS2,RGS21,TROVE2,UCHL5,ZBTB41 chr1 192100000 247249719 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,B3GALT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDC73,CDK18,CENPF,CEP170,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DENND1B,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,FAIM3,FAM177B,FAM58BP,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GLRX2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR1278,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPN3,OPTC,PARP1,PCNXL2,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS1,RGS13,RGS18,RGS2,RGS21,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TROVE2,TSNAX,TSNAX-DISC1,TTC13,UBE2T,UCHL5,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF238,ZNF281,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr11 92103764 92218633 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FAT3 chr1 1921292 1921392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1751 chr11 92146885 92207844 Gain and loss Pancreatic cancer SNP array 17952125 FAT3 chr1 192165789 193431207 LOH Normal High-resolution SNP genotyping 21211785 B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS2,RGS21,TROVE2,UCHL5 chr1 192176157 193839483 LOH Normal High-resolution SNP genotyping 21211785 B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS2,RGS21,TROVE2,UCHL5 chr1 192197416 192999889 LOH Normal High-resolution SNP genotyping 21211785 RGS1,RGS13,RGS2,RGS21,UCHL5 chr11 92206944 92432032 Amplification Breast cancer FISH 17142309 FAT3 chr1 192210358 192210448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92210461 92210555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr1 192212912 192213012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92213483 92265972 Gain and loss Pancreatic cancer SNP array 17952125 FAT3 chr1 192222565 192222665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92257991 92258091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr1 192263756 193480949 LOH Normal High-resolution SNP genotyping 21211785 B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS2,RGS21,TROVE2,UCHL5 chr1 192265661 192266599 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 192265695 192266759 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 192271559 192271873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 192274418 193999998 Copy number gain Normal High-resolution SNP genotyping 21211785 B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS2,RGS21,TROVE2,UCHL5 chr11 92275040 92308347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAT3 chr11 92281599 134452384 Substitutions and indels small cell lung cancer array-CGH 20016488 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 192286934 192591449 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RGS1,RGS21 chr1 192286934 194430252 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS2,RGS21,TROVE2,UCHL5 chr11 92287429 92289376 Gain and loss Pancreatic cancer SNP array 17952125 FAT3 chr11 92300000 101600000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMOTL1,ANKRD49,ARHGAP42,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CNTN5,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC101054525,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MIR3920,MRE11A,MTMR2,MTNR1B,PANX1,PGR,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TMEM133,TRPC6,VSTM5 chr11 92300000 130300000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FAT3,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,GPR83,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,MTNR1B,NCAM1,NFRKB,NLRX1,NNMT,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SORL1,SPA17,SRPR,SRSF8,ST14,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 92300000 96700000 Deletion Mental retardation \N 21062444 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,MTNR1B,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 92300000 96700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,MTNR1B,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 92300000 96700000 Gain Cancer - 21499728 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,MTNR1B,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 92300000 96700000 Gain Normal - 21541734 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,MTNR1B,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 92300000 96700000 Translocation Breast cancer transcriptome sequencing 19181860 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CWC15,ENDOD1,FAM76B,FAT3,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,MTNR1B,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 92322343 92322443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr1 192326703 192326865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGS21 chr1 192339001 192340500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 92342436 92355596 Gain or loss Breast cancer - 20668451 FAT3 chr11 92342436 92355596 Gain or loss Cancer - 20668451 FAT3 chr11 92342436 92355596 Gain or loss Lung cancer - 20668451 FAT3 chr11 92342436 92355596 Gain or loss Ovarian cancer - 20668451 FAT3 chr11 92342436 92355596 Gain or loss Pancreas cancer - 20668451 FAT3 chr11 92342436 92355596 Gain or loss Prostate cancer - 20668451 FAT3 chr11 92342437 92355596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAT3 chr11 92342437 92355596 Gain and loss Pancreatic cancer SNP array 17952125 FAT3 chr11 92342437 92355596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAT3 chr11 92344805 92346836 Gain Normal Birdsuite, version 1.5.2 22087296 FAT3 chr1 192347230 192347330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92357931 92378443 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAT3 chr11 92361014 92361154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr1 19242001 19274500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFFO2 chr1 19242423 19243743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IFFO2 chr1 192424720 192426095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 192458198 192458298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 192466008 192466064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 9246952 9291604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DENND5A chr11 92484257 92484357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr11 92493414 92520870 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAT3 chr11 92495775 92527541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAT3 chr11 92500786 112461898 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-702K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CNTN5,CRYAB,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FAT3,FDX1,FDXACB1,FOLR4,FUT4,GPR83,GRIA4,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,MTNR1B,NPAT,PANX1,PDGFD,PGR,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TEX12,TIMM8B,TMEM123,TMEM133,TRPC6,VSTM5,WTAPP1,YAP1,ZC3H12C chr11 92503872 92527304 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAT3 chr11 92507501 92517300 Deletion Glioma mate-paired sequence 20126413 FAT3 chr11 92509435 92515498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAT3 chr11 92515122 92515555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAT3 chr11 92518751 92518841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr11 92520500 92570743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAT3 chr11 92520500 92570743 Gain and loss Pancreatic cancer SNP array 17952125 FAT3 chr11 92520500 92570743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAT3 chr1 192535421 192851111 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RGS1,RGS13,RGS2 chr11 92537990 92554548 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAT3 chr11 92541902 92554548 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAT3 chr11 92553134 92553230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr11 92555483 92555571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr11 92558248 92576193 Loss Normal 244K array 17666407 FAT3 chr1 19256273 19256353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFFO2 chr11 9258780 9292872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DENND5A chr11 9258780 9292872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND5A chr11 9258781 9292759 Gain and loss Pancreatic cancer SNP array 17952125 DENND5A chr1 192597646 192597746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92606648 92625322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAT3 chr11 92607648 92612339 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAT3 chr11 92608253 92608492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr11 92608383 92608483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr11 92609473 92609562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT3 chr1 192615401 192619700 Deletion Glioma mate-paired sequence 20126413 RGS13 chr11 92615982 92616332 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 FAT3 chr1 192650123 192650223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92660785 92661933 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 92660786 92661805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 92663030 92668588 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr11 92668933 92702501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 92674059 92720161 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTNR1B chr11 9267707 9285445 Loss Normal 244K array 17666407 DENND5A chr1 19268066 19365294 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 IFFO2 chr11 92702804 92810533 Gain and loss Pancreatic cancer SNP array 17952125 MTNR1B chr11 92703531 92811282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTNR1B chr11 92703531 92811282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTNR1B chr1 19270660 19270760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFFO2 chr1 192717156 192721514 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 192717156 192721514 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 192718034 192723639 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr11 9271951 10903330 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADM,AMPD3,CTR9,DENND5A,EIF4G2,IPO7,LOC440028,LOC644656,LOC729013,LYVE1,MIR4485,MRVI1,MRVI1-AS1,MTRNR2L8,RNF141,SBF2,SBF2-AS1,SNORA23,SNORD97,SWAP70,TMEM41B,WEE1,ZBED5,ZNF143 chr1 192723856 192723958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 19273587 19409333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFFO2,UBR4 chr1 19273587 19409333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFFO2,UBR4 chr11 92742449 92742766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 192744168 192778710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGS2 chr11 92775584 92801252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 92780634 93373126 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C11orf75,CCDC67,SLC36A4 chr11 92780639 92780727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 92781869 92802118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 192784231 192784490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 92785359 92785459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 9278601 9282900 Deletion Glioma mate-paired sequence 20126413 DENND5A chr1 19278684 19278755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFFO2 chr11 92787011 92802873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 92787679 92811330 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 92800000 110400000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 AASDHPPT,ACAT1,ALKBH8,AMOTL1,ANGPTL5,ANKRD49,ARHGAP42,ATM,BIRC2,BIRC3,C11orf54,C11orf65,C11orf70,C11orf75,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CNTN5,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FDX1,FOLR4,FUT4,GPR83,GRIA4,GUCY1A2,HEPHL1,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,MED17,MIR1260B,MIR1304,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,NPAT,PANX1,PDGFD,PGR,PIWIL4,RAB39A,RDX,SCARNA9,SESN3,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TMEM123,TMEM133,TRPC6,VSTM5,WTAPP1,YAP1,ZC3H12C chr11 92800000 112500000 Loss Basal cell lymphoma References 16790693 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKRD49,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC67,CCDC82,CEP57,CNTN5,CRYAB,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FDX1,FDXACB1,FOLR4,FUT4,GPR83,GRIA4,GUCY1A2,HEPHL1,HSPB2,HSPB2-C11orf52,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100132078,LOC101054525,LOC643037,LOC643733,LOC643923,MAML2,MED17,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3920,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MRE11A,MSANTD4,MTMR2,NPAT,PANX1,PDGFD,PGR,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PTS,RAB39A,RDX,SCARNA9,SDHD,SESN3,SIK2,SLC35F2,SLC36A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TEX12,TIMM8B,TMEM123,TMEM133,TRPC6,VSTM5,WTAPP1,YAP1,ZC3H12C chr11 92800000 121200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf54,C11orf57,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC67,CCDC82,CCDC84,CD3D,CD3E,CD3G,CEP164,CEP57,CLDN25,CNTN5,CRYAB,CUL5,CWC15,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FDX1,FDXACB1,FOLR4,FOXR1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,GPR83,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPHL1,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MED17,MFRP,MIR1260B,MIR1304,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4693,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD4,MTMR2,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PANX1,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCARNA9,SCN2B,SCN4B,SDHD,SESN3,SIDT2,SIK2,SIK3,SLC35F2,SLC36A4,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM123,TMEM133,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,VSTM5,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 92800000 97200000 Loss Mantle cell lymphoma Array CGH 19029149 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CWC15,ENDOD1,FAM76B,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,PANX1,PIWIL4,SCARNA9,SESN3,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 9280217 9281226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DENND5A chr1 192821954 192838948 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 192833019 193928417 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 B3GALT2,CDC73,GLRX2,MIR1278,TROVE2,UCHL5 chr11 92851289 92916194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC36A4 chr11 92851289 92916194 Gain and loss Pancreatic cancer SNP array 17952125 SLC36A4 chr11 92851289 92916194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC36A4 chr11 92866911 94707627 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CWC15,FOLR4,FUT4,GPR83,HEPHL1,KDM4D,KIAA1731,LOC643037,MED17,MIR1304,MRE11A,PANX1,PIWIL4,SCARNA9,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D,VSTM5 chr1 19289891 19323352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 192926570 193309156 Gain and loss Pancreatic cancer SNP array 17952125 B3GALT2,CDC73,GLRX2,MIR1278,TROVE2,UCHL5 chr11 92929727 92930020 Gain and loss Pancreatic cancer SNP array 17952125 SLC36A4 chr11 92929727 92930020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC36A4 chr11 92935436 92935496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 92940000 97480000 Loss Breast cancer aCGH 21509527 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CWC15,ENDOD1,FAM76B,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,PANX1,PIWIL4,SCARNA9,SESN3,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 9294929 9295196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 92951776 99981946 Copy number Lung cancer paired-end sequencing 18438408 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC67,CCDC82,CEP57,CNTN5,CWC15,ENDOD1,FAM76B,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,PANX1,PIWIL4,SCARNA9,SESN3,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr1 192954548 192954989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 92982557 92983161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 92982557 92983161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 92982590 92983161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 92985186 93017124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 1 9300000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DDX11L1,DFFB,DNAJC11,DVL1,ENO1,ENO1-AS1,ERRFI1,ESPN,FAM132A,FAM138A,FAM138F,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LOC729737,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PARK7,PER3,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RERE,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UTS2,VAMP3,VWA1,WASH7P,WRAP73,ZBTB48 chr11 93034525 93103170 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93034525 93103170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93054470 93089858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC67 chr1 193065953 195287281 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B3GALT2,CDC73,GLRX2,MIR1278 chr11 93076633 93079708 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CCDC67 chr1 193077448 194738356 Copy number Lung cancer paired-end sequencing 18438408 B3GALT2,CDC73,MIR1278 chr11 93092417 93092527 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93092417 93092529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93092419 93092527 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93094356 93094435 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93094356 93094435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93094611 93094679 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93094611 93094680 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93094611 93094680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr1 193096833 193096933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC73 chr11 93103017 93114308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93103017 93114308 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93103017 93114308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93103327 93103460 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93103327 93103460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93103793 93103913 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93103793 93103913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93104316 93104388 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93104316 93104388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93104317 93104387 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93104818 93104947 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93104818 93104947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93105175 93105313 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93105175 93105313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93106042 93106114 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93106280 93106411 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93106280 93106411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93106488 93106578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93107924 93108050 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93107925 93108050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93114441 93135868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93114441 93135868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93114441 93135894 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr1 193128360 193128392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC73 chr11 93142082 134452384 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-667K arrays 21546498 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf54,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf75,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC67,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GPR83,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPHL1,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIAA1731,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MED17,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR1304,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCARNA9,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SNX19,SORL1,SPA17,SPATA19,SRPR,SRSF8,ST14,ST3GAL4,STT3A,TAF1D,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VSTM5,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 93145565 93145665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC67 chr11 93157053 93186144 Copy number Autism exome sequencing 22495311 CCDC67 chr11 93157053 93186144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93157053 93186144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93157096 93186102 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93167388 93167535 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93167388 93167586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr11 93167517 93167589 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93170027 93170125 Gain and loss Pancreatic cancer SNP array 17952125 CCDC67 chr11 93170027 93170125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC67 chr1 193173135 194158495 LOH Normal High-resolution SNP genotyping 21211785 CDC73 chr11 93191046 93223345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C11orf75 chr11 93191046 93223345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf75 chr11 93193383 93223316 Gain and loss Pancreatic cancer SNP array 17952125 C11orf75 chr11 93200436 93200546 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93200436 93200548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 193205357 193205438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC73 chr11 93214215 100132253 Loss Prostate cancer Array CGH 18632612 AMOTL1,ANKRD49,C11orf54,C11orf75,CCDC82,CEP57,CNTN5,CWC15,ENDOD1,FAM76B,FOLR4,FUT4,GPR83,HEPHL1,JRKL,JRKL-AS1,KDM4D,KDM4E,KIAA1731,LOC643037,MAML2,MED17,MIR1260B,MIR1304,MRE11A,MTMR2,PANX1,PIWIL4,SCARNA9,SESN3,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,SRSF8,TAF1D,VSTM5 chr11 93217653 93217858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C11orf75 chr1 19323605 19331064 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 193273442 193273536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 193280598 193285922 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 193280776 193280874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 93297209 93297274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 93304765 93337257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 193306715 193307165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 93309138 93357621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 193309820 193310128 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 193309820 193310180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 93311783 93347189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 193314169 193528753 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-299K arrays 21546498 NOT_FOUND chr11 93318877 93321068 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 193322494 193544439 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 193322494 193544439 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 93322977 93328203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 93323328 93325650 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr11 93331834 93344108 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 93331948 93344108 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 19333247 19333347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 93334869 93341732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 93337704 93341240 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 193352664 193448100 Truncation Prostate cancer Neighborhood Breakpoint Conservation 21510904 NOT_FOUND chr1 193352832 193448257 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9335581 10905621 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADM,AMPD3,CTR9,EIF4G2,IPO7,LOC440028,LOC644656,LOC729013,LYVE1,MIR4485,MRVI1,MRVI1-AS1,MTRNR2L8,RNF141,SBF2,SBF2-AS1,SNORA23,SNORD97,SWAP70,TMEM41B,WEE1,ZBED5,ZNF143 chr11 9335581 13472770 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADM,AMPD3,ARNTL,BTBD10,CSNK2A1P,CTR9,DKK3,EIF4G2,GALNTL4,IPO7,LOC100506305,LOC440028,LOC644656,LOC729013,LYVE1,MICAL2,MICALCL,MIR4299,MIR4485,MRVI1,MRVI1-AS1,MTRNR2L8,PARVA,RASSF10,RNF141,SBF2,SBF2-AS1,SNORA23,SNORD97,SWAP70,TEAD1,TMEM41B,USP47,WEE1,ZBED5,ZNF143 chr11 93358450 93358515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19338909 19345838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93394026 93487022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C11orf54,KIAA1731,MIR1304,SCARNA9,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D chr11 93394210 93486565 Gain and loss Pancreatic cancer SNP array 17952125 C11orf54,KIAA1731,MIR1304,SCARNA9,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D chr1 193416294 193416353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 193422742 193422842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 193424505 193544439 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 193424505 193544439 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 193424505 193686887 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 193424505 193686887 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 193424505 193693459 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 193424505 193693459 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 93431165 93431244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1731 chr1 193449132 193540473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 193451936 193545721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 193453298 193565687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 193453513 193546353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 193458106 193565156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 193462805 193618427 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr1 193470583 193554590 Loss or gain Normal 244K array 17666407 NOT_FOUND chr1 193475630 193494860 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 193496245 193652717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 93501742 93554778 Gain and loss Pancreatic cancer SNP array 17952125 MED17,VSTM5 chr11 93501742 93554781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED17,VSTM5 chr11 93501742 93554781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED17,VSTM5 chr11 93505547 94032848 LOH Normal High-resolution SNP genotyping 21211785 HEPHL1,MED17,PANX1,VSTM5 chr11 93519894 93519981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED17 chr1 193520544 193532967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 193520555 193532978 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 193520567 193660013 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 93524846 93524934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MED17 chr1 193528134 193686887 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 193528134 193693459 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 19354363 19360586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93550452 93550891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 193576964 193577064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 193588867 193619419 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93591370 93591449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 93615588 93718931 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr11 9362780 9423651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IPO7 chr11 9362780 9423651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO7 chr1 193644668 193659867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 19366448 19366816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 193675968 193683044 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 93676108 93676218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 193678365 193710463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93678445 93680506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 93678445 93680506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 93678451 93680497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 193681157 194389433 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 193696801 195973800 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 193709456 193901429 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 93713519 93714328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 193739978 193768023 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 193739978 193768023 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93740661 93972379 Amplification Breast cancer Illumina high-density SNP arrays 18852474 HEPHL1,PANX1 chr11 93750131 93774066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HEPHL1 chr11 93750131 93774066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEPHL1 chr11 93750131 93774066 Gain and loss Pancreatic cancer SNP array 17952125 HEPHL1 chr11 93750131 93774066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEPHL1 chr1 19375770 19383946 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 19376876 19376981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 19376876 19376982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 193785111 193847224 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 193785111 193847224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93790114 93866688 Gain or loss Breast cancer - 20668451 HEPHL1,PANX1 chr11 93790114 93866688 Gain or loss Cancer - 20668451 HEPHL1,PANX1 chr11 93790114 93866688 Gain or loss Lung cancer - 20668451 HEPHL1,PANX1 chr11 93790114 93866688 Gain or loss Ovarian cancer - 20668451 HEPHL1,PANX1 chr11 93790114 93866688 Gain or loss Pancreas cancer - 20668451 HEPHL1,PANX1 chr11 93790114 93866688 Gain or loss Prostate cancer - 20668451 HEPHL1,PANX1 chr11 93790123 93866688 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HEPHL1,PANX1 chr11 93790123 93866688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEPHL1,PANX1 chr11 93790123 93866688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEPHL1,PANX1 chr11 93790372 93866658 Gain and loss Pancreatic cancer SNP array 17952125 HEPHL1,PANX1 chr11 93796563 93796658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEPHL1 chr1 193800000 198700000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ASPM,ATP6V1G3,C1orf53,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,KCNT2,LHX9,MIR4735,NEK7,PTPRC,ZBTB41 chr1 193800000 243700000 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,AGT,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ASPM,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,BATF3,BPNT1,BROX,BTG2,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDK18,CENPF,CEP170,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNTN2,COG2,CR1,CR1L,CR2,CRB1,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DENND1B,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,F13B,FAIM3,FAM177B,FAM58BP,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC339535,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPN3,OPTC,PARP1,PCNXL2,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,UBE2T,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZBTB41,ZC3H11A,ZNF281,ZNF678,ZNF847P,ZP4 chr11 93800642 93825519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HEPHL1 chr11 93839309 93839394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEPHL1 chr1 19384126 19404227 Gain and loss Pancreatic cancer SNP array 17952125 UBR4 chr11 938421 938524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP2A2 chr11 93851527 93852450 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 193859229 193901308 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 193859229 193901308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 193863892 193863992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 93866801 93872385 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PANX1 chr11 93866801 93872385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PANX1 chr11 93866801 93872385 Gain and loss Pancreatic cancer SNP array 17952125 PANX1 chr11 93866801 93872385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PANX1 chr11 93871853 93872177 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PANX1 chr1 193879632 193879664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 93889813 131285355 Deletion Acute myeloid leukemia - 21251322 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,AMOTL1,ANGPTL5,ANKK1,ANKRD49,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWC15,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ENDOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOLR4,FOXR1,FOXRED1,FUT4,FXYD2,FXYD6,FXYD6-FXYD2,GPR83,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KDM4D,KDM4E,KIAA1377,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643037,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MRE11A,MSANTD2,MSANTD4,MTMR2,NCAM1,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX1,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PIWIL4,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SESN3,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SRPR,SRSF8,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 93911654 93913016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PANX1 chr11 93916775 93922712 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 93916775 93922712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 93916775 93922712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93916775 93922712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 9391796 9397985 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 193933390 193933470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 193934438 193934538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 93940162 93994234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 93940162 93994234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 93940162 93994234 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 93940162 93994234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 193952823 195088668 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 193969065 194179241 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 193969065 194179242 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr11 93997112 93997212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 94013926 94013964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19401446 19401533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBR4 chr11 94034164 94086725 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FOLR4 chr11 94037947 94051313 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FOLR4 chr11 94043023 94043123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 9406889 9407077 Gain and loss Pancreatic cancer SNP array 17952125 IPO7 chr11 9406896 9407077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO7 chr11 9406899 9407077 Gain and loss Pancreatic cancer SNP array 17952125 IPO7 chr1 1940703 1952050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GABRD chr1 1940703 1952050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABRD chr11 94072978 94073078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 94077583 94707627 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMOTL1,ANKRD49,CWC15,FUT4,GPR83,KDM4D,LOC643037,MRE11A,PIWIL4 chr1 194081358 194095122 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 194085066 194095122 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 1941001 2188500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf86,GABRD,PRKCZ,SKI chr11 94102432 94802092 LOH Normal High-resolution SNP genotyping 21211785 AMOTL1,ANKRD49,CWC15,FUT4,GPR83,KDM4D,KDM4E,LOC643037,MRE11A,PIWIL4,SRSF8 chr1 19410576 19557313 Gain and loss Pancreatic cancer SNP array 17952125 EMC1,UBR4 chr11 94133193 94162925 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR83,MRE11A chr11 94141156 94249566 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD49,LOC643037,MRE11A chr11 94141156 94249566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD49,LOC643037,MRE11A chr11 94141172 94251003 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD49,LOC643037,MRE11A chr11 94155322 94155422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRE11A chr1 19417172 19450633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 19417172 19450633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 194203120 194243054 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 194210431 194476094 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 19422397 19422492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBR4 chr1 194253042 194475981 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 194259619 194259719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 9427076 21567141 Copy number Lung cancer paired-end sequencing 18438408 ABCC8,ADM,AMPD3,ARNTL,BTBD10,C11orf58,CALCA,CALCB,COPB1,CSNK2A1P,CSRP3,CTR9,CYP2R1,DBX1,DKK3,E2F8,EIF4G2,FAR1,GALNTL4,GTF2H1,HPS5,HTATIP2,IGSF22,INSC,IPO7,KCNC1,KCNJ11,LDHA,LDHAL6A,LDHC,LOC100126784,LOC100506305,LOC440028,LOC494141,LOC644656,LOC729013,LYVE1,MICAL2,MICALCL,MIR4299,MIR4485,MIR4486,MIR4694,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRVI1,MRVI1-AS1,MTRNR2L8,MYOD1,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NELL1,NUCB2,OR7E14P,PARVA,PDE3B,PIK3C2A,PLEKHA7,PRMT3,PSMA1,PTH,PTPN5,RASSF10,RNF141,RPS13,RRAS2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SBF2-AS1,SERGEF,SLC6A5,SNORA23,SNORD97,SOX6,SPON1,SPTY2D1,SPTY2D1-AS1,SWAP70,TEAD1,TMEM86A,TPH1,TSG101,UEVLD,USH1C,USP47,WEE1,ZBED5,ZDHHC13,ZNF143 chr1 194277573 194277673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 94306466 116378519 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 AASDHPPT,ACAT1,ALG9,ALKBH8,AMOTL1,ANGPTL5,ANKK1,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC82,CEP57,CLDN25,CNTN5,CRYAB,CUL5,CWC15,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,ENDOD1,EXPH5,FAM76B,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KDM4D,KDM4E,KIAA1377,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC283143,LOC643733,LOC643923,MAML2,MIR1260B,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,MTMR2,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PDGFD,PGR,PIH1D2,PIWIL4,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SESN3,SIK2,SLC35F2,SLN,SRSF8,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRPC6,TTC12,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr1 194309849 194309932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 94317705 94317805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIWIL4 chr11 94333368 94378560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIWIL4 chr11 94335441 94346424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIWIL4 chr11 94335931 94346387 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIWIL4 chr11 94335939 94346364 Gain and loss Pancreatic cancer SNP array 17952125 PIWIL4 chr11 94346493 94372326 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIWIL4 chr11 94346493 94372326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIWIL4 chr11 94346493 94372326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIWIL4 chr11 94369941 94372330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 194386429 194386527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9438645 9506647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IPO7,LOC644656,SNORA23,ZNF143 chr11 9438645 9506647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO7,LOC644656,SNORA23,ZNF143 chr1 194389547 194391422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9439089 9506187 Gain and loss Pancreatic cancer SNP array 17952125 IPO7,LOC644656,SNORA23,ZNF143 chr11 94398668 94398668 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr1 194424670 194424946 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 194429981 195765358 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 94439757 94441931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 94440039 94440886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 194442614 195765358 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194457955 194458055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 194461536 194844122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 194461536 194844122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 94462665 94505463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMOTL1 chr11 94462665 94505463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMOTL1 chr11 94462671 94505455 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AMOTL1 chr11 94462671 94505455 Gain and loss Pancreatic cancer SNP array 17952125 AMOTL1 chr11 94479564 94479664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 944928 948292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr1 1 94500000 Deletion Medulloblastoma SNP arrays 21979893 AADACL3,AADACL4,ABCA4,ACADM,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DCDC2B,DDAH1,DDI2,DDOST,DDX11L1,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DR1,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ37453,FLJ42875,FNBP1L,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100129046,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LPAR3,LPHN2,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AP,MIR551A,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,ODF2L,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,ROR1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SAMD13,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC35E2,SLC35E2B,SLC44A5,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYDE2,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR63,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 19450501 19553000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMC1,UBR4 chr1 19450662 19459209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 19450662 19459209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 194528661 194528693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 94545781 94603894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AMOTL1 chr11 94545781 94603894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMOTL1 chr11 94545781 94603894 Gain and loss Pancreatic cancer SNP array 17952125 AMOTL1 chr11 94545781 94603894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMOTL1 chr11 94553858 94578432 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AMOTL1 chr11 9457471 9471326 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IPO7 chr11 94578181 94578225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMOTL1 chr1 194598230 195114869 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194601217 194608154 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 194613176 195287281 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 194613319 194630930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 194618174 194630930 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 19465065 19473155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 19465065 19473155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 19467379 19467447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBR4 chr1 194674933 194675140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 194675131 194675289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 94677782 94677882 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 9468143 9499693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IPO7,LOC644656,ZNF143 chr11 94684376 94684515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 94697303 94699870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CWC15 chr1 19471375 19485984 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 UBR4 chr1 194718476 196329412 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 KCNT2 chr1 194720639 194720739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19472219 19487114 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 UBR4 chr11 94747127 94747227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 194754404 195220044 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 19476604 19481180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UBR4 chr11 94775404 94775489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 94779933 95474179 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ENDOD1,SESN3,SRSF8 chr11 94779933 99681032 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC82,CEP57,CNTN5,ENDOD1,FAM76B,JRKL,JRKL-AS1,MAML2,MIR1260B,MTMR2,SESN3,SRSF8 chr11 94803671 94823311 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENDOD1,SRSF8 chr11 9480501 9485100 Deletion Glioma mate-paired sequence 20126413 LOC644656,ZNF143 chr11 94809018 94815069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 19481644 19487867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 19481644 19487867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr11 94829347 94860370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENDOD1 chr1 194837500 196143033 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 94846084 94846186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENDOD1 chr11 94846086 94846186 Gain and loss Pancreatic cancer SNP array 17952125 ENDOD1 chr11 94846087 94846186 Gain and loss Pancreatic cancer SNP array 17952125 ENDOD1 chr1 194869308 194870660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 94887452 94887552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 194887630 194983257 Deletion Normal BAC aCGH 22315515 NOT_FOUND chr1 194887764 194983255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 194887764 194983255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 194888508 194889123 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr11 94896842 94896946 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 94896842 94896946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 94896858 94896946 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 194912884 194916735 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 9491705 9491805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF143 chr1 194933334 195020426 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 194933336 195020426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 194948969 194972895 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 94951541 94951641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SESN3 chr1 194954782 194971879 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 19496184 19496399 Gain and loss Pancreatic cancer SNP array 17952125 UBR4 chr1 194963360 194981496 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 194970000 195150000 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr1 194971620 194972143 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 194971620 195079141 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 194975094 195095411 Copy number Maculopathy TaqMan real-time PCR 22355348 NOT_FOUND chr1 194975846 195079141 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 194976941 195091905 Gain or loss Normal aCGH 21627829 NOT_FOUND chr1 194977370 195180249 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr1 194977690 195068683 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 194977690 195079141 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 194977690 195079141 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 194977690 195149019 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 194977713 195129718 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr1 194977810 195068695 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194977810 195112291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194978430 195090377 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 194978578 195093170 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 194979133 195123904 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 194979133 195193641 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 194979133 195229956 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 194981485 195068682 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 194981485 195083340 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 194983118 195078925 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 194983851 195088668 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194983851 195088668 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr11 94984861 94984961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 194985003 195089462 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 194987064 195065060 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194987064 195088668 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194987064 195088668 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194987064 195173863 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194987064 195173863 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194987064 195186496 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 194993223 195074031 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr1 194993359 195068330 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 NOT_FOUND chr1 194994473 194997657 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 194994473 194998709 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 194994473 195068695 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194994473 195082414 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194994473 195090339 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194994473 195108465 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194994473 195110334 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194994473 195110790 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194994473 195110958 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194994473 195112291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194994473 195148223 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194997658 195005246 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 194997658 195010823 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 194997658 195068610 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 194997658 195068695 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 195000110 195066314 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195000110 195088668 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195000110 195090079 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195000110 195199864 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195003979 195016283 Gain Normal aCGH 21627829 NOT_FOUND chr1 195005234 195015828 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195016432 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195016472 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195050237 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195066116 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195068053 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195068266 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195068461 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195068613 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195068683 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195068683 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195079141 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195083341 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195083341 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195005234 195110459 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 195005246 195010823 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195005246 195024743 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 195005246 195025911 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195005246 195110958 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 195005246 195112291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 195005259 195110334 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 195009358 195065925 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 195010552 195029496 Deletion Maculopathy multiplex ligation-dependent probe amplification assay 21850184 NOT_FOUND chr1 195010552 195029496 Deletion Normal BAC aCGH 22315515 NOT_FOUND chr1 195010553 195031160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195011030 195173863 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195011030 195173863 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195011344 195065867 Copy number Rett syndrome References 21593744 NOT_FOUND chr1 195011344 195065867 Duplication or deletion Rett syndrome References 21593744 NOT_FOUND chr1 195014914 195067942 Deletion Maculopathy multiplex ligation-dependent probe amplification assay 21850184 NOT_FOUND chr1 195015087 195153393 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr11 950197 957940 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr1 195023645 195025911 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195025911 195055609 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195026732 195048237 Gain Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr1 195026732 195104236 Gain Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr1 19503046 19511227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 19503046 19511227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 195034040 195047383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 195034155 195161328 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195034155 195161328 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 19504157 19504263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 1950431 195714208 Copy number Autism exome sequencing 22495311 AADACL3,AADACL4,ABCA4,ABCD3,ABL2,ACADM,ACBD6,ACOT11,ACOT7,ACP6,ACTG1P4,ACTL8,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARNT,ARPC5,ARTN,ASAP3,ASB17,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AXDND1,B3GALT2,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf105,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf228,C1orf27,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACYBP,CADM3,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD52,CD53,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPL,CEP104,CEP350,CEP85,CEPT1,CERS2,CGN,CHD1L,CHD5,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,CPT2,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DUSP12,DUSP23,DUSP27,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDEM3,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,ETV3,ETV3L,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F3,F5,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM129A,FAM131C,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM5B,FAM5C,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GABRD,GADD45A,GALE,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLRX2,GLT25D2,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR153,GPR157,GPR161,GPR3,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES5,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IGSF8,IGSF9,IL12RB2,IL22RA1,IL23R,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,IVNS1ABP,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1614,KIAA2013,KIF17,KIF1B,KIF2C,KIFAP3,KIRREL,KLF17,KLHDC7A,KLHDC9,KLHL20,KLHL21,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX4,LHX8,LIN28A,LINC00272,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMO4,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100133445,LOC100133612,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC149086,LOC284551,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC400794,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC643355,LOC643441,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOC730102,LOC730159,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MGC27382,MGST3,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR199A2,MIR214,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR320B1,MIR34A,MIR3605,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4632,MIR4654,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR488,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MNDA,MOB3C,MORN1,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTX1,MUC1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOC,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARS2,PAX7,PBX1,PBXIP1,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFN1P2,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHO1,PLK3,PLOD1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRG4,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB42,RABGAP1L,RABGGTB,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCSD1,REG4,RER1,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF19B,RNF2,RNF207,RNF220,RNPC3,RNU11,RNU6-6,RNU6-72,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SIKE1,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC45A1,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SOAT1,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPSB1,SPTA1,SRG7,SRGAP2B,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAGLN2,TAL1,TARDBP,TARS2,TAS1R1,TAS1R2,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TIPRL,TM2D1,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM82,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI3K,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YRDC,YTHDF2,YY1AP1,ZBTB17,ZBTB37,ZBTB40,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 195046026 195048396 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 195050249 195066337 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195050249 195068695 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 950510 971120 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr11 95051778 95084417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 195055483 195067942 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 195055484 195067940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195055484 195067940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195055609 195056321 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195055612 195068683 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195056321 195065188 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195056892 195057666 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195056892 195068695 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 95062719 95062775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195065176 195091211 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195065188 195068695 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195066314 196137524 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195068695 195068696 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195068696 195079130 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195075495 195182248 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195075495 195182248 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195079130 195079153 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195079153 195083353 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195083353 195089939 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195088143 205083387 Substitutions and indels small cell lung cancer array-CGH 20016488 ADIPOR1,ADORA1,ARL8A,ASCL5,ASPM,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CHI3L1,CHIT1,CNTN2,CRB1,CSRP1,CYB5R1,DDX59,DENND1B,ELF3,ETNK2,F13B,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KCNT2,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR4735,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZBTB41,ZC3H11A,ZNF281 chr1 195088668 195156512 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195088668 195182248 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195088668 195182248 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195089653 195163711 Gain Asthma Illumina 550K SNP array 20841430 NOT_FOUND chr1 195089928 195159569 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195089939 195089940 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195089940 195168372 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195090079 196137524 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195105718 195114598 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195109794 195114598 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 19511327 19528380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 19511327 19528380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR4 chr1 195114034 195114598 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 95120082 95120170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 195123834 195154386 Copy number Maculopathy multiplex ligation-dependent probe amplification assay 21850184 NOT_FOUND chr1 195123835 195154386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195123835 195154386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195125528 196179631 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr1 195139902 195153393 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 95141765 95162429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95141765 95162429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95141765 95162602 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 195147464 195181215 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr1 195148012 195153393 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195148569 195183631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 195159457 195168376 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 95163289 95205502 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr11 95163290 95205498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 95163290 95205502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95163290 95205502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195168372 195168376 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195168376 195171782 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195171782 195176268 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195176268 195183422 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 195179556 195194979 Copy number Maculopathy multiplex ligation-dependent probe amplification assay 21850184 NOT_FOUND chr1 195179634 195194979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195179634 195194979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95180057 95180147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195190503 195202028 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195190503 195206342 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 95196679 95196920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 19519777 19520928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBR4 chr1 1951980 19582447 Copy number Autism exome sequencing 22495311 AADACL3,AADACL4,ACOT7,ACTL8,ACTRT2,AGMAT,AGTRAP,AJAP1,ALDH4A1,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ATP13A2,C1orf126,C1orf127,C1orf158,C1orf174,C1orf200,C1orf64,C1orf86,CA6,CAMTA1,CASP9,CASZ1,CCDC27,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,EFHD2,EMC1,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,ESPNP,EXOSC10,FAM131C,FAM213B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,FLJ42875,GABRD,GPR153,GPR157,H6PD,HES2,HES3,HES5,HNRNPCL1,HSPB7,ICMT,IFFO2,IGSF21,KAZN,KCNAB2,KIAA2013,KIF1B,KLHDC7A,KLHL21,LOC100129534,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC440563,LOC649330,LOC728716,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFAP2,MFN2,MIIP,MIR34A,MIR3675,MIR4251,MIR4252,MIR4417,MIR4632,MIR4689,MIR4695,MIR551A,MMEL1,MORN1,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,NBPF1,NECAP2,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,PADI1,PADI2,PADI3,PADI4,PADI6,PANK4,PARK7,PAX7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,RBP7,RCC2,RER1,RERE,RNF207,RPL22,RSC1A1,RSG1,SDHB,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SZRD1,TARDBP,TAS1R1,TAS1R2,THAP3,TMEM201,TMEM51,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,UBE4B,UBIAD1,UBR4,UQCRHL,UTS2,VAMP3,VPS13D,WRAP73,ZBTB17,ZBTB48 chr11 95201150 95201228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195203914 195219478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 195204270 195219646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 195205024 196100215 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195205293 195230265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 95205693 95297019 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 NOT_FOUND chr11 95205694 95296920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95205694 95296920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95205694 95297107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 195206011 195208978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 195206750 195215366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 195206909 195216851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 95207216 95207309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 95212828 95212937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95212849 95212935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 95212849 95212935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195213331 195245429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195213331 195245429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195213429 195216896 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195213429 195218897 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195213429 195222522 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195213429 195233476 Gain Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr11 95214154 95214224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195224011 195241732 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 195224011 195241732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 195226658 195243201 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195231508 195243201 Loss Maculopathy Birdsuite software version 1.5 22022419 NOT_FOUND chr1 195234652 195234730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195237106 195470888 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr11 95253214 95253314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195253751 195672280 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 NOT_FOUND chr1 195253939 196207324 LOH Normal High-resolution SNP genotyping 21211785 KCNT2 chr1 19525972 19526004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBR4 chr11 95263412 95263507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195274944 195303020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195274944 195303020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195277577 196137524 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 195319885 195382287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195319885 195382287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195319996 195382287 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 195319997 195382287 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr11 95334206 132200002 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AASDHPPT,ABCG4,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC82,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CEP57,CHEK1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FAM76B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,JRKL,JRKL-AS1,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIAA1377,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MAML2,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR1260B,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD2,MSANTD4,MTMR2,NCAM1,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 195339882 195457987 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 195339882 195457987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 195350540 195350640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 95351087 95715992 Gain or loss Breast cancer - 20668451 CEP57,FAM76B,MAML2,MTMR2 chr11 95351087 95715992 Gain or loss Cancer - 20668451 CEP57,FAM76B,MAML2,MTMR2 chr11 95351087 95715992 Gain or loss Lung cancer - 20668451 CEP57,FAM76B,MAML2,MTMR2 chr11 95351087 95715992 Gain or loss Ovarian cancer - 20668451 CEP57,FAM76B,MAML2,MTMR2 chr11 95351087 95715992 Gain or loss Pancreas cancer - 20668451 CEP57,FAM76B,MAML2,MTMR2 chr11 95351087 95715992 Gain or loss Prostate cancer - 20668451 CEP57,FAM76B,MAML2,MTMR2 chr11 95351088 95466332 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 95351088 95466334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95351088 95466334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95371340 95371585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195374501 195375060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95377241 95383061 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 19537857 19684594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKR7A2,AKR7A3,AKR7L,CAPZB,EMC1,LOC100506730,MRTO4,PQLC2 chr1 19537857 19684594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR7A2,AKR7A3,AKR7L,CAPZB,EMC1,LOC100506730,MRTO4,PQLC2 chr1 195389437 195436295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195389437 195436295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95399592 95764497 Amplification or deletion Cancer Array CGH 17440070 CEP57,FAM76B,MAML2,MTMR2 chr1 195436118 195436176 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr11 95441470 95441570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195457975 195459008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195457975 195459008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195470492 195487741 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 195487268 198489884 Copy number Lung cancer paired-end sequencing 18438408 ASPM,C1orf53,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,KCNT2,LHX9,MIR4735,NEK7,ZBTB41 chr11 9549215 9549315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF143 chr11 95497744 95497844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195504030 195714208 Amplification Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr1 195504031 195714207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195504031 195714207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 9550915 9567874 Gain or loss Breast cancer - 20668451 NOT_FOUND chr11 9550915 9567874 Gain or loss Cancer - 20668451 NOT_FOUND chr11 9550915 9567874 Gain or loss Lung cancer - 20668451 NOT_FOUND chr11 9550915 9567874 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr11 9550915 9567874 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr11 9550915 9567874 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr11 9550916 9567874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 9550916 9567874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 9552057 9566725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 19553001 19839500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKR7A2,AKR7A3,AKR7L,CAPZB,EMC1,LOC100506730,MRTO4,PQLC2 chr1 195532264 196020687 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 195532264 196020687 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 195535474 195536355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 195539720 195539820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195559659 195559768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 195559830 195559939 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9556154 9556252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9556154 9556252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195578831 197380804 LOH Normal High-resolution SNP genotyping 21211785 ASPM,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,F13B,KCNT2,MIR4735,ZBTB41 chr11 95586932 95676492 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MTMR2 chr11 9559029 9559339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 9559029 9559341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9559029 9559341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195599570 195599833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 9560998 9593944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 95620362 115742087 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-660K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,ANGPTL5,ANKK1,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC82,CLDN25,CNTN5,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC283143,LOC643733,LOC643923,MAML2,MIR1260B,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,MTMR2,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PDGFD,PGR,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRPC6,TTC12,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr11 95641573 95643042 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MTMR2 chr1 195649790 195650591 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 95671391 116463896 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-666K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,ANGPTL5,ANKK1,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC82,CLDN25,CNTN5,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,JRKL,JRKL-AS1,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC283143,LOC643733,LOC643923,MAML2,MIR1260B,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PDGFD,PGR,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRPC6,TTC12,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr1 195679327 197524502 LOH Normal High-resolution SNP genotyping 21211785 ASPM,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,KCNT2,MIR4735,ZBTB41 chr1 195689567 195689652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 95692082 95692126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195715155 196905060 Gain Neuroblastoma aCGH 20406844 CFH,CFHR1,CFHR3,CFHR4,KCNT2,MIR4735 chr11 95725576 95762731 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MAML2 chr11 95725589 95757574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAML2 chr11 95725589 95757574 Gain and loss Pancreatic cancer SNP array 17952125 MAML2 chr11 95725589 95757574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML2 chr11 95734385 95734445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAML2 chr1 195745397 196011060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195745397 196011060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 95762258 95762591 Gain and loss Pancreatic cancer SNP array 17952125 MAML2 chr11 95762258 95762591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML2 chr11 95762805 95766375 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MAML2 chr11 95762806 95765250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAML2 chr11 95762806 95765250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML2 chr11 95763461 95766375 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 MAML2 chr11 95763462 95766375 Gain and loss Pancreatic cancer SNP array 17952125 MAML2 chr1 195765301 195771800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 195767132 195769894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 195788008 196011078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195788008 196011078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 958001 1013500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP2A2,MUC6 chr11 95810000 96090000 Gain Breast cancer aCGH 21509527 CCDC82,MAML2,MIR1260B chr1 19582393 19582516 Gain and loss Pancreatic cancer SNP array 17952125 MRTO4 chr1 19582393 19582531 Gain and loss Pancreatic cancer SNP array 17952125 MRTO4 chr11 95847384 95847504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML2 chr11 95847397 95847503 Gain and loss Pancreatic cancer SNP array 17952125 MAML2 chr11 95847415 95847503 Gain and loss Pancreatic cancer SNP array 17952125 MAML2 chr11 95872768 95873079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAML2 chr11 95874831 95874906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAML2 chr11 95882837 95975947 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MAML2 chr1 195921393 195921493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195924513 195926388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195925973 195926073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 95929173 96716530 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 CCDC82,JRKL,JRKL-AS1,MAML2,MIR1260B chr1 195934850 195934988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 195954460 195957309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 195971389 195971862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195973801 197896600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASPM,C1orf53,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,KCNT2,LHX9,MIR4735,ZBTB41 chr1 195982502 195983204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 195985300 195985400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 95998332 95998496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAML2 chr1 196011705 196011737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 196017165 196017282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 196034501 196037500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 9603902 9634309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WEE1 chr1 19603970 19604074 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 96058000 105658000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ANGPTL5,ARHGAP42,BIRC2,BIRC3,C11orf70,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CCDC82,CNTN5,DCUN1D5,DDI1,DYNC2H1,GRIA4,JRKL,JRKL-AS1,KIAA1377,LOC101054525,LOC643733,MAML2,MIR1260B,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,PDGFD,PGR,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1 chr11 96087596 96087729 Copy number Normal Paralogue Ratio Test systems 17175532 CCDC82 chr1 196087926 196089074 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 196089982 196090082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 96119970 96120296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC82 chr1 196122729 196122829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 96135439 97752953 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 JRKL-AS1 chr1 196138399 196143120 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 196138400 196143110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 196138400 196143110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 196146501 196157500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 196148244 196168344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 196148244 196168344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 196160642 196160925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr11 96191471 96200804 Gain Normal Birdsuite, version 1.5.2 22087296 JRKL-AS1 chr11 96208462 96208562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JRKL-AS1 chr11 96227326 96227426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JRKL-AS1 chr1 19623465 19623680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 196243084 196243184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNT2 chr11 96248278 96258781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 196249610 196808112 LOH Normal High-resolution SNP genotyping 21211785 CFH,CFHR1,CFHR3,KCNT2,MIR4735 chr1 196256775 196256875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNT2 chr11 96268548 96268648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 196268601 196275300 Deletion Glioma mate-paired sequence 20126413 KCNT2 chr1 196281904 196281979 Gain and loss Pancreatic cancer SNP array 17952125 KCNT2 chr11 9628878 9628978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 196303101 199660932 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASPM,ATP6V1G3,C1orf53,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,DENND1B,F13B,KCNT2,LHX9,LOC100131234,MIR181A1,MIR181B1,MIR4735,NEK7,PTPRC,ZBTB41 chr11 96315312 96464735 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr1 19634015 19634179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKR7A2 chr11 96360360 127890393 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-707K arrays 21546498 AASDHPPT,ABCG4,ACAT1,ACRV1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SORL1,SPA17,SRPR,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 196361940 196362317 Gain Normal 244K array 17666407 KCNT2 chr1 196362289 196886345 LOH Normal High-resolution SNP genotyping 21211785 CFH,CFHR1,CFHR3,CFHR4,KCNT2,MIR4735 chr1 196384265 196492556 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 KCNT2 chr11 9638561 9639043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 96386431 97377420 Loss Urothelial carcinoma array CGH validated by FISH 21177765 NOT_FOUND chr1 196392744 196558173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNT2,MIR4735 chr1 196392744 196558173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNT2,MIR4735 chr1 196392816 196555392 Deletion Intellectual disability 100k SNP Array 21811512 KCNT2,MIR4735 chr11 96408179 96576298 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 96412977 123916297 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-677K arrays 21546498 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8D4,PAFAH1B2,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,SORL1,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM123,TMEM133,TMEM136,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 9642204 9731084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SWAP70 chr11 9642204 9731084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SWAP70 chr11 9642229 9731081 Gain and loss Pancreatic cancer SNP array 17952125 SWAP70 chr1 196430860 196430960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNT2 chr1 196433532 196433939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNT2 chr1 196433532 196433939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNT2 chr1 196497928 196497989 Loss Normal 244K array 17666407 KCNT2 chr11 965177 965832 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AP2A2 chr11 96530728 96698006 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr11 96538345 96538392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 196571235 196571368 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 KCNT2 chr1 196571277 196576901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNT2 chr1 196575075 196575175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNT2 chr1 196588944 196589043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 196588944 196589051 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9659047 9659289 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9659047 9659361 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9659047 9659367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 1 96591044 Loss Wilms tumour 250K Genotyping Arrays 21544195 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DCDC2B,DDAH1,DDI2,DDOST,DDX11L1,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DR1,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EYA3,F3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM138A,FAM138F,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100129046,LOC100129534,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LPAR3,LPHN2,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AP,MIR551A,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,ODF2L,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,OR4F5,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,ROR1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,RWDD3,S100PBP,SAMD11,SAMD13,SCARNA1,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SKI,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYDE2,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WASH7P,WDR63,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr11 96639751 96666511 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 96651877 96651977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 196680552 197252790 LOH Normal High-resolution SNP genotyping 21211785 ASPM,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,F13B,ZBTB41 chr1 196685609 196685709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CFH chr1 19668800 19682692 Gain and loss Pancreatic cancer SNP array 17952125 CAPZB chr11 96700000 101600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP42,CNTN5,LOC101054525,MIR3920,PGR,TMEM133,TRPC6 chr11 96700000 101600000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP42,CNTN5,LOC101054525,MIR3920,PGR,TMEM133,TRPC6 chr11 96700000 101600000 Deletion with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP42,CNTN5,LOC101054525,MIR3920,PGR,TMEM133,TRPC6 chr11 96700000 101600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP42,CNTN5,LOC101054525,MIR3920,PGR,TMEM133,TRPC6 chr11 96700000 110000000 Amplification Ovarian clear cell carcinoma FISH 19293255 AASDHPPT,ACAT1,ALKBH8,ANGPTL5,ARHGAP42,ATM,BIRC2,BIRC3,C11orf65,C11orf70,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,KIAA1377,LOC101054525,LOC643733,LOC643923,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PGR,RAB39A,SLC35F2,SLN,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1,ZC3H12C chr11 96700000 110000000 Gain Glioblastoma multiforme aCGH 21080181 AASDHPPT,ACAT1,ALKBH8,ANGPTL5,ARHGAP42,ATM,BIRC2,BIRC3,C11orf65,C11orf70,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,GRIA4,GUCY1A2,KBTBD3,KDELC2,KIAA1377,LOC101054525,LOC643733,LOC643923,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PGR,RAB39A,SLC35F2,SLN,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1,ZC3H12C chr11 96700000 120700000 Duplication Mental retardation References 19966786 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CNTN5,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4693,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,TAGLN,TEX12,THY1,TIMM8B,TMEM123,TMEM133,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 96700000 120700000 Gain Non-small cell lung cancer dChip 21829676 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CNTN5,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4693,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,TAGLN,TEX12,THY1,TIMM8B,TMEM123,TMEM133,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 96700000 123500000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,SORL1,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM123,TMEM133,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr1 196701608 196701708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CFH chr1 196704895 196721572 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CFH chr1 196709281 196709391 Gain and loss Pancreatic cancer SNP array 17952125 CFH chr1 196709290 196709381 Gain and loss Pancreatic cancer SNP array 17952125 CFH chr1 196715474 196715580 Gain and loss Pancreatic cancer SNP array 17952125 CFH chr1 196715475 196715580 Gain and loss Pancreatic cancer SNP array 17952125 CFH chr1 196728399 196728505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 196728427 196878205 Gain and loss Pancreatic cancer SNP array 17952125 CFHR1,CFHR3,CFHR4 chr1 196741465 196751803 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CFHR3 chr1 196754846 196754945 Gain and loss Pancreatic cancer SNP array 17952125 CFHR3 chr1 196758975 196776698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CFHR3 chr1 196758975 196776698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFHR3 chr11 96768872 96768917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 96783683 97323161 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 96811015 96811115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19683950 19684045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPZB chr1 196874424 196993168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CFHR2,CFHR4,CFHR5 chr1 196874424 196993168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFHR2,CFHR4,CFHR5 chr11 9688946 9827861 Copy number Lung cancer paired-end sequencing 18438408 LOC440028,SBF2,SBF2-AS1,SWAP70 chr11 96906119 99794679 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CNTN5 chr1 196914421 196915107 Gain and loss Pancreatic cancer SNP array 17952125 CFHR2 chr1 196914886 196915785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFHR2 chr11 96957131 96957231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 96965619 114380393 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-686K arrays 21546498 AASDHPPT,ACAT1,ALG9,ALKBH8,ANGPTL5,ANKK1,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CLDN25,CNTN5,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC643733,LOC643923,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NCAM1,NNMT,NPAT,PDGFD,PGR,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRPC6,TTC12,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr1 196969857 196970056 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CFHR5 chr1 196970764 196970985 Loss Autism 1M Ailent CGH whole-genome array 21865298 CFHR5 chr1 19698026 19707302 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 CAPZB chr1 197030015 197030607 Gain and loss Pancreatic cancer SNP array 17952125 F13B chr11 97033674 97033792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 97033674 97033792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 97033674 97033794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 97034320 97936127 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 197040309 197041904 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 197040373 197042037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 197040425 197041994 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr11 97055976 97057070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 197067383 197067451 Gain and loss Pancreatic cancer SNP array 17952125 ASPM chr11 97079553 97079653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 97082126 97082466 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 1970899 1970993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 197094625 197094734 Amplification Acute myeloid leukemia BAC aCGH 20962326 ASPM chr1 197094625 197094734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASPM chr1 197094796 197094905 Amplification Acute myeloid leukemia BAC aCGH 20962326 ASPM chr1 197094796 197094905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASPM chr1 19709674 19709814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPZB chr11 97105842 97105926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 197107087 197110823 Gain and loss Pancreatic cancer SNP array 17952125 ASPM chr1 19715032 19730251 Gain and loss Pancreatic cancer SNP array 17952125 CAPZB chr1 1971768 2106694 Gain or loss Breast cancer - 20668451 PRKCZ chr1 1971768 2106694 Gain or loss Cancer - 20668451 PRKCZ chr1 1971768 2106694 Gain or loss Lung cancer - 20668451 PRKCZ chr1 1971768 2106694 Gain or loss Ovarian cancer - 20668451 PRKCZ chr1 1971768 2106694 Gain or loss Pancreas cancer - 20668451 PRKCZ chr1 1971768 2106694 Gain or loss Prostate cancer - 20668451 PRKCZ chr1 1971769 2106692 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCZ chr1 1971769 2106692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCZ chr1 1971769 2106692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCZ chr1 197182433 197182533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRB1 chr1 197184893 197185579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRB1 chr1 197196474 197196540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRB1 chr11 97200000 102100000 Loss Mantle cell lymphoma Array CGH 19029149 ANGPTL5,ARHGAP42,C11orf70,CNTN5,KIAA1377,LOC101054525,MIR3920,PGR,TMEM133,TRPC6,YAP1 chr11 97200000 102900000 Loss and deletion Multiple myeloma Array CGH 16616336 ANGPTL5,ARHGAP42,BIRC2,BIRC3,C11orf70,CNTN5,KIAA1377,LOC101054525,MIR3920,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,PGR,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1 chr11 97200000 110400000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 AASDHPPT,ACAT1,ALKBH8,ANGPTL5,ARHGAP42,ATM,BIRC2,BIRC3,C11orf65,C11orf70,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,FDX1,GRIA4,GUCY1A2,KBTBD3,KDELC2,KIAA1377,LOC101054525,LOC643733,LOC643923,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PGR,RAB39A,RDX,SLC35F2,SLN,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1,ZC3H12C chr11 97200000 110400000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 AASDHPPT,ACAT1,ALKBH8,ANGPTL5,ARHGAP42,ATM,BIRC2,BIRC3,C11orf65,C11orf70,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,FDX1,GRIA4,GUCY1A2,KBTBD3,KDELC2,KIAA1377,LOC101054525,LOC643733,LOC643923,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PGR,RAB39A,RDX,SLC35F2,SLN,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1,ZC3H12C chr11 97200000 110400000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AASDHPPT,ACAT1,ALKBH8,ANGPTL5,ARHGAP42,ATM,BIRC2,BIRC3,C11orf65,C11orf70,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,FDX1,GRIA4,GUCY1A2,KBTBD3,KDELC2,KIAA1377,LOC101054525,LOC643733,LOC643923,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PGR,RAB39A,RDX,SLC35F2,SLN,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1,ZC3H12C chr11 97200000 110400000 Gain Basal cell lymphoma CGH 17170743 AASDHPPT,ACAT1,ALKBH8,ANGPTL5,ARHGAP42,ATM,BIRC2,BIRC3,C11orf65,C11orf70,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,FDX1,GRIA4,GUCY1A2,KBTBD3,KDELC2,KIAA1377,LOC101054525,LOC643733,LOC643923,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PGR,RAB39A,RDX,SLC35F2,SLN,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1,ZC3H12C chr11 97200000 110400000 Gain Follicular lymphoma CGH 17170743 AASDHPPT,ACAT1,ALKBH8,ANGPTL5,ARHGAP42,ATM,BIRC2,BIRC3,C11orf65,C11orf70,C11orf87,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DYNC2H1,ELMOD1,EXPH5,FDX1,GRIA4,GUCY1A2,KBTBD3,KDELC2,KIAA1377,LOC101054525,LOC643733,LOC643923,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NPAT,PDGFD,PGR,RAB39A,RDX,SLC35F2,SLN,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1,ZC3H12C chr11 97200000 121200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AASDHPPT,ABCG4,ACAT1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC153,CCDC84,CD3D,CD3E,CD3G,CEP164,CLDN25,CNTN5,CRYAB,CUL5,CWF19L2,CXCR5,DCUN1D5,DDI1,DDX10,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,FOXR1,FXYD2,FXYD6,FXYD6-FXYD2,GRIA4,GRIK4,GUCY1A2,H2AFX,HINFP,HMBS,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4693,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,OAF,PAFAH1B2,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,POU2AF1,POU2F3,PPP2R1B,PTS,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,RPL23AP64,RPS25,SC5DL,SCN2B,SCN4B,SDHD,SIDT2,SIK2,SIK3,SLC35F2,SLC37A4,SLN,TAGLN,TBCEL,TECTA,TEX12,THY1,TIMM8B,TMEM123,TMEM133,TMEM136,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBE4A,UPK2,USP2,USP28,VPS11,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF259,ZW10 chr11 97222049 97222123 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 97222049 97222123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 197254173 197319508 Gain and loss Pancreatic cancer SNP array 17952125 CRB1 chr1 197274194 198251428 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 C1orf53,CRB1,DENND1B,LHX9,NEK7 chr11 97289007 97289099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 97294136 97475260 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr11 97295630 97295730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19729786 19729870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPZB chr1 19731251 19731355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPZB chr11 97323161 97384869 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 197324700 197370783 Gain and loss Pancreatic cancer SNP array 17952125 CRB1 chr1 197325516 197787205 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CRB1,DENND1B chr1 197339333 197357972 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CRB1 chr11 97343216 97343316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 97350642 127743281 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-659K arrays 21546498 AASDHPPT,ABCG4,ACAT1,ACRV1,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP42,ARHGEF12,ATM,ATP5L,BACE1,BACE1-AS,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IL10RA,IL18,KBTBD3,KDELC2,KIAA1377,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NLRX1,NNMT,NPAT,NRGN,NXPE1,NXPE2,NXPE4,OAF,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SORL1,SPA17,SRPR,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VSIG2,VWA5A,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZNF202,ZNF259,ZW10 chr11 97353216 97353316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 97365360 97366046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 197370760 197370859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRB1 chr1 19737086 19751361 Gain and loss Pancreatic cancer SNP array 17952125 CAPZB chr1 197376671 197380428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRB1 chr1 197378049 197380463 Loss Normal Birdsuite, version 1.5.2 22087296 CRB1 chr1 197378133 197380848 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CRB1 chr11 97384869 97433009 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr11 97429396 116543936 Loss Urothelial carcinoma array CGH validated by FISH 21177765 AASDHPPT,ACAT1,ALG9,ALKBH8,ANGPTL5,ANKK1,ARHGAP20,ARHGAP42,ATM,BCO2,BIRC2,BIRC3,BTG4,C11orf1,C11orf34,C11orf52,C11orf53,C11orf57,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CLDN25,CNTN5,CRYAB,CUL5,CWF19L2,DCUN1D5,DDI1,DDX10,DIXDC1,DLAT,DRD2,DYNC2H1,ELMOD1,EXPH5,FDX1,FDXACB1,GRIA4,GUCY1A2,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,IL18,KBTBD3,KDELC2,KIAA1377,LAYN,LOC100132078,LOC100288346,LOC101054525,LOC283143,LOC643733,LOC643923,MIR34B,MIR34C,MIR3920,MIR4301,MIR4491,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,NCAM1,NNMT,NPAT,NXPE1,NXPE2,NXPE4,PDGFD,PGR,PIH1D2,POU2AF1,PPP2R1B,PTS,RAB39A,RBM7,RDX,REXO2,SDHD,SIK2,SLC35F2,SLN,TEX12,TIMM8B,TMEM123,TMEM133,TMPRSS5,TRPC6,TTC12,USP28,WTAPP1,YAP1,ZBTB16,ZC3H12C,ZW10 chr1 197440343 197561486 Gain and loss Pancreatic cancer SNP array 17952125 CRB1,DENND1B chr1 197440770 197440865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRB1 chr1 197500000 205300000 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Amplification Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Amplificationlication Glioblastoma multiforme Illumina HumanHap550 Genotyping BeadChip array 20472715 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Amplification Normal - 22101487 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Amplification Urothelial cell carcinoma FISH 18451213 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Gain Hepatocellular carcinoma CGH 22174799 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Gain Multiple myeloma CGH, FISH 16461302 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 205300000 Loss Urothelial cell carcinoma FISH 18451213 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,BTG2,C1orf106,C1orf53,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DENND1B,DSTYK,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LHX9,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NEK7,NFASC,NR5A2,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 197500000 212100000 Amplification Esophageal squamous carcinoma CGH 21637470 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,AVPR1B,BTG2,C1orf106,C1orf116,C1orf186,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM72A,FCAMR,FMOD,G0S2,GOLT1A,GPR25,GPR37L1,HHAT,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,IRF6,KCNH1,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00467,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR4260,MIR5191,MYBPH,MYOG,NAV1,NEK2,NEK7,NFASC,NR5A2,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU6-79,RPS10P7,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 197500000 212100000 Amplification Non-small cell lung cancer - 21385341 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,AVPR1B,BTG2,C1orf106,C1orf116,C1orf186,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM72A,FCAMR,FMOD,G0S2,GOLT1A,GPR25,GPR37L1,HHAT,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,IRF6,KCNH1,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00467,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR4260,MIR5191,MYBPH,MYOG,NAV1,NEK2,NEK7,NFASC,NR5A2,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU6-79,RPS10P7,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 197500000 212100000 Copy number Macular degeneration MLPA 22558131 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,ATP6V1G3,AVPR1B,BTG2,C1orf106,C1orf116,C1orf186,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM72A,FCAMR,FMOD,G0S2,GOLT1A,GPR25,GPR37L1,HHAT,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,IRF6,KCNH1,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00260,LINC00303,LINC00467,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR4260,MIR5191,MYBPH,MYOG,NAV1,NEK2,NEK7,NFASC,NR5A2,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU6-79,RPS10P7,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 197500000 222100000 Gain Multiple myeloma CGH, FISH 16461302 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,BATF3,BPNT1,BTG2,C1orf106,C1orf115,C1orf116,C1orf140,C1orf186,C1orf227,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CENPF,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DTL,DUSP10,DYRK3,EIF2D,ELF3,ELK4,EPRS,ESRRG,ETNK2,FAIM3,FAM58BP,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GOLT1A,GPATCH2,GPR25,GPR37L1,HHAT,HLX,HSD11B1,IARS2,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LPGAT1,LRRN2,LYPLAL1,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR4260,MIR5191,MIR664,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PTPN14,PTPN7,PTPRC,PTPRVP,RAB3GAP2,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RRP15,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC30A10,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA36B,SNORA77,SNRPE,SOX13,SPATA17,SRGAP2,SYT14,SYT2,TATDN3,TGFB2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,USH2A,VASH2,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 197500000 222100000 Microdeletion van der Woude syndrome - 20818247 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,BATF3,BPNT1,BTG2,C1orf106,C1orf115,C1orf116,C1orf140,C1orf186,C1orf227,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CENPF,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DTL,DUSP10,DYRK3,EIF2D,ELF3,ELK4,EPRS,ESRRG,ETNK2,FAIM3,FAM58BP,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GOLT1A,GPATCH2,GPR25,GPR37L1,HHAT,HLX,HSD11B1,IARS2,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LPGAT1,LRRN2,LYPLAL1,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR4260,MIR5191,MIR664,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PTPN14,PTPN7,PTPRC,PTPRVP,RAB3GAP2,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RRP15,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC30A10,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA36B,SNORA77,SNRPE,SOX13,SPATA17,SRGAP2,SYT14,SYT2,TATDN3,TGFB2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,USH2A,VASH2,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 197500000 222100000 Microdeletion van der Woude syndrome aCGH 22470819 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,BATF3,BPNT1,BTG2,C1orf106,C1orf115,C1orf116,C1orf140,C1orf186,C1orf227,C1orf53,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CENPF,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DENND1B,DIEXF,DSTYK,DTL,DUSP10,DYRK3,EIF2D,ELF3,ELK4,EPRS,ESRRG,ETNK2,FAIM3,FAM58BP,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GOLT1A,GPATCH2,GPR25,GPR37L1,HHAT,HLX,HSD11B1,IARS2,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LHX9,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LPGAT1,LRRN2,LYPLAL1,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR4260,MIR5191,MIR664,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PTPN14,PTPN7,PTPRC,PTPRVP,RAB3GAP2,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RRP15,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC30A10,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA36B,SNORA77,SNRPE,SOX13,SPATA17,SRGAP2,SYT14,SYT2,TATDN3,TGFB2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,USH2A,VASH2,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 197500000 241700000 Gain T-cell lymphomas 250k GeneChip SNP array 19863542 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,AGT,AIDA,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,BATF3,BPNT1,BROX,BTG2,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf31,C1orf35,C1orf53,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDK18,CENPF,CHI3L1,CHIT1,CHRM3,CNIH3,CNIH4,CNTN2,COG2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DENND1B,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXOC8,FAIM3,FAM177B,FAM58BP,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC339535,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LPGAT1,LRRN2,LYPLAL1,LYST,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPTC,PARP1,PCNXL2,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,UBE2T,URB2,USH2A,VASH2,WDR26,WNT3A,WNT9A,YOD1,ZBED6,ZC3H11A,ZNF281,ZNF678,ZNF847P,ZP4 chr11 9751211 9751533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SWAP70 chr1 197537993 197544128 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DENND1B chr1 19754036 19871716 Gain and loss Pancreatic cancer SNP array 17952125 CAPZB chr1 197550778 197550878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DENND1B chr1 197558830 197727389 Loss Normal 244K array 17666407 DENND1B chr11 9756790 10272296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440028,SBF2,SBF2-AS1,SWAP70 chr11 9756790 10272296 Gain and loss Pancreatic cancer SNP array 17952125 LOC440028,SBF2,SBF2-AS1,SWAP70 chr11 9756790 10272296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440028,SBF2,SBF2-AS1,SWAP70 chr1 197573823 197574908 Gain and loss Pancreatic cancer SNP array 17952125 DENND1B chr1 197592326 197616520 Gain and loss Pancreatic cancer SNP array 17952125 DENND1B chr1 197607613 197608037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND1B chr11 97617228 97617299 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 197622892 197624226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND1B chr1 197634134 197634232 Gain and loss Pancreatic cancer SNP array 17952125 DENND1B chr1 197634135 197634230 Gain and loss Pancreatic cancer SNP array 17952125 DENND1B chr1 197670177 197691744 Gain and loss Pancreatic cancer SNP array 17952125 DENND1B chr1 197701180 197724168 Gain and loss Pancreatic cancer SNP array 17952125 DENND1B chr1 197703301 197708700 Deletion Glioma mate-paired sequence 20126413 DENND1B chr1 197705350 197706856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DENND1B chr1 197726167 197752578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DENND1B chr1 197740299 197813351 Gain and loss Pancreatic cancer SNP array 17952125 DENND1B chr11 97753415 97753808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 197815537 197816301 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 197816870 197816945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 197830639 197833264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 197835557 197872359 Gain and loss Pancreatic cancer SNP array 17952125 C1orf53 chr1 197849791 197865406 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 197849791 197865680 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 197850105 197865406 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 97862195 97862285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 197896601 198377300 Copy number Normal ReadDepth: A Parallel R Package 21305028 LHX9,NEK7 chr11 97900521 97900620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 97912117 98692862 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 197913427 197929736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 97934112 97934190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 97940965 97942752 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 197951124 198043915 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 197951124 198043915 Gain or loss Cancer - 20668451 NOT_FOUND chr1 197951124 198043915 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 197951124 198043915 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 197951124 198043915 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 197951124 198043915 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 197958234 197958324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19796054 19839759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPZB chr1 19796054 19839759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPZB chr1 197965962 197966047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 197975322 197975416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 97978867 97981678 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 197982043 197982112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 197984237 198031073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 197988242 197988641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 98000196 98021926 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 198011659 198011759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 98013611 98013711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198049104 198059262 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 198051137 198051216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198053826 198053926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198059799 198074039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 198066664 198066764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 19807195 19807649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPZB chr1 198081625 198100326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 98082372 98082450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 98095585 98095685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198105284 198133033 Gain and loss Pancreatic cancer SNP array 17952125 NEK7 chr1 198112729 198113309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198115341 198149856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEK7 chr1 198123910 198124012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198144672 198145399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK7 chr1 198166282 198169956 Gain and loss Pancreatic cancer SNP array 17952125 NEK7 chr1 198184317 198207907 Gain and loss Pancreatic cancer SNP array 17952125 NEK7 chr11 98207847 102241629 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ANGPTL5,ARHGAP42,BIRC2,BIRC3,C11orf70,CNTN5,KIAA1377,LOC101054525,MIR3920,PGR,TMEM133,TRPC6,YAP1 chr11 9821938 9821998 Gain and loss Pancreatic cancer SNP array 17952125 SBF2,SBF2-AS1 chr1 198220757 198221375 Gain and loss Pancreatic cancer SNP array 17952125 NEK7 chr1 198221297 245353397 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ATF3,ATP2B4,ATP6V1G3,AURKAPS1,AVPR1B,B3GALNT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf31,C1orf35,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDK18,CENPF,CEP170,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNTN2,COG2,COX20,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,FAIM3,FAM177B,FAM58BP,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149373,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NEK7,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPN3,OPTC,PARP1,PCNXL2,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,UBE2T,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZC3H11A,ZNF238,ZNF281,ZNF678,ZNF847P,ZP4 chr11 982365 1053559 Gain Stenocardia MACArray Karyo 52K BAC-chips 21860640 AP2A2,MUC6 chr11 982365 1053559 Gain Vasospasm MACArray Karyo 52K BAC-chips 21860640 AP2A2,MUC6 chr11 98239145 98239320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198239665 198272516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEK7 chr1 198244256 198244361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK7 chr1 198249827 198300273 Gain Normal 244K array 17666407 NEK7 chr1 198250440 198250546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK7 chr1 198261011 198261111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK7 chr1 198263393 198413171 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NEK7 chr1 198263393 198413171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEK7 chr1 198263393 198413171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK7 chr1 198268749 199660932 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP6V1G3,LOC100131234,MIR181A1,MIR181B1,NEK7,PTPRC chr11 98271464 98312871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 198289812 198289911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK7 chr1 1983005 1994352 Gain and loss Pancreatic cancer SNP array 17952125 PRKCZ chr1 198304656 198310281 Deletion Cancer CGH 22183965 NOT_FOUND chr1 198304656 198310281 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 NOT_FOUND chr1 198330705 198330799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198349107 198526112 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1G3 chr1 198377301 198630300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V1G3,PTPRC chr1 198380585 198380686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198383282 198384030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 19839501 19895500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 198396889 198396989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 98397080 99732683 Amplification Intellectual disability 100k SNP Array 21811512 CNTN5 chr11 98399232 100091099 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CNTN5 chr11 98402499 98435682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 98412813 98476682 Gain Autism qPCR 20531469 NOT_FOUND chr1 19842313 19857532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 19842313 19857532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 98423215 98564461 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 198431042 198432916 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 198434191 198434288 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 198434191 198434290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 9843558 48287121 Copy number Lung cancer paired-end sequencing 18438408 ABCC8,ABTB2,ACCS,ACCSL,ACP2,ADM,AGBL2,ALKBH3,ALX4,AMBRA1,AMPD3,ANO3,ANO5,API5,APIP,ARFGAP2,ARHGAP1,ARL14EP,ARNTL,ATG13,BBOX1,BDNF,BDNF-AS,BTBD10,C11orf49,C11orf58,C11orf74,C11orf91,C11orf94,C11orf96,C1QTNF4,CALCA,CALCB,CAPRIN1,CAT,CCDC34,CCDC73,CD44,CD59,CD82,CELF1,CHRM4,CHST1,CKAP5,COMMD9,COPB1,CREB3L1,CRY2,CSNK2A1P,CSRP3,CSTF3,CTR9,CYP2R1,DBX1,DCDC1,DCDC5,DDB2,DEPDC7,DGKZ,DKFZp686K1684,DKFZp779M0652,DKK3,DNAJC24,E2F8,EHF,EIF3M,EIF4G2,ELF5,ELP4,EXT2,F2,FAM180B,FANCF,FAR1,FBXO3,FIBIN,FJX1,FNBP4,FSHB,GALNTL4,GAS2,GTF2H1,GYLTL1B,HARBI1,HIPK3,HNRNPKP3,HPS5,HSD17B12,HTATIP2,IGSF22,IMMP1L,INSC,KBTBD4,KCNA4,KCNC1,KCNJ11,KIAA1549L,KIF18A,LDHA,LDHAL6A,LDHC,LDLRAD3,LGR4,LIN7C,LINC00294,LMO2,LOC100126784,LOC100500938,LOC100506305,LOC100507205,LOC100507300,LOC100507384,LOC221122,LOC338739,LOC494141,LOC729013,LRP4,LRP4-AS1,LRRC4C,LUZP2,LYVE1,MADD,MAPK8IP1,MDK,METTL15,MICAL2,MICALCL,MIR129-2,MIR1343,MIR3160-1,MIR3160-2,MIR3973,MIR4299,MIR4485,MIR4486,MIR4688,MIR4694,MIR5582,MIR610,MIR670,MPPED2,MRGPRX1,MRGPRX2,MRGPRX3,MRGPRX4,MRVI1,MRVI1-AS1,MTCH2,MTRNR2L8,MUC15,MYBPC3,MYOD1,NAT10,NAV2,NAV2-AS4,NAV2-AS5,NCR3LG1,NDUFS3,NELL1,NR1H3,NUCB2,NUP160,OR4B1,OR4X1,OR4X2,OR7E14P,PACSIN3,PAMR1,PARVA,PAX6,PDE3B,PDHX,PEX16,PHF21A,PIK3C2A,PLEKHA7,PRDM11,PRMT3,PRR5L,PRRG4,PSMA1,PSMC3,PTH,PTPMT1,PTPN5,PTPRJ,QSER1,RAG1,RAG2,RAPSN,RASSF10,RCN1,RNF141,RPS13,RRAS2,SAA1,SAA2,SAA2-SAA4,SAA3P,SAA4,SAAL1,SBF2,SEC14L1P1,SERGEF,SLC17A6,SLC1A2,SLC35C1,SLC39A13,SLC5A12,SLC6A5,SNORD67,SNORD97,SOX6,SPI1,SPON1,SPTY2D1,SPTY2D1-AS1,SVIP,SYT13,TCP11L1,TEAD1,TMEM86A,TP53I11,TPH1,TRAF6,TRIM44,TSG101,TSPAN18,TTC17,UEVLD,USH1C,USP47,WT1,WT1-AS,ZBED5,ZDHHC13,ZNF408 chr1 198449279 198450266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198449279 198450266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198450316 198467574 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr11 98457472 106658714 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AASDHPPT,ANGPTL5,ARHGAP42,BIRC2,BIRC3,C11orf70,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,DCUN1D5,DDI1,DYNC2H1,GRIA4,GUCY1A2,KBTBD3,KIAA1377,LOC101054525,LOC643733,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,PDGFD,PGR,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1 chr11 98496116 98496430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 98496128 98496365 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 98496128 98496365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198505074 198909148 Copy number Lung cancer paired-end sequencing 18438408 ATP6V1G3,LOC100131234,MIR181A1,MIR181B1,PTPRC chr11 98512312 98512400 Gain Normal 244K array 17666407 NOT_FOUND chr11 98515776 98519388 Loss Normal 244K array 17666407 NOT_FOUND chr1 198522423 198522508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198529995 198576839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 198564612 198565431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198572850 198572950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 98575697 98717492 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 198578295 198610105 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PTPRC chr1 198578295 198610105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRC chr1 198586920 198647255 Gain and loss Pancreatic cancer SNP array 17952125 PTPRC chr1 198589685 198593083 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 198600100 211134100 Gain Prostate cancer Array CGH 18632612 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,AVPR1B,BTG2,C1orf106,C1orf116,C1orf186,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DIEXF,DSTYK,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM72A,FCAMR,FMOD,G0S2,GOLT1A,GPR25,GPR37L1,HHAT,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,IRF6,KCNH1,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR4260,MIR5191,MYBPH,MYOG,NAV1,NFASC,NR5A2,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,UBE2T,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 198602349 198602417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198618753 198629867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRC chr11 986222 1009734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr1 198630301 199111000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131234,MIR181A1,MIR181B1,PTPRC chr1 198642042 198645789 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PTPRC chr1 198642053 198645789 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PTPRC chr1 198642053 198645789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRC chr1 198642053 198645789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRC chr1 19864367 19878642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 19864367 19878642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198650252 200971092 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 C1orf106,C1orf98,CAMSAP2,DDX59,FAM58BP,GPR25,KIF14,KIF21B,LOC100131234,MIR181A1,MIR181B1,NR5A2,PTPRC,ZNF281 chr1 198656305 198671444 Gain and loss Pancreatic cancer SNP array 17952125 PTPRC chr1 198663727 198663827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRC chr11 98675576 98675676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198679246 198679380 Gain and loss Pancreatic cancer SNP array 17952125 PTPRC chr1 198679430 198679630 Gain and loss Pancreatic cancer SNP array 17952125 PTPRC chr11 98679609 98679709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 98679893 99929025 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CNTN5 chr1 198683423 198706931 Gain and loss Pancreatic cancer SNP array 17952125 PTPRC chr1 198700000 207200000 Copy number Effusion lymphoma Real-time QPCR 18079361 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,AVPR1B,BTG2,C1orf106,C1orf116,C1orf186,C1orf98,CACNA1S,CAMSAP2,CDK18,CHI3L1,CHIT1,CNTN2,CSRP1,CTSE,CYB5R1,DDX59,DSTYK,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM72A,FCAMR,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAX1,LEMD1,LEMD1-AS1,LGR6,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NFASC,NR5A2,NUAK2,NUCKS1,OPTC,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SLC26A9,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 198700000 207200000 Gain Prostate cancer Array CGH 16573809 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,AVPR1B,BTG2,C1orf106,C1orf116,C1orf186,C1orf98,CACNA1S,CAMSAP2,CDK18,CHI3L1,CHIT1,CNTN2,CSRP1,CTSE,CYB5R1,DDX59,DSTYK,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM72A,FCAMR,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAX1,LEMD1,LEMD1-AS1,LGR6,LINC00260,LINC00303,LINC00628,LMOD1,LOC100131234,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NFASC,NR5A2,NUAK2,NUCKS1,OPTC,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SLC26A9,SLC41A1,SLC45A3,SNORA77,SNRPE,SOX13,SRGAP2,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 198700000 214500000 Amplification Hepatocellular carcinoma Array CGH 16750200 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ATF3,ATP2B4,AVPR1B,BATF3,BTG2,C1orf106,C1orf116,C1orf186,C1orf227,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DIEXF,DSTYK,DTL,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GOLT1A,GPR25,GPR37L1,HHAT,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR3122,MIR4260,MIR5191,MYBPH,MYOG,NAV1,NEK2,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU6-79,RPS10P7,RPS6KC1,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TATDN3,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,VASH2,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 198700000 214500000 Deletion Atypical hemolytic uremic syndrome PCR 19861685 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ATF3,ATP2B4,AVPR1B,BATF3,BTG2,C1orf106,C1orf116,C1orf186,C1orf227,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DIEXF,DSTYK,DTL,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GOLT1A,GPR25,GPR37L1,HHAT,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR3122,MIR4260,MIR5191,MYBPH,MYOG,NAV1,NEK2,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU6-79,RPS10P7,RPS6KC1,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TATDN3,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,VASH2,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 198700000 214500000 Gain Cancer Array CGH 17060936 ADIPOR1,ADORA1,ANGEL2,ARL8A,ASCL5,ATF3,ATP2B4,AVPR1B,BATF3,BTG2,C1orf106,C1orf116,C1orf186,C1orf227,C1orf74,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CD34,CD46,CD55,CDK18,CHI3L1,CHIT1,CNTN2,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DIEXF,DSTYK,DTL,DYRK3,EIF2D,ELF3,ELK4,ETNK2,FAIM3,FAM58BP,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,FMOD,G0S2,GOLT1A,GPR25,GPR37L1,HHAT,HSD11B1,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF6,KCNH1,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAMB3,LAX1,LEMD1,LEMD1-AS1,LGR6,LINC00260,LINC00303,LINC00467,LINC00538,LINC00628,LMOD1,LOC100131234,LOC148696,LOC148709,LOC284578,LOC284581,LOC401980,LOC641515,LOC730227,LPGAT1,LRRN2,MAPKAPK2,MDM4,MFSD4,MIR1231,MIR135B,MIR181A1,MIR181B1,MIR205,MIR205HG,MIR29B2,MIR29C,MIR3122,MIR4260,MIR5191,MYBPH,MYOG,NAV1,NEK2,NENF,NFASC,NR5A2,NSL1,NUAK2,NUCKS1,OPTC,PFKFB2,PHLDA3,PIGR,PIK3C2B,PKP1,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PTPN7,PTPRC,PTPRVP,RAB7L1,RABIF,RASSF5,RBBP5,RCOR3,RD3,REN,RNPEP,RNU6-79,RPS10P7,RPS6KC1,SERTAD4,SERTAD4-AS1,SHISA4,SLC26A9,SLC30A1,SLC41A1,SLC45A3,SMYD2,SNORA16B,SNORA77,SNRPE,SOX13,SRGAP2,SYT14,SYT2,TATDN3,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM81,TMEM9,TNNI1,TNNT2,TRAF3IP3,TRAF5,UBE2T,VASH2,YOD1,ZBED6,ZC3H11A,ZNF281 chr1 198700000 249250621 Copy number Urothelial tumor Illumina Infinium II 300k version 1 and 2370k and 550k BeadChips 18831757 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ATF3,ATP2B4,AURKAPS1,AVPR1B,B3GALNT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf229,C1orf31,C1orf35,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDK18,CENPF,CEP170,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,FAIM3,FAM177B,FAM58BP,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GCSAML,GCSAML-AS1,GGPS1,GJC2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPD8,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3916,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NENF,NFASC,NID1,NLRP3,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPN3,OPTC,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PARP1,PCNXL2,PFKFB2,PGBD2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SH3BP5L,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM58,TRIM67,TSNAX,TSNAX-DISC1,TTC13,UBE2T,URB2,USH2A,VASH2,VN1R5,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr1 198700000 249250621 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ATF3,ATP2B4,AURKAPS1,AVPR1B,B3GALNT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf229,C1orf31,C1orf35,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDK18,CENPF,CEP170,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,FAIM3,FAM177B,FAM58BP,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GCSAML,GCSAML-AS1,GGPS1,GJC2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPD8,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3916,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NENF,NFASC,NID1,NLRP3,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPN3,OPTC,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PARP1,PCNXL2,PFKFB2,PGBD2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SH3BP5L,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM58,TRIM67,TSNAX,TSNAX-DISC1,TTC13,UBE2T,URB2,USH2A,VASH2,VN1R5,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr1 198700000 249250621 Gain Hepatocellular carcinoma Array CGH 18803288 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ATF3,ATP2B4,AURKAPS1,AVPR1B,B3GALNT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf229,C1orf31,C1orf35,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDK18,CENPF,CEP170,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,FAIM3,FAM177B,FAM58BP,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GCSAML,GCSAML-AS1,GGPS1,GJC2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100131234,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPD8,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR135B,MIR1537,MIR181A1,MIR181B1,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3916,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NENF,NFASC,NID1,NLRP3,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPN3,OPTC,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PARP1,PCNXL2,PFKFB2,PGBD2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRC,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SH3BP5L,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM58,TRIM67,TSNAX,TSNAX-DISC1,TTC13,UBE2T,URB2,USH2A,VASH2,VN1R5,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZC3H11A,ZNF124,ZNF238,ZNF281,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr1 19870518 21264484 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C1orf151-NBL1,CAMK2N1,CDA,DDOST,EIF4G3,FAM43B,HP1BP3,HTR6,KIF17,LOC339505,MINOS1,MUL1,NBL1,OTUD3,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,RNF186,SH2D5,TMCO4,UBXN10,VWA5B1 chr1 198708730 198716788 Gain and loss Pancreatic cancer SNP array 17952125 PTPRC chr1 198711425 204204143 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,BTG2,C1orf106,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CSRP1,CYB5R1,DDX59,ELF3,ETNK2,FAM58BP,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHL12,LAD1,LAX1,LGR6,LINC00260,LINC00303,LMOD1,LOC100131234,LOC148709,LOC401980,LOC641515,LOC730227,MIR1231,MIR181A1,MIR181B1,MIR5191,MYBPH,MYOG,NAV1,NR5A2,OPTC,PHLDA3,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PRELP,PTPN7,PTPRC,PTPRVP,RABIF,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMEM183A,TMEM183B,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr11 98727539 98801007 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr11 98746781 98746881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 98748788 98748888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198756446 198756546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198771625 198771726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 198771647 198771726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 98772220 99045260 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN5 chr11 98774507 98774659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 98774763 98774863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 98781533 98781872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 198787929 198856485 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 LOC100131234,MIR181A1,MIR181B1 chr1 198787930 198856485 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100131234,MIR181A1,MIR181B1 chr1 198787930 198856485 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 LOC100131234,MIR181A1,MIR181B1 chr1 198787930 198856485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100131234,MIR181A1,MIR181B1 chr1 198787930 198856485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100131234,MIR181A1,MIR181B1 chr1 198812198 198928888 Copy number Lung cancer paired-end sequencing 18438408 LOC100131234,MIR181A1,MIR181B1 chr1 19881320 19998997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf151-NBL1,HTR6,MINOS1,NBL1 chr1 19881320 19998997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf151-NBL1,HTR6,MINOS1,NBL1 chr1 198823686 198830290 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131234,MIR181A1,MIR181B1 chr1 198830510 198830610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100131234 chr1 198833634 198845523 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131234 chr1 198841555 198841697 Loss Autism 1M Ailent CGH whole-genome array 21865298 LOC100131234 chr11 98845399 98845499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 198847798 198862366 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131234 chr1 198859666 198905749 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100131234 chr1 198859666 198905749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100131234 chr1 198859666 198905749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100131234 chr1 19886217 19886900 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 98893305 98893405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr1 198894890 199020469 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131234 chr1 198898417 198898516 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131234 chr1 198898833 198920273 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 LOC100131234 chr1 198899151 198899198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100131234 chr1 198924846 199051388 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 198927128 198927189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 198932453 198932546 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 198943676 199062781 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr11 9894977 9896305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SBF2 chr1 19895501 20015500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf151-NBL1,HTR6,MINOS1,NBL1,TMCO4 chr1 198975309 199096452 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 198975309 199096452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198975309 199096452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 198991417 198991488 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 99007192 99137083 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN5 chr11 99026041 99070312 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 CNTN5 chr1 199032443 199042741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 99045260 99673252 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN5 chr1 199049493 199289354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199054395 199054495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199066876 199191178 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 199077131 199223064 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 199078998 199079097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 99079757 99086323 Loss Normal Birdsuite, version 1.5.2 22087296 CNTN5 chr1 199099559 199099900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 99100510 99100897 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CNTN5 chr1 199103044 199104044 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 199105501 199203500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 99106885 99140039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTN5 chr1 199108706 199109929 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199108706 199109929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199108706 199109929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 99109888 99136186 Copy number loss Normal High-resolution SNP genotyping 21211785 CNTN5 chr1 199110893 199110995 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199110893 199110996 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199111001 199996500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 199127291 199151486 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 199127292 199151486 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199127292 199151486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199127292 199151486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199145927 199146018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 99147243 99147778 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CNTN5 chr1 199168098 199168198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199169096 199169198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199172648 199172902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 99177594 99177694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr11 99179058 99179158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr11 99195066 99195593 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CNTN5 chr11 99195066 99195593 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 CNTN5 chr11 99195473 99732683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNTN5 chr11 99195473 99732683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN5 chr11 99195473 99732683 Gain and loss Pancreatic cancer SNP array 17952125 CNTN5 chr11 99195473 99732683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN5 chr1 199203501 199721500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 199205143 199259451 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199205143 199259451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199205143 199259451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199206544 247180554 Copy number Lung cancer paired-end sequencing 18438408 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADIPOR1,ADORA1,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARL8A,ARV1,ASCL5,ATF3,ATP2B4,AURKAPS1,AVPR1B,B3GALNT2,BATF3,BPNT1,BROX,BTG2,C1orf100,C1orf101,C1orf106,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf31,C1orf35,C1orf65,C1orf74,C1orf95,C1orf98,C4BPA,C4BPB,CACNA1S,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDK18,CENPF,CEP170,CHI3L1,CHIT1,CHML,CHRM3,CNIH3,CNIH4,CNST,CNTN2,COG2,COX20,CR1,CR1L,CR2,CSRP1,CTSE,CYB5R1,DDX59,DEGS1,DESI2,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EFCAB2,EGLN1,EIF2D,ELF3,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXO1,EXOC8,FAIM3,FAM177B,FAM58BP,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FH,FLVCR1,FLVCR1-AS1,FMN2,FMOD,G0S2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GPR25,GPR37L1,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,HSD11B1,IARS2,IBA57,IGFN1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IPO9,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCTD3,KDM5B,KDM5B-AS1,KIAA1383,KIAA1804,KIF14,KIF21B,KIF26B,KISS1,KLHDC8A,KLHL12,KMO,LAD1,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LGR6,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LMOD1,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC339529,LOC339535,LOC401980,LOC641515,LOC643723,LOC728463,LOC730227,LOC731275,LPGAT1,LRRN2,LYPLAL1,LYST,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR1231,MIR135B,MIR1537,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR5191,MIR664,MIXL1,MRPL55,MTR,MYBPH,MYOG,NAV1,NEK2,NENF,NFASC,NID1,NR5A2,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPN3,OPTC,PARP1,PCNXL2,PFKFB2,PGBD5,PHLDA3,PIGR,PIK3C2B,PKP1,PLD5,PLEKHA6,PLXNA2,PM20D1,PPFIA4,PPP1R12B,PPP1R15B,PPP2R5A,PRELP,PROX1,PRSS38,PSEN2,PTPN14,PTPN7,PTPRVP,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RABIF,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RGS7,RHOU,RNF187,RNPEP,RNU5F-1,RNU6-79,RPS10P7,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SERTAD4,SERTAD4-AS1,SHISA4,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,SYT2,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TIMM17A,TLR5,TMCC2,TMEM183A,TMEM183B,TMEM206,TMEM63A,TMEM81,TMEM9,TNNI1,TNNT2,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,UBE2T,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,YOD1,ZBED6,ZC3H11A,ZNF238,ZNF281,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr11 99220072 99220607 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CNTN5 chr1 199228097 199228233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199228099 199228204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199237431 200523804 Copy number Lung cancer paired-end sequencing 18438408 C1orf98,FAM58BP,KIF14,NR5A2,ZNF281 chr11 99242165 99242265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr1 199251650 199251750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 99252539 99540380 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CNTN5 chr11 99262939 100472391 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN5 chr11 99264863 99265121 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CNTN5 chr1 199272182 199278793 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199275263 199348317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199275263 199348317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199275263 199348317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199296545 199411202 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199299046 199455863 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 199304011 199304111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199340077 199368287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 199341385 203373950 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADIPOR1,ADORA1,ARL8A,ASCL5,BTG2,C1orf106,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CSRP1,CYB5R1,DDX59,ELF3,FAM58BP,FMOD,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KLHL12,LAD1,LGR6,LMOD1,LOC148709,LOC401980,LOC641515,LOC730227,MIR1231,MIR5191,MYBPH,MYOG,NAV1,NR5A2,PHLDA3,PKP1,PPFIA4,PPP1R12B,PTPN7,PTPRVP,RABIF,RNPEP,RNU6-79,RPS10P7,SHISA4,SYT2,TIMM17A,TMEM183A,TMEM183B,TMEM9,TNNI1,TNNT2,UBE2T,ZNF281 chr1 199350515 199351111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 99363847 99363879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr11 9936862 9937909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SBF2 chr11 9936888 9937723 Gain and loss Pancreatic cancer SNP array 17952125 SBF2 chr1 199370522 199407325 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 199370524 199407325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199370524 199407325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199370524 199407325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199428190 199509500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 99429694 99429794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr11 99432803 99465954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTN5 chr1 199445247 199445347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199448013 199448013 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr1 199448393 199464693 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199449165 199464292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199483321 199483421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199488297 199521343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 99488611 100287259 Loss Autism Inheritance 20685689 CNTN5 chr1 199504267 199504413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199514157 199514301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199519203 199568738 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199519203 199568738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199519203 199568738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199521051 199527996 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 99528987 99529335 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CNTN5 chr1 199553782 199559884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199562539 199576026 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199579745 199589920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 99587807 99587907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr1 199591887 199628028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199594759 199613431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199594759 199613431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199594759 199613431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199615666 199615765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199615667 199615765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199616588 199635292 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 199616593 199635299 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199616593 199635353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199616593 199635353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 99623248 99653631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTN5 chr11 99628867 99628958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr1 199639519 199665617 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199639519 199665617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199639519 199665617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199641611 199659068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199662661 199668065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199664726 199665111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199666546 199666578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199667493 199705730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 99673252 101666444 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARHGAP42,CNTN5,LOC101054525,MIR3920,PGR,TMEM133,TRPC6 chr11 9968935 10001012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SBF2 chr1 199701245 199704988 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199701245 199704988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199701245 199704988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 19970327 19970403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf151-NBL1,NBL1 chr1 199708191 199724324 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199712420 199740525 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 199719281 199745207 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 199719281 199745207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199719281 199745207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199721501 199884500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 99727620 99727720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr1 199751968 199779520 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199755807 199756301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199756823 199764188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr11 997585 998768 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2A2 chr1 19976690 19984735 Gain and loss Pancreatic cancer SNP array 17952125 C1orf151-NBL1,NBL1 chr11 99772752 99773059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN5 chr1 199774971 199775055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199783916 199786823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199791439 199868190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr11 99804638 99849629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTN5 chr11 9980668 10007996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SBF2 chr11 99818696 99818786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN5 chr1 199859224 200062720 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NR5A2 chr1 199859224 200062720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 199859224 200062720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 199868606 199876599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199879587 199887534 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 199884501 199886500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 199886501 199978500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr11 99896089 100602586 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP42,CNTN5 chr1 199897831 199898242 Loss Normal 244K array 17666407 NOT_FOUND chr1 199911160 199911260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 199911375 200060063 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NR5A2 chr1 199917452 199930451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 19992106 19995416 Gain and loss Pancreatic cancer SNP array 17952125 HTR6 chr1 199924341 199924427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr11 99942414 99987163 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTN5 chr11 99943861 99944005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN5 chr11 99957205 134439182 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AASDHPPT,ABCG4,ACAD8,ACAT1,ACRV1,ADAMTS15,ADAMTS8,ALG9,ALKBH8,AMICA1,ANGPTL5,ANKK1,APLP2,APOA1,APOA4,APOA5,APOC3,ARCN1,ARHGAP20,ARHGAP32,ARHGAP42,ARHGEF12,ATM,ATP5L,B3GAT1,BACE1,BACE1-AS,BARX2,BCL9L,BCO2,BIRC2,BIRC3,BLID,BSX,BTG4,BUD13,C11orf1,C11orf34,C11orf45,C11orf52,C11orf53,C11orf57,C11orf63,C11orf65,C11orf70,C11orf71,C11orf87,C11orf88,C11orf92,C11orf93,C1QTNF5,C2CD2L,CADM1,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CBL,CCDC15,CCDC153,CCDC84,CD3D,CD3E,CD3G,CDON,CEP164,CHEK1,CLDN25,CLMP,CNTN5,CRTAM,CRYAB,CUL5,CWF19L2,CXCR5,DCPS,DCUN1D5,DDI1,DDX10,DDX25,DDX6,DIXDC1,DLAT,DPAGT1,DRD2,DSCAML1,DYNC2H1,EI24,ELMOD1,ESAM,ETS1,EXPH5,FAM118B,FDX1,FDXACB1,FEZ1,FLI1,FLI1-AS1,FLJ39051,FOXR1,FOXRED1,FXYD2,FXYD6,FXYD6-FXYD2,GLB1L2,GLB1L3,GRAMD1B,GRIA4,GRIK4,GUCY1A2,H2AFX,HEPACAM,HEPN1,HINFP,HMBS,HSPA8,HSPB2,HSPB2-C11orf52,HTR3A,HTR3B,HYLS1,HYOU1,IFT46,IGSF9B,IL10RA,IL18,JAM3,KBTBD3,KCNJ1,KCNJ5,KDELC2,KIAA1377,KIRREL3,KIRREL3-AS2,KIRREL3-AS3,LAYN,LINC00167,LOC100128239,LOC100131626,LOC100132078,LOC100288346,LOC100499227,LOC100652768,LOC101054525,LOC283143,LOC283174,LOC283177,LOC341056,LOC643733,LOC643923,LOC649133,MCAM,MFRP,MIR100,MIR100HG,MIR125B1,MIR3167,MIR34B,MIR34C,MIR3656,MIR3920,MIR4301,MIR4491,MIR4492,MIR4493,MIR4693,MIR4697,MIRLET7A2,MLL,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MPZL2,MPZL3,MSANTD2,MSANTD4,NCAM1,NCAPD3,NFRKB,NLRX1,NNMT,NPAT,NRGN,NTM,NXPE1,NXPE2,NXPE4,OAF,OPCML,OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6M1,OR6T1,OR6X1,OR8A1,OR8B12,OR8B2,OR8B3,OR8B4,OR8B8,OR8D1,OR8D2,OR8D4,OR8G1,OR8G2,OR8G5,PAFAH1B2,PANX3,PATE1,PATE2,PATE3,PATE4,PCSK7,PDGFD,PDZD3,PGR,PHLDB1,PIH1D2,PKNOX2,POU2AF1,POU2F3,PPP2R1B,PRDM10,PTS,PUS3,PVRL1,RAB39A,RBM7,RDX,REXO2,RNF214,RNF26,ROBO3,ROBO4,RPL23AP64,RPS25,RPUSD4,SC5DL,SCN2B,SCN3B,SCN4B,SDHD,SIAE,SIDT2,SIK2,SIK3,SLC35F2,SLC37A2,SLC37A4,SLN,SNX19,SORL1,SPA17,SPATA19,SRPR,ST14,ST3GAL4,STT3A,TAGLN,TBCEL,TBRG1,TECTA,TEX12,THY1,THYN1,TIMM8B,TIRAP,TMEM123,TMEM133,TMEM136,TMEM218,TMEM225,TMEM25,TMEM45B,TMPRSS13,TMPRSS4,TMPRSS4-AS1,TMPRSS5,TP53AIP1,TRAPPC4,TREH,TRIM29,TRPC6,TTC12,TTC36,UBASH3B,UBE4A,UPK2,USP2,USP28,VPS11,VPS26B,VSIG2,VWA5A,WTAPP1,YAP1,ZBTB16,ZBTB44,ZC3H12C,ZNF202,ZNF259,ZW10 chr1 199966395 199966719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 199969157 199969256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr11 99990109 99992134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN5 chr1 199996501 200249500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM58BP,NR5A2 chr11 99996804 106984378 Copy number Lung cancer paired-end sequencing 18438408 AASDHPPT,ANGPTL5,ARHGAP42,BIRC2,BIRC3,C11orf70,CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,CNTN5,DCUN1D5,DDI1,DYNC2H1,GRIA4,GUCY1A2,KBTBD3,KIAA1377,LOC101054525,LOC643733,MIR3920,MIR4693,MMP1,MMP10,MMP12,MMP13,MMP20,MMP27,MMP3,MMP7,MMP8,MSANTD4,PDGFD,PGR,TMEM123,TMEM133,TRPC6,WTAPP1,YAP1 chr11 9999768 9999863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SBF2 chr1 200006321 200010384 Gain and loss Pancreatic cancer SNP array 17952125 NR5A2 chr1 200010125 200252796 Deletion Cancer ultra-high resolution array CGH 21272361 FAM58BP,NR5A2 chr1 200019781 200019883 Gain and loss Pancreatic cancer SNP array 17952125 NR5A2 chr1 200019781 200019884 Gain and loss Pancreatic cancer SNP array 17952125 NR5A2 chr1 200041414 200051891 Gain and loss Pancreatic cancer SNP array 17952125 NR5A2 chr1 200044362 200044453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 200064911 200120045 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NR5A2 chr1 200064911 200120045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 200064911 200120045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 200091835 200091935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR5A2 chr1 200123147 200123214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR5A2 chr1 200124001 200134500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NR5A2 chr1 200124440 200128049 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NR5A2 chr1 200124655 200128053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 200124655 200128053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 200130352 200182339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NR5A2 chr1 200130352 200182339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 200130352 200182339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR5A2 chr1 20013109 20014358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO4 chr1 20013109 20014358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO4 chr1 200176540 200192132 Gain and loss Pancreatic cancer SNP array 17952125 FAM58BP chr1 200191271 200206410 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 200191271 200206410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200191271 200206410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200194928 200209649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 200214212 200214346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200214393 200214700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200218389 200241898 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 200218389 200241898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200218389 200241898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200239001 200395500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf98,ZNF281 chr1 200243696 200251760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200243696 200251760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200243696 200252271 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 200249501 205334800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADIPOR1,ADORA1,ARL8A,ASCL5,ATP2B4,BTG2,C1orf106,C1orf98,CACNA1S,CAMSAP2,CHI3L1,CHIT1,CNTN2,CSRP1,CYB5R1,DDX59,DSTYK,ELF3,ETNK2,FMOD,GOLT1A,GPR25,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF14,KIF21B,KISS1,KLHDC8A,KLHL12,LAD1,LAX1,LGR6,LINC00260,LINC00303,LINC00628,LMOD1,LOC148709,LOC401980,LOC641515,LOC730227,LRRN2,MDM4,MIR1231,MIR5191,MYBPH,MYOG,NAV1,NFASC,NUAK2,OPTC,PHLDA3,PIK3C2B,PKP1,PLEKHA6,PPFIA4,PPP1R12B,PPP1R15B,PRELP,PTPN7,PTPRVP,RABIF,RBBP5,REN,RNPEP,RNU6-79,RPS10P7,SHISA4,SNORA77,SNRPE,SOX13,SYT2,TIMM17A,TMCC2,TMEM183A,TMEM183B,TMEM81,TMEM9,TNNI1,TNNT2,UBE2T,ZBED6,ZC3H11A,ZNF281 chr1 200264357 200264443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200268260 200268360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 200269891 200269991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 200275602 200275685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200327346 200444864 Gain and loss Pancreatic cancer SNP array 17952125 C1orf98,ZNF281 chr1 200332510 200332729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf98 chr1 200332824 200332912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf98 chr1 200356772 200356872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 200358652 200365256 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 200358652 200365257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200358652 200365257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200368600 200380489 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF281 chr1 200368600 200380489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF281 chr1 200368600 200380489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF281 chr1 200382764 200397332 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 200382764 200397332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200382764 200397332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200395501 200431000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 200403802 200425047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200403802 200425047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200427342 200687614 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DDX59,KIF14 chr1 20042769 20043068 Gain and loss Pancreatic cancer SNP array 17952125 TMCO4 chr1 200429561 200555512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF14 chr1 200429561 200555512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF14 chr1 200429740 200554958 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 KIF14 chr1 200429741 200555512 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF14 chr1 200431001 200481500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 200433383 200433482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200439527 200554958 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 KIF14 chr1 200466038 200475664 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 200467419 200467512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20047240 20052215 Gain and loss Pancreatic cancer SNP array 17952125 TMCO4 chr1 200496491 200554909 Gain and loss Pancreatic cancer SNP array 17952125 KIF14 chr1 200506406 200507031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 200537926 200552048 Copy number Lung cancer paired-end sequencing 18438408 KIF14 chr1 200566241 200791046 Copy number Lung cancer paired-end sequencing 18438408 CAMSAP2,DDX59,KIF14 chr1 200567407 200577707 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 KIF14 chr1 200567409 200577707 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF14 chr1 200567409 200577707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF14 chr1 200567409 200577707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF14 chr1 20058329 20058429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMCO4 chr1 200584459 200824320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CAMSAP2,DDX59,KIF14 chr1 200584459 200824320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMSAP2,DDX59,KIF14 chr1 200584459 200824320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMSAP2,DDX59,KIF14 chr1 200604514 200604798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 200605277 200605896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200627322 200627831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DDX59 chr1 200645859 200645958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200674147 200675319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200686136 200686236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 200694034 200694316 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 200707614 200707868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200707614 200707868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 200711989 200712089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMSAP2 chr1 200725963 200726053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMSAP2 chr1 200738160 200741919 Gain and loss Pancreatic cancer SNP array 17952125 CAMSAP2 chr1 200787789 200787889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMSAP2 chr1 200808616 200838261 Copy number Lung cancer paired-end sequencing 18438408 CAMSAP2 chr1 200813755 200827771 Gain and loss Pancreatic cancer SNP array 17952125 CAMSAP2 chr1 20081475 20112016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO4 chr1 20081475 20112016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO4 chr1 200826347 200946168 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf106,CAMSAP2,GPR25,KIF21B chr1 200826347 200946168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf106,CAMSAP2,GPR25,KIF21B chr1 200826347 200946168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf106,CAMSAP2,GPR25,KIF21B chr1 200827522 200828064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMSAP2 chr1 200828238 200828333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMSAP2 chr1 200831848 200852679 Gain and loss Pancreatic cancer SNP array 17952125 GPR25 chr1 200855605 200867122 Gain and loss Pancreatic cancer SNP array 17952125 C1orf106 chr1 200856848 200856921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 200857108 203420404 Copy number Lung cancer paired-end sequencing 18438408 ADIPOR1,ADORA1,ARL8A,ASCL5,BTG2,C1orf106,CACNA1S,CHI3L1,CHIT1,CSRP1,CYB5R1,ELF3,FMOD,GPR37L1,IGFN1,IPO9,KDM5B,KDM5B-AS1,KIF21B,KLHL12,LAD1,LGR6,LMOD1,LOC148709,LOC401980,LOC641515,LOC730227,MIR1231,MIR5191,MYBPH,MYOG,NAV1,PHLDA3,PKP1,PPFIA4,PPP1R12B,PTPN7,PTPRVP,RABIF,RNPEP,RNU6-79,RPS10P7,SHISA4,SYT2,TIMM17A,TMEM183A,TMEM183B,TMEM9,TNNI1,TNNT2,UBE2T chr1 200858000 202110000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 ARL8A,ASCL5,C1orf106,CACNA1S,CSRP1,ELF3,GPR37L1,IGFN1,IPO9,KIF21B,LAD1,LMOD1,MIR1231,MIR5191,NAV1,PHLDA3,PKP1,RNPEP,RNU6-79,RPS10P7,SHISA4,TIMM17A,TMEM9,TNNI1,TNNT2 chr1 200858501 200881000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf106 chr1 200876298 200876398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf106 chr1 200891247 200897271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 200898876 200898976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 200898945 200914877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 200919639 201060701 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1S,KIF21B chr1 200934115 200962042 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIF21B chr1 200963154 201044172 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CACNA1S,KIF21B chr1 200963156 201045186 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CACNA1S,KIF21B chr1 200963156 201045186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1S,KIF21B chr1 200963156 201045186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1S,KIF21B chr1 200970000 201360000 Gain Burkitt's lymphoma 244 K aCGH platform 19759907 ASCL5,CACNA1S,IGFN1,KIF21B,LAD1,PKP1,TMEM9,TNNT2 chr1 200990044 200990129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF21B chr1 201002980 201003171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201010185 201010272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1S chr1 201031781 201032845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1S chr1 201056008 201062962 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CACNA1S chr1 201056008 201062962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1S chr1 201088742 201094850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201088742 201094850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201104178 201112576 Gain and loss Pancreatic cancer SNP array 17952125 TMEM9 chr1 201109045 201110077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM9 chr1 201109045 201110077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM9 chr1 201110303 201110380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM9 chr1 201114708 201124886 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 TMEM9 chr1 201114711 201124886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM9 chr1 201114711 201124886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM9 chr1 201123427 201191131 Gain and loss Pancreatic cancer SNP array 17952125 IGFN1,TMEM9 chr1 201126852 201162994 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 IGFN1 chr1 201126852 201162994 Gain or loss Breast cancer - 20668451 IGFN1 chr1 201126852 201162994 Gain or loss Cancer - 20668451 IGFN1 chr1 201126852 201162994 Gain or loss Lung cancer - 20668451 IGFN1 chr1 201126852 201162994 Gain or loss Ovarian cancer - 20668451 IGFN1 chr1 201126852 201162994 Gain or loss Pancreas cancer - 20668451 IGFN1 chr1 201126852 201162994 Gain or loss Prostate cancer - 20668451 IGFN1 chr1 201126853 201164387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGFN1 chr1 201126853 201164387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGFN1 chr1 201147563 201148482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201150631 201150731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20117501 20119500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMCO4 chr1 201176577 201194040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGFN1 chr1 201176577 201194040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGFN1 chr1 20119387 20122697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO4 chr1 20119387 20122697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO4 chr1 20119501 20123500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMCO4 chr1 201197627 201203027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGFN1 chr1 201197627 201203027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGFN1 chr1 201213710 201260725 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PKP1 chr1 201217223 201251016 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 201222308 201224333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20123501 20338000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OTUD3,PLA2G2A,PLA2G2E,RNF186,TMCO4 chr1 201235489 201236103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201239697 201239842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201240610 201240724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201243157 201259820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKP1 chr1 201243157 201259820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKP1 chr1 201244628 201244684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201256915 201292020 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PKP1 chr1 20125696 20125796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMCO4 chr1 201262001 201401500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAD1,PKP1,TNNI1,TNNT2 chr1 201262249 201314487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKP1 chr1 201262249 201314487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKP1 chr1 201263196 201263306 Gain and loss Pancreatic cancer SNP array 17952125 PKP1 chr1 201263198 201263306 Gain and loss Pancreatic cancer SNP array 17952125 PKP1 chr1 201288442 201320859 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PKP1 chr1 201288747 201288827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKP1 chr1 201317962 201386254 Gain and loss Pancreatic cancer SNP array 17952125 LAD1,TNNI1,TNNT2 chr1 201318880 201322000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201318880 201322000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 0 132349534 Copy number Lung cancer - 20668451 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 0 132349534 Gain or loss Breast cancer - 20668451 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 0 132349534 Gain or loss Cancer - 20668451 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 0 132349534 Gain or loss Lung cancer - 20668451 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 0 132349534 Gain or loss Ovarian cancer - 20668451 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 0 132349534 Gain or loss Pancreas cancer - 20668451 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 0 132349534 Gain or loss Prostate cancer - 20668451 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr1 201326405 201403156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAD1,TNNI1,TNNT2 chr1 201326405 201403156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAD1,TNNI1,TNNT2 chr1 201354280 202234966 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL8A,CSRP1,ELF3,GPR37L1,IPO9,LAD1,LGR6,LMOD1,MIR1231,MIR5191,NAV1,PHLDA3,PTPN7,PTPRVP,RNPEP,RNU6-79,RPS10P7,SHISA4,TIMM17A,TNNI1 chr1 201379374 201379420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNNI1 chr1 201384115 201384200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNNI1 chr1 2013924 2253748 Loss Developmental delay affymetrix genechip 500K/SNP 6.0 array 21147756 C1orf86,MORN1,PRKCZ,SKI chr1 201401501 201412000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 201403562 201411565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201403562 201411565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2014071 2148988 Gain and loss Pancreatic cancer SNP array 17952125 C1orf86,PRKCZ chr1 201408126 201408213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20141 137979 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P chr1 201412001 201864000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSRP1,IPO9,MIR1231,MIR5191,NAV1,PHLDA3,RNU6-79,RPS10P7,SHISA4 chr1 201414682 201422545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20142128 20162959 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20142852 20187777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 201432091 201433352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 2014415 2017244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCZ chr1 201441600 201465422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSRP1 chr1 201448364 201448429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201491494 201492228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20150000 21000000 Loss Breast cancer aCGH 21509527 CAMK2N1,CDA,DDOST,FAM43B,KIF17,LOC339505,MUL1,OTUD3,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,UBXN10,VWA5B1 chr1 20152094 20152192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201541287 201545348 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 201541287 201545348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201541287 201545348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201554747 201554850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201576376 201586912 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 201576376 201586912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201576376 201586912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201589116 201589402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201601928 201602028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201615904 201615964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201645101 201719530 Gain and loss Pancreatic cancer SNP array 17952125 MIR5191,NAV1 chr1 201647436 201647954 Gain and loss Pancreatic cancer SNP array 17952125 NAV1 chr1 2016609 3440865 Loss Developmental delay affymetrix genechip 500K/SNP 6.1 array 21147756 ACTRT2,ARHGEF16,C1orf86,FAM213B,FLJ42875,HES5,LOC100129534,LOC100133445,LOC115110,MEGF6,MIR4251,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRDM16,PRKCZ,RER1,SKI,TNFRSF14,TTC34 chr1 201678483 203358272 Amplification Cancer Affymetrix 250K Sty array 20164920 ADIPOR1,ADORA1,ARL8A,BTG2,CHI3L1,CHIT1,CYB5R1,ELF3,FMOD,GPR37L1,IPO9,KDM5B,KDM5B-AS1,KLHL12,LGR6,LMOD1,LOC148709,LOC401980,LOC641515,LOC730227,MIR1231,MIR5191,MYBPH,MYOG,NAV1,PPFIA4,PPP1R12B,PTPN7,PTPRVP,RABIF,RNPEP,RNU6-79,SHISA4,SYT2,TIMM17A,TMEM183A,TMEM183B,UBE2T chr1 201685289 201717387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR5191,NAV1 chr1 20170049 20170347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20170050 20170349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201711506 201727098 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NAV1 chr1 201711506 201727098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAV1 chr1 201711506 201727098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV1 chr1 201729894 201744700 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NAV1,RNU6-79 chr1 201729894 201744700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAV1,RNU6-79 chr1 201729894 201744700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV1,RNU6-79 chr1 201743997 201778793 Gain and loss Pancreatic cancer SNP array 17952125 MIR1231,NAV1,RNU6-79 chr1 20174516 20179496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20174516 20179496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 201757440 201757514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV1,RNU6-79 chr1 20176010 20176054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201781003 201781083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV1 chr1 201784338 201785105 Gain and loss Pancreatic cancer SNP array 17952125 NAV1 chr1 201788000 201822778 Gain and loss Pancreatic cancer SNP array 17952125 IPO9,NAV1 chr1 20183784 20191314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 201843290 201912347 Gain and loss Pancreatic cancer SNP array 17952125 IPO9,LMOD1,SHISA4 chr1 201844001 201844101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IPO9 chr1 201862312 201984201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ELF3,LMOD1,RNPEP,TIMM17A chr1 201862312 201984201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELF3,LMOD1,RNPEP,TIMM17A chr1 201862312 201984201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELF3,LMOD1,RNPEP,TIMM17A chr1 201864001 201866000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LMOD1 chr1 201892718 201893511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMOD1 chr1 201902973 201903528 Gain and loss Pancreatic cancer SNP array 17952125 LMOD1 chr1 201916735 201916806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 201925225 201925325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TIMM17A chr1 201928927 201974127 Gain and loss Pancreatic cancer SNP array 17952125 RNPEP,TIMM17A chr1 201942811 203355851 Amplification Glioblastoma multiforme Array CGH 19115005 ADIPOR1,ADORA1,ARL8A,BTG2,CHI3L1,CHIT1,CYB5R1,ELF3,FMOD,GPR37L1,KDM5B,KDM5B-AS1,KLHL12,LGR6,LOC148709,LOC401980,LOC641515,LOC730227,MYBPH,MYOG,PPFIA4,PPP1R12B,PTPN7,PTPRVP,RABIF,RNPEP,SYT2,TMEM183A,TMEM183B,UBE2T chr1 201950932 201952854 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNPEP chr1 201951054 201952979 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RNPEP chr1 201965332 201965456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNPEP chr1 202000960 202012101 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 202000960 202012101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 202000960 202012101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 202002850 202022540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 202031373 202089879 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 202031422 202089875 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 202031422 202089875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 202031422 202089875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 202037305 202044389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 202041369 202042014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 202053110 202054076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 202071331 202071663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 202082170 202122841 Gain and loss Pancreatic cancer SNP array 17952125 ARL8A,GPR37L1,PTPN7 chr1 202093644 202093744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR37L1 chr1 202097349 202106903 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ARL8A,GPR37L1 chr1 202097363 202106901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL8A,GPR37L1 chr1 202097367 202105829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL8A,GPR37L1 chr1 202097367 202105829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL8A,GPR37L1 chr1 202108325 202109938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL8A chr1 20211125 20222178 Gain and loss Pancreatic cancer SNP array 17952125 OTUD3 chr1 202132081 202158218 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTPRVP chr1 202135770 202135870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 202139474 202139770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRVP chr1 202149087 202149183 Gain and loss Pancreatic cancer SNP array 17952125 PTPRVP chr1 202154290 202156509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRVP chr1 202166231 202200667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LGR6 chr1 20217094 20217194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTUD3 chr1 20217320 20217420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTUD3 chr1 202180141 202180231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LGR6 chr1 202190391 202191531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGR6 chr1 202203505 202203600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LGR6 chr1 202205384 202233570 Gain and loss Pancreatic cancer SNP array 17952125 LGR6 chr1 202235002 202235094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGR6 chr1 202245318 202245418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LGR6 chr1 202267501 202267564 Gain and loss Pancreatic cancer SNP array 17952125 LGR6 chr1 202267501 202267677 Gain and loss Pancreatic cancer SNP array 17952125 LGR6 chr1 202268198 202277011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LGR6 chr1 202268198 202277011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LGR6 chr1 202268198 202277011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGR6 chr1 202269819 202302994 Gain and loss Pancreatic cancer SNP array 17952125 LGR6,UBE2T chr1 20227259 20290978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OTUD3,PLA2G2E chr1 20227259 20290978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUD3,PLA2G2E chr1 202280112 202280210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LGR6 chr1 202288870 202289217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LGR6 chr1 20229 20366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WASH7P chr1 202295826 202295924 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 202298362 202333657 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12B,UBE2T chr1 202308501 202397500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP1R12B,UBE2T chr1 202308866 202363490 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1R12B,UBE2T chr1 202308866 202363490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B,UBE2T chr1 202308866 202363490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B,UBE2T chr1 202326236 202360056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP1R12B chr1 202358637 202381230 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12B chr1 202366812 202387930 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PPP1R12B chr1 202366814 202387754 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1R12B chr1 202366814 202387754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202366814 202387754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202386222 202583049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B,SYT2 chr1 202386222 202583049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B,SYT2 chr1 202390571 202402088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1R12B chr1 202390571 202402088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202390571 202402088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202397501 202594000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP1R12B,SYT2 chr1 202414154 202417102 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12B chr1 202418072 202450824 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12B chr1 202418757 202419272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202426091 202432242 Gain or loss Breast cancer - 20668451 PPP1R12B chr1 202426091 202432242 Gain or loss Cancer - 20668451 PPP1R12B chr1 202426091 202432242 Gain or loss Lung cancer - 20668451 PPP1R12B chr1 202426091 202432242 Gain or loss Ovarian cancer - 20668451 PPP1R12B chr1 202426091 202432242 Gain or loss Pancreas cancer - 20668451 PPP1R12B chr1 202426091 202432242 Gain or loss Prostate cancer - 20668451 PPP1R12B chr1 202426091 202432242 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PPP1R12B chr1 202426093 202432251 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1R12B chr1 202426093 202432251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202426093 202432251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202432006 202432137 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12B chr1 202433910 202449843 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PPP1R12B chr1 202433911 202449843 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1R12B chr1 202433911 202449843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202433911 202449843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B chr1 202454603 202595667 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PPP1R12B,SYT2 chr1 202454605 202595667 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1R12B,SYT2 chr1 202454605 202595667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B,SYT2 chr1 202454605 202595667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12B,SYT2 chr1 20246805 20246954 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G2E chr1 202469335 202475781 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12B chr1 202477261 202477711 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PPP1R12B chr1 202489881 202513855 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12B chr1 202527683 202550443 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PPP1R12B chr1 202528811 202550917 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12B chr1 202534164 202550443 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PPP1R12B chr1 202538110 202730475 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM5B,PPP1R12B,SYT2 chr1 202571368 202571437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT2 chr1 20257887 20267847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 202590320 202593269 Gain and loss Pancreatic cancer SNP array 17952125 SYT2 chr1 202594001 202599500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYT2 chr1 202613839 202644245 Gain and loss Pancreatic cancer SNP array 17952125 SYT2 chr1 202630292 202630525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT2 chr1 202639144 202647542 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SYT2 chr1 202639144 202647542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT2 chr1 202639144 202647542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT2 chr1 202658388 202730475 Gain or loss Breast cancer - 20668451 KDM5B,SYT2 chr1 202658388 202730475 Gain or loss Cancer - 20668451 KDM5B,SYT2 chr1 202658388 202730475 Gain or loss Lung cancer - 20668451 KDM5B,SYT2 chr1 202658388 202730475 Gain or loss Ovarian cancer - 20668451 KDM5B,SYT2 chr1 202658388 202730475 Gain or loss Pancreas cancer - 20668451 KDM5B,SYT2 chr1 202658388 202730475 Gain or loss Prostate cancer - 20668451 KDM5B,SYT2 chr1 202658388 202730475 Gain Ovarian cancer Array CGH 17875760 KDM5B,SYT2 chr1 202658393 202726097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM5B,SYT2 chr1 202658393 202726097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM5B,SYT2 chr1 202682100 202682186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 202683648 202796430 Amplification Normal Arbitrated Peel-off 21527027 KDM5B,KDM5B-AS1,LOC641515 chr1 202683648 202796430 Amplification Normal Standard peel-off 21527027 KDM5B,KDM5B-AS1,LOC641515 chr1 2026895 2053222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKCZ chr1 20271639 20546395 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,UBXN10 chr1 20271639 21085954 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAMK2N1,CDA,DDOST,FAM43B,HP1BP3,KIF17,LOC339505,MUL1,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,SH2D5,UBXN10,VWA5B1 chr1 202733471 202774818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KDM5B chr1 202733471 202779443 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KDM5B chr1 202736815 202756392 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KDM5B chr1 202736815 202779443 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KDM5B chr1 202752134 202862753 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM5B,KDM5B-AS1,KLHL12,LOC148709,LOC641515,RABIF chr1 202752134 202862753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM5B,KDM5B-AS1,KLHL12,LOC148709,LOC641515,RABIF chr1 202752134 202862753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM5B,KDM5B-AS1,KLHL12,LOC148709,LOC641515,RABIF chr1 202764596 202765443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM5B chr1 202766881 202781625 Amplification Normal GISTIC2.0 21527027 KDM5B,KDM5B-AS1 chr1 202767508 202774706 Gain and loss Pancreatic cancer SNP array 17952125 KDM5B chr1 202768030 203457313 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-260K arrays 21546498 ADIPOR1,ADORA1,BTG2,CHI3L1,CHIT1,CYB5R1,FMOD,KDM5B,KDM5B-AS1,KLHL12,LOC148709,LOC401980,LOC641515,LOC730227,MYBPH,MYOG,PPFIA4,PRELP,RABIF,TMEM183A,TMEM183B chr1 202780704 202781223 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KDM5B-AS1 chr1 202782446 202786316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 202798164 202798272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20280913 20281013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 202825595 202835259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC148709 chr1 202827691 202834969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC148709 chr1 202828389 202840736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC148709 chr1 202852921 202921220 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADIPOR1,KLHL12,RABIF chr1 202852921 202921220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADIPOR1,KLHL12,RABIF chr1 202852921 202921220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADIPOR1,KLHL12,RABIF chr1 202853501 202855500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RABIF chr1 202855501 203277500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADIPOR1,ADORA1,BTG2,CHI3L1,CHIT1,CYB5R1,KLHL12,LOC401980,LOC730227,MYBPH,MYOG,PPFIA4,RABIF,TMEM183A,TMEM183B chr1 202860526 202875171 Gain and loss Pancreatic cancer SNP array 17952125 KLHL12 chr1 202877964 202878059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL12 chr1 202925288 202975313 Duplication Non-syndromic sensorineural hearing loss References 19212409 ADIPOR1,CYB5R1,LOC401980 chr1 202943092 202943179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 202945759 203026174 Gain and loss Pancreatic cancer SNP array 17952125 LOC401980,PPFIA4,TMEM183A,TMEM183B chr1 202963742 202963857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC401980 chr1 20300000 23800000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALPL,ASAP3,C1QA,C1QB,C1QC,C1orf213,CAMK2N1,CDA,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EPHA8,EPHB2,FAM43B,HNRNPR,HP1BP3,HSPG2,HTR1D,KDM1A,KIF17,LDLRAD2,LINC00339,LOC100506801,LOC339505,LOC729059,LUZP1,MIR3115,MIR4253,MIR4684,MUL1,NBPF3,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,RAP1GAP,SH2D5,TCEA3,UBXN10,USP48,VWA5B1,WNT4,ZBTB40,ZNF436 chr1 20300000 23800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALPL,ASAP3,C1QA,C1QB,C1QC,C1orf213,CAMK2N1,CDA,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EPHA8,EPHB2,FAM43B,HNRNPR,HP1BP3,HSPG2,HTR1D,KDM1A,KIF17,LDLRAD2,LINC00339,LOC100506801,LOC339505,LOC729059,LUZP1,MIR3115,MIR4253,MIR4684,MUL1,NBPF3,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,RAP1GAP,SH2D5,TCEA3,UBXN10,USP48,VWA5B1,WNT4,ZBTB40,ZNF436 chr1 20300000 23800000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALPL,ASAP3,C1QA,C1QB,C1QC,C1orf213,CAMK2N1,CDA,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EPHA8,EPHB2,FAM43B,HNRNPR,HP1BP3,HSPG2,HTR1D,KDM1A,KIF17,LDLRAD2,LINC00339,LOC100506801,LOC339505,LOC729059,LUZP1,MIR3115,MIR4253,MIR4684,MUL1,NBPF3,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,RAP1GAP,SH2D5,TCEA3,UBXN10,USP48,VWA5B1,WNT4,ZBTB40,ZNF436 chr1 20300000 23800000 Deletion with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALPL,ASAP3,C1QA,C1QB,C1QC,C1orf213,CAMK2N1,CDA,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EPHA8,EPHB2,FAM43B,HNRNPR,HP1BP3,HSPG2,HTR1D,KDM1A,KIF17,LDLRAD2,LINC00339,LOC100506801,LOC339505,LOC729059,LUZP1,MIR3115,MIR4253,MIR4684,MUL1,NBPF3,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,RAP1GAP,SH2D5,TCEA3,UBXN10,USP48,VWA5B1,WNT4,ZBTB40,ZNF436 chr1 20300000 23800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALPL,ASAP3,C1QA,C1QB,C1QC,C1orf213,CAMK2N1,CDA,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EPHA8,EPHB2,FAM43B,HNRNPR,HP1BP3,HSPG2,HTR1D,KDM1A,KIF17,LDLRAD2,LINC00339,LOC100506801,LOC339505,LOC729059,LUZP1,MIR3115,MIR4253,MIR4684,MUL1,NBPF3,PINK1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,RAP1GAP,SH2D5,TCEA3,UBXN10,USP48,VWA5B1,WNT4,ZBTB40,ZNF436 chr1 20300000 27800000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIM1L,ALPL,ARID1A,ASAP3,AUNIP,C1QA,C1QB,C1QC,C1orf172,C1orf213,C1orf63,CAMK2N1,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA3A,CELA3B,CEP85,CLIC4,CNKSR1,CNR2,DDOST,DHDDS,E2F2,ECE1,EIF4G3,EPHA8,EPHB2,EXTL1,FAM110D,FAM43B,FAM46B,FAM54B,FCN3,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HP1BP3,HSPG2,HTR1D,ID3,IL22RA1,IL28RA,KDM1A,KIF17,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MIR1976,MIR3115,MIR378F,MIR3917,MIR4253,MIR4684,MUL1,MYOM3,NBPF3,NCMAP,NIPAL3,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,PNRC2,RAP1GAP,RCAN3,RCAN3AS,RHCE,RHD,RPL11,RPS6KA1,RUNX3,SEPN1,SFN,SH2D5,SH3BGRL3,SLC30A2,SLC9A1,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,TCEA3,TCEB3,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBXN10,UBXN11,USP48,VWA5B1,WASF2,WDTC1,WNT4,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 203032233 203058617 Gain and loss Pancreatic cancer SNP array 17952125 MYOG,PPFIA4 chr1 203054116 203059445 Gain and loss Pancreatic cancer SNP array 17952125 MYOG chr1 203064446 203258572 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADORA1,CHI3L1,CHIT1,MYBPH chr1 203064446 203258573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADORA1,CHI3L1,CHIT1,MYBPH chr1 203064446 203258573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADORA1,CHI3L1,CHIT1,MYBPH chr1 203067017 205298659 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-290K arrays 21546498 ADORA1,ATP2B4,BTG2,CHI3L1,CHIT1,CNTN2,DSTYK,ETNK2,FMOD,GOLT1A,KISS1,LAX1,LINC00260,LINC00303,LINC00628,LOC730227,LRRN2,MDM4,MYBPH,NFASC,NUAK2,OPTC,PIK3C2B,PLEKHA6,PPP1R15B,PRELP,RBBP5,REN,SNORA77,SNRPE,SOX13,TMCC2,TMEM81,ZBED6,ZC3H11A chr1 203069274 203151001 Gain and loss Pancreatic cancer SNP array 17952125 ADORA1,CHI3L1,MYBPH chr1 20311065 20318595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20311065 20318595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2031321 2031415 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCZ chr1 2031321 2031510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCZ chr1 203145450 203145515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 203153372 203174212 Gain and loss Pancreatic cancer SNP array 17952125 CHI3L1 chr1 203169321 203169406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 203182716 205257820 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP2B4,BTG2,CHIT1,CNTN2,DSTYK,ETNK2,FMOD,GOLT1A,KISS1,LAX1,LINC00260,LINC00303,LINC00628,LOC730227,LRRN2,MDM4,NFASC,OPTC,PIK3C2B,PLEKHA6,PPP1R15B,PRELP,RBBP5,REN,SNORA77,SNRPE,SOX13,TMCC2,TMEM81,ZBED6,ZC3H11A chr1 203197290 203210931 Gain and loss Pancreatic cancer SNP array 17952125 CHIT1 chr1 203215042 203228240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 203246684 203296021 Gain and loss Pancreatic cancer SNP array 17952125 BTG2,LOC730227 chr1 203249336 203291235 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BTG2,LOC730227 chr1 203255158 203318334 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BTG2,FMOD,LOC730227 chr1 203270429 203318334 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BTG2,FMOD,LOC730227 chr1 203277501 203310500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTG2,FMOD chr1 203278963 203313759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMOD chr1 203278963 203313759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMOD chr1 203293473 203293573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 203308142 203308237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 203309721 203309832 Gain and loss Pancreatic cancer SNP array 17952125 FMOD chr1 203309722 203309832 Gain and loss Pancreatic cancer SNP array 17952125 FMOD chr1 203314400 203357766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMOD chr1 203314400 203357766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMOD chr1 203318880 203320211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMOD chr1 203318880 203320211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMOD chr1 203322620 203323163 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 203329343 203334234 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 203335873 203508202 Gain and loss Pancreatic cancer SNP array 17952125 OPTC,PRELP chr1 203360610 203404720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 203370397 203370701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203378255 203447322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRELP chr1 203378255 203447322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRELP chr1 20338001 20352000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 20338406 20349466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20338406 20349466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203406850 203406950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 203427094 203430962 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 203435174 203450101 Copy number Lung cancer paired-end sequencing 18438408 PRELP chr1 203437939 203438494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203446501 203447500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRELP chr1 20345740 20345840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 203459184 203465879 Gain and loss Pancreatic cancer SNP array 17952125 OPTC,PRELP chr1 203463661 203509094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OPTC chr1 203463661 203509094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPTC chr1 203464678 238862314 Copy number Lung cancer paired-end sequencing 18438408 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,AGT,AIDA,ANGEL2,ARF1,ARID4B,ARV1,ATF3,ATP2B4,AURKAPS1,AVPR1B,B3GALNT2,BATF3,BPNT1,BROX,C1orf115,C1orf116,C1orf131,C1orf140,C1orf145,C1orf186,C1orf198,C1orf227,C1orf31,C1orf35,C1orf65,C1orf74,C1orf95,C4BPA,C4BPB,CAMK1G,CAPN2,CAPN8,CAPN9,CCSAP,CD34,CD46,CD55,CDC42BPA,CDK18,CENPF,CNIH3,CNIH4,CNTN2,COG2,CR1,CR1L,CR2,CTSE,DEGS1,DIEXF,DISC1,DISC2,DISP1,DNAH14,DSTYK,DTL,DUSP10,DUSP5P,DYRK3,EDARADD,EGLN1,EIF2D,ELK4,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,ETNK2,EXOC8,FAIM3,FAM177B,FAM71A,FAM72A,FAM89A,FBXO28,FCAMR,FLVCR1,FLVCR1-AS1,G0S2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GOLT1A,GPATCH2,GPR137B,GUK1,H3F3A,H3F3AP4,HEATR1,HHAT,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HSD11B1,IARS2,IBA57,IKBKE,IL10,IL19,IL20,IL24,INTS7,IRF2BP2,IRF6,ITPKB,JMJD4,KCNH1,KCNK1,KCNK2,KCTD3,KIAA1383,KIAA1804,KISS1,KLHDC8A,LAMB3,LAX1,LBR,LEFTY1,LEFTY2,LEMD1,LEMD1-AS1,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00210,LINC00260,LINC00303,LINC00467,LINC00538,LINC00582,LINC00628,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC148696,LOC149373,LOC284578,LOC284581,LOC339535,LOC643723,LOC728463,LPGAT1,LRRN2,LYPLAL1,LYST,MAPKAPK2,MARC1,MARC2,MARK1,MDM4,MFSD4,MIA3,MIR1182,MIR135B,MIR1537,MIR194-1,MIR205,MIR205HG,MIR215,MIR29B2,MIR29C,MIR3122,MIR320B2,MIR3620,MIR4260,MIR4427,MIR4666A,MIR4671,MIR4742,MIR4753,MIR5008,MIR664,MIXL1,MRPL55,MTR,NEK2,NENF,NFASC,NID1,NSL1,NTPCR,NUAK2,NUCKS1,NUP133,NVL,OBSCN,OPTC,PARP1,PCNXL2,PFKFB2,PGBD5,PIGR,PIK3C2B,PLEKHA6,PLXNA2,PM20D1,PPP1R15B,PPP2R5A,PROX1,PRSS38,PSEN2,PTPN14,PYCR2,RAB3GAP2,RAB4A,RAB7L1,RASSF5,RBBP5,RBM34,RCOR3,RD3,REN,RHOU,RNF187,RNU5F-1,RPS6KC1,RRP15,RYR2,SDE2,SERTAD4,SERTAD4-AS1,SIPA1L2,SLC26A9,SLC30A1,SLC30A10,SLC35F3,SLC41A1,SLC45A3,SMYD2,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNORA77,SNRPD2P2,SNRPE,SOX13,SPATA17,SPHAR,SPRTN,SRGAP2,SRP9,SUSD4,SYT14,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TGFB2,TLR5,TMCC2,TMEM206,TMEM63A,TMEM81,TOMM20,TP53BP2,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,USH2A,VASH2,WDR26,WNT3A,WNT9A,YOD1,ZBED6,ZC3H11A,ZNF678,ZNF847P,ZP4 chr1 203466759 203483594 Gain and loss Pancreatic cancer SNP array 17952125 OPTC chr1 203469437 203469891 Gain and loss Pancreatic cancer SNP array 17952125 OPTC chr1 203482501 203589000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 203488461 203488493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 20352001 20883000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMK2N1,FAM43B,LOC339505,MUL1,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,UBXN10,VWA5B1 chr1 203520256 203531865 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 203537816 203557506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203537816 203557506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2035486 2035550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCZ chr1 203566549 203566625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 203572271 203592789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203572271 203592789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203582062 203582181 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 203583410 203594392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 203586998 203587222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203600435 203600540 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B4 chr1 203606734 203612748 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B4 chr1 203609534 203611008 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B4 chr1 203615038 203642383 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B4 chr1 203617129 203685682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2B4 chr1 203617129 203685682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2B4 chr1 20362736 20426050 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G5 chr1 20363071 20374274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20363071 20374274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203641549 203641649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B4 chr1 203650979 203661730 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B4 chr1 203660060 203660154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B4 chr1 203666002 203706701 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B4,LINC00260,SNORA77 chr1 203672001 203773000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2B4,LAX1,LINC00260,SNORA77,ZBED6,ZC3H11A chr1 20368201 20372100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 203684053 203684149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2B4 chr1 20369777 20370324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 203740350 203768544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAX1,ZBED6,ZC3H11A chr1 203740350 203768544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAX1,ZBED6,ZC3H11A chr1 203765769 203767389 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZBED6,ZC3H11A chr1 203773001 203784500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZC3H11A chr1 203803501 203828500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZC3H11A chr1 203804785 203837960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNRPE,ZC3H11A chr1 203804785 203837960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRPE,ZC3H11A chr1 203830792 203830898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRPE chr1 203833327 203868623 Gain or loss Breast cancer - 20668451 SNRPE chr1 203833327 203868623 Gain or loss Cancer - 20668451 SNRPE chr1 203833327 203868623 Gain or loss Lung cancer - 20668451 SNRPE chr1 203833327 203868623 Gain or loss Ovarian cancer - 20668451 SNRPE chr1 203833327 203868623 Gain or loss Pancreas cancer - 20668451 SNRPE chr1 203833327 203868623 Gain or loss Prostate cancer - 20668451 SNRPE chr1 203840686 203876033 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 20385168 20395126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20385168 20395126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203851860 203868623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203851860 203868623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203854672 203876033 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 203861234 203861904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203883260 203922241 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 203893604 203916253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203893604 203916253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203894501 203916500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 203915167 203944064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 203922659 203945952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 203946290 204141479 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ETNK2,LINC00303,REN,SOX13 chr1 203946290 204141479 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ETNK2,LINC00303,REN,SOX13 chr1 203946290 204313462 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ETNK2,GOLT1A,KISS1,LINC00303,PLEKHA6,REN,SOX13 chr1 203953732 203985920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203953732 203985920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203957791 203957891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 203966972 203967103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 203982975 203983454 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20400000 23900000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ALPL,ASAP3,C1QA,C1QB,C1QC,C1orf213,CAMK2N1,CDA,CDC42,CELA3A,CELA3B,DDOST,E2F2,ECE1,EIF4G3,EPHA8,EPHB2,FAM43B,HNRNPR,HP1BP3,HSPG2,HTR1D,ID3,KDM1A,KIF17,LDLRAD2,LINC00339,LOC100506801,LOC339505,LOC729059,LUZP1,MIR3115,MIR4253,MIR4684,MUL1,NBPF3,PINK1,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,RAP1GAP,SH2D5,TCEA3,UBXN10,USP48,VWA5B1,WNT4,ZBTB40,ZNF436 chr1 204004300 204011222 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LINC00303 chr1 204004301 204011200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00303 chr1 204004301 204011200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00303 chr1 204016065 204051620 Gain and loss Pancreatic cancer SNP array 17952125 SOX13 chr1 204024847 204048821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX13 chr1 204024847 204048821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX13 chr1 204030501 204050000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SOX13 chr1 204063777 204085883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX13 chr1 204063777 204085883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX13 chr1 204078017 204125118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETNK2,REN,SOX13 chr1 204081306 204127910 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETNK2,REN,SOX13 chr1 204084961 204149527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETNK2,REN,SOX13 chr1 204085127 204135680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETNK2,REN,SOX13 chr1 204085269 204127721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETNK2,REN,SOX13 chr1 204085342 204126715 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETNK2,REN,SOX13 chr1 204095771 204143080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETNK2,REN,SOX13 chr1 20410138 20440738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLA2G2D,PLA2G5 chr1 204106128 204128928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETNK2,REN chr1 204120203 204120331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ETNK2 chr1 204125019 204136497 Loss or gain Normal 244K array 17666407 REN chr1 204125286 204128235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 REN chr1 204148799 204179211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLT1A,KISS1 chr1 204148799 204179211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLT1A,KISS1 chr1 204150819 204150819 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr1 204156501 204188000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GOLT1A,KISS1,PLEKHA6 chr1 20419974 20452932 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLA2G2D chr1 204225072 204225172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 204233058 204233128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 204236875 204236946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 204238242 204238477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 204238369 204238469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 204238454 204238488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 204238454 204238682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 204239200 204300156 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA6 chr1 204239359 204366782 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LINC00628,PLEKHA6 chr1 204275670 204275738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 2042868 2043185 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PRKCZ chr1 204300501 204309250 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHA6 chr1 204303958 204321697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA6 chr1 204303958 204321697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA6 chr1 204305659 204305744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA6 chr1 204313797 204357253 Gain and loss Pancreatic cancer SNP array 17952125 LINC00628,PLEKHA6 chr1 204333879 204333923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204335118 204335198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204344862 204345057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204344947 204345047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204345042 204345256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204345073 204345122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204346677 204347066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 204363592 204363679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 204364183 204364263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 204366510 204372520 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP1R15B chr1 204390067 204390865 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 204390567 204398262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIK3C2B chr1 204390567 204398262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2B chr1 204390567 204398262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2B chr1 204405495 204455270 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIK3C2B chr1 204405495 204455270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2B chr1 204405495 204455270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2B chr1 204423947 204456317 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3C2B chr1 204424298 206588789 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-261K arrays 21546498 AVPR1B,C1orf186,CDK18,CNTN2,CTSE,DSTYK,ELK4,FAM72A,KLHDC8A,LEMD1,LEMD1-AS1,LOC284578,LOC284581,LRRN2,MDM4,MFSD4,MIR135B,NFASC,NUAK2,NUCKS1,PIK3C2B,PM20D1,RAB7L1,RBBP5,SLC26A9,SLC41A1,SLC45A3,SRGAP2,TMCC2,TMEM81 chr1 204427915 204457500 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PIK3C2B chr1 204432874 204473078 Gain and loss Pancreatic cancer SNP array 17952125 PIK3C2B chr1 204434611 204434706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3C2B chr1 204445801 204451500 Deletion Glioma mate-paired sequence 20126413 PIK3C2B chr1 204456970 204457030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3C2B chr1 204459097 204461297 Inversion Breast cancer Illumina 1M duo array 20393555 PIK3C2B chr1 204459547 204460581 Inversion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr1 204477622 220287854 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ANGEL2,ATF3,AVPR1B,BATF3,BPNT1,C1orf116,C1orf186,C1orf227,C1orf74,C4BPA,C4BPB,CAMK1G,CD34,CD46,CD55,CDK18,CENPF,CNTN2,CR1,CR1L,CR2,CTSE,DIEXF,DSTYK,DTL,DYRK3,EIF2D,ELK4,EPRS,ESRRG,FAIM3,FAM71A,FAM72A,FCAMR,FLVCR1,FLVCR1-AS1,G0S2,GPATCH2,HHAT,HSD11B1,IARS2,IKBKE,IL10,IL19,IL20,IL24,INTS7,IRF6,KCNH1,KCNK2,KCTD3,KLHDC8A,LAMB3,LEMD1,LEMD1-AS1,LINC00210,LINC00467,LINC00538,LOC148696,LOC284578,LOC284581,LOC643723,LOC728463,LPGAT1,LRRN2,LYPLAL1,MAPKAPK2,MDM4,MFSD4,MIR135B,MIR205,MIR205HG,MIR29B2,MIR29C,MIR3122,MIR4260,NEK2,NENF,NFASC,NSL1,NUAK2,NUCKS1,PFKFB2,PIGR,PLXNA2,PM20D1,PPP2R5A,PROX1,PTPN14,RAB7L1,RASSF5,RBBP5,RCOR3,RD3,RNU5F-1,RPS6KC1,RRP15,SERTAD4,SERTAD4-AS1,SLC26A9,SLC30A1,SLC30A10,SLC41A1,SLC45A3,SMYD2,SNORA16B,SPATA17,SRGAP2,SYT14,TATDN3,TGFB2,TMCC2,TMEM206,TMEM81,TRAF3IP3,TRAF5,USH2A,VASH2,YOD1 chr1 204484082 204498727 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MDM4 chr1 204484082 204498727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MDM4 chr1 204484082 204498727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MDM4 chr1 204509851 204554565 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MDM4 chr1 204523890 204556220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MDM4 chr1 204527052 204527152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDM4 chr1 204535221 204569481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 204553575 204553655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204554877 204554998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204571606 204571685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204573301 204573412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 204573301 204573412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 204582820 204704406 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRRN2 chr1 204582820 204704406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRN2 chr1 204582820 204704406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRN2 chr1 204582822 204696128 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 LRRN2 chr1 204585818 204586186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 204588614 204805511 Gain and loss Pancreatic cancer SNP array 17952125 LRRN2,NFASC chr1 204621229 204645692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRN2 chr1 204622578 204670033 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LRRN2 chr1 204639856 204639956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRN2 chr1 204665733 204698717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 204709001 204748500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 204710418 204736845 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 204710418 204736845 Copy number Lung cancer - 20668451 NOT_FOUND chr1 204710418 204736845 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 204710418 204736845 Gain or loss Cancer - 20668451 NOT_FOUND chr1 204710418 204736845 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 204710418 204736845 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 204710418 204736845 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 204710418 204736845 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 204710419 204736845 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 204710419 204736845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 204710419 204736845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 204714410 204728867 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 204731072 204737684 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 204731072 204737684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 204731072 204737684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 204746118 204746218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 204747502 204829238 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NFASC chr1 204747502 204829238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204747502 204829238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204748501 204978000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFASC chr1 204768871 204769662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 204824142 204824201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFASC chr1 204831600 204852527 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NFASC chr1 204831600 204852527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204831600 204852527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204833949 204834030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFASC chr1 204852543 204852643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFASC chr1 204866731 204924381 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NFASC chr1 204866731 204924381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204866731 204924381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204881306 204882282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFASC chr1 20490017 20553343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLA2G2C,UBXN10 chr1 20490017 20553343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G2C,UBXN10 chr1 204924911 204974249 Gain or loss Breast cancer - 20668451 NFASC chr1 204924911 204974249 Gain or loss Cancer - 20668451 NFASC chr1 204924911 204974249 Gain or loss Lung cancer - 20668451 NFASC chr1 204924911 204974249 Gain or loss Ovarian cancer - 20668451 NFASC chr1 204924911 204974249 Gain or loss Pancreas cancer - 20668451 NFASC chr1 204924911 204974249 Gain or loss Prostate cancer - 20668451 NFASC chr1 204924912 204974249 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NFASC chr1 204924912 204974249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204924912 204974249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204935805 204936237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 204976490 204976589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFASC chr1 204980000 205040000 Gain Acute lymphoblastic leukemia - 21339820 CNTN2,NFASC chr1 204981000 205049000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 CNTN2,NFASC chr1 204987948 204988060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFASC chr1 205007571 205012462 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNTN2 chr1 205007571 205012462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN2 chr1 205007571 205012462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN2 chr1 205008616 205008675 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr1 205031407 205721345 LOH Normal High-resolution SNP genotyping 21211785 CDK18,CNTN2,DSTYK,ELK4,KLHDC8A,LEMD1,LEMD1-AS1,LOC284578,MFSD4,MIR135B,NUAK2,NUCKS1,RBBP5,SLC45A3,TMCC2,TMEM81 chr1 205038838 205082948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNTN2,RBBP5,TMEM81 chr1 205038838 205082948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN2,RBBP5,TMEM81 chr1 205038838 205082948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN2,RBBP5,TMEM81 chr1 205044486 205721345 LOH Normal High-resolution SNP genotyping 21211785 CDK18,CNTN2,DSTYK,ELK4,KLHDC8A,LEMD1,LEMD1-AS1,LOC284578,MFSD4,MIR135B,NUAK2,NUCKS1,RBBP5,SLC45A3,TMCC2,TMEM81 chr1 205044486 205747740 LOH Normal High-resolution SNP genotyping 21211785 CDK18,CNTN2,DSTYK,ELK4,KLHDC8A,LEMD1,LEMD1-AS1,LOC284578,MFSD4,MIR135B,NUAK2,NUCKS1,RAB7L1,RBBP5,SLC45A3,TMCC2,TMEM81 chr1 205056974 205057069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBBP5 chr1 205082580 205941798 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDK18,DSTYK,ELK4,KLHDC8A,LEMD1,LEMD1-AS1,LOC284578,LOC284581,MFSD4,MIR135B,NUAK2,NUCKS1,PM20D1,RAB7L1,RBBP5,SLC26A9,SLC41A1,SLC45A3,TMCC2 chr1 205088907 205109547 Substitutions and indels small cell lung cancer array-CGH 20016488 RBBP5 chr1 205105322 205109191 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 205105322 205109191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 205114395 208124379 Substitutions and indels small cell lung cancer array-CGH 20016488 AVPR1B,C1orf116,C1orf186,C4BPA,C4BPB,CD34,CD46,CD55,CDK18,CR1,CR1L,CR2,CTSE,DSTYK,DYRK3,EIF2D,ELK4,FAIM3,FAM72A,FCAMR,IKBKE,IL10,IL19,IL20,IL24,KLHDC8A,LEMD1,LEMD1-AS1,LOC148696,LOC284578,LOC284581,MAPKAPK2,MFSD4,MIR135B,MIR29B2,MIR29C,NUAK2,NUCKS1,PFKFB2,PIGR,PM20D1,RAB7L1,RASSF5,SLC26A9,SLC41A1,SLC45A3,SRGAP2,TMCC2,YOD1 chr1 205137411 205157788 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DSTYK chr1 205137412 205157788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSTYK chr1 205137412 205157788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSTYK chr1 205144354 205161966 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DSTYK chr1 205144354 205161966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSTYK chr1 205144354 205161966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSTYK chr1 205147587 205148197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSTYK chr1 205168495 205186430 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DSTYK chr1 205168495 205186430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSTYK chr1 205168495 205186430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSTYK chr1 205198133 205210117 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMCC2 chr1 205198133 205210117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCC2 chr1 205198133 205210117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCC2 chr1 205244777 205244853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 205257820 210527492 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 AVPR1B,C1orf116,C1orf186,C1orf74,C4BPA,C4BPB,CAMK1G,CD34,CD46,CD55,CDK18,CR1,CR1L,CR2,CTSE,DIEXF,DYRK3,EIF2D,ELK4,FAIM3,FAM72A,FCAMR,G0S2,HHAT,HSD11B1,IKBKE,IL10,IL19,IL20,IL24,IRF6,KLHDC8A,LAMB3,LEMD1,LEMD1-AS1,LOC148696,LOC284578,LOC284581,MAPKAPK2,MFSD4,MIR135B,MIR205,MIR205HG,MIR29B2,MIR29C,MIR4260,NUAK2,NUCKS1,PFKFB2,PIGR,PLXNA2,PM20D1,RAB7L1,RASSF5,SERTAD4,SERTAD4-AS1,SLC26A9,SLC41A1,SLC45A3,SRGAP2,SYT14,TRAF3IP3,YOD1 chr1 205258489 205272724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUAK2 chr1 205258489 205272724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUAK2 chr1 205258492 205272715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NUAK2 chr1 205275948 205276048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUAK2 chr1 205278663 205278768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUAK2 chr1 205283816 205292948 Gain or loss Breast cancer - 20668451 NUAK2 chr1 205283816 205292948 Gain or loss Cancer - 20668451 NUAK2 chr1 205283816 205292948 Gain or loss Lung cancer - 20668451 NUAK2 chr1 205283816 205292948 Gain or loss Ovarian cancer - 20668451 NUAK2 chr1 205283816 205292948 Gain or loss Pancreas cancer - 20668451 NUAK2 chr1 205283816 205292948 Gain or loss Prostate cancer - 20668451 NUAK2 chr1 205283817 205292948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NUAK2 chr1 205283817 205292948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUAK2 chr1 205283817 205292948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUAK2 chr1 205293243 205320991 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KLHDC8A chr1 205293243 205320991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHDC8A chr1 205293243 205320991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC8A chr1 205300000 209500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AVPR1B,C1orf116,C1orf186,C4BPA,C4BPB,CD34,CD46,CD55,CDK18,CR1,CR1L,CR2,CTSE,DYRK3,EIF2D,ELK4,FAIM3,FAM72A,FCAMR,IKBKE,IL10,IL19,IL20,IL24,KLHDC8A,LEMD1,LEMD1-AS1,LOC148696,LOC284578,LOC284581,MAPKAPK2,MFSD4,MIR135B,MIR29B2,MIR29C,NUCKS1,PFKFB2,PIGR,PLXNA2,PM20D1,RAB7L1,RASSF5,SLC26A9,SLC41A1,SLC45A3,SRGAP2,YOD1 chr1 205300000 209500000 Copy number Normal - 20680643 AVPR1B,C1orf116,C1orf186,C4BPA,C4BPB,CD34,CD46,CD55,CDK18,CR1,CR1L,CR2,CTSE,DYRK3,EIF2D,ELK4,FAIM3,FAM72A,FCAMR,IKBKE,IL10,IL19,IL20,IL24,KLHDC8A,LEMD1,LEMD1-AS1,LOC148696,LOC284578,LOC284581,MAPKAPK2,MFSD4,MIR135B,MIR29B2,MIR29C,NUCKS1,PFKFB2,PIGR,PLXNA2,PM20D1,RAB7L1,RASSF5,SLC26A9,SLC41A1,SLC45A3,SRGAP2,YOD1 chr1 205300000 209500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AVPR1B,C1orf116,C1orf186,C4BPA,C4BPB,CD34,CD46,CD55,CDK18,CR1,CR1L,CR2,CTSE,DYRK3,EIF2D,ELK4,FAIM3,FAM72A,FCAMR,IKBKE,IL10,IL19,IL20,IL24,KLHDC8A,LEMD1,LEMD1-AS1,LOC148696,LOC284578,LOC284581,MAPKAPK2,MFSD4,MIR135B,MIR29B2,MIR29C,NUCKS1,PFKFB2,PIGR,PLXNA2,PM20D1,RAB7L1,RASSF5,SLC26A9,SLC41A1,SLC45A3,SRGAP2,YOD1 chr1 205328835 205339961 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 205328835 205339961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 205328835 205339961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 205334801 205967300 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDK18,ELK4,LEMD1,LEMD1-AS1,LOC284578,LOC284581,MFSD4,MIR135B,NUCKS1,PM20D1,RAB7L1,SLC26A9,SLC41A1,SLC45A3 chr1 205344230 205384929 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LEMD1,LEMD1-AS1 chr1 205344230 205384929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LEMD1,LEMD1-AS1 chr1 205344230 205384929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEMD1,LEMD1-AS1 chr1 205357001 205361800 Deletion Glioma mate-paired sequence 20126413 LEMD1 chr1 205383785 205599637 Gain Autism Exome sequencing and CGH 22495309 CDK18,ELK4,LEMD1,LOC284578,MFSD4,MIR135B chr1 205390145 205390249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEMD1 chr1 205405464 205423878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR135B chr1 205421374 205421459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 205460534 205490965 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDK18 chr1 205460754 205460953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 205460754 205461033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 205465766 205469170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 205470093 205470140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2054906 2089114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKCZ chr1 205503314 205503371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 20555243 20557578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 205561488 205600934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ELK4,MFSD4 chr1 205561488 205600934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELK4,MFSD4 chr1 205561488 205600934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELK4,MFSD4 chr1 205608587 205612187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 205608618 205612197 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 205661203 205661682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 205694293 205729859 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NUCKS1 chr1 205694293 205729859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUCKS1 chr1 205694293 205729859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUCKS1 chr1 20571249 20579960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 205716425 205716504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUCKS1 chr1 205736095 205881733 Copy number Alzheimer's disease multiplex amplicon quantification 21403675 LOC284581,PM20D1,RAB7L1,SLC41A1 chr1 205736096 205881732 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC284581,PM20D1,RAB7L1,SLC41A1 chr1 205736096 205881732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284581,PM20D1,RAB7L1,SLC41A1 chr1 205736096 205881732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284581,PM20D1,RAB7L1,SLC41A1 chr1 205763104 205821509 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PM20D1,SLC41A1 chr1 205777399 205810075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PM20D1,SLC41A1 chr1 205782105 205782164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC41A1 chr1 205793938 205794998 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 205807806 205807806 Copy number Prostate cancer Illumina GA II sequencer 21307934 PM20D1 chr1 205847147 205847247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284581 chr1 205859507 205883648 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC284581,SLC26A9 chr1 205869644 205883648 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC26A9 chr1 205869644 205886936 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC26A9 chr1 205885080 205964676 Copy number Alzheimer's disease multiplex amplicon quantification 21403675 SLC26A9 chr1 205885202 205897378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC26A9 chr1 205898422 205899110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC26A9 chr1 205907686 205912437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC26A9 chr1 205907791 205907891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC26A9 chr1 205909402 205941697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC26A9 chr1 205909413 205941697 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC26A9 chr1 205911616 205911716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC26A9 chr1 20597788 20598543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 205991501 205993000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 205992025 206035481 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 205992025 206035481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 205992025 206035481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 205993873 205993982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20599958 20600058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 206002552 206003231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 206009909 212842686 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATF3,AVPR1B,C1orf116,C1orf186,C1orf74,C4BPA,C4BPB,CAMK1G,CD34,CD46,CD55,CR1,CR1L,CR2,CTSE,DIEXF,DTL,DYRK3,EIF2D,FAIM3,FAM71A,FAM72A,FCAMR,G0S2,HHAT,HSD11B1,IKBKE,IL10,IL19,IL20,IL24,INTS7,IRF6,KCNH1,LAMB3,LINC00467,LOC148696,LPGAT1,MAPKAPK2,MIR205,MIR205HG,MIR29B2,MIR29C,MIR3122,MIR4260,NEK2,NENF,PFKFB2,PIGR,PLXNA2,PPP2R5A,RASSF5,RCOR3,RD3,SERTAD4,SERTAD4-AS1,SLC30A1,SNORA16B,SRGAP2,SYT14,TMEM206,TRAF3IP3,TRAF5,YOD1 chr1 206010196 206016805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 206041820 206041907 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr1 206041820 206041907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 206042411 206042491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 206043501 206492500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AVPR1B,C1orf186,CTSE,FAM72A chr1 206053528 206109116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 206053528 206109116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 206086709 206086828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 206101209 206134882 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 206116942 206151306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM72A chr1 206116942 206151306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM72A chr1 206145440 206175678 Gain and loss Pancreatic cancer SNP array 17952125 FAM72A chr1 206157933 206171660 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 206176632 206214206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 206192122 206192211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 206237160 206238127 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20624238 20626806 Gain and loss Pancreatic cancer SNP array 17952125 VWA5B1 chr1 206247945 206296690 Gain and loss Pancreatic cancer SNP array 17952125 C1orf186 chr1 206262217 206484288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf186,CTSE chr1 206262217 206484288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf186,CTSE chr1 206278020 206278059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf186 chr1 206306115 206306437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 2063064 2063829 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCZ chr1 206318327 206363272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTSE chr1 206321780 206344059 Gain and loss Pancreatic cancer SNP array 17952125 CTSE chr1 206344056 206346299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 206349657 206367874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 206367194 206367263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 206389795 206413817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 206416793 206419303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 206429564 209469901 Gain Neuroblastoma aCGH 20406844 C1orf116,C4BPA,C4BPB,CD34,CD46,CD55,CR1,CR1L,CR2,DYRK3,EIF2D,FAIM3,FCAMR,IKBKE,IL10,IL19,IL20,IL24,LOC148696,MAPKAPK2,MIR29B2,MIR29C,PFKFB2,PIGR,PLXNA2,RASSF5,SRGAP2,YOD1 chr1 206458969 206486892 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 206459950 206489178 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 206463996 206482646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 206464008 206476040 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 206465257 206484805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 206495258 206495344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 206497146 207331775 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf116,C4BPA,C4BPB,DYRK3,EIF2D,FAIM3,FCAMR,IKBKE,IL10,IL19,IL20,IL24,MAPKAPK2,PFKFB2,PIGR,RASSF5,SRGAP2,YOD1 chr1 206497146 207907646 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf116,C4BPA,C4BPB,CD55,CR1,CR1L,CR2,DYRK3,EIF2D,FAIM3,FCAMR,IKBKE,IL10,IL19,IL20,IL24,MAPKAPK2,PFKFB2,PIGR,RASSF5,SRGAP2,YOD1 chr1 20650220 20650249 Loss Normal 244K array 17666407 VWA5B1 chr1 206512331 206523548 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SRGAP2 chr1 206524945 206548321 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SRGAP2 chr1 206530764 206548321 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SRGAP2 chr1 206531533 206548321 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SRGAP2 chr1 206575372 206724705 Gain and loss Pancreatic cancer SNP array 17952125 IKBKE,RASSF5,SRGAP2 chr1 20660835 20690702 Gain and loss Pancreatic cancer SNP array 17952125 LOC339505,VWA5B1 chr1 206635189 206635268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP2 chr1 206641618 206641718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 206647602 206647668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IKBKE chr1 206682088 206682155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASSF5 chr1 206684997 206700159 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RASSF5 chr1 206687384 206698479 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RASSF5 chr1 206690585 206722701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RASSF5 chr1 206704707 206704807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASSF5 chr1 206708935 206709035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASSF5 chr1 206794590 206804833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20681472 20685315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20681472 20685315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20685928 20685960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 20687851 20687951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339505 chr1 206889851 206889950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPKAPK2 chr1 206890692 207238033 Gain and loss Pancreatic cancer SNP array 17952125 C1orf116,FAIM3,FCAMR,IL10,IL19,IL20,IL24,MAPKAPK2,PFKFB2,PIGR,YOD1 chr1 206915994 206916094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 206923598 206923698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 206935893 206936007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 206935895 206936007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 206937337 206937666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20698530 20707241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC339505 chr1 20698530 20707241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339505 chr1 207015733 207015823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL19 chr1 207016015 207060721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL19,IL20 chr1 207036470 207036540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 20705254 20723309 Gain and loss Pancreatic cancer SNP array 17952125 LOC339505 chr1 207154891 207154991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 207175722 207175817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 207179162 207180162 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 207191293 207223836 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf116,YOD1 chr1 207207764 207238706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PFKFB2,YOD1 chr1 207209271 207222498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 YOD1 chr1 20722162 20722513 Gain and loss Pancreatic cancer SNP array 17952125 LOC339505 chr1 20723579 20733250 Gain and loss Pancreatic cancer SNP array 17952125 LOC339505 chr1 207244950 207695852 Gain and loss Pancreatic cancer SNP array 17952125 C4BPA,C4BPB,CD55,CR1,CR2,PFKFB2 chr1 20725069 20725824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339505 chr1 207253865 207253965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PFKFB2 chr1 207284435 207309693 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C4BPA chr1 20728638 20728713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339505 chr1 20735815 20789816 Gain and loss Pancreatic cancer SNP array 17952125 LOC339505 chr1 207362480 207362580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 20736589 20737302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC339505 chr1 207375648 207375720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 207412982 207413343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 207412982 207413343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 207413001 207414500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 207422977 207467512 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 207472164 207473387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 207481509 208451637 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD34,CD46,CD55,CR1,CR1L,CR2,LOC148696,MIR29B2,MIR29C,PLXNA2 chr1 207490021 207490121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 207507766 207508191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD55 chr1 20751519 20754087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC339505 chr1 20751519 20754087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339505 chr1 20757071 20757126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 207579518 207579637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 207582119 207598966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 207665478 207686818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207668188 207668288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 207669472 207815109 Copy number Alzheimer's disease MAQ-S software 21403675 CR1 chr1 207669875 207686818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207669983 207685328 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207670462 207686818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207671725 207688452 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207672101 207672210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CR1 chr1 207707414 207736947 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207707414 207751559 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207707414 207755345 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207707414 207756895 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207707414 207766791 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CR1 chr1 207735226 207735588 Gain and loss Pancreatic cancer SNP array 17952125 CR1 chr1 207768976 207769635 Gain and loss Pancreatic cancer SNP array 17952125 CR1 chr1 207818457 207898053 Copy number Alzheimer's disease MAQ-S software 21403675 CR1L chr1 207821251 207877972 Gain and loss Pancreatic cancer SNP array 17952125 CR1L chr1 207823668 207853906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CR1L chr1 207823668 207853906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CR1L chr1 207828025 207828125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CR1L chr1 207854843 207892443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CR1L chr1 207854843 207892443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CR1L chr1 20786197 20786254 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr1 207865501 207868000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CR1L chr1 20788031 20817985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMK2N1 chr1 20788031 20817985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMK2N1 chr1 20788384 20788484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 207888435 207936677 Gain and loss Pancreatic cancer SNP array 17952125 CD46,CR1L chr1 207911470 207911533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 207915034 207915907 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 20791531 20799876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 207915388 207916355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 207915388 207916355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 207926133 207974918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD46 chr1 207926133 207974918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD46 chr1 207953377 207958568 Gain and loss Pancreatic cancer SNP array 17952125 CD46 chr1 207984341 207985182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 207996022 208022288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 207996022 208022288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 207998744 209421461 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD34,PLXNA2 chr1 208001959 208002699 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 208002834 208025531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 208003984 208004543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208008563 208019621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208022284 208024513 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 208022284 208024527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208022284 208024527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208022442 208036537 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 208027884 208046105 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 208027885 208046102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208027885 208046102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208038259 208053871 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20804616 20805286 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 20805274 20806480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 208067955 208097531 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CD34 chr1 208067956 208097531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD34 chr1 208067956 208097531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD34 chr1 208096981 208097464 Gain Ewing's sarcoma Array CGH 19144156 NOT_FOUND chr1 208129227 208155879 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr1 208134635 208160260 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 208134635 208162284 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 208135577 208160260 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 208135577 208162284 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 208137125 208140349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208144616 208152585 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 208144678 208152593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 20814485 20858487 Gain and loss Pancreatic cancer SNP array 17952125 MUL1 chr1 208148224 208150595 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 208148236 208150607 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 208148236 208150607 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 208148501 208152500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 208162923 222138663 Substitutions and indels small cell lung cancer array-CGH 20016488 ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,C1orf115,C1orf140,C1orf227,C1orf74,CAMK1G,CENPF,DIEXF,DTL,DUSP10,EPRS,ESRRG,FAM71A,FLVCR1,FLVCR1-AS1,G0S2,GPATCH2,HHAT,HLX,HSD11B1,IARS2,INTS7,IRF6,KCNH1,KCNK2,KCTD3,LAMB3,LINC00210,LINC00467,LINC00538,LOC643723,LOC728463,LPGAT1,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR205,MIR205HG,MIR215,MIR3122,MIR4260,MIR664,NEK2,NENF,NSL1,PLXNA2,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RCOR3,RD3,RNU5F-1,RPS6KC1,RRP15,SERTAD4,SERTAD4-AS1,SLC30A1,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,SYT14,TATDN3,TGFB2,TMEM206,TRAF3IP3,TRAF5,USH2A,VASH2 chr1 208168971 208169071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 208178161 208404259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLXNA2 chr1 208178161 208404259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXNA2 chr1 208222923 208223023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXNA2 chr1 208224510 208237355 Gain and loss Pancreatic cancer SNP array 17952125 PLXNA2 chr1 208292050 208292125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXNA2 chr1 20830193 20865317 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUL1 chr1 208306724 208392509 Gain and loss Pancreatic cancer SNP array 17952125 PLXNA2 chr1 20831712 20831906 Gain and loss Pancreatic cancer SNP array 17952125 MUL1 chr1 20832535 20850590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MUL1 chr1 20832535 20850590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUL1 chr1 208336386 208336462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXNA2 chr1 208353848 208354143 Gain and loss Pancreatic cancer SNP array 17952125 PLXNA2 chr1 208361927 208362245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLXNA2 chr1 208451307 208451407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 208471427 208474089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208472501 208474500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 208472818 208483059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208472818 208483059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208491001 208493500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 20849443 20849794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208502136 208597273 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208506848 208507210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20850846 20860624 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 20850847 20860624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20850847 20860624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208543652 208544504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208568228 208916255 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 208568920 208916261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208568920 208916261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208591556 208624741 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 208597526 208666581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208613261 208613743 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208614121 208614234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 20863094 20917097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDA,FAM43B chr1 20863094 20917097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDA,FAM43B chr1 208661205 208661412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208705878 208706079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 208711235 209088872 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 208718401 208753331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 208755170 208755270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 208773216 208773315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 20878282 21246540 Gain and loss Pancreatic cancer SNP array 17952125 CDA,DDOST,EIF4G3,FAM43B,HP1BP3,KIF17,PINK1,SH2D5 chr1 208788822 208791691 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 208789075 208791488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 20883001 20922500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDA chr1 208839644 208839744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 208847274 208923599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208870872 208871255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208872708 208903987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 208887699 208887799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 208894684 208894784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 208914553 208914687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208914555 208914687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20891814 20893093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208923178 209374080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208923178 209374080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 208925668 208976632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 208968148 208968247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 208994675 209008109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209001434 209016118 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 209028638 209028960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 209036538 209231498 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 209062343 209081326 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 209082161 209097115 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 209099142 209102250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209111787 209111887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209112181 209112281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209127720 209127820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209170507 209182509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209186021 209188508 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209186211 209188509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20918812 20931720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDA chr1 20918812 20931720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDA chr1 209217838 209217926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 20922501 20927000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDA chr1 209227105 209260810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 209248155 209261722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209254001 209254104 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20927001 20933000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDA chr1 20927253 20927347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDA chr1 209299328 209353519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209391886 209397886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209394459 209397892 Loss Normal 244K array 17666407 NOT_FOUND chr1 209413453 209413813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209413453 209413813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209413845 209419825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 20941758 20985768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDA,DDOST,PINK1 chr1 20941758 20985768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDA,DDOST,PINK1 chr1 209419992 209457150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209427232 209427326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209435917 209437100 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 209435921 209437104 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 20944573 20944753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDA chr1 209447204 209447861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209450954 209451047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209464807 209464862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209497816 209497901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209499526 209556200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209499526 209556200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209500000 212100000 Copy number Normal - 20680643 C1orf74,CAMK1G,DIEXF,G0S2,HHAT,HSD11B1,IRF6,KCNH1,LAMB3,LINC00467,LPGAT1,MIR205,MIR205HG,MIR4260,NEK2,RCOR3,RD3,SERTAD4,SERTAD4-AS1,SLC30A1,SYT14,TRAF3IP3,TRAF5 chr1 209500000 222100000 Amplification Ovarian clear cell carcinoma FISH 19293255 ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,C1orf115,C1orf140,C1orf227,C1orf74,CAMK1G,CENPF,DIEXF,DTL,DUSP10,EPRS,ESRRG,FAM71A,FLVCR1,FLVCR1-AS1,G0S2,GPATCH2,HHAT,HLX,HSD11B1,IARS2,INTS7,IRF6,KCNH1,KCNK2,KCTD3,LAMB3,LINC00210,LINC00467,LINC00538,LOC643723,LOC728463,LPGAT1,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR205,MIR205HG,MIR215,MIR3122,MIR4260,MIR664,NEK2,NENF,NSL1,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RCOR3,RD3,RNU5F-1,RPS6KC1,RRP15,SERTAD4,SERTAD4-AS1,SLC30A1,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,SYT14,TATDN3,TGFB2,TMEM206,TRAF3IP3,TRAF5,USH2A,VASH2 chr1 209508733 209508806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209512331 209552641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209517578 209517678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209554196 209577562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 209557753 209594576 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 209566579 209614909 Copy number Lung cancer - 20668451 MIR205,MIR205HG chr1 209566579 209614909 Gain or loss Breast cancer - 20668451 MIR205,MIR205HG chr1 209566579 209614909 Gain or loss Cancer - 20668451 MIR205,MIR205HG chr1 209566579 209614909 Gain or loss Lung cancer - 20668451 MIR205,MIR205HG chr1 209566579 209614909 Gain or loss Ovarian cancer - 20668451 MIR205,MIR205HG chr1 209566579 209614909 Gain or loss Pancreas cancer - 20668451 MIR205,MIR205HG chr1 209566579 209614909 Gain or loss Prostate cancer - 20668451 MIR205,MIR205HG chr1 209566580 209614905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR205,MIR205HG chr1 209566580 209614905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR205,MIR205HG chr1 209578964 209718808 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MIR205,MIR205HG chr1 209594988 209595077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209612983 209835202 Gain and loss Pancreatic cancer SNP array 17952125 CAMK1G,LAMB3,MIR4260 chr1 209617637 209617737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209622768 209638102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209622768 209638102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209642256 209648376 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr1 209650783 209650883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209656990 209657899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209682219 209682923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209717404 209732882 Copy number Autism exome sequencing 22495311 NOT_FOUND chr1 209717405 209732882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209717405 209732882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 209718001 209953000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMK1G,G0S2,HSD11B1,LAMB3,MIR4260,TRAF3IP3 chr1 209736379 209736479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209746781 209746865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209774124 209807232 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAMK1G,LAMB3,MIR4260 chr1 209776725 210517608 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf74,CAMK1G,DIEXF,G0S2,HHAT,HSD11B1,IRF6,LAMB3,MIR4260,SERTAD4,SERTAD4-AS1,SYT14,TRAF3IP3 chr1 209776725 210517608 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf74,CAMK1G,DIEXF,G0S2,HHAT,HSD11B1,IRF6,LAMB3,MIR4260,SERTAD4,SERTAD4-AS1,SYT14,TRAF3IP3 chr1 209807505 209807586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMB3 chr1 209815006 209818722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMB3 chr1 209815006 209818722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMB3 chr1 20981615 23221318 Deletion Normal Arbitrated Peel-off 21527027 ALPL,C1QA,C1QB,C1QC,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EPHA8,EPHB2,HP1BP3,HSPG2,KIF17,LDLRAD2,LINC00339,LOC100506801,MIR4253,MIR4684,NBPF3,RAP1GAP,SH2D5,USP48,WNT4,ZBTB40 chr1 20981615 23221318 Deletion Normal GeneGISTIC 21527027 ALPL,C1QA,C1QB,C1QC,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EPHA8,EPHB2,HP1BP3,HSPG2,KIF17,LDLRAD2,LINC00339,LOC100506801,MIR4253,MIR4684,NBPF3,RAP1GAP,SH2D5,USP48,WNT4,ZBTB40 chr1 20981615 23221318 Deletion Normal Standard peel-off 21527027 ALPL,C1QA,C1QB,C1QC,CDC42,CELA3A,CELA3B,DDOST,ECE1,EIF4G3,EPHA8,EPHB2,HP1BP3,HSPG2,KIF17,LDLRAD2,LINC00339,LOC100506801,MIR4253,MIR4684,NBPF3,RAP1GAP,SH2D5,USP48,WNT4,ZBTB40 chr1 209817167 209817267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMB3 chr1 209837482 209837581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 209893421 209893514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD11B1 chr1 209896701 209896801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSD11B1 chr1 209900154 209901242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD11B1 chr1 209902737 209915590 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 HSD11B1 chr1 209902737 209915590 Gain or loss Breast cancer - 20668451 HSD11B1 chr1 209902737 209915590 Gain or loss Cancer - 20668451 HSD11B1 chr1 209902737 209915590 Gain or loss Lung cancer - 20668451 HSD11B1 chr1 209902737 209915590 Gain or loss Ovarian cancer - 20668451 HSD11B1 chr1 209902737 209915590 Gain or loss Pancreas cancer - 20668451 HSD11B1 chr1 209902737 209915590 Gain or loss Prostate cancer - 20668451 HSD11B1 chr1 209902738 209915583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSD11B1 chr1 209902738 209915583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD11B1 chr1 209947142 209947242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAF3IP3 chr1 209976966 210010046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIEXF,IRF6 chr1 209984869 210000992 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 209984869 210014371 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DIEXF chr1 209984869 210019514 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DIEXF chr1 209984869 210037752 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DIEXF chr1 209984952 210070737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIEXF chr1 209984952 210070737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIEXF chr1 209990455 209990814 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 100000000 102400000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ACTR6,ANKS1B,ANO4,ARL1,CHPT1,DEPDC4,DRAM1,FAM71C,GAS2L3,GNPTAB,GOLGA2P5,MIR1827,MYBPC1,NR1H4,SCYL2,SLC17A8,SLC5A8,SPIC,SYCP3,UHRF1BP1L,UTP20 chr12 100000000 102400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR6,ANKS1B,ANO4,ARL1,CHPT1,DEPDC4,DRAM1,FAM71C,GAS2L3,GNPTAB,GOLGA2P5,MIR1827,MYBPC1,NR1H4,SCYL2,SLC17A8,SLC5A8,SPIC,SYCP3,UHRF1BP1L,UTP20 chr12 10000000 12600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 12600000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 12600000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 12600000 Deletion Normal - 22101487 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 12600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 12600000 Gain Squamous cell cancer array-CGH 19607727 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 12600000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 12600000 Loss Prostate cancer Array CGH 16573809 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 12600000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 14800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 APOLD1,ATF7IP,BCL2L14,C12orf36,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CREBL2,CSDA,DDX47,DUSP16,EMP1,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,KIAA1467,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC100506314,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,OLR1,PLBD1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,RPL13AP20,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10000000 14800000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 APOLD1,ATF7IP,BCL2L14,C12orf36,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC7A,CLEC9A,CREBL2,CSDA,DDX47,DUSP16,EMP1,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,KIAA1467,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF2,KLRK1,LOC100506314,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,OLR1,PLBD1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,RPL13AP20,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 100000 32700000 Gain Acute lymphoblastic leukemia - 21339820 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 100026215 100053317 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKS1B,FAM71C chr12 100036863 100061343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKS1B,FAM71C chr12 100052034 100106457 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100073410 100128120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 100073410 100128120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 100074124 100128147 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ANKS1B chr12 100095517 100095623 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100117180 100117286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 100138212 100138312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 10015281 10039559 Gain and loss Pancreatic cancer SNP array 17952125 CLEC2B,KLRF2 chr12 10015281 10062347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC2B,KLRF2 chr12 10015281 10062347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC2B,KLRF2 chr12 100163912 100164062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 100176385 100282861 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100194220 100194303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 100194224 100194299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr1 210019760 210098187 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 DIEXF chr12 100198036 100304528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 100198036 100304528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 100280435 100281088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKS1B chr12 100291702 100291802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 100292617 100304040 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr1 210029304 210029346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIEXF chr12 100307603 100307704 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100307603 100307705 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100311054 100325703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 100311054 100325703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr1 210031684 210032451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 210032076 210032371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 210032078 210032371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100329266 100329368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 100330420 101181760 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTR6,ANKS1B,DEPDC4,GAS2L3,GOLGA2P5,MIR1827,NR1H4,SCYL2,SLC17A8,UHRF1BP1L chr12 100343071 100343176 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100347520 100347620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 10035306 10051707 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLRF2 chr1 210035958 210035993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 100362951 100363066 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100362953 100363063 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100364734 100364841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 100368586 100368692 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 10036931 10043166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLRF2 chr12 10036931 10043166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLRF2 chr12 10036931 10057290 Gain and loss Pancreatic cancer SNP array 17952125 KLRF2 chr12 100371667 100383239 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 100377328 100377425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 100384614 100384729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100390249 100390355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10039392 10039492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLRF2 chr12 100394788 100404900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100394788 100404900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100396798 100396848 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 100401381 100434154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UHRF1BP1L chr1 210042982 210043069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100453144 100769604 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR6,DEPDC4,GOLGA2P5,MIR1827,SCYL2,SLC17A8,UHRF1BP1L chr12 1004613 1005849 Loss Normal 244K array 17666407 WNK1 chr12 100483009 100619071 Duplication Normal Affymetrix 6.0 microarrays 20967226 ACTR6,GOLGA2P5,MIR1827,UHRF1BP1L chr12 100491215 100582126 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA2P5,UHRF1BP1L chr1 210050603 210050643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 100512878 100603789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTR6,GOLGA2P5,MIR1827,UHRF1BP1L chr12 100512878 100603789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR6,GOLGA2P5,MIR1827,UHRF1BP1L chr12 100516963 101566034 LOH Normal High-resolution SNP genotyping 21211785 ACTR6,ANO4,DEPDC4,GAS2L3,GOLGA2P5,MIR1827,NR1H4,SCYL2,SLC17A8,SLC5A8,UHRF1BP1L chr12 100530189 100530289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UHRF1BP1L chr12 10054493 10062431 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 21005559 21375927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF4G3,HP1BP3,KIF17,SH2D5 chr1 21005559 21375927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF4G3,HP1BP3,KIF17,SH2D5 chr1 21005560 21375927 Deletion Intellectual disability 100k SNP Array 21811512 EIF4G3,HP1BP3,KIF17,SH2D5 chr12 100592665 100616330 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACTR6 chr12 100593885 100625314 Gain and loss Pancreatic cancer SNP array 17952125 ACTR6 chr12 100615548 100646977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTR6,DEPDC4 chr12 100615548 100646977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR6,DEPDC4 chr12 100616054 100616161 Gain and loss Pancreatic cancer SNP array 17952125 ACTR6 chr12 100616054 100616162 Gain and loss Pancreatic cancer SNP array 17952125 ACTR6 chr12 100622338 100634078 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 100624895 100635715 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 100626538 100631217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 100626865 100631254 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 1006308 100748763 Copy number Autism exome sequencing 22495311 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,ABCC9,ABCD2,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALG10,ALG10B,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2B1,ATP5B,ATP5G2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BTG1,C12orf10,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf44,C12orf5,C12orf50,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf74,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC59,CCDC65,CCDC91,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLLU1,CLLU1OS,CLSTN3,CMAS,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COX14,CPM,CPNE8,CPSF6,CRADD,CREBL2,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DENND5B,DENND5B-AS1,DEPDC4,DERA,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DSTNP2,DTX3,DUSP16,DUSP6,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM186A,FAM186B,FAM19A2,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ41278,FMNL3,FOXJ2,FOXM1,FRS2,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GDF11,GDF3,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLYCAM1,GNB3,GNS,GOLGA2P5,GOLT1B,GPD1,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HDAC7,HEBP1,HELB,HIGD1C,HIST4H4,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,HTR7P1,IAPP,IFFO1,IFLTD1,IFNG,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,ING4,INHBC,INHBE,IPO8,IRAK3,IRAK4,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KERA,KIAA0528,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LIMA1,LIN7A,LINC00477,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100130776,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100292680,LOC100335030,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100506844,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC144486,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338817,LOC374443,LOC389634,LOC400027,LOC400043,LOC642846,LOC643339,LOC643770,LOC728084,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3649,MIR3685,MIR3913-1,MIR3913-2,MIR3974,MIR4302,MIR4303,MIR4698,MIR4699,MIR4701,MIR492,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR920,MIRLET7I,MKRN9P,MLF2,MLL2,MMP19,MON2,MRPL42,MRPL51,MRPS35,MRS2P2,MSRB3,MUCL1,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NOP2,NPFF,NR2C1,NR4A1,NRIP2,NTF3,NTN4,NTS,NUDT4,NUDT4P1,NUP107,NXPH4,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,PA2G4,PAN2,PARP11,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMEL,POC1B,POC1B-GALNT4,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1R12A,PPP1R1A,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PTGES3,PTHLH,PTMS,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PYROXD1,PZP,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAP1B,RAPGEF3,RARG,RASSF3,RASSF8,RASSF9,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RHEBL1,RHNO1,RIMKLB,RMST,RND1,RNF41,RNU6-19,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL13P5,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SENP1,SHMT2,SKP1P2,SLC11A2,SLC15A5,SLC16A7,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SPSB2,SRGAP1,SSPN,ST8SIA1,STAC3,STAT2,STAT6,STK38L,STRAP,STYK1,SUOX,SYT1,SYT10,TAC3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TEAD4,TENC1,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMEM106C,TMEM117,TMEM19,TMEM194A,TMEM198B,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPH2,TPI1,TRHDE,TRHDE-AS1,TROAP,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,UBE2N,UHRF1BP1L,USP15,USP44,USP5,VAMP1,VDR,VEZT,VWF,WBP11,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF705A,ZNF740 chr12 100637717 100637827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100641746 100727100 Gain and loss Pancreatic cancer SNP array 17952125 DEPDC4,SCYL2 chr12 100646557 100657378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEPDC4 chr12 100646557 100657378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEPDC4 chr12 100646637 100646841 Gain Autism 1M Ailent CGH whole-genome array 21865298 DEPDC4 chr12 10065263 10065340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 100661652 100661755 Gain and loss Pancreatic cancer SNP array 17952125 SCYL2 chr12 100663407 100748763 Microduplication or deletion Mucolipidosis types II RT-PCR 19634183 SCYL2 chr12 100663409 100748763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCYL2 chr12 100663409 100748763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCYL2 chr12 100668757 100700909 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCYL2 chr12 100676060 100676150 Gain and loss Pancreatic cancer SNP array 17952125 SCYL2 chr12 100676060 100676175 Gain and loss Pancreatic cancer SNP array 17952125 SCYL2 chr12 100683315 100683418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCYL2 chr12 100686061 100686160 Gain and loss Pancreatic cancer SNP array 17952125 SCYL2 chr12 100692656 100692782 Gain and loss Pancreatic cancer SNP array 17952125 SCYL2 chr12 100697723 100697838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCYL2 chr12 100707724 100707823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCYL2 chr12 100714319 100714427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCYL2 chr12 1007174 1472958 Gain and loss Pancreatic cancer SNP array 17952125 ERC1,RAD52,WNK1 chr12 100733064 100733154 Gain and loss Pancreatic cancer SNP array 17952125 SCYL2 chr12 100739637 100739737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 10074543 10109832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC12A,CLEC2A chr12 10074543 10109832 Gain and loss Pancreatic cancer SNP array 17952125 CLEC12A,CLEC2A chr12 10074543 10109832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC12A,CLEC2A chr12 100748208 100748308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 100754726 100754836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC17A8 chr12 100754727 100754817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC17A8 chr12 100760000 108960000 Loss Breast cancer aCGH 21509527 ALDH1L2,ANO4,APPL2,ARL1,ASCL1,ASCL4,BTBD11,C12orf23,C12orf42,C12orf45,C12orf73,C12orf75,CCDC53,CHPT1,CHST11,CKAP4,CMKLR1,CRY1,DRAM1,EID3,FICD,GAS2L3,GLT8D2,GNN,GNPTAB,HCFC2,HSP90B1,IGF1,ISCU,KIAA1033,LINC00485,LOC100287944,LOC100505978,LOC728739,MIR3652,MIR3922,MTERFD3,MYBPC1,NFYB,NR1H4,NT5DC3,NUAK1,NUP37,PAH,PARPBP,PMCH,POLR3B,PRDM4,PWP1,RFX4,RIC8B,SART3,SLC17A8,SLC41A2,SLC5A8,SPIC,STAB2,SYCP3,TCP11L2,TDG,TXNRD1,UTP20,WSCD2 chr12 100767984 100768047 Gain and loss Pancreatic cancer SNP array 17952125 SLC17A8 chr12 100773943 100819857 Gain and loss Pancreatic cancer SNP array 17952125 SLC17A8 chr12 100781564 100781692 Gain and loss Pancreatic cancer SNP array 17952125 SLC17A8 chr12 100789647 100789710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC17A8 chr12 100795236 100841530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC17A8 chr12 100795236 100841530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC17A8 chr12 100803227 100803355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC17A8 chr12 100818395 100837496 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 100823670 100823727 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 100824027 100824090 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 100825210 100830939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100838192 100838293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 100845333 100845390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100845690 100845753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 100854383 101266700 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANO4,GAS2L3,NR1H4 chr12 100909188 100958314 Gain and loss Pancreatic cancer SNP array 17952125 NR1H4 chr12 100930849 100980029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAS2L3,NR1H4 chr12 100951452 100951602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR1H4 chr12 100970442 101014828 Gain and loss Pancreatic cancer SNP array 17952125 GAS2L3 chr12 100992105 101036491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAS2L3 chr12 100992105 101036491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAS2L3 chr12 10100000 11808000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC7A,CLEC9A,CSDA,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LOC338817,MAGOHB,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10100000 12800000 Deletion Acute myeloid leukemia Array-based CGH 17268525 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC7A,CLEC9A,CREBL2,CSDA,DUSP16,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10100000 12800000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC7A,CLEC9A,CREBL2,CSDA,DUSP16,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10100000 12800000 Loss Prostate cancer Array CGH 16461572 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC7A,CLEC9A,CREBL2,CSDA,DUSP16,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10100000 12800000 Loss Prostate cancer Array CGH 16573809 BCL2L14,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC7A,CLEC9A,CREBL2,CSDA,DUSP16,ETV6,GABARAPL1,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10100000 14800000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 APOLD1,ATF7IP,BCL2L14,C12orf36,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC7A,CLEC9A,CREBL2,CSDA,DDX47,DUSP16,EMP1,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,KIAA1467,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LOC100506314,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,OLR1,PLBD1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,RPL13AP20,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 10100000 21300000 Gain Myofibroblastic sarcoma CGH 19369631 AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf60,C12orf69,CAPZA3,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC7A,CLEC9A,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LMO3,LOC100506314,LOC100506393,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,OLR1,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,WBP11 chr12 10100000 26500000 Gain Breast cancer Microarray-based CGH 17133270 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf60,C12orf69,C12orf77,CAPZA3,CASC1,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC7A,CLEC9A,CMAS,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,GABARAPL1,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KIAA1467,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,KRAS,LDHB,LINC00477,LMO3,LOC100506314,LOC100506393,LOC100506451,LOC338817,LOH12CR1,LOH12CR2,LRMP,LRP6,LYRM5,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR4302,MIR613,MIR614,MIR920,OLR1,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,PYROXD1,RASSF8,RECQL,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,WBP11 chr12 101016492 101093758 Gain and loss Pancreatic cancer SNP array 17952125 GAS2L3 chr12 101031036 101031124 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 101038086 101119401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 101038086 101119401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 101052699 101052787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 101092708 101094078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 101113563 101113858 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 101114367 101115744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 101114367 101115744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10113421 10142851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC12A chr12 10113421 10142851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC12A chr12 10113426 10142851 Gain and loss Pancreatic cancer SNP array 17952125 CLEC12A chr12 101135228 101135521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10114346 10142872 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CLEC12A chr1 210115436 210115520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT14 chr12 101181760 107878968 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALDH1L2,ANO4,APPL2,ARL1,ASCL1,BTBD11,C12orf23,C12orf42,C12orf45,C12orf73,C12orf75,CCDC53,CHPT1,CHST11,CKAP4,CRY1,DRAM1,EID3,GLT8D2,GNN,GNPTAB,HCFC2,HSP90B1,IGF1,KIAA1033,LINC00485,LOC100287944,LOC100505978,MIR3652,MIR3922,MTERFD3,MYBPC1,NFYB,NT5DC3,NUAK1,NUP37,PAH,PARPBP,PMCH,POLR3B,RFX4,RIC8B,SLC41A2,SLC5A8,SPIC,STAB2,SYCP3,TCP11L2,TDG,TXNRD1,UTP20 chr12 101188056 101222785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANO4 chr12 101248201 101248286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO4 chr12 101260737 101260837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO4 chr12 10128052 10128288 Gain and loss Pancreatic cancer SNP array 17952125 CLEC12A chr12 10128052 10128352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC12A chr12 10128052 10128374 Gain and loss Pancreatic cancer SNP array 17952125 CLEC12A chr12 101291044 101291194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO4 chr12 101292144 101376791 Gain and loss Pancreatic cancer SNP array 17952125 ANO4 chr12 101313774 101398508 Gain or loss Breast cancer - 20668451 ANO4 chr12 101313774 101398508 Gain or loss Cancer - 20668451 ANO4 chr12 101313774 101398508 Gain or loss Lung cancer - 20668451 ANO4 chr12 101313774 101398508 Gain or loss Ovarian cancer - 20668451 ANO4 chr12 101313774 101398508 Gain or loss Pancreas cancer - 20668451 ANO4 chr12 101313774 101398508 Gain or loss Prostate cancer - 20668451 ANO4 chr12 101313809 101398546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO4 chr12 101313809 101398546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO4 chr12 101316946 101317413 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ANO4 chr12 1013511 1015634 Copy number Autism exome sequencing 22495311 WNK1 chr12 1013584 10198508 Copy number Autism exome sequencing 22495311 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,ATN1,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC12A,CLEC12B,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC9A,CLECL1,CLSTN3,COPS7A,DCP1B,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,ITFG2,KCNA1,KCNA5,KCNA6,KLRB1,KLRF1,KLRF2,KLRG1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100292680,LOC100499405,LOC100507424,LOC283440,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NOP2,NRIP2,NTF3,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRMT8,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TEAD4,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 101389915 101390015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO4 chr12 101393477 101393577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO4 chr12 101450520 101450694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO4 chr1 210146876 210147973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYT14 chr12 101468920 101469020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO4 chr12 101498217 101542709 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANO4 chr12 101521029 101691941 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANO4,SLC5A8,UTP20 chr12 101561045 101589933 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC5A8 chr12 101600000 109000000 Loss and deletion Multiple myeloma Array CGH 16616336 ALDH1L2,APPL2,ARL1,ASCL1,ASCL4,BTBD11,C12orf23,C12orf42,C12orf45,C12orf73,C12orf75,CCDC53,CHPT1,CHST11,CKAP4,CMKLR1,CRY1,DRAM1,EID3,FICD,GLT8D2,GNN,GNPTAB,HCFC2,HSP90B1,IGF1,ISCU,KIAA1033,LINC00485,LOC100287944,LOC100505978,LOC728739,MIR3652,MIR3922,MTERFD3,MYBPC1,NFYB,NT5DC3,NUAK1,NUP37,PAH,PARPBP,PMCH,POLR3B,PRDM4,PWP1,RFX4,RIC8B,SART3,SLC41A2,SLC5A8,SPIC,STAB2,SYCP3,TCP11L2,TDG,TMEM119,TXNRD1,UTP20,WSCD2 chr12 101600000 133851895 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AACS,ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf23,C12orf42,C12orf43,C12orf45,C12orf49,C12orf52,C12orf65,C12orf73,C12orf75,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CRY1,CUX2,DAO,DDX51,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DYNLL1,EID3,EIF2B1,EP400,EP400NL,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBRSL1,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GALNT9,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA3,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IL31,IQCD,ISCU,KCTD10,KDM2B,KIAA1033,KNTC1,KSR2,LHX5,LINC00173,LINC00485,LINC00507,LOC100128554,LOC100130238,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC728739,LRCOL1,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3612,MIR3652,MIR3908,MIR3922,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NFYB,NOC4L,NOS1,NT5DC3,NUAK1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX2,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PGAM5,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PMCH,POLE,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PUS1,PWP1,PXMP2,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC24A6,SLC41A2,SLC5A8,SNORA49,SNRNP35,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,TXNRD1,UBC,UBE3B,ULK1,UNC119B,UNG,USP30,USP30-AS1,UTP20,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 101605687 101605787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 10160649 10174107 Gain and loss Pancreatic cancer SNP array 17952125 CLEC12B chr12 10160669 10174135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC12B chr12 10160669 10174135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC12B chr1 210161621 210186495 Gain Normal Birdsuite, version 1.5.2 22087296 SYT14 chr1 210165630 210167156 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYT14 chr12 10165851 10165951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC12B chr12 101661485 101661577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 101673905 101685205 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 UTP20 chr12 101707496 101707596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UTP20 chr12 101734571 101813848 Gain and loss Pancreatic cancer SNP array 17952125 ARL1,UTP20 chr12 101753501 101753680 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UTP20 chr12 101756234 101835511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL1,UTP20 chr12 101756234 101835511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL1,UTP20 chr12 101759001 103471500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARL1,ASCL1,CCDC53,CHPT1,DRAM1,GNPTAB,IGF1,LINC00485,MYBPC1,NUP37,PAH,PARPBP,PMCH,SPIC,SYCP3,UTP20 chr1 210176214 210176601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT14 chr12 101786902 101801572 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ARL1 chr12 101809017 102037277 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 MYBPC1,SPIC chr1 210181313 210275507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT14 chr1 210181313 210275507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT14 chr1 210181320 210275507 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 SYT14 chr12 101839659 102512025 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC53,CHPT1,DRAM1,GNPTAB,MYBPC1,NUP37,SPIC,SYCP3 chr12 101853931 101856754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10186468 16521376 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf60,C12orf69,CDKN1B,CLEC1A,CLEC7A,CLEC9A,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LOC100506314,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,OLR1,PDE6H,PLBD1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,RERG,RNU6-19,RPL13AP20,SLC15A5,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,WBP11 chr12 101875594 101878417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPIC chr12 101875594 101878417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPIC chr12 102012379 102012469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYBPC1 chr12 10202171 10216004 Gain and loss Pancreatic cancer SNP array 17952125 CLEC9A chr12 10202171 10216057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC9A chr12 10202171 10216057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC9A chr12 102045052 102078901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYBPC1 chr12 102077060 102077131 Gain and loss Pancreatic cancer SNP array 17952125 MYBPC1 chr12 102125488 104828077 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ASCL1,C12orf42,C12orf73,CCDC53,DRAM1,EID3,GLT8D2,GNN,GNPTAB,HCFC2,HSP90B1,IGF1,LINC00485,MIR3652,NFYB,NT5DC3,NUP37,PAH,PARPBP,PMCH,STAB2,SYCP3,TDG,TXNRD1 chr12 1021479 1192707 Substitutions and indels small cell lung cancer array-CGH 20016488 ERC1,RAD52 chr12 102191432 102191532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNPTAB chr12 102195054 102413876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC53,DRAM1,GNPTAB chr12 102195054 102413876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC53,DRAM1,GNPTAB chr12 102198188 102392213 Gain and loss Pancreatic cancer SNP array 17952125 DRAM1,GNPTAB chr12 10220000 23050000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf39,C12orf60,C12orf69,CAPZA3,CDKN1B,CLEC1A,CLEC7A,CMAS,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,GABARAPL1,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,KCNJ8,KIAA0528,KIAA1467,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,LDHB,LMO3,LOC100506314,LOC100506393,LOC338817,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,OLR1,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,PYROXD1,RECQL,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,ST8SIA1,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,WBP11 chr12 102225812 102225904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 10222824 10235667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC1A chr12 10222824 10235667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC1A chr12 10222877 10235667 Gain and loss Pancreatic cancer SNP array 17952125 CLEC1A chr12 10233994 10234203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC1A chr12 10234193 10234415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC1A chr12 102400000 107500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALDH1L2,APPL2,ASCL1,C12orf23,C12orf42,C12orf45,C12orf73,C12orf75,CCDC53,CHST11,CKAP4,CRY1,EID3,GLT8D2,GNN,HCFC2,HSP90B1,IGF1,KIAA1033,LINC00485,LOC100287944,LOC100505978,MIR3652,MIR3922,MTERFD3,NFYB,NT5DC3,NUAK1,NUP37,PAH,PARPBP,PMCH,POLR3B,RFX4,RIC8B,SLC41A2,STAB2,TCP11L2,TDG,TXNRD1 chr12 102400000 107500000 Loss Glioblastoma multiforme aCGH 21080181 ALDH1L2,APPL2,ASCL1,C12orf23,C12orf42,C12orf45,C12orf73,C12orf75,CCDC53,CHST11,CKAP4,CRY1,EID3,GLT8D2,GNN,HCFC2,HSP90B1,IGF1,KIAA1033,LINC00485,LOC100287944,LOC100505978,MIR3652,MIR3922,MTERFD3,NFYB,NT5DC3,NUAK1,NUP37,PAH,PARPBP,PMCH,POLR3B,RFX4,RIC8B,SLC41A2,STAB2,TCP11L2,TDG,TXNRD1 chr12 1024188 8224844 Copy number Lung cancer paired-end sequencing 18438408 ACRBP,ACSM4,ADIPOR2,AKAP3,ANO2,APOBEC1,ATN1,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD9,CDCA3,CHD4,CLEC4C,CLSTN3,COPS7A,DCP1B,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,ITFG2,KCNA1,KCNA5,KCNA6,LAG3,LEPREL2,LOC100271702,LOC100292680,LOC100507424,LOC283440,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NOP2,NRIP2,NTF3,PARP11,PEX5,PHB2,PIANP,PLEKHG6,PRMT8,PTMS,PTPN6,RAD51AP1,RAD52,RBP5,RHNO1,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TEAD4,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNT5B,ZNF384 chr12 102465001 102566200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NUP37,PARPBP chr12 102478300 102478300 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NUP37 chr12 102488356 102488489 Gain and loss Pancreatic cancer SNP array 17952125 NUP37 chr12 102505181 102684635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP37,PARPBP,PMCH chr12 102505181 102684635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP37,PARPBP,PMCH chr12 102510020 102510151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP37 chr12 102532569 102577331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PARPBP chr12 102566201 102743300 Copy number Normal ReadDepth: A Parallel R Package 21305028 PARPBP,PMCH chr12 10256703 10266989 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10256755 10266991 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr12 10256756 10266989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10256756 10266989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 102570224 102662972 Gain and loss Pancreatic cancer SNP array 17952125 PARPBP,PMCH chr12 102574163 102609235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PARPBP,PMCH chr12 102617188 102617289 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 102638851 102638952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 210265526 210265647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT14 chr12 1026568 1469808 Copy number Lung cancer paired-end sequencing 18438408 ERC1,RAD52 chr12 102668556 102737251 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10269001 10270000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC7A chr12 102690219 102759064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 102690219 102759064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 102690890 104130302 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASCL1,C12orf42,IGF1,LINC00485,PAH,STAB2 chr12 102690890 104686535 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASCL1,C12orf42,C12orf73,GLT8D2,GNN,HCFC2,HSP90B1,IGF1,LINC00485,MIR3652,NFYB,NT5DC3,PAH,STAB2,TDG,TXNRD1 chr12 10270001 10538000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC7A,GABARAPL1,KLRC4-KLRK1,KLRD1,KLRK1,OLR1,TMEM52B chr12 102714721 102714769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 102735971 102736071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 102739995 102762787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 102750883 102751033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 210275754 210344809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SYT14 chr1 210275754 210344809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT14 chr1 210275754 210344809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT14 chr12 102774898 102800496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF1 chr12 102817524 102817850 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 IGF1 chr12 102826761 102843907 Gain and loss Pancreatic cancer SNP array 17952125 IGF1 chr12 102832886 102847951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF1 chr12 102848290 102865809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF1 chr12 102848290 102865809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF1 chr12 102862107 102885009 Gain and loss Pancreatic cancer SNP array 17952125 IGF1 chr12 102869112 102875051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF1 chr12 102881907 102882021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 102883741 102906785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 102883741 102906785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 102883746 102906786 Copy number Lung cancer - 20668451 NOT_FOUND chr12 102883746 102906786 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 102883746 102906786 Gain or loss Cancer - 20668451 NOT_FOUND chr12 102883746 102906786 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 102883746 102906786 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 102883746 102906786 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 102883746 102906786 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 102885232 102960428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 102889276 102889376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 102900780 102903533 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr12 102902827 102903508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 102903019 102903112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 102903637 102904855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 102906896 102968045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 102906896 102968045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 210291703 210291971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT14 chr12 102926973 102928685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 1029433 1050209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAD52 chr12 102948649 102950368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 210295812 210295912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT14 chr12 102960794 102999710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 102982439 103021373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 102982439 103021373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10298680 10298988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 103013325 103034507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 103013698 103015170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 103021481 103021570 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 103021481 103021587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 103034988 103056170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103034988 103056170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103043144 103043264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103053378 103053760 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 103057450 103057543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103075543 103075638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2103093 2105174 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCZ chr1 2103093 2105174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCZ chr12 1031213 1031303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAD52 chr12 103161554 103162084 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 103183181 103183819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103183181 103183819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103183182 103183799 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 103183194 103246522 Gain and loss Pancreatic cancer SNP array 17952125 LINC00485,PAH chr12 103204857 103268185 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00485,PAH chr12 103204857 103268185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00485,PAH chr12 103204857 103268185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00485,PAH chr12 103204935 103206408 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LINC00485 chr12 103221678 103223112 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 103254821 103256577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAH chr12 103256773 103256873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAH chr12 103258313 103258413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAH chr12 103264636 103264721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAH chr12 103298748 103298848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAH chr12 103299901 103730000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASCL1,C12orf42,PAH chr12 103318592 103318692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103329994 103330094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103353243 103654350 Gain and loss Pancreatic cancer SNP array 17952125 ASCL1 chr12 103361431 103398039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 103374906 103676013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103374906 103676013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 210339433 210339640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10339905 10385475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABARAPL1,TMEM52B chr12 103440263 103440421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 210346440 210606614 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HHAT,SERTAD4,SERTAD4-AS1 chr12 103472449 103482908 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 103493296 103494799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 103500122 103500216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 10351684 10359227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10351684 10359227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10351684 10359983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 103517847 103517951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103533388 103533488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103675501 103916500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf42 chr12 103700832 103824900 Gain and loss Pancreatic cancer SNP array 17952125 C12orf42 chr12 10372168 10414224 Copy number loss Normal High-resolution SNP genotyping 21211785 GABARAPL1 chr12 103722495 103846563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf42 chr12 103722495 103846563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf42 chr12 103748069 103748160 Gain and loss Pancreatic cancer SNP array 17952125 C12orf42 chr12 103769732 103769823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf42 chr12 103769732 103769826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf42 chr12 103800000 109000000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 ALDH1L2,APPL2,ASCL4,BTBD11,C12orf23,C12orf42,C12orf45,C12orf73,C12orf75,CHST11,CKAP4,CMKLR1,CRY1,EID3,FICD,GLT8D2,GNN,HCFC2,HSP90B1,ISCU,KIAA1033,LOC100287944,LOC100505978,LOC728739,MIR3652,MIR3922,MTERFD3,NFYB,NT5DC3,NUAK1,POLR3B,PRDM4,PWP1,RFX4,RIC8B,SART3,SLC41A2,STAB2,TCP11L2,TDG,TMEM119,TXNRD1,WSCD2 chr12 103865892 103897371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C12orf42 chr12 103867031 103867130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf42 chr12 103870591 103887253 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C12orf42 chr12 103872994 103874272 Gain and loss Pancreatic cancer SNP array 17952125 C12orf42 chr12 103882582 103890957 Gain and loss Pancreatic cancer SNP array 17952125 C12orf42 chr12 103893183 103897675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 103894657 103895935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103904227 103912635 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 103904228 103912635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103904228 103912635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 103907103 103907203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103914589 103914666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103916501 103917500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 103917501 105223500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf73,CHST11,EID3,GLT8D2,GNN,HCFC2,HSP90B1,MIR3652,MIR3922,NFYB,NT5DC3,SLC41A2,STAB2,TDG,TXNRD1 chr12 103930533 103980703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 103936310 103936410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103937693 104002471 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 STAB2 chr12 103942332 104002366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAB2 chr12 103942332 104002366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAB2 chr12 103943993 103944093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103956599 103956699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 103960754 103960854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 104003263 104003353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAB2 chr12 104003959 104065371 Gain and loss Pancreatic cancer SNP array 17952125 STAB2 chr12 104025622 104087034 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 STAB2 chr12 104025622 104087034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAB2 chr12 104025622 104087034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAB2 chr12 10402872 10454012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10402872 10454012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 104059610 104059710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAB2 chr12 104068341 104068441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAB2 chr12 104069542 104132475 Gain and loss Pancreatic cancer SNP array 17952125 STAB2 chr12 104084201 105045600 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf73,CHST11,EID3,GLT8D2,GNN,HCFC2,HSP90B1,MIR3652,MIR3922,NFYB,NT5DC3,STAB2,TDG,TXNRD1 chr12 104091205 104154138 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 STAB2 chr12 104091205 104154138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAB2 chr12 104091205 104154138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAB2 chr12 10416857 10454012 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 104205111 104205729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NT5DC3 chr12 104226881 104267762 Gain and loss Pancreatic cancer SNP array 17952125 GNN,NT5DC3 chr12 104281922 104282022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNN chr12 104297645 104297968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNN chr12 104308964 104344350 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C12orf73,GNN,HSP90B1,MIR3652 chr12 104310786 104310925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNN chr12 104321576 104321676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNN chr12 104340506 105849778 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDH1L2,APPL2,C12orf45,C12orf73,C12orf75,CHST11,EID3,GLT8D2,HCFC2,HSP90B1,KIAA1033,MIR3922,NFYB,SLC41A2,TDG,TXNRD1 chr12 104438471 104438503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLT8D2 chr12 10443899 10489751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLRD1 chr12 10451250 10453623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10451250 10453623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10456188 10464461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLRD1 chr12 10456188 10464461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLRD1 chr12 10457356 10495015 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KLRD1 chr12 10457644 10504166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLRD1 chr12 10459221 10487986 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KLRD1 chr12 10460888 10483693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLRD1 chr12 10462673 10490066 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 KLRD1 chr12 10464047 10490286 Loss Normal 244K array 17666407 KLRD1 chr12 104656797 104656897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TXNRD1 chr12 104657615 104657715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TXNRD1 chr12 104724992 104725052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TXNRD1 chr12 10474477 10479859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10474477 10479859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10474634 10487386 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 21047616 21114833 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 HP1BP3,SH2D5 chr12 104798045 104798145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 104808649 104808749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 104838405 104838505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 104856274 104888198 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CHST11 chr12 10489907 10498482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10489909 10497214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10489909 10497214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 104909983 104932273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHST11 chr12 104943402 104943486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHST11 chr12 104950165 105709317 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDH1L2,APPL2,C12orf45,CHST11,KIAA1033,MIR3922,SLC41A2 chr12 104959592 105036278 Gain and loss Pancreatic cancer SNP array 17952125 CHST11,MIR3922 chr12 104981254 105057941 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CHST11,MIR3922 chr12 104981255 105057941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHST11,MIR3922 chr12 104981255 105057941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST11,MIR3922 chr12 104984779 104984878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST11 chr1 21049866 21049961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH2D5 chr12 104990513 104990613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST11 chr12 105015032 105015101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST11 chr12 105027161 106082034 LOH Normal High-resolution SNP genotyping 21211785 ALDH1L2,APPL2,C12orf45,C12orf75,CHST11,KIAA1033,SLC41A2 chr12 105027304 125446051 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,APPL2,ARL6IP4,ARPC3,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BTBD11,C12orf23,C12orf43,C12orf45,C12orf49,C12orf52,C12orf65,C12orf75,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CHST11,CIT,CKAP4,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CRY1,CUX2,DAO,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FOXN4,GATC,GCN1L1,GIT2,GLTP,GPN3,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KIAA1033,KNTC1,KSR2,LHX5,LINC00173,LOC100131138,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC144742,LOC338799,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3908,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MORN3,MPHOSPH9,MSI1,MTERFD3,MVK,MYL2,MYO1H,NAA25,NCOR2,NOS1,NUAK1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PLA2G1B,PLBD2,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SH2B3,SIRT4,SLC24A6,SLC41A2,SNRNP35,SPPL3,SRRM4,SRSF9,SSH1,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBC,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 105029029 105029129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST11 chr1 2105033 2105121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCZ chr1 210503448 210503613 Gain and loss Pancreatic cancer SNP array 17952125 HHAT chr1 210503554 210503613 Gain and loss Pancreatic cancer SNP array 17952125 HHAT chr12 105134922 105144375 Gain and loss Pancreatic cancer SNP array 17952125 CHST11 chr12 105155933 105165843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 105169345 105169445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 105179173 105179233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 105194888 105195503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 105199048 105243257 Gain and loss Pancreatic cancer SNP array 17952125 SLC41A2 chr12 105220711 105264920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC41A2 chr12 105220711 105264920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC41A2 chr12 105223501 105498500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH1L2,C12orf45,SLC41A2 chr12 105253956 105406442 Gain and loss Pancreatic cancer SNP array 17952125 C12orf45,SLC41A2 chr1 210525501 210601828 Gain or loss Breast cancer - 20668451 HHAT chr1 210525501 210601828 Gain or loss Cancer - 20668451 HHAT chr1 210525501 210601828 Gain or loss Lung cancer - 20668451 HHAT chr1 210525501 210601828 Gain or loss Ovarian cancer - 20668451 HHAT chr1 210525501 210601828 Gain or loss Pancreas cancer - 20668451 HHAT chr1 210525501 210601828 Gain or loss Prostate cancer - 20668451 HHAT chr1 210525502 210601827 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HHAT chr1 210525502 210601827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HHAT chr1 210525502 210601827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHAT chr12 105275619 105428104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH1L2,C12orf45,SLC41A2 chr12 105275619 105428104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH1L2,C12orf45,SLC41A2 chr1 210535701 210541200 Deletion Glioma mate-paired sequence 20126413 HHAT chr12 105360581 105360682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 210537759 210539239 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HHAT chr12 10538001 12307000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L14,CSDA,ETV6,KLRAP1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRK1,LOC338817,LRP6,MAGOHB,MIR1244-1,MIR1244-2,MIR1244-3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 1054000 1075382 Duplication Non-syndromic sensorineural hearing loss References 19212409 RAD52 chr1 210543201 210577957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HHAT chr12 105438364 105438464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALDH1L2 chr12 105438369 105438580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALDH1L2 chr12 105447385 105447467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALDH1L2 chr12 105464393 105464493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALDH1L2 chr12 105479500 105659047 Gain and loss Pancreatic cancer SNP array 17952125 APPL2,KIAA1033 chr1 210549016 210549483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHAT chr12 10549769 10551187 Gain and loss Pancreatic cancer SNP array 17952125 KLRC4-KLRK1 chr12 10549769 10567000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLRC3,KLRC4,KLRC4-KLRK1 chr12 105498501 105506000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA1033 chr12 105500815 105680711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APPL2,KIAA1033 chr12 105500815 105680711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APPL2,KIAA1033 chr12 105506001 105713500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APPL2,KIAA1033 chr12 105531095 105531170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1033 chr12 105551601 105678100 Copy number Normal ReadDepth: A Parallel R Package 21305028 APPL2,KIAA1033 chr1 210558274 210598155 Gain and loss Pancreatic cancer SNP array 17952125 HHAT chr12 105615988 105616071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APPL2 chr12 105645827 105646205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 105670916 105783535 Gain and loss Pancreatic cancer SNP array 17952125 C12orf75 chr12 105692529 105807215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf75 chr12 105692529 105807215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf75 chr12 10570516 10570618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLRC3 chr12 105713501 105810000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf75 chr12 105736884 105736984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf75 chr12 105745895 105745995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf75 chr1 2105777 2122397 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf86,PRKCZ chr1 2105777 2122397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf86,PRKCZ chr1 2105777 2122397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf86,PRKCZ chr12 105783565 105783652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 105797561 105798583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 105810001 105873000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 105830643 105830901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 105830915 105831061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 105852152 105870226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10586647 10603115 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KLRC1,KLRC2 chr12 105873001 105874500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 105873536 105883394 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 105873815 105891889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 105873815 105891889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 105874501 105960500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 105887612 105989792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 105895198 105905059 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 105895199 105905059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 105895199 105905059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 105909275 106011455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 105909275 106011455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 105920000 132100000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AACS,ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ARL6IP4,ARPC3,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf23,C12orf43,C12orf49,C12orf52,C12orf65,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CIT,CKAP4,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CRY1,CUX2,DAO,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GATC,GCN1L1,GIT2,GLT1D1,GLTP,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MORN3,MPHOSPH9,MSI1,MTERFD3,MVK,MYL2,MYO1H,NAA25,NCOR2,NOS1,NUAK1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SH2B3,SIRT4,SLC15A4,SLC24A6,SNRNP35,SPPL3,SRRM4,SRSF9,SSH1,STX2,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBC,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr1 210592781 210592915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHAT chr12 10594755 10595081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 10595958 11113635 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CSDA,KLRAP1,KLRC1,MAGOHB,PRH1,PRH1-PRR4,PRH2,PRR4,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R7,TAS2R8,TAS2R9 chr12 105962501 105991500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 105991501 105999000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 105999001 106010500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 106010501 106012000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 106012001 106234500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 106016211 106016362 Gain Normal 244K array 17666407 NOT_FOUND chr1 210603896 210654860 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HHAT chr1 210604441 210654849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHAT chr12 106057601 108891200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASCL4,BTBD11,C12orf23,CKAP4,CMKLR1,CRY1,LOC100287944,LOC100505978,LOC728739,MTERFD3,NUAK1,POLR3B,PRDM4,PWP1,RFX4,RIC8B,TCP11L2,WSCD2 chr12 106082080 106082175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 210611231 210611331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHAT chr12 106167567 106167638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106185554 106185605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 106189210 106189316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106189230 106189301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106191405 106224810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 10620000 11720000 Loss Acute lymphoblastic leukemia - 21339820 CSDA,KLRAP1,LOC338817,MAGOHB,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 106234501 106239500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 106236848 106577549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUAK1 chr12 106236848 106577549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUAK1 chr12 106270994 106271073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106270999 106271067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106286674 106286774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 106292662 106292736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106319143 106346457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 10632344 10643701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10632344 10643701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10632881 10633050 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 10632922 10633008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 10633039 10643431 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106358337 106358550 Gain Normal 244K array 17666407 NOT_FOUND chr12 106361505 106361565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 106361879 106361979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 210637543 211466127 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 HHAT,KCNH1,RCOR3 chr12 106382790 106382879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106404418 106404542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106404453 106404542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106455543 106455643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 106456052 106456135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 106465560 106498902 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUAK1 chr12 10648061 10657450 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10648061 10657460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10648061 10657460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 210649871 210649971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHAT chr12 106513550 106555886 Gain and loss Pancreatic cancer SNP array 17952125 NUAK1 chr12 106514070 106559177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUAK1 chr12 106523038 106557350 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUAK1 chr12 106526784 106526874 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NUAK1 chr12 106535554 106535644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 106547033 106547134 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106547049 106547134 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106568696 106568799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106576464 106576564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 106582057 106608724 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106603719 106630387 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 106603720 106630387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106603720 106630387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106604501 106678000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CKAP4 chr12 106625416 106625466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 10662804 10717906 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 10662804 10717906 Gain or loss Cancer - 20668451 NOT_FOUND chr12 10662804 10717906 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 10662804 10717906 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 10662804 10717906 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 10662804 10717906 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 106629111 106657381 Gain and loss Pancreatic cancer SNP array 17952125 CKAP4 chr12 10663049 10718158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10663049 10718158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10663049 10718158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106650774 106679044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106650774 106679044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106661074 106662418 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 106670629 106672882 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 106678001 106723000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TCP11L2 chr12 10668134 10712802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 106692292 106694525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106692292 106694525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 106701799 106732176 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCP11L2 chr12 106723001 106727000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TCP11L2 chr12 106727001 106761000 Copy number Normal ReadDepth: A Parallel R Package 21305028 POLR3B,TCP11L2 chr1 210672903 210686343 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HHAT chr1 210672903 210686343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HHAT chr1 210672903 210686343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHAT chr12 106746678 106746993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 106761001 106764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 POLR3B chr12 106764501 106828500 Copy number Normal ReadDepth: A Parallel R Package 21305028 POLR3B chr12 106783265 106816020 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POLR3B chr12 106785969 106811050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POLR3B chr12 106797929 106820081 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POLR3B chr12 106803027 106803127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLR3B chr12 106806598 106806698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLR3B chr12 106828501 106831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 POLR3B chr12 106835001 106917500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100287944,POLR3B chr1 210684795 210684889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHAT chr12 106859798 107070577 Copy number Lung cancer - 20668451 LOC100287944,POLR3B,RFX4 chr12 106859798 107070577 Gain or loss Breast cancer - 20668451 LOC100287944,POLR3B,RFX4 chr12 106859798 107070577 Gain or loss Cancer - 20668451 LOC100287944,POLR3B,RFX4 chr12 106859798 107070577 Gain or loss Lung cancer - 20668451 LOC100287944,POLR3B,RFX4 chr12 106859798 107070577 Gain or loss Ovarian cancer - 20668451 LOC100287944,POLR3B,RFX4 chr12 106859798 107070577 Gain or loss Pancreas cancer - 20668451 LOC100287944,POLR3B,RFX4 chr12 106859798 107070577 Gain or loss Prostate cancer - 20668451 LOC100287944,POLR3B,RFX4 chr12 106896470 107702132 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf23,CRY1,LOC100287944,LOC100505978,MTERFD3,POLR3B,RFX4,RIC8B chr12 106896470 107702132 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf23,CRY1,LOC100287944,LOC100505978,MTERFD3,POLR3B,RFX4,RIC8B chr12 106917501 106919000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100287944 chr12 106919001 107024000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100287944,RFX4 chr12 106956662 106980196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100287944,RFX4 chr12 106968154 106980035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100287944,RFX4 chr12 106989267 107018439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100287944,RFX4 chr12 107025978 107146778 Gain and loss Pancreatic cancer SNP array 17952125 LOC100287944,LOC100505978,RFX4 chr12 10704334 10704506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 107047641 107168441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100287944,LOC100505978,RFX4,RIC8B chr12 107047641 107168441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100287944,LOC100505978,RFX4,RIC8B chr12 107050756 107050856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100287944,RFX4 chr12 107054630 107054682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100287944,RFX4 chr12 107099204 107099278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100287944,RFX4 chr12 107121891 107122074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100287944,RFX4 chr12 107138964 107139064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100287944,RFX4 chr1 210714144 210714234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHAT chr12 107171001 107198500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RIC8B chr12 107177350 107178479 Gain and loss Pancreatic cancer SNP array 17952125 RIC8B chr12 107188085 107189203 Gain and loss Pancreatic cancer SNP array 17952125 RIC8B chr12 107199013 107200142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIC8B chr12 107209476 107257216 Gain or loss Breast cancer - 20668451 RIC8B chr12 107209476 107257216 Gain or loss Cancer - 20668451 RIC8B chr12 107209476 107257216 Gain or loss Lung cancer - 20668451 RIC8B chr12 107209476 107257216 Gain or loss Ovarian cancer - 20668451 RIC8B chr12 107209476 107257216 Gain or loss Pancreas cancer - 20668451 RIC8B chr12 107209476 107257216 Gain or loss Prostate cancer - 20668451 RIC8B chr12 107209477 107257220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIC8B chr12 107209477 107257220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIC8B chr12 107243546 108133298 LOH Normal High-resolution SNP genotyping 21211785 BTBD11,C12orf23,CRY1,MTERFD3,PRDM4,PWP1,RIC8B chr12 107280990 107291734 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RIC8B chr12 107286501 107432500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf23,CRY1,MTERFD3 chr12 10732341 10814387 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 KLRAP1,MAGOHB,STYK1 chr12 107380096 107380196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTERFD3 chr12 107388012 107390354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRY1 chr12 107411518 107415847 Gain and loss Pancreatic cancer SNP array 17952125 CRY1 chr12 107418824 107457404 Gain and loss Pancreatic cancer SNP array 17952125 CRY1 chr12 10742954 10767171 Copy number Lung cancer - 20668451 KLRAP1,MAGOHB chr12 10742954 10767171 Gain or loss Breast cancer - 20668451 KLRAP1,MAGOHB chr12 10742954 10767171 Gain or loss Cancer - 20668451 KLRAP1,MAGOHB chr12 10742954 10767171 Gain or loss Lung cancer - 20668451 KLRAP1,MAGOHB chr12 10742954 10767171 Gain or loss Ovarian cancer - 20668451 KLRAP1,MAGOHB chr12 10742954 10767171 Gain or loss Pancreas cancer - 20668451 KLRAP1,MAGOHB chr12 10742954 10767171 Gain or loss Prostate cancer - 20668451 KLRAP1,MAGOHB chr12 10742956 10767173 Gain and loss Pancreatic cancer SNP array 17952125 KLRAP1,MAGOHB chr12 10742956 10767178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLRAP1,MAGOHB chr12 10742956 10767178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLRAP1,MAGOHB chr12 107432501 107437000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRY1 chr12 107433181 107437510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRY1 chr12 107433181 107437510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRY1 chr12 107437001 107480000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRY1 chr12 107440122 107479295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRY1 chr12 107440122 107479295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRY1 chr12 107444583 110980362 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ACACB,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ASCL4,ATP2A2,BTBD11,C12orf76,CMKLR1,CORO1C,CRY1,DAO,FAM216A,FAM222A,FAM222A-AS1,FICD,FOXN4,GIT2,GLTP,GPN3,IFT81,ISCU,KCTD10,LOC728739,MIR4497,MMAB,MVK,MYO1H,PPTC7,PRDM4,PWP1,RAD9B,SART3,SELPLG,SSH1,SVOP,TCHP,TMEM119,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29,WSCD2 chr12 107454377 107454535 Gain Autism 1M Ailent CGH whole-genome array 21865298 CRY1 chr12 107457706 107465573 Gain and loss Pancreatic cancer SNP array 17952125 CRY1 chr12 107469395 107483876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRY1 chr12 107480001 107481500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRY1 chr12 107480478 107487273 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRY1 chr12 107480512 107487272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRY1 chr12 107480512 107487272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRY1 chr12 107481501 107499000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRY1 chr12 107486093 107494328 Gain and loss Pancreatic cancer SNP array 17952125 CRY1 chr12 107492570 107538292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 210749444 210749685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHAT chr12 107500000 110200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACACB,ALKBH2,ASCL4,BTBD11,CMKLR1,CORO1C,DAO,FAM222A,FAM222A-AS1,FICD,FOXN4,ISCU,KCTD10,LOC728739,MMAB,MVK,MYO1H,PRDM4,PWP1,SART3,SELPLG,SSH1,SVOP,TMEM119,UBE3B,UNG,USP30,USP30-AS1,WSCD2 chr12 107500000 112800000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ACACB,ACAD10,ADAM1A,ALDH2,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ASCL4,ATP2A2,ATXN2,BRAP,BTBD11,C12orf76,CCDC63,CMKLR1,CORO1C,CUX2,DAO,ERP29,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FICD,FOXN4,GIT2,GLTP,GPN3,HECTD4,HVCN1,IFT81,ISCU,KCTD10,LOC100131138,LOC728739,MAPKAPK5,MAPKAPK5-AS1,MIR4497,MMAB,MVK,MYL2,MYO1H,NAA25,PPP1CC,PPTC7,PRDM4,PWP1,RAD9B,SART3,SELPLG,SH2B3,SSH1,SVOP,TCHP,TCTN1,TMEM116,TMEM119,TRAFD1,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29,WSCD2 chr12 107500000 112800000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACACB,ACAD10,ADAM1A,ALDH2,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ASCL4,ATP2A2,ATXN2,BRAP,BTBD11,C12orf76,CCDC63,CMKLR1,CORO1C,CUX2,DAO,ERP29,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FICD,FOXN4,GIT2,GLTP,GPN3,HECTD4,HVCN1,IFT81,ISCU,KCTD10,LOC100131138,LOC728739,MAPKAPK5,MAPKAPK5-AS1,MIR4497,MMAB,MVK,MYL2,MYO1H,NAA25,PPP1CC,PPTC7,PRDM4,PWP1,RAD9B,SART3,SELPLG,SH2B3,SSH1,SVOP,TCHP,TCTN1,TMEM116,TMEM119,TRAFD1,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29,WSCD2 chr12 107500000 119100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACACB,ACAD10,ADAM1A,ALDH2,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ASCL4,ATP2A2,ATXN2,BRAP,BTBD11,C12orf49,C12orf52,C12orf76,CCDC42B,CCDC63,CMKLR1,CORO1C,CUX2,DAO,DDX54,DTX1,ERP29,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FOXN4,GIT2,GLTP,GPN3,HECTD4,HRK,HVCN1,IFT81,IQCD,ISCU,KCTD10,KSR2,LHX5,LINC00173,LOC100131138,LOC728739,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR4472-2,MIR4497,MIR620,MMAB,MVK,MYL2,MYO1H,NAA25,NOS1,OAS1,OAS2,OAS3,PEBP1,PLBD2,PPP1CC,PPTC7,PRDM4,PTPN11,PWP1,RAD9B,RASAL1,RBM19,RFC5,RNFT2,RPH3A,RPL6,SART3,SDS,SDSL,SELPLG,SH2B3,SLC24A6,SSH1,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCTN1,TESC,TMEM116,TMEM119,TPCN1,TRAFD1,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29,VSIG10,WSB2,WSCD2 chr12 107500000 132349534 Copy number Normal - 21701786 AACS,ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ARL6IP4,ARPC3,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf43,C12orf49,C12orf52,C12orf65,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CUX2,DAO,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GATC,GCN1L1,GIT2,GLT1D1,GLTP,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MSI1,MVK,MYL2,MYO1H,NAA25,NCOR2,NOS1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC24A6,SNRNP35,SPPL3,SRRM4,SRSF9,SSH1,STX2,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCTN1,TCTN2,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBC,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 107500000 132349534 Copy number Schizophrenia from references 18923514 AACS,ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ARL6IP4,ARPC3,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf43,C12orf49,C12orf52,C12orf65,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CUX2,DAO,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GATC,GCN1L1,GIT2,GLT1D1,GLTP,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MSI1,MVK,MYL2,MYO1H,NAA25,NCOR2,NOS1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC24A6,SNRNP35,SPPL3,SRRM4,SRSF9,SSH1,STX2,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCTN1,TCTN2,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBC,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 107500000 132349534 Duplication Schizophrenia high-density microarrays 22241247 AACS,ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ARL6IP4,ARPC3,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf43,C12orf49,C12orf52,C12orf65,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CUX2,DAO,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GATC,GCN1L1,GIT2,GLT1D1,GLTP,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MSI1,MVK,MYL2,MYO1H,NAA25,NCOR2,NOS1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC24A6,SNRNP35,SPPL3,SRRM4,SRSF9,SSH1,STX2,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCTN1,TCTN2,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBC,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 107500000 132349534 Gain Cryptorchidism oligo V6.3 21048976 AACS,ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ARL6IP4,ARPC3,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf43,C12orf49,C12orf52,C12orf65,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CUX2,DAO,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GATC,GCN1L1,GIT2,GLT1D1,GLTP,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MSI1,MVK,MYL2,MYO1H,NAA25,NCOR2,NOS1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC24A6,SNRNP35,SPPL3,SRRM4,SRSF9,SSH1,STX2,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCTN1,TCTN2,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBC,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 107500000 132349534 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 AACS,ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ARL6IP4,ARPC3,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf43,C12orf49,C12orf52,C12orf65,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CUX2,DAO,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GATC,GCN1L1,GIT2,GLT1D1,GLTP,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MSI1,MVK,MYL2,MYO1H,NAA25,NCOR2,NOS1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC24A6,SNRNP35,SPPL3,SRRM4,SRSF9,SSH1,STX2,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCTN1,TCTN2,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBC,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 107500000 132349534 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 AACS,ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ARL6IP4,ARPC3,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf43,C12orf49,C12orf52,C12orf65,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CUX2,DAO,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GATC,GCN1L1,GIT2,GLT1D1,GLTP,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MSI1,MVK,MYL2,MYO1H,NAA25,NCOR2,NOS1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC24A6,SNRNP35,SPPL3,SRRM4,SRSF9,SSH1,STX2,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCTN1,TCTN2,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBC,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 107507756 107516023 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 107507756 107516023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 107507756 107516023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 107513251 107516500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 107519311 107520549 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10753052 11373174 LOH Normal High-resolution SNP genotyping 21211785 CSDA,MAGOHB,PRH1,PRH1-PRR4,PRH2,PRR4,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 10753052 11440837 LOH Normal High-resolution SNP genotyping 21211785 CSDA,MAGOHB,PRB3,PRH1,PRH1-PRR4,PRH2,PRR4,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 10753052 11459073 LOH Normal High-resolution SNP genotyping 21211785 CSDA,MAGOHB,PRB3,PRH1,PRH1-PRR4,PRH2,PRR4,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr1 210754001 210755500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HHAT chr12 107540187 107551695 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 107540187 107551797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 107541355 107627761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 107541450 107541809 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 107560501 107648000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 107563020 107649424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 107563020 107649424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 107563020 107649424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10760000 26234000 Amplification Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCAT1,BCL2L14,C12orf36,C12orf39,C12orf60,C12orf69,C12orf77,CAPZA3,CASC1,CDKN1B,CMAS,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,KCNJ8,KIAA0528,KIAA1467,KRAS,LDHB,LINC00477,LMO3,LOC100506314,LOC100506393,LOC100506451,LOC338817,LOH12CR1,LOH12CR2,LRMP,LRP6,LYRM5,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR4302,MIR613,MIR614,MIR920,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,PYROXD1,RASSF8,RECQL,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,ST8SIA1,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,WBP11 chr12 10760000 26234000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCAT1,BCL2L14,C12orf36,C12orf39,C12orf60,C12orf69,C12orf77,CAPZA3,CASC1,CDKN1B,CMAS,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,KCNJ8,KIAA0528,KIAA1467,KRAS,LDHB,LINC00477,LMO3,LOC100506314,LOC100506393,LOC100506451,LOC338817,LOH12CR1,LOH12CR2,LRMP,LRP6,LYRM5,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR4302,MIR613,MIR614,MIR920,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,PYROXD1,RASSF8,RECQL,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,ST8SIA1,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,WBP11 chr12 107617696 111206853 Gain Prostate cancer Array CGH 18632612 ACACB,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ASCL4,ATP2A2,BTBD11,C12orf76,CMKLR1,CORO1C,DAO,FAM216A,FAM222A,FAM222A-AS1,FICD,FOXN4,GIT2,GLTP,GPN3,HVCN1,IFT81,ISCU,KCTD10,LOC728739,MIR4497,MMAB,MVK,MYO1H,PPP1CC,PPTC7,PRDM4,PWP1,RAD9B,SART3,SELPLG,SSH1,SVOP,TCHP,TCTN1,TMEM119,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29,WSCD2 chr12 107634726 107634844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 107634726 107634845 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 107639393 107639478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 107648001 107650500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 107649378 107649478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 107650501 107663000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 107656389 107656509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 107674385 107674513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 107682967 107686012 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 107683437 107753817 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 107686501 107688500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 107696049 107696176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 107705100 107775480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107705100 107775480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107708574 107708624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 107739391 107739461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTBD11 chr12 107754813 107754911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107774001 107775500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTBD11 chr12 107776333 107797163 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 107797986 107818838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107797986 107818838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107803708 107803808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTBD11 chr12 107807124 107835197 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 107815057 107815107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTBD11 chr12 107822677 107822782 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 107822677 107822783 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 107828787 107856860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107828787 107856860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107844340 107844446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107856379 107856464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTBD11 chr12 107945276 108010214 Copy number Lung cancer - 20668451 BTBD11 chr12 107945276 108010214 Gain or loss Breast cancer - 20668451 BTBD11 chr12 107945276 108010214 Gain or loss Cancer - 20668451 BTBD11 chr12 107945276 108010214 Gain or loss Lung cancer - 20668451 BTBD11 chr12 107945276 108010214 Gain or loss Ovarian cancer - 20668451 BTBD11 chr12 107945276 108010214 Gain or loss Pancreas cancer - 20668451 BTBD11 chr12 107945276 108010214 Gain or loss Prostate cancer - 20668451 BTBD11 chr12 107945277 108010214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107945277 108010214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107953111 107986899 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 107960511 107960598 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 107982172 107982290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 107988721 107993965 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 107998135 108011518 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11 chr12 108009640 108271491 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ASCL4,BTBD11,PRDM4,PWP1 chr12 108010379 108015660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 108010379 108015660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 108010936 108011036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTBD11 chr12 108017120 108166887 Gain and loss Pancreatic cancer SNP array 17952125 BTBD11,PRDM4,PWP1 chr12 108019797 108033181 Copy number Lung cancer - 20668451 BTBD11 chr12 108019797 108033181 Gain or loss Breast cancer - 20668451 BTBD11 chr12 108019797 108033181 Gain or loss Cancer - 20668451 BTBD11 chr12 108019797 108033181 Gain or loss Lung cancer - 20668451 BTBD11 chr12 108019797 108033181 Gain or loss Ovarian cancer - 20668451 BTBD11 chr12 108019797 108033181 Gain or loss Pancreas cancer - 20668451 BTBD11 chr12 108019797 108033181 Gain or loss Prostate cancer - 20668451 BTBD11 chr12 108019798 108033181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 108019798 108033181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD11 chr12 108027494 108027594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTBD11 chr12 108038782 108190413 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ASCL4,BTBD11,PRDM4,PWP1 chr12 108043263 108142585 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 BTBD11,PRDM4,PWP1 chr1 210805319 210860739 Gain or loss Breast cancer - 20668451 HHAT,KCNH1 chr1 210805319 210860739 Gain or loss Cancer - 20668451 HHAT,KCNH1 chr1 210805319 210860739 Gain or loss Lung cancer - 20668451 HHAT,KCNH1 chr1 210805319 210860739 Gain or loss Ovarian cancer - 20668451 HHAT,KCNH1 chr1 210805319 210860739 Gain or loss Pancreas cancer - 20668451 HHAT,KCNH1 chr1 210805319 210860739 Gain or loss Prostate cancer - 20668451 HHAT,KCNH1 chr1 210805320 210860740 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HHAT,KCNH1 chr1 210805320 210860740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HHAT,KCNH1 chr1 210805320 210860740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHAT,KCNH1 chr1 210805950 210806011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHAT chr12 108061585 108190411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASCL4,PRDM4,PWP1 chr12 108061585 108190411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASCL4,PRDM4,PWP1 chr12 108110217 108110360 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr12 10813810 10813887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STYK1 chr12 108178504 108209745 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108200167 108231408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108200167 108231408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108233001 108443500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC728739 chr12 108248464 108248563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 108293856 108339143 Gain and loss Pancreatic cancer SNP array 17952125 LOC728739 chr12 108310871 108367824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108310871 108367824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108341092 108348898 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108349181 108377822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108370843 108399538 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 108370843 108399538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108370843 108399538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108378159 108437226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108399821 108458890 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 108399821 108458890 Gain or loss Cancer - 20668451 NOT_FOUND chr12 108399821 108458890 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 108399821 108458890 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 108399821 108458890 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 108399821 108458890 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 108399822 108458887 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 108399822 108458887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108399822 108458887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 210842840 210898868 Gain and loss Pancreatic cancer SNP array 17952125 HHAT,KCNH1 chr12 10845480 10846436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10845480 10846436 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10845480 10846436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108455999 108474022 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108468498 108468636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108468500 108468637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108475332 108497787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108475908 108495741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108475908 108495741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108490163 108490303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108496000 108519450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108496000 108519450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10849917 10850846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10849917 10850846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10849917 10850846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108515578 108515678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 108520767 108520856 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10853003 10853941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSDA chr12 10853003 10853941 Gain and loss Pancreatic cancer SNP array 17952125 CSDA chr12 10853003 10853941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSDA chr12 108542430 108542519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WSCD2 chr12 108560215 108560308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WSCD2 chr12 108563152 108578230 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WSCD2 chr12 108563384 108563708 Gain and loss Pancreatic cancer SNP array 17952125 WSCD2 chr12 108563470 108563708 Gain and loss Pancreatic cancer SNP array 17952125 WSCD2 chr12 108579130 108579230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WSCD2 chr12 108580766 108591933 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WSCD2 chr12 108585051 108585371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WSCD2 chr12 10860887 11606188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CSDA,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 108614910 108671031 Gain and loss Pancreatic cancer SNP array 17952125 WSCD2 chr12 108633001 108666500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WSCD2 chr1 210864439 210866737 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNH1 chr1 210864439 210866737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 210864439 210866737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 108644764 108644860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 108656955 108692682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMKLR1 chr12 108656955 108692682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMKLR1 chr12 108662762 111513070 LOH Normal High-resolution SNP genotyping 21211785 ACACB,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CMKLR1,CORO1C,CUX2,DAO,FAM216A,FAM222A,FAM222A-AS1,FICD,FOXN4,GIT2,GLTP,GPN3,HVCN1,IFT81,ISCU,KCTD10,LOC100131138,MIR4497,MMAB,MVK,MYL2,MYO1H,PPP1CC,PPTC7,RAD9B,SART3,SELPLG,SSH1,SVOP,TCHP,TCTN1,TMEM119,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29 chr12 108666501 108674500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 108674501 108676000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 108676001 108680000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 108683614 108733932 Gain and loss Pancreatic cancer SNP array 17952125 CMKLR1 chr12 108689500 108689658 Gain and loss Pancreatic cancer SNP array 17952125 CMKLR1 chr12 10869211 10870135 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CSDA chr12 10869212 10870135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSDA chr12 10869212 10870135 Gain and loss Pancreatic cancer SNP array 17952125 CSDA chr12 10869212 10870135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSDA chr12 108695839 111752998 LOH Normal High-resolution SNP genotyping 21211785 ACACB,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CMKLR1,CORO1C,CUX2,DAO,FAM216A,FAM222A,FAM222A-AS1,FICD,FOXN4,GIT2,GLTP,GPN3,HVCN1,IFT81,ISCU,KCTD10,LOC100131138,MIR4497,MMAB,MVK,MYL2,MYO1H,PPP1CC,PPTC7,RAD9B,SART3,SELPLG,SSH1,SVOP,TCHP,TCTN1,TMEM119,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29 chr12 108698259 108698359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMKLR1 chr12 108705277 108755595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMKLR1 chr12 108705277 108755595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMKLR1 chr12 108711163 108711321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMKLR1 chr12 108719061 109732505 LOH Normal High-resolution SNP genotyping 21211785 ACACB,ALKBH2,CMKLR1,CORO1C,DAO,FICD,FOXN4,ISCU,SART3,SELPLG,SSH1,SVOP,TMEM119,UNG,USP30,USP30-AS1 chr12 108730315 109781648 LOH Normal High-resolution SNP genotyping 21211785 ACACB,ALKBH2,CMKLR1,CORO1C,DAO,FICD,FOXN4,ISCU,SART3,SELPLG,SSH1,SVOP,TMEM119,UNG,USP30,USP30-AS1 chr12 108734501 108736500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 108749487 108749587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 108751736 111619255 LOH Normal High-resolution SNP genotyping 21211785 ACACB,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CORO1C,CUX2,DAO,FAM216A,FAM222A,FAM222A-AS1,FICD,FOXN4,GIT2,GLTP,GPN3,HVCN1,IFT81,ISCU,KCTD10,LOC100131138,MIR4497,MMAB,MVK,MYL2,MYO1H,PPP1CC,PPTC7,RAD9B,SART3,SELPLG,SSH1,SVOP,TCHP,TCTN1,TMEM119,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29 chr12 108752390 108781013 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108766746 108767034 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108773134 108802676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108773134 108802676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108774517 109671656 LOH Normal High-resolution SNP genotyping 21211785 ACACB,ALKBH2,CORO1C,DAO,FICD,ISCU,SART3,SELPLG,SSH1,SVOP,TMEM119,UNG,USP30,USP30-AS1 chr12 108778979 108779079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 108788404 108788697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108788409 108788697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108792027 109844195 LOH Normal High-resolution SNP genotyping 21211785 ACACB,ALKBH2,CORO1C,DAO,FICD,FOXN4,ISCU,MYO1H,SART3,SELPLG,SSH1,SVOP,TMEM119,UNG,USP30,USP30-AS1 chr12 108800799 108853794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10881518 12203573 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ETV6,LOC338817,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 108822481 108840251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108822481 108840251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 108823280 108823351 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108830329 108896820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 108847092 108847247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 108847501 108851500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 108851501 109286500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CORO1C,DAO,FICD,ISCU,SART3,SELPLG,SSH1,TMEM119 chr12 108851992 108918483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FICD,SART3 chr12 108851992 108918483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FICD,SART3 chr1 210887261 210887720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 108877676 108911107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FICD chr12 10889714 11215480 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R31,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 10889714 11215480 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R31,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 10889717 10893341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10889717 10893344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10889717 10893344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10889756 25048970 Deletion Myelodysplastic syndrome - 21251322 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCAT1,BCL2L14,C12orf36,C12orf39,C12orf60,C12orf69,CAPZA3,CDKN1B,CMAS,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,KCNJ8,KIAA0528,KIAA1467,LDHB,LINC00477,LMO3,LOC100506314,LOC100506393,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,MIR920,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,PYROXD1,RECQL,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,ST8SIA1,STRAP,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,WBP11 chr12 108899955 108939951 Gain and loss Pancreatic cancer SNP array 17952125 FICD,SART3 chr12 108913407 123828884 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCB9,ACACB,ACAD10,ACADS,ADAM1A,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ARL6IP4,ARPC3,ATP2A2,ATXN2,B3GNT4,BCL7A,BRAP,C12orf43,C12orf49,C12orf52,C12orf65,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC63,CCDC64,CDK2AP1,CIT,CLIP1,COQ5,CORO1C,COX6A1,CUX2,DAO,DDX54,DENR,DIABLO,DTX1,DYNLL1,ERP29,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FBXO21,FBXW8,FOXN4,GATC,GCN1L1,GIT2,GLTP,GPN3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,HVCN1,IFT81,IL31,IQCD,ISCU,KCTD10,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LOC100131138,LOC100506668,LOC100507066,LOC100507091,LOC144742,LOC338799,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR620,MLEC,MLXIP,MMAB,MORN3,MPHOSPH9,MSI1,MVK,MYL2,MYO1H,NAA25,NOS1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PLA2G1B,PLBD2,POP5,PPP1CC,PPTC7,PRKAB1,PSMD9,PTPN11,PXN,PXN-AS1,RAB35,RAD9B,RASAL1,RBM19,RFC5,RHOF,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SDS,SDSL,SELPLG,SETD1B,SH2B3,SIRT4,SLC24A6,SPPL3,SRRM4,SRSF9,SSH1,SUDS3,SVOP,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCTN1,TESC,TMEM116,TMEM119,TMEM120B,TMEM233,TPCN1,TRAFD1,TRIAP1,TRPV4,UBE3B,UNC119B,UNG,USP30,USP30-AS1,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,ZCCHC8 chr12 108921618 108961614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ISCU,SART3 chr12 108921618 108961614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISCU,SART3 chr12 108934014 111152622 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 ACACB,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CORO1C,DAO,FAM216A,FAM222A,FAM222A-AS1,FOXN4,GIT2,GLTP,GPN3,HVCN1,IFT81,ISCU,KCTD10,MIR4497,MMAB,MVK,MYO1H,PPTC7,RAD9B,SART3,SELPLG,SSH1,SVOP,TCHP,TCTN1,TMEM119,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29 chr12 108941704 108966399 Gain and loss Pancreatic cancer SNP array 17952125 ISCU,SART3 chr12 108963366 108989883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM119 chr12 108963366 108989883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM119 chr12 108970425 108970525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 108973170 108995806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM119 chr12 109000000 111700000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACACB,ALKBH2,ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CORO1C,CUX2,DAO,FAM216A,FAM222A,FAM222A-AS1,FOXN4,GIT2,GLTP,GPN3,HVCN1,IFT81,KCTD10,LOC100131138,MIR4497,MMAB,MVK,MYL2,MYO1H,PPP1CC,PPTC7,RAD9B,SELPLG,SSH1,SVOP,TCHP,TCTN1,TRPV4,UBE3B,UNG,USP30,USP30-AS1,VPS29 chr12 10900000 11600000 Gain Acute myeloid leukemia BAC Array CGH 17237825 PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 109024940 109118751 Gain and loss Pancreatic cancer SNP array 17952125 CORO1C,SELPLG chr12 109046565 109140973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CORO1C chr12 109046565 109140973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO1C chr12 109057640 109064484 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CORO1C chr12 109101014 109102205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CORO1C chr12 109118032 109118132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CORO1C chr12 109133651 109140039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 109167818 109167883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 109182152 109251615 Gain and loss Pancreatic cancer SNP array 17952125 SSH1 chr1 210919406 211113037 Gain and loss Pancreatic cancer SNP array 17952125 KCNH1 chr12 109203414 109273280 Microdeletion Darier disease direct sequencing 19528419 SSH1 chr12 109203815 109272493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSH1 chr12 109203815 109272493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSH1 chr12 109209699 109209798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSH1 chr12 109228770 109228848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSH1 chr12 10924826 11215477 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R31,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 10924826 11354633 Amplification or deletion Normal BAC aCGH 22315515 PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9 chr12 109260973 109261271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 109260977 109261271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 210926383 210939950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 210926383 210939950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 109274669 109304152 Gain and loss Pancreatic cancer SNP array 17952125 DAO chr12 109282638 109282934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAO chr12 109295001 109390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SVOP chr12 109295667 109325868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109295667 109325868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr1 210932229 210932332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 109335427 109350878 Gain and loss Pancreatic cancer SNP array 17952125 SVOP chr12 109345791 109345903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SVOP chr12 109353012 109368784 Gain and loss Pancreatic cancer SNP array 17952125 SVOP chr12 109357088 109372541 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SVOP chr12 109357090 109376185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109357090 109376185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109374675 109390447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109374675 109390447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109390501 109391500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SVOP chr12 109390621 109412553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109390621 109412553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109391501 109566500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALKBH2,SVOP,UNG,USP30,USP30-AS1 chr12 109392051 109402636 Gain and loss Pancreatic cancer SNP array 17952125 SVOP chr12 109396877 109396946 Gain and loss Pancreatic cancer SNP array 17952125 SVOP chr12 109402725 109432609 Gain and loss Pancreatic cancer SNP array 17952125 SVOP chr12 109413712 109424299 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SVOP chr12 109413713 109424299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109413713 109424299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109418540 109418609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109424388 109454274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109424388 109454274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVOP chr12 109434663 109483843 Gain and loss Pancreatic cancer SNP array 17952125 SVOP chr12 109456620 109505447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SVOP,USP30,USP30-AS1 chr12 109456620 109505447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SVOP,USP30,USP30-AS1 chr1 210949234 210949334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH1 chr12 109502340 109535093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALKBH2,USP30 chr12 10952253 10953164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10952253 10953164 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10952253 10953164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 109536263 109571316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNG chr12 109536263 109571316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNG chr12 109549305 109589234 Gain and loss Pancreatic cancer SNP array 17952125 ACACB chr12 109554792 109554881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 10955611 10956611 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 109562367 109562467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 109569812 109605455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACB chr12 109569812 109605455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACB chr12 10959314 10959565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TAS2R8 chr12 109610501 109612500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACACB chr12 10961112 11122296 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R9 chr12 10961112 11436808 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRB3,PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R9 chr12 10961112 11547867 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R9 chr12 10961112 11583509 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R9 chr12 10961112 11606188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R9 chr12 109620464 109643387 Gain and loss Pancreatic cancer SNP array 17952125 ACACB chr12 109627001 109955000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACACB,FOXN4,KCTD10,MYO1H,UBE3B chr12 109642126 109665050 Copy number Lung cancer - 20668451 ACACB chr12 109642126 109665050 Gain or loss Breast cancer - 20668451 ACACB chr12 109642126 109665050 Gain or loss Cancer - 20668451 ACACB chr12 109642126 109665050 Gain or loss Lung cancer - 20668451 ACACB chr12 109642126 109665050 Gain or loss Ovarian cancer - 20668451 ACACB chr12 109642126 109665050 Gain or loss Pancreas cancer - 20668451 ACACB chr12 109642126 109665050 Gain or loss Prostate cancer - 20668451 ACACB chr12 109642127 109665069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACB chr12 109642127 109665069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACB chr1 210966118 211031762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 210966118 211031762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 210971189 210971238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH1 chr12 109718337 109720108 Gain Normal Birdsuite, version 1.5.2 22087296 FOXN4 chr12 109726101 110232100 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM222A,FAM222A-AS1,FOXN4,KCTD10,MMAB,MVK,MYO1H,TRPV4,UBE3B chr12 10973101 10978711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAS2R10 chr12 10973101 10978711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAS2R10 chr12 10973102 10974928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 109747531 109808058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 109769194 109829721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1H chr12 109769194 109829721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1H chr12 10980072 10981072 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 109811346 109821103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10982119 10983073 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 10982120 10983073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 10982120 11215465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R31,TAS2R46,TAS2R50 chr12 10982120 11215465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R31,TAS2R46,TAS2R50 chr12 109833009 109842766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1H chr12 109833009 109842766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1H chr12 109837724 109837954 Gain and loss Pancreatic cancer SNP array 17952125 MYO1H chr1 210984154 210995854 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNH1 chr12 109846906 109847005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1H chr12 109858789 109859638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1H chr12 109902887 111753887 LOH Normal High-resolution SNP genotyping 21211785 ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CUX2,FAM216A,FAM222A,FAM222A-AS1,GIT2,GLTP,GPN3,HVCN1,IFT81,KCTD10,LOC100131138,MIR4497,MMAB,MVK,MYL2,PPP1CC,PPTC7,RAD9B,TCHP,TCTN1,TRPV4,UBE3B,VPS29 chr12 109902887 111873987 LOH Normal High-resolution SNP genotyping 21211785 ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CUX2,FAM109A,FAM216A,FAM222A,FAM222A-AS1,GIT2,GLTP,GPN3,HVCN1,IFT81,KCTD10,LOC100131138,MIR4497,MMAB,MVK,MYL2,PPP1CC,PPTC7,RAD9B,SH2B3,TCHP,TCTN1,TRPV4,UBE3B,VPS29 chr12 109911162 109911232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCTD10 chr12 109934549 110251076 Gain and loss Pancreatic cancer SNP array 17952125 FAM222A,FAM222A-AS1,MMAB,MVK,TRPV4,UBE3B chr12 1099501 1103500 Deletion Glioma mate-paired sequence 20126413 ERC1 chr12 109956212 110272739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM222A,FAM222A-AS1,MIR4497,MMAB,MVK,TRPV4,UBE3B chr12 109956212 110272739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM222A,FAM222A-AS1,MIR4497,MMAB,MVK,TRPV4,UBE3B chr12 109956212 110272739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM222A,FAM222A-AS1,MIR4497,MMAB,MVK,TRPV4,UBE3B chr12 109956300 109956631 Loss Autism 1M Ailent CGH whole-genome array 21865298 UBE3B chr12 109990926 109990981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 109996155 109996276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMAB chr12 1 10000000 Copy number Normal - 21701786 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,ATN1,B4GALNT3,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DCP1B,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KLRB1,KLRF1,KLRG1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100507424,LOC283440,LOC374443,LOC389634,LOC574538,LOC642846,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRMT8,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,TAPBPL,TEAD4,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 110011499 110035070 Deletion Fever qPCR-HRM 21124859 MVK chr12 110029001 110081000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MVK chr12 11005050 11005480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRH1-PRR4 chr12 1 10100000 Gain Breast cancer Microarray-based CGH 17133270 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,ATN1,B4GALNT3,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DCP1B,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KLRB1,KLRF1,KLRF2,KLRG1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100507424,LOC283440,LOC374443,LOC389634,LOC574538,LOC642846,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRMT8,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,TAPBPL,TEAD4,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1101068 1102063 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERC1 chr12 110109636 111833242 LOH Normal High-resolution SNP genotyping 21211785 ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CUX2,FAM109A,FAM216A,FAM222A,FAM222A-AS1,GIT2,GLTP,GPN3,HVCN1,IFT81,LOC100131138,MIR4497,MYL2,PPP1CC,PPTC7,RAD9B,TCHP,TCTN1,TRPV4,VPS29 chr12 1101207 1102060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERC1 chr12 110121438 110121538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 211013459 211066430 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNH1 chr12 110170474 110352261 Gain small cell lung cancer Real-time Quantitative PCR 17426248 FAM222A,FAM222A-AS1,GLTP,MIR4497,TCHP,TRPV4 chr12 110179429 110179589 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM222A,FAM222A-AS1 chr12 11018000 29617000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCC9,AEBP2,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,CAPZA3,CASC1,CCDC91,CDKN1B,CMAS,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERGIC2,ERP27,ETNK1,ETV6,FAR2,FGFR1OP2,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KIAA1467,KLHDC5,KRAS,LDHB,LINC00477,LMO3,LOC100506314,LOC100506393,LOC100506451,LOC101055625,LOC338817,LOH12CR1,LOH12CR2,LRMP,LRP6,LYRM5,MANSC1,MANSC4,MED21,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR4302,MIR613,MIR614,MIR920,MRPS35,OVCH1,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PTHLH,PTPRO,PYROXD1,RASSF8,RECQL,REP15,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,STRAP,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TM7SF3,WBP11 chr12 110189961 110190020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM222A,FAM222A-AS1 chr12 110191599 111467832 LOH Normal High-resolution SNP genotyping 21211785 ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,FAM216A,FAM222A,FAM222A-AS1,GIT2,GLTP,GPN3,HVCN1,IFT81,LOC100131138,MIR4497,MYL2,PPP1CC,PPTC7,RAD9B,TCHP,TCTN1,TRPV4,VPS29 chr12 110203840 111513070 LOH Normal High-resolution SNP genotyping 21211785 ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CUX2,FAM216A,FAM222A,FAM222A-AS1,GIT2,GLTP,GPN3,HVCN1,IFT81,LOC100131138,MIR4497,MYL2,PPP1CC,PPTC7,RAD9B,TCHP,TCTN1,TRPV4,VPS29 chr12 110224987 110225086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPV4 chr12 110261205 110269546 Gain and loss Pancreatic cancer SNP array 17952125 TRPV4 chr12 1102632 1461160 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ERC1 chr12 11027103 11028103 Loss Osteosarcoma References 21215367 PRH1-PRR4 chr12 110282868 110291308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLTP chr12 110282868 110291308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLTP chr12 110283001 110285000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 110283500 111720210 LOH Normal High-resolution SNP genotyping 21211785 ANAPC7,ANKRD13A,ARPC3,ATP2A2,C12orf76,CCDC63,CUX2,FAM216A,GIT2,GLTP,GPN3,HVCN1,IFT81,LOC100131138,MYL2,PPP1CC,PPTC7,RAD9B,TCHP,TCTN1,VPS29 chr12 110285122 110286162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 11029827 11030726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 11029827 11030726 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11029827 11030726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 110305979 110306160 Loss Normal 244K array 17666407 GLTP chr12 110306472 110352146 Gain and loss Pancreatic cancer SNP array 17952125 GLTP,TCHP chr12 110306916 110308357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLTP chr12 110315503 110350331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLTP,TCHP chr1 211031808 211056590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 211031808 211056590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 110327001 110335000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 110328135 110373809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GIT2,TCHP chr12 110344559 110344693 Gain and loss Pancreatic cancer SNP array 17952125 TCHP chr12 110352565 110352605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCHP chr12 110357001 110370500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GIT2 chr12 110370501 110378500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GIT2 chr12 110374401 110521863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD13A,C12orf76,GIT2 chr12 110374401 110521863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD13A,C12orf76,GIT2 chr12 110378501 110519500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD13A,C12orf76,GIT2 chr1 211038780 211066430 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNH1 chr1 211038780 211071066 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNH1 chr1 211039355 211040189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNH1 chr12 110394602 110556807 Indels Normal Affymetrix and Illumina arrays 20811451 ANKRD13A,C12orf76,GIT2 chr12 11039827 11041741 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PRH1-PRR4 chr12 11040812 11041741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 11040812 11041741 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11040812 11041741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 11040946 11045834 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 PRH1-PRR4 chr1 211044545 211045125 Gain and loss Pancreatic cancer SNP array 17952125 KCNH1 chr12 110457 110511 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 110462766 110463443 Deletion Medulloblastoma Illumina SNP arrays 21163964 ANKRD13A chr12 110465345 110465406 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD13A chr12 110481950 110482341 Gain and loss Pancreatic cancer SNP array 17952125 C12orf76 chr12 110519501 110521000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 110521001 110560500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 11052588 11167040 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRH1-PRR4,PRH2,TAS2R13,TAS2R14,TAS2R20,TAS2R50 chr12 110544609 110586459 Gain and loss Pancreatic cancer SNP array 17952125 IFT81 chr12 11055369 11171582 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 PRH1-PRR4,PRH2,TAS2R13,TAS2R14,TAS2R20,TAS2R50 chr12 110560501 110607500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFT81 chr12 110564332 110608173 Copy number Lung cancer - 20668451 IFT81 chr12 110564332 110608173 Gain or loss Breast cancer - 20668451 IFT81 chr12 110564332 110608173 Gain or loss Cancer - 20668451 IFT81 chr12 110564332 110608173 Gain or loss Lung cancer - 20668451 IFT81 chr12 110564332 110608173 Gain or loss Ovarian cancer - 20668451 IFT81 chr12 110564332 110608173 Gain or loss Pancreas cancer - 20668451 IFT81 chr12 110564332 110608173 Gain or loss Prostate cancer - 20668451 IFT81 chr12 110566272 110608122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT81 chr12 110566272 110608122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT81 chr12 110570374 110570889 Gain and loss Pancreatic cancer SNP array 17952125 IFT81 chr12 110586592 110649656 Gain and loss Pancreatic cancer SNP array 17952125 IFT81 chr12 110592037 110592570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT81 chr12 110607501 110609000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFT81 chr12 110608285 110679284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT81 chr12 110608285 110679284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT81 chr12 110609001 110664500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFT81 chr12 11061089 11116742 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PRH1-PRR4,PRH2,TAS2R13,TAS2R14 chr12 11061265 11184215 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 PRH1-PRR4,PRH2,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R31,TAS2R50 chr12 110638373 110638473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT81 chr1 211063992 211064469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 11065537 11066437 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PRH1-PRR4 chr12 11065538 11066437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 11065538 11066437 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11065538 11066437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 110659017 110799706 Gain Autism Exome sequencing and CGH 22495309 ATP2A2 chr12 110664501 110675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 110665429 110797867 Duplication Schizophrenia NimbleGen HD2 platform 21346763 ATP2A2 chr12 110666628 110798718 Duplication Normal Affymetrix 6.0 microarrays 20967226 ATP2A2 chr12 110666628 110799085 Duplication Normal Affymetrix 6.0 microarrays 20967226 ATP2A2 chr12 110667066 110710502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 110675501 110681000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 110688729 110732165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2A2 chr12 110688729 110732165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2A2 chr1 211068992 211080288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNH1 chr12 110690496 110695559 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 211070114 211087614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 211070114 211087614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 211071635 211077059 Loss Normal Birdsuite, version 1.5.2 22087296 KCNH1 chr12 11072182 11142118 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PRH1-PRR4,PRH2,TAS2R14,TAS2R50 chr12 110726501 111080500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANAPC7,ARPC3,ATP2A2,FAM216A,GPN3,PPTC7,RAD9B,TCTN1,VPS29 chr1 211073085 211073185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH1 chr12 110740293 110743426 Gain and loss Pancreatic cancer SNP array 17952125 ATP2A2 chr12 11074075 11105026 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PRH1-PRR4,PRH2,TAS2R14 chr12 110742502 110793940 Gain and loss Pancreatic cancer SNP array 17952125 ATP2A2 chr12 11074272 11075201 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 110743000 120343000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ACAD10,ADAM1A,ALDH2,ANAPC7,ARPC3,ATP2A2,ATXN2,BRAP,C12orf49,C12orf52,CCDC42B,CCDC60,CCDC63,CIT,CUX2,DDX54,DTX1,ERP29,FAM109A,FAM216A,FBXO21,FBXW8,GPN3,HECTD4,HRK,HSPB8,HVCN1,IQCD,KSR2,LHX5,LINC00173,LOC100131138,LOC144742,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR4472-2,MIR620,MYL2,NAA25,NOS1,OAS1,OAS2,OAS3,PEBP1,PLBD2,PPP1CC,PPTC7,PRKAB1,PTPN11,RAD9B,RASAL1,RBM19,RFC5,RNFT2,RPH3A,RPL6,SDS,SDSL,SH2B3,SLC24A6,SRRM4,SUDS3,TAOK3,TBX3,TBX5,TBX5-AS1,TCTN1,TESC,TMEM116,TMEM233,TPCN1,TRAFD1,VPS29,VSIG10,WSB2 chr12 110764661 110815611 Gain or loss Breast cancer - 20668451 ANAPC7,ATP2A2 chr12 110764661 110815611 Gain or loss Cancer - 20668451 ANAPC7,ATP2A2 chr12 110764661 110815611 Gain or loss Lung cancer - 20668451 ANAPC7,ATP2A2 chr12 110764661 110815611 Gain or loss Ovarian cancer - 20668451 ANAPC7,ATP2A2 chr12 110764661 110815611 Gain or loss Pancreas cancer - 20668451 ANAPC7,ATP2A2 chr12 110764661 110815611 Gain or loss Prostate cancer - 20668451 ANAPC7,ATP2A2 chr12 110764662 110815610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANAPC7,ATP2A2 chr12 110764662 110815610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC7,ATP2A2 chr12 11078354 11078542 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11078354 11078542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 110799364 110800719 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 110799936 110972652 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC7,ARPC3,FAM216A,GPN3,PPTC7,RAD9B,VPS29 chr12 110800000 112800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAD10,ADAM1A,ALDH2,ANAPC7,ARPC3,ATXN2,BRAP,CCDC63,CUX2,ERP29,FAM109A,FAM216A,GPN3,HECTD4,HVCN1,LOC100131138,MAPKAPK5,MAPKAPK5-AS1,MYL2,NAA25,PPP1CC,PPTC7,RAD9B,SH2B3,TCTN1,TMEM116,TRAFD1,VPS29 chr12 110800000 115300000 Deletion Medulloblastoma SNP arrays 21979893 ACAD10,ADAM1A,ALDH2,ANAPC7,ARPC3,ATXN2,BRAP,C12orf52,CCDC42B,CCDC63,CUX2,DDX54,DTX1,ERP29,FAM109A,FAM216A,GPN3,HECTD4,HVCN1,IQCD,LHX5,LOC100131138,MAPKAPK5,MAPKAPK5-AS1,MYL2,NAA25,OAS1,OAS2,OAS3,PLBD2,PPP1CC,PPTC7,PTPN11,RAD9B,RASAL1,RBM19,RPH3A,RPL6,SDS,SDSL,SH2B3,SLC24A6,TBX3,TBX5,TBX5-AS1,TCTN1,TMEM116,TPCN1,TRAFD1,VPS29 chr12 110831823 110913663 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC7,ARPC3,FAM216A,GPN3 chr12 11083712 11109328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRH1-PRR4,PRH2,TAS2R14 chr12 110853486 110935326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARPC3,FAM216A,GPN3,VPS29 chr12 110853486 110935326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARPC3,FAM216A,GPN3,VPS29 chr12 11087898 11158086 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRH1-PRR4,TAS2R14,TAS2R20,TAS2R50 chr12 110903726 110912856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM216A,GPN3 chr12 110913982 110923343 Gain and loss Pancreatic cancer SNP array 17952125 FAM216A chr1 211092073 211098053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 211092073 211098053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 110927214 111009317 Gain and loss Pancreatic cancer SNP array 17952125 FAM216A,PPTC7,RAD9B,VPS29 chr1 211093245 211093391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 110935535 110945407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD9B,VPS29 chr12 110935535 110945407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD9B,VPS29 chr12 110940004 110969889 Amplification Prostate cancer quantitative reverse transcription-PCR 18316588 RAD9B chr12 110940133 110940190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD9B chr1 211094115 211168284 Gain and loss Pancreatic cancer SNP array 17952125 KCNH1 chr12 110948877 111030980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPTC7,RAD9B chr12 110948877 111030980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPTC7,RAD9B chr1 211095140 211095331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 110969628 110969731 Gain and loss Pancreatic cancer SNP array 17952125 RAD9B chr12 110969630 110969732 Gain and loss Pancreatic cancer SNP array 17952125 RAD9B chr1 211098219 211135379 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 KCNH1 chr1 211098220 211135378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 211098220 211135378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 110987643 110987715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPTC7 chr12 110991291 110991396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPTC7 chr12 11100122 11130208 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PRH1-PRR4 chr12 111026084 111054127 Gain and loss Pancreatic cancer SNP array 17952125 TCTN1 chr12 111047747 111075790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCTN1 chr12 111047747 111075790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCTN1 chr12 111049884 111049994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 111049885 111049994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 11105231 11106160 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11106628 11143128 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 PRH1-PRR4,TAS2R50 chr12 11106639 11108116 Loss Normal Birdsuite, version 1.5.2 22087296 PRH1-PRR4 chr12 111071547 111071659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCTN1 chr12 111075038 111075556 Gain Ewing's sarcoma Array CGH 19144156 TCTN1 chr12 11108116 11110690 Loss Normal Birdsuite, version 1.5.2 22087296 PRH1-PRR4 chr12 111082494 111228421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HVCN1,PPP1CC,TCTN1 chr12 11109242 11141947 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PRH1-PRR4,TAS2R50 chr12 11109283 11147875 Copy number Incontinentia Pigmenti Agilent SurePrint G12 one Million microarrays 22033527 PRH1-PRR4,TAS2R50 chr12 111094001 111106000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HVCN1 chr12 11109562 11113235 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 PRH1-PRR4 chr12 11109590 11112629 Gain Normal 244K array 17666407 PRH1-PRR4 chr1 2111097 2113039 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCZ chr12 111106001 111107500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HVCN1 chr12 11110690 11111991 Loss Normal Birdsuite, version 1.5.2 22087296 PRH1-PRR4 chr12 111107501 111145000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HVCN1 chr12 11111979 11148084 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRH1-PRR4,TAS2R50 chr12 11111991 11113633 Loss Normal Birdsuite, version 1.5.2 22087296 PRH1-PRR4 chr12 11112095 11143128 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 PRH1-PRR4,TAS2R50 chr12 111126068 111126200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HVCN1 chr12 11113176 11274374 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 PRH1-PRR4,TAS2R19,TAS2R20,TAS2R31,TAS2R43,TAS2R46,TAS2R50 chr12 111132222 111132291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11113633 11132799 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PRH1-PRR4 chr12 11113633 11132799 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PRH1-PRR4 chr12 111145001 111274500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP1CC chr12 111150081 111174277 Gain and loss Pancreatic cancer SNP array 17952125 PPP1CC chr12 111164608 111164708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1CC chr12 111167601 111167839 Gain and loss Pancreatic cancer SNP array 17952125 PPP1CC chr12 111167601 111167923 Gain and loss Pancreatic cancer SNP array 17952125 PPP1CC chr12 111187360 111634638 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 CCDC63,CUX2,LOC100131138,MYL2 chr12 111189264 111189582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 111202394 111203187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 11121764 11135750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRH1-PRR4 chr12 111224057 111224868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 11124071 11166924 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PRH1-PRR4,TAS2R20,TAS2R50 chr12 111268665 111336680 Amplification or deletion Cancer Array CGH 17440070 CCDC63 chr12 111274501 111764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC63,CUX2,LOC100131138,MYL2 chr12 11127795 11128177 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PRH1-PRR4 chr12 111305717 111310141 Gain and loss Pancreatic cancer SNP array 17952125 CCDC63 chr12 111319256 111410436 Gain and loss Pancreatic cancer SNP array 17952125 CCDC63,LOC100131138,MYL2 chr12 1113200 1114019 Copy number Autism exome sequencing 22495311 ERC1 chr12 111327376 111331826 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CCDC63 chr12 111327378 111331793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC63 chr12 111327378 111331793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC63 chr12 11132799 11143141 Loss Normal Birdsuite, version 1.5.2 22087296 PRH1-PRR4,TAS2R50 chr12 11133197 11146095 Loss Normal Quantitative PCR 18989455 PRH1-PRR4,TAS2R50 chr12 111340918 111432100 Gain or loss Breast cancer - 20668451 CCDC63,LOC100131138,MYL2 chr12 111340918 111432100 Gain or loss Cancer - 20668451 CCDC63,LOC100131138,MYL2 chr12 111340918 111432100 Gain or loss Lung cancer - 20668451 CCDC63,LOC100131138,MYL2 chr12 111340918 111432100 Gain or loss Ovarian cancer - 20668451 CCDC63,LOC100131138,MYL2 chr12 111340918 111432100 Gain or loss Pancreas cancer - 20668451 CCDC63,LOC100131138,MYL2 chr12 111340918 111432100 Gain or loss Prostate cancer - 20668451 CCDC63,LOC100131138,MYL2 chr12 111340919 111432099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC63,LOC100131138,MYL2 chr12 111340919 111432099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC63,LOC100131138,MYL2 chr12 111345782 111390632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100131138,MYL2 chr12 11135166 11136095 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11138426 11140719 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4,TAS2R50 chr12 11139270 11139458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4,TAS2R50 chr12 111409278 111409373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 111411656 111424568 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 111463758 111464043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 11148001 11151900 Deletion Glioma mate-paired sequence 20126413 PRH1-PRR4,TAS2R20 chr12 111481900 111481995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUX2 chr12 11149792 11150105 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRH1-PRR4,TAS2R20 chr12 111503793 111504854 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CUX2 chr12 11150977 11151077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRH1-PRR4 chr12 111515824 111821546 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CUX2,FAM109A chr12 111515824 112032758 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATXN2,CUX2,FAM109A,SH2B3 chr12 111522401 113546400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAD10,ADAM1A,ALDH2,ATXN2,BRAP,CUX2,DTX1,ERP29,FAM109A,HECTD4,MAPKAPK5,MAPKAPK5-AS1,NAA25,OAS1,OAS2,OAS3,PTPN11,RASAL1,RPH3A,RPL6,SH2B3,TMEM116,TRAFD1 chr12 111604176 111604276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUX2 chr12 111617222 111617364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUX2 chr1 211165029 211226307 Gain and loss Pancreatic cancer SNP array 17952125 KCNH1 chr12 111664688 111664775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUX2 chr12 111688645 111688717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUX2 chr12 111692462 111799402 Gain and loss Pancreatic cancer SNP array 17952125 CUX2,FAM109A chr12 111695715 111695815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUX2 chr12 111713931 111821065 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CUX2,FAM109A chr12 111714125 111819627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUX2,FAM109A chr12 111714125 111819627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUX2,FAM109A chr12 111736668 111736766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUX2 chr12 111764501 111977500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN2,CUX2,FAM109A,SH2B3 chr12 11177184 11178110 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 111787773 111787984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CUX2 chr12 11179371 11179423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRH1-PRR4 chr12 111807472 111820078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 111829122 111854177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH2B3 chr12 111829122 111854177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH2B3 chr12 111838877 111873770 Gain and loss Pancreatic cancer SNP array 17952125 SH2B3 chr12 11184405 24769858 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf39,C12orf60,C12orf69,CAPZA3,CDKN1B,CMAS,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,KCNJ8,KIAA0528,KIAA1467,LDHB,LINC00477,LMO3,LOC100506314,LOC100506393,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,MIR920,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1-PRR4,PTPRO,PYROXD1,RECQL,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,ST8SIA1,STRAP,TAS2R30,TAS2R42,TAS2R43,TAS2R46,WBP11 chr12 111860540 111900791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN2,SH2B3 chr1 211186680 211186760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH1 chr12 111876490 111892414 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATXN2,SH2B3 chr12 111879093 111910629 Gain and loss Pancreatic cancer SNP array 17952125 ATXN2,SH2B3 chr12 111883398 111883456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH2B3 chr12 111900657 111933911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN2 chr12 111900657 111933911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN2 chr1 211190477 211231550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 211190477 211231550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 11191989 11192533 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 111928450 111954372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATXN2 chr12 111958188 111963272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATXN2 chr12 111958382 111998553 Gain and loss Pancreatic cancer SNP array 17952125 ATXN2 chr12 111980044 112020216 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ATXN2 chr12 111980044 112020216 Gain or loss Breast cancer - 20668451 ATXN2 chr12 111980044 112020216 Gain or loss Cancer - 20668451 ATXN2 chr12 111980044 112020216 Gain or loss Lung cancer - 20668451 ATXN2 chr12 111980044 112020216 Gain or loss Ovarian cancer - 20668451 ATXN2 chr12 111980044 112020216 Gain or loss Pancreas cancer - 20668451 ATXN2 chr12 111980044 112020216 Gain or loss Prostate cancer - 20668451 ATXN2 chr12 111980045 112020216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN2 chr12 111980045 112020216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN2 chr12 11200000 12700000 Loss Acute lymphoblastic leukemia - 21339820 BCL2L14,DUSP16,ETV6,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,PRB1,PRB2,PRB3,PRB4,PRH1-PRR4,RNU6-19,TAS2R30,TAS2R42,TAS2R43,TAS2R46 chr12 112000038 112036741 Gain and loss Pancreatic cancer SNP array 17952125 ATXN2 chr12 112021701 112058404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN2 chr12 112021701 112058404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN2 chr12 112052435 112055949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 112057289 112057386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 112057294 112057386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 112057699 112086004 Gain and loss Pancreatic cancer SNP array 17952125 BRAP chr12 112059276 112059637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 11206966 11207032 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11206966 11207032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 112072045 112081463 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 BRAP chr12 112072070 112077684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 112072070 112077684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 112078949 112079044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 112078950 112079044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 112078950 112079049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 112079360 112107667 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 BRAP chr12 112079369 112107667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRAP chr12 112079369 112107667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRAP chr12 112087272 112092342 Gain and loss Pancreatic cancer SNP array 17952125 BRAP chr12 112095968 112121600 Gain and loss Pancreatic cancer SNP array 17952125 BRAP chr12 112100610 112100707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRAP chr12 112107926 112114549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRAP chr12 112107926 112114549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRAP chr12 112107937 112114502 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 BRAP chr12 112117628 112143263 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ACAD10,BRAP chr12 112117631 112143282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAD10,BRAP chr12 112117631 112143282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAD10,BRAP chr12 11212107 11212318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRH1-PRR4 chr12 112121996 112199107 Gain and loss Pancreatic cancer SNP array 17952125 ACAD10,BRAP chr12 112143651 112218317 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ACAD10,ALDH2 chr12 112143653 112218316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAD10,ALDH2 chr12 112143653 112218316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAD10,ALDH2 chr12 112167495 112167813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACAD10 chr12 11219230 11219379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRH1-PRR4 chr12 112199292 112235645 Gain and loss Pancreatic cancer SNP array 17952125 ALDH2 chr12 112203187 112212500 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ALDH2 chr12 112204277 112204581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 112219206 112220770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH2 chr12 112220955 112257308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH2 chr12 112220955 112257308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH2 chr12 112259098 112289921 Gain and loss Pancreatic cancer SNP array 17952125 MAPKAPK5,MAPKAPK5-AS1 chr12 112271501 112322000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPKAPK5,MAPKAPK5-AS1 chr12 112280761 112311584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPKAPK5 chr12 112280761 112311584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPKAPK5 chr12 112292977 112304412 Gain and loss Pancreatic cancer SNP array 17952125 MAPKAPK5 chr12 11229866 11230810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 11229866 11230810 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11229866 11230810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 112300000 114300000 Deletion Cancer Array CGH 17440070 ADAM1A,C12orf52,CCDC42B,DDX54,DTX1,ERP29,HECTD4,IQCD,LHX5,MAPKAPK5,NAA25,OAS1,OAS2,OAS3,PLBD2,PTPN11,RASAL1,RBM19,RPH3A,RPL6,SDS,SDSL,SLC24A6,TMEM116,TPCN1,TRAFD1 chr12 112300625 118949818 Gain Neuroblastoma aCGH 20406844 ADAM1A,C12orf49,C12orf52,CCDC42B,DDX54,DTX1,ERP29,FBXO21,FBXW8,HECTD4,HRK,IQCD,KSR2,LHX5,LINC00173,MAP1LC3B2,MAPKAPK5,MED13L,MIR4472-2,MIR620,NAA25,NOS1,OAS1,OAS2,OAS3,PEBP1,PLBD2,PTPN11,RASAL1,RBM19,RFC5,RNFT2,RPH3A,RPL6,SDS,SDSL,SLC24A6,SUDS3,TAOK3,TBX3,TBX5,TBX5-AS1,TESC,TMEM116,TPCN1,TRAFD1,VSIG10,WSB2 chr12 112314640 112326075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPKAPK5 chr12 112314640 112326075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPKAPK5 chr1 211232147 211255791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr1 211232147 211255791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 112322001 112385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAM1A,MAPKAPK5,TMEM116 chr12 112322970 112338800 Gain and loss Pancreatic cancer SNP array 17952125 ADAM1A,MAPKAPK5 chr12 11233166 11233479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRH1-PRR4 chr12 112344598 112360464 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 112344599 112360463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 112344599 112360463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 211236013 211236268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1 chr12 112363414 112372597 Gain and loss Pancreatic cancer SNP array 17952125 TMEM116 chr12 112385077 112394260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM116 chr12 112385077 112394260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM116 chr12 112402501 112718500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERP29,HECTD4,NAA25,TMEM116,TRAFD1 chr12 112420241 112437109 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM116 chr12 112466689 112466789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAA25 chr12 112468412 112475574 Loss Normal Birdsuite, version 1.5.2 22087296 NAA25 chr12 11248302 11436808 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRB3,PRH1-PRR4,TAS2R30,TAS2R42 chr12 11248302 11583509 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRB1,PRB2,PRB3,PRB4,PRH1-PRR4,TAS2R30,TAS2R42 chr12 11248302 11606188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PRB1,PRB2,PRB3,PRB4,PRH1-PRR4,TAS2R30,TAS2R42 chr12 112495296 113026763 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-725K arrays 21546498 HECTD4,NAA25,PTPN11,RPL6,TRAFD1 chr12 112503316 112503379 Gain and loss Pancreatic cancer SNP array 17952125 NAA25 chr12 112598206 112630552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HECTD4 chr12 1 12600000 Gain Acute lymphoblastic leukemia array CGH 17690704 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,ATN1,B4GALNT3,BCL2L14,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CSDA,DCP1B,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 112607466 112607531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECTD4 chr12 112632128 132349534 Gain Medulloblastoma array-CGH 16783165 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf49,C12orf52,C12orf65,CABP1,CAMKK2,CCDC42B,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX54,DDX55,DENR,DHX37,DIABLO,DNAH10,DTX1,DYNLL1,EIF2B1,FAM101A,FBXO21,FBXW8,FLJ31485,FLJ37505,FZD10,GATC,GCN1L1,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,IL31,IQCD,KDM2B,KNTC1,KSR2,LHX5,LINC00173,LINC00507,LOC100128554,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MAP1LC3B2,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,NOS1,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,POP5,PRKAB1,PSMD9,PTPN11,PXN,PXN-AS1,RAB35,RAN,RASAL1,RBM19,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SBNO1,SCARB1,SDS,SDSL,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SLC24A6,SNRNP35,SPPL3,SRRM4,SRSF9,STX2,SUDS3,TAOK3,TBX3,TBX5,TBX5-AS1,TCTN2,TESC,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TPCN1,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,VSIG10,WDR66,WSB2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 112637868 112637935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECTD4 chr12 112648969 112662822 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HECTD4 chr12 1 126500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100288778 chr12 112657852 112668166 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HECTD4 chr12 112713277 115411478 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf52,CCDC42B,DDX54,DTX1,HECTD4,IQCD,LHX5,OAS1,OAS2,OAS3,PLBD2,PTPN11,RASAL1,RBM19,RPH3A,RPL6,SDS,SDSL,SLC24A6,TBX3,TBX5,TBX5-AS1,TPCN1 chr12 112717267 112866831 Gain and loss Pancreatic cancer SNP array 17952125 HECTD4,PTPN11,RPL6 chr12 112718501 112786500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HECTD4 chr12 112734030 112734081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECTD4 chr12 112744246 112888499 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HECTD4,PTPN11,RPL6 chr12 112744246 112888499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HECTD4,PTPN11,RPL6 chr12 112744246 112888499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECTD4,PTPN11,RPL6 chr12 112749540 112749590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECTD4 chr12 112762082 113002746 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 HECTD4,PTPN11,RPL6 chr12 112767476 112782936 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 HECTD4 chr12 112786501 112929000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HECTD4,PTPN11,RPL6 chr12 112800000 115300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C12orf52,CCDC42B,DDX54,DTX1,HECTD4,IQCD,LHX5,OAS1,OAS2,OAS3,PLBD2,PTPN11,RASAL1,RBM19,RPH3A,RPL6,SDS,SDSL,SLC24A6,TBX3,TBX5,TBX5-AS1,TPCN1 chr12 112800000 119100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 C12orf49,C12orf52,CCDC42B,DDX54,DTX1,FBXO21,FBXW8,HECTD4,HRK,IQCD,KSR2,LHX5,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,MIR620,NOS1,OAS1,OAS2,OAS3,PEBP1,PLBD2,PTPN11,RASAL1,RBM19,RFC5,RNFT2,RPH3A,RPL6,SDS,SDSL,SLC24A6,SUDS3,TAOK3,TBX3,TBX5,TBX5-AS1,TESC,TPCN1,VSIG10,WSB2 chr12 112800000 119100000 Microduplication mental retardation genome-wide tiling-path resolution array comparative genomic hybridization 16760730 C12orf49,C12orf52,CCDC42B,DDX54,DTX1,FBXO21,FBXW8,HECTD4,HRK,IQCD,KSR2,LHX5,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,MIR620,NOS1,OAS1,OAS2,OAS3,PEBP1,PLBD2,PTPN11,RASAL1,RBM19,RFC5,RNFT2,RPH3A,RPL6,SDS,SDSL,SLC24A6,SUDS3,TAOK3,TBX3,TBX5,TBX5-AS1,TESC,TPCN1,VSIG10,WSB2 chr12 112849265 112849337 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 112853638 112853693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 112860583 112860652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPN11 chr12 112870928 112871000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN11 chr1 211288082 211288182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH1 chr12 112890000 120440000 Loss Breast cancer aCGH 21509527 C12orf49,C12orf52,CCDC42B,CCDC60,CCDC64,CIT,DDX54,DTX1,FBXO21,FBXW8,HRK,HSPB8,IQCD,KSR2,LHX5,LINC00173,LOC144742,MAP1LC3B2,MED13L,MIR1178,MIR4472-2,MIR620,NOS1,OAS1,OAS2,OAS3,PEBP1,PLBD2,PRKAB1,PTPN11,RASAL1,RBM19,RFC5,RNFT2,RPH3A,SDS,SDSL,SLC24A6,SRRM4,SUDS3,TAOK3,TBX3,TBX5,TBX5-AS1,TESC,TMEM233,TPCN1,VSIG10,WSB2 chr1 211291211 211513430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH1,RCOR3,TRAF5 chr1 211291211 211513430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH1,RCOR3,TRAF5 chr12 11292413 11940929 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ETV6,LOC338817,PRB1,PRB2,PRB3,PRB4,PRH1-PRR4,TAS2R42 chr12 112929001 113318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPN11,RPH3A chr12 112943586 113096366 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTPN11 chr12 112951314 113223276 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 113042568 113101300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 113055139 113055192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 113056245 113088157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 113095002 113100612 Loss Normal 244K array 17666407 NOT_FOUND chr12 113109481 113109581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1 1311104 Amplification Cancer Affymetrix 250K Sty array 20164920 B4GALNT3,CCDC77,ERC1,FAM138D,IQSEC3,KDM5A,LOC100288778,LOC574538,NINJ2,RAD52,SLC6A12,SLC6A13,WNK1 chr12 11311393 11313908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 11311393 11313908 Gain and loss Pancreatic cancer SNP array 17952125 PRH1-PRR4 chr12 11311393 11313908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRH1-PRR4 chr12 113116586 113122292 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 113124708 113124808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 113128898 118889632 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C12orf49,C12orf52,CCDC42B,DDX54,DTX1,FBXO21,FBXW8,HRK,IQCD,KSR2,LHX5,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,MIR620,NOS1,OAS1,OAS2,OAS3,PEBP1,PLBD2,RASAL1,RBM19,RFC5,RNFT2,RPH3A,SDS,SDSL,SLC24A6,SUDS3,TAOK3,TBX3,TBX5,TBX5-AS1,TESC,TPCN1,VSIG10,WSB2 chr12 113171792 113171892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1 132078379 Deletion Esophageal cancer affymetrix genechip human mapping 277K Nsp arrays 21851588 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 113212716 113212781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 1 132349534 Deletion Medulloblastoma SNP arrays 21979893 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Deletion Normal - 20616218 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Deletion Normal Affymetrix 250K SNP array 21412953 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Gain Ewing's sarcoma Karyotyping, CGH and FISH(Reference) 21437220 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Gain Medulloblastoma SNP arrays 21979893 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Gain Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Indels Malaria PCR,Delta Delta Ct 21533027 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Indels Normal Affymetrix 6.0 array 21223598 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-721K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-722K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-723K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-724K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-726K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-727K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-728K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-729K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-730K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-731K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-732K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-734K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-735K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-736K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-737K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-738K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-739K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-740K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-742K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-743K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-744K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-745K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-746K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-747K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-748K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-749K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-750K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-751K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-752K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-755K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-759K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-760K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-765K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-767K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-768K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-769K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-770K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Trisomy Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-253K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 1 132349534 Trisomy Normal MAD tool 21586113 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 113250006 113250083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPH3A chr12 113251825 113251906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPH3A chr12 113254456 113308967 Gain and loss Pancreatic cancer SNP array 17952125 RPH3A chr12 113276119 113330630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPH3A chr12 113276119 113330630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPH3A chr12 113309279 113313356 Gain and loss Pancreatic cancer SNP array 17952125 RPH3A chr12 113318001 113327000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPH3A chr1 211332299 211364325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 113327001 113328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPH3A chr12 113328001 113339000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPH3A chr12 113333477 113333712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPH3A chr12 113339001 113361500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OAS1 chr12 113354032 113354032 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OAS1 chr12 113371001 113582500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DTX1,OAS2,OAS3,RASAL1 chr12 1 133851895 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHFR,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX51,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EP400,EP400NL,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBRSL1,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GALNT9,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRCOL1,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOC4L,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PGAM5,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS1,PUS7L,PWP1,PXMP2,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF384,ZNF385A,ZNF605,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740,ZNF84 chr12 1 133851895 Trisomy Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHFR,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX51,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EP400,EP400NL,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBRSL1,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GALNT9,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRCOL1,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOC4L,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PGAM5,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS1,PUS7L,PWP1,PXMP2,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF384,ZNF385A,ZNF605,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740,ZNF84 chr12 113405380 113405712 Gain and loss Pancreatic cancer SNP array 17952125 OAS3 chr12 113405446 113405712 Gain and loss Pancreatic cancer SNP array 17952125 OAS3 chr12 113406247 113406399 Gain and loss Pancreatic cancer SNP array 17952125 OAS3 chr12 113427056 113427375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OAS2 chr12 113427758 113428078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OAS2 chr12 113427910 113428062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OAS2 chr12 113508149 113508211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DTX1 chr12 11351284 11354633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 11351284 11439768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRB3 chr12 11351284 11439768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRB3 chr12 113524316 113524413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTX1 chr12 113549812 113549844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASAL1 chr12 113558475 113558587 Gain and loss Pancreatic cancer SNP array 17952125 RASAL1 chr12 113558476 113558587 Gain and loss Pancreatic cancer SNP array 17952125 RASAL1 chr12 113570219 113571481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RASAL1 chr12 113570673 113570763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASAL1 chr12 113570779 113584689 Gain and loss Pancreatic cancer SNP array 17952125 RASAL1 chr12 113580137 113580250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 113582501 113666500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf52,CCDC42B,DDX54,IQCD,TPCN1 chr12 113592442 113606352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC42B,DDX54 chr12 113592442 113606352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC42B,DDX54 chr12 113616825 113616925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX54 chr12 113638230 113638340 Gain and loss Pancreatic cancer SNP array 17952125 IQCD chr12 113659893 113660003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPCN1 chr12 113666501 113767500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC24A6,TPCN1 chr12 11366981 11367981 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 113677423 113677523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPCN1 chr1 211370717 247249719 Gain Medulloblastoma array-CGH 16783165 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARV1,ATF3,AURKAPS1,B3GALNT2,BATF3,BPNT1,BROX,C1orf100,C1orf101,C1orf115,C1orf131,C1orf140,C1orf145,C1orf198,C1orf227,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CENPF,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DISP1,DNAH14,DTL,DUSP10,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,EXO1,EXOC8,FAM177B,FAM71A,FAM89A,FBXO28,FH,FLVCR1,FLVCR1-AS1,FMN2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPATCH2,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,IARS2,IBA57,INTS7,IRF2BP2,ITPKB,JMJD4,KCNK1,KCNK2,KCTD3,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00210,LINC00467,LINC00538,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC643723,LOC728463,LOC731275,LPGAT1,LYPLAL1,LYST,MAP1LC3C,MARC1,MARC2,MARK1,MIA3,MIR1182,MIR1537,MIR194-1,MIR215,MIR3122,MIR3123,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR664,MIXL1,MRPL55,MTR,NEK2,NENF,NID1,NSL1,NTPCR,NUP133,NVL,OBSCN,OPN3,PARP1,PCNXL2,PGBD5,PLD5,PPP2R5A,PROX1,PRSS38,PSEN2,PTPN14,PYCR2,RAB3GAP2,RAB4A,RBM34,RCOR3,RD3,RGS7,RHOU,RNF187,RNU5F-1,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SIPA1L2,SLC30A1,SLC30A10,SLC35F3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNRPD2P2,SPATA17,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TLR5,TMEM206,TMEM63A,TOMM20,TP53BP2,TRAF5,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,USH2A,VASH2,WDR26,WDR64,WNT3A,WNT9A,ZNF238,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr12 11371263 11454930 Deletion Mental retardation MLPA Pos 20877625 PRB3 chr12 113724076 113724173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPCN1 chr12 11372533 11402844 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 11374350 11446677 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRB3 chr12 113748801 114937900 Copy number Normal ReadDepth: A Parallel R Package 21305028 LHX5,PLBD2,RBM19,SDS,SDSL,SLC24A6,TBX5,TBX5-AS1 chr12 113765226 113984486 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LHX5,PLBD2,SDS,SDSL,SLC24A6 chr12 113767501 114127500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LHX5,PLBD2,SDS,SDSL,SLC24A6 chr1 211378021 211378121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11382504 11382591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 113852941 113853028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11386586 11458911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRB3 chr12 113876758 113876858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 113910638 113910691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11391889 11454016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRB3 chr12 11392803 11445858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRB3 chr12 113949759 113949832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11395846 11460239 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PRB3,PRB4 chr12 11396023 11399791 Amplification or deletion Normal BAC aCGH 22315515 NOT_FOUND chr12 11396024 11399754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 11396088 11435791 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 PRB3 chr12 113971441 114088285 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 11398071 11462271 Substitutions and indels small cell lung cancer array-CGH 20016488 PRB3,PRB4 chr12 11400180 11444750 Loss or gain Normal 244K array 17666407 PRB3 chr12 114017346 114017446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11402832 11417556 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 11402832 11434641 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 11402832 11434641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 11402832 11443857 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 11402844 11403758 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 11402844 11434673 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PRB3 chr12 11402844 11446278 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PRB3 chr12 11403747 11434641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 11403747 11444037 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 11403748 11443446 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 PRB3 chr12 11403758 11403759 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 11403759 11434653 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PRB3 chr12 11403759 11434653 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PRB3 chr12 11403759 11434653 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PRB3 chr12 11403759 11434673 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PRB3 chr12 11403786 11434641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 11403826 11434641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 11404436 11434641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 114071408 114071508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11407199 11436086 Loss Autism qPCR 20531469 PRB3 chr12 11410696 12118386 Deletion Cancer Affymetrix 250K Sty array 20164920 ETV6,LOC338817,PRB1,PRB2,PRB3,PRB4,RNU6-19 chr12 114126536 114851315 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 RBM19,TBX5,TBX5-AS1 chr12 114127501 114215000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 11413037 11434641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRB3 chr12 114130810 114130998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114131066 114131255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114195924 115411478 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RBM19,TBX3,TBX5,TBX5-AS1 chr12 114199943 114200039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114212137 114212237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114215001 114372500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBM19 chr12 114251469 114251518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11425585 11426122 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 114265227 114265261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM19 chr12 114266082 114266182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM19 chr12 114300000 125900000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf49,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,FBXO21,FBXW8,GATC,GCN1L1,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,IL31,KDM2B,KNTC1,KSR2,LINC00173,LOC100506668,LOC100507066,LOC100507091,LOC144742,LOC338799,LRRC43,MAP1LC3B2,MED13L,MIR1178,MIR3908,MIR4304,MIR4472-2,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MORN3,MPHOSPH9,MSI1,NCOR2,NOS1,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RBM19,RFC5,RHOF,RILPL1,RILPL2,RNF10,RNF34,RNFT2,RPLP0,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SIRT4,SNRNP35,SPPL3,SRRM4,SRSF9,SUDS3,TAOK3,TBX3,TBX5,TBX5-AS1,TCTN2,TESC,TMED2,TMEM120B,TMEM132B,TMEM233,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,VSIG10,WDR66,WSB2,ZCCHC8,ZNF664,ZNF664-FAM101A chr1 211432472 211433445 Gain and loss Pancreatic cancer SNP array 17952125 RCOR3 chr12 11434653 11445145 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 11435740 11439768 Amplification or deletion Normal BAC aCGH 22315515 NOT_FOUND chr12 11437028 11439753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 114375501 114828500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBM19,TBX5 chr12 11443151 13001234 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 APOLD1,BCL2L14,CDKN1B,CREBL2,DDX47,DUSP16,ETV6,GPR19,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,PRB1,PRB2,PRB4,RNU6-19 chr12 11450125 12816227 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCL2L14,CREBL2,DUSP16,ETV6,GPR19,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,PRB1,PRB2,PRB4,RNU6-19 chr12 114514754 114549726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 114559801 114559901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114561909 114564286 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 114618244 114618537 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 114639906 114640199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 114639907 114640200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 114644246 114644346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114658185 114668568 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 211466358 211499791 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RCOR3 chr12 114693300 114693363 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 11469663 31246239 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCC9,AEBP2,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,CAPRIN2,CAPZA3,CASC1,CCDC91,CDKN1B,CMAS,CREBL2,DDX11,DDX11-AS1,DDX47,DERA,DUSP16,EMP1,EPS8,ERGIC2,ERP27,ETNK1,ETV6,FAR2,FGFR1OP2,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,IPO8,ITPR2,KCNJ8,KIAA0528,KIAA1467,KLHDC5,KRAS,LDHB,LINC00477,LMO3,LOC100287314,LOC100506314,LOC100506393,LOC100506451,LOC101055625,LOC338817,LOH12CR1,LOH12CR2,LRMP,LRP6,LYRM5,MANSC1,MANSC4,MED21,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR4302,MIR613,MIR614,MIR920,MRPS35,OVCH1,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PPFIBP1,PRB1,PRB2,PTHLH,PTPRO,PYROXD1,RASSF8,RECQL,REP15,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,STRAP,TM7SF3,TMTC1,TSPAN11,WBP11 chr12 114733927 114734027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114740014 114740102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114742213 114742358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114753173 114753243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 114767242 114767342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114774836 114774906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 114777081 114777136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 1 14800000 Amplification Medulloblastoma CGH 16968546 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Copy number Prostate cancer 250K Sty SNP Array 19156837 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Deletion Hepatocellular carcinoma Array CGH 16750200 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Deletion T-cell acute lymphoblastic leukemia FISH 20065082 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Gain Breast cancer array-CGH 22032731 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Gain Cancer array-based techniques 21183584 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Gain Medulloblastoma SNP arrays 21979893 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Gain Myxofibrosarcoma Array CGH 16751306 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Gain Non-small cell lung cancer dChip 21829676 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Gain Prostate cancer Illumina 1M-Duo bead arrays 21965145 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Insertion or del Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Loss Disorders of sex development oligo V6.2 21048976 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Loss Glioblastoma multiforme conventional CGH 21080181 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 14800000 Loss Liposarcoma FISH, CGH 21253554 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 114828501 114876500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBX5,TBX5-AS1 chr1 211482925 212162567 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 INTS7,LINC00467,LPGAT1,NEK2,RCOR3,RD3,SLC30A1,TRAF5 chr1 211482925 214133303 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANGEL2,ATF3,BATF3,C1orf227,DTL,FAM71A,FLVCR1,FLVCR1-AS1,INTS7,LINC00467,LINC00538,LPGAT1,MIR3122,NEK2,NENF,NSL1,PPP2R5A,RCOR3,RD3,RPS6KC1,SLC30A1,SNORA16B,TATDN3,TMEM206,TRAF5,VASH2 chr12 114839489 114839589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBX5 chr12 114855426 114861755 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 114859103 115177863 Gain and loss Pancreatic cancer SNP array 17952125 TBX3 chr12 114876501 115198500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBX3 chr12 114880763 115199526 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 TBX3 chr12 114880766 115199526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBX3 chr12 114880766 115199526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX3 chr12 11492448 24692042 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf39,C12orf60,C12orf69,CAPZA3,CDKN1B,CMAS,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,KCNJ8,KIAA0528,KIAA1467,LDHB,LMO3,LOC100506314,LOC100506393,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,MIR920,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PTPRO,PYROXD1,RECQL,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,ST8SIA1,STRAP,WBP11 chr12 11495011 11495111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 114983096 114983201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 114983099 114983201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 114995540 115094625 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 211500000 249250621 Loss Basal cell lymphoma CGH 17170743 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AIDA,AKT3,ANGEL2,ARF1,ARID4B,ARV1,ATF3,AURKAPS1,B3GALNT2,BATF3,BPNT1,BROX,C1orf100,C1orf101,C1orf115,C1orf131,C1orf140,C1orf145,C1orf198,C1orf227,C1orf229,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CENPF,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DISP1,DNAH14,DTL,DUSP10,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,EXO1,EXOC8,FAM177B,FAM71A,FAM89A,FBXO28,FH,FLVCR1,FLVCR1-AS1,FMN2,GALNT2,GCSAML,GCSAML-AS1,GGPS1,GJC2,GNG4,GNPAT,GPATCH2,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,IARS2,IBA57,INTS7,IRF2BP2,ITPKB,JMJD4,KCNK1,KCNK2,KCTD3,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00210,LINC00467,LINC00538,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC643723,LOC728463,LOC731275,LPGAT1,LYPD8,LYPLAL1,LYST,MAP1LC3C,MARC1,MARC2,MARK1,MIA3,MIR1182,MIR1537,MIR194-1,MIR215,MIR3122,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3916,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR664,MIXL1,MRPL55,MTR,NEK2,NENF,NID1,NLRP3,NSL1,NTPCR,NUP133,NVL,OBSCN,OPN3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PARP1,PCNXL2,PGBD2,PGBD5,PLD5,PPP2R5A,PROX1,PRSS38,PSEN2,PTPN14,PYCR2,RAB3GAP2,RAB4A,RBM34,RD3,RGS7,RHOU,RNF187,RNU5F-1,RPS6KC1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SH3BP5L,SIPA1L2,SLC30A1,SLC30A10,SLC35F3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA16B,SNORA36B,SNRPD2P2,SPATA17,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TATDN3,TBCE,TFB2M,TGFB2,TLR5,TMEM206,TMEM63A,TOMM20,TP53BP2,TRAF5,TRIM11,TRIM17,TRIM58,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,USH2A,VASH2,VN1R5,WDR26,WDR64,WNT3A,WNT9A,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr12 115004758 115004864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115070748 115070842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 11507280 15168042 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf60,C12orf69,CDKN1B,CREBL2,DDX47,DUSP16,EMP1,ERP27,ETV6,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,LOC100506314,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MGP,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,PDE6H,PLBD1,PRB1,PRB2,RNU6-19,RPL13AP20,WBP11 chr12 115102996 115103066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115108165 115108233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBX3 chr12 115159869 115199274 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr12 115200501 115270500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 115216201 119264200 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf49,FBXO21,FBXW8,HRK,KSR2,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,MIR620,NOS1,PEBP1,RFC5,RNFT2,SUDS3,TAOK3,TESC,VSIG10,WSB2 chr12 115270501 115808000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 115301720 115301820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115371934 115372123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 115396266 115396365 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 115411449 116537177 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MED13L chr12 115433947 115436046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115441468 115441568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115450063 115450355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 115450714 115450797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115455610 115457709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115455610 115457709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115476468 115476845 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115481569 115498808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115519285 115519374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115534447 115553981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 115554340 115587935 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 115559073 115559156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11557033 11557707 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115571249 115572587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 115572620 115572710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115616316 115638563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115637981 115660226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115637981 115660226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115638836 115753466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115660479 115775819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115660479 115775819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115681822 115681897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115682630 115682733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115682631 115682733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115704293 115704396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115730876 115731046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115731082 115731295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115749944 115784897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 115761368 115761468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115761748 115781952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115783411 115803615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115783411 115803615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115806187 115806287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 115808001 115946000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 115811481 115931673 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115833144 115953336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115833144 115953336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115852234 115885426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 11586124 11586246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115888012 115888069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11590681 11590741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115907647 115920490 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 115907647 115941747 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 115939452 116000157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 115946001 116043500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 115948370 115948563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 115961113 116021634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 115961113 116021634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 116042432 116042477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 116043501 116052000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 116044306 116090982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 116052001 116064000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 116064001 116111500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 116065969 116112683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 116065969 116112683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 116111499 116262302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 116113251 116281000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 116120497 116283965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 116120497 116283965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 116141671 116141771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11619584 12112117 Deletion Acute lymphoblastic leukemia Affymetrix Genome-Wide Human SNP Array 6.0 21680795 ETV6,LOC338817,RNU6-19 chr12 116219950 116220049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 116253335 116282539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 116265062 116280891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 116267396 116284876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 116267576 116285932 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 116272598 116272666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 116286001 116360500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 116302143 116302213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 116320788 116320842 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr12 116358334 117252811 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf49,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,MIR620,RNFT2 chr12 116360501 116362000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 116362001 116392250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 116370183 116756061 Gain and loss Pancreatic cancer SNP array 17952125 MED13L,MIR620 chr12 116375199 116890411 Copy number Lung cancer - 20668451 MED13L,MIR4472-2,MIR620 chr12 116375199 116890411 Gain or loss Breast cancer - 20668451 MED13L,MIR4472-2,MIR620 chr12 116375199 116890411 Gain or loss Cancer - 20668451 MED13L,MIR4472-2,MIR620 chr12 116375199 116890411 Gain or loss Lung cancer - 20668451 MED13L,MIR4472-2,MIR620 chr12 116375199 116890411 Gain or loss Ovarian cancer - 20668451 MED13L,MIR4472-2,MIR620 chr12 116375199 116890411 Gain or loss Pancreas cancer - 20668451 MED13L,MIR4472-2,MIR620 chr12 116375199 116890411 Gain or loss Prostate cancer - 20668451 MED13L,MIR4472-2,MIR620 chr12 116387942 116387997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 116390010 116777724 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MED13L,MIR620 chr12 116390010 116777724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED13L,MIR620 chr12 116390010 116777724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED13L,MIR620 chr12 116392251 119009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf49,FBXO21,FBXW8,HRK,KSR2,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,MIR620,NOS1,PEBP1,RFC5,RNFT2,SUDS3,TAOK3,TESC,VSIG10,WSB2 chr12 116410977 116411077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED13L chr1 211644993 211797556 Gain and loss Pancreatic cancer SNP array 17952125 RD3,SLC30A1 chr12 116472632 116494067 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MED13L chr1 211651746 211651846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RD3 chr12 116533707 116535910 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MED13L chr12 116568028 116607728 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MED13L,MIR620 chr12 116589709 116589788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED13L chr12 11668570 11669570 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 211668674 211669043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 211668674 211669043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 211669607 211669705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 116696634 116696716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED13L chr12 116700000 119100000 Amplification Lung adenocarcinoma fluorescence in situ hybridisation (FISH) and immunohistochemistry (IHC) 21045234 C12orf49,FBXO21,FBXW8,HRK,KSR2,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,NOS1,PEBP1,RFC5,RNFT2,SUDS3,TAOK3,TESC,VSIG10,WSB2 chr12 116700000 119100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C12orf49,FBXO21,FBXW8,HRK,KSR2,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,NOS1,PEBP1,RFC5,RNFT2,SUDS3,TAOK3,TESC,VSIG10,WSB2 chr12 116700000 132349534 Copy number Breast cancer - 21806811 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf49,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,FBXO21,FBXW8,FLJ31485,FLJ37505,FZD10,GATC,GCN1L1,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,IL31,KDM2B,KNTC1,KSR2,LINC00173,LINC00507,LOC100128554,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MAP1LC3B2,MED13L,MIR1178,MIR3612,MIR3908,MIR4304,MIR4472-2,MIR4498,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,NOS1,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RAN,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPLP0,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNRNP35,SPPL3,SRRM4,SRSF9,STX2,SUDS3,TAOK3,TCTN2,TESC,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,VSIG10,WDR66,WSB2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 116711159 117645454 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf49,FBXO21,FBXW8,HRK,LINC00173,MAP1LC3B2,MED13L,MIR4472-2,RNFT2,TESC chr12 116738355 116738455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11677862 11677962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11678312 12832121 Deletion Acute myeloid leukemia - 21251322 BCL2L14,CREBL2,DUSP16,ETV6,GPR19,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,RNU6-19 chr12 11678312 16080981 Deletion Acute myeloid leukemia - 21251322 APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf60,C12orf69,CDKN1B,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETV6,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,LOC100506314,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MGP,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,PDE6H,PLBD1,PTPRO,RERG,RNU6-19,RPL13AP20,STRAP,WBP11 chr12 11679256 18534382 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf60,C12orf69,CDKN1B,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETV6,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,LMO3,LOC100506314,LOC338817,LOH12CR1,LOH12CR2,LRP6,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,PDE6H,PIK3C2G,PLBD1,PTPRO,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,STRAP,WBP11 chr12 116801217 116833216 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 116803597 116803677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11686468 11687468 Loss Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr12 11686468 11687468 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 211690411 211690498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 116917230 116932758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 116931468 116932884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 116933219 116961671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 116938893 116954421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 116938893 116954421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 116938893 116954421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 11694054 11935819 Amplification or deletion Cancer Array CGH 17440070 ETV6,LOC338817 chr12 11694054 12159528 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Deletion Acute lymphoblastic leukemia 250k Sty and Nsp SNP arrays 19129520 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Deletion Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Gain or loss Breast cancer - 20668451 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Gain or loss Cancer - 20668451 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Gain or loss Lung cancer - 20668451 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Gain or loss Ovarian cancer - 20668451 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Gain or loss Pancreas cancer - 20668451 ETV6,LOC338817,RNU6-19 chr12 11694054 12159528 Gain or loss Prostate cancer - 20668451 ETV6,LOC338817,RNU6-19 chr12 11694055 11939588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ETV6,LOC338817 chr12 11694055 11939588 Gain and loss Pancreatic cancer SNP array 17952125 ETV6,LOC338817 chr12 11694055 11939588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETV6,LOC338817 chr12 11694197 11694360 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr12 11695453 11730241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC338817 chr12 116954882 116983334 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00173 chr12 116954882 116983334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00173 chr12 116954882 116983334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00173 chr12 116955326 116955682 Copy number Ewing's sarcoma Array CGH 19144156 NOT_FOUND chr12 116962435 116962788 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 116964124 117004560 Gain and loss Pancreatic cancer SNP array 17952125 LINC00173,MAP1LC3B2 chr12 11698451 11884405 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ETV6,LOC338817 chr12 116987865 117026136 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAP1LC3B2 chr12 116987865 117026136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP1LC3B2 chr12 116987865 117026136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP1LC3B2 chr12 117000317 117000417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP1LC3B2 chr12 117036590 117046107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 117051500 117273381 Gain and loss Pancreatic cancer SNP array 17952125 C12orf49,RNFT2 chr12 117058252 117067773 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 117058252 117067773 Gain or loss Cancer - 20668451 NOT_FOUND chr12 117058252 117067773 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 117058252 117067773 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 117058252 117067773 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 117058252 117067773 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 117058253 117067770 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 117058253 117067770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 117058253 117067770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 117065984 132369258 Loss or gain Non-syndromic sensorineural hearing loss array CGH 18496225 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf49,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,FBXO21,FBXW8,FLJ31485,FLJ37505,FZD10,GATC,GCN1L1,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSPB8,IL31,KDM2B,KNTC1,KSR2,LINC00507,LOC100128554,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MIR1178,MIR3612,MIR3908,MIR4304,MIR4498,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,NOS1,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PEBP1,PITPNM2,PIWIL1,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RAN,RFC5,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPLP0,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNRNP35,SPPL3,SRRM4,SRSF9,STX2,SUDS3,TAOK3,TCTN2,TESC,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,VSIG10,WDR66,WSB2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 117071992 117295133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf49,RNFT2 chr12 117072527 117294934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C12orf49,RNFT2 chr12 117088987 117089059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 117115016 117115093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 117146597 117147527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 211715402 211715487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 117156651 117156751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf49 chr12 117273573 117273668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNFT2 chr12 117277095 117318243 Gain and loss Pancreatic cancer SNP array 17952125 HRK,RNFT2 chr12 117280197 117280272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNFT2 chr12 117298741 117340223 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HRK chr12 117298741 117340223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HRK chr12 117298741 117340223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HRK chr12 11739760 11904839 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ETV6 chr12 117451249 117451349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXW8 chr12 117531550 117533445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TESC chr12 117730206 117730295 Gain and loss Pancreatic cancer SNP array 17952125 NOS1 chr12 117730207 117730318 Gain and loss Pancreatic cancer SNP array 17952125 NOS1 chr12 117730977 117731077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOS1 chr12 117751874 117751984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOS1 chr12 117788959 117789089 Gain and loss Pancreatic cancer SNP array 17952125 NOS1 chr12 117788960 117789088 Gain and loss Pancreatic cancer SNP array 17952125 NOS1 chr12 117810622 117810752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 117814443 117814694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 117814448 117814569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 117825008 117825108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11785422 11800101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 11787382 11852551 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ETV6 chr12 117877116 117877195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 117882116 118063577 Gain and loss Pancreatic cancer SNP array 17952125 KSR2 chr12 117894382 117894684 Gain and loss Pancreatic cancer SNP array 17952125 KSR2 chr12 117903779 118085240 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KSR2 chr12 117903779 118085240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KSR2 chr12 117903779 118085240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR2 chr12 117916045 117916347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR2 chr12 117925076 117927182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KSR2 chr12 117937520 117937615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR2 chr12 117961808 117961908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR2 chr12 117965214 117965314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR2 chr12 117976145 117976245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR2 chr12 117998997 117999097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR2 chr12 118038381 118066715 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KSR2 chr12 118038832 118083860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KSR2 chr12 118041732 118054301 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KSR2 chr12 118041732 118066715 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KSR2 chr12 118079315 118095270 Gain and loss Pancreatic cancer SNP array 17952125 KSR2 chr12 118095375 118095919 Gain and loss Pancreatic cancer SNP array 17952125 KSR2 chr12 118100977 118116934 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 KSR2 chr12 118100978 118116933 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KSR2 chr12 118100978 118116933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KSR2 chr12 118100978 118116933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR2 chr12 118116 157881 Gain and loss Pancreatic cancer SNP array 17952125 FAM138D chr12 118117032 118117582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR2 chr12 118186932 118187022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR2 chr12 118235237 118441571 Gain and loss Pancreatic cancer SNP array 17952125 KSR2 chr12 118256900 118463234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KSR2,RFC5 chr12 118256900 118463234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KSR2,RFC5 chr12 118256900 118463234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR2,RFC5 chr12 118263350 118299115 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KSR2 chr1 211831053 211853622 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEK2 chr12 118337442 118337542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR2 chr1 211834045 211834128 Copy number Normal Paralogue Ratio Test systems 17175532 NEK2 chr12 118354623 118713175 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KSR2,PEBP1,RFC5,TAOK3,VSIG10,WSB2 chr12 118354623 118713175 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KSR2,PEBP1,RFC5,TAOK3,VSIG10,WSB2 chr12 118386187 118386501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KSR2 chr12 118473258 118475132 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 WSB2 chr12 118496612 119317672 LOH Normal High-resolution SNP genotyping 21211785 PEBP1,SUDS3,TAOK3,VSIG10,WSB2 chr1 211849662 211849806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 118502980 118503083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VSIG10 chr12 11852551 21227923 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf60,C12orf69,CAPZA3,CDKN1B,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETV6,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,LMO3,LOC100506314,LOC100506393,LOH12CR1,LOH12CR2,LRP6,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PTPRO,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1B3,SLCO1B7,SLCO1C1,STRAP,WBP11 chr12 11853840 11973714 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ETV6,RNU6-19 chr12 118568481 118582148 Gain and loss Pancreatic cancer SNP array 17952125 PEBP1 chr12 118581898 118581998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEBP1 chr12 118586318 118777812 Gain and loss Pancreatic cancer SNP array 17952125 TAOK3 chr12 118587336 118587405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 118590139 118603812 Gain or loss Breast cancer - 20668451 TAOK3 chr12 118590139 118603812 Gain or loss Cancer - 20668451 TAOK3 chr12 118590139 118603812 Gain or loss Lung cancer - 20668451 TAOK3 chr12 118590139 118603812 Gain or loss Ovarian cancer - 20668451 TAOK3 chr12 118590139 118603812 Gain or loss Pancreas cancer - 20668451 TAOK3 chr12 118590139 118603812 Gain or loss Prostate cancer - 20668451 TAOK3 chr12 118590144 118603799 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAOK3 chr12 118590144 118603799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAOK3 chr12 118590144 118603799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAOK3 chr12 118607980 118799475 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 TAOK3 chr12 118607981 118799475 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAOK3 chr12 118607981 118799475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAOK3 chr12 118607981 118799475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAOK3 chr12 118635760 118635860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAOK3 chr12 118635822 118635912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAOK3 chr12 118651670 118651770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAOK3 chr12 118658361 118658461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAOK3 chr12 118689478 118714278 Copy number Schizophrenia - 18511947 TAOK3 chr1 21187394 21187512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF4G3 chr12 118794760 118794855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAOK3 chr12 118829793 119149377 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 SUDS3 chr12 118839972 118842190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUDS3 chr12 118873847 118874115 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 118890368 118995017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 118912031 119016682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 118912031 119016682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 118912031 119016682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 118919423 118919785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 118922337 118922374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 118941086 118941448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 118955466 118961847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 118995626 119017319 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119012815 122594513 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ACADS,ANAPC5,BCL7A,C12orf43,CABP1,CAMKK2,CCDC60,CCDC64,CIT,COQ5,COX6A1,DYNLL1,GATC,GCN1L1,HNF1A,HNF1A-AS1,HPD,HSPB8,KDM2B,LOC100506668,LOC144742,LOC338799,MIR1178,MIR4498,MIR4700,MLEC,MLXIP,MORN3,MSI1,OASL,ORAI1,P2RX4,P2RX7,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RHOF,RNF10,RNF34,RPLP0,SETD1B,SIRT4,SPPL3,SRRM4,SRSF9,TMEM120B,TMEM233,TRIAP1,UNC119B,WDR66 chr12 119017289 119038982 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119017289 119038982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119017289 119038982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119022828 119022890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119026001 119134000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 119027793 119095232 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119040684 132349534 Gain Prostate cancer Array CGH 18632612 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,FLJ31485,FLJ37505,FZD10,GATC,GCN1L1,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HSPB8,IL31,KDM2B,KNTC1,LINC00507,LOC100128554,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MIR1178,MIR3612,MIR3908,MIR4304,MIR4498,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PIWIL1,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RPLP0,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNRNP35,SPPL3,SRRM4,SRSF9,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 119040797 119040881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119049399 119116896 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119049399 119116896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119049399 119116896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 11906685 11906785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETV6 chr12 119073291 119073382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119076374 119076469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119093709 119095560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 119097223 119101734 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119100000 124500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,C12orf43,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DIABLO,DNAH10,DYNLL1,EIF2B1,GATC,GCN1L1,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HSPB8,IL31,KDM2B,KNTC1,LOC100506668,LOC100507066,LOC100507091,LOC144742,LOC338799,LRRC43,MIR1178,MIR3908,MIR4304,MIR4498,MIR4700,MLEC,MLXIP,MORN3,MPHOSPH9,MSI1,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RHOF,RILPL1,RILPL2,RNF10,RNF34,RPLP0,RSRC2,SBNO1,SETD1B,SETD8,SIRT4,SNRNP35,SPPL3,SRRM4,SRSF9,TCTN2,TMED2,TMEM120B,TMEM233,TRIAP1,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 119100000 124500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,C12orf43,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DIABLO,DNAH10,DYNLL1,EIF2B1,GATC,GCN1L1,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HSPB8,IL31,KDM2B,KNTC1,LOC100506668,LOC100507066,LOC100507091,LOC144742,LOC338799,LRRC43,MIR1178,MIR3908,MIR4304,MIR4498,MIR4700,MLEC,MLXIP,MORN3,MPHOSPH9,MSI1,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RHOF,RILPL1,RILPL2,RNF10,RNF34,RPLP0,RSRC2,SBNO1,SETD1B,SETD8,SIRT4,SNRNP35,SPPL3,SRRM4,SRSF9,TCTN2,TMED2,TMEM120B,TMEM233,TRIAP1,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 119100000 124500000 Microdeletion Beckwith-Wiedemann syndrome Array comparative genomic hybridization 20648245 ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,C12orf43,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DIABLO,DNAH10,DYNLL1,EIF2B1,GATC,GCN1L1,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HSPB8,IL31,KDM2B,KNTC1,LOC100506668,LOC100507066,LOC100507091,LOC144742,LOC338799,LRRC43,MIR1178,MIR3908,MIR4304,MIR4498,MIR4700,MLEC,MLXIP,MORN3,MPHOSPH9,MSI1,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RHOF,RILPL1,RILPL2,RNF10,RNF34,RPLP0,RSRC2,SBNO1,SETD1B,SETD8,SIRT4,SNRNP35,SPPL3,SRRM4,SRSF9,TCTN2,TMED2,TMEM120B,TMEM233,TRIAP1,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 119100000 132349534 Deletion developmental delay array-CGH (aCGH) 21457577 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,FLJ31485,FLJ37505,FZD10,GATC,GCN1L1,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HSPB8,IL31,KDM2B,KNTC1,LINC00507,LOC100128554,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MIR1178,MIR3612,MIR3908,MIR4304,MIR4498,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PIWIL1,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RPLP0,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNRNP35,SPPL3,SRRM4,SRSF9,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 119100000 132349534 Deletion Developmental delay Human Genome CGH Microarray Kit 244A 21457577 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,FLJ31485,FLJ37505,FZD10,GATC,GCN1L1,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HSPB8,IL31,KDM2B,KNTC1,LINC00507,LOC100128554,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MIR1178,MIR3612,MIR3908,MIR4304,MIR4498,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PIWIL1,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RPLP0,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNRNP35,SPPL3,SRRM4,SRSF9,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 119100000 132349534 Deletion dysmorphic Human Genome CGH Microarray Kit 244A 21457577 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,FLJ31485,FLJ37505,FZD10,GATC,GCN1L1,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HSPB8,IL31,KDM2B,KNTC1,LINC00507,LOC100128554,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MIR1178,MIR3612,MIR3908,MIR4304,MIR4498,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PIWIL1,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RPLP0,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNRNP35,SPPL3,SRRM4,SRSF9,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 119100000 132349534 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC60,CCDC62,CCDC64,CCDC92,CDK2AP1,CIT,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,FLJ31485,FLJ37505,FZD10,GATC,GCN1L1,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,HSPB8,IL31,KDM2B,KNTC1,LINC00507,LOC100128554,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MIR1178,MIR3612,MIR3908,MIR4304,MIR4498,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PIWIL1,PLA2G1B,POP5,PRKAB1,PSMD9,PXN,PXN-AS1,RAB35,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RPLP0,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNRNP35,SPPL3,SRRM4,SRSF9,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 119110971 119150677 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119118893 119123397 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119118893 119123397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119118893 119123397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119119857 119120377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119132632 119187946 Amplification Lung cancer FISH 18172305 NOT_FOUND chr12 119132632 119187946 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 119132632 119187946 Gain or loss Cancer - 20668451 NOT_FOUND chr12 119132632 119187946 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 119132632 119187946 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 119132632 119187946 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 119132632 119187946 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 119132637 119187904 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119132637 119187904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119132637 119187904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119144568 119162198 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 119152827 119186084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 119154001 119503000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SRRM4 chr12 119156402 119156502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 11916630 11919012 Copy number Alcoholism Illumina Human Hap664W-Quad BeadChip 21790672 ETV6 chr12 11916630 11919012 Copy number Normal - 21790672 ETV6 chr12 11917683 11918421 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ETV6 chr12 119182826 119183239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119192283 119192426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119192286 119192426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119193617 119193760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119193620 119193760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119200586 119200894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119202883 119213767 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119204323 119205015 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119204323 119205015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119204323 119205015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119208203 119208322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119213747 119213864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119213765 119213864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119213949 119214089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119215283 119215423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119222635 119228312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119224546 119235430 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119224546 119235430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119224546 119235430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119241853 119269678 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119244298 119249975 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119244298 119249975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119263516 119291341 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119263516 119291341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119263516 119291341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119272050 119272150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119280834 119280934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21193003 21193103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF4G3 chr12 119329798 119329878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119338624 119341252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119344485 119346935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119346967 119362109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119360287 119362915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119360287 119362915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119360287 119362915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119362192 119370278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119364481 119366859 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 119365766 119365816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119366148 119368598 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119366148 119368598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119366148 119368598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119368630 119383772 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119368653 119383754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119368653 119383754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119372622 119372989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119383855 119391941 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119383855 119391941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119383855 119391941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119392043 119420680 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRRM4 chr12 119392043 119420680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119392043 119420680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119395013 119809110 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC60,HSPB8,LOC144742,SRRM4 chr12 119395013 119809110 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC60,HSPB8,LOC144742,SRRM4 chr12 119396653 119399010 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119396689 119398739 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119403803 119429673 Gain and loss Pancreatic cancer SNP array 17952125 SRRM4 chr12 11940469 11940569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETV6 chr12 119405096 119405182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119425466 119451347 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRRM4 chr12 119425466 119451347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119425466 119451347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119426756 119426845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119426759 119426845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119434875 119478077 Gain and loss Pancreatic cancer SNP array 17952125 SRRM4 chr12 119436144 119436244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRRM4 chr12 119436403 119481161 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRRM4 chr12 119456515 119499779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119456515 119499779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119456538 119499740 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRRM4 chr12 119462887 119462980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRRM4 chr12 119467889 119467989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRRM4 chr12 119479569 119481921 Gain and loss Pancreatic cancer SNP array 17952125 SRRM4 chr12 119480817 119515397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRRM4 chr12 119494535 119495071 Gain and loss Pancreatic cancer SNP array 17952125 SRRM4 chr12 119501232 119503584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRRM4 chr12 119501232 119503584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119501232 119503584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119503001 119608500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SRRM4 chr12 11951141 11951236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETV6,RNU6-19 chr12 119516198 119516734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119535503 120164112 LOH Normal High-resolution SNP genotyping 21211785 CCDC60,CIT,HSPB8,LOC144742,MIR1178,PRKAB1,SRRM4,TMEM233 chr12 119541142 119567845 Gain and loss Pancreatic cancer SNP array 17952125 SRRM4 chr12 119555316 119555952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SRRM4 chr12 119562805 119589508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRRM4 chr12 119562805 119589508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119562805 119589508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM4 chr12 119587669 119602387 Gain and loss Pancreatic cancer SNP array 17952125 SRRM4 chr12 119608501 119610500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 119609332 119624050 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HSPB8 chr12 119609332 119624050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPB8 chr12 119609332 119624050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPB8 chr12 119610501 119659000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSPB8 chr12 119610981 119624162 Gain and loss Pancreatic cancer SNP array 17952125 HSPB8 chr12 119626362 119640530 Gain and loss Pancreatic cancer SNP array 17952125 HSPB8 chr12 119632644 119645825 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119632644 119645825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119632644 119645825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119648025 119662193 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119648025 119662193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119648025 119662193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119659001 119664500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 119663756 119804871 Gain and loss Pancreatic cancer SNP array 17952125 CCDC60,LOC144742 chr12 119664501 119670500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 119670501 119825500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC60,LOC144742 chr1 211967734 211970392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LPGAT1 chr12 119685419 119826534 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC60,LOC144742 chr12 119685419 119826534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC60,LOC144742 chr12 119685588 119686150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 119685588 119686150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119685588 119686150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 119745632 119746170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 119750295 119750395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 119753085 119833032 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CCDC60 chr12 119767295 119767833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 1197759 7990779 Substitutions and indels small cell lung cancer array-CGH 20016488 ACRBP,ACSM4,ADIPOR2,AKAP3,ANO2,APOBEC1,ATN1,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD9,CDCA3,CHD4,CLEC4C,CLSTN3,COPS7A,DCP1B,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,FBXL14,FGF23,FGF6,FKBP4,FOXM1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,ITFG2,KCNA1,KCNA5,KCNA6,LAG3,LEPREL2,LOC100271702,LOC100292680,LOC100507424,LOC283440,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NOP2,NRIP2,NTF3,PARP11,PEX5,PHB2,PIANP,PLEKHG6,PRMT8,PTMS,PTPN6,RAD51AP1,RBP5,RHNO1,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SPSB2,TAPBPL,TEAD4,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNT5B,ZNF384 chr12 119801305 119835375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC60 chr12 119814951 119815649 Gain and loss Pancreatic cancer SNP array 17952125 CCDC60 chr12 119819647 119819747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC60 chr12 119825501 120221000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC60,CIT,MIR1178,PRKAB1,TMEM233 chr12 119828501 119852265 Amplification or deletion Cancer Array CGH 17440070 CCDC60 chr12 119836614 119837312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC60 chr12 119867856 119867948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC60 chr12 119872039 119872443 Gain and loss Pancreatic cancer SNP array 17952125 CCDC60 chr12 119878565 120047533 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC60,TMEM233 chr12 119879269 119903032 Gain and loss Pancreatic cancer SNP array 17952125 CCDC60 chr12 119886151 119886424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC60 chr12 119893702 119894106 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC60 chr12 1 19900000 Loss Glioblastoma multiforme aCGH 21080181 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ART4,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PZP,RAD51AP1,RAD52,RBP5,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 119900754 119924695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC60 chr12 119900754 119924695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC60 chr12 119900931 119924697 Gain or loss Breast cancer - 20668451 CCDC60 chr12 119900931 119924697 Gain or loss Cancer - 20668451 CCDC60 chr12 119900931 119924697 Gain or loss Lung cancer - 20668451 CCDC60 chr12 119900931 119924697 Gain or loss Ovarian cancer - 20668451 CCDC60 chr12 119900931 119924697 Gain or loss Pancreas cancer - 20668451 CCDC60 chr12 119900931 119924697 Gain or loss Prostate cancer - 20668451 CCDC60 chr12 119900932 119924695 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC60 chr12 119903568 119917020 Gain and loss Pancreatic cancer SNP array 17952125 CCDC60 chr12 119920815 119939501 Gain and loss Pancreatic cancer SNP array 17952125 CCDC60 chr12 119925231 119938683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC60 chr12 119925231 119938683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC60 chr12 119925231 119938683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC60 chr12 119942504 119961342 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC60 chr12 119942504 119961342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC60 chr12 119942504 119961342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC60 chr1 21200000 26300000 Amplification Lung cancer aCGH 21911935 ALPL,ASAP3,AUNIP,C1QA,C1QB,C1QC,C1orf213,C1orf63,CDC42,CELA3A,CELA3B,CLIC4,CNR2,E2F2,ECE1,EIF4G3,EPHA8,EPHB2,FAM54B,FUCA1,GALE,GRHL3,HMGCL,HNRNPR,HSPG2,HTR1D,ID3,IL22RA1,IL28RA,KDM1A,LDLRAD2,LDLRAP1,LINC00339,LOC100506801,LOC100506963,LOC284632,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MDS2,MIR3115,MIR378F,MIR3917,MIR4253,MIR4684,MYOM3,NBPF3,NCMAP,NIPAL3,PAFAH2,PAQR7,PITHD1,PNRC2,RAP1GAP,RCAN3,RCAN3AS,RHCE,RHD,RPL11,RUNX3,SEPN1,SRRM1,SRSF10,STMN1,STPG1,SYF2,TCEA3,TCEB3,TMEM50A,TMEM57,USP48,WNT4,ZBTB40,ZNF436 chr12 120007566 120007697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 120007569 120007697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 120020215 120026749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 120020328 120022886 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 120027356 120045435 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM233 chr12 120029229 120029360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 120033398 120086576 Gain and loss Pancreatic cancer SNP array 17952125 TMEM233 chr12 120055060 120108241 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 PRKAB1,TMEM233 chr12 120055061 120108239 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKAB1,TMEM233 chr12 120055061 120108239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKAB1,TMEM233 chr12 120055061 120108239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKAB1,TMEM233 chr12 120110384 120134627 Gain and loss Pancreatic cancer SNP array 17952125 CIT,PRKAB1 chr12 120132047 120156290 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CIT,MIR1178 chr12 120132047 120156290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIT,MIR1178 chr12 120132047 120156290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIT,MIR1178 chr12 120138217 120198831 Gain and loss Pancreatic cancer SNP array 17952125 CIT,MIR1178 chr12 120157107 121370706 LOH Normal High-resolution SNP genotyping 21211785 ACADS,CABP1,CCDC64,CIT,COQ5,COX6A1,DYNLL1,GATC,GCN1L1,LOC100506668,MIR4498,MIR4700,MLEC,MSI1,PLA2G1B,POP5,PXN,PXN-AS1,RAB35,RNF10,RPLP0,SIRT4,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120159880 120220494 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CIT chr12 120159880 120220494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIT chr12 120159880 120220494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIT chr12 120197884 121212067 LOH Normal High-resolution SNP genotyping 21211785 ACADS,CABP1,CCDC64,CIT,COQ5,COX6A1,DYNLL1,GATC,GCN1L1,LOC100506668,MIR4498,MIR4700,MLEC,MSI1,PLA2G1B,POP5,PXN,PXN-AS1,RAB35,RNF10,RPLP0,SIRT4,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120203844 121370706 LOH Normal High-resolution SNP genotyping 21211785 ACADS,CABP1,CCDC64,CIT,COQ5,COX6A1,DYNLL1,GATC,GCN1L1,LOC100506668,MIR4498,MIR4700,MLEC,MSI1,PLA2G1B,POP5,PXN,PXN-AS1,RAB35,RNF10,RPLP0,SIRT4,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120208881 120252922 Gain and loss Pancreatic cancer SNP array 17952125 CIT chr12 120214080 121370706 LOH Normal High-resolution SNP genotyping 21211785 ACADS,CABP1,CCDC64,CIT,COQ5,COX6A1,DYNLL1,GATC,GCN1L1,LOC100506668,MIR4498,MIR4700,MLEC,MSI1,PLA2G1B,POP5,PXN,PXN-AS1,RAB35,RNF10,RPLP0,SIRT4,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120219885 121370706 LOH Normal High-resolution SNP genotyping 21211785 ACADS,CABP1,CCDC64,CIT,COQ5,COX6A1,DYNLL1,GATC,GCN1L1,LOC100506668,MIR4498,MIR4700,MLEC,MSI1,PLA2G1B,POP5,PXN,PXN-AS1,RAB35,RNF10,RPLP0,SIRT4,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120221001 120361000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CIT chr12 120224829 121370706 LOH Normal High-resolution SNP genotyping 21211785 ACADS,CABP1,CCDC64,CIT,COQ5,COX6A1,DYNLL1,GATC,GCN1L1,LOC100506668,MIR4498,MIR4700,MLEC,MSI1,PLA2G1B,POP5,PXN,PXN-AS1,RAB35,RNF10,RPLP0,SIRT4,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120230544 120274585 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CIT chr12 120230544 120274585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIT chr12 120230544 120274585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIT chr1 21202630 21203014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF4G3 chr12 120284481 120284589 Loss Normal 244K array 17666407 CIT chr12 120300622 120324875 Gain and loss Pancreatic cancer SNP array 17952125 CIT chr12 120314623 120314669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CIT chr12 120322227 120346538 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 120322304 120346538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 120322304 120346538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 120330800 120481609 Gain and loss Pancreatic cancer SNP array 17952125 CCDC64 chr12 120351281 120503272 Gain or loss Breast cancer - 20668451 CCDC64 chr12 120351281 120503272 Gain or loss Cancer - 20668451 CCDC64 chr12 120351281 120503272 Gain or loss Lung cancer - 20668451 CCDC64 chr12 120351281 120503272 Gain or loss Ovarian cancer - 20668451 CCDC64 chr12 120351281 120503272 Gain or loss Pancreas cancer - 20668451 CCDC64 chr12 120351281 120503272 Gain or loss Prostate cancer - 20668451 CCDC64 chr12 120351285 120503272 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC64 chr12 120351285 120503272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC64 chr12 120351285 120503272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC64 chr12 120361001 120687500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC64,GCN1L1,MIR4498,PXN,PXN-AS1,RAB35,RPLP0 chr12 120365275 120365375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 212040354 212041721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 120414511 120422373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 120426 213890 Gain Stenocardia MACArray Karyo 61K BAC-chips 21860640 FAM138D,IQSEC3 chr12 120426 213890 Gain Vasospasm MACArray Karyo 61K BAC-chips 21860640 FAM138D,IQSEC3 chr12 120448368 120448433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC64 chr12 120477483 120477583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC64 chr12 120505534 120505624 Gain and loss Pancreatic cancer SNP array 17952125 CCDC64 chr12 120527197 120527287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC64 chr12 120527496 120543303 Gain and loss Pancreatic cancer SNP array 17952125 CCDC64,RAB35 chr12 12052808 14104370 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APOLD1,BCL2L14,C12orf36,CDKN1B,CREBL2,DDX47,DUSP16,EMP1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,HEBP1,HTR7P1,KIAA1467,LOC100506314,LOH12CR1,LOH12CR2,LRP6,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,RNU6-19,RPL13AP20 chr12 120537344 120537427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB35 chr12 120548858 120564321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB35 chr12 120548858 120564321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB35 chr12 120552017 120573257 Gain and loss Pancreatic cancer SNP array 17952125 GCN1L1,RAB35 chr12 120573680 120591943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GCN1L1 chr12 120573680 120591943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GCN1L1 chr12 120592325 120592399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCN1L1 chr12 120613378 120679076 Gain and loss Pancreatic cancer SNP array 17952125 GCN1L1,PXN,PXN-AS1,RPLP0 chr12 120628928 120862589 Gain Autism - 20841430 GCN1L1,MSI1,PLA2G1B,PXN,PXN-AS1,RPLP0,SIRT4 chr12 120635163 120698088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PXN,PXN-AS1,RPLP0 chr12 120635163 120698088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PXN,PXN-AS1,RPLP0 chr12 120663937 120681272 Gain and loss Pancreatic cancer SNP array 17952125 PXN chr12 120669489 120697536 Gain and loss Pancreatic cancer SNP array 17952125 PXN chr12 120678382 120694314 Gain and loss Pancreatic cancer SNP array 17952125 PXN chr12 120691105 121240348 LOH Normal High-resolution SNP genotyping 21211785 ACADS,CABP1,COQ5,COX6A1,DYNLL1,GATC,LOC100506668,MIR4700,MLEC,MSI1,PLA2G1B,POP5,PXN,RNF10,SIRT4,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120691152 120691865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PXN chr12 120696443 120697168 Gain and loss Pancreatic cancer SNP array 17952125 PXN chr12 120696873 120697341 Loss Normal 244K array 17666407 PXN chr12 120697244 120742145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PXN,SIRT4 chr12 120699393 120702935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PXN chr12 120700000 125900000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC62,CCDC92,CDK2AP1,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,GATC,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,KNTC1,LOC100506668,LOC100507066,LOC100507091,LOC338799,LRRC43,MIR3908,MIR4304,MIR4700,MIR5188,MLEC,MLXIP,MORN3,MPHOSPH9,MSI1,NCOR2,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PLA2G1B,POP5,PSMD9,PXN,RHOF,RILPL1,RILPL2,RNF10,RNF34,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SIRT4,SNRNP35,SPPL3,SRSF9,TCTN2,TMED2,TMEM120B,TMEM132B,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 120700000 125900000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC62,CCDC92,CDK2AP1,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,GATC,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,KNTC1,LOC100506668,LOC100507066,LOC100507091,LOC338799,LRRC43,MIR3908,MIR4304,MIR4700,MIR5188,MLEC,MLXIP,MORN3,MPHOSPH9,MSI1,NCOR2,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PLA2G1B,POP5,PSMD9,PXN,RHOF,RILPL1,RILPL2,RNF10,RNF34,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SIRT4,SNRNP35,SPPL3,SRSF9,TCTN2,TMED2,TMEM120B,TMEM132B,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 120700000 125900000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 AACS,ABCB9,ACADS,ANAPC5,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC62,CCDC92,CDK2AP1,CLIP1,COQ5,COX6A1,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,FAM101A,GATC,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,KNTC1,LOC100506668,LOC100507066,LOC100507091,LOC338799,LRRC43,MIR3908,MIR4304,MIR4700,MIR5188,MLEC,MLXIP,MORN3,MPHOSPH9,MSI1,NCOR2,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PITPNM2,PLA2G1B,POP5,PSMD9,PXN,RHOF,RILPL1,RILPL2,RNF10,RNF34,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SIRT4,SNRNP35,SPPL3,SRSF9,TCTN2,TMED2,TMEM120B,TMEM132B,TRIAP1,UBC,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 120700000 133851895 Gain Breast cancer Microarray-based CGH 17133270 AACS,ABCB9,ACADS,ANAPC5,ANHX,ANKLE2,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC62,CCDC92,CDK2AP1,CHFR,CLIP1,COQ5,COX6A1,DDX51,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,EP400,EP400NL,FAM101A,FBRSL1,FLJ31485,FLJ37505,FZD10,GALNT9,GATC,GLT1D1,GOLGA3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,KNTC1,LINC00507,LOC100128554,LOC100130238,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC338799,LOC387895,LOC400084,LOC440117,LRCOL1,LRRC43,MIR3612,MIR3908,MIR4304,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,NOC4L,OASL,OGFOD2,ORAI1,P2RX2,P2RX4,P2RX7,PGAM5,PITPNM2,PIWIL1,PLA2G1B,POLE,POP5,PSMD9,PUS1,PXMP2,PXN,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNORA49,SNRNP35,SPPL3,SRSF9,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TRIAP1,UBC,ULK1,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 120700000 133851895 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AACS,ABCB9,ACADS,ANAPC5,ANHX,ANKLE2,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC62,CCDC92,CDK2AP1,CHFR,CLIP1,COQ5,COX6A1,DDX51,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,EP400,EP400NL,FAM101A,FBRSL1,FLJ31485,FLJ37505,FZD10,GALNT9,GATC,GLT1D1,GOLGA3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,KNTC1,LINC00507,LOC100128554,LOC100130238,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC338799,LOC387895,LOC400084,LOC440117,LRCOL1,LRRC43,MIR3612,MIR3908,MIR4304,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,NOC4L,OASL,OGFOD2,ORAI1,P2RX2,P2RX4,P2RX7,PGAM5,PITPNM2,PIWIL1,PLA2G1B,POLE,POP5,PSMD9,PUS1,PXMP2,PXN,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNORA49,SNRNP35,SPPL3,SRSF9,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TRIAP1,UBC,ULK1,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 120700000 133851895 Loss Breast cancer Microarray-based CGH 17133270 AACS,ABCB9,ACADS,ANAPC5,ANHX,ANKLE2,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf43,C12orf65,CABP1,CAMKK2,CCDC62,CCDC92,CDK2AP1,CHFR,CLIP1,COQ5,COX6A1,DDX51,DDX55,DENR,DHX37,DIABLO,DNAH10,DYNLL1,EIF2B1,EP400,EP400NL,FAM101A,FBRSL1,FLJ31485,FLJ37505,FZD10,GALNT9,GATC,GLT1D1,GOLGA3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,KNTC1,LINC00507,LOC100128554,LOC100130238,LOC100190940,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC338799,LOC387895,LOC400084,LOC440117,LRCOL1,LRRC43,MIR3612,MIR3908,MIR4304,MIR4700,MIR5188,MLEC,MLXIP,MMP17,MORN3,MPHOSPH9,MSI1,NCOR2,NOC4L,OASL,OGFOD2,ORAI1,P2RX2,P2RX4,P2RX7,PGAM5,PITPNM2,PIWIL1,PLA2G1B,POLE,POP5,PSMD9,PUS1,PXMP2,PXN,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SIRT4,SLC15A4,SNORA49,SNRNP35,SPPL3,SRSF9,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TRIAP1,UBC,ULK1,UNC119B,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 120700042 120715977 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PXN chr12 120700042 120715977 Gain or loss Breast cancer - 20668451 PXN chr12 120700042 120715977 Gain or loss Cancer - 20668451 PXN chr12 120700042 120715977 Gain or loss Lung cancer - 20668451 PXN chr12 120700042 120715977 Gain or loss Ovarian cancer - 20668451 PXN chr12 120700042 120715977 Gain or loss Pancreas cancer - 20668451 PXN chr12 120700042 120715977 Gain or loss Prostate cancer - 20668451 PXN chr12 120700045 120715977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PXN chr12 120700045 120715977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PXN chr12 120705355 121217869 Gain and loss Pancreatic cancer SNP array 17952125 ACADS,CABP1,COQ5,COX6A1,DYNLL1,GATC,LOC100506668,MIR4700,MLEC,MSI1,PLA2G1B,POP5,RNF10,SIRT4,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120714391 120714443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 120717565 120720119 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 120718106 120718831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 120718106 120718831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 120720097 120733281 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 120735501 120802500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MSI1,PLA2G1B,SIRT4 chr12 120740155 120759489 Gain and loss Pancreatic cancer SNP array 17952125 SIRT4 chr12 120741760 120754944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIRT4 chr12 120741760 120754944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRT4 chr12 120742411 120774625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLA2G1B,SIRT4 chr12 120761818 120781152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSI1,PLA2G1B chr12 120761818 120781152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI1,PLA2G1B chr12 120767247 120767763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 120787570 122012128 LOH Normal High-resolution SNP genotyping 21211785 ACADS,ANAPC5,C12orf43,CABP1,CAMKK2,COQ5,COX6A1,DYNLL1,GATC,HNF1A,HNF1A-AS1,KDM2B,LOC100506668,MIR4700,MLEC,MSI1,OASL,P2RX4,P2RX7,POP5,RNF10,RNF34,SPPL3,SRSF9,TRIAP1,UNC119B chr12 120789366 120818490 Gain and loss Pancreatic cancer SNP array 17952125 MSI1 chr12 120802501 120893000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COX6A1,GATC,MSI1,TRIAP1 chr12 120808730 120808788 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 120811021 120840153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 120811021 120840153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 120819200 120904538 Gain and loss Pancreatic cancer SNP array 17952125 COX6A1,GATC,SRSF9,TRIAP1 chr12 120840863 120926201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COX6A1,DYNLL1,GATC,SRSF9,TRIAP1 chr12 120840863 120926211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COX6A1,DYNLL1,GATC,SRSF9,TRIAP1 chr12 120840863 120926211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX6A1,DYNLL1,GATC,SRSF9,TRIAP1 chr12 120861837 120861908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 120893001 120943000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COQ5,DYNLL1,GATC,LOC100506668,SRSF9 chr12 120921591 120921659 Gain and loss Pancreatic cancer SNP array 17952125 DYNLL1 chr12 120922718 120959789 Gain and loss Pancreatic cancer SNP array 17952125 COQ5,DYNLL1,LOC100506668 chr12 120944243 120984333 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 COQ5,RNF10 chr12 120944243 120984333 Gain or loss Breast cancer - 20668451 COQ5,RNF10 chr12 120944243 120984333 Gain or loss Cancer - 20668451 COQ5,RNF10 chr12 120944243 120984333 Gain or loss Lung cancer - 20668451 COQ5,RNF10 chr12 120944243 120984333 Gain or loss Ovarian cancer - 20668451 COQ5,RNF10 chr12 120944243 120984333 Gain or loss Pancreas cancer - 20668451 COQ5,RNF10 chr12 120944243 120984333 Gain or loss Prostate cancer - 20668451 COQ5,RNF10 chr12 120944244 120984333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COQ5,RNF10 chr12 120944244 120984333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COQ5,RNF10 chr12 120954501 121173500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACADS,CABP1,COQ5,MIR4700,MLEC,POP5,RNF10,UNC119B chr12 120984307 122032040 LOH Normal High-resolution SNP genotyping 21211785 ACADS,ANAPC5,C12orf43,CABP1,CAMKK2,HNF1A,HNF1A-AS1,KDM2B,MIR4700,MLEC,OASL,P2RX4,P2RX7,POP5,RNF10,RNF34,SPPL3,UNC119B chr1 212100000 222100000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,C1orf115,C1orf140,C1orf227,CENPF,DTL,DUSP10,EPRS,ESRRG,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HLX,IARS2,INTS7,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR3122,MIR664,NENF,NSL1,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,TATDN3,TGFB2,TMEM206,USH2A,VASH2 chr1 212100000 222100000 Copy number Normal - 20680643 ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,C1orf115,C1orf140,C1orf227,CENPF,DTL,DUSP10,EPRS,ESRRG,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HLX,IARS2,INTS7,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR3122,MIR664,NENF,NSL1,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,TATDN3,TGFB2,TMEM206,USH2A,VASH2 chr1 212100000 222100000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,C1orf115,C1orf140,C1orf227,CENPF,DTL,DUSP10,EPRS,ESRRG,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HLX,IARS2,INTS7,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR3122,MIR664,NENF,NSL1,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,TATDN3,TGFB2,TMEM206,USH2A,VASH2 chr1 212100000 222100000 Deletion Holoprosencephaly PCR amplification, 19184110 ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,C1orf115,C1orf140,C1orf227,CENPF,DTL,DUSP10,EPRS,ESRRG,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HLX,IARS2,INTS7,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR3122,MIR664,NENF,NSL1,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,TATDN3,TGFB2,TMEM206,USH2A,VASH2 chr1 212100000 222100000 Gain Breast cancer 244K CGH microarray 21069454 ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,C1orf115,C1orf140,C1orf227,CENPF,DTL,DUSP10,EPRS,ESRRG,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HLX,IARS2,INTS7,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR3122,MIR664,NENF,NSL1,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,TATDN3,TGFB2,TMEM206,USH2A,VASH2 chr1 212100000 222100000 Loss Malignant fibrous histiocytomas aCGH 21085701 ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,C1orf115,C1orf140,C1orf227,CENPF,DTL,DUSP10,EPRS,ESRRG,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HLX,IARS2,INTS7,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR3122,MIR664,NENF,NSL1,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,TATDN3,TGFB2,TMEM206,USH2A,VASH2 chr1 212100000 225100000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 AIDA,ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,BROX,C1orf115,C1orf140,C1orf227,C1orf65,CAPN2,CAPN8,CENPF,CNIH3,CNIH4,DEGS1,DISP1,DTL,DUSP10,EPRS,ESRRG,FAM177B,FAM71A,FBXO28,FLVCR1,FLVCR1-AS1,GPATCH2,HHIPL2,HLX,IARS2,INTS7,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR3122,MIR320B2,MIR4742,MIR664,NENF,NSL1,NVL,PPP2R5A,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA16B,SNORA36B,SPATA17,SUSD4,TAF1A,TATDN3,TGFB2,TLR5,TMEM206,TP53BP2,USH2A,VASH2,WDR26 chr1 212100000 234600000 Deletion Mental retardation References 19951919 ABCB10,ACBD3,ACTA1,ADCK3,AGT,AIDA,ANGEL2,ARF1,ARV1,ATF3,AURKAPS1,BATF3,BPNT1,BROX,C1orf115,C1orf131,C1orf140,C1orf145,C1orf198,C1orf227,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CENPF,CNIH3,CNIH4,COG2,DEGS1,DISC1,DISC2,DISP1,DNAH14,DTL,DUSP10,DUSP5P,EGLN1,ENAH,EPHX1,EPRS,ESRRG,EXOC8,FAM177B,FAM71A,FAM89A,FBXO28,FLVCR1,FLVCR1-AS1,GALNT2,GJC2,GNPAT,GPATCH2,GUK1,H3F3A,H3F3AP4,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,IARS2,IBA57,INTS7,ITPKB,JMJD4,KCNK1,KCNK2,KCTD3,KIAA1383,KIAA1804,LBR,LEFTY1,LEFTY2,LIN9,LINC00210,LINC00538,LINC00582,LOC100130093,LOC149373,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR1182,MIR194-1,MIR215,MIR3122,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4742,MIR5008,MIR664,MIXL1,MRPL55,NENF,NSL1,NTPCR,NUP133,NVL,OBSCN,PARP1,PCNXL2,PGBD5,PPP2R5A,PROX1,PRSS38,PSEN2,PTPN14,PYCR2,RAB3GAP2,RAB4A,RHOU,RNF187,RNU5F-1,RPS6KC1,RRP15,SDE2,SIPA1L2,SLC30A10,SLC35F3,SMYD2,SNAP47,SNORA16B,SNORA36B,SNRPD2P2,SPATA17,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TATDN3,TGFB2,TLR5,TMEM206,TMEM63A,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,USH2A,VASH2,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr1 212100000 234600000 Microdeletion Non-syndromic sensorineural hearing loss Array-CGH 17873649 ABCB10,ACBD3,ACTA1,ADCK3,AGT,AIDA,ANGEL2,ARF1,ARV1,ATF3,AURKAPS1,BATF3,BPNT1,BROX,C1orf115,C1orf131,C1orf140,C1orf145,C1orf198,C1orf227,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CENPF,CNIH3,CNIH4,COG2,DEGS1,DISC1,DISC2,DISP1,DNAH14,DTL,DUSP10,DUSP5P,EGLN1,ENAH,EPHX1,EPRS,ESRRG,EXOC8,FAM177B,FAM71A,FAM89A,FBXO28,FLVCR1,FLVCR1-AS1,GALNT2,GJC2,GNPAT,GPATCH2,GUK1,H3F3A,H3F3AP4,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,IARS2,IBA57,INTS7,ITPKB,JMJD4,KCNK1,KCNK2,KCTD3,KIAA1383,KIAA1804,LBR,LEFTY1,LEFTY2,LIN9,LINC00210,LINC00538,LINC00582,LOC100130093,LOC149373,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR1182,MIR194-1,MIR215,MIR3122,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4742,MIR5008,MIR664,MIXL1,MRPL55,NENF,NSL1,NTPCR,NUP133,NVL,OBSCN,PARP1,PCNXL2,PGBD5,PPP2R5A,PROX1,PRSS38,PSEN2,PTPN14,PYCR2,RAB3GAP2,RAB4A,RHOU,RNF187,RNU5F-1,RPS6KC1,RRP15,SDE2,SIPA1L2,SLC30A10,SLC35F3,SMYD2,SNAP47,SNORA16B,SNORA36B,SNRPD2P2,SPATA17,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TATDN3,TGFB2,TLR5,TMEM206,TMEM63A,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,USH2A,VASH2,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr12 121001035 121194916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACADS,CABP1,MIR4700,MLEC,POP5,RNF10,UNC119B chr12 121001035 121194916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACADS,CABP1,MIR4700,MLEC,POP5,RNF10,UNC119B chr1 212101816 212123990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INTS7 chr1 212102680 212106954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 12102812 12102901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 121098653 121098743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CABP1 chr12 121132709 121132771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLEC chr12 121136673 121153843 Gain and loss Pancreatic cancer SNP array 17952125 MLEC,UNC119B chr12 12115145 12255214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L14 chr12 12115145 12255214 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L14 chr12 12115145 12255214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L14 chr12 12115787 12115887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 121193944 121212897 Gain and loss Pancreatic cancer SNP array 17952125 SPPL3 chr12 121197001 121232500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPPL3 chr12 121197297 121747149 LOH Normal High-resolution SNP genotyping 21211785 ANAPC5,C12orf43,CAMKK2,HNF1A,HNF1A-AS1,OASL,P2RX4,P2RX7,SPPL3 chr12 121212171 121216964 Gain and loss Pancreatic cancer SNP array 17952125 SPPL3 chr12 121214045 122826354 LOH Normal High-resolution SNP genotyping 21211785 ANAPC5,B3GNT4,BCL7A,C12orf43,CAMKK2,CLIP1,DIABLO,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,LOC338799,LRRC43,MLXIP,MORN3,OASL,ORAI1,P2RX4,P2RX7,PSMD9,RHOF,RNF34,SETD1B,SPPL3,TMEM120B,VPS33A,WDR66 chr12 121217090 121236900 Gain and loss Pancreatic cancer SNP array 17952125 SPPL3 chr12 121222530 121224699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121222530 121224699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121235017 121253970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121235017 121253970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121240976 121275897 Gain and loss Pancreatic cancer SNP array 17952125 SPPL3 chr12 121241001 121253500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPPL3 chr12 121254043 121258037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121254043 121258037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121254180 121258037 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SPPL3 chr12 121258001 121276000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPPL3 chr12 121258161 121276552 Gain or loss Breast cancer - 20668451 SPPL3 chr12 121258161 121276552 Gain or loss Cancer - 20668451 SPPL3 chr12 121258161 121276552 Gain or loss Lung cancer - 20668451 SPPL3 chr12 121258161 121276552 Gain or loss Ovarian cancer - 20668451 SPPL3 chr12 121258161 121276552 Gain or loss Pancreas cancer - 20668451 SPPL3 chr12 121258161 121276552 Gain or loss Prostate cancer - 20668451 SPPL3 chr12 121258163 121276552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121258163 121276552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121260000 122760000 Gain Breast cancer aCGH 21509527 ANAPC5,B3GNT4,BCL7A,C12orf43,CAMKK2,CLIP1,DIABLO,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,LOC338799,LRRC43,MLXIP,MORN3,OASL,ORAI1,P2RX4,P2RX7,PSMD9,RHOF,RNF34,SETD1B,SPPL3,TMEM120B,VPS33A,WDR66 chr12 121271665 121271765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPPL3 chr12 121278001 121470500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf43,HNF1A,HNF1A-AS1,OASL,SPPL3 chr12 121280000 122730000 Loss Acute lymphoblastic leukemia - 21339820 ANAPC5,B3GNT4,BCL7A,C12orf43,CAMKK2,DIABLO,HNF1A,HNF1A-AS1,HPD,IL31,KDM2B,LOC338799,LRRC43,MLXIP,MORN3,OASL,ORAI1,P2RX4,P2RX7,PSMD9,RHOF,RNF34,SETD1B,SPPL3,TMEM120B,VPS33A,WDR66 chr12 121280861 121404871 Gain and loss Pancreatic cancer SNP array 17952125 SPPL3 chr12 121282049 121317021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121282049 121317021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPPL3 chr12 121283300 121283359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPPL3 chr1 212129130 212183542 Gain and loss Pancreatic cancer SNP array 17952125 INTS7 chr12 1 21300000 Gain Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ART4,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PZP,RAD51AP1,RAD52,RBP5,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SPSB2,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 121321934 121473069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf43,HNF1A,HNF1A-AS1,OASL,SPPL3 chr12 121321934 121473069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf43,HNF1A,HNF1A-AS1,OASL,SPPL3 chr12 121324782 121434397 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HNF1A,HNF1A-AS1,SPPL3 chr12 121329476 121369444 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SPPL3 chr12 121330861 121368594 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SPPL3 chr12 121360298 121414248 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HNF1A-AS1 chr12 121364103 121364191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 121412843 121587474 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 C12orf43,HNF1A,OASL,P2RX7 chr12 12142101 12147600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 12144095 12145912 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 121446657 121547275 Copy number Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 C12orf43,OASL chr12 121470501 121519500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OASL chr12 121482317 121510398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 121514153 121536427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 121519501 121675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMKK2,P2RX4,P2RX7 chr12 121523390 121551471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 121523390 121551471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 121536689 121634139 Gain and loss Pancreatic cancer SNP array 17952125 P2RX7 chr12 12154606 12154938 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 12155364 12155689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 12155364 12155689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 12155364 12155689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 121555226 121577499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P2RX7 chr12 121555226 121577499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RX7 chr12 121576292 121576620 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 P2RX7 chr12 121577762 121675251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P2RX4,P2RX7 chr12 121577762 121675251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RX4,P2RX7 chr12 12160227 12311078 Gain or loss Breast cancer - 20668451 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr12 12160227 12311078 Gain or loss Cancer - 20668451 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr12 12160227 12311078 Gain or loss Lung cancer - 20668451 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr12 12160227 12311078 Gain or loss Ovarian cancer - 20668451 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr12 12160227 12311078 Gain or loss Pancreas cancer - 20668451 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr12 12160227 12311078 Gain or loss Prostate cancer - 20668451 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr12 12160230 12311078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr12 12160230 12311078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr1 212164578 212164728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INTS7 chr12 12164958 12311013 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L14,LRP6,MIR1244-1,MIR1244-2,MIR1244-3 chr12 12166735 12166810 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 12166735 12166810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 121670777 121781343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC5,CAMKK2,P2RX4 chr12 121675501 121890500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANAPC5,CAMKK2,KDM2B,RNF34 chr12 121700227 121722629 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CAMKK2 chr12 121711619 121712710 Gain and loss Pancreatic cancer SNP array 17952125 CAMKK2 chr12 121714912 121741729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAMKK2 chr12 121725193 121726068 Gain and loss Pancreatic cancer SNP array 17952125 CAMKK2 chr12 121735611 121740009 Gain and loss Pancreatic cancer SNP array 17952125 CAMKK2 chr12 1217506 1217606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC1 chr12 121752692 121753783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANAPC5 chr12 121752692 121753783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC5 chr12 121753045 122809085 LOH Normal High-resolution SNP genotyping 21211785 ANAPC5,B3GNT4,BCL7A,CLIP1,DIABLO,HPD,IL31,KDM2B,LOC338799,LRRC43,MLXIP,MORN3,ORAI1,PSMD9,RHOF,RNF34,SETD1B,TMEM120B,VPS33A,WDR66 chr12 121753045 122826354 LOH Normal High-resolution SNP genotyping 21211785 ANAPC5,B3GNT4,BCL7A,CLIP1,DIABLO,HPD,IL31,KDM2B,LOC338799,LRRC43,MLXIP,MORN3,ORAI1,PSMD9,RHOF,RNF34,SETD1B,TMEM120B,VPS33A,WDR66 chr12 121763129 121778983 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC5 chr12 121770251 123123369 LOH Normal High-resolution SNP genotyping 21211785 ANAPC5,B3GNT4,BCL7A,CLIP1,DIABLO,HPD,IL31,KDM2B,KNTC1,LOC100507066,LOC338799,LRRC43,MLXIP,MORN3,ORAI1,PSMD9,RHOF,RNF34,RSRC2,SETD1B,TMEM120B,VPS33A,WDR66,ZCCHC8 chr12 121777526 121777625 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC5 chr12 121783953 121836811 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC5 chr12 121788588 122538925 LOH Normal High-resolution SNP genotyping 21211785 ANAPC5,BCL7A,HPD,KDM2B,LOC338799,MLXIP,MORN3,ORAI1,PSMD9,RHOF,RNF34,SETD1B,TMEM120B,WDR66 chr12 121804202 121821906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 121804202 121821906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 121818599 121818700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 121825026 121877884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2B,RNF34 chr12 121825026 121877884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2B,RNF34 chr12 121844978 121872387 Gain and loss Pancreatic cancer SNP array 17952125 KDM2B,RNF34 chr1 212184631 212985133 Gain and loss Pancreatic cancer SNP array 17952125 ATF3,BATF3,DTL,FAM71A,INTS7,MIR3122,NENF,NSL1,PPP2R5A,SNORA16B,TATDN3,TMEM206 chr12 121874762 121905592 Gain and loss Pancreatic cancer SNP array 17952125 KDM2B chr12 121885992 121913460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2B chr12 121885992 121913460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2B chr12 121899177 121899272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM2B chr12 121903736 121904045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KDM2B chr12 121915835 121946665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2B chr12 121915835 121946665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2B chr1 212191763 212191854 Gain and loss Pancreatic cancer SNP array 17952125 INTS7 chr1 212191791 212191853 Gain and loss Pancreatic cancer SNP array 17952125 INTS7 chr12 121919501 121932000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM2B chr12 121932001 121942000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM2B chr12 121938421 121984632 Gain and loss Pancreatic cancer SNP array 17952125 KDM2B chr12 121942001 121978500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM2B chr12 121978501 122024500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM2B chr12 121979494 122025705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM2B chr12 121979494 122025705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM2B chr12 121979494 122025705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM2B chr12 121984222 121989470 Gain and loss Pancreatic cancer SNP array 17952125 KDM2B chr12 121986789 122018125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM2B chr12 121989760 121992336 Gain and loss Pancreatic cancer SNP array 17952125 KDM2B chr12 121992908 122160165 Gain and loss Pancreatic cancer SNP array 17952125 KDM2B,MORN3,ORAI1,TMEM120B chr12 12200000 13130000 Loss Acute lymphoblastic leukemia - 21339820 APOLD1,BCL2L14,CDKN1B,CREBL2,DDX47,DUSP16,GPR19,GPRC5A,GPRC5D,HEBP1,LOH12CR1,LOH12CR2,LRP6,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,RPL13AP20 chr12 122025242 122030541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 122025242 122030541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 122025307 122030541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 122030560 122033413 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 122030833 122033413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 122030833 122033413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 122033980 122160928 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MORN3,ORAI1,TMEM120B chr12 122033980 122160928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MORN3,ORAI1,TMEM120B chr12 122033980 122160928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MORN3,ORAI1,TMEM120B chr12 122047201 122199000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MORN3,ORAI1,TMEM120B chr12 122070038 122070138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ORAI1 chr12 122095001 122106500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MORN3 chr1 212210381 212210481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTL chr12 12210393 122762818 Copy number Autism exome sequencing 22495311 AAAS,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AEBP2,AGAP2,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf60,C12orf61,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC63,CCDC64,CCDC65,CCDC91,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX23,DDX47,DDX54,DENND5B,DENND5B-AS1,DEPDC4,DERA,DGKA,DHH,DIABLO,DIP2B,DNAJC14,DNAJC22,DNM1L,DPY19L2,DRAM1,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF4B,ELK3,EMP1,ENDOU,EPS8,EPYC,ERBB3,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,FAIM2,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM71C,FAR2,FBXO21,FBXW8,FGD4,FGD6,FGFR1OP2,FICD,FIGNL2,FKBP11,FLJ12825,FLJ13224,FLJ41278,FMNL3,FOXN4,FRS2,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IPO8,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LDHB,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00592,LINC00615,LLPH,LMBR1L,LMO3,LOC100130776,LOC100131138,LOC100240734,LOC100240735,LOC100287314,LOC100287944,LOC100335030,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507250,LOC100507377,LOC100652999,LOC101055625,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC400027,LOC400043,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYRM5,LYZ,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3652,MIR3685,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP19,MON2,MORN3,MRPL42,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIK3C2G,PIP4K2C,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTHLH,PTPN11,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL41,RPL6,RPLP0,RPS26,RPSAP52,SARNP,SART3,SCAF11,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VSIG10,WBP11,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF740 chr12 122106501 122113500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MORN3 chr12 122122001 122162500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM120B chr12 122152901 122242538 Gain and loss Pancreatic cancer SNP array 17952125 LOC338799,RHOF,TMEM120B chr12 122162501 122200500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM120B chr12 122203001 122283000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPD,LOC338799,RHOF,SETD1B,TMEM120B chr12 122203033 122272394 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC338799,RHOF,SETD1B,TMEM120B chr12 122203033 122272394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC338799,RHOF,SETD1B,TMEM120B chr12 122203033 122272394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC338799,RHOF,SETD1B,TMEM120B chr12 122218562 132289534 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AACS,ABCB9,ARL6IP4,ATP6V0A2,B3GNT4,BCL7A,BRI3BP,C12orf65,CCDC62,CCDC92,CDK2AP1,CLIP1,DDX55,DENR,DHX37,DIABLO,DNAH10,EIF2B1,FAM101A,FLJ31485,FLJ37505,FZD10,GLT1D1,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HIP1R,HPD,IL31,KNTC1,LINC00507,LOC100128554,LOC100190940,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC338799,LOC387895,LOC400084,LOC440117,LRRC43,MIR3612,MIR3908,MIR4304,MIR5188,MLXIP,MPHOSPH9,NCOR2,OGFOD2,PITPNM2,PIWIL1,PSMD9,RAN,RHOF,RILPL1,RILPL2,RIMBP2,RSRC2,SBNO1,SCARB1,SETD1B,SETD8,SFSWAP,SLC15A4,SNRNP35,STX2,TCTN2,TMED2,TMEM120B,TMEM132B,TMEM132C,TMEM132D,UBC,VPS33A,VPS37B,WDR66,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 122242343 122267386 Gain and loss Pancreatic cancer SNP array 17952125 SETD1B chr12 122245091 122245191 Gain and loss Pancreatic cancer SNP array 17952125 SETD1B chr12 122245100 122245192 Gain and loss Pancreatic cancer SNP array 17952125 SETD1B chr12 122245130 122245230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SETD1B chr12 122268154 122268203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SETD1B chr12 122270422 122281567 Gain and loss Pancreatic cancer SNP array 17952125 HPD,SETD1B chr12 122283001 122284500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPD chr12 122283416 122308459 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HPD chr12 122283416 122308459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPD chr12 122283416 122308459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPD chr12 122284501 122299500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPD chr1 212228483 212281219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTL,MIR3122 chr1 212228483 212281219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTL,MIR3122 chr12 122292343 122292460 Gain and loss Pancreatic cancer SNP array 17952125 HPD chr12 122292343 122292461 Gain and loss Pancreatic cancer SNP array 17952125 HPD chr12 122302001 122315500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPD chr12 122305335 122359868 Gain and loss Pancreatic cancer SNP array 17952125 HPD,PSMD9,WDR66 chr12 122311492 122322640 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 HPD chr12 122311495 122322640 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HPD chr12 122311495 122322640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPD chr12 122322590 122322719 Gain Autism 1M Ailent CGH whole-genome array 21865298 HPD chr12 122322590 122322719 Loss Autism 1M Ailent CGH whole-genome array 21865298 HPD chr12 122323001 122339000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPD,PSMD9 chr12 122333416 122333534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD9 chr12 122339001 122407500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PSMD9,WDR66 chr12 122346408 122400941 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSMD9,WDR66 chr12 122346408 122400941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMD9,WDR66 chr12 122346408 122400941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD9,WDR66 chr12 122358428 122358527 Gain and loss Pancreatic cancer SNP array 17952125 WDR66 chr12 122370457 122370607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR66 chr12 122393200 122418778 Gain and loss Pancreatic cancer SNP array 17952125 WDR66 chr12 122399499 122399600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR66 chr12 122400031 122400093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDR66 chr12 122406526 122552874 Gain Normal Birdsuite, version 1.5.2 22087296 BCL7A,MLXIP,WDR66 chr12 122407501 122560500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL7A,MLXIP,WDR66 chr12 122412532 122412909 Gain and loss Pancreatic cancer SNP array 17952125 WDR66 chr12 122424468 122445923 Gain and loss Pancreatic cancer SNP array 17952125 WDR66 chr12 122434273 122459851 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WDR66 chr12 122434273 122459858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR66 chr12 122434273 122459858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR66 chr12 122453605 122453982 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 1224606 2600712 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADIPOR2,CACNA1C,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,DCP1B,ERC1,FBXL14,LOC100271702,LOC100292680,LRTM2,MIR3649,WNT5B chr12 1224606 2815157 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADIPOR2,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,DCP1B,ERC1,FBXL14,LOC100271702,LOC100292680,LRTM2,MIR3649,WNT5B chr12 122465541 122486996 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCL7A chr12 122465888 122487217 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 BCL7A chr12 122465889 122487217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL7A chr12 122465889 122487217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL7A chr12 122467071 122475816 Gain and loss Pancreatic cancer SNP array 17952125 BCL7A chr12 122477621 122477779 Gain and loss Pancreatic cancer SNP array 17952125 BCL7A chr12 122480519 122480683 Gain and loss Pancreatic cancer SNP array 17952125 BCL7A chr12 122481243 122543380 Gain and loss Pancreatic cancer SNP array 17952125 BCL7A,MLXIP chr1 212248859 212250274 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 DTL chr12 122508604 122516894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLXIP chr12 122508604 122516894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLXIP chr12 122508604 122516894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLXIP chr12 122522316 122584457 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MLXIP chr12 122522316 122584457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLXIP chr12 122522316 122584457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLXIP chr12 122560501 122564000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MLXIP chr12 122564001 122635500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MLXIP chr12 122594041 122607561 Gain and loss Pancreatic cancer SNP array 17952125 MLXIP chr12 122611552 122630360 Gain and loss Pancreatic cancer SNP array 17952125 MLXIP chr12 122626135 122626267 Gain and loss Pancreatic cancer SNP array 17952125 MLXIP chr12 122631183 122642984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 122635029 122648634 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 122635029 122648634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 122635029 122648634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 122635501 122940000 Copy number Normal ReadDepth: A Parallel R Package 21305028 B3GNT4,CLIP1,DIABLO,IL31,LOC100507066,LRRC43,VPS33A chr12 122643260 122670500 Gain and loss Pancreatic cancer SNP array 17952125 IL31,LRRC43 chr12 122652625 122671433 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IL31,LRRC43 chr12 122652625 122671433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL31,LRRC43 chr12 122652625 122671433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL31,LRRC43 chr12 122653632 122653705 Gain and loss Pancreatic cancer SNP array 17952125 LRRC43 chr12 122667208 122667340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC43 chr12 122671523 122684200 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRRC43 chr12 122671523 122684200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC43 chr12 122671523 122684200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC43 chr12 122680542 122717822 Gain and loss Pancreatic cancer SNP array 17952125 B3GNT4,DIABLO,LRRC43,VPS33A chr12 122681597 122761809 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 B3GNT4,CLIP1,DIABLO,LRRC43,VPS33A chr12 122684333 122711287 Gain or loss Breast cancer - 20668451 B3GNT4,DIABLO,LRRC43 chr12 122684333 122711287 Gain or loss Cancer - 20668451 B3GNT4,DIABLO,LRRC43 chr12 122684333 122711287 Gain or loss Lung cancer - 20668451 B3GNT4,DIABLO,LRRC43 chr12 122684333 122711287 Gain or loss Ovarian cancer - 20668451 B3GNT4,DIABLO,LRRC43 chr12 122684333 122711287 Gain or loss Pancreas cancer - 20668451 B3GNT4,DIABLO,LRRC43 chr12 122684333 122711287 Gain or loss Prostate cancer - 20668451 B3GNT4,DIABLO,LRRC43 chr12 122684360 122712140 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B3GNT4,DIABLO,LRRC43 chr12 122684360 122712140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GNT4,DIABLO,LRRC43 chr12 122684360 122712140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GNT4,DIABLO,LRRC43 chr12 122689613 122689848 Gain Autism 1M Ailent CGH whole-genome array 21865298 B3GNT4 chr12 122694705 122694778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIABLO chr12 12270875 12270977 Gain and loss Pancreatic cancer SNP array 17952125 LRP6 chr12 12270875 12270978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP6 chr12 12270877 12270978 Gain and loss Pancreatic cancer SNP array 17952125 LRP6 chr1 212271000 212271075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTL chr12 122721615 122758901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLIP1,VPS33A chr12 122721615 122758901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLIP1,VPS33A chr12 122721745 122769321 Gain and loss Pancreatic cancer SNP array 17952125 CLIP1,VPS33A chr12 122762818 122810394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLIP1 chr12 122762818 122810394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLIP1 chr12 122782064 122782117 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 CLIP1 chr12 122790531 122823684 Gain and loss Pancreatic cancer SNP array 17952125 CLIP1 chr12 122802186 122802231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLIP1 chr12 122803585 122803664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLIP1 chr12 122812995 122986218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLIP1,LOC100507066,ZCCHC8 chr12 122812995 122986218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLIP1,LOC100507066,ZCCHC8 chr12 122844866 122891664 Gain and loss Pancreatic cancer SNP array 17952125 CLIP1,LOC100507066 chr12 122902792 122945140 Gain and loss Pancreatic cancer SNP array 17952125 CLIP1 chr12 122910368 122910457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 122910437 122944679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 122940001 123001500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RSRC2,ZCCHC8 chr12 122945835 122982043 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC8 chr12 122977701 122985484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC8 chr12 122977701 122985484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC8 chr12 122982660 123024853 Gain and loss Pancreatic cancer SNP array 17952125 KNTC1,RSRC2,ZCCHC8 chr12 122986936 123023317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KNTC1,RSRC2 chr12 122986936 123023317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNTC1,RSRC2 chr12 123001501 123328250 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC62,DENR,HCAR1,HCAR2,HCAR3,HIP1R,KNTC1,RSRC2 chr12 123023623 123065918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KNTC1 chr12 123023623 123065918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KNTC1 chr12 123024518 123061877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KNTC1 chr12 123061940 123062043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KNTC1 chr12 123061998 123062937 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KNTC1 chr12 123063328 123065951 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KNTC1 chr12 12306964 12330329 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LRP6 chr12 12307001 13088000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOLD1,CDKN1B,CREBL2,DDX47,DUSP16,GPR19,GPRC5A,LOH12CR1,LOH12CR2,LRP6,MANSC1,MIR613,MIR614,RPL13AP20 chr12 12310059 12310159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP6 chr12 12321303 17155604 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 APOLD1,ARHGDIB,ART4,ATF7IP,C12orf36,C12orf60,C12orf69,CDKN1B,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,LMO3,LOC100506314,LOH12CR1,LOH12CR2,LRP6,MANSC1,MGP,MGST1,MIR613,MIR614,PDE6H,PLBD1,PTPRO,RERG,RPL13AP20,SKP1P2,SLC15A5,STRAP,WBP11 chr12 123274955 123275071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC62 chr12 123281172 123584807 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ABCB9,ARL6IP4,CCDC62,HIP1R,LOC100507091,MIR4304,OGFOD2,PITPNM2,VPS37B chr12 123286467 123286557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC62 chr12 123291401 123292651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC62 chr12 123298590 123324167 Gain and loss Pancreatic cancer SNP array 17952125 CCDC62,HIP1R chr12 123328251 123331000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIP1R chr12 123331001 123333000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIP1R chr12 123333001 123338000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIP1R chr12 123333842 123504677 Gain and loss Pancreatic cancer SNP array 17952125 ABCB9,ARL6IP4,HIP1R,MIR4304,OGFOD2,PITPNM2,VPS37B chr12 12333428 12333530 Gain and loss Pancreatic cancer SNP array 17952125 LRP6 chr12 12333428 12333530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP6 chr12 123338001 123345000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIP1R chr12 123339663 123366521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIP1R,VPS37B chr12 123339663 123366521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIP1R,VPS37B chr12 123346466 123353661 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HIP1R,VPS37B chr12 123361770 123361889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VPS37B chr12 123374914 123586102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCB9,ARL6IP4,LOC100507091,MIR4304,OGFOD2,PITPNM2,VPS37B chr12 123374914 123586102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCB9,ARL6IP4,LOC100507091,MIR4304,OGFOD2,PITPNM2,VPS37B chr12 123390099 123390230 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 123409908 123411988 Gain and loss Pancreatic cancer SNP array 17952125 ABCB9 chr12 123413366 123413366 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ABCB9 chr12 123489001 123499500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4304,PITPNM2 chr12 123510173 123706639 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC100507091,MPHOSPH9,PITPNM2 chr12 1235646 1236952 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ERC1 chr12 1235838 1236630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERC1 chr12 123620041 124585462 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATP6V0A2,C12orf65,CCDC92,CDK2AP1,DDX55,DNAH10,EIF2B1,GTF2H3,MIR3908,MPHOSPH9,RILPL1,RILPL2,SBNO1,SETD8,SNRNP35,TCTN2,TMED2,ZNF664,ZNF664-FAM101A chr12 123620501 123938500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf65,CDK2AP1,MPHOSPH9,RILPL2,SBNO1,SETD8 chr12 12373466 12394453 Gain and loss Pancreatic cancer SNP array 17952125 LRP6 chr12 12373484 12394436 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LRP6 chr12 12373484 12394436 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 LRP6 chr12 12373485 12394436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP6 chr12 12373485 12394436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP6 chr12 123744789 123744848 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr12 123748283 123748383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDK2AP1 chr12 123787056 123873214 Gain and loss Pancreatic cancer SNP array 17952125 SBNO1,SETD8 chr12 123787861 123787957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SBNO1 chr12 123801011 123801071 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SBNO1 chr12 123828139 123914346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RILPL2,SBNO1,SETD8 chr12 123828139 123914346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RILPL2,SBNO1,SETD8 chr12 123900351 123900660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RILPL2 chr12 123910938 123911002 Gain and loss Pancreatic cancer SNP array 17952125 RILPL2 chr12 123921074 123924077 Gain and loss Pancreatic cancer SNP array 17952125 RILPL2 chr12 123938501 123997000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RILPL1,SNRNP35 chr12 123944906 123945291 Gain and loss Pancreatic cancer SNP array 17952125 SNRNP35 chr12 123952011 123952075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 123956253 123998547 Gain and loss Pancreatic cancer SNP array 17952125 RILPL1 chr12 123962147 123965530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RILPL1 chr12 123962147 123965530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RILPL1 chr12 123989096 124008973 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RILPL1 chr12 12399610 12401268 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LRP6 chr12 123997326 124039620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3908,RILPL1 chr12 123997326 124039620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3908,RILPL1 chr12 12399834 12401268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP6 chr12 123999286 123999367 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RILPL1 chr12 124003097 124035925 Gain and loss Pancreatic cancer SNP array 17952125 MIR3908,RILPL1 chr12 12401322 12511105 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOH12CR1,LOH12CR2,LRP6,MANSC1 chr12 12401322 12511105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOH12CR1,LOH12CR2,LRP6,MANSC1 chr12 12401322 12511105 Gain and loss Pancreatic cancer SNP array 17952125 LOH12CR1,LOH12CR2,LRP6,MANSC1 chr12 12401322 12511105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOH12CR1,LOH12CR2,LRP6,MANSC1 chr12 124023501 124142500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX55,EIF2B1,GTF2H3,TMED2 chr12 124044147 124076302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMED2 chr12 124044147 124076302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMED2 chr12 124044147 124076998 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMED2 chr1 212405807 212412755 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 124074805 124152741 Gain and loss Pancreatic cancer SNP array 17952125 DDX55,EIF2B1,GTF2H3,TMED2 chr12 124115878 124193824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2B1,GTF2H3,TCTN2 chr12 124115878 124193824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2B1,GTF2H3,TCTN2 chr12 124142501 124144500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GTF2H3 chr12 124144501 124233500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V0A2,GTF2H3,TCTN2 chr12 124230687 124230719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP6V0A2 chr12 124240501 124263000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V0A2,DNAH10 chr12 12424251 12433136 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr12 124263001 124738000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC92,DNAH10,ZNF664,ZNF664-FAM101A chr12 12427486 12428763 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 12428764 12433138 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 124292391 124292491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH10 chr12 124307168 124307256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH10 chr12 124307269 124332838 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAH10 chr12 124319027 124716622 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC92,DNAH10,ZNF664,ZNF664-FAM101A chr12 124319027 125687311 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AACS,BRI3BP,CCDC92,DHX37,DNAH10,FAM101A,MIR5188,NCOR2,SCARB1,UBC,ZNF664,ZNF664-FAM101A chr12 124323512 124331599 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAH10 chr12 124359131 124597798 Gain and loss Pancreatic cancer SNP array 17952125 CCDC92,DNAH10,ZNF664,ZNF664-FAM101A chr12 124362612 124397906 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAH10 chr12 124377115 124709542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC92,DNAH10,ZNF664,ZNF664-FAM101A chr12 124387295 124387361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH10 chr12 124394681 124394781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH10 chr12 124414215 124414315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH10 chr12 124500000 128700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AACS,BRI3BP,DHX37,FAM101A,FLJ37505,LINC00507,LOC100128554,LOC100507206,LOC387895,LOC400084,LOC440117,MIR5188,NCOR2,SCARB1,TMEM132B,UBC,ZNF664-FAM101A chr12 124500000 128700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AACS,BRI3BP,DHX37,FAM101A,FLJ37505,LINC00507,LOC100128554,LOC100507206,LOC387895,LOC400084,LOC440117,MIR5188,NCOR2,SCARB1,TMEM132B,UBC,ZNF664-FAM101A chr12 124500000 128700000 Translocation Developmental delay FISH 19490664 AACS,BRI3BP,DHX37,FAM101A,FLJ37505,LINC00507,LOC100128554,LOC100507206,LOC387895,LOC400084,LOC440117,MIR5188,NCOR2,SCARB1,TMEM132B,UBC,ZNF664-FAM101A chr12 124518448 124518773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF664-FAM101A chr12 124557762 124557862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF664-FAM101A chr12 124562362 129332501 Loss Prostate cancer Array CGH 18632612 AACS,BRI3BP,DHX37,FAM101A,FLJ37505,LINC00507,LOC100128554,LOC100507206,LOC387895,LOC400084,LOC440117,MIR3612,MIR5188,NCOR2,SCARB1,SLC15A4,TMEM132B,TMEM132C,UBC,ZNF664-FAM101A chr12 124562362 132310722 Loss Prostate cancer Array CGH 18632612 AACS,BRI3BP,DHX37,FAM101A,FLJ31485,FLJ37505,FZD10,GLT1D1,GPR133,LINC00507,LOC100128554,LOC100190940,LOC100507206,LOC116437,LOC387895,LOC400084,LOC440117,MIR3612,MIR5188,NCOR2,PIWIL1,RAN,RIMBP2,SCARB1,SFSWAP,SLC15A4,STX2,TMEM132B,TMEM132C,TMEM132D,UBC,ZNF664-FAM101A chr1 212458512 212458612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 124585150 124585205 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF664-FAM101A chr12 124585150 124585205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF664-FAM101A chr12 124631922 124664243 Gain and loss Pancreatic cancer SNP array 17952125 ZNF664-FAM101A chr12 124642595 124676729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF664-FAM101A chr12 124650000 124960000 Gain Breast cancer aCGH 21509527 FAM101A,NCOR2,ZNF664-FAM101A chr12 124661417 124661517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF664-FAM101A chr12 124664306 124664366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF664-FAM101A chr12 124693226 124693296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF664-FAM101A chr12 124702475 124735818 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF664-FAM101A chr12 124728483 124729437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF664-FAM101A chr12 124738001 124739500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF664-FAM101A chr12 124739501 124809500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM101A,NCOR2,ZNF664-FAM101A chr12 124742456 124749993 Gain Normal 244K array 17666407 ZNF664-FAM101A chr12 124746315 124746415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF664-FAM101A chr12 124804247 124804297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 124809501 124833000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOR2 chr12 124818965 124819024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCOR2 chr12 124823332 124823399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCOR2 chr12 124833001 125033500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOR2 chr12 124890000 132290000 Loss Breast cancer aCGH 21509527 AACS,BRI3BP,DHX37,FLJ31485,FLJ37505,FZD10,GLT1D1,GPR133,LINC00507,LOC100128554,LOC100190940,LOC100507206,LOC116437,LOC387895,LOC400084,LOC440117,MIR3612,MIR5188,NCOR2,PIWIL1,RAN,RIMBP2,SCARB1,SFSWAP,SLC15A4,STX2,TMEM132B,TMEM132C,TMEM132D,UBC chr12 124905416 124905491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCOR2 chr12 124950361 124950450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCOR2 chr12 124986997 124987097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCOR2 chr12 12501060 12501588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MANSC1 chr12 125033501 125035000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOR2 chr12 125035001 125186500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOR2 chr12 125109 159147 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM138D chr12 12511921 12674391 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DUSP16,LOH12CR1 chr12 125119842 125153083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 125160984 125161054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 125170833 125170913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 125186501 125187500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 125187501 125241500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 12520098 12606584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOH12CR1 chr12 12520098 12606584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOH12CR1 chr12 12520098 12606584 Gain and loss Pancreatic cancer SNP array 17952125 LOH12CR1 chr12 12520098 12606584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOH12CR1 chr1 212521199 212577096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5A,SNORA16B,TMEM206 chr1 212521199 212577096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5A,SNORA16B,TMEM206 chr12 125241501 125243000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 125243001 125776000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AACS,BRI3BP,DHX37,MIR5188,SCARB1,UBC chr12 125278456 125317319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCARB1 chr12 125279781 125315894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCARB1 chr12 125291998 125323658 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCARB1 chr12 125299634 125331771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCARB1 chr12 125302094 125328704 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCARB1 chr12 125320665 125320765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCARB1 chr12 125349457 125355550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 125358126 126141645 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AACS,BRI3BP,DHX37,MIR5188,TMEM132B,UBC chr12 125388402 125395161 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 125391355 125391445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 125441494 125475065 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX37 chr12 125443697 125475065 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX37 chr12 125447271 125475286 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX37 chr12 125471055 125471368 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DHX37 chr12 125495380 125523280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRI3BP chr12 125495380 125523280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRI3BP chr12 125511094 125533384 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 125532812 125755075 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AACS chr12 125557317 125579352 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AACS chr12 125566291 125570543 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AACS chr12 12557043 12570375 Loss Normal 244K array 17666407 LOH12CR1 chr1 212558909 212909663 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATF3,BATF3,FAM71A,NENF,NSL1,TMEM206 chr12 125592743 125592795 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125592793 125592842 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125592840 125592889 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125592887 125592936 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125592934 125592983 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125592981 125593030 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593028 125593077 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593075 125593124 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593122 125593171 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593169 125593218 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593216 125593265 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593263 125593312 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593310 125593359 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593357 125593406 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593404 125593453 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593451 125593500 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593498 125593547 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593545 125593594 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593592 125593641 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593639 125593688 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593686 125593735 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125593733 125593797 Gain and loss Pancreatic cancer SNP array 17952125 AACS chr12 125632501 125636300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 125633960 125634009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 125634148 125634197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 12569624 12570624 Loss Osteosarcoma References 21215367 LOH12CR1 chr12 12573054 12574054 Loss Osteosarcoma References 21215367 LOH12CR1 chr12 125754252 125754757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 125763027 125763102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 125765902 125766240 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 212576739 224041893 Deletion Normal Arbitrated Peel-off 21527027 AIDA,ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,BROX,C1orf115,C1orf140,C1orf227,C1orf65,CAPN2,CAPN8,CENPF,DISP1,DUSP10,EPRS,ESRRG,FAM177B,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,NENF,NSL1,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA36B,SPATA17,SUSD4,TAF1A,TATDN3,TGFB2,TLR5,TMEM206,TP53BP2,USH2A,VASH2 chr1 212576739 224041893 Deletion Normal GeneGISTIC 21527027 AIDA,ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,BROX,C1orf115,C1orf140,C1orf227,C1orf65,CAPN2,CAPN8,CENPF,DISP1,DUSP10,EPRS,ESRRG,FAM177B,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,NENF,NSL1,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA36B,SPATA17,SUSD4,TAF1A,TATDN3,TGFB2,TLR5,TMEM206,TP53BP2,USH2A,VASH2 chr1 212576739 224041893 Deletion Normal Standard peel-off 21527027 AIDA,ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,BROX,C1orf115,C1orf140,C1orf227,C1orf65,CAPN2,CAPN8,CENPF,DISP1,DUSP10,EPRS,ESRRG,FAM177B,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,NENF,NSL1,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA36B,SPATA17,SUSD4,TAF1A,TATDN3,TGFB2,TLR5,TMEM206,TP53BP2,USH2A,VASH2 chr12 125776001 125779500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 125779501 126216000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM132B chr12 125791207 125791291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 125793235 125796735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 125793235 125796735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 125794991 125795091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 125828962 125856046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132B chr12 125834994 125862033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132B chr12 125836404 125862796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132B chr12 12586928 12587928 Gain Osteosarcoma References 21215367 LOH12CR1 chr12 12587000 12691165 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DUSP16,LOH12CR1 chr12 125875006 125881162 Deletion Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V6 BeadChip 22016809 TMEM132B chr12 125900000 133851895 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 ANHX,ANKLE2,CHFR,DDX51,EP400,EP400NL,FBRSL1,FLJ31485,FLJ37505,FZD10,GALNT9,GLT1D1,GOLGA3,GPR133,LINC00507,LOC100128554,LOC100130238,LOC100190940,LOC100507206,LOC116437,LOC387895,LOC400084,LOC440117,LRCOL1,MIR3612,MMP17,NOC4L,P2RX2,PGAM5,PIWIL1,POLE,PUS1,PXMP2,RAN,RIMBP2,SFSWAP,SLC15A4,SNORA49,STX2,TMEM132B,TMEM132C,TMEM132D,ULK1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF84 chr12 125901110 125901164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132B chr12 125951518 125951640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132B chr12 125970553 125975709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132B chr1 212597714 212791574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF3,NENF chr1 212597714 212791574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF3,NENF chr12 12597865 12598865 Loss Osteosarcoma References 21215367 LOH12CR1 chr12 125979504 125991317 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM132B chr12 12600000 14800000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 APOLD1,ATF7IP,C12orf36,CDKN1B,CREBL2,DDX47,DUSP16,EMP1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,KIAA1467,LOC100506314,LOH12CR1,MIR613,MIR614,PLBD1,RPL13AP20 chr12 12600000 14800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APOLD1,ATF7IP,C12orf36,CDKN1B,CREBL2,DDX47,DUSP16,EMP1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,KIAA1467,LOC100506314,LOH12CR1,MIR613,MIR614,PLBD1,RPL13AP20 chr12 12600000 14800000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 APOLD1,ATF7IP,C12orf36,CDKN1B,CREBL2,DDX47,DUSP16,EMP1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,KIAA1467,LOC100506314,LOH12CR1,MIR613,MIR614,PLBD1,RPL13AP20 chr12 12600000 26300000 Gain Breast cancer - 16397240 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCAT1,BHLHE41,C12orf36,C12orf39,C12orf60,C12orf69,C12orf77,CAPZA3,CASC1,CDKN1B,CMAS,CREBL2,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,KCNJ8,KIAA0528,KIAA1467,KRAS,LDHB,LINC00477,LMO3,LOC100506314,LOC100506393,LOC100506451,LOH12CR1,LRMP,LYRM5,MGP,MGST1,MIR3974,MIR4302,MIR613,MIR614,MIR920,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PTPRO,PYROXD1,RASSF8,RECQL,RERG,RERGL,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,ST8SIA1,STRAP,WBP11 chr12 12600000 85100000 Inversion Neurodevelopmental disorder oligonucleotide aCGH 22521361 AAAS,ABCC9,ABCD2,ACSS3,ACVR1B,ACVRL1,ADAMTS20,ADCY6,AEBP2,AGAP2,ALG10,ALG10B,AMHR2,AMIGO2,AMN1,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATP5B,ATP5G2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf36,C12orf39,C12orf40,C12orf44,C12orf54,C12orf56,C12orf60,C12orf61,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf77,C1QL4,CACNB3,CALCOCO1,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC59,CCDC65,CCDC91,CCNT1,CCT2,CD63,CDK2,CDK4,CDKN1B,CELA1,CERS5,CMAS,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COX14,CPM,CPNE8,CPSF6,CREBL2,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX23,DDX47,DENND5B,DENND5B-AS1,DERA,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DNM1L,DPY19L2,DTX3,DUSP16,DYRK2,E2F7,EIF4B,EMP1,ENDOU,EPS8,ERBB3,ERGIC2,ERP27,ESPL1,ESYT1,ETNK1,FAIM2,FAM186A,FAM186B,FAM19A2,FAM60A,FAR2,FGD4,FGFR1OP2,FIGNL2,FKBP11,FLJ12825,FLJ13224,FLJ41278,FMNL3,FRS2,GALNT6,GDF11,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLYCAM1,GNS,GOLT1B,GPD1,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HDAC7,HEBP1,HELB,HIGD1C,HIST4H4,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,HTR7P1,IAPP,IFLTD1,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IPO8,IRAK3,IRAK4,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNC2,KCNH3,KCNJ8,KCNMB4,KIAA0528,KIAA1467,KIAA1551,KIF21A,KIF5A,KLHDC5,KRAS,KRR1,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LDHB,LEMD3,LETMD1,LGR5,LIMA1,LIN7A,LINC00477,LINC00592,LLPH,LMBR1L,LMO3,LOC100130776,LOC100240734,LOC100240735,LOC100287314,LOC100335030,LOC100506314,LOC100506393,LOC100506451,LOC100506844,LOC100507250,LOC100507377,LOC100652999,LOC101055625,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LOH12CR1,LRIG3,LRMP,LRP1,LRRC10,LRRK2,LYRM5,LYZ,MANSC4,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED21,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGP,MGST1,MIP,MIR1228,MIR1252,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR3913-1,MIR3913-2,MIR3974,MIR4302,MIR4698,MIR4699,MIR4701,MIR548C,MIR548Z,MIR5692B,MIR613,MIR614,MIR615,MIR617,MIR618,MIR920,MIRLET7I,MLL2,MMP19,MON2,MRPS35,MRS2P2,MSRB3,MUCL1,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,PA2G4,PAN2,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PFDN5,PFKM,PHLDA1,PIK3C2G,PIP4K2C,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PMEL,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1R12A,PPP1R1A,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PTHLH,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PYROXD1,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RASSF8,RBMS2,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RHEBL1,RND1,RNF41,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SKP1P2,SLC11A2,SLC15A5,SLC16A7,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SOX5,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,SSPN,ST8SIA1,STAC3,STAT2,STAT6,STK38L,STRAP,SUOX,SYT1,SYT10,TAC3,TARBP2,TBC1D15,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM19,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TMTC1,TMTC2,TPH2,TRHDE,TRHDE-AS1,TROAP,TSFM,TSPAN11,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,USP15,VDR,WBP11,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF740 chr12 126022636 126022774 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132B chr12 126022674 126022777 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132B chr12 126050253 126066359 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM132B chr12 126053006 126061036 Copy number loss Normal High-resolution SNP genotyping 21211785 TMEM132B chr12 126061036 132349534 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ31485,FLJ37505,FZD10,GLT1D1,GPR133,LINC00507,LOC100128554,LOC100190940,LOC100507206,LOC116437,LOC387895,LOC400084,LOC440117,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132B,TMEM132C,TMEM132D chr12 126068578 126068805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132B chr12 126124709 126124808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132B chr12 126140001 126158893 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM132B chr12 126141646 126151541 Copy number Normal Birdsuite, version 1.5.2 22087296 TMEM132B chr12 126141646 126151541 Loss Normal Birdsuite, version 1.5.2 22087296 TMEM132B chr12 126143401 126147715 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132B chr12 126144752 126172802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 126150517 126164250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 126153221 126165015 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 126154226 126167818 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 126157843 126170322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 126162573 126168910 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 126175191 126175286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 126175333 126175867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 126198290 126198364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 126200078 126200799 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 126208465 126243631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 126216001 126217000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 126216406 126216940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 126217001 127070500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100128554,LOC400084 chr12 126226380 126226705 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 126254746 126254778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1 26300000 Gain Malignant germ cell tumour CGH microscopy 17285132 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ART4,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CASC1,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETNK1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,ST8SIA1,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 26300000 Loss Acute lymphoblastic leukemia array CGH 17690704 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ART4,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CASC1,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETNK1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,ST8SIA1,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 12632475 12632575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUSP16 chr12 126330780 126330852 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 126330780 126330928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 126407285 126407384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 212647682 212647782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 126493879 126493979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 126513220 126513271 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 126554347 126554447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12656098 12689308 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DUSP16 chr12 12656098 12689308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP16 chr12 12656098 12689308 Gain and loss Pancreatic cancer SNP array 17952125 DUSP16 chr12 12656098 12689308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP16 chr12 12658674 12658764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUSP16 chr12 126603931 126604247 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 126628763 126628872 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 126628764 126628872 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 126669834 126669945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 212667710 212667789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 126737931 132373208 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 FLJ31485,FLJ37505,FZD10,GLT1D1,GPR133,LINC00507,LOC100128554,LOC100190940,LOC100507206,LOC116437,LOC387895,LOC440117,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr1 212674442 212674542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12676068 12702811 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DUSP16 chr12 126802754 126802942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 126803020 126803130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12683225 12703221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DUSP16 chr12 126841992 126858452 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 126844101 126844201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 126847638 126864126 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 12687540 12688540 Gain Osteosarcoma References 21215367 DUSP16 chr12 126894246 126894530 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 126920657 127172564 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 LOC100128554 chr1 212692931 212692963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 126975240 126975340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12698522 12699201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DUSP16 chr12 127000040 127000140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12705092 12728722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DUSP16 chr12 12705092 12728722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP16 chr12 12705092 12728722 Gain and loss Pancreatic cancer SNP array 17952125 DUSP16 chr12 12705092 12728722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP16 chr12 12706086 12812399 Deletion Normal Arbitrated Peel-off 21527027 CREBL2,DUSP16 chr12 12706086 12812399 Deletion Normal GeneGISTIC 21527027 CREBL2,DUSP16 chr12 12706086 12812399 Deletion Normal Standard peel-off 21527027 CREBL2,DUSP16 chr1 212722773 212723353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 212722773 212723353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 127252701 127258800 Deletion Glioma mate-paired sequence 20126413 LOC387895 chr12 127263358 127263458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21272650 21272833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF4G3 chr12 127314197 127340293 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 127332577 127340094 Gain Normal 244K array 17666407 NOT_FOUND chr12 127348346 127842369 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 LOC440117 chr12 127368945 127369045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12740508 13171749 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 APOLD1,CDKN1B,CREBL2,DDX47,GPR19,GPRC5A,GPRC5D,HEBP1,HTR7P1,LOC100506314,MIR613,MIR614,RPL13AP20 chr12 127474822 127479857 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 127498196 127498494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 1 27536209 Allelic imbalance Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CASC1,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETNK1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FGFR1OP2,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MED21,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 1 27536209 Copy number gain Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CASC1,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETNK1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FGFR1OP2,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MED21,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 12754738 12770836 Deletion Normal Standard GISTIC 21527027 CREBL2 chr12 127568655 127568755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 127597185 127906190 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 12761575 12766570 Copy number Lung cancer - 20668451 CREBL2 chr12 12761575 12766570 Deletion Normal GISTIC2.0 21527027 CREBL2 chr12 12761575 12766570 Gain or loss Breast cancer - 20668451 CREBL2 chr12 12761575 12766570 Gain or loss Cancer - 20668451 CREBL2 chr12 12761575 12766570 Gain or loss Lung cancer - 20668451 CREBL2 chr12 12761575 12766570 Gain or loss Ovarian cancer - 20668451 CREBL2 chr12 12761575 12766570 Gain or loss Pancreas cancer - 20668451 CREBL2 chr12 12761575 12766570 Gain or loss Prostate cancer - 20668451 CREBL2 chr12 12761576 12766569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREBL2 chr12 12761576 12766569 Gain and loss Pancreatic cancer SNP array 17952125 CREBL2 chr12 12761576 12766569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREBL2 chr12 127625587 127717334 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 12764507 12764607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12764686 21641430 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,C12orf36,C12orf60,C12orf69,CAPZA3,CDKN1B,CREBL2,DDX47,DERA,EMP1,EPS8,ERP27,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,KIAA1467,LMO3,LOC100506314,LOC100506393,MGP,MGST1,MIR3974,MIR613,MIR614,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PTPRO,PYROXD1,RECQL,RERG,RERGL,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,STRAP,WBP11 chr12 127666660 127758407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 127666660 127758407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 127682320 127906190 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 127700890 127987816 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 12770130 12835664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREBL2,GPR19 chr12 12770130 12835664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREBL2,GPR19 chr12 12770130 12874176 Gain and loss Pancreatic cancer SNP array 17952125 CDKN1B,CREBL2,GPR19 chr12 127714937 127737972 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 127720378 127720472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 212772316 212773306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF3 chr12 127749172 127774140 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 212775322 223662952 Deletion Normal Standard GISTIC 21527027 AIDA,ANGEL2,ATF3,AURKAPS1,BATF3,BPNT1,BROX,C1orf115,C1orf140,C1orf227,C1orf65,CENPF,DISP1,DUSP10,EPRS,ESRRG,FAM177B,FAM71A,FLVCR1,FLVCR1-AS1,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LINC00210,LINC00538,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,NSL1,PROX1,PTPN14,RAB3GAP2,RNU5F-1,RPS6KC1,RRP15,SLC30A10,SMYD2,SNORA36B,SPATA17,SUSD4,TAF1A,TATDN3,TGFB2,TLR5,USH2A,VASH2 chr12 127769093 127769183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 127770571 127770671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 127791187 127833426 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 127791187 127833426 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 127793794 127793839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 127795646 127798949 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 127795646 127798949 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 127795646 127799511 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 127795646 127799511 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 127796462 127798498 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 127797501 127798500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 127799511 132349534 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ31485,FLJ37505,FZD10,GLT1D1,GPR133,LINC00507,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr12 127799511 132349534 Copy number gain Normal High-resolution SNP genotyping 21211785 FLJ31485,FLJ37505,FZD10,GLT1D1,GPR133,LINC00507,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr12 127802645 127833421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 127804460 127823735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 127805934 127806034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 127843720 127874494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 127843720 127874494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 127862859 127994389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 127864550 127864808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 127896001 127897000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 127904034 128035462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 127904034 128035462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 127920001 128012500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 127921892 127950290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 127929551 128005664 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 127949962 127950055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12800000 14800000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 APOLD1,ATF7IP,C12orf36,CDKN1B,DDX47,EMP1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,KIAA1467,LOC100506314,MIR613,MIR614,PLBD1,RPL13AP20 chr12 12800000 14800000 Gain Leukemia RQ-PCR 18688285 APOLD1,ATF7IP,C12orf36,CDKN1B,DDX47,EMP1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,KIAA1467,LOC100506314,MIR613,MIR614,PLBD1,RPL13AP20 chr12 128001947 128169376 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr1 212801608 212834722 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 128052892 128073301 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 128054406 128054506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 128055235 128055843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 128075129 128106109 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 128081151 128912764 Gain and loss Pancreatic cancer SNP array 17952125 FLJ37505,LINC00507,MIR3612,TMEM132C chr12 12808850 12808944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 212808989 212809089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 212810316 212810398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 128122223 128954165 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FLJ37505,LINC00507,MIR3612,TMEM132C chr12 128122226 128953837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ37505,LINC00507,MIR3612,TMEM132C chr12 128122226 128953837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ37505,LINC00507,MIR3612,TMEM132C chr12 128138501 128140000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 128140001 129056000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ37505,LINC00507,MIR3612,TMEM132C chr12 128150297 128150517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 128151066 128168183 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 128155263 128155419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 128240648 128241089 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr12 128241078 128241152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 128282151 128282225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 128321686 128324835 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 128361448 128361728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 212836727 212837060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 128406642 128406954 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00507 chr12 128426305 128445232 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00507 chr1 212843154 212904537 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 BATF3,NSL1 chr1 212843155 212904535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BATF3,NSL1 chr1 212843155 212904535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BATF3,NSL1 chr1 212845436 212848806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 212845436 212848806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 212846001 212848500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 128465362 132449811 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 EP400,FLJ31485,FZD10,GLT1D1,GPR133,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,PUS1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D,ULK1 chr12 128471344 128658697 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 128471344 129640456 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GLT1D1,MIR3612,SLC15A4,TMEM132C,TMEM132D chr12 128483626 128483726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 128497488 128532556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 212852927 212853364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 128543200 128570931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 128544725 128544825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 128549399 128549499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 12857547 12874176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDKN1B chr12 12857547 12874176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDKN1B chr12 128594613 128594713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 128624267 128628227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 128626241 128626571 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 128648179 128681798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 212865574 212865674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BATF3 chr12 128688978 128689107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 128700000 132349534 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FLJ31485,FZD10,GLT1D1,GPR133,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr12 128700000 132349534 Copy number Normal - 21701786 FLJ31485,FZD10,GLT1D1,GPR133,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr12 128700000 132349534 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FLJ31485,FZD10,GLT1D1,GPR133,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr12 128700000 132349534 Loss Normal Human genome CGH 70k ARRAY PLATFORM 22144094 FLJ31485,FZD10,GLT1D1,GPR133,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr12 128700000 132349534 Loss Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 FLJ31485,FZD10,GLT1D1,GPR133,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr12 128700000 132349534 Loss Urothelial cell carcinoma FISH 18451213 FLJ31485,FZD10,GLT1D1,GPR133,LOC100190940,LOC116437,MIR3612,MMP17,PIWIL1,RAN,RIMBP2,SFSWAP,SLC15A4,STX2,TMEM132C,TMEM132D chr12 12870301 12875305 Amplification Pituitary adenoma SALSA Multiplex Ligation-dependent Probe Amplification assay 20530095 CDKN1B chr12 128710000 128910000 Loss Acute lymphoblastic leukemia - 21339820 MIR3612,TMEM132C chr12 12873623 12874134 Gain Ewing's sarcoma Array CGH 19144156 CDKN1B chr1 212874201 213936800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANGEL2,C1orf227,FLVCR1,FLVCR1-AS1,NSL1,RPS6KC1,TATDN3,VASH2 chr12 128770070 128770170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 128817682 128817742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 128818280 128818343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 128822787 128822876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 128822925 128823020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 128849195 128849246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132C chr12 128855726 128855826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 128859601 128866000 Deletion Glioma mate-paired sequence 20126413 TMEM132C chr12 128863738 128908706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132C chr12 128864866 128868436 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132C chr12 128866485 128866539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 128881570 128919047 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM132C chr12 12894046 12894130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APOLD1 chr12 128949614 128949927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132C chr12 12895183 12895905 Gain and loss Pancreatic cancer SNP array 17952125 APOLD1 chr12 128957794 128957826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 128975179 128975233 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132C chr12 128990013 128990187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132C chr12 128991812 128991912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 129008924 129009007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132C chr12 129026825 129184406 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 TMEM132C chr1 21290405 21362213 Gain and loss Pancreatic cancer SNP array 17952125 EIF4G3 chr12 129051441 129063563 Deletion Normal Standard GISTIC 21527027 TMEM132C chr12 129083972 129086859 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TMEM132C chr12 129084274 129092840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132C chr12 129085617 129099707 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM132C chr12 129085836 129099707 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM132C chr1 212908770 212908860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NSL1 chr12 12908902 12909215 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APOLD1 chr12 129167979 131346667 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 FLJ31485,FZD10,GLT1D1,LOC100190940,PIWIL1,RIMBP2,SLC15A4,STX2,TMEM132C,TMEM132D chr12 129171884 129175164 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132C chr12 12919700 12920311 Gain and loss Pancreatic cancer SNP array 17952125 APOLD1 chr12 129212984 129216238 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 129212984 129216238 Gain or loss Cancer - 20668451 NOT_FOUND chr12 129212984 129216238 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 129212984 129216238 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 129212984 129216238 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 129212984 129216238 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 129212985 129216237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 129212985 129216237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 129247253 129275330 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 129264315 129264415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 129300000 133851895 Gain and amplification Multiple myeloma Array CGH 16616336 ANHX,ANKLE2,CHFR,DDX51,EP400,EP400NL,FBRSL1,FLJ31485,FZD10,GALNT9,GLT1D1,GOLGA3,GPR133,LOC100130238,LOC100190940,LOC116437,LRCOL1,MMP17,NOC4L,P2RX2,PGAM5,PIWIL1,POLE,PUS1,PXMP2,RAN,RIMBP2,SFSWAP,SLC15A4,SNORA49,STX2,TMEM132D,ULK1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF84 chr12 129300000 133851895 Gain Breast cancer Microarray-based CGH 17133270 ANHX,ANKLE2,CHFR,DDX51,EP400,EP400NL,FBRSL1,FLJ31485,FZD10,GALNT9,GLT1D1,GOLGA3,GPR133,LOC100130238,LOC100190940,LOC116437,LRCOL1,MMP17,NOC4L,P2RX2,PGAM5,PIWIL1,POLE,PUS1,PXMP2,RAN,RIMBP2,SFSWAP,SLC15A4,SNORA49,STX2,TMEM132D,ULK1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF84 chr12 129300000 133851895 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ANHX,ANKLE2,CHFR,DDX51,EP400,EP400NL,FBRSL1,FLJ31485,FZD10,GALNT9,GLT1D1,GOLGA3,GPR133,LOC100130238,LOC100190940,LOC116437,LRCOL1,MMP17,NOC4L,P2RX2,PGAM5,PIWIL1,POLE,PUS1,PXMP2,RAN,RIMBP2,SFSWAP,SLC15A4,SNORA49,STX2,TMEM132D,ULK1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF84 chr12 129300000 133851895 Heterozygous duplication Charcot-marie-tooth disease Capillary MAPH 16813644 ANHX,ANKLE2,CHFR,DDX51,EP400,EP400NL,FBRSL1,FLJ31485,FZD10,GALNT9,GLT1D1,GOLGA3,GPR133,LOC100130238,LOC100190940,LOC116437,LRCOL1,MMP17,NOC4L,P2RX2,PGAM5,PIWIL1,POLE,PUS1,PXMP2,RAN,RIMBP2,SFSWAP,SLC15A4,SNORA49,STX2,TMEM132D,ULK1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF84 chr12 129300000 133851895 Loss Pilocytic astrocytoma Affymetrix GeneChip HG_U133A 18670637 ANHX,ANKLE2,CHFR,DDX51,EP400,EP400NL,FBRSL1,FLJ31485,FZD10,GALNT9,GLT1D1,GOLGA3,GPR133,LOC100130238,LOC100190940,LOC116437,LRCOL1,MMP17,NOC4L,P2RX2,PGAM5,PIWIL1,POLE,PUS1,PXMP2,RAN,RIMBP2,SFSWAP,SLC15A4,SNORA49,STX2,TMEM132D,ULK1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF84 chr12 129325032 129325102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 129325103 129325161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 129325162 129325226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 129347516 129381747 Gain and loss Pancreatic cancer SNP array 17952125 GLT1D1 chr12 12934983 12957833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOLD1 chr12 12934983 12957833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOLD1 chr12 12935222 12957867 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 APOLD1 chr12 129366105 129366175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLT1D1 chr12 129366176 129366234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLT1D1 chr12 129366235 129366299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLT1D1 chr12 129376018 129404355 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLT1D1 chr12 129383928 129407514 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GLT1D1 chr12 129388567 129422825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLT1D1 chr12 129388567 129422825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLT1D1 chr12 129395820 129397079 Gain and loss Pancreatic cancer SNP array 17952125 GLT1D1 chr12 129408560 129725706 Gain and loss Pancreatic cancer SNP array 17952125 GLT1D1,TMEM132D chr12 129425575 129465840 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 GLT1D1 chr12 129427981 129453884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLT1D1 chr12 129446635 129568363 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GLT1D1,TMEM132D chr12 129446635 129568363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLT1D1,TMEM132D chr12 129446635 129568363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLT1D1,TMEM132D chr12 12952451 12957839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 129531588 129531588 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 129557242 129557339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 129577001 129617000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM132D chr12 129590029 129590539 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TMEM132D chr12 12960030 12960119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 129600721 132216957 Deletion Breast cancer FISH 17142309 FLJ31485,FZD10,GPR133,LOC100190940,LOC116437,PIWIL1,RAN,RIMBP2,SFSWAP,STX2,TMEM132D chr12 129602302 129962509 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 TMEM132D chr12 129614500 129614613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 129625427 129625682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 129646048 129677487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132D chr12 129654053 129657407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132D chr12 129654590 129662082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132D chr12 129657577 129658606 Loss Normal 244K array 17666407 TMEM132D chr12 129659881 129660177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 129697890 129699820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 129714262 129716322 Gain Normal Birdsuite, version 1.5.2 22087296 TMEM132D chr1 212975550 212975700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TATDN3 chr12 129764001 129766500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM132D chr12 129775631 129775715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 129796125 129831001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132D chr12 129799029 129848691 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 12982393 12983393 Gain Osteosarcoma References 21215367 DDX47 chr12 129824778 129824853 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 129832315 129832565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 129840102 129889764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 129840102 129889764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 12984279 12994585 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 12984279 12994585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 12984279 12994585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 12984976 12994585 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 12985242 13416766 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 EMP1,GPRC5A,GPRC5D,GSG1,HEBP1,HTR7P1,KIAA1467,LOC100506314,MIR614,RPL13AP20 chr12 129860228 129860328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 129865851 129865926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 129870370 129870470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 129879161 129879262 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 129879185 129879262 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 129881448 129886243 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 129916263 129916372 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 129920229 129920335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 129922520 129927316 Gain or loss Breast cancer - 20668451 TMEM132D chr12 129922520 129927316 Gain or loss Cancer - 20668451 TMEM132D chr12 129922520 129927316 Gain or loss Lung cancer - 20668451 TMEM132D chr12 129922520 129927316 Gain or loss Ovarian cancer - 20668451 TMEM132D chr12 129922520 129927316 Gain or loss Pancreas cancer - 20668451 TMEM132D chr12 129922520 129927316 Gain or loss Prostate cancer - 20668451 TMEM132D chr12 129922521 129927316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 129922521 129927316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 129923501 130053000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM132D chr12 129931661 129931760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 129933049 129933392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 129952606 129952706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 129957336 129957447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 129963717 130150886 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 129996858 129996958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 129998657 129999079 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 130004790 130189786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 130004790 130189786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 130039104 130039649 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 130064512 130064573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 130074586 130077088 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TMEM132D chr12 130080174 130080722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 130083224 130083451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 130093015 130126367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM132D chr12 130146232 130146332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 13016254 13016344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 13017606 13020278 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 13019070 13044488 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPRC5A,RPL13AP20 chr12 13019070 13044488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPRC5A,RPL13AP20 chr12 13019070 13044488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPRC5A,RPL13AP20 chr12 13019071 13044487 Gain and loss Pancreatic cancer SNP array 17952125 GPRC5A,RPL13AP20 chr12 130215509 130263428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 130215509 130263428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 130255983 130344257 Loss or gain Normal 244K array 17666407 TMEM132D chr12 130289244 130301344 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM132D chr12 130289496 130380887 Copy number Type 2 diabetes ILLumia HumanHap314 BeadChip 21526130 TMEM132D chr12 130309080 130309176 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132D chr12 130328640 130329179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 130330769 130330854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132D chr12 130337784 130343385 Loss Normal Birdsuite, version 1.5.2 22087296 TMEM132D chr1 213034818 213034918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLVCR1 chr12 130348501 130355000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM132D chr12 130350138 130350249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132D chr12 130357007 130357379 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TMEM132D chr12 130360121 130362400 Gain or loss Normal Birdsuite, version 1.5.2 22087296 TMEM132D chr12 130362400 130369745 Loss Normal Birdsuite, version 1.5.2 22087296 TMEM132D chr12 130369745 130382165 Loss Normal Birdsuite, version 1.5.2 22087296 TMEM132D chr12 130371694 130509579 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TMEM132D chr12 130371694 130935124 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ31485,FZD10,LOC100190940,PIWIL1,RIMBP2,TMEM132D chr12 130374756 130398112 Copy number Normal - 20703242 TMEM132D chr12 130381857 130381936 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM132D chr12 130382165 130382166 Loss Normal Birdsuite, version 1.5.2 22087296 TMEM132D chr12 130382166 130391707 Gain or loss Normal Birdsuite, version 1.5.2 22087296 TMEM132D chr12 130388049 130664946 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 FLJ31485,FZD10,LOC100190940,TMEM132D chr12 130391707 130391708 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 130423233 130423324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 13044079 13046444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPRC5A chr12 13044079 13046444 Gain and loss Pancreatic cancer SNP array 17952125 GPRC5A chr12 13044079 13046444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPRC5A chr12 130454831 130455051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130454940 130455040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130455045 130455278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130473927 130500455 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 130480603 130500455 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 130491304 130491402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130494434 130494540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 130528154 130528263 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 NOT_FOUND chr12 130567926 130568001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 213057205 213057305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLVCR1 chr12 130575913 130576006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130577 142489 Copy number Autism exome sequencing 22495311 NOT_FOUND chr12 1 30600000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGF23,FGF6,FGFR1OP2,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 130617932 130618012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130620980 130623327 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 130622439 130622497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130626597 130626706 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 213064983 213651371 Amplification T-cell lymphomas Array-CGH 22341440 ANGEL2,FLVCR1,RPS6KC1,VASH2 chr1 213064983 213651371 Gain and loss Pancreatic cancer SNP array 17952125 ANGEL2,FLVCR1,RPS6KC1,VASH2 chr12 130680837 130686668 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 130686201 130708271 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 130686539 130699288 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 130686657 130708271 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 13068697 13069456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR614 chr12 130711071 130711171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130711561 130711672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 213071191 213078094 Loss Normal Birdsuite, version 1.5.2 22087296 FLVCR1 chr12 130712501 130715000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 130752664 130752735 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 130761588 130850235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIWIL1 chr12 130761588 130850235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIWIL1 chr12 130763382 130780045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 130764105 130786863 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 130799188 130801346 Loss Normal 244K array 17666407 NOT_FOUND chr12 130811838 130811934 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 130814962 130844483 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PIWIL1 chr12 130815441 130844483 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PIWIL1 chr12 1308252 1308870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERC1 chr12 1308252 1308871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERC1 chr12 130842653 130884136 Gain Normal Birdsuite, version 1.5.2 22087296 PIWIL1,RIMBP2 chr12 130851813 130851932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIWIL1 chr12 130859749 130859849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130860672 131499824 LOH Normal High-resolution SNP genotyping 21211785 GPR133,RAN,RIMBP2,STX2 chr12 130861865 130950512 Gain and loss Pancreatic cancer SNP array 17952125 RIMBP2 chr12 130865761 130865866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 130872819 131618922 Gain small cell lung cancer Real-time Quantitative PCR 17426248 GPR133,RAN,RIMBP2,STX2 chr12 130876501 130915000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RIMBP2 chr12 130878891 130902269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMBP2 chr12 130878891 130902269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMBP2 chr12 13088001 13089000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 13088581 13127650 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 GPRC5D chr12 13088582 13127648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPRC5D chr12 13088582 13127648 Gain and loss Pancreatic cancer SNP array 17952125 GPRC5D chr12 13088582 13127648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPRC5D chr12 13089001 29735500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC9,AEBP2,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,BCAT1,BHLHE41,C12orf36,C12orf39,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,CAPZA3,CASC1,CCDC91,CMAS,DERA,EMP1,EPS8,ERGIC2,ERP27,ETNK1,FAR2,FGFR1OP2,GOLT1B,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KIAA1467,KLHDC5,KRAS,LDHB,LINC00477,LMO3,LOC100506314,LOC100506393,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,MGP,MGST1,MIR3974,MIR4302,MIR920,MRPS35,OVCH1,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PPFIBP1,PTHLH,PTPRO,PYROXD1,RASSF8,RECQL,REP15,RERG,RERGL,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,STRAP,TM7SF3,TMTC1,WBP11 chr12 130898191 131014585 Deletion Normal Arbitrated Peel-off 21527027 RIMBP2 chr12 13090336 13090439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 13090353 13090442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 13090353 13090470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 13090355 13090458 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 13090357 13090453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 130915718 132074850 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 GPR133,LOC116437,RAN,RIMBP2,STX2 chr12 13093016 13093116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 130945232 130973649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMBP2 chr12 130945232 130973649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMBP2 chr12 130945501 130981500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RIMBP2 chr12 130945521 130946288 Gain Autism 1M Ailent CGH whole-genome array 21865298 RIMBP2 chr12 130945521 130946288 Loss Autism 1M Ailent CGH whole-genome array 21865298 RIMBP2 chr12 130952089 130952205 Gain and loss Pancreatic cancer SNP array 17952125 RIMBP2 chr12 130952093 130952206 Gain and loss Pancreatic cancer SNP array 17952125 RIMBP2 chr12 130966038 130966140 Gain and loss Pancreatic cancer SNP array 17952125 RIMBP2 chr12 130966038 130966143 Gain and loss Pancreatic cancer SNP array 17952125 RIMBP2 chr12 130979168 131002546 Gain and loss Pancreatic cancer SNP array 17952125 RIMBP2 chr12 130979742 130994355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMBP2 chr12 130979742 130994355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMBP2 chr12 130992719 130992869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIMBP2 chr12 1 3100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TULP3,WNK1,WNT5B chr12 1 3100000 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TULP3,WNK1,WNT5B chr12 1 3100000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TULP3,WNK1,WNT5B chr12 1 3100000 Copy number Glaucoma Affymetrix 500K two-chip SNP array 21310917 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TULP3,WNK1,WNT5B chr12 1 3100000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TULP3,WNK1,WNT5B chr12 1 3100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TULP3,WNK1,WNT5B chr12 1 3100000 Gain Squamous cell cancer array-CGH 19607727 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TULP3,WNK1,WNT5B chr12 131000461 131130958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMBP2 chr12 131000461 131130958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMBP2 chr12 13102397 13102429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPRC5D chr12 131036585 131036678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 131038755 131189564 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 131045509 131073926 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131056944 131085825 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 131080043 131094632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131081722 131081857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 213108465 213153448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VASH2 chr12 131096816 131096916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 131111359 131231241 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 213111223 213111649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131128322 131128422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 131134783 131176838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131134783 131176838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131181999 131182135 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131182501 131677500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR133,LOC116437,RAN,STX2 chr12 131187095 131194833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131187095 131194833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131194946 131202939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131194946 131202939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131213323 131248989 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 131213323 131261920 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 131213323 131368736 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RAN,STX2 chr12 131213323 131397451 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RAN,STX2 chr12 131221981 131222080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 131231370 132057348 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-758K arrays 21546498 GPR133,LOC116437,RAN,STX2 chr12 131238678 131297006 Copy number Lung cancer paired-end sequencing 18438408 STX2 chr12 131246869 131415978 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 RAN,STX2 chr12 131246873 131415862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAN,STX2 chr12 131246873 131415862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAN,STX2 chr12 131254796 131274355 Gain and loss Pancreatic cancer SNP array 17952125 STX2 chr12 13127761 13147846 Gain and loss Pancreatic cancer SNP array 17952125 HEBP1,LOC100506314 chr12 13128309 13147886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEBP1,LOC100506314 chr12 13128309 13147886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEBP1,LOC100506314 chr12 131289274 131295083 Gain and loss Pancreatic cancer SNP array 17952125 STX2 chr12 131289291 131304323 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STX2 chr12 131295223 131303216 Copy number Autism Illumina Humanhap300 Beadchips 19492091 STX2 chr12 131295223 131303216 Gain and loss Pancreatic cancer SNP array 17952125 STX2 chr1 213129526 213129603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VASH2 chr12 131296817 131315258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STX2 chr1 21312973 21313046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF4G3 chr12 131326791 132349534 Substitutions and indels small cell lung cancer array-CGH 20016488 GPR133,LOC116437,MMP17,RAN,SFSWAP chr12 131340441 132349534 Copy number Lung cancer paired-end sequencing 18438408 GPR133,LOC116437,MMP17,RAN,SFSWAP chr12 131347882 131516139 Copy number Autism Illumina Humanhap300 Beadchips 19492091 GPR133,RAN chr12 131347882 131516139 Gain and loss Pancreatic cancer SNP array 17952125 GPR133,RAN chr12 1313502 1313590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC1 chr12 131361357 131361457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 131362142 131364988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131362142 131364988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 213136703 213136906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VASH2 chr1 213136908 213137096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VASH2 chr12 131382539 131382747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 131383884 131831750 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-753K arrays 21546498 GPR133,LOC116437 chr12 131393067 131393167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13142734 13142834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEBP1 chr12 131452288 131452582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR133 chr12 13148583 13148683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEBP1 chr12 131531599 131531680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR133 chr12 131542651 131542809 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR133 chr12 131545080 132349534 LOH Normal High-resolution SNP genotyping 21211785 GPR133,LOC116437,MMP17,SFSWAP chr12 131559407 131560799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR133 chr12 131561244 132349534 LOH Normal High-resolution SNP genotyping 21211785 GPR133,LOC116437,MMP17,SFSWAP chr12 131561392 131562108 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 GPR133 chr12 131569880 131570087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR133 chr12 131577519 131594809 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 GPR133 chr12 131587995 131588095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR133 chr12 131596273 131598605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR133 chr12 131596273 131598605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR133 chr12 131615197 131615287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR133 chr12 131620799 131620878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR133 chr12 131622706 131622823 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 GPR133 chr12 131624856 132349534 LOH Normal High-resolution SNP genotyping 21211785 GPR133,LOC116437,MMP17,SFSWAP chr12 131642931 132349534 LOH Normal High-resolution SNP genotyping 21211785 LOC116437,MMP17,SFSWAP chr12 131657121 131670437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC116437 chr12 131659684 131661076 Gain and loss Pancreatic cancer SNP array 17952125 LOC116437 chr12 131673091 132349534 LOH Normal High-resolution SNP genotyping 21211785 LOC116437,MMP17,SFSWAP chr12 131677736 131772121 Gain and loss Pancreatic cancer SNP array 17952125 LOC116437 chr12 131689811 131691478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC116437 chr12 131701155 132349534 LOH Normal High-resolution SNP genotyping 21211785 MMP17,SFSWAP chr12 131705001 131713000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 131705476 131709045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131705476 131709045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131707523 131707584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 131710421 131774018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131710421 131774018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131713001 131721000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 131766311 131766861 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 131774265 131791649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131774265 131791649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131797509 131805819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131797509 131805819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 1318001 1320000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1 chr12 131805716 131809322 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131810604 131810716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131810698 131874295 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131812328 131848524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 213183089 213183506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANGEL2 chr12 131834994 132349534 LOH Normal High-resolution SNP genotyping 21211785 MMP17,SFSWAP chr12 131845551 131845903 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 131855568 131915361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131855568 131915361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 13187140 13260974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSG1,KIAA1467 chr12 13187140 13260974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSG1,KIAA1467 chr12 131874542 131891926 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131874783 131874853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 131882853 131888286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131895382 131895472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1 31897638 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-763K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 131897786 131906096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131910880 131910992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131910881 131910992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131912443 131948770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131913408 132349534 Deletion Cancer Affymetrix 250K Sty array 20164920 MMP17,SFSWAP chr12 131927011 131974257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131927011 131974257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 131945146 131945219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 131955845 132015638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 131979304 131979404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1320001 1471500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1 chr12 132008115 132042965 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 132008115 132042965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132008115 132042965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132012637 132013145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 132027288 132074548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 13205254 13238872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GSG1,KIAA1467 chr12 13205407 13238212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GSG1,KIAA1467 chr12 132073128 132099226 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 NOT_FOUND chr12 132073128 132099226 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 NOT_FOUND chr12 132073128 132099226 Indels Malaria PCR,Delta Delta Ct 21533027 NOT_FOUND chr12 132073129 132099226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132073129 132099226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132095571 132307316 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SFSWAP chr12 132108392 132132379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 132124239 132146259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132125292 132153559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 132134181 132134287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132165476 132268100 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SFSWAP chr12 132165476 132268100 Copy number gain Normal High-resolution SNP genotyping 21211785 SFSWAP chr12 132166654 132199409 Loss Autism 1M Ailent CGH whole-genome array 21865298 SFSWAP chr12 132167110 132194333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132167110 132194333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132168501 132349534 Copy number Normal ReadDepth: A Parallel R Package 21305028 MMP17,SFSWAP chr12 132174172 132174274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 132179112 132179307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 132180472 132199503 Gain and loss Pancreatic cancer SNP array 17952125 SFSWAP chr12 132185467 132185567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 132193767 132195379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 132206974 132208490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFSWAP chr12 132217286 132246120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SFSWAP chr12 132217286 132246120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFSWAP chr12 132224326 132246542 Gain and loss Pancreatic cancer SNP array 17952125 SFSWAP chr12 132227275 132289498 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 SFSWAP chr12 132267387 132294610 Gain and loss Pancreatic cancer SNP array 17952125 SFSWAP chr12 132268068 132289534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SFSWAP chr12 132268068 132289534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFSWAP chr12 132272075 132272075 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SFSWAP chr12 132274451 132274551 Gain and loss Pancreatic cancer SNP array 17952125 SFSWAP chr12 132281559 132281710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SFSWAP chr12 132281579 132281730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SFSWAP chr12 132281581 132281732 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SFSWAP chr12 132368942 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 13240108 21819812 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AEBP2,ARHGDIB,ART4,ATF7IP,C12orf36,C12orf39,C12orf60,C12orf69,CAPZA3,DERA,EMP1,EPS8,ERP27,GOLT1B,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HIST4H4,IAPP,LDHB,LMO3,LOC100506393,MGP,MGST1,MIR3974,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PTPRO,PYROXD1,RECQL,RERG,RERGL,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,STRAP,WBP11 chr12 13240917 13260974 Gain and loss Pancreatic cancer SNP array 17952125 GSG1 chr12 13241233 30482233 Deletion Acute myeloid leukemia - 21251322 ABCC9,AEBP2,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,BCAT1,BHLHE41,C12orf36,C12orf39,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,CAPZA3,CASC1,CCDC91,CMAS,DERA,EMP1,EPS8,ERGIC2,ERP27,ETNK1,FAR2,FGFR1OP2,GOLT1B,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HIST4H4,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KLHDC5,KRAS,LDHB,LINC00477,LMO3,LOC100506393,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,MGP,MGST1,MIR3974,MIR4302,MIR920,MRPS35,OVCH1,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PPFIBP1,PTHLH,PTPRO,PYROXD1,RASSF8,RECQL,REP15,RERG,RERGL,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,STRAP,TM7SF3,TMTC1,WBP11 chr1 213245508 213477059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPS6KC1 chr1 213245508 213477059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS6KC1 chr1 213261351 213261404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPS6KC1 chr12 132686512 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 1 32698305 Allelic imbalance Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 132873338 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 13287809 13287941 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr12 132935708 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 1 3300000 Amplification Hepatocellular carcinoma Array CGH 16750200 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr12 1 3300000 Gain Breast cancer Microarray-based CGH 17133270 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr12 1 3300000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr12 1 3300000 Loss Mental retardation Array CGH 17847001 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr12 133004015 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 133071847 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 133092118 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 1 33128615 Allelic imbalance Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 33128615 Copy number gain Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 133157707 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 13318260 13363133 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EMP1 chr12 13318568 13318652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1331994 1332146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERC1 chr12 1 33200000 Loss Myxofibrosarcoma Array CGH 16751306 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr1 213323122 213323237 Loss Autism 1M Ailent CGH whole-genome array 21865298 RPS6KC1 chr12 133235534 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 1 33300000 Copy number Endometrioid adenocarcinoma CGH 16974079 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 133416937 133464204 Copy number Esophageal adenocarcinoma quantitative Real-time PCR 20564104 CHFR chr12 133436183 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 13356877 13356970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EMP1 chr12 133707039 132349534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 1 33721768 Allelic imbalance Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 33721768 Copy number gain Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 33983718 Copy number gain Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr1 213398386 214699571 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00538,PROX1,PTPN14,RPS6KC1,SMYD2 chr1 213411804 213411904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPS6KC1 chr12 13413363 14009568 LOH Normal High-resolution SNP genotyping 21211785 C12orf36,GRIN2B chr12 13415290 13420631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 13415290 13420631 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 13415290 13420631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2134226 2134879 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf86 chr12 13425875 14159332 LOH Normal High-resolution SNP genotyping 21211785 C12orf36,GRIN2B chr12 13431565 13448864 Gain Normal 244K array 17666407 NOT_FOUND chr12 13433124 13446086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 13433492 14018295 LOH Normal High-resolution SNP genotyping 21211785 C12orf36,GRIN2B chr12 13434047 13448180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 13434486 13434586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13437282 13443454 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 1 34451374 Gain Wilms tumour 250K Genotyping Arrays 21544195 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 13470992 13473801 Gain Normal 244K array 17666407 NOT_FOUND chr12 13481216 13481912 Loss Normal 244K array 17666407 NOT_FOUND chr12 13485085 13485202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 13485104 13485198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 13485111 13485202 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 213492664 213492764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13503863 13503977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 13503871 13503977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 13503876 13503977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 13523227 15569259 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGDIB,ART4,ATF7IP,C12orf36,C12orf60,C12orf69,ERP27,GRIN2B,GUCY2C,H2AFJ,HIST4H4,MGP,PDE6H,PLBD1,PTPRO,RERG,WBP11 chr12 1 35400000 Allelic imbalance Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Amplification Normal Refference 21823210 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Copy number Cancer ICA method 16751803 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Copy number Squamous cell cancer Array comparative genomic hybridization 21044232 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Duplication T-cell acute lymphoblastic leukemia FISH 20065082 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Gain Esophageal squamous carcinoma CGH 21637470 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Gain Ewing's sarcoma CGH(Reference) 21437220 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Gain Glioblastoma multiforme aCGH 21080181 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Gain Glioblastoma multiforme CGH 19960244 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Gain or loss Endometrial cancer CGH 22040021 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Gain Testicular cancer CGH, Comparative expressed sequence hybridisation 18059402 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 In Colorectal cancer - 20709793 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Loss Breast cancer aCGH 21264507 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35400000 Loss Esophageal squamous carcinoma CGH 21637470 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr1 213559044 213567614 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 213560092 213565727 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 1 35800000 Amplification Gastric cancer Array CGH 17167181 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 1 35800000 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr1 213582100 213582200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13602429 13602529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13605411 14024319 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIN2B chr12 13605411 14024319 Gain and loss Pancreatic cancer SNP array 17952125 GRIN2B chr12 13605411 14024319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIN2B chr1 21360555 21361161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF4G3 chr12 13605676 14024289 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GRIN2B chr1 213611135 213611235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 213616450 213617340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 13617173 13617820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 13623381 13623424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13628046 13628146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13631742 13631842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13651592 13651682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 213676280 213676380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 213723953 213755096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 13727743 13727999 Gain and loss Pancreatic cancer SNP array 17952125 GRIN2B chr12 13727743 13728050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIN2B chr12 13727743 13728061 Gain and loss Pancreatic cancer SNP array 17952125 GRIN2B chr1 21374149 21374204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF4G3 chr1 21375416 21375932 Gain Autism 1M Ailent CGH whole-genome array 21865298 EIF4G3 chr1 21375416 21375932 Loss Autism 1M Ailent CGH whole-genome array 21865298 EIF4G3 chr1 213793567 213793667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13801568 13801752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRIN2B chr1 213807358 213861770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 213807358 213861770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 213838417 213838512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13850089 14866988 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ATF7IP,GRIN2B,GUCY2C,PLBD1 chr1 213859178 213859264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 213862859 214663361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00538,PROX1,PTPN14,SMYD2 chr1 213862859 214663361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00538,PROX1,PTPN14,SMYD2 chr1 213869127 213869208 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 213869138 213869208 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 213869991 213870082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 213936801 214999400 Copy number Normal ReadDepth: A Parallel R Package 21305028 CENPF,LINC00538,PROX1,PTPN14,SMYD2 chr12 13943591 13944082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRIN2B chr1 213964941 213965035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 13978865 13979056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRIN2B chr1 213992229 214192804 Amplification T-cell lymphomas Array-CGH 22341440 LINC00538,PROX1 chr1 213992229 214192804 Gain and loss Pancreatic cancer SNP array 17952125 LINC00538,PROX1 chr1 214001144 214182688 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LINC00538,PROX1 chr12 14009568 15154673 LOH Normal High-resolution SNP genotyping 21211785 ARHGDIB,ART4,ATF7IP,C12orf60,C12orf69,ERP27,GRIN2B,GUCY2C,H2AFJ,HIST4H4,MGP,PDE6H,PLBD1,WBP11 chr12 1 4034408 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,EFCAB4B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,PARP11,PRMT8,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr1 214054662 214054756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 14070838 14100025 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRIN2B chr1 214097810 214097910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21410367 21410467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF4G3 chr12 14105079 14107970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRIN2B chr12 14113850 14113950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2B chr12 14117741 14118741 Loss Osteosarcoma References 21215367 GRIN2B chr12 14149869 14150199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 21416001 21628000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ECE1,EIF4G3,LOC100506801 chr12 14170058 14170119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 14170081 14170293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 14170081 14170293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 14170463 14170783 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 14170463 14170783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 214173239 214173333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROX1 chr12 14173725 14173842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 14173835 14173882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 14173872 14174041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21417664 21544584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ECE1,EIF4G3 chr1 21417664 21544584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1,EIF4G3 chr1 214178586 214178618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROX1 chr12 14185562 14186562 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 141929 32858701 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr1 214193081 214428879 Gain and loss Pancreatic cancer SNP array 17952125 PROX1 chr1 214193090 214428879 Amplification T-cell lymphomas Array-CGH 22341440 PROX1 chr1 214208602 214208702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROX1 chr1 214219432 214219559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 214235095 214235150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 14245323 14246323 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 14280745 14325521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 214284197 214284291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 14294436 14294541 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 14294436 14294541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 214298101 214298616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 1 4300000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,EFCAB4B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,PARP11,PRMT8,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr1 214304091 214304176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1430428 1474800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ERC1 chr12 14409883 14542964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP chr12 14409883 14542964 Gain and loss Pancreatic cancer SNP array 17952125 ATF7IP chr12 14409883 14542964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP chr1 214412144 214412370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 14420539 14420639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 14426842 14426936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 214441600 214441791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 214486052 214486137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD2 chr1 214500000 224100000 Deletion Acute myeloid leukemia Array-based CGH 17268525 AIDA,AURKAPS1,BPNT1,BROX,C1orf115,C1orf140,C1orf65,CAPN2,CAPN8,CENPF,DISP1,DUSP10,EPRS,ESRRG,FAM177B,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,PTPN14,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SMYD2,SNORA36B,SPATA17,SUSD4,TAF1A,TGFB2,TLR5,TP53BP2,USH2A chr1 214500000 224100000 Gain Lung cancer array CGH 16740712 AIDA,AURKAPS1,BPNT1,BROX,C1orf115,C1orf140,C1orf65,CAPN2,CAPN8,CENPF,DISP1,DUSP10,EPRS,ESRRG,FAM177B,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,PTPN14,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SMYD2,SNORA36B,SPATA17,SUSD4,TAF1A,TGFB2,TLR5,TP53BP2,USH2A chr1 214500000 224100000 Gain Renal cell carcinoma MCG Whole Genome Array-4500 18765545 AIDA,AURKAPS1,BPNT1,BROX,C1orf115,C1orf140,C1orf65,CAPN2,CAPN8,CENPF,DISP1,DUSP10,EPRS,ESRRG,FAM177B,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,PTPN14,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SMYD2,SNORA36B,SPATA17,SUSD4,TAF1A,TGFB2,TLR5,TP53BP2,USH2A chr1 214500000 224100000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AIDA,AURKAPS1,BPNT1,BROX,C1orf115,C1orf140,C1orf65,CAPN2,CAPN8,CENPF,DISP1,DUSP10,EPRS,ESRRG,FAM177B,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,PTPN14,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SMYD2,SNORA36B,SPATA17,SUSD4,TAF1A,TGFB2,TLR5,TP53BP2,USH2A chr1 214500000 249250621 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AIDA,AKT3,ARF1,ARID4B,ARV1,AURKAPS1,B3GALNT2,BPNT1,BROX,C1orf100,C1orf101,C1orf115,C1orf131,C1orf140,C1orf145,C1orf198,C1orf229,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CENPF,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DISP1,DNAH14,DUSP10,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,EXO1,EXOC8,FAM177B,FAM89A,FBXO28,FH,FMN2,GALNT2,GCSAML,GCSAML-AS1,GGPS1,GJC2,GNG4,GNPAT,GPATCH2,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HNRNPU,HNRNPU-AS1,IARS2,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KCNK2,KCTD3,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00210,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC643723,LOC728463,LOC731275,LYPD8,LYPLAL1,LYST,MAP1LC3C,MARC1,MARC2,MARK1,MIA3,MIR1182,MIR1537,MIR194-1,MIR215,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3916,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR664,MIXL1,MRPL55,MTR,NID1,NLRP3,NTPCR,NUP133,NVL,OBSCN,OPN3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PARP1,PCNXL2,PGBD2,PGBD5,PLD5,PRSS38,PSEN2,PTPN14,PYCR2,RAB3GAP2,RAB4A,RBM34,RGS7,RHOU,RNF187,RNU5F-1,RPS7P5,RRP15,RYR2,SCCPDH,SDCCAG8,SDE2,SH3BP5L,SIPA1L2,SLC30A10,SLC35F3,SMYD2,SMYD3,SNAP47,SNORA14B,SNORA36B,SNRPD2P2,SPATA17,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TBCE,TFB2M,TGFB2,TLR5,TMEM63A,TOMM20,TP53BP2,TRIM11,TRIM17,TRIM58,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,USH2A,VN1R5,WDR26,WDR64,WNT3A,WNT9A,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr12 14508480 14508580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1452730 1452830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC1 chr12 14547863 14612058 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ATF7IP chr12 14547864 14612058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP chr12 14547864 14612058 Gain and loss Pancreatic cancer SNP array 17952125 ATF7IP chr12 14547864 14612058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP chr12 14550950 15131198 LOH Normal High-resolution SNP genotyping 21211785 ARHGDIB,ART4,ATF7IP,C12orf60,C12orf69,ERP27,GUCY2C,H2AFJ,HIST4H4,MGP,PDE6H,PLBD1,WBP11 chr1 2145530 2146321 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 214556377 214588255 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN14 chr1 214558846 214593865 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN14 chr1 214559027 214585973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN14 chr12 14564480 14592575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATF7IP chr12 14564657 14564784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATF7IP chr1 214567282 219203295 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CENPF,ESRRG,GPATCH2,KCNK2,KCTD3,LINC00210,LOC728463,PTPN14,RRP15,SPATA17,TGFB2,USH2A chr1 214569228 214592234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN14 chr1 214569523 214603936 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN14 chr1 214574308 214574408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPN14 chr1 214585732 214592324 Gain Normal 244K array 17666407 PTPN14 chr1 214592280 214592324 Loss Normal 244K array 17666407 PTPN14 chr12 14597858 14598171 Gain and loss Pancreatic cancer SNP array 17952125 ATF7IP chr12 14597870 14598171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP chr12 14597933 14598171 Gain and loss Pancreatic cancer SNP array 17952125 ATF7IP chr12 14613230 15153075 LOH Normal High-resolution SNP genotyping 21211785 ARHGDIB,ART4,ATF7IP,C12orf60,C12orf69,ERP27,GUCY2C,H2AFJ,HIST4H4,MGP,PDE6H,PLBD1,WBP11 chr12 14656842 14740696 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PLBD1 chr12 14656843 14740696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLBD1 chr12 14656843 14740696 Gain and loss Pancreatic cancer SNP array 17952125 PLBD1 chr12 14656843 14740696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLBD1 chr12 14666481 14783164 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GUCY2C,PLBD1 chr12 1468484 1504429 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ERC1 chr1 214691532 214691694 Gain and loss Pancreatic cancer SNP array 17952125 PTPN14 chr1 214691532 214691696 Gain and loss Pancreatic cancer SNP array 17952125 PTPN14 chr1 21469792 21470139 Gain and loss Pancreatic cancer SNP array 17952125 EIF4G3 chr12 1471501 1509500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1 chr1 214743211 215377720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CENPF,KCNK2 chr1 214743211 215377720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CENPF,KCNK2 chr12 14746099 17565954 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGDIB,ART4,C12orf60,C12orf69,DERA,EPS8,ERP27,GUCY2C,H2AFJ,HIST4H4,LMO3,MGP,MGST1,PDE6H,PTPRO,RERG,SKP1P2,SLC15A5,STRAP,WBP11 chr12 14800000 19900000 Loss Hepatocellular carcinoma Array CGH 16750200 AEBP2,ARHGDIB,ART4,C12orf60,C12orf69,CAPZA3,DERA,EPS8,ERP27,GUCY2C,H2AFJ,HIST4H4,LMO3,MGP,MGST1,MIR3974,PDE6H,PIK3C2G,PLCZ1,PLEKHA5,PTPRO,RERG,RERGL,SKP1P2,SLC15A5,STRAP,WBP11 chr12 14800000 20000000 Deletion Acute myeloid leukemia Array-based CGH 17268525 AEBP2,ARHGDIB,ART4,C12orf60,C12orf69,CAPZA3,DERA,EPS8,ERP27,GUCY2C,H2AFJ,HIST4H4,LMO3,MGP,MGST1,MIR3974,PDE6H,PIK3C2G,PLCZ1,PLEKHA5,PTPRO,RERG,RERGL,SKP1P2,SLC15A5,STRAP,WBP11 chr12 14800000 20000000 Loss Acute myeloid leukemia Array CGH 18379011 AEBP2,ARHGDIB,ART4,C12orf60,C12orf69,CAPZA3,DERA,EPS8,ERP27,GUCY2C,H2AFJ,HIST4H4,LMO3,MGP,MGST1,MIR3974,PDE6H,PIK3C2G,PLCZ1,PLEKHA5,PTPRO,RERG,RERGL,SKP1P2,SLC15A5,STRAP,WBP11 chr12 14800000 26500000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ABCC9,AEBP2,ARHGDIB,ART4,BCAT1,BHLHE41,C12orf39,C12orf60,C12orf69,C12orf77,CAPZA3,CASC1,CMAS,DERA,EPS8,ERP27,ETNK1,GOLT1B,GUCY2C,GYS2,H2AFJ,HIST4H4,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LMO3,LOC100506393,LOC100506451,LRMP,LYRM5,MGP,MGST1,MIR3974,MIR4302,MIR920,PDE3A,PDE6H,PIK3C2G,PLCZ1,PLEKHA5,PTPRO,PYROXD1,RASSF8,RECQL,RERG,RERGL,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STRAP,WBP11 chr1 2148079 2158376 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 14812201 14815332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14812201 14815332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr1 21481490 21687720 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ECE1,EIF4G3,LOC100506801 chr1 21481490 21687720 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ECE1,EIF4G3,LOC100506801 chr12 14814920 14815332 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 GUCY2C chr12 14814974 14815285 Gain and loss Pancreatic cancer SNP array 17952125 GUCY2C chr12 14818536 14822203 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 GUCY2C chr12 14818616 14819612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14818616 14819612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14818672 14819612 Gain and loss Pancreatic cancer SNP array 17952125 GUCY2C chr12 14830678 14847668 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 GUCY2C chr12 14830681 14847668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14830681 14847668 Gain and loss Pancreatic cancer SNP array 17952125 GUCY2C chr12 14830681 14847668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14836654 14836775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GUCY2C chr12 1484246 1705254 Copy number Lung cancer paired-end sequencing 18438408 ERC1,FBXL14,LOC100292680 chr1 214847047 214893311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 214847047 214893312 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr12 14847772 14868058 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GUCY2C chr12 14847773 14868053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GUCY2C chr12 14847773 14868053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14847773 14868053 Gain and loss Pancreatic cancer SNP array 17952125 GUCY2C chr12 14847773 14868053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14848850 14858383 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GUCY2C chr12 14848851 14858383 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GUCY2C chr12 14848851 14858383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14848851 14858383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2C chr12 14850181 14850881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 14852715 14852815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21486020 21486091 Gain and loss Pancreatic cancer SNP array 17952125 EIF4G3 chr1 214869544 214904826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 14873290 14887689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 14873290 14887689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 14873512 14887680 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 14873514 14887413 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 14874069 15211259 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ARHGDIB,ART4,C12orf60,C12orf69,ERP27,H2AFJ,HIST4H4,MGP,PDE6H,WBP11 chr12 14879722 15793249 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGDIB,ART4,C12orf60,C12orf69,EPS8,ERP27,H2AFJ,HIST4H4,MGP,PDE6H,PTPRO,RERG,WBP11 chr12 14880427 14881089 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 214908263 215003368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 214910801 214911008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 14925119 14930025 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 H2AFJ chr12 14925119 14930025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 H2AFJ chr12 14925119 14930025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H2AFJ chr12 14926094 14930095 Gain and loss Pancreatic cancer SNP array 17952125 H2AFJ chr1 214942844 215972442 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KCNK2,KCTD3,USH2A chr12 14958241 14982750 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ART4,C12orf60,C12orf69 chr12 14958241 14982750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ART4,C12orf60,C12orf69 chr12 14958241 14982750 Gain and loss Pancreatic cancer SNP array 17952125 ART4,C12orf60,C12orf69 chr12 14958241 14982750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ART4,C12orf60,C12orf69 chr12 14961454 14979195 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 C12orf60,C12orf69 chr12 14980000 39850000 Gain Breast cancer aCGH 21509527 ABCC9,AEBP2,ALG10,ALG10B,AMN1,ARHGDIB,ARNTL2,ART4,ASUN,BCAT1,BHLHE41,BICD1,C12orf39,C12orf70,C12orf71,C12orf77,CAPRIN2,CAPZA3,CASC1,CCDC91,CMAS,CPNE8,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DERA,DNM1L,EPS8,ERGIC2,ERP27,ETNK1,FAM60A,FAR2,FGD4,FGFR1OP2,FLJ13224,GOLT1B,GYS2,H3F3C,IAPP,IFLTD1,IPO8,ITPR2,KCNJ8,KIAA0528,KIAA1551,KIF21A,KLHDC5,KRAS,LDHB,LINC00477,LMO3,LOC100287314,LOC100506393,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,METTL20,MGP,MGST1,MIR3974,MIR4302,MIR920,MRPS35,OVCH1,PDE3A,PDE6H,PIK3C2G,PKP2,PLCZ1,PLEKHA5,PPFIBP1,PTHLH,PTPRO,PYROXD1,RASSF8,RECQL,REP15,RERG,RERGL,RNU6-78,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,STRAP,SYT10,TM7SF3,TMTC1,TSPAN11,YARS2 chr12 14986217 15005829 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ART4 chr12 14986217 15005829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ART4 chr12 14986217 15005829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ART4 chr12 14986232 15005870 Gain and loss Pancreatic cancer SNP array 17952125 ART4 chr12 14986429 15060729 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ART4,MGP chr1 214998406 214998506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 214999401 217833000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ESRRG,GPATCH2,KCNK2,KCTD3,SPATA17,USH2A chr1 2149994 2229316 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SKI chr1 2149994 2229316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SKI chr1 2149994 2229316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SKI chr12 150000 2210000 Gain Breast cancer aCGH 21509527 ADIPOR2,B4GALNT3,CACNA1C,CACNA2D4,CCDC77,DCP1B,ERC1,FBXL14,IQSEC3,KDM5A,LOC100271702,LOC100292680,LOC574538,LRTM2,MIR3649,NINJ2,RAD52,SLC6A12,SLC6A13,WNK1,WNT5B chr1 21500053 21502039 Gain and loss Pancreatic cancer SNP array 17952125 EIF4G3 chr12 15017245 15026066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 15017245 15026066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 15017245 15026066 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 15017245 15026066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 15032913 15033001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 15036168 29977743 Deletion Autism Array CGH 22102821 ABCC9,AEBP2,ARHGDIB,ARNTL2,ASUN,BCAT1,BHLHE41,C12orf39,C12orf70,C12orf71,C12orf77,CAPZA3,CASC1,CCDC91,CMAS,DERA,EPS8,ERGIC2,ERP27,ETNK1,FAR2,FGFR1OP2,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KLHDC5,KRAS,LDHB,LINC00477,LMO3,LOC100506393,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,MGP,MGST1,MIR3974,MIR4302,MIR920,MRPS35,OVCH1,PDE3A,PDE6H,PIK3C2G,PLCZ1,PLEKHA5,PPFIBP1,PTHLH,PTPRO,PYROXD1,RASSF8,RECQL,REP15,RERG,RERGL,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,STRAP,TM7SF3,TMTC1 chr1 215041305 215074651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 215086719 215086819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1509501 1511500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1 chr12 1 51029343 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-761K arrays 21546498 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ABCD2,ACRBP,ACSM4,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,ALG10B,AMIGO2,AMN1,ANO2,ANO6,ANP32D,APOBEC1,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGDIB,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf40,C12orf5,C12orf54,C12orf57,C12orf60,C12orf68,C12orf69,C12orf70,C12orf71,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CAPRIN2,CAPZA3,CASC1,CCDC65,CCDC77,CCDC91,CCND2,CCNT1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CERS5,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,CNTN1,COL2A1,COPS7A,COX14,CPNE8,CREBL2,CSDA,DBX2,DCP1B,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DENND5B,DENND5B-AS1,DERA,DHH,DIP2B,DNAJC22,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENDOU,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAIM2,FAM138D,FAM186A,FAM186B,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP11,FKBP4,FLJ13224,FMNL3,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPD1,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HDAC7,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,IRAK4,ITFG2,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNH3,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KIF21A,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LALBA,LARP4,LDHB,LEPREL2,LIMA1,LINC00477,LINC00612,LMBR1L,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC255411,LOC283332,LOC283440,LOC338817,LOC374443,LOC389634,LOC400027,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRRK2,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MCRS1,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR1291,MIR1293,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR4698,MIR4701,MIR613,MIR614,MIR920,MLF2,MLL2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NCKAP5L,NDUFA9,NECAP1,NELL2,NINJ2,NOP2,NRIP2,NTF3,OLR1,OR10AD1,OR8S1,OVCH1,PARP11,PCED1B,PCED1B-AS1,PDE3A,PDE6H,PDZRN4,PEX5,PFKM,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,POU5F1P3,PPFIBP1,PPHLN1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PUS7L,PYROXD1,PZP,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAPGEF3,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHEBL1,RHNO1,RIMKLB,RND1,RNU6-19,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL13P5,SCAF11,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SENP1,SKP1P2,SLC15A5,SLC2A13,SLC2A14,SLC2A3,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMARCD1,SNORA2A,SNORA2B,SNORA34,SOX5,SPATS2,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMBIM6,TMEM106C,TMEM117,TMEM52B,TMTC1,TNFRSF1A,TPI1,TROAP,TSPAN11,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,USP5,VAMP1,VDR,VWF,WBP11,WNK1,WNT1,WNT10B,WNT5B,YAF2,YARS2,ZCRB1,ZNF384,ZNF641,ZNF705A chr1 215103427 215103636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 15104472 15104622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGDIB chr12 1511501 1572500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1 chr1 215117678 215117778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21511936 21556698 Gain and loss Pancreatic cancer SNP array 17952125 ECE1 chr12 15151983 15265571 Copy number Lung cancer - 20668451 RERG chr12 15151983 15265571 Gain or loss Breast cancer - 20668451 RERG chr12 15151983 15265571 Gain or loss Cancer - 20668451 RERG chr12 15151983 15265571 Gain or loss Lung cancer - 20668451 RERG chr12 15151983 15265571 Gain or loss Ovarian cancer - 20668451 RERG chr12 15151983 15265571 Gain or loss Pancreas cancer - 20668451 RERG chr12 15151983 15265571 Gain or loss Prostate cancer - 20668451 RERG chr12 15151985 15265571 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RERG chr12 15151985 15265571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RERG chr12 15151985 15265571 Gain and loss Pancreatic cancer SNP array 17952125 RERG chr12 15151985 15265571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERG chr12 15152482 15785902 LOH Normal High-resolution SNP genotyping 21211785 EPS8,PTPRO,RERG chr1 215162903 215194699 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNK2 chr12 15210829 16067625 LOH Normal High-resolution SNP genotyping 21211785 DERA,EPS8,PTPRO,RERG,STRAP chr12 15211958 15244720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 15213325 15503129 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 PTPRO,RERG chr12 15226319 16002637 LOH Normal High-resolution SNP genotyping 21211785 EPS8,PTPRO,RERG chr12 15226319 16407536 LOH Normal High-resolution SNP genotyping 21211785 DERA,EPS8,PTPRO,RERG,SLC15A5,STRAP chr12 15253027 15281147 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RERG chr12 152534 16164790 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ART4,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETV6,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100292680,LOC100499405,LOC100506314,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MGP,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE6H,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PZP,RAD51AP1,RAD52,RBP5,RERG,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 152534 525774777 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHFR,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX51,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EP400,EP400NL,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBRSL1,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GALNT9,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRCOL1,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOC4L,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PGAM5,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS1,PUS7L,PWP1,PXMP2,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF384,ZNF385A,ZNF605,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740,ZNF84 chr12 152599 12181265 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,ATN1,B4GALNT3,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CSDA,DCP1B,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,ETV6,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100292680,LOC100499405,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 152599 12947766 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ATN1,B4GALNT3,BCL2L14,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,ETV6,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,GPR19,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100292680,LOC100499405,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR613,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RNU6-19,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 15263202 15263302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RERG chr12 1 5300000 Gain Ovarian cancer Affymetrix 20844748 ADIPOR2,AKAP3,B4GALNT3,C12orf4,C12orf5,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,DCP1B,DYRK4,EFCAB4B,ERC1,FAM138D,FBXL14,FGF23,FGF6,FKBP4,FOXM1,GALNT8,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NDUFA9,NINJ2,NRIP2,PARP11,PRMT8,RAD51AP1,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr1 2153145 2157186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 21531461 21531873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 15323654 15398874 Gain Normal 244K array 17666407 RERG chr1 215336582 215336646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNK2 chr12 15354749 15354899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RERG chr1 215356748 215360953 Loss Normal Birdsuite, version 1.5.2 22087296 KCNK2 chr12 15366754 15641602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PTPRO,RERG chr12 15366754 15641602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRO,RERG chr12 15366754 15641602 Gain and loss Pancreatic cancer SNP array 17952125 PTPRO,RERG chr12 15366754 15641602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRO,RERG chr1 215376351 226223513 Loss Developmental delay affymetrix genechip 500K/SNP 6.7 array 21147756 AIDA,AURKAPS1,BPNT1,BROX,C1orf115,C1orf140,C1orf65,CAPN2,CAPN8,CNIH3,CNIH4,DEGS1,DISP1,DNAH14,DUSP10,ENAH,EPHX1,EPRS,ESRRG,FAM177B,FBXO28,GPATCH2,HHIPL2,HLX,IARS2,KCNK2,KCTD3,LBR,LEFTY1,LEFTY2,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR320B2,MIR4742,MIR664,NVL,PYCR2,RAB3GAP2,RNU5F-1,RRP15,SDE2,SLC30A10,SNORA36B,SPATA17,SRP9,SUSD4,TAF1A,TGFB2,TLR5,TMEM63A,TP53BP2,USH2A,WDR26 chr1 215384703 215384803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNK2 chr12 15425617 15477411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRO chr12 15437698 15466369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 1545420 1573592 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ERC1 chr12 1545421 1573592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERC1 chr12 1545421 1573592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERC1 chr1 215459118 215459218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 15459186 15464910 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 15459751 15464888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 1546175 1573493 Gain and loss Pancreatic cancer SNP array 17952125 ERC1 chr1 215471002 215471314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 15483728 15484605 Gain and loss Pancreatic cancer SNP array 17952125 PTPRO chr1 215498799 215498899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 15505312 16146881 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 DERA,EPS8,PTPRO,STRAP chr12 15518616 15518716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRO chr12 15519707 15519807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRO chr1 215522601 215526900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 215524591 215525018 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 15529887 15529987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRO chr12 15540000 19170000 Loss Acute lymphoblastic leukemia - 21339820 CAPZA3,DERA,EPS8,LMO3,MGST1,MIR3974,PIK3C2G,PLCZ1,PTPRO,RERGL,SKP1P2,SLC15A5,STRAP chr12 1554083 1626639 Gain or loss Breast cancer - 20668451 ERC1,LOC100292680 chr12 1554083 1626639 Gain or loss Cancer - 20668451 ERC1,LOC100292680 chr12 1554083 1626639 Gain or loss Lung cancer - 20668451 ERC1,LOC100292680 chr12 1554083 1626639 Gain or loss Ovarian cancer - 20668451 ERC1,LOC100292680 chr12 1554083 1626639 Gain or loss Pancreas cancer - 20668451 ERC1,LOC100292680 chr12 1554083 1626639 Gain or loss Prostate cancer - 20668451 ERC1,LOC100292680 chr1 215544775 215544872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 215547354 215547436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 215572704 215572804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 215599015 215599115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1 56300000 Gain Seminomas CGH, Comparative expressed sequence hybridisation 18059402 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,ABCC9,ABCD2,ACRBP,ACSM4,ACVR1B,ACVRL1,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,ALG10B,AMHR2,AMIGO2,AMN1,ANKRD33,ANO2,ANO6,ANP32D,APOBEC1,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGDIB,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP5G2,B4GALNT3,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf36,C12orf39,C12orf4,C12orf40,C12orf44,C12orf5,C12orf54,C12orf57,C12orf60,C12orf68,C12orf69,C12orf70,C12orf71,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAPRIN2,CAPZA3,CASC1,CBX5,CCDC65,CCDC77,CCDC91,CCND2,CCNT1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDKN1B,CELA1,CERS5,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,CNTN1,COL2A1,COPS7A,COPZ1,COX14,CPNE8,CREBL2,CSAD,CSDA,CSRNP2,DAZAP2,DBX2,DCD,DCP1B,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DENND5B,DENND5B-AS1,DERA,DHH,DIP2B,DNAJC14,DNAJC22,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EIF4B,EMG1,EMP1,ENDOU,ENO2,EPS8,ERC1,ERGIC2,ERP27,ESPL1,ETNK1,ETV6,FAIM2,FAM138D,FAM186A,FAM186B,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FMNL3,FOXJ2,FOXM1,GABARAPL1,GALNT6,GALNT8,GAPDH,GDF11,GDF3,GLYCAM1,GNB3,GOLT1B,GPD1,GPR162,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GSG1,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HDAC7,HEBP1,HIGD1C,HIST4H4,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HTR7P1,IAPP,IFFO1,IFLTD1,IGFBP6,ING4,IPO8,IQSEC3,IRAK4,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNH3,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KIF21A,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LAG3,LALBA,LARP4,LDHB,LEPREL2,LETMD1,LIMA1,LINC00477,LINC00592,LINC00612,LMBR1L,LMO3,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC100652999,LOC101055625,LOC255411,LOC283332,LOC283335,LOC283403,LOC283440,LOC338817,LOC374443,LOC389634,LOC400027,LOC400043,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRRK2,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MAP3K12,MCRS1,MED21,METTL20,METTL7A,METTL7B,MFAP5,MFSD5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR1291,MIR1293,MIR141,MIR148B,MIR196A2,MIR200C,MIR3198-2,MIR3649,MIR3974,MIR4302,MIR4698,MIR4701,MIR613,MIR614,MIR615,MIR920,MLF2,MLL2,MMP19,MRPL51,MRPS35,MUCL1,NANOG,NANOGNB,NCAPD2,NCKAP1L,NCKAP5L,NDUFA9,NECAP1,NELL2,NEUROD4,NFE2,NINJ2,NOP2,NPFF,NR4A1,NRIP2,NTF3,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OVCH1,PARP11,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEX5,PFDN5,PFKM,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,POU5F1P3,POU6F1,PPFIBP1,PPHLN1,PPP1R1A,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PUS7L,PYROXD1,PZP,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAPGEF3,RARG,RASSF8,RBP5,RDH5,RECQL,REP15,RERG,RERGL,RHEBL1,RHNO1,RIMKLB,RND1,RNU6-19,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL13P5,SARNP,SCAF11,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SENP1,SKP1P2,SLC11A2,SLC15A5,SLC2A13,SLC2A14,SLC2A3,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SOAT2,SOX5,SP1,SP7,SPATS2,SPRYD3,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TENC1,TESPA1,TFCP2,TM7SF3,TMBIM6,TMEM106C,TMEM117,TMEM198B,TMEM52B,TMPRSS12,TMTC1,TNFRSF1A,TPI1,TROAP,TSPAN11,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,USP5,VAMP1,VDR,VWF,WBP11,WIBG,WNK1,WNT1,WNT10B,WNT5B,YAF2,YARS2,ZCRB1,ZNF384,ZNF385A,ZNF641,ZNF705A,ZNF740 chr12 15638006 15638078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRO chr12 15664341 15833601 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 EPS8,PTPRO chr12 15664343 15833601 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPS8,PTPRO chr12 15664343 15833601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPS8,PTPRO chr12 15664343 15833601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS8,PTPRO chr12 15664365 15833589 Gain and loss Pancreatic cancer SNP array 17952125 EPS8,PTPRO chr12 15666973 15667063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRO chr1 215670457 215871032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCTD3,USH2A chr1 215670457 215871032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCTD3,USH2A chr1 215681472 215681555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 15687169 15687269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRO chr12 1570852 1571348 Copy number Ewing's sarcoma Array CGH 19144156 ERC1 chr12 15715908 15716011 Gain and loss Pancreatic cancer SNP array 17952125 PTPRO chr12 15715908 15716011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRO chr12 15715909 15716011 Gain and loss Pancreatic cancer SNP array 17952125 PTPRO chr12 1572501 1573500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1 chr12 1573501 1605000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1 chr1 215735616 215773553 Gain and loss Pancreatic cancer SNP array 17952125 KCTD3 chr1 215761436 215806194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCTD3,USH2A chr1 215795707 215795807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21581175 21650208 Gain and loss Pancreatic cancer SNP array 17952125 ECE1,LOC100506801 chr1 215820698 215821000 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USH2A chr1 215848737 215849264 Copy number Ewing's sarcoma Array CGH 19144156 USH2A chr12 15861352 15869981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPS8 chr1 215871289 216107107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USH2A chr1 215871289 216107107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USH2A chr1 21589000 31189000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 AHDC1,AIM1L,ALPL,ARID1A,ASAP3,ATPIF1,AUNIP,C1QA,C1QB,C1QC,C1orf172,C1orf213,C1orf63,CATSPER4,CD164L2,CD52,CDC42,CELA3A,CELA3B,CEP85,CLIC4,CNKSR1,CNR2,DHDDS,DNAJC8,E2F2,ECE1,EPB41,EPHA8,EPHB2,EXTL1,EYA3,FAM110D,FAM46B,FAM54B,FAM76A,FCN3,FGR,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HSPG2,HTR1D,ID3,IFI6,IL22RA1,IL28RA,KDM1A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506801,LOC100506963,LOC284632,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MATN1,MDS2,MECR,MED18,MIR1976,MIR3115,MIR378F,MIR3917,MIR4253,MIR4684,MYOM3,NBPF3,NCMAP,NIPAL3,NR0B2,NUDC,OPRD1,PAFAH2,PAQR7,PDIK1L,PHACTR4,PIGV,PITHD1,PNRC2,PPP1R8,PTAFR,PTPRU,RAB42,RAP1GAP,RCAN3,RCAN3AS,RCC1,RHCE,RHD,RNU11,RPA2,RPL11,RPS6KA1,RUNX3,SCARNA1,SEPN1,SESN2,SFN,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRRM1,SRSF10,SRSF4,STMN1,STPG1,STX12,SYF2,SYTL1,TAF12,TCEA3,TCEB3,THEMIS2,TMEM200B,TMEM222,TMEM50A,TMEM57,TRIM63,TRNAU1AP,TRNP1,UBXN11,USP48,WASF2,WDTC1,WNT4,XKR8,YTHDF2,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr12 15909935 15912928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPS8 chr12 159235 175985 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 15926554 15947677 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 EPS8 chr12 15926600 15947670 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPS8 chr12 15926608 15947670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPS8 chr12 15926608 15947670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS8 chr12 15926611 15947670 Gain and loss Pancreatic cancer SNP array 17952125 EPS8 chr12 15955373 16081476 Gain and loss Pancreatic cancer SNP array 17952125 DERA,STRAP chr12 15955452 16081582 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 DERA,STRAP chr12 1596483 1626640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERC1,LOC100292680 chr12 1596483 1626640 Gain and loss Pancreatic cancer SNP array 17952125 ERC1,LOC100292680 chr12 1596483 1626640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERC1,LOC100292680 chr1 21597067 21597442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1 chr1 215979330 215979409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH2A chr12 15983211 15983311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 215984135 215984447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USH2A chr12 16000968 16081581 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DERA,STRAP chr12 16000968 16081581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DERA,STRAP chr12 16000968 16081581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DERA,STRAP chr1 216005969 216006069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH2A chr12 1600638 1608184 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ERC1 chr1 216031639 216421955 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 USH2A chr12 16046949 16047949 Gain Osteosarcoma References 21215367 STRAP chr12 16049923 16050923 Loss Osteosarcoma References 21215367 STRAP chr12 1605001 1645250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1,LOC100292680 chr12 16051037 16052037 Gain Osteosarcoma References 21215367 STRAP chr12 16051062 16052062 Loss Osteosarcoma References 21215367 STRAP chr12 16054806 16055806 Gain Osteosarcoma References 21215367 STRAP chr12 1608672 1626639 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LOC100292680 chr1 216090368 216090598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USH2A chr1 21610540 21612373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1 chr12 16116097 16543428 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DERA,MGST1,SLC15A5 chr12 16116097 17688908 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DERA,LMO3,MGST1,SKP1P2,SLC15A5 chr12 16132922 17981926 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 DERA,LMO3,MGST1,MIR3974,SKP1P2,SLC15A5 chr1 21613301 21613372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1 chr12 16141980 16149714 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 DERA chr12 16147238 16345646 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 DERA,SLC15A5 chr1 216148000 216177160 Duplication Non-syndromic sensorineural hearing loss References 19212409 USH2A chr1 216149287 216149520 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USH2A chr12 16156359 16337645 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DERA chr1 216171343 216174806 Gain and loss Pancreatic cancer SNP array 17952125 USH2A chr12 16174683 16174774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DERA chr12 16198059 16198640 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 216225766 216225826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH2A chr12 16233869 16316967 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 16233869 16316967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 16233869 16316967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 21623705 21627047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1,LOC100506801 chr1 216247201 216257200 Deletion Glioma mate-paired sequence 20126413 USH2A chr12 162489 168229 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 162490 168226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 216249112 216255217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USH2A chr12 162495 166960 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 21627382 21628617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1 chr1 21628001 21630750 Copy number Normal ReadDepth: A Parallel R Package 21305028 ECE1 chr12 16286 1015899 Substitutions and indels small cell lung cancer array-CGH 20016488 B4GALNT3,CCDC77,FAM138D,IQSEC3,KDM5A,LOC100288778,LOC574538,NINJ2,SLC6A12,SLC6A13,WNK1 chr1 216299388 216299427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH2A chr1 216302655 221524000 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 AURKAPS1,BPNT1,C1orf115,C1orf140,EPRS,ESRRG,GPATCH2,HLX,IARS2,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SNORA36B,SPATA17,TGFB2,USH2A chr1 21630751 21785500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ECE1,NBPF3 chr12 16309501 16314500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 216310301 216315100 Deletion Glioma mate-paired sequence 20126413 USH2A chr12 16311391 16312549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 16311392 16312589 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 216312252 216313108 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USH2A chr1 216323526 216323612 Gain and loss Pancreatic cancer SNP array 17952125 USH2A chr1 21633398 21636638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1 chr1 216366926 216367026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH2A chr1 216369760 216369917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USH2A chr12 16391343 16408602 Gain and loss Pancreatic cancer SNP array 17952125 SLC15A5 chr12 16391343 16408610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC15A5 chr12 16391343 16408610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC15A5 chr12 16391343 16408631 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC15A5 chr1 21639217 21683980 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ECE1 chr1 21639217 21684085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ECE1 chr1 21639217 21684085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1 chr12 16430865 16431865 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 16433142 16434142 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 16436484 16437484 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 16443476 16444229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 1645251 1772500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBXL14,MIR3649,WNT5B chr12 16453456 16453532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 16458421 16474825 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr12 16463017 16464017 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 216464404 216464504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH2A chr12 16466398 16467398 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 216470892 216471095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USH2A chr1 216475253 216489910 Gain and loss Pancreatic cancer SNP array 17952125 USH2A chr12 16484476 17687995 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 LMO3,MGST1,SKP1P2 chr1 216484537 216488212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USH2A chr1 216484875 216489763 Gain or loss Normal Birdsuite, version 1.5.2 22087296 USH2A chr1 216516870 220352755 LOH Normal High-resolution SNP genotyping 21211785 BPNT1,EPRS,ESRRG,GPATCH2,IARS2,LINC00210,LOC643723,LOC728463,LYPLAL1,MIR194-1,MIR215,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SPATA17,TGFB2,USH2A chr1 216516870 221785535 LOH Normal High-resolution SNP genotyping 21211785 AURKAPS1,BPNT1,C1orf115,C1orf140,EPRS,ESRRG,GPATCH2,HLX,IARS2,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SNORA36B,SPATA17,TGFB2,USH2A chr1 21651901 21741105 Gain and loss Pancreatic cancer SNP array 17952125 ECE1 chr1 216524426 216524602 Gain and loss Pancreatic cancer SNP array 17952125 USH2A chr1 216525252 216577948 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 USH2A chr1 216525252 216577948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USH2A chr1 216525252 216577948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USH2A chr1 216530543 216608191 Gain and loss Pancreatic cancer SNP array 17952125 USH2A chr1 216541188 216541288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH2A chr1 216541227 216541937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USH2A chr1 216545106 216545206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USH2A chr1 216549249 216549351 Gain and loss Pancreatic cancer SNP array 17952125 USH2A chr12 16554245 16554345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 16557598 16558871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 16557658 16558856 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 216577477 218197078 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ESRRG,GPATCH2,LINC00210,SPATA17,USH2A chr1 216578506 216578721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USH2A chr1 216586490 216681593 Gain or loss Breast cancer - 20668451 ESRRG,USH2A chr1 216586490 216681593 Gain or loss Cancer - 20668451 ESRRG,USH2A chr1 216586490 216681593 Gain or loss Lung cancer - 20668451 ESRRG,USH2A chr1 216586490 216681593 Gain or loss Ovarian cancer - 20668451 ESRRG,USH2A chr1 216586490 216681593 Gain or loss Pancreas cancer - 20668451 ESRRG,USH2A chr1 216586490 216681593 Gain or loss Prostate cancer - 20668451 ESRRG,USH2A chr1 216586491 216681596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESRRG,USH2A chr1 216586491 216681596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRG,USH2A chr1 21658742 21659165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECE1 chr1 21659006 21659277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ECE1 chr12 16592574 16652291 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 16592574 16652291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 16592574 16652291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 16592574 16652291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 21660317 21660380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ECE1 chr12 16603247 16604247 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 216603264 216638589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 21660333 21660396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ECE1 chr1 216619472 216651579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 16626545 16626645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 216629257 216789404 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ESRRG chr1 216655850 216709771 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr12 16669795 16669895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 216679590 216679699 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr1 216679894 216679978 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr1 216689809 216689909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 216696678 216696741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 216698901 216699001 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr12 1670408 1768105 Gain and loss Pancreatic cancer SNP array 17952125 FBXL14,WNT5B chr12 1670507 1768106 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 FBXL14,WNT5B chr12 1670507 1768106 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 FBXL14,WNT5B chr12 1670508 1768105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL14,WNT5B chr12 1670508 1768105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL14,WNT5B chr1 216710031 216834167 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr1 2167120 2167220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SKI chr12 16728270 16728370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMO3 chr1 216758918 216759018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 216761851 216761994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRG chr1 216762283 216762413 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr12 16774572 16775381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 216781656 216781864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRG chr1 216786037 216830626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ESRRG chr1 216800733 216800833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr12 16804881 16849488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 216828441 216829650 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr12 16830255 16830355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 216852537 216852856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ESRRG chr1 216878584 216879087 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr12 169001 217000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQSEC3 chr12 16914612 16914707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1693708 1694890 Gain and loss Pancreatic cancer SNP array 17952125 FBXL14 chr12 169513 193068 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IQSEC3 chr12 169513 193068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQSEC3 chr12 169513 193950 Gain and loss Pancreatic cancer SNP array 17952125 IQSEC3 chr12 16957834 16957904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 17015312 17688908 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SKP1P2 chr1 217024667 217024866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 217024868 217025053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 217025385 217025485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 21708445 21777492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBPF3 chr1 21708445 21777492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF3 chr1 217089963 217225667 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr12 17115599 17115706 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 17115599 17115706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 217121565 217122615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRG chr1 217133476 217133772 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr1 217192096 217192184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr12 1721126 1836224 Copy number Lung cancer paired-end sequencing 18438408 ADIPOR2,MIR3649,WNT5B chr1 217212087 237212087 Amplification Autism PCR 14699429 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,AGT,AIDA,ARF1,ARID4B,ARV1,AURKAPS1,B3GALNT2,BPNT1,BROX,C1orf115,C1orf131,C1orf140,C1orf145,C1orf198,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CNIH3,CNIH4,COG2,DEGS1,DISC1,DISC2,DISP1,DNAH14,DUSP10,DUSP5P,EDARADD,EGLN1,ENAH,EPHX1,EPRS,ERO1LB,ESRRG,EXOC8,FAM177B,FAM89A,FBXO28,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPATCH2,GPR137B,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,IARS2,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00210,LINC00582,LOC100130093,LOC100506795,LOC100506810,LOC149373,LOC643723,LOC728463,LYPLAL1,LYST,MARC1,MARC2,MARK1,MIA3,MIR1182,MIR1537,MIR194-1,MIR215,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4742,MIR4753,MIR5008,MIR664,MIXL1,MRPL55,MTR,NID1,NTPCR,NUP133,NVL,OBSCN,PARP1,PCNXL2,PGBD5,PRSS38,PSEN2,PYCR2,RAB3GAP2,RAB4A,RBM34,RHOU,RNF187,RNU5F-1,RRP15,RYR2,SDE2,SIPA1L2,SLC30A10,SLC35F3,SNAP47,SNORA14B,SNORA36B,SNRPD2P2,SPATA17,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TBCE,TGFB2,TLR5,TMEM63A,TOMM20,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr12 17213118 17213218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217222501 217224000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ESRRG chr12 172257 172318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 17226459 17312025 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 17236232 17236332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217236988 217237088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 217251582 217260892 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr1 217261650 217261750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 217262513 217262613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr12 17275762 17275862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217277886 217277986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr12 17286152 17286184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1728683 1728783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNT5B chr1 217293829 217293929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRRG chr1 217310006 217345989 Gain and loss Pancreatic cancer SNP array 17952125 ESRRG chr12 1 73193477 Gain Wilms tumour 250K Genotyping Arrays 21544195 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,ABCC9,ABCD2,ACRBP,ACSM4,ACVR1B,ACVRL1,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALG10,ALG10B,AMHR2,AMIGO2,AMN1,ANKRD33,ANKRD52,ANO2,ANO6,ANP32D,APOBEC1,APOF,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,B4GALNT3,BAZ2A,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf36,C12orf39,C12orf4,C12orf40,C12orf44,C12orf5,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAND1,CAPRIN2,CAPZA3,CASC1,CBX5,CCDC65,CCDC77,CCDC91,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK2,CDK4,CDKN1B,CELA1,CERS5,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COX14,CPM,CPNE8,CPSF6,CREBL2,CS,CSAD,CSDA,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DENND5B,DENND5B-AS1,DERA,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DSTNP2,DTX3,DUSP16,DYRK2,DYRK4,EFCAB4B,EIF4B,EMG1,EMP1,ENDOU,ENO2,EPS8,ERBB3,ERC1,ERGIC2,ERP27,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM138D,FAM186A,FAM186B,FAM19A2,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ41278,FMNL3,FOXJ2,FOXM1,FRS2,GABARAPL1,GALNT6,GALNT8,GAPDH,GDF11,GDF3,GLI1,GLS2,GLYCAM1,GNB3,GNS,GOLT1B,GPD1,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HDAC7,HEBP1,HELB,HIGD1C,HIST4H4,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,HTR7P1,IAPP,IFFO1,IFLTD1,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,ING4,INHBC,INHBE,IPO8,IQSEC3,IRAK3,IRAK4,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNH3,KCNJ8,KCNMB4,KDM5A,KIAA0528,KIAA1467,KIAA1551,KIF21A,KIF5A,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LIMA1,LINC00477,LINC00592,LINC00612,LLPH,LMBR1L,LMO3,LOC100130776,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100506844,LOC100507250,LOC100507424,LOC100652999,LOC101055625,LOC255411,LOC283332,LOC283335,LOC283403,LOC283440,LOC338817,LOC374443,LOC389634,LOC400027,LOC400043,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRK2,LRTM2,LTBR,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED21,METTL1,METTL20,METTL21B,METTL7A,METTL7B,MFAP5,MFSD5,MGP,MGST1,MIP,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1279,MIR1291,MIR1293,MIR141,MIR148B,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR3649,MIR3913-1,MIR3913-2,MIR3974,MIR4302,MIR4698,MIR4701,MIR548C,MIR548Z,MIR613,MIR614,MIR615,MIR920,MIRLET7I,MLF2,MLL2,MMP19,MON2,MRPL51,MRPS35,MRS2P2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NANOG,NANOGNB,NCAPD2,NCKAP1L,NCKAP5L,NDUFA4L2,NDUFA9,NECAP1,NELL2,NEUROD4,NFE2,NINJ2,NOP2,NPFF,NR4A1,NRIP2,NTF3,NUP107,NXPH4,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OVCH1,PA2G4,PAN2,PARP11,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEX5,PFDN5,PFKM,PHB2,PHC1,PIANP,PIK3C2G,PIP4K2C,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PMEL,POU5F1P3,POU6F1,PPFIBP1,PPHLN1,PPM1H,PPP1R1A,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PTGES3,PTHLH,PTMS,PTPN6,PTPRB,PTPRO,PTPRR,PUS7L,PYROXD1,PZP,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAP1B,RAPGEF3,RARG,RASSF3,RASSF8,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RHEBL1,RHNO1,RIMKLB,RND1,RNF41,RNU6-19,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL13P5,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SDR9C7,SENP1,SHMT2,SKP1P2,SLC11A2,SLC15A5,SLC16A7,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SOX5,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SPSB2,SRGAP1,SSPN,ST8SIA1,STAC3,STAT2,STAT6,STK38L,STRAP,STYK1,SUOX,SYT10,TAC3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TEAD4,TENC1,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM19,TMEM194A,TMEM198B,TMEM5,TMEM52B,TMPRSS12,TMTC1,TNFRSF1A,TPH2,TPI1,TRHDE,TRHDE-AS1,TROAP,TSFM,TSPAN11,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,USP15,USP5,VAMP1,VDR,VWF,WBP11,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF705A,ZNF740 chr12 17334001 17339200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 17335993 17337259 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 17336026 17337197 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 17336093 17337204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 1734273 1734587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WNT5B chr1 217348637 217376124 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 1736658 1737247 Gain and loss Pancreatic cancer SNP array 17952125 WNT5B chr1 217387513 217387628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 217413840 217452830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 217413840 217452830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 217422373 217422473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217439881 217440532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 217441138 217446790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 17462418 17463418 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 17462804 17463804 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 17479817 17498708 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 17481710 17498708 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 21748455 21783415 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NBPF3 chr12 17496211 17496311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 17498576 17499079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 17498636 17499712 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 21750394 21854896 Gain and loss Pancreatic cancer SNP array 17952125 ALPL,NBPF3 chr12 17547027 17547097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 17563204 17563304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217571371 217592809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 217592973 217593073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217601487 217601587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217601945 217602035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217629701 217629786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPATCH2 chr12 17633724 17633804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2176528 2177181 Gain and loss Pancreatic cancer SNP array 17952125 SKI chr12 1767600 2412124 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ADIPOR2,CACNA1C,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,DCP1B,LOC100271702,LRTM2,MIR3649 chr12 1771384 1898131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADIPOR2 chr12 1771384 1898131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADIPOR2 chr12 1771392 1898131 Gain and loss Pancreatic cancer SNP array 17952125 ADIPOR2 chr12 17755135 17755245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 17755135 17755247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 217763052 222131692 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 AURKAPS1,BPNT1,C1orf115,C1orf140,DUSP10,EPRS,GPATCH2,HLX,IARS2,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SNORA36B,SPATA17,TGFB2 chr1 217776424 217776524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPATCH2 chr12 17785429 17785655 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 217827090 223301703 Loss Developmental delay affymetrix genechip 500K/SNP 6.8 array 21147756 AIDA,AURKAPS1,BPNT1,BROX,C1orf115,C1orf140,DISP1,DUSP10,EPRS,FAM177B,HHIPL2,HLX,IARS2,LINC00210,LOC643723,LOC728463,LYPLAL1,MARC1,MARC2,MARK1,MIA3,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SNORA36B,SPATA17,TAF1A,TGFB2,TLR5 chr12 17828401 17828501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 17839541 17839641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 217849502 217852027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATA17 chr1 217849502 217852027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA17 chr1 21785501 21869000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALPL,NBPF3 chr1 21786264 21816788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NBPF3 chr12 1786501 1800000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 217903342 217903432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA17 chr1 217913528 217913683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA17 chr1 21791491 21791628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBPF3 chr1 217923152 217923252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA17 chr12 1 79250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 1794686 1795129 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 17947326 17947426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 17949327 17949427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21795302 21868390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALPL,NBPF3 chr1 21795302 21868390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALPL,NBPF3 chr1 217987801 217992100 Deletion Glioma mate-paired sequence 20126413 SPATA17 chr1 217989932 217990249 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPATA17 chr1 217993293 217993361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA17 chr12 1799956 1816179 Gain and loss Pancreatic cancer SNP array 17952125 ADIPOR2 chr12 1799956 1816179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADIPOR2 chr12 180014 645460 Gain Autism Exome sequencing and CGH 22495309 B4GALNT3,CCDC77,IQSEC3,KDM5A,LOC574538,SLC6A12,SLC6A13 chr1 218001648 218001832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA17 chr1 218001754 218001840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA17 chr1 218001879 218002026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA17 chr12 18031104 18187569 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr12 18053500 31175376 Amplification Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ABCC9,AEBP2,ARNTL2,ASUN,BCAT1,BHLHE41,C12orf39,C12orf70,C12orf71,C12orf77,CAPRIN2,CAPZA3,CASC1,CCDC91,CMAS,DDX11-AS1,ERGIC2,ETNK1,FAR2,FGFR1OP2,GOLT1B,GYS2,IAPP,IFLTD1,IPO8,ITPR2,KCNJ8,KIAA0528,KLHDC5,KRAS,LDHB,LINC00477,LOC100287314,LOC100506393,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,MIR4302,MIR920,MRPS35,OVCH1,PDE3A,PIK3C2G,PLCZ1,PLEKHA5,PPFIBP1,PTHLH,PYROXD1,RASSF8,RECQL,REP15,RERGL,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,TM7SF3,TMTC1,TSPAN11 chr12 18053500 31175376 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 ABCC9,AEBP2,ARNTL2,ASUN,BCAT1,BHLHE41,C12orf39,C12orf70,C12orf71,C12orf77,CAPRIN2,CAPZA3,CASC1,CCDC91,CMAS,DDX11-AS1,ERGIC2,ETNK1,FAR2,FGFR1OP2,GOLT1B,GYS2,IAPP,IFLTD1,IPO8,ITPR2,KCNJ8,KIAA0528,KLHDC5,KRAS,LDHB,LINC00477,LOC100287314,LOC100506393,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,MIR4302,MIR920,MRPS35,OVCH1,PDE3A,PIK3C2G,PLCZ1,PLEKHA5,PPFIBP1,PTHLH,PYROXD1,RASSF8,RECQL,REP15,RERGL,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,TM7SF3,TMTC1,TSPAN11 chr12 18069180 18069280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18108642 19428275 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CAPZA3,PIK3C2G,PLCZ1,PLEKHA5,RERGL chr12 18118329 18151619 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 18124334 18238291 Deletion Normal Affymetrix 6.0 microarrays 20967226 RERGL chr12 18125069 18134381 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr12 18125073 18134381 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 18125073 18134381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 18125073 18134381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 21812938 21813000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 18142794 18142894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 218145723 218145823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18150 19673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 1815281 1816281 Loss Osteosarcoma References 21215367 ADIPOR2 chr1 218153471 218168616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218153471 218168616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218155 218517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 18166609 18166673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18188756 19107310 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 CAPZA3,PIK3C2G,PLCZ1,RERGL chr12 18194841 18194941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 218199362 218204512 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 218202617 218202829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218202654 218202830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218208564 218286623 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 218208567 218286623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218208567 218286623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218208628 218208751 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 18208660 18208967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 218227477 218227579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 18230090 18230190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18232652 18232719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18233675 18233849 Gain and loss Pancreatic cancer SNP array 17952125 RERGL chr12 18233675 18233854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERGL chr12 18234281 18266370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RERGL chr12 18234594 18234685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RERGL chr1 218246784 218246884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 218263161 218303856 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 1827001 1918000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADIPOR2,CACNA2D4 chr1 218275073 218275173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18291785 18931540 LOH Normal High-resolution SNP genotyping 21211785 CAPZA3,PIK3C2G,PLCZ1 chr1 218292649 218292730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 218297447 218329814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218297447 218329814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 18305740 18692617 Copy number Lung cancer - 20668451 PIK3C2G chr12 18305740 18692617 Gain or loss Breast cancer - 20668451 PIK3C2G chr12 18305740 18692617 Gain or loss Cancer - 20668451 PIK3C2G chr12 18305740 18692617 Gain or loss Lung cancer - 20668451 PIK3C2G chr12 18305740 18692617 Gain or loss Ovarian cancer - 20668451 PIK3C2G chr12 18305740 18692617 Gain or loss Pancreas cancer - 20668451 PIK3C2G chr12 18305740 18692617 Gain or loss Prostate cancer - 20668451 PIK3C2G chr12 18305741 18692615 Gain and loss Pancreatic cancer SNP array 17952125 PIK3C2G chr12 18305741 18692617 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIK3C2G chr12 18305741 18692617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2G chr12 18305741 18692617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2G chr1 218313329 220732423 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-285K arrays 21546498 AURKAPS1,BPNT1,EPRS,IARS2,LOC643723,LOC728463,LYPLAL1,MARK1,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,RRP15,SLC30A10,SNORA36B,TGFB2 chr1 218334067 218388003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218334067 218388003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218334077 218388006 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 218352078 218352397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 18357703 18927600 LOH Normal High-resolution SNP genotyping 21211785 CAPZA3,PIK3C2G,PLCZ1 chr1 218357818 218357927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218358122 218358206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 18364027 18380447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 183679 257363 Gain aortic dissecting aneurysms Array-CGH 22263138 IQSEC3,LOC574538 chr12 183679 257363 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 IQSEC3,LOC574538 chr12 183679 257363 Gain Stenocardia MACArray Karyo 62K BAC-chips 21860640 IQSEC3,LOC574538 chr12 183679 257363 Gain Vasospasm MACArray Karyo 62K BAC-chips 21860640 IQSEC3,LOC574538 chr1 218377129 218377229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218377606 218377703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 218383929 218384316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218388258 218512419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRP15 chr1 218399071 218399179 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 218399072 218399177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 18402446 18402583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 18402446 18402583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218430579 218430679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 218440511 218440641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 1844721 1845144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADIPOR2 chr12 18467249 18467327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3C2G chr1 218475070 218508856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RRP15 chr1 218477069 218892166 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC728463,RRP15,TGFB2 chr1 218493535 218494501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRP15 chr12 18501783 18501883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3C2G chr12 1850276 2147286 Copy number Lung cancer paired-end sequencing 18438408 ADIPOR2,CACNA2D4,DCP1B,LOC100271702,LRTM2 chr1 218502997 218507504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RRP15 chr1 218506842 218507881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRP15 chr12 18508653 18508753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3C2G chr1 218509461 218509561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRP15 chr1 218535878 218535978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFB2 chr1 218553947 218555668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFB2 chr1 218556632 218557564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFB2 chr1 218558266 218558366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFB2 chr1 218569567 218570205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TGFB2 chr1 218582647 218616840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TGFB2 chr1 218589787 218589871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFB2 chr12 18614538 18616350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIK3C2G chr1 218632360 218632458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18658971 18659003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3C2G chr12 18677846 18710561 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3C2G chr1 218684362 218846708 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 218684362 218846708 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 218688481 218688878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 21869001 21874000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALPL chr12 18691555 19827855 LOH Normal High-resolution SNP genotyping 21211785 AEBP2,CAPZA3,PIK3C2G,PLCZ1,PLEKHA5 chr12 18694693 19827855 LOH Normal High-resolution SNP genotyping 21211785 AEBP2,CAPZA3,PIK3C2G,PLCZ1,PLEKHA5 chr1 218695119 218695277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 18703082 18715910 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PIK3C2G chr1 218707919 218708773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 18715910 19827855 LOH Normal High-resolution SNP genotyping 21211785 AEBP2,CAPZA3,PIK3C2G,PLCZ1,PLEKHA5 chr12 18722301 20079410 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AEBP2,CAPZA3,PIK3C2G,PLCZ1,PLEKHA5 chr12 18727379 18782216 Gain and loss Pancreatic cancer SNP array 17952125 PIK3C2G chr12 18727383 18782185 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIK3C2G chr12 18727383 18782258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2G chr12 18727383 18782258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2G chr12 18736964 18738300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2G chr12 18736964 18738300 Gain and loss Pancreatic cancer SNP array 17952125 PIK3C2G chr12 18736964 18738300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2G chr1 218768191 218903895 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 218768191 218904421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218768191 218904421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 21877250 21882650 Loss Normal 244K array 17666407 ALPL chr1 21877378 21982275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALPL,RAP1GAP chr1 21877378 21982275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALPL,RAP1GAP chr12 18782308 18783388 Gain and loss Pancreatic cancer SNP array 17952125 PIK3C2G chr12 18782312 18783388 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIK3C2G chr12 18782312 18783388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2G chr12 18782312 18783388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3C2G chr12 18785302 18785637 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 PIK3C2G chr1 218811704 218812000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218811706 218812000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 18826457 18827201 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 218828712 218828847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 218831574 218831674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18839663 18873429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCZ1 chr1 21884064 21897020 Gain and loss Pancreatic cancer SNP array 17952125 ALPL chr1 21884404 21884524 Gain Normal 244K array 17666407 ALPL chr1 218848781 218848880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21884914 21884999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ALPL chr1 2188501 2281000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MORN1,SKI chr1 218865705 218867413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 1888032 1888265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADIPOR2 chr12 18898159 18898259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1889864 1905148 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADIPOR2,CACNA2D4 chr1 218911141 218911274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 218923001 219026000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 21892915 23581506 Loss Developmental delay affymetrix genechip 500K/SNP 6.2 array 21147756 ALPL,C1QA,C1QB,C1QC,CDC42,CELA3A,CELA3B,EPHA8,EPHB2,HSPG2,HTR1D,KDM1A,LDLRAD2,LINC00339,LOC729059,LUZP1,MIR3115,MIR4253,MIR4684,RAP1GAP,USP48,WNT4,ZBTB40 chr1 218929817 218939122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 218930167 218939116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218930167 218939116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218942571 219164038 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-254K arrays 21546498 NOT_FOUND chr1 218943075 218943175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 18943447 19545019 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 PLEKHA5 chr1 21894543 21968122 Gain and loss Pancreatic cancer SNP array 17952125 ALPL,RAP1GAP chr1 218959043 244561923 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-284K arrays 21546498 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,AGT,AIDA,AKT3,ARF1,ARID4B,ARV1,AURKAPS1,B3GALNT2,BPNT1,BROX,C1orf100,C1orf115,C1orf131,C1orf140,C1orf145,C1orf198,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNIH3,CNIH4,COG2,DEGS1,DISC1,DISC2,DISP1,DNAH14,DUSP10,DUSP5P,EDARADD,EGLN1,ENAH,EPHX1,EPRS,ERO1LB,EXO1,EXOC8,FAM177B,FAM89A,FBXO28,FH,FMN2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HLX,IARS2,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149373,LOC339529,LOC339535,LOC643723,LOC731275,LYPLAL1,LYST,MAP1LC3C,MARC1,MARC2,MARK1,MIA3,MIR1182,MIR1537,MIR194-1,MIR215,MIR3123,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIR664,MIXL1,MRPL55,MTR,NID1,NTPCR,NUP133,NVL,OBSCN,OPN3,PARP1,PCNXL2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB3GAP2,RAB4A,RBM34,RGS7,RHOU,RNF187,RNU5F-1,RPS7P5,RYR2,SDCCAG8,SDE2,SIPA1L2,SLC30A10,SLC35F3,SNAP47,SNORA14B,SNORA36B,SNRPD2P2,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TBCE,TLR5,TMEM63A,TOMM20,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WDR64,WNT3A,WNT9A,ZNF238,ZNF678,ZNF847P,ZP4 chr1 218988234 219024207 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 218988234 219024207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 218988234 219024207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219019094 219019194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 19020244 19080951 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 219026001 219027500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 19026317 19670872 LOH Normal High-resolution SNP genotyping 21211785 AEBP2,PLEKHA5 chr1 219026865 219054352 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 219026878 219054352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219026878 219054352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219030698 219030798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219037000 219085035 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr12 19040450 19040520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219052300 220838762 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AURKAPS1,BPNT1,EPRS,IARS2,LOC643723,LYPLAL1,MARK1,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,SLC30A10,SNORA36B chr12 19055531 19442103 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 PLEKHA5 chr1 219057482 219057545 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 219065369 219065471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 219065741 219065856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219065741 219065858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219083997 219109825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 19096456 31081996 Copy number Lung cancer paired-end sequencing 18438408 ABCC9,AEBP2,ARNTL2,ASUN,BCAT1,BHLHE41,C12orf39,C12orf70,C12orf71,C12orf77,CAPRIN2,CASC1,CCDC91,CMAS,ERGIC2,ETNK1,FAR2,FGFR1OP2,GOLT1B,GYS2,IAPP,IFLTD1,IPO8,ITPR2,KCNJ8,KIAA0528,KLHDC5,KRAS,LDHB,LINC00477,LOC100287314,LOC100506393,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,MIR4302,MIR920,MRPS35,OVCH1,PDE3A,PLEKHA5,PPFIBP1,PTHLH,PYROXD1,RASSF8,RECQL,REP15,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,TM7SF3,TMTC1,TSPAN11 chr12 19108031 19146096 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr1 219117001 219135000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 19118443 19971799 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AEBP2,PLEKHA5 chr1 219118507 219118655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219119246 219120395 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 219119366 219125018 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 219119366 219125018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219119366 219125018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219119639 219151650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 19133352 19134092 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 19133361 19133731 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 1 91396989 Gain Wilms tumour 250K Genotyping Arrays 21544195 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,ABCC9,ABCD2,ACRBP,ACSM4,ACSS3,ACVR1B,ACVRL1,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALG10,ALG10B,ALX1,AMHR2,AMIGO2,AMN1,ANKRD33,ANKRD52,ANO2,ANO6,ANP32D,APOBEC1,APOF,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2B1,ATP5B,ATP5G2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf44,C12orf5,C12orf50,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC59,CCDC65,CCDC77,CCDC91,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK2,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COX14,CPM,CPNE8,CPSF6,CREBL2,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DENND5B,DENND5B-AS1,DERA,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DSTNP2,DTX3,DUSP16,DUSP6,DYRK2,DYRK4,E2F7,EFCAB4B,EIF4B,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM138D,FAM186A,FAM186B,FAM19A2,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ41278,FMNL3,FOXJ2,FOXM1,FRS2,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GDF11,GDF3,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLYCAM1,GNB3,GNS,GOLT1B,GPD1,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HDAC7,HEBP1,HELB,HIGD1C,HIST4H4,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,HTR7P1,IAPP,IFFO1,IFLTD1,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,ING4,INHBC,INHBE,IPO8,IQSEC3,IRAK3,IRAK4,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KDM5A,KIAA0528,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,KRR1,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LIMA1,LIN7A,LINC00477,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100130776,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100506844,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC255411,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338817,LOC374443,LOC389634,LOC400027,LOC400043,LOC574538,LOC642846,LOC728084,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRIQ1,LRRK2,LRTM2,LTBR,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED21,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1252,MIR1279,MIR1291,MIR1293,MIR141,MIR148B,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR3649,MIR3913-1,MIR3913-2,MIR3974,MIR4302,MIR4698,MIR4699,MIR4701,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR613,MIR614,MIR615,MIR617,MIR618,MIR920,MIRLET7I,MKRN9P,MLF2,MLL2,MMP19,MON2,MRPL51,MRPS35,MRS2P2,MSRB3,MUCL1,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NDUFA4L2,NDUFA9,NECAP1,NELL2,NEUROD4,NFE2,NINJ2,NOP2,NPFF,NR4A1,NRIP2,NTF3,NTS,NUP107,NXPH4,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,PA2G4,PAN2,PARP11,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PMEL,POC1B,POC1B-GALNT4,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1R12A,PPP1R1A,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PTGES3,PTHLH,PTMS,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PYROXD1,PZP,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAP1B,RAPGEF3,RARG,RASSF3,RASSF8,RASSF9,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RHEBL1,RHNO1,RIMKLB,RND1,RNF41,RNU6-19,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL13P5,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SDR9C7,SENP1,SHMT2,SKP1P2,SLC11A2,SLC15A5,SLC16A7,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SLC6A12,SLC6A13,SLC6A15,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SOX5,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SPSB2,SRGAP1,SSPN,ST8SIA1,STAC3,STAT2,STAT6,STK38L,STRAP,STYK1,SUOX,SYT1,SYT10,TAC3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TEAD4,TENC1,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM19,TMEM194A,TMEM198B,TMEM5,TMEM52B,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPH2,TPI1,TRHDE,TRHDE-AS1,TROAP,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,USP15,USP5,VAMP1,VDR,VWF,WBP11,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF705A,ZNF740 chr12 19146096 19349440 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 PLEKHA5 chr12 19173950 19420598 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA5 chr12 19173995 19420598 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLEKHA5 chr12 19173995 19420598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA5 chr12 19173995 19420598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA5 chr1 219174266 219174366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219179845 219227884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 1918001 2068500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA2D4,DCP1B,LOC100271702,LRTM2 chr1 219180408 219185313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 1918257 1918357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D4 chr1 219185314 219185352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219211949 219212044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1 9214391 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 A2ML1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,ATN1,B4GALNT3,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD9,CDCA3,CHD4,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLSTN3,COPS7A,DCP1B,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KLRG1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC389634,LOC574538,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,M6PR,MFAP5,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRMT8,PTMS,PTPN6,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,TAPBPL,TEAD4,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 19220492 19220790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 19220492 19220791 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 19220492 19220791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219222224 219274207 Gain and loss Pancreatic cancer SNP array 17952125 LOC643723 chr12 19223961 21026181 Copy number Lung cancer paired-end sequencing 18438408 AEBP2,LOC100506393,PDE3A,PLEKHA5,SLCO1B3,SLCO1C1 chr1 2192296 2271618 Gain and loss Pancreatic cancer SNP array 17952125 MORN1,SKI chr12 1925477 1983938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D4,LRTM2 chr12 1925477 1983938 Gain and loss Pancreatic cancer SNP array 17952125 CACNA2D4,LRTM2 chr12 1925477 1983938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D4,LRTM2 chr12 19256380 19256480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219258268 219258365 Gain and loss Pancreatic cancer SNP array 17952125 LOC643723 chr12 19262414 19704045 Gain Normal 244K array 17666407 AEBP2,PLEKHA5 chr1 219263452 219263552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643723 chr1 219274301 219294502 Gain and loss Pancreatic cancer SNP array 17952125 LOC643723 chr1 219308283 219310819 Gain and loss Pancreatic cancer SNP array 17952125 LOC643723 chr12 19318761 21691131 Deletion Acute myeloid leukemia - 21251322 AEBP2,C12orf39,GOLT1B,GYS2,IAPP,LOC100506393,PDE3A,PLEKHA5,PYROXD1,RECQL,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr1 219339368 219339468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643723 chr12 19347681 19347977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA5 chr12 19347682 19347975 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA5 chr12 19347682 19347975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA5 chr12 19350044 19877294 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 AEBP2,PLEKHA5 chr12 19361460 19461747 Gain Autism Exome sequencing and CGH 22495309 PLEKHA5 chr12 19366037 19467722 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 PLEKHA5 chr1 219373830 219374186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYPLAL1 chr12 19381594 19381694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHA5 chr1 21939795 21939868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAP1GAP chr1 219417553 219417617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 219443901 219451100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 219471 557615 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 chr1 219472561 219472661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219473583 219473683 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 219483865 219483965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 19483891 19564845 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA5 chr12 19483900 19566440 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLEKHA5 chr12 19483900 19566440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA5 chr12 19483900 19566440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA5 chr12 19490150 19490253 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA5 chr12 19490150 19490255 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA5 chr12 19490150 19490256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA5 chr12 1949882 1949882 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 CACNA2D4 chr12 1949882 1949882 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 CACNA2D4 chr12 1949926 1949926 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 CACNA2D4 chr12 1949926 1949926 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 CACNA2D4 chr1 219504561 219567730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 1951320 1951409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D4 chr1 219521092 219521192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 1956243 2105889 Gain Normal - 20841430 CACNA2D4,DCP1B,LOC100271702 chr1 219563803 219563903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219569893 219576261 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 219574501 219574693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 19576192 19621265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AEBP2 chr1 219587069 219587169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21960752 21960839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAP1GAP chr1 21967349 21967709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAP1GAP chr1 21967827 22158163 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HSPG2,LDLRAD2,RAP1GAP,USP48 chr1 219717663 220838762 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AURKAPS1,BPNT1,EPRS,IARS2,MARK1,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,SLC30A10,SNORA36B chr1 219768427 219909204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 19768636 19768800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 19768636 19768800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 19768637 19768797 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 219789753 219790608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 21979936 21980379 Gain and loss Pancreatic cancer SNP array 17952125 RAP1GAP chr12 19805996 19806219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 19806093 19806223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 19806223 19806390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219810576 219821045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 219812673 219820232 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 21981501 21982500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAP1GAP chr12 1982138 2015237 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA2D4 chr1 219824541 219824641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219824792 219824892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21982501 22020500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAP1GAP,USP48 chr12 19850715 19850815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 19865082 23348440 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCC9,C12orf39,CMAS,ETNK1,GOLT1B,GYS2,IAPP,KCNJ8,KIAA0528,LDHB,LOC100506393,PDE3A,PYROXD1,RECQL,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,ST8SIA1 chr1 219871559 219872491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 19875666 19875815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 21991723 22164741 Gain and loss Pancreatic cancer SNP array 17952125 HSPG2,LDLRAD2,RAP1GAP,USP48 chr1 219918943 219919070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 219928412 219928512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 219936859 219982141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 219938538 219940584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 219941388 219982084 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 219941388 219982084 Gain or loss Cancer - 20668451 NOT_FOUND chr1 219941388 219982084 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 219941388 219982084 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 219941388 219982084 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 219941388 219982084 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 219941389 219982084 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 219941389 219982084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219941389 219982084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 219988486 219988521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 19989005 20024029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 200051 242263 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 IQSEC3 chr12 200052 242263 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IQSEC3 chr12 200052 242263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQSEC3 chr12 200052 242263 Gain and loss Pancreatic cancer SNP array 17952125 IQSEC3 chr12 200052 242263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQSEC3 chr1 220015174 220034847 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 20017066 20017182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 20028750 20028850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 220046633 220046718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNU5F-1 chr1 220077299 220077402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU5F-1 chr12 20078569 20454174 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100506393 chr1 220100767 220101098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNU5F-1,SLC30A10 chr1 22011345 22024301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP48 chr1 22011345 22024301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP48 chr12 20146218 20146318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 20174415 20174484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506393 chr1 220184488 220184551 Gain and loss Pancreatic cancer SNP array 17952125 EPRS,RNU5F-1 chr1 220191720 220191820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPRS,RNU5F-1 chr1 220195708 220195808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPRS,RNU5F-1 chr1 22020501 22114500 Copy number Normal ReadDepth: A Parallel R Package 21305028 USP48 chr1 220206936 220270453 Gain and loss Pancreatic cancer SNP array 17952125 BPNT1,EPRS,IARS2,RNU5F-1 chr1 22021325 22136297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP48 chr1 22021325 22136297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP48 chr12 20228200 20228257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100506393 chr1 220241955 220431365 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BPNT1,IARS2,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,SNORA36B chr1 220241955 220576430 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AURKAPS1,BPNT1,IARS2,MIR194-1,MIR215,MIR664,RAB3GAP2,RNU5F-1,SNORA36B chr1 220252972 220253055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BPNT1,RNU5F-1 chr12 20263971 20264071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 220264944 220281956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IARS2,RNU5F-1 chr12 20273468 20273568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 220274526 220340367 Gain and loss Pancreatic cancer SNP array 17952125 IARS2,MIR194-1,MIR215,RAB3GAP2,RNU5F-1 chr1 220295193 221246662 LOH Normal High-resolution SNP genotyping 21211785 AURKAPS1,C1orf115,HLX,IARS2,MARC1,MARC2,MARK1,MIR664,RAB3GAP2,SNORA36B chr12 20307236 21381648 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PDE3A,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr12 2032725 2677376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1C,CACNA1C-AS4,CACNA1C-IT3,DCP1B,LOC100271702 chr12 2032725 2677376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1C,CACNA1C-AS4,CACNA1C-IT3,DCP1B,LOC100271702 chr12 20337069 20338069 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 20350197 20350297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 220351025 220351794 Gain and loss Pancreatic cancer SNP array 17952125 RAB3GAP2 chr1 220352755 220402455 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MIR664,RAB3GAP2,SNORA36B chr12 20365207 20523107 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PDE3A chr12 20365207 20523107 Copy number gain Normal High-resolution SNP genotyping 21211785 PDE3A chr1 220402455 221785535 LOH Normal High-resolution SNP genotyping 21211785 AURKAPS1,C1orf115,C1orf140,HLX,MARC1,MARC2,MARK1,RAB3GAP2 chr12 20413463 20725148 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PDE3A chr12 20413464 20725148 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PDE3A chr12 20413464 20725148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE3A chr12 20413464 20725148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE3A chr12 20413486 20725646 Gain and loss Pancreatic cancer SNP array 17952125 PDE3A chr1 22042832 22042930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP48 chr1 22043337 22043337 Copy number Prostate cancer Illumina GA II sequencer 21307934 USP48 chr1 220438701 220448900 Deletion Glioma mate-paired sequence 20126413 AURKAPS1,RAB3GAP2 chr1 220440566 220447122 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AURKAPS1,RAB3GAP2 chr1 220440789 220447160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AURKAPS1,RAB3GAP2 chr1 220441714 220447786 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RAB3GAP2 chr1 220443401 220443721 Deletion Medulloblastoma Illumina SNP arrays 21163964 RAB3GAP2 chr12 20449937 20489244 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 220470583 220470685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 22048820 22084331 Gain and loss Pancreatic cancer SNP array 17952125 USP48 chr1 220488331 220669898 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 220501798 220502761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 220503390 220503896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 205189 2075304 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ADIPOR2,B4GALNT3,CACNA2D4,CCDC77,DCP1B,ERC1,FBXL14,IQSEC3,KDM5A,LOC100271702,LOC100292680,LOC574538,LRTM2,MIR3649,NINJ2,RAD52,SLC6A12,SLC6A13,WNK1,WNT5B chr12 20542996 20543057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE3A chr1 220565493 220565590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 220589369 220589502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 22059280 22059576 Gain and loss Pancreatic cancer SNP array 17952125 USP48 chr12 20595625 20595789 Gain and loss Pancreatic cancer SNP array 17952125 PDE3A chr12 20595625 20595789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE3A chr1 22059615 22059712 Gain and loss Pancreatic cancer SNP array 17952125 USP48 chr1 22059615 22059714 Gain and loss Pancreatic cancer SNP array 17952125 USP48 chr1 220600423 220600455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 220601725 220626762 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 220608548 220653974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 220611046 220683633 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 NOT_FOUND chr1 220612062 220612162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 220616869 220617739 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 20652661 20785273 Gain Normal Birdsuite, version 1.5.2 22087296 PDE3A chr1 220658582 220658682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 220669913 220670143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 220670178 220670392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 20670327 20670497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDE3A chr12 20673930 21305400 LOH Normal High-resolution SNP genotyping 21211785 PDE3A,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr1 220674077 220674204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 220674094 220674204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 220677663 220687875 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 220678511 222112407 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-269K arrays 21546498 C1orf115,C1orf140,DUSP10,HLX,MARC1,MARC2,MARK1 chr12 2068501 3162000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,DCP1B,FKBP4,FOXM1,ITFG2,LOC100507424,LOC283440,NRIP2,RHNO1,TEAD4,TULP3 chr12 20691 132288250 Gain Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 20691 50946 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 20691 69793 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 20691 73901 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 20691 86300 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 220708001 220728000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK1 chr1 220708059 220710847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARK1 chr1 220721774 220824619 Gain and loss Pancreatic cancer SNP array 17952125 MARK1 chr12 20724486 20736595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE3A chr1 220726167 220726257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARK1 chr1 220728001 220792500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK1 chr12 20739665 20797585 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PDE3A chr12 20739666 20797585 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PDE3A chr12 20739666 20797585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE3A chr12 20739666 20797585 Gain and loss Pancreatic cancer SNP array 17952125 PDE3A chr12 20739666 20797585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE3A chr12 20739727 20742153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE3A chr1 220743597 220743699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARK1 chr1 220743597 220743700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARK1 chr12 20753787 20754124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDE3A chr1 220762225 220788053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MARK1 chr1 220762225 220788067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARK1 chr1 220762225 220788067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARK1 chr12 20769014 20769805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDE3A chr12 20774805 21395318 LOH Normal High-resolution SNP genotyping 21211785 PDE3A,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr12 20781209 21633573 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 IAPP,PDE3A,PYROXD1,RECQL,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr12 20784531 20784626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE3A chr1 220786452 220829878 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MARK1 chr1 220786452 220829878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARK1 chr1 220786452 220829878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARK1 chr12 20791819 21357516 LOH Normal High-resolution SNP genotyping 21211785 PDE3A,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr12 20793555 21078914 Gain Normal Birdsuite, version 1.5.2 22087296 PDE3A,SLCO1B3,SLCO1C1 chr1 220799817 220799916 Gain and loss Pancreatic cancer SNP array 17952125 MARK1 chr1 22082449 22082745 Gain and loss Pancreatic cancer SNP array 17952125 USP48 chr1 220825454 220825554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARK1 chr1 22082784 22082880 Gain and loss Pancreatic cancer SNP array 17952125 USP48 chr1 22082784 22082894 Gain and loss Pancreatic cancer SNP array 17952125 USP48 chr1 220831228 220831324 Gain and loss Pancreatic cancer SNP array 17952125 MARK1 chr12 20833482 21009087 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PDE3A,SLCO1B3,SLCO1C1 chr12 20833482 21009087 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PDE3A,SLCO1B3,SLCO1C1 chr1 220851308 220870428 Gain and loss Pancreatic cancer SNP array 17952125 C1orf115 chr12 20854904 20960925 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SLCO1C1 chr12 20854905 20960925 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLCO1C1 chr12 20854905 20960925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLCO1C1 chr12 20854905 20960925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1C1 chr1 220857745 220858492 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 220858051 220907977 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf115 chr1 220858067 220907974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf115 chr1 220858067 220907974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf115 chr12 20859895 20960923 Gain and loss Pancreatic cancer SNP array 17952125 SLCO1C1 chr12 20880138 21861916 Copy number loss Normal High-resolution SNP genotyping 21211785 C12orf39,GOLT1B,GYS2,IAPP,LDHB,PYROXD1,RECQL,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr1 220881379 220881823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 220882281 220928293 Gain and loss Pancreatic cancer SNP array 17952125 MARC2 chr1 22088609 22088832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP48 chr12 20888082 21038212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLCO1B3,SLCO1C1 chr1 220890327 220890750 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr12 2089734 2089857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCP1B chr12 2089850 2090070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCP1B chr12 20899786 21300773 Deletion Schizophrenia NimbleGen HD2 platform 21346763 SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr12 20905406 21597921 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 IAPP,PYROXD1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1 chr1 220907980 220952487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARC2 chr1 220907980 220952487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARC2 chr1 220908451 220952439 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MARC2 chr12 20908467 20908686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 20909063 20921469 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 20933406 20965923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLCO1B3 chr1 220933699 220943213 Gain Autism 1M Ailent CGH whole-genome array 21865298 MARC2 chr1 220936485 220936584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARC2 chr12 2094650 2672283 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1C,CACNA1C-AS4,CACNA1C-IT3,DCP1B chr1 220952529 220972730 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MARC1,MARC2 chr1 220952529 220972732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARC1,MARC2 chr1 220952529 220972732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARC1,MARC2 chr1 22097333 22103019 Gain and loss Pancreatic cancer SNP array 17952125 USP48 chr1 220977181 220990758 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MARC1 chr1 220977181 220990758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARC1 chr1 220977181 220990758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARC1 chr12 2102418 2116123 Loss Normal Birdsuite, version 1.5.2 22087296 DCP1B chr12 21043611 21530111 Copy number Lung cancer paired-end sequencing 18438408 IAPP,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7 chr1 221055040 221067314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HLX chr12 21059834 21134307 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLCO1B3 chr12 21059834 21134446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLCO1B3 chr12 21059834 21134446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1B3 chr1 22107178 22107660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP48 chr1 221083545 221083645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 221083948 221090227 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 221094574 222727272 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 C1orf140,DUSP10,HHIPL2 chr1 221094574 222727272 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 C1orf140,DUSP10,HHIPL2 chr12 210973 211073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQSEC3 chr12 21099000 22639000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCC9,C12orf39,CMAS,GOLT1B,GYS2,IAPP,KCNJ8,KIAA0528,LDHB,PYROXD1,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,ST8SIA1 chr1 221110914 221234984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 221112236 221245958 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 221112236 221245958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 221112236 221245958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2112717 2128109 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DCP1B chr1 221127444 221127762 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 22114501 22312500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELA3B,HSPG2,LDLRAD2 chr1 221151811 221151911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 21152676 21552676 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 IAPP,SLCO1A2,SLCO1B1,SLCO1B7 chr12 2115897 2127756 Loss Autism qPCR 20531469 NOT_FOUND chr12 2115897 2127756 Loss Autism qPCR, Illumina1M 20531469 NOT_FOUND chr12 2116123 2128667 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 221165150 222470392 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf140,DUSP10 chr1 221165150 222470392 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf140,DUSP10 chr12 21173693 21173793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO1B7 chr12 21175403 21283995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLCO1B7 chr12 21175403 21283995 Gain and loss Pancreatic cancer SNP array 17952125 SLCO1B7 chr12 21175403 21283995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1B7 chr1 221185690 221185865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 21200000 26300000 Amplification Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Copy number Breast cancer Affymetrix 16272173 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Deletion Heart disease Illumina 624Quad Beadchip platform 21282601 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Gain Barrett's adenocarcinoma FISH 18663352 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Gain Lung cancer Array CGH 17925434 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Gain Non-small cell lung cancer dChip 21829676 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Gain Ovarian cancer Affymetrix 20844748 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 26300000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,ST8SIA1 chr12 21200000 44600000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ABCC9,ABCD2,ADAMTS20,ALG10,ALG10B,AMN1,ARNTL2,ASUN,BCAT1,BHLHE41,BICD1,C12orf39,C12orf40,C12orf70,C12orf71,C12orf77,CAPRIN2,CASC1,CCDC91,CMAS,CNTN1,CPNE8,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,ETNK1,FAM60A,FAR2,FGD4,FGFR1OP2,FLJ13224,GOLT1B,GXYLT1,GYS2,H3F3C,IAPP,IFLTD1,IPO8,IRAK4,ITPR2,KCNJ8,KIAA0528,KIAA1551,KIF21A,KLHDC5,KRAS,LDHB,LINC00477,LOC100287314,LOC100506451,LOC101055625,LRMP,LRRK2,LYRM5,MANSC4,MED21,METTL20,MIR4302,MIR920,MRPS35,OVCH1,PDZRN4,PKP2,PPFIBP1,PPHLN1,PRICKLE1,PTHLH,PUS7L,PYROXD1,RASSF8,RECQL,REP15,RNU6-78,SLC2A13,SLCO1A2,SLCO1B1,SLCO1B7,SOX5,SSPN,ST8SIA1,STK38L,SYT10,TM7SF3,TMEM117,TMTC1,TSPAN11,TWF1,YAF2,YARS2,ZCRB1 chr12 21221028 21232523 Loss Normal Birdsuite, version 1.5.2 22087296 SLCO1B7 chr12 21227923 22066294 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ABCC9,C12orf39,GOLT1B,GYS2,IAPP,KCNJ8,LDHB,PYROXD1,RECQL,SLCO1A2,SLCO1B1,SLCO1B7 chr1 221236981 221237081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 221239616 221239716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 22124194 22155206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HSPG2,LDLRAD2 chr12 2124759 2128271 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 221256501 221803000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf140 chr1 221260860 224709317 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 AIDA,BROX,C1orf140,C1orf65,CAPN2,CAPN8,CNIH4,DEGS1,DISP1,DUSP10,FAM177B,FBXO28,HHIPL2,MIA3,MIR320B2,MIR4742,NVL,SUSD4,TAF1A,TLR5,TP53BP2,WDR26 chr12 21267043 21267123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 21272858 21272949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 21275486 21275586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 21275486 21275586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 221279306 221279391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 221299612 221299733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 21300000 26500000 Amplification Gastric cancer FISH 19545448 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Copy number Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Copy number Lung adenocarcinoma Agilent 44k arrays 19525976 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Copy number Lung adenocarcinoma Power SYBR Green PCR Master Mix 19826477 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Copy number Lung cancer Agilent 44k arrays 19525976 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Copy number Lung cancer correlation matrix diagonal segmentation method 20031968 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Copy number Lung cancer Power SYBR Green PCR Master Mix 19826477 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Copy number Non-small cell lung cancer AffymetrixGenotypingToolssoftware 19451690 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Copy number Non-small cell lung cancer FISH 17504988 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 26500000 Gain Lung cancer GeneChip Human Mapping 100K Set SNP arrays 19671679 ABCC9,BCAT1,BHLHE41,C12orf39,C12orf77,CASC1,CMAS,ETNK1,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KRAS,LDHB,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,PYROXD1,RASSF8,RECQL,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1 chr12 21300000 30700000 Gain Breast cancer Microarray-based CGH 17133270 ABCC9,ARNTL2,ASUN,BCAT1,BHLHE41,C12orf39,C12orf70,C12orf71,C12orf77,CASC1,CCDC91,CMAS,ERGIC2,ETNK1,FAR2,FGFR1OP2,GOLT1B,GYS2,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KLHDC5,KRAS,LDHB,LINC00477,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,MIR4302,MIR920,MRPS35,OVCH1,PPFIBP1,PTHLH,PYROXD1,RASSF8,RECQL,REP15,SLCO1A2,SLCO1B1,SOX5,SSPN,ST8SIA1,STK38L,TM7SF3,TMTC1 chr1 221304071 221582122 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-275K arrays 21546498 C1orf140 chr12 21311651 21439638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2,SLCO1B1 chr12 21311651 21439638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2,SLCO1B1 chr12 21312610 21316780 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 SLCO1B1 chr12 21313094 21439638 Gain and loss Pancreatic cancer SNP array 17952125 SLCO1A2,SLCO1B1 chr12 21327293 21327393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO1B1 chr1 221350206 221383247 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 221350206 221383247 Gain or loss Cancer - 20668451 NOT_FOUND chr1 221350206 221383247 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 221350206 221383247 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 221350206 221383247 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 221350206 221383247 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 221350207 221383247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 221350207 221383247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 21376446 21376546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO1B1 chr1 221376776 221376865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 21389586 21389660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO1B1 chr1 221394659 221560009 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1orf140 chr1 221401766 221501748 Loss Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 NOT_FOUND chr1 221408537 221408637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 21417085 21423683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2 chr12 21417085 21423683 Gain and loss Pancreatic cancer SNP array 17952125 SLCO1A2 chr12 21417085 21423683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2 chr1 221424119 221519035 Gain and loss Pancreatic cancer SNP array 17952125 C1orf140 chr1 221428045 221551723 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf140 chr12 21430019 21430131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO1A2 chr12 21430237 21430427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO1A2 chr12 21446005 21459060 Duplication Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 SLCO1A2 chr12 21452899 21452972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2 chr1 221460783 221604167 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 C1orf140 chr1 221460784 221604167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf140 chr1 221460784 221604167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf140 chr12 21460826 21460916 Gain and loss Pancreatic cancer SNP array 17952125 SLCO1A2 chr12 21460826 21460916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2 chr12 21470086 22138091 LOH Normal High-resolution SNP genotyping 21211785 ABCC9,C12orf39,GOLT1B,GYS2,IAPP,KCNJ8,LDHB,PYROXD1,RECQL,SLCO1A2 chr12 21481877 21514553 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 SLCO1A2 chr12 21481878 21514549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2 chr12 21481878 21514551 Gain and loss Pancreatic cancer SNP array 17952125 SLCO1A2 chr1 221482972 221501547 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 21485392 21485492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO1A2 chr12 21513983 21545796 Gain and loss Pancreatic cancer SNP array 17952125 IAPP,SLCO1A2 chr12 21513983 21548782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IAPP,SLCO1A2 chr12 21513983 21548782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IAPP,SLCO1A2 chr12 21514352 21545796 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 IAPP,SLCO1A2 chr12 21544111 21572286 Copy number Lung cancer paired-end sequencing 18438408 SLCO1A2 chr12 21546016 21562358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2 chr12 21546016 21562358 Gain and loss Pancreatic cancer SNP array 17952125 SLCO1A2 chr12 21546016 21562358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO1A2 chr12 21546066 21562357 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 SLCO1A2 chr12 21570508 21576724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 21570508 21576724 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 21570508 21576724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 221575053 222283485 Gain and loss Pancreatic cancer SNP array 17952125 DUSP10 chr12 21580389 21649048 Copy number Lung cancer - 20668451 PYROXD1,RECQL chr12 21580389 21649048 Gain or loss Breast cancer - 20668451 PYROXD1,RECQL chr12 21580389 21649048 Gain or loss Cancer - 20668451 PYROXD1,RECQL chr12 21580389 21649048 Gain or loss Lung cancer - 20668451 PYROXD1,RECQL chr12 21580389 21649048 Gain or loss Ovarian cancer - 20668451 PYROXD1,RECQL chr12 21580389 21649048 Gain or loss Pancreas cancer - 20668451 PYROXD1,RECQL chr12 21580389 21649048 Gain or loss Prostate cancer - 20668451 PYROXD1,RECQL chr12 21580390 21649048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PYROXD1,RECQL chr12 21580390 21649048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PYROXD1,RECQL chr12 21580392 21648821 Gain and loss Pancreatic cancer SNP array 17952125 PYROXD1,RECQL chr12 21586321 21675781 Copy number Lung cancer paired-end sequencing 18438408 GOLT1B,PYROXD1,RECQL chr12 21588164 21588264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 21612818 21612918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PYROXD1 chr12 2161321 2387928 Copy number Lung cancer paired-end sequencing 18438408 CACNA1C,CACNA1C-AS4,CACNA1C-IT3 chr1 22161605 22195710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSPG2 chr1 22162544 22162623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPG2 chr1 221632096 221632196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 221633391 221635435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 221633391 221635435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 21667017 23138292 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ABCC9,C12orf39,CMAS,ETNK1,GOLT1B,GYS2,KCNJ8,KIAA0528,LDHB,ST8SIA1 chr12 21679542 21702043 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 C12orf39,GYS2 chr12 21679543 21702043 Gain and loss Pancreatic cancer SNP array 17952125 C12orf39,GYS2 chr12 21679543 21702043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf39,GYS2 chr12 21684232 21716633 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GYS2 chr1 22168894 22184495 Gain Normal Birdsuite, version 1.5.2 22087296 HSPG2 chr12 21691706 21763614 Copy number Lung cancer paired-end sequencing 18438408 GYS2 chr12 21698525 21698625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GYS2 chr12 217001 512000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC77,IQSEC3,KDM5A,LOC574538,SLC6A12,SLC6A13 chr1 221711686 221833513 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 2171257 2171312 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNA1C chr12 21752842 21753196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GYS2 chr1 221755768 221755843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 22175999 22188432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22175999 22188432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr12 21778138 23270644 Copy number Lung cancer paired-end sequencing 18438408 ABCC9,CMAS,ETNK1,KCNJ8,KIAA0528,LDHB,ST8SIA1 chr1 221781608 221920016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP10 chr1 221781608 221920016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP10 chr1 221803001 221839500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 221808600 221809485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 21809156 21819014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDHB chr12 21809156 21819014 Gain and loss Pancreatic cancer SNP array 17952125 LDHB chr12 21809156 21819014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDHB chr12 21819812 22161860 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC9,KCNJ8 chr1 221839501 221872500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 21841590 21985603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC9,KCNJ8 chr12 21841590 21985603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC9,KCNJ8 chr12 21845245 21985434 Gain and loss Pancreatic cancer SNP array 17952125 ABCC9,KCNJ8 chr12 21850859 21850959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 21859982 24659982 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ABCC9,CMAS,ETNK1,KCNJ8,KIAA0528,MIR920,SOX5,ST8SIA1 chr12 21860000 31460000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ABCC9,ARNTL2,ASUN,BCAT1,BHLHE41,C12orf70,C12orf71,C12orf77,CAPRIN2,CASC1,CCDC91,CMAS,DDX11,DDX11-AS1,ERGIC2,ETNK1,FAM60A,FAR2,FGFR1OP2,IFLTD1,IPO8,ITPR2,KCNJ8,KIAA0528,KLHDC5,KRAS,LINC00477,LOC100287314,LOC100506451,LOC101055625,LRMP,LYRM5,MANSC4,MED21,MIR4302,MIR920,MRPS35,OVCH1,PPFIBP1,PTHLH,RASSF8,REP15,SOX5,SSPN,ST8SIA1,STK38L,TM7SF3,TMTC1,TSPAN11 chr1 22186561 22186855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22186561 22186857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22186896 22186999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 221872501 221874000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 221895940 221923254 Gain and loss Pancreatic cancer SNP array 17952125 DUSP10 chr1 221898434 221898708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP10 chr12 21905451 21998738 Copy number loss Normal High-resolution SNP genotyping 21211785 ABCC9,KCNJ8 chr1 22190770 22193098 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HSPG2 chr1 22190896 22214757 Gain and loss Pancreatic cancer SNP array 17952125 HSPG2 chr1 22193098 22193102 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HSPG2 chr1 22193102 22195744 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HSPG2 chr12 21938741 21938842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 221944376 221944483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2195174 3630092 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,FKBP4,FOXM1,ITFG2,LOC100507424,LOC283440,NRIP2,PRMT8,RHNO1,TEAD4,TSPAN9,TULP3 chr1 22195744 22203126 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HSPG2 chr1 221966001 222020000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 221966741 222030343 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 221966741 222030343 Gain or loss Cancer - 20668451 NOT_FOUND chr1 221966741 222030343 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 221966741 222030343 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 221966741 222030343 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 221966741 222030343 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 221966877 222030168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 221966902 221967002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 221969005 221969073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 221969158 221969380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 221971729 221974212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 21973106 21973206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC9 chr12 21978139 21993559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABCC9 chr1 221979953 222024744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 221986880 221988190 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 221989915 222147521 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 22200000 78774742 Duplication Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ACADM,ACOT11,ADC,ADPRHL2,AGBL4,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKR1A1,ALG6,ANGPTL3,ANKRD13C,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf141,C1orf168,C1orf172,C1orf173,C1orf177,C1orf185,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf63,C1orf87,C1orf94,C8A,C8B,CACHD1,CAP1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC28B,CCDC30,CD164L2,CD52,CDC20,CDC42,CDCA8,CDCP2,CDKN2C,CELA3A,CELA3B,CEP85,CITED4,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CPT2,CRYZ,CSF3R,CSMD2,CTH,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DEM1,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC6,DNAJC8,DNALI1,DOCK7,DPH2,E2F2,EBNA1BP2,ECHDC2,EDN2,EFCAB7,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,EPB41,EPHA10,EPHA8,EPHB2,EPS15,ERI3,ERMAP,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM46B,FAM54B,FAM73A,FAM76A,FCN3,FGGY,FGR,FHL3,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GADD45A,GALE,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GMEB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPR,HOOK1,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPG2,HTR1D,HYI,ID3,IFI6,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIF2C,KLF17,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LOC100128071,LOC100129924,LOC100130557,LOC100131060,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC400752,LOC402779,LOC644961,LOC646471,LOC653160,LOC728431,LOC729041,LOC729059,LRP8,LRRC40,LRRC41,LRRC42,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,MACF1,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MFSD2A,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR1976,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3605,MIR3659,MIR3671,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4420,MIR4422,MIR4684,MIR4711,MIR4781,MIR4794,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MSH4,MTF1,MTMR9LP,MUTYH,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NCDN,NCMAP,NDUFS5,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PAFAH2,PAQR7,PARS2,PCSK9,PDE4B,PDIK1L,PDZK1IP1,PDZK1IP1-AS1,PEF1,PGM1,PHACTR4,PHC2,PIGK,PIGV,PIK3R3,PIN1P1,PITHD1,PLK3,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PRDX1,PRKAA2,PRPF38A,PSMB2,PTAFR,PTCH2,PTGER3,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAVER2,RBBP4,RCAN3,RCAN3AS,RCC1,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF19B,RNF220,RNU11,ROR1,RPA2,RPE65,RPL11,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSPO1,RUNX3,S100PBP,SCARNA1,SCMH1,SCP2,SDC3,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH3BGRL3,SH3D21,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC35D1,SLC44A5,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA6,SPOCD1,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZT2,TACSTD2,TAF12,TAL1,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMEM125,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC39A,TTC4,TXLNA,TXNDC12,TYW3,UBE2U,UBXN11,UQCRH,UROD,USP1,USP24,USP33,UTP11L,WASF2,WDR65,WDR78,WDTC1,WLS,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 22200000 78774742 Gain Chordoma Array CGH 21602918 ACADM,ACOT11,ADC,ADPRHL2,AGBL4,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKR1A1,ALG6,ANGPTL3,ANKRD13C,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf141,C1orf168,C1orf172,C1orf173,C1orf177,C1orf185,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf63,C1orf87,C1orf94,C8A,C8B,CACHD1,CAP1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC28B,CCDC30,CD164L2,CD52,CDC20,CDC42,CDCA8,CDCP2,CDKN2C,CELA3A,CELA3B,CEP85,CITED4,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CPT2,CRYZ,CSF3R,CSMD2,CTH,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DEM1,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC6,DNAJC8,DNALI1,DOCK7,DPH2,E2F2,EBNA1BP2,ECHDC2,EDN2,EFCAB7,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,EPB41,EPHA10,EPHA8,EPHB2,EPS15,ERI3,ERMAP,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM46B,FAM54B,FAM73A,FAM76A,FCN3,FGGY,FGR,FHL3,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GADD45A,GALE,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GMEB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPR,HOOK1,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPG2,HTR1D,HYI,ID3,IFI6,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIF2C,KLF17,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LOC100128071,LOC100129924,LOC100130557,LOC100131060,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC400752,LOC402779,LOC644961,LOC646471,LOC653160,LOC728431,LOC729041,LOC729059,LRP8,LRRC40,LRRC41,LRRC42,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,MACF1,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MFSD2A,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR1976,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3605,MIR3659,MIR3671,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4420,MIR4422,MIR4684,MIR4711,MIR4781,MIR4794,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MSH4,MTF1,MTMR9LP,MUTYH,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NCDN,NCMAP,NDUFS5,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PAFAH2,PAQR7,PARS2,PCSK9,PDE4B,PDIK1L,PDZK1IP1,PDZK1IP1-AS1,PEF1,PGM1,PHACTR4,PHC2,PIGK,PIGV,PIK3R3,PIN1P1,PITHD1,PLK3,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PRDX1,PRKAA2,PRPF38A,PSMB2,PTAFR,PTCH2,PTGER3,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAVER2,RBBP4,RCAN3,RCAN3AS,RCC1,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF19B,RNF220,RNU11,ROR1,RPA2,RPE65,RPL11,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSPO1,RUNX3,S100PBP,SCARNA1,SCMH1,SCP2,SDC3,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH3BGRL3,SH3D21,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC35D1,SLC44A5,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA6,SPOCD1,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZT2,TACSTD2,TAF12,TAL1,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMEM125,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC39A,TTC4,TXLNA,TXNDC12,TYW3,UBE2U,UBXN11,UQCRH,UROD,USP1,USP24,USP33,UTP11L,WASF2,WDR65,WDR78,WDTC1,WLS,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr12 22002246 22044745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABCC9 chr1 222003846 222003921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 22200736 22224238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22200736 22224238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 222018416 222018516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 22019601 22023700 Deletion Glioma mate-paired sequence 20126413 ABCC9 chr1 22203126 22209830 Loss Normal Birdsuite, version 1.5.2 22087296 HSPG2 chr12 22032101 22250748 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC9,CMAS chr1 222034219 222100297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222034219 222100297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2205902 2240837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr1 222061106 222061206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 22066294 26671330 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ABCC9,BCAT1,BHLHE41,C12orf77,CASC1,CMAS,ETNK1,IFLTD1,ITPR2,KIAA0528,KRAS,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,RASSF8,SOX5,SSPN,ST8SIA1 chr12 22088282 22128752 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ABCC9 chr12 22090426 22109869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 22090426 22109869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 22090426 22109869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2209448 2239503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr1 22209730 22210024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22209730 22210026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22209830 22210712 Loss Normal Birdsuite, version 1.5.2 22087296 HSPG2 chr1 222100000 228800000 Copy number Fumarase deficiency Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACBD3,ADCK3,AIDA,ARF1,BROX,C1orf145,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CDC42BPA,CNIH3,CNIH4,DEGS1,DISP1,DNAH14,DUSP5P,ENAH,EPHX1,FAM177B,FBXO28,GJC2,GUK1,H3F3A,H3F3AP4,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,LBR,LEFTY1,LEFTY2,LIN9,LOC100130093,MIA3,MIR320B2,MIR3620,MIR4666A,MIR4742,MIR5008,MIXL1,MRPL55,NVL,OBSCN,PARP1,PRSS38,PSEN2,PYCR2,RHOU,RNF187,SDE2,SNAP47,SRP9,SUSD4,TAF1A,TLR5,TMEM63A,TP53BP2,TRIM11,TRIM17,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr1 222100000 228800000 Translocation Autism three-colour fluorescence in situ hybridisation 17483303 ACBD3,ADCK3,AIDA,ARF1,BROX,C1orf145,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CDC42BPA,CNIH3,CNIH4,DEGS1,DISP1,DNAH14,DUSP5P,ENAH,EPHX1,FAM177B,FBXO28,GJC2,GUK1,H3F3A,H3F3AP4,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,LBR,LEFTY1,LEFTY2,LIN9,LOC100130093,MIA3,MIR320B2,MIR3620,MIR4666A,MIR4742,MIR5008,MIXL1,MRPL55,NVL,OBSCN,PARP1,PRSS38,PSEN2,PYCR2,RHOU,RNF187,SDE2,SNAP47,SRP9,SUSD4,TAF1A,TLR5,TMEM63A,TP53BP2,TRIM11,TRIM17,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr1 222100000 247249719 Duplication Congenital abnormalities BAC array CGH platform 21549014 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AIDA,AKT3,ARF1,ARID4B,ARV1,B3GALNT2,BROX,C1orf100,C1orf101,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DISP1,DNAH14,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,ERO1LB,EXO1,EXOC8,FAM177B,FAM89A,FBXO28,FH,FMN2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HNRNPU,HNRNPU-AS1,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC731275,LYST,MAP1LC3C,MIA3,MIR1182,MIR1537,MIR3123,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIXL1,MRPL55,MTR,NID1,NTPCR,NUP133,NVL,OBSCN,OPN3,PARP1,PCNXL2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RGS7,RHOU,RNF187,RPS7P5,RYR2,SCCPDH,SDCCAG8,SDE2,SIPA1L2,SLC35F3,SMYD3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TBCE,TFB2M,TLR5,TMEM63A,TOMM20,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WDR64,WNT3A,WNT9A,ZNF238,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 222100000 247249719 Duplication Developmental delay BAC array CGH platform 21549014 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AIDA,AKT3,ARF1,ARID4B,ARV1,B3GALNT2,BROX,C1orf100,C1orf101,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DISP1,DNAH14,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,ERO1LB,EXO1,EXOC8,FAM177B,FAM89A,FBXO28,FH,FMN2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HNRNPU,HNRNPU-AS1,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC731275,LYST,MAP1LC3C,MIA3,MIR1182,MIR1537,MIR3123,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIXL1,MRPL55,MTR,NID1,NTPCR,NUP133,NVL,OBSCN,OPN3,PARP1,PCNXL2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RGS7,RHOU,RNF187,RPS7P5,RYR2,SCCPDH,SDCCAG8,SDE2,SIPA1L2,SLC35F3,SMYD3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TBCE,TFB2M,TLR5,TMEM63A,TOMM20,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WDR64,WNT3A,WNT9A,ZNF238,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 222100000 247249719 Duplication Mental retardation BAC array CGH platform 21549014 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AIDA,AKT3,ARF1,ARID4B,ARV1,B3GALNT2,BROX,C1orf100,C1orf101,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DISP1,DNAH14,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,ERO1LB,EXO1,EXOC8,FAM177B,FAM89A,FBXO28,FH,FMN2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HNRNPU,HNRNPU-AS1,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC731275,LYST,MAP1LC3C,MIA3,MIR1182,MIR1537,MIR3123,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIXL1,MRPL55,MTR,NID1,NTPCR,NUP133,NVL,OBSCN,OPN3,PARP1,PCNXL2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RGS7,RHOU,RNF187,RPS7P5,RYR2,SCCPDH,SDCCAG8,SDE2,SIPA1L2,SLC35F3,SMYD3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TBCE,TFB2M,TLR5,TMEM63A,TOMM20,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WDR64,WNT3A,WNT9A,ZNF238,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 22210065 22210168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22210712 22216789 Loss Normal Birdsuite, version 1.5.2 22087296 HSPG2 chr1 222110904 222111712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222118620 222118927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 22123582 22123798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 22123781 22124038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 22139808 22143280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 222143148 222295429 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr12 22144447 22144771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 222150063 222281979 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr12 2215592 2236827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr12 22167709 22167809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222167915 222168015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2221742 7114855 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ACOT7,ACTRT2,AJAP1,ARHGEF16,C1orf174,CAMTA1,CCDC27,CEP104,CHD5,DFFB,DNAJC11,ESPN,FAM213B,FLJ42875,GPR153,HES2,HES3,HES5,ICMT,KCNAB2,KLHL21,LOC100129534,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR4252,MIR4417,MIR4689,MIR551A,MMEL1,MORN1,NOL9,NPHP4,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PRDM16,RER1,RNF207,RPL22,SKI,SMIM1,TAS1R1,THAP3,TNFRSF14,TNFRSF25,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73,ZBTB48 chr12 2218467 2242754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr1 222190563 222190663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 22194924 22195024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222201751 222205250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 222201925 222204741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222205251 222266000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 22210384 22628174 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CMAS,KIAA0528,ST8SIA1 chr1 222230471 222230574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222235712 222235781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222236005 222236105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222237079 222242479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222237079 222242479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 22239670 22239805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 22239670 22239830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 22245204 22378915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST8SIA1 chr12 22245204 22378915 Gain and loss Pancreatic cancer SNP array 17952125 ST8SIA1 chr12 22245204 22378915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST8SIA1 chr1 222250220 222257979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222255260 222255360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 22225532 22225617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPG2 chr12 22258340 23006296 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ETNK1,KIAA0528,ST8SIA1 chr1 222263052 222264932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222266001 222271500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 222267481 222269082 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 222269859 222269942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222272266 222284902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222285029 222289381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222285029 222289381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222290755 222290820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 2229492 2250044 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr1 22229736 22230209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22229736 22230209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 222297471 247249719 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AIDA,AKT3,ARF1,ARID4B,ARV1,B3GALNT2,BROX,C1orf100,C1orf101,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DISP1,DNAH14,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,ERO1LB,EXO1,EXOC8,FAM177B,FAM89A,FBXO28,FH,FMN2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HHIPL2,HIST3H2A,HIST3H2BB,HIST3H3,HNRNPU,HNRNPU-AS1,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC731275,LYST,MAP1LC3C,MIA3,MIR1182,MIR1537,MIR3123,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIXL1,MRPL55,MTR,NID1,NTPCR,NUP133,NVL,OBSCN,OPN3,PARP1,PCNXL2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RGS7,RHOU,RNF187,RPS7P5,RYR2,SCCPDH,SDCCAG8,SDE2,SIPA1L2,SLC35F3,SMYD3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,SUSD4,TAF1A,TAF5L,TARBP1,TBCE,TFB2M,TLR5,TMEM63A,TOMM20,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WDR64,WNT3A,WNT9A,ZNF238,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 222301898 222301930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222304587 222339995 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 22307370 22313507 Gain Normal 244K array 17666407 NOT_FOUND chr1 222313726 222314201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 222325948 222326654 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr12 2232885 2240907 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr12 22333366 22333461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 22333762 22472221 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ST8SIA1 chr1 222339975 222376783 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 2234332 2236068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr12 223502 223596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQSEC3 chr1 22235157 22292024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 22235157 22292024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPG2 chr1 222368435 222413869 Copy number Lung cancer - 20668451 NOT_FOUND chr1 222368435 222413869 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 222368435 222413869 Gain or loss Cancer - 20668451 NOT_FOUND chr1 222368435 222413869 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 222368435 222413869 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 222368435 222413869 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 222368435 222413869 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 222368436 222413862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222368436 222413862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222380714 222383568 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222394521 222408636 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 222394521 222412809 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 222394521 222417646 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 222394521 222417646 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 222403566 222403666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222414313 222418666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 22416858 22416958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST8SIA1 chr1 222429801 222430031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222431033 222435655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222433966 222434092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222437551 222447763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222437551 222447763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 22438256 22476268 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST8SIA1 chr12 22445008 22479016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST8SIA1 chr12 22458606 22480644 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST8SIA1 chr1 222458616 222458869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222459445 222459757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 22461735 22485775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST8SIA1 chr12 22462413 22478684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST8SIA1 chr12 22468165 22477314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST8SIA1 chr1 222477139 222493758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222481662 222584507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222481662 222584507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 22492793 22588719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 22492808 22588719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 22492808 22588719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222511329 222511466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222531237 222531299 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 22535457 23214735 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ETNK1,KIAA0528 chr12 22541223 22541323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222551971 222552925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222557156 222566437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222559705 222559808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222591116 222591212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222592778 222592923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 2259441 2259539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr1 222600000 222900000 Loss Acute lymphoblastic leukemia - 21339820 AIDA,BROX,HHIPL2,MIA3,TAF1A chr1 22260000 23310000 Loss Breast cancer aCGH 21509527 C1QA,C1QB,C1QC,CDC42,CELA3A,CELA3B,EPHA8,EPHB2,HSPG2,LINC00339,MIR4253,MIR4684,WNT4,ZBTB40 chr1 222606000 222909000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AIDA,BROX,HHIPL2,MIA3,TAF1A chr1 222611183 222633777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222611183 222633777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222611217 222632846 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 222639117 222681166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222639728 222688624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 222639728 222688624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 22669276 22729910 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0528 chr12 22669343 22734875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0528 chr12 22669343 22734875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0528 chr12 2267492 5164844 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 AKAP3,C12orf4,C12orf5,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CCND2,DYRK4,EFCAB4B,FGF23,FGF6,FKBP4,FOXM1,GALNT8,ITFG2,KCNA1,KCNA5,KCNA6,LOC100507424,LOC283440,NDUFA9,NRIP2,PARP11,PRMT8,RAD51AP1,RHNO1,TEAD4,TSPAN9,TULP3 chr12 2267492 5164844 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 AKAP3,C12orf4,C12orf5,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CCND2,DYRK4,EFCAB4B,FGF23,FGF6,FKBP4,FOXM1,GALNT8,ITFG2,KCNA1,KCNA5,KCNA6,LOC100507424,LOC283440,NDUFA9,NRIP2,PARP11,PRMT8,RAD51AP1,RHNO1,TEAD4,TSPAN9,TULP3 chr1 222700000 225100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIDA,BROX,C1orf65,CAPN2,CAPN8,CNIH3,CNIH4,DEGS1,DISP1,FAM177B,FBXO28,HHIPL2,MIA3,MIR320B2,MIR4742,NVL,SUSD4,TAF1A,TLR5,TP53BP2,WDR26 chr1 222700000 225100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIDA,BROX,C1orf65,CAPN2,CAPN8,CNIH3,CNIH4,DEGS1,DISP1,FAM177B,FBXO28,HHIPL2,MIA3,MIR320B2,MIR4742,NVL,SUSD4,TAF1A,TLR5,TP53BP2,WDR26 chr1 222700000 225100000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 AIDA,BROX,C1orf65,CAPN2,CAPN8,CNIH3,CNIH4,DEGS1,DISP1,FAM177B,FBXO28,HHIPL2,MIA3,MIR320B2,MIR4742,NVL,SUSD4,TAF1A,TLR5,TP53BP2,WDR26 chr12 2270000 2880000 Loss Breast cancer aCGH 21509527 CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,LOC283440 chr1 222718118 222720248 Gain and loss Pancreatic cancer SNP array 17952125 HHIPL2 chr1 222725600 222804025 Gain and loss Pancreatic cancer SNP array 17952125 MIA3,TAF1A chr12 22727319 23058874 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ETNK1 chr12 22761662 22761762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222798699 222798798 Gain and loss Pancreatic cancer SNP array 17952125 MIA3 chr12 22807847 22807947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETNK1 chr1 222810499 222810600 Gain and loss Pancreatic cancer SNP array 17952125 MIA3 chr1 222816033 222849493 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AIDA,MIA3 chr1 222828759 222829714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIA3 chr1 222852436 222852627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AIDA chr1 222852658 222852758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AIDA chr1 222855241 222902526 Gain and loss Pancreatic cancer SNP array 17952125 AIDA,BROX chr1 222870001 222871500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AIDA chr1 222870594 222870694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AIDA chr1 222870618 222994889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AIDA,BROX,DISP1,FAM177B chr1 222870618 222994889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIDA,BROX,DISP1,FAM177B chr1 222882294 222884930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AIDA chr1 222915498 222916211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM177B chr1 222919863 222920029 Gain and loss Pancreatic cancer SNP array 17952125 FAM177B chr12 22920246 22920346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222921283 222921456 Gain and loss Pancreatic cancer SNP array 17952125 FAM177B chr1 22292295 22292395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222926056 224110097 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf65,CAPN2,CAPN8,DISP1,SUSD4,TLR5,TP53BP2 chr12 22931578 22931670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 222933825 222933925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 22939791 22974444 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 222940373 222940693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 222940374 222940607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 22298218 22381530 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDC42,CELA3A,CELA3B,LINC00339 chr12 22988815 22989146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 23020763 23020863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 23057940 23058025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 223073839 225318623 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 C1orf65,CAPN2,CAPN8,CNIH3,CNIH4,DEGS1,DISP1,DNAH14,FBXO28,MIR320B2,MIR4742,NVL,SUSD4,TLR5,TP53BP2,WDR26 chr12 23092464 23687341 LOH Normal High-resolution SNP genotyping 21211785 SOX5 chr1 223103070 223138343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DISP1 chr1 22312501 22486000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC42,CELA3A,CELA3B,LINC00339,WNT4 chr1 223126127 223231930 Gain and loss Pancreatic cancer SNP array 17952125 DISP1 chr1 22316384 22342106 Gain or loss Breast cancer - 20668451 CELA3A chr1 22316384 22342106 Gain or loss Cancer - 20668451 CELA3A chr1 22316384 22342106 Gain or loss Lung cancer - 20668451 CELA3A chr1 22316384 22342106 Gain or loss Ovarian cancer - 20668451 CELA3A chr1 22316384 22342106 Gain or loss Pancreas cancer - 20668451 CELA3A chr1 22316384 22342106 Gain or loss Prostate cancer - 20668451 CELA3A chr1 22316385 22342106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELA3A chr1 22316385 22342106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELA3A chr12 23173888 23173988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 223176095 223826641 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf65,CAPN8,DISP1,SUSD4,TLR5 chr1 223183985 223278921 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 223183992 223297258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLR5 chr1 223183992 223297258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLR5 chr12 23197970 23829123 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SOX5 chr1 223214607 229308654 Gain Glioblastoma multiforme 244K oligo array 21138945 ACBD3,ADCK3,ARF1,C1orf145,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CDC42BPA,CNIH3,CNIH4,DEGS1,DNAH14,DUSP5P,ENAH,EPHX1,FBXO28,GJC2,GUK1,H3F3A,H3F3AP4,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,LBR,LEFTY1,LEFTY2,LIN9,LOC100130093,MIR320B2,MIR3620,MIR4666A,MIR4742,MIR5008,MIXL1,MRPL55,NVL,OBSCN,PARP1,PRSS38,PSEN2,PYCR2,RHOU,RNF187,SDE2,SNAP47,SRP9,SUSD4,TLR5,TMEM63A,TP53BP2,TRIM11,TRIM17,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr12 232281478 232286494 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 223236914 223250002 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 23263602 23263694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 223271102 223283888 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 TLR5 chr1 223272520 223576299 Copy number loss Normal High-resolution SNP genotyping 21211785 C1orf65,SUSD4,TLR5 chr12 23277 27776 Copy number Autism exome sequencing 22495311 NOT_FOUND chr12 23284714 23449021 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 223315611 223315711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLR5 chr1 223323155 223323424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 223332689 223377696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 223340010 223351568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 23346616 23346716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 23349744 23349844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 223365693 223390532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 223372296 223413780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SUSD4 chr1 223372296 223413780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUSD4 chr12 23376393 26158915 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 BCAT1,C12orf77,CASC1,IFLTD1,KRAS,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,RASSF8,SOX5 chr1 223390043 223390143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2234086 2234156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SKI chr1 223411025 223411338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUSD4 chr1 223416964 223417064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUSD4 chr1 223427538 223427570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUSD4 chr1 223434724 223481979 Gain and loss Pancreatic cancer SNP array 17952125 SUSD4 chr12 23459482 23460482 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 23463738 27323538 Copy number Lung cancer paired-end sequencing 18438408 ASUN,BCAT1,BHLHE41,C12orf71,C12orf77,CASC1,FGFR1OP2,IFLTD1,ITPR2,KRAS,LINC00477,LOC100506451,LRMP,LYRM5,MED21,MIR4302,MIR920,RASSF8,SOX5,SSPN,TM7SF3 chr1 223484302 223812561 Gain and loss Pancreatic cancer SNP array 17952125 C1orf65,CAPN8,SUSD4 chr1 223493897 223493997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUSD4 chr1 223495119 223652370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf65,SUSD4 chr1 223495119 223652370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf65,SUSD4 chr12 23509583 23510499 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 23512264 23512609 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 23540259 23569819 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 223542624 223558195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 23543231 23699047 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 SOX5 chr1 223547790 223547888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 23556189 23556286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 23558556 29316364 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARNTL2,ASUN,BCAT1,BHLHE41,C12orf70,C12orf71,C12orf77,CASC1,CCDC91,FGFR1OP2,IFLTD1,ITPR2,KLHDC5,KRAS,LINC00477,LOC100506451,LRMP,LYRM5,MANSC4,MED21,MIR4302,MIR920,MRPS35,PPFIBP1,PTHLH,RASSF8,REP15,SOX5,SSPN,STK38L,TM7SF3 chr12 23561073 23563123 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 223563323 234670833 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ABCB10,ACBD3,ACTA1,ADCK3,AGT,ARF1,ARV1,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf65,C1orf95,CAPN2,CAPN8,CAPN9,CCSAP,CDC42BPA,CNIH3,CNIH4,COG2,DEGS1,DISC1,DISC2,DNAH14,DUSP5P,EGLN1,ENAH,EPHX1,EXOC8,FAM89A,FBXO28,GALNT2,GJC2,GNPAT,GUK1,H3F3A,H3F3AP4,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,LBR,LEFTY1,LEFTY2,LIN9,LINC00582,LOC100130093,LOC100506795,LOC149373,MIR1182,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4742,MIR5008,MIXL1,MRPL55,NTPCR,NUP133,NVL,OBSCN,PARP1,PCNXL2,PGBD5,PRSS38,PSEN2,PYCR2,RAB4A,RHOU,RNF187,SDE2,SIPA1L2,SLC35F3,SNAP47,SNRPD2P2,SPHAR,SPRTN,SRP9,TAF5L,TARBP1,TMEM63A,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr12 23576499 23993904 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOX5 chr12 23576499 23993904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX5 chr12 23576499 23993904 Gain and loss Pancreatic cancer SNP array 17952125 SOX5 chr12 23576499 23993904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX5 chr1 223594083 225234079 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-281K arrays 21546498 CAPN2,CAPN8,CNIH3,CNIH4,DEGS1,DNAH14,FBXO28,MIR320B2,MIR4742,NVL,TP53BP2,WDR26 chr12 23605703 24204836 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SOX5 chr12 23605703 26317438 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCAT1,BHLHE41,C12orf77,CASC1,IFLTD1,KRAS,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,RASSF8,SOX5 chr1 22361799 22362164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 23629264 23629315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 223636804 223636889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 223640697 223640781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 223648702 223648802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 223655827 223682407 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr1 223655828 223683142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 223655828 223683142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 223656383 223660925 Loss Normal 244K array 17666407 NOT_FOUND chr1 223667027 223668663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 223675990 223676090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 23685230 24715380 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 MIR920,SOX5 chr12 23685231 24715380 Duplication Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 MIR920,SOX5 chr12 23686993 23687305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX5 chr1 223688028 223834851 Duplication Normal Affymetrix 6.0 microarrays 20967226 CAPN8 chr1 223703136 224071068 Gain and loss Pancreatic cancer SNP array 17952125 CAPN2,CAPN8,TP53BP2 chr12 237052 266084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IQSEC3,LOC574538 chr1 223715001 223730500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPN8 chr1 223725840 223750819 Gain Normal Birdsuite, version 1.5.2 22087296 CAPN8 chr1 223731557 223870819 Duplication Rett syndrome References 21593744 CAPN8 chr1 223740096 223740422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAPN8 chr1 223741156 223907468 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CAPN2,CAPN8 chr1 223741157 223907468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPN2,CAPN8 chr1 223741157 223907468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN2,CAPN8 chr12 23822360 23823360 Loss Osteosarcoma References 21215367 SOX5 chr1 223828939 223829256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAPN8 chr12 23830789 23831355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX5 chr12 23830794 23831195 Gain Normal 244K array 17666407 SOX5 chr1 223876038 247249719 Deletion Cancer Affymetrix 250K Sty array 20164920 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AKT3,ARF1,ARID4B,ARV1,B3GALNT2,C1orf100,C1orf101,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf95,CAPN2,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DNAH14,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,ERO1LB,EXO1,EXOC8,FAM89A,FBXO28,FH,FMN2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HIST3H2A,HIST3H2BB,HIST3H3,HNRNPU,HNRNPU-AS1,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC731275,LYST,MAP1LC3C,MIR1182,MIR1537,MIR3123,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIXL1,MRPL55,MTR,NID1,NTPCR,NUP133,NVL,OBSCN,OPN3,PARP1,PCNXL2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RGS7,RHOU,RNF187,RPS7P5,RYR2,SCCPDH,SDCCAG8,SDE2,SIPA1L2,SLC35F3,SMYD3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,TAF5L,TARBP1,TBCE,TFB2M,TMEM63A,TOMM20,TP53BP2,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WDR64,WNT3A,WNT9A,ZNF238,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr1 223882075 223914854 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAPN2 chr1 22390000 22440000 Loss Acute lymphoblastic leukemia - 21339820 CDC42 chr12 23909631 23909731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX5 chr1 223928164 223929361 Gain and loss Pancreatic cancer SNP array 17952125 CAPN2 chr12 239401 32382344 Deletion Myelodysplastic syndrome - 21251322 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr1 22394648 22395163 Gain and loss Pancreatic cancer SNP array 17952125 CDC42 chr12 23952305 24129014 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SOX5 chr1 223964819 223965199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 223982374 223982971 Gain and loss Pancreatic cancer SNP array 17952125 TP53BP2 chr1 223983866 223983944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP53BP2 chr1 223987468 223989599 Gain and loss Pancreatic cancer SNP array 17952125 TP53BP2 chr1 223988182 223988292 Gain and loss Pancreatic cancer SNP array 17952125 TP53BP2 chr1 223995600 223995707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TP53BP2 chr1 224000597 224002725 Gain and loss Pancreatic cancer SNP array 17952125 TP53BP2 chr1 224001904 224002011 Gain and loss Pancreatic cancer SNP array 17952125 TP53BP2 chr12 24019747 24019878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX5 chr12 2402121 2587744 Copy number Lung cancer paired-end sequencing 18438408 CACNA1C chr1 224032154 224044788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TP53BP2 chr1 224032154 224044788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TP53BP2 chr12 24038064 24038148 Gain and loss Pancreatic cancer SNP array 17952125 SOX5 chr1 224045180 224045479 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224050251 224201000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 24055000 26685000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 BCAT1,BHLHE41,C12orf77,CASC1,IFLTD1,ITPR2,KRAS,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,MIR920,RASSF8,SOX5,SSPN chr1 224055617 224055736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224055617 224055738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224057473 224057778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224064459 224099884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224064459 224099884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 24068785 24113562 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SOX5 chr1 224069438 224069764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 224099863 224136671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224099863 224136671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224100000 236600000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCB10,ACBD3,ACTA1,ADCK3,AGT,ARF1,ARID4B,ARV1,B3GALNT2,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf95,CAPN9,CCSAP,CDC42BPA,CNIH3,CNIH4,COG2,DEGS1,DISC1,DISC2,DNAH14,DUSP5P,EDARADD,EGLN1,ENAH,EPHX1,ERO1LB,EXOC8,FAM89A,FBXO28,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GUK1,H3F3A,H3F3AP4,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,LBR,LEFTY1,LEFTY2,LIN9,LINC00184,LINC00582,LOC100130093,LOC100506795,LOC100506810,LOC149373,LYST,MIR1182,MIR1537,MIR320B2,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4742,MIR4753,MIR5008,MIXL1,MRPL55,NID1,NTPCR,NUP133,NVL,OBSCN,PARP1,PCNXL2,PGBD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RHOU,RNF187,SDE2,SIPA1L2,SLC35F3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,TAF5L,TARBP1,TBCE,TMEM63A,TOMM20,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr1 224100000 249250621 Gain Cancer Array CGH 17060936 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AKT3,ARF1,ARID4B,ARV1,B3GALNT2,C1orf100,C1orf101,C1orf131,C1orf145,C1orf198,C1orf229,C1orf31,C1orf35,C1orf95,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DNAH14,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,ERO1LB,EXO1,EXOC8,FAM89A,FBXO28,FH,FMN2,GALNT2,GCSAML,GCSAML-AS1,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HIST3H2A,HIST3H2BB,HIST3H3,HNRNPU,HNRNPU-AS1,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC731275,LYPD8,LYST,MAP1LC3C,MIR1182,MIR1537,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3916,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIXL1,MRPL55,MTR,NID1,NLRP3,NTPCR,NUP133,NVL,OBSCN,OPN3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PARP1,PCNXL2,PGBD2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RGS7,RHOU,RNF187,RPS7P5,RYR2,SCCPDH,SDCCAG8,SDE2,SH3BP5L,SIPA1L2,SLC35F3,SMYD3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,TAF5L,TARBP1,TBCE,TFB2M,TMEM63A,TOMM20,TRIM11,TRIM17,TRIM58,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,VN1R5,WDR26,WDR64,WNT3A,WNT9A,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr1 224100000 249250621 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AKT3,ARF1,ARID4B,ARV1,B3GALNT2,C1orf100,C1orf101,C1orf131,C1orf145,C1orf198,C1orf229,C1orf31,C1orf35,C1orf95,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNIH3,CNIH4,CNST,COG2,COX20,DEGS1,DESI2,DISC1,DISC2,DNAH14,DUSP5P,EDARADD,EFCAB2,EGLN1,ENAH,EPHX1,ERO1LB,EXO1,EXOC8,FAM89A,FBXO28,FH,FMN2,GALNT2,GCSAML,GCSAML-AS1,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HIST3H2A,HIST3H2BB,HIST3H3,HNRNPU,HNRNPU-AS1,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KIF26B,KMO,LBR,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC731275,LYPD8,LYST,MAP1LC3C,MIR1182,MIR1537,MIR3123,MIR3124,MIR320B2,MIR3620,MIR3916,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4742,MIR4753,MIR5008,MIXL1,MRPL55,MTR,NID1,NLRP3,NTPCR,NUP133,NVL,OBSCN,OPN3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PARP1,PCNXL2,PGBD2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RGS7,RHOU,RNF187,RPS7P5,RYR2,SCCPDH,SDCCAG8,SDE2,SH3BP5L,SIPA1L2,SLC35F3,SMYD3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,TAF5L,TARBP1,TBCE,TFB2M,TMEM63A,TOMM20,TRIM11,TRIM17,TRIM58,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,VN1R5,WDR26,WDR64,WNT3A,WNT9A,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF678,ZNF692,ZNF695,ZNF847P,ZP4 chr12 24100724 24946002 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 LINC00477,MIR920,SOX5 chr1 224110806 224111244 Gain Ewing's sarcoma Array CGH 19144156 NOT_FOUND chr1 224140606 224143469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224140606 224143469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224145428 224150264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224155674 224156896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 24168059 24695697 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MIR920,SOX5 chr1 224174201 224178622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224174201 224178622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 24174489 24212148 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SOX5 chr12 24174489 24212148 Copy number gain Normal High-resolution SNP genotyping 21211785 SOX5 chr1 224186015 224186340 Loss Normal 244K array 17666407 NOT_FOUND chr1 224186851 225112944 Gain Normal 244K array 17666407 CNIH3,CNIH4,DEGS1,FBXO28,MIR320B2,MIR4742,NVL,WDR26 chr1 224190927 224195543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224190927 224195543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224191985 224192143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224218504 224218757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224218504 224218757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224225670 224229847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224229432 224275661 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224237029 224253689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224237029 224253689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224241238 224241439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2242556 2346079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100129534,MORN1,PEX10,RER1 chr1 2242556 2346079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100129534,MORN1,PEX10,RER1 chr1 2242556 2346079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100129534,MORN1,PEX10,RER1 chr12 24256622 24256696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX5 chr12 2430860 2430960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr1 224310153 224340906 Gain and loss Pancreatic cancer SNP array 17952125 FBXO28 chr1 224316175 224326325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO28 chr1 224316175 224326325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO28 chr12 24328373 24478052 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR920,SOX5 chr12 24333642 24333955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX5 chr12 24351674 24351963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX5 chr1 224353010 225571533 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-286K arrays 21546498 CNIH3,CNIH4,DEGS1,DNAH14,MIR320B2,MIR4742,NVL,WDR26 chr1 224364001 224391000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DEGS1 chr1 224371126 224371201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DEGS1 chr1 224399005 224441046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NVL chr1 224399005 224441046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NVL chr12 24402326 24402426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX5 chr1 224413180 224417019 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NVL chr1 224415954 224442334 Gain and loss Pancreatic cancer SNP array 17952125 NVL chr12 24420618 24450987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SOX5 chr12 24442239 24442389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX5 chr1 224443197 224443545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NVL chr12 24455241 24455341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX5 chr1 224462134 224468803 Gain and loss Pancreatic cancer SNP array 17952125 NVL chr1 224477942 224480189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NVL chr1 224477942 224480189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NVL chr1 224485481 224564193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNIH4,NVL chr1 224485481 224564193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNIH4,NVL chr1 224501487 224555696 Gain and loss Pancreatic cancer SNP array 17952125 CNIH4,NVL chr12 24519700 24882491 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00477,SOX5 chr1 224527482 224527527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 224528503 224528650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 24543120 25421431 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 BCAT1,C12orf77,CASC1,KRAS,LINC00477,LRMP,LYRM5,SOX5 chr1 224545941 224546066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNIH4 chr1 224558587 224558686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNIH4 chr1 224570167 224570790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224570387 224570488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224572339 224573017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR26 chr12 24575181 24614688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SOX5 chr1 224577096 224593645 Gain and loss Pancreatic cancer SNP array 17952125 MIR4742,WDR26 chr1 224595169 224599847 Gain and loss Pancreatic cancer SNP array 17952125 WDR26 chr1 224600000 236600000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABCB10,ACBD3,ACTA1,ADCK3,AGT,ARF1,ARID4B,ARV1,B3GALNT2,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf95,CAPN9,CCSAP,CDC42BPA,CNIH3,COG2,DISC1,DISC2,DNAH14,DUSP5P,EDARADD,EGLN1,ENAH,EPHX1,ERO1LB,EXOC8,FAM89A,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GUK1,H3F3A,H3F3AP4,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,LBR,LEFTY1,LEFTY2,LIN9,LINC00184,LINC00582,LOC100130093,LOC100506795,LOC100506810,LOC149373,LYST,MIR1182,MIR1537,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4753,MIR5008,MIXL1,MRPL55,NID1,NTPCR,NUP133,OBSCN,PARP1,PCNXL2,PGBD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RHOU,RNF187,SDE2,SIPA1L2,SLC35F3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,TAF5L,TARBP1,TBCE,TMEM63A,TOMM20,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR26,WNT3A,WNT9A,ZNF678,ZNF847P chr12 24601088 24601188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX5 chr1 224601116 224603739 Gain and loss Pancreatic cancer SNP array 17952125 WDR26 chr1 22460870 22481227 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WNT4 chr1 224610628 224610678 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDR26 chr12 24611165 24628369 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOX5 chr12 24611165 24628369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX5 chr12 24611165 24628369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX5 chr12 24611898 24611988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX5 chr1 224615014 224662424 Copy number Lung cancer - 20668451 WDR26 chr1 224615014 224662424 Gain or loss Breast cancer - 20668451 WDR26 chr1 224615014 224662424 Gain or loss Cancer - 20668451 WDR26 chr1 224615014 224662424 Gain or loss Lung cancer - 20668451 WDR26 chr1 224615014 224662424 Gain or loss Ovarian cancer - 20668451 WDR26 chr1 224615014 224662424 Gain or loss Pancreas cancer - 20668451 WDR26 chr1 224615014 224662424 Gain or loss Prostate cancer - 20668451 WDR26 chr1 224615784 224662399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR26 chr1 224621231 224647697 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WDR26 chr1 224621231 224652139 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WDR26 chr12 24623294 24623361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX5 chr12 24627820 24628320 Gain and loss Pancreatic cancer SNP array 17952125 SOX5 chr1 224634726 224643377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224641867 224641967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 224644288 224654260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224660253 224669949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 24670758 26597144 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCAT1,BHLHE41,C12orf77,CASC1,IFLTD1,ITPR2,KRAS,LINC00477,LOC100506451,LRMP,LYRM5,MIR4302,RASSF8,SOX5,SSPN chr1 224679311 224679518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 224679751 224679917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224681171 224681344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224692888 224693668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224692888 224693668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224697943 224708096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224700261 224700578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 224702589 224855686 Gain and loss Pancreatic cancer SNP array 17952125 CNIH3 chr12 2470780 2470984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNA1C chr1 224747518 224749745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 24749879 24776972 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 24750989 24751277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 24750989 24751281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 24750989 24751284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 2475991 2476088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr12 247757 255095 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IQSEC3,LOC574538 chr12 247758 255090 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IQSEC3,LOC574538 chr12 247848 255068 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IQSEC3,LOC574538 chr1 224794162 224794198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 224802501 224883500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNIH3 chr1 224803124 224856364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNIH3 chr1 224803654 224803727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 2481037 2481137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr1 224811106 224811176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNIH3 chr1 224829200 225006462 Gain and loss Pancreatic cancer SNP array 17952125 CNIH3 chr12 24832190 24832891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 24851066 24851166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 24855545 24993499 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCAT1 chr12 24855545 24993499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAT1 chr12 24855545 24993499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAT1 chr12 24855545 24993575 Gain or loss Breast cancer - 20668451 BCAT1 chr12 24855545 24993575 Gain or loss Cancer - 20668451 BCAT1 chr12 24855545 24993575 Gain or loss Lung cancer - 20668451 BCAT1 chr12 24855545 24993575 Gain or loss Ovarian cancer - 20668451 BCAT1 chr12 24855545 24993575 Gain or loss Pancreas cancer - 20668451 BCAT1 chr12 24855545 24993575 Gain or loss Prostate cancer - 20668451 BCAT1 chr12 24855562 24993499 Gain and loss Pancreatic cancer SNP array 17952125 BCAT1 chr12 24856724 24857164 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 224857883 233411748 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-274K arrays 21546498 ABCB10,ACBD3,ACTA1,ADCK3,AGT,ARF1,ARV1,C1orf131,C1orf145,C1orf198,C1orf35,C1orf95,CAPN9,CCSAP,CDC42BPA,CNIH3,COG2,DISC1,DISC2,DNAH14,DUSP5P,EGLN1,ENAH,EPHX1,EXOC8,FAM89A,GALNT2,GJC2,GNPAT,GUK1,H3F3A,H3F3AP4,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,KIAA1383,LBR,LEFTY1,LEFTY2,LIN9,LINC00582,LOC100130093,LOC149373,MIR1182,MIR3620,MIR4666A,MIR5008,MIXL1,MRPL55,NTPCR,NUP133,OBSCN,PARP1,PCNXL2,PGBD5,PRSS38,PSEN2,PYCR2,RAB4A,RHOU,RNF187,SDE2,SIPA1L2,SNAP47,SNRPD2P2,SPHAR,SPRTN,SRP9,TAF5L,TMEM63A,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WNT3A,WNT9A,ZNF678,ZNF847P chr1 22486001 22749000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 224863571 224873310 Gain and loss Pancreatic cancer SNP array 17952125 CNIH3 chr12 2487688 2522667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr1 224883501 224914500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNIH3 chr1 224886016 224993647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNIH3 chr1 224886016 224993647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNIH3 chr1 224888114 224901252 Gain and loss Pancreatic cancer SNP array 17952125 CNIH3 chr12 24895604 24895677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 248989 255352 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IQSEC3,LOC574538 chr1 224902475 224911083 Gain and loss Pancreatic cancer SNP array 17952125 CNIH3 chr12 24904655 24904755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 224907763 224907863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNIH3 chr1 224914501 224990000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNIH3 chr1 224919351 224919761 Gain and loss Pancreatic cancer SNP array 17952125 CNIH3 chr12 24939104 24954110 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 24946510 24948882 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 224951861 224952253 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224952543 224954906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 24955145 24955205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 224958649 224959030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 224968289 226567541 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACBD3,DNAH14,ENAH,EPHX1,H3F3A,H3F3AP4,LBR,LEFTY1,LEFTY2,LIN9,MIXL1,PARP1,PYCR2,SDE2,SRP9,TMEM63A chr1 224981823 224989409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 24990000 25780000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 BCAT1,C12orf77,CASC1,IFLTD1,KRAS,LRMP,LYRM5 chr1 224990001 224993000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 24991089 25698435 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.27 20877625 BCAT1,C12orf77,CASC1,IFLTD1,KRAS,LRMP,LYRM5 chr12 25011328 25011705 Gain and loss Pancreatic cancer SNP array 17952125 BCAT1 chr12 25011328 25011705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAT1 chr1 225035825 225036065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225050229 225050337 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225050229 225050339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25052182 25052272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAT1 chr1 225052750 225052868 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225054991 225055109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225057232 225057350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225059473 225059591 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25059809 25394729 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 BCAT1,C12orf77,CASC1,KRAS,LRMP,LYRM5 chr1 225061714 225061832 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225063929 225064047 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225064411 225065318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 225066147 225066267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225066149 225066267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225068389 225068509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225068391 225068509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225070628 225070748 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225070630 225070748 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225072870 225072990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225072872 225072990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225075111 225075231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225075113 225075231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225077351 225077471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225077353 225077471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225079576 225079696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225079578 225079696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225081817 225081937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225081819 225081937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225082920 225094894 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225084048 225084168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225084050 225084168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225086289 225086409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225086291 225086409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225088520 225088640 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225088522 225088640 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225090393 225090514 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225094918 225095042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25096508 25152535 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCAT1,C12orf77 chr12 25096508 25152535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAT1,C12orf77 chr12 25096508 25152535 Gain and loss Pancreatic cancer SNP array 17952125 BCAT1,C12orf77 chr12 25096508 25152535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAT1,C12orf77 chr12 25098108 25098326 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCAT1 chr12 25098108 25098326 Gain and loss Pancreatic cancer SNP array 17952125 BCAT1 chr12 25098108 25098326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAT1 chr1 225100000 228800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACBD3,ADCK3,ARF1,C1orf145,C1orf35,C1orf95,CDC42BPA,DNAH14,DUSP5P,ENAH,EPHX1,GJC2,GUK1,H3F3A,H3F3AP4,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,LBR,LEFTY1,LEFTY2,LIN9,LOC100130093,MIR3620,MIR4666A,MIR5008,MIXL1,MRPL55,OBSCN,PARP1,PRSS38,PSEN2,PYCR2,RHOU,RNF187,SDE2,SNAP47,SRP9,TMEM63A,TRIM11,TRIM17,WNT3A,WNT9A,ZNF678,ZNF847P chr1 225100000 228800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACBD3,ADCK3,ARF1,C1orf145,C1orf35,C1orf95,CDC42BPA,DNAH14,DUSP5P,ENAH,EPHX1,GJC2,GUK1,H3F3A,H3F3AP4,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,LBR,LEFTY1,LEFTY2,LIN9,LOC100130093,MIR3620,MIR4666A,MIR5008,MIXL1,MRPL55,OBSCN,PARP1,PRSS38,PSEN2,PYCR2,RHOU,RNF187,SDE2,SNAP47,SRP9,TMEM63A,TRIM11,TRIM17,WNT3A,WNT9A,ZNF678,ZNF847P chr12 25122412 26386677 LOH Normal High-resolution SNP genotyping 21211785 BHLHE41,C12orf77,CASC1,IFLTD1,KRAS,LOC100506451,LRMP,LYRM5,MIR4302,RASSF8,SSPN chr1 225124895 225150427 Copy number Lung cancer - 20668451 DNAH14 chr1 225124895 225150427 Gain or loss Breast cancer - 20668451 DNAH14 chr1 225124895 225150427 Gain or loss Cancer - 20668451 DNAH14 chr1 225124895 225150427 Gain or loss Lung cancer - 20668451 DNAH14 chr1 225124895 225150427 Gain or loss Ovarian cancer - 20668451 DNAH14 chr1 225124895 225150427 Gain or loss Pancreas cancer - 20668451 DNAH14 chr1 225124895 225150427 Gain or loss Prostate cancer - 20668451 DNAH14 chr1 225124896 225150429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr1 225124896 225150429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr1 225129899 225130309 Gain and loss Pancreatic cancer SNP array 17952125 DNAH14 chr12 25130000 25525000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 C12orf77,CASC1,KRAS,LRMP,LYRM5 chr12 25130000 25525000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 C12orf77,CASC1,KRAS,LRMP,LYRM5 chr1 225139501 225150000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH14 chr12 25140131 25239361 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C12orf77,LRMP chr12 25140131 25239361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf77,LRMP chr12 25140131 25239361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf77,LRMP chr12 25141719 25143444 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 225150001 225214500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH14 chr1 225151212 225153888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr1 225151212 225153888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr12 2515173 2515273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr1 225151860 225241869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr1 225151860 225241869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr12 25152468 25152553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 25152501 25239361 Gain and loss Pancreatic cancer SNP array 17952125 LRMP chr12 25176687 25177145 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 225177603 225189144 Gain and loss Pancreatic cancer SNP array 17952125 DNAH14 chr1 225181646 225181746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH14 chr12 25189655 25352305 Amplification Cancer Affymetrix 250K Sty array 20164920 CASC1,LRMP,LYRM5 chr1 225212393 225212591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr12 25213920 25336398 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 CASC1,LRMP chr1 225214501 225220500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH14 chr1 22521929 22522411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225220501 225233500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH14 chr1 225233501 225240000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH14 chr1 22523656 22600286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25238074 25260715 Gain and loss Pancreatic cancer SNP array 17952125 LRMP chr12 25239417 25249215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRMP chr12 25239417 25249215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRMP chr12 25239473 25250293 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRMP chr1 225240001 225243000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH14 chr1 225244190 225572449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr1 225244190 225572449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr12 25249446 25295130 Amplification Adenocarcinoma FISH 19001599 CASC1,LRMP chr12 25249446 25295130 Amplification Non-small cell lung cancer FISH 19001599 CASC1,LRMP chr12 25249446 25295130 Amplification Pancreatic cancer Genome Analyser II,MAQ algorithm 20981101 CASC1,LRMP chr12 25249446 25295130 Amplification Squamous cell cancer FISH 19001599 CASC1,LRMP chr12 25249446 25295130 Copy number Acute lymphoblastic leukemia Affymetrix Genome-Wide Human SNP Array 6.0 21680795 CASC1,LRMP chr12 25249446 25295130 Copy number Lung adenocarcinoma FISH assay 18379350 CASC1,LRMP chr12 25249446 25295130 Copy number Lung cancer - 20668451 CASC1,LRMP chr12 25249446 25295130 Copy number Lung cancer FISH assay 18379350 CASC1,LRMP chr12 25249446 25295130 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 CASC1,LRMP chr12 25249446 25295130 Gain or loss Breast cancer - 20668451 CASC1,LRMP chr12 25249446 25295130 Gain or loss Cancer - 20668451 CASC1,LRMP chr12 25249446 25295130 Gain or loss Lung cancer - 20668451 CASC1,LRMP chr12 25249446 25295130 Gain or loss Ovarian cancer - 20668451 CASC1,LRMP chr12 25249446 25295130 Gain or loss Pancreas cancer - 20668451 CASC1,LRMP chr12 25249446 25295130 Gain or loss Prostate cancer - 20668451 CASC1,LRMP chr12 25249447 25295121 Gain and loss Pancreatic cancer SNP array 17952125 CASC1,LRMP chr12 25249447 25295121 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 CASC1,LRMP chr12 25249449 25295121 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CASC1,LRMP chr12 25249449 25295121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASC1,LRMP chr12 25249449 25295121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASC1,LRMP chr1 225251240 225251340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH14 chr1 225256 167524929 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACP6,ACTG1P4,ACTL8,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD65,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,AQP10,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARNT,ARTN,ASAP3,ASB17,ASH1L,ASH1L-AS1,ATAD3A,ATAD3B,ATAD3C,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf110,C1orf111,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf200,C1orf204,C1orf210,C1orf212,C1orf213,C1orf216,C1orf226,C1orf228,C1orf233,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf68,C1orf85,C1orf86,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CA6,CACHD1,CADM3,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD52,CD53,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42SE1,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CEP104,CEP85,CEPT1,CERS2,CGN,CHD1L,CHD5,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,CPSF3L,CPT2,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DBT,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DUSP12,DUSP23,DUSP27,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,ETV3,ETV3L,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM91A2,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FMO5,FMO9P,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABPB2,GABRD,GADD45A,GALE,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GPA33,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,ICMT,ID3,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IGSF8,IGSF9,IL12RB2,IL22RA1,IL23R,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG15,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KIRREL,KLF17,KLHDC7A,KLHDC9,KLHL17,KLHL21,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMO4,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130000,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132062,LOC100132111,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100286793,LOC100288069,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC388692,LOC400752,LOC400794,LOC402779,LOC440563,LOC440600,LOC440700,LOC643355,LOC643441,LOC643837,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYSMD1,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,MEX3A,MFAP2,MFN2,MFSD2A,MGC27382,MGST3,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4654,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MMP23A,MMP23B,MNDA,MOB3C,MORN1,MOV10,MPL,MPZ,MRPL20,MRPL24,MRPL37,MRPL9,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTX1,MUC1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NMNAT1,NOC2L,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDC,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR4F16,OR4F29,OR4F3,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR6,PAQR7,PARK7,PARS2,PAX7,PBX1,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX10,PEX11B,PEX14,PEX19,PFDN2,PFN1P2,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGM,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLEKHO1,PLK3,PLOD1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRKAA2,PRKAB2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RFX5,RGS4,RGS5,RHBDL2,RHBG,RHCE,RHD,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNF11,RNF115,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA4,SCMH1,SCNM1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SDHC,SEC22B,SELENBP1,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKI,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC39A1,SLC44A3,SLC44A5,SLC45A1,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMIM1,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPSB1,SPTA1,SRG7,SRGAP2B,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SUMO1P3,SV2A,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAGLN2,TAL1,TARDBP,TARS2,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMEM82,TMEM88B,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TOMM40L,TP73,TP73-AS1,TPM3,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2J2,UBE2Q1,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,UROD,USF1,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,YY1AP1,ZBTB17,ZBTB40,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr12 25278035 25295130 Amplification or deletion Cancer Array CGH 17440070 CASC1 chr1 225289990 225409421 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAH14 chr12 25317531 25883393 LOH Normal High-resolution SNP genotyping 21211785 CASC1,IFLTD1,KRAS,LYRM5 chr12 2532561 2554286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1C chr12 25341655 25341755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASC1 chr1 225345899 225345999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH14 chr12 25350047 25383158 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRAS,LYRM5 chr12 25358179 25403863 Amplification Endometrial cancer GISTIC software 19261849 KRAS chr12 25358179 25403863 Amplification Gastric adenocarcinoma aCGH 22014070 KRAS chr12 25374712 25374796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRAS chr1 225393578 225393678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH14 chr12 2539938 2540028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr12 25419601 25419701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 25421431 26150226 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 IFLTD1,LOC100506451,MIR4302,RASSF8 chr1 225427694 225427793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH14 chr1 22543274 22543374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 25448486 25448629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25448489 25448629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25448489 25448629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 25462966 25463052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 25485093 25485170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25485093 25485170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225488593 225489679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr12 254947 259521 Copy number Autism exome sequencing 22495311 IQSEC3,LOC574538 chr1 22551761 22596771 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 225518523 225519531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH14 chr1 225518677 225518967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH14 chr12 25520283 25597445 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 25520283 25597445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 25520283 25597445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25520283 25597445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225521 730720 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 chr1 225521 747320 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 chr1 225529579 225548901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH14 chr12 25545712 25559442 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 225548888 225549205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH14 chr12 25559501 25563300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 25566242 25568307 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 25623168 27128352 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ASUN,BHLHE41,FGFR1OP2,IFLTD1,ITPR2,LOC100506451,MIR4302,RASSF8,SSPN,TM7SF3 chr1 225624050 225624136 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225640413 225640501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 25647507 25647593 Gain and loss Pancreatic cancer SNP array 17952125 IFLTD1 chr12 25647507 25647593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFLTD1 chr1 225664941 225665643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225684850 225685300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225688388 225688670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225692118 225694292 Gain and loss Pancreatic cancer SNP array 17952125 ENAH chr1 225713406 225714081 Gain and loss Pancreatic cancer SNP array 17952125 ENAH chr1 225713614 225747983 Gain and loss Pancreatic cancer SNP array 17952125 ENAH chr12 2571540 2571640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr12 25720801 25720964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFLTD1 chr1 225736577 225736778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr12 2574262 3638525 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CACNA1C,CACNA1C-AS1,FKBP4,FOXM1,ITFG2,LOC100507424,LOC283440,NRIP2,PRMT8,RHNO1,TEAD4,TSPAN9,TULP3 chr1 225744501 225765500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENAH chr1 225747353 225749466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225748070 225748180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225748076 225748180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225760506 225762616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225761792 225761893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225761792 225761899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225763498 225785470 Gain and loss Pancreatic cancer SNP array 17952125 ENAH chr12 2577408 2577487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr12 25775838 25775938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFLTD1 chr1 22577814 22622870 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 225783079 225783179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENAH chr1 225794501 225801500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENAH chr1 225815505 225815624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225817867 225910753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr1 225817867 225910753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENAH chr12 25823373 25823473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 25823473 25823770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 25823543 25823770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25823543 25823770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225825610 225825670 Gain and loss Pancreatic cancer SNP array 17952125 ENAH chr1 225839428 225839528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENAH chr12 25847404 25847808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225852751 225853418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225853066 225853250 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 25873708 26586394 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BHLHE41,ITPR2,LOC100506451,MIR4302,RASSF8,SSPN chr1 225873730 225876580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 22587900 22587979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 25883598 26052383 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4302 chr1 225883779 225950823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225894336 225894436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 225900000 247200000 Duplication abnormal development HR-CGH, Array-CGH 18461090 ABCB10,ACBD3,ACTA1,ACTN2,ADCK3,ADSS,AGT,AHCTF1,AKT3,ARF1,ARID4B,ARV1,B3GALNT2,C1orf100,C1orf101,C1orf131,C1orf145,C1orf198,C1orf31,C1orf35,C1orf95,CAPN9,CCSAP,CDC42BPA,CEP170,CHML,CHRM3,CNST,COG2,COX20,DESI2,DISC1,DISC2,DUSP5P,EDARADD,EFCAB2,EGLN1,EPHX1,ERO1LB,EXO1,EXOC8,FAM89A,FH,FMN2,GALNT2,GGPS1,GJC2,GNG4,GNPAT,GPR137B,GREM2,GUK1,H3F3A,H3F3AP4,HEATR1,HIST3H2A,HIST3H2BB,HIST3H3,HNRNPU,HNRNPU-AS1,IBA57,IRF2BP2,ITPKB,JMJD4,KCNK1,KIAA1383,KIAA1804,KIF26B,KMO,LEFTY1,LEFTY2,LGALS8,LGALS8-AS1,LIN9,LINC00184,LINC00582,LOC100130093,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC149373,LOC255654,LOC339529,LOC339535,LOC731275,LYST,MAP1LC3C,MIR1182,MIR1537,MIR3123,MIR3620,MIR4427,MIR4666A,MIR4671,MIR4677,MIR4753,MIR5008,MIXL1,MRPL55,MTR,NID1,NTPCR,NUP133,OBSCN,OPN3,PARP1,PCNXL2,PGBD5,PLD5,PRSS38,PSEN2,PYCR2,RAB4A,RBM34,RGS7,RHOU,RNF187,RPS7P5,RYR2,SCCPDH,SDCCAG8,SDE2,SIPA1L2,SLC35F3,SMYD3,SNAP47,SNORA14B,SNRPD2P2,SPHAR,SPRTN,SRP9,TAF5L,TARBP1,TBCE,TFB2M,TMEM63A,TOMM20,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WDR64,WNT3A,WNT9A,ZNF238,ZNF670,ZNF670-ZNF695,ZNF678,ZNF695,ZNF847P,ZP4 chr12 259484 368881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IQSEC3,SLC6A12,SLC6A13 chr12 259484 368881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQSEC3,SLC6A12,SLC6A13 chr12 259484 368881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQSEC3,SLC6A12,SLC6A13 chr1 225951214 225961014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225951214 225961014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225955083 225955183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 225959065 226001177 Gain and loss Pancreatic cancer SNP array 17952125 EPHX1,SRP9 chr1 225968319 225968419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRP9 chr1 225975384 225975473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRP9 chr1 225977538 225977671 Gain and loss Pancreatic cancer SNP array 17952125 SRP9 chr1 225977548 225977671 Gain and loss Pancreatic cancer SNP array 17952125 SRP9 chr1 225982872 226035550 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 EPHX1,TMEM63A chr1 225982981 226035550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHX1,TMEM63A chr1 225982981 226035550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHX1,TMEM63A chr1 225983001 225988500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 225985549 225989735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225985549 225989735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225985557 225989735 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 225987993 225988333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 225988501 226047000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPHX1,TMEM63A chr1 225992387 225992504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225992387 225992506 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 225996199 225996431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 26003229 26124091 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100506451,MIR4302,RASSF8 chr12 26003229 26124091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506451,MIR4302,RASSF8 chr12 26003229 26124091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506451,MIR4302,RASSF8 chr12 26003258 26123273 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506451,MIR4302,RASSF8 chr1 226004050 226004118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPHX1 chr1 22601217 22601282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 2602058 3452261 Copy number Lung cancer paired-end sequencing 18438408 CACNA1C,CACNA1C-AS1,FKBP4,FOXM1,ITFG2,LOC100507424,LOC283440,NRIP2,RHNO1,TEAD4,TSPAN9,TULP3 chr12 26024233 26045148 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR4302 chr12 26026538 26045148 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR4302 chr12 26031904 26045148 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 226035603 226068460 Gain and loss Pancreatic cancer SNP array 17952125 TMEM63A chr1 226047001 226053000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM63A chr1 226053001 226098500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LEFTY1,TMEM63A chr1 226068716 226102681 Gain and loss Pancreatic cancer SNP array 17952125 LEFTY1,TMEM63A chr1 226069969 226100751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LEFTY1,TMEM63A chr1 226069969 226100751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEFTY1,TMEM63A chr1 226089101 226092600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 226090717 226091028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 226095476 226095576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 226098501 226100500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 226100501 226137500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LEFTY2,PYCR2 chr1 226106418 226136455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LEFTY2,PYCR2 chr1 226114068 226131604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LEFTY2 chr1 226115030 226137924 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LEFTY2 chr1 22611786 103345254 Copy number Lung cancer paired-end sequencing 18438408 ABCA4,ABCD3,ACADM,ACOT11,ADC,ADPRHL2,AGBL4,AGL,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKR1A1,ALG14,ALG6,ANGPTL3,ANKRD13C,ARHGAP29,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf87,C1orf94,C8A,C8B,CACHD1,CAP1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD164L2,CD52,CDC14A,CDC20,CDC7,CDCA8,CDCP2,CDKN2C,CEP85,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLDN19,CLIC4,CLSPN,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRYZ,CSF3R,CSMD2,CTBS,CTH,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DDAH1,DEM1,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,E2F2,EBNA1BP2,ECHDC2,EDN2,EFCAB7,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,ELTD1,EPB41,EPHA10,EPHA8,EPHB2,EPHX4,EPS15,ERI3,ERMAP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM110D,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FCN3,FGGY,FGR,FHL3,FLJ27354,FLJ31662,FNBP1L,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR3,GPR88,GPX7,GRHL3,GRIK3,GTF2B,GUCA2A,GUCA2B,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HFM1,HHLA3,HIAT1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPR,HOOK1,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HTR1D,HYI,ID3,IFI44,IFI44L,IFI6,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1522,KIF2C,KLF17,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100505768,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339524,LOC400752,LOC402779,LOC644961,LOC646471,LOC646626,LOC653160,LOC728431,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,MACF1,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFSD2A,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3605,MIR3659,MIR3671,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4420,MIR4422,MIR4423,MIR4684,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MSH4,MTF1,MTF2,MTMR9LP,MUTYH,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NCDN,NCMAP,NDUFS5,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,ODF2L,OLFM3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PAFAH2,PALMD,PAQR7,PARS2,PCSK9,PDE4B,PDIK1L,PDZK1IP1,PDZK1IP1-AS1,PEF1,PGM1,PHACTR4,PHC2,PIGK,PIGV,PIK3R3,PIN1P1,PITHD1,PKN2,PLK3,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PRDX1,PRKAA2,PRKACB,PRPF38A,PSMB2,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAVER2,RBBP4,RBMXL1,RCAN3,RCAN3AS,RCC1,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF19B,RNF220,RNU11,RNU6-6,ROR1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SASS6,SCARNA1,SCMH1,SCP2,SDC3,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH3BGRL3,SH3D21,SH3GLB1,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SPATA6,SPOCD1,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYDE2,SYF2,SYNC,SYTL1,SZT2,TACSTD2,TAF12,TAL1,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMED5,TMEM125,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC39A,TTC4,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBXN11,UOX,UQCRH,UROD,USP1,USP24,USP33,UTP11L,VCAM1,WASF2,WDR63,WDR65,WDR78,WDTC1,WLS,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 226131479 226132386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 226137501 226160750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 26137975 26151126 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RASSF8 chr12 26150226 27452305 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ASUN,BHLHE41,C12orf71,FGFR1OP2,ITPR2,MED21,RASSF8,SSPN,STK38L,TM7SF3 chr1 226160751 226168000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 26164225 26169113 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RASSF8 chr12 26164228 26169113 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RASSF8 chr12 26164228 26169113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASSF8 chr12 26164228 26169113 Gain and loss Pancreatic cancer SNP array 17952125 RASSF8 chr12 26164228 26169113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASSF8 chr1 226168001 226182000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDE2 chr1 226175319 226202222 Gain or loss Breast cancer - 20668451 SDE2 chr1 226175319 226202222 Gain or loss Cancer - 20668451 SDE2 chr1 226175319 226202222 Gain or loss Lung cancer - 20668451 SDE2 chr1 226175319 226202222 Gain or loss Ovarian cancer - 20668451 SDE2 chr1 226175319 226202222 Gain or loss Pancreas cancer - 20668451 SDE2 chr1 226175319 226202222 Gain or loss Prostate cancer - 20668451 SDE2 chr1 226175320 226202222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDE2 chr1 226175320 226202222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDE2 chr1 226182001 226193500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDE2 chr12 26187859 27252626 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ASUN,BHLHE41,C12orf71,FGFR1OP2,ITPR2,MED21,RASSF8,SSPN,TM7SF3 chr1 226193501 226205000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 26194754 26194823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RASSF8 chr1 226205001 226258500 Copy number Normal ReadDepth: A Parallel R Package 21305028 H3F3A,H3F3AP4 chr1 226216439 226567541 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACBD3,H3F3A,H3F3AP4,LIN9,MIXL1,PARP1 chr12 26219675 26219775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASSF8 chr12 26221558 26266453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RASSF8 chr1 226229669 226232489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 26233297 26233397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 26239789 26277134 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BHLHE41 chr12 26239789 26277134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BHLHE41 chr12 26239789 26277134 Gain and loss Pancreatic cancer SNP array 17952125 BHLHE41 chr12 26239789 26277134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BHLHE41 chr1 226258501 226273500 Copy number Normal ReadDepth: A Parallel R Package 21305028 H3F3A,H3F3AP4 chr1 226261375 226315584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226261375 226315584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 26266526 26266626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 226273501 226291000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 226291001 226294500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 226294501 226313000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 26300000 27700000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ARNTL2,ASUN,C12orf70,C12orf71,FGFR1OP2,ITPR2,MED21,PPFIBP1,SSPN,STK38L,TM7SF3 chr12 26300000 27700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARNTL2,ASUN,C12orf70,C12orf71,FGFR1OP2,ITPR2,MED21,PPFIBP1,SSPN,STK38L,TM7SF3 chr12 26300000 27700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARNTL2,ASUN,C12orf70,C12orf71,FGFR1OP2,ITPR2,MED21,PPFIBP1,SSPN,STK38L,TM7SF3 chr12 26300000 27700000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 ARNTL2,ASUN,C12orf70,C12orf71,FGFR1OP2,ITPR2,MED21,PPFIBP1,SSPN,STK38L,TM7SF3 chr12 26300000 27700000 Gain Barrett's adenocarcinoma FISH 18663352 ARNTL2,ASUN,C12orf70,C12orf71,FGFR1OP2,ITPR2,MED21,PPFIBP1,SSPN,STK38L,TM7SF3 chr12 26300000 33200000 Gain Myxofibrosarcoma Array CGH 16751306 AMN1,ARNTL2,ASUN,BICD1,C12orf70,C12orf71,CAPRIN2,CCDC91,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,FAM60A,FAR2,FGD4,FGFR1OP2,FLJ13224,H3F3C,IPO8,ITPR2,KIAA1551,KLHDC5,LOC100287314,LOC101055625,MANSC4,MED21,METTL20,MRPS35,OVCH1,PKP2,PPFIBP1,PTHLH,REP15,RNU6-78,SSPN,STK38L,TM7SF3,TMTC1,TSPAN11,YARS2 chr12 26300000 35400000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ALG10,AMN1,ARNTL2,ASUN,BICD1,C12orf70,C12orf71,CAPRIN2,CCDC91,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,FAM60A,FAR2,FGD4,FGFR1OP2,FLJ13224,H3F3C,IPO8,ITPR2,KIAA1551,KLHDC5,LOC100287314,LOC101055625,MANSC4,MED21,METTL20,MRPS35,OVCH1,PKP2,PPFIBP1,PTHLH,REP15,RNU6-78,SSPN,STK38L,SYT10,TM7SF3,TMTC1,TSPAN11,YARS2 chr12 26300000 35400000 Loss Hepatocellular carcinoma Array CGH 16750200 ALG10,AMN1,ARNTL2,ASUN,BICD1,C12orf70,C12orf71,CAPRIN2,CCDC91,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,FAM60A,FAR2,FGD4,FGFR1OP2,FLJ13224,H3F3C,IPO8,ITPR2,KIAA1551,KLHDC5,LOC100287314,LOC101055625,MANSC4,MED21,METTL20,MRPS35,OVCH1,PKP2,PPFIBP1,PTHLH,REP15,RNU6-78,SSPN,STK38L,SYT10,TM7SF3,TMTC1,TSPAN11,YARS2 chr1 226313001 226321000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 226327001 226338500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACBD3 chr12 26334919 26353035 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SSPN chr1 226336984 226353535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACBD3 chr1 226336984 226353535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD3 chr1 226338501 226351000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACBD3 chr12 26339766 26339851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 226351001 226364000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACBD3 chr1 22635323 22675393 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 226355050 226357645 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ACBD3 chr1 226355052 226357647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACBD3 chr1 226355052 226357647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD3 chr1 226361002 226363636 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ACBD3 chr1 226361003 226363627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACBD3 chr1 226361003 226363627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD3 chr1 226369326 226369797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACBD3 chr12 263763 368673 Gain and loss Pancreatic cancer SNP array 17952125 IQSEC3,SLC6A12,SLC6A13 chr12 26379552 26877398 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITPR2,SSPN chr12 26379552 26877398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPR2,SSPN chr12 26379552 26877398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPR2,SSPN chr1 226389118 226389316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226390310 226390362 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 2639363 2640407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1C chr1 226394001 226418000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIXL1 chr1 226394286 226403308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226394286 226403308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 26402288 26402619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 226404038 226414146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIXL1 chr1 226404038 226414146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIXL1 chr12 26417824 26417933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 26417851 26417933 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 226418001 226427000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIN9 chr1 226418410 226419836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN9 chr1 226420139 226436581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIN9 chr1 226420139 226436581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN9 chr1 226427001 226431500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIN9 chr1 226428469 226428836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIN9 chr12 26428646 26460391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 226431501 226460000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIN9 chr1 226457831 226467988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN9 chr1 226460001 226461000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIN9 chr1 226461001 226470000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIN9 chr1 226462484 226633198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIN9,PARP1 chr1 226462484 226633198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN9,PARP1 chr1 226470001 226526000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIN9 chr12 26488300 27402780 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASUN,C12orf71,FGFR1OP2,ITPR2,MED21,STK38L,TM7SF3 chr12 26488728 26488802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR2 chr1 226494625 226494714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIN9 chr12 26496160 26878015 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ITPR2 chr1 226497945 226498536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 26500000 33300000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 AMN1,ARNTL2,ASUN,BICD1,C12orf70,C12orf71,CAPRIN2,CCDC91,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,FAM60A,FAR2,FGD4,FGFR1OP2,FLJ13224,H3F3C,IPO8,ITPR2,KIAA1551,KLHDC5,LOC100287314,LOC101055625,MANSC4,MED21,METTL20,MRPS35,OVCH1,PKP2,PPFIBP1,PTHLH,REP15,RNU6-78,STK38L,TM7SF3,TMTC1,TSPAN11,YARS2 chr1 226504320 226504382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 22650931 22730237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 22650931 22730237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226509691 226724600 Gain and loss Pancreatic cancer SNP array 17952125 PARP1 chr1 226526001 226545000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 226545001 226550000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PARP1 chr1 226558001 226560000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PARP1 chr1 226560001 226573500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PARP1 chr1 226573501 226587000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PARP1 chr1 226587001 226597500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PARP1 chr1 226597501 226614500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 2660310 2660410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr1 226614501 226632500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 26616745 26616817 Gain and loss Pancreatic cancer SNP array 17952125 ITPR2 chr12 26616745 26616817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPR2 chr12 26616819 26616887 Gain and loss Pancreatic cancer SNP array 17952125 ITPR2 chr12 26616819 26616887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPR2 chr12 26616899 26616966 Gain and loss Pancreatic cancer SNP array 17952125 ITPR2 chr12 26616899 26616966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPR2 chr1 226616978 226617078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 226632501 226671500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 226638784 226639112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 26644598 26751185 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ITPR2 chr1 226647999 226661140 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 226647999 226661140 Copy number Lung cancer - 20668451 NOT_FOUND chr1 226647999 226661140 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 226647999 226661140 Gain or loss Cancer - 20668451 NOT_FOUND chr1 226647999 226661140 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 226647999 226661140 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 226647999 226661140 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 226647999 226661140 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 226648004 226661140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226648004 226661140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226662259 226670988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226662259 226670988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226662263 226671081 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 226662263 226671081 Gain or loss Cancer - 20668451 NOT_FOUND chr1 226662263 226671081 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 226662263 226671081 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 226662263 226671081 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 226662263 226671081 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 226664156 229449164 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADCK3,ARF1,C1orf145,C1orf35,C1orf95,CDC42BPA,DUSP5P,GJC2,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,LOC100130093,MIR3620,MIR4666A,MIR5008,MRPL55,OBSCN,PRSS38,PSEN2,RAB4A,RHOU,RNF187,SNAP47,SPHAR,TRIM11,TRIM17,WNT3A,WNT9A,ZNF678,ZNF847P chr12 26671330 28194413 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ARNTL2,ASUN,C12orf70,C12orf71,FGFR1OP2,ITPR2,KLHDC5,MANSC4,MED21,MRPS35,PPFIBP1,PTHLH,REP15,STK38L,TM7SF3 chr1 226671501 226854000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf95,ITPKB chr1 226679169 226679649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226679169 226679649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 26682161 26694955 Loss Normal Birdsuite, version 1.5.2 22087296 ITPR2 chr1 226684934 226684991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 226692606 226692898 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 26697597 26697788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR2 chr1 226703492 226703945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2670999 2671234 Deletion Ewing's sarcoma Array CGH 19144156 CACNA1C chr1 226711303 226712197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226711303 226712197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226712431 226712882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226712431 226712882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226718537 226718918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2672858 2676030 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1C chr1 226741716 226749297 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 C1orf95 chr1 226741717 226749292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf95 chr1 226741717 226749292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf95 chr1 226744538 232978811 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ABCB10,ACTA1,ADCK3,AGT,ARF1,ARV1,C1orf131,C1orf145,C1orf198,C1orf35,C1orf95,CAPN9,CCSAP,CDC42BPA,COG2,DISC1,DISC2,DUSP5P,EGLN1,EXOC8,FAM89A,GALNT2,GJC2,GNPAT,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,ITPKB,JMJD4,KIAA1383,LINC00582,LOC100130093,LOC149373,MIR1182,MIR3620,MIR4666A,MIR5008,MRPL55,NUP133,OBSCN,PGBD5,PRSS38,PSEN2,RAB4A,RHOU,RNF187,SIPA1L2,SNAP47,SNRPD2P2,SPHAR,SPRTN,TAF5L,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WNT3A,WNT9A,ZNF678,ZNF847P chr1 226764128 226820102 Gain and loss Pancreatic cancer SNP array 17952125 C1orf95,ITPKB chr1 226764749 226766627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf95 chr1 226764749 226766627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf95 chr12 26765487 26876981 Gain and loss Pancreatic cancer SNP array 17952125 ITPR2 chr1 22676675 22676770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 226768073 226768158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf95 chr1 226772507 226772639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C1orf95 chr1 226810117 226810225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226812638 226812756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226814879 226814997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226817120 226817238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226819361 226819479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226821602 226821720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226822368 226824562 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ITPKB chr1 226823817 226823935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226826037 226826155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr12 26828180 26828234 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITPR2 chr1 226828279 226828397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226830518 226830636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 2268326 2284067 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100129534,MORN1 chr1 226832760 226832878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226835001 226835119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226837241 226837359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226839466 226839584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226841707 226841825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226842808 226854773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226842808 226854773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226843938 226844056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226846179 226846297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr12 2684654 2725194 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CACNA1C chr1 226848410 226848528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226850282 226850402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226854806 226854930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226867681 226867771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPKB chr1 226881429 226881764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITPKB chr1 226885451 226886738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITPKB chr1 226889785 226890190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr1 226889785 226890190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKB chr12 26918013 26918113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR2 chr1 226918184 226951708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITPKB chr1 226937491 226949032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 226937491 226949034 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 226937491 226949034 Gain or loss Cancer - 20668451 NOT_FOUND chr1 226937491 226949034 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 226937491 226949034 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 226937491 226949034 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 226937491 226949034 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 26949385 26982172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPR2 chr12 26949385 26982172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPR2 chr12 26949385 26982210 Gain and loss Pancreatic cancer SNP array 17952125 ITPR2 chr12 26949391 26982210 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITPR2 chr12 26958536 26958636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR2 chr12 26982583 27020271 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITPR2 chr12 26982583 27020271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPR2 chr12 26982583 27020271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPR2 chr12 26982583 27024894 Gain and loss Pancreatic cancer SNP array 17952125 ITPR2 chr12 26989469 70895908 Gain Wilms tumour 250K Genotyping Arrays 21544195 AAAS,ABCD2,ACVR1B,ACVRL1,ADAMTS20,ADCY6,AGAP2,ALG10,ALG10B,AMHR2,AMIGO2,AMN1,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARNTL2,ASB8,ASIC1,ASUN,ATF1,ATF7,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BEST3,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf40,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C12orf70,C12orf71,C1QL4,CACNB3,CALCOCO1,CAND1,CAPRIN2,CBX5,CCDC65,CCDC91,CCNT1,CCT2,CD63,CDK2,CDK4,CELA1,CERS5,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COX14,CPM,CPNE8,CPSF6,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX23,DENND5B,DENND5B-AS1,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DNM1L,DPY19L2,DTX3,DYRK2,EIF4B,ENDOU,ERBB3,ERGIC2,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FAM60A,FAR2,FGD4,FGFR1OP2,FIGNL2,FKBP11,FLJ12825,FLJ13224,FLJ41278,FMNL3,FRS2,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,GXYLT1,H1FNT,H3F3C,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IPO8,IRAK3,IRAK4,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KCNMB4,KIAA1551,KIF21A,KIF5A,KLHDC5,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100287314,LOC100335030,LOC100506844,LOC100507250,LOC100652999,LOC101055625,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LRRC10,LRRK2,LYZ,MANSC4,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED21,METTL1,METTL20,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR3913-1,MIR3913-2,MIR4698,MIR4701,MIR548C,MIR548Z,MIR615,MIRLET7I,MLL2,MMP19,MON2,MRPS35,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OVCH1,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PFDN5,PFKM,PIP4K2C,PKP2,PLEKHA8P1,PMEL,POU6F1,PPFIBP1,PPHLN1,PPM1H,PPP1R1A,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PTHLH,PUS7L,R3HDM2,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,REP15,RHEBL1,RND1,RNF41,RNU6-78,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,STK38L,SUOX,SYT10,TAC3,TARBP2,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TMTC1,TROAP,TSFM,TSPAN11,TSPAN31,TUBA1A,TUBA1B,TUBA1C,TWF1,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZNF385A,ZNF641,ZNF740 chr12 27017395 27058594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASUN chr12 27017395 27058594 Gain and loss Pancreatic cancer SNP array 17952125 ASUN chr12 27017528 27058405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASUN chr12 27017528 27058405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASUN chr12 27018069 27058508 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ASUN chr1 227019599 227022337 Gain Normal 244K array 17666407 NOT_FOUND chr1 227046079 227046168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 27066750 27073949 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASUN chr12 27066750 27073949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASUN chr12 27066750 27073949 Gain and loss Pancreatic cancer SNP array 17952125 ASUN chr12 27066750 27073949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASUN chr12 27066787 27073856 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ASUN chr12 270811 270876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQSEC3 chr1 22708454 22711405 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 227084973 227136462 Gain and loss Pancreatic cancer SNP array 17952125 ADCK3 chr1 227089316 227097121 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 27125257 27126679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TM7SF3 chr12 27125257 27126679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TM7SF3 chr12 27125374 27126679 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TM7SF3 chr12 27125401 27126674 Gain and loss Pancreatic cancer SNP array 17952125 TM7SF3 chr1 227128004 227128054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCK3 chr1 227145020 227156602 Gain and loss Pancreatic cancer SNP array 17952125 ADCK3 chr1 2271486 2303278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100129534,MORN1 chr1 22715432 22719908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 227167998 227168054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADCK3 chr1 227180675 227180765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42BPA chr1 227189865 227244484 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPA chr1 227211532 227375011 Duplication Normal Affymetrix 6.0 microarrays 20967226 CDC42BPA chr1 227225324 233183030 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCB10,ACTA1,AGT,ARF1,ARV1,C1orf131,C1orf145,C1orf198,C1orf35,CAPN9,CCSAP,CDC42BPA,COG2,DISC1,DISC2,DUSP5P,EGLN1,EXOC8,FAM89A,GALNT2,GJC2,GNPAT,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,JMJD4,KIAA1383,LINC00582,LOC100130093,LOC149373,MIR1182,MIR3620,MIR4666A,MIR5008,MRPL55,NTPCR,NUP133,OBSCN,PCNXL2,PGBD5,PRSS38,RAB4A,RHOU,RNF187,SIPA1L2,SNAP47,SNRPD2P2,SPHAR,SPRTN,TAF5L,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WNT3A,WNT9A,ZNF678,ZNF847P chr1 227243790 227243889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42BPA chr1 227244541 227244955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPA chr1 227244541 227244955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPA chr1 22725046 22733433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 227262731 227262839 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPA chr1 227262731 227262841 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPA chr1 227279601 227311794 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPA chr12 27282464 27934654 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ARNTL2,C12orf70,KLHDC5,MANSC4,MRPS35,PPFIBP1,REP15,STK38L chr1 22728268 22728572 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 27288343 27370155 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 27288343 27370155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 27288343 27370155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 27288343 27370155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 27288374 27369795 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 27288374 27369795 Gain or loss Cancer - 20668451 NOT_FOUND chr12 27288374 27369795 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 27288374 27369795 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 27288374 27369795 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 27288374 27369795 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 27288374 27369795 Insertion retinal degeneration References 22138850 NOT_FOUND chr1 227299711 227518155 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-270K arrays 21546498 CDC42BPA chr12 2731157 2731241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1C chr12 2732021 2732559 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1C chr12 27325019 29419862 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARNTL2,C12orf70,CCDC91,FAR2,KLHDC5,MANSC4,MRPS35,PPFIBP1,PTHLH,REP15,STK38L chr12 27325255 27325585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 227336621 227336905 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPA chr12 27337608 27485501 Copy number Lung cancer paired-end sequencing 18438408 STK38L chr12 27341677 28249358 Microdeletion Brachydactyly type E Array CGH 20170896 ARNTL2,C12orf70,KLHDC5,MANSC4,MRPS35,PPFIBP1,PTHLH,REP15,STK38L chr1 227348725 227421342 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPA chr1 227351265 227351412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDC42BPA chr12 27377255 27464733 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 STK38L chr12 27377255 27464733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK38L chr12 27377255 27464733 Gain and loss Pancreatic cancer SNP array 17952125 STK38L chr12 27377255 27464733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK38L chr1 227383938 227384024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPA chr12 2739926 2741313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNA1C chr12 27409285 27409384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK38L chr1 227421558 227443206 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPA chr1 227440012 227440385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDC42BPA chr12 27443256 27443356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK38L chr1 22744854 25429118 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ASAP3,C1QA,C1QB,C1QC,C1orf213,CLIC4,CNR2,E2F2,EPHA8,EPHB2,FUCA1,GALE,GRHL3,HMGCL,HNRNPR,HTR1D,ID3,IL22RA1,IL28RA,KDM1A,LOC100506963,LOC284632,LOC729059,LUZP1,LYPLA2,MDS2,MIR3115,MIR378F,MIR4253,MIR4684,MYOM3,NCMAP,NIPAL3,PITHD1,PNRC2,RCAN3,RCAN3AS,RPL11,RUNX3,SRRM1,SRSF10,STPG1,TCEA3,TCEB3,ZBTB40,ZNF436 chr1 227452006 227454180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPA chr12 27452305 28509001 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ARNTL2,C12orf70,CCDC91,KLHDC5,MANSC4,MRPS35,PPFIBP1,PTHLH,REP15,STK38L chr12 27454680 27488659 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARNTL2,STK38L chr1 227461670 227482720 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPA chr1 227462825 227462930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42BPA chr1 227462949 227463049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42BPA chr1 227462964 227463100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42BPA chr12 27470179 27620211 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARNTL2,C12orf70,STK38L chr1 227473294 227473969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPA chr1 227473294 227473969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPA chr1 227473504 227508261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPA chr12 27487149 27487249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARNTL2 chr1 22749001 22799500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZBTB40 chr1 227499025 227499125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42BPA chr12 27499868 28176716 Copy number Lung cancer paired-end sequencing 18438408 ARNTL2,C12orf70,KLHDC5,MANSC4,MRPS35,PPFIBP1,PTHLH,REP15 chr1 227502482 227502603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42BPA chr1 227506752 227507871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 227506752 227507871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 27514832 27546321 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARNTL2 chr12 27514832 27546321 Gain and loss Pancreatic cancer SNP array 17952125 ARNTL2 chr12 27514832 27546384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARNTL2 chr12 27514832 27546384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNTL2 chr1 227523381 227545358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 227523381 227545358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 27534407 27564651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARNTL2 chr12 27536209 27550643 Copy number loss Normal High-resolution SNP genotyping 21211785 ARNTL2 chr12 27539008 27542629 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ARNTL2 chr12 27539008 27542629 Loss Normal Birdsuite, version 1.5.2 22087296 ARNTL2 chr12 27539410 27546429 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARNTL2 chr12 27550643 33445758 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AMN1,ARNTL2,BICD1,C12orf70,CAPRIN2,CCDC91,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,FAM60A,FAR2,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,KLHDC5,LOC100287314,LOC101055625,MANSC4,METTL20,MRPS35,OVCH1,PKP2,PPFIBP1,PTHLH,REP15,RNU6-78,TMTC1,TSPAN11,YARS2 chr12 27550643 35400000 Copy number gain Normal High-resolution SNP genotyping 21211785 ALG10,AMN1,ARNTL2,BICD1,C12orf70,CAPRIN2,CCDC91,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,FAM60A,FAR2,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,KLHDC5,LOC100287314,LOC101055625,MANSC4,METTL20,MRPS35,OVCH1,PKP2,PPFIBP1,PTHLH,REP15,RNU6-78,SYT10,TMTC1,TSPAN11,YARS2 chr1 227560318 227560681 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 27568312 27739763 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARNTL2,C12orf70,PPFIBP1 chr12 27568312 27739763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARNTL2,C12orf70,PPFIBP1 chr12 27568312 27739763 Gain and loss Pancreatic cancer SNP array 17952125 ARNTL2,C12orf70,PPFIBP1 chr12 27568312 27739763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNTL2,C12orf70,PPFIBP1 chr12 27578616 27578716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARNTL2 chr1 227585498 227585558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 22759096 22760881 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 227599324 227599563 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 227602197 227602271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 27602668 27602798 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 27602674 27602796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 227605451 227657921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 227612954 227613138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2761331 2761798 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1C chr12 27624172 27624272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf70 chr1 22762590 22802674 Copy number Lung cancer - 20668451 ZBTB40 chr1 22762590 22802674 Gain or loss Breast cancer - 20668451 ZBTB40 chr1 22762590 22802674 Gain or loss Cancer - 20668451 ZBTB40 chr1 22762590 22802674 Gain or loss Lung cancer - 20668451 ZBTB40 chr1 22762590 22802674 Gain or loss Ovarian cancer - 20668451 ZBTB40 chr1 22762590 22802674 Gain or loss Pancreas cancer - 20668451 ZBTB40 chr1 22762590 22802674 Gain or loss Prostate cancer - 20668451 ZBTB40 chr1 22762591 22802674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB40 chr1 22762591 22802674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB40 chr1 227627390 227628020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 227628249 227628758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 276299 285791 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IQSEC3 chr1 227633615 227636468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 227633615 227636468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 227643667 227710711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 227643667 227710711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 27646717 27646780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf70 chr1 227666247 227683651 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 227683717 227720269 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 227696842 233631743 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-280K arrays 21546498 ABCB10,ACTA1,AGT,ARF1,ARV1,C1orf131,C1orf145,C1orf198,C1orf35,CAPN9,CCSAP,COG2,DISC1,DISC2,DUSP5P,EGLN1,EXOC8,FAM89A,GALNT2,GJC2,GNPAT,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,JMJD4,KIAA1383,KIAA1804,LINC00582,LOC100130093,LOC149373,MIR1182,MIR3620,MIR4666A,MIR5008,MRPL55,NTPCR,NUP133,OBSCN,PCNXL2,PGBD5,PRSS38,RAB4A,RHOU,RNF187,SIPA1L2,SNAP47,SNRPD2P2,SPHAR,SPRTN,TAF5L,TRIM11,TRIM17,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2,WNT3A,WNT9A,ZNF678,ZNF847P chr12 27700000 30600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CCDC91,ERGIC2,FAR2,KLHDC5,LOC101055625,MANSC4,MRPS35,OVCH1,PPFIBP1,PTHLH,REP15,TMTC1 chr12 27700000 33200000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 AMN1,BICD1,CAPRIN2,CCDC91,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,FAM60A,FAR2,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,KLHDC5,LOC100287314,LOC101055625,MANSC4,METTL20,MRPS35,OVCH1,PKP2,PPFIBP1,PTHLH,REP15,RNU6-78,TMTC1,TSPAN11,YARS2 chr1 227718953 227761065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF678 chr1 227718953 227761065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF678 chr1 227737405 227737559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 27740695 27741833 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPFIBP1 chr12 27740695 27741833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP1 chr12 27740695 27741833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP1 chr12 27740763 27741473 Gain and loss Pancreatic cancer SNP array 17952125 PPFIBP1 chr12 2774414 2783379 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1C chr12 2774414 2783381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1C chr12 2774414 2783381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1C chr12 27744404 27744436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIBP1 chr1 227752275 227752392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF678 chr12 27754996 27800494 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPFIBP1 chr12 27754996 27800494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP1 chr12 27754996 27800494 Gain and loss Pancreatic cancer SNP array 17952125 PPFIBP1 chr12 27754996 27800494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP1 chr1 22776986 22777082 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 NOT_FOUND chr1 227772902 227773166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF678 chr1 227778049 227780226 Gain and loss Pancreatic cancer SNP array 17952125 ZNF678 chr1 227779585 227796721 Gain and loss Pancreatic cancer SNP array 17952125 ZNF678 chr1 227795481 227828417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF678 chr1 227795481 227828417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF678 chr1 227795486 227828417 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF678 chr12 27797074 27797184 Gain and loss Pancreatic cancer SNP array 17952125 PPFIBP1 chr12 27800000 38200000 Gain Breast cancer Microarray-based CGH 17133270 ALG10,AMN1,BICD1,CAPRIN2,CCDC91,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,ERGIC2,FAM60A,FAR2,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,KLHDC5,LOC100287314,LOC101055625,MANSC4,METTL20,MRPS35,OVCH1,PKP2,PPFIBP1,PTHLH,REP15,RNU6-78,SYT10,TMTC1,TSPAN11,YARS2 chr1 227806240 227867525 Gain and loss Pancreatic cancer SNP array 17952125 ZNF678 chr12 27806944 27815458 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPFIBP1 chr12 27806944 27815458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP1 chr1 22780831 22780931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB40 chr1 227816797 227816993 Gain and loss Pancreatic cancer SNP array 17952125 ZNF678 chr12 27824454 27847239 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPFIBP1 chr12 27824454 27847239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP1 chr12 27824454 27847239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIBP1 chr12 27824723 27844908 Gain and loss Pancreatic cancer SNP array 17952125 PPFIBP1 chr1 22782764 22986388 Gain and loss Pancreatic cancer SNP array 17952125 C1QA,C1QB,C1QC,EPHA8,ZBTB40 chr1 227828604 227862569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF678 chr1 227828604 227862569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF678 chr1 227843862 227867765 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ZNF678 chr12 27849723 29248257 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC91,KLHDC5,MANSC4,MRPS35,PTHLH,REP15 chr12 27850266 27850590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 REP15 chr12 27850271 27850590 Gain and loss Pancreatic cancer SNP array 17952125 REP15 chr12 27850349 27850590 Gain and loss Pancreatic cancer SNP array 17952125 REP15 chr1 22786146 22786246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB40 chr1 22786228 22786470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB40 chr12 27864608 27864805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS35 chr12 27864794 27865019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS35 chr12 27864803 27864903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS35 chr1 22786950 22787050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB40 chr1 227878853 227886237 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 ZNF847P chr1 227878853 227886237 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNF847P chr1 227879157 227887458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF847P chr1 227883479 227886819 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF847P chr1 227883479 227886819 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZNF847P chr1 227891367 227892274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 227891367 227892274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 27900339 27900437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS35 chr1 227907604 227908231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2792123 2804367 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CACNA1C,CACNA1C-AS1 chr12 2792124 2804367 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1C,CACNA1C-AS1 chr12 2792124 2804367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1C,CACNA1C-AS1 chr1 227931495 228222731 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR5008,PRSS38,SNAP47,WNT3A,WNT9A chr12 27938350 29096612 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CCDC91,KLHDC5,PTHLH chr1 227946927 227947027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNAP47 chr12 27949948 27950042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHDC5 chr12 27968621 27968720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 227971134 228009002 Gain and loss Pancreatic cancer SNP array 17952125 PRSS38 chr1 227977143 227977213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 27985938 27988899 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 27986760 27988911 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 22799501 22802000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZBTB40 chr12 28002284 28016183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 28002284 28016183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 28002284 28016183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 28002284 28016183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 228003730 230169970 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCB10,ACTA1,ARF1,C1orf145,C1orf35,CCSAP,DUSP5P,GJC2,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,MIR3620,MIR4666A,MIR5008,MRPL55,NUP133,OBSCN,PRSS38,RAB4A,RHOU,RNF187,SPHAR,TAF5L,TRIM11,TRIM17,URB2,WNT3A,WNT9A chr1 228019871 228055233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS38 chr1 22802001 23125500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684,ZBTB40 chr12 2804773 2814451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1C chr12 2804773 2814451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1C chr12 2804773 2814453 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1C chr12 2804774 2814450 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CACNA1C chr1 228057549 228057639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228065730 228096604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 228069296 228479312 Gain and loss Pancreatic cancer SNP array 17952125 ARF1,C1orf145,C1orf35,GJC2,GUK1,IBA57,MIR3620,MIR5008,MRPL55,OBSCN,WNT3A,WNT9A chr1 228090046 228118102 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WNT9A chr12 28099880 28118244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTHLH chr12 28101865 132349534 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC91,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX23,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERGIC2,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM71C,FAR2,FBXO21,FBXW8,FGD4,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IPO8,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIAA1551,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287314,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTHLH,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-78,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 28109152 28120361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTHLH chr1 228113116 228113215 Gain and loss Pancreatic cancer SNP array 17952125 WNT9A chr1 228113117 228113233 Gain and loss Pancreatic cancer SNP array 17952125 WNT9A chr12 2814825 2814925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 28153585 28153664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 28155063 28155163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 28163111 28163324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228171784 228171927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 28191101 29383831 Copy number Lung cancer paired-end sequencing 18438408 CCDC91,FAR2 chr12 28193599 28193699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228199262 228200497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WNT3A chr1 228199470 228200805 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 WNT3A chr1 228219928 228220013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNT3A chr12 2823183 2823627 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 228235420 228243839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WNT3A chr12 28251371 28251446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228251553 228251620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 28253266 28253360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228256842 228256930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228259743 228259843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228269579 228484488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARF1,C1orf145,C1orf35,GJC2,GUK1,IBA57,MIR3620,MRPL55,OBSCN chr1 228269650 228484569 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ARF1,C1orf145,C1orf35,GJC2,GUK1,IBA57,MIR3620,MRPL55,OBSCN chr1 228274056 228274056 Indels Normal Affymetrix and Illumina arrays 20811451 ARF1 chr12 28274386 28274591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 2828088 2828493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2828658 2836474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 28287138 28593391 Gain and loss Pancreatic cancer SNP array 17952125 CCDC91 chr12 28301400 28594365 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC91 chr12 28301400 28594365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC91 chr12 28301400 28594365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC91 chr1 2283078 2314364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100129534,MORN1 chr12 28313188 28337655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 2283273 2312220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100129534,MORN1 chr1 228338214 228340510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GJC2 chr1 228340667 228340712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GJC2 chr1 228342896 228342950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GJC2 chr1 228345516 228366703 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GJC2,IBA57 chr1 22835705 22838762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB40 chr1 22835705 22838762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB40 chr12 28363535 28363663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 228366540 228914590 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 C1orf145,DUSP5P,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,MIR4666A,OBSCN,RHOU,RNF187,TRIM11,TRIM17 chr12 2837111 2856564 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 2837113 2856564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2837113 2856564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 28386616 28386716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 2839376 2839457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 2839376 2839457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2839376 2839460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2283967 2291442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100129534,MORN1 chr12 28402693 28402793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 28410133 28703099 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 CCDC91 chr12 28417303 28417455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC91 chr1 22842713 22847190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB40 chr1 22842713 22847190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB40 chr12 28438403 28438609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC91 chr12 28438598 28438832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC91 chr1 228451708 228451802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OBSCN chr12 28467893 28498797 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC91 chr1 22848023 22848112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB40 chr1 228481345 228481445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OBSCN chr1 2284858 2355155 Gain and loss Pancreatic cancer SNP array 17952125 MORN1,PEX10,RER1 chr12 2850000 4000000 Gain Breast cancer aCGH 21509527 EFCAB4B,FKBP4,FOXM1,ITFG2,LOC100507424,LOC283440,NRIP2,PARP11,PRMT8,RHNO1,TEAD4,TSPAN9,TULP3 chr12 28504 4745916 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADIPOR2,AKAP3,B4GALNT3,C12orf4,C12orf5,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,DCP1B,DYRK4,EFCAB4B,ERC1,FAM138D,FBXL14,FGF23,FGF6,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,PARP11,PRMT8,RAD51AP1,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr1 228517718 228517825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OBSCN chr1 228518061 228518599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OBSCN chr1 228521691 228521791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OBSCN chr1 22852269 22860616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB40 chr1 22852269 22860616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB40 chr1 228524015 228628098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIST3H3,OBSCN,TRIM11,TRIM17 chr1 228524015 228628098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIST3H3,OBSCN,TRIM11,TRIM17 chr12 28526130 28543542 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CCDC91 chr12 28541832 29940348 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CCDC91,ERGIC2,FAR2,LOC101055625,OVCH1,TMTC1 chr12 28546298 28546398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC91 chr12 28549594 28549683 Gain and loss Pancreatic cancer SNP array 17952125 CCDC91 chr12 28549598 28549695 Gain and loss Pancreatic cancer SNP array 17952125 CCDC91 chr12 28549603 28549694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC91 chr12 2856650 2868885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2856650 2868885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2856660 2868441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 28588835 28588934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC91 chr1 228593862 228593927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM11 chr12 28610508 28610644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC91 chr12 2865294 2865348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 228654482 228698805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RNF187 chr12 28656614 28658887 Gain Normal Birdsuite, version 1.5.2 22087296 CCDC91 chr1 228665357 228665621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 228701341 228701430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 2870293 2920562 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 FKBP4,LOC283440 chr12 2870294 2920558 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FKBP4,LOC283440 chr12 2870294 2920558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FKBP4,LOC283440 chr12 2870294 2920558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FKBP4,LOC283440 chr12 2870294 2920560 Gain and loss Pancreatic cancer SNP array 17952125 FKBP4,LOC283440 chr12 28714764 28714845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 22874288 22874368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 28754231 28754311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228800000 232700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCB10,ACTA1,AGT,ARV1,C1orf131,C1orf198,CAPN9,CCSAP,COG2,DISC1,DISC2,EGLN1,EXOC8,FAM89A,GALNT2,GNPAT,LINC00582,LOC149373,MIR1182,NUP133,PGBD5,RAB4A,RHOU,SIPA1L2,SNRPD2P2,SPHAR,SPRTN,TAF5L,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2 chr1 228800000 232700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCB10,ACTA1,AGT,ARV1,C1orf131,C1orf198,CAPN9,CCSAP,COG2,DISC1,DISC2,EGLN1,EXOC8,FAM89A,GALNT2,GNPAT,LINC00582,LOC149373,MIR1182,NUP133,PGBD5,RAB4A,RHOU,SIPA1L2,SNRPD2P2,SPHAR,SPRTN,TAF5L,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2 chr1 228800000 234600000 Amplification Ovarian clear cell carcinoma FISH 19293255 ABCB10,ACTA1,AGT,ARV1,C1orf131,C1orf198,C1orf31,CAPN9,CCSAP,COG2,DISC1,DISC2,EGLN1,EXOC8,FAM89A,GALNT2,GNPAT,KCNK1,KIAA1383,KIAA1804,LINC00582,LOC149373,MIR1182,MIR4427,MIR4671,NTPCR,NUP133,PCNXL2,PGBD5,RAB4A,RHOU,SIPA1L2,SLC35F3,SNRPD2P2,SPHAR,SPRTN,TAF5L,TARBP1,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2 chr1 228814375 228814781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOU chr12 2882358 2882458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228840449 228957172 Gain and loss Pancreatic cancer SNP array 17952125 RHOU chr1 228844861 228896351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOU chr1 228844861 228896351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOU chr1 228844880 228896351 Amplification Intellectual disability 100k SNP Array 21811512 RHOU chr1 228844880 228896351 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 RHOU chr1 228850898 228914412 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RHOU chr1 228884482 228932842 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 228888107 228921694 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 2889000 4487000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 C12orf5,CCND2,EFCAB4B,FGF23,FKBP4,FOXM1,ITFG2,LOC100507424,NRIP2,PARP11,PRMT8,RHNO1,TEAD4,TSPAN9,TULP3 chr1 228895774 228896323 Gain Ewing's sarcoma Array CGH 19144156 NOT_FOUND chr1 228904897 228916564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 228904897 228916564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 28917629 29524043 LOH Normal High-resolution SNP genotyping 21211785 ERGIC2,FAR2 chr12 28933938 28934024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228949753 229004372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 228949753 229004372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 228959918 228960151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 28960915 28961070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 228963392 228997287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 29002049 29181116 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 29003619 29541563 LOH Normal High-resolution SNP genotyping 21211785 ERGIC2,FAR2 chr12 29009447 29009447 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr12 29009447 29009447 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr12 29019276 29019376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 229022619 229022727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229039499 229070913 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 229039499 229070913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229039499 229070913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 29052944 29056085 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 29089414 29089514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 229096509 229096793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229096510 229096792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 29098196 29118128 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 29098196 29118128 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 22909917 23114410 Gain or loss Breast cancer - 20668451 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 chr1 22909917 23114410 Gain or loss Cancer - 20668451 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 chr1 22909917 23114410 Gain or loss Lung cancer - 20668451 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 chr1 22909917 23114410 Gain or loss Ovarian cancer - 20668451 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 chr1 22909917 23114410 Gain or loss Pancreas cancer - 20668451 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 chr1 22909917 23114410 Gain or loss Prostate cancer - 20668451 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 chr1 22909918 23114410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 chr1 22909918 23114410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 chr12 29101388 29639626 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ERGIC2,FAR2,LOC101055625,OVCH1 chr1 229108611 229181230 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 229108613 229181207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229108613 229181207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 29119100 29119195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 229140513 229140613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 229142703 229142788 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 29162322 29164589 Loss Normal 244K array 17666407 NOT_FOUND chr12 29164983 29165082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 29171502 29171817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 29174440 29174524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 29176728 29194753 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 229181446 229203094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229181446 229203094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 29192719 29194422 Gain Normal 244K array 17666407 NOT_FOUND chr12 29193400 29378272 Gain and loss Pancreatic cancer SNP array 17952125 FAR2 chr12 2919369 2925875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITFG2 chr1 229221558 229242608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229221558 229242608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229222197 229222293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229223980 229224552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 29232929 29234529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 229247924 229252827 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 29267865 29378272 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAR2 chr12 29267865 29378272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAR2 chr12 29267865 29378272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAR2 chr1 229274498 229274668 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 29283606 29284137 Gain Normal 244K array 17666407 NOT_FOUND chr12 2930498 2930572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITFG2 chr12 29307843 29307921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 229320200 229320694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 2933673 2933765 Gain and loss Pancreatic cancer SNP array 17952125 ITFG2 chr12 2933673 2933765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITFG2 chr12 2933922 2934160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITFG2 chr1 2293501 2309000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MORN1 chr1 229351994 229691388 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ABCB10,ACTA1,CCSAP,NUP133,RAB4A,SPHAR chr1 229351994 229691388 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ABCB10,ACTA1,CCSAP,NUP133,RAB4A,SPHAR chr1 229365297 229423937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB4A chr1 229365297 229423937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB4A chr1 229369689 229369994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 29381556 29425410 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAR2 chr12 29381556 29425410 Gain and loss Pancreatic cancer SNP array 17952125 FAR2 chr12 29384845 29425410 Amplification Intellectual disability 100k SNP Array 21811512 FAR2 chr12 29384845 29425410 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FAR2 chr12 29384868 29425410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAR2 chr12 29384868 29425410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAR2 chr1 229386515 229388618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 2938757 3020103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FOXM1,LOC100507424,NRIP2,RHNO1,TULP3 chr12 2938757 3020103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXM1,LOC100507424,NRIP2,RHNO1,TULP3 chr12 2938757 3020103 Gain and loss Pancreatic cancer SNP array 17952125 FOXM1,LOC100507424,NRIP2,RHNO1,TULP3 chr12 2938757 3020103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXM1,LOC100507424,NRIP2,RHNO1,TULP3 chr1 229393105 229420954 Gain and loss Pancreatic cancer SNP array 17952125 RAB4A chr12 29397936 32173034 Copy number Lung cancer paired-end sequencing 18438408 AMN1,CAPRIN2,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,ERGIC2,FAM60A,FAR2,FLJ13224,H3F3C,IPO8,KIAA1551,LOC100287314,LOC101055625,METTL20,OVCH1,RNU6-78,TMTC1,TSPAN11 chr1 229413297 229413419 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAB4A chr1 229422569 229422669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB4A chr1 229426132 229443547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB4A,SPHAR chr1 229426132 229443547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB4A,SPHAR chr1 229426179 229426672 Copy number Ewing's sarcoma Array CGH 19144156 RAB4A chr1 229426785 229500999 Gain and loss Pancreatic cancer SNP array 17952125 CCSAP,RAB4A,SPHAR chr1 229443583 229480153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCSAP chr1 229443583 229480153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCSAP chr1 229449164 231770004 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCB10,ACTA1,AGT,ARV1,C1orf131,C1orf198,CAPN9,CCSAP,COG2,DISC1,EGLN1,EXOC8,FAM89A,GALNT2,GNPAT,LINC00582,LOC149373,MIR1182,NUP133,PGBD5,SNRPD2P2,SPRTN,TAF5L,TRIM67,TSNAX,TSNAX-DISC1,TTC13,URB2 chr12 29464675 29465015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAR2 chr12 29471771 29541886 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERGIC2,FAR2 chr12 29471771 29541886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERGIC2,FAR2 chr12 29471771 29541886 Gain and loss Pancreatic cancer SNP array 17952125 ERGIC2,FAR2 chr12 29471771 29541886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERGIC2,FAR2 chr1 22947897 22947991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229483783 229483893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 29531856 29531956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERGIC2 chr1 229535122 229540221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229535122 229540221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229539501 229541000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 229540305 229556611 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229540305 229556611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 29545023 29828959 Amplification Intellectual disability 100k SNP Array 21811512 LOC101055625,OVCH1,TMTC1 chr12 29545024 29828959 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC101055625,OVCH1,TMTC1 chr12 29545024 29828959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC101055625,OVCH1,TMTC1 chr12 29545024 29828959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC101055625,OVCH1,TMTC1 chr12 29550182 29828959 Gain and loss Pancreatic cancer SNP array 17952125 LOC101055625,OVCH1,TMTC1 chr1 229553602 229553723 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr12 29553783 30675374 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC101055625,OVCH1,TMTC1 chr12 29553783 30915284 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAPRIN2,IPO8,LOC101055625,OVCH1,TMTC1 chr1 229556039 229556651 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 229568054 229627413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTA1,NUP133 chr1 229568054 229627413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTA1,NUP133 chr1 229576685 229576881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229577493 229705644 Gain and loss Pancreatic cancer SNP array 17952125 ABCB10,NUP133 chr12 2959273 2987276 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FOXM1,LOC100507424,RHNO1 chr1 229598935 229602207 Loss Normal Birdsuite, version 1.5.2 22087296 NUP133 chr1 229602000 229612660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NUP133 chr1 229602207 229609279 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NUP133 chr1 229632325 229648709 Loss Normal Birdsuite, version 1.5.2 22087296 NUP133 chr1 229664393 229947546 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-271K arrays 21546498 ABCB10,TAF5L,URB2 chr1 229666564 229666664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCB10 chr12 2966849 2986303 Copy number Breast cancer Illumina Human-1 109-K BeadChip array 21908711 FOXM1,LOC100507424,RHNO1 chr12 2966849 2986303 Copy number Ductal carcinoma Illumina Human-1 109-K BeadChip array 21908711 FOXM1,LOC100507424,RHNO1 chr1 229678325 229678657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCB10 chr1 22970104 23001957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QB,C1QC chr1 229731022 229768890 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF5L,URB2 chr1 229731022 229768890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF5L,URB2 chr1 229731022 229768890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF5L,URB2 chr1 229731572 229739650 Gain Autism 1M Ailent CGH whole-genome array 21865298 TAF5L chr12 29733601 29739700 Deletion Glioma mate-paired sequence 20126413 TMTC1 chr12 29735501 29737500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMTC1 chr12 29735649 29737702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMTC1 chr1 229737807 229737959 Gain and loss Pancreatic cancer SNP array 17952125 TAF5L chr12 2975009 3093017 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 FOXM1,RHNO1,TEAD4,TULP3 chr1 229770249 229826486 Gain and loss Pancreatic cancer SNP array 17952125 URB2 chr12 297784 302927 Gain Normal 244K array 17666407 SLC6A12 chr1 229810210 229810608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 22981878 23055271 Gain Normal Birdsuite, version 1.5.2 22087296 C1QB,EPHB2,MIR4684 chr1 229829184 230243637 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GALNT2 chr1 229829184 230243637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT2 chr1 229829184 230243637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT2 chr12 29835553 29835978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMTC1 chr1 229873004 229873119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 229891101 229891262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 229891187 229891262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 229898405 229930510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 29914434 30066499 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TMTC1 chr1 229931312 230623118 LOH Normal High-resolution SNP genotyping 21211785 GALNT2,PGBD5 chr12 29935026 29935208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMTC1 chr1 229936078 229936131 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 229958508 229958608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 29963884 29964884 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 29974896 30007343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 229977634 230015444 Gain Autism qPCR 20531469 NOT_FOUND chr12 29986214 29987214 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 29999 149999 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 FAM138D,LOC100288778 chr1 2300000 115900000 Loss Non-small cell lung cancer - 21385341 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD164L2,CD52,CD53,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100133445,LOC100133612,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MOB3C,MORN1,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NIPAL3,NKAIN1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA5B1,WASF2,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 2300000 117600000 Loss Gastrointestinal stromal cancer array CGH 16982739 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100133445,LOC100133612,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MOB3C,MORN1,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA5B1,WASF2,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 2300000 124300000 Loss Chordoma Array CGH 21602918 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100133445,LOC100133612,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MOB3C,MORN1,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 2300000 12600000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ACOT7,ACTRT2,AGTRAP,AJAP1,ANGPTL7,APITD1,APITD1-CORT,ARHGEF16,C1orf127,C1orf174,C1orf200,CA6,CAMTA1,CASZ1,CCDC27,CEP104,CHD5,CLCN6,CLSTN1,CORT,CTNNBIP1,DFFA,DFFB,DNAJC11,DRAXIN,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM213B,FBXO2,FBXO44,FBXO6,FLJ42875,GPR153,GPR157,H6PD,HES2,HES3,HES5,ICMT,KCNAB2,KIAA2013,KIF1B,KLHL21,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIIP,MIR34A,MIR4251,MIR4252,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MORN1,MTHFR,MTOR,MTOR-AS1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,PANK4,PARK7,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLOD1,PRDM16,PTCHD2,RBP7,RER1,RERE,RNF207,RPL22,SLC25A33,SLC2A5,SLC2A7,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TAS1R1,THAP3,TMEM201,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D,WRAP73,ZBTB48 chr1 2300000 12700000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ACOT7,ACTRT2,AGTRAP,AJAP1,ANGPTL7,APITD1,APITD1-CORT,ARHGEF16,C1orf127,C1orf174,C1orf200,CA6,CAMTA1,CASZ1,CCDC27,CEP104,CHD5,CLCN6,CLSTN1,CORT,CTNNBIP1,DFFA,DFFB,DHRS3,DNAJC11,DRAXIN,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM213B,FBXO2,FBXO44,FBXO6,FLJ42875,GPR153,GPR157,H6PD,HES2,HES3,HES5,ICMT,KCNAB2,KIAA2013,KIF1B,KLHL21,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIIP,MIR34A,MIR4251,MIR4252,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MORN1,MTHFR,MTOR,MTOR-AS1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,PANK4,PARK7,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLOD1,PRDM16,PTCHD2,RBP7,RER1,RERE,RNF207,RPL22,SLC25A33,SLC2A5,SLC2A7,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TAS1R1,THAP3,TMEM201,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D,WRAP73,ZBTB48 chr1 2300000 16100000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 AADACL3,AADACL4,ACOT7,ACTRT2,AGMAT,AGTRAP,AJAP1,ANGPTL7,APITD1,APITD1-CORT,ARHGEF16,C1orf126,C1orf127,C1orf158,C1orf174,C1orf200,CA6,CAMTA1,CASP9,CASZ1,CCDC27,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,EFHD2,ENO1,ENO1-AS1,ERRFI1,ESPN,EXOSC10,FAM213B,FBLIM1,FBXO2,FBXO44,FBXO6,FHAD1,FLJ42875,GPR153,GPR157,H6PD,HES2,HES3,HES5,HNRNPCL1,ICMT,KAZN,KCNAB2,KIAA2013,KIF1B,KLHL21,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC440563,LOC649330,LOC728716,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIIP,MIR34A,MIR4251,MIR4252,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MORN1,MTHFR,MTOR,MTOR-AS1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,PANK4,PARK7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PTCHD2,RBP7,RER1,RERE,RNF207,RPL22,RSC1A1,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TAS1R1,THAP3,TMEM201,TMEM51,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D,WRAP73,ZBTB48 chr1 2300000 27800000 Deletion Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 AADACL3,AADACL4,ACOT7,ACTL8,ACTRT2,AGMAT,AGTRAP,AIM1L,AJAP1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ASAP3,ATP13A2,AUNIP,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf172,C1orf174,C1orf200,C1orf213,C1orf63,C1orf64,CA6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC27,CD164L2,CD52,CDA,CDC42,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DFFA,DFFB,DHDDS,DHRS3,DNAJC11,DNAJC16,DRAXIN,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM213B,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FLJ42875,FUCA1,GALE,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,H6PD,HES2,HES3,HES5,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ICMT,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,KAZN,KCNAB2,KDM1A,KIAA2013,KIF17,KIF1B,KLHDC7A,KLHL21,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100133445,LOC100133612,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC284632,LOC284661,LOC339505,LOC440563,LOC644961,LOC646471,LOC649330,LOC728716,LOC729059,LRRC38,LRRC47,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MEGF6,MFAP2,MFN2,MIIP,MINOS1,MIR1976,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4417,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MMEL1,MORN1,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PTCHD2,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RER1,RERE,RHCE,RHD,RNF186,RNF207,RPL11,RPL22,RPS6KA1,RSC1A1,RSG1,RUNX3,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC45A1,SLC9A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R1,TAS1R2,TCEA3,TCEB3,THAP3,TMCO4,TMEM201,TMEM222,TMEM50A,TMEM51,TMEM57,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRIM63,TRNP1,TTC34,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA5B1,WASF2,WDTC1,WNT4,WRAP73,ZBTB17,ZBTB40,ZBTB48,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 2300000 46500000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AADACL3,AADACL4,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATP13A2,ATP6V0B,ATPIF1,AUNIP,B4GALT2,BAI2,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf63,C1orf64,C1orf94,CA6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,DCDC2B,DDI2,DDOST,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM167B,FAM176B,FAM183A,FAM213B,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXJ3,FUCA1,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GMEB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0754,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00339,LOC100128071,LOC100129924,LOC100130557,LOC100133445,LOC100133612,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIIP,MINOS1,MIR1976,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MMACHC,MMEL1,MORN1,MPL,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYCBP,MYCL1,MYOM3,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NT5C1A,NUDC,OPRD1,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SCARNA1,SCMH1,SDC3,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC45A1,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,ST3GAL3,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TARDBP,TAS1R1,TAS1R2,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSSK3,TTC34,TXLNA,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA5B1,WASF2,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr1 2300000 5300000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTRT2,AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,FAM213B,FLJ42875,HES5,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR551A,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRDM16,RER1,SMIM1,TNFRSF14,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 chr1 2300000 5300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTRT2,AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,FAM213B,FLJ42875,HES5,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR551A,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRDM16,RER1,SMIM1,TNFRSF14,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 chr1 2300000 5300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTRT2,AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,FAM213B,FLJ42875,HES5,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR551A,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRDM16,RER1,SMIM1,TNFRSF14,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 chr1 2300000 5400000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ACTRT2,AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,FAM213B,FLJ42875,HES5,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR551A,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRDM16,RER1,SMIM1,TNFRSF14,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 chr1 2300000 5400000 Copy number Neuroticism SNP array 17667963 ACTRT2,AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,FAM213B,FLJ42875,HES5,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR551A,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRDM16,RER1,SMIM1,TNFRSF14,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 chr1 2300000 5400000 Gain Gastric cancer Array CGH 16891809 ACTRT2,AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,FAM213B,FLJ42875,HES5,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR551A,MMEL1,MORN1,PANK4,PEX10,PLCH2,PRDM16,RER1,SMIM1,TNFRSF14,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 chr1 2300000 57866667 Deletion Medulloblastoma SNP arrays 21979893 AADACL3,AADACL4,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf168,C1orf172,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf63,C1orf64,C1orf94,C8A,C8B,CA6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DEM1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GMEB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00339,LOC100128071,LOC100129924,LOC100130557,LOC100133445,LOC100133612,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LRP8,LRRC38,LRRC41,LRRC42,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIIP,MINOS1,MIR1976,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4781,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MOB3C,MORN1,MPL,MRPL37,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYCBP,MYCL1,MYOM3,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SCARNA1,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSBP3,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TCEA3,TCEANC2,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TXLNA,TXNDC12,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP24,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA5B1,WASF2,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr1 2300000 68700000 Deletion Medulloblastoma SNP arrays 21979893 AADACL3,AADACL4,ACOT11,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AK4,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf151-NBL1,C1orf158,C1orf168,C1orf172,C1orf174,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf63,C1orf64,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DEM1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DOCK7,DPH2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FUCA1,GADD45A,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GMEB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HES2,HES3,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LIN28A,LINC00339,LINC00466,LOC100128071,LOC100129924,LOC100130557,LOC100131060,LOC100133445,LOC100133612,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LRP8,LRRC38,LRRC41,LRRC42,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR1976,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4417,MIR4420,MIR4422,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MOB3C,MORN1,MPL,MRPL37,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RAD54L,RAP1GAP,RAVER2,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNU11,ROR1,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SCARNA1,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSBP3,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TXLNA,TXNDC12,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP1,USP24,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA5B1,WASF2,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr1 2300000 7100000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT7,ACTRT2,AJAP1,ARHGEF16,C1orf174,CAMTA1,CCDC27,CEP104,CHD5,DFFB,DNAJC11,ESPN,FAM213B,FLJ42875,GPR153,HES2,HES3,HES5,ICMT,KCNAB2,KLHL21,LOC100133445,LOC100133612,LOC115110,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR4252,MIR4417,MIR4689,MIR551A,MMEL1,MORN1,NOL9,NPHP4,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PRDM16,RER1,RNF207,RPL22,SMIM1,TAS1R1,THAP3,TNFRSF14,TNFRSF25,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73,ZBTB48 chr12 30002256 30003256 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 230006007 230006209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230006233 230006413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30014548 30015548 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 30026039 30656823 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr12 30029899 30030899 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 230056485 230114719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 23006013 23006091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230080484 230080560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230100342 230114342 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 30124825 30125093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 30124968 30125116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 30126849 30135204 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 30128178 30134819 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 30128178 30134819 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 30128512 30134828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 30128764 30130534 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 30128764 30135200 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 30130534 30134956 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 30131342 30137446 Loss Normal 244K array 17666407 NOT_FOUND chr12 3013275 3013661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TULP3 chr12 30134956 30134989 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 30134989 30135200 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 30135200 30135252 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 30145166 30145266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30159186 30985233 LOH Normal High-resolution SNP genotyping 21211785 CAPRIN2,IPO8,LOC100287314 chr12 30159263 30159352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30187581 30350442 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr1 230223390 230231832 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 GALNT2 chr12 3022833 3022902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TULP3 chr12 30240433 30240533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30244833 30812188 LOH Normal High-resolution SNP genotyping 21211785 IPO8 chr12 30244833 30813252 LOH Normal High-resolution SNP genotyping 21211785 IPO8 chr12 30262585 30263009 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 230265799 230266810 Gain and loss Pancreatic cancer SNP array 17952125 GALNT2 chr1 230288408 230288508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT2 chr12 302927 306716 Gain Normal 244K array 17666407 SLC6A12 chr1 230330717 230330817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT2 chr1 230347559 230766984 Gain and loss Pancreatic cancer SNP array 17952125 GALNT2,PGBD5 chr12 30350635 30350725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 30350635 30350725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 30362884 30369496 Gain Normal 244K array 17666407 NOT_FOUND chr12 30366829 30380138 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 30366829 30380138 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 30367601 30374200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 30369551 30372256 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr12 30369560 30371920 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 30369858 30369965 Loss Normal 244K array 17666407 NOT_FOUND chr1 230373266 230373366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT2 chr12 30387511 30387553 Loss Normal 244K array 17666407 NOT_FOUND chr1 230387927 230388002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT2 chr12 30391604 30391692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 30395342 30400632 Gain Normal 244K array 17666407 NOT_FOUND chr12 30399455 30399901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 30400606 30400706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30420653 30420828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230424307 230424543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 230425235 230425513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 230425245 230425509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 230429554 230429654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30432761 30440459 Gain Normal 244K array 17666407 NOT_FOUND chr12 30435929 35400000 Copy number gain Normal High-resolution SNP genotyping 21211785 ALG10,AMN1,BICD1,CAPRIN2,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,LOC100287314,METTL20,PKP2,RNU6-78,SYT10,TSPAN11,YARS2 chr1 230443242 230443298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230451674 230516000 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PGBD5 chr1 230451674 230562617 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PGBD5 chr1 230451674 230562998 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PGBD5 chr12 30453672 30472248 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr1 230453877 230487839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PGBD5 chr12 30470844 30471064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30470947 30471062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30471072 30471270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30473064 30473181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230489742 230490069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PGBD5 chr12 3050961 3051572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 3050973 3051572 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 230520931 231254634 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGT,ARV1,C1orf198,CAPN9,COG2,FAM89A,MIR1182,PGBD5,TTC13 chr1 230525214 230526874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PGBD5 chr1 230525246 230526864 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PGBD5 chr1 230529672 230529716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGBD5 chr12 30538926 30539026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 23055135 23055235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB2 chr1 230556915 230557018 Loss Normal 244K array 17666407 PGBD5 chr1 230563200 230563521 Loss Normal 244K array 17666407 NOT_FOUND chr12 3056806 3265985 Gain and loss Pancreatic cancer SNP array 17952125 TEAD4,TSPAN9 chr12 3056818 3265990 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TEAD4,TSPAN9 chr12 3056818 3265990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEAD4,TSPAN9 chr12 3056818 3265990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEAD4,TSPAN9 chr12 30590449 30590481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230598399 230608713 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 30600000 33200000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 AMN1,BICD1,CAPRIN2,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,LOC100287314,METTL20,PKP2,RNU6-78,TSPAN11,YARS2 chr12 30600000 33200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMN1,BICD1,CAPRIN2,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,LOC100287314,METTL20,PKP2,RNU6-78,TSPAN11,YARS2 chr12 30600000 33200000 Duplication microdeletion syndrome array-CGH 16199537 AMN1,BICD1,CAPRIN2,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,LOC100287314,METTL20,PKP2,RNU6-78,TSPAN11,YARS2 chr1 230600334 230763927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 230600334 230763927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 230606000 230646000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 NOT_FOUND chr1 230608470 230816977 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COG2 chr12 30621784 30621854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230622747 230646364 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 230622747 230648969 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 230622747 230653919 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 230633630 230634604 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 2306716 2307602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MORN1 chr12 30673188 30740018 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 30673190 30740018 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 30673190 30740018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 30673190 30740018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 30675001 30740018 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 30700000 35800000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ALG10,AMN1,BICD1,CAPRIN2,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,LOC100287314,METTL20,PKP2,RNU6-78,SYT10,TSPAN11,YARS2 chr12 30706795 34650850 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ALG10,AMN1,BICD1,CAPRIN2,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,IPO8,KIAA1551,LOC100287314,METTL20,PKP2,RNU6-78,SYT10,TSPAN11,YARS2 chr12 30730104 30730204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230736737 230816977 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COG2 chr1 230750603 230816977 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COG2 chr1 230750762 230809944 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COG2 chr12 30753752 30798715 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 IPO8 chr12 30753755 30798715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IPO8 chr12 30753755 30798715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IPO8 chr12 30753755 30798715 Gain and loss Pancreatic cancer SNP array 17952125 IPO8 chr12 30753755 30798715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO8 chr1 230755320 230755408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230755603 230822649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COG2 chr1 230758029 230758123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 230799185 230799622 Gain and loss Pancreatic cancer SNP array 17952125 COG2 chr12 30809553 30810034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IPO8 chr12 30811046 30844513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IPO8 chr1 23081357 23081436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB2 chr1 230816269 230826517 Gain and loss Pancreatic cancer SNP array 17952125 COG2 chr12 30817433 30817533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IPO8 chr1 230833794 230921584 Gain and loss Pancreatic cancer SNP array 17952125 AGT,CAPN9 chr12 30836646 32565912 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AMN1,BICD1,CAPRIN2,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,FAM60A,FLJ13224,H3F3C,IPO8,KIAA1551,LOC100287314,METTL20,RNU6-78,TSPAN11 chr1 230838285 230838380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGT chr12 30840769 30840869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IPO8 chr1 230842153 230842466 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGT chr12 30864812 30865202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPRIN2 chr1 230879617 230896471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAPN9 chr1 230883213 230883313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPN9 chr12 30896624 30896724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPRIN2 chr1 2309001 2327500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MORN1,RER1 chr1 230902591 230902676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN9 chr1 230903199 230903390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAPN9 chr12 30904229 30904261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPRIN2 chr12 30909063 31425167 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-766K arrays 21546498 DDX11,DDX11-AS1,LOC100287314,TSPAN11 chr1 23091292 23155489 Gain and loss Pancreatic cancer SNP array 17952125 EPHB2 chr12 30914111 30914379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 230921834 230921879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPN9 chr1 230942035 230942135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 30963667 30999916 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 30971104 31040803 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 30971105 31036722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 30971105 31036722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 30998193 31036117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 30998193 31036150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 30999223 32594050 Amplification Cancer Affymetrix 250K Sty array 20164920 AMN1,BICD1,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,FAM60A,FLJ13224,H3F3C,KIAA1551,METTL20,RNU6-78,TSPAN11 chr12 3100000 10000000 Gain Medulloblastoma SNP arrays 21979893 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,AKAP3,ANO2,APOBEC1,ATN1,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,FAM66C,FAM86FP,FAM90A1,FGF23,FGF6,FOXJ2,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KCNA1,KCNA5,KCNA6,KLRB1,KLRF1,KLRG1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NOP2,NTF3,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRMT8,PTMS,PTPN6,PZP,RAD51AP1,RBP5,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TEAD4,TNFRSF1A,TPI1,TSPAN9,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 3100000 5300000 Gain Adenocarcinoma array-CGH 19607727 AKAP3,C12orf4,C12orf5,CCND2,DYRK4,EFCAB4B,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,PARP11,PRMT8,RAD51AP1,TEAD4,TSPAN9 chr12 3100000 5300000 Gain Squamous cell cancer array-CGH 19607727 AKAP3,C12orf4,C12orf5,CCND2,DYRK4,EFCAB4B,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,PARP11,PRMT8,RAD51AP1,TEAD4,TSPAN9 chr1 231007812 231012715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 231007812 231012715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 31016734 31364408 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11,DDX11-AS1,TSPAN11 chr12 31016734 31382371 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 DDX11,DDX11-AS1,TSPAN11 chr12 31016734 31382371 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11,DDX11-AS1,TSPAN11 chr12 31017001 31056500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 231030861 231064481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC13 chr1 231034386 231034556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 231035755 231035884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31039974 31040804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 31039974 31040804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 231049513 231052006 Gain and loss Pancreatic cancer SNP array 17952125 TTC13 chr12 31074521 32839444 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AMN1,BICD1,DDX11,DDX11-AS1,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,KIAA1551,METTL20,RNU6-78,TSPAN11 chr12 31080522 31080622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN11 chr12 31089219 31364408 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11,DDX11-AS1,TSPAN11 chr12 31089219 31382371 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11,DDX11-AS1,TSPAN11 chr12 31092781 31092881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN11 chr12 31095013 31140322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSPAN11 chr12 31099426 31099525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN11 chr12 31114751 31168000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSPAN11 chr12 31118046 31148992 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSPAN11 chr12 31118046 31148999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSPAN11 chr12 31118046 31148999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN11 chr12 31118077 31148999 Gain and loss Pancreatic cancer SNP array 17952125 TSPAN11 chr12 31118098 31221786 Copy number Lung cancer paired-end sequencing 18438408 DDX11-AS1,TSPAN11 chr1 231119604 231120387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARV1 chr12 31121068 31121174 Gain and loss Pancreatic cancer SNP array 17952125 TSPAN11 chr12 31121068 31121192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN11 chr12 31124225 31293957 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX11,DDX11-AS1,TSPAN11 chr12 31124225 31293957 Duplication Normal Affymetrix 6.0 microarrays 20967226 DDX11,DDX11-AS1,TSPAN11 chr12 31124225 31298378 Duplication Normal Affymetrix 6.0 microarrays 20967226 DDX11,DDX11-AS1,TSPAN11 chr12 31132516 31223665 Deletion Sertoli-cell only syndrome Array-CGH 20877625 DDX11-AS1,TSPAN11 chr12 31133139 31298372 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr12 31133139 31298372 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr12 31133139 31299266 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr12 31133139 31299266 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr1 231133297 231133392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARV1 chr12 31139746 31300945 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr12 31139746 31300945 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr12 31145473 31299266 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr12 31145473 31300945 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr12 31145473 31314698 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1,TSPAN11 chr12 31152965 31298390 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX11,DDX11-AS1 chr1 231152993 231180842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM89A,MIR1182 chr1 231152993 231180842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM89A,MIR1182 chr12 31153974 31300945 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1 chr12 31155649 31155724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 31155854 31245435 Gain and loss Pancreatic cancer SNP array 17952125 DDX11,DDX11-AS1 chr12 31155860 31167847 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 31155860 31167847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 31155860 31167847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 31156437 31245435 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DDX11,DDX11-AS1 chr12 31156437 31250355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX11,DDX11-AS1 chr12 31156437 31250355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX11,DDX11-AS1 chr12 31157431 31300945 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1 chr12 31158795 31244857 Gain Autism 1M Ailent CGH whole-genome array 21865298 DDX11,DDX11-AS1 chr12 31158795 31244857 Loss Autism 1M Ailent CGH whole-genome array 21865298 DDX11,DDX11-AS1 chr12 31158909 31244857 Gain Autism 1M Ailent CGH whole-genome array 21865298 DDX11,DDX11-AS1 chr12 31158909 31244857 Loss Autism 1M Ailent CGH whole-genome array 21865298 DDX11,DDX11-AS1 chr12 31159180 31244197 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DDX11,DDX11-AS1 chr12 31160462 31242543 Gain Normal 244K array 17666407 DDX11,DDX11-AS1 chr12 31160565 31298390 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX11,DDX11-AS1 chr1 231163726 231361905 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C1orf131,FAM89A,LOC149373,TRIM67 chr12 31168001 31259000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX11,DDX11-AS1 chr12 31168683 31245051 Loss Autism 1M Ailent CGH whole-genome array 21865298 DDX11,DDX11-AS1 chr12 31168683 31245371 Loss Autism 1M Ailent CGH whole-genome array 21865298 DDX11,DDX11-AS1 chr12 31169298 31282170 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DDX11,DDX11-AS1 chr12 31169298 31298378 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DDX11,DDX11-AS1 chr12 31169298 31298378 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDX11,DDX11-AS1 chr12 31169503 31190912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DDX11-AS1 chr12 31172513 31298076 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX11,DDX11-AS1 chr12 31173884 31299266 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1 chr1 231176426 231176526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 31178316 31301566 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1 chr12 31178316 31301566 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1 chr1 231180061 231292050 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 231180061 231434698 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1orf131,GNPAT,LOC149373,TRIM67 chr1 231180061 231434698 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1orf131,GNPAT,LOC149373,TRIM67 chr12 31180399 31299266 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1 chr12 31180399 31300945 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1 chr12 31180399 31300945 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX11,DDX11-AS1 chr12 31182841 31298378 Duplication Normal Affymetrix 6.0 microarrays 20967226 DDX11,DDX11-AS1 chr12 31182841 31298378 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DDX11,DDX11-AS1 chr1 231186505 231498082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf131,EXOC8,GNPAT,LOC149373,SPRTN,TRIM67 chr1 231186505 231498082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf131,EXOC8,GNPAT,LOC149373,SPRTN,TRIM67 chr1 231193456 231193526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 231201786 231202334 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31202207 31382371 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11,DDX11-AS1 chr1 231231869 231231969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 31237462 31300945 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11 chr12 31237462 31300945 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX11 chr12 31246631 31300945 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX11 chr12 31246631 31300945 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX11 chr12 31247316 31279220 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DDX11 chr12 31247316 31302088 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DDX11 chr12 31251267 31290591 Substitutions and indels small cell lung cancer array-CGH 20016488 DDX11 chr12 31257714 33743256 Copy number Lung cancer paired-end sequencing 18438408 AMN1,BICD1,DDX11,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,KIAA1551,METTL20,PKP2,RNU6-78,SYT10,YARS2 chr12 31259001 31281500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 31264657 31293961 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 31264657 31293961 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 231280455 231280552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 231280455 231280556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31281501 31368000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 31295607 33268575 Substitutions and indels small cell lung cancer array-CGH 20016488 AMN1,BICD1,DENND5B,DENND5B-AS1,DNM1L,FAM60A,FGD4,FLJ13224,H3F3C,KIAA1551,METTL20,PKP2,RNU6-78,YARS2 chr12 31296190 31296797 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31296190 31296800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2313074 2326734 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MORN1,RER1 chr1 2313074 2326734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MORN1,RER1 chr1 2313074 2326734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MORN1,RER1 chr12 31319605 31319848 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 31324794 31370386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31324796 31370386 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 31324796 31370386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 31324796 31370386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 231346669 231346970 Gain and loss Pancreatic cancer SNP array 17952125 TRIM67 chr12 31347918 31348006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31347918 31348006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 231349023 231349103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM67 chr1 231351502 231583153 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf131,EGLN1,EXOC8,GNPAT,SPRTN,TRIM67 chr12 31353756 31353937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 31353759 31353859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 31361233 31394647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 23136534 23136634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB2 chr12 31368001 31370500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 231368385 231389271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf131,GNPAT chr12 31368517 31370146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31368690 31369899 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 31368690 31369899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 31378662 31378752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 31406640 31406795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 31410452 31410567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31410465 31410567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 231414166 231441686 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 31426424 31635219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DENND5B,FAM60A,FLJ13224 chr12 31426424 31635219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND5B,FAM60A,FLJ13224 chr12 31428985 31635219 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DENND5B,FAM60A,FLJ13224 chr12 31428985 31738553 Gain and loss Pancreatic cancer SNP array 17952125 DENND5B,FAM60A,FLJ13224 chr1 231435577 231435677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 31440591 31440702 Gain and loss Pancreatic cancer SNP array 17952125 FAM60A chr12 31440591 31440702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM60A chr12 31440592 31440702 Gain and loss Pancreatic cancer SNP array 17952125 FAM60A chr1 231443857 231443942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 3144585 3144685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEAD4 chr12 31457501 31634000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DENND5B,FAM60A,FLJ13224 chr12 31469 69793 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 31469 94614 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100288778 chr1 231484438 231484572 Gain and loss Pancreatic cancer SNP array 17952125 SPRTN chr1 231488266 231517841 Gain and loss Pancreatic cancer SNP array 17952125 EGLN1,SPRTN chr1 231491237 231491816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 231491237 231491816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 31494371 31494473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 31494371 31494473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23149675 23168352 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPHB2 chr1 23150463 23167258 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EPHB2 chr1 23152129 23162300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB2 chr1 23152861 23758803 LOH Normal High-resolution SNP genotyping 21211785 ASAP3,C1orf213,EPHB2,HNRNPR,HTR1D,KDM1A,LOC729059,LUZP1,MIR3115,MIR4253,TCEA3,ZNF436 chr1 231530137 231587517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGLN1 chr1 231530137 231587517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGLN1 chr12 31542156 31542251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DENND5B chr1 231545634 231545734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGLN1 chr12 31550504 31550605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND5B chr12 31550505 31550605 Gain and loss Pancreatic cancer SNP array 17952125 DENND5B chr12 31550506 31550605 Gain and loss Pancreatic cancer SNP array 17952125 DENND5B chr1 23159500 23180929 Gain and loss Pancreatic cancer SNP array 17952125 EPHB2 chr1 231598701 231618172 Gain and loss Pancreatic cancer SNP array 17952125 SNRPD2P2 chr1 231604854 231604886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 231617159 231617293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 3162001 3271000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSPAN9 chr1 231621069 231817541 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,LINC00582,TSNAX,TSNAX-DISC1 chr12 31638293 31638407 Gain and loss Pancreatic cancer SNP array 17952125 DENND5B chr12 31638294 31638407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND5B chr12 31638304 31638404 Gain and loss Pancreatic cancer SNP array 17952125 DENND5B chr12 31659969 31660640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND5B chr12 31664994 31665296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DENND5B chr12 31685533 31685631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DENND5B chr12 31686533 31720489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DENND5B chr12 31703388 31717299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DENND5B chr12 31703388 31717299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND5B chr12 31703388 31717310 Gain and loss Pancreatic cancer SNP array 17952125 DENND5B chr12 31703388 32053809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AMN1,DENND5B,DENND5B-AS1,H3F3C,METTL20 chr12 31715345 31773319 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DENND5B,DENND5B-AS1 chr12 31715345 31773319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DENND5B,DENND5B-AS1 chr12 31715345 31773319 Gain and loss Pancreatic cancer SNP array 17952125 DENND5B,DENND5B-AS1 chr12 31715345 31773319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DENND5B,DENND5B-AS1 chr1 231725913 232136544 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DISC1,DISC2,LINC00582,TSNAX-DISC1 chr12 31744690 31744744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DENND5B-AS1 chr12 31759123 34007171 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMN1,BICD1,DENND5B-AS1,DNM1L,FGD4,H3F3C,KIAA1551,METTL20,PKP2,RNU6-78,SYT10,YARS2 chr12 31759123 34007171 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMN1,BICD1,DENND5B-AS1,DNM1L,FGD4,H3F3C,KIAA1551,METTL20,PKP2,RNU6-78,SYT10,YARS2 chr12 31798049 31803394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 METTL20 chr12 31798921 31799322 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 231816372 231874607 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 DISC1,TSNAX-DISC1 chr1 231816373 231874607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DISC1,TSNAX-DISC1 chr1 231816373 231874607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DISC1,TSNAX-DISC1 chr1 231816706 231833507 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr1 231824002 231824102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DISC1,TSNAX-DISC1 chr12 31833256 31877875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AMN1 chr12 31835960 31836367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AMN1 chr12 31835960 31836367 Gain and loss Pancreatic cancer SNP array 17952125 AMN1 chr12 31835960 31836367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMN1 chr1 231838408 231838508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DISC1,TSNAX-DISC1 chr1 23183977 23211560 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 EPHB2,MIR4253 chr1 23184170 23184270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB2 chr12 31843427 31845753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AMN1 chr1 231844002 231844102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DISC1,TSNAX-DISC1 chr12 31847159 31847253 Gain and loss Pancreatic cancer SNP array 17952125 AMN1 chr12 31847159 31847253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMN1 chr12 31855268 31855391 Gain and loss Pancreatic cancer SNP array 17952125 AMN1 chr1 231856812 231938321 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr1 231869134 231869199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DISC1,TSNAX-DISC1 chr12 31869813 31869913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMN1 chr12 31877881 31878466 Loss Normal 244K array 17666407 AMN1 chr12 31885197 31920019 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 31885599 31887076 Loss Normal 244K array 17666407 NOT_FOUND chr12 31887053 31949230 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 H3F3C chr1 231898201 231922280 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DISC1,TSNAX-DISC1 chr12 31909391 31920085 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 3191090 3191344 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSPAN9 chr12 3191090 3191344 Gain and loss Pancreatic cancer SNP array 17952125 TSPAN9 chr1 231912591 231912651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DISC1,TSNAX-DISC1 chr1 231926982 231927087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DISC1,TSNAX-DISC1 chr1 231931757 231932087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DISC1,TSNAX-DISC1 chr12 31932436 31953020 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 H3F3C chr1 231938418 231938515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DISC1,TSNAX-DISC1 chr1 231939288 231993822 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,DISC2,TSNAX-DISC1 chr1 23194930 23195030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB2 chr12 31959768 31987859 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 31968063 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-764K arrays 21546498 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD4,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIAA1551,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-78,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr1 23200000 28800000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 AHDC1,AIM1L,ARID1A,ASAP3,ATPIF1,AUNIP,C1orf172,C1orf213,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,DHDDS,DNAJC8,E2F2,EPHB2,EXTL1,EYA3,FAM110D,FAM46B,FAM54B,FAM76A,FCN3,FGR,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,HNRNPR,HTR1D,ID3,IFI6,IL22RA1,IL28RA,KDM1A,LDLRAP1,LIN28A,LOC100506963,LOC284632,LOC644961,LOC646471,LOC729059,LUZP1,LYPLA2,MAN1C1,MAP3K6,MDS2,MED18,MIR1976,MIR3115,MIR378F,MIR3917,MYOM3,NCMAP,NIPAL3,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PHACTR4,PIGV,PITHD1,PNRC2,PPP1R8,PTAFR,RCAN3,RCAN3AS,RHCE,RHD,RPA2,RPL11,RPS6KA1,RUNX3,SCARNA1,SEPN1,SESN2,SFN,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SRRM1,SRSF10,STMN1,STPG1,STX12,SYF2,SYTL1,TCEA3,TCEB3,THEMIS2,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBXN11,WASF2,WDTC1,XKR8,ZDHHC18,ZNF436,ZNF593,ZNF683 chr12 32003619 32037308 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 32003620 32037306 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 32003620 32037306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 32003620 32037306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 232016517 232019178 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DISC1,TSNAX-DISC1 chr1 232026792 232026860 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr1 232027401 232031900 Deletion Glioma mate-paired sequence 20126413 DISC1,TSNAX-DISC1 chr1 232029187 232029253 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr1 232029254 232029312 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr12 32029259 32037306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 232029314 232029381 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr1 232031030 232031096 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr1 232038449 232038801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DISC1,TSNAX-DISC1 chr1 232040174 232140095 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr12 32076200 32076429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 32076304 32076404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 32076441 32076641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 232107447 232526872 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DISC1,TSNAX-DISC1 chr1 232107447 232526872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DISC1,TSNAX-DISC1 chr1 232107447 232526872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DISC1,TSNAX-DISC1 chr1 232138120 232138209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DISC1,TSNAX-DISC1 chr1 232141133 232141233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DISC1,TSNAX-DISC1 chr1 232149925 232150341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DISC1,TSNAX-DISC1 chr1 232150391 232372957 Gain and loss Pancreatic cancer SNP array 17952125 DISC1,TSNAX-DISC1 chr12 32151448 32422408 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BICD1 chr12 32151448 32422408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BICD1 chr12 32151448 32422408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BICD1 chr12 32151452 32422078 Gain and loss Pancreatic cancer SNP array 17952125 BICD1 chr12 3216240 3282845 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TSPAN9 chr12 32178526 32180818 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 23218533 23282771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHB2 chr1 23218533 23282771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB2 chr12 32187436 32426171 Copy number Lung cancer paired-end sequencing 18438408 BICD1 chr1 232203705 232222184 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 232229220 232229596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 32233605 32233705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 32247541 32281987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BICD1 chr12 32266126 32266220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BICD1 chr1 232288780 232971380 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 KIAA1383,SIPA1L2 chr12 32291703 32291803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BICD1 chr12 32334323 32334427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BICD1 chr1 232334433 233629882 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KIAA1383,KIAA1804,NTPCR,PCNXL2,SIPA1L2 chr1 23234203 23404496 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EPHB2,KDM1A,LOC729059,MIR3115 chr1 23234503 23234609 Gain and loss Pancreatic cancer SNP array 17952125 EPHB2 chr1 232352627 232352765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 232352674 232352791 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 232352707 232352788 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 23235752 23235836 Gain and loss Pancreatic cancer SNP array 17952125 EPHB2 chr1 232373046 232373122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 232382461 232382561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 232384422 232386460 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr1 232384422 232386460 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 232385268 232386370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 232385802 232386274 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 32392925 32392978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BICD1 chr1 232404756 232404862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 232416501 232418000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 32440251 32440348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BICD1 chr12 32440253 32440348 Gain and loss Pancreatic cancer SNP array 17952125 BICD1 chr12 3244089 3279231 Gain Autism qPCR,Affy500K (Marshall AJHG 2008), Illumina 1M 20531469 TSPAN9 chr12 32441238 34325341 Copy number Lung cancer paired-end sequencing 18438408 ALG10,BICD1,DNM1L,FGD4,PKP2,SYT10,YARS2 chr1 232465182 232554432 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1L2 chr1 232491280 232491380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 232526850 233617929 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 KIAA1383,KIAA1804,NTPCR,PCNXL2,SIPA1L2 chr12 32546360 32684940 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FGD4 chr12 32546361 32684940 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGD4 chr12 32546361 32684940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGD4 chr12 32546361 32684940 Gain and loss Pancreatic cancer SNP array 17952125 FGD4 chr12 32546361 32684940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGD4 chr1 232550018 232550107 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1L2 chr1 232550018 232550111 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1L2 chr1 232559073 232559510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L2 chr1 232559073 232559510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L2 chr1 232575836 232586415 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SIPA1L2 chr1 232575836 232586416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L2 chr1 232575836 232586416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L2 chr1 232575897 232586414 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 SIPA1L2 chr12 32577224 33886076 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 DNM1L,FGD4,PKP2,SYT10,YARS2 chr1 232580921 232591459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIPA1L2 chr1 232583561 232599418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIPA1L2 chr1 232584562 232597814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIPA1L2 chr1 232584814 232604408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIPA1L2 chr1 232584853 232604168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIPA1L2 chr1 232587551 232587777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1L2 chr1 232587761 232587994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1L2 chr1 232593681 232681472 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 SIPA1L2 chr1 232593682 232681472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SIPA1L2 chr1 232593682 232681472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L2 chr1 232593682 232681472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L2 chr12 32608190 33527270 LOH Normal High-resolution SNP genotyping 21211785 DNM1L,FGD4,PKP2,YARS2 chr1 2326103 2333870 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RER1 chr1 2326103 2333870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RER1 chr1 2326103 2333870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RER1 chr1 232631915 232698247 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1L2 chr1 23264885 23266018 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 23265113 23869113 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ASAP3,C1orf213,E2F2,HNRNPR,HTR1D,KDM1A,LOC729059,LUZP1,MIR3115,TCEA3,ZNF436 chr1 232653826 232654135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 232669917 234247146 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 KCNK1,KIAA1383,KIAA1804,MIR4427,NTPCR,PCNXL2,SLC35F3 chr12 32698305 33888475 LOH Normal High-resolution SNP genotyping 21211785 DNM1L,FGD4,PKP2,SYT10,YARS2 chr1 232706502 232771326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 232707626 233302391 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-264K arrays 21546498 KIAA1383,NTPCR,PCNXL2 chr12 32713873 32755794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FGD4 chr12 32723403 32789851 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FGD4 chr12 32723491 32788621 Gain and loss Pancreatic cancer SNP array 17952125 FGD4 chr12 32723491 32789297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGD4 chr12 32723491 32789297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGD4 chr12 32723491 32789297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGD4 chr12 32749604 32749707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGD4 chr12 32749606 32749707 Gain and loss Pancreatic cancer SNP array 17952125 FGD4 chr12 32749607 32749707 Gain and loss Pancreatic cancer SNP array 17952125 FGD4 chr1 2327501 2342000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PEX10,RER1 chr1 232757121 232757296 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 232757121 232757299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 232769353 232775962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 327694 860805 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 B4GALNT3,CCDC77,KDM5A,NINJ2,SLC6A13 chr1 232770219 232774658 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 32770731 32771588 Gain and loss Pancreatic cancer SNP array 17952125 FGD4 chr12 32772526 32772605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD4 chr12 32788348 32800077 Gain and loss Pancreatic cancer SNP array 17952125 FGD4 chr12 32790743 32800141 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FGD4 chr12 32790746 32800141 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGD4 chr12 32790746 32800141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGD4 chr12 32790746 32800141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGD4 chr1 232795644 232795771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 232806638 232811894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 232806638 232811894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 232806638 232811894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 32810218 33350428 LOH Normal High-resolution SNP genotyping 21211785 DNM1L,PKP2,YARS2 chr1 232810941 232813883 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 23283110 23367897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM1A,LOC729059 chr1 23283110 23367897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM1A,LOC729059 chr1 232834654 234059648 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 KCNK1,KIAA1383,KIAA1804,MIR4427,NTPCR,PCNXL2,SLC35F3 chr12 32834946 32941047 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 DNM1L,YARS2 chr12 32834947 32941047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM1L,YARS2 chr12 32834947 32941047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM1L,YARS2 chr12 32834954 32941041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNM1L,YARS2 chr12 32834954 32941041 Gain and loss Pancreatic cancer SNP array 17952125 DNM1L,YARS2 chr1 232838225 232880291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 32838481 33527270 LOH Normal High-resolution SNP genotyping 21211785 DNM1L,PKP2,YARS2 chr1 23284965 23285060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 32853101 32857000 Deletion Glioma mate-paired sequence 20126413 DNM1L chr12 32854867 32855181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNM1L chr12 32859603 32922971 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DNM1L,YARS2 chr1 232883721 232974049 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1383 chr12 3290908 3291008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN9 chr12 32910755 34034465 LOH Normal High-resolution SNP genotyping 21211785 PKP2,SYT10 chr12 3292001 3314000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSPAN9 chr12 32923505 37887818 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr12 32923505 37917052 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr12 32927903 34181407 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr12 32927903 34199985 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr12 32927903 38614677 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr12 32930628 32930687 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr12 32943385 37609407 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr1 232947387 232947487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 32949427 38312712 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr12 32954990 33943650 Insert Cancer ultra-high resolution array CGH 21272361 PKP2,SYT10 chr12 32959279 33718909 LOH Normal High-resolution SNP genotyping 21211785 PKP2,SYT10 chr1 232961674 232962222 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 32964525 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr12 32971998 34555244 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr1 232978568 233024889 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 3300000 10100000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,AKAP3,ANO2,APOBEC1,ATN1,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,FAM66C,FAM86FP,FAM90A1,FGF23,FGF6,FOXJ2,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KCNA1,KCNA5,KCNA6,KLRB1,KLRF1,KLRF2,KLRG1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NOP2,NTF3,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRMT8,PTMS,PTPN6,PZP,RAD51AP1,RBP5,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TNFRSF1A,TPI1,TSPAN9,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 3300000 5400000 Deletion Colorectal cancer GISTIC software 19359472 AKAP3,C12orf4,C12orf5,CCND2,DYRK4,EFCAB4B,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,PARP11,PRMT8,RAD51AP1,TSPAN9 chr1 233007606 233039037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 33008383 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,PKP2,SYT10 chr12 3301284 3301384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN9 chr1 233013444 233013839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 233013731 233013831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 233022501 247149600 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACTN2,ADSS,AHCTF1,AKT3,ARID4B,B3GALNT2,C1orf100,C1orf101,C1orf31,CEP170,CHML,CHRM3,CNST,COX20,DESI2,EDARADD,EFCAB2,ERO1LB,EXO1,FH,FMN2,GGPS1,GNG4,GPR137B,GREM2,HEATR1,HNRNPU,HNRNPU-AS1,IRF2BP2,KCNK1,KIAA1804,KIF26B,KMO,LGALS8,LGALS8-AS1,LINC00184,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC255654,LOC339529,LOC339535,LOC731275,LYST,MAP1LC3C,MIR1537,MIR3123,MIR4427,MIR4671,MIR4677,MIR4753,MTR,NID1,NTPCR,OPN3,PCNXL2,PLD5,RBM34,RGS7,RPS7P5,RYR2,SCCPDH,SDCCAG8,SLC35F3,SMYD3,SNORA14B,TARBP1,TBCE,TFB2M,TOMM20,WDR64,ZNF238,ZNF670-ZNF695,ZNF695,ZP4 chr1 23302295 23302330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 233040012 233093436 Gain and loss Pancreatic cancer SNP array 17952125 NTPCR chr1 233040343 233040443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 33053741 38569446 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33078001 33079500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 233103480 233103580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTPCR chr1 233106556 233106856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTPCR chr1 233106557 233106858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTPCR chr12 33113269 33113326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 33128615 37547852 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 3314001 3616500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRMT8,TSPAN9 chr1 233140248 233140348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNXL2 chr12 33164795 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr1 23316564 23317030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 33168383 33202105 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33172942 33206150 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 23317319 23321760 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 233175840 233253281 Gain and loss Pancreatic cancer SNP array 17952125 PCNXL2 chr12 33180817 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33185900 33199614 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 33187821 33198633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 233188505 233222567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNXL2 chr12 33188799 33198205 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 33188799 33198205 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 33191058 33192672 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 33191058 33198629 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 33191058 33198641 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 33191058 33286685 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 33192424 33197122 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr12 33192672 33192673 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 33192673 33198641 Copy number Alcoholism Affymetrix SNP6.0 genotyping array 22295116 NOT_FOUND chr12 33192673 33198641 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 33192673 33199627 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 233198562 233228306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNXL2 chr12 33198641 33199856 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 33200000 35400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALG10,SYT10 chr12 33200000 35400000 Duplication Intellectual disability - 22045946 ALG10,SYT10 chr1 233202327 233211263 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNXL2 chr1 233202536 233226428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNXL2 chr1 233219225 233249724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNXL2 chr1 233226640 233271564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNXL2 chr12 33229250 33286409 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 33229250 33286685 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 233237413 233237448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNXL2 chr12 33254062 33292880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33255540 34594981 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33255540 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33255715 33307180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33255857 33297129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33259772 33296621 Copy number Alcoholism Illumina Human Hap673W-Quad BeadChip 21790672 NOT_FOUND chr12 33259772 33296621 Copy number Normal - 21790672 NOT_FOUND chr12 33266004 33302542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33267134 33310067 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33267568 33300966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33270866 33286685 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 33275283 33287583 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr12 33277086 33290319 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 33277097 33286409 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 33277097 33286685 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 33280084 33286397 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 33280084 33286673 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 233284759 233390003 Gain and loss Pancreatic cancer SNP array 17952125 PCNXL2 chr1 233285692 233300068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNXL2 chr12 33293343 33741363 Substitutions and indels small cell lung cancer array-CGH 20016488 SYT10 chr12 33297431 37700013 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr1 233307347 233307393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNXL2 chr1 233308977 233309487 Gain and loss Pancreatic cancer SNP array 17952125 PCNXL2 chr12 33317069 38553025 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33318702 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr1 233321620 233322758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCNXL2 chr12 33325795 33326028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 33325798 33325913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 233327125 233327350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCNXL2 chr12 33330614 34258448 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33330614 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33330614 37320195 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr1 233332820 233358113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNXL2 chr12 33333291 34462575 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALG10,SYT10 chr1 233339282 233358754 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PCNXL2 chr1 233339283 233358754 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PCNXL2 chr1 233339283 233358754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCNXL2 chr1 233339283 233358754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCNXL2 chr12 33349718 33394367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 233350639 233350739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNXL2 chr1 233357741 233357875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCNXL2 chr1 233361121 233391395 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PCNXL2 chr1 233361573 233391194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCNXL2 chr1 233361573 233391194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCNXL2 chr1 233365023 233365206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCNXL2 chr1 233379883 233379983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNXL2 chr12 33386404 33609650 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 SYT10 chr12 33387485 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr1 233390261 233393273 Gain and loss Pancreatic cancer SNP array 17952125 PCNXL2 chr1 23339200 23356245 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM1A,LOC729059 chr1 233396833 233558155 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIAA1804,PCNXL2 chr1 233396833 233558155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1804,PCNXL2 chr1 233396833 233558155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1804,PCNXL2 chr1 23340366 23353019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM1A,LOC729059 chr12 33406327 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33418964 33419064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 33419615 33484021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 33419627 33484021 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 33419627 33484021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 33419627 33484021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 33420568 33420851 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 33433748 34170956 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 SYT10 chr12 33445758 38677361 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr12 33449346 34008011 Deletion Normal Affymetrix 6.0 microarrays 20967226 SYT10 chr12 33451172 37823885 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr1 23346532 23358079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM1A chr1 23346594 23354376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM1A chr1 23347017 23350716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM1A chr1 233470678 233471049 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1804 chr1 23347985 23350309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM1A chr1 23348039 23352775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM1A chr1 233490090 233490190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1804 chr1 233493528 233493713 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1804 chr1 233518911 233519146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1804 chr1 233519148 233519275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1804 chr1 233525803 233526271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 33539291 33539371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT10 chr12 33548635 33727028 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 SYT10 chr1 233558376 233574463 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 233558376 233574463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 233558376 233574463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 233566744 233567025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 33578280 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10,SYT10 chr1 233591091 233592198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 233597351 233678901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 233597351 233678901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 233597351 233678901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 33599947 33604138 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 33606386 33608232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 233610148 233610354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 33610270 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10 chr1 23361784 23361890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM1A chr12 33620297 33620403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 33620308 33620402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 33624212 33624312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 23363033 23363117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM1A chr12 33664940 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10 chr12 33664940 37507613 LOH Normal High-resolution SNP genotyping 21211785 ALG10 chr1 233679890 233734404 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 233679890 233734404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 233679890 233734404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 33698227 33698319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 233708925 233712697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33715360 33715862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 33721768 37735375 LOH Normal High-resolution SNP genotyping 21211785 ALG10 chr12 33744406 33744619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 33746259 37141683 Substitutions and indels small cell lung cancer array-CGH 20016488 ALG10 chr1 233747162 233752430 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KCNK1 chr1 233749892 233750606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr12 33758341 37140268 Copy number Lung cancer paired-end sequencing 18438408 ALG10 chr1 233759838 234321988 Gain and loss Pancreatic cancer SNP array 17952125 KCNK1,MIR4427,SLC35F3 chr12 33760000 48640000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABCD2,ADAMTS20,ALG10,ALG10B,AMIGO2,ANO6,ARID2,ASB8,C12orf40,C12orf68,CNTN1,COL2A1,CPNE8,DBX2,ENDOU,GXYLT1,HDAC7,IRAK4,KIF21A,LOC400027,LRRK2,MIR4698,NELL2,OR10AD1,PCED1B,PCED1B-AS1,PDZRN4,PFKM,PLEKHA8P1,PPHLN1,PRICKLE1,PUS7L,RACGAP1P,RAPGEF3,RNY5,RPAP3,SCAF11,SENP1,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC48A1,TMEM106C,TMEM117,TWF1,VDR,YAF2,ZCRB1 chr12 33766388 33766488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 233767374 233767442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233767443 233767964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233767972 233769768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233769769 233769835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233769836 233769894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233769896 233769963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233769974 233771341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233771343 233771629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233771612 233771678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233771682 233772020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233772067 233772313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233777610 233880677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233777610 233880677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK1 chr1 233780755 233880677 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNK1 chr12 33801893 33832865 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 23381583 23416109 Gain and loss Pancreatic cancer SNP array 17952125 KDM1A,LUZP1 chr1 233818063 233822014 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 3384140 3384240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN9 chr1 233844597 233846322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 233845007 235028439 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf31,IRF2BP2,LINC00184,LOC100506795,LOC100506810,MIR4671,SLC35F3,TARBP1 chr12 33884264 34084037 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 33888475 34396498 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ALG10 chr1 233890964 234096843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr1 233890964 234096843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr1 233890964 234113563 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC35F3 chr1 233890968 234060340 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 SLC35F3 chr1 23389580 23393809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM1A chr1 23389580 23393809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM1A chr12 33901327 33901422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 33901591 33910185 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33905819 33910822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 33914038 36144018 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ALG10 chr1 233939349 233939868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 3394093 3630092 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 PRMT8,TSPAN9 chr12 33967576 33967682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 33967576 33967682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 233967928 233968911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23397351 233678903 Copy number Autism exome sequencing 22495311 ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACBD3,ACBD6,ACOT11,ACP6,ACTA1,ACTG1P4,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,AGBL4,AGL,AGT,AHCYL1,AHDC1,AIDA,AIM1L,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALDH9A1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARID1A,ARL8A,ARNT,ARPC5,ARTN,ARV1,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAPS1,AVPR1B,AXDND1,B3GALT2,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf27,C1orf35,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf65,C1orf68,C1orf74,C1orf85,C1orf87,C1orf88,C1orf94,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAP1,CAPN2,CAPN8,CAPN9,CAPZA1,CASQ1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCSAP,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDC14A,CDC20,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK18,CDKN2C,CELF3,CELSR2,CENPF,CENPL,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHI3L2,CHIA,CHIT1,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLIC4,CLK2,CLSPN,CMPK1,CNIH3,CNIH4,CNKSR1,CNN3,CNR2,CNTN2,COG2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTPS1,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DDX59,DEDD,DEGS1,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,E2F2,EBNA1BP2,ECHDC2,ECM1,EDEM3,EDN2,EFCAB7,EFNA1,EFNA3,EFNA4,EGLN1,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,ENAH,ENSA,EPB41,EPHA10,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXOC8,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM177B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ39739,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GADD45A,GALE,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPR,HOOK1,HORMAD1,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HTR1D,HYDIN2,HYI,IARS2,IBA57,ID3,IER5,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF6,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1522,KIAA1614,KIAA1804,KIF14,KIF21B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC8A,KLHDC9,KLHL12,KLHL20,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAP1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGR6,LHX4,LHX8,LHX9,LIN28A,LIN9,LINC00210,LINC00260,LINC00272,LINC00303,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130093,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC148696,LOC148709,LOC149086,LOC149373,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284688,LOC339442,LOC339524,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728463,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD2A,MFSD4,MGC27382,MGST3,MIA3,MIER1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR320B1,MIR320B2,MIR3605,MIR3620,MIR3658,MIR3659,MIR3671,MIR378F,MIR3917,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR4420,MIR4422,MIR4423,MIR4424,MIR4654,MIR4666A,MIR4711,MIR4735,MIR4742,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS15,MRPS21,MSH4,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUTYH,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NASP,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NIPAL3,NIT1,NKAIN1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD7B,OVGP1,OXCT2,PABPC4,PAFAH2,PALMD,PAPPA2,PAQR6,PAQR7,PARP1,PARS2,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3R3,PIN1P1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G4A,PLEKHA6,PLEKHO1,PLK3,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PRCC,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM8A,RBMXL1,RC3H1,RCAN3,RCAN3AS,RCC1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RHOU,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF187,RNF19B,RNF2,RNF220,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMPDL3B,SMYD2,SNAP47,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA6,SPHAR,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRG7,SRGAP2,SRGAP2B,SRP9,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARS2,TATDN3,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFB2,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM206,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM63A,TMEM69,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIM67,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC13,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2T,UBE2U,UBL4B,UBQLN4,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,URB2,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,UTP11L,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WASF2,WDR26,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT3A,WNT9A,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF678,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNF847P,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 233973835 233973935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 33990155 34000218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 33994514 35400000 LOH Normal High-resolution SNP genotyping 21211785 ALG10 chr12 33999830 34396498 Copy number gain Normal High-resolution SNP genotyping 21211785 ALG10 chr12 34026667 34026768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 34026669 34026768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 34026671 34026767 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 34034465 38245615 LOH Normal High-resolution SNP genotyping 21211785 ALG10 chr1 234040678 234460261 Deletion Prostate cancer aCGH 22341455 MIR4671,SLC35F3 chr1 234044381 234044506 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr12 34066483 34072501 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 34066483 34072501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 34066483 34072501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 234070393 234070552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr1 234070551 234070651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr1 234070559 234070823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr12 34071470 34071564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 234082923 234082983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr1 234084664 234103390 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC35F3 chr1 234084664 234111389 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC35F3 chr1 234084664 234149200 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC35F3 chr12 34085666 34127052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 234090580 234111389 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC35F3 chr1 234092338 234092805 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234097659 234097739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr12 34098276 34108937 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 34098679 34108083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 34099623 34107572 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 3410281 3443641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 234121199 234121536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC35F3 chr1 234121215 234121552 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SLC35F3 chr12 34131258 34147976 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 234141685 234141785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr1 234143016 234143116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr1 234145338 234145444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr12 34147976 34155356 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 34149501 34154000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34151710 37232578 Gain Normal 244K array 17666407 ALG10 chr12 3416361 3450455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 34181407 34225669 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 34191385 34191700 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 34199985 34239432 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 2342001 2348000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PEX10 chr1 234205764 234295104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC35F3 chr1 234205764 234295104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr1 234205764 234295104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr12 34206001 34211000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34209745 34209846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 34209745 34209846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 34211001 34247000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34225669 38614677 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 234231065 234231165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr1 23423298 23436531 Amplification or deletion Cancer Array CGH 17440070 LUZP1 chr12 34235019 34436532 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34239432 38614677 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 34247001 34258000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34247220 34252719 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 34249901 34250019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 34249901 34250019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 34249901 34250021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 2342542 2342642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEX10 chr12 34258001 34264000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34258448 34314793 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 34259136 34259226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 34263581 34263878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 34263581 34263878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 234267835 235094143 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1orf31,IRF2BP2,LINC00184,LOC100506795,LOC100506810,MIR4671,SLC35F3,TARBP1 chr1 234268582 234268785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC35F3 chr12 34287501 34332500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34309736 34436532 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34309736 34448844 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 23431248 23441241 Gain and loss Pancreatic cancer SNP array 17952125 LUZP1 chr1 234314080 235417931 Duplication Developmental delay array CGH 20808231 ARID4B,C1orf31,IRF2BP2,LINC00184,LOC100506795,LOC100506810,MIR4671,MIR4753,RBM34,SLC35F3,SNORA14B,TARBP1,TOMM20 chr1 234314080 235417931 Duplication Obesity array CGH 20808231 ARID4B,C1orf31,IRF2BP2,LINC00184,LOC100506795,LOC100506810,MIR4671,MIR4753,RBM34,SLC35F3,SNORA14B,TARBP1,TOMM20 chr12 34314793 35400000 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 34317966 34442242 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34321943 34431524 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 34326231 34430576 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34326231 34436532 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34326231 34436532 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34326231 34442242 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34326231 34450564 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34332501 34396500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34336057 34436532 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34336057 34436532 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34336057 34448844 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34336057 34448844 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34336057 34450564 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34336057 34450564 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34336057 34469553 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34339726 34453108 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 234339969 234340235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr1 234345904 234346452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC35F3 chr12 34346826 34430576 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 34346826 34469553 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34348463 34448844 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 234348676 234349772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC35F3 chr12 34355724 34404034 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 34355724 34414938 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 34355724 34423989 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 34355724 34440373 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 234356314 234356383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr1 234369709 234369809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F3 chr1 234371751 234379976 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234372497 234440790 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC35F3 chr1 234372497 234440790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr1 234372497 234440790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F3 chr12 34386077 34467964 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 34396498 35400000 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 34396498 36830927 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 34396501 34451500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34406743 34406851 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 34406743 34406851 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 34406744 34406852 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 23440766 23443584 Gain and loss Pancreatic cancer SNP array 17952125 LUZP1 chr12 34411042 34414213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234416172 234416946 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 23442053 23442140 Gain and loss Pancreatic cancer SNP array 17952125 LUZP1 chr1 23442053 23442146 Gain and loss Pancreatic cancer SNP array 17952125 LUZP1 chr1 234429497 234432673 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC35F3 chr1 234430415 234430480 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234430480 234430545 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234430578 234430650 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234430652 234430720 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234430730 234430797 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234431834 234431901 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234431903 234431974 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234431972 234432038 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234432997 234433071 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234434634 234434697 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234435379 234435637 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234435657 234435728 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 23443836 23444311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LUZP1 chr1 234438490 234438554 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234440884 234440952 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr1 234440953 234441010 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F3 chr12 34442316 34442416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 34443840 34610176 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34444430 34444618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234447084 234511908 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf31,SLC35F3 chr1 234447084 234511908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf31,SLC35F3 chr1 234447084 234511908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf31,SLC35F3 chr12 34451501 34640000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34466271 34711193 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr12 34469066 34610176 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34470574 36528696 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr12 34478196 34478285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234485578 234485678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 34489443 34489522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 34490582 34610176 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34494037 34494375 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234497703 234497881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 34502766 34610176 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 34505515 34505604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234509212 234509537 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 C1orf31 chr1 234509428 234519790 Deletion Prostate cancer aCGH 22341455 C1orf31 chr1 234515899 234516883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf31 chr1 234516282 234516382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf31 chr12 34523940 34524080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234527058 234614848 Deletion Prostate cancer aCGH 22341455 TARBP1 chr12 34554071 34554586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234562257 234562407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TARBP1 chr1 23457835 23714048 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 C1orf213,HNRNPR,HTR1D,LUZP1,TCEA3,ZNF436 chr1 234600000 241700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTN2,ARID4B,B3GALNT2,CHRM3,EDARADD,ERO1LB,FH,FMN2,GGPS1,GNG4,GPR137B,GREM2,HEATR1,IRF2BP2,KMO,LGALS8,LGALS8-AS1,LINC00184,LOC100130331,LOC100506795,LOC100506810,LOC339535,LYST,MIR1537,MIR3123,MIR4753,MTR,NID1,RBM34,RGS7,RPS7P5,RYR2,SNORA14B,TARBP1,TBCE,TOMM20,ZP4 chr1 234600000 241700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTN2,ARID4B,B3GALNT2,CHRM3,EDARADD,ERO1LB,FH,FMN2,GGPS1,GNG4,GPR137B,GREM2,HEATR1,IRF2BP2,KMO,LGALS8,LGALS8-AS1,LINC00184,LOC100130331,LOC100506795,LOC100506810,LOC339535,LYST,MIR1537,MIR3123,MIR4753,MTR,NID1,RBM34,RGS7,RPS7P5,RYR2,SNORA14B,TARBP1,TBCE,TOMM20,ZP4 chr1 234600000 241700000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ACTN2,ARID4B,B3GALNT2,CHRM3,EDARADD,ERO1LB,FH,FMN2,GGPS1,GNG4,GPR137B,GREM2,HEATR1,IRF2BP2,KMO,LGALS8,LGALS8-AS1,LINC00184,LOC100130331,LOC100506795,LOC100506810,LOC339535,LYST,MIR1537,MIR3123,MIR4753,MTR,NID1,RBM34,RGS7,RPS7P5,RYR2,SNORA14B,TARBP1,TBCE,TOMM20,ZP4 chr1 234600000 241700000 Loss Myxofibrosarcoma Array CGH 16751306 ACTN2,ARID4B,B3GALNT2,CHRM3,EDARADD,ERO1LB,FH,FMN2,GGPS1,GNG4,GPR137B,GREM2,HEATR1,IRF2BP2,KMO,LGALS8,LGALS8-AS1,LINC00184,LOC100130331,LOC100506795,LOC100506810,LOC339535,LYST,MIR1537,MIR3123,MIR4753,MTR,NID1,RBM34,RGS7,RPS7P5,RYR2,SNORA14B,TARBP1,TBCE,TOMM20,ZP4 chr1 234600000 247249719 Gain Non-small cell lung cancer dChip 21829676 ACTN2,ADSS,AHCTF1,AKT3,ARID4B,B3GALNT2,C1orf100,C1orf101,CEP170,CHML,CHRM3,CNST,COX20,DESI2,EDARADD,EFCAB2,ERO1LB,EXO1,FH,FMN2,GGPS1,GNG4,GPR137B,GREM2,HEATR1,HNRNPU,HNRNPU-AS1,IRF2BP2,KIF26B,KMO,LGALS8,LGALS8-AS1,LINC00184,LOC100130331,LOC100506795,LOC100506810,LOC149134,LOC255654,LOC339529,LOC339535,LOC731275,LYST,MAP1LC3C,MIR1537,MIR3123,MIR4677,MIR4753,MTR,NID1,OPN3,PLD5,RBM34,RGS7,RPS7P5,RYR2,SCCPDH,SDCCAG8,SMYD3,SNORA14B,TARBP1,TBCE,TFB2M,TOMM20,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695,ZP4 chr1 234613701 234620000 Deletion Glioma mate-paired sequence 20126413 TARBP1 chr1 234615710 234617952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234624303 234714631 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100506795 chr1 234624303 234714631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506795 chr1 234624303 234714631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506795 chr1 234625339 234714631 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100506795 chr1 234625339 234714631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506795 chr1 234625339 234714631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506795 chr12 34627391 34627489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 34640001 34652000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34640488 34687383 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 3464189 3464288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234643814 234643914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 34643879 34646696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234648143 234679649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100506795 chr12 34658501 34722000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 234661549 234661873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 3466281 3466667 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 3466281 3466667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 3466401 4070974 Copy number Lung cancer paired-end sequencing 18438408 EFCAB4B,PARP11,PRMT8 chr12 3470686 3573392 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRMT8 chr12 3470686 3573392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRMT8 chr12 3470686 3573392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRMT8 chr12 3471018 3573394 Gain and loss Pancreatic cancer SNP array 17952125 PRMT8 chr12 34711601 35445300 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 34718281 34718416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 34722001 35445500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 234723496 234723547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 234726362 234726462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 34727000 37367000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 NOT_FOUND chr1 234737847 234737929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234740014 234745270 Deletion Prostate cancer aCGH 22341455 IRF2BP2 chr1 234748188 234779619 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00184 chr1 234748188 234779619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00184 chr1 234748188 234779619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00184 chr12 34751574 34751648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234754026 234754421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 234757835 234757936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 34758331 34758431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 3476306 4384402 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CCND2,EFCAB4B,PARP11,PRMT8 chr12 3477270 3519653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRMT8 chr1 234780593 234834437 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 234780594 234834437 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 234780594 234834437 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr1 234780594 234834437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 234780594 234834437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2348001 2436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLCH2 chr1 234804931 234805026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234805573 234805698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234805733 234805765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234805734 234805894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234811369 234811464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234815028 234815110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 234815741 234816376 Gain Ewing's sarcoma Array CGH 19144156 NOT_FOUND chr1 234843401 234843481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 234866416 234866448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506810 chr1 2348973 2352104 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 234916422 234993863 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 234916422 234993863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 234916422 234993863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 234978374 234991515 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 234980653 234981366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 234981469 234981910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 234984301 234988400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 234985508 234987166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 235000000 235100000 Gain Acute lymphoblastic leukemia - 21339820 NOT_FOUND chr12 35000000 69000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 AAAS,ABCD2,ACVR1B,ACVRL1,ADAMTS20,ADCY6,AGAP2,ALG10B,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf40,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COX14,CPNE8,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DYRK2,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,GXYLT1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,IRAK4,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF21A,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LRRK2,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR548C,MIR548Z,MIR615,MIRLET7I,MLL2,MMP19,MON2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPHLN1,PPM1H,PPP1R1A,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PUS7L,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,TWF1,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YAF2,ZBTB39,ZC3H10,ZCRB1,ZNF385A,ZNF641,ZNF740 chr1 23500362 23556004 Gain and loss Pancreatic cancer SNP array 17952125 HTR1D chr1 235025341 235130585 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 235025341 235130585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 235025341 235130585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 235027978 236048893 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARID4B,B3GALNT2,GGPS1,GNG4,LYST,MIR1537,MIR4753,RBM34,SNORA14B,TBCE,TOMM20 chr1 235027978 237598197 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTN2,ARID4B,B3GALNT2,EDARADD,ERO1LB,GGPS1,GNG4,GPR137B,HEATR1,LGALS8,LGALS8-AS1,LYST,MIR1537,MIR4753,MTR,NID1,RBM34,RYR2,SNORA14B,TBCE,TOMM20 chr1 235049557 235050436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23508863 23543440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HTR1D chr1 23508863 23543440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR1D chr12 3509030 4329030 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 EFCAB4B,PARP11,PRMT8 chr1 235107037 235107137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 235108534 235108634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 235130884 235131321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 235130892 235131068 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 3517792 3811527 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB4B,PRMT8 chr1 235190798 235198138 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 235211262 235211631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 235211262 235211631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 235234110 235234295 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 235234110 235234295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 235258326 235258416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 235272128 236063911 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARID4B,B3GALNT2,GGPS1,GNG4,LYST,MIR1537,MIR4753,RBM34,SNORA14B,TBCE,TOMM20 chr1 235272128 236063911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID4B,B3GALNT2,GGPS1,GNG4,LYST,MIR1537,MIR4753,RBM34,SNORA14B,TBCE,TOMM20 chr1 235272128 236063911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID4B,B3GALNT2,GGPS1,GNG4,LYST,MIR1537,MIR4753,RBM34,SNORA14B,TBCE,TOMM20 chr1 235272655 235292255 Deletion Prostate cancer aCGH 22341455 SNORA14B,TOMM20 chr1 235294497 235324570 Deletion Prostate cancer aCGH 22341455 RBM34 chr1 235332527 235376780 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARID4B,MIR4753 chr1 235350730 235350936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID4B chr12 3535219 3535382 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRMT8 chr12 35400000 132349534 Amplification Breast cancer - 21949216 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Amplification Carcinoma ex pleomorphic adenoma array-CGH 18828159 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Gain Ewing's sarcoma CGH(Reference) 21437220 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Gain Glioblastoma multiforme aCGH 21080181 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Gain Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Loss Astrocytoma CGH 17387387 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Loss Breast cancer aCGH 21264507 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Loss Glioblastoma multiforme aCGH 21080181 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 132349534 Loss Glioblastoma multiforme CGH 19960244 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 35400000 36251938 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 36798287 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-756K arrays 21546498 NOT_FOUND chr12 35400000 36951454 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 37685131 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 37700013 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 37706779 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 37713736 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 37735375 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 37823885 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 37950837 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 37955050 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 38480388 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 38686365 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 35400000 38727996 LOH Normal High-resolution SNP genotyping 21211785 ALG10B chr1 235420602 235420702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID4B chr12 35445501 36212000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 235537560 237086860 Deletion Intellectual disability Array CGH 22102821 ACTN2,B3GALNT2,EDARADD,ERO1LB,GNG4,GPR137B,HEATR1,LGALS8,LGALS8-AS1,LYST,MIR1537,MTR,NID1,TBCE chr1 2355434 2367350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 23558528 23568944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23558528 23568944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 3559945 4457860 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf5,CCND2,EFCAB4B,PARP11,PRMT8 chr12 3559945 5261654 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP3,C12orf4,C12orf5,CCND2,DYRK4,EFCAB4B,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,PARP11,PRMT8,RAD51AP1 chr1 23563260 23566736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 23568051 23576771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23568051 23576771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23569334 23569426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 3576257 3607066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRMT8 chr1 23578228 23603019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 235784963 235785088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG4 chr1 23578586 23578686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 23579510 23623848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23579510 23623848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 35800000 133851895 Gain Gastrointestinal stromal cancer CGH 20470368 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EP400,EP400NL,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GALNT9,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOC4L,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PUS7L,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF385A,ZNF605,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740,ZNF84 chr12 35800000 133851895 Loss Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EP400,EP400NL,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GALNT9,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOC4L,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PUS7L,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF385A,ZNF605,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740,ZNF84 chr1 235832920 235833387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYST chr1 235850830 237390561 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACTN2,EDARADD,ERO1LB,GPR137B,HEATR1,LGALS8,LGALS8-AS1,LYST,MIR1537,MTR,NID1,RYR2 chr1 235875218 237932584 Loss Prostate cancer Array CGH 18632612 ACTN2,EDARADD,ERO1LB,GPR137B,HEATR1,LGALS8,LGALS8-AS1,LYST,MIR1537,MTR,NID1,RYR2 chr12 3591070 3591417 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRMT8 chr12 3596086 3613157 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRMT8 chr12 3596086 3613157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRMT8 chr12 3598584 3732524 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB4B,PRMT8 chr1 236014314 236014670 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LYST chr1 236040008 236040216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 36054250 39573122 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALG10B,CPNE8 chr1 236092135 236715545 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EDARADD,ERO1LB,GPR137B,HEATR1,LGALS8,LGALS8-AS1,NID1 chr1 23609912 23611232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 236103914 236199247 Gain Normal Birdsuite, version 1.5.2 22087296 NID1 chr1 236112333 236120558 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 236112333 236120558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 236112333 236120558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 36142962 36439696 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 36142962 36470532 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 36142962 37321303 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 236157002 236157310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr12 3616501 5995000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKAP3,ANO2,C12orf4,C12orf5,CCND2,DYRK4,EFCAB4B,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,NTF3,PARP11,PRMT8,RAD51AP1 chr1 236167640 236167725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NID1 chr1 236170997 236171062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236171160 236171232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236171234 236171302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236171312 236171379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236172416 236172483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236172485 236172556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236173579 236173653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236175216 236175279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236176239 236176310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr12 36176534 36176594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 236177926 236179066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236179072 236179136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236179137 236179657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236179659 236181459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236181466 236181534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr1 236181535 236181592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID1 chr12 3620916 3621016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT8 chr12 36212001 36276000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 36215494 36358741 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 36216093 36439696 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 236248686 236248786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 36251938 36855602 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 36252688 36457433 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 36254290 36893059 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 36254340 36394308 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 36254340 36447707 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 36260029 36457433 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 236263778 236263853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 36268344 36786353 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 36268344 36807946 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 36268344 36807946 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 36268344 36893059 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 36268344 36893059 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 36268344 36928269 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 3627370 3732524 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB4B,PRMT8 chr12 3627370 3732524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4B,PRMT8 chr12 3627370 3732524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4B,PRMT8 chr1 236275849 236275949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 36276001 36338500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 23627643 23683285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPR chr1 23627643 23683285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPR chr1 23629762 23631591 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36300273 36566556 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 236310000 236970000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ACTN2,EDARADD,ERO1LB,GPR137B,HEATR1,LGALS8,LGALS8-AS1,MTR chr1 236311521 236311621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR137B chr12 36320613 36457433 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr12 36330000 36690000 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr1 236333860 236336139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR137B chr1 236337659 236338490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR137B chr12 36338501 36367500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 36354551 36355573 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 36357175 36411114 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr12 36367501 36413500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 236383313 236384744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERO1LB chr1 236393398 236393481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERO1LB chr12 36393834 36714381 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 236396636 236398756 Gain and loss Pancreatic cancer SNP array 17952125 ERO1LB chr12 36413501 36441500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 236418263 236418398 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERO1LB chr12 36447501 36572500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 36448735 36640126 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 236462128 236463423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 236493596 236766636 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EDARADD,HEATR1,LGALS8,LGALS8-AS1 chr1 236496865 236502601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 236498417 236498518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 36499372 36784412 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr12 36500000 44600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCD2,ADAMTS20,ALG10B,C12orf40,CNTN1,CPNE8,GXYLT1,IRAK4,KIF21A,LRRK2,PDZRN4,PPHLN1,PRICKLE1,PUS7L,SLC2A13,TMEM117,TWF1,YAF2,ZCRB1 chr12 36500000 44600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCD2,ADAMTS20,ALG10B,C12orf40,CNTN1,CPNE8,GXYLT1,IRAK4,KIF21A,LRRK2,PDZRN4,PPHLN1,PRICKLE1,PUS7L,SLC2A13,TMEM117,TWF1,YAF2,ZCRB1 chr12 36500000 44600000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCD2,ADAMTS20,ALG10B,C12orf40,CNTN1,CPNE8,GXYLT1,IRAK4,KIF21A,LRRK2,PDZRN4,PPHLN1,PRICKLE1,PUS7L,SLC2A13,TMEM117,TWF1,YAF2,ZCRB1 chr12 36500000 44600000 Gain Cancer array-based techniques 21183584 ABCD2,ADAMTS20,ALG10B,C12orf40,CNTN1,CPNE8,GXYLT1,IRAK4,KIF21A,LRRK2,PDZRN4,PPHLN1,PRICKLE1,PUS7L,SLC2A13,TMEM117,TWF1,YAF2,ZCRB1 chr12 36500000 56300000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 AAAS,ABCD2,ACVR1B,ACVRL1,ADAMTS20,ADCY6,ALG10B,AMHR2,AMIGO2,ANKRD33,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5G2,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf40,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CELA1,CERS5,CNTN1,COL2A1,COPZ1,COX14,CPNE8,CSAD,CSRNP2,DAZAP2,DBX2,DCD,DDN,DDX23,DHH,DIP2B,DNAJC14,DNAJC22,EIF4B,ENDOU,ESPL1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLYCAM1,GPD1,GPR84,GRASP,GTSF1,GXYLT1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,IRAK4,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF21A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRRK2,MAP3K12,MCRS1,METTL7A,METTL7B,MFSD5,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,NCKAP1L,NCKAP5L,NELL2,NEUROD4,NFE2,NPFF,NR4A1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PFDN5,PFKM,PLEKHA8P1,POU6F1,PPHLN1,PPP1R1A,PRICKLE1,PRKAG1,PRPF40B,PRPH,PRR13,PUS7L,RACGAP1,RACGAP1P,RAPGEF3,RARG,RDH5,RHEBL1,RND1,RNY5,RPAP3,SARNP,SCAF11,SCN8A,SENP1,SLC11A2,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SMAGP,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SOAT2,SP1,SP7,SPATS2,SPRYD3,TARBP2,TENC1,TESPA1,TFCP2,TMBIM6,TMEM106C,TMEM117,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,TWF1,VDR,WIBG,WNT1,WNT10B,YAF2,ZCRB1,ZNF385A,ZNF641,ZNF740 chr12 36524940 36544404 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr12 36528296 36801139 Gain Normal Illumina 300K SNP 19997636 NOT_FOUND chr12 3654488 3654588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT8 chr12 36545986 36689836 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 236555610 236555692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 36563087 36563403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 36565610 36578346 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 36578501 36623500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 236582636 236973242 Gain and loss Pancreatic cancer SNP array 17952125 ACTN2,EDARADD,HEATR1,LGALS8,LGALS8-AS1,MTR chr12 36594 975398 Loss Developmental delay affymetrix genechip 500K/SNP 6.51 array 21147756 B4GALNT3,CCDC77,FAM138D,IQSEC3,KDM5A,LOC100288778,LOC574538,NINJ2,SLC6A12,SLC6A13,WNK1 chr1 236600000 243700000 Amplification Hepatocellular carcinoma Array CGH 16750200 ACTN2,AKT3,CEP170,CHML,CHRM3,EDARADD,EXO1,FH,FMN2,GREM2,HEATR1,KMO,LGALS8,LGALS8-AS1,LOC100130331,LOC339535,LOC731275,MAP1LC3C,MIR3123,MIR4677,MTR,OPN3,PLD5,RGS7,RPS7P5,RYR2,SDCCAG8,WDR64,ZP4 chr1 236600000 243700000 Gain Arrhythmogenic right ventricular cardiomyopathy references 17576883 ACTN2,AKT3,CEP170,CHML,CHRM3,EDARADD,EXO1,FH,FMN2,GREM2,HEATR1,KMO,LGALS8,LGALS8-AS1,LOC100130331,LOC339535,LOC731275,MAP1LC3C,MIR3123,MIR4677,MTR,OPN3,PLD5,RGS7,RPS7P5,RYR2,SDCCAG8,WDR64,ZP4 chr1 236600000 249250621 Gain and amplification Multiple myeloma Array CGH 16616336 ACTN2,ADSS,AHCTF1,AKT3,C1orf100,C1orf101,C1orf229,CEP170,CHML,CHRM3,CNST,COX20,DESI2,EDARADD,EFCAB2,EXO1,FH,FMN2,GCSAML,GCSAML-AS1,GREM2,HEATR1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LGALS8,LGALS8-AS1,LOC100130331,LOC149134,LOC255654,LOC339529,LOC339535,LOC731275,LYPD8,MAP1LC3C,MIR3123,MIR3124,MIR3916,MIR4677,MTR,NLRP3,OPN3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PGBD2,PLD5,RGS7,RPS7P5,RYR2,SCCPDH,SDCCAG8,SH3BP5L,SMYD3,TFB2M,TRIM58,VN1R5,WDR64,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF692,ZNF695,ZP4 chr12 36623501 36705500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 236632008 236632628 Gain and loss Pancreatic cancer SNP array 17952125 EDARADD chr1 236633694 236650323 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EDARADD chr1 236643993 236644113 Gain and loss Pancreatic cancer SNP array 17952125 EDARADD chr1 236643994 236644113 Gain and loss Pancreatic cancer SNP array 17952125 EDARADD chr12 36658379 36658550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 236659446 236691468 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 LGALS8,LGALS8-AS1 chr12 3669163 3669859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRMT8 chr12 36705446 46407096 Copy number Lung cancer paired-end sequencing 18438408 ABCD2,ADAMTS20,ALG10B,ANO6,ARID2,C12orf40,CNTN1,CPNE8,DBX2,GXYLT1,IRAK4,KIF21A,LOC400027,LRRK2,NELL2,PDZRN4,PLEKHA8P1,PPHLN1,PRICKLE1,PUS7L,RACGAP1P,RNY5,SCAF11,SLC2A13,TMEM117,TWF1,YAF2,ZCRB1 chr12 36705501 36829500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 236710323 236715947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HEATR1,LGALS8 chr1 236710323 236715947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR1,LGALS8 chr1 236721511 236722441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR1 chr1 236760028 236767813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HEATR1 chr1 23677479 23677579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 36784412 37297484 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr12 36798287 37145743 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-757K arrays 21546498 NOT_FOUND chr1 236817257 236818823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 36817715 36818197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36817715 36818197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23682227 23683902 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 36828288 36899347 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 36829501 36844000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 236830751 236830817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36830927 132349534 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 36830927 132349534 Copy number gain Normal High-resolution SNP genotyping 21211785 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr1 2368405 2376172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36841533 36841651 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36841535 36841651 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36841535 36841651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 36843470 36843584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36843472 36843584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36843472 36843584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 36844001 36881500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 36860465 37089322 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 36868380 37459741 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 36881501 36886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 36882964 36883067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 36882964 36883073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36882964 36883073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 36886001 38351500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 236893915 236894015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTN2 chr1 236917532 236921700 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ACTN2 chr1 23691804 23692013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF436 chr1 236918890 236922717 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ACTN2 chr1 236918931 236919873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACTN2 chr12 36931839 36965538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 36947182 36955164 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 36954519 36954618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36954521 36954617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36963675 37424739 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr12 36964153 38571318 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 236979832 237101430 Gain and loss Pancreatic cancer SNP array 17952125 MTR chr12 36996823 37009795 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 36996824 37001523 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 36996824 37001523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 36996824 37009794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 36996824 37009794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 37001635 37001729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 237006972 237009123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTR chr12 37027288 38491846 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 237049465 237049565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTR chr12 37052371 44611667 Deletion Acute myeloid leukemia - 21251322 ABCD2,ADAMTS20,ALG10B,C12orf40,CNTN1,CPNE8,GXYLT1,IRAK4,KIF21A,LRRK2,PDZRN4,PPHLN1,PRICKLE1,PUS7L,SLC2A13,TMEM117,TWF1,YAF2,ZCRB1 chr1 23705508 23730300 Amplification Lung cancer Bayesian Detection of Shared Aberrations for aCGH 21512611 TCEA3 chr1 23705509 23730300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCEA3 chr1 23705509 23730300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCEA3 chr12 3705648 3705754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 3705670 3705754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 3705670 3705754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23710905 23712345 Gain and loss Pancreatic cancer SNP array 17952125 TCEA3 chr1 23712003 23712141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCEA3 chr1 237142695 237142818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 237142705 237142818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 37147539 48304383 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCD2,ADAMTS20,ALG10B,AMIGO2,ANO6,ARID2,C12orf40,CNTN1,CPNE8,DBX2,ENDOU,GXYLT1,HDAC7,IRAK4,KIF21A,LOC400027,LRRK2,MIR4698,NELL2,PCED1B,PCED1B-AS1,PDZRN4,PLEKHA8P1,PPHLN1,PRICKLE1,PUS7L,RACGAP1P,RAPGEF3,RNY5,RPAP3,SCAF11,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC48A1,TMEM117,TWF1,VDR,YAF2,ZCRB1 chr12 37157751 131222981 Copy number Lung cancer paired-end sequencing 18438408 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 37168185 37510509 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 37173408 37174408 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 237187661 237187768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 237187661 237187769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 237205701 237997288 Gain Sudden cardiac death CGH 19188705 RYR2 chr1 23722899 23723146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCEA3 chr1 237264856 237845117 Gain and loss Pancreatic cancer SNP array 17952125 RYR2 chr1 237277197 237277297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr12 37282278 37312244 Amplified Liposarcoma FISH, CGH 21253554 NOT_FOUND chr1 237282671 237282826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RYR2 chr12 37297484 37782052 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr12 37303350 37798991 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 3731174 3731226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EFCAB4B chr12 37332259 37587449 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 37332259 37587449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 37332259 37587449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 37332259 37587499 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 37346998 38237769 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr12 37363135 37719045 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 3737642 3737710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB4B chr1 237382210 237382308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr12 37399415 37430093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 23742532 23752104 Gain and loss Pancreatic cancer SNP array 17952125 TCEA3 chr1 237459374 237459731 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 RYR2 chr12 37470626 37502089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 237484117 237484208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 237522838 237522938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr12 37531207 38480388 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 37547852 51093742 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCD2,ADAMTS20,ADCY6,ALG10B,AMIGO2,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,BCDIN3D,BCDIN3D-AS1,C12orf40,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CERS5,CNTN1,COL2A1,COX14,CPNE8,DBX2,DDN,DDX23,DHH,DIP2B,DNAJC22,ENDOU,FAIM2,FAM186A,FAM186B,FKBP11,FMNL3,GPD1,GXYLT1,H1FNT,HDAC7,IRAK4,KANSL2,KCNH3,KIF21A,LALBA,LARP4,LIMA1,LMBR1L,LOC100335030,LOC255411,LOC283332,LOC400027,LRRK2,MCRS1,MIR1291,MIR1293,MIR4698,MIR4701,MLL2,NCKAP5L,NELL2,OR10AD1,OR8S1,PCED1B,PCED1B-AS1,PDZRN4,PFKM,PLEKHA8P1,PPHLN1,PRICKLE1,PRKAG1,PRPF40B,PRPH,PUS7L,RACGAP1,RACGAP1P,RAPGEF3,RHEBL1,RND1,RNY5,RPAP3,SCAF11,SENP1,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TMBIM6,TMEM106C,TMEM117,TROAP,TUBA1A,TUBA1B,TUBA1C,TWF1,VDR,WNT1,WNT10B,YAF2,ZCRB1,ZNF641 chr12 37547852 51093742 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCD2,ADAMTS20,ADCY6,ALG10B,AMIGO2,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,BCDIN3D,BCDIN3D-AS1,C12orf40,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CERS5,CNTN1,COL2A1,COX14,CPNE8,DBX2,DDN,DDX23,DHH,DIP2B,DNAJC22,ENDOU,FAIM2,FAM186A,FAM186B,FKBP11,FMNL3,GPD1,GXYLT1,H1FNT,HDAC7,IRAK4,KANSL2,KCNH3,KIF21A,LALBA,LARP4,LIMA1,LMBR1L,LOC100335030,LOC255411,LOC283332,LOC400027,LRRK2,MCRS1,MIR1291,MIR1293,MIR4698,MIR4701,MLL2,NCKAP5L,NELL2,OR10AD1,OR8S1,PCED1B,PCED1B-AS1,PDZRN4,PFKM,PLEKHA8P1,PPHLN1,PRICKLE1,PRKAG1,PRPF40B,PRPH,PUS7L,RACGAP1,RACGAP1P,RAPGEF3,RHEBL1,RND1,RNY5,RPAP3,SCAF11,SENP1,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TMBIM6,TMEM106C,TMEM117,TROAP,TUBA1A,TUBA1B,TUBA1C,TWF1,VDR,WNT1,WNT10B,YAF2,ZCRB1,ZNF641 chr1 237569050 237569200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 237569194 237569276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 237569230 237569340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 23757012 23758570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASAP3 chr1 23757012 23758570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASAP3 chr1 23759113 23759212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASAP3 chr12 37593874 37594874 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 37593936 37594236 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 37613230 37614230 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 37614161 37615161 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 237626493 237626568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 23763600 23768221 Gain and loss Pancreatic cancer SNP array 17952125 ASAP3 chr1 237650021 237650121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 2376809 2376903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 37735375 119945217 Copy number gain Normal High-resolution SNP genotyping 21211785 AAAS,ABCD2,ACACB,ACAD10,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CACNB3,CALCOCO1,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC63,CCDC65,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,CORO1C,COX14,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DEPDC4,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYRK2,E2F7,EEA1,EID3,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,FOXN4,FRS2,GALNT4,GALNT6,GAS2L3,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR182,GPR84,GRASP,GRIP1,GTSF1,GXYLT1,H1FNT,HAL,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00592,LINC00615,LLPH,LMBR1L,LOC100130776,LOC100131138,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506844,LOC100507250,LOC100507377,LOC100652999,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC400027,LOC400043,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3652,MIR3685,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4472-2,MIR4497,MIR4698,MIR4699,MIR4701,MIR492,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLL2,MMAB,MMP19,MON2,MRPL42,MRS2P2,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OSBPL8,OTOGL,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RIC8B,RMST,RND1,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPS26,RPSAP52,SARNP,SART3,SCAF11,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SH2B3,SHMT2,SLC11A2,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPRYD3,SPRYD4,SRGAP1,SRRM4,SSH1,STAB2,STAC3,STAT2,STAT6,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM19,TMEM194A,TMEM198B,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBE2N,UBE3B,UHRF1BP1L,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VSIG10,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF740 chr12 37735375 127795646 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AAAS,AACS,ABCB9,ABCD2,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,AGAP2,ALDH1L2,ALDH2,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANO6,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,FOXN4,FRS2,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,GXYLT1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,IRAK4,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF21A,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400027,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LRRK2,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PLA2G1B,PLBD2,PLEKHA8P1,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD9B,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNY5,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SH2B3,SHMT2,SIRT4,SLC11A2,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 37735375 47248027 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCD2,ADAMTS20,ALG10B,ANO6,ARID2,C12orf40,CNTN1,CPNE8,DBX2,GXYLT1,IRAK4,KIF21A,LOC400027,LRRK2,NELL2,PDZRN4,PLEKHA8P1,PPHLN1,PRICKLE1,PUS7L,RACGAP1P,RNY5,SCAF11,SLC2A13,SLC38A1,SLC38A2,SLC38A4,TMEM117,TWF1,YAF2,ZCRB1 chr12 377404 377493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 37744489 37769756 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 37752064 37775663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 37764190 37769406 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 37779425 37813089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 37782052 38722684 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALG10B chr1 237802618 237802718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 237803220 237803554 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 RYR2 chr1 23780571 23839644 Gain or loss Breast cancer - 20668451 ASAP3,E2F2 chr1 23780571 23839644 Gain or loss Cancer - 20668451 ASAP3,E2F2 chr1 23780571 23839644 Gain or loss Lung cancer - 20668451 ASAP3,E2F2 chr1 23780571 23839644 Gain or loss Ovarian cancer - 20668451 ASAP3,E2F2 chr1 23780571 23839644 Gain or loss Pancreas cancer - 20668451 ASAP3,E2F2 chr1 23780571 23839644 Gain or loss Prostate cancer - 20668451 ASAP3,E2F2 chr12 37814223 37815423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 37821407 39116195 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ALG10B,CPNE8 chr1 237823682 237847789 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RYR2 chr12 37832856 38648237 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 37835456 42584684 Duplication Autism Illumina HumanHap559 BeadChip 20858243 ABCD2,ALG10B,C12orf40,CNTN1,CPNE8,GXYLT1,KIF21A,LRRK2,PDZRN4,SLC2A13,YAF2 chr1 237842440 237859886 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RYR2 chr1 237842440 237864971 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RYR2 chr1 237846781 237848485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RYR2 chr1 237851788 238382591 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100130331,RYR2,ZP4 chr1 237858996 238139338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100130331,RYR2,ZP4 chr1 237858996 238139338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130331,RYR2,ZP4 chr1 237858996 238139338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130331,RYR2,ZP4 chr12 3786511 3852863 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB4B chr12 3786511 3852863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4B chr12 3786511 3852863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4B chr12 37872335 38480388 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 237875086 237875186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr12 3788287 3852863 Gain or loss Breast cancer - 20668451 EFCAB4B chr12 3788287 3852863 Gain or loss Cancer - 20668451 EFCAB4B chr12 3788287 3852863 Gain or loss Lung cancer - 20668451 EFCAB4B chr12 3788287 3852863 Gain or loss Ovarian cancer - 20668451 EFCAB4B chr12 3788287 3852863 Gain or loss Pancreas cancer - 20668451 EFCAB4B chr12 3788287 3852863 Gain or loss Prostate cancer - 20668451 EFCAB4B chr12 37886464 38898454 LOH Normal High-resolution SNP genotyping 21211785 ALG10B chr1 23789496 23789596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASAP3 chr12 37900026 37901026 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 237906309 237906383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 237911803 237911888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr12 3791396 3852801 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB4B chr1 237916174 237916274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 237937453 237948988 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RYR2 chr1 237954815 237954915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr12 37955050 38672994 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 37973298 38123185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 37973298 38123190 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 37973298 38123190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 37973298 38123190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 237978001 237997087 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 RYR2 chr1 237986944 238009095 Gain and loss Pancreatic cancer SNP array 17952125 RYR2 chr12 37989971 38686365 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 237994371 237994471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR2 chr1 237996528 244907057 Loss Developmental delay affymetrix genechip 500K/SNP 6.9 array 21147756 ADSS,AKT3,C1orf100,C1orf101,CEP170,CHML,CHRM3,DESI2,EXO1,FH,FMN2,GREM2,KMO,LOC100130331,LOC339529,LOC339535,LOC731275,MAP1LC3C,MIR3123,MIR4677,OPN3,PLD5,RGS7,RPS7P5,RYR2,SDCCAG8,WDR64,ZNF238,ZP4 chr1 23800000 27800000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIM1L,ARID1A,ASAP3,AUNIP,C1orf172,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,DHDDS,E2F2,EXTL1,FAM110D,FAM46B,FAM54B,FCN3,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,ID3,IL22RA1,IL28RA,LDLRAP1,LIN28A,LOC100506963,LOC284632,LOC644961,LOC646471,LYPLA2,MAN1C1,MAP3K6,MDS2,MIR1976,MIR378F,MIR3917,MYOM3,NCMAP,NIPAL3,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,PITHD1,PNRC2,RCAN3,RCAN3AS,RHCE,RHD,RPL11,RPS6KA1,RUNX3,SEPN1,SFN,SH3BGRL3,SLC30A2,SLC9A1,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,TCEB3,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBXN11,WASF2,WDTC1,ZDHHC18,ZNF593,ZNF683 chr1 23800000 27800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIM1L,ARID1A,ASAP3,AUNIP,C1orf172,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,DHDDS,E2F2,EXTL1,FAM110D,FAM46B,FAM54B,FCN3,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,ID3,IL22RA1,IL28RA,LDLRAP1,LIN28A,LOC100506963,LOC284632,LOC644961,LOC646471,LYPLA2,MAN1C1,MAP3K6,MDS2,MIR1976,MIR378F,MIR3917,MYOM3,NCMAP,NIPAL3,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,PITHD1,PNRC2,RCAN3,RCAN3AS,RHCE,RHD,RPL11,RPS6KA1,RUNX3,SEPN1,SFN,SH3BGRL3,SLC30A2,SLC9A1,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,TCEB3,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBXN11,WASF2,WDTC1,ZDHHC18,ZNF593,ZNF683 chr1 23800000 27800000 Deletion with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIM1L,ARID1A,ASAP3,AUNIP,C1orf172,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,DHDDS,E2F2,EXTL1,FAM110D,FAM46B,FAM54B,FCN3,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,ID3,IL22RA1,IL28RA,LDLRAP1,LIN28A,LOC100506963,LOC284632,LOC644961,LOC646471,LYPLA2,MAN1C1,MAP3K6,MDS2,MIR1976,MIR378F,MIR3917,MYOM3,NCMAP,NIPAL3,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,PITHD1,PNRC2,RCAN3,RCAN3AS,RHCE,RHD,RPL11,RPS6KA1,RUNX3,SEPN1,SFN,SH3BGRL3,SLC30A2,SLC9A1,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,TCEB3,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBXN11,WASF2,WDTC1,ZDHHC18,ZNF593,ZNF683 chr1 23800000 27800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIM1L,ARID1A,ASAP3,AUNIP,C1orf172,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,DHDDS,E2F2,EXTL1,FAM110D,FAM46B,FAM54B,FCN3,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,ID3,IL22RA1,IL28RA,LDLRAP1,LIN28A,LOC100506963,LOC284632,LOC644961,LOC646471,LYPLA2,MAN1C1,MAP3K6,MDS2,MIR1976,MIR378F,MIR3917,MYOM3,NCMAP,NIPAL3,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,PITHD1,PNRC2,RCAN3,RCAN3AS,RHCE,RHD,RPL11,RPS6KA1,RUNX3,SEPN1,SFN,SH3BGRL3,SLC30A2,SLC9A1,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,TCEB3,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBXN11,WASF2,WDTC1,ZDHHC18,ZNF593,ZNF683 chr1 23800000 30000000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHDC1,AIM1L,ARID1A,ASAP3,ATPIF1,AUNIP,C1orf172,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,DHDDS,DNAJC8,E2F2,EPB41,EXTL1,EYA3,FAM110D,FAM46B,FAM54B,FAM76A,FCN3,FGR,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,ID3,IFI6,IL22RA1,IL28RA,LDLRAP1,LIN28A,LOC100506963,LOC284632,LOC644961,LOC646471,LYPLA2,MAN1C1,MAP3K6,MDS2,MECR,MED18,MIR1976,MIR378F,MIR3917,MYOM3,NCMAP,NIPAL3,NR0B2,NUDC,OPRD1,PAFAH2,PAQR7,PDIK1L,PHACTR4,PIGV,PITHD1,PNRC2,PPP1R8,PTAFR,PTPRU,RAB42,RCAN3,RCAN3AS,RCC1,RHCE,RHD,RNU11,RPA2,RPL11,RPS6KA1,RUNX3,SCARNA1,SEPN1,SESN2,SFN,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRRM1,SRSF10,SRSF4,STMN1,STPG1,STX12,SYF2,SYTL1,TAF12,TCEB3,THEMIS2,TMEM200B,TMEM222,TMEM50A,TMEM57,TRIM63,TRNAU1AP,TRNP1,UBXN11,WASF2,WDTC1,XKR8,YTHDF2,ZDHHC18,ZNF593,ZNF683 chr1 238015863 238015947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 238021748 238084984 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130331,ZP4 chr1 238024304 238024404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 238038528 245407169 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ADSS,AKT3,C1orf100,C1orf101,CEP170,CHML,CHRM3,COX20,DESI2,EFCAB2,EXO1,FH,FMN2,GREM2,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC100130331,LOC339529,LOC339535,LOC731275,MAP1LC3C,MIR3123,MIR4677,OPN3,PLD5,RGS7,RPS7P5,SDCCAG8,WDR64,ZNF238,ZP4 chr1 2380686 2380973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 238077018 238289711 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC100130331 chr1 238077018 238289711 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC100130331 chr12 38079151 38112883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 238082549 238129689 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130331 chr1 23808405 23808686 Gain and loss Pancreatic cancer SNP array 17952125 ASAP3 chr12 381084 422065 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM5A chr12 381084 422065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM5A chr12 381084 422065 Gain and loss Pancreatic cancer SNP array 17952125 KDM5A chr12 381084 422065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM5A chr1 238109705 238289711 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 238109705 238289711 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 38142661 38143661 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 23815268 23831693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 238171252 238186811 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 238172923 238290558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 3818729 3820060 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB4B chr12 3818729 3820060 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB4B chr12 3818729 3820060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB4B chr12 38200000 49100000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ABCD2,ADAMTS20,ALG10B,AMIGO2,ANO6,ANP32D,ARID2,ASB8,C12orf40,C12orf54,C12orf68,CCNT1,CNTN1,COL2A1,CPNE8,DBX2,ENDOU,GXYLT1,H1FNT,HDAC7,IRAK4,KANSL2,KIF21A,LALBA,LOC400027,LRRK2,MIR1291,MIR4698,NELL2,OR10AD1,OR8S1,PCED1B,PCED1B-AS1,PDZRN4,PFKM,PLEKHA8P1,PPHLN1,PRICKLE1,PUS7L,RACGAP1P,RAPGEF3,RNY5,RPAP3,SCAF11,SENP1,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SNORA2A,SNORA2B,SNORA34,TMEM106C,TMEM117,TWF1,VDR,YAF2,ZCRB1,ZNF641 chr12 38200000 58100000 Deletion Adenoid cystic carcinoma Array CGH 18698036 AAAS,ABCD2,ACVR1B,ACVRL1,ADAMTS20,ADCY6,ALG10B,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf40,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CELA1,CERS5,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COX14,CPNE8,CS,CSAD,CSRNP2,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DTX3,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPD1,GPR182,GPR84,GRASP,GTSF1,GXYLT1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,IRAK4,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF21A,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRP1,LRRK2,MAP3K12,MARS,MBD6,MCRS1,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPHLN1,PPP1R1A,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PUS7L,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAPGEF3,RARG,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC26A10,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,TWF1,VDR,WIBG,WNT1,WNT10B,YAF2,ZBTB39,ZC3H10,ZCRB1,ZNF385A,ZNF641,ZNF740 chr12 38200000 63100000 Loss Breast cancer oligonucleotide CGH arrays 19602461 AAAS,ABCD2,ACVR1B,ACVRL1,ADAMTS20,ADCY6,AGAP2,ALG10B,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf40,C12orf44,C12orf54,C12orf61,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COX14,CPNE8,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DTX3,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPD1,GPR182,GPR84,GRASP,GTSF1,GXYLT1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,IRAK4,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF21A,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LRRK2,MAP3K12,MARCH9,MARS,MBD6,MCRS1,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR615,MIRLET7I,MLL2,MMP19,MON2,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPHLN1,PPM1H,PPP1R1A,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PUS7L,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAPGEF3,RARG,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,TWF1,USP15,VDR,WIBG,WNT1,WNT10B,XRCC6BP1,YAF2,ZBTB39,ZC3H10,ZCRB1,ZNF385A,ZNF641,ZNF740 chr12 38200000 92600000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 AAAS,ABCD2,ACSS3,ACVR1B,ACVRL1,ADAMTS20,ADCY6,AGAP2,ALG10B,ALX1,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP2B1,ATP5B,ATP5G2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BTG1,C12orf10,C12orf29,C12orf40,C12orf44,C12orf50,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CAPS2,CBX5,CCDC59,CCDC65,CCER1,CCNT1,CCT2,CD63,CDK2,CDK4,CELA1,CEP290,CERS5,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COX14,CPM,CPNE8,CPSF6,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DUSP6,DYRK2,E2F7,EIF4B,ENDOU,EPYC,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,FRS2,GALNT4,GALNT6,GDF11,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,GXYLT1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,IRAK4,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KERA,KIF21A,KIF5A,KITLG,KRR1,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LIMA1,LIN7A,LINC00592,LINC00615,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100507250,LOC100507377,LOC100652999,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC400027,LOC400043,LOC728084,LRIG3,LRP1,LRRC10,LRRIQ1,LRRK2,LUM,LYZ,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1228,MIR1252,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR3913-1,MIR3913-2,MIR4698,MIR4699,MIR4701,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR615,MIR617,MIR618,MIRLET7I,MKRN9P,MLL2,MMP19,MON2,MRS2P2,MSRB3,MUCL1,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NTS,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OSBPL8,OTOGL,PA2G4,PAN2,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PFDN5,PFKM,PHLDA1,PIP4K2C,PLEKHA8P1,PMEL,POC1B,POC1B-GALNT4,POU6F1,PPFIA2,PPHLN1,PPM1H,PPP1R12A,PPP1R1A,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PTPRB,PTPRQ,PTPRR,PUS7L,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RASSF9,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SLC6A15,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,SYT1,TAC3,TARBP2,TBC1D15,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM19,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TROAP,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF740 chr1 238202710 238204170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 3821042 3821938 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB4B chr12 38232814 38300237 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 38232814 38300237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38232814 38300237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38232814 38300237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238237447 238243183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23826411 23839643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 E2F2 chr1 238274863 238303669 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 238285847 238303669 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 38289239 38290239 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 38293157 38293483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 38306236 38401981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38306236 38401981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38306239 38401981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 38306252 38401981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38309029 38310029 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 238321603 238711086 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC339535 chr1 238321604 238711086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC339535 chr1 238321604 238711086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339535 chr1 238337576 238379088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38351501 38353000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 38353001 42364750 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCD2,ALG10B,C12orf40,CNTN1,CPNE8,KIF21A,LRRK2,PDZRN4,SLC2A13 chr1 238361987 238377321 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 238369194 238369286 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 238372593 238375312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238384574 238384695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 3839387 3886904 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB4B chr1 238400078 238401214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238414852 238415021 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr12 38433528 38433674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38433528 38433674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38435090 38786158 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALG10B chr12 38435090 38786158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALG10B chr12 38435090 38786158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALG10B chr12 38437305 38529289 Insert Cancer ultra-high resolution array CGH 21272361 NOT_FOUND chr12 38438831 38785928 Gain and loss Pancreatic cancer SNP array 17952125 ALG10B chr1 238442010 238442109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 238447119 238448396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 3845605 3845705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB4B chr1 238457901 238463400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 238458351 238474045 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 238458351 238477487 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 238458351 238478179 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 238458352 238460749 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 238459622 238460498 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 238459623 238461401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 238460504 238461405 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 238460626 238474045 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 238460626 238477487 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 38465005 39117686 LOH Normal High-resolution SNP genotyping 21211785 ALG10B,CPNE8 chr1 238474006 238632996 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 38482382 39117686 LOH Normal High-resolution SNP genotyping 21211785 ALG10B,CPNE8 chr1 238482539 238483026 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 238484833 238488416 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38486706 38994690 LOH Normal High-resolution SNP genotyping 21211785 ALG10B chr12 38487164 38487243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38499819 38499952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38499819 38499952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38499820 38499952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 23850189 23860026 Gain and loss Pancreatic cancer SNP array 17952125 E2F2 chr1 238513296 238513397 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 238519250 238535812 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 238546428 238549618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38547640 39053248 LOH Normal High-resolution SNP genotyping 21211785 ALG10B,CPNE8 chr12 38547640 39146949 LOH Normal High-resolution SNP genotyping 21211785 ALG10B,CPNE8 chr1 238549523 238550121 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 38557243 39310108 LOH Normal High-resolution SNP genotyping 21211785 ALG10B,CPNE8 chr12 38565656 39146949 LOH Normal High-resolution SNP genotyping 21211785 ALG10B,CPNE8 chr1 238571333 238571399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238578080 239014039 Gain and loss Pancreatic cancer SNP array 17952125 LOC339535 chr12 38583007 39011838 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG10B chr12 38587878 38603284 Loss Autism qPCR, Affy 6.0 20531469 NOT_FOUND chr1 238595070 238595153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 38617085 38685502 Deletion Cancer ultra-high resolution array CGH 21272361 NOT_FOUND chr1 238623843 238624800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 23862952 23867333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38635437 38666133 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 23867395 23872524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 238682401 238685500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 238683614 238683935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 238687467 238687542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 38690004 39321384 LOH Normal High-resolution SNP genotyping 21211785 ALG10B,CPNE8 chr1 23869371 23876985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238702228 238724196 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr1 238707830 238708231 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 238719498 238842085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238719498 238842085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38720447 38721447 Gain Osteosarcoma References 21215367 ALG10B chr12 387223 415471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM5A chr12 38728252 38729142 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 23873683 23897226 Gain and loss Pancreatic cancer SNP array 17952125 ID3 chr1 238739000 238777336 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr1 238744077 238744177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 38748312 38748659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238767771 238812877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 38776672 40539769 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCD2,C12orf40,CPNE8,KIF21A,SLC2A13 chr1 238778000 238818428 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr1 238779790 238780301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238785698 238785798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 38788913 42596599 Amplification Cancer Affymetrix 250K Sty array 20164920 ABCD2,C12orf40,CNTN1,CPNE8,GXYLT1,KIF21A,LRRK2,PDZRN4,SLC2A13,YAF2 chr12 3880124 3881124 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 23881482 24596143 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CNR2,FUCA1,GALE,HMGCL,ID3,IL22RA1,IL28RA,LOC100506963,LOC284632,LYPLA2,MDS2,MIR378F,MYOM3,PITHD1,PNRC2,RPL11,SRSF10,TCEB3 chr12 38821302 38822302 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 238822833 238823347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 238834916 238835050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 38848664 38848764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 238859821 238859921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 38862035 39797164 LOH Normal High-resolution SNP genotyping 21211785 CPNE8,KIF21A chr1 238866522 238866975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38875423 39446036 LOH Normal High-resolution SNP genotyping 21211785 CPNE8 chr1 238876944 240357986 Copy number Lung cancer paired-end sequencing 18438408 CHRM3,FMN2,RPS7P5 chr1 238884164 238884547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 38897337 38897437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 38905080 39049342 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPNE8 chr12 38905080 39049342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPNE8 chr12 38905080 39049342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE8 chr12 38905201 39049351 Gain and loss Pancreatic cancer SNP array 17952125 CPNE8 chr1 23890880 23895502 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 23890881 23895502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23890881 23895502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 389222 498620 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 CCDC77,KDM5A chr1 238928243 238928352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23892907 23893006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 38931333 38932228 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 238946110 238991292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 2389581 2469131 Gain and loss Pancreatic cancer SNP array 17952125 HES5,PANK4,PLCH2 chr12 38966358 38966731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 238982657 238982756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 38982866 38982958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 238999344 239001457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23900000 28000000 Copy number Endometrial cancer GISTIC software 19261849 AHDC1,AIM1L,ARID1A,AUNIP,C1orf172,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,DHDDS,EXTL1,FAM110D,FAM46B,FAM54B,FCN3,FGR,FUCA1,GALE,GPATCH3,GPN2,GPR3,GRHL3,HMGCL,HMGN2,IFI6,IL22RA1,IL28RA,LDLRAP1,LIN28A,LOC100506963,LOC284632,LOC644961,LOC646471,LYPLA2,MAN1C1,MAP3K6,MDS2,MIR1976,MIR378F,MIR3917,MYOM3,NCMAP,NIPAL3,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,PITHD1,PNRC2,RCAN3,RCAN3AS,RHCE,RHD,RPL11,RPS6KA1,RUNX3,SEPN1,SFN,SH3BGRL3,SLC30A2,SLC9A1,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,TCEB3,TMEM222,TMEM50A,TMEM57,TRIM63,TRNP1,UBXN11,WASF2,WDTC1,ZDHHC18,ZNF593,ZNF683 chr1 23900000 32400000 Gain Prostate cancer Array CGH 16573809 AHDC1,AIM1L,ARID1A,ATPIF1,AUNIP,BAI2,C1orf172,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,COL16A1,DHDDS,DNAJC8,EPB41,EXTL1,EYA3,FABP3,FAM110D,FAM46B,FAM54B,FAM76A,FCN3,FGR,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HCRTR1,HMGCL,HMGN2,IFI6,IL22RA1,IL28RA,LAPTM5,LDLRAP1,LIN28A,LOC100506963,LOC149086,LOC284551,LOC284632,LOC644961,LOC646471,LYPLA2,MAN1C1,MAP3K6,MATN1,MATN1-AS1,MDS2,MECR,MED18,MIR1976,MIR378F,MIR3917,MIR4254,MIR4420,MYOM3,NCMAP,NIPAL3,NKAIN1,NR0B2,NUDC,OPRD1,PAFAH2,PAQR7,PDIK1L,PEF1,PHACTR4,PIGV,PITHD1,PNRC2,PPP1R8,PTAFR,PTP4A2,PTPRU,PUM1,RAB42,RCAN3,RCAN3AS,RCC1,RHCE,RHD,RNU11,RPA2,RPL11,RPS6KA1,RUNX3,SCARNA1,SDC3,SEPN1,SERINC2,SESN2,SFN,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPOCD1,SRRM1,SRSF10,SRSF4,STMN1,STPG1,STX12,SYF2,SYTL1,TAF12,TCEB3,THEMIS2,TINAGL1,TMEM200B,TMEM222,TMEM50A,TMEM57,TRIM63,TRNAU1AP,TRNP1,UBXN11,WASF2,WDTC1,XKR8,YTHDF2,ZCCHC17,ZDHHC18,ZNF593,ZNF683 chr1 239005438 239587153 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 239005438 239587153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 239005438 239587153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 239020297 239020397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39027147 39027247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39042037 39042096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 23904878 23906011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 239052893 239053590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 239069843 239226340 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr12 39073336 39073431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE8 chr12 39096421 39170640 Gain and loss Pancreatic cancer SNP array 17952125 CPNE8 chr1 239101465 239101565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 239103312 239231293 Duplication Depressive disorder Perlegen 600K platform 21152026 NOT_FOUND chr12 39103864 39107745 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CPNE8 chr12 3912101 3912196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39121142 39124388 Gain and loss Pancreatic cancer SNP array 17952125 CPNE8 chr1 239126085 239126185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 239126244 239126493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39144486 39171409 Gain and loss Pancreatic cancer SNP array 17952125 CPNE8 chr12 39146949 39179948 Copy number loss Normal High-resolution SNP genotyping 21211785 CPNE8 chr1 239149576 239150532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 39151237 39151355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPNE8 chr12 39154141 39171194 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CPNE8 chr1 239165326 239165408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39166516 39182456 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE8 chr1 23916880 23940067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 239174044 239219166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 3917541 3917625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39180347 39224653 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CPNE8 chr12 39181039 39214853 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPNE8 chr12 39181039 39214853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPNE8 chr12 39181039 39214853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE8 chr12 39181995 39191476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE8 chr12 39182949 39198095 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE8 chr12 39183645 39190203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE8 chr12 39184497 39205668 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE8 chr12 39188456 39188551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE8 chr1 239216480 239216804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 39222629 39250827 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPNE8 chr12 39222629 39250827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE8 chr1 239228374 239228717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 39234230 39234336 Gain and loss Pancreatic cancer SNP array 17952125 CPNE8 chr12 39234230 39234336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE8 chr12 39237740 39282525 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE8 chr12 3923904 3923983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARP11 chr12 39245638 80300000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AAAS,ABCD2,ACVR1B,ACVRL1,ADAMTS20,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf40,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CAPS2,CBX5,CCDC65,CCNT1,CCT2,CD63,CDK2,CDK4,CELA1,CERS5,CNOT2,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COX14,CPM,CPNE8,CPSF6,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DYRK2,E2F7,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,FRS2,GALNT6,GDF11,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,GXYLT1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,IRAK4,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KIF21A,KIF5A,KRR1,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100507250,LOC100507377,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LRRC10,LRRK2,LYZ,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1252,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR3913-1,MIR3913-2,MIR4698,MIR4701,MIR548C,MIR548Z,MIR5692B,MIR615,MIRLET7I,MLL2,MMP19,MON2,MRS2P2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OSBPL8,PA2G4,PAN2,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PFDN5,PFKM,PHLDA1,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPHLN1,PPM1H,PPP1R12A,PPP1R1A,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PTPRB,PTPRR,PUS7L,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC2A13,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,SYT1,TAC3,TARBP2,TBC1D15,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM19,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TPH2,TRHDE,TRHDE-AS1,TROAP,TSFM,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TWF1,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YAF2,YEATS4,ZBTB39,ZC3H10,ZCRB1,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF740 chr1 239249130 239249230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 239252928 239253050 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 239263797 239263882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39268879 39282280 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE8 chr12 39271645 39282280 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE8 chr1 2392727 239749677 Copy number Autism exome sequencing 22495311 AADACL3,AADACL4,ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACBD3,ACBD6,ACOT11,ACOT7,ACP6,ACTA1,ACTG1P4,ACTL8,ACTN2,ACTRT2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGT,AGTRAP,AHCYL1,AHDC1,AIDA,AIM1L,AIM2,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALDH9A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APITD1,APITD1-CORT,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF10L,ARHGEF11,ARHGEF16,ARHGEF19,ARHGEF2,ARID1A,ARID4B,ARL8A,ARNT,ARPC5,ARTN,ARV1,ASAP3,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V0B,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT2,B4GALT3,BAI2,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,BTG2,C1QA,C1QB,C1QC,C1orf105,C1orf106,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf122,C1orf123,C1orf126,C1orf127,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf200,C1orf204,C1orf21,C1orf210,C1orf212,C1orf213,C1orf216,C1orf220,C1orf226,C1orf227,C1orf228,C1orf27,C1orf31,C1orf35,C1orf43,C1orf50,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf63,C1orf64,C1orf65,C1orf68,C1orf74,C1orf85,C1orf87,C1orf88,C1orf94,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CA6,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMK2N1,CAMSAP2,CAMTA1,CAP1,CAPN2,CAPN8,CAPN9,CAPZA1,CAPZB,CASP9,CASQ1,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCSAP,CCT3,CD101,CD160,CD164L2,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD52,CD53,CD55,CD58,CD5L,CD84,CDA,CDC14A,CDC20,CDC42,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCA8,CDCP2,CDK18,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELF3,CELSR2,CENPF,CENPL,CEP104,CEP350,CEP85,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHD5,CHI3L1,CHI3L2,CHIA,CHIT1,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLK2,CLSPN,CLSTN1,CMPK1,CNIH3,CNIH4,CNKSR1,CNN3,CNR2,CNTN2,COG2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CORT,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CROCC,CROCCP2,CROCCP3,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CSRP1,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDI2,DDOST,DDR2,DDX20,DDX59,DEDD,DEGS1,DEM1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,E2F2,EBNA1BP2,ECE1,ECHDC2,ECM1,EDARADD,EDEM3,EDN2,EFCAB7,EFHD2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF2D,EIF3I,EIF4G3,ELAVL4,ELF3,ELK4,ELOVL1,ELTD1,EMBP1,EMC1,ENAH,ENO1,ENO1-AS1,ENSA,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERI3,ERMAP,ERO1LB,ERRFI1,ESPN,ESPNP,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXOC8,EXOSC10,EXTL1,EXTL2,EYA3,F11R,F13B,F3,F5,FAAH,FABP3,FAF1,FAIM3,FAM102B,FAM110D,FAM129A,FAM131C,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM177B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM213B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM76A,FAM78B,FAM89A,FAM91A2,FASLG,FBLIM1,FBXO2,FBXO28,FBXO42,FBXO44,FBXO6,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCN3,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FGR,FHAD1,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ37453,FLJ39739,FLJ42875,FLVCR1,FLVCR1-AS1,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,G0S2,GABPB2,GADD45A,GALE,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLUL,GM140,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG4,GNG5,GNL2,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR137B,GPR153,GPR157,GPR161,GPR25,GPR3,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,GUK1,H3F3A,H3F3AP4,H6PD,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES5,HEYL,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HIVEP3,HLX,HMCN1,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HORMAD1,HP1BP3,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYDIN2,HYI,IARS2,IBA57,ICMT,ID3,IER5,IFFO2,IFI16,IFI44,IFI44L,IFI6,IGFN1,IGSF21,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL22RA1,IL23R,IL24,IL28RA,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,INTS7,IPO13,IPO9,IPP,IQCC,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNQ4,KCNT2,KCTD3,KDM1A,KDM4A,KDM4A-AS1,KDM5B,KDM5B-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1522,KIAA1614,KIAA1804,KIAA2013,KIF14,KIF17,KIF1B,KIF21B,KIF2C,KIFAP3,KIRREL,KISS1,KLF17,KLHDC7A,KLHDC8A,KLHDC9,KLHL12,KLHL20,KLHL21,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPRE1,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN28A,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00339,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130093,LOC100130331,LOC100130557,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100133445,LOC100133612,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506730,LOC100506795,LOC100506801,LOC100506810,LOC100506963,LOC100507564,LOC100507634,LOC100527964,LOC115110,LOC148696,LOC148709,LOC149086,LOC149373,LOC284551,LOC284578,LOC284581,LOC284632,LOC284648,LOC284661,LOC284688,LOC339442,LOC339505,LOC339524,LOC339535,LOC388692,LOC400752,LOC400794,LOC401980,LOC402779,LOC440563,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC644961,LOC645166,LOC646268,LOC646471,LOC646626,LOC649330,LOC653160,LOC653513,LOC728431,LOC728463,LOC728716,LOC728875,LOC728989,LOC729041,LOC729059,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LSM10,LURAP1,LUZP1,LY9,LYPLA2,LYPLAL1,LYSMD1,LYST,LZIC,MAB21L3,MACF1,MAD2L2,MAEL,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MAPKAPK2,MARC1,MARC2,MARCKSL1,MARK1,MASP2,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MDM4,MDS2,MEAF6,MECR,MED18,MED8,MEF2D,MEGF6,METTL11B,METTL13,METTL18,MEX3A,MFAP2,MFN2,MFSD2A,MFSD4,MGC27382,MGST3,MIA3,MIER1,MIIP,MINOS1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR1976,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR30C1,MIR30E,MIR3115,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR320B1,MIR320B2,MIR34A,MIR3605,MIR3620,MIR3658,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4260,MIR4417,MIR4420,MIR4422,MIR4423,MIR4424,MIR4427,MIR4632,MIR4654,MIR4666A,MIR4671,MIR4684,MIR4689,MIR4695,MIR4711,MIR4735,MIR4742,MIR4753,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR551A,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MMEL1,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS15,MRPS21,MRTO4,MSH4,MST1P2,MST1P9,MSTO1,MSTO2P,MTF1,MTF2,MTHFR,MTMR11,MTMR9LP,MTOR,MTOR-AS1,MTR,MTX1,MUC1,MUL1,MUTYH,MYBPH,MYBPHL,MYCBP,MYCL1,MYOC,MYOG,MYOM3,MYSM1,NASP,NAV1,NBL1,NBPF1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF3,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCMAP,NCSTN,NDUFS2,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NFYC,NGF,NHLH1,NHLH2,NID1,NIPAL3,NIT1,NKAIN1,NME7,NMNAT1,NMNAT2,NOL9,NOS1AP,NOTCH2,NOTCH2NL,NPHP4,NPHS2,NPL,NPPA,NPPA-AS1,NPPB,NPR1,NR0B2,NR1I3,NR5A2,NRAS,NRD1,NSL1,NSUN4,NT5C1A,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDC,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPRD1,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD3,OTUD7B,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAPPA2,PAQR6,PAQR7,PARK7,PARP1,PARS2,PAX7,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDPN,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PER3,PEX11B,PEX14,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGD,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIGV,PIK3C2B,PIK3CD,PIK3R3,PIN1P1,PINK1,PIP5K1A,PITHD1,PKLR,PKN2,PKP1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G4A,PLA2G5,PLCH2,PLEKHA6,PLEKHG5,PLEKHM2,PLEKHO1,PLK3,PLOD1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PNRC2,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP1R8,PPP2R5A,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRCC,PRDM16,PRDM2,PRDX1,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTGS2,PTP4A2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRF,PTPRU,PTPRVP,PUM1,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB42,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RAD54L,RALGPS2,RAP1A,RAP1GAP,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP4,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RBP7,RC3H1,RCAN3,RCAN3AS,RCC1,RCC2,RCOR3,RCSD1,RD3,REG4,REN,RERE,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHCE,RHD,RHOC,RHOU,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF186,RNF187,RNF19B,RNF2,RNF207,RNF220,RNPC3,RNPEP,RNU11,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL31P11,RPL5,RPRD2,RPS10P7,RPS15AP10,RPS27,RPS6KA1,RPS6KC1,RPS8,RPTN,RRAGC,RRNAD1,RRP15,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDE2,SDHB,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SERPINC1,SERTAD4,SERTAD4-AS1,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A1,SLC30A10,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A1,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SMIM1,SMPDL3B,SMYD2,SNAP47,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA14B,SNORA16A,SNORA16B,SNORA36B,SNORA42,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORA77,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNORD99,SNRNP40,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA21,SPATA6,SPEN,SPHAR,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPSB1,SPTA1,SRG7,SRGAP2,SRGAP2B,SRM,SRP9,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT11,SYT14,SYT2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TADA1,TAF12,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARBP1,TARDBP,TARS2,TAS1R1,TAS1R2,TATDN3,TBCE,TBX15,TBX19,TCEA3,TCEANC2,TCEB3,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFB2,TGFBR3,THAP3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TIMM17A,TINAGL1,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM183A,TMEM183B,TMEM200B,TMEM201,TMEM206,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM63A,TMEM69,TMEM79,TMEM81,TMEM82,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFRSF14,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOE1,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TP73,TP73-AS1,TPM3,TPR,TPRG1L,TRABD2B,TRAF3IP3,TRAF5,TRAPPC3,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIM67,TRIT1,TRMT13,TRMT1L,TRNAU1AP,TRNP1,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC13,TTC22,TTC24,TTC34,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2T,UBE2U,UBE4B,UBIAD1,UBL4B,UBQLN4,UBR4,UBXN10,UBXN11,UCHL5,UCK2,UFC1,UHMK1,UOX,UQCRH,UQCRHL,URB2,UROD,USF1,USH2A,USP1,USP21,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS13D,VPS45,VPS72,VSIG8,VTCN1,VWA5B1,WARS2,WASF2,WDR26,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT3A,WNT4,WNT9A,WRAP73,XCL1,XCL2,XKR8,XPR1,YARS,YBX1,YIPF1,YOD1,YRDC,YTHDF2,YY1AP1,ZBED6,ZBTB17,ZBTB37,ZBTB40,ZBTB41,ZBTB48,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H11A,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF281,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF648,ZNF678,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr12 39314307 39315282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 3934417 3942423 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PARP11 chr1 23935686 23935967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23935706 23935967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 239360042 239360192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 239367984 239794123 Gain Normal 244K array 17666407 CHRM3 chr12 39372624 39750361 Gain or loss Breast cancer - 20668451 KIF21A chr12 39372624 39750361 Gain or loss Cancer - 20668451 KIF21A chr12 39372624 39750361 Gain or loss Lung cancer - 20668451 KIF21A chr12 39372624 39750361 Gain or loss Ovarian cancer - 20668451 KIF21A chr12 39372624 39750361 Gain or loss Pancreas cancer - 20668451 KIF21A chr12 39372624 39750361 Gain or loss Prostate cancer - 20668451 KIF21A chr1 239375923 239408531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 239406799 239406899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 23942549 23958974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MDS2 chr1 23942549 23958974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MDS2 chr1 239425501 239429300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 239426084 239426225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 239427161 239427475 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 39429617 39429873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 239429847 239429997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 394401 394501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM5A chr1 239449647 239449747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39452938 39453938 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 39453706 39453765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 39454856 39455856 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 23945766 23985123 Gain and loss Pancreatic cancer SNP array 17952125 MDS2 chr1 239466384 239471797 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 39469463 39469768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 39508281 39750361 Gain and loss Pancreatic cancer SNP array 17952125 KIF21A chr12 39531884 39531984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39535217 67695739 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AAAS,ABCD2,ACVR1B,ACVRL1,ADAMTS20,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf40,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,CNTN1,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,GXYLT1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,IRAK3,IRAK4,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF21A,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LRRK2,MAP3K12,MARCH9,MARS,MBD6,MCRS1,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR548C,MIR548Z,MIR615,MIRLET7I,MLL2,MMP19,MON2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDZRN4,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPHLN1,PPM1H,PPP1R1A,PRICKLE1,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PUS7L,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC2A13,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,TWF1,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YAF2,ZBTB39,ZC3H10,ZCRB1,ZNF385A,ZNF641,ZNF740 chr1 239535502 239535805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 3953572 3973316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PARP11 chr1 239543150 239546343 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 239555899 239555968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 239570499 239570601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 39588423 39750361 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF21A chr12 39588423 39750361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF21A chr12 39588423 39750361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF21A chr12 39609747 39866444 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 KIF21A chr1 239613772 239714665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 39646028 40139599 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCD2,C12orf40,KIF21A chr1 239652849 239653111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 239658746 239658846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 39661625 39661725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 396772 429908 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM5A chr1 239695671 239695721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 239727526 239749677 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 239727526 239749677 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 239727526 239749677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 239727526 239749677 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 239727526 239749677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 239727526 239749677 Gain or loss Cancer - 20668451 NOT_FOUND chr1 239727526 239749677 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 239727526 239749677 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 239727526 239749677 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 239727526 239749677 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 239736429 239736509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 239745517 239989429 Gain and loss Pancreatic cancer SNP array 17952125 CHRM3 chr1 239758314 239758675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 2397614 2426829 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLCH2 chr1 2397614 2426829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLCH2 chr1 2397614 2426829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCH2 chr1 239762057 239825566 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHRM3 chr1 239762057 239825566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr1 239762057 239825566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr12 39769259 39769344 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF21A chr1 23977470 23987309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23977470 23987309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 39786179 39831306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF21A chr1 23979000 33579000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADC,AHDC1,AIM1L,AK2,ARID1A,ATPIF1,AUNIP,BAI2,BSDC1,C1orf172,C1orf63,CATSPER4,CCDC28B,CD164L2,CD52,CEP85,CLIC4,CNKSR1,CNR2,COL16A1,DCDC2B,DHDDS,DNAJC8,EIF3I,EPB41,EXTL1,EYA3,FABP3,FAM110D,FAM167B,FAM46B,FAM54B,FAM76A,FCN3,FGR,FNDC5,FUCA1,GALE,GMEB1,GPATCH3,GPN2,GPR3,GRHL3,HCRTR1,HDAC1,HMGCL,HMGN2,HPCA,IFI6,IL22RA1,IL28RA,IQCC,KHDRBS1,KIAA1522,KPNA6,LAPTM5,LCK,LDLRAP1,LIN28A,LOC100128071,LOC100506963,LOC149086,LOC284551,LOC284632,LOC644961,LOC646471,LYPLA2,MAN1C1,MAP3K6,MARCKSL1,MATN1,MATN1-AS1,MECR,MED18,MIR1976,MIR378F,MIR3917,MIR4254,MIR4420,MTMR9LP,MYOM3,NCMAP,NIPAL3,NKAIN1,NR0B2,NUDC,OPRD1,PAFAH2,PAQR7,PDIK1L,PEF1,PHACTR4,PIGV,PITHD1,PNRC2,PPP1R8,PTAFR,PTP4A2,PTPRU,PUM1,RAB42,RBBP4,RCAN3,RCAN3AS,RCC1,RHCE,RHD,RNF19B,RNU11,RPA2,RPL11,RPS6KA1,RUNX3,S100PBP,SCARNA1,SDC3,SEPN1,SERINC2,SESN2,SFN,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPOCD1,SRRM1,SRSF10,SRSF4,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,TAF12,TCEB3,THEMIS2,TINAGL1,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM50A,TMEM54,TMEM57,TRIM63,TRNAU1AP,TRNP1,TSSK3,TXLNA,UBXN11,WASF2,WDTC1,XKR8,YARS,YTHDF2,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZNF593,ZNF683 chr12 39797164 39813477 Copy number loss Normal High-resolution SNP genotyping 21211785 KIF21A chr1 23981133 23981309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 239823075 239870324 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHRM3 chr1 239823075 239870324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr1 239823075 239870324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr12 39826082 39827082 Loss Osteosarcoma References 21215367 KIF21A chr1 239847282 239847382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHRM3 chr1 239858778 239865855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHRM3 chr1 239858778 239865855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr1 239858778 239865855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr12 39868525 40254649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCD2,C12orf40,SLC2A13 chr12 39868525 40254649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCD2,C12orf40,SLC2A13 chr12 39870405 39871405 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 239882203 240031580 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHRM3 chr1 239882203 240031580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr1 239882203 240031580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr1 239894894 239894994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHRM3 chr12 3990000 6230000 Loss Breast cancer aCGH 21509527 AKAP3,ANO2,C12orf4,C12orf5,CCND2,DYRK4,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,NTF3,RAD51AP1,VWF chr12 39900050 40407218 LOH Normal High-resolution SNP genotyping 21211785 ABCD2,C12orf40,SLC2A13 chr12 3990093 3990416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 23990233 23994614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23990233 23994614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23991001 24000500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 39920267 40640707 LOH Normal High-resolution SNP genotyping 21211785 ABCD2,C12orf40,LRRK2,SLC2A13 chr12 39946084 39946399 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABCD2 chr12 39946084 39946400 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ABCD2 chr1 23994676 23999881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 23994676 23999881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 239964422 239964522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHRM3 chr1 239975346 239975611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHRM3 chr12 39976799 39977799 Loss Osteosarcoma References 21215367 ABCD2 chr1 239977576 240332594 Gain and loss Pancreatic cancer SNP array 17952125 CHRM3,FMN2,RPS7P5 chr12 39990667 41371395 LOH Normal High-resolution SNP genotyping 21211785 ABCD2,C12orf40,CNTN1,LRRK2,SLC2A13 chr1 23999219 24032687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPL11 chr12 39996357 39996759 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ABCD2 chr1 24000000 26000000 Loss Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 C1orf63,CLIC4,CNR2,FUCA1,GALE,GRHL3,HMGCL,IL22RA1,IL28RA,LDLRAP1,LOC100506963,LOC284632,LYPLA2,MAN1C1,MIR378F,MYOM3,NCMAP,NIPAL3,PITHD1,PNRC2,RCAN3,RCAN3AS,RHCE,RHD,RPL11,RUNX3,SRRM1,SRSF10,STPG1,SYF2,TCEB3,TMEM50A,TMEM57 chr12 40004615 40005615 Loss Osteosarcoma References 21215367 ABCD2 chr1 24000501 24279000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNR2,FUCA1,GALE,HMGCL,LOC100506963,LYPLA2,MIR378F,PITHD1,RPL11,TCEB3 chr1 24000955 24025264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPL11 chr1 24000955 24025264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPL11 chr12 4004031 4004110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40043705 40043792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C12orf40 chr12 40057588 40057688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf40 chr1 240061860 240062712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRM3 chr12 40068495 40102162 Gain Normal Birdsuite, version 1.5.2 22087296 C12orf40 chr1 240073470 240118087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 240078157 240119671 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr1 240078157 240119671 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 240078157 240119671 Gain or loss Cancer - 20668451 NOT_FOUND chr1 240078157 240119671 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 240078157 240119671 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 240078157 240119671 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 240078157 240119671 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 240078158 240119670 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 240078158 240119670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 240078158 240119670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 240078158 240119671 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr1 240082762 240082820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40102269 43107259 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 C12orf40,CNTN1,GXYLT1,LRRK2,PDZRN4,PPHLN1,PRICKLE1,SLC2A13,YAF2,ZCRB1 chr12 40112304 44056846 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAMTS20,C12orf40,CNTN1,GXYLT1,LRRK2,PDZRN4,PPHLN1,PRICKLE1,SLC2A13,YAF2,ZCRB1 chr12 40117808 40254651 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A13 chr12 40117841 40254649 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC2A13 chr12 40133991 40149792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC2A13 chr1 240136449 240136549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 240146001 240146469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 40185712 40185957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC2A13 chr1 240187041 240188987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 240187041 240188987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24019328 24019383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPL11 chr12 40208112 40209112 Loss Osteosarcoma References 21215367 SLC2A13 chr12 40208575 40208675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC2A13 chr1 240223121 240223608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 240225415 240228998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 240225415 240228998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 240240000 241350000 Gain Burkitt's lymphoma 244 K aCGH platform 19759907 FMN2,GREM2,MIR3123,RGS7 chr12 4025135 4059370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 240253874 240253979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 240287010 240290167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN2 chr1 240309879 240341660 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FMN2 chr1 24031636 24035237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 240318312 240754621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMN2,GREM2 chr1 240318312 240754621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN2,GREM2 chr1 240327879 240343405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FMN2 chr12 40338745 40338834 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A13 chr12 40338745 40338834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A13 chr12 40343752 40344752 Loss Osteosarcoma References 21215367 SLC2A13 chr12 4034408 11787382 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,AKAP3,ANO2,APOBEC1,ATN1,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CSDA,DDX12P,DPPA3,DSTNP2,DYRK4,EMG1,ENO2,FAM66C,FAM86FP,FAM90A1,FGF23,FGF6,FOXJ2,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KCNA1,KCNA5,KCNA6,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC338817,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LTBR,M6PR,MAGOHB,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NOP2,NTF3,OLR1,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RBP5,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 40350865 40351865 Gain Osteosarcoma References 21215367 SLC2A13 chr1 240364197 240364306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN2 chr1 24036609 24052127 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 240372441 247168408 Copy number Lung cancer paired-end sequencing 18438408 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,FH,FMN2,GREM2,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR3123,MIR4677,OPN3,PLD5,RGS7,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670-ZNF695,ZNF695 chr12 40379252 40379321 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A13 chr12 40379252 40379321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A13 chr12 40379323 40379394 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A13 chr12 40379392 40379460 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A13 chr12 40379392 40379460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A13 chr12 40417611 40418611 Gain Osteosarcoma References 21215367 SLC2A13 chr1 240435563 240435663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMN2 chr1 24044161 24067408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24044161 24067408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 40442893 41158973 LOH Normal High-resolution SNP genotyping 21211785 CNTN1,LRRK2,SLC2A13 chr1 2404459 2406708 Copy number Autism exome sequencing 22495311 NOT_FOUND chr12 40449893 40449993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC2A13 chr1 240472713 240486440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FMN2 chr12 40508589 40508689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40522401 40527000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 40524321 40525144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 240532746 240532825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMN2 chr1 240540626 240546817 Gain and loss Pancreatic cancer SNP array 17952125 FMN2 chr1 240553673 240557252 Gain and loss Pancreatic cancer SNP array 17952125 FMN2 chr1 240575483 240575643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN2 chr1 240593275 240593553 Gain and loss Pancreatic cancer SNP array 17952125 FMN2 chr1 240595114 240595747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN2 chr1 240606853 240607357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN2 chr1 240608880 240608980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMN2 chr12 40634033 41342330 LOH Normal High-resolution SNP genotyping 21211785 CNTN1,LRRK2 chr1 240665209 240665420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GREM2 chr12 40673010 40673235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRK2 chr12 40706990 40721094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRK2 chr1 24073047 24112404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506963,PITHD1,TCEB3 chr12 40759830 40759951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRK2 chr12 40761917 40824940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRK2 chr12 40761917 40824940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRK2 chr12 40764810 40764860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40767214 40824781 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 40767313 40824948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 40776944 40777044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 4077839 4078863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 240786381 240786474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40796515 40796580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 24079677 24080315 Gain and loss Pancreatic cancer SNP array 17952125 TCEB3 chr12 40832792 40832949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40832941 40832982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40837173 40918317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 40837173 40918317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 40837173 40918317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 40839104 40918305 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 2408416 2412411 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PLCH2 chr1 240841978 240878424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 4085464 4186701 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr12 40856784 40856884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40892760 40892853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40894466 40894566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 240897838 240941454 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr12 40910317 40914342 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 40922306 40922512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 40922306 40922512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 40922792 40922898 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 40922792 40922898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 240926889 240926969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 40937033 40937108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 40950063 40950163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 240950731 241129699 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr12 40966980 40968629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 40966980 40968629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 40984100 40986360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 40992155 41006199 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 40992155 41006199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 40992155 41006199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 40992156 41006174 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 241002546 241003030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS7 chr1 24100548 24101814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506963 chr12 41006214 41126687 Gain and loss Pancreatic cancer SNP array 17952125 CNTN1 chr12 41006214 41128689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNTN1 chr12 41006214 41128689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN1 chr12 41006214 41128689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN1 chr1 241025267 241025367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS7 chr12 41025682 41025722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 241066354 241066454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS7 chr12 41078618 41078717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 41078619 41078717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 41078619 41078720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 241095420 241095513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS7 chr1 241114167 241347508 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3123,RGS7 chr1 241115351 241294758 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 RGS7 chr1 241115351 241324674 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3123,RGS7 chr1 241116354 241116454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS7 chr1 241116497 241294758 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 RGS7 chr1 241119776 241150557 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGS7 chr12 41121456 41121979 Gain Ewing's sarcoma Array CGH 19144156 CNTN1 chr1 241122153 241324674 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3123,RGS7 chr12 41134789 41134888 Gain and loss Pancreatic cancer SNP array 17952125 CNTN1 chr12 41134789 41134890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN1 chr12 41139341 41269745 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNTN1 chr12 41139341 41269745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN1 chr12 41139341 41269745 Gain and loss Pancreatic cancer SNP array 17952125 CNTN1 chr12 41139341 41269745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN1 chr12 41140000 50740000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ADAMTS20,ADCY6,AMIGO2,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,BCDIN3D,BCDIN3D-AS1,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CERS5,CNTN1,COL2A1,COX14,DBX2,DDN,DDX23,DHH,DNAJC22,ENDOU,FAIM2,FAM186A,FAM186B,FKBP11,FMNL3,GPD1,GXYLT1,H1FNT,HDAC7,IRAK4,KANSL2,KCNH3,LALBA,LIMA1,LMBR1L,LOC100335030,LOC255411,LOC283332,LOC400027,MCRS1,MIR1291,MIR1293,MIR4698,MIR4701,MLL2,NCKAP5L,NELL2,OR10AD1,OR8S1,PCED1B,PCED1B-AS1,PDZRN4,PFKM,PLEKHA8P1,PPHLN1,PRICKLE1,PRKAG1,PRPF40B,PRPH,PUS7L,RACGAP1,RACGAP1P,RAPGEF3,RHEBL1,RND1,RNY5,RPAP3,SCAF11,SENP1,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TMBIM6,TMEM106C,TMEM117,TROAP,TUBA1A,TUBA1B,TUBA1C,TWF1,VDR,WNT1,WNT10B,YAF2,ZCRB1,ZNF641 chr12 41140875 41140975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN1 chr1 241142415 241198370 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr1 241181130 241213096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGS7 chr1 241190574 241190674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS7 chr12 41191314 41191387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN1 chr1 241194395 241195834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGS7 chr1 241204930 241205009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS7 chr12 41211670 42602752 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN1,GXYLT1,PDZRN4,YAF2 chr12 41238696 45426140 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADAMTS20,CNTN1,DBX2,GXYLT1,IRAK4,NELL2,PDZRN4,PPHLN1,PRICKLE1,PUS7L,TMEM117,TWF1,YAF2,ZCRB1 chr1 241257709 241257774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS7 chr1 24127831 24183971 Gain and loss Pancreatic cancer SNP array 17952125 FUCA1,HMGCL chr1 241279501 241288500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RGS7 chr1 241283859 241285412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS7 chr1 241287717 241319611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR3123,RGS7 chr12 41304501 41315100 Deletion Glioma mate-paired sequence 20126413 CNTN1 chr12 41305837 41313748 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 CNTN1 chr12 41305837 41313748 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CNTN1 chr12 41306354 41314860 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CNTN1 chr12 41306354 41314860 Total allelic loss Normal High-resolution SNP genotyping 21211785 CNTN1 chr12 41306841 41313692 Loss Normal 244K array 17666407 CNTN1 chr1 241311081 241311184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS7 chr12 41316885 41317210 Gain and loss Pancreatic cancer SNP array 17952125 CNTN1 chr12 41316885 41317210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN1 chr12 41331570 41332167 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN1 chr12 41331576 41332141 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CNTN1 chr1 241332379 241332581 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr1 241334731 241457448 Gain Normal Birdsuite, version 1.5.2 22087296 RGS7 chr1 241342732 241353644 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr12 41344112 41898954 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN1,PDZRN4 chr1 241354353 241485331 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RGS7 chr1 241354353 241485331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS7 chr1 241354353 241485331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS7 chr12 41355256 41918443 LOH Normal High-resolution SNP genotyping 21211785 CNTN1,PDZRN4 chr1 241356657 241356657 Copy number Prostate cancer Illumina GA II sequencer 21307934 RGS7 chr1 241364021 247249719 Amplification Cancer Affymetrix 250K Sty array 20164920 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,FH,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,RGS7,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr12 41364123 41364223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN1 chr12 4137436 4137536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 241433245 241433558 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr1 241433245 241433559 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr1 241440102 247249719 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,FH,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,RGS7,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241444214 241444306 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr1 241451891 241483628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGS7 chr1 241454681 241462534 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RGS7 chr12 41456314 41456414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN1 chr1 241459329 241459880 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr12 41471398 41471640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 241480000 241720000 Duplication Schizophrenia BAC array CGH 17989066 FH,KMO,RGS7 chr1 24148092 24148460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGCL chr1 241485943 241730011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FH,KMO,RGS7 chr1 241485943 241730011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FH,KMO,RGS7 chr1 241485943 241730011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FH,KMO,RGS7 chr1 241490101 241494000 Deletion Glioma mate-paired sequence 20126413 RGS7 chr1 241491979 241492274 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGS7 chr1 241495830 241495899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS7 chr1 241497182 241498044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS7 chr1 241498341 242804011 Amplification Normal Arbitrated Peel-off 21527027 CHML,EXO1,FH,KMO,MAP1LC3C,OPN3,PLD5,RGS7,WDR64 chr1 241498341 242804011 Amplification Normal Standard peel-off 21527027 CHML,EXO1,FH,KMO,MAP1LC3C,OPN3,PLD5,RGS7,WDR64 chr1 241512358 241512459 Gain and loss Pancreatic cancer SNP array 17952125 RGS7 chr1 241533271 241533375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 241551582 241551671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 24158905 24162515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24158905 24162515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 41592168 41592267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN4 chr1 241594883 241595033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 241604054 241604147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 241614045 241616498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 241623270 241623433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 241623271 241623433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 24163881 24179408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FUCA1 chr1 24163881 24179408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUCA1 chr1 241700000 247249719 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Deletion abnormal development HR-CGH, Array-CGH 18461090 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Deletion GLUT3 deficiency syndrome array-CGH analysis 20509907 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Deletion laryngomalacia FISH 21936942 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Deletion Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Gain Cervical cancer Array CGH 21063398 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Gain Developmental delay Human whole genome oligonucleotide microarray kits 245K 21373258 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700000 247249719 Translocation Developmental delay FISH 19490664 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CHML,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,KMO,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,OPN3,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670,ZNF670-ZNF695,ZNF695 chr1 241700591 241734798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KMO chr1 241718157 242073207 Amplification Glioblastoma Agilent 244K, Affymetrix SNP6.0 and Illumina 550K 18772890 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718157 242073207 Gain or loss Breast cancer - 20668451 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718157 242073207 Gain or loss Cancer - 20668451 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718157 242073207 Gain or loss Lung cancer - 20668451 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718157 242073207 Gain or loss Ovarian cancer - 20668451 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718157 242073207 Gain or loss Pancreas cancer - 20668451 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718157 242073207 Gain or loss Prostate cancer - 20668451 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718158 242080053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718158 242080053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHML,EXO1,KMO,OPN3,WDR64 chr1 241718158 242080053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHML,EXO1,KMO,OPN3,WDR64 chr12 41725077 42286314 LOH Normal High-resolution SNP genotyping 21211785 PDZRN4 chr12 41735194 43487727 LOH Normal High-resolution SNP genotyping 21211785 GXYLT1,PDZRN4,PPHLN1,PRICKLE1,YAF2,ZCRB1 chr1 241777961 241778061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPN3 chr1 241819220 242093193 Copy number loss Normal High-resolution SNP genotyping 21211785 EXO1,WDR64 chr1 241832169 241832586 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 WDR64 chr1 241835594 241835653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR64 chr1 241843021 241861058 Gain and loss Pancreatic cancer SNP array 17952125 WDR64 chr1 241846411 241846511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR64 chr1 241848715 242809557 Amplification Normal GISTIC2.0 21527027 EXO1,MAP1LC3C,PLD5,WDR64 chr1 241849167 241881240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR64 chr1 241849369 241850364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDR64 chr1 241854591 241854981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR64 chr12 41867108 41867208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN4 chr1 241886848 241886946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR64 chr12 41893924 41894012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN4 chr12 41914972 43863904 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS20,GXYLT1,PDZRN4,PPHLN1,PRICKLE1,YAF2,ZCRB1 chr1 24191567 24214917 Gain and loss Pancreatic cancer SNP array 17952125 CNR2,FUCA1 chr1 241940000 247190000 Loss Acute lymphoblastic leukemia - 21339820 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,CEP170,CNST,COX20,DESI2,EFCAB2,EXO1,HNRNPU,HNRNPU-AS1,KIF26B,LOC149134,LOC255654,LOC339529,LOC731275,MAP1LC3C,MIR4677,PLD5,SCCPDH,SDCCAG8,SMYD3,TFB2M,WDR64,ZNF238,ZNF670-ZNF695,ZNF695 chr12 41940684 41941019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDZRN4 chr1 241946086 241946175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR64 chr1 241952471 241964722 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WDR64 chr1 241965473 241978235 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 41971565 41971650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 241995749 242021124 Loss Normal 244K array 17666407 EXO1 chr1 242000345 242175936 Gain and loss Pancreatic cancer SNP array 17952125 EXO1,MAP1LC3C chr12 4200754 4317864 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr12 42034279 42231991 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 42034279 42231991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 42034279 42231991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 42034279 42231991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24206958 24207596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNR2 chr1 24206958 24207596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNR2 chr1 242073251 242091783 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 24208554 24622293 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNR2,IL22RA1,IL28RA,LOC284632,MIR378F,MYOM3,PNRC2,SRSF10 chr1 24208554 24622293 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNR2,IL22RA1,IL28RA,LOC284632,MIR378F,MYOM3,PNRC2,SRSF10 chr1 2420948 2421048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCH2 chr12 42102956 42103492 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 42119021 42119116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 242153025 242158684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 242176948 242192469 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 42179322 42179381 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr1 242238687 242996560 Gain and loss Pancreatic cancer SNP array 17952125 PLD5 chr12 42249893 42252108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24225953 24259057 Gain and loss Pancreatic cancer SNP array 17952125 CNR2,MIR378F chr12 42261601 42267700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 42263717 42265816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 242281183 242287403 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PLD5 chr1 242281184 242287397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLD5 chr1 242281184 242287397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD5 chr1 242281208 242287401 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLD5 chr1 242294255 242297834 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLD5 chr12 42327160 43188685 LOH Normal High-resolution SNP genotyping 21211785 GXYLT1,PPHLN1,PRICKLE1,YAF2,ZCRB1 chr1 242333857 242334135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD5 chr12 42364204 42364304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 42364751 42366250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 42366251 44961500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTS20,GXYLT1,IRAK4,NELL2,PPHLN1,PRICKLE1,PUS7L,TMEM117,TWF1,YAF2,ZCRB1 chr1 24237419 24271527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNR2,MIR378F chr12 42388304 42388387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 42408683 42438863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 42408683 42438863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 42408685 42438856 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 42408688 42438856 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 24241533 24241633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 42439019 42468166 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 42439019 42468166 Gain or loss Cancer - 20668451 NOT_FOUND chr12 42439019 42468166 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 42439019 42468166 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 42439019 42468166 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 42439019 42468166 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 42439047 42468166 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 42439047 42468166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 42439047 42468166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 42439067 42468164 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 242455437 242470619 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLD5 chr1 242463731 242466466 Gain and loss Pancreatic cancer SNP array 17952125 PLD5 chr12 42473795 42486445 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GXYLT1 chr12 42473795 42486445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GXYLT1 chr12 42473795 42486445 Gain and loss Pancreatic cancer SNP array 17952125 GXYLT1 chr12 42473795 42486445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GXYLT1 chr12 42482757 42482857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GXYLT1 chr12 42516168 43069807 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GXYLT1,PPHLN1,PRICKLE1,YAF2,ZCRB1 chr12 42516168 43069807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GXYLT1,PPHLN1,PRICKLE1,YAF2,ZCRB1 chr12 42516168 43069807 Gain and loss Pancreatic cancer SNP array 17952125 GXYLT1,PPHLN1,PRICKLE1,YAF2,ZCRB1 chr12 42516168 43069807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GXYLT1,PPHLN1,PRICKLE1,YAF2,ZCRB1 chr12 4253198 4284777 Amplification Normal GISTIC2.0 21527027 NOT_FOUND chr12 4253198 4284777 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr12 4253198 4284777 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 4253198 4284777 Gain or loss Cancer - 20668451 NOT_FOUND chr12 4253198 4284777 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 4253198 4284777 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 4253198 4284777 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 4253198 4284777 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 4253198 4284777 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 4253199 4284777 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 4253199 4284777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4253199 4284777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 4253199 4284777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24255112 24311252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR378F,PNRC2,SRSF10 chr1 24255112 24311252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR378F,PNRC2,SRSF10 chr1 24255670 24255770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 242582560 242619016 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLD5 chr1 242582560 242619016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLD5 chr1 242582560 242619016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD5 chr12 4259023 4259587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 242601363 242602114 Loss Normal 244K array 17666407 PLD5 chr1 242624900 242625587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD5 chr1 242638420 242682036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLD5 chr1 242638420 242682036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLD5 chr1 242638420 242682036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD5 chr12 42640000 43260000 Loss Acute lymphoblastic leukemia - 21339820 PPHLN1,PRICKLE1,ZCRB1 chr12 42641512 43708125 LOH Normal High-resolution SNP genotyping 21211785 PPHLN1,PRICKLE1,ZCRB1 chr12 42644522 43444917 LOH Normal High-resolution SNP genotyping 21211785 PPHLN1,PRICKLE1,ZCRB1 chr1 242652818 242652918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLD5 chr1 242658104 242658157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLD5 chr12 4266037 4283277 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr12 4266037 4283277 Amplification Normal Standard peel-off 21527027 NOT_FOUND chr1 242678357 242678461 Gain and loss Pancreatic cancer SNP array 17952125 PLD5 chr1 242678357 242678465 Gain and loss Pancreatic cancer SNP array 17952125 PLD5 chr1 242691313 242870281 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 242691313 242870281 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 242691313 242870281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 242704433 242704483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 42730957 42743871 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PPHLN1 chr1 242733187 243066985 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 42738391 42871809 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 PPHLN1,PRICKLE1 chr1 24275573 24275889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 42766511 42773837 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPHLN1 chr12 42775023 43978726 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS20,PPHLN1,PRICKLE1 chr12 42781253 42781346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPHLN1 chr1 24279001 24323500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PNRC2,SRSF10 chr1 242812836 242812887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 242828316 242828612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 242860655 242860755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 242866456 242866556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 242882975 242938958 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 242883026 242938958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 242883026 242938958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 242915351 242915462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 242924355 242924645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 42931727 42931827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRICKLE1 chr1 242946009 242946109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 242954316 242954394 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 42957507 42983177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRICKLE1 chr1 2429834 2447886 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 PANK4,PLCH2 chr1 2429835 2447895 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PANK4,PLCH2 chr1 2429835 2447895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PANK4,PLCH2 chr1 2429835 2447895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PANK4,PLCH2 chr12 42994686 42994786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 4300620 4339449 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 4300620 4339449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4300620 4339449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4300632 4332599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 243026019 243026114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 243029913 243055604 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 4303799 4304238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 4303799 4304238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243039401 243073963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 243055847 243157923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 243059939 243066503 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 243059939 243066503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243065262 243074980 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 243065587 243073219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243070563 243076828 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 243072961 243073163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243074714 243076776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243080224 243094450 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 243080225 243094450 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 243080225 243094450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243080225 243094450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 43086850 43086950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 43120039 43120139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 243144206 243144320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 4316907 4317907 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 243173831 243174141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 43188332 43556405 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 43188332 43556405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 43188332 43556405 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 43188332 43556405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24318848 24342198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24318848 24342198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243199794 243352916 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEP170,LOC731275 chr1 243199794 243352916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP170,LOC731275 chr1 243199794 243352916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP170,LOC731275 chr1 243199911 243200462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243213766 243257480 Gain and loss Pancreatic cancer SNP array 17952125 LOC731275 chr12 4322717 4322817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 43236324 43310884 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr12 4324765 4324839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 43256215 43256285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 43263082 43263182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 243273853 243273957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243278437 243281732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 243289046 243299376 Gain and loss Pancreatic cancer SNP array 17952125 CEP170 chr1 243289833 243310393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP170 chr1 243294681 243323280 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP170 chr1 243296539 243310784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP170 chr12 43297442 43297763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 243303819 243311530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP170 chr1 243306055 243325697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP170 chr12 43308751 43308851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 243328720 243420706 Gain and loss Pancreatic cancer SNP array 17952125 CEP170,SDCCAG8 chr12 4334734 5563164 Copy number Lung cancer paired-end sequencing 18438408 AKAP3,C12orf4,C12orf5,CCND2,DYRK4,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,NTF3,RAD51AP1 chr1 243353388 243354375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP170 chr1 243354405 243399139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP170 chr1 243363852 243364015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP170 chr1 243385350 243933051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKT3,CEP170,MIR4677,SDCCAG8 chr1 243385350 243933051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKT3,CEP170,MIR4677,SDCCAG8 chr1 243400471 244654876 Loss or gain Normal 244K array 17666407 ADSS,AKT3,C1orf100,C1orf101,CEP170,LOC339529,MIR4677,SDCCAG8,ZNF238 chr12 43402131 43409297 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 243415695 243416165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CEP170 chr12 43416358 43417401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 43440926 44188692 LOH Normal High-resolution SNP genotyping 21211785 ADAMTS20,IRAK4,PUS7L,TWF1 chr1 243457034 243489417 Gain and loss Pancreatic cancer SNP array 17952125 SDCCAG8 chr12 4347653 4359155 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 4347653 4359155 Gain or loss Cancer - 20668451 NOT_FOUND chr12 4347653 4359155 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 4347653 4359155 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 4347653 4359155 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 4347653 4359155 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 4347654 4359155 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 4347654 4359155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4347654 4359155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 4347654 4359155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243480047 243675590 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 AKT3,MIR4677,SDCCAG8 chr12 43489269 44188692 LOH Normal High-resolution SNP genotyping 21211785 ADAMTS20,IRAK4,PUS7L,TWF1 chr12 43495656 44130583 LOH Normal High-resolution SNP genotyping 21211785 ADAMTS20,PUS7L chr1 243505830 243509160 Loss Normal Birdsuite, version 1.5.2 22087296 SDCCAG8 chr1 243509160 243513344 Loss Normal Birdsuite, version 1.5.2 22087296 MIR4677,SDCCAG8 chr1 243512783 243513014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDCCAG8 chr1 243526128 243528881 Gain and loss Pancreatic cancer SNP array 17952125 SDCCAG8 chr1 243532134 243533367 Gain and loss Pancreatic cancer SNP array 17952125 SDCCAG8 chr1 24353234 24387036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYOM3 chr1 24353234 24387036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYOM3 chr12 43536258 43537796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 243553982 243554055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SDCCAG8 chr12 43560918 43561019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 43560920 43561019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 43560922 43561019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 4357009 4358009 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 43571 29466307 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETNK1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGF23,FGF6,FGFR1OP2,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr1 243583603 243601640 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDCCAG8 chr1 243589491 243589591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SDCCAG8 chr1 243589717 243593542 Gain and loss Pancreatic cancer SNP array 17952125 SDCCAG8 chr1 243600259 243600344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDCCAG8 chr1 243600854 243601567 Gain and loss Pancreatic cancer SNP array 17952125 SDCCAG8 chr1 243601536 243621162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SDCCAG8 chr1 243645909 243661220 Gain and loss Pancreatic cancer SNP array 17952125 AKT3,SDCCAG8 chr1 2436501 2447000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PANK4,PLCH2 chr1 243672667 243810207 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 AKT3 chr1 243693922 243694004 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr12 43694806 43731149 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 43694806 43731149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 43694806 43731149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 43696336 43730977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 243700000 249250621 Copy number Cutaneous malignant melanoma Western blot 18794153 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,C1orf229,CNST,COX20,DESI2,EFCAB2,GCSAML,GCSAML-AS1,HNRNPU,HNRNPU-AS1,KIF26B,LOC149134,LOC255654,LOC339529,LYPD8,MIR3124,MIR3916,NLRP3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PGBD2,SCCPDH,SH3BP5L,SMYD3,TFB2M,TRIM58,VN1R5,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF692,ZNF695 chr1 243700000 249250621 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,C1orf229,CNST,COX20,DESI2,EFCAB2,GCSAML,GCSAML-AS1,HNRNPU,HNRNPU-AS1,KIF26B,LOC149134,LOC255654,LOC339529,LYPD8,MIR3124,MIR3916,NLRP3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PGBD2,SCCPDH,SH3BP5L,SMYD3,TFB2M,TRIM58,VN1R5,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF692,ZNF695 chr1 243700000 249250621 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,C1orf229,CNST,COX20,DESI2,EFCAB2,GCSAML,GCSAML-AS1,HNRNPU,HNRNPU-AS1,KIF26B,LOC149134,LOC255654,LOC339529,LYPD8,MIR3124,MIR3916,NLRP3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PGBD2,SCCPDH,SH3BP5L,SMYD3,TFB2M,TRIM58,VN1R5,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF692,ZNF695 chr1 243700000 249250621 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,C1orf229,CNST,COX20,DESI2,EFCAB2,GCSAML,GCSAML-AS1,HNRNPU,HNRNPU-AS1,KIF26B,LOC149134,LOC255654,LOC339529,LYPD8,MIR3124,MIR3916,NLRP3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PGBD2,SCCPDH,SH3BP5L,SMYD3,TFB2M,TRIM58,VN1R5,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF692,ZNF695 chr1 243700000 249250621 Gain or loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,C1orf229,CNST,COX20,DESI2,EFCAB2,GCSAML,GCSAML-AS1,HNRNPU,HNRNPU-AS1,KIF26B,LOC149134,LOC255654,LOC339529,LYPD8,MIR3124,MIR3916,NLRP3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PGBD2,SCCPDH,SH3BP5L,SMYD3,TFB2M,TRIM58,VN1R5,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF692,ZNF695 chr1 243700000 249250621 Loss Fibroblasts Bacterial Artificial Chromosome Array CGH 17951408 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,C1orf229,CNST,COX20,DESI2,EFCAB2,GCSAML,GCSAML-AS1,HNRNPU,HNRNPU-AS1,KIF26B,LOC149134,LOC255654,LOC339529,LYPD8,MIR3124,MIR3916,NLRP3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PGBD2,SCCPDH,SH3BP5L,SMYD3,TFB2M,TRIM58,VN1R5,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF692,ZNF695 chr1 243700000 249250621 Loss Lung cancer Bacterial Artificial Chromosome Array CGH 17951408 ADSS,AHCTF1,AKT3,C1orf100,C1orf101,C1orf229,CNST,COX20,DESI2,EFCAB2,GCSAML,GCSAML-AS1,HNRNPU,HNRNPU-AS1,KIF26B,LOC149134,LOC255654,LOC339529,LYPD8,MIR3124,MIR3916,NLRP3,OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L5,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR2W5,OR6F1,PGBD2,SCCPDH,SH3BP5L,SMYD3,TFB2M,TRIM58,VN1R5,ZNF124,ZNF238,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF672,ZNF692,ZNF695 chr1 243707102 243796934 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AKT3 chr12 43717773 43717941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 43717930 43718151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 43718644 43718725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 243719297 243719397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKT3 chr1 243719400 243720787 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr1 243726568 243727194 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr1 243739951 243766973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AKT3 chr1 243741031 243933051 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKT3 chr12 43743000 50676000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 ADAMTS20,ADCY6,AMIGO2,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,BCDIN3D,BCDIN3D-AS1,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CERS5,COL2A1,COX14,DBX2,DDN,DDX23,DHH,DNAJC22,ENDOU,FAIM2,FAM186B,FKBP11,FMNL3,GPD1,H1FNT,HDAC7,IRAK4,KANSL2,KCNH3,LALBA,LIMA1,LMBR1L,LOC100335030,LOC255411,LOC283332,LOC400027,MCRS1,MIR1291,MIR1293,MIR4698,MIR4701,MLL2,NCKAP5L,NELL2,OR10AD1,OR8S1,PCED1B,PCED1B-AS1,PFKM,PLEKHA8P1,PRKAG1,PRPF40B,PRPH,PUS7L,RACGAP1,RACGAP1P,RAPGEF3,RHEBL1,RND1,RNY5,RPAP3,SCAF11,SENP1,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TMBIM6,TMEM106C,TMEM117,TROAP,TUBA1A,TUBA1B,TUBA1C,TWF1,VDR,WNT1,WNT10B,ZNF641 chr12 43743523 43744223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 43743705 43744085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 243745415 243746488 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr12 43758180 43758280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTS20 chr12 43759531 43759631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTS20 chr1 243760643 243760743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKT3 chr1 243784178 243784282 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr1 243784178 243784283 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr1 243787557 243821086 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr12 43797821 43797938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS20 chr12 43797822 43797938 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS20 chr12 43797822 43797939 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS20 chr12 4382901 4414522 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 CCND2 chr1 243842452 243842552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKT3 chr1 243844783 243844918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKT3 chr12 4384510 4429503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCND2 chr12 43853114 43896056 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADAMTS20 chr12 43853114 43896056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS20 chr12 43853114 43896056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS20 chr12 43853240 43854415 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS20 chr12 43865788 43899500 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADAMTS20 chr1 243870301 243893280 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AKT3 chr12 43879949 43967314 Loss Autism Exome sequencing and CGH 22495309 ADAMTS20 chr1 243892309 243892399 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 AKT3 chr12 43896170 44112391 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADAMTS20 chr12 43896170 44112391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS20 chr12 43896170 44112391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS20 chr1 243907392 243938445 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr1 24391187 24436274 Gain and loss Pancreatic cancer SNP array 17952125 MYOM3 chr1 243912325 243912568 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKT3 chr1 243912325 243912629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKT3 chr1 243915001 243919500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKT3 chr1 243925672 243925805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKT3 chr1 243925679 243925813 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 AKT3 chr1 24392935 24396249 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYOM3 chr1 243940393 243941328 Gain and loss Pancreatic cancer SNP array 17952125 AKT3 chr12 43960394 44005126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 43971581 43971681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 43972732 44112397 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 43972733 44112393 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 243978369 244351285 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 AKT3,LOC339529,ZNF238 chr1 243979266 244737237 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ADSS,AKT3,C1orf100,C1orf101,LOC339529,ZNF238 chr1 243979267 244737182 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADSS,AKT3,C1orf100,C1orf101,LOC339529,ZNF238 chr1 243979267 244737237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADSS,AKT3,C1orf100,C1orf101,LOC339529,ZNF238 chr1 243979267 244737237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADSS,AKT3,C1orf100,C1orf101,LOC339529,ZNF238 chr12 439803 541319 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CCDC77,KDM5A chr12 439804 540878 Gain and loss Pancreatic cancer SNP array 17952125 CCDC77,KDM5A chr12 439804 541319 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC77,KDM5A chr12 439804 541319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC77,KDM5A chr12 439804 541319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC77,KDM5A chr12 43994210 43996497 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr1 244010619 244171000 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC339529 chr1 244020892 244021851 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 44033077 44033986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 244038490 244065887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244040626 244603187 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADSS,C1orf100,LOC339529,ZNF238 chr12 44056846 44340626 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 IRAK4,PUS7L,TMEM117,TWF1 chr1 244077703 244078656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244079502 244079534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 244080889 244109015 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 LOC339529 chr12 4408710 5978830 Microdeletion Epilepsy array CGH (Nimblegen 135 K v3.1) Illumina 610quad microarrays 21858020 AKAP3,ANO2,C12orf4,C12orf5,CCND2,DYRK4,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,NTF3,RAD51AP1 chr1 244094929 244095858 Gain and loss Pancreatic cancer SNP array 17952125 LOC339529 chr1 244095685 244103915 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC339529 chr1 244096467 244096542 Gain and loss Pancreatic cancer SNP array 17952125 LOC339529 chr1 244102296 244102380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC339529 chr1 244108425 244109905 Gain and loss Pancreatic cancer SNP array 17952125 LOC339529 chr12 44124846 44125401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PUS7L chr12 4413568 4425041 Gain or loss Breast cancer - 20668451 CCND2 chr12 4413568 4425041 Gain or loss Cancer - 20668451 CCND2 chr12 4413568 4425041 Gain or loss Lung cancer - 20668451 CCND2 chr12 4413568 4425041 Gain or loss Ovarian cancer - 20668451 CCND2 chr12 4413568 4425041 Gain or loss Pancreas cancer - 20668451 CCND2 chr12 4413568 4425041 Gain or loss Prostate cancer - 20668451 CCND2 chr12 4413568 4425041 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CCND2 chr12 4413569 4425041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCND2 chr12 4413569 4425041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCND2 chr12 4413569 4425041 Gain and loss Pancreatic cancer SNP array 17952125 CCND2 chr12 4413569 4425041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCND2 chr12 44139396 44139569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PUS7L chr12 44139557 44139706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PUS7L chr12 44143268 45289633 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 IRAK4,NELL2,PUS7L,TMEM117,TWF1 chr1 244146527 244183712 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339529 chr1 244161461 244162384 Gain and loss Pancreatic cancer SNP array 17952125 LOC339529 chr1 244163286 244193001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339529 chr1 24417 25944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WASH7P chr1 244173624 244186073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339529 chr1 244176096 244203386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339529 chr12 44182562 44200351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IRAK4,TWF1 chr12 44183172 44220676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IRAK4,TWF1 chr12 44184766 44232722 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM117,TWF1 chr12 44186137 44230881 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM117,TWF1 chr12 44187249 44196059 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TWF1 chr12 44187301 44198200 Deletion Glioma mate-paired sequence 20126413 TWF1 chr12 44188692 44196992 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 TWF1 chr12 44188692 44196992 Total allelic loss Normal High-resolution SNP genotyping 21211785 TWF1 chr12 44189409 44196263 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TWF1 chr12 44189421 44196206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TWF1 chr12 44192107 44195804 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TWF1 chr12 44192107 44195804 Loss Normal Birdsuite, version 1.5.2 22087296 TWF1 chr1 244192589 244192778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC339529 chr1 244201172 244202098 Gain and loss Pancreatic cancer SNP array 17952125 LOC339529 chr1 244212478 244213386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244220301 244224400 Deletion Glioma mate-paired sequence 20126413 ZNF238 chr1 244221663 244221997 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 244222441 244222816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 244222497 244222919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 244227958 244228896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244233906 244234002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 44234627 44234711 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM117 chr12 44234632 44234709 Gain and loss Pancreatic cancer SNP array 17952125 TMEM117 chr12 4423477 4425254 Gain Normal 244K array 17666407 NOT_FOUND chr1 24423601 24423681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYOM3 chr1 244246805 244247749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 24425904 24426004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYOM3 chr1 244264313 244264951 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244266369 244266424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 24426994 24427107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYOM3 chr12 44273148 44273248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr1 244273235 244554473 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1orf100 chr1 244273235 244554473 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1orf100 chr1 244273235 244603187 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADSS,C1orf100 chr1 24428817 24486893 Gain and loss Pancreatic cancer SNP array 17952125 IL22RA1,IL28RA,MYOM3 chr1 244304143 244305072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 44308375 44817621 LOH Normal High-resolution SNP genotyping 21211785 TMEM117 chr12 44312612 44312712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr12 44313676 44313776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr1 244316888 244317817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244330271 244331239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244335561 244339790 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 44337405 44337505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr12 44340626 57508018 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,DAZAP2,DBX2,DCD,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLS2,GLYCAM1,GPD1,GPR182,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,MAP3K12,MCRS1,METTL7A,METTL7B,MFSD5,MIP,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NELL2,NEUROD4,NFE2,NPFF,NR4A1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PLEKHA8P1,PMEL,POU6F1,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,RAB5B,RACGAP1,RACGAP1P,RAPGEF3,RARG,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SLC11A2,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr1 244346542 244366917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 24435957 24436057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYOM3 chr1 244369037 244395492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 244372547 244404992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 44373697 44383494 Gain Normal 244K array 17666407 TMEM117 chr1 244384930 244385874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 44405769 44407971 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TMEM117 chr1 244408703 244409130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 44409759 44586603 Gain and loss Pancreatic cancer SNP array 17952125 TMEM117 chr12 44409886 44588086 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 TMEM117 chr12 44409887 44588086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM117 chr12 44409887 44588086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM117 chr12 44410138 44410260 Loss Autism 1M Ailent CGH whole-genome array 21865298 TMEM117 chr1 244410361 244411290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244418939 244419043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 244423112 244424098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244425353 244426651 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 44435605 44636158 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TMEM117 chr1 244438201 244439139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 44446859 44461422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM117 chr1 244454720 244455682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 44460965 44461422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM117 chr12 44461429 44462404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM117 chr1 244463035 244464484 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 244463220 244464522 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 244486343 244486437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244486343 244486438 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 44487389 44487591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr12 44487581 44487758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr12 44487589 44487689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr1 244503701 244507900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 244511291 244512229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244518463 244518562 Gain and loss Pancreatic cancer SNP array 17952125 C1orf100 chr1 244518463 244518563 Gain and loss Pancreatic cancer SNP array 17952125 C1orf100 chr12 44524861 60652543 Gain Prostate cancer Array CGH 18632612 AAAS,ACVR1B,ACVRL1,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DTX3,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPD1,GPR182,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,MAP3K12,MARCH9,MARS,MBD6,MCRS1,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAPGEF3,RARG,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr1 244535131 244535230 Gain and loss Pancreatic cancer SNP array 17952125 C1orf100 chr1 244535131 244535231 Gain and loss Pancreatic cancer SNP array 17952125 C1orf100 chr1 244550025 244550963 Gain and loss Pancreatic cancer SNP array 17952125 C1orf100 chr12 44554085 44554378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM117 chr12 44554090 44554380 Gain and loss Pancreatic cancer SNP array 17952125 TMEM117 chr12 44554090 44554380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM117 chr1 244565799 244565868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 244573006 244573939 Gain and loss Pancreatic cancer SNP array 17952125 ADSS chr1 244588719 244589657 Gain and loss Pancreatic cancer SNP array 17952125 ADSS chr12 44599180 44670668 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TMEM117 chr12 44599181 44670668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM117 chr12 44599181 44670668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM117 chr12 44600000 46800000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ANO6,ARID2,DBX2,LOC400027,NELL2,PLEKHA8P1,RACGAP1P,RNY5,SCAF11,SLC38A1,SLC38A2,TMEM117 chr12 44600000 47400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANO6,ARID2,DBX2,LOC400027,NELL2,PLEKHA8P1,RACGAP1P,RNY5,SCAF11,SLC38A1,SLC38A2,SLC38A4,TMEM117 chr12 44600000 47400000 Deletion Normal - 21541734 ANO6,ARID2,DBX2,LOC400027,NELL2,PLEKHA8P1,RACGAP1P,RNY5,SCAF11,SLC38A1,SLC38A2,SLC38A4,TMEM117 chr12 44600000 47400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANO6,ARID2,DBX2,LOC400027,NELL2,PLEKHA8P1,RACGAP1P,RNY5,SCAF11,SLC38A1,SLC38A2,SLC38A4,TMEM117 chr12 44600000 56300000 Gain Follicular lymphoma aCGH 20505157 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5G2,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CELA1,CERS5,COL2A1,COPZ1,COX14,CSAD,CSRNP2,DAZAP2,DBX2,DCD,DDN,DDX23,DHH,DIP2B,DNAJC14,DNAJC22,EIF4B,ENDOU,ESPL1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLYCAM1,GPD1,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,MAP3K12,MCRS1,METTL7A,METTL7B,MFSD5,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,NCKAP1L,NCKAP5L,NELL2,NEUROD4,NFE2,NPFF,NR4A1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PLEKHA8P1,POU6F1,PPP1R1A,PRKAG1,PRPF40B,PRPH,PRR13,RACGAP1,RACGAP1P,RAPGEF3,RARG,RDH5,RHEBL1,RND1,RNY5,RPAP3,SARNP,SCAF11,SCN8A,SENP1,SLC11A2,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SMAGP,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SOAT2,SP1,SP7,SPATS2,SPRYD3,TARBP2,TENC1,TESPA1,TFCP2,TMBIM6,TMEM106C,TMEM117,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,ZNF385A,ZNF641,ZNF740 chr12 44600000 56300000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5G2,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CELA1,CERS5,COL2A1,COPZ1,COX14,CSAD,CSRNP2,DAZAP2,DBX2,DCD,DDN,DDX23,DHH,DIP2B,DNAJC14,DNAJC22,EIF4B,ENDOU,ESPL1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLYCAM1,GPD1,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,MAP3K12,MCRS1,METTL7A,METTL7B,MFSD5,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,NCKAP1L,NCKAP5L,NELL2,NEUROD4,NFE2,NPFF,NR4A1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PLEKHA8P1,POU6F1,PPP1R1A,PRKAG1,PRPF40B,PRPH,PRR13,RACGAP1,RACGAP1P,RAPGEF3,RARG,RDH5,RHEBL1,RND1,RNY5,RPAP3,SARNP,SCAF11,SCN8A,SENP1,SLC11A2,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SMAGP,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SOAT2,SP1,SP7,SPATS2,SPRYD3,TARBP2,TENC1,TESPA1,TFCP2,TMBIM6,TMEM106C,TMEM117,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,ZNF385A,ZNF641,ZNF740 chr12 44600000 56300000 Loss Hepatocellular carcinoma Array CGH 16750200 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5G2,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CELA1,CERS5,COL2A1,COPZ1,COX14,CSAD,CSRNP2,DAZAP2,DBX2,DCD,DDN,DDX23,DHH,DIP2B,DNAJC14,DNAJC22,EIF4B,ENDOU,ESPL1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLYCAM1,GPD1,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,MAP3K12,MCRS1,METTL7A,METTL7B,MFSD5,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,NCKAP1L,NCKAP5L,NELL2,NEUROD4,NFE2,NPFF,NR4A1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PLEKHA8P1,POU6F1,PPP1R1A,PRKAG1,PRPF40B,PRPH,PRR13,RACGAP1,RACGAP1P,RAPGEF3,RARG,RDH5,RHEBL1,RND1,RNY5,RPAP3,SARNP,SCAF11,SCN8A,SENP1,SLC11A2,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SMAGP,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SOAT2,SP1,SP7,SPATS2,SPRYD3,TARBP2,TENC1,TESPA1,TFCP2,TMBIM6,TMEM106C,TMEM117,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,ZNF385A,ZNF641,ZNF740 chr12 44600000 61400000 Gain Metanephric adenoma Oligo aCGH 20802469 AAAS,ACVR1B,ACVRL1,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DTX3,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPD1,GPR182,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,MAP3K12,MARCH9,MARS,MBD6,MCRS1,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAPGEF3,RARG,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr12 44600000 69800000 Amplification Glioblastoma multiforme CGH 17387387 AAAS,ACVR1B,ACVRL1,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CPM,CPSF6,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DYRK2,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100507250,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LYZ,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR548C,MIR548Z,MIR615,MIRLET7I,MLL2,MMP19,MON2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPM1H,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr12 44600000 69800000 Gain Astrocytoma CGH 17387387 AAAS,ACVR1B,ACVRL1,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CPM,CPSF6,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DYRK2,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100507250,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LYZ,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR548C,MIR548Z,MIR615,MIRLET7I,MLL2,MMP19,MON2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPM1H,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr12 44600000 69800000 Gain Glioblastoma multiforme CGH 17387387 AAAS,ACVR1B,ACVRL1,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CPM,CPSF6,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DYRK2,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100507250,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LYZ,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR548C,MIR548Z,MIR615,MIRLET7I,MLL2,MMP19,MON2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPM1H,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr12 44600000 69800000 Gain liposarcomas FISH 17372913 AAAS,ACVR1B,ACVRL1,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CPM,CPSF6,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DYRK2,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100507250,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRIG3,LRP1,LYZ,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR548C,MIR548Z,MIR615,MIRLET7I,MLL2,MMP19,MON2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPM1H,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr12 44600000 91200000 Copy number Cancer ICA method 16751803 AAAS,ACSS3,ACVR1B,ACVRL1,ADCY6,AGAP2,ALX1,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP2B1,ATP5B,ATP5G2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf29,C12orf44,C12orf50,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CAPS2,CBX5,CCDC59,CCDC65,CCNT1,CCT2,CD63,CDK2,CDK4,CELA1,CEP290,CERS5,CNOT2,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CPM,CPSF6,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DUSP6,DYRK2,E2F7,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,FRS2,GALNT4,GALNT6,GDF11,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KIF5A,KITLG,KRR1,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LIMA1,LIN7A,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100507250,LOC100507377,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC338758,LOC400027,LOC400043,LOC728084,LRIG3,LRP1,LRRC10,LRRIQ1,LYZ,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1228,MIR1252,MIR1279,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR3913-1,MIR3913-2,MIR4698,MIR4699,MIR4701,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR615,MIR617,MIR618,MIRLET7I,MKRN9P,MLL2,MMP19,MON2,MRS2P2,MSRB3,MUCL1,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NDUFA4L2,NELL2,NEUROD4,NFE2,NPFF,NR4A1,NTS,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OSBPL8,OTOGL,PA2G4,PAN2,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PHLDA1,PIP4K2C,PLEKHA8P1,PMEL,POC1B,POC1B-GALNT4,POU6F1,PPFIA2,PPM1H,PPP1R12A,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PTPRB,PTPRQ,PTPRR,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAP1B,RAPGEF3,RARG,RASSF3,RASSF9,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SLC6A15,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,SYT1,TAC3,TARBP2,TBC1D15,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM117,TMEM19,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TROAP,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF740 chr12 44601459 44670615 Gain and loss Pancreatic cancer SNP array 17952125 TMEM117 chr12 44608000 54208000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5G2,BCDIN3D,BCDIN3D-AS1,BIN2,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CCDC65,CCNT1,CELA1,CERS5,COL2A1,COX14,CSAD,CSRNP2,DAZAP2,DBX2,DDN,DDX23,DHH,DIP2B,DNAJC22,EIF4B,ENDOU,ESPL1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FMNL3,GALNT6,GPD1,GRASP,H1FNT,HDAC7,HIGD1C,IGFBP6,ITGB7,KANSL2,KCNH3,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,MAP3K12,MCRS1,METTL7A,MFSD5,MIR1291,MIR1293,MIR4698,MIR4701,MLL2,NCKAP5L,NELL2,NPFF,NR4A1,OR10AD1,OR8S1,PCBP2,PCED1B,PCED1B-AS1,PFDN5,PFKM,PLEKHA8P1,POU6F1,PRKAG1,PRPF40B,PRPH,PRR13,RACGAP1,RACGAP1P,RAPGEF3,RARG,RHEBL1,RND1,RNY5,RPAP3,SCAF11,SCN8A,SENP1,SLC11A2,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SMAGP,SMARCD1,SNORA2A,SNORA2B,SNORA34,SOAT2,SP1,SP7,SPATS2,SPRYD3,TARBP2,TENC1,TFCP2,TMBIM6,TMEM106C,TMEM117,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WNT1,WNT10B,ZNF641,ZNF740 chr1 244611479 244612141 Gain and loss Pancreatic cancer SNP array 17952125 ADSS chr1 244653656 244654556 Gain and loss Pancreatic cancer SNP array 17952125 C1orf101 chr1 244655931 244656044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf101 chr12 4466320 4499793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C12orf5,FGF23 chr1 244669530 244670177 Gain and loss Pancreatic cancer SNP array 17952125 C1orf101 chr12 4467172 4517898 Gain and loss Pancreatic cancer SNP array 17952125 C12orf5,FGF23 chr12 4467195 4517898 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C12orf5,FGF23 chr12 4467195 4517935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf5,FGF23 chr12 4467195 4517935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf5,FGF23 chr1 244676251 245207862 LOH Normal High-resolution SNP genotyping 21211785 C1orf101,COX20,DESI2,EFCAB2,HNRNPU,HNRNPU-AS1 chr12 44678429 44678529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr1 244684537 246137743 Loss Autism - 20841430 C1orf101,COX20,DESI2,EFCAB2,HNRNPU,HNRNPU-AS1,KIF26B,SMYD3 chr1 244692411 244693349 Gain and loss Pancreatic cancer SNP array 17952125 C1orf101 chr1 244692815 244875866 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 C1orf101,DESI2 chr1 244694898 244694976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf101 chr1 2447001 2488000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HES5,LOC100133445,LOC115110,PANK4,TNFRSF14 chr1 244723621 244723809 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C1orf101 chr1 244728272 244729207 Gain and loss Pancreatic cancer SNP array 17952125 C1orf101 chr1 244736501 244754500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf101 chr1 244738963 244752517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf101 chr12 44739113 44739213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr1 244749795 244752090 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C1orf101 chr1 244756955 244758080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf101 chr1 244758487 244758766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf101 chr12 44759262 44761903 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TMEM117 chr1 244762195 244763157 Gain and loss Pancreatic cancer SNP array 17952125 C1orf101 chr1 244770488 244796186 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 C1orf101 chr1 244770489 244796186 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 C1orf101 chr1 244770495 244796186 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf101 chr1 244770495 244796186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf101 chr1 244770495 244796186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf101 chr12 44775177 44775266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM117 chr1 244783959 244784921 Gain and loss Pancreatic cancer SNP array 17952125 C1orf101 chr12 44795304 45487101 LOH Normal High-resolution SNP genotyping 21211785 DBX2,NELL2,RACGAP1P chr1 244796386 244898484 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf101,DESI2 chr1 244796386 244898484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf101,DESI2 chr1 244796386 244898484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf101,DESI2 chr12 44796924 44797019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 244812973 244813911 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 4481498 4481562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF23 chr12 44820715 44820815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 244826150 245001136 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 COX20,DESI2 chr1 244826150 245191415 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 COX20,DESI2,EFCAB2,HNRNPU,HNRNPU-AS1 chr1 244826150 245191415 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 COX20,DESI2,EFCAB2,HNRNPU,HNRNPU-AS1 chr1 244830411 244938966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DESI2 chr12 44834198 44834298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 244838118 244839056 Gain and loss Pancreatic cancer SNP array 17952125 DESI2 chr1 244838663 244838763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DESI2 chr1 244851008 244851970 Gain and loss Pancreatic cancer SNP array 17952125 DESI2 chr12 4485584 5783146 Loss Prostate cancer Array CGH 18632612 AKAP3,ANO2,C12orf4,DYRK4,FGF23,FGF6,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9,NTF3,RAD51AP1 chr1 244862181 244862403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DESI2 chr12 44863110 44949475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NELL2 chr12 44863110 44949475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NELL2 chr12 44867851 44949062 Gain and loss Pancreatic cancer SNP array 17952125 NELL2 chr1 24487609 24544704 Gain and loss Pancreatic cancer SNP array 17952125 IL28RA,LOC284632 chr1 244877050 244877877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244882035 244892371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 244892121 244897483 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 244894426 244906352 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 244895490 244896422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244896234 244899275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 44900087 44925483 Amplification Normal Arbitrated Peel-off 21527027 NELL2 chr12 44900087 44925483 Amplification Normal Standard peel-off 21527027 NELL2 chr12 4490384 44739500 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ABCD2,ACRBP,ACSM4,ADAMTS20,AEBP2,AICDA,AKAP3,ALG10,ALG10B,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf40,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CAPRIN2,CAPZA3,CASC1,CCDC91,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,CNTN1,COPS7A,CPNE8,CREBL2,CSDA,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EMG1,EMP1,ENO2,EPS8,ERGIC2,ERP27,ETNK1,ETV6,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FGD4,FGF6,FGFR1OP2,FLJ13224,FOXJ2,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GXYLT1,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IRAK4,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KIAA0528,KIAA1467,KIAA1551,KIF21A,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100287314,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC101055625,LOC338817,LOC374443,LOC389634,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRRK2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NOP2,NTF3,OLR1,OVCH1,PDE3A,PDE6H,PDZRN4,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PPHLN1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PUS7L,PYROXD1,PZP,RAD51AP1,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A13,SLC2A14,SLC2A3,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TM7SF3,TMEM117,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TWF1,USP5,VAMP1,VWF,WBP11,YAF2,YARS2,ZCRB1,ZNF384,ZNF705A chr12 44917428 44918340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NELL2 chr1 244936298 244972804 Loss or gain Normal 244K array 17666407 NOT_FOUND chr1 244942140 244943114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244954001 244998060 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 244954001 244998060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 244954001 244998060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 44961501 44962500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NELL2 chr12 44962501 45810500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO6,DBX2,NELL2,PLEKHA8P1,RACGAP1P,RNY5 chr1 244962693 244963649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 244966712 245010152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COX20,HNRNPU-AS1 chr1 244969688 245014112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COX20,HNRNPU,HNRNPU-AS1 chr1 244985436 244985757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 45000000 56400000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANO6,ANP32D,AQP2,AQP5,AQP6,ARF3,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5G2,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CELA1,CERS5,COL2A1,COPZ1,COX14,CSAD,CSRNP2,DAZAP2,DBX2,DCD,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,EIF4B,ENDOU,ESPL1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLYCAM1,GPD1,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,MAP3K12,MCRS1,METTL7A,METTL7B,MFSD5,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,NCKAP1L,NCKAP5L,NELL2,NEUROD4,NFE2,NPFF,NR4A1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PLEKHA8P1,PMEL,POU6F1,PPP1R1A,PRKAG1,PRPF40B,PRPH,PRR13,RAB5B,RACGAP1,RACGAP1P,RAPGEF3,RARG,RDH5,RHEBL1,RND1,RNY5,RPAP3,SARNP,SCAF11,SCN8A,SENP1,SLC11A2,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SMAGP,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SOAT2,SP1,SP7,SPATS2,SPRYD3,SUOX,TARBP2,TENC1,TESPA1,TFCP2,TMBIM6,TMEM106C,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,ZNF385A,ZNF641,ZNF740 chr1 2450044 2451544 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PANK4 chr1 2450046 2451544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PANK4 chr1 2450046 2451544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PANK4 chr1 245010989 245011933 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 245012501 245029500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HNRNPU chr1 245013551 245191415 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EFCAB2,HNRNPU chr1 245020440 245021411 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HNRNPU chr1 245036523 245036614 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr12 45038238 45052912 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NELL2 chr12 45038239 45052824 Gain and loss Pancreatic cancer SNP array 17952125 NELL2 chr12 45038239 45060677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NELL2 chr12 45038239 45060677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NELL2 chr1 245039516 245039574 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 245041475 245125291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 245042635 245042725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 245047886 245048833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 245048001 245048105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 245053969 245122723 Loss or gain Normal 244K array 17666407 NOT_FOUND chr1 245061147 245074099 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr1 245063143 245064099 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 45064216 45064376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL2 chr12 45064360 45064566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL2 chr1 245064845 245098397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 245069023 245162122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB2 chr1 245069023 245162122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB2 chr1 245069023 245162122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB2 chr1 24508007 24508107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL28RA chr1 245082172 245083110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 245084268 245084375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 245084269 245084375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 245094502 245094811 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 245113524 245125767 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr1 245113524 245125767 Loss Normal Quantitative PCR 18989455 NOT_FOUND chr1 245115520 245116470 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 45130928 45131141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL2 chr12 45131148 45131348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL2 chr1 24513251 24563559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL28RA,LOC284632 chr1 24513251 24563559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL28RA,LOC284632 chr1 245148964 246159212 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EFCAB2,KIF26B,SMYD3 chr12 45152970 45153065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL2 chr1 245163800 245208167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EFCAB2 chr1 245168866 245171826 Loss Normal 244K array 17666407 EFCAB2 chr1 245175472 245237981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB2 chr1 245175472 245237981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB2 chr1 245175472 245237981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB2 chr12 4518317 4539475 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 4518317 4539475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4518317 4539475 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 4518317 4539475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 245193394 245200083 Loss Normal 244K array 17666407 EFCAB2 chr12 45201988 45202239 Gain and loss Pancreatic cancer SNP array 17952125 NELL2 chr1 245244993 245247216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB2 chr1 245248306 245248406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB2 chr1 245252843 245253723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EFCAB2 chr12 45264864 45264962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL2 chr1 245266710 245308692 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB2 chr1 245266710 245308692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB2 chr1 245266710 245308692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB2 chr1 245272716 245273949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB2 chr12 45272844 45272944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NELL2 chr12 45304739 45335762 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NELL2 chr12 45311675 45331392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 45312128 45326117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 245315001 245320500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIF26B chr1 245315314 245315992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 245320501 245343500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIF26B chr12 45321588 45321688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 245327346 245360574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF26B chr1 245328029 245334251 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245328029 245334251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245328029 245334251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245329915 245334293 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 KIF26B chr1 245331984 245332084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF26B chr12 45337343 45834343 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANO6,DBX2,PLEKHA8P1,RACGAP1P,RNY5 chr1 245341436 245342149 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245341436 245342149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245343501 245350500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIF26B chr1 245343784 245350201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr12 45343901 45374399 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 245358787 245359839 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF26B chr12 45361618 45361965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 245385814 245401941 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245385814 245401941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245385814 245401941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr12 45388605 45388705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 245392382 245416197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF26B chr1 24540302 24560448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 245405181 245405450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245413738 245415359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr12 45419341 45419552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DBX2 chr12 45419415 45419515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DBX2 chr12 45419541 45419798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DBX2 chr1 245419776 245439418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr12 4543308 4554780 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 FGF6 chr1 245434504 245434586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr12 45444813 45506006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DBX2,RACGAP1P chr12 45444813 45506006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DBX2,RACGAP1P chr12 45444813 45506035 Gain and loss Pancreatic cancer SNP array 17952125 DBX2,RACGAP1P chr1 245459865 245461803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr12 45466239 58591220 Gain Bladder cancer array-CGH 21909424 AAAS,ACVR1B,ACVRL1,ADCY6,AGAP2,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANO6,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARID2,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DTX3,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPD1,GPR182,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400027,LOC400043,LRP1,MAP3K12,MARCH9,MARS,MBD6,MCRS1,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PLEKHA8P1,PMEL,POU6F1,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RAPGEF3,RARG,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RNY5,RPAP3,RPL41,RPS26,SARNP,SCAF11,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC26A10,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM194A,TMEM198B,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr1 245466793 245467882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245466793 245467882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245485897 245487135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245485897 245487135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245513933 245514017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF26B chr1 245524760 245524866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245530246 245561668 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245530246 245561668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245530246 245561668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr12 45536405 45566786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 45538058 45538148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 455498 548935 Gain Stenocardia MACArray Karyo 63K BAC-chips 21860640 CCDC77,KDM5A chr12 455498 548935 Gain Vasospasm MACArray Karyo 63K BAC-chips 21860640 CCDC77,KDM5A chr1 24556076 24614174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24556076 24614174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 245636154 245636383 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF26B chr1 245646097 245679029 Copy number Fever qPCR-HRM 21124859 KIF26B chr1 245646097 245679029 Copy number Lung cancer - 20668451 KIF26B chr1 245646097 245679029 Gain or loss Breast cancer - 20668451 KIF26B chr1 245646097 245679029 Gain or loss Cancer - 20668451 KIF26B chr1 245646097 245679029 Gain or loss Lung cancer - 20668451 KIF26B chr1 245646097 245679029 Gain or loss Ovarian cancer - 20668451 KIF26B chr1 245646097 245679029 Gain or loss Pancreas cancer - 20668451 KIF26B chr1 245646097 245679029 Gain or loss Prostate cancer - 20668451 KIF26B chr1 245646098 245679027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245646098 245679027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245646098 245679033 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245646540 245646540 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KIF26B chr12 45669359 45669459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO6 chr12 456768 1673782 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 B4GALNT3,CCDC77,ERC1,KDM5A,LOC100292680,NINJ2,RAD52,WNK1 chr1 245680954 245681907 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245680954 245681907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245680954 245681907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr12 4569747 4593291 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 4569747 4593291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4569747 4593291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4569747 4593301 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 245716512 245716586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF26B chr12 45719391 45719491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO6 chr1 245720308 245720408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF26B chr1 245720381 245721825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF26B chr1 245721053 245722015 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245721053 245722015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245721053 245722015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245723031 246053308 Copy number loss Normal High-resolution SNP genotyping 21211785 KIF26B,SMYD3 chr1 245737040 245807613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245737040 245807613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245737040 245807613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245744833 246050119 Copy number loss Normal High-resolution SNP genotyping 21211785 KIF26B,SMYD3 chr1 24574693 24608810 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 45746983 45759649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANO6 chr12 4574746 4574846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 45755757 45759915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO6 chr12 45755757 45759915 Gain and loss Pancreatic cancer SNP array 17952125 ANO6 chr12 45755757 45759915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO6 chr12 45759653 45916706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANO6 chr12 45759653 45916706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO6 chr12 45759653 45916706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO6 chr1 245760057 245763764 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245760057 245763764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245760057 245763764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245778889 245798810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF26B chr12 45810501 46402500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO6,ARID2,LOC400027,SCAF11 chr1 245812329 245814893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF26B chr1 245818285 245819238 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245818285 245819238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245818285 245819238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245818887 246636895 LOH Normal High-resolution SNP genotyping 21211785 KIF26B,SMYD3 chr1 24582810 24582910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 245833267 245833367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF26B chr1 245835511 245836440 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245835511 245836440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245835511 245836440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245837049 245837124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245849007 245850487 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIF26B chr1 245849007 245850487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF26B chr1 245857119 246408211 LOH Normal High-resolution SNP genotyping 21211785 KIF26B,SMYD3 chr1 245857412 245857502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF26B chr12 45859055 45859155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 45864036 46590700 LOH Normal High-resolution SNP genotyping 21211785 ARID2,LOC400027,SCAF11,SLC38A1 chr1 245864878 246409305 LOH Normal High-resolution SNP genotyping 21211785 KIF26B,SMYD3 chr1 245874471 245874571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 245881034 246360840 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245881034 246360840 Copy number gain Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245888700 246360840 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245888700 246360840 Copy number gain Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245888700 246364664 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245888700 246364664 Copy number gain Normal High-resolution SNP genotyping 21211785 SMYD3 chr12 45896319 45916708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 245896812 245897766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 45897251 45897331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 245897619 246360840 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245897619 246360840 Copy number gain Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245897619 246364664 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245897619 246364664 Copy number gain Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 245902043 245902966 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 245902043 245902966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 245902043 245902966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24590939 24891662 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 GRHL3,NCMAP,NIPAL3,RCAN3,RCAN3AS,STPG1 chr1 245917086 245923138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMYD3 chr1 245941754 245942680 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 245941754 245942680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 245941754 245942680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 4594936 4624619 Microdeletion infertile References 22138898 C12orf4 chr12 4594938 4624604 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C12orf4 chr12 4594938 4624604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf4 chr12 4594938 4624604 Gain and loss Pancreatic cancer SNP array 17952125 C12orf4 chr12 4594938 4624604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf4 chr1 245953024 245953968 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 245953024 245953968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 24596143 24901021 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 GRHL3,NCMAP,NIPAL3,RCAN3,RCAN3AS,STPG1 chr1 245968540 245969824 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 245968540 245969824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 245968540 245969824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 459843 459843 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KDM5A chr1 245987387 245988331 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 245987387 245988331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 245987387 245988331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 245989318 245989479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr12 45996901 45997001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246004835 246005761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46021658 46022139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46021664 46022139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 246023058 246023153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr1 246025674 246025727 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMYD3 chr12 46026216 46026347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46026216 46026347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46026219 46026347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 246028103 246028217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr12 46043470 46043550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246044725 246045741 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246044725 246045741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246044725 246045741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46046001 46830300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARID2,LOC400027,SCAF11,SLC38A1,SLC38A2 chr1 246051460 246051864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMYD3 chr1 246057411 246058422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46060000 46300000 Loss Acute lymphoblastic leukemia - 21339820 ARID2,LOC400027 chr1 246063274 246064213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46066450 46066550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246070853 246071821 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246070853 246071821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246070853 246071821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246077259 246077409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr1 246087124 246110063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246087124 246110063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246087124 246110063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246095365 246101323 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SMYD3 chr1 246097900 246127072 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr12 46114212 46114312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246116501 246126100 Deletion Glioma mate-paired sequence 20126413 SMYD3 chr1 246118102 246124261 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMYD3 chr1 246125512 246151881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246125512 246151881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246126212 246663526 LOH Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 246129289 246727163 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC255654,SMYD3,TFB2M chr1 246137720 246702344 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC255654,SMYD3 chr12 46145359 46145459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID2 chr1 24614871 24672053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRHL3 chr1 24614871 24672053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRHL3 chr1 246150943 246151881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr12 4615673 4649899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C12orf4,RAD51AP1 chr1 246159169 246174672 Gain Normal Birdsuite, version 1.5.2 22087296 SMYD3 chr1 246163694 246164680 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246163694 246164680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246165941 246167438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246167116 246330847 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246167116 246330847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246167116 246330847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246169170 246169584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46174946 46175112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID2 chr1 246178783 246179721 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246178783 246179721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246179377 246179377 Copy number Prostate cancer Illumina GA II sequencer 21307934 SMYD3 chr12 46182494 46182594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID2 chr1 246191289 246192385 Gain Normal aCGH 21627829 SMYD3 chr1 246195257 246196264 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246195257 246196264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246195257 246196264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246204666 246205578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246206756 247249719 LOH Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr1 246214811 246268967 Indels Normal Affymetrix and Illumina arrays 20811451 SMYD3 chr1 246220192 246221125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246220192 246221125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246221157 246222161 Loss Normal aCGH 21627829 SMYD3 chr12 46226555 46226655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID2 chr1 246226925 246227021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246233054 246233987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246251873 246252811 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246251873 246252811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246259045 246259146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246268097 246269230 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246268097 246269230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246268097 246269230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246268967 246276668 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SMYD3 chr1 246274432 246274759 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMYD3 chr1 246275713 246275814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 4628535 4666658 Gain and loss Pancreatic cancer SNP array 17952125 C12orf4,RAD51AP1 chr12 4628544 4666658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf4,RAD51AP1 chr12 4628544 4666658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf4,RAD51AP1 chr12 4628553 4666934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C12orf4,RAD51AP1 chr12 46286624 46286724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID2 chr1 246290607 246291545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246290607 246291545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246290607 246291545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46302823 46421863 Duplication Normal Affymetrix 6.0 microarrays 20967226 SCAF11 chr12 46310 157881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM138D,LOC100288778 chr12 46310 157881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM138D,LOC100288778 chr12 46310 157881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM138D,LOC100288778 chr1 246313588 246314521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46329528 46374488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCAF11 chr12 46343344 46386041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SCAF11 chr12 46343344 46386041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAF11 chr12 46343344 46386041 Gain and loss Pancreatic cancer SNP array 17952125 SCAF11 chr12 46343344 46386041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAF11 chr1 246351857 246352807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246351857 246352807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246352061 246352807 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr12 46369801 47106304 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 SCAF11,SLC38A1,SLC38A2 chr1 246371719 246371819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr1 246375073 246376011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246375073 246376011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246375073 246376011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46389795 46405617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46389795 46405617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46389795 46405617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246394001 246395500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMYD3 chr12 46400000 109000000 Copy number Endometrioid adenocarcinoma CGH 16974079 AAAS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADCY6,AGAP2,ALDH1L2,ALX1,AMDHD1,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANKS1B,ANO4,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARL1,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2B1,ATP5B,ATP5G2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf42,C12orf44,C12orf45,C12orf50,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C1QL4,CACNB3,CALCOCO1,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC53,CCDC59,CCDC65,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CPM,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CYP27B1,DAZAP2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DEPDC4,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX3,DUSP6,DYRK2,E2F7,EEA1,EID3,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FAM71C,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,FRS2,GALNT4,GALNT6,GAS2L3,GDF11,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,H1FNT,HAL,HCFC2,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,HSP90B1,IFNG,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KERA,KIAA1033,KIF5A,KITLG,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LIMA1,LIN7A,LINC00485,LINC00592,LINC00615,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506844,LOC100507250,LOC100507377,LOC100652999,LOC144486,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC400043,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRIQ1,LTA4H,LUM,LYZ,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3652,MIR3685,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4698,MIR4699,MIR4701,MIR492,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIRLET7I,MKRN9P,MLL2,MMP19,MON2,MRPL42,MRS2P2,MSRB3,MTERFD3,MUCL1,MYBPC1,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NDUFA12,NDUFA4L2,NEDD1,NEUROD4,NFE2,NFYB,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OSBPL8,OTOGL,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PHLDA1,PIP4K2C,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POU6F1,PPFIA2,PPM1H,PPP1R12A,PPP1R1A,PRDM4,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,PTPRB,PTPRQ,PTPRR,PWP1,R3HDM2,RAB21,RAB3IP,RAB5B,RACGAP1,RAP1B,RAPGEF3,RARG,RASSF3,RASSF9,RBMS2,RDH16,RDH5,RFX4,RHEBL1,RIC8B,RMST,RND1,RNF41,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SART3,SCN8A,SCYL2,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC17A8,SLC25A3,SLC26A10,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPRYD3,SPRYD4,SRGAP1,STAB2,STAC3,STAT2,STAT6,SUOX,SYCP3,SYT1,TAC3,TARBP2,TBC1D15,TBC1D30,TBK1,TCP11L2,TDG,TENC1,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMEM106C,TMEM119,TMEM19,TMEM194A,TMEM198B,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TROAP,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TXNRD1,UBE2N,UHRF1BP1L,USP15,USP44,UTP20,VDR,VEZT,WIBG,WIF1,WNT1,WNT10B,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF740 chr12 46400000 51500000 Loss and deletion Multiple myeloma Array CGH 16616336 ADCY6,AMIGO2,ANP32D,AQP2,AQP5,AQP6,ARF3,ASB8,ASIC1,ATF1,BCDIN3D,BCDIN3D-AS1,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CERS5,COL2A1,COX14,CSRNP2,DDN,DDX23,DHH,DIP2B,DNAJC22,ENDOU,FAIM2,FAM186A,FAM186B,FKBP11,FMNL3,GPD1,H1FNT,HDAC7,HIGD1C,KANSL2,KCNH3,LALBA,LARP4,LETMD1,LIMA1,LMBR1L,LOC100335030,LOC255411,LOC283332,MCRS1,METTL7A,MIR1291,MIR1293,MIR4698,MIR4701,MLL2,NCKAP5L,OR10AD1,OR8S1,PCED1B,PCED1B-AS1,PFKM,PRKAG1,PRPF40B,PRPH,RACGAP1,RAPGEF3,RHEBL1,RND1,RPAP3,SENP1,SLC11A2,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TFCP2,TMBIM6,TMEM106C,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WNT1,WNT10B,ZNF641 chr12 46400000 54900000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANP32D,AQP2,AQP5,AQP6,ARF3,ASB8,ASIC1,ATF1,ATF7,ATP5G2,BCDIN3D,BCDIN3D-AS1,BIN2,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CELA1,CERS5,COL2A1,COPZ1,COX14,CSAD,CSRNP2,DAZAP2,DDN,DDX23,DHH,DIP2B,DNAJC22,EIF4B,ENDOU,ESPL1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GPD1,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGB7,KANSL2,KCNH3,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400043,MAP3K12,MCRS1,METTL7A,MFSD5,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,NCKAP1L,NCKAP5L,NFE2,NPFF,NR4A1,OR10AD1,OR8S1,PCBP2,PCED1B,PCED1B-AS1,PFDN5,PFKM,POU6F1,PRKAG1,PRPF40B,PRPH,PRR13,RACGAP1,RAPGEF3,RARG,RHEBL1,RND1,RPAP3,SCN8A,SENP1,SLC11A2,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SMAGP,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SOAT2,SP1,SP7,SPATS2,SPRYD3,TARBP2,TENC1,TFCP2,TMBIM6,TMEM106C,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WNT1,WNT10B,ZNF385A,ZNF641,ZNF740 chr12 46400000 58100000 Amplification and deletion Breast cancer ddPCR 17661082 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,DAZAP2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DTX3,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPD1,GPR182,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400043,LRP1,MAP3K12,MARS,MBD6,MCRS1,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PMEL,POU6F1,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RAPGEF3,RARG,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RPAP3,RPL41,RPS26,SARNP,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC26A10,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM194A,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr12 46400000 58100000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,AMIGO2,ANKRD33,ANKRD52,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,DAZAP2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DTX3,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPD1,GPR182,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400043,LRP1,MAP3K12,MARS,MBD6,MCRS1,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4698,MIR4701,MIR615,MLL2,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PFDN5,PFKM,PIP4K2C,PMEL,POU6F1,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RAPGEF3,RARG,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RPAP3,RPL41,RPS26,SARNP,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC26A10,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM194A,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr12 46400230 46434803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 46402501 46501500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 246404335 246667943 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 SMYD3 chr1 246404508 246701712 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 LOC255654,SMYD3 chr1 246406755 246406835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr1 246409478 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr1 246409478 247249719 LOH Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr1 246409910 246410954 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246409911 246410954 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246409911 246410954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246409911 246410954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46415358 46415759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46417292 46451064 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 46417292 46451064 Gain or loss Cancer - 20668451 NOT_FOUND chr12 46417292 46451064 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 46417292 46451064 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 46417292 46451064 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 46417292 46451064 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 46417296 46439128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46417296 46439128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46417306 46439128 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 46417307 46439128 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46421166 46534198 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 246432992 246433931 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246432993 246433931 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246432993 246433931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246432993 246433931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246437310 246577207 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 246452625 246971257 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M chr12 46453258 46461719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46453258 46461719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46453288 46462800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 46453288 46462800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46459648 46459748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 46462776 46499924 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 46462776 46499924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46462776 46499924 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46462776 46499924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246468853 246469789 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246468854 246469789 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246468854 246469789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246468854 246469789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246477899 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr1 246479473 246479548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr12 46483725 46483817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246492163 246514556 Copy number gain Normal High-resolution SNP genotyping 21211785 SMYD3 chr1 246492163 246514556 Copy number loss Normal High-resolution SNP genotyping 21211785 SMYD3 chr12 46496372 46496472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246502776 246503739 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246502777 246503739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246502777 246503739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246502777 246503739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246514556 246872020 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CNST,LOC255654,SMYD3,TFB2M chr12 46521589 46585081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC38A1 chr12 46521589 46585081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC38A1 chr12 46521589 46585081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A1 chr12 46522694 46585053 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A1 chr1 246524540 246525503 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246524541 246525503 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246524541 246525503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246524541 246525503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46548968 132349534 Copy number Lung cancer paired-end sequencing 18438408 AAAS,AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADCY6,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,ENDOU,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RPAP3,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr1 246553554 246554493 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246553555 246554493 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246553555 246554493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246553555 246554493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46562699 46581575 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC38A1 chr12 46562699 46581575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A1 chr1 246578699 246579638 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246578700 246579638 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246578700 246579638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246578700 246579638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246578810 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr1 246579492 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr1 246585974 246586155 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 SMYD3 chr1 246591505 246592552 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246591506 246592552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246591506 246592552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246591506 246592552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246592119 246592345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr1 246592328 246592558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr1 246592381 246592481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD3 chr12 46602650 47434453 LOH Normal High-resolution SNP genotyping 21211785 SLC38A1,SLC38A2,SLC38A4 chr12 46603108 46603208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC38A1 chr12 46603781 46603881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC38A1 chr12 46615017 46615049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC38A1 chr1 246617255 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr1 246617532 246618459 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246617533 246618459 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246617533 246618459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246617533 246618459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46620958 46621348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC38A1 chr12 46626339 47273289 LOH Normal High-resolution SNP genotyping 21211785 SLC38A1,SLC38A2,SLC38A4 chr1 246635918 246637028 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 SMYD3 chr1 246635919 246637028 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMYD3 chr1 246635919 246637028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr1 246635919 246637028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD3 chr12 46643655 46648927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC38A1 chr12 46643655 46648927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A1 chr12 46644259 46648927 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC38A1 chr12 46644259 46648927 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A1 chr12 46647534 47251745 LOH Normal High-resolution SNP genotyping 21211785 SLC38A1,SLC38A2,SLC38A4 chr1 246652895 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,SMYD3,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr12 46653015 46684552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC38A1 chr12 46653015 46684552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC38A1 chr12 46653015 46684552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A1 chr12 46653018 46684528 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A1 chr12 46654001 46667500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC38A1 chr1 246663526 246902374 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CNST,LOC255654,SCCPDH,SMYD3,TFB2M chr1 246667224 246904019 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CNST,LOC255654,SCCPDH,SMYD3,TFB2M chr1 246669867 246803482 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CNST,LOC255654,SMYD3,TFB2M chr1 246670943 246684936 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC255654 chr1 246671106 246672051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24667228 24681122 Gain and loss Pancreatic cancer SNP array 17952125 GRHL3 chr1 246672375 246687782 Gain Normal Birdsuite, version 1.5.2 22087296 LOC255654 chr12 46681501 46686000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 246682721 246683696 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 LOC255654 chr1 246682722 246683696 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC255654 chr1 246682722 246683696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC255654 chr12 46683844 46683944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246684936 247249719 LOH Normal High-resolution SNP genotyping 21211785 AHCTF1,CNST,LOC149134,LOC255654,SCCPDH,TFB2M,ZNF670,ZNF670-ZNF695,ZNF695 chr12 46686001 47440000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC38A2,SLC38A4 chr1 246687782 246702344 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 246687782 246702344 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 46689490 46689590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246702344 246727175 Gain Normal Birdsuite, version 1.5.2 22087296 TFB2M chr1 246703275 246704231 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TFB2M chr1 246703275 246704231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFB2M chr1 246703275 246704231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFB2M chr1 246707804 246877268 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CNST,TFB2M chr1 246713386 246852155 Loss Oral cancer 105K CGH oligonucleotide array 21386901 CNST,TFB2M chr12 46715969 47111766 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC38A2 chr1 246718513 246719460 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TFB2M chr1 246718513 246719460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFB2M chr1 246718513 246719460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFB2M chr12 46722948 46785886 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC38A2 chr12 46722948 46785886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A2 chr12 46722948 46786042 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A2 chr12 46723023 46786358 Copy number Lung cancer - 20668451 SLC38A2 chr12 46723023 46786358 Gain or loss Breast cancer - 20668451 SLC38A2 chr12 46723023 46786358 Gain or loss Cancer - 20668451 SLC38A2 chr12 46723023 46786358 Gain or loss Lung cancer - 20668451 SLC38A2 chr12 46723023 46786358 Gain or loss Ovarian cancer - 20668451 SLC38A2 chr12 46723023 46786358 Gain or loss Pancreas cancer - 20668451 SLC38A2 chr12 46723023 46786358 Gain or loss Prostate cancer - 20668451 SLC38A2 chr1 246740696 246749190 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CNST chr1 246750011 246764002 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246750011 246877269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CNST chr1 246751571 246752521 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNST chr1 246751571 246752521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNST chr1 246751571 246752521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNST chr12 46761369 46761464 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A2 chr12 46761369 46761475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A2 chr12 46761369 46761478 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A2 chr1 246764002 246877269 Deletion Normal Affymetrix 6.0 microarrays 20967226 CNST chr1 246764002 246877269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CNST chr1 246764002 246877269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr12 46765106 46765465 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A2 chr1 246776227 246877269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CNST chr1 246776227 246877269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246776239 246861912 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CNST chr1 246779387 246779681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNST chr1 246780491 246892443 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CNST,SCCPDH chr1 246785226 246856303 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246785226 246877269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr12 46785973 46826154 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 46785973 46826154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46787424 46826154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46787424 46826154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246788468 246789415 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNST chr1 246788468 246789415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNST chr1 246788468 246789415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNST chr1 246791857 246875180 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CNST chr1 246798656 246815816 Loss Normal Birdsuite, version 1.5.2 22087296 CNST chr1 246798656 246863824 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246798656 246875475 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246798656 246877269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246803725 246804681 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNST chr1 246803725 246804681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNST chr1 246803725 246804681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNST chr1 246804059 246863823 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CNST chr1 246804070 246875732 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CNST chr1 246805876 246862104 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CNST chr1 246805876 246862104 Total allelic loss Normal High-resolution SNP genotyping 21211785 CNST chr1 246805876 246902374 Copy number loss Normal High-resolution SNP genotyping 21211785 CNST,SCCPDH chr1 246809575 246862104 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CNST chr1 246809575 246862104 Total allelic loss Normal High-resolution SNP genotyping 21211785 CNST chr1 246815805 246863824 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246815805 246875180 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246815805 246877269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246815816 246815817 Loss Normal Birdsuite, version 1.5.2 22087296 CNST chr1 246815817 246863836 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CNST chr1 246815817 246863836 Loss Normal Birdsuite, version 1.5.2 22087296 CNST chr1 246819827 246877269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNST chr1 246822753 246823692 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CNST chr1 246822754 246823692 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNST chr1 246822754 246823692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNST chr1 246822754 246823692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNST chr1 246824849 246824957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNST chr12 46827841 46837644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 46827841 46837644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46827841 46837644 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46827841 46837644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4682951 4716525 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DYRK4 chr12 46840299 46840989 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46851910 46931828 Loss Normal 244K array 17666407 NOT_FOUND chr1 246856102 246857052 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 246856102 246857052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246856102 246857052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46863666 46865976 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 46863666 46865976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46863666 46865976 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46863666 46865976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246863836 246877269 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 246868211 246869182 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 246868211 246869182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246868211 246869182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246874945 246875514 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 46875286 47111766 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 246877269 246880703 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 46878411 46882118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 246879855 246880808 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 246879855 246880808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246879855 246880808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246880703 246914451 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SCCPDH chr12 46882388 46883342 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 46882389 46883342 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 46882389 46883342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46882389 46883342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 46882389 46883342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 246886515 246967485 Gain Stenocardia MACArray Karyo 9K BAC-chips 21860640 LOC149134,SCCPDH chr1 246886515 246967485 Gain Vasospasm MACArray Karyo 9K BAC-chips 21860640 LOC149134,SCCPDH chr12 4689929 4689984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 246911293 246912228 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SCCPDH chr1 246911293 246912228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCCPDH chr1 246911293 246912228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCCPDH chr1 246916485 246916761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCCPDH chr1 246932776 246933038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 246933508 246933989 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 246933811 246942714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 246933867 246939281 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 246951917 246952125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 46958573 46995644 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 24697210 24697310 Gain and loss Pancreatic cancer SNP array 17952125 STPG1 chr1 24697212 24697309 Gain and loss Pancreatic cancer SNP array 17952125 STPG1 chr12 4700013 4752153 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKAP3,DYRK4 chr12 4700013 4752153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKAP3,DYRK4 chr12 4700013 4752153 Gain and loss Pancreatic cancer SNP array 17952125 AKAP3,DYRK4 chr12 4700013 4752153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP3,DYRK4 chr12 47009030 47010329 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47009030 47010329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47009030 47010329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47009030 47010329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47011494 47011670 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 47011734 47014646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 24701974 24736091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STPG1 chr1 24701974 24736091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STPG1 chr12 47020178 47030821 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47020178 47030821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47020178 47030821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47022185 47030269 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47023413 47071744 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 47028791 47093265 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 247032457 247034614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHCTF1 chr1 247034191 247138092 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AHCTF1,ZNF670-ZNF695,ZNF695 chr12 47046186 47048005 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47046663 47074456 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr12 47055041 47093265 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 247056223 247059976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AHCTF1 chr12 47064937 47093265 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 247065501 247249719 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHCTF1,ZNF670,ZNF670-ZNF695,ZNF695 chr1 247071273 247086777 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHCTF1 chr1 247071274 247086777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHCTF1 chr1 247071274 247086777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHCTF1 chr1 247071274 247087455 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AHCTF1 chr1 247075360 247075440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AHCTF1 chr1 247082090 247124862 Indels Normal Affymetrix and Illumina arrays 20811451 AHCTF1,ZNF670-ZNF695,ZNF695 chr12 4708371 4708460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYRK4 chr1 24709826 24724684 Copy number Lung cancer paired-end sequencing 18438408 STPG1 chr1 247099152 247110337 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF670-ZNF695,ZNF695 chr1 247099153 247110336 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF670-ZNF695,ZNF695 chr1 247099153 247110336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF670-ZNF695,ZNF695 chr1 247099153 247110336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF670-ZNF695,ZNF695 chr1 247110827 247119907 Amplification Lobular carcinoma aCGH 20658264 ZNF670-ZNF695,ZNF695 chr1 247110827 247119907 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF670-ZNF695,ZNF695 chr1 247110827 247119907 Amplification Malaria PCR,Pyrosequencing assay design software, version 1.0 21633513 ZNF670-ZNF695,ZNF695 chr1 247110828 247119907 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF670-ZNF695,ZNF695 chr1 247110828 247119907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF670-ZNF695,ZNF695 chr1 247110828 247119907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF670-ZNF695,ZNF695 chr12 4711483 4711558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYRK4 chr12 4711512 4711584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYRK4 chr12 47120593 47128419 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 47122095 47122979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 247140057 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ZNF670,ZNF670-ZNF695,ZNF695 chr1 247142348 247142448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF670-ZNF695,ZNF695 chr1 247143892 247249719 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ZNF670,ZNF670-ZNF695,ZNF695 chr1 24714900 24745067 Gain and loss Pancreatic cancer SNP array 17952125 NIPAL3,STPG1 chr12 47152715 47153110 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47152715 47153110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47152715 47153110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47152715 47153110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47163108 47163188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A4 chr12 47163290 47176430 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC38A4 chr12 47163290 47176430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC38A4 chr12 47163290 47176430 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A4 chr12 47163290 47176430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A4 chr1 247167018 247179967 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF670-ZNF695,ZNF695 chr1 247167018 247179967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF670-ZNF695,ZNF695 chr1 247167018 247179967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF670-ZNF695,ZNF695 chr1 247173512 247173617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF670-ZNF695 chr12 47179635 47179735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC38A4 chr12 47183738 47218732 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC38A4 chr12 47196862 47197504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC38A4 chr1 247197525 247197938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF670-ZNF695 chr12 47205682 47208153 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC38A4 chr12 47205682 47208153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC38A4 chr12 47205682 47208153 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A4 chr12 47205682 47208153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A4 chr1 2472137 2490197 Gain and loss Pancreatic cancer SNP array 17952125 LOC100133445,LOC115110,TNFRSF14 chr12 47222861 47222961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 47235817 47235917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 47239869 47243000 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47239869 47243000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47239947 47243006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 247243440 247243540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 47247735 47250096 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47247735 47250096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47247735 47250096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47247735 47250096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4724938 5207364 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKAP3,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9 chr12 47307932 47308472 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47311739 47340758 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 47311739 47341066 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 47311739 47351805 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 47333452 47362275 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47333467 47362270 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47333467 47362270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47333467 47362270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47334432 47334568 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47334494 47334580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47336698 47336832 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47336698 47336832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47341066 47352254 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 47347507 47347643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47347507 47347643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47353206 47353306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 47373019 47397048 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47373019 47397048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47373019 47397048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47373019 47397048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47384342 48639263 Gain Anaplastic thyroid cancer 33K microarrays 18753363 AMIGO2,ASB8,C12orf68,COL2A1,ENDOU,HDAC7,MIR4698,OR10AD1,PCED1B,PCED1B-AS1,PFKM,RAPGEF3,RPAP3,SENP1,SLC48A1,TMEM106C,VDR chr1 24738781 24738884 Gain and loss Pancreatic cancer SNP array 17952125 STPG1 chr1 24739296 32339056 Copy number Lung cancer paired-end sequencing 18438408 AHDC1,AIM1L,ARID1A,ATPIF1,AUNIP,BAI2,C1orf172,C1orf63,CATSPER4,CD164L2,CD52,CEP85,CLIC4,CNKSR1,COL16A1,DHDDS,DNAJC8,EPB41,EXTL1,EYA3,FABP3,FAM110D,FAM46B,FAM54B,FAM76A,FCN3,FGR,GMEB1,GPATCH3,GPN2,GPR3,HCRTR1,HMGN2,IFI6,LAPTM5,LDLRAP1,LIN28A,LOC149086,LOC284551,LOC644961,LOC646471,MAN1C1,MAP3K6,MATN1,MATN1-AS1,MECR,MED18,MIR1976,MIR3917,MIR4254,MIR4420,NCMAP,NIPAL3,NKAIN1,NR0B2,NUDC,OPRD1,PAFAH2,PAQR7,PDIK1L,PEF1,PHACTR4,PIGV,PPP1R8,PTAFR,PTPRU,PUM1,RAB42,RCAN3,RCAN3AS,RCC1,RHCE,RHD,RNU11,RPA2,RPS6KA1,RUNX3,SCARNA1,SDC3,SEPN1,SERINC2,SESN2,SFN,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPOCD1,SRRM1,SRSF4,STMN1,STPG1,STX12,SYF2,SYTL1,TAF12,THEMIS2,TINAGL1,TMEM200B,TMEM222,TMEM50A,TMEM57,TRIM63,TRNAU1AP,TRNP1,UBXN11,WASF2,WDTC1,XKR8,YTHDF2,ZCCHC17,ZDHHC18,ZNF593,ZNF683 chr12 4742680 4742912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP3 chr12 47446248 47464157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47446248 47469087 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47446248 47469087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47446248 47469087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4745916 5230484 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKAP3,GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9 chr12 47475198 47508846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 47489961 47490064 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47489961 47490066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 247496256 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 47498779 47508991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47498779 47508991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47498779 47508991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47509807 47532224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47509807 47532224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47509807 47532224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47537198 47545948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47537198 47545948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47537203 47545920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 24755189 24808403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPAL3 chr1 247561039 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 4756365 5379126 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GALNT8,KCNA1,KCNA5,KCNA6,NDUFA9 chr12 47569292 48470202 LOH Normal High-resolution SNP genotyping 21211785 COL2A1,ENDOU,HDAC7,MIR4698,PCED1B,PCED1B-AS1,RAPGEF3,RPAP3,SENP1,SLC48A1,TMEM106C,VDR chr12 47572180 47572278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47572180 47572278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47572202 47572278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47584159 47601625 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 47584187 47611527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCED1B,PCED1B-AS1 chr12 47584187 47611527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCED1B,PCED1B-AS1 chr12 47584187 47611890 Gain and loss Pancreatic cancer SNP array 17952125 PCED1B,PCED1B-AS1 chr12 47595565 47595642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47600000 52700000 Deletion Schizophrenia Genome-Wide Approaches 20433910 ACVR1B,ACVRL1,ADCY6,ANKRD33,ANP32D,AQP2,AQP5,AQP6,ARF3,ASB8,ASIC1,ATF1,BCDIN3D,BCDIN3D-AS1,BIN2,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CELA1,CERS5,COL2A1,COX14,CSRNP2,DAZAP2,DDN,DDX23,DHH,DIP2B,DNAJC22,ENDOU,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FMNL3,GALNT6,GPD1,GRASP,H1FNT,HDAC7,HIGD1C,KANSL2,KCNH3,KRT7,KRT80,KRT81,KRT86,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100335030,LOC255411,LOC283332,LOC283403,MCRS1,METTL7A,MIR1291,MIR1293,MIR4701,MLL2,NCKAP5L,NR4A1,OR10AD1,OR8S1,PCED1B,PCED1B-AS1,PFKM,POU6F1,PRKAG1,PRPF40B,PRPH,RACGAP1,RAPGEF3,RHEBL1,RND1,RPAP3,SCN8A,SENP1,SLC11A2,SLC48A1,SLC4A8,SMAGP,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TFCP2,TMBIM6,TMEM106C,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WNT1,WNT10B,ZNF641 chr12 47602010 47605555 Gain and loss Pancreatic cancer SNP array 17952125 PCED1B-AS1 chr12 47602019 47605555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCED1B-AS1 chr12 47602019 47605555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCED1B-AS1 chr12 47607989 47608083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCED1B-AS1 chr12 47607991 47608083 Gain and loss Pancreatic cancer SNP array 17952125 PCED1B-AS1 chr12 47616259 47637577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCED1B chr12 47616259 47637577 Gain and loss Pancreatic cancer SNP array 17952125 PCED1B chr12 47616259 47637577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCED1B chr1 24762678 24763044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPAL3 chr12 47640790 47640886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47640790 47640886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47645389 47651810 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 47645389 47651810 Gain or loss Cancer - 20668451 NOT_FOUND chr12 47645389 47651810 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 47645389 47651810 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 47645389 47651810 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 47645389 47651810 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 47645391 47651810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47645391 47651810 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47645391 47651810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47655593 47655695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47655593 47655696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47655593 47655696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47658438 48519691 LOH Normal High-resolution SNP genotyping 21211785 COL2A1,ENDOU,HDAC7,PFKM,RAPGEF3,RPAP3,SENP1,SLC48A1,TMEM106C,VDR chr12 47658502 47662746 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 47658502 47662746 Gain or loss Cancer - 20668451 NOT_FOUND chr12 47658502 47662746 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 47658502 47662746 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 47658502 47662746 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 47658502 47662746 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 47658503 47662746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47658503 47662746 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47658503 47662746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47660000 57260000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 AAAS,ACVR1B,ACVRL1,ADCY6,AMHR2,ANKRD33,ANKRD52,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CALCOCO1,CBX5,CCDC65,CCNT1,CD63,CDK2,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,DAZAP2,DCD,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FLJ12825,FMNL3,GALNT6,GDF11,GLS2,GLYCAM1,GPD1,GPR84,GRASP,GTSF1,H1FNT,HDAC7,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100240734,LOC100240735,LOC100335030,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400043,MAP3K12,MCRS1,METTL7A,METTL7B,MFSD5,MIP,MIR1291,MIR1293,MIR148B,MIR196A2,MIR3198-2,MIR4701,MIR615,MLL2,MMP19,MUCL1,MYL6,MYL6B,NABP2,NACA,NCKAP1L,NCKAP5L,NEUROD4,NFE2,NPFF,NR4A1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,PA2G4,PAN2,PCBP2,PDE1B,PFDN5,PFKM,PMEL,POU6F1,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,RAB5B,RACGAP1,RAPGEF3,RARG,RBMS2,RDH5,RHEBL1,RND1,RNF41,RPAP3,RPL41,RPS26,SARNP,SCN8A,SENP1,SLC11A2,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,STAT2,SUOX,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM6,TMEM106C,TMEM198B,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WIBG,WNT1,WNT10B,ZC3H10,ZNF385A,ZNF641,ZNF740 chr12 47675200 47679359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47675200 47679359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47675200 47679359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47677750 47678481 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 47682321 47698859 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 47682321 47698859 Gain or loss Cancer - 20668451 NOT_FOUND chr12 47682321 47698859 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 47682321 47698859 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 47682321 47698859 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 47682321 47698859 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 47682325 47698859 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47682325 47698863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47682325 47698863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24768248 24773372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NIPAL3 chr12 47699025 47735374 Copy number Autism exome sequencing 22495311 NOT_FOUND chr12 47699027 47735374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47699029 47735374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47699029 47735374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47699585 47730192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 4770733 4770877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFA9 chr12 4770878 4771074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFA9 chr12 47744734 47750042 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 47744734 47750042 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 47744734 47750042 Gain or loss Cancer - 20668451 NOT_FOUND chr12 47744734 47750042 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 47744734 47750042 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 47744734 47750042 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 47744734 47750042 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 47744735 47750042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47744735 47750042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47744735 47750075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47746494 47749854 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 24774926 24775010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NIPAL3 chr12 47756293 47756765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 47760450 47760484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 247763935 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 47769472 47774869 Copy number Lung cancer - 20668451 NOT_FOUND chr12 47769472 47774869 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 47769472 47774869 Gain or loss Cancer - 20668451 NOT_FOUND chr12 47769472 47774869 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 47769472 47774869 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 47769472 47774869 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 47769472 47774869 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 47769475 47774869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47769475 47774869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47769475 47774869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47777192 47790914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47777221 47790747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47777221 47790747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47807836 47811445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47807836 47811571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47807836 47811571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47812903 47812997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47812905 47812997 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47812906 47812997 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47813421 47813521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 47826641 69088923 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AAAS,ACVR1B,ACVRL1,ADCY6,AGAP2,AMHR2,ANKRD33,ANKRD52,ANP32D,APOF,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ASB8,ASIC1,ATF1,ATF7,ATP5B,ATP5G2,AVIL,AVPR1A,B4GALNT1,BAZ2A,BCDIN3D,BCDIN3D-AS1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf54,C12orf56,C12orf61,C12orf66,C12orf68,C1QL4,CACNB3,CALCOCO1,CAND1,CBX5,CCDC65,CCNT1,CD63,CDK2,CDK4,CELA1,CERS5,CNPY2,COL2A1,COPZ1,COQ10A,COX14,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DCD,DCTN2,DDIT3,DDN,DDX23,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DPY19L2,DTX3,DYRK2,EIF4B,ENDOU,ERBB3,ESPL1,ESYT1,FAIM2,FAM186A,FAM186B,FAM19A2,FIGNL2,FKBP11,FLJ12825,FLJ41278,FMNL3,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GNS,GPD1,GPR182,GPR84,GRASP,GRIP1,GTSF1,H1FNT,HDAC7,HELB,HIGD1C,HMGA2,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IFNG,IGFBP6,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,ITGA5,ITGA7,ITGB7,KANSL2,KCNH3,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LALBA,LARP4,LEMD3,LETMD1,LIMA1,LINC00592,LLPH,LMBR1L,LOC100130776,LOC100240734,LOC100240735,LOC100335030,LOC100506844,LOC100507250,LOC100652999,LOC255411,LOC283332,LOC283335,LOC283403,LOC400043,LRIG3,LRP1,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MDM1,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR1291,MIR1293,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR4701,MIR548C,MIR548Z,MIR615,MIRLET7I,MLL2,MMP19,MON2,MSRB3,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NCKAP5L,NDUFA4L2,NEUROD4,NFE2,NPFF,NR4A1,NUP107,NXPH4,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PDE1B,PFDN5,PFKM,PIP4K2C,PMEL,POU6F1,PPM1H,PPP1R1A,PRIM1,PRKAG1,PRPF40B,PRPH,PRR13,PTGES3,R3HDM2,RAB5B,RACGAP1,RAP1B,RAPGEF3,RARG,RASSF3,RBMS2,RDH16,RDH5,RHEBL1,RND1,RNF41,RPAP3,RPL41,RPS26,RPSAP52,SARNP,SCN8A,SDR9C7,SENP1,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC39A5,SLC48A1,SLC4A8,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA70G,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TBC1D30,TBK1,TENC1,TESPA1,TFCP2,TIMELESS,TMBIM4,TMBIM6,TMEM106C,TMEM194A,TMEM198B,TMEM5,TMPRSS12,TROAP,TSFM,TSPAN31,TUBA1A,TUBA1B,TUBA1C,USP15,VDR,WIBG,WIF1,WNT1,WNT10B,XPOT,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A,ZNF641,ZNF740 chr1 2478310 2478741 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 47847061 47847205 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47847061 47847205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47864847 47869128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47864847 47869128 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47864847 47869128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47864849 47869128 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 47864850 47869128 Copy number Autism exome sequencing 22495311 NOT_FOUND chr12 478761 479104 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KDM5A chr12 47891952 50503942 LOH Normal High-resolution SNP genotyping 21211785 ADCY6,ANP32D,AQP2,AQP5,AQP6,ARF3,ASB8,ASIC1,BCDIN3D,BCDIN3D-AS1,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,COL2A1,DDN,DDX23,DHH,DNAJC22,ENDOU,FAIM2,FAM186B,FKBP11,FMNL3,GPD1,H1FNT,HDAC7,KANSL2,KCNH3,LALBA,LMBR1L,LOC100335030,LOC255411,LOC283332,MCRS1,MIR1291,MIR4701,MLL2,NCKAP5L,OR10AD1,OR8S1,PFKM,PRKAG1,PRPF40B,PRPH,RACGAP1,RAPGEF3,RHEBL1,RND1,RPAP3,SENP1,SLC48A1,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TMBIM6,TMEM106C,TROAP,TUBA1A,TUBA1B,TUBA1C,VDR,WNT1,WNT10B,ZNF641 chr12 4789372 4791132 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NDUFA9 chr12 4789372 4791132 Gain and loss Pancreatic cancer SNP array 17952125 NDUFA9 chr12 4789372 4791132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFA9 chr1 247899556 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 47906901 47931299 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 4790939 4791284 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NDUFA9 chr1 247912876 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 2479153 2486613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC115110 chr1 2479153 2486757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC115110 chr1 2479153 2486757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC115110 chr12 47943501 48247100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENDOU,HDAC7,RAPGEF3,RPAP3,SLC48A1,VDR chr12 47945132 47953383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47945132 47953383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47945132 47953383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47954465 47954536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 47973752 47978732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 47973752 47978732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 47973752 47978732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 247976244 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 47986786 47986886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 48003237 48011781 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 48003238 48011781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48003238 48011781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48003329 48011781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48012461 48017233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48012461 48017233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48012466 48017238 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 48012467 48017238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 24801383 24801668 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 48015587 48015666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 48026967 48031950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48026967 48031950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48026967 48031950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48027307 48031952 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 48034501 48213000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENDOU,HDAC7,RAPGEF3,RPAP3,SLC48A1 chr12 48046955 48207474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENDOU,HDAC7,RAPGEF3,RPAP3,SLC48A1 chr12 48046955 48207474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENDOU,HDAC7,RAPGEF3,RPAP3,SLC48A1 chr12 48047584 48207464 Gain and loss Pancreatic cancer SNP array 17952125 ENDOU,HDAC7,RAPGEF3,RPAP3,SLC48A1 chr12 48065915 48066014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPAP3 chr12 48069566 48069944 Gain and loss Pancreatic cancer SNP array 17952125 RPAP3 chr12 48156310 49186833 LOH Normal High-resolution SNP genotyping 21211785 ADCY6,ANP32D,ASB8,C12orf54,C12orf68,CCNT1,COL2A1,H1FNT,HDAC7,KANSL2,LALBA,LOC255411,MIR1291,MIR4701,OR10AD1,OR8S1,PFKM,SENP1,SLC48A1,SNORA2A,SNORA2B,SNORA34,TMEM106C,VDR,ZNF641 chr12 48161633 48161723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 4816381 4816563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 4816682 4816776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 24817154 24916064 Gain and loss Pancreatic cancer SNP array 17952125 NCMAP,RCAN3,RCAN3AS chr12 48219206 48238344 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 VDR chr12 48219207 48238326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VDR chr12 48219207 48238326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VDR chr12 48219207 48238344 Gain and loss Pancreatic cancer SNP array 17952125 VDR chr12 48238355 48248178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VDR chr12 48238355 48248178 Gain and loss Pancreatic cancer SNP array 17952125 VDR chr12 48238355 48248178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VDR chr12 48247101 48829000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASB8,C12orf68,COL2A1,H1FNT,OR10AD1,PFKM,SENP1,TMEM106C,VDR,ZNF641 chr12 48247764 48247864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VDR chr12 48267557 48285689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VDR chr12 48267557 48285689 Gain and loss Pancreatic cancer SNP array 17952125 VDR chr12 48267557 48285689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VDR chr12 48273154 48273256 Gain and loss Pancreatic cancer SNP array 17952125 VDR chr12 48273154 48273263 Gain and loss Pancreatic cancer SNP array 17952125 VDR chr12 48273154 48273263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VDR chr12 48290475 48290545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VDR chr12 48303670 48324716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48303670 48324716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48303670 48324716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48309243 48352731 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr12 48317991 48387262 Gain and loss Pancreatic cancer SNP array 17952125 COL2A1,TMEM106C chr12 48317991 48387464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL2A1,TMEM106C chr12 48317991 48387464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL2A1,TMEM106C chr12 48357687 131293455 Substitutions and indels small cell lung cancer array-CGH 20016488 AAAS,AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADCY6,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,AMHR2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,ANP32D,APAF1,APOF,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASB8,ASCL1,ASCL4,ASIC1,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCDIN3D,BCDIN3D-AS1,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf54,C12orf56,C12orf61,C12orf65,C12orf66,C12orf68,C12orf73,C12orf74,C12orf75,C12orf76,C1QL4,CABP1,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC92,CCER1,CCNT1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CERS5,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COL2A1,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DCD,DCN,DCTN2,DDIT3,DDN,DDX23,DDX54,DDX55,DENR,DEPDC4,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAIM2,FAM101A,FAM109A,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FKBP11,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPD1,GPN3,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,H1FNT,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,ITGA5,ITGA7,ITGB7,KANSL2,KCNC2,KCNH3,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LALBA,LARP4,LEMD3,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LMBR1L,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100335030,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLL2,MLXIP,MMAB,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PDE1B,PEBP1,PFDN5,PFKM,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRIM1,PRKAB1,PRKAG1,PRPF40B,PRPH,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RAD9B,RAP1B,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHEBL1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TUBA1A,TUBA1B,TUBA1C,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WNT1,WNT10B,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF740 chr12 48364391 48701968 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ASB8,C12orf68,COL2A1,OR10AD1,PFKM,SENP1 chr12 48366747 48398285 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 COL2A1 chr12 48372836 48372882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL2A1 chr12 48400000 53100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACVR1B,ACVRL1,ADCY6,ANKRD33,ANP32D,AQP2,AQP5,AQP6,ARF3,ASB8,ASIC1,ATF1,BCDIN3D,BCDIN3D-AS1,BIN2,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CELA1,CERS5,COX14,CSRNP2,DAZAP2,DDN,DDX23,DHH,DIP2B,DNAJC22,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FMNL3,GALNT6,GPD1,GRASP,H1FNT,HIGD1C,KANSL2,KCNH3,KRT1,KRT2,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT77,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100335030,LOC255411,LOC283332,LOC283403,MCRS1,METTL7A,MIR1291,MIR1293,MIR4701,MLL2,NCKAP5L,NR4A1,OR10AD1,OR8S1,PFKM,POU6F1,PRKAG1,PRPF40B,PRPH,RACGAP1,RHEBL1,RND1,SCN8A,SENP1,SLC11A2,SLC4A8,SMAGP,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TFCP2,TMBIM6,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,WNT1,WNT10B,ZNF641 chr12 48400000 53100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACVR1B,ACVRL1,ADCY6,ANKRD33,ANP32D,AQP2,AQP5,AQP6,ARF3,ASB8,ASIC1,ATF1,BCDIN3D,BCDIN3D-AS1,BIN2,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CELA1,CERS5,COX14,CSRNP2,DAZAP2,DDN,DDX23,DHH,DIP2B,DNAJC22,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FMNL3,GALNT6,GPD1,GRASP,H1FNT,HIGD1C,KANSL2,KCNH3,KRT1,KRT2,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT77,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100335030,LOC255411,LOC283332,LOC283403,MCRS1,METTL7A,MIR1291,MIR1293,MIR4701,MLL2,NCKAP5L,NR4A1,OR10AD1,OR8S1,PFKM,POU6F1,PRKAG1,PRPF40B,PRPH,RACGAP1,RHEBL1,RND1,SCN8A,SENP1,SLC11A2,SLC4A8,SMAGP,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TFCP2,TMBIM6,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,WNT1,WNT10B,ZNF641 chr12 48400000 53100000 Gain Intracranial ependymoma matrix-based CGH 16609018 ACVR1B,ACVRL1,ADCY6,ANKRD33,ANP32D,AQP2,AQP5,AQP6,ARF3,ASB8,ASIC1,ATF1,BCDIN3D,BCDIN3D-AS1,BIN2,C12orf44,C12orf54,C12orf68,C1QL4,CACNB3,CCDC65,CCNT1,CELA1,CERS5,COX14,CSRNP2,DAZAP2,DDN,DDX23,DHH,DIP2B,DNAJC22,FAIM2,FAM186A,FAM186B,FIGNL2,FKBP11,FMNL3,GALNT6,GPD1,GRASP,H1FNT,HIGD1C,KANSL2,KCNH3,KRT1,KRT2,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT77,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LALBA,LARP4,LETMD1,LIMA1,LINC00592,LMBR1L,LOC100335030,LOC255411,LOC283332,LOC283403,MCRS1,METTL7A,MIR1291,MIR1293,MIR4701,MLL2,NCKAP5L,NR4A1,OR10AD1,OR8S1,PFKM,POU6F1,PRKAG1,PRPF40B,PRPH,RACGAP1,RHEBL1,RND1,SCN8A,SENP1,SLC11A2,SLC4A8,SMAGP,SMARCD1,SNORA2A,SNORA2B,SNORA34,SPATS2,TFCP2,TMBIM6,TMPRSS12,TROAP,TUBA1A,TUBA1B,TUBA1C,WNT1,WNT10B,ZNF641 chr12 48421607 48444984 Gain and loss Pancreatic cancer SNP array 17952125 SENP1 chr12 48421630 48460589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP1 chr1 24842181 24872358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCAN3 chr1 24842181 24872358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCAN3 chr12 48443974 48444074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SENP1 chr12 48471196 48477052 Gain and loss Pancreatic cancer SNP array 17952125 SENP1 chr12 48471202 48508475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PFKM,SENP1 chr12 48471202 48508475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFKM,SENP1 chr12 48483000 48484082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP1 chr1 24849671 24849776 Gain and loss Pancreatic cancer SNP array 17952125 RCAN3 chr12 48497393 48497461 Gain and loss Pancreatic cancer SNP array 17952125 SENP1 chr12 48497459 48497529 Gain and loss Pancreatic cancer SNP array 17952125 SENP1 chr12 48497459 48497529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP1 chr12 48502908 48502983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PFKM chr12 48508592 48521203 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PFKM chr12 48516515 48516592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PFKM chr12 48517824 48523142 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PFKM chr12 48517827 48523142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PFKM chr12 48517827 48523142 Gain and loss Pancreatic cancer SNP array 17952125 PFKM chr12 48517827 48523142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFKM chr12 48544778 48559962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB8 chr12 48546946 48583987 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ASB8,C12orf68 chr12 48546947 48583987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB8,C12orf68 chr12 48546947 48583987 Gain and loss Pancreatic cancer SNP array 17952125 ASB8,C12orf68 chr12 48546947 48583987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB8,C12orf68 chr12 48557746 48560301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48558141 48559288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 485647 611772 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 B4GALNT3,CCDC77,KDM5A chr12 48573820 48573920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 24858220 24858300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCAN3 chr12 48598415 48598509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 48606797 48606857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 24861624 24909032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCMAP,RCAN3 chr1 24862824 24867531 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 RCAN3 chr12 48630548 49508142 LOH Normal High-resolution SNP genotyping 21211785 ADCY6,ANP32D,ARF3,C12orf54,CACNB3,CCDC65,CCNT1,DDN,DDX23,DHH,FKBP11,H1FNT,KANSL2,LALBA,LMBR1L,LOC255411,MIR1291,MIR4701,MLL2,OR8S1,PRKAG1,RHEBL1,RND1,SNORA2A,SNORA2B,SNORA34,WNT1,WNT10B,ZNF641 chr12 48630796 48638926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48630796 48638926 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48630796 48638926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48641545 48645728 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 48641920 48645701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48642001 48645730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48647244 48657189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48651069 49608807 LOH Normal High-resolution SNP genotyping 21211785 ADCY6,ANP32D,ARF3,C12orf54,CACNB3,CCDC65,CCNT1,DDN,DDX23,DHH,FKBP11,H1FNT,KANSL2,LALBA,LMBR1L,LOC255411,MIR1291,MIR4701,MLL2,OR8S1,PRKAG1,RHEBL1,RND1,SNORA2A,SNORA2B,SNORA34,TUBA1A,TUBA1B,WNT1,WNT10B,ZNF641 chr12 48652887 48657189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48652887 48657189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24866062 24866165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48669214 48705493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48669214 48705493 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48669214 48705493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48696927 48697027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 48737753 48763661 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZNF641 chr12 48737754 48763656 Gain and loss Pancreatic cancer SNP array 17952125 ZNF641 chr12 48737754 48763660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF641 chr12 48737754 48763660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF641 chr12 48764720 48764812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 48765250 48780762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48765250 48780762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48765279 48780692 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48784068 48791358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48784068 48791358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48784068 48791360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48792167 48800501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48792167 48800501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48792167 48800501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48793001 49032000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANP32D,C12orf54,LALBA,OR8S1 chr1 248795014 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 2488001 2506500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100133445,TNFRSF14 chr12 48809849 48847389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48809875 48847412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48809875 48847412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24882824 24902530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCMAP chr12 48829001 49866300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCY6,ANP32D,ARF3,C12orf54,C1QL4,CACNB3,CCDC65,CCNT1,DDN,DDX23,DHH,DNAJC22,FKBP11,KANSL2,LALBA,LMBR1L,LOC100335030,LOC255411,MIR1291,MIR4701,MLL2,OR8S1,PRKAG1,PRPH,RHEBL1,RND1,SNORA2A,SNORA2B,SNORA34,SPATS2,TROAP,TUBA1A,TUBA1B,TUBA1C,WNT1,WNT10B chr12 48851475 48851567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 248855617 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 48855840 48963539 Gain and loss Pancreatic cancer SNP array 17952125 ANP32D,C12orf54,LALBA,OR8S1 chr12 48855840 48963557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANP32D,C12orf54,LALBA,OR8S1 chr12 48855840 48963557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANP32D,C12orf54,LALBA,OR8S1 chr12 4889334 4897683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 4889334 4897683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4889334 4897683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 4890806 4892293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48914192 48914262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48936288 48936394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48936290 48936394 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 48945902 48993540 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LALBA chr12 48957137 49002201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LALBA chr12 48964716 48964812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48970244 48970340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48971011 48971107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48975184 48975280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 24897941 24941934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCMAP chr12 48981844 48981940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48983837 48983936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48984692 48984797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48992379 48992484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48992697 48992793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48994065 48994161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48994505 49050978 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KANSL2,MIR1291,SNORA2A,SNORA34 chr12 48996273 48996367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48996920 48997016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 48997729 48997825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 490044 492400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KDM5A chr1 24901021 26202341 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AUNIP,C1orf63,CLIC4,FAM54B,LDLRAP1,LOC646471,MAN1C1,NCMAP,PAQR7,RHCE,RHD,RUNX3,SEPN1,SRRM1,SYF2,TMEM50A,TMEM57 chr12 49010521 49014037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 49010619 49011835 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 49032001 49033500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 249073708 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 49080917 49160046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY6,CCNT1,LOC255411 chr12 49080917 49160046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY6,CCNT1,LOC255411 chr12 49080958 49160055 Gain and loss Pancreatic cancer SNP array 17952125 ADCY6,CCNT1,LOC255411 chr12 49145436 49145510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC255411 chr12 49152053 49152153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC255411 chr12 49168543 49168616 Gain and loss Pancreatic cancer SNP array 17952125 ADCY6 chr12 49168543 49168616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY6 chr12 49185035 49360309 Gain and loss Pancreatic cancer SNP array 17952125 ARF3,CACNB3,CCDC65,DDX23,FKBP11,RND1,WNT10B chr12 49185035 49428717 Copy number Autism exome sequencing 22495311 ARF3,CACNB3,CCDC65,DDN,DDX23,FKBP11,MLL2,PRKAG1,RND1,WNT1,WNT10B chr12 49185035 49428717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARF3,CACNB3,CCDC65,DDN,DDX23,FKBP11,MLL2,PRKAG1,RND1,WNT1,WNT10B chr12 49185035 49428717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARF3,CACNB3,CCDC65,DDN,DDX23,FKBP11,MLL2,PRKAG1,RND1,WNT1,WNT10B chr1 249200335 247249719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr12 49204960 49205060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 49221576 49669610 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARF3,CACNB3,CCDC65,DDN,DDX23,DHH,FKBP11,LMBR1L,MLL2,PRKAG1,RHEBL1,RND1,TUBA1A,TUBA1B,TUBA1C,WNT1,WNT10B chr12 49231897 49684301 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARF3,CCDC65,DDN,DDX23,DHH,FKBP11,LMBR1L,MLL2,PRKAG1,RHEBL1,RND1,TUBA1A,TUBA1B,TUBA1C,WNT1,WNT10B chr12 49259978 49261772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 49294626 49778776 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARF3,C1QL4,CCDC65,DDN,DHH,DNAJC22,FKBP11,LMBR1L,MLL2,PRKAG1,PRPH,RHEBL1,SPATS2,TROAP,TUBA1A,TUBA1B,TUBA1C,WNT1,WNT10B chr12 49313323 49313426 Gain and loss Pancreatic cancer SNP array 17952125 CCDC65 chr12 49313323 49313426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC65 chr1 2493214 2493765 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF14 chr12 49330598 49330698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARF3 chr12 49337023 49337122 Gain and loss Pancreatic cancer SNP array 17952125 ARF3 chr12 49337023 49337124 Gain and loss Pancreatic cancer SNP array 17952125 ARF3 chr12 49337023 49337128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARF3 chr12 49363212 49428715 Gain and loss Pancreatic cancer SNP array 17952125 DDN,MLL2,PRKAG1,WNT1,WNT10B chr12 49370026 49370126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 49370026 49370135 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 49392270 49392353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDN chr12 49423618 49423731 Gain and loss Pancreatic cancer SNP array 17952125 MLL2 chr12 49423618 49423732 Gain and loss Pancreatic cancer SNP array 17952125 MLL2 chr12 49423618 49423734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLL2 chr12 49428085 49428162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLL2 chr1 24943712 26054939 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-266K arrays 21546498 C1orf63,CLIC4,LDLRAP1,MAN1C1,RHCE,RHD,RUNX3,SRRM1,SYF2,TMEM50A,TMEM57 chr12 49438065 49471478 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MLL2,RHEBL1 chr12 49443501 49445000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MLL2 chr12 49444085 49501174 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DHH,LMBR1L,MLL2,RHEBL1 chr12 49444086 49501174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHH,LMBR1L,MLL2,RHEBL1 chr12 49444086 49501174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHH,LMBR1L,MLL2,RHEBL1 chr12 49444128 49500327 Gain and loss Pancreatic cancer SNP array 17952125 DHH,LMBR1L,MLL2,RHEBL1 chr12 49444341 49500272 Amplification or deletion Cancer Array CGH 17440070 DHH,LMBR1L,MLL2,RHEBL1 chr1 24944435 25043345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM1 chr1 24944435 25043345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM1 chr12 49502991 49504604 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LMBR1L chr12 4950601 4955200 Deletion Glioma mate-paired sequence 20126413 KCNA6 chr12 49521548 49521807 Gain and loss Pancreatic cancer SNP array 17952125 TUBA1B chr12 49521548 49521807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBA1B chr12 49523015 49567928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBA1B chr12 49523015 49567928 Gain and loss Pancreatic cancer SNP array 17952125 TUBA1B chr12 49523015 49567928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBA1B chr12 49600721 49601110 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr12 49604801 49612567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 49604801 49612567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 49605033 49612550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 49619977 49620076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 49619979 49620076 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 49619980 49620076 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 24962611 24962711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 4963237 4963321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 49634049 49641193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 49634049 49650556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 49659585 49706409 Gain and loss Pancreatic cancer SNP array 17952125 PRPH,TUBA1C chr12 49661776 49708275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPH,TUBA1C chr12 49661776 49708275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPH,TUBA1C chr12 49694184 49694291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 49694187 49694291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 24971364 25036918 Gain and loss Pancreatic cancer SNP array 17952125 SRRM1 chr1 24971364 25036918 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 SRRM1 chr12 49717549 49717652 Gain and loss Pancreatic cancer SNP array 17952125 TROAP chr12 49717549 49717652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TROAP chr12 49717549 49717655 Gain and loss Pancreatic cancer SNP array 17952125 TROAP chr12 49728351 49740474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QL4 chr12 49728351 49740474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QL4 chr12 49728368 49740468 Gain and loss Pancreatic cancer SNP array 17952125 C1QL4 chr12 49734796 49734848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 49739904 49875453 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNAJC22,LOC100335030,SPATS2 chr12 49741257 49763600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC22,SPATS2 chr12 49741257 49763600 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC22,SPATS2 chr12 49741257 49763600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC22,SPATS2 chr12 49749401 49749806 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 49757419 49874881 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100335030,SPATS2 chr12 49774889 49852931 Gain and loss Pancreatic cancer SNP array 17952125 LOC100335030,SPATS2 chr12 49774891 49852931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100335030,SPATS2 chr12 49774891 49852931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100335030,SPATS2 chr12 49783262 49783362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100335030,SPATS2 chr12 4978409 4978509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 49793477 49827966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPATS2 chr12 498351 546804 Gain small cell lung cancer Real-time Quantitative PCR 17426248 CCDC77,KDM5A chr12 49836918 49837027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATS2 chr12 49836919 49837027 Gain and loss Pancreatic cancer SNP array 17952125 SPATS2 chr12 49836920 49837027 Gain and loss Pancreatic cancer SNP array 17952125 SPATS2 chr12 49842951 49843057 Gain and loss Pancreatic cancer SNP array 17952125 SPATS2 chr12 49842951 49843057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATS2 chr12 49842952 49843056 Gain and loss Pancreatic cancer SNP array 17952125 SPATS2 chr12 49854520 49854614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATS2 chr12 49866301 50726500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AQP2,AQP5,AQP6,ASIC1,BCDIN3D,BCDIN3D-AS1,CERS5,COX14,FAIM2,FAM186A,FAM186B,FMNL3,GPD1,KCNH3,LIMA1,LOC283332,MCRS1,MIR1293,NCKAP5L,PRPF40B,RACGAP1,SMARCD1,SPATS2,TMBIM6 chr12 49866986 49897744 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SPATS2 chr12 49869232 49897744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATS2 chr12 49869232 49897744 Gain and loss Pancreatic cancer SNP array 17952125 SPATS2 chr12 49869232 49897744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATS2 chr12 49877094 49877285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPATS2 chr12 49896307 49930454 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPATS2 chr12 49918877 49923833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATS2 chr12 49918877 49923833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATS2 chr12 49918877 49923835 Gain and loss Pancreatic cancer SNP array 17952125 SPATS2 chr12 49918892 49923834 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SPATS2 chr12 49924612 49950941 Gain and loss Pancreatic cancer SNP array 17952125 KCNH3 chr12 49925399 49950469 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KCNH3 chr12 49925400 49950473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH3 chr12 49925400 49950473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH3 chr12 49931610 49931666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 49961088 50004205 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM186B,MCRS1 chr12 49961090 50004215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM186B,MCRS1 chr12 49961090 50004215 Gain and loss Pancreatic cancer SNP array 17952125 FAM186B,MCRS1 chr12 49961090 50004215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM186B,MCRS1 chr12 49967 52715434 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ABCD2,ACRBP,ACSM4,ACVR1B,ACVRL1,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,ALG10B,AMIGO2,AMN1,ANKRD33,ANO2,ANO6,ANP32D,APOBEC1,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGDIB,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF1,ATF7IP,ATN1,B4GALNT3,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BHLHE41,BICD1,BIN2,C12orf36,C12orf39,C12orf4,C12orf40,C12orf44,C12orf5,C12orf54,C12orf57,C12orf60,C12orf68,C12orf69,C12orf70,C12orf71,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CAPRIN2,CAPZA3,CASC1,CCDC65,CCDC77,CCDC91,CCND2,CCNT1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CELA1,CERS5,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,CNTN1,COL2A1,COPS7A,COX14,CPNE8,CREBL2,CSDA,CSRNP2,DAZAP2,DBX2,DCP1B,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DENND5B,DENND5B-AS1,DERA,DHH,DIP2B,DNAJC22,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENDOU,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAIM2,FAM138D,FAM186A,FAM186B,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FIGNL2,FKBP11,FKBP4,FLJ13224,FMNL3,FOXJ2,FOXM1,GABARAPL1,GALNT6,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPD1,GPR162,GPR19,GPRC5A,GPRC5D,GRASP,GRIN2B,GSG1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HDAC7,HEBP1,HIGD1C,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,IRAK4,ITFG2,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNH3,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KIF21A,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,KRT7,KRT80,KRT81,KRT83,KRT86,LAG3,LALBA,LARP4,LDHB,LEPREL2,LETMD1,LIMA1,LINC00477,LINC00592,LINC00612,LMBR1L,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC255411,LOC283332,LOC283403,LOC283440,LOC338817,LOC374443,LOC389634,LOC400027,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRRK2,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MCRS1,MED21,METTL20,METTL7A,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR1291,MIR1293,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR4698,MIR4701,MIR613,MIR614,MIR920,MLF2,MLL2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NCKAP5L,NDUFA9,NECAP1,NELL2,NINJ2,NOP2,NR4A1,NRIP2,NTF3,OLR1,OR10AD1,OR8S1,OVCH1,PARP11,PCED1B,PCED1B-AS1,PDE3A,PDE6H,PDZRN4,PEX5,PFKM,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,POU5F1P3,POU6F1,PPFIBP1,PPHLN1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PUS7L,PYROXD1,PZP,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAPGEF3,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHEBL1,RHNO1,RIMKLB,RND1,RNU6-19,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL13P5,SCAF11,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SENP1,SKP1P2,SLC11A2,SLC15A5,SLC2A13,SLC2A14,SLC2A3,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCD1,SNORA2A,SNORA2B,SNORA34,SOX5,SPATS2,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TFCP2,TM7SF3,TMBIM6,TMEM106C,TMEM117,TMEM52B,TMPRSS12,TMTC1,TNFRSF1A,TPI1,TROAP,TSPAN11,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,USP5,VAMP1,VDR,VWF,WBP11,WNK1,WNT1,WNT10B,WNT5B,YAF2,YARS2,ZCRB1,ZNF384,ZNF641,ZNF705A chr12 49967 6449967 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ADIPOR2,AKAP3,ANO2,B4GALNT3,C12orf4,C12orf5,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD9,DCP1B,DYRK4,EFCAB4B,ERC1,FAM138D,FBXL14,FGF23,FGF6,FKBP4,FOXM1,GALNT8,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NDUFA9,NINJ2,NRIP2,NTF3,PARP11,PLEKHG6,PRMT8,RAD51AP1,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TNFRSF1A,TSPAN9,TULP3,VWF,WNK1,WNT5B chr12 49978482 49978555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM186B chr12 49997630 49997730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM186B chr12 50000 9650000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,ATN1,B4GALNT3,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD9,CDCA3,CHD4,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLSTN3,COPS7A,DCP1B,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KLRG1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100507424,LOC283440,LOC389634,LOC574538,LOC642846,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRMT8,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,TAPBPL,TEAD4,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 50008494 50026730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPF40B chr12 50008494 50026730 Gain and loss Pancreatic cancer SNP array 17952125 PRPF40B chr12 50008494 50026730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF40B chr12 50019638 50019738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRPF40B chr12 50032099 50071467 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FMNL3,PRPF40B chr12 50032100 50071467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMNL3,PRPF40B chr12 50032100 50071467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMNL3,PRPF40B chr12 50033954 50071464 Gain and loss Pancreatic cancer SNP array 17952125 FMNL3,PRPF40B chr12 50071399 50177913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMNL3,TMBIM6 chr12 50071399 50177913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMNL3,TMBIM6 chr12 50071399 50177915 Gain and loss Pancreatic cancer SNP array 17952125 FMNL3,TMBIM6 chr12 50083157 50083208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FMNL3 chr12 50104860 50189247 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NCKAP5L,TMBIM6 chr12 5011976 5012368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 50173126 50173226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 50186552 50186603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5L chr12 50188043 50214863 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCKAP5L chr12 50190832 50195814 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP5L chr12 50200322 51702518 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AQP2,AQP5,AQP6,ASIC1,ATF1,BCDIN3D,BCDIN3D-AS1,BIN2,CERS5,COX14,CSRNP2,DAZAP2,DIP2B,FAIM2,FAM186A,GPD1,HIGD1C,LARP4,LETMD1,LIMA1,LOC283332,METTL7A,MIR1293,NCKAP5L,POU6F1,RACGAP1,SLC11A2,SMAGP,SMARCD1,TFCP2,TMPRSS12 chr12 50219186 50219281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5L chr12 5023346 5026210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNA1 chr12 5023346 5026210 Gain and loss Pancreatic cancer SNP array 17952125 KCNA1 chr12 5023346 5026210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNA1 chr12 5023385 5025470 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNA1 chr12 50271286 50488566 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AQP2,AQP5,AQP6,ASIC1,FAIM2,LOC283332,RACGAP1,SMARCD1 chr1 25029301 25036000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 25031275 25034096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 25033874 25034051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 50352992 50353142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 50364210 50488564 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AQP6,ASIC1,RACGAP1,SMARCD1 chr12 50364210 50488564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AQP6,ASIC1,RACGAP1,SMARCD1 chr12 50364210 50488564 Gain and loss Pancreatic cancer SNP array 17952125 AQP6,ASIC1,RACGAP1,SMARCD1 chr12 50364210 50488564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AQP6,ASIC1,RACGAP1,SMARCD1 chr1 25040227 25040336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 50406530 50461559 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC1,RACGAP1 chr12 50434904 51484395 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASIC1,ATF1,CERS5,COX14,CSRNP2,DIP2B,FAM186A,GPD1,HIGD1C,LARP4,LETMD1,LIMA1,METTL7A,MIR1293,SLC11A2,SMARCD1,TMPRSS12 chr12 50435143 50435242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 50446 11862890 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,ADIPOR2,AICDA,AKAP3,ANO2,APOBEC1,ATN1,B4GALNT3,C12orf4,C12orf5,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CSDA,DCP1B,DDX12P,DPPA3,DSTNP2,DYRK4,EFCAB4B,EMG1,ENO2,ERC1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KDM5A,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LPAR5,LPCAT3,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PZP,RAD51AP1,RAD52,RBP5,RHNO1,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WNK1,WNT5B,ZNF384,ZNF705A chr12 50446 132349534 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,AACS,ABCB9,ABCC9,ABCD2,ACACB,ACAD10,ACADS,ACRBP,ACSM4,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALDH1L2,ALDH2,ALG10,ALG10B,ALKBH2,ALX1,AMDHD1,AMHR2,AMIGO2,AMN1,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO2,ANO4,ANO6,ANP32D,APAF1,APOBEC1,APOF,APOLD1,APPL2,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARL1,ARL6IP4,ARNTL2,ARPC3,ART4,ASB8,ASCL1,ASCL4,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,B4GALNT3,BAZ2A,BBS10,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BCL7A,BEST3,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf36,C12orf39,C12orf4,C12orf40,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf5,C12orf50,C12orf52,C12orf54,C12orf56,C12orf57,C12orf60,C12orf61,C12orf65,C12orf66,C12orf68,C12orf69,C12orf70,C12orf71,C12orf73,C12orf74,C12orf75,C12orf76,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CABP1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAMKK2,CAND1,CAPRIN2,CAPS2,CAPZA3,CASC1,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC65,CCDC77,CCDC91,CCDC92,CCER1,CCND2,CCNT1,CCT2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK17,CDK2,CDK2AP1,CDK4,CDKN1B,CELA1,CEP290,CERS5,CHD4,CHPT1,CHST11,CIT,CKAP4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLIP1,CLLU1,CLLU1OS,CLSTN3,CMAS,CMKLR1,CNOT2,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COQ5,CORO1C,COX14,COX6A1,CPM,CPNE8,CPSF6,CRADD,CREBL2,CRY1,CS,CSAD,CSDA,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DBX2,DCD,DCN,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DDX54,DDX55,DENND5B,DENND5B-AS1,DENR,DEPDC4,DERA,DGKA,DHH,DHX37,DIABLO,DIP2B,DNAH10,DNAJC14,DNAJC22,DNM1L,DPPA3,DPY19L2,DRAM1,DSTNP2,DTX1,DTX3,DUSP16,DUSP6,DYNLL1,DYRK2,DYRK4,E2F7,EEA1,EFCAB4B,EID3,EIF2B1,EIF4B,ELK3,EMG1,EMP1,ENDOU,ENO2,EPS8,EPYC,ERBB3,ERC1,ERGIC2,ERP27,ERP29,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM101A,FAM109A,FAM138D,FAM186A,FAM186B,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM60A,FAM66C,FAM71C,FAM86FP,FAM90A1,FAR2,FBXL14,FBXO21,FBXW8,FGD4,FGD6,FGF23,FGF6,FGFR1OP2,FICD,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FLJ31485,FLJ37505,FLJ41278,FMNL3,FOXJ2,FOXM1,FOXN4,FRS2,FZD10,GABARAPL1,GALNT4,GALNT6,GALNT8,GAPDH,GAS2L3,GATC,GCN1L1,GDF11,GDF3,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNB3,GNN,GNPTAB,GNS,GOLGA2P5,GOLT1B,GPD1,GPN3,GPR133,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GRIP1,GSG1,GTF2H3,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HDAC7,HEBP1,HECTD4,HELB,HIGD1C,HIP1R,HIST4H4,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HTR7P1,HVCN1,IAPP,IFFO1,IFLTD1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,ING4,INHBC,INHBE,IPO8,IQCD,IQSEC3,IRAK3,IRAK4,ISCU,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNC2,KCNH3,KCNJ8,KCNMB4,KCTD10,KDM2B,KDM5A,KERA,KIAA0528,KIAA1033,KIAA1467,KIAA1551,KIF21A,KIF5A,KITLG,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KNTC1,KRAS,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LAG3,LALBA,LARP4,LDHB,LEMD3,LEPREL2,LETMD1,LGR5,LHX5,LIMA1,LIN7A,LINC00173,LINC00477,LINC00485,LINC00507,LINC00592,LINC00612,LINC00615,LLPH,LMBR1L,LMO3,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100287944,LOC100288778,LOC100292680,LOC100335030,LOC100499405,LOC100505978,LOC100506314,LOC100506393,LOC100506451,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100507424,LOC100652999,LOC101055625,LOC116437,LOC144486,LOC144742,LOC255411,LOC256021,LOC283332,LOC283335,LOC283403,LOC283440,LOC338758,LOC338799,LOC338817,LOC374443,LOC387895,LOC389634,LOC400027,LOC400043,LOC400084,LOC440117,LOC574538,LOC642846,LOC643339,LOC643770,LOC728084,LOC728739,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC10,LRRC23,LRRC43,LRRIQ1,LRRK2,LRTM2,LTA4H,LTBR,LUM,LYRM5,LYZ,M6PR,MAGOHB,MANSC1,MANSC4,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MCRS1,MDM1,MDM2,MED13L,MED21,METAP2,METTL1,METTL20,METTL21B,METTL25,METTL7A,METTL7B,MFAP5,MFSD5,MGAT4C,MGP,MGST1,MIP,MIR1178,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1251,MIR1252,MIR1279,MIR1291,MIR1293,MIR135A2,MIR141,MIR148B,MIR1827,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3649,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR3974,MIR4302,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4698,MIR4699,MIR4700,MIR4701,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR613,MIR614,MIR615,MIR617,MIR618,MIR620,MIR920,MIRLET7I,MKRN9P,MLEC,MLF2,MLL2,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRPL51,MRPS35,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NANOG,NANOGNB,NAP1L1,NAV3,NCAPD2,NCKAP1L,NCKAP5L,NCOR2,NDUFA12,NDUFA4L2,NDUFA9,NECAP1,NEDD1,NELL2,NEUROD4,NFE2,NFYB,NINJ2,NOP2,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NRIP2,NT5DC3,NTF3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,OVCH1,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARP11,PARPBP,PAWR,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEBP1,PEX5,PFDN5,PFKM,PHB2,PHC1,PHLDA1,PIANP,PIK3C2G,PIP4K2C,PITPNM2,PIWIL1,PKP2,PLA2G1B,PLBD1,PLBD2,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU5F1P3,POU6F1,PPFIA2,PPFIBP1,PPHLN1,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRB1,PRB2,PRB3,PRB4,PRDM4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAB1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PSMD9,PTGES3,PTHLH,PTMS,PTPN11,PTPN6,PTPRB,PTPRO,PTPRQ,PTPRR,PUS7L,PWP1,PXN,PXN-AS1,PYROXD1,PZP,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAD9B,RAN,RAP1B,RAPGEF3,RARG,RASAL1,RASSF3,RASSF8,RASSF9,RBM19,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RFC5,RFX4,RHEBL1,RHNO1,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RIMKLB,RMST,RND1,RNF10,RNF34,RNF41,RNFT2,RNU6-19,RNU6-78,RNY5,RPAP3,RPH3A,RPL13AP20,RPL13P5,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCAF11,SCARB1,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SENP1,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SKP1P2,SLC11A2,SLC15A4,SLC15A5,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC35E3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC41A2,SLC48A1,SLC4A8,SLC5A8,SLC6A12,SLC6A13,SLC6A15,SLC9A7P1,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SOX5,SP1,SP7,SPATS2,SPIC,SPPL3,SPRYD3,SPRYD4,SPSB2,SRGAP1,SRRM4,SRSF9,SSH1,SSPN,ST8SIA1,STAB2,STAC3,STAT2,STAT6,STK38L,STRAP,STX2,STYK1,SUDS3,SUOX,SVOP,SYCP3,SYT1,SYT10,TAC3,TAOK3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TEAD4,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TM7SF3,TMBIM4,TMBIM6,TMCC3,TMED2,TMEM106C,TMEM116,TMEM117,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMEM52B,TMPO,TMPO-AS1,TMPRSS12,TMTC1,TMTC2,TMTC3,TNFRSF1A,TPCN1,TPH2,TPI1,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TROAP,TRPV4,TSFM,TSPAN11,TSPAN19,TSPAN31,TSPAN8,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,USP5,UTP20,VAMP1,VDR,VEZT,VPS29,VPS33A,VPS37B,VSIG10,VWF,WBP11,WDR66,WIBG,WIF1,WNK1,WNT1,WNT10B,WNT5B,WSB2,WSCD2,XPOT,XRCC6BP1,YAF2,YARS2,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZCRB1,ZDHHC17,ZFC3H1,ZNF384,ZNF385A,ZNF641,ZNF664,ZNF664-FAM101A,ZNF705A,ZNF740 chr12 50446 2045912 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADIPOR2,B4GALNT3,CACNA2D4,CCDC77,ERC1,FAM138D,FBXL14,IQSEC3,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC574538,LRTM2,MIR3649,NINJ2,RAD52,SLC6A12,SLC6A13,WNK1,WNT5B chr12 50446 24681370 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ART4,ATF7IP,ATN1,B4GALNT3,BCL2L14,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETNK1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,ING4,IQSEC3,ITFG2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LDHB,LEPREL2,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LRTM2,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR613,MIR614,MIR920,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RBP5,RECQL,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,ST8SIA1,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 50446 2539893 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,ERC1,FAM138D,FBXL14,IQSEC3,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC574538,LRTM2,MIR3649,NINJ2,RAD52,SLC6A12,SLC6A13,WNK1,WNT5B chr12 50446 28043915 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPZA3,CASC1,CCDC77,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERP27,ETNK1,ETV6,FAM138D,FAM66C,FAM86FP,FAM90A1,FBXL14,FGF23,FGF6,FGFR1OP2,FKBP4,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TNFRSF1A,TPI1,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,ZNF384,ZNF705A chr12 50446 36215633 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,ADIPOR2,AEBP2,AICDA,AKAP3,ALG10,AMN1,ANO2,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,B4GALNT3,BCAT1,BCL2L14,BHLHE41,BICD1,C12orf36,C12orf39,C12orf4,C12orf5,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CAPRIN2,CAPZA3,CASC1,CCDC77,CCDC91,CCND2,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DCP1B,DDX11,DDX11-AS1,DDX12P,DDX47,DENND5B,DENND5B-AS1,DERA,DNM1L,DPPA3,DSTNP2,DUSP16,DYRK4,EFCAB4B,EMG1,EMP1,ENO2,EPS8,ERC1,ERGIC2,ERP27,ETNK1,ETV6,FAM138D,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FKBP4,FLJ13224,FOXJ2,FOXM1,GABARAPL1,GALNT8,GAPDH,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,H3F3C,HEBP1,HIST4H4,HTR7P1,IAPP,IFFO1,IFLTD1,ING4,IPO8,IQSEC3,ITFG2,ITPR2,KCNA1,KCNA5,KCNA6,KCNJ8,KDM5A,KIAA0528,KIAA1467,KIAA1551,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100271702,LOC100287314,LOC100288778,LOC100292680,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100507424,LOC101055625,LOC283440,LOC338817,LOC374443,LOC389634,LOC574538,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,METTL20,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3649,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NDUFA9,NECAP1,NINJ2,NOP2,NRIP2,NTF3,OLR1,OVCH1,PARP11,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHG6,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRMT8,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RAD51AP1,RAD52,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHNO1,RIMKLB,RNU6-19,RNU6-78,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLC6A12,SLC6A13,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TM7SF3,TMEM52B,TMTC1,TNFRSF1A,TPI1,TSPAN11,TSPAN9,TULP3,USP5,VAMP1,VWF,WBP11,WNK1,WNT5B,YARS2,ZNF384,ZNF705A chr12 50446737 50446837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 50452742 50581408 Amplification Normal Arbitrated Peel-off 21527027 ASIC1,CERS5,COX14,GPD1,LIMA1,SMARCD1 chr12 50452742 50581408 Amplification Normal Standard peel-off 21527027 ASIC1,CERS5,COX14,GPD1,LIMA1,SMARCD1 chr12 50461726 50473400 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASIC1 chr12 50488291 50598555 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 CERS5,COX14,GPD1,LIMA1,SMARCD1 chr12 50490056 50492903 Gain and loss Pancreatic cancer SNP array 17952125 SMARCD1 chr12 50493001 50606500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CERS5,COX14,GPD1,LIMA1,SMARCD1 chr12 50493755 51600159 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ATF1,CERS5,COX14,CSRNP2,DIP2B,FAM186A,GPD1,HIGD1C,LARP4,LETMD1,LIMA1,METTL7A,MIR1293,POU6F1,SLC11A2,SMARCD1,TFCP2,TMPRSS12 chr12 5049873 5049951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 50499832 50502482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPD1 chr12 50511140 53289666 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ACVR1B,ACVRL1,ANKRD33,ATF1,BIN2,C12orf44,CELA1,CERS5,COX14,CSRNP2,DAZAP2,DIP2B,FAM186A,FIGNL2,GALNT6,GRASP,HIGD1C,KRT1,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LARP4,LETMD1,LIMA1,LINC00592,LOC283403,METTL7A,MIR1293,NR4A1,POU6F1,SCN8A,SLC11A2,SLC4A8,SMAGP,TFCP2,TMPRSS12 chr12 50568011 50571706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIMA1 chr12 50568011 50571706 Gain and loss Pancreatic cancer SNP array 17952125 LIMA1 chr12 50568011 50571706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMA1 chr12 5057671 5057753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 50580589 50581389 Gain and loss Pancreatic cancer SNP array 17952125 LIMA1 chr12 50587468 50603412 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 LIMA1 chr12 50587469 50601120 Gain and loss Pancreatic cancer SNP array 17952125 LIMA1 chr12 50587469 50603412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIMA1 chr12 50587469 50603412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMA1 chr12 50592379 50603412 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LIMA1 chr12 50593228 50624380 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIMA1 chr1 25059501 25303000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLIC4,RUNX3 chr12 50610941 50627869 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIMA1 chr12 50613220 50613280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIMA1 chr12 50631752 50677127 Gain or loss Breast cancer - 20668451 LIMA1 chr12 50631752 50677127 Gain or loss Cancer - 20668451 LIMA1 chr12 50631752 50677127 Gain or loss Lung cancer - 20668451 LIMA1 chr12 50631752 50677127 Gain or loss Ovarian cancer - 20668451 LIMA1 chr12 50631752 50677127 Gain or loss Pancreas cancer - 20668451 LIMA1 chr12 50631752 50677127 Gain or loss Prostate cancer - 20668451 LIMA1 chr12 50631753 50677124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIMA1 chr12 50631753 50677124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMA1 chr12 50631753 50677126 Gain and loss Pancreatic cancer SNP array 17952125 LIMA1 chr12 50641025 50641157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIMA1 chr1 2506501 2518500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM213B chr12 50667708 50667814 Gain and loss Pancreatic cancer SNP array 17952125 LIMA1 chr12 50667708 50667814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMA1 chr12 50673501 50675000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIMA1 chr12 50673624 51010214 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 DIP2B,FAM186A,LARP4,LIMA1 chr12 50679501 50683500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 50683001 50897500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM186A,LARP4 chr12 50686991 50695915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 50686991 50695915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 50687015 50695938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 50691427 50691527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 50717766 50739552 Gain and loss Pancreatic cancer SNP array 17952125 FAM186A chr12 50718761 50739558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM186A chr12 50718761 50739558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM186A chr12 50726501 51485500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATF1,CSRNP2,DIP2B,FAM186A,HIGD1C,LARP4,LETMD1,METTL7A,SLC11A2,TMPRSS12 chr12 50731457 50739554 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM186A chr1 25074409 25076222 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLIC4 chr12 50750024 50757546 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM186A chr12 50750025 50757545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM186A chr12 50750025 50757545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM186A chr12 50750027 50757545 Gain and loss Pancreatic cancer SNP array 17952125 FAM186A chr12 50774680 50809154 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM186A,LARP4 chr12 50787368 50788137 Gain and loss Pancreatic cancer SNP array 17952125 FAM186A chr12 50787383 50788293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM186A chr12 50787627 50815099 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM186A,LARP4 chr1 2508097 2512762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2508097 2512766 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 50849047 50872051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARP4 chr12 50849047 50872051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARP4 chr12 50849048 50865749 Gain and loss Pancreatic cancer SNP array 17952125 LARP4 chr12 50849531 51055601 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DIP2B,LARP4 chr12 50854077 50854177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARP4 chr12 50854508 60354508 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 AAAS,ACVR1B,ACVRL1,AGAP2,AMHR2,ANKRD33,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATF1,ATF7,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,CALCOCO1,CBX5,CD63,CDK2,CDK4,CELA1,CNPY2,COPZ1,COQ10A,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DCD,DCTN2,DDIT3,DGKA,DIP2B,DNAJC14,DTX3,EIF4B,ERBB3,ESPL1,ESYT1,FIGNL2,FLJ12825,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPR182,GPR84,GRASP,GTSF1,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LARP4,LETMD1,LINC00592,LOC100130776,LOC100240734,LOC100240735,LOC100506844,LOC100652999,LOC283335,LOC283403,LOC400043,LRIG3,LRP1,MAP3K12,MARCH9,MARS,MBD6,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR615,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NDUFA4L2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PDE1B,PFDN5,PIP4K2C,PMEL,POU6F1,PPP1R1A,PRIM1,PRR13,PTGES3,R3HDM2,RAB5B,RARG,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SCN8A,SDR9C7,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC39A5,SLC4A8,SMAGP,SMARCC2,SMUG1,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMEM194A,TMEM198B,TMPRSS12,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A,ZNF740 chr12 50855000 60455000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 AAAS,ACVR1B,ACVRL1,AGAP2,AMHR2,ANKRD33,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATF1,ATF7,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,CALCOCO1,CBX5,CD63,CDK2,CDK4,CELA1,CNPY2,COPZ1,COQ10A,CS,CSAD,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DCD,DCTN2,DDIT3,DGKA,DIP2B,DNAJC14,DTX3,EIF4B,ERBB3,ESPL1,ESYT1,FIGNL2,FLJ12825,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPR182,GPR84,GRASP,GTSF1,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LARP4,LETMD1,LINC00592,LOC100130776,LOC100240734,LOC100240735,LOC100506844,LOC100652999,LOC283335,LOC283403,LOC400043,LRIG3,LRP1,MAP3K12,MARCH9,MARS,MBD6,METTL1,METTL21B,METTL7A,METTL7B,MFSD5,MIP,MIR1228,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR615,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NDUFA4L2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PDE1B,PFDN5,PIP4K2C,PMEL,POU6F1,PPP1R1A,PRIM1,PRR13,PTGES3,R3HDM2,RAB5B,RARG,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SCN8A,SDR9C7,SHMT2,SLC11A2,SLC16A7,SLC26A10,SLC39A5,SLC4A8,SMAGP,SMARCC2,SMUG1,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMEM194A,TMEM198B,TMPRSS12,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A,ZNF740 chr1 25088284 25088384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLIC4 chr12 50899840 50899936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2B chr12 50909001 51588000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATF1,CSRNP2,DIP2B,HIGD1C,LETMD1,METTL7A,POU6F1,SLC11A2,TFCP2,TMPRSS12 chr12 50913221 50928976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 50913221 50928976 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 50913221 50928976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 50919644 50919714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2B chr12 5092084 5093714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 5092147 5093882 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 50932079 50938438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 50932309 50938349 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 50962792 50962886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2B chr12 50965167 51002143 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DIP2B chr12 50965966 50971566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 50965966 50971566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 50979074 50979154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2B chr12 50981916 50989212 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 50981916 50989214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 50981916 50989214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr1 25098589 25164088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLIC4 chr1 25098589 25164088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLIC4 chr12 50994352 51001438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 50994352 51001438 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 50994352 51001438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51008993 51009058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2B chr12 5101075 5101144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 51040057 51047576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51040057 51047576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51040059 51047576 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 51057299 51065684 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 51057863 51065684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51057863 51065684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 5106123 5264317 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 KCNA5 chr12 51074002 51086443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51074002 51086443 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 51074002 51086443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51081854 51093628 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DIP2B chr12 51099169 51099269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIP2B chr12 51104121 51114373 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 51104121 51114377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51104121 51114377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51126704 51132177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51126704 51132177 Gain and loss Pancreatic cancer SNP array 17952125 DIP2B chr12 51126704 51132177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIP2B chr12 51148574 51153836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51148574 51153836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51148575 51153838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 51156450 132349534 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-762K arrays 21546498 AAAS,AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ACVR1B,ACVRL1,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,AMHR2,ANAPC5,ANAPC7,ANKRD13A,ANKRD33,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATF1,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BIN2,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf42,C12orf43,C12orf44,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CELA1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COPZ1,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSAD,CSRNP2,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DAZAP2,DCD,DCN,DCTN2,DDIT3,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FIGNL2,FLJ12825,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT6,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPN3,GPR133,GPR182,GPR84,GRASP,GRIP1,GTF2H3,GTSF1,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIGD1C,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,ITGA5,ITGA7,ITGB7,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT1,KRT18,KRT19P2,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,KSR2,LACRT,LEMD3,LETMD1,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00592,LINC00615,LLPH,LOC100128554,LOC100130776,LOC100131138,LOC100190940,LOC100240734,LOC100240735,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC116437,LOC144486,LOC144742,LOC256021,LOC283335,LOC283403,LOC338758,LOC338799,LOC387895,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7A,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NR4A1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PDE1B,PEBP1,PFDN5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,POU6F1,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRIM1,PRKAB1,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCN8A,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC11A2,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC4A8,SLC5A8,SLC6A15,SLC9A7P1,SMAGP,SMARCC2,SMUG1,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,TFCP2,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMPRSS12,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF385A,ZNF664,ZNF664-FAM101A,ZNF740 chr12 51167225 51173448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF1 chr12 51167225 51173448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF1 chr12 51171753 51199176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATF1 chr12 51180286 51213241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATF1 chr12 51190354 51199540 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ATF1 chr12 51190354 51199540 Copy number gain Normal High-resolution SNP genotyping 21211785 ATF1 chr1 2511941 2554289 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM213B,MMEL1 chr1 2511941 2554289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM213B,MMEL1 chr1 2511941 2554289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM213B,MMEL1 chr12 51194628 51200510 Gain and loss Pancreatic cancer SNP array 17952125 ATF1 chr12 51194630 51200510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF1 chr12 51194630 51200510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF1 chr12 51197804 51197804 Copy number Prostate cancer Illumina GA II sequencer 21307934 ATF1 chr12 51198620 51344781 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ATF1,METTL7A,TMPRSS12 chr12 512001 640500 Copy number Normal ReadDepth: A Parallel R Package 21305028 B4GALNT3,CCDC77 chr12 51210006 51244513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATF1,TMPRSS12 chr12 51223961 51233198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51223961 51233198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 51223961 51233198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51245870 51253876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS12 chr12 51245870 51253876 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS12 chr12 51245870 51253876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS12 chr12 51265640 51281559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS12 chr12 51265640 51281559 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS12 chr12 51265640 51281559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS12 chr12 51286895 52179115 LOH Normal High-resolution SNP genotyping 21211785 BIN2,CELA1,CSRNP2,DAZAP2,GALNT6,HIGD1C,LETMD1,METTL7A,POU6F1,SCN8A,SLC11A2,SLC4A8,SMAGP,TFCP2 chr12 51287622 51298610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51287622 51298610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 51287622 51298610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51289902 51295356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51324610 51332226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 METTL7A chr12 51324610 51332226 Gain and loss Pancreatic cancer SNP array 17952125 METTL7A chr12 51324610 51332226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL7A chr12 51330000 54790000 Gain Breast cancer aCGH 21509527 AAAS,ACVR1B,ACVRL1,AMHR2,ANKRD33,ATF7,ATP5G2,BIN2,C12orf10,C12orf44,CALCOCO1,CBX5,CELA1,COPZ1,CSAD,CSRNP2,DAZAP2,EIF4B,ESPL1,FIGNL2,FLJ12825,GALNT6,GPR84,GRASP,HIGD1C,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGB7,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LETMD1,LINC00592,LOC100240734,LOC100240735,LOC100652999,LOC283335,LOC283403,LOC400043,MAP3K12,MFSD5,MIR148B,MIR196A2,MIR3198-2,MIR615,NFE2,NPFF,NR4A1,PCBP2,PFDN5,POU6F1,PRR13,RARG,SCN8A,SLC11A2,SLC4A8,SMAGP,SMUG1,SOAT2,SP1,SP7,SPRYD3,TARBP2,TENC1,TFCP2,ZNF385A,ZNF740 chr12 51354726 51360446 Gain and loss Pancreatic cancer SNP array 17952125 HIGD1C chr12 51354787 51360458 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIGD1C chr12 51354787 51360458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIGD1C chr12 51354787 51360458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIGD1C chr12 5136809 5149424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 51369910 51383514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC11A2 chr12 51369910 51383514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC11A2 chr12 51369910 51383514 Gain and loss Pancreatic cancer SNP array 17952125 SLC11A2 chr12 51369910 51383514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC11A2 chr12 51372604 51373968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC11A2 chr12 51372912 51373716 Deletion Medulloblastoma Illumina SNP arrays 21163964 SLC11A2 chr12 51376334 51738002 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 BIN2,CELA1,CSRNP2,DAZAP2,LETMD1,POU6F1,SLC11A2,SMAGP,TFCP2 chr12 51408513 51408545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC11A2 chr12 51410900 51412847 Gain and loss Pancreatic cancer SNP array 17952125 SLC11A2 chr12 51412118 51412916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC11A2 chr12 51443454 51443944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LETMD1 chr12 51443457 51443944 Gain and loss Pancreatic cancer SNP array 17952125 LETMD1 chr12 51447781 51784371 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BIN2,CELA1,CSRNP2,DAZAP2,GALNT6,LETMD1,POU6F1,SMAGP,TFCP2 chr12 51448207 51457372 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CSRNP2,LETMD1 chr12 51448207 51457372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSRNP2,LETMD1 chr12 51448207 51457372 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP2,LETMD1 chr12 51448207 51457372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSRNP2,LETMD1 chr12 5146153 5191381 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNA5 chr12 51469737 51476159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CSRNP2 chr12 51469737 51476159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSRNP2 chr12 51469737 51476159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSRNP2 chr12 51469757 51476093 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP2 chr12 51485501 51612000 Copy number Normal ReadDepth: A Parallel R Package 21305028 POU6F1,TFCP2 chr12 51486600 51494602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TFCP2 chr12 51486600 51494602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFCP2 chr12 51486600 51494602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFCP2 chr12 51486601 51494109 Gain and loss Pancreatic cancer SNP array 17952125 TFCP2 chr12 51492165 51524686 Allelic imbalance Normal High-resolution SNP genotyping 21211785 TFCP2 chr12 51492165 51524686 Copy number gain Normal High-resolution SNP genotyping 21211785 TFCP2 chr12 51500000 54900000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AAAS,ACVR1B,ACVRL1,AMHR2,ANKRD33,ATF7,ATP5G2,BIN2,C12orf10,C12orf44,CALCOCO1,CBX5,CELA1,COPZ1,CSAD,DAZAP2,EIF4B,ESPL1,FIGNL2,FLJ12825,GALNT6,GPR84,GRASP,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGB7,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LINC00592,LOC100240734,LOC100240735,LOC100652999,LOC283335,LOC283403,LOC400043,MAP3K12,MFSD5,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,NPFF,NR4A1,PCBP2,PFDN5,POU6F1,PRR13,RARG,SCN8A,SLC4A8,SMAGP,SMUG1,SOAT2,SP1,SP7,SPRYD3,TARBP2,TENC1,TFCP2,ZNF385A,ZNF740 chr12 51500000 63100000 Gain Hodgkin's lymphoma Array CGH 18179710 AAAS,ACVR1B,ACVRL1,AGAP2,AMHR2,ANKRD33,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATF7,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,C12orf61,CALCOCO1,CBX5,CD63,CDK2,CDK4,CELA1,CNPY2,COPZ1,COQ10A,CS,CSAD,CTDSP2,CYP27B1,DAZAP2,DCD,DCTN2,DDIT3,DGKA,DNAJC14,DTX3,EIF4B,ERBB3,ESPL1,ESYT1,FAM19A2,FIGNL2,FLJ12825,GALNT6,GDF11,GLI1,GLS2,GLYCAM1,GPR182,GPR84,GRASP,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LINC00592,LOC100130776,LOC100240734,LOC100240735,LOC100506844,LOC100652999,LOC283335,LOC283403,LOC400043,LRIG3,LRP1,MAP3K12,MARCH9,MARS,MBD6,METTL1,METTL21B,METTL7B,MFSD5,MIP,MIR1228,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR615,MIRLET7I,MMP19,MON2,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NDUFA4L2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PDE1B,PFDN5,PIP4K2C,PMEL,POU6F1,PPM1H,PPP1R1A,PRIM1,PRR13,PTGES3,R3HDM2,RAB5B,RARG,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SCN8A,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SLC4A8,SMAGP,SMARCC2,SMUG1,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TFCP2,TIMELESS,TMEM194A,TMEM198B,TSFM,TSPAN31,USP15,WIBG,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A,ZNF740 chr12 51501499 51514346 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TFCP2 chr12 51501499 51514346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFCP2 chr12 51501499 51514346 Gain and loss Pancreatic cancer SNP array 17952125 TFCP2 chr12 51501499 51514346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFCP2 chr12 51501640 51502010 Copy number Ewing's sarcoma Array CGH 19144156 TFCP2 chr12 51517856 51529045 Gain and loss Pancreatic cancer SNP array 17952125 TFCP2 chr12 51517863 51529045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFCP2 chr12 51517863 51529045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFCP2 chr12 51521153 51553606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TFCP2 chr12 51567666 51567716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 51577237 51585135 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 POU6F1 chr12 51577238 51585127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POU6F1 chr12 51577238 51585127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POU6F1 chr12 51577244 51585100 Gain and loss Pancreatic cancer SNP array 17952125 POU6F1 chr12 51581184 51581860 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 POU6F1 chr12 51612001 51763800 Copy number Normal ReadDepth: A Parallel R Package 21305028 BIN2,CELA1,DAZAP2,GALNT6,SMAGP chr12 51628922 51632951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAZAP2 chr12 51628922 51632951 Gain and loss Pancreatic cancer SNP array 17952125 DAZAP2 chr12 51628922 51632951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAZAP2 chr12 51650637 52395596 LOH Normal High-resolution SNP genotyping 21211785 ACVR1B,ACVRL1,ANKRD33,BIN2,CELA1,FIGNL2,GALNT6,SCN8A,SLC4A8,SMAGP chr12 51650637 52530822 LOH Normal High-resolution SNP genotyping 21211785 ACVR1B,ACVRL1,ANKRD33,BIN2,C12orf44,CELA1,FIGNL2,GALNT6,GRASP,NR4A1,SCN8A,SLC4A8,SMAGP chr12 51686328 51722260 Gain or loss Breast cancer - 20668451 BIN2,CELA1 chr12 51686328 51722260 Gain or loss Cancer - 20668451 BIN2,CELA1 chr12 51686328 51722260 Gain or loss Lung cancer - 20668451 BIN2,CELA1 chr12 51686328 51722260 Gain or loss Ovarian cancer - 20668451 BIN2,CELA1 chr12 51686328 51722260 Gain or loss Pancreas cancer - 20668451 BIN2,CELA1 chr12 51686328 51722260 Gain or loss Prostate cancer - 20668451 BIN2,CELA1 chr12 51686329 51722259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BIN2,CELA1 chr12 51686329 51722259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIN2,CELA1 chr12 51686519 51722259 Gain and loss Pancreatic cancer SNP array 17952125 BIN2,CELA1 chr12 51720850 51721140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 51723501 51728000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELA1 chr12 51724073 51844567 Loss Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 CELA1,GALNT6,SLC4A8 chr12 51727077 51744430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELA1 chr12 51727077 51744430 Gain and loss Pancreatic cancer SNP array 17952125 CELA1 chr12 51727077 51744430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELA1 chr12 51728001 51744000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELA1 chr12 51730101 51744429 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CELA1 chr12 51744656 51759437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT6 chr12 51744656 51759437 Gain and loss Pancreatic cancer SNP array 17952125 GALNT6 chr12 51744656 51759437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT6 chr12 51750179 51750269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT6 chr12 51751356 51784171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNT6 chr12 51763801 52598700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACVR1B,ACVRL1,ANKRD33,C12orf44,FIGNL2,GALNT6,GRASP,KRT80,NR4A1,SCN8A,SLC4A8 chr12 51777702 51782395 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 GALNT6 chr12 51777702 51782395 Gain or loss Breast cancer - 20668451 GALNT6 chr12 51777702 51782395 Gain or loss Cancer - 20668451 GALNT6 chr12 51777702 51782395 Gain or loss Lung cancer - 20668451 GALNT6 chr12 51777702 51782395 Gain or loss Ovarian cancer - 20668451 GALNT6 chr12 51777702 51782395 Gain or loss Pancreas cancer - 20668451 GALNT6 chr12 51777702 51782395 Gain or loss Prostate cancer - 20668451 GALNT6 chr12 51777702 51782395 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 GALNT6 chr12 51777703 51782395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT6 chr12 51777703 51782395 Gain and loss Pancreatic cancer SNP array 17952125 GALNT6 chr12 51777703 51782395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT6 chr12 51783352 51826847 Copy number gain Normal High-resolution SNP genotyping 21211785 GALNT6,SLC4A8 chr12 51783541 51804590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT6,SLC4A8 chr12 51783541 51804590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT6,SLC4A8 chr12 51783578 51804589 Gain and loss Pancreatic cancer SNP array 17952125 GALNT6,SLC4A8 chr12 51795365 51795429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A8 chr12 51797675 51798997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC4A8 chr12 51798000 52404000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 ACVR1B,ACVRL1,ANKRD33,FIGNL2,GRASP,SCN8A,SLC4A8 chr12 51798500 51831731 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC4A8 chr12 51805828 51840158 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC4A8 chr12 51818596 51818702 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A8 chr12 51822079 51822603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51822104 51822385 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A8 chr12 51826847 52156528 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SCN8A,SLC4A8 chr12 51833347 51834541 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A8 chr12 51833347 51834541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51837713 51860697 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SLC4A8 chr12 51837714 51860647 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A8 chr12 51837714 51860959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51837714 51860959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51841137 52454924 LOH Normal High-resolution SNP genotyping 21211785 ACVR1B,ACVRL1,ANKRD33,FIGNL2,GRASP,NR4A1,SCN8A,SLC4A8 chr12 51847954 51848062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A8 chr1 2518501 2524000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM213B,MMEL1 chr12 51860799 51868724 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A8 chr12 51864534 51870921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51864534 51870921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51871373 51887267 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SLC4A8 chr12 51871375 51887267 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A8 chr12 51871377 51887267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51871377 51887267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51890619 51912303 Gain or loss Breast cancer - 20668451 SLC4A8 chr12 51890619 51912303 Gain or loss Cancer - 20668451 SLC4A8 chr12 51890619 51912303 Gain or loss Lung cancer - 20668451 SLC4A8 chr12 51890619 51912303 Gain or loss Ovarian cancer - 20668451 SLC4A8 chr12 51890619 51912303 Gain or loss Pancreas cancer - 20668451 SLC4A8 chr12 51890619 51912303 Gain or loss Prostate cancer - 20668451 SLC4A8 chr12 51890621 51912247 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A8 chr12 51890621 51912303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51890621 51912303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A8 chr12 51931704 51934455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51931704 51934455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51931784 51934455 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 25193459 25193559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 51948349 51973694 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 51948350 51973694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51948818 51973694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 51949041 51949141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 51975501 51979501 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 51975502 51979497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51975502 51979497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 51975584 51979497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 51979769 51987221 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 51979778 51987221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 51979778 51987221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 51980756 52071313 Loss Normal Birdsuite, version 1.5.2 22087296 SCN8A chr12 51987506 52001679 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SCN8A chr12 51987508 52001641 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 51987508 52001648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 51987508 52001648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 51990677 51990777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN8A chr12 52008197 52009489 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 52008197 52009489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52015531 52156528 Copy number gain Normal High-resolution SNP genotyping 21211785 SCN8A chr12 52019680 52020813 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SCN8A chr12 5204879 5204979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52060246 52096488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52060246 52096488 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 52060246 52096488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52072469 52072559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN8A chr12 5207364 8272188 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACRBP,ACSM4,ANO2,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD9,CDCA3,CHD4,CLEC4C,CLSTN3,COPS7A,DPPA3,DSTNP2,EMG1,ENO2,FOXJ2,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,LAG3,LEPREL2,LPAR5,LPCAT3,LRRC23,LTBR,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NECAP1,NOP2,NTF3,PEX5,PHB2,PIANP,PLEKHG6,PTMS,PTPN6,RBP5,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384 chr12 52103905 52111585 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SCN8A chr12 52103908 52111579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52103908 52111579 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 52103908 52111579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52121700 52126693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52121700 52126693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52132161 52159872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52132161 52159872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52132180 52159883 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 52135220 52169210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCN8A chr1 2521455 2528915 Gain and loss Pancreatic cancer SNP array 17952125 FAM213B,MMEL1 chr12 52148931 52149031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN8A chr12 52160547 52179538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52160547 52179538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52160547 52179711 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 52162501 52189000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCN8A chr12 52163744 52163844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN8A chr12 52180972 52186480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52180972 52186480 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 52180972 52186480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52186741 52187689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52186741 52187689 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 52186741 52187689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN8A chr12 52191573 52192094 Gain and loss Pancreatic cancer SNP array 17952125 SCN8A chr12 52196109 52306405 Gain or loss Breast cancer - 20668451 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52196109 52306405 Gain or loss Cancer - 20668451 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52196109 52306405 Gain or loss Lung cancer - 20668451 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52196109 52306405 Gain or loss Ovarian cancer - 20668451 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52196109 52306405 Gain or loss Pancreas cancer - 20668451 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52196109 52306405 Gain or loss Prostate cancer - 20668451 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52196111 52306405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52196111 52306405 Gain and loss Pancreatic cancer SNP array 17952125 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52196111 52306405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVRL1,ANKRD33,FIGNL2,SCN8A chr12 52202824 52202922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN8A chr12 52212842 52380748 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACVR1B,ACVRL1,ANKRD33,FIGNL2 chr12 52212842 52380748 Copy number gain Normal High-resolution SNP genotyping 21211785 ACVR1B,ACVRL1,ANKRD33,FIGNL2 chr12 52215336 52216023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FIGNL2 chr12 5222551 5222654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52252370 52262686 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 25226001 25291501 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 RUNX3 chr12 52261878 52261943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52262624 52262694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5230484 6883716 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACRBP,ANO2,CD27,CD27-AS1,CD9,CHD4,COPS7A,GAPDH,IFFO1,ING4,LAG3,LPAR5,LTBR,MLF2,MRPL51,NCAPD2,NOP2,NTF3,PIANP,PLEKHG6,PTMS,SCARNA10,SCARNA11,SCNN1A,TAPBPL,TNFRSF1A,VAMP1,VWF,ZNF384 chr12 52312835 52313202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVRL1 chr12 52312850 52313202 Gain and loss Pancreatic cancer SNP array 17952125 ACVRL1 chr12 52345212 52356779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACVR1B chr12 52345212 52356779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR1B chr12 52345216 52356696 Gain and loss Pancreatic cancer SNP array 17952125 ACVR1B chr12 52345803 52436777 Gain aortic dissecting aneurysms Array-CGH 22263138 ACVR1B,GRASP,NR4A1 chr12 52360144 52385017 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACVR1B chr12 52360144 52385017 Copy number gain Normal High-resolution SNP genotyping 21211785 ACVR1B chr12 52388125 52628593 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACVR1B,C12orf44,GRASP,KRT7,KRT80,LINC00592,LOC283403,NR4A1 chr12 52391170 52407486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRASP chr12 52391170 52407486 Gain and loss Pancreatic cancer SNP array 17952125 GRASP chr12 52391170 52407486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRASP chr12 52399816 52399890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2524001 2534000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MMEL1 chr12 52416654 52416754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR4A1 chr12 52417126 60370345 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAAS,AGAP2,AMHR2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATF7,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf44,CALCOCO1,CBX5,CD63,CDK2,CDK4,CNPY2,COPZ1,COQ10A,CS,CSAD,CTDSP2,CYP27B1,DCD,DCTN2,DDIT3,DGKA,DNAJC14,DTX3,EIF4B,ERBB3,ESPL1,ESYT1,FLJ12825,GDF11,GLI1,GLS2,GLYCAM1,GPR182,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IGFBP6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,ITGB7,KIF5A,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LINC00592,LOC100130776,LOC100240734,LOC100240735,LOC100506844,LOC100652999,LOC283335,LOC283403,LOC400043,LRIG3,LRP1,MAP3K12,MARCH9,MARS,MBD6,METTL1,METTL21B,METTL7B,MFSD5,MIP,MIR1228,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR615,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NDUFA4L2,NEUROD4,NFE2,NPFF,NR4A1,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PCBP2,PDE1B,PFDN5,PIP4K2C,PMEL,PPP1R1A,PRIM1,PRR13,PTGES3,R3HDM2,RAB5B,RARG,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SMUG1,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPRYD3,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TARBP2,TENC1,TESPA1,TIMELESS,TMEM194A,TMEM198B,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A,ZNF740 chr12 52454124 52454156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52456860 52456897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52471354 52471417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 5247928 5282289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 52498858 53412753 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EIF4B,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LINC00592,LOC283403 chr12 52531675 52531963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 52607501 52898500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT6A,KRT6B,KRT6C,KRT7,KRT75,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LINC00592 chr12 52618842 52626595 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 52618842 52626595 Gain or loss Cancer - 20668451 NOT_FOUND chr12 52618842 52626595 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 52618842 52626595 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 52618842 52626595 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 52618842 52626595 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 52618843 52626594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 52618843 52626594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52618843 52626594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 52618843 52626594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52618957 52625305 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr1 25262023 25262123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUNX3 chr12 52625207 52625274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52633336 52820913 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KRT7,KRT75,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86 chr12 52633336 52820913 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KRT7,KRT75,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86 chr12 52634981 52636617 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KRT7 chr12 52634981 52636617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT7 chr12 52634981 52636617 Gain and loss Pancreatic cancer SNP array 17952125 KRT7 chr12 52634981 52636617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT7 chr1 25264054 25264154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUNX3 chr12 52641022 52641106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRT7 chr12 52653176 52656470 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 52653176 52656470 Gain or loss Cancer - 20668451 NOT_FOUND chr12 52653176 52656470 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 52653176 52656470 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 52653176 52656470 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 52653176 52656470 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 52653177 52656468 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 52653177 52656468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52653177 52656468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52653195 52656468 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr12 52653196 52656468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 52665213 52670327 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 52665213 52670327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52665213 52670327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52665221 52670327 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 52668848 52668998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52671789 52671898 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 52671789 52671898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52680144 52683383 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KRT81 chr12 52680144 52683383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT81 chr12 52680144 52683383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT81 chr12 52680144 52683385 Gain and loss Pancreatic cancer SNP array 17952125 KRT81 chr12 52689156 52692812 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 52689157 52692790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 52689157 52692814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52689157 52692814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25268924 25301303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RUNX3 chr12 52696909 52710874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT83,KRT86 chr12 52696909 52710874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT83,KRT86 chr12 52696909 52736081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT83,KRT86 chr12 52696909 52736081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT83,KRT86 chr12 52696940 52735630 Gain and loss Pancreatic cancer SNP array 17952125 KRT83,KRT86 chr12 52708467 52710865 Gain and loss Pancreatic cancer SNP array 17952125 KRT83 chr12 52713099 52715412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT83 chr12 52713099 52715412 Gain and loss Pancreatic cancer SNP array 17952125 KRT83 chr12 52713099 52715412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT83 chr12 52714001 52714096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT83 chr12 52721196 52753273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 52779242 52779353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT84 chr12 52779243 52779353 Gain and loss Pancreatic cancer SNP array 17952125 KRT84 chr12 52779244 52779353 Gain and loss Pancreatic cancer SNP array 17952125 KRT84 chr12 52788091 52788191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRT82 chr12 52813490 52813695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52813695 52813916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52819011 52819111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRT75 chr12 52861519 52869024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT6C chr12 52861519 52869024 Gain and loss Pancreatic cancer SNP array 17952125 KRT6C chr12 52861519 52869024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT6C chr12 52878650 53179396 Copy number gain Normal High-resolution SNP genotyping 21211785 KRT1,KRT2,KRT5,KRT6A,KRT71,KRT72,KRT73,KRT74,KRT76,KRT77 chr12 52878650 56156533 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AAAS,AMHR2,ATF7,ATP5G2,BLOC1S1,BLOC1S1-RDH5,C12orf10,CALCOCO1,CBX5,CD63,COPZ1,CSAD,DCD,EIF4B,ESPL1,FLJ12825,GDF11,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGA7,ITGB7,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT71,KRT72,KRT73,KRT74,KRT76,KRT77,KRT78,KRT79,KRT8,LACRT,LOC100240734,LOC100240735,LOC100652999,LOC283335,LOC400043,MAP3K12,METTL7B,MFSD5,MIR148B,MIR196A2,MIR3198-2,MIR615,MUCL1,NCKAP1L,NEUROD4,NFE2,NPFF,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,PCBP2,PDE1B,PFDN5,PPP1R1A,PRR13,RARG,RDH5,SARNP,SMUG1,SOAT2,SP1,SP7,SPRYD3,TARBP2,TENC1,TESPA1,ZNF385A,ZNF740 chr12 52904855 52904955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52910828 52910914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRT5 chr12 52921003 52960153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT71,KRT74 chr12 52921003 52960153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT71,KRT74 chr12 52921678 52960151 Gain and loss Pancreatic cancer SNP array 17952125 KRT71,KRT74 chr12 52932873 52932973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 52935678 52935960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 52935678 52935960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52935681 52935961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25294478 25304309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 52960755 52965295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT74 chr12 52960755 52965295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT74 chr12 52960859 52964364 Gain and loss Pancreatic cancer SNP array 17952125 KRT74 chr12 52972165 52981058 Gain and loss Pancreatic cancer SNP array 17952125 KRT72 chr12 52972167 52975811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52972167 52975811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 52981149 52981248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRT72 chr12 52981304 57130106 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 AAAS,AMHR2,ANKRD52,APOF,ATF7,ATP5B,ATP5G2,BAZ2A,BLOC1S1,BLOC1S1-RDH5,C12orf10,CALCOCO1,CBX5,CD63,CDK2,CNPY2,COPZ1,COQ10A,CS,CSAD,DCD,DGKA,DNAJC14,EIF4B,ERBB3,ESPL1,ESYT1,FLJ12825,GDF11,GLS2,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,IKZF4,IL23A,ITGA5,ITGA7,ITGB7,KRT1,KRT18,KRT2,KRT3,KRT4,KRT72,KRT73,KRT76,KRT77,KRT78,KRT79,KRT8,LACRT,LOC100240734,LOC100240735,LOC100652999,LOC283335,LOC400043,MAP3K12,METTL7B,MFSD5,MIP,MIR148B,MIR196A2,MIR3198-2,MIR615,MMP19,MUCL1,MYL6,MYL6B,NABP2,NACA,NCKAP1L,NEUROD4,NFE2,NPFF,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,PA2G4,PAN2,PCBP2,PDE1B,PFDN5,PMEL,PPP1R1A,PRIM1,PRR13,PTGES3,RAB5B,RARG,RBMS2,RDH5,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,SMUG1,SNORD59A,SNORD59B,SOAT2,SP1,SP7,SPRYD3,SPRYD4,STAT2,SUOX,TARBP2,TENC1,TESPA1,TIMELESS,TMEM198B,WIBG,ZC3H10,ZNF385A,ZNF740 chr12 52997832 52997938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 52997832 52997938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 5300000 10000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,ANO2,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DDX12P,DPPA3,DSTNP2,EMG1,ENO2,FAM66C,FAM86FP,FAM90A1,FOXJ2,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KLRB1,KLRF1,KLRG1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NECAP1,NOP2,NTF3,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PTMS,PTPN6,PZP,RBP5,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 5300000 10000000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,ANO2,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DDX12P,DPPA3,DSTNP2,EMG1,ENO2,FAM66C,FAM86FP,FAM90A1,FOXJ2,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KLRB1,KLRF1,KLRG1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NECAP1,NOP2,NTF3,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PTMS,PTPN6,PZP,RBP5,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 5300000 10000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,ANO2,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DDX12P,DPPA3,DSTNP2,EMG1,ENO2,FAM66C,FAM86FP,FAM90A1,FOXJ2,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KLRB1,KLRF1,KLRG1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NECAP1,NOP2,NTF3,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PTMS,PTPN6,PZP,RBP5,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 5300000 10000000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,ANO2,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DDX12P,DPPA3,DSTNP2,EMG1,ENO2,FAM66C,FAM86FP,FAM90A1,FOXJ2,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KLRB1,KLRF1,KLRG1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NECAP1,NOP2,NTF3,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PTMS,PTPN6,PZP,RBP5,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 5300000 10000000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,ANO2,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLECL1,CLSTN3,COPS7A,DDX12P,DPPA3,DSTNP2,EMG1,ENO2,FAM66C,FAM86FP,FAM90A1,FOXJ2,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KLRB1,KLRF1,KLRG1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC374443,LOC389634,LOC642846,LPAR5,LPCAT3,LRRC23,LTBR,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NECAP1,NOP2,NTF3,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PTMS,PTPN6,PZP,RBP5,RIMKLB,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,TAPBPL,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 5300000 12600000 Loss Disorders of sex development - 21048976 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,ANO2,APOBEC1,ATN1,BCL2L14,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CSDA,DDX12P,DPPA3,DSTNP2,EMG1,ENO2,ETV6,FAM66C,FAM86FP,FAM90A1,FOXJ2,GABARAPL1,GAPDH,GDF3,GNB3,GPR162,IFFO1,ING4,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC338817,LOC374443,LOC389634,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NECAP1,NOP2,NTF3,OLR1,PEX5,PHB2,PHC1,PIANP,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTMS,PTPN6,PZP,RBP5,RIMKLB,RNU6-19,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 5300000 14800000 Gain Malignant fibrous histiocytomas aCGH 21085701 A2M,A2M-AS1,A2ML1,A2MP1,ACRBP,ACSM4,AICDA,ANO2,APOBEC1,APOLD1,ATF7IP,ATN1,BCL2L14,C12orf36,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,COPS7A,CREBL2,CSDA,DDX12P,DDX47,DPPA3,DSTNP2,DUSP16,EMG1,EMP1,ENO2,ETV6,FAM66C,FAM86FP,FAM90A1,FOXJ2,GABARAPL1,GAPDH,GDF3,GNB3,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,HEBP1,HTR7P1,IFFO1,ING4,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LAG3,LEPREL2,LINC00612,LOC100499405,LOC100506314,LOC338817,LOC374443,LOC389634,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRP6,LRRC23,LTBR,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR613,MIR614,MLF2,MRPL51,NANOG,NANOGNB,NCAPD2,NECAP1,NOP2,NTF3,OLR1,PEX5,PHB2,PHC1,PIANP,PLBD1,PLEKHG6,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTMS,PTPN6,PZP,RBP5,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SLC2A14,SLC2A3,SPSB2,STYK1,TAPBPL,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384,ZNF705A chr12 53005178 53031900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT73 chr12 53005178 53031900 Gain and loss Pancreatic cancer SNP array 17952125 KRT73 chr12 53005178 53031900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT73 chr12 53005265 53005355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRT73 chr12 53017267 53017365 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 53017267 53017365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25303001 25392000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 53042496 53044525 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KRT2 chr12 53042496 53044525 Gain or loss Breast cancer - 20668451 KRT2 chr12 53042496 53044525 Gain or loss Cancer - 20668451 KRT2 chr12 53042496 53044525 Gain or loss Lung cancer - 20668451 KRT2 chr12 53042496 53044525 Gain or loss Ovarian cancer - 20668451 KRT2 chr12 53042496 53044525 Gain or loss Pancreas cancer - 20668451 KRT2 chr12 53042496 53044525 Gain or loss Prostate cancer - 20668451 KRT2 chr12 53042498 53044535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT2 chr12 53042498 53044535 Gain and loss Pancreatic cancer SNP array 17952125 KRT2 chr12 53042498 53044535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT2 chr12 53049186 53071332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT1 chr12 53049186 53071332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT1 chr12 53049186 53071350 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KRT1 chr12 53049187 53071337 Gain and loss Pancreatic cancer SNP array 17952125 KRT1 chr12 53075311 53099317 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KRT77 chr12 53075311 53099317 Gain or loss Breast cancer - 20668451 KRT77 chr12 53075311 53099317 Gain or loss Cancer - 20668451 KRT77 chr12 53075311 53099317 Gain or loss Lung cancer - 20668451 KRT77 chr12 53075311 53099317 Gain or loss Ovarian cancer - 20668451 KRT77 chr12 53075311 53099317 Gain or loss Pancreas cancer - 20668451 KRT77 chr12 53075311 53099317 Gain or loss Prostate cancer - 20668451 KRT77 chr12 53075316 53099317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT77 chr12 53075316 53099317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT77 chr12 53075322 53099302 Gain and loss Pancreatic cancer SNP array 17952125 KRT77 chr12 53100000 55200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AAAS,AMHR2,ATF7,ATP5G2,C12orf10,CALCOCO1,CBX5,COPZ1,CSAD,DCD,EIF4B,ESPL1,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGB7,KRT18,KRT3,KRT4,KRT76,KRT78,KRT79,KRT8,LACRT,LOC100240734,LOC100240735,LOC100652999,LOC283335,LOC400043,MAP3K12,MFSD5,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,NPFF,PCBP2,PDE1B,PFDN5,PPP1R1A,PRR13,RARG,SMUG1,SOAT2,SP1,SP7,SPRYD3,TARBP2,TENC1,ZNF385A,ZNF740 chr12 53100000 55200000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 AAAS,AMHR2,ATF7,ATP5G2,C12orf10,CALCOCO1,CBX5,COPZ1,CSAD,DCD,EIF4B,ESPL1,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGB7,KRT18,KRT3,KRT4,KRT76,KRT78,KRT79,KRT8,LACRT,LOC100240734,LOC100240735,LOC100652999,LOC283335,LOC400043,MAP3K12,MFSD5,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,NPFF,PCBP2,PDE1B,PFDN5,PPP1R1A,PRR13,RARG,SMUG1,SOAT2,SP1,SP7,SPRYD3,TARBP2,TENC1,ZNF385A,ZNF740 chr12 53100000 55200000 Gain Splenic marginal zone lymphoma 44k aCGH 18492102 AAAS,AMHR2,ATF7,ATP5G2,C12orf10,CALCOCO1,CBX5,COPZ1,CSAD,DCD,EIF4B,ESPL1,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,IGFBP6,ITGA5,ITGB7,KRT18,KRT3,KRT4,KRT76,KRT78,KRT79,KRT8,LACRT,LOC100240734,LOC100240735,LOC100652999,LOC283335,LOC400043,MAP3K12,MFSD5,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,NPFF,PCBP2,PDE1B,PFDN5,PPP1R1A,PRR13,RARG,SMUG1,SOAT2,SP1,SP7,SPRYD3,TARBP2,TENC1,ZNF385A,ZNF740 chr12 53112015 53112079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53113292 53113392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5311797 5311897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53120981 53121081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53121029 53140710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 53136002 53153653 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 53136012 53153653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 53136012 53153653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 53136012 53153653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 53139761 53140075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 25314047 25409972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 25316374 25415685 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 53174317 53577215 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CSAD,EIF4B,IGFBP6,KRT18,KRT3,KRT4,KRT78,KRT79,KRT8,LOC283335,SOAT2,SPRYD3,TENC1,ZNF740 chr12 53177761 53223166 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KRT3,KRT4,KRT79 chr12 53177762 53223165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT3,KRT4,KRT79 chr12 53177762 53223165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT3,KRT4,KRT79 chr12 53177780 53223160 Gain and loss Pancreatic cancer SNP array 17952125 KRT3,KRT4,KRT79 chr1 25317971 25407889 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 25318324 25417454 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 53207795 53207834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRT4 chr12 53229671 53259290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT78 chr12 53229671 53259290 Gain and loss Pancreatic cancer SNP array 17952125 KRT78 chr12 53229671 53259290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT78 chr1 25324131 25324532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 53241365 53259290 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KRT78 chr12 53244171 53244249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53257439 53268710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 53257439 53268710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 53259290 53268710 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 53259302 53268710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 53273427 53273481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 25330663 25410174 Loss or gain Normal 244K array 17666407 NOT_FOUND chr12 53310863 53314946 Gain and loss Pancreatic cancer SNP array 17952125 KRT8 chr12 53310864 53314946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT8 chr12 53310864 53314946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT8 chr12 5331237 5952819 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANO2,NTF3 chr12 53322794 53869510 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AAAS,AMHR2,C12orf10,CSAD,EIF4B,ESPL1,IGFBP6,ITGB7,KRT18,KRT8,LOC283335,MFSD5,PCBP2,PFDN5,PRR13,RARG,SOAT2,SP1,SP7,SPRYD3,TENC1,ZNF740 chr12 53324082 127795646 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AAAS,AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,AMHR2,ANAPC5,ANAPC7,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATF7,ATP2A2,ATP2B1,ATP5B,ATP5G2,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BLOC1S1,BLOC1S1-RDH5,BRAP,BRI3BP,BTBD11,BTG1,C12orf10,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CALCOCO1,CAMKK2,CAND1,CAPS2,CBX5,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CD63,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COPZ1,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSAD,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCD,DCN,DCTN2,DDIT3,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,EIF4B,ELK3,EPYC,ERBB3,ERP29,ESPL1,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ12825,FLJ41278,FOXN4,FRS2,GALNT4,GAS2L3,GATC,GCN1L1,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GLTP,GLYCAM1,GNN,GNPTAB,GNS,GOLGA2P5,GPN3,GPR182,GPR84,GRIP1,GTF2H3,GTSF1,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IGFBP6,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,ITGA5,ITGA7,ITGB7,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT18,KRT19P2,KRT8,KSR2,LACRT,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00615,LLPH,LOC100128554,LOC100130776,LOC100131138,LOC100240734,LOC100240735,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC100652999,LOC144486,LOC144742,LOC256021,LOC283335,LOC338758,LOC338799,LOC387895,LOC400043,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAP3K12,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,METTL7B,MFSD5,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR148B,MIR1827,MIR196A2,MIR26A2,MIR3198-2,MIR331,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR615,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCKAP1L,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NEUROD4,NFE2,NFYB,NOS1,NPFF,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PCBP2,PDE1B,PEBP1,PFDN5,PHLDA1,PIP4K2C,PITPNM2,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPP1R1A,PPTC7,PRDM4,PRIM1,PRKAB1,PRR13,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAP1B,RARG,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RDH5,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SH2B3,SHMT2,SIRT4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SMUG1,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOAT2,SOCS2,SOCS2-AS1,SP1,SP7,SPIC,SPPL3,SPRYD3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TARBP2,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TENC1,TESC,TESPA1,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF385A,ZNF664,ZNF664-FAM101A,ZNF740 chr12 53324645 53328413 Gain and loss Pancreatic cancer SNP array 17952125 KRT8 chr12 53324699 53328544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT8 chr12 53324699 53328544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT8 chr1 25334807 25409817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 2534001 2549000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MMEL1 chr1 25340648 25373503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 53413574 53413633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EIF4B chr1 25344321 25402252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 53453253 53453316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TENC1 chr12 5346171 5346650 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 5346171 5346650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 5346171 5346650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 53496814 53496848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53534566 53538437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 53534566 53538437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 53534595 53538434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 53590737 53590787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB7 chr12 53602655 53611639 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RARG chr1 25360430 25360488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53608024 53608124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RARG chr12 53624261 54329811 LOH Normal High-resolution SNP genotyping 21211785 AAAS,AMHR2,ATF7,ATP5G2,C12orf10,CALCOCO1,ESPL1,HOXC-AS5,LOC100652999,MAP3K12,MFSD5,NPFF,PCBP2,PFDN5,PRR13,RARG,SP1,SP7,TARBP2 chr12 53628069 53653981 Gain and loss Pancreatic cancer SNP array 17952125 MFSD5 chr12 53630045 54339015 LOH Normal High-resolution SNP genotyping 21211785 AAAS,AMHR2,ATF7,ATP5G2,C12orf10,CALCOCO1,ESPL1,HOXC-AS5,HOXC13,LOC100652999,MAP3K12,MFSD5,NPFF,PCBP2,PFDN5,PRR13,SP1,SP7,TARBP2 chr12 53630196 53654669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFSD5 chr12 53658780 54000828 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AAAS,AMHR2,ATF7,C12orf10,ESPL1,LOC100652999,MAP3K12,NPFF,PCBP2,PFDN5,PRR13,SP1,SP7,TARBP2 chr12 53695898 54943525 LOH Normal High-resolution SNP genotyping 21211785 AAAS,AMHR2,ATF7,ATP5G2,C12orf10,CALCOCO1,CBX5,COPZ1,FLJ12825,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LOC100240734,LOC100240735,LOC100652999,LOC400043,MAP3K12,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,NPFF,PCBP2,PDE1B,PRR13,SMUG1,SP1,SP7,TARBP2,ZNF385A chr12 53697651 54319752 LOH Normal High-resolution SNP genotyping 21211785 AAAS,AMHR2,ATF7,ATP5G2,C12orf10,CALCOCO1,LOC100652999,MAP3K12,NPFF,PCBP2,PRR13,SP1,SP7,TARBP2 chr12 53699889 53707486 Gain and loss Pancreatic cancer SNP array 17952125 AAAS,C12orf10 chr12 53699996 53710065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AAAS,C12orf10 chr12 53699996 53710065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAAS,C12orf10 chr12 53715779 53715854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53764484 54296885 LOH Normal High-resolution SNP genotyping 21211785 AMHR2,ATF7,ATP5G2,CALCOCO1,LOC100652999,MAP3K12,NPFF,PCBP2,PRR13,SP1,TARBP2 chr12 5376487 5391064 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 25377554 25377629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5377888 5377988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53795584 53796348 Gain and loss Pancreatic cancer SNP array 17952125 SP1 chr12 53795584 53796348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP1 chr12 53809820 53810827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SP1 chr12 53809820 53810827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP1 chr12 53809886 53810827 Gain and loss Pancreatic cancer SNP array 17952125 SP1 chr12 53869906 53870006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCBP2 chr12 53873909 54057787 Gain and loss Pancreatic cancer SNP array 17952125 ATF7,LOC100652999,MAP3K12,NPFF,PCBP2,TARBP2 chr12 53895667 53895737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TARBP2 chr12 53901076 53902026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7,NPFF chr12 53901076 53902026 Gain and loss Pancreatic cancer SNP array 17952125 ATF7,NPFF chr12 53901076 53902026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7,NPFF chr12 53908018 53908137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATF7,LOC100652999 chr1 25392001 25397000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 53927339 53928262 Gain and loss Pancreatic cancer SNP array 17952125 ATF7 chr12 53927339 53928277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 53927339 53928277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 53942953 53943437 Gain and loss Pancreatic cancer SNP array 17952125 ATF7 chr12 53942953 53943437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 53963801 53993127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 53963801 54107219 Gain and loss Pancreatic cancer SNP array 17952125 ATF7,ATP5G2,CALCOCO1 chr12 53974339 53975283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 53974339 53975283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr1 25397998 25398098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 53982819 53982851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF7 chr12 53992623 54015868 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATF7 chr12 53998850 54018208 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATF7 chr12 54000651 54001589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 54000651 54001589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 54010058 54032468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATF7 chr12 54011752 54012687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 54011752 54012687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7 chr12 54012885 54021932 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATF7 chr12 54013477 54014450 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATF7 chr12 54045162 54046100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54045162 54046100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54048497 54063141 Gain Normal Quantitative PCR 18989455 ATP5G2 chr12 54056849 54057787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54080580 54081518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54080580 54081518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54089769 54094994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54089769 54094994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54090939 54095044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 25410125 25434166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54106305 54107243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALCOCO1 chr12 54106305 54107243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALCOCO1 chr12 5412535 5412635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 25412778 25412841 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54132265 54133203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54132265 54133203 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54132265 54133203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54149251 54150189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54149251 54150189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54149341 54149826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 25415618 25415713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 25416339 25416374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54172414 54173367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54172414 54173367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25418083 25418184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 5419550 5424265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 25421354 25431600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25421354 25431600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54218922 58779615 Gain Autism qPCR 20531469 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,BLOC1S1,BLOC1S1-RDH5,CBX5,CD63,CDK2,CDK4,CNPY2,COPZ1,COQ10A,CS,CTDSP2,CYP27B1,DCD,DCTN2,DDIT3,DGKA,DNAJC14,DTX3,ERBB3,ESYT1,FLJ12825,GDF11,GLI1,GLS2,GLYCAM1,GPR182,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,IKZF4,IL23A,INHBC,INHBE,ITGA5,ITGA7,KIF5A,LACRT,LOC100130776,LOC100240734,LOC100240735,LOC100506844,LOC400043,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,METTL7B,MIP,MIR1228,MIR148B,MIR196A2,MIR26A2,MIR3198-2,MIR615,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NDUFA4L2,NEUROD4,NFE2,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PDE1B,PIP4K2C,PMEL,PPP1R1A,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SDR9C7,SHMT2,SLC26A10,SLC39A5,SMARCC2,SMUG1,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TESPA1,TIMELESS,TMEM194A,TMEM198B,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10,ZNF385A chr12 54231154 54232207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54231154 54232207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54231278 54232207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54254466 54255395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54254466 54255395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54306323 54356341 Copy number gain Normal High-resolution SNP genotyping 21211785 HOTAIR,HOXC-AS5,HOXC12,HOXC13 chr12 54316943 54317884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54316943 54317884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54316943 54317884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54318142 54320731 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 54335716 54335816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOXC13 chr1 25434115 25501999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54346462 55067798 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC10,HOXC11,HOXC12,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54346462 55155430 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC10,HOXC11,HOXC12,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr1 25434674 25465715 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 54361686 54364659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOTAIR chr12 54361686 54364659 Gain and loss Pancreatic cancer SNP array 17952125 HOTAIR chr12 54361686 54364659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOTAIR chr12 54363342 55100896 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC10,HOXC11,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54364343 55299440 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC10,HOXC11,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR196A2,MIR3198-2,MIR615,MUCL1,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54364623 54387949 Gain and loss Pancreatic cancer SNP array 17952125 HOTAIR,HOXC10,HOXC11,MIR196A2 chr12 54364640 54387949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOTAIR,HOXC10,HOXC11,MIR196A2 chr12 54364640 54387949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOTAIR,HOXC10,HOXC11,MIR196A2 chr12 543722 643016 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 B4GALNT3,CCDC77 chr12 543724 643016 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B4GALNT3,CCDC77 chr12 543724 643016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B4GALNT3,CCDC77 chr12 543724 643016 Gain and loss Pancreatic cancer SNP array 17952125 B4GALNT3,CCDC77 chr12 543724 643016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B4GALNT3,CCDC77 chr12 54376449 55100921 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC10,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR196A2,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54378511 54378611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54390336 55140285 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54393101 55055482 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54393101 55100896 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54396088 54399751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOXC9 chr12 54396088 54399751 Gain and loss Pancreatic cancer SNP array 17952125 HOXC9 chr12 54396088 54399751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOXC9 chr12 54399036 55100896 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC4,HOXC5,HOXC6,HOXC8,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54399036 55155430 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC4,HOXC5,HOXC6,HOXC8,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54400464 54404754 Gain and loss Pancreatic cancer SNP array 17952125 HOXC8 chr12 54400488 54404754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOXC8 chr12 54400488 54404754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOXC8 chr12 54402001 55055482 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC4,HOXC5,HOXC6,HOXC8,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54402001 55100921 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC4,HOXC5,HOXC6,HOXC8,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54404725 54411977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOXC4,HOXC5,HOXC6,HOXC8 chr12 54405500 54409177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOXC8 chr12 54405500 54409177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOXC8 chr12 54405525 54409076 Gain and loss Pancreatic cancer SNP array 17952125 HOXC8 chr1 25441326 25446572 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 25441328 25446572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25441328 25446572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54414744 54414833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOXC4,HOXC5,HOXC6 chr12 54416694 55155430 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,FLJ12825,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,HOXC4,HOXC5,HOXC6,ITGA5,LACRT,LOC100240734,LOC100240735,LOC400043,MIR148B,MIR3198-2,MIR615,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr12 54423331 54430332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOXC4,HOXC5,HOXC6,MIR615 chr12 54423331 54430332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOXC4,HOXC5,HOXC6,MIR615 chr12 54423335 54430332 Gain and loss Pancreatic cancer SNP array 17952125 HOXC4,HOXC5,HOXC6,MIR615 chr12 54437325 54497773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825,HOXC4,LOC100240734,LOC100240735 chr12 54437325 54497773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825,HOXC4,LOC100240734,LOC100240735 chr12 54437325 54509603 Gain and loss Pancreatic cancer SNP array 17952125 FLJ12825,HOXC4,LOC100240734,LOC100240735 chr1 25445501 25447000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 54496959 54887816 Amplification Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 CBX5,COPZ1,FLJ12825,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,ITGA5,LOC400043,MIR148B,MIR3198-2,NFE2,SMUG1,ZNF385A chr12 54498073 54501226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825 chr12 54498073 54501226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825 chr12 54498121 54500773 Gain and loss Pancreatic cancer SNP array 17952125 FLJ12825 chr12 54501011 54509687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825 chr12 54501011 54509687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825 chr12 54509796 54516295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825 chr12 54510905 54516295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825 chr12 54514203 54516295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825 chr12 54514203 54516295 Gain and loss Pancreatic cancer SNP array 17952125 FLJ12825 chr12 54514203 54516295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825 chr12 54515482 54523000 Gain and loss Pancreatic cancer SNP array 17952125 FLJ12825,LOC400043 chr12 54515511 54523002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825,LOC400043 chr12 54515511 54523002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ12825,LOC400043 chr12 54532672 54577079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMUG1 chr12 54534355 54534616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54534355 54534616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54541284 54541347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54542847 54542926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54544553 54544862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 25454993 25641885 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 C1orf63,RHD,SYF2 chr1 25455204 25491615 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 25455266 25519533 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 54553384 54553484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54553631 54553715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54554729 54554892 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54554729 54554892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25455917 25517758 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 25455917 25534075 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 25455928 25534592 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 54567160 55220787 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CBX5,COPZ1,DCD,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,ITGA5,LACRT,MIR148B,MIR3198-2,NCKAP1L,NFE2,PDE1B,PPP1R1A,SMUG1,ZNF385A chr1 25457053 25489734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 25457812 25537782 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 54581463 54607964 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SMUG1 chr12 54581464 54607812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMUG1 chr12 54581464 54607812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMUG1 chr12 54581464 54607964 Gain and loss Pancreatic cancer SNP array 17952125 SMUG1 chr12 54585656 54585756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54601140 54905333 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 CBX5,COPZ1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,ITGA5,MIR148B,MIR3198-2,NCKAP1L,NFE2,ZNF385A chr12 54602209 54602285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5460881 5461149 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 54611213 54634072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBX5,MIR3198-2 chr12 54611213 54634072 Gain and loss Pancreatic cancer SNP array 17952125 CBX5,MIR3198-2 chr12 54611213 54634072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX5,MIR3198-2 chr1 25463365 25536785 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 54634155 54646763 Deletion Prostate cancer Affymetrix SNP 500K array 21498400 CBX5 chr12 54634155 54646763 Insertion Normal References 22138850 CBX5 chr12 54634157 54646765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBX5 chr12 54634157 54646765 Gain and loss Pancreatic cancer SNP array 17952125 CBX5 chr12 54634157 54646765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX5 chr12 54635721 54637288 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CBX5 chr12 54639162 54639262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBX5 chr12 54640544 55235826 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,ITGA5,LACRT,MIR148B,NCKAP1L,NFE2,PDE1B,PPP1R1A,ZNF385A chr12 54640544 55240812 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,ITGA5,LACRT,MIR148B,NCKAP1L,NFE2,PDE1B,PPP1R1A,ZNF385A chr12 54640544 55245339 LOH Normal High-resolution SNP genotyping 21211785 CBX5,COPZ1,DCD,GLYCAM1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,ITGA5,LACRT,MIR148B,NCKAP1L,NFE2,PDE1B,PPP1R1A,ZNF385A chr12 54646822 54652835 Gain or loss Breast cancer - 20668451 CBX5 chr12 54646822 54652835 Gain or loss Cancer - 20668451 CBX5 chr12 54646822 54652835 Gain or loss Lung cancer - 20668451 CBX5 chr12 54646822 54652835 Gain or loss Ovarian cancer - 20668451 CBX5 chr12 54646822 54652835 Gain or loss Pancreas cancer - 20668451 CBX5 chr12 54646822 54652835 Gain or loss Prostate cancer - 20668451 CBX5 chr12 54646826 54652832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBX5 chr12 54646826 54652832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX5 chr12 54646826 54652834 Gain and loss Pancreatic cancer SNP array 17952125 CBX5 chr12 54654027 54674745 Gain and loss Pancreatic cancer SNP array 17952125 CBX5,HNRNPA1,HNRNPA1P10 chr12 54654125 54674736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBX5,HNRNPA1,HNRNPA1P10 chr12 54654125 54674736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX5,HNRNPA1,HNRNPA1P10 chr1 25465715 25519533 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 25465715 25519573 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 25465715 25534592 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 25465715 25534592 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 25465715 25534799 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 54660473 54661084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBX5 chr12 54660473 54661084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX5 chr12 54665694 54890101 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CBX5,COPZ1,GPR84,GTSF1,HNRNPA1,HNRNPA1P10,ITGA5,MIR148B,NFE2,ZNF385A chr12 5467710 54685576 Copy number Autism exome sequencing 22495311 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,ABCC9,ABCD2,ACRBP,ACSM4,ACVR1B,ACVRL1,ADAMTS20,ADCY6,AEBP2,AICDA,ALG10,ALG10B,AMHR2,AMIGO2,AMN1,ANKRD33,ANO2,ANO6,ANP32D,APOBEC1,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGDIB,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP5G2,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BHLHE41,BICD1,BIN2,C12orf10,C12orf36,C12orf39,C12orf40,C12orf44,C12orf54,C12orf57,C12orf60,C12orf68,C12orf69,C12orf70,C12orf71,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNB3,CALCOCO1,CAPRIN2,CAPZA3,CASC1,CBX5,CCDC65,CCDC91,CCNT1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD69,CD9,CDCA3,CDKN1B,CELA1,CERS5,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,CNTN1,COL2A1,COPS7A,COX14,CPNE8,CREBL2,CSAD,CSDA,CSRNP2,DAZAP2,DBX2,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DENND5B,DENND5B-AS1,DERA,DHH,DIP2B,DNAJC22,DNM1L,DPPA3,DSTNP2,DUSP16,EIF4B,EMG1,EMP1,ENDOU,ENO2,EPS8,ERGIC2,ERP27,ESPL1,ETNK1,ETV6,FAIM2,FAM186A,FAM186B,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FGD4,FGFR1OP2,FIGNL2,FKBP11,FLJ12825,FLJ13224,FMNL3,FOXJ2,GABARAPL1,GALNT6,GAPDH,GDF3,GNB3,GOLT1B,GPD1,GPR162,GPR19,GPRC5A,GPRC5D,GRASP,GRIN2B,GSG1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HDAC7,HEBP1,HIGD1C,HIST4H4,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HTR7P1,IAPP,IFFO1,IFLTD1,IGFBP6,ING4,IPO8,IRAK4,ITGB7,ITPR2,KANSL2,KCNH3,KCNJ8,KIAA0528,KIAA1467,KIAA1551,KIF21A,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LAG3,LALBA,LARP4,LDHB,LEPREL2,LETMD1,LIMA1,LINC00477,LINC00592,LINC00612,LMBR1L,LMO3,LOC100240734,LOC100240735,LOC100287314,LOC100335030,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100652999,LOC101055625,LOC255411,LOC283332,LOC283335,LOC283403,LOC338817,LOC374443,LOC389634,LOC400027,LOC400043,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRMP,LRP6,LRRC23,LRRK2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MAP3K12,MCRS1,MED21,METTL20,METTL7A,MFAP5,MFSD5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR1291,MIR1293,MIR141,MIR196A2,MIR200C,MIR3198-2,MIR3974,MIR4302,MIR4698,MIR4701,MIR613,MIR614,MIR615,MIR920,MLF2,MLL2,MRPL51,MRPS35,NANOG,NANOGNB,NCAPD2,NCKAP5L,NECAP1,NELL2,NOP2,NPFF,NR4A1,NTF3,OLR1,OR10AD1,OR8S1,OVCH1,PCBP2,PCED1B,PCED1B-AS1,PDE3A,PDE6H,PDZRN4,PEX5,PFDN5,PFKM,PHB2,PHC1,PIANP,PIK3C2G,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,POU5F1P3,POU6F1,PPFIBP1,PPHLN1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRKAG1,PRPF40B,PRPH,PRR13,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PUS7L,PYROXD1,PZP,RACGAP1,RACGAP1P,RAPGEF3,RARG,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RHEBL1,RIMKLB,RND1,RNU6-19,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL13P5,SCAF11,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SENP1,SKP1P2,SLC11A2,SLC15A5,SLC2A13,SLC2A14,SLC2A3,SLC38A1,SLC38A2,SLC38A4,SLC48A1,SLC4A8,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SOAT2,SOX5,SP1,SP7,SPATS2,SPRYD3,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,SYT10,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TENC1,TFCP2,TM7SF3,TMBIM6,TMEM106C,TMEM117,TMEM52B,TMPRSS12,TMTC1,TNFRSF1A,TPI1,TROAP,TSPAN11,TUBA1A,TUBA1B,TUBA1C,TWF1,USP5,VAMP1,VDR,VWF,WBP11,WNT1,WNT10B,YAF2,YARS2,ZCRB1,ZNF384,ZNF641,ZNF705A,ZNF740 chr12 54677310 54685576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPA1,HNRNPA1P10 chr12 54677310 54685576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPA1,HNRNPA1P10 chr12 54677663 54685574 Gain and loss Pancreatic cancer SNP array 17952125 HNRNPA1,HNRNPA1P10 chr1 25468522 25534787 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 25468522 25534812 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 NOT_FOUND chr1 25468522 25535885 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 25468522 25545729 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 25468751 25519541 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 NOT_FOUND chr1 25468980 25519561 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 25468980 25534787 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 54700956 54718486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54700956 54718486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54704791 54717887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 25471567 25529523 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr1 25471567 25529523 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 25471568 25529523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25471568 25529523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54721989 54724272 Gain and loss Pancreatic cancer SNP array 17952125 COPZ1 chr12 54722189 54724271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPZ1 chr12 5473527 5474719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 5473527 5474725 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 5473559 5474725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 5473559 5474725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54760154 54782854 Gain and loss Pancreatic cancer SNP array 17952125 ZNF385A chr12 54760158 54783395 Gain or loss Breast cancer - 20668451 ZNF385A chr12 54760158 54783395 Gain or loss Cancer - 20668451 ZNF385A chr12 54760158 54783395 Gain or loss Lung cancer - 20668451 ZNF385A chr12 54760158 54783395 Gain or loss Ovarian cancer - 20668451 ZNF385A chr12 54760158 54783395 Gain or loss Pancreas cancer - 20668451 ZNF385A chr12 54760158 54783395 Gain or loss Prostate cancer - 20668451 ZNF385A chr12 54760159 54783395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF385A chr12 54760159 54783395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF385A chr12 54763051 54763107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385A chr12 54768593 54774042 Copy number Breast cancer ddPCR 17661082 ZNF385A chr1 25477041 25519561 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 54784670 54793199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGA5,ZNF385A chr12 54784670 54793199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGA5,ZNF385A chr12 54784692 54793353 Gain and loss Pancreatic cancer SNP array 17952125 ITGA5,ZNF385A chr12 54798297 54802545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGA5 chr12 54798297 54802545 Gain and loss Pancreatic cancer SNP array 17952125 ITGA5 chr12 54798297 54802545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGA5 chr12 54808302 54824719 Gain and loss Pancreatic cancer SNP array 17952125 ITGA5 chr12 54808318 54824719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGA5 chr12 54808318 54824719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGA5 chr12 54808320 54824721 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ITGA5 chr12 54814599 54814653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54821367 54821467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54832471 54838027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54832602 54838038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54832602 54838038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54838366 54841633 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 54838367 54841633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54838367 54841633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54838413 54841627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54843034 54869618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTSF1 chr12 54843034 54869618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTSF1 chr12 54843396 54869544 Gain and loss Pancreatic cancer SNP array 17952125 GTSF1 chr12 54860977 54893599 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GTSF1,NCKAP1L chr12 54884555 54901971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCKAP1L chr12 54884555 54901971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP1L chr12 54884555 54902002 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP1L chr12 54900000 56600000 Loss and deletion Multiple myeloma Array CGH 16616336 BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,DCD,DGKA,DNAJC14,ERBB3,ESYT1,GDF11,GLYCAM1,IKZF4,ITGA7,LACRT,METTL7B,MMP19,MUCL1,MYL6,MYL6B,NCKAP1L,NEUROD4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,PA2G4,PDE1B,PMEL,PPP1R1A,RAB5B,RDH5,RNF41,RPL41,RPS26,SARNP,SMARCC2,SUOX,TESPA1,TMEM198B,WIBG,ZC3H10 chr12 54900000 58100000 Amplification or loss Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,B4GALNT1,BAZ2A,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DCD,DCTN2,DDIT3,DGKA,DNAJC14,DTX3,ERBB3,ESYT1,GDF11,GLI1,GLS2,GLYCAM1,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,ITGA7,KIF5A,LACRT,LRP1,MARS,MBD6,METTL7B,MIP,MIR1228,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NDUFA4L2,NEUROD4,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PDE1B,PIP4K2C,PMEL,PPP1R1A,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SDR9C7,SHMT2,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TESPA1,TIMELESS,TMEM194A,TMEM198B,WIBG,ZBTB39,ZC3H10 chr12 54900000 58100000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,B4GALNT1,BAZ2A,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DCD,DCTN2,DDIT3,DGKA,DNAJC14,DTX3,ERBB3,ESYT1,GDF11,GLI1,GLS2,GLYCAM1,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,ITGA7,KIF5A,LACRT,LRP1,MARS,MBD6,METTL7B,MIP,MIR1228,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NCKAP1L,NDUFA4L2,NEUROD4,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PDE1B,PIP4K2C,PMEL,PPP1R1A,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SDR9C7,SHMT2,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TESPA1,TIMELESS,TMEM194A,TMEM198B,WIBG,ZBTB39,ZC3H10 chr1 2549001 2573500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MMEL1,TTC34 chr12 54904410 54909905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCKAP1L chr12 54904410 54909905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP1L chr12 54904418 54909904 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP1L chr12 54910805 54917894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCKAP1L chr12 54910805 54917894 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP1L chr12 54910805 54917894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP1L chr12 54917858 54938410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP1L chr12 54918270 54938427 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP1L chr1 25493242 25493721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54946993 54951015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE1B chr12 54946993 54951015 Gain and loss Pancreatic cancer SNP array 17952125 PDE1B chr12 54946993 54951015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE1B chr12 54948066 54948166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE1B chr12 54951750 54980442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE1B,PPP1R1A chr12 54951750 54980442 Gain and loss Pancreatic cancer SNP array 17952125 PDE1B,PPP1R1A chr12 54951750 54980442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE1B,PPP1R1A chr12 54971221 54971321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE1B chr12 5497301 5560243 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NTF3 chr12 54990483 54996387 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 54990484 54996387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54990484 54996387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 54990484 54996387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 54992813 54992907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 54996984 55014092 Gain or loss Breast cancer - 20668451 GLYCAM1 chr12 54996984 55014092 Gain or loss Cancer - 20668451 GLYCAM1 chr12 54996984 55014092 Gain or loss Lung cancer - 20668451 GLYCAM1 chr12 54996984 55014092 Gain or loss Ovarian cancer - 20668451 GLYCAM1 chr12 54996984 55014092 Gain or loss Pancreas cancer - 20668451 GLYCAM1 chr12 54996984 55014092 Gain or loss Prostate cancer - 20668451 GLYCAM1 chr12 54996988 55014017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLYCAM1 chr12 54996988 55014017 Gain and loss Pancreatic cancer SNP array 17952125 GLYCAM1 chr12 54996988 55014017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLYCAM1 chr12 55018926 55020460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55018926 55020460 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55018926 55020460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55018929 55020461 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 55020092 55020192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55021648 55040176 Gain or loss Breast cancer - 20668451 DCD,LACRT chr12 55021648 55040176 Gain or loss Cancer - 20668451 DCD,LACRT chr12 55021648 55040176 Gain or loss Lung cancer - 20668451 DCD,LACRT chr12 55021648 55040176 Gain or loss Ovarian cancer - 20668451 DCD,LACRT chr12 55021648 55040176 Gain or loss Pancreas cancer - 20668451 DCD,LACRT chr12 55021648 55040176 Gain or loss Prostate cancer - 20668451 DCD,LACRT chr12 55021651 55040176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCD,LACRT chr12 55021651 55040176 Gain and loss Pancreatic cancer SNP array 17952125 DCD,LACRT chr12 55021651 55040176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCD,LACRT chr12 55032440 55032502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55040622 55057759 Gain and loss Pancreatic cancer SNP array 17952125 DCD chr12 55040653 55057759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCD chr12 55040653 55057759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCD chr1 2550411 2555064 Gain and loss Pancreatic cancer SNP array 17952125 MMEL1 chr12 550801 550892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC77 chr12 55091143 55091243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55097177 55129458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55097177 55129458 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55097177 55129458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55106776 55106876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5511474 5511573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55127434 55151948 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 55130151 55134696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55130151 55134696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55131149 55134709 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55148618 55151032 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55148632 55151030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55148632 55151030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55151002 55168448 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 55151004 55168448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55151004 55168448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55151009 55168448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55168242 55168274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55191053 55192443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55200000 112800000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ACACB,ACAD10,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC7,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATXN2,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BEST3,BLOC1S1,BLOC1S1-RDH5,BRAP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf45,C12orf50,C12orf56,C12orf61,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CAND1,CAPS2,CCDC38,CCDC41,CCDC53,CCDC59,CCDC63,CCER1,CCT2,CD63,CDK17,CDK2,CDK4,CEP290,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,CORO1C,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DEPDC4,DGKA,DNAJC14,DPY19L2,DRAM1,DTX3,DUSP6,DYRK2,E2F7,EEA1,EID3,ELK3,EPYC,ERBB3,ERP29,ESYT1,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FGD6,FICD,FLJ41278,FOXN4,FRS2,GALNT4,GAS2L3,GDF11,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GPN3,GPR182,GRIP1,HAL,HCFC2,HECTD4,HELB,HMGA2,HSD17B6,HSP90B1,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,ISCU,ITGA7,KCNC2,KCNMB4,KCTD10,KERA,KIAA1033,KIF5A,KITLG,KRR1,KRT19P2,LEMD3,LGR5,LIN7A,LINC00485,LINC00615,LLPH,LOC100130776,LOC100131138,LOC100287944,LOC100505978,LOC100506844,LOC100507250,LOC100507377,LOC144486,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRIQ1,LTA4H,LUM,LYZ,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,METAP2,METTL1,METTL21B,METTL25,METTL7B,MGAT4C,MIP,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3652,MIR3685,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4497,MIR4699,MIR492,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIRLET7I,MKRN9P,MMAB,MMP19,MON2,MRPL42,MRS2P2,MSRB3,MTERFD3,MUCL1,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NDUFA12,NDUFA4L2,NEDD1,NEUROD4,NFYB,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,OSBPL8,OTOGL,PA2G4,PAH,PAN2,PARPBP,PAWR,PHLDA1,PIP4K2C,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PTGES3,PTPRB,PTPRQ,PTPRR,PWP1,R3HDM2,RAB21,RAB3IP,RAB5B,RAD9B,RAP1B,RASSF3,RASSF9,RBMS2,RDH16,RDH5,RFX4,RIC8B,RMST,RNF41,RPL41,RPS26,RPSAP52,SARNP,SART3,SCYL2,SDR9C7,SELPLG,SH2B3,SHMT2,SLC16A7,SLC17A8,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPRYD4,SRGAP1,SSH1,STAB2,STAC3,STAT2,STAT6,SUOX,SVOP,SYCP3,SYT1,TAC3,TBC1D15,TBC1D30,TBK1,TCHP,TCP11L2,TCTN1,TDG,TESPA1,THAP2,TIMELESS,TMBIM4,TMCC3,TMEM116,TMEM119,TMEM19,TMEM194A,TMEM198B,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBE2N,UBE3B,UHRF1BP1L,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,WIBG,WIF1,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZDHHC17,ZFC3H1 chr12 55200000 56300000 Amplification Urothelial cell carcinoma FISH 18451213 BLOC1S1,BLOC1S1-RDH5,CD63,DNAJC14,GDF11,ITGA7,METTL7B,MMP19,MUCL1,NEUROD4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,RDH5,SARNP,TESPA1,TMEM198B,WIBG chr12 55200000 61400000 Amplification Urothelial cell carcinoma FISH 18451213 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DNAJC14,DTX3,ERBB3,ESYT1,GDF11,GLI1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,ITGA7,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,METTL7B,MIP,MIR1228,MIR26A2,MMP19,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NEUROD4,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TESPA1,TIMELESS,TMEM194A,TMEM198B,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10 chr12 55201993 55269875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MUCL1 chr12 55201993 55269875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUCL1 chr12 55202067 55269656 Gain and loss Pancreatic cancer SNP array 17952125 MUCL1 chr12 55235826 56844549 LOH Normal High-resolution SNP genotyping 21211785 ANKRD52,APOF,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GDF11,IKZF4,IL23A,ITGA7,METTL7B,MIP,MMP19,MUCL1,MYL6,MYL6B,NABP2,NEUROD4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,PA2G4,PAN2,PMEL,RAB5B,RDH5,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,STAT2,SUOX,TESPA1,TIMELESS,TMEM198B,WIBG,ZC3H10 chr12 55268137 55268175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55268569 55268670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55268569 55268672 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55268569 55268672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55272081 55274842 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55275647 55316430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55275647 55316430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55275941 55276312 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 55278420 55297581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55293898 55933612 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 NEUROD4,OR10A7,OR6C1,OR6C2,OR6C3,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,TESPA1 chr12 55307320 55307420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55318230 55326119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55318230 55326119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55318230 55326119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55323731 55323801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55323731 55323801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55325078 55325152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55325078 55325152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55343403 55368156 Gain and loss Pancreatic cancer SNP array 17952125 TESPA1 chr12 55343541 55346261 Gain Autism 1M Ailent CGH whole-genome array 21865298 TESPA1 chr12 55343649 55368213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TESPA1 chr12 55343649 55368213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESPA1 chr1 25534592 25535931 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 55348927 58687499 Gain Glioblastoma multiforme 244K oligo array 21138945 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DNAJC14,DTX3,ERBB3,ESYT1,GDF11,GLI1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,ITGA7,KIF5A,LOC100130776,LOC100506844,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,METTL7B,MIP,MIR1228,MIR26A2,MMP19,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NEUROD4,NXPH4,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RDH5,RNF41,RPL41,RPS26,SARNP,SDR9C7,SHMT2,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TESPA1,TIMELESS,TMEM194A,TMEM198B,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10 chr12 55350501 55350797 Gain and loss Pancreatic cancer SNP array 17952125 TESPA1 chr12 55350501 55350797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESPA1 chr12 55352352 55352442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TESPA1 chr12 55354151 55354244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TESPA1 chr1 25537398 25561437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYF2 chr1 25537398 25561437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYF2 chr12 55380832 55405350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55380832 55405350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55392484 55407248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55392486 55405318 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr12 55409326 55432413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEUROD4 chr12 55409326 55432413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEUROD4 chr12 55411637 55432413 Gain and loss Pancreatic cancer SNP array 17952125 NEUROD4 chr12 55412146 55820737 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NEUROD4,OR10A7,OR6C1,OR6C3,OR6C6,OR6C65,OR6C74,OR6C75,OR6C76,OR9K2 chr12 55412146 55820737 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NEUROD4,OR10A7,OR6C1,OR6C3,OR6C6,OR6C65,OR6C74,OR6C75,OR6C76,OR9K2 chr12 5542081 5925659 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANO2,NTF3 chr12 5542081 5925659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO2,NTF3 chr12 5542081 5925659 Gain and loss Pancreatic cancer SNP array 17952125 ANO2,NTF3 chr12 5542081 5925659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO2,NTF3 chr12 55437999 55438092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55443375 55467841 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55443375 55467841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55443375 55467841 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55443375 55467841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25545741 25560174 Gain Normal Birdsuite, version 1.5.2 22087296 SYF2 chr1 2554591 2596591 Gain and loss Pancreatic cancer SNP array 17952125 MMEL1,TTC34 chr12 5549726 5712102 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANO2,NTF3 chr12 55499556 55499800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55503054 55503475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55519756 56776269 LOH Normal High-resolution SNP genotyping 21211785 ANKRD52,APOF,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GDF11,IKZF4,IL23A,ITGA7,METTL7B,MMP19,MYL6,MYL6B,NABP2,OR10A7,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR9K2,ORMDL2,PA2G4,PAN2,PMEL,RAB5B,RDH5,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,STAT2,SUOX,TMEM198B,WIBG,ZC3H10 chr12 55524088 55524188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OR9K2 chr12 55541426 55541559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55541426 55541559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55553352 55553384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2555991 2556442 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MMEL1 chr12 55603205 55614456 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55603205 55614456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55603205 55614456 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55603205 55614456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25561328 25629270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf63,RHD chr1 25561328 25629270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf63,RHD chr12 55621748 55661892 Loss Normal Birdsuite, version 1.5.2 22087296 OR6C74 chr12 55627899 56288135 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 BLOC1S1,BLOC1S1-RDH5,CD63,DNAJC14,GDF11,ITGA7,METTL7B,MMP19,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,ORMDL2,RDH5,SARNP,TMEM198B chr12 55631485 55637685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55631485 55637685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55631489 55667032 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR6C74 chr12 55632044 55637649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55665953 56818272 LOH Normal High-resolution SNP genotyping 21211785 ANKRD52,APOF,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GDF11,IKZF4,IL23A,ITGA7,METTL7B,MMP19,MYL6,MYL6B,NABP2,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C75,OR6C76,ORMDL2,PA2G4,PAN2,PMEL,RAB5B,RDH5,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,STAT2,SUOX,TIMELESS,TMEM198B,WIBG,ZC3H10 chr12 55674497 55676735 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55674497 55676735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55674497 55676735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55674497 55676735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55674621 55676736 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 55674621 55676736 Gain or loss Cancer - 20668451 NOT_FOUND chr12 55674621 55676736 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 55674621 55676736 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 55674621 55676736 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 55674621 55676736 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 55677012 55677602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55677012 55677602 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55678885 55686497 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55678885 55686497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55678885 55686497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55678885 55686497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55689927 55690215 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 55690053 55696592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55690053 55696592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55690053 55696592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55690053 55696592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55708569 55730160 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR6C1,OR6C3 chr12 55708569 55730160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR6C1,OR6C3 chr12 55708569 55730160 Gain and loss Pancreatic cancer SNP array 17952125 OR6C1,OR6C3 chr12 55708569 55730160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR6C1,OR6C3 chr12 55710216 55722973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR6C1 chr1 25572582 25595837 Gain Normal Birdsuite, version 1.5.2 22087296 C1orf63 chr12 5572706 6768721 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACRBP,ANO2,CD27,CD27-AS1,CD9,CHD4,GAPDH,IFFO1,ING4,LPAR5,LTBR,MRPL51,NCAPD2,NOP2,NTF3,PLEKHG6,SCARNA10,SCARNA11,SCNN1A,TAPBPL,TNFRSF1A,VAMP1,VWF chr1 25573283 25577629 Gain and loss Pancreatic cancer SNP array 17952125 C1orf63 chr12 55735698 55758819 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55735698 55758819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55735698 55758819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55735698 55758819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55738857 57036608 LOH Normal High-resolution SNP genotyping 21211785 ANKRD52,APOF,ATP5B,BAZ2A,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GDF11,GLS2,IKZF4,IL23A,ITGA7,METTL7B,MIP,MMP19,MYL6,MYL6B,NABP2,OR10P1,OR2AP1,OR6C2,OR6C4,OR6C65,OR6C68,OR6C70,OR6C75,OR6C76,ORMDL2,PA2G4,PAN2,PMEL,RAB5B,RBMS2,RDH5,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,SPRYD4,STAT2,SUOX,TIMELESS,TMEM198B,WIBG,ZC3H10 chr12 55768944 55775525 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55768944 55775525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55768944 55775525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55769157 55775525 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 5577216 5728311 Copy number Lung cancer paired-end sequencing 18438408 ANO2,NTF3 chr12 55775459 55809150 Gain or loss Breast cancer - 20668451 OR6C65 chr12 55775459 55809150 Gain or loss Cancer - 20668451 OR6C65 chr12 55775459 55809150 Gain or loss Lung cancer - 20668451 OR6C65 chr12 55775459 55809150 Gain or loss Ovarian cancer - 20668451 OR6C65 chr12 55775459 55809150 Gain or loss Pancreas cancer - 20668451 OR6C65 chr12 55775459 55809150 Gain or loss Prostate cancer - 20668451 OR6C65 chr12 55775462 55791428 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55775462 55791428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55775462 55791428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55775462 55791428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55777065 55777165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55786267 55786341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55808543 55893390 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR6C2,OR6C68,OR6C70,OR6C76 chr12 55808543 55893390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR6C2,OR6C68,OR6C70,OR6C76 chr12 55808543 55893390 Gain and loss Pancreatic cancer SNP array 17952125 OR6C2,OR6C68,OR6C70,OR6C76 chr12 55808543 55893390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR6C2,OR6C68,OR6C70,OR6C76 chr12 55820000 57257000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 ANKRD52,APOF,ATP5B,BAZ2A,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GDF11,GLS2,HSD17B6,IKZF4,IL23A,ITGA7,METTL7B,MIP,MMP19,MYL6,MYL6B,NABP2,NACA,OR10P1,OR2AP1,OR6C2,OR6C4,OR6C68,OR6C70,OR6C76,ORMDL2,PA2G4,PAN2,PMEL,PRIM1,PTGES3,RAB5B,RBMS2,RDH5,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAT2,SUOX,TIMELESS,TMEM198B,WIBG,ZC3H10 chr12 55830444 55830540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55833327 56846395 LOH Normal High-resolution SNP genotyping 21211785 ANKRD52,APOF,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GDF11,IKZF4,IL23A,ITGA7,METTL7B,MIP,MMP19,MYL6,MYL6B,NABP2,OR10P1,OR2AP1,OR6C2,OR6C4,OR6C68,OR6C70,ORMDL2,PA2G4,PAN2,PMEL,RAB5B,RDH5,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,STAT2,SUOX,TIMELESS,TMEM198B,WIBG,ZC3H10 chr12 55834244 55834413 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 55842342 55842382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55853001 55924500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR6C68,OR6C70 chr12 55866674 55896055 Duplication Oligozoospermia Array-CGH 20877625 OR6C68 chr12 55874554 55874626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55896845 55906493 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55896845 55906493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55896845 55906493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55896886 55906498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55902280 55923860 Deletion Attention deficit hyperactivity disorder - 22138692 NOT_FOUND chr12 55908024 55908145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55908024 55908146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55908024 55908147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55909761 55914981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55909786 55914981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55909786 55914981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55909819 55914981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55914955 55920794 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55914955 55920794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55914955 55920794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55914955 55920794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55923509 55931236 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 55923509 55931236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55923509 55931236 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 55923509 55931236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 55933612 56297490 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 BLOC1S1,BLOC1S1-RDH5,CD63,DNAJC14,GDF11,ITGA7,METTL7B,MMP19,OR10P1,OR2AP1,OR6C4,ORMDL2,RDH5,SARNP,TMEM198B,WIBG chr12 55933814 56111055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S1,BLOC1S1-RDH5,ITGA7,METTL7B,OR10P1,OR2AP1,OR6C4 chr12 55933814 56111055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S1,BLOC1S1-RDH5,ITGA7,METTL7B,OR10P1,OR2AP1,OR6C4 chr12 55933815 56111055 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BLOC1S1,BLOC1S1-RDH5,ITGA7,METTL7B,OR10P1,OR2AP1,OR6C4 chr12 55933815 56111055 Gain and loss Pancreatic cancer SNP array 17952125 BLOC1S1,BLOC1S1-RDH5,ITGA7,METTL7B,OR10P1,OR2AP1,OR6C4 chr12 55953844 55953944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 55957687 55958687 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 55974495 55975495 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 25597790 25598430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25598247 25881984 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LDLRAP1,RHCE,RHD,TMEM50A,TMEM57 chr12 55988628 55989628 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 55988642 55988642 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 56001140 56032327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR10P1 chr12 56005505 56095864 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ITGA7,METTL7B,OR10P1 chr12 56024754 56057419 Amplification Normal Standard peel-off 21527027 OR10P1 chr12 56035582 56057419 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr1 25605001 25608500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RHD chr12 56074829 56075829 Gain Osteosarcoma References 21215367 METTL7B chr12 56087528 56116513 Gain and loss Pancreatic cancer SNP array 17952125 BLOC1S1,BLOC1S1-RDH5,ITGA7,RDH5 chr12 56095346 56095447 Gain and loss Pancreatic cancer SNP array 17952125 ITGA7 chr12 56095346 56095449 Gain and loss Pancreatic cancer SNP array 17952125 ITGA7 chr12 56095346 56095453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGA7 chr12 56096465 56096803 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGA7 chr12 56096465 56096803 Gain and loss Pancreatic cancer SNP array 17952125 ITGA7 chr12 56097914 56851736 Amplification Glioblastoma multiforme Array CGH 19115005 ANKRD52,APOF,BLOC1S1,BLOC1S1-RDH5,CD63,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GDF11,IKZF4,IL23A,ITGA7,MIP,MMP19,MYL6,MYL6B,NABP2,ORMDL2,PA2G4,PAN2,PMEL,RAB5B,RDH5,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,STAT2,SUOX,TIMELESS,TMEM198B,WIBG,ZC3H10 chr12 56100125 56100218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA7 chr12 56102312 56102391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA7 chr12 56104240 56149285 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BLOC1S1,BLOC1S1-RDH5,CD63,GDF11,ITGA7,RDH5,SARNP chr12 56114810 56130876 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BLOC1S1-RDH5,CD63,RDH5 chr12 56114810 56130876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S1-RDH5,CD63,RDH5 chr12 56114810 56130876 Gain and loss Pancreatic cancer SNP array 17952125 BLOC1S1-RDH5,CD63,RDH5 chr12 56114810 56130876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S1-RDH5,CD63,RDH5 chr12 56116000 56288135 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BLOC1S1-RDH5,CD63,DNAJC14,GDF11,MMP19,ORMDL2,RDH5,SARNP,TMEM198B chr12 56135363 56138056 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GDF11 chr12 56135363 56138056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDF11 chr12 56135363 56138056 Gain and loss Pancreatic cancer SNP array 17952125 GDF11 chr12 56135363 56138056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDF11 chr12 56139985 56156533 Copy number gain Normal High-resolution SNP genotyping 21211785 GDF11,SARNP chr12 56140200 56152312 Amplified Liposarcoma FISH, CGH 21253554 GDF11,SARNP chr12 56140201 56152312 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GDF11,SARNP chr12 56140201 56152312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDF11,SARNP chr12 56140201 56152312 Gain and loss Pancreatic cancer SNP array 17952125 GDF11,SARNP chr12 56140201 56152312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDF11,SARNP chr12 56152304 182164289 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 56152304 182164289 Copy number Lung cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 56152304 182164289 Gain or loss Breast cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 56152304 182164289 Gain or loss Cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 56152304 182164289 Gain or loss Lung cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 56152304 182164289 Gain or loss Ovarian cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 56152304 182164289 Gain or loss Pancreas cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 56152304 182164289 Gain or loss Prostate cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX51,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DNAJC14,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100130776,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MMP19,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,ORMDL2,OS9,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PIP4K2C,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SARNP,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SHMT2,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA49,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,STX2,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM194A,TMEM198B,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 56152304 56159900 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SARNP chr12 56152305 56168864 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SARNP chr12 56152305 56168864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56152305 56168864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56152314 56160897 Gain and loss Pancreatic cancer SNP array 17952125 SARNP chr12 56154828 56156477 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SARNP chr12 56156533 57827437 LOH Normal High-resolution SNP genotyping 21211785 ANKRD52,APOF,ATP5B,BAZ2A,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,LRP1,MIP,MIR1228,MMP19,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,ORMDL2,PA2G4,PAN2,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RNF41,RPL41,RPS26,SARNP,SDR9C7,SHMT2,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TIMELESS,TMEM194A,TMEM198B,WIBG,ZBTB39,ZC3H10 chr12 56159831 56168484 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SARNP chr12 56167344 56196701 Gain and loss Pancreatic cancer SNP array 17952125 SARNP chr12 56168117 56196700 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SARNP chr12 56168118 56196700 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SARNP chr12 56168118 56196700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56168118 56196700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56173116 56173148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SARNP chr12 56191853 56212013 Amplification Normal Standard peel-off 21527027 ORMDL2,SARNP chr12 56194980 56212013 Amplification Normal Arbitrated Peel-off 21527027 ORMDL2,SARNP chr12 56196637 56200567 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SARNP chr12 56196637 56200567 Copy number Lung cancer - 20668451 SARNP chr12 56196637 56200567 Gain or loss Breast cancer - 20668451 SARNP chr12 56196637 56200567 Gain or loss Cancer - 20668451 SARNP chr12 56196637 56200567 Gain or loss Lung cancer - 20668451 SARNP chr12 56196637 56200567 Gain or loss Ovarian cancer - 20668451 SARNP chr12 56196637 56200567 Gain or loss Pancreas cancer - 20668451 SARNP chr12 56196637 56200567 Gain or loss Prostate cancer - 20668451 SARNP chr12 56196640 56200567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SARNP chr12 56196640 56200567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56196640 56200567 Gain and loss Pancreatic cancer SNP array 17952125 SARNP chr12 56196640 56200567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56196860 56197456 Amplification or deletion Cancer Array CGH 17440070 SARNP chr12 56199213 56199309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56200000 57240000 Gain Breast cancer aCGH 21509527 ANKRD52,APOF,ATP5B,BAZ2A,CDK2,CNPY2,COQ10A,CS,DGKA,DNAJC14,ERBB3,ESYT1,GLS2,HSD17B6,IKZF4,IL23A,MIP,MMP19,MYL6,MYL6B,NABP2,NACA,ORMDL2,PA2G4,PAN2,PMEL,PRIM1,PTGES3,RAB5B,RBMS2,RNF41,RPL41,RPS26,SARNP,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAT2,SUOX,TIMELESS,TMEM198B,WIBG,ZC3H10 chr12 56202892 56210198 Gain and loss Pancreatic cancer SNP array 17952125 SARNP chr12 56202926 56210198 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SARNP chr12 56202926 56210198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56202926 56210198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SARNP chr12 56206732 56237989 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAJC14,MMP19,ORMDL2,SARNP,TMEM198B chr12 56210202 56227259 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC14,ORMDL2,SARNP,TMEM198B chr12 56210361 56227245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC14,ORMDL2,SARNP,TMEM198B chr12 56210361 56227245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC14,ORMDL2,SARNP,TMEM198B chr12 56210361 56227259 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAJC14,ORMDL2,SARNP,TMEM198B chr12 56214534 56249804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAJC14,MMP19,ORMDL2,TMEM198B chr12 56215461 56215645 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DNAJC14 chr12 56230000 56540000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 CDK2,DGKA,ERBB3,ESYT1,IKZF4,MMP19,PA2G4,PMEL,RAB5B,RPL41,RPS26,SUOX,TMEM198B,WIBG,ZC3H10 chr12 56230113 56264821 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MMP19 chr12 56230114 56264821 Gain and loss Pancreatic cancer SNP array 17952125 MMP19 chr12 56230289 56266682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MMP19 chr12 56230289 56266682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMP19 chr12 56230289 56266682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP19 chr12 56233854 56234854 Loss Osteosarcoma References 21215367 MMP19 chr12 56238353 126053006 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ41278,FOXN4,FRS2,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GPN3,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00615,LLPH,LOC100130776,LOC100131138,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507250,LOC100507377,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PHLDA1,PIP4K2C,PITPNM2,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SH2B3,SHMT2,SIRT4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM19,TMEM194A,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 56238353 126053006 Copy number gain Normal High-resolution SNP genotyping 21211785 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,AGAP2,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP5B,ATP6V0A2,ATXN2,ATXN7L3B,AVIL,AVPR1A,B3GNT4,B4GALNT1,BAZ2A,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2,CDK2AP1,CDK4,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,CNPY2,COQ10A,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CUX2,CYP27B1,DAO,DCN,DCTN2,DDIT3,DDX54,DDX55,DENR,DEPDC4,DGKA,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DTX3,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERBB3,ERP29,ESYT1,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ41278,FOXN4,FRS2,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GPN3,GPR182,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSD17B6,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,IL31,INHBC,INHBE,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KIF5A,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00615,LLPH,LOC100130776,LOC100131138,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507250,LOC100507377,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRP1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MARCH9,MARS,MBD6,MDM1,MDM2,MED13L,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1178,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYL6,MYL6B,MYO1A,MYO1H,NAA25,NAB2,NABP2,NACA,NAP1L1,NAV3,NCOR2,NDUFA12,NDUFA4L2,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OS9,OSBPL8,OTOGL,P2RX4,P2RX7,PA2G4,PAH,PAN2,PARPBP,PAWR,PEBP1,PHLDA1,PIP4K2C,PITPNM2,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRIM1,PRKAB1,PSMD9,PTGES3,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,R3HDM2,RAB21,RAB35,RAB3IP,RAB5B,RAD9B,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RBMS2,RDH16,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RMST,RNF10,RNF34,RNF41,RNFT2,RPH3A,RPL41,RPL6,RPLP0,RPS26,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDR9C7,SDS,SDSL,SELPLG,SETD1B,SETD8,SH2B3,SHMT2,SIRT4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SPRYD4,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STAC3,STAT2,STAT6,SUDS3,SUOX,SVOP,SYCP3,SYT1,TAC3,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TIMELESS,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM19,TMEM194A,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIBG,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 56243636 56243701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 56252816 56280075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 56263000 69037000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CAND1,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,DYRK2,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KIF5A,LEMD3,LLPH,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,MDM1,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RAP1B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORA70G,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMBIM4,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56264881 56266674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 2562667 2566862 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MMEL1 chr1 2562667 2566862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMEL1 chr1 2562667 2566862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMEL1 chr12 56270764 56846395 LOH Normal High-resolution SNP genotyping 21211785 ANKRD52,APOF,CDK2,CNPY2,COQ10A,CS,DGKA,ERBB3,ESYT1,IKZF4,IL23A,MIP,MYL6,MYL6B,NABP2,PA2G4,PAN2,PMEL,RAB5B,RNF41,RPL41,RPS26,SLC39A5,SMARCC2,STAT2,SUOX,TIMELESS,WIBG,ZC3H10 chr12 56271253 56283465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 56271324 56283296 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 56271340 56283465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56271340 56283465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 25628105 25795078 Gain and loss Pancreatic cancer SNP array 17952125 RHCE,RHD,TMEM50A,TMEM57 chr12 56284870 56289850 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 NOT_FOUND chr12 56284870 56289850 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 56284870 56289850 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 56284870 56289850 Gain or loss Cancer - 20668451 NOT_FOUND chr12 56284870 56289850 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 56284870 56289850 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 56284870 56289850 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 56284870 56289850 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 56284871 56289850 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 56284871 56289850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56284871 56289850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56284871 56289853 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 56290230 56306200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIBG chr12 56290230 56306200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIBG chr12 56290368 56306200 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WIBG chr12 56290368 56306200 Gain and loss Pancreatic cancer SNP array 17952125 WIBG chr12 56299959 56306201 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 WIBG chr12 56300000 107500000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ACSS3,ACTR6,AGAP2,ALDH1L2,ALX1,AMDHD1,ANKRD52,ANKS1B,ANO4,APAF1,APOF,APPL2,ARHGAP9,ARHGEF25,ARL1,ASCL1,ATP2B1,ATP5B,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BEST3,BTG1,C12orf23,C12orf29,C12orf42,C12orf45,C12orf50,C12orf56,C12orf61,C12orf66,C12orf73,C12orf74,C12orf75,CAND1,CAPS2,CCDC38,CCDC41,CCDC53,CCDC59,CCER1,CCT2,CDK17,CDK2,CDK4,CEP290,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CNOT2,CNPY2,COQ10A,CPM,CPSF6,CRADD,CRY1,CS,CSRP2,CTDSP2,CYP27B1,DCN,DCTN2,DDIT3,DEPDC4,DGKA,DPY19L2,DRAM1,DTX3,DUSP6,DYRK2,E2F7,EEA1,EID3,ELK3,EPYC,ERBB3,ESYT1,FAM19A2,FAM71C,FGD6,FLJ41278,FRS2,GALNT4,GAS2L3,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GLT8D2,GNN,GNPTAB,GNS,GOLGA2P5,GPR182,GRIP1,HAL,HCFC2,HELB,HMGA2,HSD17B6,HSP90B1,IFNG,IGF1,IKBIP,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KCNC2,KCNMB4,KERA,KIAA1033,KIF5A,KITLG,KRR1,KRT19P2,LEMD3,LGR5,LIN7A,LINC00485,LINC00615,LLPH,LOC100130776,LOC100287944,LOC100505978,LOC100506844,LOC100507250,LOC100507377,LOC144486,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LRIG3,LRP1,LRRC10,LRRIQ1,LTA4H,LUM,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1228,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR26A2,MIR331,MIR3652,MIR3685,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4699,MIR492,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIRLET7I,MKRN9P,MON2,MRPL42,MRS2P2,MSRB3,MTERFD3,MYBPC1,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NDUFA12,NDUFA4L2,NEDD1,NFYB,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,NXPH4,OS9,OSBPL8,OTOGL,PA2G4,PAH,PAN2,PARPBP,PAWR,PHLDA1,PIP4K2C,PLEKHG7,PLXNC1,PMCH,PMEL,POC1B,POC1B-GALNT4,POLR3B,PPFIA2,PPM1H,PPP1R12A,PRIM1,PTGES3,PTPRB,PTPRQ,PTPRR,R3HDM2,RAB21,RAB3IP,RAB5B,RAP1B,RASSF3,RASSF9,RBMS2,RDH16,RFX4,RIC8B,RMST,RNF41,RPL41,RPS26,RPSAP52,SCYL2,SDR9C7,SHMT2,SLC16A7,SLC17A8,SLC25A3,SLC26A10,SLC35E3,SLC39A5,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SMARCC2,SNORA53,SNORA70G,SNORD59A,SNORD59B,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPRYD4,SRGAP1,STAB2,STAC3,STAT2,STAT6,SUOX,SYCP3,SYT1,TAC3,TBC1D15,TBC1D30,TBK1,TCP11L2,TDG,THAP2,TIMELESS,TMBIM4,TMCC3,TMEM19,TMEM194A,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSFM,TSPAN19,TSPAN31,TSPAN8,TXNRD1,UBE2N,UHRF1BP1L,USP15,USP44,UTP20,VEZT,WIBG,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZDHHC17,ZFC3H1 chr12 56300000 61400000 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DTX3,ERBB3,ESYT1,GLI1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 61400000 Amplification Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DTX3,ERBB3,ESYT1,GLI1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 61400000 Amplification Normal - 22101487 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DTX3,ERBB3,ESYT1,GLI1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 61400000 Amplification Urothelial cell carcinoma FISH 18451213 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DTX3,ERBB3,ESYT1,GLI1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 61400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DTX3,ERBB3,ESYT1,GLI1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 61400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DTX3,ERBB3,ESYT1,GLI1,GLS2,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PRIM1,PTGES3,R3HDM2,RAB5B,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,SUOX,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,WIBG,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Amplification Phyllodes tumor CGH 17334353 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Copy number Breast cancer Affymetrix 16272173 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Copy number Glaucoma Affymetrix 500K two-chip SNP array 21310917 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Deletion Mental retardation References 19951919 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Deletion Normal - 21701786 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Duplication Glaucoma array CGH 21447600 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Microdeletion 12q14 microdeletion syndrome array-CGH 21267005 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Microdeletion Developmental delay Agilent array-CGH 244K 19277063 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 66000000 Microdeletion Dwarfism Agilent array-CGH 244K 19277063 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK2,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,HSD17B6,IKZF4,IL23A,INHBC,INHBE,KIF5A,LEMD3,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56300000 69800000 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CAND1,CDK2,CDK4,CNPY2,COQ10A,CPM,CPSF6,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,DYRK2,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KIF5A,LEMD3,LLPH,LOC100130776,LOC100506844,LOC100507250,LRIG3,LRP1,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METTL1,METTL21B,MIP,MIR1228,MIR1279,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NUP107,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RAP1B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC39A5,SMARCC2,SNORA70G,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMBIM4,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10 chr12 56300000 69800000 Rearrangement Fibroblasts Affymetrix GeneChip, quantitative real-time PCR 20926602 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CAND1,CDK2,CDK4,CNPY2,COQ10A,CPM,CPSF6,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,DYRK2,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KIF5A,LEMD3,LLPH,LOC100130776,LOC100506844,LOC100507250,LRIG3,LRP1,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METTL1,METTL21B,MIP,MIR1228,MIR1279,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NUP107,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,R3HDM2,RAB5B,RAP1B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC39A5,SMARCC2,SNORA70G,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,TIMELESS,TMBIM4,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIBG,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10 chr12 56300000 94800000 Loss Metanephric adenoma Oligo aCGH 20802469 ACSS3,AGAP2,ALX1,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP2B1,ATP5B,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BEST3,BTG1,C12orf29,C12orf50,C12orf56,C12orf61,C12orf66,C12orf74,CAND1,CAPS2,CCDC41,CCDC59,CCER1,CCT2,CDK2,CDK4,CEP290,CLLU1,CLLU1OS,CNOT2,CNPY2,COQ10A,CPM,CPSF6,CRADD,CS,CSRP2,CTDSP2,CYP27B1,DCN,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,DUSP6,DYRK2,E2F7,EEA1,EPYC,ERBB3,ESYT1,FAM19A2,FLJ41278,FRS2,GALNT4,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KCNC2,KCNMB4,KERA,KIF5A,KITLG,KRR1,LEMD3,LGR5,LIN7A,LINC00615,LLPH,LOC100130776,LOC100506844,LOC100507250,LOC100507377,LOC256021,LOC338758,LOC643339,LOC728084,LRIG3,LRP1,LRRC10,LRRIQ1,LUM,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1228,MIR1252,MIR1279,MIR26A2,MIR3913-1,MIR3913-2,MIR4699,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR617,MIR618,MIRLET7I,MKRN9P,MON2,MRPL42,MRS2P2,MSRB3,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NDUFA4L2,NTS,NUDT4,NUDT4P1,NUP107,NXPH4,OS9,OSBPL8,OTOGL,PA2G4,PAN2,PAWR,PHLDA1,PIP4K2C,PLEKHG7,PLXNC1,PMEL,POC1B,POC1B-GALNT4,PPFIA2,PPM1H,PPP1R12A,PRIM1,PTGES3,PTPRB,PTPRQ,PTPRR,R3HDM2,RAB21,RAB3IP,RAB5B,RAP1B,RASSF3,RASSF9,RBMS2,RDH16,RNF41,RPL41,RPS26,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC39A5,SLC6A15,SMARCC2,SNORA70G,SNORD59A,SNORD59B,SOCS2,SOCS2-AS1,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,SYT1,TAC3,TBC1D15,TBC1D30,TBK1,THAP2,TIMELESS,TMBIM4,TMEM19,TMEM194A,TMEM5,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSFM,TSPAN19,TSPAN31,TSPAN8,UBE2N,USP15,WIBG,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZDHHC17,ZFC3H1 chr1 25630006 25698515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHCE,RHD,TMEM50A chr1 25630006 25698515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHCE,RHD,TMEM50A chr12 56305817 56313252 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 WIBG chr12 56305818 56313252 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WIBG chr12 56305818 56313252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIBG chr12 56305818 56313252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIBG chr12 56305945 56313251 Gain and loss Pancreatic cancer SNP array 17952125 WIBG chr12 56312801 56317200 Deletion Glioma mate-paired sequence 20126413 WIBG chr12 56314295 56315517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WIBG chr12 56314371 56315233 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 WIBG chr12 56316123 56317123 Gain Osteosarcoma References 21215367 WIBG chr12 56316396 72147648 Amplification Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BEST3,C12orf56,C12orf61,C12orf66,CAND1,CCT2,CDK2,CDK4,CNOT2,CNPY2,COQ10A,CPM,CPSF6,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,DYRK2,ERBB3,ESYT1,FAM19A2,FLJ41278,FRS2,GLI1,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KCNMB4,KIF5A,LEMD3,LGR5,LLPH,LOC100130776,LOC100506844,LOC100507250,LRIG3,LRP1,LRRC10,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METTL1,METTL21B,MIP,MIR1228,MIR1279,MIR26A2,MIR3913-1,MIR3913-2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NUP107,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,PTPRB,PTPRR,R3HDM2,RAB3IP,RAB5B,RAP1B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC39A5,SMARCC2,SNORA70G,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,THAP2,TIMELESS,TMBIM4,TMEM19,TMEM194A,TMEM5,TSFM,TSPAN31,TSPAN8,USP15,WIBG,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZFC3H1 chr12 56316396 72147648 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BEST3,C12orf56,C12orf61,C12orf66,CAND1,CCT2,CDK2,CDK4,CNOT2,CNPY2,COQ10A,CPM,CPSF6,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DGKA,DPY19L2,DTX3,DYRK2,ERBB3,ESYT1,FAM19A2,FLJ41278,FRS2,GLI1,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IKZF4,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KCNMB4,KIF5A,LEMD3,LGR5,LLPH,LOC100130776,LOC100506844,LOC100507250,LRIG3,LRP1,LRRC10,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METTL1,METTL21B,MIP,MIR1228,MIR1279,MIR26A2,MIR3913-1,MIR3913-2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NUP107,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PMEL,PPM1H,PRIM1,PTGES3,PTPRB,PTPRR,R3HDM2,RAB3IP,RAB5B,RAP1B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPS26,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC39A5,SMARCC2,SNORA70G,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SUOX,TAC3,TBC1D30,TBK1,THAP2,TIMELESS,TMBIM4,TMEM19,TMEM194A,TMEM5,TSFM,TSPAN31,TSPAN8,USP15,WIBG,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZFC3H1 chr12 56327536 56327636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGKA chr12 56338156 57079260 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD52,APOF,ATP5B,BAZ2A,CDK2,CNPY2,COQ10A,CS,DGKA,ERBB3,ESYT1,GLS2,IKZF4,IL23A,MIP,MYL6,MYL6B,NABP2,PA2G4,PAN2,PMEL,PTGES3,RAB5B,RBMS2,RNF41,RPL41,RPS26,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,STAT2,SUOX,TIMELESS,ZC3H10 chr12 56354715 56355132 Gain and loss Pancreatic cancer SNP array 17952125 PMEL chr12 56368401 56596100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERBB3,ESYT1,IKZF4,MYL6,MYL6B,PA2G4,RAB5B,RPL41,RPS26,SMARCC2,SUOX,ZC3H10 chr12 56374152 56401607 Amplified Liposarcoma FISH, CGH 21253554 RAB5B,SUOX chr12 56374153 56401605 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAB5B,SUOX chr12 56374153 56401605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB5B,SUOX chr12 56374153 56401605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB5B,SUOX chr12 56374171 56401605 Gain and loss Pancreatic cancer SNP array 17952125 RAB5B,SUOX chr12 56405251 56422209 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IKZF4 chr12 56405251 56422209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF4 chr12 56405251 56422209 Gain and loss Pancreatic cancer SNP array 17952125 IKZF4 chr12 56405251 56422209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF4 chr12 56405260 56422207 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 IKZF4 chr12 56411663 56442647 Amplification Normal Arbitrated Peel-off 21527027 IKZF4,RPS26 chr12 56411663 56442647 Amplification Normal Standard peel-off 21527027 IKZF4,RPS26 chr12 56411706 56441488 Amplification Normal GISTIC2.0 21527027 IKZF4,RPS26 chr12 56419524 56488685 Amplification Cancer Affymetrix 250K Sty array 20164920 ERBB3,IKZF4,RPS26 chr12 56425050 56428293 Amplified Liposarcoma FISH, CGH 21253554 IKZF4 chr12 56425050 56428293 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 IKZF4 chr12 56425051 56428271 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IKZF4 chr12 56425051 56428271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF4 chr12 56425051 56428271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF4 chr12 56425051 56428292 Gain and loss Pancreatic cancer SNP array 17952125 IKZF4 chr12 56426082 56427135 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IKZF4 chr12 56428269 56432431 Amplification Glioblastoma multiforme Illumina SNP arrays 22286061 IKZF4 chr12 56428269 56432431 Amplified Liposarcoma FISH, CGH 21253554 IKZF4 chr12 56428269 56432431 Deletions,duplications Melanoma MLPA 19011513 IKZF4 chr12 56428269 56432431 Gain or loss Breast cancer - 20668451 IKZF4 chr12 56428269 56432431 Gain or loss Cancer - 20668451 IKZF4 chr12 56428269 56432431 Gain or loss Lung cancer - 20668451 IKZF4 chr12 56428269 56432431 Gain or loss Ovarian cancer - 20668451 IKZF4 chr12 56428269 56432431 Gain or loss Pancreas cancer - 20668451 IKZF4 chr12 56428269 56432431 Gain or loss Prostate cancer - 20668451 IKZF4 chr12 56428272 56432431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IKZF4 chr12 56428272 56432431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF4 chr12 56428272 56432431 Gain and loss Pancreatic cancer SNP array 17952125 IKZF4 chr12 56428272 56432431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF4 chr12 56428296 56432293 Amplification or deletion Cancer Array CGH 17440070 IKZF4 chr12 56435148 56439465 Gain and loss Pancreatic cancer SNP array 17952125 RPS26 chr12 56435167 56439956 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPS26 chr12 56435167 56439956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPS26 chr12 56435167 56439956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS26 chr12 56441488 67458319 Amplification Normal GISTIC2.0 21527027 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,C12orf56,C12orf61,C12orf66,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DPY19L2,DTX3,ERBB3,ESYT1,FAM19A2,FLJ41278,GLI1,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IL23A,INHBC,INHBE,IRAK3,KIF5A,LEMD3,LLPH,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PA2G4,PAN2,PIP4K2C,PPM1H,PRIM1,PTGES3,R3HDM2,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SMARCC2,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,TAC3,TBC1D30,TBK1,TIMELESS,TMBIM4,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIF1,XPOT,XRCC6BP1,ZBTB39,ZC3H10 chr12 56442383 56447243 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 56442385 56447243 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 56442385 56447243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56442385 56447243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56442389 56447212 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 56448521 56452602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 56448523 56452522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 56448617 56452181 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 56448635 56452208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56448635 56452208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56452649 56462591 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 56452650 56462588 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 56452650 56462588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56452650 56462588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56452650 56462590 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 56462826 56476784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERBB3 chr12 56462826 56476784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB3 chr12 56462849 56476634 Gain and loss Pancreatic cancer SNP array 17952125 ERBB3 chr12 56462851 56477601 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERBB3 chr12 56474587 83999271 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ACSS3,AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BEST3,C12orf56,C12orf61,C12orf66,CAND1,CAPS2,CCDC59,CCT2,CDK4,CNOT2,CNPY2,COQ10A,CPM,CPSF6,CS,CSRP2,CTDSP2,CYP27B1,DCTN2,DDIT3,DPY19L2,DTX3,DYRK2,E2F7,ERBB3,ESYT1,FAM19A2,FLJ41278,FRS2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KCNC2,KCNMB4,KIF5A,KRR1,LEMD3,LGR5,LIN7A,LLPH,LOC100130776,LOC100506844,LOC100507250,LOC100507377,LRIG3,LRP1,LRRC10,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METTL1,METTL21B,METTL25,MIP,MIR1228,MIR1252,MIR1279,MIR26A2,MIR3913-1,MIR3913-2,MIR4699,MIR548C,MIR548Z,MIR5692B,MIR617,MIR618,MIRLET7I,MON2,MRS2P2,MSRB3,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NDUFA4L2,NUP107,NXPH4,OS9,OSBPL8,OTOGL,PA2G4,PAN2,PAWR,PHLDA1,PIP4K2C,PPFIA2,PPM1H,PPP1R12A,PRIM1,PTGES3,PTPRB,PTPRQ,PTPRR,R3HDM2,RAB21,RAB3IP,RAP1B,RASSF3,RBMS2,RDH16,RNF41,RPL41,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC39A5,SMARCC2,SNORA70G,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SYT1,TAC3,TBC1D15,TBC1D30,TBK1,THAP2,TIMELESS,TMBIM4,TMEM19,TMEM194A,TMEM5,TMTC2,TPH2,TRHDE,TRHDE-AS1,TSFM,TSPAN31,TSPAN8,USP15,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZDHHC17,ZFC3H1 chr12 56477704 56496119 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERBB3 chr12 56477704 56496119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERBB3 chr12 56477704 56496119 Gain and loss Pancreatic cancer SNP array 17952125 ERBB3 chr12 56477704 56496119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB3 chr12 56486204 56486310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB3 chr12 56486207 56486310 Gain and loss Pancreatic cancer SNP array 17952125 ERBB3 chr12 56497446 56532162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ESYT1,PA2G4,RPL41,ZC3H10 chr12 56498911 56499261 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PA2G4 chr12 56498911 56499261 Gain and loss Pancreatic cancer SNP array 17952125 PA2G4 chr12 56499979 56527014 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ESYT1,PA2G4,RPL41,ZC3H10 chr12 56499979 56527014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESYT1,PA2G4,RPL41,ZC3H10 chr12 56499979 56527014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESYT1,PA2G4,RPL41,ZC3H10 chr12 56502838 96440466 Deletion Acute myeloid leukemia - 21251322 ACSS3,AGAP2,ALX1,AMDHD1,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP2B1,ATP5B,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BEST3,BTG1,C12orf29,C12orf50,C12orf56,C12orf61,C12orf66,C12orf74,CAND1,CAPS2,CCDC38,CCDC41,CCDC59,CCER1,CCT2,CDK4,CEP290,CLLU1,CLLU1OS,CNOT2,CNPY2,COQ10A,CPM,CPSF6,CRADD,CS,CSRP2,CTDSP2,CYP27B1,DCN,DCTN2,DDIT3,DPY19L2,DTX3,DUSP6,DYRK2,E2F7,EEA1,EPYC,ESYT1,FAM19A2,FGD6,FLJ41278,FRS2,GALNT4,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GLS2,GNS,GPR182,GRIP1,HAL,HELB,HMGA2,HSD17B6,IFNG,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KCNC2,KCNMB4,KERA,KIF5A,KITLG,KRR1,KRT19P2,LEMD3,LGR5,LIN7A,LINC00615,LLPH,LOC100130776,LOC100506844,LOC100507250,LOC100507377,LOC144486,LOC256021,LOC338758,LOC643339,LOC728084,LRIG3,LRP1,LRRC10,LRRIQ1,LTA4H,LUM,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METAP2,METTL1,METTL21B,METTL25,MGAT4C,MIP,MIR1228,MIR1252,MIR1279,MIR26A2,MIR331,MIR3685,MIR3913-1,MIR3913-2,MIR4699,MIR492,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIRLET7I,MKRN9P,MON2,MRPL42,MRS2P2,MSRB3,MYF5,MYF6,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NAP1L1,NAV3,NDUFA12,NDUFA4L2,NR2C1,NTN4,NTS,NUDT4,NUDT4P1,NUP107,NXPH4,OS9,OSBPL8,OTOGL,PA2G4,PAN2,PAWR,PHLDA1,PIP4K2C,PLEKHG7,PLXNC1,POC1B,POC1B-GALNT4,PPFIA2,PPM1H,PPP1R12A,PRIM1,PTGES3,PTPRB,PTPRQ,PTPRR,R3HDM2,RAB21,RAB3IP,RAP1B,RASSF3,RASSF9,RBMS2,RDH16,RNF41,RPL41,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC39A5,SLC6A15,SMARCC2,SNORA70G,SNORD59A,SNORD59B,SNRPF,SOCS2,SOCS2-AS1,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,SYT1,TAC3,TBC1D15,TBC1D30,TBK1,THAP2,TIMELESS,TMBIM4,TMCC3,TMEM19,TMEM194A,TMEM5,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSFM,TSPAN19,TSPAN31,TSPAN8,UBE2N,USP15,USP44,VEZT,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZC3H10,ZDHHC17,ZFC3H1 chr12 56503617 56526789 Gain and loss Pancreatic cancer SNP array 17952125 ESYT1,PA2G4,RPL41,ZC3H10 chr12 56504659 56504742 Deletion Acute myeloid leukemia BAC aCGH 20962326 PA2G4 chr12 56504659 56504742 Gain and loss Pancreatic cancer SNP array 17952125 PA2G4 chr12 56504659 56504742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PA2G4 chr12 56518110 56518210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 56537480 56537715 Gain and loss Pancreatic cancer SNP array 17952125 ESYT1 chr12 56537480 56537715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESYT1 chr12 56549866 56584743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYL6,MYL6B,SMARCC2 chr12 56553436 56553489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYL6 chr12 56572643 56573643 Gain Osteosarcoma References 21215367 SMARCC2 chr12 56573381 56574381 Loss Osteosarcoma References 21215367 SMARCC2 chr12 56600000 58100000 Amplification Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,B4GALNT1,BAZ2A,CNPY2,COQ10A,CS,DCTN2,DDIT3,DTX3,GLI1,GLS2,GPR182,HSD17B6,IL23A,INHBC,INHBE,KIF5A,LRP1,MARS,MBD6,MIP,MIR1228,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PAN2,PIP4K2C,PRIM1,PTGES3,R3HDM2,RBMS2,RDH16,RNF41,SDR9C7,SHMT2,SLC26A10,SLC39A5,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,TAC3,TIMELESS,TMEM194A,ZBTB39 chr12 56600000 58100000 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,B4GALNT1,BAZ2A,CNPY2,COQ10A,CS,DCTN2,DDIT3,DTX3,GLI1,GLS2,GPR182,HSD17B6,IL23A,INHBC,INHBE,KIF5A,LRP1,MARS,MBD6,MIP,MIR1228,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PAN2,PIP4K2C,PRIM1,PTGES3,R3HDM2,RBMS2,RDH16,RNF41,SDR9C7,SHMT2,SLC26A10,SLC39A5,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,TAC3,TIMELESS,TMEM194A,ZBTB39 chr12 56600000 58100000 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,B4GALNT1,BAZ2A,CNPY2,COQ10A,CS,DCTN2,DDIT3,DTX3,GLI1,GLS2,GPR182,HSD17B6,IL23A,INHBC,INHBE,KIF5A,LRP1,MARS,MBD6,MIP,MIR1228,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PAN2,PIP4K2C,PRIM1,PTGES3,R3HDM2,RBMS2,RDH16,RNF41,SDR9C7,SHMT2,SLC26A10,SLC39A5,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,TAC3,TIMELESS,TMEM194A,ZBTB39 chr12 56600000 63100000 Amplification Glioblastoma multiforme Real-Time PCR 20080666 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,C12orf61,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,FAM19A2,GLI1,GLS2,GPR182,HSD17B6,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIRLET7I,MON2,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PAN2,PIP4K2C,PPM1H,PRIM1,PTGES3,R3HDM2,RBMS2,RDH16,RNF41,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,USP15,XRCC6BP1,ZBTB39 chr12 56600000 63100000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,C12orf61,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,FAM19A2,GLI1,GLS2,GPR182,HSD17B6,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIRLET7I,MON2,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PAN2,PIP4K2C,PPM1H,PRIM1,PTGES3,R3HDM2,RBMS2,RDH16,RNF41,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,USP15,XRCC6BP1,ZBTB39 chr12 56600000 63100000 Gain Breast cancer Microarray-based CGH 17133270 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,C12orf61,CDK4,CNPY2,COQ10A,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,FAM19A2,GLI1,GLS2,GPR182,HSD17B6,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MIRLET7I,MON2,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NXPH4,OS9,PAN2,PIP4K2C,PPM1H,PRIM1,PTGES3,R3HDM2,RBMS2,RDH16,RNF41,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC39A5,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,USP15,XRCC6BP1,ZBTB39 chr12 56600000 71500000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 AGAP2,ANKRD52,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BEST3,C12orf56,C12orf61,C12orf66,CAND1,CCT2,CDK4,CNOT2,CNPY2,COQ10A,CPM,CPSF6,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DPY19L2,DTX3,DYRK2,FAM19A2,FLJ41278,FRS2,GLI1,GLS2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IL22,IL23A,IL26,INHBC,INHBE,IRAK3,KCNMB4,KIF5A,LEMD3,LLPH,LOC100130776,LOC100506844,LOC100507250,LRIG3,LRP1,LRRC10,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METTL1,METTL21B,MIP,MIR1228,MIR1279,MIR26A2,MIR3913-1,MIR3913-2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,MYO1A,NAB2,NABP2,NACA,NDUFA4L2,NUP107,NXPH4,OS9,PAN2,PIP4K2C,PPM1H,PRIM1,PTGES3,PTPRB,PTPRR,R3HDM2,RAB3IP,RAP1B,RASSF3,RBMS2,RDH16,RNF41,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC39A5,SNORA70G,SNORD59A,SNORD59B,SPRYD4,SRGAP1,STAC3,STAT2,STAT6,TAC3,TBC1D30,TBK1,TIMELESS,TMBIM4,TMEM194A,TMEM5,TSFM,TSPAN31,USP15,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39 chr12 56621627 56637318 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD52,NABP2,SLC39A5 chr12 56621627 56637318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD52,NABP2,SLC39A5 chr12 56621627 56637318 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD52,NABP2,SLC39A5 chr12 56621627 56637318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD52,NABP2,SLC39A5 chr12 56621711 56637319 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ANKRD52,NABP2,SLC39A5 chr12 56629392 56629542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A5 chr12 56657998 56658323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 56658015 56658323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 56658088 56658318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 56664276 56664811 Gain and loss Pancreatic cancer SNP array 17952125 COQ10A chr12 56664276 56664817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COQ10A chr12 56664276 56664817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COQ10A chr12 56678001 56679000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CS chr12 56679001 60035000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP2,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,CDK4,CNPY2,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,GLS2,GPR182,HSD17B6,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MYO1A,NAB2,NACA,NDUFA4L2,NXPH4,OS9,PAN2,PIP4K2C,PRIM1,PTGES3,R3HDM2,RBMS2,RDH16,SDR9C7,SHMT2,SLC16A7,SLC26A10,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,XRCC6BP1,ZBTB39 chr12 56684632 57271996 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APOF,ATP5B,BAZ2A,CNPY2,CS,GLS2,HSD17B6,IL23A,MIP,NACA,PAN2,PRIM1,PTGES3,RBMS2,SNORD59A,SNORD59B,SPRYD4,STAT2,TIMELESS chr12 56684632 58270954 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGAP2,APOF,ARHGAP9,ARHGEF25,ATP5B,AVIL,B4GALNT1,BAZ2A,CDK4,CNPY2,CS,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,GLS2,GPR182,HSD17B6,IL23A,INHBC,INHBE,KIF5A,LOC100130776,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIP,MIR1228,MIR26A2,MYO1A,NAB2,NACA,NDUFA4L2,NXPH4,OS9,PAN2,PIP4K2C,PRIM1,PTGES3,R3HDM2,RBMS2,RDH16,SDR9C7,SHMT2,SLC26A10,SNORD59A,SNORD59B,SPRYD4,STAC3,STAT2,STAT6,TAC3,TIMELESS,TMEM194A,TSFM,TSPAN31,ZBTB39 chr12 56722601 57102100 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOF,ATP5B,BAZ2A,GLS2,IL23A,MIP,PAN2,PTGES3,RBMS2,SNORD59A,SNORD59B,SPRYD4,STAT2,TIMELESS chr12 56744490 56776488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APOF,STAT2 chr12 56744619 56767737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOF,STAT2 chr12 56748032 56759120 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOF,STAT2 chr12 56752827 56757171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOF,STAT2 chr12 56753986 56785805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOF,STAT2 chr12 56754391 56759157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOF chr12 56754476 56760870 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOF chr12 56754551 56777671 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOF chr12 56776361 56821733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TIMELESS chr12 56777639 56778639 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 56795895 56800009 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 56835299 56836299 Loss Osteosarcoma References 21215367 TIMELESS chr12 56841526 56841626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TIMELESS chr1 25687226 25687326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM50A chr12 568955 569017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 56951397 56961481 Amplification Normal Arbitrated Peel-off 21527027 RBMS2 chr1 25696552 28398845 LOH Normal High-resolution SNP genotyping 21211785 AHDC1,AIM1L,ARID1A,AUNIP,C1orf172,CATSPER4,CD164L2,CD52,CEP85,CNKSR1,DHDDS,EXTL1,EYA3,FAM110D,FAM46B,FAM54B,FAM76A,FCN3,FGR,GPATCH3,GPN2,GPR3,HMGN2,IFI6,LDLRAP1,LIN28A,LOC644961,LOC646471,MAN1C1,MAP3K6,MIR1976,MIR3917,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,PPP1R8,RHCE,RPA2,RPS6KA1,SCARNA1,SEPN1,SFN,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,STMN1,STX12,SYTL1,THEMIS2,TMEM222,TMEM57,TRIM63,TRNP1,UBXN11,WASF2,WDTC1,XKR8,ZDHHC18,ZNF593,ZNF683 chr12 56985059 57029445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BAZ2A,RBMS2 chr12 56986484 57020949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BAZ2A,RBMS2 chr12 56989370 56989457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BAZ2A,RBMS2 chr1 25700000 37900000 Copy number Abnormal corpus callosum Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ADC,ADPRHL2,AHDC1,AIM1L,AK2,ARID1A,ATPIF1,AUNIP,BAI2,BSDC1,C1orf172,C1orf212,C1orf216,C1orf94,CATSPER4,CCDC28B,CD164L2,CD52,CEP85,CLSPN,CNKSR1,COL16A1,COL8A2,CSF3R,CSMD2,DCDC2B,DHDDS,DLGAP3,DNAJC8,EIF2C1,EIF2C3,EIF2C4,EIF3I,EPB41,EXTL1,EYA3,FABP3,FAM110D,FAM167B,FAM176B,FAM46B,FAM54B,FAM76A,FCN3,FGR,FNDC5,GJA4,GJB3,GJB4,GJB5,GMEB1,GPATCH3,GPN2,GPR3,GRIK3,HCRTR1,HDAC1,HMGB4,HMGN2,HPCA,IFI6,IQCC,KHDRBS1,KIAA0319L,KIAA1522,KPNA6,LAPTM5,LCK,LDLRAP1,LIN28A,LOC100128071,LOC149086,LOC284551,LOC402779,LOC644961,LOC646471,LOC653160,LSM10,MAN1C1,MAP3K6,MAP7D1,MARCKSL1,MATN1,MATN1-AS1,MECR,MED18,MIR1976,MIR3605,MIR3917,MIR4254,MIR4255,MIR4420,MRPS15,MTMR9LP,NCDN,NKAIN1,NR0B2,NUDC,OPRD1,OSCP1,PAFAH2,PAQR7,PDIK1L,PEF1,PHACTR4,PHC2,PIGV,PPP1R8,PSMB2,PTAFR,PTP4A2,PTPRU,PUM1,RAB42,RBBP4,RCC1,RHCE,RNF19B,RNU11,RPA2,RPS6KA1,S100PBP,SCARNA1,SDC3,SEPN1,SERINC2,SESN2,SFN,SFPQ,SH3BGRL3,SH3D21,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPOCD1,SRSF4,STK40,STMN1,STX12,SYNC,SYTL1,TAF12,TEKT2,TFAP2E,THEMIS2,THRAP3,TINAGL1,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM54,TMEM57,TRAPPC3,TRIM62,TRIM63,TRNAU1AP,TRNP1,TSSK3,TXLNA,UBXN11,WASF2,WDTC1,XKR8,YARS,YTHDF2,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZNF593,ZNF683,ZSCAN20 chr12 57002442 57031166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BAZ2A chr12 57002716 57016417 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BAZ2A chr12 57002855 57016417 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BAZ2A chr12 57003071 57045363 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP5B,BAZ2A,SNORD59A,SNORD59B chr12 57003336 57019612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BAZ2A chr12 57004116 57019450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BAZ2A chr12 57006943 57032578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP5B,BAZ2A chr12 57007323 57016429 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BAZ2A chr12 57008431 57010527 Gain and loss Pancreatic cancer SNP array 17952125 BAZ2A chr12 570086 570457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 B4GALNT3 chr12 57011311 57012311 Loss Osteosarcoma References 21215367 BAZ2A chr12 57021816 85836547 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.28 20877625 ACSS3,AGAP2,ALX1,ARHGAP9,ARHGEF25,ATP5B,ATXN7L3B,AVIL,AVPR1A,B4GALNT1,BAZ2A,BBS10,BEST3,C12orf56,C12orf61,C12orf66,CAND1,CAPS2,CCDC59,CCT2,CDK4,CNOT2,CPM,CPSF6,CSRP2,CTDSP2,CYP27B1,DCTN2,DDIT3,DPY19L2,DTX3,DYRK2,E2F7,FAM19A2,FLJ41278,FRS2,GLI1,GLIPR1,GLIPR1L1,GLIPR1L2,GNS,GPR182,GRIP1,HELB,HMGA2,HSD17B6,IFNG,IL22,IL26,INHBC,INHBE,IRAK3,KCNC2,KCNMB4,KIF5A,KRR1,LEMD3,LGR5,LIN7A,LLPH,LOC100130776,LOC100506844,LOC100507250,LOC100507377,LRIG3,LRP1,LRRC10,LRRIQ1,LYZ,MARCH9,MARS,MBD6,MDM1,MDM2,METTL1,METTL21B,METTL25,MIR1228,MIR1252,MIR1279,MIR26A2,MIR3913-1,MIR3913-2,MIR4699,MIR548C,MIR548Z,MIR5692B,MIR617,MIR618,MIRLET7I,MON2,MRS2P2,MSRB3,MYF5,MYF6,MYO1A,NAB2,NACA,NAP1L1,NAV3,NDUFA4L2,NUP107,NXPH4,OS9,OSBPL8,OTOGL,PAWR,PHLDA1,PIP4K2C,PPFIA2,PPM1H,PPP1R12A,PRIM1,PTGES3,PTPRB,PTPRQ,PTPRR,R3HDM2,RAB21,RAB3IP,RAP1B,RASSF3,RDH16,RPSAP52,SDR9C7,SHMT2,SLC16A7,SLC26A10,SLC35E3,SLC6A15,SNORA70G,SNORD59A,SNORD59B,SRGAP1,STAC3,STAT6,SYT1,TAC3,TBC1D15,TBC1D30,TBK1,THAP2,TMBIM4,TMEM19,TMEM194A,TMEM5,TMTC2,TPH2,TRHDE,TRHDE-AS1,TSFM,TSPAN19,TSPAN31,TSPAN8,USP15,WIF1,XPOT,XRCC6BP1,YEATS4,ZBTB39,ZDHHC17,ZFC3H1 chr12 57022427 57022501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BAZ2A chr12 57025146 57025446 Loss Osteosarcoma References 21215367 BAZ2A chr12 57025231 57026231 Loss Osteosarcoma References 21215367 BAZ2A chr1 2570831 2580099 Gain Normal TaqMan assays 20972442 TTC34 chr12 57102652 57103652 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 57104480 57137085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NACA,PRIM1 chr1 25714678 26942586 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AIM1L,AUNIP,CATSPER4,CD52,CEP85,CNKSR1,DHDDS,EXTL1,FAM110D,FAM54B,HMGN2,LDLRAP1,LIN28A,LOC646471,MAN1C1,MIR1976,MIR3917,PAFAH2,PAQR7,PDIK1L,RHCE,RPS6KA1,SEPN1,SH3BGRL3,SLC30A2,STMN1,TMEM57,TRIM63,UBXN11,ZNF593,ZNF683 chr1 25715501 25777000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RHCE,TMEM57 chr12 57199037 57199095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 57263787 57264787 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 57277920 57278047 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 57290007 57291007 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 57290916 57291916 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 57304371 57305371 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 57308996 57609312 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR182,LRP1,MIR1228,MYO1A,NAB2,RDH16,SDR9C7,STAT6,TAC3,TMEM194A,ZBTB39 chr12 57336249 58214421 LOH Normal High-resolution SNP genotyping 21211785 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,GPR182,INHBC,INHBE,KIF5A,LOC100130776,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR1228,MYO1A,NAB2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,RDH16,SHMT2,SLC26A10,STAC3,STAT6,TAC3,TMEM194A,TSFM,TSPAN31,ZBTB39 chr12 57336291 57336411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 57350066 58214421 LOH Normal High-resolution SNP genotyping 21211785 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,GPR182,INHBC,INHBE,KIF5A,LOC100130776,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR1228,MYO1A,NAB2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,RDH16,SHMT2,SLC26A10,STAC3,STAT6,TAC3,TMEM194A,TSFM,TSPAN31,ZBTB39 chr12 57350066 59827783 LOH Normal High-resolution SNP genotyping 21211785 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,GPR182,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR1228,MIR26A2,MYO1A,NAB2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,RDH16,SHMT2,SLC26A10,STAC3,STAT6,TAC3,TMEM194A,TSFM,TSPAN31,XRCC6BP1,ZBTB39 chr1 2573501 2581500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC34 chr12 57367603 58224044 LOH Normal High-resolution SNP genotyping 21211785 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,GPR182,INHBC,INHBE,KIF5A,LOC100130776,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR1228,MIR26A2,MYO1A,NAB2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,SHMT2,SLC26A10,STAC3,STAT6,TAC3,TMEM194A,TSFM,TSPAN31,ZBTB39 chr12 57397386 57398386 Loss Osteosarcoma References 21215367 ZBTB39 chr12 57400320 57401320 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 57410347 57410412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 57423188 57423273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1A chr12 5742416 5979401 Copy number Lung cancer paired-end sequencing 18438408 ANO2 chr1 25742663 25767964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHCE,TMEM57 chr1 25742663 25767964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHCE,TMEM57 chr12 5748380 5748475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO2 chr12 57493409 57493494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAT6 chr12 57506326 58214421 LOH Normal High-resolution SNP genotyping 21211785 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,INHBC,INHBE,KIF5A,LOC100130776,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR1228,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,SHMT2,SLC26A10,STAC3,TSFM,TSPAN31 chr12 57508018 58841784 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR1228,MIR26A2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,SHMT2,SLC26A10,STAC3,TSFM,TSPAN31,XRCC6BP1 chr12 57508320 57508655 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 57520309 57520379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 57529449 57529535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1 chr12 57532559 57532591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1 chr12 57552205 57600529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRP1,MIR1228 chr12 57552205 57600529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP1,MIR1228 chr12 57552205 57600529 Gain and loss Pancreatic cancer SNP array 17952125 LRP1,MIR1228 chr12 57552205 57600529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP1,MIR1228 chr12 57553706 57759239 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRP1,MIR1228,NDUFA4L2,NXPH4,R3HDM2,SHMT2,STAC3 chr12 57554249 57555249 Loss Osteosarcoma References 21215367 LRP1 chr12 57565928 57598379 Amplification Normal Arbitrated Peel-off 21527027 LRP1,MIR1228 chr12 57565928 57598379 Amplification Normal Standard peel-off 21527027 LRP1,MIR1228 chr12 57590786 57590859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1 chr12 57595973 58795691 LOH Normal High-resolution SNP genotyping 21211785 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR26A2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,SHMT2,SLC26A10,STAC3,TSFM,TSPAN31,XRCC6BP1 chr12 57596554 57630291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRP1,NDUFA4L2,NXPH4,SHMT2 chr12 57598655 61826561 Deletion Normal Arbitrated Peel-off 21527027 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR26A2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,SHMT2,SLC16A7,SLC26A10,STAC3,TSFM,TSPAN31,XRCC6BP1 chr12 57598655 61826561 Deletion Normal GeneGISTIC 21527027 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR26A2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,SHMT2,SLC16A7,SLC26A10,STAC3,TSFM,TSPAN31,XRCC6BP1 chr12 57598655 61826561 Deletion Normal Standard peel-off 21527027 AGAP2,ARHGAP9,ARHGEF25,AVIL,B4GALNT1,CDK4,CTDSP2,CYP27B1,DCTN2,DDIT3,DTX3,GLI1,INHBC,INHBE,KIF5A,LOC100130776,LOC100506844,LRIG3,LRP1,MARCH9,MARS,MBD6,METTL1,METTL21B,MIR26A2,NDUFA4L2,NXPH4,OS9,PIP4K2C,R3HDM2,SHMT2,SLC16A7,SLC26A10,STAC3,TSFM,TSPAN31,XRCC6BP1 chr12 57612521 57612621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NXPH4 chr12 57620230 57621230 Gain Osteosarcoma References 21215367 NXPH4 chr12 57620431 57621431 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 57620497 57621497 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 57627291 57647855 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDUFA4L2,R3HDM2,SHMT2,STAC3 chr12 57636007 57636069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 57636628 57653627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 R3HDM2,STAC3 chr12 57657661 57657761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 R3HDM2 chr12 57660170 57660494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 R3HDM2 chr12 5769401 5769551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO2 chr12 5769598 5769794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO2 chr1 2577151 2577251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC34 chr1 2577630 2577683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC34 chr12 57763521 57764521 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 25777001 25941000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LDLRAP1,TMEM57 chr12 57779502 57780502 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 25781498 25781673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM57 chr12 57829380 57830380 Loss Osteosarcoma References 21215367 INHBC chr1 25784093 25784586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM57 chr12 57867961 57868291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGAP9 chr12 57910091 57910191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARS chr12 57997044 57998044 Loss Osteosarcoma References 21215367 PIP4K2C chr1 25800000 154800000 Duplication Splenic marginal zone lymphoma BAC CGH array 21957467 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ADAM30,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,AQP10,ARHGAP29,ARID1A,ARNT,ARTN,ASB17,ATG4C,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf194,C1orf210,C1orf212,C1orf216,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf68,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAP1,CAPZA1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDC14A,CDC20,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLSPN,CMPK1,CNKSR1,CNN3,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRCT1,CREB3L4,CRNN,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDX20,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,EBNA1BP2,ECHDC2,ECM1,EDN2,EFCAB7,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,ELTD1,EMBP1,ENSA,EPB41,EPHA10,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FCGR1A,FCGR1B,FCGR1C,FCN3,FGGY,FGR,FHL3,FLG,FLG2,FLJ27354,FLJ31662,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GABPB2,GADD45A,GATAD2B,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GPATCH3,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAX1,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCS2,HMGN2,HOOK1,HORMAD1,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HYDIN2,HYI,IFI44,IFI44L,IFI6,IGSF3,IL12RB2,IL23R,IL6R,ILF2,INADL,INPP5B,INSL5,INTS3,IPO13,IPP,IQCC,ITGA10,ITGB3BP,IVL,JAK1,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNN3,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF2C,KLF17,KNCN,KPNA6,KPRP,KTI12,L1TD1,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAP1,LELP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505768,LOC100506343,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC339442,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MEAF6,MECR,MED18,MED8,MFSD2A,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3917,MIR4254,MIR4255,MIR4256,MIR4257,MIR4420,MIR4422,MIR4423,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPL9,MRPS15,MRPS21,MSH4,MTF1,MTF2,MTMR11,MTMR9LP,MUTYH,MYBPHL,MYCBP,MYCL1,MYSM1,NASP,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NDUFS5,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NKAIN1,NOTCH2,NOTCH2NL,NPR1,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,NUDT17,NUP210L,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD7B,OVGP1,OXCT2,PABPC4,PAFAH2,PALMD,PAQR7,PARS2,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PIP5K1A,PKN2,PLEKHO1,PLK3,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB13,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCC1,REG4,RFX5,RHBDL2,RHOC,RIIAD1,RIMKLA,RIMS3,RLF,RNF11,RNF115,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RSBN1,RSPO1,RTCA,RWDD3,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNM1,SCP2,SDC3,SEC22B,SELENBP1,SELRC1,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH3BGRL3,SH3D21,SH3GLB1,SHE,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA6,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYNC,SYPL2,SYT6,SYTL1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TBX15,TCEANC2,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBXN11,UOX,UQCRH,UROD,USP1,USP24,USP33,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS45,VPS72,VTCN1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 25800000 157300000 Gain Breast cancer Conventional CGH 17393978 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ADAM15,ADAM30,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APH1A,APOA1BP,AQP10,ARHGAP29,ARHGEF11,ARHGEF2,ARID1A,ARNT,ARTN,ASB17,ASH1L,ASH1L-AS1,ATG4C,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf194,C1orf210,C1orf212,C1orf216,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CAP1,CAPZA1,CASQ2,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD164L2,CD2,CD52,CD53,CD58,CDC14A,CDC20,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELF3,CELSR2,CEP85,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLK2,CLSPN,CMPK1,CNKSR1,CNN3,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRABP2,CRCT1,CREB3L4,CRNN,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DBT,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDX20,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHDDS,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPYD,DPYD-AS1,DR1,DRAM2,EBNA1BP2,ECHDC2,ECM1,EDN2,EFCAB7,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,ELTD1,EMBP1,ENSA,EPB41,EPHA10,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ETV3,ETV3L,EVI5,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46B,FAM46C,FAM54B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM76A,FAM91A2,FCGR1A,FCGR1B,FCGR1C,FCN3,FDPS,FGGY,FGR,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GABPB2,GADD45A,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GPATCH3,GPATCH4,GPBP1L1,GPN2,GPR3,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCS2,HMGN2,HOOK1,HORMAD1,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HYDIN2,HYI,IFI44,IFI44L,IFI6,IGSF3,IL12RB2,IL23R,IL6R,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,IVL,JAK1,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNN3,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIF2C,KLF17,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LDLRAP1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100132111,LOC100286793,LOC100505666,LOC100505768,LOC100506343,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC339442,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC644961,LOC645166,LOC646471,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MEAF6,MECR,MED18,MED8,MEF2D,MEX3A,MFSD2A,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR3917,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4711,MIR4781,MIR4794,MIR5087,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MOB3C,MOV10,MPL,MRPL24,MRPL37,MRPL9,MRPS15,MRPS21,MSH4,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUTYH,MYBPHL,MYCBP,MYCL1,MYSM1,NASP,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NDUFS5,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH2,NKAIN1,NOTCH2,NOTCH2NL,NPR1,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDC,NUDT17,NUP210L,OAZ3,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD7B,OVGP1,OXCT2,PABPC4,PAFAH2,PALMD,PAQR6,PAQR7,PARS2,PBXIP1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDIK1L,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEAR1,PEF1,PEX11B,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGV,PIK3R3,PIN1P1,PIP5K1A,PKLR,PKN2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PRCC,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PYGO2,RAB13,RAB25,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCC1,REG4,RFX5,RHBDL2,RHBG,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNF11,RNF115,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RORC,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL5,RPRD2,RPS15AP10,RPS27,RPS6KA1,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSPO1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA1,SCARNA2,SCARNA4,SCMH1,SCNM1,SCP2,SDC3,SEC22B,SELENBP1,SELRC1,SEMA4A,SEMA6C,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SETDB1,SF3A3,SF3B4,SFN,SFPQ,SGIP1,SH2D2A,SH3BGRL3,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMPDL3B,SNAPIN,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA42,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA6,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SRG7,SRGAP2B,SRSF11,SRSF4,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STX12,STXBP3,SV2A,SYCP1,SYDE2,SYNC,SYPL2,SYT11,SYT6,SYTL1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARS2,TBX15,TCEANC2,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UBXN11,UOX,UQCRH,UROD,USP1,USP24,USP33,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VTCN1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,YY1AP1,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr12 58010163 58010164 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ARHGEF25 chr12 58031479 58032479 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 58049095 58049199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 58049118 58049199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 58063941 58096598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OS9 chr12 58083261 58083341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58084254 58084501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 25808494 25854174 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM57 chr12 58085499 58126108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGAP2,LOC100130776,OS9 chr12 58100000 63100000 Copy number Glioblastoma Array CGH 17090523 AGAP2,AVIL,C12orf61,CDK4,CTDSP2,CYP27B1,FAM19A2,LOC100130776,LOC100506844,LRIG3,MARCH9,METTL1,METTL21B,MIR26A2,MIRLET7I,MON2,OS9,PPM1H,SLC16A7,TSFM,TSPAN31,USP15,XRCC6BP1 chr12 58100000 63100000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 AGAP2,AVIL,C12orf61,CDK4,CTDSP2,CYP27B1,FAM19A2,LOC100130776,LOC100506844,LRIG3,MARCH9,METTL1,METTL21B,MIR26A2,MIRLET7I,MON2,OS9,PPM1H,SLC16A7,TSFM,TSPAN31,USP15,XRCC6BP1 chr12 58100000 65100000 Loss and deletion Multiple myeloma Array CGH 16616336 AGAP2,AVIL,AVPR1A,C12orf56,C12orf61,C12orf66,CDK4,CTDSP2,CYP27B1,DPY19L2,FAM19A2,LOC100130776,LOC100506844,LRIG3,MARCH9,METTL1,METTL21B,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,OS9,PPM1H,RASSF3,SLC16A7,SRGAP1,TBK1,TMEM5,TSFM,TSPAN31,USP15,XPOT,XRCC6BP1 chr12 58100000 67700000 Deletion Lung cancer Relied on a multipoint score function 16773561 AGAP2,AVIL,AVPR1A,C12orf56,C12orf61,C12orf66,CAND1,CDK4,CTDSP2,CYP27B1,DPY19L2,FAM19A2,FLJ41278,GNS,GRIP1,HELB,HMGA2,IRAK3,LEMD3,LLPH,LOC100130776,LOC100506844,LRIG3,MARCH9,METTL1,METTL21B,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,OS9,PPM1H,RASSF3,RPSAP52,SLC16A7,SRGAP1,TBC1D30,TBK1,TMBIM4,TMEM5,TSFM,TSPAN31,USP15,WIF1,XPOT,XRCC6BP1 chr12 58100000 67700000 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 AGAP2,AVIL,AVPR1A,C12orf56,C12orf61,C12orf66,CAND1,CDK4,CTDSP2,CYP27B1,DPY19L2,FAM19A2,FLJ41278,GNS,GRIP1,HELB,HMGA2,IRAK3,LEMD3,LLPH,LOC100130776,LOC100506844,LRIG3,MARCH9,METTL1,METTL21B,MIR26A2,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,OS9,PPM1H,RASSF3,RPSAP52,SLC16A7,SRGAP1,TBC1D30,TBK1,TMBIM4,TMEM5,TSFM,TSPAN31,USP15,WIF1,XPOT,XRCC6BP1 chr1 25810868 25828856 Gain and loss Pancreatic cancer SNP array 17952125 TMEM57 chr12 58120089 58120177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP2,LOC100130776 chr12 58123354 58168983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGAP2,CDK4,CYP27B1,MARCH9,METTL1,METTL21B,TSPAN31 chr12 58127863 58127963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP2 chr12 58138784 58142025 Amplification Bone cancer 32k BAC microarrays 16732325 CDK4,TSPAN31 chr12 58141509 58146230 Amplification Bone cancer 32k BAC microarrays 16732325 CDK4,TSPAN31 chr12 58142004 58146164 Amplification Neuroblastoma 44K Agilent aCGH chip 22034077 CDK4,TSPAN31 chr1 25814359 25814452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM57 chr12 5814936 5815036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO2 chr1 2581501 2685000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC34 chr1 25816546 25983845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDLRAP1,MAN1C1,TMEM57 chr1 25816546 25983845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDLRAP1,MAN1C1,TMEM57 chr12 58181206 58198034 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AVIL,TSFM chr1 25820020 25843573 Gain and loss Pancreatic cancer SNP array 17952125 TMEM57 chr12 58214421 58234415 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CTDSP2,MIR26A2 chr12 58214421 58234415 Total allelic loss Normal High-resolution SNP genotyping 21211785 CTDSP2,MIR26A2 chr12 58222062 58239126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTDSP2 chr12 58224044 58232302 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CTDSP2 chr12 58224044 58232302 Total allelic loss Normal High-resolution SNP genotyping 21211785 CTDSP2 chr12 58232302 60031427 LOH Normal High-resolution SNP genotyping 21211785 CTDSP2,LOC100506844,LRIG3,SLC16A7,XRCC6BP1 chr12 58234415 59827783 LOH Normal High-resolution SNP genotyping 21211785 CTDSP2,LOC100506844,LRIG3,XRCC6BP1 chr12 58245748 132373208 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,AVPR1A,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf61,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM19A2,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GPN3,GPR133,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IL22,IL26,IL31,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100506844,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRIG3,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MDM1,MDM2,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MIRLET7I,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MON2,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC16A7,SLC17A8,SLC24A6,SLC25A3,SLC35E3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNORA70G,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP15,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIF1,WSB2,WSCD2,XPOT,XRCC6BP1,YEATS4,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 58265292 58279111 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 58266838 58266986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 58266841 58266990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 58266841 58266991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 58276115 58461674 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506844,XRCC6BP1 chr12 58292690 58294872 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 25830890 25831396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 58358853 58359065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58358912 58359028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58369393 58461674 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 58369393 58461674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 58369393 58461674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 58388658 58390214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 58397593 58932086 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 58397593 60511078 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRIG3,SLC16A7 chr12 58428539 58428839 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 58442187 58443187 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 25844643 25869991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 58458020 58458225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58458210 58458437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58459278 58460145 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 58459673 58460145 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 58459673 58460145 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 58480241 58480341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58481060 58481360 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 58481314 58482314 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 58486346 58487346 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 58492193 58492624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 58492205 58492618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 58533601 58533701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58555429 58583969 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 58560306 58560381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58590411 58590511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58698613 58699775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 25871845 25881886 Gain and loss Pancreatic cancer SNP array 17952125 LDLRAP1 chr12 58721067 58721213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58730714 58730814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58747027 58747102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 58806201 58813300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 58807967 58811444 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 58808107 58811302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 5882139 5882223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO2 chr1 25882222 26588271 LOH Normal High-resolution SNP genotyping 21211785 AUNIP,CATSPER4,CEP85,CNKSR1,EXTL1,FAM110D,FAM54B,LDLRAP1,LOC646471,MAN1C1,MIR3917,PAFAH2,PAQR7,PDIK1L,SEPN1,SLC30A2,STMN1,TRIM63,ZNF593 chr1 25888129 25888229 Gain and loss Pancreatic cancer SNP array 17952125 LDLRAP1 chr1 25888129 25888236 Gain and loss Pancreatic cancer SNP array 17952125 LDLRAP1 chr12 58912619 58913619 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 58942314 58942414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 25894814 25903240 Gain and loss Pancreatic cancer SNP array 17952125 LDLRAP1 chr12 58957976 58958976 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 58987599 58987899 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 58987651 58988651 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 59002439 59003439 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 5900669 5900769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO2 chr12 59021874 59021989 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 59021875 59021988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 59028976 59029093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59029088 59061153 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 59039484 59044169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 25910751 25917510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 59159790 59165069 Loss or gain Normal 244K array 17666407 NOT_FOUND chr12 59195951 59196036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59202710 59202810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59218879 59219065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59219055 59219155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59219056 59219248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59220144 59222272 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 59239076 61395804 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LRIG3,SLC16A7 chr12 59244191 59244481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 59255003 62619912 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM19A2,LRIG3,SLC16A7 chr12 59257842 59257942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5928300 6104097 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 ANO2,VWF chr12 5928300 6104097 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ANO2,VWF chr12 5928300 6104097 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ANO2,VWF chr12 5928301 6104097 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANO2,VWF chr12 5928301 6104097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO2,VWF chr12 5928301 6104097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO2,VWF chr12 5928308 6104097 Gain and loss Pancreatic cancer SNP array 17952125 ANO2,VWF chr12 59289256 59289392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRIG3 chr12 59292511 59293511 Loss Osteosarcoma References 21215367 LRIG3 chr12 59298839 59301264 Gain and loss Pancreatic cancer SNP array 17952125 LRIG3 chr12 59326334 59326759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 59342711 59343711 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 59342779 59343779 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 59345484 59345564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59346993 59347115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59359795 59360795 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 59409931 59410149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 25941001 26020500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAN1C1 chr12 59410144 59410310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5943647 5943729 Gain and loss Pancreatic cancer SNP array 17952125 ANO2 chr12 59457518 59457618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59468319 59469319 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr12 59491699 59491930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59502100 60072180 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 SLC16A7 chr12 59539267 59540267 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr12 59562971 59601854 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr12 59562971 59601854 Amplification Normal Standard peel-off 21527027 NOT_FOUND chr1 25961529 25965424 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MAN1C1 chr12 59618778 59619630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 59641861 59642861 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 59673113 59673213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59687485 59693368 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 25969202 25969292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1C1 chr12 5970000 7460000 Gain Breast cancer aCGH 21509527 ACRBP,ACSM4,ANO2,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,CD27,CD27-AS1,CD4,CD9,CDCA3,CHD4,CLSTN3,COPS7A,DSTNP2,EMG1,ENO2,GAPDH,GNB3,GPR162,IFFO1,ING4,LAG3,LEPREL2,LPAR5,LPCAT3,LRRC23,LTBR,MIR141,MIR200C,MLF2,MRPL51,NCAPD2,NOP2,PEX5,PHB2,PIANP,PLEKHG6,PTMS,PTPN6,RBP5,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SPSB2,TAPBPL,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384 chr12 59707038 59708038 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr12 59712049 59713049 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr1 25971457 26008790 Gain and loss Pancreatic cancer SNP array 17952125 MAN1C1 chr1 25971629 25971729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1C1 chr12 59726770 59726870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 25974830 25974933 Gain and loss Pancreatic cancer SNP array 17952125 MAN1C1 chr12 59755549 59755644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 25978320 25978819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAN1C1 chr12 59811222 59822375 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 59811222 59826901 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 59815224 59815324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5982000 6009934 Duplication Non-syndromic sensorineural hearing loss References 19212409 ANO2 chr12 59846330 59847330 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 59848988 59849193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 25985121 29490451 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 AHDC1,AIM1L,ARID1A,ATPIF1,AUNIP,C1orf172,CATSPER4,CD164L2,CD52,CEP85,CNKSR1,DHDDS,DNAJC8,EPB41,EXTL1,EYA3,FAM110D,FAM46B,FAM54B,FAM76A,FCN3,FGR,GMEB1,GPATCH3,GPN2,GPR3,HMGN2,IFI6,LIN28A,LOC644961,LOC646471,MAN1C1,MAP3K6,MED18,MIR1976,MIR3917,NR0B2,NUDC,OPRD1,PAFAH2,PAQR7,PDIK1L,PHACTR4,PIGV,PPP1R8,PTAFR,RAB42,RCC1,RNU11,RPA2,RPS6KA1,SCARNA1,SEPN1,SESN2,SFN,SH3BGRL3,SLC30A2,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STMN1,STX12,SYTL1,TAF12,THEMIS2,TMEM200B,TMEM222,TRIM63,TRNAU1AP,TRNP1,UBXN11,WASF2,WDTC1,XKR8,YTHDF2,ZDHHC18,ZNF593,ZNF683 chr1 25985743 28135259 LOH Normal High-resolution SNP genotyping 21211785 AHDC1,AIM1L,ARID1A,AUNIP,C1orf172,CATSPER4,CD164L2,CD52,CEP85,CNKSR1,DHDDS,EXTL1,FAM110D,FAM46B,FAM54B,FAM76A,FCN3,FGR,GPATCH3,GPN2,GPR3,HMGN2,IFI6,LIN28A,LOC644961,LOC646471,MAN1C1,MAP3K6,MIR1976,MIR3917,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,RPS6KA1,SEPN1,SFN,SH3BGRL3,SLC30A2,SLC9A1,STMN1,STX12,SYTL1,TMEM222,TRIM63,TRNP1,UBXN11,WASF2,WDTC1,ZDHHC18,ZNF593,ZNF683 chr12 59895086 59895186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 5995001 6289250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO2,VWF chr12 59964351 59995866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC16A7 chr1 25997615 26031056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAN1C1 chr12 59979882 59979982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 59981141 59993866 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC16A7 chr12 59981141 59998861 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC16A7 chr1 25999254 26017300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr1 25999254 26017300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr12 5999334 6601631 Copy number Lung cancer paired-end sequencing 18438408 ANO2,CD27,CD27-AS1,CD9,LTBR,MRPL51,PLEKHG6,SCNN1A,TAPBPL,TNFRSF1A,VAMP1,VWF chr12 60000 4050000 Loss Acute lymphoblastic leukemia - 21339820 ADIPOR2,B4GALNT3,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CCDC77,DCP1B,EFCAB4B,ERC1,FAM138D,FBXL14,FKBP4,FOXM1,IQSEC3,ITFG2,KDM5A,LOC100271702,LOC100288778,LOC100292680,LOC100507424,LOC283440,LOC574538,LRTM2,MIR3649,NINJ2,NRIP2,PARP11,PRMT8,RAD52,RHNO1,SLC6A12,SLC6A13,TEAD4,TSPAN9,TULP3,WNK1,WNT5B chr12 60009145 60010145 Gain Osteosarcoma References 21215367 SLC16A7 chr12 60022795 60023065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC16A7 chr12 60022796 60023065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC16A7 chr12 60035001 60037000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC16A7 chr12 60037001 61115500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC16A7 chr12 60072180 60357220 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 SLC16A7 chr12 6011693 6012002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANO2 chr12 60123239 60124239 Loss Osteosarcoma References 21215367 SLC16A7 chr1 26016849 26016931 Gain and loss Pancreatic cancer SNP array 17952125 MAN1C1 chr1 26016849 26016932 Gain and loss Pancreatic cancer SNP array 17952125 MAN1C1 chr1 26019028 26032016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr1 26020501 26219500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AUNIP,FAM54B,LOC646471,MAN1C1,PAQR7,SEPN1,STMN1 chr12 60215015 60215115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26021526 26021853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAN1C1 chr12 60279211 60279311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 60289548 60289648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 60315337 60315414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 60320633 60320721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26032418 26047074 Gain and loss Pancreatic cancer SNP array 17952125 MAN1C1 chr1 26033084 26058435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr1 26033084 26058435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr12 60331207 60331297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6034620 6034715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO2 chr12 60388307 60872818 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 60388322 60703829 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 60388331 60703829 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 60388331 60703829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 60388331 60703829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 60388899 60389899 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 26040430 26097220 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MAN1C1 chr12 60422051 60422201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 60428880 60429180 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 60434734 63935270 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AVPR1A,C12orf61,FAM19A2,MIRLET7I,MON2,PPM1H,USP15 chr12 6044822 6044919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO2 chr1 26046139 26082751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MAN1C1 chr1 26048660 26056618 Gain and loss Pancreatic cancer SNP array 17952125 MAN1C1 chr12 60488837 60497087 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 2604975 2727425 Gain and loss Pancreatic cancer SNP array 17952125 TTC34 chr12 60507564 61801281 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 60517601 61301900 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 26052307 26052407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1C1 chr12 60528050 60587738 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 60559299 60560820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 60559366 60560820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 60580682 60595889 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 60581124 60587726 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 60581136 60587738 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 60581299 60581484 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 60581303 60581487 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr12 6058570 6058650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWF chr1 26060015 26060115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1C1 chr1 26060289 26070331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr1 26060289 26070331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr1 26061940 26078263 Gain and loss Pancreatic cancer SNP array 17952125 MAN1C1 chr12 60654154 60687700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 60677828 60677928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 60680227 60680763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 60698937 60699037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 60701615 60702221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 60701713 60702031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6075126 6075397 Gain and loss Pancreatic cancer SNP array 17952125 VWF chr12 6075126 6075397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWF chr12 60758704 60800636 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr12 60758704 60800636 Amplification Normal Standard peel-off 21527027 NOT_FOUND chr1 26076574 26076683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr12 6088664 6088750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VWF chr12 60940405 61086165 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 60940453 61086165 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 60940453 61086165 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 60940453 61086165 Gain or loss Cancer - 20668451 NOT_FOUND chr12 60940453 61086165 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 60940453 61086165 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 60940453 61086165 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 60940453 61086165 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 60940454 61086165 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 60940454 61086165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 60940454 61086165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26099196 26105955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr1 26099196 26105955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN1C1 chr12 61014134 61014245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61014139 61014245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61014162 61014245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61015037 61050361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 26102907 26624823 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AUNIP,CATSPER4,CEP85,CNKSR1,EXTL1,FAM110D,FAM54B,LOC646471,MAN1C1,MIR3917,PAFAH2,PAQR7,PDIK1L,SEPN1,SH3BGRL3,SLC30A2,STMN1,TRIM63,UBXN11,ZNF593 chr1 26102907 26936965 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AIM1L,AUNIP,CATSPER4,CD52,CEP85,CNKSR1,DHDDS,EXTL1,FAM110D,FAM54B,HMGN2,LIN28A,LOC646471,MAN1C1,MIR1976,MIR3917,PAFAH2,PAQR7,PDIK1L,RPS6KA1,SEPN1,SH3BGRL3,SLC30A2,STMN1,TRIM63,UBXN11,ZNF593,ZNF683 chr12 61053596 61053826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61053711 61053811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61053818 61054074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61053831 61053931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6105770 6118534 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 VWF chr12 6105770 6118534 Total allelic loss Normal High-resolution SNP genotyping 21211785 VWF chr1 26109818 26109918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN1C1 chr12 61115501 61116500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 6111698 6118338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VWF chr12 6112654 6118295 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 VWF chr12 6113542 6117788 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 VWF chr12 61141001 61142000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61146864 61277630 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 61146864 61277630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61146864 61277630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61146867 61276798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61147501 61282500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61152602 61187718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 61193740 61194134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 26120817 26159427 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM54B,LOC646471,SEPN1 chr1 26122468 26136179 Gain and loss Pancreatic cancer SNP array 17952125 SEPN1 chr12 61225629 61225726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61225629 61225726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61276848 61288601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 61282501 61283500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61282990 61283385 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61282990 61283385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61283501 61356000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61283733 61283816 Deletion Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr12 61283733 61283816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61283733 61283817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61283733 61283817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61301901 61605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61309358 61309443 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr12 61324029 61614932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61324029 61614932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61324030 61614932 Copy number Lung cancer - 20668451 NOT_FOUND chr12 61324030 61614932 Copy number Normal Illumina Human610-Quad BeadChip 21660214 NOT_FOUND chr12 61324030 61614932 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 61324030 61614932 Gain or loss Cancer - 20668451 NOT_FOUND chr12 61324030 61614932 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 61324030 61614932 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 61324030 61614932 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 61324030 61614932 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 61324522 61351113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 61328469 61615197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61331222 61331314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61331222 61331314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61356001 61357500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61357501 61483000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61358024 61358079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 6137110 6137207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWF chr1 26138566 26167475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AUNIP,FAM54B,LOC646471,SEPN1 chr12 61400000 63400000 Copy number Normal - 21701786 C12orf61,FAM19A2,MIRLET7I,MON2,PPM1H,USP15 chr12 61400000 63400000 Deletion Man infertility - 21397064 C12orf61,FAM19A2,MIRLET7I,MON2,PPM1H,USP15 chr12 61400000 69800000 Microdeletion Mental retardation FISH, Array CGH 17220210 AVPR1A,C12orf56,C12orf61,C12orf66,CAND1,CPM,CPSF6,DPY19L2,DYRK2,FAM19A2,FLJ41278,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LEMD3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,NUP107,PPM1H,RAP1B,RASSF3,RPSAP52,SLC35E3,SNORA70G,SRGAP1,TBC1D30,TBK1,TMBIM4,TMEM5,USP15,WIF1,XPOT,YEATS4 chr12 61400000 69800000 Microdeletion Osteopoikilosis FISH, Array CGH 17220210 AVPR1A,C12orf56,C12orf61,C12orf66,CAND1,CPM,CPSF6,DPY19L2,DYRK2,FAM19A2,FLJ41278,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LEMD3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,NUP107,PPM1H,RAP1B,RASSF3,RPSAP52,SLC35E3,SNORA70G,SRGAP1,TBC1D30,TBK1,TMBIM4,TMEM5,USP15,WIF1,XPOT,YEATS4 chr12 61400000 69800000 Microdeletion short stature FISH, Array CGH 17220210 AVPR1A,C12orf56,C12orf61,C12orf66,CAND1,CPM,CPSF6,DPY19L2,DYRK2,FAM19A2,FLJ41278,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LEMD3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,MIR548C,MIR548Z,MIRLET7I,MON2,MSRB3,NUP107,PPM1H,RAP1B,RASSF3,RPSAP52,SLC35E3,SNORA70G,SRGAP1,TBC1D30,TBK1,TMBIM4,TMEM5,USP15,WIF1,XPOT,YEATS4 chr1 26140029 26152967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM54B,LOC646471,SEPN1 chr1 26140995 26141687 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SEPN1 chr12 61416203 61416303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61435277 61436280 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61435277 61436280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61438029 61438129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61444090 61444292 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr12 61483001 61614000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 26149615 27339472 LOH Normal High-resolution SNP genotyping 21211785 AIM1L,ARID1A,AUNIP,C1orf172,CATSPER4,CD52,CEP85,CNKSR1,DHDDS,EXTL1,FAM110D,FAM46B,FAM54B,GPATCH3,GPN2,HMGN2,LIN28A,LOC646471,MIR1976,MIR3917,NR0B2,NUDC,PAFAH2,PAQR7,PDIK1L,PIGV,RPS6KA1,SFN,SH3BGRL3,SLC30A2,STMN1,TRIM63,TRNP1,UBXN11,ZDHHC18,ZNF593,ZNF683 chr12 61509968 61530825 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 61518669 61518996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 61530785 61530948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61530785 61530948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61530786 61530948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61538003 61538103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61562047 61562147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26158845 26197235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AUNIP,FAM54B,PAQR7 chr1 26158845 26197235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AUNIP,FAM54B,PAQR7 chr12 61589374 61589449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61605501 62086200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61614001 61615500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61615501 61794000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61615748 61615846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61615748 61615847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61615748 61615849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26163275 26163378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AUNIP chr12 61645349 61646071 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 61645349 61646071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61645355 61646061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61647789 61647889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61650511 61650611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61683600 61684735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61683600 61684741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26169653 26173260 Gain and loss Pancreatic cancer SNP array 17952125 AUNIP chr12 61704024 61704131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61704105 61704146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61704187 61704287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6172174 7239121 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ACRBP,ATN1,C12orf57,C1R,C1S,CD27,CD27-AS1,CD4,CD9,CDCA3,CHD4,COPS7A,DSTNP2,EMG1,ENO2,GAPDH,GNB3,GPR162,IFFO1,ING4,LAG3,LEPREL2,LPAR5,LPCAT3,LRRC23,LTBR,MIR141,MIR200C,MLF2,MRPL51,NCAPD2,NOP2,PHB2,PIANP,PLEKHG6,PTMS,PTPN6,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SCNN1A,SPSB2,TAPBPL,TNFRSF1A,TPI1,USP5,VAMP1,VWF,ZNF384 chr12 61724591 82263925 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 ACSS3,ATXN7L3B,AVPR1A,BBS10,BEST3,C12orf56,C12orf61,C12orf66,CAND1,CAPS2,CCT2,CNOT2,CPM,CPSF6,CSRP2,DPY19L2,DYRK2,E2F7,FAM19A2,FLJ41278,FRS2,GLIPR1,GLIPR1L1,GLIPR1L2,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNC2,KCNMB4,KRR1,LEMD3,LGR5,LIN7A,LLPH,LOC100507250,LOC100507377,LRRC10,LYZ,MDM1,MDM2,MIR1252,MIR1279,MIR3913-1,MIR3913-2,MIR4699,MIR548C,MIR548Z,MIR5692B,MIR617,MIR618,MIRLET7I,MON2,MRS2P2,MSRB3,MYF5,MYF6,NAP1L1,NAV3,NUP107,OSBPL8,OTOGL,PAWR,PHLDA1,PPFIA2,PPM1H,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RAP1B,RASSF3,RPSAP52,SLC35E3,SNORA70G,SRGAP1,SYT1,TBC1D15,TBC1D30,TBK1,THAP2,TMBIM4,TMEM19,TMEM5,TPH2,TRHDE,TRHDE-AS1,TSPAN8,USP15,WIF1,XPOT,YEATS4,ZDHHC17,ZFC3H1 chr12 61778770 61778813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6179142 6222635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWF chr12 6179142 6222635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWF chr12 61794001 61830000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 6179816 6217688 Gain and loss Pancreatic cancer SNP array 17952125 VWF chr1 26180552 26181496 Gain and loss Pancreatic cancer SNP array 17952125 AUNIP chr12 61818349 61818449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61823732 61823829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61826482 61832857 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 61826482 61832857 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 61826482 61832857 Gain or loss Cancer - 20668451 NOT_FOUND chr12 61826482 61832857 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 61826482 61832857 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 61826482 61832857 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 61826482 61832857 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 61826483 61832857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61826483 61832857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 61826483 61832857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 61830001 61831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 61831001 62347500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A2 chr12 61838305 61838513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26188142 26200512 Gain and loss Pancreatic cancer SNP array 17952125 PAQR7 chr12 61900431 61900531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 61930601 62220763 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM19A2 chr1 26201261 26213175 Gain and loss Pancreatic cancer SNP array 17952125 STMN1 chr12 62016212 62048863 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 26202341 27453508 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AIM1L,ARID1A,C1orf172,CATSPER4,CD52,CEP85,CNKSR1,DHDDS,EXTL1,FAM110D,FAM46B,GPATCH3,GPN2,HMGN2,LIN28A,MIR1976,MIR3917,NR0B2,NUDC,PAFAH2,PDIK1L,PIGV,RPS6KA1,SFN,SH3BGRL3,SLC30A2,SLC9A1,STMN1,TRIM63,TRNP1,UBXN11,ZDHHC18,ZNF593,ZNF683 chr1 26205084 26205208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26205294 26205377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 62086201 62415100 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A2 chr12 62102441 62226007 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 FAM19A2 chr12 6213772 6213882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWF chr12 6213774 6213882 Gain and loss Pancreatic cancer SNP array 17952125 VWF chr12 6213775 6213882 Gain and loss Pancreatic cancer SNP array 17952125 VWF chr1 2621432 2646595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC34 chr12 62152134 62152221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A2 chr1 26219501 26246500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3917,STMN1 chr12 62196683 62538439 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM19A2 chr12 62198105 62432942 Deletion Schizophrenia NimbleGen HD2 platform 21346763 FAM19A2 chr1 26220858 26235537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3917,STMN1 chr1 26220858 26235537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3917,STMN1 chr12 62216979 62402835 Deletion Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 FAM19A2 chr12 62217008 62427366 Loss or gain Normal 244K array 17666407 FAM19A2 chr12 62218641 62538439 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM19A2 chr12 62219230 62225991 Gain Normal Birdsuite, version 1.5.2 22087296 FAM19A2 chr12 62222437 62428188 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62222437 62428188 Copy number gain Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62225991 62398390 Gain or loss Normal Birdsuite, version 1.5.2 22087296 FAM19A2 chr12 62225991 62431572 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A2 chr12 62226007 62414492 Duplication Normal Affymetrix 6.0 microarrays 20967226 FAM19A2 chr12 62226384 62428188 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62226384 62428188 Copy number gain Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62231438 62413118 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62231438 62413118 Copy number gain Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62231438 62428188 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62231438 62428188 Copy number gain Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62232997 62233223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A2 chr12 62236019 62413118 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62236019 62413118 Copy number gain Normal High-resolution SNP genotyping 21211785 FAM19A2 chr12 62236930 62422912 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FAM19A2 chr12 62238959 62348621 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM19A2 chr12 62238960 62348542 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A2 chr12 62238960 62348621 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM19A2 chr12 62238960 62348621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A2 chr12 62238960 62348621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A2 chr12 622408 624841 Gain and loss Pancreatic cancer SNP array 17952125 B4GALNT3 chr12 622409 625305 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B4GALNT3 chr12 622409 625305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B4GALNT3 chr12 62247705 62414492 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 FAM19A2 chr12 6226161 6226243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWF chr12 62285526 62285626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A2 chr12 62297750 62297850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A2 chr12 62305744 62305830 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A2 chr12 62305744 62305830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A2 chr12 6232178 6365032 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 CD9,VWF chr12 62343342 62374404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A2 chr12 62347501 62350000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A2 chr12 62350001 63084000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf61,FAM19A2,MIRLET7I,MON2,PPM1H,USP15 chr1 26237101 26245191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26237101 26245191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 62398390 62414492 Gain or loss Normal Birdsuite, version 1.5.2 22087296 FAM19A2 chr12 62414492 62422921 Loss Normal Birdsuite, version 1.5.2 22087296 FAM19A2 chr12 62414987 62415072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A2 chr12 62415101 63528300 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf61,FAM19A2,MIRLET7I,MON2,PPM1H,USP15 chr12 62417383 62417483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A2 chr12 62432809 62432909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A2 chr12 62435806 62954260 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM19A2,MON2,USP15 chr1 26244833 26289439 Gain and loss Pancreatic cancer SNP array 17952125 PAFAH2 chr12 62459856 62489142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A2 chr12 62459856 62489142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A2 chr12 62459903 62489154 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM19A2 chr12 62459904 62489154 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A2 chr12 62459931 62489567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM19A2 chr1 26246501 26354500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EXTL1,PAFAH2 chr12 62475711 62521233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A2 chr12 62482453 62488721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A2 chr12 62495020 62894076 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 FAM19A2,MON2,USP15 chr12 6249595 6249852 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 26250385 26266708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26250385 26266708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 62511051 62724712 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 FAM19A2,USP15 chr12 62524807 62827880 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM19A2,USP15 chr12 62524808 62823751 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM19A2,USP15 chr12 62524808 62823751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A2,USP15 chr12 62524808 62823751 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A2,USP15 chr12 62524808 62823751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A2,USP15 chr12 62539812 64205356 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AVPR1A,C12orf61,DPY19L2,FAM19A2,MIRLET7I,MON2,PPM1H,TMEM5,USP15 chr12 62564369 62577615 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM19A2 chr1 26257387 26257471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6264939 6755337 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ACRBP,CD27,CD27-AS1,CD9,CHD4,GAPDH,IFFO1,LPAR5,LTBR,MRPL51,NCAPD2,NOP2,PLEKHG6,SCARNA10,SCARNA11,SCNN1A,TAPBPL,TNFRSF1A,VAMP1 chr12 62677839 62710265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USP15 chr12 62708778 62724783 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 USP15 chr12 62743742 62744047 Loss Normal 244K array 17666407 USP15 chr12 62800000 85700000 Duplication abnormal development HR-CGH, Array-CGH 18461090 ACSS3,ALX1,ATXN7L3B,AVPR1A,BBS10,BEST3,C12orf56,C12orf61,C12orf66,CAND1,CAPS2,CCDC59,CCT2,CNOT2,CPM,CPSF6,CSRP2,DPY19L2,DYRK2,E2F7,FLJ41278,FRS2,GLIPR1,GLIPR1L1,GLIPR1L2,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNC2,KCNMB4,KRR1,LEMD3,LGR5,LIN7A,LLPH,LOC100507250,LOC100507377,LRRC10,LRRIQ1,LYZ,MDM1,MDM2,METTL25,MIR1252,MIR1279,MIR3913-1,MIR3913-2,MIR4699,MIR548C,MIR548Z,MIR5692B,MIR617,MIR618,MIRLET7I,MON2,MRS2P2,MSRB3,MYF5,MYF6,NAP1L1,NAV3,NUP107,OSBPL8,OTOGL,PAWR,PHLDA1,PPFIA2,PPM1H,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RAP1B,RASSF3,RPSAP52,SLC35E3,SLC6A15,SNORA70G,SRGAP1,SYT1,TBC1D15,TBC1D30,TBK1,THAP2,TMBIM4,TMEM19,TMEM5,TMTC2,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,USP15,WIF1,XPOT,YEATS4,ZDHHC17,ZFC3H1 chr12 62850425 62947127 Amplification Normal Arbitrated Peel-off 21527027 MON2 chr12 62850425 62947127 Amplification Normal Standard peel-off 21527027 MON2 chr12 62866365 62902312 Gain and loss Pancreatic cancer SNP array 17952125 MON2 chr12 62867626 62902319 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MON2 chr12 62867626 62902343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MON2 chr12 62867626 62902343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MON2 chr12 62872685 62902343 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MON2 chr12 62879876 62880055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MON2 chr1 2628834 2803326 Copy number Lung cancer paired-end sequencing 18438408 TTC34 chr12 62884840 62884946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MON2 chr12 62884842 62884918 Gain and loss Pancreatic cancer SNP array 17952125 MON2 chr12 62894076 64604316 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AVPR1A,C12orf61,C12orf66,DPY19L2,MIRLET7I,MON2,PPM1H,SRGAP1,TMEM5 chr1 26289809 26292149 Gain and loss Pancreatic cancer SNP array 17952125 PAFAH2 chr12 6289863 6307910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6289863 6307910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6289863 6307932 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 62908606 62908722 Gain and loss Pancreatic cancer SNP array 17952125 MON2 chr12 62908607 62908722 Gain and loss Pancreatic cancer SNP array 17952125 MON2 chr12 62922314 62922414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MON2 chr1 26292938 26317278 Gain and loss Pancreatic cancer SNP array 17952125 PAFAH2 chr12 62947030 63070558 Gain and loss Pancreatic cancer SNP array 17952125 C12orf61,MIRLET7I,MON2,PPM1H chr12 62947031 63070612 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C12orf61,MIRLET7I,MON2,PPM1H chr12 62947032 63070558 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C12orf61,MIRLET7I,MON2,PPM1H chr12 62947034 63070612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf61,MIRLET7I,MON2,PPM1H chr12 62947034 63070612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf61,MIRLET7I,MON2,PPM1H chr12 6298001 6511500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD9,LTBR,PLEKHG6,SCNN1A,TNFRSF1A chr12 6300580 6300675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 63014413 63014513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 63018219 63018840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63035811 63035912 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63035811 63035912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 63063671 63063766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1H chr12 6308183 6321522 Copy number Breast cancer Univariate Analysis 17375183 CD9 chr12 6308183 6321522 Copy number Fever qPCR-HRM 21124859 CD9 chr12 6308183 6321522 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CD9 chr12 6308183 6321522 Gain or loss Breast cancer - 20668451 CD9 chr12 6308183 6321522 Gain or loss Cancer - 20668451 CD9 chr12 6308183 6321522 Gain or loss Lung cancer - 20668451 CD9 chr12 6308183 6321522 Gain or loss Ovarian cancer - 20668451 CD9 chr12 6308183 6321522 Gain or loss Pancreas cancer - 20668451 CD9 chr12 6308183 6321522 Gain or loss Prostate cancer - 20668451 CD9 chr12 6308183 6321522 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CD9 chr12 6308185 6321522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD9 chr12 6308185 6321522 Gain and loss Pancreatic cancer SNP array 17952125 CD9 chr12 6308185 6321522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD9 chr12 63084001 63085000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPM1H chr12 63084499 63128730 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PPM1H chr12 63084500 63128728 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1H chr12 63084500 63128728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1H chr12 63084500 63128728 Gain and loss Pancreatic cancer SNP array 17952125 PPM1H chr12 63084500 63128728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1H chr12 63085001 63388000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPM1H chr1 26310913 26324608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAFAH2 chr1 26310913 26324608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAFAH2 chr12 63111361 63111461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1H chr12 63132167 63182153 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1H chr12 63132167 63182153 Gain and loss Pancreatic cancer SNP array 17952125 PPM1H chr12 63132203 63182158 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PPM1H chr12 63132203 63182158 Copy number Lung cancer - 20668451 PPM1H chr12 63132203 63182158 Gain or loss Breast cancer - 20668451 PPM1H chr12 63132203 63182158 Gain or loss Cancer - 20668451 PPM1H chr12 63132203 63182158 Gain or loss Lung cancer - 20668451 PPM1H chr12 63132203 63182158 Gain or loss Ovarian cancer - 20668451 PPM1H chr12 63132203 63182158 Gain or loss Pancreas cancer - 20668451 PPM1H chr12 63132203 63182158 Gain or loss Prostate cancer - 20668451 PPM1H chr12 63132204 63182158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1H chr12 63132204 63182158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1H chr12 63158096 63158196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1H chr12 63220192 63317157 Gain small cell lung cancer Real-time Quantitative PCR 17426248 PPM1H chr1 26322882 26323584 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PAFAH2 chr12 6324145 6534096 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD9,LTBR,PLEKHG6,SCNN1A,TNFRSF1A chr12 63255712 63255788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1H chr12 6326276 6354976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD9 chr12 6326276 6354976 Gain and loss Pancreatic cancer SNP array 17952125 CD9 chr12 6326276 6354976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD9 chr1 26328609 26331155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63290559 204829239 Gain or loss Breast cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,AVPR1A,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX51,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IL22,IL26,IL31,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MDM1,MDM2,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC35E3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA49,SNORA53,SNORA70G,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIF1,WSB2,WSCD2,XPOT,YEATS4,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 63290559 204829239 Gain or loss Cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,AVPR1A,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX51,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IL22,IL26,IL31,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MDM1,MDM2,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC35E3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA49,SNORA53,SNORA70G,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIF1,WSB2,WSCD2,XPOT,YEATS4,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 63290559 204829239 Gain or loss Lung cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,AVPR1A,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX51,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IL22,IL26,IL31,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MDM1,MDM2,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC35E3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA49,SNORA53,SNORA70G,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIF1,WSB2,WSCD2,XPOT,YEATS4,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 63290559 204829239 Gain or loss Ovarian cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,AVPR1A,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX51,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IL22,IL26,IL31,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MDM1,MDM2,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC35E3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA49,SNORA53,SNORA70G,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIF1,WSB2,WSCD2,XPOT,YEATS4,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 63290559 204829239 Gain or loss Pancreas cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,AVPR1A,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX51,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IL22,IL26,IL31,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MDM1,MDM2,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC35E3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA49,SNORA53,SNORA70G,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIF1,WSB2,WSCD2,XPOT,YEATS4,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 63290559 204829239 Gain or loss Prostate cancer - 20668451 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,AVPR1A,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf56,C12orf65,C12orf66,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAND1,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CPM,CPSF6,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX51,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DPY19L2,DRAM1,DTX1,DUSP6,DYNLL1,DYRK2,E2F7,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FLJ41278,FOXN4,FRS2,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GNS,GOLGA2P5,GOLGA3,GPN3,GPR133,GRIP1,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HELB,HIP1R,HMGA2,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFNG,IFT81,IGF1,IKBIP,IL22,IL26,IL31,IQCD,IRAK3,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LEMD3,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LLPH,LOC100128554,LOC100130238,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507250,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,LYZ,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MDM1,MDM2,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR1279,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MSRB3,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP107,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX2,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PGAM5,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPM1H,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PUS1,PWP1,PXMP2,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RAP1B,RASAL1,RASSF3,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RPSAP52,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC35E3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA49,SNORA53,SNORA70G,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRGAP1,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBC1D30,TBK1,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMBIM4,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMEM5,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WIF1,WSB2,WSCD2,XPOT,YEATS4,ZCCHC8,ZDHHC17,ZFC3H1,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 63290560 63375459 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1H chr12 63290560 63375459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1H chr12 63290560 63375459 Gain and loss Pancreatic cancer SNP array 17952125 PPM1H chr12 63290560 63375459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1H chr12 63300097 91514464 Loss Prostate cancer Array CGH 18632612 ACSS3,ALX1,ATP2B1,ATXN7L3B,AVPR1A,BBS10,BEST3,C12orf29,C12orf50,C12orf56,C12orf66,CAND1,CAPS2,CCDC59,CCER1,CCT2,CEP290,CNOT2,CPM,CPSF6,CSRP2,DPY19L2,DUSP6,DYRK2,E2F7,EPYC,FLJ41278,FRS2,GALNT4,GLIPR1,GLIPR1L1,GLIPR1L2,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNC2,KCNMB4,KERA,KITLG,KRR1,LEMD3,LGR5,LIN7A,LINC00615,LLPH,LOC100507250,LOC100507377,LOC338758,LOC728084,LRRC10,LRRIQ1,LUM,LYZ,MDM1,MDM2,METTL25,MGAT4C,MIR1252,MIR1279,MIR3913-1,MIR3913-2,MIR4699,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR617,MIR618,MKRN9P,MRS2P2,MSRB3,MYF5,MYF6,NAP1L1,NAV3,NTS,NUP107,OSBPL8,OTOGL,PAWR,PHLDA1,POC1B,POC1B-GALNT4,PPFIA2,PPM1H,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RAP1B,RASSF3,RASSF9,RPSAP52,SLC35E3,SLC6A15,SNORA70G,SRGAP1,SYT1,TBC1D15,TBC1D30,TBK1,THAP2,TMBIM4,TMEM19,TMEM5,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,WIF1,XPOT,YEATS4,ZDHHC17,ZFC3H1 chr12 63302556 63302652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1H chr12 63303730 63304746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPM1H chr12 63317157 63984718 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AVPR1A,DPY19L2,PPM1H chr1 26332157 26337219 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 63323066 63324071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPM1H chr1 26332492 26354484 Gain and loss Pancreatic cancer SNP array 17952125 EXTL1 chr1 26332682 26337394 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 26332683 26337356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 26333039 26333369 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr12 63376456 63376596 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 63388001 74145000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AVPR1A,BEST3,C12orf56,C12orf66,CAND1,CCT2,CNOT2,CPM,CPSF6,DPY19L2,DYRK2,FLJ41278,FRS2,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNMB4,LEMD3,LGR5,LLPH,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,MIR548C,MIR548Z,MRS2P2,MSRB3,NUP107,PTPRB,PTPRR,RAB21,RAB3IP,RAP1B,RASSF3,RPSAP52,SLC35E3,SNORA70G,SRGAP1,TBC1D15,TBC1D30,TBK1,THAP2,TMBIM4,TMEM19,TMEM5,TPH2,TRHDE,TRHDE-AS1,TSPAN8,WIF1,XPOT,YEATS4,ZFC3H1 chr12 63393491 63439479 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 63393491 63439479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 63393491 63439479 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63393491 63439479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 633993 639389 Copy number Autism exome sequencing 22495311 B4GALNT3 chr12 63400000 66000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AVPR1A,C12orf56,C12orf66,DPY19L2,FLJ41278,GNS,LEMD3,MIR548C,MIR548Z,MSRB3,RASSF3,SRGAP1,TBC1D30,TBK1,TMEM5,WIF1,XPOT chr12 63400000 66000000 Duplication Heart disease Illumina 625Quad Beadchip platform 21282601 AVPR1A,C12orf56,C12orf66,DPY19L2,FLJ41278,GNS,LEMD3,MIR548C,MIR548Z,MSRB3,RASSF3,SRGAP1,TBC1D30,TBK1,TMEM5,WIF1,XPOT chr12 63400000 69800000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 AVPR1A,C12orf56,C12orf66,CAND1,CPM,CPSF6,DPY19L2,DYRK2,FLJ41278,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LEMD3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,MIR548C,MIR548Z,MSRB3,NUP107,RAP1B,RASSF3,RPSAP52,SLC35E3,SNORA70G,SRGAP1,TBC1D30,TBK1,TMBIM4,TMEM5,WIF1,XPOT,YEATS4 chr12 63400000 91200000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ACSS3,ALX1,ATP2B1,ATXN7L3B,AVPR1A,BBS10,BEST3,C12orf29,C12orf50,C12orf56,C12orf66,CAND1,CAPS2,CCDC59,CCT2,CEP290,CNOT2,CPM,CPSF6,CSRP2,DPY19L2,DUSP6,DYRK2,E2F7,FLJ41278,FRS2,GALNT4,GLIPR1,GLIPR1L1,GLIPR1L2,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNC2,KCNMB4,KITLG,KRR1,LEMD3,LGR5,LIN7A,LLPH,LOC100507250,LOC100507377,LOC338758,LOC728084,LRRC10,LRRIQ1,LYZ,MDM1,MDM2,METTL25,MGAT4C,MIR1252,MIR1279,MIR3913-1,MIR3913-2,MIR4699,MIR548AL,MIR548C,MIR548Z,MIR5692B,MIR617,MIR618,MKRN9P,MRS2P2,MSRB3,MYF5,MYF6,NAP1L1,NAV3,NTS,NUP107,OSBPL8,OTOGL,PAWR,PHLDA1,POC1B,POC1B-GALNT4,PPFIA2,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RAP1B,RASSF3,RASSF9,RPSAP52,SLC35E3,SLC6A15,SNORA70G,SRGAP1,SYT1,TBC1D15,TBC1D30,TBK1,THAP2,TMBIM4,TMEM19,TMEM5,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,WIF1,XPOT,YEATS4,ZDHHC17,ZFC3H1 chr12 63421095 63421270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 63440918 63441020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63440918 63441020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6345909 6345989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD9 chr12 63466058 63558350 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AVPR1A chr12 63466058 63558350 Gain and loss Pancreatic cancer SNP array 17952125 AVPR1A chr12 63466058 63558350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AVPR1A chr12 63492910 63553868 Amplification Normal Arbitrated Peel-off 21527027 AVPR1A chr12 63528301 63831900 Copy number Normal ReadDepth: A Parallel R Package 21305028 AVPR1A chr1 26354501 26390000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EXTL1,SLC30A2,TRIM63 chr1 26356066 26357290 Gain and loss Pancreatic cancer SNP array 17952125 EXTL1 chr1 2635619 2641005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC34 chr12 63568961 63569062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26358098 26361705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXTL1 chr1 26358098 26361705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXTL1 chr12 63592478 63625960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 63598201 63598296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 63602935 63603035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 63604029 63604195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63619070 63619138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63619070 63619138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 63619070 63619197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26362400 26362725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EXTL1 chr12 63630497 63630632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6363589 6370990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6363595 6370994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6363595 6370994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6363617 6370993 Copy number Lung cancer - 20668451 NOT_FOUND chr12 6363617 6370993 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 6363617 6370993 Gain or loss Cancer - 20668451 NOT_FOUND chr12 6363617 6370993 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 6363617 6370993 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 6363617 6370993 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 6363617 6370993 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 6363617 6370993 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 6365809 6365909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26369017 26371138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC30A2 chr1 26369017 26371138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC30A2 chr1 26369726 26369826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC30A2 chr1 26372268 26383408 Gain and loss Pancreatic cancer SNP array 17952125 SLC30A2,TRIM63 chr12 63730672 63801383 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 63730672 63801383 Gain or loss Cancer - 20668451 NOT_FOUND chr12 63730672 63801383 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 63730672 63801383 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 63730672 63801383 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 63730672 63801383 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 63730674 63801383 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 63730674 63801383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 63730674 63801383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63730674 63801383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 63750211 64381552 LOH Normal High-resolution SNP genotyping 21211785 DPY19L2,SRGAP1,TMEM5 chr12 6376564 6378353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 26376590 26388957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM63 chr1 26376590 26388957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM63 chr1 26377344 27532551 Deletion Cancer Affymetrix 250K Sty array 20164920 AIM1L,ARID1A,C1orf172,CATSPER4,CD52,CEP85,CNKSR1,DHDDS,FAM110D,FAM46B,GPATCH3,GPN2,HMGN2,LIN28A,MIR1976,NR0B2,NUDC,PDIK1L,PIGV,RPS6KA1,SFN,SH3BGRL3,SLC9A1,TRIM63,TRNP1,UBXN11,ZDHHC18,ZNF593,ZNF683 chr12 63775796 63775902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63775796 63775902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 63791929 65152026 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf56,C12orf66,DPY19L2,GNS,MIR548C,MIR548Z,RASSF3,SRGAP1,TBK1,TMEM5,XPOT chr12 63819741 63819841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 63831901 68841300 Copy number Normal ReadDepth: A Parallel R Package 21305028 C12orf56,C12orf66,CAND1,DPY19L2,DYRK2,FLJ41278,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LEMD3,LLPH,MDM1,MIR548C,MIR548Z,MSRB3,RASSF3,RPSAP52,SRGAP1,TBC1D30,TBK1,TMBIM4,TMEM5,WIF1,XPOT chr12 63849638 63928374 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 63849638 63928374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 63849638 63928374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 63849638 63928374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 63866742 63866842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 63882712 74052886 Amplification Breast cancer Array CGH 16620391 BEST3,C12orf56,C12orf66,CAND1,CCT2,CNOT2,CPM,CPSF6,DPY19L2,DYRK2,FLJ41278,FRS2,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNMB4,LEMD3,LGR5,LLPH,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,MIR548C,MIR548Z,MRS2P2,MSRB3,NUP107,PTPRB,PTPRR,RAB21,RAB3IP,RAP1B,RASSF3,RPSAP52,SLC35E3,SNORA70G,SRGAP1,TBC1D15,TBC1D30,TBK1,THAP2,TMBIM4,TMEM19,TMEM5,TPH2,TRHDE,TRHDE-AS1,TSPAN8,WIF1,XPOT,YEATS4,ZFC3H1 chr12 6389064 6389440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6389064 6389440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26389261 26393741 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TRIM63 chr1 26389706 26401620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM63 chr1 26389706 26401620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM63 chr1 26390001 26478000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDIK1L,TRIM63 chr12 63920060 63920318 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 26394732 26394832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 63958755 64146945 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DPY19L2 chr12 63958755 64146945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPY19L2 chr12 63958755 64146945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPY19L2 chr12 63958771 64146947 Gain and loss Pancreatic cancer SNP array 17952125 DPY19L2 chr12 63973341 63976152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPY19L2 chr12 640501 673000 Copy number Normal ReadDepth: A Parallel R Package 21305028 B4GALNT3 chr12 6408591 6408978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 64099396 64100113 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 64119644 64165347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 64138725 64172039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 64150295 64150389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 64170512 64197722 Amplification Normal Arbitrated Peel-off 21527027 TMEM5 chr12 64170512 64197722 Amplification Normal Standard peel-off 21527027 TMEM5 chr12 64177908 64186235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM5 chr12 6417926 6418254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6418427 6430944 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PLEKHG6 chr12 6418601 6422587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG6 chr12 6419419 6419475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 64195337 64222998 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM5 chr12 64211115 64562088 Gain and loss Pancreatic cancer SNP array 17952125 SRGAP1 chr1 26421450 26440352 Gain and loss Pancreatic cancer SNP array 17952125 PDIK1L chr12 6424311 6431145 Gain or loss Breast cancer - 20668451 PLEKHG6 chr12 6424311 6431145 Gain or loss Cancer - 20668451 PLEKHG6 chr12 6424311 6431145 Gain or loss Lung cancer - 20668451 PLEKHG6 chr12 6424311 6431145 Gain or loss Ovarian cancer - 20668451 PLEKHG6 chr12 6424311 6431145 Gain or loss Pancreas cancer - 20668451 PLEKHG6 chr12 6424311 6431145 Gain or loss Prostate cancer - 20668451 PLEKHG6 chr12 6424312 6431145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG6 chr12 6424312 6431145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG6 chr12 6424327 6431144 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHG6 chr12 6425495 6450104 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHG6,TNFRSF1A chr12 64263728 66931770 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 C12orf56,C12orf66,FLJ41278,GNS,GRIP1,HELB,HMGA2,IRAK3,LEMD3,LLPH,MIR548C,MIR548Z,MSRB3,RASSF3,RPSAP52,SRGAP1,TBC1D30,TBK1,TMBIM4,WIF1,XPOT chr12 64286401 64286486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP1 chr12 64303140 64303282 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 SRGAP1 chr12 6431520 6441726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG6,TNFRSF1A chr12 6431520 6441726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG6,TNFRSF1A chr12 6431676 6445872 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHG6,TNFRSF1A chr12 64326034 64326505 Gain and loss Pancreatic cancer SNP array 17952125 SRGAP1 chr12 64326034 64326505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGAP1 chr1 26433280 26477884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDIK1L chr1 26433280 26477884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIK1L chr12 64335456 64335501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP1 chr12 6440603 6450326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF1A chr12 6440603 6450326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF1A chr12 6441664 6450104 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TNFRSF1A chr12 64426481 65011415 LOH Normal High-resolution SNP genotyping 21211785 C12orf56,C12orf66,RASSF3,SRGAP1,TBK1,XPOT chr1 26442915 26481935 Gain and loss Pancreatic cancer SNP array 17952125 PDIK1L chr12 64438069 64507021 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SRGAP1 chr12 64438070 64507021 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRGAP1 chr12 64438070 64507021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGAP1 chr12 64453013 64476093 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SRGAP1 chr1 26445832 26445916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIK1L chr12 64461446 64607139 Amplification Cancer Affymetrix 250K Sty array 20164920 C12orf66,SRGAP1 chr12 64465871 64465928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP1 chr12 64487645 64529768 Amplification Normal Arbitrated Peel-off 21527027 SRGAP1 chr12 64487645 64529768 Amplification Normal Standard peel-off 21527027 SRGAP1 chr12 64502447 64502747 Loss Osteosarcoma References 21215367 SRGAP1 chr12 64503703 64646338 Amplification Normal GISTIC2.0 21527027 C12orf66,SRGAP1 chr12 64503703 64646338 Amplified Liposarcoma FISH, CGH 21253554 C12orf66,SRGAP1 chr12 64503703 64646338 Copy number Gastric cancer Human cDNA microarrays 17229543 C12orf66,SRGAP1 chr12 64503703 64646338 Duplication Uterine leiomyoma Affymetrix human U133 plus 2.0 expression arrays 18403592 C12orf66,SRGAP1 chr12 64504506 64646338 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C12orf66,SRGAP1 chr12 64504507 64595566 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C12orf66,SRGAP1 chr12 64504507 64646335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf66,SRGAP1 chr12 64504507 64646335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf66,SRGAP1 chr12 64505318 64595573 Gain and loss Pancreatic cancer SNP array 17952125 C12orf66,SRGAP1 chr12 64506231 64506531 Gain Osteosarcoma References 21215367 SRGAP1 chr12 64518570 64643421 Amplification or deletion Cancer Array CGH 17440070 C12orf66,SRGAP1 chr12 64535994 64562088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRGAP1 chr12 64535994 64562088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGAP1 chr12 6453648 6492607 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 LTBR,SCNN1A chr12 64538060 64538179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRGAP1 chr12 64577785 64604234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C12orf66 chr12 64587875 64587965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf66 chr1 26459850 26496914 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM110D,ZNF593 chr12 64620042 71645433 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 BEST3,C12orf56,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FLJ41278,FRS2,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNMB4,LEMD3,LLPH,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,MIR548C,MIR548Z,MSRB3,NUP107,PTPRB,PTPRR,RAB3IP,RAP1B,RASSF3,RPSAP52,SLC35E3,SNORA70G,TBC1D30,TBK1,TMBIM4,TSPAN8,WIF1,XPOT,YEATS4 chr12 646440 652912 Gain Normal Birdsuite, version 1.5.2 22087296 B4GALNT3 chr12 6471579 6472718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCNN1A chr12 6471579 6472718 Gain and loss Pancreatic cancer SNP array 17952125 SCNN1A chr12 6471579 6472718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCNN1A chr12 64717273 64717761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf56 chr12 64717282 64717761 Gain and loss Pancreatic cancer SNP array 17952125 C12orf56 chr12 6472806 6511381 Gain and loss Pancreatic cancer SNP array 17952125 LTBR,SCNN1A chr12 6473529 6511381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LTBR,SCNN1A chr12 6473529 6511381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBR,SCNN1A chr12 6473558 6511393 Gain or loss Breast cancer - 20668451 LTBR,SCNN1A chr12 6473558 6511393 Gain or loss Cancer - 20668451 LTBR,SCNN1A chr12 6473558 6511393 Gain or loss Lung cancer - 20668451 LTBR,SCNN1A chr12 6473558 6511393 Gain or loss Ovarian cancer - 20668451 LTBR,SCNN1A chr12 6473558 6511393 Gain or loss Pancreas cancer - 20668451 LTBR,SCNN1A chr12 6473558 6511393 Gain or loss Prostate cancer - 20668451 LTBR,SCNN1A chr12 64737640 64737705 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C12orf56 chr12 64744829 64744929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf56 chr12 6475366 6497677 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LTBR,SCNN1A chr12 64774153 64774253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf56 chr1 26478001 26501000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM110D,ZNF593 chr1 26478833 26480599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26478833 26480599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 64803109 64810800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 XPOT chr12 64803109 64810800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPOT chr12 64803109 64810800 Gain and loss Pancreatic cancer SNP array 17952125 XPOT chr12 64803109 64810800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPOT chr12 64803116 64810800 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 XPOT chr12 64803540 64804062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPOT chr12 64803687 64804019 Gain and loss Pancreatic cancer SNP array 17952125 XPOT chr12 64812001 64817800 Deletion Glioma mate-paired sequence 20126413 XPOT chr1 26481360 26517441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPER4,CNKSR1,FAM110D,ZNF593 chr1 26481360 26517441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPER4,CNKSR1,FAM110D,ZNF593 chr12 64813903 64816143 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XPOT chr12 64816983 64850074 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TBK1,XPOT chr12 64816985 64850074 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBK1,XPOT chr12 64816985 64850074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBK1,XPOT chr12 64816985 64850074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBK1,XPOT chr12 64817459 64850045 Gain and loss Pancreatic cancer SNP array 17952125 TBK1,XPOT chr12 64817884 64824032 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 XPOT chr12 64817884 64824032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPOT chr1 26483056 26486603 Gain and loss Pancreatic cancer SNP array 17952125 FAM110D chr12 6483598 6483659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCNN1A chr12 64847147 67368862 Deletion Normal Arbitrated Peel-off 21527027 FLJ41278,GNS,GRIP1,HELB,HMGA2,IRAK3,LEMD3,LLPH,MIR548C,MIR548Z,MSRB3,RASSF3,RPSAP52,TBC1D30,TBK1,TMBIM4,WIF1 chr12 64856770 64856870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBK1 chr12 64869244 64934659 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TBK1 chr12 64869270 64928684 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBK1 chr12 64869270 64928684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBK1 chr12 64869270 64928684 Gain and loss Pancreatic cancer SNP array 17952125 TBK1 chr12 64869270 64928684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBK1 chr12 64869283 64928652 Gain or loss Breast cancer - 20668451 TBK1 chr12 64869283 64928652 Gain or loss Cancer - 20668451 TBK1 chr12 64869283 64928652 Gain or loss Lung cancer - 20668451 TBK1 chr12 64869283 64928652 Gain or loss Ovarian cancer - 20668451 TBK1 chr12 64869283 64928652 Gain or loss Pancreas cancer - 20668451 TBK1 chr12 64869283 64928652 Gain or loss Prostate cancer - 20668451 TBK1 chr12 64889707 64889761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBK1 chr1 2648927 2650346 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC34 chr12 64895742 64896042 Loss Osteosarcoma References 21215367 TBK1 chr12 64896001 64897001 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 6489649 6489978 Gain and loss Pancreatic cancer SNP array 17952125 LTBR chr12 64914120 64915181 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 64914120 64915241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 64951985 64952085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 64955980 64956690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 64964793 64964870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 64972730 64972972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 64972730 64973034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 64972730 64973061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 64978487 65093419 Gain Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 MIR548C,MIR548Z,RASSF3 chr12 64982622 65018225 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MIR548C,MIR548Z,RASSF3 chr12 64982623 65018225 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548C,MIR548Z,RASSF3 chr12 64982623 65018225 Gain and loss Pancreatic cancer SNP array 17952125 MIR548C,MIR548Z,RASSF3 chr12 64982627 65018270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548C,MIR548Z,RASSF3 chr12 64982627 65018270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548C,MIR548Z,RASSF3 chr12 6500456 6502156 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LTBR chr1 26501001 26541500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CATSPER4,CNKSR1 chr12 65025766 65025866 Gain and loss Pancreatic cancer SNP array 17952125 RASSF3 chr12 65025766 65025866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASSF3 chr12 65027490 65359192 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FLJ41278,GNS,RASSF3,TBC1D30 chr12 65028872 65359192 Gain and loss Pancreatic cancer SNP array 17952125 FLJ41278,GNS,RASSF3,TBC1D30 chr12 65029066 65359020 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ41278,GNS,RASSF3,TBC1D30 chr12 65029066 65359020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ41278,GNS,RASSF3,TBC1D30 chr12 65029066 65359020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ41278,GNS,RASSF3,TBC1D30 chr1 2650682 2653461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC34 chr12 65078242 65080397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RASSF3 chr12 6508128 7462590 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACRBP,ACSM4,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,CD27,CD27-AS1,CD4,CDCA3,CHD4,CLSTN3,COPS7A,DSTNP2,EMG1,ENO2,GAPDH,GNB3,GPR162,IFFO1,ING4,LAG3,LEPREL2,LPAR5,LPCAT3,LRRC23,MIR141,MIR200C,MLF2,MRPL51,NCAPD2,NOP2,PEX5,PHB2,PIANP,PTMS,PTPN6,RBP5,RPL13P5,SCARNA10,SCARNA11,SCARNA12,SPSB2,TAPBPL,TPI1,USP5,VAMP1,ZNF384 chr12 65082351 65082436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASSF3 chr12 65093612 65093712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 65100000 67700000 Copy number Neuroticism SNP array 17667963 CAND1,FLJ41278,GNS,GRIP1,HELB,HMGA2,IRAK3,LEMD3,LLPH,MSRB3,RPSAP52,TBC1D30,TMBIM4,WIF1 chr12 65100000 92600000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ACSS3,ALX1,ATP2B1,ATXN7L3B,BBS10,BEST3,BTG1,C12orf29,C12orf50,CAND1,CAPS2,CCDC59,CCER1,CCT2,CEP290,CNOT2,CPM,CPSF6,CSRP2,DCN,DUSP6,DYRK2,E2F7,EPYC,FLJ41278,FRS2,GALNT4,GLIPR1,GLIPR1L1,GLIPR1L2,GNS,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNC2,KCNMB4,KERA,KITLG,KRR1,LEMD3,LGR5,LIN7A,LINC00615,LLPH,LOC100507250,LOC100507377,LOC256021,LOC338758,LOC728084,LRRC10,LRRIQ1,LUM,LYZ,MDM1,MDM2,METTL25,MGAT4C,MIR1252,MIR1279,MIR3913-1,MIR3913-2,MIR4699,MIR548AL,MIR5692B,MIR617,MIR618,MKRN9P,MRS2P2,MSRB3,MYF5,MYF6,NAP1L1,NAV3,NTS,NUP107,OSBPL8,OTOGL,PAWR,PHLDA1,POC1B,POC1B-GALNT4,PPFIA2,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RAP1B,RASSF9,RPSAP52,SLC35E3,SLC6A15,SNORA70G,SYT1,TBC1D15,TBC1D30,THAP2,TMBIM4,TMEM19,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,WIF1,YEATS4,ZDHHC17,ZFC3H1 chr12 65137711 66295979 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ41278,GNS,HMGA2,LEMD3,MSRB3,RPSAP52,TBC1D30,WIF1 chr12 6513917 6517797 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 6513918 6517797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6513918 6517797 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6513918 6517797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 65140608 65140708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNS chr1 26516998 26519600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPER4 chr1 26516998 26519600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPER4 chr12 6517802 6535490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 65181676 65197429 Loss Normal 244K array 17666407 NOT_FOUND chr12 6518955 6535498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6518955 6535498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6520501 6846500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACRBP,CD27,CD27-AS1,CHD4,COPS7A,GAPDH,IFFO1,ING4,LPAR5,MRPL51,NCAPD2,NOP2,PIANP,SCARNA10,SCARNA11,TAPBPL,VAMP1,ZNF384 chr1 26520937 26542929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPER4 chr1 26520937 26542929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPER4 chr12 65220724 65220824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D30 chr12 65238670 65239670 Loss Osteosarcoma References 21215367 TBC1D30 chr12 65249564 65257291 Loss Normal Birdsuite, version 1.5.2 22087296 TBC1D30 chr12 65253483 65254483 Loss Osteosarcoma References 21215367 TBC1D30 chr12 65279429 66603891 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ41278,HMGA2,IRAK3,LEMD3,LLPH,MSRB3,RPSAP52,TMBIM4,WIF1 chr12 65283127 65284127 Loss Osteosarcoma References 21215367 FLJ41278 chr12 65283806 65283906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ41278 chr12 652912 668476 Gain Normal Birdsuite, version 1.5.2 22087296 B4GALNT3 chr12 65312973 65313973 Loss Osteosarcoma References 21215367 FLJ41278 chr12 65313009 65314009 Loss Osteosarcoma References 21215367 FLJ41278 chr12 6536290 6547680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6536290 6547741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6536290 6547741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6536297 6547741 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 65369721 65370721 Loss Osteosarcoma References 21215367 FLJ41278 chr1 26540400 26585656 Gain and loss Pancreatic cancer SNP array 17952125 CEP85 chr12 65412680 65413680 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 26541501 26570000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP85 chr12 65423182 65423282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26543492 26553174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26543492 26553174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26544093 26544245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 65455784 65455879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WIF1 chr12 65487940 72585436 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BEST3,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNMB4,LEMD3,LGR5,LLPH,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,MRS2P2,MSRB3,NUP107,PTPRB,PTPRR,RAB21,RAB3IP,RAP1B,RPSAP52,SLC35E3,SNORA70G,TBC1D15,THAP2,TMBIM4,TMEM19,TPH2,TSPAN8,WIF1,YEATS4,ZFC3H1 chr12 6549510 6586795 Gain and loss Pancreatic cancer SNP array 17952125 CD27,CD27-AS1,TAPBPL,VAMP1 chr12 6549510 6586812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD27,CD27-AS1,TAPBPL,VAMP1 chr12 6549510 6586812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD27,CD27-AS1,TAPBPL,VAMP1 chr12 65511762 65540471 Amplification Normal Arbitrated Peel-off 21527027 WIF1 chr12 6553341 6553419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD27-AS1 chr12 65568084 65568184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEMD3 chr12 65570296 65571296 Gain Osteosarcoma References 21215367 LEMD3 chr12 6558470 6558604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CD27,CD27-AS1 chr12 65588927 65609827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LEMD3 chr1 26560712 26571853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP85 chr1 26560712 26571853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP85 chr12 6560900 6561036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6560901 6561036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 65622693 65806729 Gain Normal Birdsuite, version 1.5.2 22087296 LEMD3,MSRB3 chr12 65629910 65630910 Loss Osteosarcoma References 21215367 LEMD3 chr1 26570001 26610000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP85,SH3BGRL3,UBXN11 chr12 65735399 65735489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MSRB3 chr1 26576685 28118978 LOH Normal High-resolution SNP genotyping 21211785 AHDC1,AIM1L,ARID1A,C1orf172,CD164L2,CD52,CEP85,DHDDS,FAM46B,FAM76A,FCN3,FGR,GPATCH3,GPN2,GPR3,HMGN2,IFI6,LIN28A,LOC644961,MAP3K6,MIR1976,NR0B2,NUDC,PIGV,RPS6KA1,SFN,SH3BGRL3,SLC9A1,STX12,SYTL1,TMEM222,TRNP1,UBXN11,WASF2,WDTC1,ZDHHC18,ZNF683 chr12 65789899 65790899 Gain Osteosarcoma References 21215367 MSRB3 chr12 65807925 65879084 Gain Normal Birdsuite, version 1.5.2 22087296 MSRB3 chr12 65812865 65812965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSRB3 chr12 65823085 65823319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MSRB3 chr12 65874484 65951365 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr12 65874484 65951365 Amplification Normal Standard peel-off 21527027 NOT_FOUND chr12 65907084 65907184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 65919665 65920665 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 65949416 65994187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 65949426 65994658 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 65949426 65994658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 65949426 65994658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6598262 6615548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL51,NCAPD2 chr12 6598262 6615548 Gain and loss Pancreatic cancer SNP array 17952125 MRPL51,NCAPD2 chr12 6598262 6615548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL51,NCAPD2 chr12 65989854 66031010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 66000000 69800000 Amplification Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Amplification Congenital anomalies of the kidney and urinary tract dual-color FISH 21113617 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Amplification Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Amplification Normal - 22101487 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Amplification Urothelial cell carcinoma FISH 18451213 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Gain Lung cancer Array CGH 17925434 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Gain Myxofibrosarcoma Array CGH 16751306 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 69800000 Loss Myxofibrosarcoma Array CGH 16751306 CAND1,CPM,CPSF6,DYRK2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,LLPH,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,RPSAP52,SLC35E3,SNORA70G,TMBIM4,YEATS4 chr12 66000000 78700000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 ATXN7L3B,BBS10,BEST3,CAND1,CAPS2,CCT2,CNOT2,CPM,CPSF6,CSRP2,DYRK2,E2F7,FRS2,GLIPR1,GLIPR1L1,GLIPR1L2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNC2,KCNMB4,KRR1,LGR5,LLPH,LOC100507250,LOC100507377,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,MRS2P2,NAP1L1,NAV3,NUP107,OSBPL8,PHLDA1,PTPRB,PTPRR,RAB21,RAB3IP,RAP1B,RPSAP52,SLC35E3,SNORA70G,TBC1D15,THAP2,TMBIM4,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,YEATS4,ZDHHC17,ZFC3H1 chr12 66000000 91200000 Loss Metanephric adenoma Oligo aCGH 20802469 ACSS3,ALX1,ATP2B1,ATXN7L3B,BBS10,BEST3,C12orf29,C12orf50,CAND1,CAPS2,CCDC59,CCT2,CEP290,CNOT2,CPM,CPSF6,CSRP2,DUSP6,DYRK2,E2F7,FRS2,GALNT4,GLIPR1,GLIPR1L1,GLIPR1L2,GRIP1,HELB,HMGA2,IFNG,IL22,IL26,IRAK3,KCNC2,KCNMB4,KITLG,KRR1,LGR5,LIN7A,LLPH,LOC100507250,LOC100507377,LOC338758,LOC728084,LRRC10,LRRIQ1,LYZ,MDM1,MDM2,METTL25,MGAT4C,MIR1252,MIR1279,MIR3913-1,MIR3913-2,MIR4699,MIR548AL,MIR5692B,MIR617,MIR618,MKRN9P,MRS2P2,MYF5,MYF6,NAP1L1,NAV3,NTS,NUP107,OSBPL8,OTOGL,PAWR,PHLDA1,POC1B,POC1B-GALNT4,PPFIA2,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RAP1B,RASSF9,RPSAP52,SLC35E3,SLC6A15,SNORA70G,SYT1,TBC1D15,THAP2,TMBIM4,TMEM19,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,YEATS4,ZDHHC17,ZFC3H1 chr12 66003117 66004117 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 66006029 66007029 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 66007517 66041452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 66023883 66024883 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 66032035 66033035 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 26603878 26604179 Gain and loss Pancreatic cancer SNP array 17952125 CEP85 chr1 26604575 26604673 Gain and loss Pancreatic cancer SNP array 17952125 CEP85 chr1 26604575 26604674 Gain and loss Pancreatic cancer SNP array 17952125 CEP85 chr12 66052691 66052791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 66052914 66053048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 66052914 66053048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26609856 26628806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBXN11 chr1 26609856 26628806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBXN11 chr1 26610001 26611500 Copy number Normal ReadDepth: A Parallel R Package 21305028 UBXN11 chr1 26611501 26729000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AIM1L,CD52,UBXN11,ZNF683 chr12 66125080 66126080 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 26613006 26613066 Gain and loss Pancreatic cancer SNP array 17952125 UBXN11 chr1 26615181 27561043 LOH Normal High-resolution SNP genotyping 21211785 AIM1L,ARID1A,C1orf172,CD52,DHDDS,FAM46B,GPATCH3,GPN2,HMGN2,LIN28A,MIR1976,NR0B2,NUDC,PIGV,RPS6KA1,SFN,SLC9A1,TRNP1,UBXN11,WDTC1,ZDHHC18,ZNF683 chr12 6617188 6933606 Copy number Lung cancer paired-end sequencing 18438408 ACRBP,CD4,CHD4,COPS7A,GAPDH,GPR162,IFFO1,ING4,LAG3,LPAR5,MLF2,NCAPD2,NOP2,PIANP,PTMS,SCARNA10,SCARNA11,ZNF384 chr12 6617502 6626841 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NCAPD2,SCARNA10 chr12 6617502 6626841 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NCAPD2,SCARNA10 chr12 6617503 6626841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCAPD2,SCARNA10 chr12 6617503 6626841 Gain and loss Pancreatic cancer SNP array 17952125 NCAPD2,SCARNA10 chr12 6617503 6626841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAPD2,SCARNA10 chr12 6629710 6642565 Gain and loss Pancreatic cancer SNP array 17952125 NCAPD2 chr12 6629710 6642567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCAPD2 chr12 6629710 6642567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAPD2 chr12 66297342 66298342 Gain Osteosarcoma References 21215367 HMGA2 chr12 66310567 66310679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMGA2 chr1 26631360 26670380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AIM1L,CD52,UBXN11 chr1 26631360 26670380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIM1L,CD52,UBXN11 chr12 66316446 66317446 Loss Osteosarcoma References 21215367 HMGA2 chr12 66320777 66335342 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 HMGA2 chr12 66325398 66326398 Loss Osteosarcoma References 21215367 HMGA2 chr12 66328778 66342711 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 HMGA2 chr12 66328779 66342711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HMGA2 chr12 66328779 66342711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGA2 chr12 66329021 66340410 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HMGA2 chr12 66329021 66340410 Gain and loss Pancreatic cancer SNP array 17952125 HMGA2 chr12 66335591 66335691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMGA2 chr12 66347037 66347137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMGA2 chr12 66356997 66357997 Loss Osteosarcoma References 21215367 HMGA2 chr12 66377238 67202400 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GRIP1,HELB,IRAK3,LLPH,TMBIM4 chr12 66458200 66543552 Amplification Cancer Affymetrix 250K Sty array 20164920 LLPH,TMBIM4 chr12 6645903 6668930 Gain or loss Breast cancer - 20668451 GAPDH,IFFO1,NOP2 chr12 6645903 6668930 Gain or loss Cancer - 20668451 GAPDH,IFFO1,NOP2 chr12 6645903 6668930 Gain or loss Lung cancer - 20668451 GAPDH,IFFO1,NOP2 chr12 6645903 6668930 Gain or loss Ovarian cancer - 20668451 GAPDH,IFFO1,NOP2 chr12 6645903 6668930 Gain or loss Pancreas cancer - 20668451 GAPDH,IFFO1,NOP2 chr12 6645903 6668930 Gain or loss Prostate cancer - 20668451 GAPDH,IFFO1,NOP2 chr12 6645904 6668930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAPDH,IFFO1,NOP2 chr12 6645904 6668930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAPDH,IFFO1,NOP2 chr12 6646075 6668881 Gain and loss Pancreatic cancer SNP array 17952125 GAPDH,IFFO1,NOP2 chr12 6646660 6668751 Amplification or deletion Cancer Array CGH 17440070 GAPDH,IFFO1,NOP2 chr12 6646689 6647454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAPDH chr12 6646958 6647371 Gain and loss Pancreatic cancer SNP array 17952125 GAPDH chr12 66479252 66480252 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 66511310 66515590 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 26652921 26653022 Gain and loss Pancreatic cancer SNP array 17952125 AIM1L chr12 66536499 66536599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMBIM4 chr1 26653731 26654265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIM1L chr12 66553441 66554441 Loss Osteosarcoma References 21215367 TMBIM4 chr12 66556203 66556303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMBIM4 chr12 66617356 74705086 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BEST3,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,GRIP1,HELB,IFNG,IL22,IL26,IRAK3,KCNMB4,LGR5,LOC100507250,LOC100507377,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,MRS2P2,NUP107,PTPRB,PTPRR,RAB21,RAB3IP,RAP1B,SLC35E3,SNORA70G,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,YEATS4,ZFC3H1 chr12 66649897 66650897 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 66658491 66658564 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 66695126 66696126 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 66695545 66696545 Gain Osteosarcoma References 21215367 HELB chr1 26671533 26675021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AIM1L chr1 26671533 26675021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIM1L chr12 66715817 66716902 Gain and loss Pancreatic cancer SNP array 17952125 HELB chr12 6673217 6680073 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CHD4,NOP2 chr12 6673219 6696116 Gain and loss Pancreatic cancer SNP array 17952125 CHD4,NOP2,SCARNA11 chr12 6673221 6677267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOP2 chr12 6673221 6677267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOP2 chr12 66755909 69508257 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAND1,CPM,DYRK2,GRIP1,IFNG,IL22,IL26,LOC100507250,MDM1,MDM2,NUP107,RAP1B,SLC35E3,SNORA70G chr12 66773314 66773414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIP1 chr12 66811518 66811818 Gain Osteosarcoma References 21215367 GRIP1 chr12 66815116 66816116 Gain Osteosarcoma References 21215367 GRIP1 chr12 66822896 66834781 Amplification Normal Arbitrated Peel-off 21527027 GRIP1 chr12 66822896 66834781 Amplification Normal Standard peel-off 21527027 GRIP1 chr12 66834816 66839790 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIP1 chr12 66834816 66839790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIP1 chr12 66834816 66839790 Gain and loss Pancreatic cancer SNP array 17952125 GRIP1 chr12 66834816 66839790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIP1 chr12 66836241 67166003 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-733K arrays 21546498 GRIP1 chr12 66879952 66880952 Loss Osteosarcoma References 21215367 GRIP1 chr12 66881396 66905838 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIP1 chr12 66881396 66905838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIP1 chr12 66881396 66905838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIP1 chr12 66881892 66905803 Gain and loss Pancreatic cancer SNP array 17952125 GRIP1 chr12 66906173 66906359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIP1 chr12 66906390 66906489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIP1 chr12 66908919 66909919 Gain Osteosarcoma References 21215367 GRIP1 chr12 66928292 66933551 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIP1 chr12 66928292 66933551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIP1 chr12 66928292 66933551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIP1 chr12 66928292 66933651 Gain and loss Pancreatic cancer SNP array 17952125 GRIP1 chr1 26696881 26696966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF683 chr12 66974613 67012379 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIP1 chr12 66974613 67012379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIP1 chr12 66974613 67012379 Gain and loss Pancreatic cancer SNP array 17952125 GRIP1 chr12 66974613 67012379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIP1 chr12 67005051 67012428 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 GRIP1 chr12 67013937 67014937 Loss Osteosarcoma References 21215367 GRIP1 chr12 67018446 67019446 Gain Osteosarcoma References 21215367 GRIP1 chr12 67026716 67027716 Gain Osteosarcoma References 21215367 GRIP1 chr12 670305 670422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 B4GALNT3 chr12 6703473 6711283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHD4 chr12 6703473 6711283 Gain and loss Pancreatic cancer SNP array 17952125 CHD4 chr12 6703473 6711283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD4 chr12 6703481 6711291 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CHD4 chr12 67049795 67049795 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 GRIP1 chr12 67049795 67049795 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 GRIP1 chr12 67061741 67061841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIP1 chr1 26706664 26792737 Gain and loss Pancreatic cancer SNP array 17952125 DHDDS,LIN28A chr12 67068946 67069046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIP1 chr12 67073041 67073132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 67074000 68482000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 CAND1,DYRK2 chr12 67076643 67076943 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 67076811 67077811 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 67076821 67077121 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 67078090 67078390 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67097888 67097988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 67124407 67157408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 67150585 67151585 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 6716101 6720400 Deletion Glioma mate-paired sequence 20126413 CHD4 chr12 67172558 67226091 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr12 67172558 67226091 Amplification Normal Standard peel-off 21527027 NOT_FOUND chr1 26718432 26719328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26718432 26719328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6718871 6718930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 67215504 67215804 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67220422 67220522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 67233042 67233929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67233042 67233929 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67233042 67233929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67272889 67272982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6727431 6732530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPAR5 chr12 6727431 6732530 Gain and loss Pancreatic cancer SNP array 17952125 LPAR5 chr12 6727431 6732530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPAR5 chr12 67282959 67283959 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 6728346 6728446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPAR5 chr1 26728835 26774107 Gain or loss Breast cancer - 20668451 DHDDS,LIN28A chr1 26728835 26774107 Gain or loss Cancer - 20668451 DHDDS,LIN28A chr1 26728835 26774107 Gain or loss Lung cancer - 20668451 DHDDS,LIN28A chr1 26728835 26774107 Gain or loss Ovarian cancer - 20668451 DHDDS,LIN28A chr1 26728835 26774107 Gain or loss Pancreas cancer - 20668451 DHDDS,LIN28A chr1 26728835 26774107 Gain or loss Prostate cancer - 20668451 DHDDS,LIN28A chr1 26728836 26774108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHDDS,LIN28A chr1 26728836 26774108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHDDS,LIN28A chr1 26729001 26732000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 67290918 67340641 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 67290918 67340641 Gain or loss Cancer - 20668451 NOT_FOUND chr12 67290918 67340641 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 67290918 67340641 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 67290918 67340641 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 67290918 67340641 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 67290919 67340641 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 67290955 67340554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67290967 67340569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 673001 730500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NINJ2 chr12 67307281 67307422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67307281 67307422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67315903 67981156 Amplification Glioblastoma multiforme Array CGH 19115005 CAND1 chr1 26732001 26774000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHDDS,LIN28A chr12 67322561 67323001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67322561 67323001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67327766 67328766 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67366997 67422740 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 67366998 67422732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67366998 67422739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 67366998 67422739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67366998 67422739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67377759 67377848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 67413689 67458721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 67416657 67416757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 67426202 67446120 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 67426203 67446120 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 67426203 67446120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67426203 67446120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67426252 67445303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67440273 67566002 Amplification Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr12 67457108 67509266 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr12 67457108 67509266 Amplification Normal Standard peel-off 21527027 NOT_FOUND chr12 6745802 6750379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACRBP chr12 6745802 6750379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACRBP chr12 67461117 67461170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 6746133 6749869 Gain and loss Pancreatic cancer SNP array 17952125 ACRBP chr12 67470416 67470716 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 67471539 67471839 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67472603 67472857 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 67472603 67472857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67474026 67475026 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67480000 68020000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 CAND1 chr12 67488246 67520481 Amplification Glioblastoma multiforme Illumina SNP arrays 22286061 NOT_FOUND chr12 67488246 67520481 Amplification Non-syndromic sensorineural hearing loss BLAT 16946073 NOT_FOUND chr12 67488246 67520481 Amplified Liposarcoma FISH, CGH 21253554 NOT_FOUND chr12 67488246 67520481 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 67488246 67520481 Gain or loss Cancer - 20668451 NOT_FOUND chr12 67488246 67520481 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 67488246 67520481 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 67488246 67520481 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 67488246 67520481 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 67488247 67520481 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 67488247 67520481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67488247 67520481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67488247 67520481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67489063 67525478 Amplification Melanoma Comparative genomic arrays (CGH), FISH 20877625 NOT_FOUND chr12 67489340 67490340 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67491554 69540533 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAND1,CPM,DYRK2,IFNG,IL22,IL26,LOC100507250,MDM1,MDM2,NUP107,RAP1B,SLC35E3,SNORA70G chr12 67500959 67766341 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CAND1 chr12 6751930 6757882 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ACRBP chr12 6751931 6757880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACRBP chr12 6751931 6757880 Gain and loss Pancreatic cancer SNP array 17952125 ACRBP chr12 6751931 6757880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACRBP chr1 26752331 26797173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DHDDS,LIN28A chr12 67531224 67643287 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 67531227 67612891 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 67531227 67612891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67531227 67612891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67531229 67613218 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67540001 67544500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 67542035 67542783 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 67542043 67542784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 6754237 6946504 Duplication Schizophrenia NimbleGen HD2 platform 21346763 ACRBP,CD4,COPS7A,GPR162,ING4,LAG3,LEPREL2,MLF2,PIANP,PTMS,ZNF384 chr12 6755671 29248257 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,ACRBP,ACSM4,AEBP2,AICDA,APOBEC1,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,ATN1,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf57,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CAPZA3,CASC1,CCDC91,CD163,CD163L1,CD4,CD69,CDCA3,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,COPS7A,CREBL2,CSDA,DDX12P,DDX47,DERA,DPPA3,DSTNP2,DUSP16,EMG1,EMP1,ENO2,EPS8,ERP27,ETNK1,ETV6,FAM66C,FAM86FP,FAM90A1,FGFR1OP2,FOXJ2,GABARAPL1,GDF3,GNB3,GOLT1B,GPR162,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,ING4,ITPR2,KCNJ8,KIAA0528,KIAA1467,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LAG3,LDHB,LEPREL2,LINC00477,LINC00612,LMO3,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC338817,LOC374443,LOC389634,LOC642846,LOH12CR1,LOH12CR2,LPCAT3,LRMP,LRP6,LRRC23,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR141,MIR200C,MIR3974,MIR4302,MIR613,MIR614,MIR920,MLF2,MRPS35,NANOG,NANOGNB,NECAP1,OLR1,PDE3A,PDE6H,PEX5,PHB2,PHC1,PIANP,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,POU5F1P3,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTHLH,PTMS,PTPN6,PTPRO,PYROXD1,PZP,RASSF8,RBP5,RECQL,REP15,RERG,RERGL,RIMKLB,RNU6-19,RPL13AP20,RPL13P5,SCARNA12,SKP1P2,SLC15A5,SLC2A14,SLC2A3,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SPSB2,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TM7SF3,TMEM52B,TPI1,USP5,WBP11,ZNF384,ZNF705A chr12 6756414 6801084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACRBP,ING4,ZNF384 chr12 67574938 67575938 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67591969 67592028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67591969 67592029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6763281 6763588 Gain and loss Pancreatic cancer SNP array 17952125 ING4 chr12 6763281 6763588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ING4 chr12 67656445 67656545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 67660836 67661836 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 67671294 67672294 Gain Osteosarcoma References 21215367 CAND1 chr12 67683818 67717228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAND1 chr12 6768912 6800237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ING4,ZNF384 chr12 6768912 6800237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ING4,ZNF384 chr12 6769005 6800227 Gain and loss Pancreatic cancer SNP array 17952125 ING4,ZNF384 chr12 67694878 67695878 Loss Osteosarcoma References 21215367 CAND1 chr12 67700000 68661632 Amplification Bone cancer 32k BAC microarrays 16732325 CAND1,DYRK2,IFNG,IL22,IL26 chr12 67700000 71500000 Amplification Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 BEST3,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,IFNG,IL22,IL26,KCNMB4,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,NUP107,PTPRB,PTPRR,RAB3IP,RAP1B,SLC35E3,SNORA70G,YEATS4 chr12 67700000 71500000 Amplification head and neck squamous cell carcinoma CGH 17671120 BEST3,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,IFNG,IL22,IL26,KCNMB4,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,NUP107,PTPRB,PTPRR,RAB3IP,RAP1B,SLC35E3,SNORA70G,YEATS4 chr12 67700000 71500000 Copy number Glioblastoma Array CGH 17090523 BEST3,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,IFNG,IL22,IL26,KCNMB4,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,NUP107,PTPRB,PTPRR,RAB3IP,RAP1B,SLC35E3,SNORA70G,YEATS4 chr12 67700000 71500000 Copy number Lung cancer correlation matrix diagonal segmentation method 20031968 BEST3,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,IFNG,IL22,IL26,KCNMB4,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,NUP107,PTPRB,PTPRR,RAB3IP,RAP1B,SLC35E3,SNORA70G,YEATS4 chr12 67700000 71500000 Gain Basal cell lymphoma CGH 17170743 BEST3,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,IFNG,IL22,IL26,KCNMB4,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,NUP107,PTPRB,PTPRR,RAB3IP,RAP1B,SLC35E3,SNORA70G,YEATS4 chr12 67700000 71500000 Gain Follicular lymphoma CGH 17170743 BEST3,CAND1,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,IFNG,IL22,IL26,KCNMB4,LOC100507250,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,NUP107,PTPRB,PTPRR,RAB3IP,RAP1B,SLC35E3,SNORA70G,YEATS4 chr12 67700000 75700000 Gain Breast cancer Microarray-based CGH 17133270 ATXN7L3B,BEST3,CAND1,CAPS2,CCT2,CNOT2,CPM,CPSF6,DYRK2,FRS2,IFNG,IL22,IL26,KCNC2,KCNMB4,LGR5,LOC100507250,LOC100507377,LRRC10,LYZ,MDM1,MDM2,MIR1279,MIR3913-1,MIR3913-2,MRS2P2,NUP107,PTPRB,PTPRR,RAB21,RAB3IP,RAP1B,SLC35E3,SNORA70G,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,YEATS4,ZFC3H1 chr12 67706006 67738565 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAND1 chr1 26774440 29015758 LOH Normal High-resolution SNP genotyping 21211785 AHDC1,ARID1A,ATPIF1,C1orf172,CD164L2,DHDDS,DNAJC8,EYA3,FAM46B,FAM76A,FCN3,FGR,GMEB1,GPATCH3,GPN2,GPR3,HMGN2,IFI6,LOC644961,MAP3K6,MED18,MIR1976,NR0B2,NUDC,PHACTR4,PIGV,PPP1R8,PTAFR,RAB42,RCC1,RNU11,RPA2,RPS6KA1,SCARNA1,SESN2,SFN,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,STX12,SYTL1,TAF12,THEMIS2,TMEM222,TRNAU1AP,TRNP1,WASF2,WDTC1,XKR8,ZDHHC18 chr12 6777645 6777900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF384 chr12 67776913 67778226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 6779326 7979220 LOH Normal High-resolution SNP genotyping 21211785 ACSM4,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,CD163,CD163L1,CD4,CDCA3,CLEC4C,CLSTN3,COPS7A,DPPA3,DSTNP2,EMG1,ENO2,GDF3,GNB3,GPR162,LAG3,LEPREL2,LPCAT3,LRRC23,MIR141,MIR200C,MLF2,NANOG,NANOGNB,PEX5,PHB2,PIANP,PTMS,PTPN6,RBP5,RPL13P5,SCARNA12,SLC2A14,SPSB2,TPI1,USP5,ZNF384 chr12 67797477 67798477 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67814045 67828764 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 26782302 29051696 LOH Normal High-resolution SNP genotyping 21211785 AHDC1,ARID1A,ATPIF1,C1orf172,CD164L2,DHDDS,DNAJC8,EYA3,FAM46B,FAM76A,FCN3,FGR,GMEB1,GPATCH3,GPN2,GPR3,HMGN2,IFI6,LOC644961,MAP3K6,MED18,MIR1976,NR0B2,NUDC,PHACTR4,PIGV,PPP1R8,PTAFR,RAB42,RCC1,RNU11,RPA2,RPS6KA1,SCARNA1,SESN2,SFN,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,STX12,SYTL1,TAF12,THEMIS2,TMEM222,TRNAU1AP,TRNP1,WASF2,WDTC1,XKR8,ZDHHC18 chr12 67823086 68043947 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DYRK2 chr12 67823086 68043947 Copy number gain Normal High-resolution SNP genotyping 21211785 DYRK2 chr12 67844024 67845958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 67857536 67858536 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 67872253 69805406 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 CPM,CPSF6,DYRK2,IFNG,IL22,IL26,LOC100507250,LYZ,MDM1,MDM2,MIR1279,NUP107,RAP1B,SLC35E3,SNORA70G,YEATS4 chr12 67880176 67880246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67919583 67954405 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 67919647 67949986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 67919663 67951290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 67919667 67951290 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 26792323 26792624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHDDS chr1 26792324 26792624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHDDS chr12 67983000 69669000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 CPM,CPSF6,DYRK2,IFNG,IL22,IL26,LOC100507250,MDM1,MDM2,MIR1279,NUP107,RAP1B,SLC35E3,SNORA70G chr1 26798628 26809026 Gain and loss Pancreatic cancer SNP array 17952125 HMGN2 chr12 6801224 6806844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIANP chr12 6801224 6806844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIANP chr12 6801224 6819271 Gain and loss Pancreatic cancer SNP array 17952125 PIANP chr12 68028400 68034280 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 68028401 68034280 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 68028401 68034280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68028401 68034280 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68028401 68034280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68039798 68070843 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DYRK2 chr12 68039799 68070842 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DYRK2 chr12 68039799 68070842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYRK2 chr12 68039799 68070842 Gain and loss Pancreatic cancer SNP array 17952125 DYRK2 chr12 68039799 68070842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYRK2 chr1 26807000 36407000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADC,AHDC1,AK2,ARID1A,ATPIF1,BAI2,BSDC1,C1orf172,C1orf212,C1orf216,C1orf94,CCDC28B,CD164L2,CLSPN,COL16A1,CSMD2,DCDC2B,DLGAP3,DNAJC8,EIF2C1,EIF2C3,EIF2C4,EIF3I,EPB41,EYA3,FABP3,FAM167B,FAM46B,FAM76A,FCN3,FGR,FNDC5,GJA4,GJB3,GJB4,GJB5,GMEB1,GPATCH3,GPN2,GPR3,HCRTR1,HDAC1,HMGB4,HPCA,IFI6,IQCC,KHDRBS1,KIAA0319L,KIAA1522,KPNA6,LAPTM5,LCK,LOC100128071,LOC149086,LOC284551,LOC402779,LOC644961,LOC653160,MAP3K6,MARCKSL1,MATN1,MATN1-AS1,MECR,MED18,MIR1976,MIR3605,MIR4254,MIR4420,MTMR9LP,NCDN,NKAIN1,NR0B2,NUDC,OPRD1,PEF1,PHACTR4,PHC2,PIGV,PPP1R8,PSMB2,PTAFR,PTP4A2,PTPRU,PUM1,RAB42,RBBP4,RCC1,RNF19B,RNU11,RPA2,RPS6KA1,S100PBP,SCARNA1,SDC3,SERINC2,SESN2,SFN,SFPQ,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPOCD1,SRSF4,STX12,SYNC,SYTL1,TAF12,TFAP2E,THEMIS2,TINAGL1,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM54,TRIM62,TRNAU1AP,TRNP1,TSSK3,TXLNA,WASF2,WDTC1,XKR8,YARS,YTHDF2,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZDHHC18,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZSCAN20 chr1 26807319 27207319 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ARID1A,GPN2,MIR1976,PIGV,RPS6KA1,SFN,ZDHHC18 chr12 6807833 6819279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIANP chr12 6807833 6819279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIANP chr12 68080950 68081245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68080950 68081247 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68080951 68081247 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68088382 68089382 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 68150395 68259829 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 68150395 68259829 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 68150395 68259829 Gain or loss Cancer - 20668451 NOT_FOUND chr12 68150395 68259829 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 68150395 68259829 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 68150395 68259829 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 68150395 68259829 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 68150396 68259826 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 68150396 68259826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68150396 68259826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68150438 68220821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68150438 68220821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68150453 68255011 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68157443 68157543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68190511 68191511 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 6819635 6826818 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 6819636 6826818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6819636 6826818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6819636 6826818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68197061 68197161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68210921 68220821 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 68211530 68212530 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 68211796 68223114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 68215522 68215592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68244402 68245402 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 68246320 68247320 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 68247450 68248450 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 68249634 68327233 Amplification Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr1 26825458 26825740 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68262468 68328705 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr12 68262468 68328705 Amplification Normal Standard peel-off 21527027 NOT_FOUND chr12 68265474 68281624 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 68265475 68281624 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 68265475 68281624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68265475 68281624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68265512 68281617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68276025 68276125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6828232 6830717 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 6828254 6830686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6828262 6830686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6828262 6830686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68284949 68285049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68288364 68291801 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr12 68290052 68290804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68290052 68290885 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 68290052 68290885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68303999 68304999 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 6831545 6846056 Gain or loss Breast cancer - 20668451 COPS7A chr12 6831545 6846056 Gain or loss Cancer - 20668451 COPS7A chr12 6831545 6846056 Gain or loss Lung cancer - 20668451 COPS7A chr12 6831545 6846056 Gain or loss Ovarian cancer - 20668451 COPS7A chr12 6831545 6846056 Gain or loss Pancreas cancer - 20668451 COPS7A chr12 6831545 6846056 Gain or loss Prostate cancer - 20668451 COPS7A chr12 6831575 6846054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COPS7A chr12 6831575 6846054 Gain and loss Pancreatic cancer SNP array 17952125 COPS7A chr12 6831575 6846054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPS7A chr12 68321508 69215659 LOH Normal High-resolution SNP genotyping 21211785 IFNG,IL22,IL26,LOC100507250,MDM1,MDM2,NUP107,RAP1B,SLC35E3,SNORA70G chr12 68323407 68379463 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 68323407 68379463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68323407 68379463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68323601 68379463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6832868 6832968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68333655 68379463 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 68334691 69251593 LOH Normal High-resolution SNP genotyping 21211785 CPM,IFNG,IL22,IL26,LOC100507250,MDM1,MDM2,NUP107,RAP1B,SLC35E3,SNORA70G chr1 26839455 26839622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26841366 26841467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68418898 68503251 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 68418898 68503251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68418898 68503251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 68418909 68497423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68452388 68452488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68459020 68503251 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 68459165 68459265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6846544 6850373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6846544 6850373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26846594 26846760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6846954 6850253 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6850363 6852713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6850365 6852713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6850365 6852713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6851017 6852762 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 6853001 6915000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD4,LAG3,MLF2,PTMS chr12 68575482 68590944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68575998 68577013 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 68600487 68638770 Gain and loss Pancreatic cancer SNP array 17952125 IL26 chr1 26860573 29239576 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AHDC1,ARID1A,ATPIF1,C1orf172,CD164L2,DNAJC8,EPB41,EYA3,FAM46B,FAM76A,FCN3,FGR,GMEB1,GPATCH3,GPN2,GPR3,IFI6,LOC644961,MAP3K6,MED18,MIR1976,NR0B2,NUDC,OPRD1,PHACTR4,PIGV,PPP1R8,PTAFR,RAB42,RCC1,RNU11,RPA2,RPS6KA1,SCARNA1,SESN2,SFN,SLC9A1,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,STX12,SYTL1,TAF12,THEMIS2,TMEM222,TRNAU1AP,TRNP1,WASF2,WDTC1,XKR8,YTHDF2,ZDHHC18 chr12 68616003 68638770 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IL26 chr12 68616003 68638770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL26 chr12 68616003 68638770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL26 chr12 68624957 68625057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68625609 68625753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 6863421 6863922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6863421 6863922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 6863424 6863990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 68663070 68663170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68663649 68663732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26867726 26888456 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1976,RPS6KA1 chr1 26868841 26868941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPS6KA1 chr12 68716037 68749258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MDM1 chr12 6872481 6884159 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LAG3,PTMS chr1 26873771 26875090 Gain and loss Pancreatic cancer SNP array 17952125 RPS6KA1 chr12 68741865 68741944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 68775855 68776855 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 6883716 7425292 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,CD4,CDCA3,CLSTN3,DSTNP2,EMG1,ENO2,GNB3,GPR162,LAG3,LEPREL2,LPCAT3,LRRC23,MIR141,MIR200C,PEX5,PHB2,PTPN6,RBP5,RPL13P5,SCARNA12,SPSB2,TPI1,USP5 chr12 6884213 6893666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAG3 chr12 6884213 6893666 Gain and loss Pancreatic cancer SNP array 17952125 LAG3 chr12 6884213 6893666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAG3 chr12 6885393 6889400 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LAG3 chr12 6885393 6889400 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 LAG3 chr12 68879101 68885800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 68881113 68883863 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 68881114 68883844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 68894143 68916565 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 26890015 26900930 Gain and loss Pancreatic cancer SNP array 17952125 RPS6KA1 chr12 68923043 69035040 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RAP1B,SNORA70G chr12 68923044 69035040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAP1B,SNORA70G chr12 68923044 69035040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAP1B,SNORA70G chr12 68923044 69035040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAP1B,SNORA70G chr12 68923489 69033962 Gain and loss Pancreatic cancer SNP array 17952125 RAP1B,SNORA70G chr12 6893874 6903120 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 CD4 chr12 6893875 6903120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD4 chr12 6893875 6903120 Gain and loss Pancreatic cancer SNP array 17952125 CD4 chr12 6893875 6903120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD4 chr12 68947995 68960987 Amplification Normal Arbitrated Peel-off 21527027 NOT_FOUND chr12 68947995 68960987 Amplification Normal Standard peel-off 21527027 NOT_FOUND chr1 2689501 2697000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC34 chr1 26895109 26981188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA1 chr1 26895109 26981188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA1 chr1 26898389 27051816 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARID1A,RPS6KA1 chr1 2690014 2694127 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TTC34 chr1 2690014 2696096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC34 chr12 69001745 69002101 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 69001745 69002101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 69005714 69040338 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RAP1B,SNORA70G chr1 26901122 26911099 Gain and loss Pancreatic cancer SNP array 17952125 RPS6KA1 chr12 6903886 6924076 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CD4 chr12 6903887 6921743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD4 chr12 6903887 6921743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD4 chr12 6903887 6921744 Gain and loss Pancreatic cancer SNP array 17952125 CD4 chr12 69046329 69111245 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100507250,NUP107,RAP1B chr12 69046329 69111245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507250,NUP107,RAP1B chr12 69046329 69111245 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507250,NUP107,RAP1B chr12 69046329 69111245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507250,NUP107,RAP1B chr12 69069001 69246100 Copy number Normal ReadDepth: A Parallel R Package 21305028 CPM,LOC100507250,MDM2,NUP107,SLC35E3 chr12 69112295 69145176 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUP107,SLC35E3 chr12 6911553 6940740 Gain and loss Pancreatic cancer SNP array 17952125 CD4,GPR162,LEPREL2 chr12 69123831 69123970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP107 chr12 69123832 69123943 Gain and loss Pancreatic cancer SNP array 17952125 NUP107 chr12 69123832 69123973 Gain and loss Pancreatic cancer SNP array 17952125 NUP107 chr12 69127668 69128933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP107 chr12 69139020 69188080 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SLC35E3 chr12 69155719 69158125 Loss Normal Birdsuite, version 1.5.2 22087296 SLC35E3 chr12 69157378 69165752 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 SLC35E3 chr12 69157378 69165752 Total allelic loss Normal High-resolution SNP genotyping 21211785 SLC35E3 chr12 69158125 69158942 Loss Normal Birdsuite, version 1.5.2 22087296 SLC35E3 chr12 69158534 69164483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC35E3 chr12 69158942 69164294 Loss Normal Birdsuite, version 1.5.2 22087296 SLC35E3 chr12 69159559 69165752 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 SLC35E3 chr12 69159559 69165752 Total allelic loss Normal High-resolution SNP genotyping 21211785 SLC35E3 chr1 2691602 2691676 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 TTC34 chr12 69161518 69399479 Gain Normal 244K array 17666407 CPM,MDM2 chr12 69164294 69167195 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 69172051 73378387 Loss Autism FISH 20685689 BEST3,CCT2,CNOT2,CPM,CPSF6,FRS2,KCNMB4,LGR5,LRRC10,LYZ,MDM2,MIR1279,MIR3913-1,MIR3913-2,MRS2P2,PTPRB,PTPRR,RAB21,RAB3IP,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,YEATS4,ZFC3H1 chr12 69196897 69317477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPM,MDM2 chr12 69196897 69317477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPM,MDM2 chr12 69196898 69317486 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CPM,MDM2 chr12 69201231 69317461 Gain and loss Pancreatic cancer SNP array 17952125 CPM,MDM2 chr12 69220231 69221231 Loss Osteosarcoma References 21215367 MDM2 chr1 26922121 26924602 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 6923239 6923302 Gain and loss Pancreatic cancer SNP array 17952125 CD4 chr12 6923241 6923302 Gain and loss Pancreatic cancer SNP array 17952125 CD4 chr12 69233315 69233372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDM2 chr12 6923464 6925425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD4 chr12 6923464 6925425 Gain and loss Pancreatic cancer SNP array 17952125 CD4 chr12 6923464 6925425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD4 chr12 6926000 6940740 Gain or loss Breast cancer - 20668451 CD4,GPR162,LEPREL2 chr12 6926000 6940740 Gain or loss Cancer - 20668451 CD4,GPR162,LEPREL2 chr12 6926000 6940740 Gain or loss Lung cancer - 20668451 CD4,GPR162,LEPREL2 chr12 6926000 6940740 Gain or loss Ovarian cancer - 20668451 CD4,GPR162,LEPREL2 chr12 6926000 6940740 Gain or loss Pancreas cancer - 20668451 CD4,GPR162,LEPREL2 chr12 6926000 6940740 Gain or loss Prostate cancer - 20668451 CD4,GPR162,LEPREL2 chr12 6926001 6940740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD4,GPR162,LEPREL2 chr12 6926001 6940740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD4,GPR162,LEPREL2 chr12 69270211 69270311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPM chr12 69288701 69289214 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CPM chr12 69302379 70032000 LOH Normal High-resolution SNP genotyping 21211785 CCT2,CPM,CPSF6,FRS2,LRRC10,LYZ,MIR1279,MIR3913-1,MIR3913-2,YEATS4 chr12 69318129 69600853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPM chr12 69318129 69600853 Gain and loss Pancreatic cancer SNP array 17952125 CPM chr12 69318129 69600853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPM chr1 26932366 26957030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 69326660 69340416 Amplification Normal Arbitrated Peel-off 21527027 CPM chr12 69326660 69340416 Amplification Normal Standard peel-off 21527027 CPM chr12 69351965 69352908 Gain and loss Pancreatic cancer SNP array 17952125 CPM chr12 69351965 69352908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPM chr12 69403640 69403940 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 6943123 6943190 Deletion Acute myeloid leukemia BAC aCGH 20962326 LEPREL2 chr12 6943123 6943190 Gain and loss Pancreatic cancer SNP array 17952125 LEPREL2 chr12 6943123 6943190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEPREL2 chr12 6943521 6943615 Gain and loss Pancreatic cancer SNP array 17952125 LEPREL2 chr12 6943521 6943615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEPREL2 chr1 2694355 3167922 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 ACTRT2,FLJ42875,MIR4251,PRDM16,TTC34 chr12 69443870 69444870 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 6945109 6950152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNB3,LEPREL2 chr12 6946761 6947030 Gain and loss Pancreatic cancer SNP array 17952125 LEPREL2 chr12 6947746 7838706 Copy number Lung cancer paired-end sequencing 18438408 ACSM4,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,CD163,CD163L1,CDCA3,CLSTN3,DSTNP2,EMG1,ENO2,GNB3,LEPREL2,LPCAT3,LRRC23,MIR141,MIR200C,PEX5,PHB2,PTPN6,RBP5,RPL13P5,SCARNA12,SPSB2,TPI1,USP5 chr1 26948697 28023399 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 AHDC1,ARID1A,C1orf172,CD164L2,FAM46B,FCN3,FGR,GPATCH3,GPN2,GPR3,IFI6,LOC644961,MAP3K6,NR0B2,NUDC,PIGV,SFN,SLC9A1,SYTL1,TMEM222,TRNP1,WASF2,WDTC1,ZDHHC18 chr12 6950254 6955397 Gain and loss Pancreatic cancer SNP array 17952125 GNB3 chr12 6950254 6955404 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 GNB3 chr12 6950348 6955232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNB3 chr12 6950348 6955232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNB3 chr12 6951001 8265500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSM4,APOBEC1,ATN1,C12orf57,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CD163,CD163L1,CDCA3,CLEC4C,CLSTN3,DPPA3,DSTNP2,EMG1,ENO2,FOXJ2,GDF3,GNB3,LPCAT3,LRRC23,MIR141,MIR200C,NANOG,NANOGNB,NECAP1,PEX5,PHB2,PTPN6,RBP5,RPL13P5,SCARNA12,SLC2A14,SLC2A3,SPSB2,TPI1,USP5 chr12 69528086 69529086 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 69537397 69952819 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPSF6,FRS2,LYZ,MIR1279,YEATS4 chr12 69537397 70376345 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BEST3,CCT2,CPSF6,FRS2,LRRC10,LYZ,MIR1279,MIR3913-1,MIR3913-2,RAB3IP,YEATS4 chr12 6955608 6996103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDCA3,DSTNP2,GNB3,RPL13P5,SPSB2,TPI1,USP5 chr12 6955608 6996103 Gain and loss Pancreatic cancer SNP array 17952125 CDCA3,DSTNP2,GNB3,RPL13P5,SPSB2,TPI1,USP5 chr12 6955608 6996103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDCA3,DSTNP2,GNB3,RPL13P5,SPSB2,TPI1,USP5 chr12 69556712 69659898 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CPSF6 chr12 69586964 69587063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 69586964 69587065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26960203 26971039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 69614902 69629192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 69615623 69637680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPSF6 chr12 69615833 69628751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 69617084 69640122 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPSF6 chr12 69640000 70400000 Gain Breast cancer aCGH 21509527 BEST3,CCT2,CPSF6,FRS2,LRRC10,LYZ,MIR1279,MIR3913-1,MIR3913-2,RAB3IP,YEATS4 chr12 6966612 7048597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATN1,DSTNP2,ENO2,LRRC23,RPL13P5,SPSB2,TPI1,USP5 chr12 6966612 7048597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATN1,DSTNP2,ENO2,LRRC23,RPL13P5,SPSB2,TPI1,USP5 chr1 2697001 2705000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC34 chr12 69785308 69785641 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 69785641 69786433 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 69786433 69796522 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 69794631 69794731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 26979575 26979875 Gain Chordoma References 21215367 NOT_FOUND chr1 26979725 26980725 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr12 69797610 69797710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 69800000 100000000 Loss Glioblastoma multiforme aCGH 21080181 ACSS3,ALX1,AMDHD1,ANKS1B,APAF1,ATP2B1,ATXN7L3B,BBS10,BEST3,BTG1,C12orf29,C12orf50,C12orf74,CAPS2,CCDC38,CCDC41,CCDC59,CCER1,CCT2,CDK17,CEP290,CLLU1,CLLU1OS,CNOT2,CRADD,CSRP2,DCN,DUSP6,E2F7,EEA1,ELK3,EPYC,FGD6,FRS2,GALNT4,GLIPR1,GLIPR1L1,GLIPR1L2,HAL,IKBIP,KCNC2,KCNMB4,KERA,KITLG,KRR1,KRT19P2,LGR5,LIN7A,LINC00615,LOC100507377,LOC144486,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LRRC10,LRRIQ1,LTA4H,LUM,METAP2,METTL25,MGAT4C,MIR1251,MIR1252,MIR135A2,MIR331,MIR3685,MIR3913-1,MIR3913-2,MIR4303,MIR4699,MIR492,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MKRN9P,MRPL42,MRS2P2,MYF5,MYF6,NAP1L1,NAV3,NDUFA12,NEDD1,NR2C1,NTN4,NTS,NUDT4,NUDT4P1,OSBPL8,OTOGL,PAWR,PHLDA1,PLEKHG7,PLXNC1,POC1B,POC1B-GALNT4,PPFIA2,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RASSF9,RMST,SLC25A3,SLC6A15,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SYT1,TBC1D15,THAP2,TMCC3,TMEM19,TMPO,TMPO-AS1,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,UBE2N,USP44,VEZT,ZDHHC17,ZFC3H1 chr12 69800000 107500000 Loss Breast cancer array-CGH 22032731 ACSS3,ACTR6,ALDH1L2,ALX1,AMDHD1,ANKS1B,ANO4,APAF1,APPL2,ARL1,ASCL1,ATP2B1,ATXN7L3B,BBS10,BEST3,BTG1,C12orf23,C12orf29,C12orf42,C12orf45,C12orf50,C12orf73,C12orf74,C12orf75,CAPS2,CCDC38,CCDC41,CCDC53,CCDC59,CCER1,CCT2,CDK17,CEP290,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CNOT2,CRADD,CRY1,CSRP2,DCN,DEPDC4,DRAM1,DUSP6,E2F7,EEA1,EID3,ELK3,EPYC,FAM71C,FGD6,FRS2,GALNT4,GAS2L3,GLIPR1,GLIPR1L1,GLIPR1L2,GLT8D2,GNN,GNPTAB,GOLGA2P5,HAL,HCFC2,HSP90B1,IGF1,IKBIP,KCNC2,KCNMB4,KERA,KIAA1033,KITLG,KRR1,KRT19P2,LGR5,LIN7A,LINC00485,LINC00615,LOC100287944,LOC100505978,LOC100507377,LOC144486,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LRRC10,LRRIQ1,LTA4H,LUM,METAP2,METTL25,MGAT4C,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4699,MIR492,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MKRN9P,MRPL42,MRS2P2,MTERFD3,MYBPC1,MYF5,MYF6,NAP1L1,NAV3,NDUFA12,NEDD1,NFYB,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OSBPL8,OTOGL,PAH,PARPBP,PAWR,PHLDA1,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,PPFIA2,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RASSF9,RFX4,RIC8B,RMST,SCYL2,SLC17A8,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,STAB2,SYCP3,SYT1,TBC1D15,TCP11L2,TDG,THAP2,TMCC3,TMEM19,TMPO,TMPO-AS1,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,TXNRD1,UBE2N,UHRF1BP1L,USP44,UTP20,VEZT,ZDHHC17,ZFC3H1 chr12 69800000 107500000 Loss Glioblastoma multiforme conventional CGH 21080181 ACSS3,ACTR6,ALDH1L2,ALX1,AMDHD1,ANKS1B,ANO4,APAF1,APPL2,ARL1,ASCL1,ATP2B1,ATXN7L3B,BBS10,BEST3,BTG1,C12orf23,C12orf29,C12orf42,C12orf45,C12orf50,C12orf73,C12orf74,C12orf75,CAPS2,CCDC38,CCDC41,CCDC53,CCDC59,CCER1,CCT2,CDK17,CEP290,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CNOT2,CRADD,CRY1,CSRP2,DCN,DEPDC4,DRAM1,DUSP6,E2F7,EEA1,EID3,ELK3,EPYC,FAM71C,FGD6,FRS2,GALNT4,GAS2L3,GLIPR1,GLIPR1L1,GLIPR1L2,GLT8D2,GNN,GNPTAB,GOLGA2P5,HAL,HCFC2,HSP90B1,IGF1,IKBIP,KCNC2,KCNMB4,KERA,KIAA1033,KITLG,KRR1,KRT19P2,LGR5,LIN7A,LINC00485,LINC00615,LOC100287944,LOC100505978,LOC100507377,LOC144486,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LRRC10,LRRIQ1,LTA4H,LUM,METAP2,METTL25,MGAT4C,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4699,MIR492,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MKRN9P,MRPL42,MRS2P2,MTERFD3,MYBPC1,MYF5,MYF6,NAP1L1,NAV3,NDUFA12,NEDD1,NFYB,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OSBPL8,OTOGL,PAH,PARPBP,PAWR,PHLDA1,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,PPFIA2,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RASSF9,RFX4,RIC8B,RMST,SCYL2,SLC17A8,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,STAB2,SYCP3,SYT1,TBC1D15,TCP11L2,TDG,THAP2,TMCC3,TMEM19,TMPO,TMPO-AS1,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,TXNRD1,UBE2N,UHRF1BP1L,USP44,UTP20,VEZT,ZDHHC17,ZFC3H1 chr12 69800000 132349534 Copy number Cancer ICA method 16751803 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69800000 74100000 Amplification Urothelial cell carcinoma FISH 18451213 BEST3,CCT2,CNOT2,FRS2,KCNMB4,LGR5,LRRC10,MIR3913-1,MIR3913-2,MRS2P2,PTPRB,PTPRR,RAB21,RAB3IP,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,ZFC3H1 chr12 69800000 74100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BEST3,CCT2,CNOT2,FRS2,KCNMB4,LGR5,LRRC10,MIR3913-1,MIR3913-2,MRS2P2,PTPRB,PTPRR,RAB21,RAB3IP,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,ZFC3H1 chr12 69800000 74100000 Copy number Normal - 21701786 BEST3,CCT2,CNOT2,FRS2,KCNMB4,LGR5,LRRC10,MIR3913-1,MIR3913-2,MRS2P2,PTPRB,PTPRR,RAB21,RAB3IP,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,ZFC3H1 chr12 69800000 74100000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 BEST3,CCT2,CNOT2,FRS2,KCNMB4,LGR5,LRRC10,MIR3913-1,MIR3913-2,MRS2P2,PTPRB,PTPRR,RAB21,RAB3IP,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,ZFC3H1 chr12 69800000 74100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BEST3,CCT2,CNOT2,FRS2,KCNMB4,LGR5,LRRC10,MIR3913-1,MIR3913-2,MRS2P2,PTPRB,PTPRR,RAB21,RAB3IP,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,ZFC3H1 chr12 69800000 91200000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ACSS3,ALX1,ATP2B1,ATXN7L3B,BBS10,BEST3,C12orf29,C12orf50,CAPS2,CCDC59,CCT2,CEP290,CNOT2,CSRP2,DUSP6,E2F7,FRS2,GALNT4,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KCNMB4,KITLG,KRR1,LGR5,LIN7A,LOC100507377,LOC338758,LOC728084,LRRC10,LRRIQ1,METTL25,MGAT4C,MIR1252,MIR3913-1,MIR3913-2,MIR4699,MIR548AL,MIR5692B,MIR617,MIR618,MKRN9P,MRS2P2,MYF5,MYF6,NAP1L1,NAV3,NTS,OSBPL8,OTOGL,PAWR,PHLDA1,POC1B,POC1B-GALNT4,PPFIA2,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,RASSF9,SLC6A15,SYT1,TBC1D15,THAP2,TMEM19,TMTC2,TMTC3,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,ZDHHC17,ZFC3H1 chr12 69805136 70121945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEST3,CCT2,FRS2,LRRC10,MIR3913-1,MIR3913-2 chr12 69805136 70121945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEST3,CCT2,FRS2,LRRC10,MIR3913-1,MIR3913-2 chr12 69805144 69838046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 69818942 132349534 Copy number Biliary cancer Agilent CGH platform 20360734 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69818942 132349534 Copy number Breast cancer Agilent CGH platform 20360734 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69818942 132349534 Copy number Coronary artery disease Agilent CGH platform 20360734 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69818942 132349534 Copy number Crohn's disease Agilent CGH platform 20360734 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69818942 132349534 Copy number Hypertension Agilent CGH platform 20360734 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69818942 132349534 Copy number Rheumatoid arthritis Agilent CGH platform 20360734 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69818942 132349534 Copy number Type 1 diabetes Agilent CGH platform 20360734 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69818942 132349534 Copy number Type 2 diabetes Agilent CGH platform 20360734 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BEST3,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CCT2,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,CNOT2,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FRS2,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCNMB4,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC10,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3913-1,MIR3913-2,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAB3IP,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 69818942 69819932 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 69835785 69835885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 69870130 69871130 Gain Osteosarcoma References 21215367 FRS2 chr1 26987073 26997471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 26987073 26997471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 69881026 69882026 Gain Osteosarcoma References 21215367 FRS2 chr12 69888625 69890740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FRS2 chr12 69888644 69890748 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FRS2 chr1 26990720 26991608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 69928289 69928374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRS2 chr12 69951395 69952395 Gain Osteosarcoma References 21215367 FRS2 chr12 69957882 69957982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRS2 chr12 69990363 69991363 Loss Osteosarcoma References 21215367 CCT2 chr12 69998647 69998761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 26999996 27023596 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ARID1A chr12 70000000 82000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ACSS3,ATXN7L3B,BBS10,BEST3,CAPS2,CNOT2,CSRP2,E2F7,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KCNMB4,KRR1,LGR5,LIN7A,LOC100507377,LRRC10,MIR1252,MIR4699,MIR5692B,MIR617,MIR618,MRS2P2,MYF5,MYF6,NAP1L1,NAV3,OSBPL8,OTOGL,PAWR,PHLDA1,PPFIA2,PPP1R12A,PTPRB,PTPRQ,PTPRR,RAB21,RAB3IP,SYT1,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,ZDHHC17,ZFC3H1 chr1 2700000 6250000 Loss Breast cancer aCGH 21509527 ACTRT2,AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,CHD5,DFFB,FLJ42875,KCNAB2,LOC100133612,LOC284661,LOC728716,LRRC47,MEGF6,MIR4251,MIR4417,MIR4689,MIR551A,NPHP4,PRDM16,RPL22,SMIM1,TP73,TP73-AS1,TPRG1L,TTC34,WRAP73 chr12 70045481 70045569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 70082471 70119264 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BEST3 chr12 70120079 70266353 Copy number Lung cancer - 20668451 RAB3IP chr12 70120079 70266353 Gain or loss Breast cancer - 20668451 RAB3IP chr12 70120079 70266353 Gain or loss Cancer - 20668451 RAB3IP chr12 70120079 70266353 Gain or loss Lung cancer - 20668451 RAB3IP chr12 70120079 70266353 Gain or loss Ovarian cancer - 20668451 RAB3IP chr12 70120079 70266353 Gain or loss Pancreas cancer - 20668451 RAB3IP chr12 70120079 70266353 Gain or loss Prostate cancer - 20668451 RAB3IP chr12 70120080 70264889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB3IP chr12 70120080 70264889 Gain and loss Pancreatic cancer SNP array 17952125 RAB3IP chr12 70120080 70264889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB3IP chr12 70122625 70122825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 70132255 70132555 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 27013900 27014188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27013903 27014185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27015655 27023604 Gain and loss Pancreatic cancer SNP array 17952125 ARID1A chr1 27016501 27192000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARID1A,PIGV,SFN,ZDHHC18 chr12 70172832 70175920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAB3IP chr12 70179120 70698761 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNOT2,RAB3IP chr12 70220390 70221390 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 27023546 27023605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID1A chr12 70247553 70247853 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 70247750 70248750 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 70256621 70257621 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 27025788 27054794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID1A chr1 27025788 27054794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID1A chr12 7026319 7026419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENO2 chr12 70289651 70344016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70289651 70344016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70289745 70343905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 70299595 70300595 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 70319402 70319530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70319412 70319530 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 70344051 70360684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70344051 70360684 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 70344051 70360684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70366145 70382566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 70366145 70384107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70366145 70384107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7038278 7048594 Gain and loss Pancreatic cancer SNP array 17952125 ATN1 chr12 70388731 70594440 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 70434925 70467417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70434925 70467417 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 70434925 70467417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70475410 70476883 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr12 70475410 70476883 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 70475426 70476840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 70488841 70488941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 70497500 70498500 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 2705001 2742000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC34 chr12 70519806 70604364 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 70519808 70604364 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70519808 70604364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 70529836 70530688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 70565386 70565476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7058091 7135416 Gain and loss Pancreatic cancer SNP array 17952125 EMG1,LPCAT3,MIR141,MIR200C,PHB2,PTPN6,SCARNA12 chr12 7058091 7136272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMG1,LPCAT3,MIR141,MIR200C,PHB2,PTPN6,SCARNA12 chr12 7058091 7136272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMG1,LPCAT3,MIR141,MIR200C,PHB2,PTPN6,SCARNA12 chr1 27059187 27059275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID1A chr12 70612301 70840000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNOT2,KCNMB4 chr12 70618893 70712488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNOT2 chr12 70618893 70712488 Gain and loss Pancreatic cancer SNP array 17952125 CNOT2 chr12 70618893 70712488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNOT2 chr1 27062240 27063534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID1A chr1 27062240 27063534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID1A chr12 70642844 70644407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNOT2 chr12 70642848 70644411 Deletion Non-syndromic sensorineural hearing loss Targeted BAC,Agilent24M 19587683 CNOT2 chr12 70642964 70644619 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CNOT2 chr12 70643163 70644244 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CNOT2 chr12 70650062 70650162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNOT2 chr12 70679744 70679894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNOT2 chr12 70684074 70684576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNOT2 chr12 70690547 70690590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNOT2 chr12 70733295 70762527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNOT2,KCNMB4 chr12 70752224 70752324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 70774438 70774538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMB4 chr1 27077877 27077977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID1A chr1 27078460 27089456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID1A chr1 27078460 27089456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID1A chr12 70812699 70857923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNMB4 chr12 70820807 70820907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMB4 chr12 70824441 70824541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMB4 chr1 27083086 27083186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID1A chr12 70849987 70966467 Amplification Cancer Affymetrix 250K Sty array 20164920 PTPRB chr1 27089567 27099544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID1A chr1 27089567 27099544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID1A chr12 70902104 70946777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRB chr12 70940980 71362043 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PTPRB,PTPRR chr12 70952730 71345688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRB,PTPRR chr12 70952730 71345688 Gain and loss Pancreatic cancer SNP array 17952125 PTPRB,PTPRR chr12 70952730 71345688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRB,PTPRR chr12 70966468 132349534 Loss Wilms tumour 250K Genotyping Arrays 21544195 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LGR5,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MRS2P2,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRB,PTPRQ,PTPRR,PWP1,PXN,PXN-AS1,RAB21,RAB35,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBC1D15,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,THAP2,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM19,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TPH2,TRAFD1,TRHDE,TRHDE-AS1,TRIAP1,TRPV4,TSPAN19,TSPAN8,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZFC3H1,ZNF664,ZNF664-FAM101A chr12 70988032 71021287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRB chr12 71011408 71011558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRB chr12 71026070 71026122 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRB chr12 71079303 72125008 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LGR5,PTPRR,THAP2,TMEM19,TSPAN8,ZFC3H1 chr1 27109449 27165545 Gain and loss Pancreatic cancer SNP array 17952125 PIGV,ZDHHC18 chr12 71096169 71138463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRR chr1 27110566 27113047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27110566 27113047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 71114120 71114220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRR chr12 71117466 71117566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRR chr12 71168873 71234730 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PTPRR chr12 71178640 71178725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRR chr12 71188692 71188759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRR chr1 27120811 27145475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGV chr1 27120811 27145475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGV chr12 71263958 71264119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRR chr12 71276974 71537376 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PTPRR,TSPAN8 chr12 71303715 71303800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRR chr12 7138290 7153069 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr12 7138292 7153069 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7138294 7153069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7138294 7153069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 71405034 72278459 LOH Normal High-resolution SNP genotyping 21211785 LGR5,MRS2P2,RAB21,TBC1D15,THAP2,TMEM19,TSPAN8,ZFC3H1 chr12 71452245 71452354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 71470498 71470692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27148648 27159484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZDHHC18 chr1 27148648 27159484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZDHHC18 chr12 71500000 86700000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ACSS3,ALX1,ATXN7L3B,BBS10,CAPS2,CCDC59,CSRP2,E2F7,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LGR5,LIN7A,LOC100507377,LRRIQ1,METTL25,MGAT4C,MIR1252,MIR4699,MIR5692B,MIR617,MIR618,MRS2P2,MYF5,MYF6,NAP1L1,NAV3,NTS,OSBPL8,OTOGL,PAWR,PHLDA1,PPFIA2,PPP1R12A,PTPRQ,RAB21,RASSF9,SLC6A15,SYT1,TBC1D15,THAP2,TMEM19,TMTC2,TPH2,TRHDE,TRHDE-AS1,TSPAN19,TSPAN8,ZDHHC17,ZFC3H1 chr12 71518822 73051957 LOH Normal High-resolution SNP genotyping 21211785 LGR5,MRS2P2,RAB21,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,ZFC3H1 chr12 71522970 73051957 LOH Normal High-resolution SNP genotyping 21211785 LGR5,MRS2P2,RAB21,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,TSPAN8,ZFC3H1 chr12 7152443 7165701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 71525313 71525476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN8 chr12 71525416 71525473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN8 chr12 71525468 71525673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN8 chr12 71525470 71525570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN8 chr12 71577316 72264130 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LGR5,MRS2P2,RAB21,TBC1D15,THAP2,TMEM19,ZFC3H1 chr12 71579825 71579935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 27160255 27160649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZDHHC18 chr12 7162657 7162756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7162657 7162763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7162658 7162753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 71633587 71633687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 71675028 71675187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 7167557 7172754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1S chr12 7167557 7172754 Gain and loss Pancreatic cancer SNP array 17952125 C1S chr12 7167557 7172754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1S chr12 71727176 73479636 LOH Normal High-resolution SNP genotyping 21211785 LGR5,MRS2P2,RAB21,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,ZFC3H1 chr12 71730160 71773190 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 7174233 7202797 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 C1R,C1S chr12 7174234 7202793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1R,C1S chr12 7174234 7202793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1R,C1S chr12 7174237 7202795 Gain and loss Pancreatic cancer SNP array 17952125 C1R,C1S chr12 71751827 71751927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7177879 7178352 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 C1S chr1 27179165 27180053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZDHHC18 chr1 27182706 27183102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 71842172 73271767 LOH Normal High-resolution SNP genotyping 21211785 LGR5,MRS2P2,RAB21,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,ZFC3H1 chr1 27184975 27185418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27184975 27185418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 71855349 71889982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LGR5 chr12 71857026 73276174 LOH Normal High-resolution SNP genotyping 21211785 LGR5,MRS2P2,RAB21,TBC1D15,THAP2,TMEM19,TPH2,TRHDE,TRHDE-AS1,ZFC3H1 chr1 27187710 27187910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 27192001 27212000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPN2 chr1 27192782 27199964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27192782 27199964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 72023299 72024132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFC3H1 chr1 27204100 27211914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPN2 chr1 27204100 27211914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPN2 chr12 72067767 72067867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THAP2 chr12 72073610 72073695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THAP2 chr1 27211469 27212106 Gain and loss Pancreatic cancer SNP array 17952125 GPN2 chr1 27212001 27529500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf172,FAM46B,GPATCH3,GPN2,NR0B2,NUDC,SLC9A1,TRNP1 chr12 72172307 72172407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB21 chr1 27217563 27218423 Gain and loss Pancreatic cancer SNP array 17952125 GPATCH3 chr1 27221897 27222117 Gain and loss Pancreatic cancer SNP array 17952125 GPATCH3 chr12 72277693 72283646 Loss Normal Birdsuite, version 1.5.2 22087296 TBC1D15 chr12 72320623 72320730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D15 chr1 27233806 27297492 Loss Normal Birdsuite, version 1.5.2 22087296 C1orf172,NR0B2,NUDC chr12 7234224 7255342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1R,C1RL chr12 7234224 7255342 Gain and loss Pancreatic cancer SNP array 17952125 C1R,C1RL chr12 7234224 7255342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1R,C1RL chr12 72359235 72359333 Gain and loss Pancreatic cancer SNP array 17952125 TPH2 chr12 72359235 72359333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPH2 chr1 27238548 27238635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR0B2 chr12 72390099 72391848 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TPH2 chr12 72411000 72411100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPH2 chr12 72436158 72436228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 72444325 72444460 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 72444325 72444461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 72444326 72444460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27245301 27318877 Gain and loss Pancreatic cancer SNP array 17952125 C1orf172,NUDC chr12 724754 745602 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NINJ2 chr12 72496987 72497686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 7249793 7249840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1RL chr12 72561457 72795885 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 TRHDE,TRHDE-AS1 chr12 72579917 72579999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 72580574 72643398 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 72585400 72585500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 72596017 73080626 Amplification Cancer Affymetrix 250K Sty array 20164920 TRHDE,TRHDE-AS1 chr12 72599152 72643398 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 72638877 72801220 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 TRHDE,TRHDE-AS1 chr1 27266100 27266200 Gain and loss Pancreatic cancer SNP array 17952125 NUDC chr12 72670848 72670945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRHDE chr12 72721098 72721198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRHDE chr12 72731874 74547138 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100507377,TRHDE chr1 27275742 27275792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 72783377 72783477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRHDE chr12 72827978 73306021 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TRHDE chr12 72847101 72875146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRHDE chr12 72858076 72858288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRHDE chr12 72879048 72879161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRHDE chr12 72879238 72879338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRHDE chr12 72883000 73354000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 TRHDE chr12 729214 60119327 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 A2M,A2M-AS1,A2ML1,A2MP1,AAAS,ABCC9,ABCD2,ACRBP,ACSM4,ACVR1B,ACVRL1,ADAMTS20,ADCY6,ADIPOR2,AEBP2,AGAP2,AICDA,AKAP3,ALG10,ALG10B,AMHR2,AMIGO2,AMN1,ANKRD33,ANKRD52,ANO2,ANO6,ANP32D,APOBEC1,APOF,APOLD1,AQP2,AQP5,AQP6,ARF3,ARHGAP9,ARHGDIB,ARHGEF25,ARID2,ARNTL2,ART4,ASB8,ASIC1,ASUN,ATF1,ATF7,ATF7IP,ATN1,ATP5B,ATP5G2,AVIL,B4GALNT1,BAZ2A,BCAT1,BCDIN3D,BCDIN3D-AS1,BCL2L14,BHLHE41,BICD1,BIN2,BLOC1S1,BLOC1S1-RDH5,C12orf10,C12orf36,C12orf39,C12orf4,C12orf40,C12orf44,C12orf5,C12orf54,C12orf57,C12orf60,C12orf68,C12orf69,C12orf70,C12orf71,C12orf77,C1QL4,C1R,C1RL,C1RL-AS1,C1S,C3AR1,CACNA1C,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,CACNA2D4,CACNB3,CALCOCO1,CAPRIN2,CAPZA3,CASC1,CBX5,CCDC65,CCDC91,CCND2,CCNT1,CD163,CD163L1,CD27,CD27-AS1,CD4,CD63,CD69,CD9,CDCA3,CDK2,CDK4,CDKN1B,CELA1,CERS5,CHD4,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CLSTN3,CMAS,CNPY2,CNTN1,COL2A1,COPS7A,COPZ1,COQ10A,COX14,CPNE8,CREBL2,CS,CSAD,CSDA,CSRNP2,CTDSP2,CYP27B1,DAZAP2,DBX2,DCD,DCP1B,DCTN2,DDIT3,DDN,DDX11,DDX11-AS1,DDX12P,DDX23,DDX47,DENND5B,DENND5B-AS1,DERA,DGKA,DHH,DIP2B,DNAJC14,DNAJC22,DNM1L,DPPA3,DSTNP2,DTX3,DUSP16,DYRK4,EFCAB4B,EIF4B,EMG1,EMP1,ENDOU,ENO2,EPS8,ERBB3,ERC1,ERGIC2,ERP27,ESPL1,ESYT1,ETNK1,ETV6,FAIM2,FAM186A,FAM186B,FAM60A,FAM66C,FAM86FP,FAM90A1,FAR2,FBXL14,FGD4,FGF23,FGF6,FGFR1OP2,FIGNL2,FKBP11,FKBP4,FLJ12825,FLJ13224,FMNL3,FOXJ2,FOXM1,GABARAPL1,GALNT6,GALNT8,GAPDH,GDF11,GDF3,GLI1,GLS2,GLYCAM1,GNB3,GOLT1B,GPD1,GPR162,GPR182,GPR19,GPR84,GPRC5A,GPRC5D,GRASP,GRIN2B,GSG1,GTSF1,GUCY2C,GXYLT1,GYS2,H1FNT,H2AFJ,H3F3C,HDAC7,HEBP1,HIGD1C,HIST4H4,HNRNPA1,HNRNPA1P10,HOTAIR,HOXC-AS5,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,HSD17B6,HTR7P1,IAPP,IFFO1,IFLTD1,IGFBP6,IKZF4,IL23A,ING4,INHBC,INHBE,IPO8,IRAK4,ITFG2,ITGA5,ITGA7,ITGB7,ITPR2,KANSL2,KCNA1,KCNA5,KCNA6,KCNH3,KCNJ8,KIAA0528,KIAA1467,KIAA1551,KIF21A,KIF5A,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,KRT1,KRT18,KRT2,KRT3,KRT4,KRT5,KRT6A,KRT6B,KRT6C,KRT7,KRT71,KRT72,KRT73,KRT74,KRT75,KRT76,KRT77,KRT78,KRT79,KRT8,KRT80,KRT81,KRT82,KRT83,KRT84,KRT85,KRT86,LACRT,LAG3,LALBA,LARP4,LDHB,LEPREL2,LETMD1,LIMA1,LINC00477,LINC00592,LINC00612,LMBR1L,LMO3,LOC100130776,LOC100240734,LOC100240735,LOC100271702,LOC100287314,LOC100292680,LOC100335030,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC100506844,LOC100507424,LOC100652999,LOC101055625,LOC255411,LOC283332,LOC283335,LOC283403,LOC283440,LOC338817,LOC374443,LOC389634,LOC400027,LOC400043,LOC642846,LOH12CR1,LOH12CR2,LPAR5,LPCAT3,LRIG3,LRMP,LRP1,LRP6,LRRC23,LRRK2,LRTM2,LTBR,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MAP3K12,MARCH9,MARS,MBD6,MCRS1,MED21,METTL1,METTL20,METTL21B,METTL7A,METTL7B,MFAP5,MFSD5,MGP,MGST1,MIP,MIR1228,MIR1244-1,MIR1244-2,MIR1244-3,MIR1291,MIR1293,MIR141,MIR148B,MIR196A2,MIR200C,MIR26A2,MIR3198-2,MIR3649,MIR3974,MIR4302,MIR4698,MIR4701,MIR613,MIR614,MIR615,MIR920,MLF2,MLL2,MMP19,MRPL51,MRPS35,MUCL1,MYL6,MYL6B,MYO1A,NAB2,NABP2,NACA,NANOG,NANOGNB,NCAPD2,NCKAP1L,NCKAP5L,NDUFA4L2,NDUFA9,NECAP1,NELL2,NEUROD4,NFE2,NINJ2,NOP2,NPFF,NR4A1,NRIP2,NTF3,NXPH4,OLR1,OR10A7,OR10AD1,OR10P1,OR2AP1,OR6C1,OR6C2,OR6C3,OR6C4,OR6C6,OR6C65,OR6C68,OR6C70,OR6C74,OR6C75,OR6C76,OR8S1,OR9K2,ORMDL2,OS9,OVCH1,PA2G4,PAN2,PARP11,PCBP2,PCED1B,PCED1B-AS1,PDE1B,PDE3A,PDE6H,PDZRN4,PEX5,PFDN5,PFKM,PHB2,PHC1,PIANP,PIK3C2G,PIP4K2C,PKP2,PLBD1,PLCZ1,PLEKHA5,PLEKHA8P1,PLEKHG6,PMEL,POU5F1P3,POU6F1,PPFIBP1,PPHLN1,PPP1R1A,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRICKLE1,PRIM1,PRKAG1,PRMT8,PRPF40B,PRPH,PRR13,PRR4,PTGES3,PTHLH,PTMS,PTPN6,PTPRO,PUS7L,PYROXD1,PZP,R3HDM2,RAB5B,RACGAP1,RACGAP1P,RAD51AP1,RAD52,RAPGEF3,RARG,RASSF8,RBMS2,RBP5,RDH16,RDH5,RECQL,REP15,RERG,RERGL,RHEBL1,RHNO1,RIMKLB,RND1,RNF41,RNU6-19,RNU6-78,RNY5,RPAP3,RPL13AP20,RPL13P5,RPL41,RPS26,SARNP,SCAF11,SCARNA10,SCARNA11,SCARNA12,SCN8A,SCNN1A,SDR9C7,SENP1,SHMT2,SKP1P2,SLC11A2,SLC15A5,SLC16A7,SLC26A10,SLC2A13,SLC2A14,SLC2A3,SLC38A1,SLC38A2,SLC38A4,SLC39A5,SLC48A1,SLC4A8,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SMAGP,SMARCC2,SMARCD1,SMUG1,SNORA2A,SNORA2B,SNORA34,SNORD59A,SNORD59B,SOAT2,SOX5,SP1,SP7,SPATS2,SPRYD3,SPRYD4,SPSB2,SSPN,ST8SIA1,STAC3,STAT2,STAT6,STK38L,STRAP,STYK1,SUOX,SYT10,TAC3,TAPBPL,TARBP2,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TEAD4,TENC1,TESPA1,TFCP2,TIMELESS,TM7SF3,TMBIM6,TMEM106C,TMEM117,TMEM194A,TMEM198B,TMEM52B,TMPRSS12,TMTC1,TNFRSF1A,TPI1,TROAP,TSFM,TSPAN11,TSPAN31,TSPAN9,TUBA1A,TUBA1B,TUBA1C,TULP3,TWF1,USP5,VAMP1,VDR,VWF,WBP11,WIBG,WNK1,WNT1,WNT10B,WNT5B,XRCC6BP1,YAF2,YARS2,ZBTB39,ZC3H10,ZCRB1,ZNF384,ZNF385A,ZNF641,ZNF705A,ZNF740 chr12 72930845 72934322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRHDE chr1 27297893 27366059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM46B,TRNP1 chr1 27297893 27366059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM46B,TRNP1 chr12 7299289 7299792 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CLSTN3 chr12 73121061 73121141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 73197911 73197987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 73217874 73221498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 73221167 73221414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 73221167 73221414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 732350 888835 Gain and loss Pancreatic cancer SNP array 17952125 NINJ2,WNK1 chr12 732350 890879 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NINJ2,WNK1 chr12 732485 890879 Copy number Lung cancer - 20668451 NINJ2,WNK1 chr12 732485 890879 Gain or loss Breast cancer - 20668451 NINJ2,WNK1 chr12 732485 890879 Gain or loss Cancer - 20668451 NINJ2,WNK1 chr12 732485 890879 Gain or loss Lung cancer - 20668451 NINJ2,WNK1 chr12 732485 890879 Gain or loss Ovarian cancer - 20668451 NINJ2,WNK1 chr12 732485 890879 Gain or loss Pancreas cancer - 20668451 NINJ2,WNK1 chr12 732485 890879 Gain or loss Prostate cancer - 20668451 NINJ2,WNK1 chr12 732486 890879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NINJ2,WNK1 chr12 732486 890879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NINJ2,WNK1 chr12 73251194 73251302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 27325391 27325503 Gain and loss Pancreatic cancer SNP array 17952125 TRNP1 chr1 27332864 27347032 Gain and loss Pancreatic cancer SNP array 17952125 FAM46B chr12 73337388 73345187 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 73343812 73344188 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 73343812 73344188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27335852 27335958 Gain and loss Pancreatic cancer SNP array 17952125 FAM46B chr12 73380213 73381213 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 73397842 73401736 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr12 734001 894000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NINJ2,WNK1 chr12 73440723 73441723 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 73459440 73460440 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 73459532 73492150 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 7348195 7372224 Gain and loss Pancreatic cancer SNP array 17952125 PEX5 chr12 7348209 7372236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PEX5 chr12 7348209 7372236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEX5 chr12 73490971 73491036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 73509415 73510415 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 27352655 27364563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 73530733 73530815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 735997 739370 Loss Normal Birdsuite, version 1.5.2 22087296 NINJ2 chr12 73620000 74170000 Gain Breast cancer aCGH 21509527 NOT_FOUND chr12 736232 745602 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NINJ2 chr12 73627618 73628618 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 73633736 73633917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 73633736 73633917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 736551 744744 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NINJ2 chr1 27365812 27377479 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 73664306 73664406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 73706075 73707334 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 737062 745044 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NINJ2 chr12 73720163 73889778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 73720163 73889778 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 73720163 73889778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7372997 7407364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 27376155 27376355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27379744 27385471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 73809626 73809684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7381077 7381177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 73819282 73820282 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 73884255 73884355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27389808 27393935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 73913109 74694839 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100507377 chr12 73923678 74741449 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC100507377 chr12 739358 744278 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NINJ2 chr12 739370 744290 Loss Normal Birdsuite, version 1.5.2 22087296 NINJ2 chr12 73945646 73945746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 73945700 73946700 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 73956026 74070969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 73956026 74070969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 73956027 74010103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7398826 7488015 Gain and loss Pancreatic cancer SNP array 17952125 ACSM4 chr12 7398826 7488016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSM4 chr12 7398826 7488016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM4 chr1 27399914 27400551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74014730 74050432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74014730 74050432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 74014730 74050432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27403294 27406455 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 27406008 27406874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27406008 27406874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74071127 74111858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74071156 74104087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 74100000 78700000 Amplification Urothelial cell carcinoma FISH 18451213 ATXN7L3B,BBS10,CAPS2,CSRP2,E2F7,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LOC100507377,NAP1L1,NAV3,OSBPL8,PHLDA1,ZDHHC17 chr12 74100000 78700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATXN7L3B,BBS10,CAPS2,CSRP2,E2F7,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LOC100507377,NAP1L1,NAV3,OSBPL8,PHLDA1,ZDHHC17 chr12 74100000 78700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATXN7L3B,BBS10,CAPS2,CSRP2,E2F7,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LOC100507377,NAP1L1,NAV3,OSBPL8,PHLDA1,ZDHHC17 chr1 27410342 27410562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74103701 76102400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN7L3B,CAPS2,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LOC100507377 chr1 27411634 28148273 LOH Normal High-resolution SNP genotyping 21211785 AHDC1,CD164L2,FAM76A,FCN3,FGR,GPR3,IFI6,LOC644961,MAP3K6,SLC9A1,STX12,SYTL1,TMEM222,WASF2,WDTC1 chr12 74122877 74123877 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 74147066 74147151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 74147501 74710500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100507377 chr12 74157020 74211419 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr12 74160780 74181982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74160780 74181982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74160801 74179158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 27416268 27500811 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A1 chr12 74177686 74191685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74177686 74191685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74177688 74191668 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 74186964 74188320 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 2742001 2766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 74211707 74212707 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 74219915 76934523 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ATXN7L3B,BBS10,CAPS2,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LOC100507377,NAP1L1,OSBPL8,PHLDA1 chr12 74243030 74243130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 74244875 74244975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7425292 11643884 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 A2M,A2M-AS1,A2ML1,A2MP1,ACSM4,AICDA,APOBEC1,C3AR1,CD163,CD163L1,CD69,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4A,CLEC4C,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CSDA,DDX12P,DPPA3,FAM66C,FAM86FP,FAM90A1,FOXJ2,GABARAPL1,GDF3,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LINC00612,LOC100499405,LOC374443,LOC389634,LOC642846,M6PR,MAGOHB,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,NANOG,NANOGNB,NECAP1,OLR1,PHC1,POU5F1P3,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PZP,RIMKLB,SLC2A14,SLC2A3,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,ZNF705A chr12 74257132 132349534 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,ATXN7L3B,B3GNT4,BBS10,BCL7A,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CAPS2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CSRP2,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,E2F7,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLIPR1,GLIPR1L1,GLIPR1L2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCNC2,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRR1,KRT19P2,KSR2,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC100507377,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR1252,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NAP1L1,NAV3,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OSBPL8,OTOGL,P2RX4,P2RX7,PAH,PARPBP,PAWR,PEBP1,PHLDA1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRQ,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,SYT1,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TRAFD1,TRIAP1,TRPV4,TSPAN19,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZDHHC17,ZNF664,ZNF664-FAM101A chr12 74329556 74329656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27433746 27507322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC9A1 chr1 27433746 27507322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A1 chr12 7434674 7450421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 74363745 79091897 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ATXN7L3B,BBS10,CAPS2,CSRP2,E2F7,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LOC100507377,NAP1L1,NAV3,OSBPL8,PHLDA1,ZDHHC17 chr12 74369190 74369286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 74369190 74369316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 74404638 74404721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27441725 27441788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A1 chr12 74420235 74421235 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 74453227 74529227 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC100507377 chr12 74530127 74530227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100507377 chr12 74537895 74537995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100507377 chr12 74574503 74574603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100507377 chr12 74611385 74763510 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 LOC100507377 chr12 74615593 74639231 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100507377 chr12 74618233 74639231 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100507377 chr12 74637880 74638176 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507377 chr12 74637880 74638176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507377 chr12 74637881 74638177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507377 chr12 74644079 74645047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507377 chr12 74644865 74645047 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507377 chr12 74695534 74695618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 74705494 74711823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74705494 74711823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74710116 74711948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 74710501 74711500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 74711501 75477000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN7L3B,KCNC2 chr12 74711904 74712004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 74726225 74764717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 74726227 74764717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74726227 74764717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 74758321 74758421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 74793114 74793214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27481076 27481176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A1 chr12 74842342 74842442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 74890000 76000000 Gain Breast cancer aCGH 21509527 ATXN7L3B,CAPS2,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1 chr12 74958554 74958654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27497594 27556983 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 75013164 75013264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 75017244 84296850 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACSS3,BBS10,CAPS2,CCDC59,CSRP2,E2F7,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LIN7A,METTL25,MIR1252,MIR4699,MIR5692B,MIR617,MIR618,MYF5,MYF6,NAP1L1,NAV3,OSBPL8,OTOGL,PAWR,PHLDA1,PPFIA2,PPP1R12A,PTPRQ,SYT1,TMTC2,ZDHHC17 chr12 75023439 76405190 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CAPS2,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1 chr12 75035815 75035919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 75035818 75035919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 27504484 28494376 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-300K arrays 21546498 AHDC1,CD164L2,EYA3,FAM76A,FCN3,FGR,GPR3,IFI6,LOC644961,MAP3K6,PPP1R8,PTAFR,RPA2,SCARNA1,SMPDL3B,STX12,SYTL1,THEMIS2,TMEM222,WASF2,WDTC1,XKR8 chr12 75057478 75057582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27510318 27510916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27510318 27510916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7511320 7511417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD163L1 chr12 75119015 75262673 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr12 75128732 75128832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 751308 752432 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 NINJ2 chr1 27513836 27513948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7514681 7547553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD163L1 chr12 7514681 7547553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD163L1 chr12 7515021 7547639 Gain and loss Pancreatic cancer SNP array 17952125 CD163L1 chr12 75153844 75153922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 75154111 76132494 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAPS2,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1 chr12 75195155 75196155 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 75196750 75197750 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 75212000 75212229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 27521276 27535477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27521276 27535477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75226413 84876179 Deletion Acute myeloid leukemia - 21251322 ACSS3,BBS10,CAPS2,CCDC59,CSRP2,E2F7,GLIPR1,GLIPR1L1,GLIPR1L2,KCNC2,KRR1,LIN7A,METTL25,MIR1252,MIR4699,MIR5692B,MIR617,MIR618,MYF5,MYF6,NAP1L1,NAV3,OSBPL8,OTOGL,PAWR,PHLDA1,PPFIA2,PPP1R12A,PTPRQ,SYT1,TMTC2,ZDHHC17 chr12 75233662 75233963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75233663 75233892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75240980 75244675 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 27524297 27524403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27524407 27524874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75248048 75456057 Gain and loss Pancreatic cancer SNP array 17952125 KCNC2 chr12 75262397 75266353 Copy number Autism exome sequencing 22495311 NOT_FOUND chr12 75262397 75266353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75262397 75266353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75269720 75477720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNC2 chr12 75269720 75477720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNC2 chr1 27529501 27607000 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDTC1 chr12 75368045 75368135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27541100 27553008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27541100 27553008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75424830 75425940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 75430660 75430753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27543647 27543928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27545334 27560317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 75465946 75465996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNC2 chr12 75467362 75467462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNC2 chr12 75470657 75504982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNC2 chr12 75477001 75478000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNC2 chr12 75478001 75563000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNC2 chr12 75495916 75496718 Gain and loss Pancreatic cancer SNP array 17952125 KCNC2 chr12 75517570 75518381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNC2 chr12 75519914 75520014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNC2 chr12 75530336 75530397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNC2 chr1 27554256 27565924 Gain or loss Breast cancer - 20668451 WDTC1 chr1 27554256 27565924 Gain or loss Cancer - 20668451 WDTC1 chr1 27554256 27565924 Gain or loss Lung cancer - 20668451 WDTC1 chr1 27554256 27565924 Gain or loss Ovarian cancer - 20668451 WDTC1 chr1 27554256 27565924 Gain or loss Pancreas cancer - 20668451 WDTC1 chr1 27554256 27565924 Gain or loss Prostate cancer - 20668451 WDTC1 chr1 27554257 27565970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr1 27554257 27565970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr12 75556653 75556958 Gain and loss Pancreatic cancer SNP array 17952125 KCNC2 chr12 75563001 75564000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNC2 chr12 75564001 75681500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPS2,KCNC2 chr12 75593691 75593791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNC2 chr12 75659836 75749942 Gain and loss Pancreatic cancer SNP array 17952125 CAPS2,GLIPR1L1 chr1 27567601 27567887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr12 75681499 75771605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPS2,GLIPR1L1 chr12 75681499 75771605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPS2,GLIPR1L1 chr12 75681501 75682500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPS2 chr1 27568189 27573916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr1 27568189 27573916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr12 75682501 75796000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPS2,GLIPR1L1,GLIPR1L2 chr12 75702738 75702838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPS2 chr12 75736464 75768788 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GLIPR1L1 chr12 75754964 75775267 Gain and loss Pancreatic cancer SNP array 17952125 GLIPR1L1 chr12 75776627 75796930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIPR1L2 chr1 27578183 27582457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr1 27578183 27582457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr12 75790127 75819580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLIPR1L2 chr12 75796001 75797500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GLIPR1L2 chr12 75797501 75983000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GLIPR1,GLIPR1L2,KRR1 chr12 7580074 7580169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD163L1 chr12 75834444 78322033 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BBS10,CSRP2,E2F7,GLIPR1,KRR1,NAP1L1,NAV3,OSBPL8,PHLDA1,ZDHHC17 chr1 27588559 27589236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr1 27591738 27594904 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 WDTC1 chr1 27591739 27594900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr1 27591739 27594900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDTC1 chr12 75917501 75961815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 75931096 75931274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 75939157 75983491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75939157 75983491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 75951515 76259083 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 NOT_FOUND chr12 7597919 7597977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 75983001 75984000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 75984001 77304500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BBS10,CSRP2,NAP1L1,OSBPL8,PHLDA1,ZDHHC17 chr1 27600000 34400000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ADC,AHDC1,AK2,ATPIF1,BAI2,BSDC1,CCDC28B,CD164L2,COL16A1,CSMD2,DCDC2B,DNAJC8,EIF3I,EPB41,EYA3,FABP3,FAM167B,FAM76A,FCN3,FGR,FNDC5,GMEB1,GPR3,HCRTR1,HDAC1,HMGB4,HPCA,IFI6,IQCC,KHDRBS1,KIAA1522,KPNA6,LAPTM5,LCK,LOC100128071,LOC149086,LOC284551,LOC402779,LOC644961,MAP3K6,MARCKSL1,MATN1,MATN1-AS1,MECR,MED18,MIR3605,MIR4254,MIR4420,MTMR9LP,NKAIN1,OPRD1,PEF1,PHACTR4,PHC2,PPP1R8,PTAFR,PTP4A2,PTPRU,PUM1,RAB42,RBBP4,RCC1,RNF19B,RNU11,RPA2,S100PBP,SCARNA1,SDC3,SERINC2,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPOCD1,SRSF4,STX12,SYNC,SYTL1,TAF12,THEMIS2,TINAGL1,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM54,TRIM62,TRNAU1AP,TSSK3,TXLNA,WASF2,WDTC1,XKR8,YARS,YTHDF2,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZNF362,ZSCAN20 chr1 27600000 38200000 Copy number Schizophrenia - 22118685 ADC,ADPRHL2,AHDC1,AK2,ATPIF1,BAI2,BSDC1,C1orf109,C1orf212,C1orf216,C1orf94,CCDC28B,CD164L2,CDCA8,CLSPN,COL16A1,COL8A2,CSF3R,CSMD2,DCDC2B,DLGAP3,DNAJC8,DNALI1,EIF2C1,EIF2C3,EIF2C4,EIF3I,EPB41,EPHA10,EYA3,FABP3,FAM167B,FAM176B,FAM76A,FCN3,FGR,FNDC5,GJA4,GJB3,GJB4,GJB5,GMEB1,GNL2,GPR3,GRIK3,HCRTR1,HDAC1,HMGB4,HPCA,IFI6,IQCC,KHDRBS1,KIAA0319L,KIAA1522,KPNA6,LAPTM5,LCK,LOC100128071,LOC149086,LOC284551,LOC402779,LOC644961,LOC653160,LOC728431,LSM10,MAP3K6,MAP7D1,MARCKSL1,MATN1,MATN1-AS1,MEAF6,MECR,MED18,MIR3605,MIR4254,MIR4255,MIR4420,MIR5581,MRPS15,MTMR9LP,NCDN,NKAIN1,OPRD1,OSCP1,PEF1,PHACTR4,PHC2,PPP1R8,PSMB2,PTAFR,PTP4A2,PTPRU,PUM1,RAB42,RBBP4,RCC1,RNF19B,RNU11,RPA2,RSPO1,S100PBP,SCARNA1,SDC3,SERINC2,SESN2,SFPQ,SH3D21,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPOCD1,SRSF4,STK40,STX12,SYNC,SYTL1,TAF12,TEKT2,TFAP2E,THEMIS2,THRAP3,TINAGL1,TMEM200B,TMEM222,TMEM234,TMEM39B,TMEM54,TRAPPC3,TRIM62,TRNAU1AP,TSSK3,TXLNA,WASF2,WDTC1,XKR8,YARS,YTHDF2,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZSCAN20 chr12 7603846 7603944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7603967 7604201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7603968 7604104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27604713 27689256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC644961,MAP3K6,SYTL1,TMEM222,WDTC1 chr1 27604713 27689256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC644961,MAP3K6,SYTL1,TMEM222,WDTC1 chr12 760558 760626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NINJ2 chr12 760559 760687 Gain and loss Pancreatic cancer SNP array 17952125 NINJ2 chr12 760559 760687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NINJ2 chr12 76059183 76059273 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 76067661 76092534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 76080846 76080936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 76102401 76431300 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHLDA1 chr12 76118748 76118843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 76198156 76198856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 27622953 27645828 Gain and loss Pancreatic cancer SNP array 17952125 WDTC1 chr12 76317266 76680271 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NAP1L1,PHLDA1 chr12 76362954 76363055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 76405190 78971299 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 BBS10,CSRP2,E2F7,NAP1L1,NAV3,OSBPL8,PHLDA1,ZDHHC17 chr12 76421048 76421342 Gain and loss Pancreatic cancer SNP array 17952125 PHLDA1 chr12 76432788 76433110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 76468977 76469062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAP1L1 chr12 76475271 76475359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAP1L1 chr1 2765000 3062000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 ACTRT2,FLJ42875,MIR4251,PRDM16 chr1 2765000 3062000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 ACTRT2,FLJ42875,MIR4251,PRDM16 chr12 76500633 76500733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 76535245 76571911 Gain Normal 244K array 17666407 NOT_FOUND chr12 7655325 7655425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD163 chr12 76578649 76578749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2766001 2821500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 27660072 27660263 Gain and loss Pancreatic cancer SNP array 17952125 TMEM222 chr12 76623149 76624869 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 76639782 76639817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7664262 7664324 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7664262 7664324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7664327 7664392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7664327 7664392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 76644171 76644271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7670420 7670487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7670420 7670487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7671570 7671637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7671570 7671637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 76727665 77109256 Gain and loss Pancreatic cancer SNP array 17952125 BBS10,OSBPL8 chr12 76730890 76730984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 76749199 77130921 Amplification Urothelial cell carcinoma FISH 18451213 OSBPL8 chr12 76749200 77130921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBPL8 chr12 76749200 77130921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL8 chr1 27676700 27677028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYTL1 chr1 27676725 27682850 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K6,SYTL1 chr12 76822832 76823059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL8 chr12 76822921 76823021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL8 chr12 76823044 76823144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL8 chr12 76836754 77484790 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CSRP2,E2F7,OSBPL8,ZDHHC17 chr12 76852527 77064746 Amplification Cancer Affymetrix 250K Sty array 20164920 OSBPL8 chr1 27686256 27686362 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K6 chr1 2768774 3138166 Amplification or deletion Cancer Array CGH 17440070 ACTRT2,FLJ42875,MIR4251,PRDM16 chr12 76900130 76900306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OSBPL8 chr12 7690909 7691858 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr12 76918713 76921064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OSBPL8 chr12 7693264 7709769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7693264 7709769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7693264 7709769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 76958611 76989809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 7696275 8062485 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 APOBEC1,CLEC4C,DPPA3,GDF3,NANOG,NANOGNB,SLC2A14 chr12 76994344 77563676 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CSRP2,E2F7,ZDHHC17 chr12 77015868 77711241 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CSRP2,E2F7,ZDHHC17 chr1 27702974 28279739 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AHDC1,CD164L2,FAM76A,FGR,GPR3,IFI6,PPP1R8,RPA2,SCARNA1,SMPDL3B,STX12,THEMIS2,WASF2 chr1 27704384 27704485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 77074637 77074695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77092209 77092309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77093625 77093731 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 7713851 7715100 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 7713911 7715588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 27718501 27816500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR3,WASF2 chr12 77198629 77198732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZDHHC17 chr12 7724094 7724217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 77248711 77248811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77253468 77278159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSRP2 chr12 77265511 77265543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSRP2 chr12 77304501 79225000 Copy number Normal ReadDepth: A Parallel R Package 21305028 E2F7,NAV3 chr1 27733133 27803275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WASF2 chr1 27733133 27803275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WASF2 chr12 7733649 7739656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7733649 7739656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7733649 7739656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 77347689 77347789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77358165 77358250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27736632 27772617 Gain and loss Pancreatic cancer SNP array 17952125 WASF2 chr12 7738494 7769522 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 77409199 77440468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 E2F7 chr1 27744219 27744319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WASF2 chr12 7748086 7989956 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOBEC1,CLEC4C,DPPA3,GDF3,NANOG,NANOGNB,SLC2A14 chr12 7748086 8399960 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOBEC1,C3AR1,CLEC4A,CLEC4C,DPPA3,FAM66C,FAM86FP,FAM90A1,FOXJ2,GDF3,NANOG,NANOGNB,NECAP1,POU5F1P3,SLC2A14,SLC2A3,ZNF705A chr12 7748086 8515254 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 APOBEC1,C3AR1,CLEC4A,CLEC4C,DPPA3,FAM66C,FAM86FP,FAM90A1,FOXJ2,GDF3,LOC389634,NANOG,NANOGNB,NECAP1,POU5F1P3,SLC2A14,SLC2A3,ZNF705A chr12 7748086 8515254 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOBEC1,C3AR1,CLEC4A,CLEC4C,DPPA3,FAM66C,FAM86FP,FAM90A1,FOXJ2,GDF3,LOC389634,NANOG,NANOGNB,NECAP1,POU5F1P3,SLC2A14,SLC2A3,ZNF705A chr12 77496619 77517169 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 7750212 7750355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 27750693 27751207 Gain and loss Pancreatic cancer SNP array 17952125 WASF2 chr1 2775209 2970210 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACTRT2 chr1 2775209 2970210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTRT2 chr12 7755317 7761417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7755317 7761417 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7755317 7761417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7764270 8036678 Duplication Nasopharyngeal cancer Partek Segmentation 20548289 APOBEC1,CLEC4C,DPPA3,GDF3,NANOG,NANOGNB,SLC2A14 chr12 77642925 77643020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77688481 77688536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 77689769 77690362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 77711432 77712025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7773278 7791368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7773278 7793336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7773278 7793336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 77760241 78348254 Gain and loss Pancreatic cancer SNP array 17952125 NAV3 chr12 77781903 78368973 Amplification Intellectual disability 100k SNP Array 21811512 NAV3 chr12 77781904 78369917 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NAV3 chr12 77781904 78369917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAV3 chr12 77781904 78369917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV3 chr12 77785447 77785547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77788028 78767461 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NAV3 chr1 27778881 27779024 Gain and loss Pancreatic cancer SNP array 17952125 WASF2 chr12 77795015 79265459 LOH Normal High-resolution SNP genotyping 21211785 NAV3,SYT1 chr12 77798378 77873221 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 77818000 95419000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ACSS3,ALX1,ATP2B1,BTG1,C12orf29,C12orf50,C12orf74,CCDC41,CCDC59,CCER1,CEP290,CLLU1,CLLU1OS,CRADD,DCN,DUSP6,EEA1,EPYC,GALNT4,KERA,KITLG,KRT19P2,LIN7A,LINC00615,LOC144486,LOC256021,LOC338758,LOC643339,LOC728084,LRRIQ1,LUM,METTL25,MGAT4C,MIR1252,MIR4699,MIR492,MIR548AL,MIR5692B,MIR5700,MIR617,MIR618,MKRN9P,MRPL42,MYF5,MYF6,NAV3,NDUFA12,NR2C1,NTS,NUDT4,NUDT4P1,OTOGL,PAWR,PLEKHG7,PLXNC1,POC1B,POC1B-GALNT4,PPFIA2,PPP1R12A,PTPRQ,RASSF9,SLC6A15,SOCS2,SOCS2-AS1,SYT1,TMCC3,TMTC2,TMTC3,TSPAN19,UBE2N chr1 27783925 27834956 Gain and loss Pancreatic cancer SNP array 17952125 WASF2 chr12 77864705 80444582 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 MIR1252,MIR5692B,NAV3,PAWR,PPP1R12A,SYT1 chr12 77864705 80444582 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-741K arrays 21546498 MIR1252,MIR5692B,NAV3,PAWR,PPP1R12A,SYT1 chr12 77910004 77910104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77963353 77963453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77965008 77965047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77977337 77977437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 77985301 77985386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27800000 120700000 Deletion Medulloblastoma SNP arrays 21979893 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AHDC1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,AP4B1,AP4B1-AS1,ARHGAP29,ARTN,ASB17,ATG4C,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf52,C1orf87,C1orf88,C1orf94,C8A,C8B,CACHD1,CAP1,CAPZA1,CASQ2,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD2,CD53,CD58,CDC14A,CDC20,CDC7,CDCA8,CDCP2,CDKN2C,CELSR2,CEPT1,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLSPN,CMPK1,CNN3,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CPT2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,EBNA1BP2,ECHDC2,EDN2,EFCAB7,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,ELTD1,EPB41,EPHA10,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,EVI5,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FAM73A,FAM76A,FGGY,FGR,FHL3,FLJ27354,FLJ31662,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPBP1L1,GPR61,GPR88,GPSM2,GPX7,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCS2,HOOK1,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HYI,IFI44,IFI44L,IFI6,IGSF3,IL12RB2,IL23R,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIF2C,KLF17,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LEPR,LEPRE1,LEPROT,LHX8,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100505768,LOC100506343,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC339442,LOC339524,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC646626,LOC653160,LOC728431,LOC729041,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MANEAL,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MEAF6,MECR,MED18,MED8,MFSD2A,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR30C1,MIR30E,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR4254,MIR4255,MIR4256,MIR4420,MIR4422,MIR4423,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPS15,MSH4,MTF1,MTF2,MTMR9LP,MUTYH,MYBPHL,MYCBP,MYCL1,MYSM1,NASP,NBPF4,NBPF6,NBPF7,NCDN,NDUFS5,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NKAIN1,NOTCH2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OVGP1,OXCT2,PABPC4,PALMD,PARS2,PCSK9,PDE4B,PDZK1IP1,PDZK1IP1-AS1,PEF1,PGCP1,PGM1,PHACTR4,PHC2,PHGDH,PHTF1,PIGK,PIK3R3,PIN1P1,PKN2,PLK3,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAVER2,RBBP4,RBM15,RBMXL1,RCC1,REG4,RHBDL2,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL5,RPS15AP10,RPS8,RRAGC,RSBN1,RSPO1,RTCA,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SELRC1,SEP15,SERBP1,SERINC2,SESN2,SF3A3,SFPQ,SGIP1,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA6,SPOCD1,SRG7,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STX12,STXBP3,SYCP1,SYDE2,SYNC,SYPL2,SYT6,SZT2,TACSTD2,TAF12,TAF13,TAL1,TBX15,TCEANC2,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM234,TMEM39B,TMEM48,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM69,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIT1,TRMT13,TRNAU1AP,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBL4B,UOX,UQCRH,UROD,USP1,USP24,USP33,UTP11L,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WLS,WNT2B,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF642,ZNF643,ZNF644,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 27800000 30000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHDC1,ATPIF1,DNAJC8,EPB41,EYA3,FAM76A,FGR,GMEB1,IFI6,MECR,MED18,OPRD1,PHACTR4,PPP1R8,PTAFR,PTPRU,RAB42,RCC1,RNU11,RPA2,SCARNA1,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STX12,TAF12,THEMIS2,TMEM200B,TRNAU1AP,WASF2,XKR8,YTHDF2 chr1 27800000 30000000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 AHDC1,ATPIF1,DNAJC8,EPB41,EYA3,FAM76A,FGR,GMEB1,IFI6,MECR,MED18,OPRD1,PHACTR4,PPP1R8,PTAFR,PTPRU,RAB42,RCC1,RNU11,RPA2,SCARNA1,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STX12,TAF12,THEMIS2,TMEM200B,TRNAU1AP,WASF2,XKR8,YTHDF2 chr1 27800000 30000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHDC1,ATPIF1,DNAJC8,EPB41,EYA3,FAM76A,FGR,GMEB1,IFI6,MECR,MED18,OPRD1,PHACTR4,PPP1R8,PTAFR,PTPRU,RAB42,RCC1,RNU11,RPA2,SCARNA1,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STX12,TAF12,THEMIS2,TMEM200B,TRNAU1AP,WASF2,XKR8,YTHDF2 chr1 27800000 30000000 Gain Breast cancer Array CGH 16608533 AHDC1,ATPIF1,DNAJC8,EPB41,EYA3,FAM76A,FGR,GMEB1,IFI6,MECR,MED18,OPRD1,PHACTR4,PPP1R8,PTAFR,PTPRU,RAB42,RCC1,RNU11,RPA2,SCARNA1,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STX12,TAF12,THEMIS2,TMEM200B,TRNAU1AP,WASF2,XKR8,YTHDF2 chr1 27800000 30000000 Loss Breast cancer aCGH 21045282 AHDC1,ATPIF1,DNAJC8,EPB41,EYA3,FAM76A,FGR,GMEB1,IFI6,MECR,MED18,OPRD1,PHACTR4,PPP1R8,PTAFR,PTPRU,RAB42,RCC1,RNU11,RPA2,SCARNA1,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STX12,TAF12,THEMIS2,TMEM200B,TRNAU1AP,WASF2,XKR8,YTHDF2 chr1 27800000 32200000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHDC1,ATPIF1,BAI2,COL16A1,DNAJC8,EPB41,EYA3,FABP3,FAM76A,FGR,GMEB1,HCRTR1,IFI6,LAPTM5,LOC149086,LOC284551,MATN1,MATN1-AS1,MECR,MED18,MIR4420,NKAIN1,OPRD1,PEF1,PHACTR4,PPP1R8,PTAFR,PTPRU,PUM1,RAB42,RCC1,RNU11,RPA2,SCARNA1,SDC3,SERINC2,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SRSF4,STX12,TAF12,THEMIS2,TINAGL1,TMEM200B,TRNAU1AP,WASF2,XKR8,YTHDF2,ZCCHC17 chr12 78003039 78003129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 78021180 78894908 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NAV3 chr1 27807940 27808100 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WASF2 chr12 7809079 7817984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOBEC1 chr12 78090865 78090924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 7809727 7908762 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 APOBEC1,CLEC4C,DPPA3,GDF3 chr1 27811390 27834314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WASF2 chr1 27811390 27834314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WASF2 chr12 78149880 78149979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27816501 27885000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHDC1,WASF2 chr12 78172004 78172118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 78203929 78205112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 78210873 78210948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 78231791 78232103 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NAV3 chr12 78252901 79138400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NAV3 chr12 78257496 79080374 LOH Normal High-resolution SNP genotyping 21211785 NAV3 chr12 78258055 78258155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV3 chr12 78280312 79003423 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NAV3 chr12 7828266 7828374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7828268 7828366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7828268 7828375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 78324115 78324210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV3 chr12 78328939 78354969 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NAV3 chr12 78328939 78382899 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NAV3 chr12 7833262 7839922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7833330 7839738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 78337168 78337232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV3 chr1 27835191 27835281 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 27835191 27835299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7838162 7858963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GDF3 chr12 78382824 78410568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAV3 chr12 78395720 78395789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV3 chr12 78396820 78396936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV3 chr12 78396933 78397148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV3 chr12 78396947 78396982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV3 chr1 27841435 27862325 Gain and loss Pancreatic cancer SNP array 17952125 AHDC1 chr12 78421122 78421418 Gain and loss Pancreatic cancer SNP array 17952125 NAV3 chr12 78427725 78427825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAV3 chr12 7844221 7844330 Gain and loss Pancreatic cancer SNP array 17952125 GDF3 chr12 7844224 7844330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDF3 chr12 7844227 7844330 Gain and loss Pancreatic cancer SNP array 17952125 GDF3 chr12 78442785 78443081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV3 chr12 78442788 78443081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV3 chr1 27845054 27845219 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 78455051 78455419 Gain and loss Pancreatic cancer SNP array 17952125 NAV3 chr1 27848517 27848708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 78488402 78587211 Gain and loss Pancreatic cancer SNP array 17952125 NAV3 chr12 7850883 8008336 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CLEC4C,DPPA3,NANOG,NANOGNB,SLC2A14 chr12 78509878 78608921 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NAV3 chr12 78509878 78608921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAV3 chr12 78509878 78608921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAV3 chr12 7856383 7907318 Gain and loss Pancreatic cancer SNP array 17952125 CLEC4C,DPPA3 chr12 7856383 7916762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC4C,DPPA3 chr12 7856383 7916762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC4C,DPPA3 chr12 7857554 8022176 Copy number Lung cancer paired-end sequencing 18438408 CLEC4C,DPPA3,NANOG,NANOGNB,SLC2A14 chr12 78586361 80330827 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR1252,MIR5692B,NAV3,PAWR,PPP1R12A,SYT1 chr1 27858932 27859014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27861227 27861397 Gain and loss Pancreatic cancer SNP array 17952125 AHDC1 chr12 7861988 8014492 Duplication Normal Affymetrix 6.0 microarrays 20967226 CLEC4C,DPPA3,NANOG,NANOGNB,SLC2A14 chr12 7861988 8017012 Copy number Type 2 diabetes ILLumia HumanHap317 BeadChip 21526130 CLEC4C,DPPA3,NANOG,NANOGNB,SLC2A14 chr1 27865159 27871311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHDC1 chr1 27865159 27871311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHDC1 chr12 78656671 78662359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 78656790 78674803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 78661991 78670448 Loss Normal 244K array 17666407 NOT_FOUND chr12 78662495 78667429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 78670654 78831703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 78676629 78687482 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 78692317 78852842 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 78692317 78852842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2786942 2787026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 78700000 85100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSS3,CCDC59,LIN7A,METTL25,MIR1252,MIR4699,MIR5692B,MIR617,MIR618,MYF5,MYF6,OTOGL,PAWR,PPFIA2,PPP1R12A,PTPRQ,SYT1,TMTC2 chr12 78700000 85100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSS3,CCDC59,LIN7A,METTL25,MIR1252,MIR4699,MIR5692B,MIR617,MIR618,MYF5,MYF6,OTOGL,PAWR,PPFIA2,PPP1R12A,PTPRQ,SYT1,TMTC2 chr12 78700000 87500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSS3,ALX1,CCDC59,LIN7A,LRRIQ1,METTL25,MGAT4C,MIR1252,MIR4699,MIR548AL,MIR5692B,MIR617,MIR618,MYF5,MYF6,NTS,OTOGL,PAWR,PPFIA2,PPP1R12A,PTPRQ,RASSF9,SLC6A15,SYT1,TMTC2,TSPAN19 chr12 7872847 7873390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 7873019 8019618 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7873019 8019618 Copy number gain Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr1 27874701 27874807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHDC1 chr1 27877249 27877324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AHDC1 chr12 78774553 78774670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 78774555 78774663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 78784294 78819226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 78796216 78796330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 7882051 7882142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC4C chr12 7882951 8015652 Loss Autism Exome sequencing and CGH 22495309 CLEC4C,NANOG,NANOGNB,SLC2A14 chr1 27883228 27897327 Gain and loss Pancreatic cancer SNP array 17952125 AHDC1 chr12 7884583 8017012 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 CLEC4C,NANOG,NANOGNB,SLC2A14 chr1 27885001 27886500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHDC1 chr1 27885747 27886567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHDC1 chr12 7886042 8008336 Duplication Normal Affymetrix 6.0 microarrays 20967226 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886042 8022225 Duplication Normal Affymetrix 6.0 microarrays 20967226 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886054 7895691 Gain Normal Birdsuite, version 1.5.2 22087296 CLEC4C chr12 7886698 8006515 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886698 8006515 Copy number gain Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886698 8014546 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886698 8014546 Copy number gain Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886698 8015792 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886698 8015792 Copy number gain Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886698 8019618 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7886698 8019618 Copy number gain Normal High-resolution SNP genotyping 21211785 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 78894908 80942708 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MIR1252,MIR5692B,OTOGL,PAWR,PPP1R12A,PTPRQ,SYT1 chr12 7891151 7891243 Gain and loss Pancreatic cancer SNP array 17952125 CLEC4C chr12 7891151 7891245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC4C chr12 78923945 78969800 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 27892834 27892933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHDC1 chr12 78938050 80112537 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR1252,MIR5692B,PAWR,SYT1 chr12 7894580 7894681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC4C chr12 7894582 7894680 Gain and loss Pancreatic cancer SNP array 17952125 CLEC4C chr12 7894582 7894681 Gain and loss Pancreatic cancer SNP array 17952125 CLEC4C chr12 78949325 78962982 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 78950116 78962982 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 7895680 8014492 Duplication Normal Affymetrix 6.0 microarrays 20967226 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7895680 8014492 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7895680 8022225 Duplication Normal Affymetrix 6.0 microarrays 20967226 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7895680 8022225 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7895680 8022225 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 7895680 8590221 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3AR1,CLEC4A,CLEC4C,FAM66C,FAM86FP,FAM90A1,FOXJ2,LOC389634,NANOG,NANOGNB,NECAP1,POU5F1P3,SLC2A14,SLC2A3,ZNF705A chr12 7895692 7922997 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CLEC4C,NANOGNB chr12 78964943 78965006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7899054 8014492 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CLEC4C,NANOG,NANOGNB,SLC2A14 chr12 78999137 78999581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7900034 7900333 Gain and loss Pancreatic cancer SNP array 17952125 CLEC4C chr12 7900034 7900333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC4C chr12 79010303 79010388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 27902192 27925378 Gain and loss Pancreatic cancer SNP array 17952125 AHDC1 chr12 7903734 8022225 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NANOG,NANOGNB,SLC2A14 chr12 79080374 79957101 LOH Normal High-resolution SNP genotyping 21211785 MIR1252,MIR5692B,SYT1 chr12 7908745 8033723 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NANOG,NANOGNB,SLC2A14 chr12 7908762 7963275 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NANOG,NANOGNB chr1 2790939 2790993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 79098065 79098224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 79111052 79111152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 79118353 79201937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 79126114 79297001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 79126114 79297001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 79138491 79138666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 7914715 7915238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7915459 7915527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 79156863 79156963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 7916801 7943941 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NANOG,NANOGNB chr12 7916801 7943941 Gain and loss Pancreatic cancer SNP array 17952125 NANOG,NANOGNB chr12 79171836 79698836 LOH Normal High-resolution SNP genotyping 21211785 SYT1 chr12 7918138 7989956 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NANOG,NANOGNB,SLC2A14 chr12 79217408 79217483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 79225001 79226250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 79226251 79739500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYT1 chr12 7922997 7966897 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NANOG,NANOGNB,SLC2A14 chr12 79239807 79240039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 27925077 27961062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHDC1,FGR chr1 27925077 27961062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHDC1,FGR chr12 79251 148500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM138D,LOC100288778 chr12 79252602 79275338 Gain and loss Pancreatic cancer SNP array 17952125 SYT1 chr12 79261396 79261703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 79261470 79261702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 7928275 7928374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 7928275 7928381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 79291631 80947367 LOH Normal High-resolution SNP genotyping 21211785 MIR1252,MIR5692B,OTOGL,PAWR,PPP1R12A,PTPRQ,SYT1 chr12 79303175 79303275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT1 chr1 27931878 27931978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 79337929 79338029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT1 chr12 79349306 79352244 Loss Normal Birdsuite, version 1.5.2 22087296 SYT1 chr1 27938189 27938537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 27939052 27939727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGR chr12 7939360 7943941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NANOG chr12 79420749 79420849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT1 chr1 27945718 27969610 Gain and loss Pancreatic cancer SNP array 17952125 FGR chr12 79468357 79468457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT1 chr1 27948904 27949268 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FGR chr1 27949635 27949735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGR chr12 79535279 81424612 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 LIN7A,MIR1252,MIR5692B,MIR617,MIR618,MYF5,MYF6,OTOGL,PAWR,PPP1R12A,PTPRQ,SYT1 chr12 79565359 79569512 Gain and loss Pancreatic cancer SNP array 17952125 SYT1 chr12 79587022 79591175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 79587022 79591175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 79603920 79605719 Gain and loss Pancreatic cancer SNP array 17952125 SYT1 chr12 79613269 79615915 Gain and loss Pancreatic cancer SNP array 17952125 SYT1 chr12 79625583 79627382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 79625583 79627382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 7963094 7982246 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC2A14 chr12 7963094 7982246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A14 chr12 79634839 79637578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 7963679 7980034 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A14 chr12 7966897 8015167 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SLC2A14 chr1 27967326 27967469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 79693643 79834162 Gain and loss Pancreatic cancer SNP array 17952125 MIR1252,SYT1 chr1 27970115 27978746 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 79715306 79855825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR1252,MIR5692B,SYT1 chr12 79715306 79855825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR1252,MIR5692B,SYT1 chr1 27972281 28023549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFI6 chr1 27972281 28023549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFI6 chr12 79739501 79741500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYT1 chr12 79741501 79854500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR1252,MIR5692B,SYT1 chr12 79750443 79750539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT1 chr12 79750668 79750768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT1 chr12 79802410 80643083 LOH Normal High-resolution SNP genotyping 21211785 MIR1252,MIR5692B,OTOGL,PAWR,PPP1R12A,SYT1 chr1 27981000 28099273 Gain and loss Pancreatic cancer SNP array 17952125 FAM76A,IFI6 chr12 79816624 79862676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR5692B,SYT1 chr12 79837930 79838020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT1 chr12 79853646 79853743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 79854446 79855824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 79854501 79855500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 79855501 83279500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSS3,CCDC59,LIN7A,METTL25,MIR4699,MIR617,MIR618,MYF5,MYF6,OTOGL,PAWR,PPFIA2,PPP1R12A,PTPRQ,TMTC2 chr12 798837 799082 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 798837 799082 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 79917316 79917416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 79974277 80152050 Gain and loss Pancreatic cancer SNP array 17952125 PAWR chr12 7997955 8018067 Substitutions and indels small cell lung cancer array-CGH 20016488 SLC2A14 chr12 79995940 80173713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAWR,PPP1R12A chr12 79995940 80173713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAWR,PPP1R12A chr1 28000000 30200000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 ATPIF1,DNAJC8,EPB41,EYA3,FAM76A,GMEB1,MECR,MED18,OPRD1,PHACTR4,PPP1R8,PTAFR,PTPRU,RAB42,RCC1,RNU11,RPA2,SCARNA1,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STX12,TAF12,THEMIS2,TMEM200B,TRNAU1AP,XKR8,YTHDF2 chr1 28000000 30200000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ATPIF1,DNAJC8,EPB41,EYA3,FAM76A,GMEB1,MECR,MED18,OPRD1,PHACTR4,PPP1R8,PTAFR,PTPRU,RAB42,RCC1,RNU11,RPA2,SCARNA1,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STX12,TAF12,THEMIS2,TMEM200B,TRNAU1AP,XKR8,YTHDF2 chr1 28000000 30200000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ATPIF1,DNAJC8,EPB41,EYA3,FAM76A,GMEB1,MECR,MED18,OPRD1,PHACTR4,PPP1R8,PTAFR,PTPRU,RAB42,RCC1,RNU11,RPA2,SCARNA1,SESN2,SMPDL3B,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,STX12,TAF12,THEMIS2,TMEM200B,TRNAU1AP,XKR8,YTHDF2 chr12 80149 107815 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100288778 chr12 8015167 8028989 Gain Normal Birdsuite, version 1.5.2 22087296 SLC2A14 chr12 80155515 80650468 Gain and loss Pancreatic cancer SNP array 17952125 OTOGL,PPP1R12A chr12 80177486 80677240 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 OTOGL,PPP1R12A chr12 80177487 80672131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OTOGL,PPP1R12A chr12 80177487 80672131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTOGL,PPP1R12A chr12 80190937 80191037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R12A chr12 8020122 8020221 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A14 chr12 8020122 8020223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A14 chr12 80216404 82120457 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSS3,LIN7A,MIR4699,MIR617,MIR618,MYF5,MYF6,OTOGL,PPFIA2,PPP1R12A,PTPRQ chr12 8021801 8026000 Deletion Glioma mate-paired sequence 20126413 SLC2A14 chr1 28023636 28023741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8026239 8189019 Substitutions and indels small cell lung cancer array-CGH 20016488 FOXJ2,SLC2A3 chr1 28029880 28050770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 28029880 28050770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 80300000 133851895 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AACS,ABCB9,ACACB,ACAD10,ACADS,ACSS3,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANHX,ANKLE2,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CDK17,CDK2AP1,CEP290,CHFR,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CUX2,DAO,DCN,DDX51,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,EEA1,EID3,EIF2B1,ELK3,EP400,EP400NL,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBRSL1,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GALNT4,GALNT9,GAS2L3,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GOLGA3,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRT19P2,KSR2,LHX5,LIN7A,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100130238,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRCOL1,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4699,MIR4700,MIR492,MIR5188,MIR548AL,MIR5700,MIR617,MIR618,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MSI1,MTERFD3,MVK,MYBPC1,MYF5,MYF6,MYL2,MYO1H,NAA25,NCOR2,NDUFA12,NEDD1,NFYB,NOC4L,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,OTOGL,P2RX2,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PGAM5,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLE,POLR3B,POP5,PPFIA2,PPP1CC,PPP1R12A,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PTPRQ,PUS1,PWP1,PXMP2,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA49,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TRAFD1,TRIAP1,TRPV4,TSPAN19,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,ULK1,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF10,ZNF140,ZNF26,ZNF268,ZNF605,ZNF664,ZNF664-FAM101A,ZNF84 chr12 80306893 80307867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP1R12A chr12 80309632 80309762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R12A chr12 80309788 80309946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R12A chr1 28033499 28033664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 80370589 80458079 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 80378079 80378179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8041916 8134036 Copy number Lung cancer paired-end sequencing 18438408 SLC2A3 chr1 28042537 28042833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8043106 8043437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 80433930 80434030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 80481267 80486481 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 8058917 8059061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8058965 8059051 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8061059 8061719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 80628614 80633173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OTOGL chr12 80629565 80649278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OTOGL chr12 80661801 80670400 Deletion Glioma mate-paired sequence 20126413 OTOGL chr12 80663847 80668450 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OTOGL chr12 80673655 80673750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTOGL chr12 80700000 80740600 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 OTOGL chr12 80708611 80735390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OTOGL chr1 28071642 28085783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM76A chr1 28071642 28085783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM76A chr12 80739576 80749490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OTOGL chr12 8076626 8099384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC2A3 chr12 8076626 8099384 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A3 chr12 8076626 8099384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A3 chr12 8078259 8078341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC2A3 chr12 80828543 82120457 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSS3,LIN7A,MIR4699,MIR617,MIR618,MYF5,MYF6,PPFIA2,PTPRQ chr12 80829576 80829676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 80863556 80863656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRQ chr12 80866958 80867058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRQ chr1 28090637 28113844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STX12 chr1 28090637 28113844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STX12 chr12 80993649 81105061 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MYF6,PTPRQ chr12 80996399 80996499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRQ chr12 8102186 8110222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8102186 8110222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8102186 8110222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 28106395 28106766 Gain and loss Pancreatic cancer SNP array 17952125 STX12 chr12 81107770 81107823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 81116135 81116559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 8112120 8112663 Loss Normal 244K array 17666407 NOT_FOUND chr12 81183126 81183220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 81188970 81189035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28120387 28120695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STX12 chr12 81249088 81254640 Gain and loss Pancreatic cancer SNP array 17952125 LIN7A chr12 81254792 81375406 Gain and loss Pancreatic cancer SNP array 17952125 LIN7A,MIR618 chr12 81255386 81255485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIN7A chr12 81260506 81260620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN7A chr12 8126105 8141616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8126105 8141616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8126105 8141625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8126150 8141634 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 81271061 81276309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN7A chr12 81276454 81397076 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LIN7A,MIR618 chr12 81276455 81397069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIN7A,MIR618 chr12 81276455 81397069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN7A,MIR618 chr1 28129101 28135200 Deletion Glioma mate-paired sequence 20126413 STX12 chr12 81310410 81320128 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LIN7A chr12 81315126 81315220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIN7A chr12 81315221 81315321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIN7A chr12 81318375 81318475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIN7A chr1 28134091 28158249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R8,STX12 chr1 28134091 28158249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R8,STX12 chr12 81362913 81363013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 81389890 81389983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 81391584 83778079 Deletion Normal Arbitrated Peel-off 21527027 ACSS3,CCDC59,METTL25,MIR4699,PPFIA2,TMTC2 chr12 81424612 84977686 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACSS3,CCDC59,METTL25,MIR4699,PPFIA2,TMTC2 chr12 81433282 81433382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8145825 8145912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 81468254 81468354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 81486845 81486945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACSS3 chr12 8149104 8479014 Copy number Lung cancer paired-end sequencing 18438408 C3AR1,CLEC4A,FAM66C,FAM86FP,FAM90A1,FOXJ2,NECAP1,POU5F1P3,ZNF705A chr12 81518465 81518725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACSS3 chr1 28153390 28153494 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 81554832 81622652 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ACSS3 chr12 81570000 105060000 Loss Acute lymphoblastic leukemia - 21339820 ACSS3,ACTR6,ALX1,AMDHD1,ANKS1B,ANO4,APAF1,ARL1,ASCL1,ATP2B1,BTG1,C12orf29,C12orf42,C12orf50,C12orf73,C12orf74,CCDC38,CCDC41,CCDC53,CCDC59,CCER1,CDK17,CEP290,CHPT1,CHST11,CLLU1,CLLU1OS,CRADD,DCN,DEPDC4,DRAM1,DUSP6,EEA1,EID3,ELK3,EPYC,FAM71C,FGD6,GALNT4,GAS2L3,GLT8D2,GNN,GNPTAB,GOLGA2P5,HAL,HCFC2,HSP90B1,IGF1,IKBIP,KERA,KITLG,KRT19P2,LINC00485,LINC00615,LOC144486,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LRRIQ1,LTA4H,LUM,METAP2,METTL25,MGAT4C,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3922,MIR4303,MIR492,MIR548AL,MIR5700,MKRN9P,MRPL42,MYBPC1,NDUFA12,NEDD1,NFYB,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUDT4,NUDT4P1,NUP37,PAH,PARPBP,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,PPFIA2,RASSF9,RMST,SCYL2,SLC17A8,SLC25A3,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,STAB2,SYCP3,TDG,TMCC3,TMPO,TMPO-AS1,TMTC2,TMTC3,TSPAN19,TXNRD1,UBE2N,UHRF1BP1L,USP44,UTP20,VEZT chr12 81583402 82030531 Gain and loss Pancreatic cancer SNP array 17952125 ACSS3,PPFIA2 chr1 28159091 28167191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R8,SCARNA1 chr1 28159091 28167191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R8,SCARNA1 chr1 28160006 28187333 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R8,SCARNA1 chr12 81603513 81860089 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACSS3,PPFIA2 chr12 81605065 82052194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSS3,PPFIA2 chr12 81605065 82052194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS3,PPFIA2 chr12 81635471 84451401 LOH Normal High-resolution SNP genotyping 21211785 ACSS3,CCDC59,METTL25,PPFIA2,TMTC2 chr12 8167493 8182470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8167493 8182470 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8167493 8182470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8167813 8310601 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C3AR1,CLEC4A,FOXJ2,NECAP1,POU5F1P3 chr12 8167813 8310601 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C3AR1,CLEC4A,FOXJ2,NECAP1,POU5F1P3 chr12 8167813 8399960 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C3AR1,CLEC4A,FAM66C,FAM86FP,FAM90A1,FOXJ2,NECAP1,POU5F1P3,ZNF705A chr12 8167813 8399960 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C3AR1,CLEC4A,FAM66C,FAM86FP,FAM90A1,FOXJ2,NECAP1,POU5F1P3,ZNF705A chr12 8167813 8515254 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C3AR1,CLEC4A,FAM66C,FAM86FP,FAM90A1,FOXJ2,LOC389634,NECAP1,POU5F1P3,ZNF705A chr12 8167826 8223909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3AR1,FOXJ2 chr12 8167826 8223909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3AR1,FOXJ2 chr1 28169445 28287702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R8,RPA2,SMPDL3B,THEMIS2,XKR8 chr1 28169445 28287702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R8,RPA2,SMPDL3B,THEMIS2,XKR8 chr12 81734461 81734556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIA2 chr12 81739512 81882550 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 PPFIA2 chr12 81748330 81748430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIA2 chr1 28176354 28194108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP1R8 chr12 81766030 81767904 Gain Normal Birdsuite, version 1.5.2 22087296 PPFIA2 chr12 8178154 8178714 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8178154 8178714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2818446 16703524 Copy number Lung cancer paired-end sequencing 18438408 AADACL3,AADACL4,ACOT7,ACTRT2,AGMAT,AGTRAP,AJAP1,ANGPTL7,APITD1,APITD1-CORT,ARHGEF16,ARHGEF19,C1orf126,C1orf127,C1orf158,C1orf174,C1orf200,C1orf64,CA6,CAMTA1,CASP9,CASZ1,CCDC27,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,EFHD2,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,EXOSC10,FAM131C,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,FLJ42875,GPR153,GPR157,H6PD,HES2,HES3,HNRNPCL1,HSPB7,ICMT,KAZN,KCNAB2,KIAA2013,KIF1B,KLHL21,LOC100133612,LOC284661,LOC440563,LOC649330,LOC728716,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIIP,MIR34A,MIR4251,MIR4252,MIR4417,MIR4632,MIR4689,MIR551A,MTHFR,MTOR,MTOR-AS1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,PARK7,PDPN,PER3,PEX14,PGD,PHF13,PIK3CD,PLEKHG5,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PTCHD2,RBP7,RERE,RNF207,RPL22,RSC1A1,RSG1,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPEN,SPSB1,SRM,SZRD1,TARDBP,TAS1R1,THAP3,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,UBE4B,UBIAD1,UQCRHL,UTS2,VAMP3,VPS13D,WRAP73,ZBTB17,ZBTB48 chr1 28189234 28189622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 81918137 81918237 Gain and loss Pancreatic cancer SNP array 17952125 PPFIA2 chr12 81922185 81922234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIA2 chr12 81925986 81926076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIA2 chr12 81939800 81939900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIA2 chr12 8195835 8491491 Substitutions and indels small cell lung cancer array-CGH 20016488 C3AR1,CLEC4A,FAM66C,FAM86FP,FAM90A1,FOXJ2,NECAP1,POU5F1P3,ZNF705A chr12 81960890 81960949 Gain and loss Pancreatic cancer SNP array 17952125 PPFIA2 chr12 81982553 81982612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIA2 chr12 82000000 100000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 ALX1,AMDHD1,ANKS1B,APAF1,ATP2B1,BTG1,C12orf29,C12orf50,C12orf74,CCDC38,CCDC41,CCDC59,CCER1,CDK17,CEP290,CLLU1,CLLU1OS,CRADD,DCN,DUSP6,EEA1,ELK3,EPYC,FGD6,GALNT4,HAL,IKBIP,KERA,KITLG,KRT19P2,LINC00615,LOC144486,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LRRIQ1,LTA4H,LUM,METAP2,METTL25,MGAT4C,MIR1251,MIR135A2,MIR331,MIR3685,MIR4303,MIR492,MIR548AL,MIR5700,MKRN9P,MRPL42,NDUFA12,NEDD1,NR2C1,NTN4,NTS,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,POC1B,POC1B-GALNT4,PPFIA2,RASSF9,RMST,SLC25A3,SLC6A15,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,TMCC3,TMPO,TMPO-AS1,TMTC2,TMTC3,TSPAN19,UBE2N,USP44,VEZT chr1 28200543 28200642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THEMIS2 chr12 82027233 82091386 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 PPFIA2 chr1 28204355 28204447 Gain and loss Pancreatic cancer SNP array 17952125 THEMIS2 chr12 82047578 82048437 Gain and loss Pancreatic cancer SNP array 17952125 PPFIA2 chr12 82049845 82049945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIA2 chr12 82069241 82070100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPFIA2 chr12 82074533 82074683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIA2 chr1 28211212 28243681 Gain and loss Pancreatic cancer SNP array 17952125 RPA2,THEMIS2 chr1 28211371 28211517 Gain and loss Pancreatic cancer SNP array 17952125 THEMIS2 chr12 82118363 82135209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPFIA2 chr12 82147645 82147770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIA2 chr1 2821501 2875500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 8216417 8223909 Gain and loss Pancreatic cancer SNP array 17952125 C3AR1 chr12 8216519 8303424 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C3AR1,CLEC4A,NECAP1,POU5F1P3 chr12 82226219 82226319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 82259598 82259682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28230982 28231278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPA2 chr1 28230984 28231278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPA2 chr12 8235228 8488059 Duplication Normal Affymetrix 6.0 microarrays 20967226 CLEC4A,FAM66C,FAM86FP,FAM90A1,NECAP1,POU5F1P3,ZNF705A chr12 82366201 82370700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 82368176 82368739 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 82374838 82374938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8238073 8303330 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CLEC4A,NECAP1,POU5F1P3 chr12 82393747 82393847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 82401045 82728855 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 82401045 82728855 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 82409062 82441122 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 82411549 82444831 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 28246753 28248751 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 82483349 82483664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 8248774 8379976 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CLEC4A,FAM66C,FAM90A1,NECAP1,POU5F1P3,ZNF705A chr12 8248774 8493621 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CLEC4A,FAM66C,FAM86FP,FAM90A1,NECAP1,POU5F1P3,ZNF705A chr12 8254378 8263752 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 82557918 82976258 Copy number Normal Birdsuite, version 1.5.2 22087296 CCDC59,METTL25 chr12 82566401 82566713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 8262587 8475927 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CLEC4A,FAM66C,FAM86FP,FAM90A1,POU5F1P3,ZNF705A chr12 8265133 8268695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8265133 8271481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8265133 8271481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 82669309 120958351 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACACB,ACAD10,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATXN2,BRAP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf45,C12orf49,C12orf50,C12orf52,C12orf73,C12orf74,C12orf75,C12orf76,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC59,CCDC60,CCDC63,CCDC64,CCER1,CDK17,CEP290,CHPT1,CHST11,CIT,CKAP4,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CUX2,DAO,DCN,DDX54,DEPDC4,DRAM1,DTX1,DUSP6,DYNLL1,EEA1,EID3,ELK3,EPYC,ERP29,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FOXN4,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,HAL,HCFC2,HECTD4,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IQCD,ISCU,KCTD10,KERA,KIAA1033,KITLG,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LINC00615,LOC100131138,LOC100287944,LOC100505978,LOC100506668,LOC144486,LOC144742,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LOC728739,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,METTL25,MGAT4C,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3922,MIR4303,MIR4472-2,MIR4497,MIR4498,MIR492,MIR548AL,MIR5700,MIR620,MKRN9P,MMAB,MRPL42,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,PAH,PARPBP,PEBP1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,PPP1CC,PPTC7,PRDM4,PRKAB1,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RASAL1,RASSF9,RBM19,RFC5,RFX4,RIC8B,RMST,RNFT2,RPH3A,RPL6,RPLP0,SART3,SCYL2,SDS,SDSL,SELPLG,SH2B3,SIRT4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,SRRM4,SRSF9,SSH1,STAB2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TDG,TESC,TMCC3,TMEM116,TMEM119,TMEM233,TMPO,TMPO-AS1,TMTC2,TMTC3,TPCN1,TRAFD1,TRIAP1,TRPV4,TSPAN19,TXNRD1,UBE2N,UBE3B,UHRF1BP1L,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VSIG10,WSB2,WSCD2 chr12 82687421 82689372 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 82687421 82689372 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 28270148 28293141 Gain and loss Pancreatic cancer SNP array 17952125 SMPDL3B,XKR8 chr12 8271166 8481044 Copy number Lung cancer paired-end sequencing 18438408 CLEC4A,FAM66C,FAM86FP,FAM90A1,POU5F1P3,ZNF705A chr12 82751261 82751361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC59 chr12 8275193 8275293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8276370 8286807 Gain and loss Pancreatic cancer SNP array 17952125 CLEC4A,POU5F1P3 chr1 2827695 2827762 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 82873877 82875555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 28294840 28295295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 28294840 28295295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8298602 8298702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 83005055 83005155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 83008616 83008931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 8302001 8450000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM66C,FAM86FP,FAM90A1,ZNF705A chr12 83042031 83042131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 83067993 83122757 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMTC2 chr12 83068662 83122757 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMTC2 chr12 83071362 83122757 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMTC2 chr12 8308139 8308220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28308837 28309396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr12 83095670 83098913 Loss or gain Normal 244K array 17666407 TMTC2 chr12 83101234 83101358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMTC2 chr12 83106540 83106597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMTC2 chr12 83117240 83120142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMTC2 chr12 83134673 83134773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC2 chr12 83178979 83179064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC2 chr12 83192473 84153372 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TMTC2 chr1 28319545 28320419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr12 8319690 8475927 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM66C,FAM86FP,FAM90A1,ZNF705A chr1 28322973 28323045 Gain and loss Pancreatic cancer SNP array 17952125 EYA3 chr12 83237406 83241893 Loss Normal Birdsuite, version 1.5.2 22087296 TMTC2 chr12 83265804 83265851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC2 chr12 83279501 83280500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMTC2 chr12 83280501 83500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMTC2 chr1 28329349 29019861 LOH Normal High-resolution SNP genotyping 21211785 ATPIF1,DNAJC8,EYA3,GMEB1,MED18,PHACTR4,PTAFR,RAB42,RCC1,RNU11,SESN2,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,TAF12,TRNAU1AP chr12 83307122 83307208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC2 chr12 83326428 83762542 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TMTC2 chr12 83379743 83379893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC2 chr1 28339691 28346612 Gain and loss Pancreatic cancer SNP array 17952125 EYA3 chr1 28340368 28855415 LOH Normal High-resolution SNP genotyping 21211785 ATPIF1,DNAJC8,EYA3,MED18,PHACTR4,PTAFR,RCC1,SESN2,SNHG3 chr1 28341835 28341939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr12 83436793 83436893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC2 chr1 28345364 29019861 LOH Normal High-resolution SNP genotyping 21211785 ATPIF1,DNAJC8,EYA3,GMEB1,MED18,PHACTR4,PTAFR,RAB42,RCC1,RNU11,SESN2,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,TAF12,TRNAU1AP chr1 28347775 28379652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EYA3 chr12 83481980 84683356 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 TMTC2 chr1 28348451 28392971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr1 28348451 28392971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr12 83497490 83497590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC2 chr12 83500501 83710000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMTC2 chr1 2835021 2835108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28356864 28366637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EYA3 chr1 28362096 28370342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EYA3 chr1 28362533 28377397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EYA3 chr12 8368194 8368294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 83703419 83730330 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 83703419 83761112 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 83703717 83730330 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 28370650 28562758 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 ATPIF1,DNAJC8,EYA3,PTAFR chr12 83710001 83830000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 83713700 83713800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 83726485 86407090 LOH Normal High-resolution SNP genotyping 21211785 ALX1,LRRIQ1,MGAT4C,NTS,RASSF9,SLC6A15,TSPAN19 chr12 83733778 83761977 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 83733778 83769313 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 83738953 83761977 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 83756898 83809042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 83777402 83830705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 83777402 83830705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 83790124 83790273 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 83790214 83790273 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 83810908 83811001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 83811783 83811936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 83830001 83831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 83831001 87201000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALX1,LRRIQ1,MGAT4C,MIR548AL,NTS,RASSF9,SLC6A15,TSPAN19 chr12 83849127 83849227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 83850933 83850992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 83857516 83891888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 28391945 28422774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EYA3 chr1 28392629 28393024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr12 83932567 84021104 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 83954230 84163012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 83954230 84163012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 28399376 28432129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr1 28399376 28432129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr1 28399600 28399739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA3 chr12 84028918 84029018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8403222 8403685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 84071791 84071952 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 8407724 8475927 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 84085996 84086106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 84097500 132289534 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 AACS,ABCB9,ACACB,ACAD10,ACADS,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MGAT4C,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR492,MIR5188,MIR548AL,MIR5700,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MORN3,MPHOSPH9,MRPL42,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TMTC3,TPCN1,TRAFD1,TRIAP1,TRPV4,TSPAN19,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 84097500 132289534 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AACS,ABCB9,ACACB,ACAD10,ACADS,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ALX1,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP2B1,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf29,C12orf42,C12orf43,C12orf45,C12orf49,C12orf50,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CDK17,CDK2AP1,CEP290,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DUSP6,DYNLL1,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GALNT4,GAS2L3,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KERA,KIAA1033,KITLG,KNTC1,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144486,LOC144742,LOC256021,LOC338758,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728084,LOC728739,LRRC43,LRRIQ1,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MGAT4C,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR492,MIR5188,MIR548AL,MIR5700,MIR620,MKRN9P,MLEC,MLXIP,MMAB,MORN3,MPHOSPH9,MRPL42,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NTS,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POC1B,POC1B-GALNT4,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RASSF9,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC6A15,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TMTC3,TPCN1,TRAFD1,TRIAP1,TRPV4,TSPAN19,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 8410549 8410694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8411811 8466278 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 8411811 8472396 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 8411811 8475927 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 84139054 84139133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8414189 8472396 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 8414414 8486161 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 84176353 84198027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 84198165 84219686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 84198165 84219686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8420229 8434734 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8420647 8475927 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 8420647 8495044 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 8422543 8472396 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 84274233 86159947 LOH Normal High-resolution SNP genotyping 21211785 ALX1,LRRIQ1,SLC6A15,TSPAN19 chr12 8427867 8475927 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 8427879 8475939 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 84296850 84665764 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr12 8430753 8437729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 84332531 84332631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8433944 8492328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 28435198 28437196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 28435198 28437196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8436404 8492280 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 28437053 28444819 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 8438114 8492453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 84391268 84391368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 84395860 84440590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 8440949 8491839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 8441162 8494223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 8442228 8494779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 84464124 84464488 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8447948 8475927 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 8447949 8450919 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 8447960 8486798 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 8448532 8483138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 84485787 84486151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8449294 8483293 Loss Normal TaqMan assays 20972442 NOT_FOUND chr12 8449743 8569921 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC389634 chr12 8449753 8459493 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 8449755 8475939 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 8449755 8475939 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 8450001 8475750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 8450201 8500800 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 8450700 8451054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 84519381 84615646 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr12 84552620 85594351 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRRIQ1,SLC6A15,TSPAN19 chr12 84582276 84608796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 28458593 28481586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTAFR chr1 28458593 28481586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTAFR chr12 8458856 8459503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 84660130 84660230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 84661251 85687571 LOH Normal High-resolution SNP genotyping 21211785 ALX1,LRRIQ1,SLC6A15,TSPAN19 chr12 84665764 90142718 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALX1,ATP2B1,C12orf29,C12orf50,CEP290,DUSP6,GALNT4,KITLG,LOC338758,LOC728084,LRRIQ1,MGAT4C,MIR548AL,MKRN9P,NTS,POC1B,POC1B-GALNT4,RASSF9,SLC6A15,TMTC3,TSPAN19 chr12 84700755 84700845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 84700948 84702210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 28470961 28471061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8471534 8482198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 84717341 84717435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 84722611 84723873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 84722611 84723873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 84734666 84734766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 84751157 85404573 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SLC6A15 chr12 8475751 9524250 Copy number Normal ReadDepth: A Parallel R Package 21305028 A2M,A2M-AS1,A2ML1,A2MP1,AICDA,CLEC4D,CLEC4E,CLEC6A,KLRG1,LINC00612,LOC100499405,LOC389634,LOC642846,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,PHC1,PZP,RIMKLB chr12 84762181 84764530 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 84770543 84779231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 84792204 84800894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 84792204 84800894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 84792205 84800896 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr12 84845962 84879917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 84874984 84945983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 84896487 84967646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 84896487 84967646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 84902290 84949919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 84933580 84933680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 84950225 84957967 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 84950235 84957046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 84955103 84955203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8497431 9435915 Substitutions and indels small cell lung cancer array-CGH 20016488 A2M,A2M-AS1,A2ML1,A2MP1,AICDA,CLEC4D,CLEC4E,CLEC6A,KLRG1,LINC00612,LOC100499405,LOC389634,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,PHC1,PZP,RIMKLB chr12 84977219 84977301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 84977686 85372472 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 SLC6A15 chr12 8499858 8522193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC389634 chr12 8499858 8522193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC389634 chr12 8502044 8563364 Copy number Lung cancer paired-end sequencing 18438408 LOC389634 chr12 85021019 85021119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8504318 9434898 Copy number Lung cancer paired-end sequencing 18438408 A2M,A2M-AS1,A2ML1,A2MP1,AICDA,CLEC4D,CLEC4E,CLEC6A,KLRG1,LINC00612,LOC100499405,LOC389634,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,PHC1,PZP,RIMKLB chr12 85047447 85047766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 85072329 85674601 Amplification Cancer Affymetrix 250K Sty array 20164920 ALX1,LRRIQ1,SLC6A15,TSPAN19 chr12 85074847 85120355 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85088640 85088720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 85100000 87500000 Copy number Normal - 21701786 ALX1,LRRIQ1,MGAT4C,MIR548AL,NTS,RASSF9,SLC6A15,TSPAN19 chr1 28511418 28511490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTAFR chr12 85129840 85157857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85150119 85173592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85151406 85179179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85151945 85158627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85152266 85167323 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85164483 85164515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8516846 8517156 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC389634 chr12 85186226 85226152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85194203 85224091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85219570 85227402 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 85219570 85227402 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr12 85219826 85227184 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 28522476 29527685 LOH Normal High-resolution SNP genotyping 21211785 ATPIF1,DNAJC8,EPB41,GMEB1,MECR,MED18,OPRD1,PHACTR4,RAB42,RCC1,RNU11,SESN2,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,SRSF4,TAF12,TMEM200B,TRNAU1AP,YTHDF2 chr12 85225213 85236932 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 8522913 8536827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC389634 chr12 85263488 85263588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A15 chr1 28528136 28535062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC8 chr1 28528136 28535062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC8 chr12 8528609 8528710 Gain and loss Pancreatic cancer SNP array 17952125 LOC389634 chr12 8528609 8528715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC389634 chr12 8528609 8528731 Gain and loss Pancreatic cancer SNP array 17952125 LOC389634 chr12 85351006 85384248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85406436 85406536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8545707 27480226 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,AEBP2,AICDA,APOLD1,ARHGDIB,ART4,ASUN,ATF7IP,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf60,C12orf69,C12orf71,C12orf77,CAPZA3,CASC1,CD69,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC4D,CLEC4E,CLEC6A,CLEC7A,CLEC9A,CLECL1,CMAS,CREBL2,CSDA,DDX12P,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,FGFR1OP2,GABARAPL1,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LDHB,LINC00477,LINC00612,LMO3,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC338817,LOC374443,LOC642846,LOH12CR1,LOH12CR2,LRMP,LRP6,LYRM5,M6PR,MAGOHB,MANSC1,MED21,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR4302,MIR613,MIR614,MIR920,OLR1,PDE3A,PDE6H,PHC1,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,PYROXD1,PZP,RASSF8,RECQL,RERG,RERGL,RIMKLB,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TM7SF3,TMEM52B,WBP11 chr1 28556595 28556660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJC8 chr12 8557403 8566225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8557403 8566225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8557403 8566225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 85593602 86762511 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALX1,LRRIQ1,MGAT4C,NTS,RASSF9 chr12 85598746 85598846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRIQ1 chr12 85663237 85665754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85668712 85668812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 85682441 85682502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ALX1 chr1 28568680 28699468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED18,PHACTR4,SESN2 chr1 28568680 28699468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED18,PHACTR4,SESN2 chr12 85710860 89151138 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 C12orf29,C12orf50,CEP290,KITLG,MGAT4C,MIR548AL,MKRN9P,NTS,RASSF9,TMTC3 chr12 85714154 86843576 LOH Normal High-resolution SNP genotyping 21211785 MGAT4C,NTS,RASSF9 chr12 85728483 86139645 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr12 85728826 85729728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 85732211 85732322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 85737238 85767301 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85744220 86762511 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MGAT4C,NTS,RASSF9 chr12 85744363 85744448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8577168 8584811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8577168 8584825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8577168 8584825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8578711 8700878 Copy number Lung cancer paired-end sequencing 18438408 CLEC4D,CLEC4E,CLEC6A chr12 85797658 85797743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 85797887 85798208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 85867151 85867251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 85884778 85929974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 85934557 85951825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 86055044 86057392 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 86098630 86098730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28611015 28611087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28621653 28621753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8628025 8628125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC6A chr12 86323283 86323453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 86323515 86323612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8636339 8636446 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8636339 8636447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8641372 8641501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 8646029 8656706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8646029 8656706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 86471493 86498027 Gain Normal Birdsuite, version 1.5.2 22087296 MGAT4C chr12 8648147 8650880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 86502634 86639183 Gain Normal Birdsuite, version 1.5.2 22087296 MGAT4C chr12 86506426 86506458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGAT4C chr1 28652618 28653031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 28653184 28686118 Gain and loss Pancreatic cancer SNP array 17952125 MED18 chr1 28654493 28654699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 28654494 28654699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 28655686 28655890 Gain and loss Pancreatic cancer SNP array 17952125 MED18 chr1 28655687 28655890 Gain and loss Pancreatic cancer SNP array 17952125 MED18 chr1 28664604 28664702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 86653355 86653540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGAT4C chr12 866621 876024 Copy number Autism exome sequencing 22495311 WNK1 chr12 86664573 86668034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MGAT4C chr12 86679585 86680669 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4C chr12 86701026 86701127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr12 86701356 86702467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr12 86762766 87863842 LOH Normal High-resolution SNP genotyping 21211785 MGAT4C,MIR548AL chr12 8679305 8681428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 28680461 28680579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 86843576 88166362 LOH Normal High-resolution SNP genotyping 21211785 MGAT4C,MIR548AL chr12 8686952 8687052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC4E chr12 86870140 86895113 Loss Normal Birdsuite, version 1.5.2 22087296 MGAT4C chr12 86876284 86925644 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4C chr12 86882565 87788565 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 MGAT4C,MIR548AL chr12 86897097 87974328 LOH Normal High-resolution SNP genotyping 21211785 MGAT4C,MIR548AL chr12 86897947 86947307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C,MIR548AL chr12 86897947 86947307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C,MIR548AL chr12 8689807 8706700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC4E chr12 8689807 8706700 Gain and loss Pancreatic cancer SNP array 17952125 CLEC4E chr12 8689807 8706700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC4E chr12 8689944 10025942 Deletion Myelodysplastic syndrome - 21251322 A2M,A2M-AS1,A2ML1,A2MP1,AICDA,CD69,CLEC2B,CLEC2D,CLEC4E,CLECL1,DDX12P,KLRB1,KLRF1,KLRG1,LINC00612,LOC100499405,LOC374443,LOC642846,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,PHC1,PZP,RIMKLB chr12 86904228 86904287 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 MGAT4C chr12 86931736 86946404 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4C chr1 2869431 2902617 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr12 86945262 87000433 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4C,MIR548AL chr12 86947939 86948029 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4C chr1 28695171 28722952 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr12 86953399 86968067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr12 86953399 86968067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr12 8695839 10980792 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 A2M,A2M-AS1,A2ML1,A2MP1,AICDA,CD69,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CSDA,DDX12P,GABARAPL1,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LINC00612,LOC100499405,LOC374443,LOC642846,M6PR,MAGOHB,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PHC1,PZP,RIMKLB,STYK1,TAS2R10,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 8695839 10980792 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 A2M,A2M-AS1,A2ML1,A2MP1,AICDA,CD69,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CSDA,DDX12P,GABARAPL1,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LINC00612,LOC100499405,LOC374443,LOC642846,M6PR,MAGOHB,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PHC1,PZP,RIMKLB,STYK1,TAS2R10,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 86966922 87060124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr12 86966922 87060124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr12 86969602 86969692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr12 86984507 86984578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGAT4C chr1 28700221 28725666 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr12 87014718 87037552 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4C chr12 87030076 87074961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MGAT4C chr12 87038569 87093927 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4C chr1 28705083 28738194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28705083 28738194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr12 87060218 87116936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr12 87060218 87116936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4C chr1 28706465 28706670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr12 87076009 87733383 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 MGAT4C chr1 28707658 28707861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28712361 28712615 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr12 8716506 9492001 Copy number Lung cancer paired-end sequencing 18438408 A2M,A2M-AS1,A2ML1,A2MP1,AICDA,KLRG1,LINC00612,LOC100499405,LOC642846,M6PR,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,PHC1,PZP,RIMKLB chr1 28716575 28716673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr12 87184335 89769388 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 C12orf29,C12orf50,CEP290,DUSP6,KITLG,LOC728084,MGAT4C,MKRN9P,TMTC3 chr12 87201001 99829500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMDHD1,ANKS1B,APAF1,ATP2B1,BTG1,C12orf29,C12orf50,C12orf74,CCDC38,CCDC41,CCER1,CDK17,CEP290,CLLU1,CLLU1OS,CRADD,DCN,DUSP6,EEA1,ELK3,EPYC,FGD6,GALNT4,HAL,IKBIP,KERA,KITLG,KRT19P2,LINC00615,LOC144486,LOC256021,LOC338758,LOC643339,LOC643770,LOC728084,LTA4H,LUM,METAP2,MGAT4C,MIR1251,MIR135A2,MIR331,MIR3685,MIR4303,MIR492,MIR5700,MKRN9P,MRPL42,NDUFA12,NEDD1,NR2C1,NTN4,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,POC1B,POC1B-GALNT4,RMST,SLC25A3,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,TMCC3,TMPO,TMPO-AS1,TMTC3,UBE2N,USP44,VEZT chr1 28725422 28726328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28725676 28730111 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr1 28726892 28727021 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr1 28727509 28727640 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr1 28728048 28728180 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr12 8730000 13260000 Gain Breast cancer aCGH 21509527 A2M,A2M-AS1,A2ML1,A2MP1,AICDA,APOLD1,BCL2L14,CD69,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CREBL2,CSDA,DDX12P,DDX47,DUSP16,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GSG1,HEBP1,HTR7P1,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LINC00612,LOC100499405,LOC100506314,LOC338817,LOC374443,LOC642846,LOH12CR1,LOH12CR2,LRP6,M6PR,MAGOHB,MANSC1,MFAP5,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,OLR1,PHC1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PZP,RIMKLB,RNU6-19,RPL13AP20,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 8731695 8731795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 87326687 87326793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 87326688 87326792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 87329762 87329912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 87348350 87348458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 87393065 87476713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 28739328 28741702 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr12 87410697 87498369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 87410697 87498369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 8741900 8821533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AICDA,MFAP5 chr12 8742667 30482233 Deletion Acute myeloid leukemia - 21251322 A2M,A2M-AS1,A2ML1,A2MP1,ABCC9,AEBP2,AICDA,APOLD1,ARHGDIB,ARNTL2,ART4,ASUN,ATF7IP,BCAT1,BCL2L14,BHLHE41,C12orf36,C12orf39,C12orf60,C12orf69,C12orf70,C12orf71,C12orf77,CAPZA3,CASC1,CCDC91,CD69,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CMAS,CREBL2,CSDA,DDX12P,DDX47,DERA,DUSP16,EMP1,EPS8,ERGIC2,ERP27,ETNK1,ETV6,FAR2,FGFR1OP2,GABARAPL1,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,IFLTD1,ITPR2,KCNJ8,KIAA0528,KIAA1467,KLHDC5,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,KRAS,LDHB,LINC00477,LINC00612,LMO3,LOC100499405,LOC100506314,LOC100506393,LOC100506451,LOC101055625,LOC338817,LOC374443,LOC642846,LOH12CR1,LOH12CR2,LRMP,LRP6,LYRM5,M6PR,MAGOHB,MANSC1,MANSC4,MED21,MFAP5,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR4302,MIR613,MIR614,MIR920,MRPS35,OLR1,OVCH1,PDE3A,PDE6H,PHC1,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PPFIBP1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTHLH,PTPRO,PYROXD1,PZP,RASSF8,RECQL,REP15,RERG,RERGL,RIMKLB,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,SOX5,SSPN,ST8SIA1,STK38L,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TM7SF3,TMEM52B,TMTC1,WBP11 chr12 8743709 8826948 Gain and loss Pancreatic cancer SNP array 17952125 AICDA,MFAP5 chr12 87438205 87444541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 28745256 28751297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr12 87456166 87935313 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 87456166 88286630 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MKRN9P chr12 87477861 87478040 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 87477930 87478041 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 87485844 87586557 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr12 87500000 91200000 Amplification Urothelial cell carcinoma FISH 18451213 ATP2B1,C12orf29,C12orf50,CEP290,DUSP6,GALNT4,KITLG,LOC338758,LOC728084,MKRN9P,POC1B,POC1B-GALNT4,TMTC3 chr12 87500000 91200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP2B1,C12orf29,C12orf50,CEP290,DUSP6,GALNT4,KITLG,LOC338758,LOC728084,MKRN9P,POC1B,POC1B-GALNT4,TMTC3 chr12 87500000 91200000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ATP2B1,C12orf29,C12orf50,CEP290,DUSP6,GALNT4,KITLG,LOC338758,LOC728084,MKRN9P,POC1B,POC1B-GALNT4,TMTC3 chr12 87500000 91200000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ATP2B1,C12orf29,C12orf50,CEP290,DUSP6,GALNT4,KITLG,LOC338758,LOC728084,MKRN9P,POC1B,POC1B-GALNT4,TMTC3 chr1 28750232 28790201 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr1 28752116 28777643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28752116 28777643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr12 87532750 88191903 LOH Normal High-resolution SNP genotyping 21211785 MKRN9P chr1 2875501 2892000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 8757731 8758731 Loss Osteosarcoma References 21215367 AICDA chr12 87616941 87621940 Loss Normal TaqMan assays 20972442 NOT_FOUND chr12 87618510 87633417 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr12 876285 876378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNK1 chr12 87762888 87762983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 28777637 28780971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28777848 28777921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr12 87784551 87784646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 28778863 28778992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28779480 28779611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28780019 28780153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr12 87805434 88092691 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 87850266 87850366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8785026 8790417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 87870630 87870823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 87870824 87871033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28791299 28793673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28791299 28793673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4 chr1 28795728 28795862 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4 chr12 87965349 87965449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 87967896 87968043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 87974735 87974835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28800000 35400000 Amplification Lung cancer aCGH 21911935 ADC,AK2,BAI2,BSDC1,C1orf212,C1orf94,CCDC28B,COL16A1,CSMD2,DCDC2B,DLGAP3,EIF3I,EPB41,FABP3,FAM167B,FNDC5,GJA4,GJB3,GJB4,GJB5,GMEB1,HCRTR1,HDAC1,HMGB4,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LAPTM5,LCK,LOC100128071,LOC149086,LOC284551,LOC402779,MARCKSL1,MATN1,MATN1-AS1,MECR,MIR3605,MIR4254,MIR4420,MTMR9LP,NKAIN1,OPRD1,PEF1,PHACTR4,PHC2,PTP4A2,PTPRU,PUM1,RAB42,RBBP4,RCC1,RNF19B,RNU11,S100PBP,SDC3,SERINC2,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPOCD1,SRSF4,SYNC,TAF12,TINAGL1,TMEM200B,TMEM234,TMEM39B,TMEM54,TRIM62,TRNAU1AP,TSSK3,TXLNA,YARS,YTHDF2,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZNF362,ZSCAN20 chr1 28802200 28842172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4,RCC1,SNHG3 chr1 28802200 28842172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR4,RCC1,SNHG3 chr12 88060058 88060143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88076026 88120714 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 88079564 88079664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88087983 88088053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88105341 88105441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28810774 28820198 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PHACTR4 chr12 88135956 88136337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 28815860 28862001 Gain and loss Pancreatic cancer SNP array 17952125 PHACTR4,RCC1,SNHG3 chr12 88178468 88178531 Gain and loss Pancreatic cancer SNP array 17952125 MKRN9P chr12 88242573 88265783 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 88244307 88248764 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 88265967 88270427 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 88265967 88270427 Gain or loss Cancer - 20668451 NOT_FOUND chr12 88265967 88270427 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 88265967 88270427 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 88265967 88270427 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 88265967 88270427 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 88265967 88270427 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 88265970 88270427 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 88265970 88270427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 88265970 88270427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 88266718 88266818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88277284 88277406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88277441 88277632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88315973 88422245 Gain and loss Pancreatic cancer SNP array 17952125 C12orf50 chr12 88337636 88462692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf29,C12orf50,CEP290 chr12 88337636 88462692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf29,C12orf50,CEP290 chr12 88337987 88338165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88338162 88338414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28836793 28836922 Gain and loss Pancreatic cancer SNP array 17952125 RCC1,SNHG3 chr12 8837314 8845626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 88389347 88389447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf50 chr12 88397948 88399181 Gain and loss Pancreatic cancer SNP array 17952125 C12orf50 chr12 88403419 88403451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C12orf50 chr12 88461568 89725850 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP290,KITLG,LOC728084,TMTC3 chr12 88466521 88536878 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CEP290,TMTC3 chr1 28847699 28847832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCC1 chr12 8847883 8848883 Gain Osteosarcoma References 21215367 NOT_FOUND chr12 88484296 88552312 Gain and loss Pancreatic cancer SNP array 17952125 CEP290,TMTC3 chr12 88505959 88573975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP290,TMTC3 chr12 88505959 88573975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP290,TMTC3 chr12 88593801 88613900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr12 88623179 88623267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 88640694 88640753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88644842 88644930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 88657329 88657361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8866417 8920646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMKLB chr12 8866417 8920646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMKLB chr12 8866441 8920646 Gain and loss Pancreatic cancer SNP array 17952125 RIMKLB chr1 28867831 28918452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNHG12,SNORA16A,SNORA44,SNORA61,SNORD99,TRNAU1AP chr1 28867831 28918452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNHG12,SNORA16A,SNORA44,SNORA61,SNORD99,TRNAU1AP chr12 88755017 88755105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 88783936 88812154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 28884099 28916902 Gain and loss Pancreatic cancer SNP array 17952125 SNHG12,SNORA16A,SNORA44,SNORA61,SNORD99,TRNAU1AP chr12 88842590 92088164 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP2B1,CCER1,DCN,DUSP6,EPYC,GALNT4,KERA,KITLG,LINC00615,LOC338758,LOC728084,LUM,POC1B,POC1B-GALNT4 chr1 28888764 28888893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRNAU1AP chr12 88984118 88999243 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 89000000 92600000 Copy number Acute coronary syndrome PCR 18259693 ATP2B1,BTG1,CCER1,DCN,DUSP6,EPYC,GALNT4,KERA,LINC00615,LOC256021,LOC338758,LOC728084,LUM,POC1B,POC1B-GALNT4 chr12 89006963 89017687 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 89007466 89017829 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 89007470 89017687 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 89011002 89015921 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 89011002 89015921 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr12 89011704 89016192 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 8906201 8911200 Deletion Glioma mate-paired sequence 20126413 RIMKLB chr12 8908082 8909482 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 RIMKLB chr12 8908107 8909134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RIMKLB chr12 8908348 8909373 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 RIMKLB chr12 89120822 89120922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 891504 969480 Gain and loss Pancreatic cancer SNP array 17952125 WNK1 chr12 891516 929124 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WNK1 chr12 891516 929124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNK1 chr12 891516 929124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNK1 chr12 89172077 89172177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 89172122 89172202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 89188673 89189815 Loss Normal 244K array 17666407 NOT_FOUND chr1 2892001 2907500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 8920842 9524322 LOH Normal High-resolution SNP genotyping 21211785 A2M,A2M-AS1,A2ML1,A2MP1,KLRG1,LINC00612,LOC100499405,LOC642846,M6PR,MIR1244-1,MIR1244-2,MIR1244-3,PHC1,PZP,RIMKLB chr12 8931247 8931347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 89320049 89320149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 28935723 28968874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF12 chr1 28935723 28968874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF12 chr12 89370504 89370707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 89381492 89422262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC728084 chr12 894001 971500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WNK1 chr12 89414468 89423317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 89495970 89498747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 89557592 89557679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 89561944 89562044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 89581096 89581169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 8958582 8985327 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 A2ML1 chr12 8958583 8985325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 A2ML1 chr12 8958583 8985325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A2ML1 chr12 89586404 89620272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 28959270 29010824 Gain and loss Pancreatic cancer SNP array 17952125 GMEB1,RNU11,TAF12 chr12 8959623 8985325 Gain and loss Pancreatic cancer SNP array 17952125 A2ML1 chr12 89641581 89641681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 89754059 89768041 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 89765967 89771270 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr12 89769606 89802900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 89789518 89789610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 89800802 90776286 LOH Normal High-resolution SNP genotyping 21211785 ATP2B1,GALNT4,LOC338758,POC1B,POC1B-GALNT4 chr12 89834902 89844914 Gain and loss Pancreatic cancer SNP array 17952125 POC1B chr12 8984231 8993519 Gain and loss Pancreatic cancer SNP array 17952125 A2ML1 chr12 8984243 8993519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 A2ML1 chr12 8984243 8993519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A2ML1 chr12 89849767 89850987 Gain and loss Pancreatic cancer SNP array 17952125 POC1B chr12 89856564 89866577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POC1B chr12 89856564 89866577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POC1B chr12 89859934 89901275 Gain and loss Pancreatic cancer SNP array 17952125 POC1B chr12 89866440 90484944 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP2B1,GALNT4,LOC338758,POC1B,POC1B-GALNT4 chr12 89871430 89872650 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 POC1B chr12 89871430 89872650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POC1B chr12 89881591 89922934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GALNT4,POC1B,POC1B-GALNT4 chr12 89881591 89922934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT4,POC1B,POC1B-GALNT4 chr12 89881591 89922934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT4,POC1B,POC1B-GALNT4 chr12 89898474 90011617 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ATP2B1,GALNT4,POC1B,POC1B-GALNT4 chr12 899134 899942 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WNK1 chr12 89942675 89960920 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr12 89946739 89954599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 89952101 89969023 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 89968407 89976262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 89968407 89976262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 89968407 89976262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 89999801 90007762 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B1 chr1 29000000 31400000 Deletion Schizophrenia - 22118685 EPB41,GMEB1,LAPTM5,MATN1,MATN1-AS1,MECR,MIR4420,OPRD1,PTPRU,SDC3,SRSF4,TMEM200B,YTHDF2 chr1 2900000 120700000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100133612,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 2900000 120700000 Gain Multiple myeloma CGH, FISH 16461302 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100133612,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 2900000 120700000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100133612,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr12 90000072 90000172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B1 chr12 90021363 90029673 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP2B1 chr12 90021363 90029673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2B1 chr12 90021363 90029673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2B1 chr12 90025018 90025118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B1 chr12 90041504 90079274 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B1 chr12 9004781 9032804 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 A2ML1 chr12 90063167 90100937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 90063167 90100937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9010016 9293796 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 A2M,A2M-AS1,A2ML1,KLRG1,LINC00612,M6PR,PHC1 chr12 90101510 90147172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC338758 chr1 29011241 29062795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GMEB1 chr1 29011241 29062795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GMEB1 chr1 2901397 2901710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 90142718 91164326 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr12 90182510 90184008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 90245582 90245682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 90260560 90293769 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 29028855 29028962 Gain and loss Pancreatic cancer SNP array 17952125 GMEB1 chr1 29028856 29028963 Gain and loss Pancreatic cancer SNP array 17952125 GMEB1 chr12 9033484 9054601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9033488 9054605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9033488 9054605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 29034244 29267574 Gain and loss Pancreatic cancer SNP array 17952125 EPB41,GMEB1,OPRD1,YTHDF2 chr12 90375288 90375388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 90382267 90382367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 90446771 90446840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 90460000 90860000 Gain Breast cancer aCGH 21509527 NOT_FOUND chr12 90517337 90517437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 90631856 90632156 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 90644766 90644844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 90647769 90647862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 90649382 90813144 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr12 90665337 90699353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 90671883 91035857 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr12 90700000 95510000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 BTG1,C12orf74,CCDC41,CCER1,CLLU1,CLLU1OS,CRADD,DCN,EEA1,EPYC,FGD6,KERA,KRT19P2,LINC00615,LOC144486,LOC256021,LOC643339,LUM,MIR492,MIR5700,MRPL42,NDUFA12,NR2C1,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,SOCS2,SOCS2-AS1,TMCC3,UBE2N chr12 9071390 9072952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHC1 chr1 2907501 2911500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 90784636 91053257 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr12 90786000 91039000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr12 90791979 90792332 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 9080210 9081104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHC1 chr12 9080249 9081173 Gain and loss Pancreatic cancer SNP array 17952125 PHC1 chr12 90804330 90804430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29080825 29080934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YTHDF2 chr1 29086215 29319545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41,OPRD1,YTHDF2 chr1 29086215 29319545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41,OPRD1,YTHDF2 chr1 2908892 2909226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 9096297 10805364 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A2M,A2M-AS1,A2MP1,CD69,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,DDX12P,GABARAPL1,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRG1,KLRK1,LINC00612,LOC100499405,LOC374443,LOC642846,M6PR,MAGOHB,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PZP,STYK1,TMEM52B chr12 9096693 9160020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLRG1,M6PR chr12 9096693 9160020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLRG1,M6PR chr12 90994429 91935819 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCER1,DCN,EPYC,KERA,LINC00615,LUM chr12 9099453 9159776 Gain and loss Pancreatic cancer SNP array 17952125 KLRG1,M6PR chr12 9101401 9108939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 M6PR chr12 91021755 91022049 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 91036115 91036215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91039367 91042088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 91039370 91042088 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr12 91061030 91063751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91061030 91063751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91061033 91063751 Deletion Acute lymphoblastic leukemia 250k Sty and Nsp SNP arrays 19129520 NOT_FOUND chr12 91061033 91063751 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 91061033 91063751 Gain or loss Cancer - 20668451 NOT_FOUND chr12 91061033 91063751 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 91061033 91063751 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 91061033 91063751 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 91061033 91063751 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 91061033 91063751 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 91066599 91066697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 91066600 91066697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9106692 9106792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91088260 91088360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91113926 91114010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91141234 91158546 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 2911501 2920000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 91161059 91171445 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 91164326 94456174 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BTG1,C12orf74,CCER1,CLLU1,CLLU1OS,CRADD,DCN,EEA1,EPYC,KERA,LINC00615,LOC256021,LOC643339,LUM,MRPL42,NUDT4,NUDT4P1,PLEKHG7,SOCS2,SOCS2-AS1,UBE2N chr12 91200000 107500000 Loss Hepatocellular carcinoma Array CGH 16750200 ACTR6,ALDH1L2,AMDHD1,ANKS1B,ANO4,APAF1,APPL2,ARL1,ASCL1,BTG1,C12orf23,C12orf42,C12orf45,C12orf73,C12orf74,C12orf75,CCDC38,CCDC41,CCDC53,CCER1,CDK17,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CRADD,CRY1,DCN,DEPDC4,DRAM1,EEA1,EID3,ELK3,EPYC,FAM71C,FGD6,GAS2L3,GLT8D2,GNN,GNPTAB,GOLGA2P5,HAL,HCFC2,HSP90B1,IGF1,IKBIP,KERA,KIAA1033,KRT19P2,LINC00485,LINC00615,LOC100287944,LOC100505978,LOC144486,LOC256021,LOC643339,LOC643770,LTA4H,LUM,METAP2,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3922,MIR4303,MIR492,MIR5700,MRPL42,MTERFD3,MYBPC1,NDUFA12,NEDD1,NFYB,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUDT4,NUDT4P1,NUP37,PAH,PARPBP,PLEKHG7,PLXNC1,PMCH,POLR3B,RFX4,RIC8B,RMST,SCYL2,SLC17A8,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,STAB2,SYCP3,TCP11L2,TDG,TMCC3,TMPO,TMPO-AS1,TXNRD1,UBE2N,UHRF1BP1L,USP44,UTP20,VEZT chr12 91200000 119100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACACB,ACAD10,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,AMDHD1,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARPC3,ASCL1,ASCL4,ATP2A2,ATXN2,BRAP,BTBD11,BTG1,C12orf23,C12orf42,C12orf45,C12orf49,C12orf52,C12orf73,C12orf74,C12orf75,C12orf76,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC63,CCER1,CDK17,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CMKLR1,CORO1C,CRADD,CRY1,CUX2,DAO,DCN,DDX54,DEPDC4,DRAM1,DTX1,EEA1,EID3,ELK3,EPYC,ERP29,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FOXN4,GAS2L3,GIT2,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,HAL,HCFC2,HECTD4,HRK,HSP90B1,HVCN1,IFT81,IGF1,IKBIP,IQCD,ISCU,KCTD10,KERA,KIAA1033,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LINC00615,LOC100131138,LOC100287944,LOC100505978,LOC144486,LOC256021,LOC643339,LOC643770,LOC728739,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3922,MIR4303,MIR4472-2,MIR4497,MIR492,MIR5700,MIR620,MMAB,MRPL42,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,PAH,PARPBP,PEBP1,PLBD2,PLEKHG7,PLXNC1,PMCH,POLR3B,PPP1CC,PPTC7,PRDM4,PTPN11,PWP1,RAD9B,RASAL1,RBM19,RFC5,RFX4,RIC8B,RMST,RNFT2,RPH3A,RPL6,SART3,SCYL2,SDS,SDSL,SELPLG,SH2B3,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,SSH1,STAB2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TDG,TESC,TMCC3,TMEM116,TMEM119,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRPV4,TXNRD1,UBE2N,UBE3B,UHRF1BP1L,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VSIG10,WSB2,WSCD2 chr12 91200000 132349534 Gain Breast cancer - 16397240 AACS,ABCB9,ACACB,ACAD10,ACADS,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf42,C12orf43,C12orf45,C12orf49,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CCER1,CDK17,CDK2AP1,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DYNLL1,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GAS2L3,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KERA,KIAA1033,KNTC1,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LINC00507,LINC00615,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144486,LOC144742,LOC256021,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728739,LRRC43,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR492,MIR5188,MIR5700,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRIAP1,TRPV4,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 91200000 94800000 Amplification Urothelial cell carcinoma FISH 18451213 BTG1,C12orf74,CCDC41,CCER1,CLLU1,CLLU1OS,CRADD,DCN,EEA1,EPYC,KERA,LINC00615,LOC256021,LOC643339,LUM,MRPL42,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,SOCS2,SOCS2-AS1,UBE2N chr12 91200000 94800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BTG1,C12orf74,CCDC41,CCER1,CLLU1,CLLU1OS,CRADD,DCN,EEA1,EPYC,KERA,LINC00615,LOC256021,LOC643339,LUM,MRPL42,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,SOCS2,SOCS2-AS1,UBE2N chr12 91200000 94800000 Gain Barrett's adenocarcinoma FISH 18663352 BTG1,C12orf74,CCDC41,CCER1,CLLU1,CLLU1OS,CRADD,DCN,EEA1,EPYC,KERA,LINC00615,LOC256021,LOC643339,LUM,MRPL42,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,SOCS2,SOCS2-AS1,UBE2N chr12 91200000 94800000 Loss Myxofibrosarcoma Array CGH 16751306 BTG1,C12orf74,CCDC41,CCER1,CLLU1,CLLU1OS,CRADD,DCN,EEA1,EPYC,KERA,LINC00615,LOC256021,LOC643339,LUM,MRPL42,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,SOCS2,SOCS2-AS1,UBE2N chr12 91307701 93913600 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTG1,C12orf74,CCER1,CLLU1,CLLU1OS,DCN,EEA1,EPYC,KERA,LINC00615,LOC256021,LOC643339,LUM,MRPL42,NUDT4,NUDT4P1,PLEKHG7,UBE2N chr1 29132838 29132936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 91338001 91346053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCER1,LINC00615 chr12 91338001 91346053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCER1,LINC00615 chr12 91341866 91348861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCER1,LINC00615 chr12 91341866 91348861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCER1,LINC00615 chr12 91345777 91391276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCER1,EPYC chr12 91351250 92705835 LOH Normal High-resolution SNP genotyping 21211785 BTG1,DCN,EPYC,KERA,LOC256021,LUM chr12 9135215 9209152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLRG1,LINC00612 chr12 91387427 132349534 Loss Wilms tumour 250K Genotyping Arrays 21544195 AACS,ABCB9,ACACB,ACAD10,ACADS,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,BTG1,C12orf23,C12orf42,C12orf43,C12orf45,C12orf49,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK17,CDK2AP1,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CUX2,DAO,DCN,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DYNLL1,EEA1,EID3,EIF2B1,ELK3,EPYC,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GAS2L3,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KERA,KIAA1033,KNTC1,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144486,LOC144742,LOC256021,LOC338799,LOC387895,LOC400084,LOC440117,LOC643339,LOC643770,LOC728739,LRRC43,LTA4H,LUM,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR492,MIR5188,MIR5700,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MRPL42,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRIAP1,TRPV4,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 91393551 91497540 Copy number loss Normal High-resolution SNP genotyping 21211785 EPYC,KERA,LUM chr12 91400777 91400877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91440468 91440568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91442337 91442450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91443229 91443379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91445240 91445340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KERA chr12 91454991 91455056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 91499617 91499717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUM chr1 29154418 29949616 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 EPB41,MECR,OPRD1,PTPRU,SRSF4,TMEM200B chr1 29155527 30043083 Substitutions and indels small cell lung cancer array-CGH 20016488 EPB41,MECR,OPRD1,PTPRU,SRSF4,TMEM200B chr12 91567891 91567991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCN chr12 91620970 91626196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91632779 91668336 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 91654442 91689999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91654442 91689999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91668755 91800902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 91673245 91673335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91676963 91677063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29168077 29212721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPRD1 chr12 91690417 91847238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91690417 91847238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9170865 9193062 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 9171734 9171848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91728068 91767322 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 91734689 91735212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 91811293 91811393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29181383 29181709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPRD1 chr12 91842032 91842193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91842088 91842188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29184809 29184909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPRD1 chr12 91848883 91848986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 91848884 91848986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 91860454 91893125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 91870546 91870652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91917850 91917954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 91917850 91917955 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9192704 9252233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 A2M,A2M-AS1,LINC00612 chr12 9192704 9252233 Gain and loss Pancreatic cancer SNP array 17952125 A2M,A2M-AS1,LINC00612 chr12 9192704 9252233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A2M,A2M-AS1,LINC00612 chr12 91939513 91939619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 91971724 91971804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 91979842 91979919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 2920001 2929500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 92015158 92015251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92017696 92017846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 92028425 92029511 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 92042163 92042263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 92082800 92082890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 92120000 93470000 Gain Breast cancer aCGH 21509527 BTG1,C12orf74,CLLU1,CLLU1OS,EEA1,LOC256021,LOC643339,PLEKHG7 chr12 92120520 92153051 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 9214391 12764686 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 A2M,A2M-AS1,A2MP1,BCL2L14,CD69,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CSDA,DDX12P,DUSP16,ETV6,GABARAPL1,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRK1,LINC00612,LOC100499405,LOC338817,LOC374443,LOC642846,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PZP,RNU6-19,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 92161875 92161976 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92162261 92162340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92183538 92183639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92183924 92184003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92195398 92195494 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92217061 92217157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92222697 92222797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 92246554 92291296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 92246863 92246957 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92252170 92252248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 92268526 92268620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92274170 92302519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92295832 92321155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92295832 92321155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92304558 92338494 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92318151 92362846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 92326218 92360157 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 92326218 92360157 Gain or loss Cancer - 20668451 NOT_FOUND chr12 92326218 92360157 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 92326218 92360157 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 92326218 92360157 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 92326218 92360157 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 92326221 92360157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92326221 92360157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92356971 92357070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92356972 92357070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92363738 92398899 Gain and loss Pancreatic cancer SNP array 17952125 LOC256021 chr12 92378632 92378733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92385401 92420568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC256021 chr12 92385401 92420568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC256021 chr12 92404102 92414242 Gain and loss Pancreatic cancer SNP array 17952125 LOC256021 chr12 92405731 92406013 Gain and loss Pancreatic cancer SNP array 17952125 LOC256021 chr12 92415601 92415666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC256021 chr12 92418935 92419810 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 LOC256021 chr12 92425013 92559510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTG1,LOC256021 chr12 92425765 92435905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC256021 chr12 92427394 92427674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC256021 chr12 92427394 92427676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC256021 chr12 92429514 92461713 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC256021 chr12 92441411 92441511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC256021 chr12 92459436 92459536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC256021 chr12 9246020 9246120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 A2M chr12 92466066 92472446 Gain and loss Pancreatic cancer SNP array 17952125 LOC256021 chr12 92487728 92494109 Copy number Lung cancer - 20668451 LOC256021 chr12 92487728 92494109 Gain or loss Breast cancer - 20668451 LOC256021 chr12 92487728 92494109 Gain or loss Cancer - 20668451 LOC256021 chr12 92487728 92494109 Gain or loss Lung cancer - 20668451 LOC256021 chr12 92487728 92494109 Gain or loss Ovarian cancer - 20668451 LOC256021 chr12 92487728 92494109 Gain or loss Pancreas cancer - 20668451 LOC256021 chr12 92487728 92494109 Gain or loss Prostate cancer - 20668451 LOC256021 chr12 92487729 92494109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC256021 chr12 92487729 92494109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC256021 chr12 92492729 92492804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC256021 chr12 92514238 92514338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC256021 chr12 92537066 92537830 Gain and loss Pancreatic cancer SNP array 17952125 BTG1 chr12 92546797 92578824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 92573622 92746992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92595281 92768662 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr12 92595282 92768658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92595282 92768658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92600000 109000000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ACTR6,ALDH1L2,AMDHD1,ANKS1B,ANO4,APAF1,APPL2,ARL1,ASCL1,ASCL4,BTBD11,C12orf23,C12orf42,C12orf45,C12orf73,C12orf74,C12orf75,CCDC38,CCDC41,CCDC53,CDK17,CHPT1,CHST11,CKAP4,CLLU1,CLLU1OS,CMKLR1,CRADD,CRY1,DEPDC4,DRAM1,EEA1,EID3,ELK3,FAM71C,FGD6,FICD,GAS2L3,GLT8D2,GNN,GNPTAB,GOLGA2P5,HAL,HCFC2,HSP90B1,IGF1,IKBIP,ISCU,KIAA1033,KRT19P2,LINC00485,LOC100287944,LOC100505978,LOC144486,LOC643339,LOC643770,LOC728739,LTA4H,METAP2,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3922,MIR4303,MIR492,MIR5700,MRPL42,MTERFD3,MYBPC1,NDUFA12,NEDD1,NFYB,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUDT4,NUDT4P1,NUP37,PAH,PARPBP,PLEKHG7,PLXNC1,PMCH,POLR3B,PRDM4,PWP1,RFX4,RIC8B,RMST,SART3,SCYL2,SLC17A8,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,STAB2,SYCP3,TCP11L2,TDG,TMCC3,TMEM119,TMPO,TMPO-AS1,TXNRD1,UBE2N,UHRF1BP1L,USP44,UTP20,VEZT,WSCD2 chr12 92600000 120700000 Deletion Sudden cardiac death CGH 19188705 ACACB,ACAD10,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,AMDHD1,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARPC3,ASCL1,ASCL4,ATP2A2,ATXN2,BRAP,BTBD11,C12orf23,C12orf42,C12orf45,C12orf49,C12orf52,C12orf73,C12orf74,C12orf75,C12orf76,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC60,CCDC63,CCDC64,CDK17,CHPT1,CHST11,CIT,CKAP4,CLLU1,CLLU1OS,CMKLR1,CORO1C,CRADD,CRY1,CUX2,DAO,DDX54,DEPDC4,DRAM1,DTX1,EEA1,EID3,ELK3,ERP29,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FOXN4,GAS2L3,GCN1L1,GIT2,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,HAL,HCFC2,HECTD4,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IQCD,ISCU,KCTD10,KIAA1033,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LOC100131138,LOC100287944,LOC100505978,LOC144486,LOC144742,LOC643339,LOC643770,LOC728739,LTA4H,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3922,MIR4303,MIR4472-2,MIR4497,MIR4498,MIR492,MIR5700,MIR620,MMAB,MRPL42,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,PAH,PARPBP,PEBP1,PLBD2,PLEKHG7,PLXNC1,PMCH,POLR3B,PPP1CC,PPTC7,PRDM4,PRKAB1,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RASAL1,RBM19,RFC5,RFX4,RIC8B,RMST,RNFT2,RPH3A,RPL6,RPLP0,SART3,SCYL2,SDS,SDSL,SELPLG,SH2B3,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,SRRM4,SSH1,STAB2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TDG,TESC,TMCC3,TMEM116,TMEM119,TMEM233,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRPV4,TXNRD1,UBE2N,UBE3B,UHRF1BP1L,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VSIG10,WSB2,WSCD2 chr12 92600000 120700000 Loss Breast cancer Microarray-based CGH 17133270 ACACB,ACAD10,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,AMDHD1,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARPC3,ASCL1,ASCL4,ATP2A2,ATXN2,BRAP,BTBD11,C12orf23,C12orf42,C12orf45,C12orf49,C12orf52,C12orf73,C12orf74,C12orf75,C12orf76,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC60,CCDC63,CCDC64,CDK17,CHPT1,CHST11,CIT,CKAP4,CLLU1,CLLU1OS,CMKLR1,CORO1C,CRADD,CRY1,CUX2,DAO,DDX54,DEPDC4,DRAM1,DTX1,EEA1,EID3,ELK3,ERP29,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FOXN4,GAS2L3,GCN1L1,GIT2,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,HAL,HCFC2,HECTD4,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IQCD,ISCU,KCTD10,KIAA1033,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LOC100131138,LOC100287944,LOC100505978,LOC144486,LOC144742,LOC643339,LOC643770,LOC728739,LTA4H,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3922,MIR4303,MIR4472-2,MIR4497,MIR4498,MIR492,MIR5700,MIR620,MMAB,MRPL42,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,PAH,PARPBP,PEBP1,PLBD2,PLEKHG7,PLXNC1,PMCH,POLR3B,PPP1CC,PPTC7,PRDM4,PRKAB1,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RASAL1,RBM19,RFC5,RFX4,RIC8B,RMST,RNFT2,RPH3A,RPL6,RPLP0,SART3,SCYL2,SDS,SDSL,SELPLG,SH2B3,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRPF,SOCS2,SOCS2-AS1,SPIC,SRRM4,SSH1,STAB2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TDG,TESC,TMCC3,TMEM116,TMEM119,TMEM233,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRPV4,TXNRD1,UBE2N,UBE3B,UHRF1BP1L,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VSIG10,WSB2,WSCD2 chr12 92600000 126833945 Loss Breast cancer Microarray-based CGH 17133270 AACS,ABCB9,ACACB,ACAD10,ACADS,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf23,C12orf42,C12orf43,C12orf45,C12orf49,C12orf52,C12orf65,C12orf73,C12orf74,C12orf75,C12orf76,CABP1,CAMKK2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK17,CDK2AP1,CHPT1,CHST11,CIT,CKAP4,CLIP1,CLLU1,CLLU1OS,CMKLR1,COQ5,CORO1C,COX6A1,CRADD,CRY1,CUX2,DAO,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DYNLL1,EEA1,EID3,EIF2B1,ELK3,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FOXN4,GAS2L3,GATC,GCN1L1,GIT2,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KIAA1033,KNTC1,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LOC100131138,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC144486,LOC144742,LOC338799,LOC400084,LOC643339,LOC643770,LOC728739,LRRC43,LTA4H,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR492,MIR5188,MIR5700,MIR620,MLEC,MLXIP,MMAB,MORN3,MPHOSPH9,MRPL42,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUDT4,NUDT4P1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PITPNM2,PLA2G1B,PLBD2,PLEKHG7,PLXNC1,PMCH,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SH2B3,SIRT4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SOCS2,SOCS2-AS1,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM233,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRIAP1,TRPV4,TXNRD1,UBC,UBE2N,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 92600000 96200000 Deletion Hepatocellular carcinoma Array CGH 16750200 C12orf74,CCDC41,CLLU1,CLLU1OS,CRADD,EEA1,FGD6,KRT19P2,LOC144486,LOC643339,METAP2,MIR331,MIR3685,MIR492,MIR5700,MRPL42,NDUFA12,NR2C1,NTN4,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,SOCS2,SOCS2-AS1,TMCC3,UBE2N,USP44,VEZT chr12 92600000 96200000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 C12orf74,CCDC41,CLLU1,CLLU1OS,CRADD,EEA1,FGD6,KRT19P2,LOC144486,LOC643339,METAP2,MIR331,MIR3685,MIR492,MIR5700,MRPL42,NDUFA12,NR2C1,NTN4,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,SOCS2,SOCS2-AS1,TMCC3,UBE2N,USP44,VEZT chr12 92602373 92602473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 92616130 93186878 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf74,CLLU1,CLLU1OS,EEA1,PLEKHG7 chr12 92625348 92670779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 9262862 9721935 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 A2M,A2MP1,DDX12P,LOC100499405,LOC642846,MIR1244-1,MIR1244-2,MIR1244-3,PZP chr12 92663057 92746083 Gain Stenocardia MACArray Karyo 64K BAC-chips 21860640 NOT_FOUND chr12 92663057 92746083 Gain Vasospasm MACArray Karyo 64K BAC-chips 21860640 NOT_FOUND chr1 29268033 29271023 Gain and loss Pancreatic cancer SNP array 17952125 EPB41 chr12 92721810 92725697 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 92727320 92727616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92748983 92749277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2927906 2929325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 2927906 2929325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2927906 2929325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92805600 92805689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 92836923 92837005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 9283880 9284194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92856426 92856506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 92863592 92866317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 92882460 92882771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 92905065 92905291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 92926646 92926954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92926728 92926954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 92931654 92931729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 9293796 11109988 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 A2MP1,CD69,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CSDA,DDX12P,GABARAPL1,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRK1,LOC100499405,LOC374443,LOC642846,MAGOHB,MIR1244-1,MIR1244-2,MIR1244-3,OLR1,PRH1,PRH1-PRR4,PRH2,PRR4,PZP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr1 29294981 29328977 Gain and loss Pancreatic cancer SNP array 17952125 EPB41 chr1 2929501 2933500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 92956260 92989845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 9297763 9297913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 93007337 93468826 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C12orf74,EEA1,LOC643339,PLEKHG7 chr12 93036366 93037328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 93044967 93201693 Gain and loss Pancreatic cancer SNP array 17952125 C12orf74,EEA1,PLEKHG7 chr12 93066630 93223356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C12orf74,EEA1,PLEKHG7 chr12 93066630 93223356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C12orf74,EEA1,PLEKHG7 chr12 93102707 93128873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 29318526 29323008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41 chr1 29318526 29323008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41 chr12 93193464 93193786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EEA1 chr1 29319501 29331500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPB41 chr12 93204526 93356188 Gain and loss Pancreatic cancer SNP array 17952125 EEA1 chr12 93226189 93377895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEA1 chr12 93226189 93377895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEA1 chr12 93257467 93257770 Gain and loss Pancreatic cancer SNP array 17952125 EEA1 chr12 9327902 9377342 Gain Normal Birdsuite, version 1.5.2 22087296 PZP chr12 93279127 93279431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEA1 chr12 93279130 93279433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEA1 chr12 9330536 9330642 Gain and loss Pancreatic cancer SNP array 17952125 PZP chr12 9330536 9330660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PZP chr12 93310000 97560000 Amplification Breast cancer aCGH 21509527 AMDHD1,CCDC38,CCDC41,CDK17,CRADD,EEA1,ELK3,FGD6,HAL,KRT19P2,LOC144486,LOC643339,LTA4H,METAP2,MIR331,MIR3685,MIR492,MIR5700,MRPL42,NDUFA12,NEDD1,NR2C1,NTN4,NUDT4,NUDT4P1,PLXNC1,SNRPF,SOCS2,SOCS2-AS1,TMCC3,UBE2N,USP44,VEZT chr12 93319988 93321212 Gain and loss Pancreatic cancer SNP array 17952125 EEA1 chr12 9332069 9356997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PZP chr12 93341651 93342875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2933501 2937500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 9338346 9356847 Gain and loss Pancreatic cancer SNP array 17952125 PZP chr1 29340001 29378052 Gain and loss Pancreatic cancer SNP array 17952125 EPB41 chr12 93411720 93412004 Gain and loss Pancreatic cancer SNP array 17952125 LOC643339 chr12 93417334 93418118 Gain and loss Pancreatic cancer SNP array 17952125 LOC643339 chr12 93433383 93433663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr12 93433383 93433667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr12 93438997 93439778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr12 93444485 93445780 Gain and loss Pancreatic cancer SNP array 17952125 LOC643339 chr12 9344491 9344591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PZP chr12 93464521 93546792 Gain and loss Pancreatic cancer SNP array 17952125 LOC643339 chr12 93466148 93467443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr12 93466148 93467443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr1 29346952 29380948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41 chr1 29346952 29380948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41 chr12 93486184 93568455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr12 93486184 93568455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr12 93507208 93509060 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC643339 chr12 93558043 93558143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643339 chr12 93558888 93593215 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC643339 chr12 93629859 93629938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643339 chr12 9369048 9369236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 93691651 93691706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643339 chr12 9369222 9369402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 93730700 93730765 Gain and loss Pancreatic cancer SNP array 17952125 LOC643339 chr1 2937501 2945500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTRT2 chr12 93752123 93753023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr12 93752305 93752420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643339 chr12 93768156 93768578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC643339 chr12 93814759 93814859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2N chr1 29383644 29473927 Gain and loss Pancreatic cancer SNP array 17952125 EPB41,TMEM200B chr12 93867577 93899979 Gain and loss Pancreatic cancer SNP array 17952125 MRPL42 chr12 93868188 93868497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MRPL42 chr12 9387160 9438707 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100499405,LOC642846,MIR1244-1,MIR1244-2,MIR1244-3 chr12 93878676 93908286 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MRPL42 chr12 93889240 93921642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL42 chr12 93889240 93921642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL42 chr1 29389213 29416133 Deletion Breast cancer Illumina 1M duo array 20393555 EPB41 chr12 93918139 93969824 Gain and loss Pancreatic cancer SNP array 17952125 SOCS2,SOCS2-AS1 chr1 29391972 29430041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41 chr1 29391972 29430041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41 chr12 93939802 93991499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOCS2,SOCS2-AS1 chr12 93939802 93991499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOCS2,SOCS2-AS1 chr1 29395216 29395316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPB41 chr12 93976197 94113708 Gain and loss Pancreatic cancer SNP array 17952125 CRADD chr12 93994656 94135371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRADD chr12 93994656 94135371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRADD chr12 93996772 93997260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 94018420 94018923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94022004 94022631 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9405106 13848989 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 APOLD1,BCL2L14,C12orf36,CD69,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CREBL2,CSDA,DDX12P,DDX47,DUSP16,EMP1,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,HEBP1,HTR7P1,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRK1,LOC100506314,LOC338817,LOC374443,LOC642846,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MIR1244-1,MIR1244-2,MIR1244-3,MIR613,MIR614,OLR1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,RNU6-19,RPL13AP20,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 9411021 9412021 Loss Osteosarcoma References 21215367 NOT_FOUND chr12 94114032 94197414 Gain and loss Pancreatic cancer SNP array 17952125 CRADD chr12 94128421 95280908 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC41,CRADD,KRT19P2,LOC144486,MIR492,MIR5700,PLXNC1,TMCC3 chr12 94128421 96133233 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC41,CRADD,FGD6,KRT19P2,LOC144486,METAP2,MIR331,MIR3685,MIR492,MIR5700,NDUFA12,NR2C1,NTN4,PLXNC1,TMCC3,USP44,VEZT chr12 94135715 94219075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRADD chr12 94135715 94219075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRADD chr12 94150950 94151045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRADD chr12 94172014 94172113 Gain and loss Pancreatic cancer SNP array 17952125 CRADD chr12 94172014 94172114 Gain and loss Pancreatic cancer SNP array 17952125 CRADD chr12 94180890 94180925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRADD chr12 94186941 94187042 Gain and loss Pancreatic cancer SNP array 17952125 CRADD chr12 94193677 94193779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRADD chr12 94204664 94204757 Gain and loss Pancreatic cancer SNP array 17952125 CRADD chr12 94208599 94208706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRADD chr12 9421855 9421955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 94226327 94226420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRADD chr12 94251178 94251268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 94260183 94260283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 94272546 94272646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 94306707 94306804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 94334985 94335081 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 94334987 94335073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 29435001 29440500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPB41 chr12 9435502 9435602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29435634 29525900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41,MECR,SRSF4,TMEM200B chr1 29435634 29525900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41,MECR,SRSF4,TMEM200B chr12 94356644 94356744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9436901 9639300 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX12P,LOC642846 chr12 94370390 94410587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 94391953 94433746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94391953 94433746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 29440501 30518500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPB41,MECR,PTPRU,SRSF4,TMEM200B chr12 9440930 9446360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC642846 chr12 9440930 9446360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC642846 chr12 94414017 94447695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9441500 9444161 Gain and loss Pancreatic cancer SNP array 17952125 LOC642846 chr12 94430802 94430802 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr12 94435017 94469394 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 94435017 94469394 Gain or loss Cancer - 20668451 NOT_FOUND chr12 94435017 94469394 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 94435017 94469394 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 94435017 94469394 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 94435017 94469394 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 94435021 94469394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94435021 94469394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9445275 9518487 Substitutions and indels small cell lung cancer array-CGH 20016488 LOC642846 chr12 9447020 9448609 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC642846 chr12 94471851 94516986 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 94474319 94507781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 9447460 9448485 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC642846 chr12 9450363 9452488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC642846 chr12 9451354 9630395 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX12P,LOC642846 chr12 9451354 9721935 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX12P,LOC642846 chr12 9451354 9814796 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX12P,KLRB1,LOC374443,LOC642846 chr12 94513933 94514028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 29452641 29452782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94534159 94536658 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 94534584 94536542 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 94534625 94536464 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 94535596 94535693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 2945501 2966500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr12 94554052 94686855 Gain and loss Pancreatic cancer SNP array 17952125 PLXNC1 chr12 94561501 94592998 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLXNC1 chr12 94568549 94569312 Gain and loss Pancreatic cancer SNP array 17952125 PLXNC1 chr12 94575715 94708667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC41,PLXNC1 chr12 94575715 94708667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC41,PLXNC1 chr12 94590212 94590975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXNC1 chr12 94612735 94613035 Copy number Osteosarcoma References 21215367 PLXNC1 chr12 9461576 9492091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC642846 chr12 9461576 9492092 Amplification T-cell lymphomas Array-CGH 22341440 LOC642846 chr12 94616586 94617586 Loss Osteosarcoma References 21215367 PLXNC1 chr12 94671458 94671558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXNC1 chr12 94673592 94673692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXNC1 chr12 94678400 94678449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXNC1 chr12 94688775 94688877 Gain and loss Pancreatic cancer SNP array 17952125 PLXNC1 chr12 94688775 94688881 Gain and loss Pancreatic cancer SNP array 17952125 PLXNC1 chr12 94705537 102604940 Loss Prostate cancer Array CGH 18632612 ACTR6,AMDHD1,ANKS1B,ANO4,APAF1,ARL1,CCDC38,CCDC41,CCDC53,CDK17,CHPT1,DEPDC4,DRAM1,ELK3,FAM71C,FGD6,GAS2L3,GNPTAB,GOLGA2P5,HAL,IKBIP,KRT19P2,LOC144486,LOC643770,LTA4H,METAP2,MIR1251,MIR135A2,MIR1827,MIR331,MIR3685,MIR4303,MIR492,MIR5700,MYBPC1,NDUFA12,NEDD1,NR1H4,NR2C1,NTN4,NUP37,PARPBP,PMCH,RMST,SCYL2,SLC17A8,SLC25A3,SLC5A8,SLC9A7P1,SNORA53,SNRPF,SPIC,SYCP3,TMCC3,TMPO,TMPO-AS1,UHRF1BP1L,USP44,UTP20,VEZT chr12 94710438 94710540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC41 chr12 94734490 94734580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC41 chr12 94753643 94753743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC41 chr12 94755184 94762385 Gain and loss Pancreatic cancer SNP array 17952125 CCDC41 chr12 94755901 94761700 Deletion Glioma mate-paired sequence 20126413 CCDC41 chr12 94757713 94760458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC41 chr12 94763295 94838896 Gain and loss Pancreatic cancer SNP array 17952125 CCDC41 chr12 94776840 94784364 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC41 chr12 94776840 94784364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC41 chr12 94784958 94860559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC41,LOC144486 chr12 94784958 94860559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC41,LOC144486 chr12 9479768 9619821 Copy number Lung cancer paired-end sequencing 18438408 DDX12P chr12 94800000 100000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMDHD1,ANKS1B,APAF1,CCDC38,CCDC41,CDK17,ELK3,FGD6,HAL,IKBIP,KRT19P2,LOC144486,LOC643770,LTA4H,METAP2,MIR1251,MIR135A2,MIR331,MIR3685,MIR4303,MIR492,MIR5700,NDUFA12,NEDD1,NR2C1,NTN4,RMST,SLC25A3,SLC9A7P1,SNORA53,SNRPF,TMCC3,TMPO,TMPO-AS1,USP44,VEZT chr12 94800000 100000000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 AMDHD1,ANKS1B,APAF1,CCDC38,CCDC41,CDK17,ELK3,FGD6,HAL,IKBIP,KRT19P2,LOC144486,LOC643770,LTA4H,METAP2,MIR1251,MIR135A2,MIR331,MIR3685,MIR4303,MIR492,MIR5700,NDUFA12,NEDD1,NR2C1,NTN4,RMST,SLC25A3,SLC9A7P1,SNORA53,SNRPF,TMCC3,TMPO,TMPO-AS1,USP44,VEZT chr12 94800000 100000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMDHD1,ANKS1B,APAF1,CCDC38,CCDC41,CDK17,ELK3,FGD6,HAL,IKBIP,KRT19P2,LOC144486,LOC643770,LTA4H,METAP2,MIR1251,MIR135A2,MIR331,MIR3685,MIR4303,MIR492,MIR5700,NDUFA12,NEDD1,NR2C1,NTN4,RMST,SLC25A3,SLC9A7P1,SNORA53,SNRPF,TMCC3,TMPO,TMPO-AS1,USP44,VEZT chr12 94800000 100000000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 AMDHD1,ANKS1B,APAF1,CCDC38,CCDC41,CDK17,ELK3,FGD6,HAL,IKBIP,KRT19P2,LOC144486,LOC643770,LTA4H,METAP2,MIR1251,MIR135A2,MIR331,MIR3685,MIR4303,MIR492,MIR5700,NDUFA12,NEDD1,NR2C1,NTN4,RMST,SLC25A3,SLC9A7P1,SNORA53,SNRPF,TMCC3,TMPO,TMPO-AS1,USP44,VEZT chr12 94800000 107500000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 ACTR6,ALDH1L2,AMDHD1,ANKS1B,ANO4,APAF1,APPL2,ARL1,ASCL1,C12orf23,C12orf42,C12orf45,C12orf73,C12orf75,CCDC38,CCDC41,CCDC53,CDK17,CHPT1,CHST11,CKAP4,CRY1,DEPDC4,DRAM1,EID3,ELK3,FAM71C,FGD6,GAS2L3,GLT8D2,GNN,GNPTAB,GOLGA2P5,HAL,HCFC2,HSP90B1,IGF1,IKBIP,KIAA1033,KRT19P2,LINC00485,LOC100287944,LOC100505978,LOC144486,LOC643770,LTA4H,METAP2,MIR1251,MIR135A2,MIR1827,MIR331,MIR3652,MIR3685,MIR3922,MIR4303,MIR492,MIR5700,MTERFD3,MYBPC1,NDUFA12,NEDD1,NFYB,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUP37,PAH,PARPBP,PMCH,POLR3B,RFX4,RIC8B,RMST,SCYL2,SLC17A8,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRPF,SPIC,STAB2,SYCP3,TCP11L2,TDG,TMCC3,TMPO,TMPO-AS1,TXNRD1,UHRF1BP1L,USP44,UTP20,VEZT chr12 94800000 132349534 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AACS,ABCB9,ACACB,ACAD10,ACADS,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,AMDHD1,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf23,C12orf42,C12orf43,C12orf45,C12orf49,C12orf52,C12orf65,C12orf73,C12orf75,C12orf76,CABP1,CAMKK2,CCDC38,CCDC41,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK17,CDK2AP1,CHPT1,CHST11,CIT,CKAP4,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CRY1,CUX2,DAO,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DYNLL1,EID3,EIF2B1,ELK3,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FGD6,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GAS2L3,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HAL,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KIAA1033,KNTC1,KRT19P2,KSR2,LHX5,LINC00173,LINC00485,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144486,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC643770,LOC728739,LRRC43,LTA4H,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,METAP2,MIR1178,MIR1251,MIR135A2,MIR1827,MIR331,MIR3612,MIR3652,MIR3685,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR492,MIR5188,MIR5700,MIR620,MLEC,MLXIP,MMAB,MMP17,MORN3,MPHOSPH9,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NDUFA12,NEDD1,NFYB,NOS1,NR1H4,NR2C1,NT5DC3,NTN4,NUAK1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PMCH,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RMST,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRNP35,SNRPF,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMCC3,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRIAP1,TRPV4,TXNRD1,UBC,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,USP44,UTP20,VEZT,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 94811083 94845841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC41 chr12 94824487 94824587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC41 chr12 94830000 97210000 Gain Breast cancer aCGH 21509527 AMDHD1,CCDC38,CCDC41,CDK17,ELK3,FGD6,HAL,KRT19P2,LOC144486,LTA4H,METAP2,MIR331,MIR3685,MIR492,MIR5700,NDUFA12,NR2C1,NTN4,SNRPF,TMCC3,USP44,VEZT chr12 94839539 94864837 Gain and loss Pancreatic cancer SNP array 17952125 CCDC41,LOC144486 chr12 94861202 94886500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94861202 94886500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94864477 94867085 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 94867841 94867941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 94869610 94892539 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9488933 9489068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9488964 9489068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 94891273 94914202 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 94891273 94914202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94891273 94914202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94897079 94931833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 94910222 98145314 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AMDHD1,CCDC38,CDK17,ELK3,FGD6,HAL,KRT19P2,LTA4H,METAP2,MIR1251,MIR135A2,MIR331,MIR3685,MIR492,MIR5700,NDUFA12,NEDD1,NR2C1,NTN4,RMST,SNRPF,TMCC3,USP44,VEZT chr12 94918742 94953496 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 94918742 94953496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 94918742 94953496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9496442 9518039 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 94977290 94977390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMCC3 chr12 94986343 94986443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMCC3 chr12 94998197 94998495 Gain and loss Pancreatic cancer SNP array 17952125 TMCC3 chr12 9500570 9628488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DDX12P chr12 95011589 95011689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMCC3 chr12 95019862 95020158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCC3 chr12 95021907 95021982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMCC3 chr12 9502896 9637813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DDX12P chr12 95030223 95038342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMCC3 chr12 9503327 9628063 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DDX12P chr12 9503721 9627296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DDX12P chr12 9506798 9507114 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 95072790 95072854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 9507964 9631886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DDX12P chr12 95089777 95350380 Amplification Cancer Affymetrix 250K Sty array 20164920 KRT19P2,MIR492 chr12 95090675 95164076 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 95102923 95102977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 95112337 95185737 Gain or loss Breast cancer - 20668451 NOT_FOUND chr12 95112337 95185737 Gain or loss Cancer - 20668451 NOT_FOUND chr12 95112337 95185737 Gain or loss Lung cancer - 20668451 NOT_FOUND chr12 95112337 95185737 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr12 95112337 95185737 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr12 95112337 95185737 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr12 95112338 95185739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 95112338 95185739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9511376 9619559 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX12P chr12 9511376 9637045 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX12P chr12 95155478 95190185 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 95174508 95296691 Gain and loss Pancreatic cancer SNP array 17952125 KRT19P2,MIR492 chr12 9518039 9521823 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 9518494 9626223 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 DDX12P chr12 95196171 95318354 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KRT19P2,MIR492 chr12 95196171 95318354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT19P2,MIR492 chr12 95196171 95318354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT19P2,MIR492 chr12 95199617 95199759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 95199621 95199759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9521812 9626223 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 DDX12P chr12 9521823 9524644 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 95221284 95221422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9522567 9639761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DDX12P chr12 9524009 9619871 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DDX12P chr12 9524065 9604661 Loss or gain Normal 244K array 17666407 DDX12P chr12 9524251 9614000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX12P chr12 9524322 9603347 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX12P chr12 9524322 9603347 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX12P chr12 9524322 9612064 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DDX12P chr12 9524322 9612064 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX12P chr12 9524644 9524645 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 9524645 9606832 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DDX12P chr12 9524645 9619559 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DDX12P chr12 9525125 9598577 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDX12P chr12 9525125 9604929 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDX12P chr12 9525125 9604954 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 DDX12P chr12 9525137 9626237 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX12P chr12 95259700 95259800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 9527799 9621879 Substitutions and indels small cell lung cancer array-CGH 20016488 DDX12P chr12 9528390 9610254 Copy number Incontinentia Pigmenti Agilent SurePrint G11 one Million microarrays 22033527 DDX12P chr12 9528390 9610254 Deletion Oligozoospermia Array-CGH 20877625 DDX12P chr12 9528390 9610254 Deletion Sertoli-cell only syndrome Array-CGH 20877625 DDX12P chr12 9528390 9610254 Duplication Oligozoospermia Array-CGH 20877625 DDX12P chr12 9528390 9610254 Duplication Sertoli-cell only syndrome Array-CGH 20877625 DDX12P chr12 9528590 9610054 Deletion Cancer ultra-high resolution array CGH 21272361 DDX12P chr12 9529164 9551973 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 9529164 9604929 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX12P chr12 9529164 9604929 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDX12P chr12 9529164 9626225 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDX12P chr12 9529164 9626953 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDX12P chr12 9529164 9631601 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 DDX12P chr12 95323609 95323731 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 95345272 95345394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 95385357 95438768 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NDUFA12,NR2C1 chr12 95385853 95437213 Gain and loss Pancreatic cancer SNP array 17952125 NDUFA12,NR2C1 chr12 95407516 95458876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR2C1 chr12 9541754 9585188 Copy number Lung cancer paired-end sequencing 18438408 DDX12P chr12 95450296 95526343 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 FGD6,NR2C1 chr1 29550000 31390000 Loss Breast cancer aCGH 21509527 LAPTM5,MATN1,MATN1-AS1,MECR,MIR4420,PTPRU,SDC3 chr12 95501640 95501740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD6 chr12 95517083 95517128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD6 chr12 95544221 95661516 Gain and loss Pancreatic cancer SNP array 17952125 FGD6,VEZT chr12 95557930 95557962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD6 chr12 95565884 95683179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGD6,VEZT chr12 95565884 95683179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGD6,VEZT chr12 95604222 95604322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD6 chr12 95629192 95630192 Loss Osteosarcoma References 21215367 VEZT chr12 9563025 9598618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX12P chr12 95674271 95674371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VEZT chr12 95697775 95698999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 95703175 95703275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 95744009 95745411 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr12 9576365 9604929 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DDX12P chr12 95797349 95798944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 95803484 95849596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 95818609 95820607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 95825147 95871259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 METAP2 chr12 95825147 95871259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METAP2 chr12 95846038 97342433 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMDHD1,CCDC38,CDK17,ELK3,HAL,LTA4H,METAP2,NEDD1,NTN4,SNRPF,USP44 chr12 95875776 95875875 Gain and loss Pancreatic cancer SNP array 17952125 METAP2 chr12 95875777 95875875 Gain and loss Pancreatic cancer SNP array 17952125 METAP2 chr12 95884430 95914060 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 METAP2,USP44 chr12 95896387 95896702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 METAP2 chr12 95897437 95897538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METAP2 chr12 95909413 95910413 Loss Osteosarcoma References 21215367 METAP2 chr12 9598577 9631334 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDX12P chr12 95992558 96032070 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr12 96000 1461000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 B4GALNT3,CCDC77,ERC1,FAM138D,IQSEC3,KDM5A,LOC574538,NINJ2,RAD52,SLC6A12,SLC6A13,WNK1 chr12 96025165 96025236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 9606832 9619559 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 96070654 96102901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NTN4 chr12 96078859 96079186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTN4 chr12 96099537 96099603 Gain and loss Pancreatic cancer SNP array 17952125 NTN4 chr12 9611502 22833636 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABCC9,AEBP2,APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf39,C12orf60,C12orf69,CAPZA3,CD69,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CMAS,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETNK1,ETV6,GABARAPL1,GOLT1B,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,GYS2,H2AFJ,HEBP1,HIST4H4,HTR7P1,IAPP,KCNJ8,KIAA0528,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRK1,LDHB,LMO3,LOC100506314,LOC100506393,LOC338817,LOC374443,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,OLR1,PDE3A,PDE6H,PIK3C2G,PLBD1,PLCZ1,PLEKHA5,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,PYROXD1,RECQL,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7,SLCO1C1,ST8SIA1,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,WBP11 chr12 96121200 96121266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTN4 chr1 2961223 2962622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 96124562 96124662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTN4 chr12 9613297 9614287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 96135863 96136863 Loss Osteosarcoma References 21215367 NTN4 chr12 9614001 9844000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC2D,KLRB1,LOC374443 chr12 9614685 9620128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9614685 9620128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 96157768 96158768 Gain Osteosarcoma References 21215367 NTN4 chr12 9616894 9619558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 96188358 96219643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 96189675 96190086 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NOT_FOUND chr12 9619559 9622904 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 96200000 101600000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 ACTR6,AMDHD1,ANKS1B,ANO4,APAF1,CCDC38,CDK17,DEPDC4,ELK3,FAM71C,GAS2L3,GOLGA2P5,HAL,IKBIP,LOC643770,LTA4H,MIR1251,MIR135A2,MIR1827,MIR4303,NEDD1,NR1H4,RMST,SCYL2,SLC17A8,SLC25A3,SLC5A8,SLC9A7P1,SNORA53,SNRPF,TMPO,TMPO-AS1,UHRF1BP1L chr12 96200000 109000000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACTR6,ALDH1L2,AMDHD1,ANKS1B,ANO4,APAF1,APPL2,ARL1,ASCL1,ASCL4,BTBD11,C12orf23,C12orf42,C12orf45,C12orf73,C12orf75,CCDC38,CCDC53,CDK17,CHPT1,CHST11,CKAP4,CMKLR1,CRY1,DEPDC4,DRAM1,EID3,ELK3,FAM71C,FICD,GAS2L3,GLT8D2,GNN,GNPTAB,GOLGA2P5,HAL,HCFC2,HSP90B1,IGF1,IKBIP,ISCU,KIAA1033,LINC00485,LOC100287944,LOC100505978,LOC643770,LOC728739,LTA4H,MIR1251,MIR135A2,MIR1827,MIR3652,MIR3922,MIR4303,MTERFD3,MYBPC1,NEDD1,NFYB,NR1H4,NT5DC3,NUAK1,NUP37,PAH,PARPBP,PMCH,POLR3B,PRDM4,PWP1,RFX4,RIC8B,RMST,SART3,SCYL2,SLC17A8,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRPF,SPIC,STAB2,SYCP3,TCP11L2,TDG,TMEM119,TMPO,TMPO-AS1,TXNRD1,UHRF1BP1L,UTP20,WSCD2 chr12 96209188 96949000 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMDHD1,CCDC38,CDK17,ELK3,HAL,LTA4H,SNRPF chr12 96225931 96225998 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 96225931 96225998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 9622904 9626237 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 96245173 96246422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 96253320 96253419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRPF chr12 9625631 19209926 Copy number Lung cancer paired-end sequencing 18438408 APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf60,C12orf69,CAPZA3,CD69,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRK1,LMO3,LOC100506314,LOC338817,LOC374443,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,OLR1,PDE6H,PIK3C2G,PLBD1,PLCZ1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,WBP11 chr12 9631131 11391459 Substitutions and indels small cell lung cancer array-CGH 20016488 CD69,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CSDA,GABARAPL1,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRK1,LOC374443,MAGOHB,OLR1,PRH1,PRH1-PRR4,PRH2,PRR4,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B chr12 96326698 96326910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC38 chr12 96353736 96387698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AMDHD1,HAL chr12 96369426 96369519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HAL chr12 9638415 9651749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9638415 9651749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9638415 9651749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 96409818 96409887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTA4H chr12 96433506 96434506 Loss Osteosarcoma References 21215367 LTA4H chr12 9643918 19004966 Copy number Lung cancer paired-end sequencing 18438408 APOLD1,ARHGDIB,ART4,ATF7IP,BCL2L14,C12orf36,C12orf60,C12orf69,CAPZA3,CD69,CDKN1B,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC7A,CLEC9A,CLECL1,CREBL2,CSDA,DDX47,DERA,DUSP16,EMP1,EPS8,ERP27,ETV6,GABARAPL1,GPR19,GPRC5A,GPRC5D,GRIN2B,GSG1,GUCY2C,H2AFJ,HEBP1,HIST4H4,HTR7P1,KIAA1467,KLRAP1,KLRB1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRF1,KLRF2,KLRK1,LMO3,LOC100506314,LOC338817,LOC374443,LOH12CR1,LOH12CR2,LRP6,MAGOHB,MANSC1,MGP,MGST1,MIR1244-1,MIR1244-2,MIR1244-3,MIR3974,MIR613,MIR614,OLR1,PDE6H,PIK3C2G,PLBD1,PLCZ1,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,PTPRO,RERG,RERGL,RNU6-19,RPL13AP20,SKP1P2,SLC15A5,STRAP,STYK1,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50,TAS2R7,TAS2R8,TAS2R9,TMEM52B,WBP11 chr12 96460058 96460157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 96481721 96481820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9648247 9649486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 9649176 9681330 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 96513603 96513703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 96516381 96517690 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 96545978 96546023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29655432 29655532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29656932 29688509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 96605419 96605504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELK3 chr12 96617962 96618068 Gain and loss Pancreatic cancer SNP array 17952125 ELK3 chr12 96633801 96638500 Deletion Glioma mate-paired sequence 20126413 ELK3 chr12 96635740 96635830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELK3 chr12 96635841 96636900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ELK3 chr12 96639625 96639731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELK3 chr1 2966501 3013500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ42875,PRDM16 chr12 96658024 96658110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELK3 chr12 96672954 96848094 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDK17 chr12 9667985 9668091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9667986 9668091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 96705363 96705598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDK17 chr12 96727877 96727977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDK17 chr12 96773899 96807945 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDK17 chr12 9685677 9686865 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 29687292 29695992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 96912553 96912712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 96917517 96917617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29694468 29694541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97001106 97001206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2970496 2974193 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 2970496 2974193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 970664 1472958 Copy number Lung cancer - 20668451 ERC1,RAD52,WNK1 chr12 970664 1472958 Gain or loss Breast cancer - 20668451 ERC1,RAD52,WNK1 chr12 970664 1472958 Gain or loss Cancer - 20668451 ERC1,RAD52,WNK1 chr12 970664 1472958 Gain or loss Lung cancer - 20668451 ERC1,RAD52,WNK1 chr12 970664 1472958 Gain or loss Ovarian cancer - 20668451 ERC1,RAD52,WNK1 chr12 970664 1472958 Gain or loss Pancreas cancer - 20668451 ERC1,RAD52,WNK1 chr12 970664 1472958 Gain or loss Prostate cancer - 20668451 ERC1,RAD52,WNK1 chr12 970665 1475360 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERC1,RAD52,WNK1 chr12 970665 1475360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERC1,RAD52,WNK1 chr12 970665 1475360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERC1,RAD52,WNK1 chr12 970699 1469804 Amplification or deletion Cancer Array CGH 17440070 ERC1,RAD52,WNK1 chr12 9713473 9740248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9713576 9743306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9713576 9743306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 971501 1318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERC1,RAD52,WNK1 chr12 97155462 97155923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 97194051 97197110 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 97194059 97196221 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 97267367 97312698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEDD1 chr12 97270339 97270439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97292729 97292829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97314142 97314284 Gain and loss Pancreatic cancer SNP array 17952125 NEDD1 chr12 97314147 97314284 Gain and loss Pancreatic cancer SNP array 17952125 NEDD1 chr12 97335807 97335947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD1 chr12 97351127 97353238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 97411864 97446587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 97433536 97467028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97433536 97467028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97435063 97465354 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 97462831 97486479 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 97477836 97483764 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 97478894 97478994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97479533 97483131 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 97480286 97480386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97486969 97487478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 97489871 97498245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 97495167 97495355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97495407 97495507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97508632 97509114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97508632 97509114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97509651 97541200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 97511533 97519909 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr12 97511534 97519906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97511534 97519906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97517544 97517792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97523783 97523869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97531314 97562863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97531314 97562863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97540771 97542091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 97541546 97631672 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 97544425 97551961 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr12 97550622 97550722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97551177 99047626 Deletion Cancer Affymetrix 250K Sty array 20164920 APAF1,IKBIP,LOC643770,MIR1251,MIR135A2,MIR4303,RMST,SLC25A3,SLC9A7P1,SNORA53,TMPO,TMPO-AS1 chr12 97553009 97553084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 2975603 3345045 Copy number Lung cancer - 20668451 FLJ42875,MIR4251,PRDM16 chr1 2975603 3345045 Gain or loss Breast cancer - 20668451 FLJ42875,MIR4251,PRDM16 chr1 2975603 3345045 Gain or loss Cancer - 20668451 FLJ42875,MIR4251,PRDM16 chr1 2975603 3345045 Gain or loss Lung cancer - 20668451 FLJ42875,MIR4251,PRDM16 chr1 2975603 3345045 Gain or loss Ovarian cancer - 20668451 FLJ42875,MIR4251,PRDM16 chr1 2975603 3345045 Gain or loss Pancreas cancer - 20668451 FLJ42875,MIR4251,PRDM16 chr1 2975603 3345045 Gain or loss Prostate cancer - 20668451 FLJ42875,MIR4251,PRDM16 chr1 2975604 3345043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ42875,MIR4251,PRDM16 chr1 2975604 3345043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ42875,MIR4251,PRDM16 chr1 2975604 3345045 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ42875,MIR4251,PRDM16 chr12 97563209 97653335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 97563209 97653335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 9757616 9771522 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KLRB1,LOC374443 chr12 97576563 97576663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97604788 97618679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 9760538 9911534 Loss Autism qPCR 20531469 CD69,CLEC2D,CLECL1,LOC374443 chr12 97631806 98880646 Gain and loss Pancreatic cancer SNP array 17952125 LOC643770,MIR1251,MIR135A2,MIR4303,RMST,SLC9A7P1 chr12 97646649 97646733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97653201 98902563 Copy number Ollier disease Affymetrix SNP 6.0 array 21235737 LOC643770,MIR1251,MIR135A2,MIR4303,RMST,SLC9A7P1 chr12 97653202 98902563 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC643770,MIR1251,MIR135A2,MIR4303,RMST,SLC9A7P1 chr12 97653469 98902563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC643770,MIR1251,MIR135A2,MIR4303,RMST,SLC9A7P1 chr12 97653469 98902563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643770,MIR1251,MIR135A2,MIR4303,RMST,SLC9A7P1 chr12 9766359 9777127 Gain and loss Pancreatic cancer SNP array 17952125 LOC374443 chr12 9766361 9777127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC374443 chr12 9766361 9777127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC374443 chr12 97716721 97716821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97719929 97889727 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR1251,RMST chr12 97719929 97889727 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR1251,RMST chr12 97722027 97733458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 97750878 97750978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29776627 29776727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97784525 97784625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 9779283 9801431 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC374443 chr12 97868469 97909305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1251,RMST chr12 97941000 98092526 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 MIR135A2 chr12 97954658 97954750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97961843 97996454 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 9796348 9804764 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 LOC374443 chr12 9796351 9804764 Gain and loss Pancreatic cancer SNP array 17952125 LOC374443 chr12 9796353 9804764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC374443 chr12 9796353 9804764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC374443 chr12 97968887 97968987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 97970338 97970665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 97980029 97980151 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 97980056 97980150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 97991514 97991614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98000306 98136280 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 98000306 98136280 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr12 98001692 98001814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 98010172 98010272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98011170 98011250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29802650 29802932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 98097757 132294671 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AACS,ABCB9,ACACB,ACAD10,ACADS,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf23,C12orf42,C12orf43,C12orf45,C12orf49,C12orf52,C12orf65,C12orf73,C12orf75,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CHPT1,CHST11,CIT,CKAP4,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CRY1,CUX2,DAO,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DYNLL1,EID3,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GAS2L3,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GPR133,GTF2H3,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KIAA1033,KNTC1,KSR2,LHX5,LINC00173,LINC00485,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC116437,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC643770,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR1827,MIR3612,MIR3652,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MORN3,MPHOSPH9,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NFYB,NOS1,NR1H4,NT5DC3,NUAK1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PITPNM2,PIWIL1,PLA2G1B,PLBD2,PMCH,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RAN,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RIMBP2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SFSWAP,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRNP35,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,STX2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRIAP1,TRPV4,TXNRD1,UBC,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,UTP20,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 98108882 98108982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98140391 98140423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98193799 98238777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 98241696 98241770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98267550 98313181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 29827162 29854041 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 98289943 98702874 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MIR4303 chr12 98316003 98327342 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 98316003 98327342 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr12 98318079 98326901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 98318101 98326919 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 98319260 98326639 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr12 98319412 98322853 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 98319412 98329506 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 98319412 98330170 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 98319424 98322865 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 98319424 98322865 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 98319424 98322865 Deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 NOT_FOUND chr12 98319768 98327211 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr12 98320438 98322309 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr12 98322858 130692602 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.29 20877625 AACS,ABCB9,ACACB,ACAD10,ACADS,ACTR6,ADAM1A,ALDH1L2,ALDH2,ALKBH2,ANAPC5,ANAPC7,ANKRD13A,ANKS1B,ANO4,APAF1,APPL2,ARL1,ARL6IP4,ARPC3,ASCL1,ASCL4,ATP2A2,ATP6V0A2,ATXN2,B3GNT4,BCL7A,BRAP,BRI3BP,BTBD11,C12orf23,C12orf42,C12orf43,C12orf45,C12orf49,C12orf52,C12orf65,C12orf73,C12orf75,C12orf76,CABP1,CAMKK2,CCDC42B,CCDC53,CCDC60,CCDC62,CCDC63,CCDC64,CCDC92,CDK2AP1,CHPT1,CHST11,CIT,CKAP4,CLIP1,CMKLR1,COQ5,CORO1C,COX6A1,CRY1,CUX2,DAO,DDX54,DDX55,DENR,DEPDC4,DHX37,DIABLO,DNAH10,DRAM1,DTX1,DYNLL1,EID3,EIF2B1,ERP29,FAM101A,FAM109A,FAM216A,FAM222A,FAM222A-AS1,FAM71C,FBXO21,FBXW8,FICD,FLJ31485,FLJ37505,FOXN4,FZD10,GAS2L3,GATC,GCN1L1,GIT2,GLT1D1,GLT8D2,GLTP,GNN,GNPTAB,GOLGA2P5,GPN3,GTF2H3,HCAR1,HCAR2,HCAR3,HCFC2,HECTD4,HIP1R,HNF1A,HNF1A-AS1,HPD,HRK,HSP90B1,HSPB8,HVCN1,IFT81,IGF1,IKBIP,IL31,IQCD,ISCU,KCTD10,KDM2B,KIAA1033,KNTC1,KSR2,LHX5,LINC00173,LINC00485,LINC00507,LOC100128554,LOC100131138,LOC100190940,LOC100287944,LOC100505978,LOC100506668,LOC100507066,LOC100507091,LOC100507206,LOC144742,LOC338799,LOC387895,LOC400084,LOC440117,LOC643770,LOC728739,LRRC43,MAP1LC3B2,MAPKAPK5,MAPKAPK5-AS1,MED13L,MIR1178,MIR1827,MIR3612,MIR3652,MIR3908,MIR3922,MIR4303,MIR4304,MIR4472-2,MIR4497,MIR4498,MIR4700,MIR5188,MIR620,MLEC,MLXIP,MMAB,MORN3,MPHOSPH9,MSI1,MTERFD3,MVK,MYBPC1,MYL2,MYO1H,NAA25,NCOR2,NFYB,NOS1,NR1H4,NT5DC3,NUAK1,NUP37,OAS1,OAS2,OAS3,OASL,OGFOD2,ORAI1,P2RX4,P2RX7,PAH,PARPBP,PEBP1,PITPNM2,PLA2G1B,PLBD2,PMCH,POLR3B,POP5,PPP1CC,PPTC7,PRDM4,PRKAB1,PSMD9,PTPN11,PWP1,PXN,PXN-AS1,RAB35,RAD9B,RASAL1,RBM19,RFC5,RFX4,RHOF,RIC8B,RILPL1,RILPL2,RNF10,RNF34,RNFT2,RPH3A,RPL6,RPLP0,RSRC2,SART3,SBNO1,SCARB1,SCYL2,SDS,SDSL,SELPLG,SETD1B,SETD8,SH2B3,SIRT4,SLC15A4,SLC17A8,SLC24A6,SLC25A3,SLC41A2,SLC5A8,SLC9A7P1,SNORA53,SNRNP35,SPIC,SPPL3,SRRM4,SRSF9,SSH1,STAB2,SUDS3,SVOP,SYCP3,TAOK3,TBX3,TBX5,TBX5-AS1,TCHP,TCP11L2,TCTN1,TCTN2,TDG,TESC,TMED2,TMEM116,TMEM119,TMEM120B,TMEM132B,TMEM132C,TMEM132D,TMEM233,TMPO,TMPO-AS1,TPCN1,TRAFD1,TRIAP1,TRPV4,TXNRD1,UBC,UBE3B,UHRF1BP1L,UNC119B,UNG,USP30,USP30-AS1,UTP20,VPS29,VPS33A,VPS37B,VSIG10,WDR66,WSB2,WSCD2,ZCCHC8,ZNF664,ZNF664-FAM101A chr12 98342323 98344169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 98351254 98351406 Gain Normal 244K array 17666407 NOT_FOUND chr12 98387395 98387474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98429257 98429357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98433426 98580660 Loss Asthma Illumina 550K SNP array 20841430 NOT_FOUND chr12 9844001 10269000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD69,CLEC12A,CLEC12B,CLEC1A,CLEC1B,CLEC2A,CLEC2B,CLEC2D,CLEC9A,CLECL1,KLRF1,KLRF2 chr12 98445422 98540678 Loss Autism qPCR, Agilent 1M,Illumina 1M 20531469 NOT_FOUND chr12 98479337 98584775 Gain Normal 244K array 17666407 NOT_FOUND chr12 98491661 98519308 Deletion Sertoli-cell only syndrome Array-CGH 20877625 NOT_FOUND chr12 98510252 98541903 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr12 98518469 98519837 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 98519837 98532452 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr12 98543999 98546292 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 2985453 2985543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98565662 98567955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 98565662 98567955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 98570132 98570192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98571942 98572042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98571961 98572061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98587307 98717103 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 29860548 29860648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 98613754 99237253 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-754K arrays 21546498 ANKS1B,APAF1,IKBIP,LOC643770,SLC25A3,SLC9A7P1,SNORA53,TMPO,TMPO-AS1 chr12 98695529 98695629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 9871158 9871258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLECL1 chr12 9871159 9871389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLECL1 chr12 9871344 9888868 Gain and loss Pancreatic cancer SNP array 17952125 CLECL1 chr12 9871344 9891091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLECL1 chr12 9871344 9891091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLECL1 chr12 98718282 99471942 LOH Normal High-resolution SNP genotyping 21211785 ANKS1B,APAF1,IKBIP,LOC643770,SLC25A3,SLC9A7P1,SNORA53,TMPO,TMPO-AS1 chr12 98750675 98759272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr12 98812476 98815916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 98812528 98816065 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr12 98818113 98818203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 29889979 29890112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 98905295 98906072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 98926958 98927747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPO chr12 98933322 99039093 Gain and loss Pancreatic cancer SNP array 17952125 APAF1,IKBIP,SLC25A3,SNORA53,TMPO chr12 98954996 99060773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APAF1,IKBIP,SLC25A3,SNORA53 chr12 98954996 99060773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APAF1,IKBIP,SLC25A3,SNORA53 chr12 98956408 98956493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 9896244 9913725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD69 chr12 9896244 9913725 Gain and loss Pancreatic cancer SNP array 17952125 CD69 chr12 9896244 9913725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD69 chr12 98987134 98987775 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 SLC25A3 chr12 99015855 99015900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IKBIP chr12 99052685 99059074 Gain and loss Pancreatic cancer SNP array 17952125 APAF1 chr12 99054773 99054936 Gain and loss Pancreatic cancer SNP array 17952125 APAF1 chr12 99074348 99091202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APAF1 chr12 99074348 99091202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APAF1 chr12 99075165 99075247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APAF1 chr12 99076384 99076674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APAF1 chr12 99096333 99120669 Gain and loss Pancreatic cancer SNP array 17952125 APAF1 chr12 99103399 99103488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APAF1 chr12 99117996 99142332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B,APAF1 chr12 99117996 99142332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B,APAF1 chr12 99121578 99184988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B,APAF1 chr12 99121578 99184988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B,APAF1 chr12 99130941 99131000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99140346 99140410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 9914645 9914728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 99148512 99163322 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 99149660 99149760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99153936 99154036 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 99156483 99156583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99163530 99237969 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 99170172 99184988 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ANKS1B chr12 99175597 99175699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 99178905 99179005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99185680 99258043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 99185680 99258043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 99200091 99200391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKS1B chr12 99253166 99253266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99253325 99318276 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 99258467 99259054 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ANKS1B chr12 99272568 99317399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKS1B chr12 99274589 99274689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99274988 99339939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 99274988 99339939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 99298391 99298496 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 99319821 99354998 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKS1B chr12 99320054 99320159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 99370147 99460106 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 99391810 99481775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 99391810 99481775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr1 29939773 30752218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr12 9942539 9976213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr12 9942539 9976213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr12 99460967 99468082 Gain Normal Birdsuite, version 1.5.2 22087296 ANKS1B chr12 99464337 99464430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99469957 99521151 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 99475074 99476031 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr1 29949616 31202941 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 MATN1,MATN1-AS1 chr12 9950059 9950159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr12 99512769 99542812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 99512769 99542812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B chr12 995720 995768 Loss Normal 244K array 17666407 WNK1 chr12 99592614 100088839 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKS1B,FAM71C chr12 99592614 101691941 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR6,ANKS1B,ANO4,DEPDC4,FAM71C,GAS2L3,GOLGA2P5,MIR1827,NR1H4,SCYL2,SLC17A8,SLC5A8,UHRF1BP1L,UTP20 chr12 99680678 99725320 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKS1B chr12 99691053 100024882 Gain and loss Pancreatic cancer SNP array 17952125 ANKS1B chr12 99699768 99699868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99712716 100046539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B,FAM71C chr12 99712716 100046539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS1B,FAM71C chr12 99732418 99732484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99739786 100351126 LOH Normal High-resolution SNP genotyping 21211785 ANKS1B,FAM71C chr12 99740419 99740451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99757560 99931530 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ANKS1B chr12 99762761 99762846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99776498 99776598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99799021 99799096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99819367 99819467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99826727 99826867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99829501 99931000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKS1B chr12 99858740 99891783 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKS1B chr12 99913378 99913478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr12 99931001 101759000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTR6,ANKS1B,ANO4,DEPDC4,FAM71C,GAS2L3,GOLGA2P5,MIR1827,NR1H4,SCYL2,SLC17A8,SLC5A8,UHRF1BP1L,UTP20 chr12 9996624 9996986 Gain and loss Pancreatic cancer SNP array 17952125 KLRF1 chr12 9996624 9996986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLRF1 chr12 99983079 99983179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKS1B chr1 30000000 32200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BAI2,COL16A1,FABP3,HCRTR1,LAPTM5,LOC149086,LOC284551,MATN1,MATN1-AS1,MIR4420,NKAIN1,PEF1,PUM1,SDC3,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,TINAGL1,ZCCHC17 chr1 30000000 34400000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADC,AK2,BAI2,BSDC1,CCDC28B,COL16A1,CSMD2,DCDC2B,EIF3I,FABP3,FAM167B,FNDC5,HCRTR1,HDAC1,HMGB4,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LAPTM5,LCK,LOC100128071,LOC149086,LOC284551,LOC402779,MARCKSL1,MATN1,MATN1-AS1,MIR3605,MIR4254,MIR4420,MTMR9LP,NKAIN1,PEF1,PHC2,PTP4A2,PUM1,RBBP4,RNF19B,S100PBP,SDC3,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,SPOCD1,SYNC,TINAGL1,TMEM234,TMEM39B,TMEM54,TRIM62,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZNF362,ZSCAN20 chr1 3001680 3002116 Gain and loss Pancreatic cancer SNP array 17952125 PRDM16 chr1 30029934 30030027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3003793 3007490 Gain and loss Pancreatic cancer SNP array 17952125 PRDM16 chr1 30040112 30040212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30048807 41173191 Substitutions and indels small cell lung cancer array-CGH 20016488 ADC,ADPRHL2,AK2,AKIRIN1,BAI2,BMP8A,BMP8B,BSDC1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CAP1,CCDC28B,CDCA8,CLSPN,COL16A1,COL8A2,COL9A2,CSF3R,CSMD2,DCDC2B,DEM1,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EIF3I,EPHA10,FABP3,FAM167B,FAM176B,FHL3,FNDC5,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,HCRTR1,HDAC1,HEYL,HMGB4,HPCA,HPCAL4,INPP5B,IQCC,KHDRBS1,KIAA0319L,KIAA0754,KIAA1522,KPNA6,LAPTM5,LCK,LOC100128071,LOC100130557,LOC149086,LOC284551,LOC339442,LOC402779,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MARCKSL1,MATN1,MATN1-AS1,MEAF6,MFSD2A,MIR3605,MIR3659,MIR4254,MIR4255,MIR4420,MIR5581,MRPS15,MTF1,MTMR9LP,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NKAIN1,NT5C1A,OSCP1,OXCT2,PABPC4,PEF1,PHC2,POU3F1,PPIE,PPIEL,PPT1,PSMB2,PTP4A2,PUM1,RBBP4,RHBDL2,RIMS3,RLF,RNF19B,RRAGC,RSPO1,S100PBP,SDC3,SERINC2,SF3A3,SFPQ,SH3D21,SMAP2,SNIP1,SNORA55,SNORD103A,SNORD103B,SNORD85,SNRNP40,SPOCD1,STK40,SYNC,TEKT2,TFAP2E,THRAP3,TINAGL1,TMCO2,TMEM234,TMEM39B,TMEM54,TRAPPC3,TRIM62,TRIT1,TSSK3,TXLNA,UTP11L,YARS,YRDC,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZNF642,ZNF643,ZNF684,ZSCAN20 chr1 30049683 30094618 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 3005226 3024732 Gain and loss Pancreatic cancer SNP array 17952125 PRDM16 chr1 3008901 3378340 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF16,MIR4251,PRDM16 chr1 30095536 30128045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 0 114142980 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 0 114142980 Copy number Syphilis Real-time PCR 21752804 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 0 114142980 Copy number Type 2 diabetes Mitotracker Green probe 21760887 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr1 30117856 30118634 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 30130336 30130439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 3013501 3347500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4251,PRDM16 chr1 30171736 30171820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30173818 30173918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30200000 32400000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 BAI2,COL16A1,FABP3,HCRTR1,LAPTM5,LOC149086,LOC284551,MATN1,MATN1-AS1,MIR4254,MIR4420,NKAIN1,PEF1,PTP4A2,PUM1,SDC3,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,SPOCD1,TINAGL1,ZCCHC17 chr1 30200000 32400000 Loss and deletion Multiple myeloma Array CGH 16616336 BAI2,COL16A1,FABP3,HCRTR1,LAPTM5,LOC149086,LOC284551,MATN1,MATN1-AS1,MIR4254,MIR4420,NKAIN1,PEF1,PTP4A2,PUM1,SDC3,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,SPOCD1,TINAGL1,ZCCHC17 chr1 30200000 63811651 Gain Medulloblastoma SNP arrays 21979893 ACOT11,ADC,ADPRHL2,AGBL4,AK2,AKIRIN1,AKR1A1,ANGPTL3,ARTN,ATG4C,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf168,C1orf177,C1orf185,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf87,C1orf94,C8A,C8B,CAP1,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC28B,CCDC30,CDC20,CDCA8,CDCP2,CDKN2C,CITED4,CLDN19,CLSPN,CMPK1,COL16A1,COL8A2,COL9A2,CPT2,CSF3R,CSMD2,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DEM1,DHCR24,DIO1,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNALI1,DOCK7,DPH2,EBNA1BP2,ECHDC2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,EPHA10,EPS15,ERI3,ERMAP,FAAH,FABP3,FAF1,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FGGY,FHL3,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GNL2,GPBP1L1,GPX7,GRIK3,GUCA2A,GUCA2B,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HIVEP3,HMGB4,HOOK1,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HYI,INADL,INPP5B,IPO13,IPP,IQCC,JUN,KANK4,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIF2C,KLF17,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LEPRE1,LINC00466,LOC100128071,LOC100129924,LOC100130557,LOC100131060,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC339442,LOC400752,LOC402779,LOC653160,LOC728431,LOC729041,LRP8,LRRC41,LRRC42,LSM10,LURAP1,MACF1,MAGOH,MANEAL,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3605,MIR3659,MIR4254,MIR4255,MIR4420,MIR4422,MIR4711,MIR4781,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MTF1,MTMR9LP,MUTYH,MYCBP,MYCL1,MYSM1,NASP,NCDN,NDUFS5,NFIA,NFYC,NKAIN1,NRD1,NSUN4,NT5C1A,OMA1,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PEF1,PHC2,PIK3R3,PLK3,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PRKAA2,PRPF38A,PSMB2,PTCH2,PTP4A2,PTPRF,PUM1,RAB3B,RAD54L,RBBP4,RHBDL2,RIMKLA,RIMS3,RLF,RNF11,RNF19B,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,S100PBP,SCMH1,SCP2,SDC3,SELRC1,SERINC2,SF3A3,SFPQ,SH3D21,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC5A9,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNRNP40,SPATA6,SPOCD1,SSBP3,ST3GAL3,STIL,STK40,SYNC,SZT2,TACSTD2,TAL1,TCEANC2,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMEM125,TMEM234,TMEM39B,TMEM48,TMEM53,TMEM54,TMEM59,TMEM61,TMEM69,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIT1,TSPAN1,TSSK3,TTC22,TTC39A,TTC4,TXLNA,TXNDC12,UQCRH,UROD,USP1,USP24,UTP11L,WDR65,YARS,YBX1,YIPF1,YRDC,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF642,ZNF643,ZNF684,ZNF691,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B chr1 30201199 30222177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 30226635 30226706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30245671 30246671 Gain Chordoma References 21215367 NOT_FOUND chr1 30261321 30261421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30302949 30303003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30336050 30952188 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr1 30420920 30421020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30427799 30432990 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 30436285 30436317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30436897 30437021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 30441339 30475485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 30471890 30471990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30471957 30472049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 30478850 30478933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30479606 30479878 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 30500000 163800000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARTN,ASB17,ASH1L,ASH1L-AS1,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATXN7L2,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1orf109,C1orf110,C1orf111,C1orf122,C1orf123,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf216,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CADM3,CAP1,CAPZA1,CASQ1,CASQ2,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD48,CD53,CD58,CD5L,CD84,CDC14A,CDC20,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELF3,CELSR2,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLK2,CLSPN,CMPK1,CNN3,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DBT,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,EBNA1BP2,ECHDC2,ECM1,EDN2,EFCAB7,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,ELTD1,EMBP1,ENSA,EPHA10,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ETV3,ETV3L,EVI5,EXTL2,F11R,F3,FAAH,FABP3,FAF1,FAM102B,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ39739,FMO5,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GABPB2,GADD45A,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GPATCH4,GPBP1L1,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCS2,HOOK1,HORMAD1,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HYDIN2,HYI,IFI16,IFI44,IFI44L,IGSF3,IGSF8,IGSF9,IL12RB2,IL23R,IL6R,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIF2C,KIRREL,KLF17,KLHDC9,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINGO4,LIX1L,LMNA,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100506343,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC339442,LOC339524,LOC388692,LOC400752,LOC402779,LOC440600,LOC643355,LOC643441,LOC645166,LOC646268,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LY9,LYSMD1,MAB21L3,MACF1,MAGI3,MAGOH,MAN1A2,MANEAL,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MEAF6,MED8,MEF2D,MEX3A,MFSD2A,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR2682,MIR30C1,MIR30E,MIR3117,MIR320B1,MIR3605,MIR3659,MIR3671,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4654,MIR4711,MIR4781,MIR4794,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPL,MPZ,MRPL24,MRPL37,MRPL9,MRPS15,MRPS21,MSH4,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUTYH,MYBPHL,MYCBP,MYCL1,MYSM1,NASP,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCSTN,NDUFS2,NDUFS5,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIT1,NKAIN1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD7B,OVGP1,OXCT2,PABPC4,PALMD,PAQR6,PARS2,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGM,PIK3R3,PIN1P1,PIP5K1A,PKLR,PKN2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PODN,POGZ,POLR3C,POLR3GL,POMGNT1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPT1,PRCC,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PUM1,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAB3B,RABGGTB,RAD54L,RAP1A,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,REG4,RFX5,RGS4,RGS5,RHBDL2,RHBG,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNF11,RNF115,RNF19B,RNF220,RNPC3,RNU6-6,ROR1,RORC,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSPO1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA4,SCMH1,SCNM1,SCP2,SDC3,SDHC,SEC22B,SELENBP1,SELRC1,SEMA4A,SEMA6C,SEP15,SERBP1,SERINC2,SETDB1,SF3A3,SF3B4,SFPQ,SGIP1,SH2D1B,SH2D2A,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SNAPIN,SNIP1,SNORA42,SNORA55,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA6,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRSF11,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STXBP3,SUMO1P3,SV2A,SYCP1,SYDE2,SYNC,SYPL2,SYT11,SYT6,SZT2,TACSTD2,TAF13,TAGLN2,TAL1,TARS2,TBX15,TCEANC2,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM234,TMEM39B,TMEM48,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM69,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TOMM40L,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIT1,TRMT13,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UFC1,UHMK1,UOX,UQCRH,UROD,USF1,USP1,USP21,USP24,USP33,UTP11L,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WLS,WNT2B,YARS,YBX1,YIPF1,YRDC,YY1AP1,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF642,ZNF643,ZNF644,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 30500000 171200000 Gain Glioblastoma multiforme conventional CGH 21080181 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALDH9A1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARTN,ASB17,ASH1L,ASH1L-AS1,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATXN7L2,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf122,C1orf123,C1orf129,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf216,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CADM3,CAP1,CAPZA1,CASQ1,CASQ2,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD53,CD58,CD5L,CD84,CDC14A,CDC20,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELF3,CELSR2,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLK2,CLSPN,CMPK1,CNN3,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,DUSP27,EBNA1BP2,ECHDC2,ECM1,EDN2,EFCAB7,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,ELTD1,EMBP1,ENSA,EPHA10,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ETV3,ETV3L,EVI5,EXTL2,F11R,F3,F5,FAAH,FABP3,FAF1,FAM102B,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM78B,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ39739,FMO2,FMO3,FMO5,FMO6P,FMO9P,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GABPB2,GADD45A,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPBP1L1,GPR161,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCS2,HOOK1,HORMAD1,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HYDIN2,HYI,IFI16,IFI44,IFI44L,IGSF3,IGSF8,IGSF9,IL12RB2,IL23R,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIF2C,KIFAP3,KIRREL,KLF17,KLHDC9,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMO4,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506343,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284688,LOC339442,LOC339524,LOC388692,LOC400752,LOC400794,LOC402779,LOC440600,LOC440700,LOC643355,LOC643441,LOC645166,LOC646268,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LY9,LYSMD1,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MANEAL,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MEAF6,MED8,MEF2D,METTL11B,METTL18,MEX3A,MFSD2A,MGC27382,MGST3,MIER1,MIR101-1,MIR1262,MIR1295A,MIR1295B,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR2682,MIR30C1,MIR30E,MIR3117,MIR3119-1,MIR3119-2,MIR320B1,MIR3605,MIR3658,MIR3659,MIR3671,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4654,MIR4711,MIR4781,MIR4794,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MRPL24,MRPL37,MRPL9,MRPS15,MRPS21,MSH4,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUTYH,MYBPHL,MYCBP,MYCL1,MYSM1,NASP,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCSTN,NDUFS2,NDUFS5,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIT1,NKAIN1,NME7,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD7B,OVGP1,OXCT2,PABPC4,PALMD,PAQR6,PARS2,PBX1,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGM,PIK3R3,PIN1P1,PIP5K1A,PKLR,PKN2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPT1,PRCC,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PUM1,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAB3B,RABGGTB,RAD54L,RAP1A,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RCSD1,REG4,RFX5,RGS4,RGS5,RHBDL2,RHBG,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNF11,RNF115,RNF19B,RNF220,RNPC3,RNU6-6,ROR1,RORC,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSPO1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDHC,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SERBP1,SERINC2,SETDB1,SF3A3,SF3B4,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SNAPIN,SNIP1,SNORA42,SNORA55,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNRNP40,SNX27,SNX7,SORT1,SPAG17,SPATA6,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRSF11,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STXBP3,SUMO1P3,SV2A,SYCP1,SYDE2,SYNC,SYPL2,SYT11,SYT6,SZT2,TACSTD2,TADA1,TAF13,TAGLN2,TAL1,TARS2,TBX15,TBX19,TCEANC2,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THRAP3,TIE1,TINAGL1,TIPRL,TM2D1,TMCO1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM234,TMEM39B,TMEM48,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM69,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TOMM40L,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIT1,TRMT13,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UCK2,UFC1,UHMK1,UOX,UQCRH,UROD,USF1,USP1,USP21,USP24,USP33,UTP11L,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WLS,WNT2B,XCL1,XCL2,YARS,YBX1,YIPF1,YRDC,YY1AP1,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF642,ZNF643,ZNF644,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 30500000 184000000 Deletion Cancer array-based techniques 21183584 ABCA4,ABCD3,ABL2,ACADM,ACBD6,ACOT11,ACP6,ACTG1P4,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALDH9A1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ARTN,ASB17,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATXN7L2,AXDND1,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1orf105,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf122,C1orf123,C1orf129,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf216,C1orf220,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CACNA1E,CACYBP,CADM3,CAP1,CAPZA1,CASQ1,CASQ2,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD53,CD58,CD5L,CD84,CDC14A,CDC20,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELF3,CELSR2,CENPL,CEP350,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLK2,CLSPN,CMPK1,CNN3,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHX9,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,DUSP27,EBNA1BP2,ECHDC2,ECM1,EDN2,EFCAB7,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,ELTD1,EMBP1,ENSA,EPHA10,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ETV3,ETV3L,EVI5,EXTL2,F11R,F3,F5,FAAH,FABP3,FAF1,FAM102B,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM46C,FAM5B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GABPB2,GADD45A,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLT25D2,GLUL,GM140,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPBP1L1,GPR161,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCS2,HOOK1,HORMAD1,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HYDIN2,HYI,IER5,IFI16,IFI44,IFI44L,IGSF3,IGSF8,IGSF9,IL12RB2,IL23R,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1614,KIF2C,KIFAP3,KIRREL,KLF17,KLHDC9,KLHL20,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX4,LHX8,LINC00272,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMO4,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100507564,LOC100507634,LOC100527964,LOC149086,LOC284551,LOC284648,LOC284688,LOC339442,LOC339524,LOC388692,LOC400752,LOC400794,LOC402779,LOC440600,LOC440700,LOC643355,LOC643441,LOC645166,LOC646268,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOC730102,LOC730159,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LY9,LYSMD1,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MANEAL,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MEAF6,MED8,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD2A,MGC27382,MGST3,MIER1,MIR101-1,MIR1262,MIR1295A,MIR1295B,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR199A2,MIR214,MIR2682,MIR30C1,MIR30E,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR320B1,MIR3605,MIR3658,MIR3659,MIR3671,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4424,MIR4654,MIR4711,MIR4781,MIR4794,MIR488,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL9,MRPS14,MRPS15,MRPS21,MSH4,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOC,MYSM1,NASP,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCSTN,NDUFS2,NDUFS5,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIT1,NKAIN1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD7B,OVGP1,OXCT2,PABPC4,PALMD,PAPPA2,PAQR6,PARS2,PBX1,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIK3R3,PIN1P1,PIP5K1A,PKLR,PKN2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPT1,PRCC,PRDX1,PRDX6,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PUM1,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RABGAP1L,RABGGTB,RAD54L,RALGPS2,RAP1A,RASAL2,RASAL2-AS1,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RC3H1,RCSD1,REG4,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF19B,RNF220,RNPC3,RNU6-6,ROR1,RORC,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSPO1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SERBP1,SERINC2,SERPINC1,SETDB1,SF3A3,SF3B4,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNIP1,SNORA42,SNORA55,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNRNP40,SNX27,SNX7,SOAT1,SORT1,SPAG17,SPATA6,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRSF11,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STX6,STXBP3,SUCO,SUMO1P3,SV2A,SYCP1,SYDE2,SYNC,SYPL2,SYT11,SYT6,SZT2,TACSTD2,TADA1,TAF13,TAGLN2,TAL1,TARS2,TBX15,TBX19,TCEANC2,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THRAP3,TIE1,TINAGL1,TIPRL,TM2D1,TMCO1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM234,TMEM39B,TMEM48,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM69,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI3K,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIT1,TRMT13,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UCK2,UFC1,UHMK1,UOX,UQCRH,UROD,USF1,USP1,USP21,USP24,USP33,UTP11L,VAMP4,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WLS,WNT2B,XCL1,XCL2,XPR1,YARS,YBX1,YIPF1,YRDC,YY1AP1,ZBTB37,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF642,ZNF643,ZNF644,ZNF648,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 30500000 184000000 Gain Multiple myeloma CGH, FISH 16461302 ABCA4,ABCD3,ABL2,ACADM,ACBD6,ACOT11,ACP6,ACTG1P4,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADC,ADCY10,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AIM2,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALDH9A1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARPC5,ARTN,ASB17,ASH1L,ASH1L-AS1,ASTN1,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATXN7L2,AXDND1,B4GALT2,B4GALT3,BAI2,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BLZF1,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1orf105,C1orf109,C1orf110,C1orf111,C1orf112,C1orf114,C1orf122,C1orf123,C1orf129,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf216,C1orf220,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf87,C1orf88,C1orf94,C2CD4D,C8A,C8B,CA14,CACHD1,CACNA1E,CACYBP,CADM3,CAP1,CAPZA1,CASQ1,CASQ2,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC28B,CCDC30,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD53,CD58,CD5L,CD84,CDC14A,CDC20,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELF3,CELSR2,CENPL,CEP350,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLK2,CLSPN,CMPK1,CNN3,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTPS1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCDC2B,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DHX9,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNALI1,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,DUSP27,EBNA1BP2,ECHDC2,ECM1,EDN2,EFCAB7,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,ELTD1,EMBP1,ENSA,EPHA10,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ETV3,ETV3L,EVI5,EXTL2,F11R,F3,F5,FAAH,FABP3,FAF1,FAM102B,FAM151A,FAM159A,FAM163A,FAM167B,FAM176B,FAM183A,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM46C,FAM5B,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FHL3,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GABPB2,GADD45A,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLT25D2,GLUL,GM140,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPBP1L1,GPR161,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HCRTR1,HDAC1,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGB4,HMGCS2,HOOK1,HORMAD1,HPCA,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HYDIN2,HYI,IER5,IFI16,IFI44,IFI44L,IGSF3,IGSF8,IGSF9,IL12RB2,IL23R,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQCC,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0040,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIAA1522,KIAA1614,KIF2C,KIFAP3,KIRREL,KLF17,KLHDC9,KLHL20,KNCN,KPNA6,KPRP,KRTCAP2,KTI12,L1TD1,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAPTM5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LCK,LDLRAD1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX4,LHX8,LINC00272,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMO4,LMX1A,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100507564,LOC100507634,LOC100527964,LOC149086,LOC284551,LOC284648,LOC284688,LOC339442,LOC339524,LOC388692,LOC400752,LOC400794,LOC402779,LOC440600,LOC440700,LOC643355,LOC643441,LOC645166,LOC646268,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOC730102,LOC730159,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LY9,LYSMD1,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MANEAL,MAP7D1,MARCKSL1,MAST2,MATN1,MATN1-AS1,MCL1,MCOLN2,MCOLN3,MEAF6,MED8,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD2A,MGC27382,MGST3,MIER1,MIR101-1,MIR1262,MIR1295A,MIR1295B,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR199A2,MIR214,MIR2682,MIR30C1,MIR30E,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR320B1,MIR3605,MIR3658,MIR3659,MIR3671,MIR4254,MIR4255,MIR4256,MIR4257,MIR4258,MIR4420,MIR4422,MIR4423,MIR4424,MIR4654,MIR4711,MIR4781,MIR4794,MIR488,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL9,MRPS14,MRPS15,MRPS21,MSH4,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTMR9LP,MTX1,MUC1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOC,MYSM1,NASP,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCF2,NCSTN,NDUFS2,NDUFS5,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIT1,NKAIN1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD7B,OVGP1,OXCT2,PABPC4,PALMD,PAPPA2,PAQR6,PARS2,PBX1,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEF1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHC2,PHGDH,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIK3R3,PIN1P1,PIP5K1A,PKLR,PKN2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPT1,PRCC,PRDX1,PRDX6,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PUM1,PVRL4,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RABGAP1L,RABGGTB,RAD54L,RALGPS2,RAP1A,RASAL2,RASAL2-AS1,RAVER2,RBBP4,RBM15,RBM8A,RBMXL1,RC3H1,RCSD1,REG4,RFWD2,RFX5,RGL1,RGS16,RGS4,RGS5,RGS8,RGSL1,RHBDL2,RHBG,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNASEL,RNF11,RNF115,RNF19B,RNF220,RNPC3,RNU6-6,ROR1,RORC,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSPO1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA3,SCARNA4,SCMH1,SCNM1,SCP2,SCYL3,SDC3,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SERBP1,SERINC2,SERPINC1,SETDB1,SF3A3,SF3B4,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH3D21,SH3GLB1,SHC1,SHCBP1L,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLC9C2,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SMG7,SMG7-AS1,SNAPIN,SNIP1,SNORA42,SNORA55,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD47,SNORD55,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNORD85,SNRNP40,SNX27,SNX7,SOAT1,SORT1,SPAG17,SPATA6,SPOCD1,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRSF11,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STX6,STXBP3,SUCO,SUMO1P3,SV2A,SYCP1,SYDE2,SYNC,SYPL2,SYT11,SYT6,SZT2,TACSTD2,TADA1,TAF13,TAGLN2,TAL1,TARS2,TBX15,TBX19,TCEANC2,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRD5,TDRKH,TEDDM1,TEKT2,TESK2,TEX35,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THRAP3,TIE1,TINAGL1,TIPRL,TM2D1,TMCO1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM234,TMEM39B,TMEM48,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM69,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI3K,TNR,TOE1,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIM62,TRIT1,TRMT13,TSACC,TSHB,TSPAN1,TSPAN2,TSSK3,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXLNA,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UCK2,UFC1,UHMK1,UOX,UQCRH,UROD,USF1,USP1,USP21,USP24,USP33,UTP11L,VAMP4,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WLS,WNT2B,XCL1,XCL2,XPR1,YARS,YBX1,YIPF1,YRDC,YY1AP1,ZBTB37,ZBTB7B,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF642,ZNF643,ZNF644,ZNF648,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 30506577 30506651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30510930 30512383 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 30510995 30512660 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 30511208 30512518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 30518501 30521000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 30521001 31115500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 30522869 30522927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3053277 3053377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM16 chr1 3053302 3053384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM16 chr1 30540669 30552122 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 30541524 30541624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30542584 30550014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 30557439 30602726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 30658491 30659494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 30665013 31084005 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 30665013 31084005 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 30736987 30737087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30777017 30810649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 3078107 3078207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM16 chr1 30781873 30810570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 30800471 30800556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30813232 30814246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 30855089 30865980 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 30855205 30855310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 30860432 30868684 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 30874409 30899760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 30875673 30875757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30888192 30888292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30888625 30888715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 30901443 30932449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 30942107 30944471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 30958583 30969474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 30958583 30969474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 30963926 30972178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 30977903 31003254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 30977903 31003254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 30985763 30986093 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 3098629 5947168 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,LOC100133612,LOC284661,LOC728716,LRRC47,MEGF6,MIR4417,MIR4689,MIR551A,NPHP4,PRDM16,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 chr13 10000000 16300000 Deletion Sudden cardiac death CGH 19188705 NOT_FOUND chr1 31000000 36400000 Copy number Aniridia syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ADC,AK2,BAI2,BSDC1,C1orf212,C1orf216,C1orf94,CCDC28B,CLSPN,COL16A1,CSMD2,DCDC2B,DLGAP3,EIF2C1,EIF2C3,EIF2C4,EIF3I,FABP3,FAM167B,FNDC5,GJA4,GJB3,GJB4,GJB5,HCRTR1,HDAC1,HMGB4,HPCA,IQCC,KHDRBS1,KIAA0319L,KIAA1522,KPNA6,LAPTM5,LCK,LOC100128071,LOC149086,LOC284551,LOC402779,LOC653160,MARCKSL1,MATN1,MATN1-AS1,MIR3605,MIR4254,MIR4420,MTMR9LP,NCDN,NKAIN1,PEF1,PHC2,PSMB2,PTP4A2,PUM1,RBBP4,RNF19B,S100PBP,SDC3,SERINC2,SFPQ,SNORD103A,SNORD103B,SNORD85,SNRNP40,SPOCD1,SYNC,TFAP2E,TINAGL1,TMEM234,TMEM39B,TMEM54,TRIM62,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZSCAN20 chr13 100040065 100040381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548AN chr13 100054092 100125171 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548AN chr13 100054092 100125171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548AN chr13 100054092 100125171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AN chr13 100054189 100125080 Gain and loss Pancreatic cancer SNP array 17952125 MIR548AN chr13 100074130 100074684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 100082427 100082630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 100082522 100082630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 100125484 100126079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 100129433 100174367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TM9SF2 chr13 100141809 100176450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TM9SF2 chr13 100143179 100889192 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLYBL,MIR4306,PCCA,TM9SF2,ZIC2,ZIC5 chr13 100201620 100219031 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TM9SF2 chr13 100206806 100207314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TM9SF2 chr13 100206812 100207311 Gain and loss Pancreatic cancer SNP array 17952125 TM9SF2 chr13 100248467 100691369 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLYBL,MIR4306,ZIC2,ZIC5 chr13 100264427 100264501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLYBL chr13 100278061 100278147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLYBL chr13 100324096 100324139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLYBL chr13 100404865 100404952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLYBL chr13 100405372 100953813 LOH Normal High-resolution SNP genotyping 21211785 CLYBL,PCCA,ZIC2,ZIC5 chr13 100423775 100423872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLYBL chr13 100442204 100443204 Gain Osteosarcoma References 21215367 CLYBL chr13 100492807 100537601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLYBL chr13 100500000 103700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A2LD1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,NALCN,NALCN-AS1,PCCA,PCCA-AS1,SLC10A2,TEX30,TMTC4,TPP2,ZIC2,ZIC5 chr13 100500000 103700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A2LD1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,NALCN,NALCN-AS1,PCCA,PCCA-AS1,SLC10A2,TEX30,TMTC4,TPP2,ZIC2,ZIC5 chr13 100500000 103700000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 A2LD1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,NALCN,NALCN-AS1,PCCA,PCCA-AS1,SLC10A2,TEX30,TMTC4,TPP2,ZIC2,ZIC5 chr13 100500000 103700000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 A2LD1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,NALCN,NALCN-AS1,PCCA,PCCA-AS1,SLC10A2,TEX30,TMTC4,TPP2,ZIC2,ZIC5 chr13 100500000 109100000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 A2LD1,ABHD13,ARGLU1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,DAOA,DAOA-AS1,EFNB2,ERCC5,FAM155A,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,NALCN,NALCN-AS1,PCCA,PCCA-AS1,SLC10A2,TEX30,TMTC4,TNFSF13B,TPP2,ZIC2,ZIC5 chr13 100500000 109100000 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 A2LD1,ABHD13,ARGLU1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,DAOA,DAOA-AS1,EFNB2,ERCC5,FAM155A,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,NALCN,NALCN-AS1,PCCA,PCCA-AS1,SLC10A2,TEX30,TMTC4,TNFSF13B,TPP2,ZIC2,ZIC5 chr13 100500000 109100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 A2LD1,ABHD13,ARGLU1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,DAOA,DAOA-AS1,EFNB2,ERCC5,FAM155A,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,NALCN,NALCN-AS1,PCCA,PCCA-AS1,SLC10A2,TEX30,TMTC4,TNFSF13B,TPP2,ZIC2,ZIC5 chr13 100504131 100866814 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLYBL,PCCA,ZIC2,ZIC5 chr13 100504131 100866814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLYBL,PCCA,ZIC2,ZIC5 chr13 100504131 100866814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLYBL,PCCA,ZIC2,ZIC5 chr13 100504131 100866844 Gain and loss Pancreatic cancer SNP array 17952125 CLYBL,PCCA,ZIC2,ZIC5 chr13 100612314 100612414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 100616282 100731618 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ZIC2,ZIC5 chr13 100619031 100653125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZIC2,ZIC5 chr13 100689901 100696300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 100691060 100691160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 100692145 100694425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 100692149 100694523 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 100702288 100702387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 100704945 100705263 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 100830948 100831048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCCA chr13 100833405 100833491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCCA chr13 100902967 101166794 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PCCA,PCCA-AS1 chr13 100902967 101166794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCCA,PCCA-AS1 chr13 100902967 101166794 Gain and loss Pancreatic cancer SNP array 17952125 PCCA,PCCA-AS1 chr13 100902967 101166794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCCA,PCCA-AS1 chr13 101031201 102031053 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 A2LD1,NALCN,NALCN-AS1,PCCA,PCCA-AS1,TMTC4 chr13 101109112 101109212 Gain and loss Pancreatic cancer SNP array 17952125 PCCA chr13 101109112 101109212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCCA chr13 101117718 101117803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCCA,PCCA-AS1 chr13 101136006 101169566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCCA chr1 31011407 31050526 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 101171205 101852125 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101171205 101852125 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101171205 101852125 Gain or loss Breast cancer - 20668451 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101171205 101852125 Gain or loss Cancer - 20668451 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101171205 101852125 Gain or loss Lung cancer - 20668451 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101171205 101852125 Gain or loss Ovarian cancer - 20668451 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101171205 101852125 Gain or loss Pancreas cancer - 20668451 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101171205 101852125 Gain or loss Prostate cancer - 20668451 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101173036 101852029 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101173036 101852029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101173036 101852029 Gain and loss Pancreatic cancer SNP array 17952125 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101173036 101852029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A2LD1,NALCN,NALCN-AS1,PCCA,TMTC4 chr13 101190659 101190734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 A2LD1 chr13 101196205 101226345 Amplification Congenital anomalies of the kidney and urinary tract Array CGH 17440070 A2LD1 chr13 101196205 101226345 Deletion Cancer Array CGH 17440070 A2LD1 chr13 101229233 101229396 Gain and loss Pancreatic cancer SNP array 17952125 A2LD1 chr13 101229234 101229399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A2LD1 chr13 101229236 101229396 Gain and loss Pancreatic cancer SNP array 17952125 A2LD1 chr13 101252223 101252802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 101262483 101262569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC4 chr13 101282950 101283100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMTC4 chr13 101376140 101376219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101423377 101456499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NALCN-AS1 chr13 101433424 101433497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NALCN-AS1 chr13 101440831 101486522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NALCN-AS1 chr13 101451985 101452085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101452476 101453661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NALCN-AS1 chr13 101467304 101467420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NALCN-AS1 chr13 101467305 101467420 Gain and loss Pancreatic cancer SNP array 17952125 NALCN-AS1 chr13 101467306 101467420 Gain and loss Pancreatic cancer SNP array 17952125 NALCN-AS1 chr13 101535791 101535955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101535958 101536062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101535958 101536181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101574846 101574946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101588454 101588745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NALCN-AS1 chr13 101604241 101639324 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NALCN-AS1 chr13 101611918 101612049 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NALCN-AS1 chr13 101611921 101612037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NALCN-AS1 chr13 101635719 102898787 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FGF14,ITGBL1,MIR2681,MIR4705,NALCN,NALCN-AS1 chr13 101636895 101636995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101639175 101639275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101641165 101641265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101649027 101649117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101671943 101672025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN-AS1 chr13 101684525 101684790 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NALCN-AS1 chr13 101700000 104800000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 BIVM,BIVM-ERCC5,CCDC168,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,NALCN,NALCN-AS1,SLC10A2,TEX30,TPP2 chr13 101700000 104800000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 BIVM,BIVM-ERCC5,CCDC168,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,NALCN,NALCN-AS1,SLC10A2,TEX30,TPP2 chr13 101700000 104800000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 BIVM,BIVM-ERCC5,CCDC168,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,NALCN,NALCN-AS1,SLC10A2,TEX30,TPP2 chr13 101700000 104800000 Loss Mantle cell lymphoma Array CGH 19029149 BIVM,BIVM-ERCC5,CCDC168,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,NALCN,NALCN-AS1,SLC10A2,TEX30,TPP2 chr13 101700000 110300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABHD13,ARGLU1,BIVM,BIVM-ERCC5,CCDC168,DAOA,DAOA-AS1,EFNB2,ERCC5,FAM155A,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,MYO16,MYO16-AS1,NALCN,NALCN-AS1,SLC10A2,TEX30,TNFSF13B,TPP2 chr13 101700000 115169878 Loss Breast cancer Microarray-based CGH 17133270 ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCUN1D2,EFNB2,ERCC5,F10,F7,FAM155A,FAM70B,FGF14,FGF14-AS2,FGF14-IT1,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00443,LINC00460,LINC00551,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR2681,MIR4705,MIR548AS,MYO16,MYO16-AS1,NALCN,NALCN-AS1,PCID2,PROZ,RAB20,RASA3,SLC10A2,SOX1,SPACA7,TEX29,TEX30,TFDP1,TMCO3,TNFSF13B,TPP2,TUBGCP3,UPF3A chr13 101713397 101713553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NALCN chr13 101720860 101721160 Loss Osteosarcoma References 21215367 NALCN chr13 101758605 101758703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN chr13 101852033 101853202 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NALCN chr1 31018594 31018815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 101896426 101896529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN chr13 101897726 101897826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NALCN chr13 101991750 102037034 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NALCN chr13 102031053 102182825 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ITGBL1,NALCN chr13 102047374 102129522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1,NALCN chr13 102047374 102129522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1,NALCN chr13 102047374 102129522 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1,NALCN chr13 102047374 102129522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1,NALCN chr13 102099417 102099517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 102134682 102164628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITGBL1 chr13 102136098 102144855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1 chr13 102136098 102144855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102136098 102144855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102136382 102141316 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102137342 102137442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGBL1 chr13 102138832 102169332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITGBL1 chr13 102166513 102185547 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ITGBL1 chr13 102172153 102172254 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102172153 102172254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102179802 102181130 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1 chr13 102179802 102181130 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102179802 102181130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102184977 102187160 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1 chr13 102184977 102187160 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102193299 102195143 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102202730 102202830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGBL1 chr13 102216236 102224129 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1 chr13 102216341 102224143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102216341 102224143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102216468 102224143 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 10222749 102257497 Copy number Autism exome sequencing 22495311 A2LD1,ABCC4,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BORA,BRCA2,BTF3P11,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,INTS6,IPO5,IRG1,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR5006,MIR5007,MIR548AN,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX21,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 102234633 102249358 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1 chr13 102234633 102249358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102234633 102249358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102234638 102249358 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102239873 103867065 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BIVM,BIVM-ERCC5,CCDC168,ERCC5,FGF14,FGF14-AS2,FGF14-IT1,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR4705,SLC10A2,TEX30,TPP2 chr13 102249001 102251000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITGBL1 chr13 102249400 102291882 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1 chr13 102249400 102291882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102249400 102291882 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102249400 102291882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102257496 102326346 Gain or loss Breast cancer - 20668451 ITGBL1 chr13 102257496 102326346 Gain or loss Cancer - 20668451 ITGBL1 chr13 102257496 102326346 Gain or loss Lung cancer - 20668451 ITGBL1 chr13 102257496 102326346 Gain or loss Ovarian cancer - 20668451 ITGBL1 chr13 102257496 102326346 Gain or loss Pancreas cancer - 20668451 ITGBL1 chr13 102257496 102326346 Gain or loss Prostate cancer - 20668451 ITGBL1 chr13 102270344 102270420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102270350 102270417 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102270350 102270417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102296175 102326346 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1 chr13 102296175 102326346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102296175 102326346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102296206 102326345 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102330450 102346384 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGBL1 chr13 102330450 102346384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102330450 102346384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGBL1 chr13 102341686 102346384 Gain and loss Pancreatic cancer SNP array 17952125 ITGBL1 chr13 102342807 102342892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGBL1 chr13 102389372 102389572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF14 chr13 102397021 102401542 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF14 chr13 102492286 102524156 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 FGF14 chr13 102494351 102517197 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGF14 chr13 102494351 102517197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGF14 chr13 102494351 102517197 Gain and loss Pancreatic cancer SNP array 17952125 FGF14 chr13 102494351 102517197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF14 chr13 102495395 102500699 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FGF14 chr13 102502451 102539884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FGF14 chr13 102556419 102590404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FGF14 chr13 102603209 102603309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF14 chr13 102631311 103359464 LOH Normal High-resolution SNP genotyping 21211785 FGF14,FGF14-AS2,FGF14-IT1,METTL21C,MIR4705,TPP2 chr13 102673495 102673571 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF14 chr13 102680747 102706074 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FGF14,MIR4705 chr13 102716617 103222227 Deletion Normal Affymetrix 6.0 microarrays 20967226 FGF14,FGF14-AS2,FGF14-IT1 chr13 102720277 102721277 Gain Osteosarcoma References 21215367 FGF14 chr13 102729645 102729959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF14 chr13 102761569 102774211 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FGF14 chr13 102776963 102777063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF14 chr13 102807856 102808174 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF14 chr13 102889766 102890247 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FGF14 chr13 102894971 102895319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF14 chr13 102942379 102942661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF14 chr13 102982450 102982550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF14,FGF14-IT1 chr13 103073128 104839981 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BIVM,BIVM-ERCC5,CCDC168,ERCC5,KDELC1,METTL21C,METTL21CP1,MIR548AS,SLC10A2,TEX30,TPP2 chr13 103073621 103073812 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 103073812 103074350 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 103074350 103074861 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 103074761 103077157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 103074861 103076411 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 103076411 103076428 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 103076428 103077113 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 103077113 103077289 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 103077289 103077481 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 103088293 103119713 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 103089976 103090024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103114410 103114510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103177798 103180671 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 103184239 104143039 LOH Normal High-resolution SNP genotyping 21211785 BIVM,BIVM-ERCC5,CCDC168,ERCC5,KDELC1,METTL21C,METTL21CP1,MIR548AS,SLC10A2,TEX30,TPP2 chr13 103193005 103193105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103310000 114040000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABHD13,ANKRD10,ARGLU1,ARHGEF7,ATP11A,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,EFNB2,ERCC5,F10,F7,FAM155A,GRTP1,ING1,IRS2,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00443,LINC00460,LINC00551,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR548AS,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SLC10A2,SOX1,SPACA7,TEX29,TEX30,TNFSF13B,TPP2,TUBGCP3 chr13 103324143 106428198 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-990K arrays 21546498 BIVM,BIVM-ERCC5,CCDC168,DAOA,DAOA-AS1,ERCC5,KDELC1,LINC00343,METTL21C,METTL21CP1,MIR548AS,SLC10A2,TEX30,TPP2 chr13 103342070 103343070 Gain Osteosarcoma References 21215367 METTL21C chr13 103372502 103416954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC168 chr13 103442443 103443443 Loss Osteosarcoma References 21215367 KDELC1 chr13 103548162 103548241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METTL21CP1 chr13 103640000 112610000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 ABHD13,ANKRD10,ARGLU1,ARHGEF7,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,DAOA,DAOA-AS1,EFNB2,FAM155A,ING1,IRS2,LIG4,LINC00343,LINC00346,LINC00443,LINC00460,LINC00551,MIR548AS,MYO16,MYO16-AS1,RAB20,SLC10A2,TEX29,TNFSF13B chr13 103700000 105800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR548AS,SLC10A2 chr13 103700000 105800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 MIR548AS,SLC10A2 chr13 103753525 103753595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103769570 103780981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 103790924 103794758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 103794807 103795823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 103806009 103806109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103844640 103844731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103858404 103859404 Loss Chordoma References 21215367 NOT_FOUND chr13 103893938 103894038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103947454 104839981 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 103947686 103947810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103959211 103959524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 103978303 103978403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 103988090 103988190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104030441 104030541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104045259 104045359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104100314 104100414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104188954 104190823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 104197356 104242275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 104199490 104199538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104204423 104204493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104218721 104218858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 104223256 104246869 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 104264679 104265421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 104312186 104312286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104327533 104693653 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr13 104383263 104383363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104418323 104585016 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 104422508 104422608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104442063 104442163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104471434 104471534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104506092 104506435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 104517401 104517501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104642519 104674866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 104652041 104652115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104712181 104712261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104747150 104747250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104768511 104801832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 104800000 110300000 Loss Basal cell lymphoma Array CGH 16317097 ABHD13,ARGLU1,DAOA,DAOA-AS1,EFNB2,FAM155A,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,MYO16,MYO16-AS1,TNFSF13B chr13 104800000 110300000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ABHD13,ARGLU1,DAOA,DAOA-AS1,EFNB2,FAM155A,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,MYO16,MYO16-AS1,TNFSF13B chr13 104870422 104870522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 104894896 105972288 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 104916217 104941384 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 104916365 104941384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 104916365 104941384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 104916639 104940431 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 104916702 104940272 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 104949379 104983582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 104957578 108726970 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARGLU1,DAOA,DAOA-AS1,EFNB2,FAM155A,LINC00343,LINC00443,LINC00460,LINC00551 chr13 105012963 105013063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105048117 105048366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 105048220 105048369 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 105153391 105153479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105158888 105158988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105186099 105253616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 105197286 105202838 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 105220968 105221063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105246230 105246328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105247325 105247716 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 105247325 105247918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 105247361 105247931 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 105311610 105311673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105343797 105379132 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 105347874 105347992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 105347874 105347993 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 105431862 105431921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105437745 105448874 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 105438240 105438340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105495191 105495291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105507125 105507252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105578721 105578838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105605718 105605840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105605751 105605840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 105605751 105605840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105687161 105701370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 105714782 105714900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105714922 105715057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105714933 105715134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105800000 109100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD13,ARGLU1,DAOA,DAOA-AS1,EFNB2,FAM155A,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,TNFSF13B chr13 105800000 109100000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 ABHD13,ARGLU1,DAOA,DAOA-AS1,EFNB2,FAM155A,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,TNFSF13B chr13 105800000 109100000 Loss Diffuse large b-cell lymphoma QMPSF assay 18287131 ABHD13,ARGLU1,DAOA,DAOA-AS1,EFNB2,FAM155A,LIG4,LINC00343,LINC00443,LINC00460,LINC00551,TNFSF13B chr13 105876122 105876450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105876122 105876450 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 105876122 105876450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105940096 105985338 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 105940096 105985338 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 105940099 105985338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 105940099 105985338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105940099 105985338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 105940099 105985338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105961381 105961476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 105992022 106018513 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 105992022 106018513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105992022 106018513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 105993662 106018515 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 105993677 106018513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 106011236 106045070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 106020845 106020940 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 106032071 106340043 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DAOA,DAOA-AS1 chr13 106089130 106089230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 106113786 106114163 Gain and loss Pancreatic cancer SNP array 17952125 DAOA-AS1 chr13 106113786 106114163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAOA-AS1 chr13 106138282 106515980 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 DAOA,DAOA-AS1,LINC00343 chr13 106138282 106515980 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DAOA,DAOA-AS1,LINC00343 chr13 106147320 106147420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAOA-AS1 chr13 106156361 106156461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAOA-AS1 chr13 106209566 106238389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 106218150 106238759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 106218686 106248289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 106238358 106251835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 106252308 106252397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 106313940 106314678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 106313940 106314678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 106314194 106314635 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 106326414 106326514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 106373809 106373909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00343 chr13 106392563 106392908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00343 chr13 106392563 106392908 Gain and loss Pancreatic cancer SNP array 17952125 LINC00343 chr13 106392563 106392908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00343 chr13 106413867 106413967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00343 chr13 106415066 106448745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 106428198 113423000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-991K arrays 21546498 ABHD13,ANKRD10,ARGLU1,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,EFNB2,FAM155A,ING1,IRS2,LIG4,LINC00346,LINC00443,LINC00460,LINC00551,MYO16,MYO16-AS1,RAB20,SOX1,SPACA7,TEX29,TNFSF13B,TUBGCP3 chr13 106483907 106498590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 106509739 106511624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 106555407 106555507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 106564488 106564588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 106571382 106571472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 106618879 107317084 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ARGLU1,EFNB2,LINC00443,LINC00460,LINC00551 chr13 106620319 107317084 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARGLU1,EFNB2,LINC00443,LINC00460,LINC00551 chr13 106620319 107317084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARGLU1,EFNB2,LINC00443,LINC00460,LINC00551 chr13 106620319 107317084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARGLU1,EFNB2,LINC00443,LINC00460,LINC00551 chr13 106707041 106707141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 106722540 106722862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 106771244 106771312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 106771244 106771312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 106771245 106771310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 106793973 107145010 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-858K arrays 21546498 EFNB2,LINC00460 chr13 106832782 106832855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 106944383 106944568 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 106981520 106981597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107000000 115169878 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,EFNB2,F10,F7,FAM155A,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,LINC00443,LINC00460,LINC00551,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TNFSF13B,TUBGCP3,UPF3A chr13 107000000 115169878 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,EFNB2,F10,F7,FAM155A,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,LINC00443,LINC00460,LINC00551,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TNFSF13B,TUBGCP3,UPF3A chr13 107000000 115169878 Deletion Mental retardation array CGH 17124404 ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,EFNB2,F10,F7,FAM155A,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,LINC00443,LINC00460,LINC00551,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TNFSF13B,TUBGCP3,UPF3A chr13 107000000 115169878 Loss Leukemia RQ-PCR 18688285 ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,EFNB2,F10,F7,FAM155A,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,LINC00443,LINC00460,LINC00551,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TNFSF13B,TUBGCP3,UPF3A chr13 107031742 108216355 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARGLU1,EFNB2,FAM155A,LINC00443,LINC00551 chr13 107086380 107086465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107090320 107274703 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARGLU1,EFNB2,LINC00551 chr13 107116571 107608188 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARGLU1,EFNB2,LINC00443,LINC00551 chr13 107123121 107608188 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARGLU1,EFNB2,LINC00443,LINC00551 chr13 107140361 107140461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107169509 107169692 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 EFNB2 chr13 107183258 107183591 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 EFNB2 chr13 107185649 107185730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFNB2 chr13 107190506 109397454 Deletion Mental retardation - 20877625 ABHD13,ARGLU1,FAM155A,LIG4,LINC00443,LINC00551,MYO16,TNFSF13B chr13 107190506 109397454 Deletion Mental retardation FISH Pos 20877625 ABHD13,ARGLU1,FAM155A,LIG4,LINC00443,LINC00551,MYO16,TNFSF13B chr13 107190506 109397454 Deletion Palpebral fissures - 20877625 ABHD13,ARGLU1,FAM155A,LIG4,LINC00443,LINC00551,MYO16,TNFSF13B chr13 107190506 109397454 Deletion retrognathia - 20877625 ABHD13,ARGLU1,FAM155A,LIG4,LINC00443,LINC00551,MYO16,TNFSF13B chr13 107190506 114092980 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,F10,F7,FAM155A,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,LINC00443,LINC00551,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TNFSF13B,TUBGCP3 chr13 107199217 107199317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARGLU1 chr13 107213137 107213501 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 ARGLU1 chr13 107318001 107319000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00443 chr13 107338708 107359369 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 31073446 31207638 Gain and loss Pancreatic cancer SNP array 17952125 LAPTM5,MATN1,MATN1-AS1 chr13 107358530 107359486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 107366316 107366416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107370082 107370182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107393835 107393935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107410787 107410826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107427612 107427680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107464129 107464229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107471848 107505402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 107501387 107502387 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 107521925 107522925 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 107569780 107652035 Gain aortic dissecting aneurysms Array-CGH 22263138 NOT_FOUND chr13 107569780 107652035 Gain Stenocardia MACArray Karyo 65K BAC-chips 21860640 NOT_FOUND chr13 107569780 107652035 Gain Vasospasm MACArray Karyo 65K BAC-chips 21860640 NOT_FOUND chr13 107657792 107668717 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 107657792 107668717 Gain or loss Cancer - 20668451 NOT_FOUND chr13 107657792 107668717 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 107657792 107668717 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 107657792 107668717 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 107657792 107668717 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 107657795 107665131 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 107657795 107668717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107657795 107668717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 107657795 107668717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107663336 107663436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107668764 107684603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 107668764 107684603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107668764 107684603 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 107668764 107684603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107683589 107683689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107712675 108056227 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 FAM155A chr13 107719977 107757366 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 107719977 107757366 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 107719977 107757366 Gain or loss Cancer - 20668451 NOT_FOUND chr13 107719977 107757366 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 107719977 107757366 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 107719977 107757366 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 107719977 107757366 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 107719978 107757366 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 107719978 107757366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107719978 107757366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 107719978 107757366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107731420 107731498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107743101 107751800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 107745018 107749794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 107748192 107748292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107751561 107751680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 107751591 107751679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 107751591 107751679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31077626 31077716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 107802535 114149669 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABHD13,ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM155A,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TMCO3,TNFSF13B,TUBGCP3 chr13 107822119 107822189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr1 31078258 31078338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 107874983 107875133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr13 107930575 107932166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM155A chr13 108039990 113501907 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABHD13,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,FAM155A,ING1,IRS2,LIG4,LINC00346,MYO16,MYO16-AS1,RAB20,SOX1,SPACA7,TEX29,TNFSF13B,TUBGCP3 chr13 108046500 108658356 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 FAM155A chr13 108046500 108658356 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM155A chr13 108046501 108515940 Gain and loss Pancreatic cancer SNP array 17952125 FAM155A chr13 108046501 108658356 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM155A chr13 108046501 108658356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM155A chr13 108046501 108658356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM155A chr13 108060380 114108121 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ABHD13,ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,F10,F7,FAM155A,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TNFSF13B,TUBGCP3 chr13 108064532 108097993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM155A chr13 108065019 108065109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr13 108065191 108065252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM155A chr13 108127879 108155050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM155A chr13 108129107 108161338 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM155A chr13 108138238 108147125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM155A chr13 108159747 108160438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM155A chr13 108159773 108160398 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FAM155A chr13 108193190 108202800 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 FAM155A chr13 108209270 114092980 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD13,ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,F10,F7,FAM155A,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TNFSF13B,TUBGCP3 chr13 108210800 108211323 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 FAM155A chr13 108241000 108241073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr13 108290035 108290125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr13 108298405 108298497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr13 108324012 108324110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM155A chr13 108406231 108406331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr13 108423879 108424078 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 FAM155A chr13 108460984 108461059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr13 108472622 108472722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM155A chr13 108477140 110084607 Amplification Cancer Affymetrix 250K Sty array 20164920 ABHD13,FAM155A,LIG4,MYO16,MYO16-AS1,TNFSF13B chr13 108498646 108499485 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM155A chr13 108575504 108590362 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 108575532 108591725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 108615252 108657185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 108624096 108624147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 108628647 108628747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 108668801 108669005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 108669030 108669267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 108719614 109007551 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABHD13,LIG4,TNFSF13B chr13 108719808 108719984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 108728746 114063831 Loss Developmental delay affymetrix genechip 500K/SNP 6.58 array 21147756 ABHD13,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,F10,F7,GRTP1,ING1,IRS2,LAMP1,LIG4,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TNFSF13B,TUBGCP3 chr13 108848596 108869201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIG4 chr13 108852071 108852171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 108871207 108871258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABHD13 chr13 108881140 108881230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABHD13 chr1 31089257 31089578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 108995301 108995401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 109012530 111268454 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CARKD,COL4A1,COL4A2,COL4A2-AS1,IRS2,MYO16,MYO16-AS1,RAB20 chr13 109086968 109099585 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 109093943 109094043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 109097925 109101863 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 109100000 114142980 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 109100000 114142980 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 109100000 114142980 Copy number Normal - 20680643 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 109100000 114142980 Gain Barrett's adenocarcinoma FISH 18663352 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 109100000 114142980 Gain Breast cancer Array CGH 16608533 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 109100000 114142980 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 109100000 114142980 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss FISH and chromosome banding 20606397 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 109100000 114142980 Loss Follicular lymphoma aCGH 20505157 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr1 31091055 31091145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 109108212 109557712 Amplification Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 MYO16 chr13 109166304 109201140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 109204184 109236915 Amplification Glioblastoma Agilent 244K, Affymetrix SNP6.0 and Illumina 550K 18772890 NOT_FOUND chr13 109204184 109236915 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 109204184 109236915 Copy number Lung cancer - 20668451 NOT_FOUND chr13 109204184 109236915 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 109204184 109236915 Gain or loss Cancer - 20668451 NOT_FOUND chr13 109204184 109236915 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 109204184 109236915 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 109204184 109236915 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 109204184 109236915 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 109204185 109236916 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 109204185 109236916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 109204185 109236916 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 109204185 109236916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 109214001 109218800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 109274784 109274873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109282898 109283336 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 MYO16 chr13 109295962 109296062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109300000 114000000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 109313212 109322580 Loss Normal 244K array 17666407 MYO16 chr13 109341256 109352953 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYO16 chr13 109341256 109353041 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYO16 chr13 109341256 109360886 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYO16 chr13 109365444 109365681 Gain and loss Pancreatic cancer SNP array 17952125 MYO16 chr13 109365444 109365766 Gain and loss Pancreatic cancer SNP array 17952125 MYO16 chr13 109365444 109365772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO16 chr13 109368802 109368902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109421730 109421830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109452699 109452785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109470103 109471611 Loss Normal Birdsuite, version 1.5.2 22087296 MYO16 chr13 109471611 109473200 Loss Normal Birdsuite, version 1.5.2 22087296 MYO16 chr13 109473200 109476776 Loss Normal Birdsuite, version 1.5.2 22087296 MYO16 chr13 109548200 109548499 Gain and loss Pancreatic cancer SNP array 17952125 MYO16 chr13 109548201 109548499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO16 chr13 109574301 114142980 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,C13orf35,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,GRTP1,ING1,IRS2,LAMP1,LINC00346,MCF2L,MCF2L-AS1,MYO16,MYO16-AS1,PCID2,PROZ,RAB20,SOX1,SPACA7,TEX29,TUBGCP3 chr13 10957497 10999311 Copy number Autism exome sequencing 22495311 NOT_FOUND chr13 109599310 109757497 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MYO16 chr13 109599312 109757459 Gain and loss Pancreatic cancer SNP array 17952125 MYO16 chr13 109599312 109757497 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MYO16 chr13 109599312 109757497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO16 chr13 109599312 109757497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO16 chr13 109610493 109610807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO16 chr13 109627692 109673030 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO16 chr13 109672820 109673143 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO16 chr13 109709238 109709338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109741077 109741168 Gain and loss Pancreatic cancer SNP array 17952125 MYO16 chr13 109741077 109741168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO16 chr13 109746383 109746483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109757615 109963375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MYO16,MYO16-AS1 chr13 109757615 109963375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO16,MYO16-AS1 chr13 109757615 109963375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO16,MYO16-AS1 chr13 109757631 109963374 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MYO16,MYO16-AS1 chr13 109757632 109963372 Gain and loss Pancreatic cancer SNP array 17952125 MYO16,MYO16-AS1 chr13 109763946 109764217 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MYO16 chr13 109787510 109787569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109846999 109847099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO16 chr13 109864554 109864652 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 109864554 109864652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 109884507 109944010 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 109931929 109932285 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 109968501 109970500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 109970501 110083000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 109973413 110012072 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 109973420 110012081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 109973420 110012081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 109973420 110012081 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 109973420 110012081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 109974019 111177189 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 COL4A1,COL4A2,COL4A2-AS1,IRS2,RAB20 chr13 109980810 109981095 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr13 110030856 110031167 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 110035335 110078079 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 110052342 110089193 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr13 110065806 110066627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 110065882 110090341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 110065882 110091380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110065882 110091380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110066001 110090341 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 110066001 110091380 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 110074168 110350829 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 NOT_FOUND chr13 110083001 110103500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 110091760 110156464 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 110091760 110156464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 110091760 110156464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110097857 110097908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 110103501 110763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IRS2 chr13 110127773 110128092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 110163084 110171421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 110163322 110171419 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 110163322 110171421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110163322 110171421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110179530 110179613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110199218 110199318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110213022 110213481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110226943 110227043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110240077 110240158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110257962 110258037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110271744 110271868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110279445 110279545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110292835 110292901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110300000 115169878 Deletion Malignant glioma ChIP Assay 17146433 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Gain Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Gain Sudden cardiac death CGH 19188705 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Loss and deletion Multiple myeloma Array CGH 16616336 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Loss Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Loss Mantle cell lymphoma Array CGH 19029149 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110300000 115169878 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADPRHL1,ANKRD10,ARHGEF7,ATP11A,ATP4B,C13orf35,CARKD,CARS2,CDC16,CHAMP1,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,ING1,IRS2,LAMP1,LINC00346,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RAB20,RASA3,SOX1,SPACA7,TEX29,TFDP1,TMCO3,TUBGCP3,UPF3A chr13 110314753 110320617 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 110319644 110320138 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 110319644 110320138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 110328887 110365417 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 110328888 110365417 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 110328888 110365417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110328888 110365417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110328889 110365417 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 110337927 110338026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110357416 110357653 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 110385243 110386957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 110386795 110421132 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IRS2 chr13 110387107 110390132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110424675 110424798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IRS2 chr13 110460034 110604912 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 110463028 110463128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110536570 110563232 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 110545969 110577972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 110558299 110702336 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 110565624 110756082 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 110565783 110756079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 110565783 110756079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110565783 110756079 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 110565783 110756079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110565871 110565970 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr13 110590449 110607412 Loss Normal 244K array 17666407 NOT_FOUND chr13 110625526 110625626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110675758 110720615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 110676320 110676410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110676490 110676590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110709261 110709361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110735111 110735211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110750234 110750334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 110758701 110763400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 110763001 110852500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL4A1 chr13 110766559 110794595 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 110766559 110794595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110766559 110794595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 110771015 110794595 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 110771016 110794595 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 110784179 110784254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 31107951 31138017 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 110826090 110826190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A1 chr13 110852501 110854500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL4A1 chr13 110854501 111849500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD10,ARHGEF7,CARKD,CARS2,COL4A1,COL4A2,COL4A2-AS1,ING1,LINC00346,RAB20 chr13 110872855 111151995 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 COL4A1,COL4A2 chr13 110879643 110879731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A1 chr13 110890800 110890979 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL4A1 chr13 110891758 110891880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL4A1 chr13 110902903 110965422 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 COL4A1,COL4A2 chr13 110911705 110911778 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 COL4A1 chr13 110924820 110924884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A1 chr13 110957062 110957062 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 COL4A1 chr13 110957062 110957062 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 COL4A1 chr1 31110105 31110173 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 111038639 111122956 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COL4A2 chr13 111038639 111122956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL4A2 chr13 111040811 111040890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL4A2 chr13 111049116 111049216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A2 chr13 111053779 111083506 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 COL4A2 chr13 111061395 111061395 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 COL4A2 chr13 111076638 111076803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A2 chr13 111076795 111077047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A2 chr13 111076835 111076935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A2 chr13 111087329 111110279 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COL4A2 chr13 111096968 111109657 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COL4A2 chr13 111096968 111110279 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COL4A2 chr13 111119838 111119960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL4A2 chr13 111160792 111160877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A2 chr13 111269739 111269839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARKD chr13 111314565 111314959 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 CARS2 chr13 111340147 111340237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARS2 chr13 1 114142980 Copy number HIV/AIDS Quantitative real time PCR, CGH 22032296 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 1 114142980 Copy number Normal GenomePlex Whole Genome Amplification Kit 17292767 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 1 114142980 Deletion,amplification Normal Affymetrix 250K SNP array 21412953 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 1 114142980 Indels Normal Affymetrix 6.0 array 21223598 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 1 114142980 Loss Esophageal squamous carcinoma CGH 21637470 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 1 114142980 Loss Glioblastoma multiforme aCGH 21080181 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 1 114142980 Loss Glioblastoma multiforme conventional CGH 21080181 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr1 31114901 31154067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31114901 31154067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 111510362 111510452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 1 115169878 Copy number Prostate cancer Human Genome U133 Plus 2.0 arrays, Affymetrix GCOS software 16705090 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 1 115169878 Loss High-proliferative meningiomas Array CGH 17937814 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 111538289 111538389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD10 chr1 31115501 31162000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 111554014 112582030 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD10,ARHGEF7,TEX29 chr13 111562156 111562250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD10 chr13 111565019 111565098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD10 chr13 111595398 111624692 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 111595398 111630345 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 111621022 111621079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 111638948 111639046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 111662374 111662425 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 111680850 111680945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 111695700 111710656 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 111728359 111728433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 111729778 111729778 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 111739184 111739558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 111754393 111754453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 111754393 111754453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 111755955 111775191 Substitutions and indels small cell lung cancer array-CGH 20016488 ARHGEF7 chr13 111758242 113351493 Gain Prostate cancer Array CGH 18632612 ARHGEF7,ATP11A,C13orf35,SOX1,SPACA7,TEX29,TUBGCP3 chr13 111767404 114142980 Deletion Cancer Affymetrix 250K Sty array 20164920 ADPRHL1,ARHGEF7,ATP11A,C13orf35,CUL4A,DCUN1D2,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ,SOX1,SPACA7,TEX29,TUBGCP3 chr13 111769913 111774021 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ARHGEF7 chr13 111769914 111774021 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF7 chr13 111769914 111774021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF7 chr13 111769914 111774021 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF7 chr13 111769914 111774021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF7 chr13 111772884 111774513 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ARHGEF7 chr13 111780015 112651395 Substitutions and indels small cell lung cancer array-CGH 20016488 ARHGEF7,TEX29 chr13 111849501 111851500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF7 chr13 111851501 112145500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF7,TEX29 chr13 111894903 111895003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF7 chr13 111917262 111917538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF7 chr13 111917677 111917792 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 ARHGEF7 chr13 111955357 111993771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGEF7,TEX29 chr13 111959089 112004990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX29 chr13 111973036 111988990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX29 chr13 111978889 111991874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX29 chr13 111979435 112000920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX29 chr13 111982300 111987437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX29 chr13 111991316 111997393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX29 chr13 111996059 112047008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX29 chr13 111998907 112009433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 112011370 112012860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 112038238 112038332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112042818 112042893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112073788 113215972 Gain small cell lung cancer Real-time Quantitative PCR 17426248 SOX1,SPACA7,TUBGCP3 chr13 112078634 112137004 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112078634 112137004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112078634 112137004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112078652 112137003 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112145501 112149500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 112149186 112191557 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112149501 112195000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 112187327 112290482 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112187327 112290482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112187327 112290482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112195001 112196500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 112195108 112195827 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr13 112196501 112565000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 112216312 112216412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112220117 112220156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112240319 112240384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112264375 112469769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112271934 112272034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112309143 112309222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112309830 114092980 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADPRHL1,ATP11A,C13orf35,CUL4A,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ,SOX1,SPACA7,TUBGCP3 chr13 112325173 112325257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112346360 112346422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112349359 112386812 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112349359 112386812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112349359 112386812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112349359 112386812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112350933 112351012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112373139 112374336 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 112392643 112589483 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 112392644 112589470 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112392644 112589483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112392644 112589483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112424858 112739202 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SOX1 chr13 112447629 113314419 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C13orf35,SOX1,SPACA7,TUBGCP3 chr13 112461756 112843262 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 SOX1 chr13 112467401 112471400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 112487450 112588428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112494484 114149669 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADPRHL1,ATP11A,C13orf35,CUL4A,DCUN1D2,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ,SOX1,SPACA7,TMCO3,TUBGCP3 chr13 112498172 112531502 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 112547492 112548089 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 112559126 112789533 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SOX1 chr13 112559126 112790427 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SOX1 chr13 112561946 112595883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 112562884 112789377 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SOX1 chr13 112562884 112789377 Copy number gain Normal High-resolution SNP genotyping 21211785 SOX1 chr13 112565001 112602000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 112565024 112565079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112568275 112739202 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SOX1 chr13 112575779 112789059 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SOX1 chr13 112575779 112789059 Copy number gain Normal High-resolution SNP genotyping 21211785 SOX1 chr13 112587051 112587168 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 112596693 112802054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX1 chr13 112596693 112802054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX1 chr13 112597208 112597272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 112602001 112655500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 112604508 112802054 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOX1 chr13 112655501 112827000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SOX1 chr13 112656243 112665843 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr13 112670727 113124567 Substitutions and indels small cell lung cancer array-CGH 20016488 SOX1,SPACA7 chr13 112670757 112800864 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SOX1 chr13 112670816 112800861 Gain and loss Pancreatic cancer SNP array 17952125 SOX1 chr13 112680313 112680413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112684777 112811325 Gain and loss Pancreatic cancer SNP array 17952125 SOX1 chr13 112702265 112702329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 112711763 114123908 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ADPRHL1,ATP11A,C13orf35,CUL4A,DCUN1D2,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ,SOX1,SPACA7,TUBGCP3 chr13 112712601 112716500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 112716265 112811579 Gain and loss Pancreatic cancer SNP array 17952125 SOX1 chr13 112727110 112727379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 112728034 112728114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112739429 114142980 Loss Medulloblastoma array-CGH 16783165 ADPRHL1,ATP11A,C13orf35,CUL4A,DCUN1D2,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ,SPACA7,TUBGCP3 chr13 112776695 112776955 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 112778530 112778630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112791477 112791792 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 112794931 112800630 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112794931 112800630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112795711 112804758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 31128007 31128042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112808105 112822996 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 112808106 112822346 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112808106 112822993 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112808106 112822993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112808106 112822993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112808940 112808940 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 112810876 112810977 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 112815484 112815583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112825114 112851842 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112825114 112851842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112825114 112851842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112825133 112851842 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112827001 113048500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPACA7 chr13 112832731 112834369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112837401 112841200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 112838938 112839264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 112847558 112847638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112860968 112874695 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 112860969 112874695 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112860969 112874695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112860969 112874695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112860969 112874695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112879892 112911026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112879892 112911026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112879892 112911026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112879899 112911002 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112879926 112910984 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 112911086 112967393 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 112911151 112967400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112911151 112967400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112911151 112967400 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 112911151 112967400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112941092 112973900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 112956213 113006693 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 112956213 113006693 Gain or loss Cancer - 20668451 NOT_FOUND chr13 112956213 113006693 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 112956213 113006693 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 112956213 113006693 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 112956213 113006693 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 112977266 112977399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112978932 112979965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112991562 112991662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112993634 112993796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 112999470 113025746 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 112999470 113025746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 112999557 113025742 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 113006213 113006313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 113026507 113066464 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPACA7 chr13 113026507 113066464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPACA7 chr13 113026507 113066464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPACA7 chr13 113027161 113057718 Gain and loss Pancreatic cancer SNP array 17952125 SPACA7 chr13 113039048 113039117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPACA7 chr13 113048501 113050000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPACA7 chr13 113048580 113050301 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 SPACA7 chr13 113050001 113103500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPACA7 chr1 31130519 31130791 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 113077676 113078124 Amplification Medulloblastoma Illumina SNP arrays 21163964 SPACA7 chr13 113077873 113078401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPACA7 chr13 113080379 113094269 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SPACA7 chr13 113086430 113259065 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SPACA7,TUBGCP3 chr13 113095900 113129559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 113103501 113140000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TUBGCP3 chr13 113113675 113113775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 113124260 113155840 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TUBGCP3 chr13 113124263 113155753 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TUBGCP3 chr13 113124263 113155753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP3 chr13 113124263 113155753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP3 chr13 113124585 113155840 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP3 chr13 113129643 114142980 Substitutions and indels small cell lung cancer array-CGH 20016488 ADPRHL1,ATP11A,C13orf35,CUL4A,DCUN1D2,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ,TUBGCP3 chr13 113138288 114142980 Copy number Lung cancer paired-end sequencing 18438408 ADPRHL1,ATP11A,C13orf35,CUL4A,DCUN1D2,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ,TUBGCP3 chr13 113140001 113295000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TUBGCP3 chr13 113151497 113151497 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TUBGCP3 chr13 113158134 113193024 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TUBGCP3 chr13 113158135 113193007 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP3 chr13 113158135 113193024 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TUBGCP3 chr13 113158135 113193024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP3 chr13 113158135 113193024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP3 chr13 113171988 113172106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TUBGCP3 chr13 113181231 113181387 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP3 chr13 113181231 113181394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP3 chr13 113183943 113185003 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TUBGCP3 chr13 113193308 113252545 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TUBGCP3 chr13 113193311 113252507 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP3 chr13 113193311 113252543 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TUBGCP3 chr13 113193355 113252543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP3 chr13 113193355 113252543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP3 chr13 113216744 113216961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TUBGCP3 chr13 113262349 113262937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 113266870 113268543 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 113267601 113268052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 113267794 114035836 Gain and loss Pancreatic cancer SNP array 17952125 ATP11A,C13orf35,CUL4A,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ chr13 113287056 113343506 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C13orf35 chr13 113287057 113343500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C13orf35 chr13 113287057 113343500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C13orf35 chr13 113287057 113343500 Gain and loss Pancreatic cancer SNP array 17952125 C13orf35 chr13 113287057 113343500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C13orf35 chr13 113295001 113297000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 113297001 113490500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP11A,C13orf35 chr13 113312676 113312803 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C13orf35 chr13 113314419 113889199 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATP11A,C13orf35,CUL4A,F10,F7,MCF2L,MCF2L-AS1,PCID2,PROZ chr13 113330000 115070000 Gain Breast cancer aCGH 21509527 ADPRHL1,ATP11A,ATP4B,C13orf35,CDC16,CUL4A,DCUN1D2,F10,F7,FAM70B,GAS6,GAS6-AS1,GRK1,GRTP1,LAMP1,LINC00552,LINC00565,LOC100506394,MCF2L,MCF2L-AS1,PCID2,PROZ,RASA3,TFDP1,TMCO3,UPF3A chr13 113345846 113345906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP11A chr13 113351122 113360502 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP11A chr13 113351125 113360502 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP11A chr13 113351125 113360502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP11A chr13 113351125 113360502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP11A chr13 113351185 113360514 Gain and loss Pancreatic cancer SNP array 17952125 ATP11A chr13 113364540 113364640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP11A chr13 113369595 113373975 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP11A chr13 113369595 113373975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP11A chr13 113369597 113373973 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP11A chr13 113369703 113373974 Gain and loss Pancreatic cancer SNP array 17952125 ATP11A chr13 113423000 114142980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-992K arrays 21546498 ADPRHL1,ATP11A,CUL4A,DCUN1D2,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ chr13 113438702 113438774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP11A chr13 113462220 113462308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP11A chr13 113490501 113494000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP11A chr13 113494001 113547000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP11A chr13 113497396 113501832 Gain Normal 244K array 17666407 ATP11A chr13 113520723 113520968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP11A chr13 113520970 113521168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP11A chr13 113525857 113954547 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ATP11A,CUL4A,F10,F7,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ chr13 113525857 113954547 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ATP11A,CUL4A,F10,F7,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ chr13 113530653 113944993 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ATP11A,CUL4A,F10,F7,MCF2L,MCF2L-AS1,PCID2,PROZ chr13 113535940 113536011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP11A chr13 113546899 113590409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 113546912 113590396 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 113546919 113590407 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 113546919 113590407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 113546919 113590407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 113547001 113569500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 113565279 113568764 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr13 113565305 113568877 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 113565305 113568877 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 113567776 113568150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 113569501 113611000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 31135798 31135838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 113586616 113586934 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr13 113586955 113587055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 113599043 113651873 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MCF2L,MCF2L-AS1 chr13 113599046 113651873 Gain and loss Pancreatic cancer SNP array 17952125 MCF2L,MCF2L-AS1 chr13 113599048 113651873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MCF2L,MCF2L-AS1 chr13 113599048 113651873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCF2L,MCF2L-AS1 chr13 113599048 113651873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCF2L,MCF2L-AS1 chr13 113600269 113624839 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MCF2L,MCF2L-AS1 chr13 113607192 113608417 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 113607303 113608382 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 113607766 113607861 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr13 113608995 113609095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 113609967 113610048 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 113611001 113924000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CUL4A,F10,F7,MCF2L,MCF2L-AS1,PCID2,PROZ chr13 113620149 113621419 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 113626951 113627051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCF2L chr13 113633748 113633842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCF2L chr13 113735595 113735695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCF2L chr13 113739103 113739203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCF2L chr13 113761682 113761963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 F7 chr13 113765295 113916197 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CUL4A,F10,F7,PCID2,PROZ chr13 113765295 113916197 Copy number Lung cancer - 20668451 CUL4A,F10,F7,PCID2,PROZ chr13 113765295 113916197 Gain or loss Breast cancer - 20668451 CUL4A,F10,F7,PCID2,PROZ chr13 113765295 113916197 Gain or loss Cancer - 20668451 CUL4A,F10,F7,PCID2,PROZ chr13 113765295 113916197 Gain or loss Lung cancer - 20668451 CUL4A,F10,F7,PCID2,PROZ chr13 113765295 113916197 Gain or loss Ovarian cancer - 20668451 CUL4A,F10,F7,PCID2,PROZ chr13 113765295 113916197 Gain or loss Pancreas cancer - 20668451 CUL4A,F10,F7,PCID2,PROZ chr13 113765295 113916197 Gain or loss Prostate cancer - 20668451 CUL4A,F10,F7,PCID2,PROZ chr13 113765297 113916066 Gain and loss Pancreatic cancer SNP array 17952125 CUL4A,F10,F7,PCID2,PROZ chr13 113765297 113916197 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CUL4A,F10,F7,PCID2,PROZ chr13 113765303 113916197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUL4A,F10,F7,PCID2,PROZ chr13 113765303 113916197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUL4A,F10,F7,PCID2,PROZ chr13 113774515 113774834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 F7 chr13 113782614 113782693 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 F10 chr13 113795051 113818598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 F10,PROZ chr13 113800334 114092980 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADPRHL1,CUL4A,F10,GRTP1,LAMP1,PCID2,PROZ chr13 113813943 113814122 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PROZ chr13 113816424 113817278 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 PROZ chr13 113816493 113816604 Amplification Medulloblastoma Illumina SNP arrays 21163964 PROZ chr13 113843446 113843505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCID2 chr13 113848644 113848744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCID2 chr13 113852999 114018607 Gain and loss Pancreatic cancer SNP array 17952125 CUL4A,GRTP1,LAMP1,PCID2 chr13 113900577 113900650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUL4A chr13 113924001 113968500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAMP1 chr13 113932521 113966963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LAMP1 chr13 113939619 113939985 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr13 113968501 113970500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAMP1 chr13 114008695 114009980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRTP1 chr13 114018464 114056300 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 114018464 114056300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 114018464 114056300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 114018476 114056252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 114058221 114063330 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 114058221 114063330 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr13 114065180 114089363 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADPRHL1 chr13 114065180 114089363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADPRHL1 chr13 114065180 114089363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADPRHL1 chr13 114090223 114090643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADPRHL1 chr13 114098090 114110898 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADPRHL1,DCUN1D2 chr13 114098090 114110898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADPRHL1,DCUN1D2 chr13 114098090 114110898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADPRHL1,DCUN1D2 chr13 114107953 114107953 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr13 114161989 114142980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr13 114251091 114142980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr13 114476840 114476840 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 FAM70B chr13 114476840 114476840 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 FAM70B chr13 114490896 114142980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr13 114502216 114142980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr13 114799850 114142980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr13 114881846 114142980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr13 114882077 114142980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr13 1 16000000 Loss Breast cancer aCGH 21264507 NOT_FOUND chr1 31171924 31172635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 31176940 31311350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAPTM5,MATN1,MATN1-AS1,MIR4420 chr1 31176940 31311350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAPTM5,MATN1,MATN1-AS1,MIR4420 chr1 3118000 5001000 Deletion Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,LOC100133612,LOC284661,LOC728716,LRRC47,MEGF6,MIR551A,PRDM16,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 chr1 3118000 5001000 Deletion Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,LOC100133612,LOC284661,LOC728716,LRRC47,MEGF6,MIR551A,PRDM16,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 chr13 1 18070000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 31181122 31181207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31194551 31194636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MATN1,MATN1-AS1 chr13 1 19708700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD20A9P,LINC00442 chr1 31199430 31199530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MATN1-AS1 chr1 31200000 32688000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 BAI2,CCDC28B,COL16A1,DCDC2B,EIF3I,FABP3,HCRTR1,IQCC,KHDRBS1,KPNA6,LAPTM5,LOC149086,LOC284551,MIR4254,MIR4420,NKAIN1,PEF1,PTP4A2,PUM1,SDC3,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,SPOCD1,TINAGL1,TMEM234,TMEM39B,TXLNA,ZCCHC17 chr13 120004976 120033564 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr1 31202941 32179980 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 COL16A1,FABP3,HCRTR1,LAPTM5,LOC149086,LOC284551,MIR4420,NKAIN1,PEF1,PUM1,SDC3,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,TINAGL1,ZCCHC17 chr1 31213598 31213670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAPTM5 chr13 1 22945560 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ANKRD20A9P,ANKRD26P3,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00424,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 1 23902184 Deletion Cancer Affymetrix 250K Sty array 20164920 ANKRD20A9P,ANKRD26P3,BASP1P1,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00424,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SGCG,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 127090301 114142980 Deletion Glioma mate-paired sequence 20126413 chr1 31282203 31282677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31282531 31282626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 31296306 31296468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31321686 31330093 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 31340421 31340962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31342325 32650020 LOH Normal High-resolution SNP genotyping 21211785 BAI2,COL16A1,FABP3,HCRTR1,KHDRBS1,KPNA6,LOC149086,LOC284551,MIR4254,NKAIN1,PEF1,PTP4A2,PUM1,SDC3,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,SPOCD1,TINAGL1,TMEM39B,TXLNA,ZCCHC17 chr1 31347232 31348424 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SDC3 chr1 31353582 31354056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDC3 chr1 31373063 31396255 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SDC3 chr1 31391233 32025943 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FABP3,LOC149086,LOC284551,NKAIN1,PUM1,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,ZCCHC17 chr1 31401510 31438710 Gain and loss Pancreatic cancer SNP array 17952125 PUM1,SNORD103A,SNORD103B chr13 1 40829685 Amplification Cancer Affymetrix 250K Sty array 20164920 ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG6,CRYL1,CSNK1A1L,DCLK1,EEF1DP3,EFHA1,EXOSC8,FAM123A,FAM48A,FGF9,FLT1,FLT3,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,KL,LATS2,LHFP,LINC00297,LINC00327,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00442,LINC00457,LINC00544,LINC00547,LINC00548,LINC00571,LNX2,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR4305,MIR4499,MIR548F5,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NBEA,NHLRC3,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RFC3,RFXAP,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERTM1,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SMAD9,SNORA27,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,TEX26,TEX26-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TRPC4,TUBA3C,UBL3,UFM1,USP12,USPL1,WASF3,XPO4,ZAR1L,ZDHHC20,ZMYM2,ZMYM5 chr1 3142033 3267870 Gain and loss Pancreatic cancer SNP array 17952125 PRDM16 chr1 31425179 31484986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PUM1,SNORD85 chr1 31425179 31484986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PUM1,SNORD85 chr1 31435129 31444435 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 PUM1,SNORD85 chr1 31438935 31506873 Gain and loss Pancreatic cancer SNP array 17952125 PUM1,SNORD85 chr1 3144423 3144493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM16 chr13 1 4500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 NOT_FOUND chr1 31464189 31464289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PUM1 chr13 1 47708275 Deletion Normal GeneGISTIC 21527027 AKAP11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,HMGB1,HSPH1,HTR2A,IFT88,IL17D,KATNAL1,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,KL,LACC1,LATS2,LCP1,LHFP,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00442,LINC00457,LINC00544,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LNX2,LRCH1,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR320D1,MIR4305,MIR4499,MIR5006,MIR548F5,MIR621,MPHOSPH8,MRP63,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NHLRC3,NUFIP1,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RFC3,RFXAP,RGCC,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERTM1,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TEX26,TEX26-AS1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P5,TPTE2P6,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 1 47708275 Deletion Normal Standard peel-off 21527027 AKAP11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,HMGB1,HSPH1,HTR2A,IFT88,IL17D,KATNAL1,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,KL,LACC1,LATS2,LCP1,LHFP,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00442,LINC00457,LINC00544,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LNX2,LRCH1,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR320D1,MIR4305,MIR4499,MIR5006,MIR548F5,MIR621,MPHOSPH8,MRP63,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NHLRC3,NUFIP1,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RFC3,RFXAP,RGCC,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERTM1,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TEX26,TEX26-AS1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P5,TPTE2P6,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 14771449 14801105 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 14771449 14801105 Gain or loss Cancer - 20668451 NOT_FOUND chr13 14771449 14801105 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 14771449 14801105 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 14771449 14801105 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 14771449 14801105 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 31480444 33677272 LOH Normal - 20944671 ADC,AK2,BAI2,BSDC1,CCDC28B,COL16A1,DCDC2B,EIF3I,FABP3,FAM167B,FNDC5,HCRTR1,HDAC1,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LCK,LOC100128071,LOC149086,LOC284551,MARCKSL1,MIR4254,MTMR9LP,NKAIN1,PEF1,PTP4A2,PUM1,RBBP4,RNF19B,S100PBP,SERINC2,SNRNP40,SPOCD1,SYNC,TINAGL1,TMEM234,TMEM39B,TMEM54,TRIM62,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17 chr1 31492593 31495110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PUM1 chr1 31505004 31542231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PUM1 chr1 31505004 31542231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PUM1 chr1 31507567 31515016 Gain and loss Pancreatic cancer SNP array 17952125 PUM1 chr1 31508918 31509116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PUM1 chr1 31542429 31610370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31542429 31610370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 3154635 3154720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM16 chr13 154705 79702503 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BORA,BRCA2,BTF3P11,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,IRG1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00439,LINC00441,LINC00442,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4499,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UCHL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr1 31555056 31576617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 31556501 31575331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31558895 31582284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31567749 31577221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31570423 31584791 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31571285 31571707 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 315959 317975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 16000000 114142980 Copy number Bladder cancer bi-clustering algorithm 21949216 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Deletion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Deletion Medulloblastoma SNP arrays 21979893 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Deletion Normal - 20616218 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Gain colon cancer comparative genomic hybridization 17210682 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Gain Medulloblastoma SNP arrays 21979893 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Gain or loss Endometrial cancer CGH 22040021 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 In Colorectal cancer - 20709793 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Loss Astrocytoma CGH 17387387 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Loss Breast cancer aCGH 21264507 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Loss Glioblastoma multiforme CGH 17387387 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Loss Glioblastoma multiforme CGH 19960244 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Loss Hepatocellular carcinoma CGH 22174799 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 114142980 Loss Ovarian cancer Affymetrix 20844748 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 16000000 39500000 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,CRYL1,CSNK1A1L,DCLK1,EEF1DP3,EFHA1,EXOSC8,FAM123A,FAM48A,FGF9,FLT1,FLT3,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,KL,LATS2,LINC00297,LINC00327,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00442,LINC00457,LINC00544,LINC00547,LINC00571,LNX2,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR4499,MIR548F5,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NBEA,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PSPC1,RASL11A,RFC3,RFXAP,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERTM1,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SMAD9,SNORA27,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPG20,SPG20OS,STARD13,STARD13-AS2,TEX26,TEX26-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TRPC4,TUBA3C,UBL3,UFM1,USP12,USPL1,WASF3,XPO4,ZAR1L,ZDHHC20,ZMYM2,ZMYM5 chr1 31610687 31618510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31610687 31618510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31629525 31630565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 16300000 19500000 Deletion Malignant glioma ChIP Assay 17146433 ANKRD20A9P chr1 31631305 31645528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31635069 31656665 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NKAIN1 chr1 31639370 31646235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31639470 31642954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31639512 31639618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 31639568 31643574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31653803 31662442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NKAIN1 chr1 31654999 31680111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NKAIN1 chr1 31654999 31680111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NKAIN1 chr1 31658549 31680112 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NKAIN1 chr1 31669832 31699486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NKAIN1 chr1 31676088 31727751 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NKAIN1 chr1 31678430 31727751 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NKAIN1 chr1 31678430 32983184 LOH Normal High-resolution SNP genotyping 21211785 BAI2,BSDC1,CCDC28B,COL16A1,DCDC2B,EIF3I,FABP3,FAM167B,HCRTR1,HDAC1,IQCC,KHDRBS1,KPNA6,LCK,LOC100128071,LOC149086,LOC284551,MARCKSL1,MIR4254,MTMR9LP,NKAIN1,PEF1,PTP4A2,SERINC2,SNRNP40,SPOCD1,TINAGL1,TMEM234,TMEM39B,TSSK3,TXLNA,ZBTB8B,ZCCHC17 chr1 31711206 31722378 Gain and loss Pancreatic cancer SNP array 17952125 NKAIN1 chr1 31733019 31733954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRNP40 chr1 31743006 31743112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRNP40 chr1 31753734 31761807 Gain and loss Pancreatic cancer SNP array 17952125 SNRNP40 chr1 31764561 31779581 Gain and loss Pancreatic cancer SNP array 17952125 SNRNP40,ZCCHC17 chr1 31786941 31838742 Gain and loss Pancreatic cancer SNP array 17952125 FABP3,ZCCHC17 chr13 17900000 115169878 Amplification Colorectal cancer GISTIC software 19359472 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 Copycopy numbernumber neutral LOH Acute myeloid leukemia Array CGH 18379011 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 Copy number Breast cancer - 19287154 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 Copy number Intracranial aneurysm Affymetrix GeneChip Human Mapping 250K StyI Array 19064780 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 Gain Human rectal carcinomas oligonucleotide arrays 16397240 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 LOH Multiple myeloma CGH, Real-Time PCR 17077331 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 Loss Ependymoma CGH 16718352 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 115169878 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17900000 45800000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 AKAP11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG6,CRYL1,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,EXOSC8,FAM123A,FAM216B,FAM48A,FGF9,FLT1,FLT3,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,KBTBD6,KBTBD7,KCTD4,KIAA1704,KL,LACC1,LATS2,LHFP,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00442,LINC00457,LINC00544,LINC00547,LINC00548,LINC00571,LINC00598,LNX2,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR320D1,MIR4305,MIR4499,MIR5006,MIR548F5,MIR621,MPHOSPH8,MRP63,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NHLRC3,NUFIP1,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RFC3,RFXAP,RGCC,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERTM1,SGCG,SHISA2,SKA3,SLC25A15,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TEX26,TEX26-AS1,TNFRSF19,TNFSF11,TPTE2,TPTE2P1,TPTE2P5,TPTE2P6,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,XPO4,ZAR1L,ZDHHC20,ZMYM2,ZMYM5 chr13 17900000 45800000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 AKAP11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG6,CRYL1,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,EXOSC8,FAM123A,FAM216B,FAM48A,FGF9,FLT1,FLT3,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,KBTBD6,KBTBD7,KCTD4,KIAA1704,KL,LACC1,LATS2,LHFP,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00442,LINC00457,LINC00544,LINC00547,LINC00548,LINC00571,LINC00598,LNX2,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR320D1,MIR4305,MIR4499,MIR5006,MIR548F5,MIR621,MPHOSPH8,MRP63,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NHLRC3,NUFIP1,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RFC3,RFXAP,RGCC,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERTM1,SGCG,SHISA2,SKA3,SLC25A15,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TEX26,TEX26-AS1,TNFRSF19,TNFSF11,TPTE2,TPTE2P1,TPTE2P5,TPTE2P6,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,XPO4,ZAR1L,ZDHHC20,ZMYM2,ZMYM5 chr13 17918001 18176736 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 17918001 18354948 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 17924949 18033703 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 17924949 18113961 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 17924949 18122439 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 17924950 20448369 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD20A9P,ANKRD26P3,LINC00421,LINC00442,MPHOSPH8,PSPC1,RNU6-52,TPTE2,TUBA3C,ZMYM5 chr13 17939989 17957578 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 17939989 17957578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 17939989 17957578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 17943628 18082334 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 17943628 18105102 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 17960319 114092980 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 17960319 18515769 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr13 17960319 20630221 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-946K arrays 21546498 ANKRD20A9P,ANKRD26P3,LINC00421,LINC00442,MPHOSPH8,PSPC1,RNU6-52,TPTE2,TUBA3C,ZMYM2,ZMYM5 chr13 17960319 20860207 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD20A9P,ANKRD26P3,GJA3,GJB2,GJB6,LINC00421,LINC00442,MPHOSPH8,PSPC1,RNU6-52,TPTE2,TUBA3C,ZMYM2,ZMYM5 chr13 17960319 21519278 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-980K arrays 21546498 ANKRD20A9P,ANKRD26P3,CRYL1,GJA3,GJB2,GJB6,IFT88,IL17D,LINC00421,LINC00442,MIR4499,MPHOSPH8,N6AMT2,PSPC1,RNU6-52,TPTE2,TUBA3C,XPO4,ZMYM2,ZMYM5 chr13 17960319 21595908 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD20A9P,ANKRD26P3,CRYL1,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00442,MIR4499,MPHOSPH8,N6AMT2,PSPC1,RNU6-52,TPTE2,TUBA3C,XPO4,ZMYM2,ZMYM5 chr13 17960319 26010888 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD20A9P,ANKRD26P3,ATP12A,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00327,LINC00421,LINC00424,LINC00442,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTMR6,N6AMT2,NUPL1,PABPC3,PARP4,PSPC1,RNF17,RNU6-52,SACS,SAP18,SGCG,SKA3,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 17960319 28105352 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD20A9P,ANKRD26P3,ATP12A,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,GJA3,GJB2,GJB6,GPR12,GTF3A,IFT88,IL17D,LATS2,LINC00327,LINC00421,LINC00424,LINC00442,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,N6AMT2,NUPL1,PABPC3,PARP4,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,USP12,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 17960319 31285989 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-932K arrays 21546498 ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,USPL1,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 17960319 49033464 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AKAP11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,HMGB1,HSPH1,HTR2A,IFT88,IL17D,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,KL,LACC1,LATS2,LCP1,LHFP,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00544,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR320D1,MIR4305,MIR4499,MIR5006,MIR548F5,MIR621,MPHOSPH8,MRP63,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RB1,RFC3,RFXAP,RGCC,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERTM1,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1P3,TEX26,TEX26-AS1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P5,TPTE2P6,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 18000000 18533000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 NOT_FOUND chr13 18008630 18176736 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 18041824 18165293 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 18042610 114051465 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 A2LD1,ABCC4,ABHD13,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 18042610 49543165 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AKAP11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CYSLTR2,DCLK1,DGKH,DNAJC15,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,HMGB1,HSPH1,HTR2A,IFT88,IL17D,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,KL,LACC1,LATS2,LCP1,LHFP,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR320D1,MIR4305,MIR4499,MIR5006,MIR548F5,MIR621,MPHOSPH8,MRP63,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RB1,RCBTB2,RFC3,RFXAP,RGCC,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERTM1,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1P3,TEX26,TEX26-AS1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P5,TPTE2P6,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 18070001 18073500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 31807001 31895500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FABP3,SERINC2,ZCCHC17 chr13 18073501 18137000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18081272 18081842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31812899 32779261 LOH Normal High-resolution SNP genotyping 21211785 BAI2,CCDC28B,COL16A1,DCDC2B,EIF3I,FABP3,FAM167B,HCRTR1,HDAC1,IQCC,KHDRBS1,KPNA6,LCK,LOC149086,LOC284551,MIR4254,MTMR9LP,PEF1,PTP4A2,SERINC2,SPOCD1,TINAGL1,TMEM234,TMEM39B,TXLNA,ZCCHC17 chr13 18137001 18139500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18137375 18139361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18137500 18139368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18139501 18215500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 31814700 31825872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC17 chr1 31814700 31825872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC17 chr13 18152634 18153840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18152788 18153819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18169143 18169647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18169143 18169647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18184856 18300730 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr13 18196421 19389385 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 18196711 18197527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18198846 18199554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18205859 18206571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18206220 18207036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18213870 18214858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18215501 18218500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18215509 18781886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18218501 18239500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18225570 18267045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 18236422 18269728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 18239501 18283500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18256103 18278205 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 18265519 18286700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 18279419 18280158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18281970 18282188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18288632 18298916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18288873 18298916 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 18306542 18344109 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr13 18310141 18310237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18321079 18757670 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 18330922 18458886 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr13 18331634 18356265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 18341325 18341431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18341326 18341431 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18341326 18341431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18352194 18352297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18352194 18352297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18364918 18365103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18371648 19697001 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD20A9P,LINC00442 chr13 18374797 18375098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 18377501 18379000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18397782 106691271 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A2LD1,ABCC4,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,INTS6,IPO5,IRG1,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX21,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 18397782 114117460 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 18400000 105800000 Loss Gastrointestinal stromal cancer array CGH 16982739 A2LD1,ABCC4,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,INTS6,IPO5,IRG1,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX21,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 18400000 109100000 Loss Breast cancer Array CGH 16608533 A2LD1,ABCC4,ABHD13,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARGLU1,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,INTS6,IPO5,IRG1,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX21,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 18400000 114142980 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 18400000 114142980 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 18400000 22200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD20A9P,ANKRD26P3,CRYL1,EFHA1,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 22200000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 ANKRD20A9P,ANKRD26P3,CRYL1,EFHA1,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 22200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD20A9P,ANKRD26P3,CRYL1,EFHA1,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 26700000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 ANKRD20A9P,ANKRD26P3,ATP12A,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00327,LINC00421,LINC00424,LINC00442,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTMR6,N6AMT2,NUPL1,PABPC3,PARP4,PSPC1,RNF17,RNU6-52,SACS,SAP18,SGCG,SHISA2,SKA3,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 31100000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 31100000 Gain Cancer array-based techniques 21183584 ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 31100000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 31100000 Loss Glioblastoma multiforme conventional CGH 21080181 ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 31100000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 32900000 Loss Glioblastoma multiforme aCGH 21080181 ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EEF1DP3,EFHA1,FAM123A,FGF9,FLT1,FLT3,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00398,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MEDAG,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TEX26,TEX26-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,USPL1,WASF3,XPO4,ZAR1L,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 72100000 Copy number Squamous cell cancer aCGH 20885788 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00348,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4499,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 72100000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00348,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4499,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 18400000 72100000 Loss Thyroid cancer FISH 19087340 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00348,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4499,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 18415501 18419000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18418895 18534858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18419001 18438000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18425192 70742696 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4499,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 18425650 114037803 Copy number Normal - 22034057 A2LD1,ABCC4,ABHD13,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD20A9P,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 18431130 18534815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18487627 18491476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18487627 18491476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18498138 18504764 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 18498138 18504764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18519060 18535941 Gain Normal 244K array 17666407 NOT_FOUND chr13 18519501 18535000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18535001 18588500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18546106 19534700 LOH Normal High-resolution SNP genotyping 21211785 ANKRD20A9P chr1 31855873 31865799 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 31855873 31865799 Gain or loss Cancer - 20668451 NOT_FOUND chr1 31855873 31865799 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 31855873 31865799 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 31855873 31865799 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 31855873 31865799 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 31855888 31870706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31855888 31870706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18560624 18560717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18560624 18560717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18588501 18590500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18598539 18611751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18609538 18610547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18609559 18610496 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 18616647 18631399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 31861812 31898729 Gain and loss Pancreatic cancer SNP array 17952125 SERINC2 chr13 18622001 18634000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18623694 18624447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18624707 18643334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18634001 18658500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18645914 18653950 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 18645922 18653936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18646003 18653936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18657362 18659644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 18657362 18659644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18657362 18659644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18657450 18659466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18667453 18668956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 18671379 18683421 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 18673777 18699572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18673777 18699572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31868055 31883064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERINC2 chr1 31868055 31883064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERINC2 chr13 18693812 19534700 LOH Normal High-resolution SNP genotyping 21211785 ANKRD20A9P chr13 18762733 18816965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18776729 18777766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18776729 18777766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18817001 18818500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18818501 18958500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18821276 18880102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18825156 18825924 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 18854576 18855251 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 18854594 18855212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18883371 18888328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18895017 19008902 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 18895017 19008902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18895017 19008902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 18895202 18975374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 31890435 31942507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERINC2 chr1 31890435 31942507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERINC2 chr13 18928311 24403479 Substitutions and indels small cell lung cancer array-CGH 20016488 ANKRD20A9P,ANKRD26P3,BASP1P1,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00327,LINC00421,LINC00424,LINC00442,MIPEP,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SACS,SAP18,SGCG,SKA3,TNFRSF19,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 18930538 18930858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31895501 32039000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC149086,LOC284551,SERINC2 chr13 18958501 18960000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 18958766 22340011 Copy number Lung cancer paired-end sequencing 18438408 ANKRD20A9P,ANKRD26P3,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr1 31897535 31897600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERINC2 chr1 31899334 31900334 Loss Chordoma References 21215367 SERINC2 chr13 18996690 19029226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 19024711 19042428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19024712 19042427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19029353 23389883 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD20A9P,ANKRD26P3,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00424,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 19031501 19034000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 31903170 33533559 LOH Normal High-resolution SNP genotyping 21211785 AK2,BAI2,BSDC1,CCDC28B,COL16A1,DCDC2B,EIF3I,FAM167B,FNDC5,HCRTR1,HDAC1,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LCK,LOC100128071,LOC149086,LOC284551,MARCKSL1,MIR4254,MTMR9LP,PEF1,PTP4A2,RBBP4,RNF19B,S100PBP,SERINC2,SPOCD1,SYNC,TINAGL1,TMEM234,TMEM39B,TMEM54,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS chr13 19032153 19033409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19035729 19037040 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19036240 19037041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19105828 19145582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19105879 19144640 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr13 19105880 19144638 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 19105880 19144638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19105880 19144638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31911330 37194190 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADC,ADPRHL2,AK2,BAI2,BSDC1,C1orf212,C1orf216,C1orf94,CCDC28B,CLSPN,COL16A1,COL8A2,CSF3R,CSMD2,DCDC2B,DLGAP3,EIF2C1,EIF2C3,EIF2C4,EIF3I,FAM167B,FAM176B,FNDC5,GJA4,GJB3,GJB4,GJB5,HCRTR1,HDAC1,HMGB4,HPCA,IQCC,KHDRBS1,KIAA0319L,KIAA1522,KPNA6,LCK,LOC100128071,LOC149086,LOC284551,LOC402779,LOC653160,LSM10,MAP7D1,MARCKSL1,MIR3605,MIR4254,MRPS15,MTMR9LP,NCDN,OSCP1,PEF1,PHC2,PSMB2,PTP4A2,RBBP4,RNF19B,S100PBP,SFPQ,SH3D21,SPOCD1,STK40,SYNC,TEKT2,TFAP2E,THRAP3,TINAGL1,TMEM234,TMEM39B,TMEM54,TRAPPC3,TRIM62,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZSCAN20 chr13 19134385 19166615 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 19140499 19516499 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ANKRD20A9P chr13 19145071 19145197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19146896 19255052 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19146896 19255083 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 19146896 19255083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19146896 19255083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19166779 19166961 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 19166779 19166961 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19175008 19255083 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 19198237 22523922 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.12 20877625 ANKRD20A9P,ANKRD26P3,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00424,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 19209115 19209398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19209115 19209405 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19209117 19209394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 31925118 31950716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19254966 19420048 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 ANKRD20A9P chr1 31928626 33466044 LOH Normal High-resolution SNP genotyping 21211785 BAI2,BSDC1,CCDC28B,COL16A1,DCDC2B,EIF3I,FAM167B,FNDC5,HCRTR1,HDAC1,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LCK,LOC100128071,LOC149086,LOC284551,MARCKSL1,MIR4254,MTMR9LP,PEF1,PTP4A2,RBBP4,RNF19B,S100PBP,SPOCD1,SYNC,TINAGL1,TMEM234,TMEM39B,TMEM54,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS chr1 319289 322106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19290261 19290759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19295622 19335773 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 19295622 19335773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19295622 19335773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19309605 19335664 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19347327 19347421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19347327 19347421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19363397 19367459 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 31939774 33179642 LOH Normal High-resolution SNP genotyping 21211785 BAI2,BSDC1,CCDC28B,COL16A1,DCDC2B,EIF3I,FAM167B,HCRTR1,HDAC1,IQCC,KHDRBS1,KPNA6,LCK,LOC100128071,LOC149086,LOC284551,MARCKSL1,MIR4254,MTMR9LP,PEF1,PTP4A2,RBBP4,SPOCD1,SYNC,TINAGL1,TMEM234,TMEM39B,TSSK3,TXLNA,ZBTB8A,ZBTB8B,ZBTB8OS chr1 31940315 31941315 Gain Chordoma References 21215367 NOT_FOUND chr13 19430809 19558939 Copy number Lung cancer - 20668451 ANKRD20A9P chr13 19430809 19558939 Gain or loss Breast cancer - 20668451 ANKRD20A9P chr13 19430809 19558939 Gain or loss Cancer - 20668451 ANKRD20A9P chr13 19430809 19558939 Gain or loss Lung cancer - 20668451 ANKRD20A9P chr13 19430809 19558939 Gain or loss Ovarian cancer - 20668451 ANKRD20A9P chr13 19430809 19558939 Gain or loss Pancreas cancer - 20668451 ANKRD20A9P chr13 19430809 19558939 Gain or loss Prostate cancer - 20668451 ANKRD20A9P chr13 19430810 19561253 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD20A9P chr13 19430810 19561253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A9P chr13 19430810 19561253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A9P chr13 19430817 19492093 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD20A9P chr13 19450134 19450224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 19474666 20459519 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ANKRD26P3,LINC00421,LINC00442,MPHOSPH8,PSPC1,RNU6-52,TPTE2,TUBA3C,ZMYM5 chr13 19500000 115169878 Loss Breast cancer Microarray-based CGH 17133270 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 19500000 115169878 Loss Myoepithelioma Array CGH 18604193 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ANKRD26P3,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP12A,ATP4B,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDK8,CDX2,CENPJ,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFHA1,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM123A,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FGF9,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GJA3,GJB2,GJB6,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR12,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,IFT88,IL17D,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LATS2,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00421,LINC00423,LINC00424,LINC00426,LINC00433,LINC00439,LINC00441,LINC00442,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2276,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4499,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,OXGR1,PABPC3,PAN3,PAN3-AS1,PARP4,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFRSF19,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZIC2,ZIC5,ZMYM2,ZMYM5 chr13 19500000 23300000 Gain Mental retardation Array CGH 17847001 ANKRD26P3,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00424,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 23300000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ANKRD26P3,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00421,LINC00424,LINC00442,MIPEPP3,MIR4499,MPHOSPH8,MRP63,N6AMT2,PSPC1,RNU6-52,SAP18,SKA3,TPTE2,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 25500000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ANKRD26P3,ATP12A,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CENPJ,CRYL1,EFHA1,FGF9,GJA3,GJB2,GJB6,IFT88,IL17D,LATS2,LINC00327,LINC00421,LINC00424,LINC00442,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,N6AMT2,PARP4,PSPC1,RNF17,RNU6-52,SACS,SAP18,SGCG,SKA3,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2,TPTE2P6,TUBA3C,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 32200000 Deletion Malignant glioma ChIP Assay 17146433 ALOX5AP,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00398,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MEDAG,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TEX26,TEX26-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,USPL1,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 32200000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ALOX5AP,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00398,LINC00421,LINC00424,LINC00426,LINC00442,LINC00544,LNX2,MEDAG,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TEX26,TEX26-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TUBA3C,UBL3,USP12,USPL1,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 50900000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 AKAP11,ALG5,ALOX5AP,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDADC1,CDK8,CDX2,CENPJ,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DLEU1,DLEU2,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,HMGB1,HSPH1,HTR2A,IFT88,IL17D,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LATS2,LCP1,LHFP,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR15A,MIR16-1,MIR2276,MIR320D1,MIR3613,MIR4305,MIR4499,MIR5006,MIR548F5,MIR621,MLNR,MPHOSPH8,MRP63,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1P3,TEX26,TEX26-AS1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 55300000 Copy number Endometrioid adenocarcinoma CGH 16974079 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR320D1,MIR3613,MIR4305,MIR4499,MIR4703,MIR5006,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH8,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 55300000 Gain Basal cell lymphoma Array CGH 16317097 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR320D1,MIR3613,MIR4305,MIR4499,MIR4703,MIR5006,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH8,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 55300000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR320D1,MIR3613,MIR4305,MIR4499,MIR4703,MIR5006,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH8,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 55300000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00441,LINC00442,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR320D1,MIR3613,MIR4305,MIR4499,MIR4703,MIR5006,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH8,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 19500000 87700000 Loss Breast cancer Microarray-based CGH 17133270 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BORA,BRCA2,BTF3P11,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,IRG1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00366,LINC00381,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00439,LINC00441,LINC00442,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4499,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UCHL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 19515656 19517189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19542390 19544276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19548110 19549778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 19610394 19633183 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 19610397 19633183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 19610397 19633183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19610397 19633183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19614120 19615427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19627842 19690082 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr13 19651117 19651601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19651117 19651601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19651123 19651625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 31965304 32002235 Gain or loss Breast cancer - 20668451 LOC149086,LOC284551 chr1 31965304 32002235 Gain or loss Cancer - 20668451 LOC149086,LOC284551 chr1 31965304 32002235 Gain or loss Lung cancer - 20668451 LOC149086,LOC284551 chr1 31965304 32002235 Gain or loss Ovarian cancer - 20668451 LOC149086,LOC284551 chr1 31965304 32002235 Gain or loss Pancreas cancer - 20668451 LOC149086,LOC284551 chr1 31965304 32002235 Gain or loss Prostate cancer - 20668451 LOC149086,LOC284551 chr1 31965305 32002528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC149086,LOC284551 chr1 31965305 32002528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC149086,LOC284551 chr13 19659605 19665114 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 19659605 19665114 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 19659605 19665114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19659605 19665114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19659614 19665037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19669893 19669993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 19682018 21033042 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD26P3,CRYL1,GJA3,GJB2,GJB6,LINC00421,MIR4499,MPHOSPH8,PSPC1,RNU6-52,TPTE2,TUBA3C,ZMYM2,ZMYM5 chr13 19694100 19704534 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 19694102 19703646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 19694102 19704456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19694102 19704456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 19694102 19704534 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 19695328 20002424 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ANKRD26P3,LINC00421,RNU6-52,TPTE2,TUBA3C chr13 19708701 19885800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD26P3,RNU6-52,TUBA3C chr13 19710000 19950000 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 ANKRD26P3,LINC00421,RNU6-52,TUBA3C chr13 19723482 19726792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 19837344 19968698 Deletion Non-syndromic sensorineural hearing loss arrayCGH 20236118 ANKRD26P3,LINC00421 chr13 19840861 19869050 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ANKRD26P3 chr13 19863373 19863668 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ANKRD26P3 chr13 19875809 19998012 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD26P3,LINC00421,TPTE2 chr13 19875809 19998012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD26P3,LINC00421,TPTE2 chr13 19875809 19998012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD26P3,LINC00421,TPTE2 chr13 19875813 19997996 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD26P3,LINC00421,TPTE2 chr13 19885801 21353200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD26P3,CRYL1,GJA3,GJB2,GJB6,IFT88,IL17D,LINC00421,MIR4499,MPHOSPH8,N6AMT2,PSPC1,TPTE2,XPO4,ZMYM2,ZMYM5 chr13 19900000 31700000 Gain Acute lymphoblastic leukemia - 21339820 ALOX5AP,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,CRYL1,EFHA1,FAM123A,FGF9,FLT1,FLT3,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,IFT88,IL17D,KATNAL1,LATS2,LINC00297,LINC00327,LINC00398,LINC00421,LINC00424,LINC00426,LINC00544,LNX2,MEDAG,MIPEP,MIPEPP3,MIR2276,MIR4499,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N6AMT2,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,PSPC1,RASL11A,RNF17,RNF6,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TEX26,TEX26-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,UBL3,USP12,USPL1,WASF3,XPO4,ZDHHC20,ZMYM2,ZMYM5 chr1 31991002 31991102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 19918915 20122478 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD26P3,LINC00421,TPTE2 chr13 19927436 20141614 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 TPTE2 chr13 19977826 20669903 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-875K arrays 21546498 MPHOSPH8,PSPC1,TPTE2,ZMYM2,ZMYM5 chr13 20020509 20020651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPTE2 chr13 20022683 20022756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPTE2 chr13 20038585 20163314 Gain and loss Pancreatic cancer SNP array 17952125 TPTE2 chr13 20039207 20163576 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TPTE2 chr13 20039207 20163576 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TPTE2 chr13 20039208 20163572 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TPTE2 chr13 20039208 20163572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPTE2 chr13 20039208 20163572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPTE2 chr13 20079407 20080270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPTE2 chr13 20079521 20079832 Gain and loss Pancreatic cancer SNP array 17952125 TPTE2 chr13 20084300 20084474 Gain and loss Pancreatic cancer SNP array 17952125 TPTE2 chr13 20084300 20084477 Gain and loss Pancreatic cancer SNP array 17952125 TPTE2 chr13 20084300 20084477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPTE2 chr13 20103150 20110588 Gain Normal 244K array 17666407 TPTE2 chr13 20175479 20195236 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 20175479 20195236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20175479 20195236 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 20175479 20195236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20175481 20195237 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr13 20184771 20185261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20192697 20192847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 20200870 20246088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MPHOSPH8 chr13 20200870 20246088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPHOSPH8 chr13 20200870 20246088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPHOSPH8 chr13 20201071 20246057 Gain and loss Pancreatic cancer SNP array 17952125 MPHOSPH8 chr13 20219174 20220196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPHOSPH8 chr13 20219281 20220190 Gain and loss Pancreatic cancer SNP array 17952125 MPHOSPH8 chr13 20225387 20252018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MPHOSPH8,PSPC1 chr13 20249467 20374913 Deletion Liver carcinoma array CGH 19041743 PSPC1 chr13 20249467 20374913 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PSPC1 chr13 20249469 20374949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSPC1 chr13 20249469 20374949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSPC1 chr13 20251014 20374949 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSPC1 chr13 20251269 20374876 Gain and loss Pancreatic cancer SNP array 17952125 PSPC1 chr1 32028610 32054210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TINAGL1 chr1 32028610 32054210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TINAGL1 chr13 20290521 20305791 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PSPC1 chr1 32032043 32081219 Loss Normal 244K array 17666407 TINAGL1 chr13 20384068 20385006 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 32039001 32069500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TINAGL1 chr13 20392802 20392905 Loss Normal 244K array 17666407 NOT_FOUND chr13 20393803 20395372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32041115 32073048 Gain and loss Pancreatic cancer SNP array 17952125 TINAGL1 chr13 20420433 20421738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM5 chr13 20428318 20428582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM5 chr13 20433449 20434334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM5 chr13 20433487 20434337 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM5 chr13 20445175 20533722 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZMYM2 chr13 20445175 20533722 Gain or loss Breast cancer - 20668451 ZMYM2 chr13 20445175 20533722 Gain or loss Cancer - 20668451 ZMYM2 chr13 20445175 20533722 Gain or loss Lung cancer - 20668451 ZMYM2 chr13 20445175 20533722 Gain or loss Ovarian cancer - 20668451 ZMYM2 chr13 20445175 20533722 Gain or loss Pancreas cancer - 20668451 ZMYM2 chr13 20445175 20533722 Gain or loss Prostate cancer - 20668451 ZMYM2 chr13 20445178 20533676 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZMYM2 chr13 20445178 20533676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20445178 20533676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20446577 20533654 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM2 chr13 20452217 20556867 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ZMYM2 chr1 32048267 32049838 Gain and loss Pancreatic cancer SNP array 17952125 TINAGL1 chr13 20510665 20510806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 20510668 20510806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 20510668 20510806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 3205529 3206931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRDM16 chr13 20566454 20566853 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM2 chr13 20566454 20566853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20575142 20576510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20575142 20576510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20578351 20580060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYM2 chr13 20612024 20612096 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM2 chr13 20612025 20612096 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM2 chr13 20612684 20620976 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZMYM2 chr13 20612685 20620974 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZMYM2 chr13 20612685 20620974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20612685 20620974 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM2 chr13 20612685 20620974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20625231 20627991 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZMYM2 chr13 20625734 20648710 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZMYM2 chr13 20625734 20648710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20625734 20648710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20625734 20648741 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZMYM2 chr13 20625735 20648710 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM2 chr13 20626349 20627811 Loss Normal 244K array 17666407 ZMYM2 chr13 20627230 20627330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMYM2 chr13 20627290 20627831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYM2 chr13 20627951 20630060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYM2 chr13 20628902 20629223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYM2 chr13 20630262 20632037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYM2 chr13 20634015 20640126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYM2 chr13 20640486 20640645 Loss Normal 244K array 17666407 ZMYM2 chr13 20640539 20644477 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYM2 chr13 20644643 20648512 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYM2 chr1 3206483 3206970 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 PRDM16 chr13 20648372 20651203 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZMYM2 chr13 20648372 20651203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20648372 20651203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM2 chr13 20648372 20651218 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM2 chr13 20667746 20667846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 20709372 20709472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 20711714 20713316 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GJA3 chr13 20732694 20733722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GJA3 chr13 20732697 20733722 Gain and loss Pancreatic cancer SNP array 17952125 GJA3 chr13 20770398 20778512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20791295 20792941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20791788 20792914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 20792001 20793500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 20793501 20798000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GJB6 chr13 20798001 20800500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GJB6 chr13 20808501 20826000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 20826048 20931509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20826048 20931509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20830512 20831450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20841929 20842038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20841950 20842036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 20841950 20842036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20846461 20847329 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 20846461 20847329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 20846461 20847329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20848510 20931423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 20848510 20931509 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 20852288 20856401 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 32087360 33979251 LOH Normal High-resolution SNP genotyping 21211785 ADC,AK2,BAI2,BSDC1,CCDC28B,COL16A1,DCDC2B,EIF3I,FAM167B,FNDC5,HCRTR1,HDAC1,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LCK,LOC100128071,MARCKSL1,MIR3605,MIR4254,MTMR9LP,PEF1,PHC2,PTP4A2,RBBP4,RNF19B,S100PBP,SPOCD1,SYNC,TMEM234,TMEM39B,TMEM54,TRIM62,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS,ZNF362,ZSCAN20 chr13 20907299 22673454 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CRYL1,EFHA1,FGF9,IFT88,IL17D,LATS2,LINC00424,MIPEPP3,MIR4499,MRP63,N6AMT2,SAP18,SKA3,XPO4,ZDHHC20 chr13 20930305 20930405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 20933208 20933270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 20955973 20956313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 20964647 20975977 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 20964838 21076314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRYL1,MIR4499 chr13 20964838 21076314 Gain and loss Pancreatic cancer SNP array 17952125 CRYL1,MIR4499 chr13 20964842 21076309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRYL1,MIR4499 chr13 20964842 21076309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYL1,MIR4499 chr13 20967689 20967789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 20979263 21023652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRYL1,MIR4499 chr13 20982933 20982993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRYL1 chr13 20983995 21013922 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CRYL1,MIR4499 chr13 20983995 21019291 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CRYL1,MIR4499 chr13 20989153 21013922 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CRYL1,MIR4499 chr13 20989153 21019291 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CRYL1,MIR4499 chr1 32100000 51400000 Copy number Kartagener syndrome reference 16639409 ADC,ADPRHL2,AGBL4,AK2,AKIRIN1,AKR1A1,ARTN,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf94,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC28B,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,CMPK1,COL16A1,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DCDC2B,DEM1,DLGAP3,DMAP1,DMBX1,DMRTA2,DNALI1,DPH2,EBNA1BP2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,ELAVL4,ELOVL1,EPHA10,ERI3,ERMAP,FAAH,FAF1,FAM167B,FAM176B,FAM183A,FHL3,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GPBP1L1,GRIK3,GUCA2A,GUCA2B,HDAC1,HECTD3,HEYL,HIVEP3,HMGB4,HPCA,HPCAL4,HPDL,HYI,INPP5B,IPO13,IPP,IQCC,KCNQ4,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIF2C,KLF17,KNCN,KPNA6,LCK,LEPRE1,LOC100128071,LOC100129924,LOC100130557,LOC339442,LOC400752,LOC402779,LOC653160,LOC728431,LOC729041,LRRC41,LSM10,LURAP1,MACF1,MANEAL,MAP7D1,MARCKSL1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3605,MIR3659,MIR4254,MIR4255,MIR5581,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPS15,MTF1,MTMR9LP,MUTYH,MYCBP,MYCL1,NASP,NCDN,NDUFS5,NFYC,NSUN4,NT5C1A,OSCP1,OXCT2,PABPC4,PDZK1IP1,PDZK1IP1-AS1,PEF1,PHC2,PIK3R3,PLK3,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PSMB2,PTCH2,PTP4A2,PTPRF,RAD54L,RBBP4,RHBDL2,RIMKLA,RIMS3,RLF,RNF19B,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,S100PBP,SCMH1,SF3A3,SFPQ,SH3D21,SKINTL,SLC2A1,SLC2A1-AS1,SLC5A9,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,SPATA6,SPOCD1,ST3GAL3,STIL,STK40,SYNC,SZT2,TAL1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TMEM234,TMEM39B,TMEM53,TMEM54,TMEM69,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIT1,TSPAN1,TSSK3,TXLNA,UQCRH,UROD,UTP11L,WDR65,YARS,YBX1,YRDC,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF642,ZNF643,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr13 21002829 21003462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYL1 chr13 21020530 21029004 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 CRYL1 chr13 21023443 21023549 Gain and loss Pancreatic cancer SNP array 17952125 CRYL1 chr13 21023443 21023549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYL1 chr13 21033977 21068454 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRYL1 chr13 21072228 21072328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRYL1 chr13 21075758 21120413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRYL1 chr13 21100552 21101154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 21100552 21101154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 21103581 21103681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 21141501 21147500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFT88 chr13 21143215 21173905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT88 chr13 21143874 21174186 Gain or loss Breast cancer - 20668451 IFT88 chr13 21143874 21174186 Gain or loss Cancer - 20668451 IFT88 chr13 21143874 21174186 Gain or loss Lung cancer - 20668451 IFT88 chr13 21143874 21174186 Gain or loss Ovarian cancer - 20668451 IFT88 chr13 21143874 21174186 Gain or loss Pancreas cancer - 20668451 IFT88 chr13 21143874 21174186 Gain or loss Prostate cancer - 20668451 IFT88 chr13 21143875 21174187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IFT88 chr13 21143875 21174187 Gain and loss Pancreatic cancer SNP array 17952125 IFT88 chr13 21206981 21241142 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IFT88 chr13 21215478 21215588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IFT88 chr13 21234556 21234656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT88 chr13 21252723 21252823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT88 chr13 21262676 21262982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT88 chr13 21262677 21262984 Gain and loss Pancreatic cancer SNP array 17952125 IFT88 chr13 21262677 21262984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT88 chr13 21334349 21334449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 N6AMT2 chr13 21353201 21631500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LATS2,XPO4 chr13 21374078 21374228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPO4 chr13 21381196 21399496 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 XPO4 chr13 21390437 21423831 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 XPO4 chr13 21421517 21421848 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XPO4 chr13 21437167 21643202 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LATS2,XPO4 chr13 21455060 21455393 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XPO4 chr1 32146300 32146385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL16A1 chr1 32146380 32176575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL16A1 chr1 32146380 32176575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL16A1 chr13 21472677 21472770 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XPO4 chr1 32148576 32195543 Gain and loss Pancreatic cancer SNP array 17952125 BAI2,COL16A1 chr13 21491001 21497000 Loss Normal TaqMan assays 20972442 NOT_FOUND chr1 32151761 32153332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL16A1 chr13 21548578 21635655 Copy number Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 LATS2 chr13 21571302 21571683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LATS2 chr13 21580800 22533847 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-981K arrays 21546498 EFHA1,FGF9,LATS2,LINC00424,MIPEPP3,MRP63,SAP18,SKA3,ZDHHC20 chr13 21585258 21585477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LATS2 chr13 21615490 28790143 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,EFHA1,FAM123A,FGF9,FLT3,GPR12,GSX1,GTF3A,LATS2,LINC00327,LINC00424,LNX2,MIPEP,MIPEPP3,MIR2276,MRP63,MTIF3,MTMR6,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,PRHOXNB,RASL11A,RNF17,RNF6,RPL21,RPL21P28,SACS,SAP18,SGCG,SHISA2,SKA3,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2P1,TPTE2P6,USP12,WASF3,ZDHHC20 chr13 21620425 21620525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LATS2 chr13 21631501 21732700 Copy number Normal ReadDepth: A Parallel R Package 21305028 LATS2,SAP18,SKA3 chr13 21632742 21632842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LATS2 chr13 21646556 21663219 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 21702214 21702246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32178489 32178589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 21798512 21835083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 21894626 21894770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIPEPP3 chr13 21894765 21894845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIPEPP3 chr13 21894792 21894996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIPEPP3 chr13 21953209 21953515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIPEPP3,ZDHHC20 chr13 21959547 22502166 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EFHA1,FGF9,LINC00424,MIPEPP3,ZDHHC20 chr13 21994827 22004855 Gain Normal Birdsuite, version 1.5.2 22087296 ZDHHC20 chr1 32200000 39600000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADC,ADPRHL2,AK2,AKIRIN1,BAI2,BSDC1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CCDC28B,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DCDC2B,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EIF3I,EPHA10,FAM167B,FAM176B,FHL3,FNDC5,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,HDAC1,HMGB4,HPCA,INPP5B,IQCC,KHDRBS1,KIAA0319L,KIAA1522,KPNA6,LCK,LOC100128071,LOC339442,LOC402779,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MARCKSL1,MEAF6,MIR3605,MIR3659,MIR4254,MIR4255,MIR5581,MRPS15,MTF1,MTMR9LP,MYCBP,NCDN,NDUFS5,OSCP1,PHC2,POU3F1,PSMB2,PTP4A2,RBBP4,RHBDL2,RNF19B,RRAGC,RSPO1,S100PBP,SF3A3,SFPQ,SH3D21,SNIP1,SPOCD1,STK40,SYNC,TEKT2,TFAP2E,THRAP3,TMEM234,TMEM39B,TMEM54,TRAPPC3,TRIM62,TSSK3,TXLNA,UTP11L,YARS,YRDC,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZSCAN20 chr1 32200000 39600000 Copy number Squamous cell cancer aCGH 20885788 ADC,ADPRHL2,AK2,AKIRIN1,BAI2,BSDC1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CCDC28B,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DCDC2B,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EIF3I,EPHA10,FAM167B,FAM176B,FHL3,FNDC5,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,HDAC1,HMGB4,HPCA,INPP5B,IQCC,KHDRBS1,KIAA0319L,KIAA1522,KPNA6,LCK,LOC100128071,LOC339442,LOC402779,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MARCKSL1,MEAF6,MIR3605,MIR3659,MIR4254,MIR4255,MIR5581,MRPS15,MTF1,MTMR9LP,MYCBP,NCDN,NDUFS5,OSCP1,PHC2,POU3F1,PSMB2,PTP4A2,RBBP4,RHBDL2,RNF19B,RRAGC,RSPO1,S100PBP,SF3A3,SFPQ,SH3D21,SNIP1,SPOCD1,STK40,SYNC,TEKT2,TFAP2E,THRAP3,TMEM234,TMEM39B,TMEM54,TRAPPC3,TRIM62,TSSK3,TXLNA,UTP11L,YARS,YRDC,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZNF362,ZSCAN20 chr13 22053477 22066086 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 22053477 22067050 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EFHA1 chr1 32206725 32237557 Gain and loss Pancreatic cancer SNP array 17952125 BAI2,MIR4254 chr13 22082586 22082686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFHA1 chr1 32213773 32214042 Gain and loss Pancreatic cancer SNP array 17952125 BAI2 chr1 32214179 32214391 Gain and loss Pancreatic cancer SNP array 17952125 BAI2 chr13 22153141 24201255 Duplication Obesity Illumina SNP array 20622171 BASP1P1,EFHA1,FGF9,LINC00327,LINC00424,SACS,SGCG,TNFRSF19 chr13 22168162 22168713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFHA1 chr13 22168162 22168713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFHA1 chr13 22176878 22178345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFHA1 chr13 22189755 22189850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22200000 24400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BASP1P1,FGF9,LINC00327,LINC00424,MIPEP,SACS,SGCG,TNFRSF19 chr13 22200000 24400000 Copy number Normal - 21701786 BASP1P1,FGF9,LINC00327,LINC00424,MIPEP,SACS,SGCG,TNFRSF19 chr13 22200000 88800000 Loss Glioblastoma multiforme aCGH 21080181 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BORA,BRCA2,BTF3P11,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,IRG1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00366,LINC00381,LINC00398,LINC00423,LINC00424,LINC00426,LINC00439,LINC00441,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4500,MIR4500HG,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF219,RNF6,RPL21,RPL21P28,RXFP2,SACS,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UCHL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 22204300 22229742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 32221830 32224443 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BAI2,MIR4254 chr1 32221830 32224443 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 BAI2,MIR4254 chr13 22223233 22224926 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 22223532 22225212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 22268741 22268825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF9 chr13 22275284 22275363 Gain and loss Pancreatic cancer SNP array 17952125 FGF9 chr13 22275284 22275363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF9 chr13 22275435 22275787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF9 chr13 22302874 22302974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22309165 22310019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22322240 22322700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22328470 22328558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 22333050 22903196 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-947K arrays 21546498 LINC00424 chr13 22334432 22334527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22351264 22351427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 22351264 22351427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22357301 22452624 Copy number Lung cancer paired-end sequencing 18438408 LINC00424 chr13 22369480 22370144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22387790 22388662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22405001 22455500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00424 chr1 32242205 32254236 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr13 22422682 23809680 Gain Developmental delay affymetrix genechip 500K/SNP 6.52 array 21147756 BASP1P1,LINC00424,SGCG chr13 22423295 22423395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32242750 32307867 Gain and loss Pancreatic cancer SNP array 17952125 SPOCD1 chr13 22431215 22476097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00424 chr13 22443541 22451553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00424 chr13 22443593 22443597 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 22443597 22451518 Loss Normal Birdsuite, version 1.5.2 22087296 LINC00424 chr13 22449994 22450136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00424 chr13 22451518 22451522 Loss Normal Birdsuite, version 1.5.2 22087296 LINC00424 chr13 22451522 22454441 Loss Normal Birdsuite, version 1.5.2 22087296 LINC00424 chr13 22455660 22455984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 22467831 40971491 Copy number Lung cancer paired-end sequencing 18438408 ALG5,ALOX5AP,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG6,CSNK1A1L,DCLK1,EEF1DP3,EXOSC8,FAM123A,FAM48A,FLT1,FLT3,FREM2,FRY,GPR12,GSX1,GTF3A,HMGB1,HSPH1,KATNAL1,KL,LHFP,LINC00297,LINC00327,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00457,LINC00544,LINC00547,LINC00548,LINC00571,LINC00598,LNX2,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIR2276,MIR4305,MIR548F5,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NBEA,NHLRC3,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,RASL11A,RFC3,RFXAP,RNF17,RNF6,RPL21,RPL21P28,RXFP2,SACS,SERTM1,SGCG,SHISA2,SLC46A3,SLC7A1,SMAD9,SNORA27,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,TEX26,TEX26-AS1,TNFRSF19,TPTE2P1,TPTE2P6,TRPC4,UBL3,UFM1,USP12,USPL1,WASF3,ZAR1L chr13 22489672 22489757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22489800 22489975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32252077 32299037 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SPOCD1 chr1 32252078 32282059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPOCD1 chr1 32252078 32282059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPOCD1 chr13 22527013 22536224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 22527176 22536182 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr13 22527176 22536209 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr13 22528901 22536900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 22529624 22535471 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 22530396 22530569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22530435 22535303 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 22533847 26855316 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-982K arrays 21546498 ATP12A,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CENPJ,FAM123A,LINC00327,MIPEP,MIR2276,MTMR6,NUPL1,PABPC3,PARP4,RNF17,RNF6,SACS,SGCG,SHISA2,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2P1,TPTE2P6 chr13 22536202 31430096 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.11 20877625 ALOX5AP,ATP12A,ATP5EP2,ATP8A2,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CDK8,CDX2,CENPJ,FAM123A,FLT1,FLT3,GPR12,GSX1,GTF3A,HMGB1,KATNAL1,LINC00297,LINC00327,LINC00398,LINC00426,LINC00544,LNX2,MIPEP,MIR2276,MTIF3,MTMR6,MTUS2,MTUS2-AS1,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDX1,POLR1D,POMP,PRHOXNB,RASL11A,RNF17,RNF6,RPL21,RPL21P28,SACS,SGCG,SHISA2,SLC46A3,SLC7A1,SNORA27,SNORD102,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2P1,TPTE2P6,UBL3,USP12,USPL1,WASF3 chr13 22601270 22830133 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 22606313 22607394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22607504 22607549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3226203 3226303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM16 chr13 22623863 22624116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 22624725 22624825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22624727 22624825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 22653091 22797304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 22653091 22797304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22653091 22797304 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 22653091 22797304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22715659 22719323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22739645 22741289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32276212 33384207 LOH Normal High-resolution SNP genotyping 21211785 BSDC1,CCDC28B,DCDC2B,EIF3I,FAM167B,FNDC5,HDAC1,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LCK,LOC100128071,MARCKSL1,MTMR9LP,PTP4A2,RBBP4,S100PBP,SPOCD1,SYNC,TMEM234,TMEM39B,TMEM54,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS chr13 22793690 22793790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22800964 22905841 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 22800965 22847682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 22800965 22883652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22800965 22883652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22800967 22840626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 22845562 22846155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 22892001 22894000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 22897902 22898002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22941611 22941711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22944997 22945081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 22955641 22955972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 22967354 22967660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 23033381 23033470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 23042723 23148231 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 23042723 23148231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 23042723 23148232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23042723 23148232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23055670 23055702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32311109 32341049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32311109 32341049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23114191 23160175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 32314380 32332978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 32317267 32317536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32317673 32317885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32318564 32326763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 23202327 23361559 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 23202329 23361559 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 23202329 23361559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23202329 23361559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 23202329 23361559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23220243 23221901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 23238073 23238243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23269134 23269222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 23300000 25500000 Deletion Spastic ataxia of charlevoix-saguenay Array CGH 18398442 ATP12A,BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CENPJ,LINC00327,MIPEP,MIR2276,PARP4,RNF17,SACS,SGCG,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2P6 chr13 23326454 23326554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32335327 32340070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 23361026 23364241 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 23361027 23364242 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 23361028 23364237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23361028 23364237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23361591 23364241 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 23363237 23374794 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 23363238 23374794 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 23363238 23374794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23363238 23374794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23379423 23421454 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 23379423 23421454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23379423 23421454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32340365 32343381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 23411696 23418921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 32341606 32376383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTP4A2 chr13 23418501 23426000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 23451838 23776048 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 BASP1P1,SGCG chr13 23458678 23458765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32346231 32414756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTP4A2 chr1 32346231 32414756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTP4A2 chr1 32349172 32357042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 23503800 23515611 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 23503800 23516291 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 23547781 25828554 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP12A,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CENPJ,FAM123A,LINC00327,MIPEP,MIR2276,MTMR6,PABPC3,PARP4,RNF17,SACS,SGCG,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2P1,TPTE2P6 chr1 32355244 34974906 Copy number Lung cancer paired-end sequencing 18438408 ADC,AK2,BSDC1,C1orf94,CCDC28B,CSMD2,DCDC2B,EIF3I,FAM167B,FNDC5,HDAC1,HMGB4,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LCK,LOC100128071,LOC402779,MARCKSL1,MIR3605,MTMR9LP,PHC2,PTP4A2,RBBP4,RNF19B,S100PBP,SYNC,TMEM234,TMEM39B,TMEM54,TRIM62,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS,ZNF362,ZSCAN20 chr1 32355496 32355596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32357105 32366297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 23594204 23595953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23598616 25421683 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP12A,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,LINC00327,MIPEP,MIR2276,PARP4,RNF17,SACS,SGCG,SPATA13,SPATA13-AS1,TNFRSF19,TPTE2P6 chr13 23608955 23609268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 23632860 23779212 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SGCG chr13 23632861 23696936 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 23632861 23696936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 23632861 23794661 Gain and loss Pancreatic cancer SNP array 17952125 SGCG chr13 23632887 23779204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SGCG chr13 23632887 23779204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGCG chr13 23632887 23779204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGCG chr13 23663000 23663103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32366352 32375484 Gain and loss Pancreatic cancer SNP array 17952125 PTP4A2 chr13 23694956 23794673 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SGCG chr1 3237264 3272344 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRDM16 chr13 23779304 23794673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGCG chr13 23779304 23794673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGCG chr13 23781715 23794669 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SGCG chr13 23781715 23794669 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SGCG chr13 23800349 23801210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGCG chr13 23800349 23801210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGCG chr1 32381927 32383549 Gain and loss Pancreatic cancer SNP array 17952125 PTP4A2 chr13 23829501 23835000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SGCG chr13 23835001 23857000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SGCG chr13 23857001 23865500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SGCG chr1 32386025 32420856 Gain and loss Pancreatic cancer SNP array 17952125 PTP4A2 chr13 23872841 23873167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGCG chr13 23893070 23984948 Gain and loss Pancreatic cancer SNP array 17952125 SACS,SGCG chr13 23893075 23984948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SACS,SGCG chr13 23893075 23984948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SACS,SGCG chr13 23893075 23984948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SACS,SGCG chr13 23921937 23937665 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 SACS chr13 23927295 23939187 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SACS chr13 23927376 23939187 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SACS chr13 23987573 23999328 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SACS chr13 23988156 23999328 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SACS chr13 23988536 23999328 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SACS chr13 23988536 24009397 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SACS chr13 23988536 24010376 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SACS chr1 32400000 34600000 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 ADC,AK2,BSDC1,CCDC28B,CSMD2,DCDC2B,EIF3I,FAM167B,FNDC5,HDAC1,HMGB4,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LCK,LOC100128071,LOC402779,MARCKSL1,MIR3605,MTMR9LP,PHC2,PTP4A2,RBBP4,RNF19B,S100PBP,SYNC,TMEM234,TMEM39B,TMEM54,TRIM62,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS,ZNF362,ZSCAN20 chr1 32400000 34600000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADC,AK2,BSDC1,CCDC28B,CSMD2,DCDC2B,EIF3I,FAM167B,FNDC5,HDAC1,HMGB4,HPCA,IQCC,KHDRBS1,KIAA1522,KPNA6,LCK,LOC100128071,LOC402779,MARCKSL1,MIR3605,MTMR9LP,PHC2,PTP4A2,RBBP4,RNF19B,S100PBP,SYNC,TMEM234,TMEM39B,TMEM54,TRIM62,TSSK3,TXLNA,YARS,ZBTB8A,ZBTB8B,ZBTB8OS,ZNF362,ZSCAN20 chr13 24008572 24008672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 24011501 24014000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 24014001 24212000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00327,TNFRSF19 chr13 24038675 24038761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 24038981 24042866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24052345 24069810 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LINC00327 chr13 24052346 24069808 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00327 chr13 24052346 24069808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00327 chr13 24052346 24069808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00327 chr13 24057098 24085960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00327 chr13 24057476 24111621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00327 chr13 24058670 24075071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00327 chr13 24081217 24081313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24085829 24098727 Loss or gain Normal 244K array 17666407 NOT_FOUND chr13 24132159 24132608 Loss Normal 244K array 17666407 NOT_FOUND chr13 24152695 24183917 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF19 chr13 24152695 24183918 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNFRSF19 chr13 24152695 24183918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF19 chr13 24152695 24183918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF19 chr13 24168547 24168883 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TNFRSF19 chr1 32417501 32605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KHDRBS1,KPNA6,TMEM39B chr13 24175694 24175803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF19 chr13 24175696 24175803 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF19 chr13 24176540 24176926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF19 chr1 32417874 32436473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32417874 32436473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24207492 24207863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TNFRSF19 chr13 24212001 24220000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TNFRSF19 chr13 24217405 24218032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF19 chr13 24222795 24224309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF19 chr13 24231705 24544152 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C1QTNF9B,C1QTNF9B-AS1,MIPEP,TNFRSF19 chr13 24236301 24352056 Gain and loss Pancreatic cancer SNP array 17952125 MIPEP,TNFRSF19 chr13 24236301 24352059 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIPEP,TNFRSF19 chr13 24236301 24352059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIPEP,TNFRSF19 chr13 24236301 24352059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIPEP,TNFRSF19 chr13 24248474 24248574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNFRSF19 chr1 32426801 32468317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 24270935 24271100 Loss Normal 244K array 17666407 NOT_FOUND chr13 24312790 24312885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIPEP chr13 24354411 24395085 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MIPEP chr13 24354412 24395085 Copy number Autism exome sequencing 22495311 MIPEP chr13 24354416 24395085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIPEP chr13 24354416 24395085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIPEP chr13 24355172 24395018 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIPEP chr13 24355172 24395018 Gain and loss Pancreatic cancer SNP array 17952125 MIPEP chr13 24380865 24380965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIPEP chr1 32438789 32443578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32438789 32443578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24396815 24440625 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIPEP chr13 24400000 26700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP12A,ATP8A2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CENPJ,FAM123A,MIPEP,MIR2276,MTMR6,NUPL1,PABPC3,PARP4,RNF17,SHISA2,SPATA13,SPATA13-AS1,TPTE2P1,TPTE2P6 chr13 24400000 26700000 Gain Barrett's adenocarcinoma FISH 18663352 ATP12A,ATP8A2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CENPJ,FAM123A,MIPEP,MIR2276,MTMR6,NUPL1,PABPC3,PARP4,RNF17,SHISA2,SPATA13,SPATA13-AS1,TPTE2P1,TPTE2P6 chr13 24405457 24440610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIPEP chr13 24407384 24419899 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIPEP chr13 24407384 24424357 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIPEP chr13 24407846 24413343 Loss Normal Birdsuite, version 1.5.2 22087296 MIPEP chr13 24410475 24458871 Substitutions and indels small cell lung cancer array-CGH 20016488 MIPEP chr13 24415000 24454021 Duplication Non-syndromic sensorineural hearing loss References 19212409 MIPEP chr13 24415713 24416636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIPEP chr13 24420209 24464918 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF9B-AS1,MIPEP chr1 32443859 32446875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32443859 32446875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24460715 24461063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIPEP chr13 24460715 24461063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIPEP chr13 24464535 62503323 Substitutions and indels small cell lung cancer array-CGH 20016488 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,B3GALTL,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF6,RPL21,RPL21P28,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SHISA2,SIAH3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 24467064 24478620 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1QTNF9B chr13 24470906 24487205 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1QTNF9B chr13 24470906 24487995 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1QTNF9B chr1 32447282 32454384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32447282 32454384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24489541 24489675 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 24490001 24491500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 32452666 32460536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32452666 32460536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24543187 24543505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 24568275 24570704 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 24568276 24570705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 24568276 24570705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24568276 24570705 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 24568276 24570705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24573435 24573526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32459771 32469792 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr13 24598626 24598709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32460558 32469792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32460558 32469792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24613674 24614015 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 24619017 24619336 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 24633822 24644426 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 24633822 24644426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24633822 24644426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24640671 24643857 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 24641255 24644305 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 24654689 24654764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 24676111 24682233 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 24678187 24678640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32468534 32470927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 32470101 32478420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24701318 24701418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32470274 32470374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 24718340 24759704 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MIR2276,SPATA13 chr13 24718669 24718753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24719372 24759627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR2276,SPATA13 chr13 24719372 24759627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR2276,SPATA13 chr13 24719372 24759704 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR2276,SPATA13 chr13 24719372 24759704 Gain and loss Pancreatic cancer SNP array 17952125 MIR2276,SPATA13 chr13 24723053 24724039 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 24773665 24814561 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SPATA13 chr13 24773666 24814561 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPATA13 chr13 24773666 24814561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATA13 chr13 24773666 24814561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA13 chr13 24773769 24813056 Gain and loss Pancreatic cancer SNP array 17952125 SPATA13 chr13 24780049 24780049 Copy number Prostate cancer Illumina GA II sequencer 21307934 SPATA13 chr13 24814517 24814591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA13 chr13 24837937 24838293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA13 chr13 24844208 25493420 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr13 24844208 25493420 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr13 24844208 25493420 Duplication or deletion Attention deficit hyperactivity disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr13 24844208 25493420 Duplication or deletion Chronic motor tic disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr13 24844208 25493420 Duplication or deletion Schizophrenia FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr13 24844209 25492996 Gain and loss Pancreatic cancer SNP array 17952125 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr13 24844209 25497989 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr13 24844209 25497989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr13 24844209 25497989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP12A,C1QTNF9,CENPJ,PARP4,RNF17,SPATA13,TPTE2P6 chr1 32485405 32487046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KHDRBS1 chr1 32485405 32487046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KHDRBS1 chr1 32489426 32524353 Gain or loss Breast cancer - 20668451 KHDRBS1 chr1 32489426 32524353 Gain or loss Cancer - 20668451 KHDRBS1 chr1 32489426 32524353 Gain or loss Lung cancer - 20668451 KHDRBS1 chr1 32489426 32524353 Gain or loss Ovarian cancer - 20668451 KHDRBS1 chr1 32489426 32524353 Gain or loss Pancreas cancer - 20668451 KHDRBS1 chr1 32489426 32524353 Gain or loss Prostate cancer - 20668451 KHDRBS1 chr1 32489427 32524353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KHDRBS1 chr1 32489427 32524353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KHDRBS1 chr13 24931124 24931156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32496891 32499001 Gain and loss Pancreatic cancer SNP array 17952125 KHDRBS1 chr13 24989257 24989363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 24989257 24989363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 24989258 24989363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 32499274 32499374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KHDRBS1 chr1 32499800 32529127 Gain and loss Pancreatic cancer SNP array 17952125 KHDRBS1 chr13 25086701 25086740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARP4 chr13 25108823 25124911 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 3252130 3252238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRDM16 chr13 25275327 25296360 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP12A chr13 25282598 25285742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP12A chr13 25282998 25311098 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP12A chr1 32530294 32571811 Gain or loss Breast cancer - 20668451 TMEM39B chr1 32530294 32571811 Gain or loss Cancer - 20668451 TMEM39B chr1 32530294 32571811 Gain or loss Lung cancer - 20668451 TMEM39B chr1 32530294 32571811 Gain or loss Ovarian cancer - 20668451 TMEM39B chr1 32530294 32571811 Gain or loss Pancreas cancer - 20668451 TMEM39B chr1 32530294 32571811 Gain or loss Prostate cancer - 20668451 TMEM39B chr1 32530295 32571811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM39B chr1 32530295 32571811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM39B chr13 25305190 25362382 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 RNF17 chr13 25310283 25310383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 25322692 26155688 Loss Developmental delay affymetrix genechip 500K/SNP 6.53 array 21147756 ATP8A2,CENPJ,FAM123A,MTMR6,NUPL1,PABPC3,RNF17,TPTE2P1 chr13 25335388 25335805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 25335388 25335805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 25340061 25353095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF17 chr13 25340061 25353095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF17 chr13 25347368 25347881 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF17 chr13 25350422 25350679 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF17 chr1 32536872 32537665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 25400000 38500000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ALG5,ALOX5AP,ATP5EP2,ATP8A2,B3GALTL,BRCA2,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,CSNK1A1L,DCLK1,EEF1DP3,EXOSC8,FAM123A,FAM48A,FLT1,FLT3,FRY,GPR12,GSX1,GTF3A,HMGB1,HSPH1,KATNAL1,KL,LINC00297,LINC00398,LINC00423,LINC00426,LINC00457,LINC00544,LINC00547,LNX2,MAB21L1,MEDAG,MINOS1P1,MIR548F5,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NBEA,NUPL1,PABPC3,PAN3,PAN3-AS1,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,RASL11A,RFC3,RFXAP,RNF17,RNF6,RPL21,RPL21P28,RXFP2,SERTM1,SHISA2,SLC46A3,SLC7A1,SMAD9,SNORA27,SNORD102,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,TEX26,TEX26-AS1,TPTE2P1,TRPC4,UBL3,USP12,USPL1,WASF3,ZAR1L chr13 25416662 25416894 Gain and loss Pancreatic cancer SNP array 17952125 RNF17 chr13 25416662 25416894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF17 chr13 25422842 25422959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF17 chr13 25422849 25422959 Gain and loss Pancreatic cancer SNP array 17952125 RNF17 chr13 25422856 25422959 Gain and loss Pancreatic cancer SNP array 17952125 RNF17 chr13 25500000 27800000 Gain Congenital anomalies of the kidney and urinary tract Real-Time PCR 18794900 ATP8A2,CDK8,FAM123A,GPR12,MTMR6,NUPL1,PABPC3,RNF6,SHISA2,TPTE2P1,USP12,WASF3 chr13 25500000 32200000 Loss Hodgkin's lymphoma Array CGH 18179710 ALOX5AP,ATP5EP2,ATP8A2,B3GALTL,CDK8,CDX2,FAM123A,FLT1,FLT3,GPR12,GSX1,GTF3A,HMGB1,HSPH1,KATNAL1,LINC00297,LINC00398,LINC00426,LINC00544,LNX2,MEDAG,MTIF3,MTMR6,MTUS2,MTUS2-AS1,NUPL1,PABPC3,PAN3,PAN3-AS1,PDX1,POLR1D,POMP,PRHOXNB,RASL11A,RNF6,RPL21,RPL21P28,SHISA2,SLC46A3,SLC7A1,SNORA27,SNORD102,TEX26,TEX26-AS1,TPTE2P1,UBL3,USP12,USPL1,WASF3 chr13 25500000 45200000 Loss Prostate cancer Array CGH 16573809 AKAP11,ALG5,ALOX5AP,ATP5EP2,ATP8A2,B3GALTL,BRCA2,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,COG6,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,ELF1,ENOX1,EPSTI1,EXOSC8,FAM123A,FAM216B,FAM48A,FLT1,FLT3,FOXO1,FREM2,FRY,GPR12,GSX1,GTF3A,HMGB1,HSPH1,KATNAL1,KBTBD6,KBTBD7,KL,LACC1,LHFP,LINC00284,LINC00297,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00457,LINC00544,LINC00547,LINC00548,LINC00571,LINC00598,LNX2,MAB21L1,MEDAG,MINOS1P1,MIR320D1,MIR4305,MIR5006,MIR548F5,MIR621,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NHLRC3,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,RASL11A,RFC3,RFXAP,RGCC,RNF6,RPL21,RPL21P28,RXFP2,SERP2,SERTM1,SHISA2,SLC25A15,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORD102,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TEX26,TEX26-AS1,TNFSF11,TPTE2P1,TPTE2P5,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,ZAR1L chr13 25501490 28272326 LOH Normal High-resolution SNP genotyping 21211785 ATP8A2,CDK8,FAM123A,GPR12,GTF3A,LNX2,MTIF3,MTMR6,NUPL1,PABPC3,POLR1D,RASL11A,RNF6,RPL21,RPL21P28,SHISA2,SNORA27,SNORD102,TPTE2P1,USP12,WASF3 chr13 25502125 29912078 LOH Normal High-resolution SNP genotyping 21211785 ATP5EP2,ATP8A2,CDK8,CDX2,FAM123A,FLT1,FLT3,GPR12,GSX1,GTF3A,LNX2,MTIF3,MTMR6,MTUS2,NUPL1,PABPC3,PAN3,PAN3-AS1,PDX1,POLR1D,POMP,PRHOXNB,RASL11A,RNF6,RPL21,RPL21P28,SHISA2,SLC46A3,SNORA27,SNORD102,TPTE2P1,USP12,WASF3 chr13 25516734 25523198 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TPTE2P1 chr13 25516734 25523198 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TPTE2P1 chr13 25516735 25523198 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TPTE2P1 chr13 25516735 25523198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPTE2P1 chr13 25516735 25523198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPTE2P1 chr13 25518582 25523169 Gain and loss Pancreatic cancer SNP array 17952125 TPTE2P1 chr13 25567707 25567829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 25567828 25567987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 25589686 25591102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 25604253 25694508 Gain and loss Pancreatic cancer SNP array 17952125 PABPC3 chr13 25604569 25694508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PABPC3 chr13 25604569 25694508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PABPC3 chr13 25604569 25694508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PABPC3 chr13 25657858 25671385 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PABPC3 chr13 25659382 25878590 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM123A,MTMR6,NUPL1,PABPC3 chr13 25684904 25694508 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 25706350 25709266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 25706492 25706592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32572028 32574421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KPNA6 chr1 32572028 32574421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KPNA6 chr13 25726755 25876569 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM123A,MTMR6,NUPL1 chr13 25726755 25876569 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 FAM123A,MTMR6,NUPL1 chr13 25726755 25876569 Gain Liver carcinoma array CGH 19041743 FAM123A,MTMR6,NUPL1 chr13 25726756 25876569 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM123A,MTMR6,NUPL1 chr13 25726756 25876569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM123A,MTMR6,NUPL1 chr13 25726756 25876569 Gain and loss Pancreatic cancer SNP array 17952125 FAM123A,MTMR6,NUPL1 chr13 25726756 25876569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM123A,MTMR6,NUPL1 chr13 25743063 25743111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM123A chr13 25823718 25823812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTMR6 chr13 25831500 25831590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTMR6 chr13 25898592 26065378 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP8A2,NUPL1 chr1 32592530 32592829 Gain and loss Pancreatic cancer SNP array 17952125 KPNA6 chr13 25936326 25950101 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ATP8A2 chr13 25946166 25950408 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ATP8A2 chr13 25946701 25951700 Deletion Glioma mate-paired sequence 20126413 ATP8A2 chr13 25948042 25950186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP8A2 chr13 25970000 28870000 Gain Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 ATP5EP2,ATP8A2,CDK8,CDX2,FLT3,GPR12,GSX1,GTF3A,LNX2,MTIF3,PAN3,PAN3-AS1,PDX1,POLR1D,PRHOXNB,RASL11A,RNF6,RPL21,RPL21P28,SHISA2,SNORA27,SNORD102,USP12,WASF3 chr1 32600385 32602495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KPNA6 chr1 32600385 32602495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KPNA6 chr13 26029839 26161082 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP8A2 chr13 26029840 26161063 Gain and loss Pancreatic cancer SNP array 17952125 ATP8A2 chr13 26029840 26161080 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP8A2 chr13 26029840 26161080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2 chr13 26029840 26161080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2 chr1 32603376 32632614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KPNA6 chr1 32603376 32632614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KPNA6 chr13 26049023 26049776 Gain and loss Pancreatic cancer SNP array 17952125 ATP8A2 chr13 26049023 26049812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2 chr1 32605319 32671222 Gain and loss Pancreatic cancer SNP array 17952125 CCDC28B,KPNA6,TXLNA chr13 26066675 26072204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP8A2 chr13 26097422 27429385 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP8A2,CDK8,GPR12,RNF6,SHISA2,WASF3 chr13 26159373 26865841 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP8A2,CDK8,RNF6,SHISA2 chr13 26166501 26170000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP8A2 chr13 26169342 26204533 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP8A2 chr13 26192545 26192635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26226315 26272038 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP8A2 chr13 26230447 26232427 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP8A2 chr13 26230447 26232922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2 chr13 26230447 26232922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2 chr13 26230493 26232920 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP8A2 chr13 26230960 26231964 Gain and loss Pancreatic cancer SNP array 17952125 ATP8A2 chr13 26256202 26256302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26312597 26313919 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ATP8A2 chr13 26316707 26316807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26323586 26323681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26334278 26341317 Amplification or deletion Cancer Array CGH 17440070 ATP8A2 chr13 26362228 26362312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26375752 26472703 Amplification or deletion Cancer Array CGH 17440070 ATP8A2 chr13 26377499 26377998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2 chr1 3263971 3266319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRDM16 chr1 32640297 32641303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KPNA6 chr13 26416039 26416139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26417957 26764372 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ATP8A2,SHISA2 chr13 26445541 26445621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26445652 26445752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26449680 26449926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2 chr13 26481377 26481477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26485077 26485177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26489688 26489990 Gain and loss Pancreatic cancer SNP array 17952125 ATP8A2 chr13 26489691 26490046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2 chr13 26505514 26505584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8A2 chr13 26513923 26544346 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP8A2 chr13 26514906 26537673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP8A2 chr13 26538293 26643881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP8A2,SHISA2 chr13 26538293 26643881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2,SHISA2 chr13 26538293 26643881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8A2,SHISA2 chr13 26541420 26588733 Gain and loss Pancreatic cancer SNP array 17952125 ATP8A2 chr1 32661402 32664977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TXLNA chr13 26627847 26627947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32665770 32665870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 26697703 26697782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 26700000 77800000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP5EP2,ATP7B,ATXN8OS,B3GALTL,BORA,BRCA2,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,IRG1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTIF3,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PAN3,PAN3-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF6,RPL21,RPL21P28,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UCHL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,ZAR1L,ZC3H13 chr1 32671217 32671307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCC chr13 26723692 26728705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 26723692 26728705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 26723692 26728705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 26723706 26728700 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 26727201 26727272 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 26727201 26727272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 26727538 26727663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 26727538 26727663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32674121 32735478 Gain and loss Pancreatic cancer SNP array 17952125 DCDC2B,EIF3I,FAM167B,IQCC,LCK,MTMR9LP,TMEM234 chr13 26742463 26745827 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 26742463 26745827 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 26742463 26745827 Gain or loss Cancer - 20668451 NOT_FOUND chr13 26742463 26745827 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 26742463 26745827 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 26742463 26745827 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 26742463 26745827 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 26742464 26745827 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 26742464 26745827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 26742464 26745827 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 26742464 26745827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 26759820 26760158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 32677895 32678213 Copy number Normal Paralogue Ratio Test systems 17175532 DCDC2B chr13 26792150 26792296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF6 chr13 26802306 26802406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 26806177 26806240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 26815824 26815881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 26815824 26815881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 26816116 26816263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 26817288 26817640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 26855316 56230188 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-983K arrays 21546498 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP5EP2,ATP7B,B3GALTL,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTIF3,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PAN3,PAN3-AS1,PCDH8,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RPL21,RPL21P28,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 26874613 26874724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK8 chr13 26874615 26874724 Gain and loss Pancreatic cancer SNP array 17952125 CDK8 chr13 26874616 26874724 Gain and loss Pancreatic cancer SNP array 17952125 CDK8 chr13 26875258 26875358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDK8 chr13 26877101 26877201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDK8 chr13 26896680 26907846 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDK8 chr13 26896680 26907846 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDK8 chr13 26896681 26907823 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDK8 chr13 26896681 26907823 Gain and loss Pancreatic cancer SNP array 17952125 CDK8 chr13 26896700 26907734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK8 chr13 26896700 26907734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK8 chr13 26906286 26906752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK8 chr13 26907780 26922711 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDK8 chr13 26907780 26922711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK8 chr13 26907780 26922711 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDK8 chr13 26907780 26922711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK8 chr13 26907785 26913809 Gain and loss Pancreatic cancer SNP array 17952125 CDK8 chr1 32695245 32893524 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 BSDC1,EIF3I,FAM167B,HDAC1,LCK,LOC100128071,MARCKSL1,MTMR9LP,TSSK3 chr1 32696023 32696320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3I chr13 26960272 26960369 Gain and loss Pancreatic cancer SNP array 17952125 CDK8 chr13 26960275 26960369 Gain and loss Pancreatic cancer SNP array 17952125 CDK8 chr13 26967093 26967272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDK8 chr13 27018049 27093244 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 27018050 27092720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27018050 27092720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27018052 27092548 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 27018052 27092548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27049820 27050046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27049934 27050038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27067882 27067962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32708813 32774716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM167B,HDAC1,LCK chr1 32708813 32774716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM167B,HDAC1,LCK chr13 27089987 27090085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27092894 27139548 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 WASF3 chr13 27092903 27139547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WASF3 chr13 27092903 27139547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WASF3 chr13 27092903 27139547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WASF3 chr13 27094003 27139547 Gain and loss Pancreatic cancer SNP array 17952125 WASF3 chr13 27109308 27248949 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 WASF3 chr13 27109852 27109924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27153524 27153670 Gain Normal 244K array 17666407 WASF3 chr13 27166140 27167048 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WASF3 chr13 27168530 27169341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WASF3 chr13 27180954 85023127 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP5EP2,ATP7B,ATXN8OS,B3GALTL,BORA,BRCA2,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDX2,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,IRG1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00366,LINC00381,LINC00398,LINC00423,LINC00426,LINC00439,LINC00441,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTIF3,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PAN3,PAN3-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF219,RPL21,RPL21P28,RXFP2,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UCHL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,ZAR1L,ZC3H13 chr1 32719745 32720045 Gain Chordoma References 21215367 LCK chr1 32720036 32721036 Loss Chordoma References 21215367 LCK chr13 27214040 27214140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WASF3 chr13 27231012 27231099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WASF3 chr13 27237095 27237195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WASF3 chr13 27264780 27266089 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 27264780 27266089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27264780 27266089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27264780 27266089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27300900 27301006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27300900 27301006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32734866 32785278 Gain and loss Pancreatic cancer SNP array 17952125 HDAC1,LCK chr13 27351765 27351865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27392001 27401500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 27392157 27397394 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 27392157 27397394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27392157 27397394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27392177 27397394 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27410070 27456668 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 27417342 27417710 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 27417343 27417727 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 27417394 27417713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27417394 27417713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27417397 27417552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27432501 27451000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 27434277 27441317 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 27434277 27441317 Gain or loss Cancer - 20668451 NOT_FOUND chr13 27434277 27441317 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 27434277 27441317 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 27434277 27441317 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 27434277 27441317 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 27434281 27441317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 27434281 27441317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27434281 27441317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27434281 27441317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27450243 27460774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27450243 27460774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27450261 27460774 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 27450267 27460768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27461434 27461715 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27461434 27461715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27461436 27461721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27475410 27572729 Copy number Lung cancer - 20668451 NOT_FOUND chr13 27475410 27572729 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 27475410 27572729 Gain or loss Cancer - 20668451 NOT_FOUND chr13 27475410 27572729 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 27475410 27572729 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 27475410 27572729 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 27475410 27572729 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 27475411 27572729 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 27475411 27572729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27475411 27572729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27475757 27572729 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27482032 27482132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27487940 27487992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27488106 27488247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27540575 27572061 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 27561111 27584649 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 27576584 27576684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 27579586 27580014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27579586 27580014 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 27579586 27580014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 27608980 27611311 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 27611014 27767472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 USP12 chr13 27611014 27767472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP12 chr13 27611014 27767472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP12 chr13 27646417 27767465 Gain and loss Pancreatic cancer SNP array 17952125 USP12 chr13 27653373 29051068 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP5EP2,CDX2,FLT1,FLT3,GSX1,GTF3A,LNX2,MTIF3,PAN3,PAN3-AS1,PDX1,POLR1D,PRHOXNB,RASL11A,RPL21,RPL21P28,SNORA27,SNORD102,USP12 chr13 27686650 27688034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP12 chr13 27688359 27688459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP12 chr13 27704638 27704744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP12 chr13 27704638 27704754 Gain and loss Pancreatic cancer SNP array 17952125 USP12 chr13 27704639 27704743 Gain and loss Pancreatic cancer SNP array 17952125 USP12 chr13 27735222 27735322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP12 chr13 27737857 27738182 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 USP12 chr13 27737857 27738182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP12 chr1 32774645 32774744 Gain and loss Pancreatic cancer SNP array 17952125 HDAC1 chr1 32774645 32774745 Gain and loss Pancreatic cancer SNP array 17952125 HDAC1 chr1 32777359 32844129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BSDC1,HDAC1,LOC100128071,MARCKSL1,TSSK3 chr1 32777359 32844129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BSDC1,HDAC1,LOC100128071,MARCKSL1,TSSK3 chr13 27773790 27967232 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27773790 27967232 Gain and loss Pancreatic cancer SNP array 17952125 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27774388 27967265 Copy number Lung cancer - 20668451 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27774388 27967265 Gain or loss Breast cancer - 20668451 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27774388 27967265 Gain or loss Cancer - 20668451 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27774388 27967265 Gain or loss Lung cancer - 20668451 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27774388 27967265 Gain or loss Ovarian cancer - 20668451 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27774388 27967265 Gain or loss Pancreas cancer - 20668451 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27774388 27967265 Gain or loss Prostate cancer - 20668451 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27774389 27967265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27800000 115169878 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ALOX5AP,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP4B,ATP5EP2,ATP7B,ATXN8OS,B3GALTL,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CDX2,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EEF1DP3,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GAS6,GAS6-AS1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRK1,GRTP1,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HS6ST3,HSPH1,HTR2A,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00297,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00398,LINC00410,LINC00423,LINC00426,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LNX2,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,MEDAG,METTL21C,METTL21CP1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTIF3,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PAN3,PAN3-AS1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RASA3,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,RPL21,RPL21P28,RXFP2,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SOX1,SOX21,SPACA7,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBGCP3,UBAC2,UBAC2-AS1,UBL3,UCHL3,UFM1,UGGT2,UPF3A,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13,ZIC2,ZIC5 chr13 27800000 28900000 Amplification Colorectal cancer GISTIC software 19359472 ATP5EP2,CDX2,FLT1,FLT3,GSX1,GTF3A,LNX2,MTIF3,PAN3,PAN3-AS1,PDX1,POLR1D,PRHOXNB,RASL11A,RPL21,RPL21P28,SNORA27,SNORD102 chr13 27800000 31100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5EP2,CDX2,FLT1,FLT3,GSX1,GTF3A,HMGB1,KATNAL1,LINC00297,LINC00426,LINC00544,LNX2,MTIF3,MTUS2,MTUS2-AS1,PAN3,PAN3-AS1,PDX1,POLR1D,POMP,PRHOXNB,RASL11A,RPL21,RPL21P28,SLC46A3,SLC7A1,SNORA27,SNORD102,UBL3 chr13 27800000 31100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5EP2,CDX2,FLT1,FLT3,GSX1,GTF3A,HMGB1,KATNAL1,LINC00297,LINC00426,LINC00544,LNX2,MTIF3,MTUS2,MTUS2-AS1,PAN3,PAN3-AS1,PDX1,POLR1D,POMP,PRHOXNB,RASL11A,RPL21,RPL21P28,SLC46A3,SLC7A1,SNORA27,SNORD102,UBL3 chr13 27800000 31100000 Loss Non-small cell lung cancer dChip 21829676 ATP5EP2,CDX2,FLT1,FLT3,GSX1,GTF3A,HMGB1,KATNAL1,LINC00297,LINC00426,LINC00544,LNX2,MTIF3,MTUS2,MTUS2-AS1,PAN3,PAN3-AS1,PDX1,POLR1D,POMP,PRHOXNB,RASL11A,RPL21,RPL21P28,SLC46A3,SLC7A1,SNORA27,SNORD102,UBL3 chr13 27800000 31100000 Loss Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ATP5EP2,CDX2,FLT1,FLT3,GSX1,GTF3A,HMGB1,KATNAL1,LINC00297,LINC00426,LINC00544,LNX2,MTIF3,MTUS2,MTUS2-AS1,PAN3,PAN3-AS1,PDX1,POLR1D,POMP,PRHOXNB,RASL11A,RPL21,RPL21P28,SLC46A3,SLC7A1,SNORA27,SNORD102,UBL3 chr13 27800000 32900000 Deletion Peters Plus syndrome MLPA 16909395 ALOX5AP,ATP5EP2,B3GALTL,BRCA2,CDX2,EEF1DP3,FLT1,FLT3,FRY,GSX1,GTF3A,HMGB1,HSPH1,KATNAL1,LINC00297,LINC00398,LINC00426,LINC00544,LNX2,MEDAG,MTIF3,MTUS2,MTUS2-AS1,PAN3,PAN3-AS1,PDX1,POLR1D,POMP,PRHOXNB,RASL11A,RPL21,RPL21P28,RXFP2,SLC46A3,SLC7A1,SNORA27,SNORD102,TEX26,TEX26-AS1,UBL3,USPL1,ZAR1L chr13 27800000 55300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP5EP2,ATP7B,B3GALTL,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDX2,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTIF3,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PAN3,PAN3-AS1,PCDH8,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,RASL11A,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RPL21,RPL21P28,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 27800000 87700000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP5EP2,ATP7B,ATXN8OS,B3GALTL,BORA,BRCA2,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDX2,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,IRG1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00366,LINC00381,LINC00398,LINC00423,LINC00426,LINC00439,LINC00441,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTIF3,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PAN3,PAN3-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF219,RPL21,RPL21P28,RXFP2,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SLITRK1,SLITRK6,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UCHL3,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr1 32785917 32815345 Gain and loss Pancreatic cancer SNP array 17952125 HDAC1,MARCKSL1 chr13 27866643 28270443 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GTF3A,LNX2,MTIF3,POLR1D chr13 27871181 27967265 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 27959379 56166069 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP5EP2,ATP7B,B3GALTL,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDX2,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTIF3,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PAN3,PAN3-AS1,PCDH8,PDS5B,PDX1,PHF11,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 27966001 27968000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 32796632 32796711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDAC1 chr1 32798853 32798943 Gain and loss Pancreatic cancer SNP array 17952125 HDAC1 chr13 28003001 28006500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GTF3A chr13 28006501 28008000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GTF3A chr13 28013602 28013662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTIF3 chr13 28060107 28097992 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 28070970 28072189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 28071082 28071156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 28131240 28151091 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LNX2 chr13 28131251 28151059 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LNX2 chr13 28131251 28151059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LNX2 chr13 28131251 28151059 Gain and loss Pancreatic cancer SNP array 17952125 LNX2 chr13 28131251 28151059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LNX2 chr1 32815071 32829966 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128071,TSSK3 chr13 28152605 28152684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LNX2 chr13 28172219 28191150 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LNX2 chr13 28172220 28191111 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LNX2 chr13 28172220 28191111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LNX2 chr13 28172220 28191111 Gain and loss Pancreatic cancer SNP array 17952125 LNX2 chr13 28172220 28191111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LNX2 chr13 28175839 28175944 Gain and loss Pancreatic cancer SNP array 17952125 LNX2 chr13 28175839 28175944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LNX2 chr13 28175840 28175944 Gain and loss Pancreatic cancer SNP array 17952125 LNX2 chr13 28181886 28214510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LNX2,POLR1D chr13 28192920 28193020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LNX2 chr13 28194523 28196158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LNX2,POLR1D chr13 28250695 28251074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 28272326 28300478 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 328296 6887359 Deletion Cancer single-nucleotide polymorphism array 19907438 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,PANK4,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WRAP73,ZBTB48 chr13 28300478 29912078 LOH Normal High-resolution SNP genotyping 21211785 ATP5EP2,CDX2,FLT1,FLT3,GSX1,MTUS2,PAN3,PAN3-AS1,PDX1,POMP,PRHOXNB,SLC46A3 chr13 28348720 28348820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 28351580 28351680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 28370856 28370956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32838441 32889120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BSDC1 chr1 32838441 32889120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BSDC1 chr13 28385107 28420092 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 28421532 29452428 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATP5EP2,CDX2,FLT1,FLT3,PAN3,PAN3-AS1,PDX1,POMP,PRHOXNB,SLC46A3 chr13 28424958 28424991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32845552 32865438 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BSDC1 chr13 28496747 28978084 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP5EP2,CDX2,FLT1,FLT3,PAN3,PAN3-AS1,PDX1,PRHOXNB chr13 28496748 28975873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP5EP2,CDX2,FLT1,FLT3,PAN3,PAN3-AS1,PDX1,PRHOXNB chr13 28496748 28978083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5EP2,CDX2,FLT1,FLT3,PAN3,PAN3-AS1,PDX1,PRHOXNB chr13 28496748 28978083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5EP2,CDX2,FLT1,FLT3,PAN3,PAN3-AS1,PDX1,PRHOXNB chr13 28497451 28975872 Gain and loss Pancreatic cancer SNP array 17952125 ATP5EP2,CDX2,FLT1,FLT3,PAN3,PAN3-AS1,PDX1,PRHOXNB chr13 28500205 28500276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDX1 chr13 28535605 28535689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 28551620 28551675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 28554115 29380652 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 FLT1,FLT3,PAN3,PAN3-AS1,POMP,PRHOXNB,SLC46A3 chr13 28554115 29705278 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 FLT1,FLT3,MTUS2,PAN3,PAN3-AS1,POMP,PRHOXNB,SLC46A3 chr13 28648831 28649681 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FLT3 chr13 28650285 28652724 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FLT3 chr13 28657458 28702146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLT3 chr13 28694699 28694778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 28716793 29149657 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLT1,PAN3 chr13 28778915 28779922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAN3 chr1 32878139 32878240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 28782423 28856776 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PAN3 chr13 28789563 28789873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAN3 chr13 28800631 28832659 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PAN3 chr13 28800631 28832923 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PAN3 chr13 28802318 28832602 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PAN3 chr13 28802318 28832659 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PAN3 chr13 28813749 29435297 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FLT1,PAN3,POMP,SLC46A3 chr13 28826908 28872458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAN3 chr13 28852758 28853081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAN3 chr13 28859489 28859589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAN3 chr1 32889411 32918845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 32889411 32918845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 28900000 32200000 Copy number Breast cancer References 20031965 ALOX5AP,B3GALTL,FLT1,HMGB1,HSPH1,KATNAL1,LINC00297,LINC00398,LINC00426,LINC00544,MEDAG,MTUS2,MTUS2-AS1,POMP,SLC46A3,SLC7A1,TEX26,TEX26-AS1,UBL3,USPL1 chr13 28900000 32200000 Copy number Colorectal cancer - 19287155 ALOX5AP,B3GALTL,FLT1,HMGB1,HSPH1,KATNAL1,LINC00297,LINC00398,LINC00426,LINC00544,MEDAG,MTUS2,MTUS2-AS1,POMP,SLC46A3,SLC7A1,TEX26,TEX26-AS1,UBL3,USPL1 chr13 28900000 32200000 Copy number Ovarian cancer Affymetrix 50K Xba Mapping Array 19047089 ALOX5AP,B3GALTL,FLT1,HMGB1,HSPH1,KATNAL1,LINC00297,LINC00398,LINC00426,LINC00544,MEDAG,MTUS2,MTUS2-AS1,POMP,SLC46A3,SLC7A1,TEX26,TEX26-AS1,UBL3,USPL1 chr13 28900000 32200000 Gain Esophageal adenocarcinoma MLPA 18820669 ALOX5AP,B3GALTL,FLT1,HMGB1,HSPH1,KATNAL1,LINC00297,LINC00398,LINC00426,LINC00544,MEDAG,MTUS2,MTUS2-AS1,POMP,SLC46A3,SLC7A1,TEX26,TEX26-AS1,UBL3,USPL1 chr13 28900000 40100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ALG5,ALOX5AP,B3GALTL,BRCA2,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EEF1DP3,EXOSC8,FAM48A,FLT1,FREM2,FRY,HMGB1,HSPH1,KATNAL1,KL,LHFP,LINC00297,LINC00366,LINC00398,LINC00423,LINC00426,LINC00457,LINC00544,LINC00547,LINC00571,MAB21L1,MEDAG,MINOS1P1,MIR548F5,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NBEA,NHLRC3,PDS5B,POMP,POSTN,PROSER1,RFC3,RFXAP,RXFP2,SERTM1,SLC46A3,SLC7A1,SMAD9,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,TEX26,TEX26-AS1,TRPC4,UBL3,UFM1,USPL1,ZAR1L chr13 28900000 50900000 Amplification Alveolar rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 AKAP11,ALG5,ALOX5AP,ARL11,B3GALTL,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DLEU1,DLEU2,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM194B,FAM216B,FAM48A,FLT1,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,HMGB1,HSPH1,HTR2A,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00297,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR5006,MIR548F5,MIR621,MLNR,MRPS31,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,OR7E37P,PDS5B,PHF11,POMP,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RXFP2,SERP2,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1P3,TEX26,TEX26-AS1,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USPL1,VWA8,VWA8-AS1,WBP4,ZAR1L,ZC3H13 chr13 28900000 73300000 Loss Prostate cancer Array CGH 16573809 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP7B,ATXN8OS,B3GALTL,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FLT1,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00332,LINC00348,LINC00366,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MTUS2,MTUS2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,POMP,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 28925142 28925227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLT1 chr1 32893053 32916689 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 28948685 28959887 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLT1 chr13 28948685 28959887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLT1 chr13 28948685 28959887 Gain and loss Pancreatic cancer SNP array 17952125 FLT1 chr13 28948685 28959887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLT1 chr13 28969073 28969163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLT1 chr13 28981550 29067721 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 FLT1 chr13 28981552 29067721 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLT1 chr13 28981552 29067721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLT1 chr13 28981552 29067721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLT1 chr13 28984117 29067622 Gain and loss Pancreatic cancer SNP array 17952125 FLT1 chr13 28986001 28988000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLT1 chr13 28999202 28999302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLT1 chr1 32900361 32909664 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 29020254 29065821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLT1 chr1 32902347 32902437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 29060517 29060617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLT1 chr13 29070400 29070500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 29098197 29121021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 32909934 32952847 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB8B chr13 29100177 45425665 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AKAP11,ALG5,ALOX5AP,B3GALTL,BRCA2,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,COG6,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,ELF1,ENOX1,EPSTI1,EXOSC8,FAM216B,FAM48A,FOXO1,FREM2,FRY,HMGB1,HSPH1,KATNAL1,KBTBD6,KBTBD7,KL,LACC1,LHFP,LINC00284,LINC00297,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00457,LINC00544,LINC00547,LINC00548,LINC00571,LINC00598,MAB21L1,MEDAG,MINOS1P1,MIR320D1,MIR4305,MIR5006,MIR548F5,MIR621,MRPS31,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NHLRC3,OR7E37P,PDS5B,POMP,POSTN,PROSER1,RFC3,RFXAP,RGCC,RXFP2,SERP2,SERTM1,SLC25A15,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TEX26,TEX26-AS1,TNFSF11,TPTE2P5,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USPL1,VWA8,VWA8-AS1,WBP4,ZAR1L chr13 29110274 29134915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 29111801 29121600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 29112629 29127376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 29113824 29119844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 29113829 29121175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 29113837 29126124 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 29141660 29546504 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 POMP,SLC46A3 chr13 29184043 29184143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32918548 32941307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8B chr1 32918548 32941307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8B chr13 29236546 29322263 Gain and loss Pancreatic cancer SNP array 17952125 POMP,SLC46A3 chr13 29236546 29322715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 POMP,SLC46A3 chr13 29236546 29322715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POMP,SLC46A3 chr13 29307227 29307308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 29336247 29336489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 29336247 29336489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 29336606 29336765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 29336606 29336765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 29338096 29338306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 29341059 31371387 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALOX5AP,HMGB1,KATNAL1,LINC00297,LINC00426,LINC00544,MTUS2,MTUS2-AS1,SLC7A1,UBL3,USPL1 chr13 29364342 51971489 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-788K arrays 21546498 AKAP11,ALG5,ALOX5AP,ARL11,B3GALTL,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HMGB1,HSPH1,HTR2A,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00297,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR5006,MIR548F5,MIR5693,MIR621,MLNR,MRPS31,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,OR7E37P,PDS5B,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SLC7A1,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1P3,TEX26,TEX26-AS1,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USPL1,VWA8,VWA8-AS1,WBP4,ZAR1L,ZC3H13 chr1 32939501 33012500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZBTB8A,ZBTB8B chr13 29408042 29422625 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 29408042 29422625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 29408042 29422625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 29410043 29422495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 29450901 34405811 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ALOX5AP,B3GALTL,BRCA2,EEF1DP3,FRY,HMGB1,HSPH1,KATNAL1,KL,LINC00297,LINC00398,LINC00423,LINC00426,LINC00544,MEDAG,MINOS1P1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,PDS5B,RFC3,RXFP2,SLC7A1,STARD13,STARD13-AS2,TEX26,TEX26-AS1,UBL3,USPL1,ZAR1L chr13 29461211 29461311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 32952249 32993568 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB8B chr13 29529029 29529129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 29538673 29538892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 29538874 29539101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 29538878 29538972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 29575163 30483928 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00297,MTUS2,MTUS2-AS1,SLC7A1,UBL3 chr13 29575163 30913939 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KATNAL1,LINC00297,LINC00544,MTUS2,MTUS2-AS1,SLC7A1,UBL3 chr13 29579571 29579671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 29601159 29637838 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTUS2 chr13 29608606 29608706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 29674768 29779584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MTUS2 chr13 29674768 29779584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr13 29674768 29779584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr13 29680610 29779584 Gain and loss Pancreatic cancer SNP array 17952125 MTUS2 chr13 29685947 29686002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 29686619 29686669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 29729927 29730027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 29741486 29741564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 29753902 29754006 Gain and loss Pancreatic cancer SNP array 17952125 MTUS2 chr13 29753902 29754006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr13 29768284 29768872 Gain and loss Pancreatic cancer SNP array 17952125 MTUS2 chr13 29768284 29768872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr1 32980099 33013158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8A chr1 32980099 33013158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8A chr13 29812394 29846351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTUS2 chr13 29842438 30069072 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-793K arrays 21546498 MTUS2,MTUS2-AS1 chr13 29854889 29854982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 29883684 29884934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MTUS2 chr13 29890613 29890713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 29900128 29900592 Gain and loss Pancreatic cancer SNP array 17952125 MTUS2 chr13 29900128 29900592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr13 29930877 29938081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MTUS2 chr13 29930877 30089734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTUS2,MTUS2-AS1,SLC7A1 chr13 29930877 30089734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTUS2,MTUS2-AS1,SLC7A1 chr13 29930878 29938081 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MTUS2 chr13 29930878 30089510 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MTUS2,MTUS2-AS1,SLC7A1 chr13 29930884 30089731 Gain and loss Pancreatic cancer SNP array 17952125 MTUS2,MTUS2-AS1,SLC7A1 chr13 29941602 29941824 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MTUS2 chr1 32996970 33005440 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB8A chr13 30011734 30015598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr13 30011734 30015598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr13 30013780 30015034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr13 30017710 30017799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 30025807 30026830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTUS2 chr13 30025925 30026403 Gain and loss Pancreatic cancer SNP array 17952125 MTUS2 chr13 30034101 30034201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTUS2 chr13 30064114 30075460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTUS2 chr13 30069778 30850926 Loss Developmental delay affymetrix genechip 500K/SNP 6.54 array 21147756 KATNAL1,LINC00297,LINC00544,MTUS2,SLC7A1,UBL3 chr13 30073586 30073920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MTUS2 chr13 30084190 30084289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC7A1 chr13 30089829 30131686 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SLC7A1 chr13 30089829 30131686 Gain or loss Breast cancer - 20668451 SLC7A1 chr13 30089829 30131686 Gain or loss Cancer - 20668451 SLC7A1 chr13 30089829 30131686 Gain or loss Lung cancer - 20668451 SLC7A1 chr13 30089829 30131686 Gain or loss Ovarian cancer - 20668451 SLC7A1 chr13 30089829 30131686 Gain or loss Pancreas cancer - 20668451 SLC7A1 chr13 30089829 30131686 Gain or loss Prostate cancer - 20668451 SLC7A1 chr13 30089920 30131686 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC7A1 chr13 30089920 30131686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC7A1 chr13 30089920 30131686 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A1 chr13 30089920 30131686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A1 chr13 30092966 30093018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC7A1 chr13 30110054 30113001 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 SLC7A1 chr13 30131054 56820599 Loss Prostate cancer Array CGH 18632612 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP7B,B3GALTL,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PDS5B,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SLC7A1,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UBL3,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr1 33013234 33013309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB8A chr1 33013427 33056220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8A chr1 33013427 33056220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8A chr13 30207669 30236556 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 30207669 30236556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 30207669 30236556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 30207669 30236556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 33021191 33029339 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB8A chr13 30219604 30249667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 30255225 30288662 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 30259913 30293764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 33029289 33036083 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB8A chr13 30324160 30324447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 33032936 33033182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8A chr13 30338555 30521993 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 LINC00297,LINC00544,UBL3 chr13 30378311 30397709 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 UBL3 chr13 30378311 30397709 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 UBL3 chr13 30378328 30397678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UBL3 chr13 30378328 30397678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBL3 chr13 30378328 30397678 Gain and loss Pancreatic cancer SNP array 17952125 UBL3 chr13 30378328 30397678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBL3 chr13 30404833 30447153 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LINC00297,UBL3 chr13 30404834 30447151 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00297,UBL3 chr13 30404834 30447151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00297,UBL3 chr13 30404834 30447151 Gain and loss Pancreatic cancer SNP array 17952125 LINC00297,UBL3 chr13 30404834 30447151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00297,UBL3 chr13 30418668 30418768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBL3 chr13 30427024 30440032 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 30526501 30528000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 30526800 30527326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 33055630 33097062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8A,ZBTB8OS chr1 33055630 33097062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8A,ZBTB8OS chr13 30557068 33186608 Deletion Prostate cancer array-based comparativegenomic hybridization 21147910 ALOX5AP,B3GALTL,BRCA2,EEF1DP3,FRY,HMGB1,HSPH1,KATNAL1,LINC00398,LINC00426,MEDAG,MINOS1P1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,PDS5B,RXFP2,TEX26,TEX26-AS1,USPL1,ZAR1L chr13 30571238 30587836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 30601545 30603657 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 30608762 30634117 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 30608762 30634502 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 30608765 30634117 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 30608765 30634117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 30608765 30634117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 30608765 30634117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 30610504 30610779 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr13 30613925 30613985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 30618376 30640542 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 30618376 30642448 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 30618911 75931920 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1016K arrays 21546498 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP7B,ATXN8OS,B3GALTL,BORA,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,INTS6,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00398,LINC00423,LINC00426,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,PIBF1,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 30633001 30634500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 30666060 30666160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 30669520 30669612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 30672112 30804409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KATNAL1 chr13 30672112 30804409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KATNAL1 chr13 30672132 30803657 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KATNAL1 chr13 30672132 30803657 Gain and loss Pancreatic cancer SNP array 17952125 KATNAL1 chr13 30672765 30672865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 30687616 30771805 Amplification Congenital anomalies of the kidney and urinary tract Array CGH 17440070 NOT_FOUND chr13 30687616 30771805 Deletion Cancer Array CGH 17440070 NOT_FOUND chr13 30704884 32168351 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALOX5AP,B3GALTL,HMGB1,HSPH1,KATNAL1,LINC00398,LINC00426,MEDAG,TEX26,TEX26-AS1,USPL1 chr1 33071140 33099507 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB8A,ZBTB8OS chr13 30783426 30785058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KATNAL1 chr13 30861616 30861686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KATNAL1 chr1 33090049 33090119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB8OS chr13 30912700 30912829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 30997594 31029718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 33100456 33108938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8OS chr1 33100456 33108938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB8OS chr13 31011354 35071432 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1001K arrays 21546498 ALOX5AP,B3GALTL,BRCA2,EEF1DP3,FRY,HMGB1,HSPH1,KL,LINC00398,LINC00423,LINC00457,MEDAG,MINOS1P1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,PDS5B,RFC3,RXFP2,STARD13,STARD13-AS2,TEX26,TEX26-AS1,USPL1,ZAR1L chr13 31019998 31053679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HMGB1 chr1 33107001 33141000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBBP4,ZBTB8OS chr13 31100000 32900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALOX5AP,B3GALTL,BRCA2,EEF1DP3,FRY,HSPH1,LINC00398,MEDAG,RXFP2,TEX26,TEX26-AS1,USPL1,ZAR1L chr13 31100000 32900000 Deletion Breast cancer high-resolution aCGH 21958427 ALOX5AP,B3GALTL,BRCA2,EEF1DP3,FRY,HSPH1,LINC00398,MEDAG,RXFP2,TEX26,TEX26-AS1,USPL1,ZAR1L chr13 31100000 32900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALOX5AP,B3GALTL,BRCA2,EEF1DP3,FRY,HSPH1,LINC00398,MEDAG,RXFP2,TEX26,TEX26-AS1,USPL1,ZAR1L chr13 31100000 39500000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ALG5,ALOX5AP,B3GALTL,BRCA2,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EEF1DP3,EXOSC8,FAM48A,FREM2,FRY,HSPH1,KL,LINC00366,LINC00398,LINC00423,LINC00457,LINC00547,LINC00571,MAB21L1,MEDAG,MINOS1P1,MIR548F5,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NBEA,PDS5B,POSTN,RFC3,RFXAP,RXFP2,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,TEX26,TEX26-AS1,TRPC4,UFM1,USPL1,ZAR1L chr13 31100000 39500000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 ALG5,ALOX5AP,B3GALTL,BRCA2,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EEF1DP3,EXOSC8,FAM48A,FREM2,FRY,HSPH1,KL,LINC00366,LINC00398,LINC00423,LINC00457,LINC00547,LINC00571,MAB21L1,MEDAG,MINOS1P1,MIR548F5,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NBEA,PDS5B,POSTN,RFC3,RFXAP,RXFP2,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,TEX26,TEX26-AS1,TRPC4,UFM1,USPL1,ZAR1L chr13 31100000 46200000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AKAP11,ALG5,ALOX5AP,B3GALTL,BRCA2,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,COG3,COG6,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,ELF1,ENOX1,EPSTI1,EXOSC8,FAM194B,FAM216B,FAM48A,FOXO1,FREM2,FRY,GTF2F2,HSPH1,KBTBD6,KBTBD7,KCTD4,KIAA1704,KL,LACC1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00457,LINC00547,LINC00548,LINC00571,LINC00598,MAB21L1,MEDAG,MINOS1P1,MIR320D1,MIR4305,MIR5006,MIR548F5,MIR621,MRPS31,MTRF1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NHLRC3,NUFIP1,OR7E37P,PDS5B,POSTN,PROSER1,RFC3,RFXAP,RGCC,RXFP2,SERP2,SERTM1,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TEX26,TEX26-AS1,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,USPL1,VWA8,VWA8-AS1,WBP4,ZAR1L chr13 31100000 77800000 Gain Paragangliomas Multiplex Ligation-dependent Probe Amplification 21461997 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP7B,ATXN8OS,B3GALTL,BORA,BRCA2,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HNRNPA1L2,HSPH1,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00398,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,PIBF1,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 31100000 77800000 Gain Pheochromocytomas Multiplex Ligation-dependent Probe Amplification 21461997 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP7B,ATXN8OS,B3GALTL,BORA,BRCA2,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HNRNPA1L2,HSPH1,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00398,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,PIBF1,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 31100000 86500000 Loss Acute lymphoblastic leukemia array CGH 17690704 AKAP11,ALG11,ALG5,ALOX5AP,ARL11,ATP7B,ATXN8OS,B3GALTL,BORA,BRCA2,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HNRNPA1L2,HSPH1,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00366,LINC00381,LINC00398,LINC00423,LINC00439,LINC00441,LINC00446,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF219,RXFP2,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SLITRK1,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr1 33114627 33115166 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB8OS chr13 31151027 31234534 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 USPL1 chr13 31152197 31152264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 31182821 31182921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3312095 3572010 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF16,MEGF6,MIR551A,PRDM16,TP73,TPRG1L,WRAP73 chr13 31211674 31275009 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 USPL1 chr13 31211674 31275009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USPL1 chr13 31211674 31275009 Gain and loss Pancreatic cancer SNP array 17952125 USPL1 chr13 31211674 31275009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USPL1 chr13 31211678 31275009 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 USPL1 chr1 33124685 33132833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBBP4 chr1 33124685 33132833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBBP4 chr13 31279210 31319797 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALOX5AP chr13 31285989 51290306 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-933K arrays 21546498 AKAP11,ALG5,ALOX5AP,ARL11,B3GALTL,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DLEU1,DLEU2,DLEU7,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,HSPH1,HTR2A,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00398,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR5006,MIR548F5,MIR621,MLNR,MRPS31,MTRF1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,OR7E37P,PDS5B,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RXFP2,SERP2,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1P3,TEX26,TEX26-AS1,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,VWA8,VWA8-AS1,WBP4,ZAR1L,ZC3H13 chr13 31318919 31431720 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ALOX5AP,LINC00398 chr13 31318972 31425609 Gain and loss Pancreatic cancer SNP array 17952125 ALOX5AP,LINC00398 chr1 33132782 33139540 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RBBP4 chr1 33132783 33149272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBBP4,SYNC chr1 33132783 33149272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBBP4,SYNC chr13 31361653 31361775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 33141001 35224000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADC,AK2,C1orf94,CSMD2,FNDC5,GJB5,HMGB4,HPCA,KIAA1522,LOC402779,MIR3605,PHC2,RBBP4,RNF19B,S100PBP,SYNC,TMEM54,TRIM62,YARS,ZNF362,ZSCAN20 chr13 31414007 31447069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 31420493 31438345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 31423232 31425156 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 31429924 31430071 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 31430071 31430622 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 31430110 31438046 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr13 31430622 31436423 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 31430645 31436801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 31430839 31436343 Loss Normal 244K array 17666407 NOT_FOUND chr13 31438240 31439240 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 31438241 31439241 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 33144118 33171564 Gain and loss Pancreatic cancer SNP array 17952125 RBBP4,SYNC chr13 31455957 31456057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 31458677 31888780 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B3GALTL,HSPH1,MEDAG,TEX26,TEX26-AS1 chr13 31473052 31473152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEX26-AS1 chr13 31503437 31768771 Gain and loss Pancreatic cancer SNP array 17952125 HSPH1,TEX26,TEX26-AS1 chr13 31503437 31768776 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HSPH1,TEX26,TEX26-AS1 chr13 31503437 31768776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPH1,TEX26,TEX26-AS1 chr13 31503437 31768776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPH1,TEX26,TEX26-AS1 chr13 31514625 31514689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TEX26 chr1 33158375 33263299 Loss Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 KIAA1522,SYNC,YARS chr13 31607897 31607997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 33163926 33164270 Gain and loss Pancreatic cancer SNP array 17952125 SYNC chr1 33164482 33164587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNC chr13 31656807 31656907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 31694570 31694670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 31716525 31716625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPH1 chr13 31736748 31736816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 33174633 33203001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 33174633 33203001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 31775837 31784062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31775837 31784062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31776016 31783894 Gain and loss Pancreatic cancer SNP array 17952125 B3GALTL chr13 31776016 31784062 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B3GALTL chr13 31781872 32010919 Gain and loss Pancreatic cancer SNP array 17952125 B3GALTL chr13 31787616 31871809 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 B3GALTL chr13 31787616 31871809 Copy number Breast cancer - 21637503 B3GALTL chr13 31787616 31871809 Copy number Breast cancer direct sequencing 16760289 B3GALTL chr13 31787616 31871809 Copy number Breast cancer high-resolution aCGH 21958427 B3GALTL chr13 31787616 31871809 Copy number Breast cancer MLPA 16551709 B3GALTL chr13 31787616 31871809 Copy number Ovarian cancer - 21637503 B3GALTL chr13 31787616 31871809 Copy number Ovarian cancer direct sequencing 16760289 B3GALTL chr13 31787616 31871809 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 B3GALTL chr13 31787616 31871809 Deletion Breast cancer - 17634833 B3GALTL chr13 31787616 31871809 Deletion Breast cancer MLPA 17592676 B3GALTL chr13 31787616 31871809 Deletion Breast cancer MLPA 18501021 B3GALTL chr13 31787616 31871809 Deletion Breast cancer MLPA 18703817 B3GALTL chr13 31787616 31871809 Deletion Ovarian cancer - 17634833 B3GALTL chr13 31787616 31871809 Deletion Ovarian cancer MLPA 18501021 B3GALTL chr13 31787616 31871809 Deletion Ovarian cancer multiplex ligation-dependent probe amplification 18465347 B3GALTL chr13 31787616 31871809 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 B3GALTL chr13 31787616 31871809 Duplications,deletions Ovarian cancer - 18559594 B3GALTL chr13 31787616 31871809 Gain or loss Breast cancer - 20668451 B3GALTL chr13 31787616 31871809 Gain or loss Cancer - 20668451 B3GALTL chr13 31787616 31871809 Gain or loss Lung cancer - 20668451 B3GALTL chr13 31787616 31871809 Gain or loss Ovarian cancer - 20668451 B3GALTL chr13 31787616 31871809 Gain or loss Pancreas cancer - 20668451 B3GALTL chr13 31787616 31871809 Gain or loss Prostate cancer - 20668451 B3GALTL chr13 31787616 31871809 Genomic rearrangement Breast cancer MLPA 16843109 B3GALTL chr13 31787616 31871809 Genomic rearrangement Breast cancer MLPA 18465347 B3GALTL chr13 31787616 31871809 Genomic rearrangement Ovarian cancer MLPA 16843109 B3GALTL chr13 31787616 31871809 Genomic rearrangement Ovarian cancer MLPA 18465347 B3GALTL chr13 31787616 31871809 Genomic rearrangements Breast cancer MLPA 22377129 B3GALTL chr13 31787616 31871809 Genomic rearrangements Ovarian cancer MLPA 22377129 B3GALTL chr13 31787616 31871809 Nonsense Breast cancer - 20616022 B3GALTL chr13 31787617 31871805 Gain and loss Pancreatic cancer SNP array 17952125 B3GALTL chr13 31787617 31871809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B3GALTL chr13 31787617 31871809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31787617 31871809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31797266 33180891 Deletion Breast cancer FISH 17142309 B3GALTL,BRCA2,EEF1DP3,FRY,MINOS1P1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,PDS5B,RXFP2,ZAR1L chr13 31813308 31813550 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 B3GALTL chr13 31843537 32168351 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B3GALTL chr1 33184723 33184823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 31856797 31858223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31872859 31900315 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 B3GALTL chr13 31872861 31900315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B3GALTL chr13 31872861 31900315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31872861 31900315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31873806 31900261 Gain and loss Pancreatic cancer SNP array 17952125 B3GALTL chr13 31874758 31874858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 B3GALTL chr13 31879092 31879373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B3GALTL chr13 31879092 31879373 Gain and loss Pancreatic cancer SNP array 17952125 B3GALTL chr13 31891545 32010919 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B3GALTL chr13 31891545 32010936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31891545 32010936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31892527 31892653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALTL chr13 31892529 31892646 Gain and loss Pancreatic cancer SNP array 17952125 B3GALTL chr13 31904929 32010936 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 B3GALTL chr13 31932662 57354779 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-833K arrays 21546498 AKAP11,ALG11,ALG5,ARL11,ATP7B,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PDS5B,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 31938877 31938977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 31949411 31950978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 31976644 31981532 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 31989029 32010932 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 32036851 32038301 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr13 32058564 32250157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 32058564 32250157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 32058624 32250157 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 32058624 32250157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 32074000 41674000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ALG5,BRCA2,CCDC169,CCDC169-SOHLH2,CCNA1,COG6,CSNK1A1L,DCLK1,EEF1DP3,ELF1,EXOSC8,FAM48A,FOXO1,FREM2,FRY,KL,LHFP,LINC00332,LINC00366,LINC00423,LINC00457,LINC00547,LINC00548,LINC00571,LINC00598,MAB21L1,MINOS1P1,MIR320D1,MIR4305,MIR548F5,MIR621,MRPS31,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NBEA,NHLRC3,PDS5B,POSTN,PROSER1,RFC3,RFXAP,RXFP2,SERTM1,SLC25A15,SMAD9,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TPTE2P5,TRPC4,UFM1,WBP4,ZAR1L chr13 32119980 32120080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 32129461 51576544 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-894K arrays 21546498 AKAP11,ALG5,ARL11,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MINOS1P1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR5006,MIR548F5,MIR621,MLNR,MRPS31,MTRF1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,OR7E37P,PDS5B,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,VWA8,VWA8-AS1,WBP4,ZAR1L,ZC3H13 chr1 33215807 33255223 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1522,YARS chr13 32165871 32165971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 32167757 32167857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 33218133 33218660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1522 chr13 32195967 32196117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 32200000 40100000 Deletion Monoclonal gammopathy of undetermined significance Array CGH 19135901 ALG5,BRCA2,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EEF1DP3,EXOSC8,FAM48A,FREM2,FRY,KL,LHFP,LINC00366,LINC00423,LINC00457,LINC00547,LINC00571,MAB21L1,MINOS1P1,MIR548F5,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NBEA,NHLRC3,PDS5B,POSTN,PROSER1,RFC3,RFXAP,RXFP2,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,TRPC4,UFM1,ZAR1L chr13 32200000 40100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ALG5,BRCA2,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EEF1DP3,EXOSC8,FAM48A,FREM2,FRY,KL,LHFP,LINC00366,LINC00423,LINC00457,LINC00547,LINC00571,MAB21L1,MINOS1P1,MIR548F5,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NBEA,NHLRC3,PDS5B,POSTN,PROSER1,RFC3,RFXAP,RXFP2,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,TRPC4,UFM1,ZAR1L chr13 32200000 55300000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AKAP11,ALG11,ALG5,ARL11,ATP7B,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PDS5B,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 32200000 55300000 Loss Prostate cancer Affymetrix 250K SNP array 19242612 AKAP11,ALG11,ALG5,ARL11,ATP7B,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PDS5B,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 32200000 73300000 Deletion Prostate cancer Affymetrix 50K SNP mapping array 17245344 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BRCA2,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EEF1DP3,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,FRY,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00348,LINC00366,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RXFP2,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13 chr13 32200342 32200442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 32235576 32235690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 32235578 32235690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 32246569 32575970 Deletion Normal Arbitrated Peel-off 21527027 EEF1DP3,RXFP2 chr1 33225140 33226421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1522 chr13 32253337 32842576 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EEF1DP3,FRY,RXFP2 chr13 32332913 33951987 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BRCA2,EEF1DP3,FRY,KL,LINC00423,MINOS1P1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,PDS5B,RXFP2,STARD13,STARD13-AS2,ZAR1L chr13 32346889 32352685 Loss Normal Birdsuite, version 1.5.2 22087296 RXFP2 chr13 32360333 32360433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RXFP2 chr13 32413267 32413367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 32417648 32417798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 32426195 32426539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF1DP3 chr13 32447396 32447496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEF1DP3 chr1 33246173 33275079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YARS chr1 33246173 33275079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YARS chr13 32488570 32538279 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 EEF1DP3 chr13 32488570 32538279 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 EEF1DP3 chr13 32488571 32538279 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EEF1DP3 chr13 32488571 32538279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEF1DP3 chr13 32488571 32538279 Gain and loss Pancreatic cancer SNP array 17952125 EEF1DP3 chr13 32488571 32538279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF1DP3 chr1 33249921 34415697 LOH Normal High-resolution SNP genotyping 21211785 ADC,AK2,CSMD2,FNDC5,HMGB4,HPCA,LOC402779,MIR3605,PHC2,RNF19B,S100PBP,TMEM54,TRIM62,YARS,ZNF362,ZSCAN20 chr13 32515483 32515560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEF1DP3 chr13 32572850 113351493 Loss Prostate cancer Array CGH 18632612 A2LD1,ABCC4,ABHD13,AKAP11,ALG11,ALG5,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BRCA2,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,FOXO1,FREM2,FRY,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00410,LINC00423,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MBNL2,MED4,MED4-AS1,METTL21C,METTL21CP1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SOX1,SOX21,SPACA7,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UFM1,UGGT2,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZAR1L,ZC3H13,ZIC2,ZIC5 chr13 32575272 32757901 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FRY chr13 32575306 32658216 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 FRY chr13 32575306 33148932 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 BRCA2,FRY,MINOS1P1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,ZAR1L chr13 32575307 32757892 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FRY chr13 32575307 32757892 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRY chr13 32575307 32757892 Gain and loss Pancreatic cancer SNP array 17952125 FRY chr13 32575307 32757892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRY chr13 32598123 32598453 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 32637987 32638087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRY chr13 32649929 32650162 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FRY chr13 32661495 32661585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FRY chr1 33267420 33267764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YARS chr13 32689518 32734704 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRY chr1 33280097 33316744 Gain and loss Pancreatic cancer SNP array 17952125 S100PBP,YARS chr13 32825625 32853201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRY chr13 32859839 32904696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRCA2,FRY,ZAR1L chr13 32889616 32973809 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 BRCA2 chr13 32889616 32973809 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 BRCA2 chr13 32900000 34700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BRCA2,KL,LINC00423,MINOS1P1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,PDS5B,RFC3,STARD13,STARD13-AS2 chr13 32900000 45900000 Gain Glioblastoma multiforme aCGH 21080181 AKAP11,ALG5,BRCA2,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,COG6,CSNK1A1L,DCLK1,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,EXOSC8,FAM216B,FAM48A,FOXO1,FREM2,GTF2F2,KBTBD6,KBTBD7,KCTD4,KIAA1704,KL,LACC1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00423,LINC00457,LINC00547,LINC00548,LINC00571,LINC00598,MAB21L1,MINOS1P1,MIR320D1,MIR4305,MIR5006,MIR548F5,MIR621,MRPS31,MTRF1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NHLRC3,NUFIP1,OR7E37P,PDS5B,POSTN,PROSER1,RFC3,RFXAP,RGCC,SERP2,SERTM1,SLC25A15,SMAD9,SMIM2-IT1,SOHLH2,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TNFSF11,TPTE2P5,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,VWA8,VWA8-AS1,WBP4 chr13 32900000 86500000 Gain Colorectal cancer - 21586687 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,BRCA2,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00366,LINC00381,LINC00423,LINC00439,LINC00441,LINC00446,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SLITRK1,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 32900000 93800000 Copy number Small bowel adenocarcinoma BAC arrays and 30K oligonucleotide arrays 21586687 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,BRCA2,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FNDC3A,FOXO1,FREM2,GPC5,GPC5-AS1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00366,LINC00379,LINC00381,LINC00410,LINC00423,LINC00433,LINC00439,LINC00441,LINC00446,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4500,MIR4500HG,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR622,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 32905141 32905146 Deletion Breast cancer - 20616022 BRCA2 chr13 32907366 32907371 Deletion Breast cancer - 20616022 BRCA2 chr13 32914438 32914439 Deletion Breast cancer - 20616022 BRCA2 chr13 32928730 32955289 Duplication Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA2 chr13 32928730 32955289 Duplication Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA2 chr13 32940522 32945860 Duplication Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA2 chr13 32940522 32945860 Duplication Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA2 chr13 32960705 32960735 Deletion Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA2 chr13 32960705 32960735 Deletion Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA2 chr13 32979158 75023627 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-909K arrays 21546498 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00348,LINC00366,LINC00381,LINC00423,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MINOS1P1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PHF11,PIBF1,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 32995401 33041058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 N4BP2L1,N4BP2L2 chr13 33033731 33042821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 N4BP2L2 chr13 33033770 33042587 Loss Normal 244K array 17666407 N4BP2L2 chr13 33090592 33091321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 N4BP2L2 chr13 33090603 33091366 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 N4BP2L2 chr1 33319301 33358709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNDC5,HPCA,S100PBP chr1 33319301 33358709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC5,HPCA,S100PBP chr13 33245837 33245907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDS5B chr13 33288309 33288661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDS5B chr1 33328940 33329040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNDC5 chr13 33290205 33438695 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LINC00423,PDS5B chr13 33290205 33438695 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LINC00423,PDS5B chr13 33290205 33438695 Deletion Intellectual disability 100k SNP Array 21811512 LINC00423,PDS5B chr13 33290206 33309642 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PDS5B chr13 33290206 33309642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDS5B chr13 33290206 33309642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDS5B chr13 33290206 33309644 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 PDS5B chr13 33290234 33309642 Gain and loss Pancreatic cancer SNP array 17952125 PDS5B chr13 33301674 33301786 Gain and loss Pancreatic cancer SNP array 17952125 PDS5B chr13 33301675 33301786 Gain and loss Pancreatic cancer SNP array 17952125 PDS5B chr13 33345580 33350195 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDS5B chr13 33354219 33354319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 33359981 33391858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00423 chr13 33433143 33433277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00423 chr13 33464480 33464848 Loss Normal 244K array 17666407 LINC00423 chr13 33470977 33475565 Gain Normal 244K array 17666407 LINC00423 chr1 33350199 33350239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 33554566 33555447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 33566885 70923300 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-906K arrays 21546498 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KL,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 33572848 33572974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 33572848 33572975 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 33572848 33572975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 33594306 33594406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KL chr13 33623259 78516556 Losse Retinoblastoma Array-CGH 19183342 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00439,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 33636966 33655986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KL chr13 33649834 33649934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 33655694 57321869 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-928K arrays 21546498 AKAP11,ALG11,ALG5,ARL11,ATP7B,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 33659145 33659245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 33685637 33685702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD13 chr13 33709551 33713507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STARD13 chr13 33749980 35096860 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00457,RFC3,STARD13,STARD13-AS2 chr13 33768946 33934202 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 STARD13,STARD13-AS2 chr13 33768946 33934202 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 STARD13,STARD13-AS2 chr13 33799075 33799173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD13 chr13 33828527 33861308 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STARD13,STARD13-AS2 chr1 33383591 33420229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF19B chr1 33383591 33420229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF19B chr13 33836141 34181365 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 STARD13,STARD13-AS2 chr13 33867110 33867144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD13 chr13 33906076 33910184 Gain Normal 244K array 17666407 STARD13 chr13 33917913 33918013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD13 chr1 3339695 3339795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM16 chr13 34000000 35500000 Gain or loss Esophageal squamous carcinoma Array CGH 17470683 LINC00457,RFC3,STARD13 chr13 34000000 55300000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 AKAP11,ALG11,ALG5,ARL11,ATP7B,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STOML3,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 34046341 34046803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STARD13 chr1 33405269 33435413 Gain and loss Pancreatic cancer SNP array 17952125 RNF19B chr1 3340741 3340843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM16 chr13 34112539 34157748 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STARD13 chr13 34168049 34172162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STARD13 chr13 34232224 35410158 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00457,RFC3,STARD13 chr13 34239422 61860440 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-972K arrays 21546498 AKAP11,ALG11,ALG5,ARL11,ATP7B,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH17,PCDH8,PHF11,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STARD13,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 34241705 34241781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD13 chr13 34269071 90412505 Loss Developmental delay affymetrix genechip 500K/SNP 6.55 array 21147756 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00366,LINC00381,LINC00433,LINC00439,LINC00441,LINC00446,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4500,MIR4500HG,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 34353466 34353551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34357862 34358209 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 34389350 34420814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RFC3 chr13 34414455 35144873 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LINC00457,RFC3 chr13 34414456 35144873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00457,RFC3 chr13 34414456 35144873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00457,RFC3 chr13 34414456 35144873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00457,RFC3 chr1 33441466 33447586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 34414787 35144872 Gain and loss Pancreatic cancer SNP array 17952125 LINC00457,RFC3 chr13 34423949 80551061 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00439,LINC00441,LINC00446,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 34454601 34464500 Deletion Glioma mate-paired sequence 20126413 RFC3 chr13 34456631 34462872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RFC3 chr13 34519174 34519274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RFC3 chr1 33455162 33455245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34570436 34595828 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr13 34579534 34579634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 33458320 33510287 Gain and loss Pancreatic cancer SNP array 17952125 AK2 chr13 34588252 34598671 Loss Normal 244K array 17666407 NOT_FOUND chr13 34592800 34592961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 34601353 34601453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34609906 34609947 Loss Normal 244K array 17666407 NOT_FOUND chr13 34610384 34610484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34637172 34637272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34657431 34658816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 34669914 34714812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 34700000 114142980 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,FOXO1,FREM2,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SOX1,SOX21,SPACA7,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UFM1,UGGT2,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13,ZIC2,ZIC5 chr13 34700000 39500000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,FREM2,LINC00366,LINC00457,LINC00547,LINC00571,MAB21L1,MIR548F5,NBEA,POSTN,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,TRPC4,UFM1 chr13 34700000 39500000 Copy number Normal - 21701786 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,FREM2,LINC00366,LINC00457,LINC00547,LINC00571,MAB21L1,MIR548F5,NBEA,POSTN,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,TRPC4,UFM1 chr13 34700000 39500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,FREM2,LINC00366,LINC00457,LINC00547,LINC00571,MAB21L1,MIR548F5,NBEA,POSTN,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,TRPC4,UFM1 chr13 34700000 39500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,FREM2,LINC00366,LINC00457,LINC00547,LINC00571,MAB21L1,MIR548F5,NBEA,POSTN,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,TRPC4,UFM1 chr13 34700000 48900000 Loss Malignant fibrous histiocytomas aCGH 21085701 AKAP11,ALG5,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,DCLK1,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM194B,FAM216B,FAM48A,FOXO1,FREM2,GTF2F2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00457,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LRCH1,MAB21L1,MED4,MED4-AS1,MIR320D1,MIR4305,MIR5006,MIR548F5,MIR621,MRPS31,MTRF1,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,OR7E37P,POSTN,PROSER1,RB1,RFXAP,RGCC,SERP2,SERTM1,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr1 33471239 33471558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 33471319 33471558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 34723207 34723966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 34738842 34738958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34747938 34748008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3347501 3358500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRDM16 chr13 34802500 34802580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34836654 73126766 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-855K arrays 21546498 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00348,LINC00366,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 34866970 34867070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34910337 34910397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34932849 34932881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 34946404 34949346 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 34946404 34949346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 34946404 34949346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 34947196 34948275 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 34966551 34966674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 33508763 33538907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 33508763 33538907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 35108239 35118281 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 LINC00457 chr13 35112563 114092980 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,FOXO1,FREM2,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00457,LINC00460,LINC00462,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SOX1,SOX21,SPACA7,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UFM1,UGGT2,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13,ZIC2,ZIC5 chr13 35139331 51215445 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-773K arrays 21546498 AKAP11,ALG5,ARL11,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DLEU1,DLEU2,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR5006,MIR548F5,MIR621,MLNR,MRPS31,MTRF1,NAA16,NBEA,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFXAP,RGCC,SERP2,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 35148895 35148995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00457 chr13 35153415 35153515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00457 chr13 35206757 58049515 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AKAP11,ALG11,ALG5,ARL11,ATP7B,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00457,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 35214564 35214648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00457 chr13 35220951 35221044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 35243477 35603443 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NBEA chr13 35243478 35603443 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBEA chr13 35243478 35603443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35243478 35603443 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35243478 35603443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr1 33526451 33571601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADC chr13 35275977 35410158 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 35336405 35336722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 35338046 35338146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 35421626 35421726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 35442881 35442956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 33544954 33559286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADC chr1 33544954 33559286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADC chr13 35478929 35479012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 35479177 35980608 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NBEA chr13 35479177 36060585 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MAB21L1,MIR548F5,NBEA chr13 35500000 115169878 Loss Prostate cancer Array CGH 16573809 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP4B,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDC16,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,FOXO1,FREM2,GAS6,GAS6-AS1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRK1,GRTP1,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00460,LINC00462,LINC00547,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00571,LINC00598,LMO7,LOC100506394,LPAR6,LRCH1,MAB21L1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NAA16,NALCN,NALCN-AS1,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RASA3,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SOX1,SOX21,SPACA7,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UFM1,UGGT2,UPF3A,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13,ZIC2,ZIC5 chr13 35500000 40100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,FREM2,LHFP,LINC00366,LINC00547,LINC00571,MAB21L1,MIR548F5,NBEA,NHLRC3,POSTN,PROSER1,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,STOML3,TRPC4,UFM1 chr13 35500000 40100000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,FREM2,LHFP,LINC00366,LINC00547,LINC00571,MAB21L1,MIR548F5,NBEA,NHLRC3,POSTN,PROSER1,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,STOML3,TRPC4,UFM1 chr13 35500000 75400000 Loss Basal cell lymphoma Array CGH 16317097 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00441,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MZT1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 35500000 75400000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00441,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MZT1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 35500000 99300000 Loss Prostate cancer Array CGH 16573809 ABCC4,AKAP11,ALG11,ALG5,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DZIP1,EBPL,EDNRB,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FNDC3A,FOXO1,FREM2,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR180,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,INTS6,IPO5,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00446,LINC00462,LINC00547,LINC00548,LINC00550,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MAB21L1,MBNL2,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4500,MIR4500HG,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR622,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SOX21,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TGDS,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UCHL3,UFM1,UGGT2,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 35515669 35515758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 35537681 35537749 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35537747 35537818 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35537747 35537818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35578425 35578525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBEA chr1 33561811 33613781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADC,TRIM62 chr1 33561811 33613781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADC,TRIM62 chr13 35624822 35624922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBEA chr13 35637015 35637076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NBEA chr13 35640346 35686752 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NBEA chr13 35640353 35686676 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NBEA chr13 35640355 35686676 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBEA chr13 35640355 35686676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35640355 35686676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35640355 35686725 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35695077 35738745 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35699180 35769961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35699180 35769969 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBEA chr13 35703707 36360010 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DCLK1,MAB21L1,MIR548F5,NBEA chr13 35715918 57305306 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-816K arrays 21546498 AKAP11,ALG11,ALG5,ARL11,ATP7B,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,POSTN,PROSER1,RB1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 35739305 35739411 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35739305 35739411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr1 33574754 33575052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADC chr13 35752195 35769969 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35773777 35818453 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBEA chr13 35773777 35818453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35773777 35818453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35773777 35818898 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35808312 35808412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBEA chr1 33581730 34569385 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADC,CSMD2,HMGB4,LOC402779,MIR3605,PHC2,TRIM62,ZNF362,ZSCAN20 chr13 35818569 35840547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBEA chr13 35818569 35840547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35818569 35840547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35832815 35840361 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr1 3358501 3390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF16 chr13 35851899 35870313 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NBEA chr13 35884821 35895614 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NBEA chr13 35904408 35915019 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NBEA chr13 35904495 35914972 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBEA chr13 35904495 35914972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35904495 35914972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35904633 35915006 Gain and loss Pancreatic cancer SNP array 17952125 NBEA chr13 35910866 35910866 Copy number Prostate cancer Illumina GA II sequencer 21307934 NBEA chr13 35947393 69072489 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-952K arrays 21546498 AKAP11,ALG11,ALG5,ARL11,ATP7B,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CYSLTR2,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM124A,FAM194B,FAM216B,FAM48A,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00462,LINC00547,LINC00548,LINC00558,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NBEA,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,POSTN,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SPERT,SPG20,SPG20OS,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 35962215 35962578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 35962215 35962578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEA chr13 36007958 36039798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NBEA chr13 36013539 36013639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBEA chr1 33602524 33618815 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TRIM62 chr1 33602908 33624028 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRIM62 chr13 36042848 37758104 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,MAB21L1,MIR548F5,NBEA,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS chr1 33607352 33631086 Gain and loss Pancreatic cancer SNP array 17952125 TRIM62 chr1 33609383 33624101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRIM62 chr1 3361100 3387537 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF16 chr1 3361100 3387537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF16 chr1 3361100 3387537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF16 chr13 36141754 36141854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548F5,NBEA chr13 36146048 36169975 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MIR548F5,NBEA chr13 36146049 36169641 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548F5,NBEA chr13 36146049 36169641 Gain and loss Pancreatic cancer SNP array 17952125 MIR548F5,NBEA chr13 36146049 36169973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5,NBEA chr13 36146049 36169973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5,NBEA chr13 36200739 36200829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5,NBEA chr13 36201443 36246237 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548F5,NBEA chr13 36212178 36213060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5,NBEA chr13 36214015 36214602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5,NBEA chr13 36216743 38434639 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,LINC00547,MIR548F5,NBEA,POSTN,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,TRPC4 chr13 36266621 36267181 Gain and loss Pancreatic cancer SNP array 17952125 MIR548F5 chr13 36266621 36267187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548F5 chr13 36266621 36267341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5 chr13 36266621 36267341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5 chr13 36270412 36270515 Gain and loss Pancreatic cancer SNP array 17952125 MIR548F5 chr13 36270412 36270515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5 chr13 36270430 36270511 Gain and loss Pancreatic cancer SNP array 17952125 MIR548F5 chr13 36291338 36301740 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MIR548F5 chr13 36291339 36301740 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548F5 chr13 36291339 36301740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5 chr13 36291339 36301740 Gain and loss Pancreatic cancer SNP array 17952125 MIR548F5 chr13 36291339 36301740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548F5 chr13 36301002 36301086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548F5 chr13 36312466 36312786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548F5 chr13 36316968 36392375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCLK1,MIR548F5 chr13 36316968 36392375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36316968 36392375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36319782 36842928 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC169,CCDC169-SOHLH2,DCLK1,MIR548F5,SOHLH2 chr13 36319782 38356405 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG5,CCDC169,CCDC169-SOHLH2,CCNA1,CSNK1A1L,DCLK1,EXOSC8,FAM48A,LINC00547,MIR548F5,POSTN,RFXAP,SERTM1,SMAD9,SOHLH2,SPG20,SPG20OS,TRPC4 chr13 36320206 36392409 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DCLK1,MIR548F5 chr13 36320207 36392375 Gain and loss Pancreatic cancer SNP array 17952125 DCLK1,MIR548F5 chr13 36330278 36330378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548F5 chr13 36334417 36334517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548F5 chr13 36342954 36368212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCLK1,MIR548F5 chr13 36366643 36368226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCLK1,MIR548F5 chr13 36394676 36395045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36394676 36395046 Gain and loss Pancreatic cancer SNP array 17952125 DCLK1,MIR548F5 chr13 36398736 36399310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36410537 36411631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36416294 114028000 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 A2LD1,ABCC4,ABHD13,AKAP11,ALG11,ALG5,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCLK1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,FOXO1,FREM2,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00460,LINC00462,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR548F5,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NAA16,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOHLH2,SOX1,SOX21,SPACA7,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UFM1,UGGT2,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13,ZIC2,ZIC5 chr13 36421909 36471504 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DCLK1,MIR548F5 chr13 36421967 36471477 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCLK1,MIR548F5 chr13 36421967 36471477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36421967 36471477 Gain and loss Pancreatic cancer SNP array 17952125 DCLK1,MIR548F5 chr13 36421967 36471477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36472677 36481749 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DCLK1,MIR548F5 chr13 36472678 36481538 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCLK1,MIR548F5 chr13 36472678 36481538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36472678 36481538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36472917 36481436 Gain and loss Pancreatic cancer SNP array 17952125 DCLK1,MIR548F5 chr13 36481450 36531850 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DCLK1,MIR548F5 chr13 36481453 36531850 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCLK1,MIR548F5 chr13 36481453 36531850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36481453 36531850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36481637 36531823 Gain and loss Pancreatic cancer SNP array 17952125 DCLK1,MIR548F5 chr1 33648702 34300536 Gain and loss Pancreatic cancer SNP array 17952125 CSMD2,MIR3605,PHC2,ZNF362,ZSCAN20 chr13 36492665 36492909 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCLK1,MIR548F5 chr13 36506814 36506929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1,MIR548F5 chr13 36507404 36697335 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DCLK1,MIR548F5 chr13 36522595 36522695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK1 chr13 36532713 36532745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK1 chr13 36541501 36543500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DCLK1 chr13 36564697 36564797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK1 chr13 36575396 36577801 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCLK1 chr13 36575396 36577801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLK1 chr13 36575396 36577801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1 chr13 36576380 36577393 Gain and loss Pancreatic cancer SNP array 17952125 DCLK1 chr13 36638459 36638795 Gain and loss Pancreatic cancer SNP array 17952125 DCLK1 chr13 36638494 36638795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1 chr13 36638507 36638795 Gain and loss Pancreatic cancer SNP array 17952125 DCLK1 chr13 36650718 36650816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK1 chr13 36652616 36652713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK1 chr13 36692997 36693383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK1 chr1 33670687 33704342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 36744532 36778831 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC169-SOHLH2,SOHLH2 chr13 36768627 36768727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC169-SOHLH2,SOHLH2 chr1 33680213 33680299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 36825277 36882354 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCDC169,CCDC169-SOHLH2,SPG20 chr13 36830898 36830998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC169,CCDC169-SOHLH2 chr13 36866501 36868000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC169,CCDC169-SOHLH2 chr1 33688338 33923847 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 MIR3605,PHC2,ZNF362 chr13 36917512 36917612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPG20 chr13 36967723 36983277 Loss or gain Normal 244K array 17666407 NOT_FOUND chr13 36969135 37011615 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CCNA1 chr13 36969135 37013110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36969136 36986608 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr13 36969941 36983577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 36970024 36982745 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 36970024 36982745 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 36970024 37013110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36970024 37023214 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36970024 37024196 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36970036 36982757 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 36973892 37013110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36973953 37013110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36973953 37024240 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36974255 37013110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36974255 37024196 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36974255 37024240 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36974275 37013110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36974659 37013110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36976340 37013110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36976340 37024240 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCNA1 chr13 36982757 36986387 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 37007077 37023673 Gain and loss Pancreatic cancer SNP array 17952125 CCNA1 chr13 37027898 37049202 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 37034776 37070885 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 37034778 37070874 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 37034779 37070874 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 37034779 37070874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 37034779 37070874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 37082407 46514472 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 AKAP11,ALG5,CCDC122,COG3,COG6,CSNK1A1L,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,EXOSC8,FAM194B,FAM216B,FAM48A,FOXO1,FREM2,GTF2F2,KBTBD6,KBTBD7,KCTD4,KIAA1704,LACC1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00547,LINC00548,LINC00571,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NHLRC3,NUFIP1,OR7E37P,POSTN,PROSER1,RFXAP,RGCC,SERP2,SERTM1,SIAH3,SLC25A15,SLC25A30,SMAD9,SMIM2-IT1,SNORA31,SPERT,STOML3,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,VWA8,VWA8-AS1,WBP4 chr13 37098141 37463504 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-812K arrays 21546498 RFXAP,SERTM1,SMAD9 chr13 37102130 37102230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37105718 37105818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 33710819 33734582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF362 chr1 33710819 33734582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF362 chr13 37108778 37342562 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SERTM1 chr13 37108778 37342562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERTM1 chr13 37108778 37342562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERTM1 chr13 37108794 37341935 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SERTM1 chr13 37109000 37342562 Gain and loss Pancreatic cancer SNP array 17952125 SERTM1 chr13 37167676 38204409 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG5,CSNK1A1L,EXOSC8,FAM48A,LINC00547,POSTN,RFXAP,SERTM1,SMAD9 chr13 37233635 37233735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37245102 37245201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37251893 37255951 Gain Normal 244K array 17666407 SERTM1 chr13 37274294 37274444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37279908 114142980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-820K arrays 21546498 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ALG5,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC70,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CSNK1A1L,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,EXOSC8,F10,F7,FAM124A,FAM155A,FAM194B,FAM216B,FAM48A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,FOXO1,FREM2,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00366,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00460,LINC00462,LINC00547,LINC00548,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LINC00571,LINC00598,LMO7,LPAR6,LRCH1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NAA16,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PHF11,PIBF1,POSTN,POU4F1,POU4F1-AS1,PROSER1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMAD9,SMIM2-IT1,SNORA31,SOX1,SOX21,SPACA7,SPERT,SPRY2,SPRYD7,ST13P4,STK24,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UFM1,UGGT2,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13,ZIC2,ZIC5 chr13 37289002 37289071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37326989 37327108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 37327011 37327104 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 37327018 37327107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 37367768 37367832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 37368527 37368627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37368535 37368635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37425287 37425352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMAD9 chr13 37465222 37466857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAD9 chr13 37466234 37466827 Gain and loss Pancreatic cancer SNP array 17952125 SMAD9 chr13 37501000 37750345 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ALG5,CSNK1A1L,EXOSC8,FAM48A chr1 33750195 33750930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF362 chr1 33752196 34404030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSMD2,HMGB4,LOC402779,MIR3605,PHC2,ZNF362,ZSCAN20 chr1 33752196 34404030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSMD2,HMGB4,LOC402779,MIR3605,PHC2,ZNF362,ZSCAN20 chr1 33753605 34169530 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CSMD2,MIR3605,PHC2,ZNF362,ZSCAN20 chr13 37581204 37582382 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EXOSC8 chr13 37613308 37613408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM48A chr1 33763660 33796048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PHC2,ZNF362 chr13 37689578 37689661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37709338 37709408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37715029 37975201 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr13 37781880 37781964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37807405 37807497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37821988 37835137 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 37821988 37835137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 37821988 37835137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 37821988 37835137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 37828931 37830519 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 37828931 37830519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 37830000 46020000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AKAP11,CCDC122,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM216B,FOXO1,FREM2,GTF2F2,KBTBD6,KBTBD7,KCTD4,KIAA1704,LACC1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00547,LINC00548,LINC00571,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NHLRC3,NUFIP1,OR7E37P,POSTN,PROSER1,RGCC,SERP2,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,STOML3,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,VWA8,VWA8-AS1,WBP4 chr13 37833831 37834097 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 37833831 37834097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 37883727 37883821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37909719 37909819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 37953301 37960000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 37955316 37958201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 37955318 37958191 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 37955338 37958221 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 37955504 37958191 Loss or gain Normal 244K array 17666407 NOT_FOUND chr13 37961008 37961108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 33797262 33797607 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PHC2 chr1 33800000 35270000 Loss Breast cancer aCGH 21509527 C1orf94,CSMD2,GJA4,GJB3,GJB4,GJB5,HMGB4,LOC402779,PHC2,ZSCAN20 chr13 38052254 38052701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 38064835 38064923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 33808184 33808281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHC2 chr13 38089556 38090077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 33812721 33812795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHC2 chr13 38159001 38160500 Copy number Normal ReadDepth: A Parallel R Package 21305028 POSTN chr13 38159172 38359267 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 POSTN,TRPC4 chr13 38159172 38359267 Copy number renal disease - 20603712 POSTN,TRPC4 chr13 38159173 38359263 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 POSTN,TRPC4 chr13 38159173 38359263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POSTN,TRPC4 chr13 38159173 38359263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POSTN,TRPC4 chr13 38161102 38162964 Gain and loss Pancreatic cancer SNP array 17952125 POSTN chr13 38226783 38226815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPC4 chr1 33824023 35747056 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf212,C1orf94,CSMD2,DLGAP3,GJA4,GJB3,GJB4,GJB5,HMGB4,LOC402779,LOC653160,PHC2,SFPQ,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZSCAN20 chr13 38255293 38358072 Gain and loss Pancreatic cancer SNP array 17952125 TRPC4 chr13 38262781 38262891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4 chr13 38277286 38281416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRPC4 chr13 38277522 38284801 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TRPC4 chr13 38277522 38284801 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 TRPC4 chr13 38308278 51583247 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-814K arrays 21546498 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00462,LINC00548,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR5006,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,UFM1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 38313385 39966065 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FREM2,LHFP,LINC00366,LINC00571,NHLRC3,PROSER1,STOML3,TRPC4,UFM1 chr13 38323836 38323836 Copy number Prostate cancer Illumina GA II sequencer 21307934 TRPC4 chr13 38356830 38366613 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRPC4 chr13 38364116 38398627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRPC4 chr13 38374524 38374787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4 chr13 38394864 38408336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4 chr13 38417730 38417822 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRPC4 chr13 38437323 38740373 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00571,TRPC4 chr13 38438061 38462983 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TRPC4 chr13 38438063 38462983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRPC4 chr13 38438063 38462983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC4 chr13 38438063 38462983 Gain and loss Pancreatic cancer SNP array 17952125 TRPC4 chr13 38438063 38462983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4 chr13 38482001 38510252 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 38482003 38510213 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 38482003 38510213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 38482003 38510252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 38482003 38510252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 38491136 38491223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 38510454 38522246 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 38510455 38522240 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 38510455 38522240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 38510455 38522240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 38510496 38522242 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 38553188 52732378 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-813K arrays 21546498 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00462,LINC00548,LINC00563,LINC00571,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr1 33855614 33855709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 38623869 38623968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 38641766 38642087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00571 chr13 38641766 38642090 Gain and loss Pancreatic cancer SNP array 17952125 LINC00571 chr13 38645517 38649619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00571 chr13 38729648 53927903 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-889K arrays 21546498 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00366,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UFM1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 38811007 38811073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 38815028 39075356 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 UFM1 chr13 38815028 39075356 Duplication or deletion Attention deficit hyperactivity disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 UFM1 chr13 38815028 39075356 Duplication or deletion Chronic motor tic disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 UFM1 chr13 38815028 39075356 Duplication or deletion Schizophrenia FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 UFM1 chr13 38815028 39075356 Gain or loss Breast cancer - 20668451 UFM1 chr13 38815028 39075356 Gain or loss Cancer - 20668451 UFM1 chr13 38815028 39075356 Gain or loss Lung cancer - 20668451 UFM1 chr13 38815028 39075356 Gain or loss Ovarian cancer - 20668451 UFM1 chr13 38815028 39075356 Gain or loss Pancreas cancer - 20668451 UFM1 chr13 38815028 39075356 Gain or loss Prostate cancer - 20668451 UFM1 chr13 38815033 39075356 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UFM1 chr13 38815033 39075356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UFM1 chr13 38815033 39075356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UFM1 chr13 38816073 39073353 Gain and loss Pancreatic cancer SNP array 17952125 UFM1 chr13 38830401 38835400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 38831627 38833387 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 38832001 38833574 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr13 38832001 38833574 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 38832183 38833480 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 38832183 38833480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 38847746 38847939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 38874833 38874933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 38882574 38882654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 38906962 38932177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UFM1 chr13 38919253 38919353 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 38919253 38919353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 38926470 38926791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UFM1 chr13 38926482 38926803 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 UFM1 chr13 38931661 39038349 Amplification or deletion Cancer Array CGH 17440070 UFM1 chr13 38936088 39159522 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00366,UFM1 chr13 38960329 38965996 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 39124715 39124806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 39127813 39263802 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 FREM2,LINC00366 chr13 39127814 39224637 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00366 chr13 39127814 39224637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00366 chr13 39127814 39224637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00366 chr13 39127814 39263802 Gain and loss Pancreatic cancer SNP array 17952125 FREM2,LINC00366 chr13 39136180 39137010 Gain Normal 244K array 17666407 NOT_FOUND chr13 39165257 52301042 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-771K arrays 21546498 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,FREM2,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39180226 39214040 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 39245554 39245654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39257552 39257647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 39257554 39257647 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 39257556 39257647 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 33927157 33927242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39289880 39290186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FREM2 chr13 39304694 39304794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FREM2 chr13 39329271 39329363 Gain and loss Pancreatic cancer SNP array 17952125 FREM2 chr13 39329272 39329364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FREM2 chr1 33936306 33949226 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZSCAN20 chr1 33936306 33951223 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZSCAN20 chr13 39364304 39364404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FREM2 chr13 39375624 39381478 Loss Normal Birdsuite, version 1.5.2 22087296 FREM2 chr13 39430700 39430880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FREM2 chr13 39430790 39430890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FREM2 chr13 39430878 39431041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FREM2 chr1 3394332 3394422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF16 chr1 3394373 3517919 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF16,MEGF6,MIR551A chr1 3394373 3517919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF16,MEGF6,MIR551A chr1 3394397 3420832 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF16,MEGF6 chr13 39441856 41938903 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-953K arrays 21546498 COG6,ELF1,FOXO1,FREM2,KBTBD6,KBTBD7,LHFP,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR621,MRPS31,MTRF1,NAA16,NHLRC3,PROSER1,SLC25A15,STOML3,SUGT1P3,TPTE2P5,WBP4 chr13 39462202 39462302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39499455 39499639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39500000 44300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKAP11,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM216B,FOXO1,KBTBD6,KBTBD7,LHFP,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NHLRC3,OR7E37P,PROSER1,RGCC,SLC25A15,STOML3,SUGT1P3,TNFSF11,TPTE2P5,VWA8,VWA8-AS1,WBP4 chr13 39500000 44300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKAP11,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM216B,FOXO1,KBTBD6,KBTBD7,LHFP,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NHLRC3,OR7E37P,PROSER1,RGCC,SLC25A15,STOML3,SUGT1P3,TNFSF11,TPTE2P5,VWA8,VWA8-AS1,WBP4 chr13 39500000 44300000 Loss Prostate cancer Human version 2.0 BAC arrays 17217626 AKAP11,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM216B,FOXO1,KBTBD6,KBTBD7,LHFP,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NHLRC3,OR7E37P,PROSER1,RGCC,SLC25A15,STOML3,SUGT1P3,TNFSF11,TPTE2P5,VWA8,VWA8-AS1,WBP4 chr13 39500000 46200000 Copy number Squamous cell cancer aCGH 20885788 AKAP11,CCDC122,COG3,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM194B,FAM216B,FOXO1,GTF2F2,KBTBD6,KBTBD7,KCTD4,KIAA1704,LACC1,LHFP,LINC00284,LINC00330,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NHLRC3,NUFIP1,OR7E37P,PROSER1,RGCC,SERP2,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,STOML3,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4 chr13 39500000 52200000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Deletion Bipolar disorder whole-organ genomic mapping strategy 18458673 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Deletion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Deletion Chronic lymphocytic leukemia FISH 17805327 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Deletion Mental retardation array CGH 17502991 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Deletion Retinoblastoma array CGH 17502991 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Loss Liposarcoma FISH, CGH 21253554 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39500000 52200000 Microdeletion microdeletion syndrome fluorescence in situ hybridization (FISH) 19284877 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,STOML3,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 39516616 47686991 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AKAP11,CCDC122,COG3,COG6,CPB2,CPB2-AS1,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FOXO1,GTF2F2,HTR2A,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00548,LINC00563,LINC00598,LRCH1,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NHLRC3,NUFIP1,OR7E37P,PROSER1,RGCC,SERP2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,STOML3,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 39529974 39705107 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NHLRC3,PROSER1,STOML3 chr13 39571073 39571173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39598072 50575037 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-904K arrays 21546498 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU2,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR320D1,MIR3613,MIR4305,MIR5006,MIR621,MLNR,MRPS31,MTRF1,NAA16,NHLRC3,NUDT15,NUFIP1,OR7E37P,PHF11,PROSER1,RB1,RCBTB1,RCBTB2,RGCC,SERP2,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr1 3396001 3463000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF16,MEGF6 chr13 39603425 39603525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROSER1 chr13 39652356 39652456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39671016 49044112 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 AKAP11,CCDC122,COG3,COG6,CPB2,CPB2-AS1,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FOXO1,GTF2F2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,LACC1,LCP1,LHFP,LINC00284,LINC00330,LINC00332,LINC00441,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NUDT15,NUFIP1,OR7E37P,RB1,RGCC,SERP2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 39676241 39676341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39698964 39699067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 39698964 39699069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 39703000 40042000 Amplification Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 LHFP chr13 39703000 40042000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 LHFP chr13 39764179 39764279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39816168 39942305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LHFP chr13 39822377 39942305 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LHFP chr13 39827863 39827952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39856633 39856733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39873457 39906652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 39888668 39888768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 39946130 40138734 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LHFP chr13 39946130 40138734 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 LHFP chr13 39946130 40138734 Gain or loss Breast cancer - 20668451 LHFP chr13 39946130 40138734 Gain or loss Cancer - 20668451 LHFP chr13 39946130 40138734 Gain or loss Lung cancer - 20668451 LHFP chr13 39946130 40138734 Gain or loss Ovarian cancer - 20668451 LHFP chr13 39946130 40138734 Gain or loss Pancreas cancer - 20668451 LHFP chr13 39946130 40138734 Gain or loss Prostate cancer - 20668451 LHFP chr1 33995169 33999484 Gain and loss Pancreatic cancer SNP array 17952125 CSMD2 chr13 39994832 39994932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LHFP chr1 34000067 34000152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 40003272 40003372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LHFP chr13 40009138 40009323 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LHFP chr13 40027801 40138734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LHFP chr13 40027801 40138734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LHFP chr13 40027817 40138734 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LHFP chr13 40027817 40138734 Gain and loss Pancreatic cancer SNP array 17952125 LHFP chr13 40090875 40093485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LHFP chr13 40100000 101700000 Copy number Endometrioid adenocarcinoma CGH 16974079 A2LD1,ABCC4,AKAP11,ALG11,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCT,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FARP1,FBXL3,FKSG29,FNDC3A,FOXO1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,INTS6,IPO5,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00446,LINC00462,LINC00548,LINC00550,LINC00558,LINC00559,LINC00563,LINC00598,LMO7,LPAR6,LRCH1,MBNL2,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR5006,MIR5007,MIR548AN,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,NAA16,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SETDB2,SIAH3,SLAIN1,SLC15A1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMIM2-IT1,SNORA31,SOX21,SPERT,SPRY2,SPRYD7,ST13P4,STK24,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TGDS,THSD1,TM9SF2,TMTC4,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13,ZIC2,ZIC5 chr13 40100000 115169878 LOH Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 A2LD1,ABCC4,ABHD13,ADPRHL1,AKAP11,ALG11,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP4B,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC122,CCDC168,CCDC70,CDADC1,CDC16,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COG3,COG6,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ELF1,ENOX1,EPSTI1,ERCC5,ESD,F10,F7,FAM124A,FAM155A,FAM194B,FAM216B,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,FOXO1,GAS6,GAS6-AS1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRK1,GRTP1,GTF2F2,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KDELC1,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LAMP1,LCP1,LECT1,LHFP,LIG4,LINC00282,LINC00284,LINC00330,LINC00331,LINC00332,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00460,LINC00462,LINC00548,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00563,LINC00565,LINC00598,LMO7,LOC100506394,LPAR6,LRCH1,MBNL2,MCF2L,MCF2L-AS1,MED4,MED4-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5006,MIR5007,MIR548AN,MIR548AS,MIR5693,MIR621,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NAA16,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PHF11,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RASA3,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERP2,SERPINE3,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLC25A15,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMIM2-IT1,SNORA31,SOX1,SOX21,SPACA7,SPERT,SPRY2,SPRYD7,ST13P4,STK24,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFSF11,TNFSF13B,TPP2,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UPF3A,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13,ZIC2,ZIC5 chr13 40100000 45200000 Deletion Glioma ChIP Assay 17146433 AKAP11,CCDC122,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM216B,FOXO1,KBTBD6,KBTBD7,LACC1,LHFP,LINC00284,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,OR7E37P,RGCC,SERP2,SLC25A15,SMIM2-IT1,SUGT1P3,TNFSF11,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4 chr13 40100000 45200000 Deletion Malignant glioma ChIP Assay 17146433 AKAP11,CCDC122,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM216B,FOXO1,KBTBD6,KBTBD7,LACC1,LHFP,LINC00284,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,OR7E37P,RGCC,SERP2,SLC25A15,SMIM2-IT1,SUGT1P3,TNFSF11,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4 chr13 40100000 45200000 Gain Sudden cardiac death CGH 19188705 AKAP11,CCDC122,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM216B,FOXO1,KBTBD6,KBTBD7,LACC1,LHFP,LINC00284,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,OR7E37P,RGCC,SERP2,SLC25A15,SMIM2-IT1,SUGT1P3,TNFSF11,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4 chr13 40100000 45200000 Loss Primary mediastinal b-cell lymphoma Array CGH 17728785 AKAP11,CCDC122,COG6,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM216B,FOXO1,KBTBD6,KBTBD7,LACC1,LHFP,LINC00284,LINC00332,LINC00548,LINC00598,MIR320D1,MIR4305,MIR5006,MIR621,MRPS31,MTRF1,NAA16,OR7E37P,RGCC,SERP2,SLC25A15,SMIM2-IT1,SUGT1P3,TNFSF11,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4 chr13 40100000 55300000 Amplification Hepatocellular carcinoma Array CGH 16750200 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 55300000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 55300000 Deletion Chronic lymphocytic leukemia 10k and 50k Affymetrix SNP arrays 17053054 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 55300000 Deletion Multiple myeloma Array CGH 19135901 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 55300000 Gain Autism References 18414403 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 55300000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 55300000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 55300000 Loss Prostate cancer Array CGH 16461572 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 59600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 73300000 Deletion Merkel cell carcinoma real-time quantitative PCR 19020549 AKAP11,ALG11,ARL11,ATP7B,ATXN8OS,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DACH1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00348,LINC00441,LINC00462,LINC00548,LINC00550,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MZT1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 77200000 Loss Prostate cancer Array CGH 16573809 AKAP11,ALG11,ARL11,ATP7B,ATXN8OS,BORA,C13orf45,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00347,LINC00348,LINC00381,LINC00441,LINC00462,LINC00548,LINC00550,LINC00558,LINC00563,LINC00598,LMO7,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4305,MIR4703,MIR5006,MIR5007,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MZT1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UCHL3,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40100000 79000000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AKAP11,ALG11,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FBXL3,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,IRG1,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00330,LINC00332,LINC00347,LINC00348,LINC00381,LINC00439,LINC00441,LINC00446,LINC00462,LINC00548,LINC00550,LINC00558,LINC00563,LINC00598,LMO7,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4703,MIR5006,MIR5007,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MYCBP2,MYCBP2-AS1,MZT1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SCEL,SERP2,SERPINE3,SETDB2,SIAH3,SLAIN1,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UCHL3,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr1 34014198 34014298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 40169112 40169423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LHFP chr13 40169122 40169436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LHFP chr13 40199964 40200011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40201440 40243309 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COG6,MIR4305 chr13 40201440 40243309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG6,MIR4305 chr13 40201440 40243309 Gain and loss Pancreatic cancer SNP array 17952125 COG6,MIR4305 chr13 40201440 40243309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG6,MIR4305 chr13 40233812 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-885K arrays 21546498 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,COG6,CPB2,CPB2-AS1,CYSLTR2,DGKH,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR320D1,MIR4305,MIR5006,MIR621,MLNR,MRPS31,MTRF1,NAA16,NUDT15,NUFIP1,OR7E37P,PHF11,RB1,RCBTB1,RCBTB2,RGCC,SERP2,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 40261597 40282246 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COG6 chr13 40261597 40282246 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG6 chr13 40261597 40282246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG6 chr13 40261755 40282246 Gain and loss Pancreatic cancer SNP array 17952125 COG6 chr13 4028246 40261597 Copy number Autism exome sequencing 22495311 ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG6,CRYL1,CSNK1A1L,DCLK1,EEF1DP3,EFHA1,EXOSC8,FAM123A,FAM48A,FGF9,FLT1,FLT3,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,KL,LATS2,LHFP,LINC00297,LINC00327,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00442,LINC00457,LINC00544,LINC00547,LINC00571,LNX2,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR4305,MIR4499,MIR548F5,MPHOSPH8,MRP63,MTIF3,MTMR6,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NBEA,NHLRC3,NUPL1,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RFC3,RFXAP,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERTM1,SGCG,SHISA2,SKA3,SLC46A3,SLC7A1,SMAD9,SNORA27,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,TEX26,TEX26-AS1,TNFRSF19,TPTE2,TPTE2P1,TPTE2P6,TRPC4,TUBA3C,UBL3,UFM1,USP12,USPL1,WASF3,XPO4,ZAR1L,ZDHHC20,ZMYM2,ZMYM5 chr13 40282902 40282997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG6 chr13 40294432 40336488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG6 chr13 40332062 41649707 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 COG6,ELF1,FOXO1,LINC00332,LINC00548,LINC00598,MIR320D1,MIR621,MRPS31,SLC25A15,SUGT1P3,TPTE2P5,WBP4 chr13 40335730 40336042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG6 chr13 40335742 40336039 Gain and loss Pancreatic cancer SNP array 17952125 COG6 chr13 40350746 57579050 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-795K arrays 21546498 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR4703,MIR5006,MIR5007,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40364390 41919766 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 COG6,ELF1,FOXO1,KBTBD6,KBTBD7,LINC00332,LINC00548,LINC00598,MIR320D1,MIR621,MRPS31,MTRF1,NAA16,SLC25A15,SUGT1P3,TPTE2P5,WBP4 chr13 40364390 47751880 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1013K arrays 21546498 AKAP11,CCDC122,COG3,COG6,CPB2,CPB2-AS1,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FOXO1,GTF2F2,HTR2A,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,LACC1,LCP1,LINC00284,LINC00330,LINC00332,LINC00548,LINC00563,LINC00598,LRCH1,MIR320D1,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NUFIP1,OR7E37P,RGCC,SERP2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 40364390 74700932 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1012K arrays 21546498 AKAP11,ALG11,ARL11,ATP7B,ATXN8OS,BORA,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,COG6,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DACH1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LINC00282,LINC00284,LINC00330,LINC00332,LINC00348,LINC00441,LINC00462,LINC00548,LINC00550,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4703,MIR5006,MIR5007,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,MZT1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,OR7E37P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 40383923 40393910 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 40383923 40393910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40383923 40393910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40384035 40393910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40404165 40454418 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40404170 40491450 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 40404170 40491450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40404170 40491450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40426501 40428250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 40436273 51748159 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-930K arrays 21546498 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR320D1,MIR3613,MIR5006,MIR621,MLNR,MRPS31,MTRF1,NAA16,NUDT15,NUFIP1,OR7E37P,PHF11,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 40457346 50287238 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 AKAP11,ARL11,CAB39L,CCDC122,CDADC1,COG3,CPB2,CPB2-AS1,CYSLTR2,DGKH,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,HTR2A,ITM2B,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR320D1,MIR5006,MIR621,MLNR,MRPS31,MTRF1,NAA16,NUDT15,NUFIP1,OR7E37P,PHF11,RB1,RCBTB1,RCBTB2,RGCC,SERP2,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SUCLA2,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 40464915 40465467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40475532 40475669 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 40487398 62730202 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-913K arrays 21546498 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LINC00282,LINC00284,LINC00330,LINC00332,LINC00441,LINC00462,LINC00548,LINC00558,LINC00563,LINC00598,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4703,MIR5006,MIR5007,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH17,PCDH20,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr1 3404949 3462031 Gain and loss Pancreatic cancer SNP array 17952125 MEGF6 chr13 40516498 40516593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 40531636 40531736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 40533662 40556137 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 40533662 40556137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40533662 40556137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40533662 40556137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40537425 40537425 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr13 40594012 40594305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40594017 40594307 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40594017 40594307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40599705 40604882 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 40599705 40604882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40599705 40604882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40602623 40604647 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40602635 40602754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 40603501 40605000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 40642836 40643284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40642908 40643305 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40652119 40652223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40652119 40652223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40661969 40666702 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 40661969 40666702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40661969 40666702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40663710 40666702 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 40664339 40666393 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40669113 40701719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 40671968 40672943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40688516 40735713 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 40688516 40735713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40688516 40735713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40689251 40735712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40689450 40689550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 40715918 40716018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 40723960 40756487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00332 chr13 40759939 40760456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00332 chr13 40759970 40760456 Gain and loss Pancreatic cancer SNP array 17952125 LINC00332 chr1 34076709 34078328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSMD2 chr13 40783416 40849162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00548 chr13 40783416 40849162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00548 chr13 40783418 40849162 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00548 chr13 40783418 40849166 Gain and loss Pancreatic cancer SNP array 17952125 LINC00548 chr13 40826693 40826795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40826694 40826795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40826694 40826795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40828510 40828604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 40830557 40830742 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40856909 40857319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40903976 40904242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40912042 40913516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40912081 40912746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40914863 40915778 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 40915190 40915802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 40929542 40943013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00598 chr13 40929542 40943013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00598 chr13 40929686 40943005 Gain and loss Pancreatic cancer SNP array 17952125 LINC00598 chr13 40929695 40943018 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00598 chr13 40935935 46175100 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP11,CCDC122,COG3,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,FAM194B,FAM216B,FOXO1,GTF2F2,KBTBD6,KBTBD7,KCTD4,KIAA1704,LACC1,LINC00284,LINC00330,LINC00598,MIR320D1,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NUFIP1,OR7E37P,RGCC,SERP2,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4 chr1 34098663 34102978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSMD2 chr1 34098663 34102978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSMD2 chr13 40986944 41149448 Copy number Lung cancer paired-end sequencing 18438408 FOXO1,LINC00598 chr13 41003320 41418753 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 FOXO1,LINC00598,MIR320D1,MIR621,MRPS31,SLC25A15,TPTE2P5 chr13 41016819 41016908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00598 chr13 41020000 47770000 Loss Breast cancer aCGH 21509527 AKAP11,CCDC122,COG3,CPB2,CPB2-AS1,DGKH,DNAJC15,ELF1,ENOX1,EPSTI1,ESD,FAM194B,FAM216B,FOXO1,GTF2F2,HTR2A,KBTBD6,KBTBD7,KCTD4,KIAA0226L,KIAA1704,LACC1,LCP1,LINC00284,LINC00330,LINC00563,LINC00598,LRCH1,MIR320D1,MIR5006,MIR621,MRPS31,MTRF1,NAA16,NUFIP1,OR7E37P,RGCC,SERP2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SUGT1P3,TNFSF11,TPT1,TPT1-AS1,TPTE2P5,TSC22D1,TSC22D1-AS1,VWA8,VWA8-AS1,WBP4,ZC3H13 chr13 41038960 41433221 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 FOXO1,LINC00598,MIR320D1,MIR621,MRPS31,SLC25A15,TPTE2P5 chr13 41038961 41433221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXO1,LINC00598,MIR320D1,MIR621,MRPS31,SLC25A15,TPTE2P5 chr13 41038961 41433221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXO1,LINC00598,MIR320D1,MIR621,MRPS31,SLC25A15,TPTE2P5 chr13 41038961 41433256 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FOXO1,LINC00598,MIR320D1,MIR621,MRPS31,SLC25A15,TPTE2P5 chr13 41038973 41433221 Gain and loss Pancreatic cancer SNP array 17952125 FOXO1,LINC00598,MIR320D1,MIR621,MRPS31,SLC25A15,TPTE2P5 chr13 41053101 41053437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00598 chr13 41064296 41064375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 41124003 42112082 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-935K arrays 21546498 ELF1,FOXO1,KBTBD6,KBTBD7,MIR320D1,MIR621,MRPS31,MTRF1,NAA16,OR7E37P,RGCC,SLC25A15,SUGT1P3,TPTE2P5,WBP4 chr13 41164324 62500271 Copy number Lung cancer paired-end sequencing 18438408 AKAP11,ALG11,ARL11,ATP7B,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,ELF1,ENOX1,EPSTI1,ESD,FAM124A,FAM194B,FAM216B,FNDC3A,FOXO1,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KBTBD6,KBTBD7,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LECT1,LINC00282,LINC00284,LINC00330,LINC00441,LINC00462,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR320D1,MIR3613,MIR4703,MIR5006,MIR5007,MIR5693,MIR621,MIR759,MLNR,MRPS31,MRPS31P3,MTRF1,NAA16,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E37P,PCDH17,PCDH20,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RGCC,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A15,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,SUGT1P3,TDRD3,THSD1,TNFSF11,TPT1,TPT1-AS1,TPTE2P3,TPTE2P5,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,VWA8,VWA8-AS1,WBP4,WDFY2,ZC3H13 chr13 41166858 41191966 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FOXO1 chr13 41167327 41182276 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FOXO1 chr13 41279813 41280080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 41279813 41280080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 41279813 41280110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 41305653 41475788 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 MIR621,MRPS31,SLC25A15,TPTE2P5 chr1 34132797 34132897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 41377254 41377360 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A15,TPTE2P5 chr13 41377254 41377360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A15,TPTE2P5 chr13 41378173 41788109 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ELF1,KBTBD6,KBTBD7,MIR621,SLC25A15,SUGT1P3,TPTE2P5,WBP4 chr13 41397734 41399485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPTE2P5 chr13 41397785 41398484 Gain and loss Pancreatic cancer SNP array 17952125 TPTE2P5 chr13 41475566 41475773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPTE2P5 chr13 41506054 41593507 Deletion Prostate cancer aCGH 22341455 ELF1 chr13 41513997 41544425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ELF1 chr13 41520889 41701888 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ELF1,KBTBD6,WBP4 chr13 41520889 41701888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELF1,KBTBD6,WBP4 chr13 41520889 41701888 Gain and loss Pancreatic cancer SNP array 17952125 ELF1,KBTBD6,WBP4 chr13 41520889 41701888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELF1,KBTBD6,WBP4 chr13 41541068 41543229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELF1 chr13 41542033 41543229 Gain and loss Pancreatic cancer SNP array 17952125 ELF1 chr13 41600572 41600672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 41635696 41658138 Deletion Prostate cancer aCGH 22341455 WBP4 chr13 41653953 41654204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WBP4 chr13 41653953 41654225 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WBP4 chr1 3416649 3446171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEGF6 chr13 41691429 41691902 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 41728009 41728711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 41731907 41731982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 41744289 41795402 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KBTBD7,MTRF1 chr13 41744289 41795402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KBTBD7,MTRF1 chr13 41744289 41795402 Gain and loss Pancreatic cancer SNP array 17952125 KBTBD7,MTRF1 chr13 41744289 41795402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KBTBD7,MTRF1 chr13 41765710 41768701 Deletion Prostate cancer aCGH 22341455 KBTBD7 chr13 41774644 41775644 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 34177723 34177823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 41790515 41837712 Deletion Prostate cancer aCGH 22341455 MTRF1 chr13 41841395 41841793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 41841398 41841793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 41844048 41844378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 41881355 41911888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAA16 chr1 34188435 34188530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 41885340 41951165 Deletion Prostate cancer aCGH 22341455 NAA16 chr1 34192125 34192215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 41951192 41951835 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 41951216 41951830 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 42031541 42045012 Deletion Prostate cancer aCGH 22341455 RGCC chr13 42034872 42080148 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RGCC chr13 42034872 42080148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGCC chr13 42034872 42080148 Gain and loss Pancreatic cancer SNP array 17952125 RGCC chr13 42034872 42080148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGCC chr13 42042604 42044458 Loss Normal 244K array 17666407 RGCC chr13 42043715 42080148 Gain or loss Breast cancer - 20668451 RGCC chr13 42043715 42080148 Gain or loss Cancer - 20668451 RGCC chr13 42043715 42080148 Gain or loss Lung cancer - 20668451 RGCC chr13 42043715 42080148 Gain or loss Ovarian cancer - 20668451 RGCC chr13 42043715 42080148 Gain or loss Pancreas cancer - 20668451 RGCC chr13 42043715 42080148 Gain or loss Prostate cancer - 20668451 RGCC chr13 42065765 42065865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 42068625 42068657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 42140960 42535220 Deletion Prostate cancer aCGH 22341455 MIR5006,VWA8 chr13 42170331 42194527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VWA8 chr13 42193434 42713123 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DGKH,VWA8,VWA8-AS1 chr13 42253751 42263683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VWA8 chr13 42253751 42263683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWA8 chr13 42253751 42263683 Gain and loss Pancreatic cancer SNP array 17952125 VWA8 chr13 42253751 42263683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA8 chr13 42280242 42771921 Gain Normal 244K array 17666407 DGKH,VWA8,VWA8-AS1 chr13 42313804 42316983 Loss Normal Birdsuite, version 1.5.2 22087296 VWA8 chr13 42316983 42322187 Loss Normal Birdsuite, version 1.5.2 22087296 VWA8 chr13 42356557 42356657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWA8 chr13 42358525 42464377 Gain and loss Pancreatic cancer SNP array 17952125 VWA8 chr13 42360121 42464377 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 VWA8 chr13 42360123 42464377 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VWA8 chr13 42360123 42464377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWA8 chr13 42360123 42464377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA8 chr13 42393686 42675338 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DGKH,VWA8,VWA8-AS1 chr13 42405994 42407028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA8 chr13 42435601 42441400 Deletion Glioma mate-paired sequence 20126413 VWA8 chr13 42437795 42439447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VWA8 chr13 42447586 42632690 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DGKH,VWA8,VWA8-AS1 chr13 42447865 42586103 Duplication Schizophrenia NimbleGen HD2 platform 21346763 VWA8,VWA8-AS1 chr1 34247644 34247732 Gain and loss Pancreatic cancer SNP array 17952125 CSMD2 chr1 34247644 34247756 Gain and loss Pancreatic cancer SNP array 17952125 CSMD2 chr13 42492443 42492543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWA8 chr13 42495339 42579582 Gain and loss Pancreatic cancer SNP array 17952125 VWA8,VWA8-AS1 chr13 42495361 42581306 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 VWA8,VWA8-AS1 chr13 42495362 42581304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VWA8,VWA8-AS1 chr13 42495362 42581304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWA8,VWA8-AS1 chr13 42495362 42581304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA8,VWA8-AS1 chr13 42495909 42507129 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 VWA8 chr13 42495909 42507129 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 VWA8 chr13 42497548 42501093 Gain Normal Birdsuite, version 1.5.2 22087296 VWA8 chr13 42508642 42640864 Duplication Normal Affymetrix 6.0 microarrays 20967226 DGKH,VWA8,VWA8-AS1 chr13 42564370 42586916 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr1 3425673 3442684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEGF6 chr13 42568370 42610053 Duplication Honadal dysgenesis Affymetrix Genome-Wide Human SNP Array 6.0 21408189 NOT_FOUND chr13 42571328 42571552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 42571546 42571775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 42571548 42571660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 42609020 42609053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 42622888 42803887 Deletion Prostate cancer aCGH 22341455 DGKH chr13 42685654 43259044 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKAP11,DGKH,TNFSF11 chr13 42685665 43259106 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AKAP11,DGKH,TNFSF11 chr13 42685704 43259044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKAP11,DGKH,TNFSF11 chr13 42685704 43259044 Gain and loss Pancreatic cancer SNP array 17952125 AKAP11,DGKH,TNFSF11 chr13 42685704 43259044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP11,DGKH,TNFSF11 chr13 42699078 42699149 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DGKH chr13 42726653 42726787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGKH chr13 42726799 42727009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGKH chr13 42846288 42897401 Deletion Prostate cancer aCGH 22341455 AKAP11 chr13 42866661 42866961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP11 chr13 42890808 42890854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP11 chr13 42892946 42893046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP11 chr13 42895356 42895456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP11 chr13 42936104 42969886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 42942330 42942523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 3429641 3471169 Gain and loss Pancreatic cancer SNP array 17952125 MEGF6 chr13 42967620 42967720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 34301577 34353822 Gain and loss Pancreatic cancer SNP array 17952125 CSMD2,HMGB4,LOC402779 chr13 43073447 43073497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 43105085 43105185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 43136871 43182148 Deletion Prostate cancer aCGH 22341455 TNFSF11 chr13 43207406 43207491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 43278307 43278651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 43278332 43419626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM216B chr13 43278332 43419626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM216B chr13 43281509 43315107 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 43293153 43293252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 43308488 43351826 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 43309379 43351827 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 43309379 43351827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 43309379 43351827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 43328576 43341512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 43339834 43743243 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAJC15,EPSTI1,FAM216B chr13 43351419 43366068 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 FAM216B chr13 43351969 43364340 Gain and loss Pancreatic cancer SNP array 17952125 FAM216B chr13 43351969 43364367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM216B chr13 43351969 43364367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM216B chr13 43351969 43364367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM216B chr13 43355685 43365684 Deletion Prostate cancer aCGH 22341455 FAM216B chr1 34340762 34340856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CSMD2,LOC402779 chr1 34340806 34340862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CSMD2,LOC402779 chr13 43440560 43443335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 43440560 43443335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 43440560 43443335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 43441001 43443500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 43462121 43566376 Deletion Prostate cancer aCGH 22341455 EPSTI1 chr13 43466946 43467046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPSTI1 chr1 3434897 3452426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEGF6 chr1 34351137 34351251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSMD2 chr1 34353210 34353310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 43583946 43743243 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 DNAJC15 chr13 43592768 43605092 Copy number Gastric cancer Human cDNA microarrays 17229543 DNAJC15 chr13 43597361 43683305 Deletion Prostate cancer aCGH 22341455 DNAJC15 chr13 43598183 43629082 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNAJC15 chr13 43598183 43632696 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNAJC15 chr13 43605611 43632696 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNAJC15 chr13 43606720 43632696 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNAJC15 chr13 43615679 43633393 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAJC15 chr13 43615679 43633393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC15 chr13 43632737 43632991 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC15 chr13 43692360 43696382 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr13 43706222 43706297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 43727300 43903713 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ENOX1 chr13 43747912 43905697 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ENOX1 chr13 43747925 43905697 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ENOX1 chr13 43750823 43783826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 43758000 43895000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 ENOX1 chr13 43759994 43800747 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENOX1 chr13 43771363 43771463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 43780143 43780243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 43787660 44361105 Deletion Prostate cancer aCGH 22341455 ENOX1 chr13 43810694 50242795 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1008K arrays 21546498 ARL11,CAB39L,CCDC122,CDADC1,COG3,CPB2,CPB2-AS1,CYSLTR2,EBPL,ENOX1,ESD,FAM194B,FNDC3A,GTF2F2,HTR2A,ITM2B,KCTD4,KIAA0226L,KIAA1704,LACC1,LCP1,LINC00284,LINC00330,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,NUFIP1,PHF11,RB1,RCBTB1,RCBTB2,SERP2,SETDB2,SIAH3,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SUCLA2,TPT1,TPT1-AS1,TSC22D1,TSC22D1-AS1,ZC3H13 chr13 43843520 43843990 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ENOX1 chr13 43845977 43869850 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ENOX1 chr13 43845977 43869850 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ENOX1 chr13 43845978 43869849 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ENOX1 chr13 43845978 43869849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENOX1 chr13 43845978 43869849 Gain and loss Pancreatic cancer SNP array 17952125 ENOX1 chr13 43845978 43869849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENOX1 chr13 43905654 44048701 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ENOX1 chr13 43905654 44048701 Copy number Gastric cancer Human cDNA microarrays 17229543 ENOX1 chr13 43905661 44048701 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ENOX1 chr13 43905661 44048701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENOX1 chr13 43905661 44048701 Deletion T-cell lymphomas Array-CGH 22341440 ENOX1 chr13 43905661 44048701 Gain and loss Pancreatic cancer SNP array 17952125 ENOX1 chr13 43905661 44048701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENOX1 chr13 43924737 43924958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENOX1 chr13 43940433 43941105 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ENOX1 chr13 43940562 43941120 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ENOX1 chr13 43965419 43966419 Gain Osteosarcoma References 21215367 ENOX1 chr13 43974532 43975532 Loss Osteosarcoma References 21215367 ENOX1 chr13 43974978 43975978 Gain Osteosarcoma References 21215367 ENOX1 chr1 34400000 39600000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADPRHL2,AKIRIN1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,INPP5B,KIAA0319L,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,POU3F1,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34400000 39600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADPRHL2,AKIRIN1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,INPP5B,KIAA0319L,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,POU3F1,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34400000 39600000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADPRHL2,AKIRIN1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,INPP5B,KIAA0319L,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,POU3F1,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34400000 39600000 Copy number Normal - 20680643 ADPRHL2,AKIRIN1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,INPP5B,KIAA0319L,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,POU3F1,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34400000 39600000 Copy number Normal - 21701786 ADPRHL2,AKIRIN1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,INPP5B,KIAA0319L,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,POU3F1,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34400000 39600000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ADPRHL2,AKIRIN1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,INPP5B,KIAA0319L,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,POU3F1,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34400000 39600000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ADPRHL2,AKIRIN1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,INPP5B,KIAA0319L,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,POU3F1,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34400000 39600000 Loss Intracranial ependymoma matrix-based CGH 16609018 ADPRHL2,AKIRIN1,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,INPP5B,KIAA0319L,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,POU3F1,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34400000 43900000 Amplification Medulloblastoma SNP arrays 21979893 ADPRHL2,AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf50,C1orf94,CAP1,CCDC23,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DNALI1,EBNA1BP2,EDN2,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,INPP5B,KCNQ4,KIAA0319L,KIAA0754,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MPL,MRPS15,MTF1,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PSMB2,RHBDL2,RIMKLA,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,STK40,SZT2,TEKT2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TRAPPC3,TRIT1,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 34400000 43900000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADPRHL2,AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf50,C1orf94,CAP1,CCDC23,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DNALI1,EBNA1BP2,EDN2,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,INPP5B,KCNQ4,KIAA0319L,KIAA0754,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MPL,MRPS15,MTF1,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PSMB2,RHBDL2,RIMKLA,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,STK40,SZT2,TEKT2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TRAPPC3,TRIT1,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 34400000 43900000 Microdeletion Autism aCGH 19546099 ADPRHL2,AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf50,C1orf94,CAP1,CCDC23,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DNALI1,EBNA1BP2,EDN2,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,INPP5B,KCNQ4,KIAA0319L,KIAA0754,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MPL,MRPS15,MTF1,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PSMB2,RHBDL2,RIMKLA,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,STK40,SZT2,TEKT2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TRAPPC3,TRIT1,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 34400000 43900000 Microdeletion Non-syndromic sensorineural hearing loss CGH 17489814 ADPRHL2,AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf50,C1orf94,CAP1,CCDC23,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DNALI1,EBNA1BP2,EDN2,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,INPP5B,KCNQ4,KIAA0319L,KIAA0754,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MPL,MRPS15,MTF1,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PSMB2,RHBDL2,RIMKLA,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,STK40,SZT2,TEKT2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TRAPPC3,TRIT1,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 34400000 46500000 Amplification Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ADPRHL2,AKIRIN1,AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BMP8A,BMP8B,BTBD19,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf94,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DMAP1,DNALI1,DPH2,EBNA1BP2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERI3,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GPBP1L1,GRIK3,GUCA2A,GUCA2B,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HYI,INPP5B,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0319L,KIAA0754,KIF2C,KLF17,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC400752,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MIR5584,MMACHC,MPL,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,NASP,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,PLK3,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PSMB2,PTCH2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,STK40,SZT2,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TMEM53,TMEM69,TOE1,TRAPPC3,TRIT1,UROD,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5 chr1 34400000 46500000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ADPRHL2,AKIRIN1,AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BMP8A,BMP8B,BTBD19,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf94,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DMAP1,DNALI1,DPH2,EBNA1BP2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERI3,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GPBP1L1,GRIK3,GUCA2A,GUCA2B,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HYI,INPP5B,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0319L,KIAA0754,KIF2C,KLF17,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC400752,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MIR5584,MMACHC,MPL,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,NASP,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,PLK3,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PSMB2,PTCH2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,STK40,SZT2,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TMEM53,TMEM69,TOE1,TRAPPC3,TRIT1,UROD,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5 chr1 34400000 46500000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 ADPRHL2,AKIRIN1,AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BMP8A,BMP8B,BTBD19,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf94,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DMAP1,DNALI1,DPH2,EBNA1BP2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERI3,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GPBP1L1,GRIK3,GUCA2A,GUCA2B,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HYI,INPP5B,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0319L,KIAA0754,KIF2C,KLF17,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC400752,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MIR5584,MMACHC,MPL,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,NASP,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,PLK3,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PSMB2,PTCH2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,STK40,SZT2,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TMEM53,TMEM69,TOE1,TRAPPC3,TRIT1,UROD,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5 chr1 34400000 46500000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ADPRHL2,AKIRIN1,AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BMP8A,BMP8B,BTBD19,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf94,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DMAP1,DNALI1,DPH2,EBNA1BP2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERI3,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GPBP1L1,GRIK3,GUCA2A,GUCA2B,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HYI,INPP5B,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0319L,KIAA0754,KIF2C,KLF17,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC400752,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MIR5584,MMACHC,MPL,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,NASP,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,PLK3,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PSMB2,PTCH2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,STK40,SZT2,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TMEM53,TMEM69,TOE1,TRAPPC3,TRIT1,UROD,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5 chr1 34400000 46500000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ADPRHL2,AKIRIN1,AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BMP8A,BMP8B,BTBD19,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf94,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DMAP1,DNALI1,DPH2,EBNA1BP2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERI3,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GPBP1L1,GRIK3,GUCA2A,GUCA2B,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HYI,INPP5B,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0319L,KIAA0754,KIF2C,KLF17,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC400752,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MIR5584,MMACHC,MPL,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,NASP,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,PLK3,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PSMB2,PTCH2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,STK40,SZT2,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TMEM53,TMEM69,TOE1,TRAPPC3,TRIT1,UROD,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5 chr1 34400000 51300000 Copy number Muscle-eye-brain disease Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ADPRHL2,AGBL4,AKIRIN1,AKR1A1,ARTN,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BEND5,BEST4,BMP8A,BMP8B,BTBD19,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf94,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,CMPK1,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DEM1,DLGAP3,DMAP1,DMBX1,DMRTA2,DNALI1,DPH2,EBNA1BP2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,ELAVL4,ELOVL1,EPHA10,ERI3,ERMAP,FAAH,FAF1,FAM176B,FAM183A,FHL3,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GPBP1L1,GRIK3,GUCA2A,GUCA2B,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HYI,INPP5B,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIF2C,KLF17,KNCN,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC400752,LOC653160,LOC728431,LOC729041,LRRC41,LSM10,LURAP1,MACF1,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,NASP,NCDN,NDUFS5,NFYC,NSUN4,NT5C1A,OSCP1,OXCT2,PABPC4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PLK3,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PSMB2,PTCH2,PTPRF,RAD54L,RHBDL2,RIMKLA,RIMS3,RLF,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SKINTL,SLC2A1,SLC2A1-AS1,SLC5A9,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,SPATA6,ST3GAL3,STIL,STK40,SZT2,TAL1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TMEM53,TMEM69,TOE1,TRABD2B,TRAPPC3,TRIT1,TSPAN1,UQCRH,UROD,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5 chr1 34400000 60900000 Loss Non-small cell lung cancer - 21385341 ACOT11,ADPRHL2,AGBL4,AKIRIN1,AKR1A1,ARTN,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BEND5,BEST4,BMP8A,BMP8B,BSND,BTBD19,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf168,C1orf177,C1orf185,C1orf210,C1orf212,C1orf216,C1orf228,C1orf50,C1orf87,C1orf94,C8A,C8B,CAP1,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CDCP2,CDKN2C,CITED4,CLDN19,CLSPN,CMPK1,COL8A2,COL9A2,CPT2,CSF3R,CSMD2,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DEM1,DHCR24,DIO1,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNALI1,DPH2,EBNA1BP2,ECHDC2,EDN2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,ELAVL4,ELOVL1,EPHA10,EPS15,ERI3,ERMAP,FAAH,FAF1,FAM151A,FAM159A,FAM176B,FAM183A,FGGY,FHL3,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GNL2,GPBP1L1,GPX7,GRIK3,GUCA2A,GUCA2B,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HIVEP3,HOOK1,HPCAL4,HPDL,HSD52,HSPB11,HYI,INPP5B,IPO13,IPP,JUN,KCNQ4,KDM4A,KDM4A-AS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIF2C,KLF17,KNCN,KTI12,LDLRAD1,LEPRE1,LOC100129924,LOC100130557,LOC100131060,LOC100507564,LOC100507634,LOC339442,LOC400752,LOC653160,LOC728431,LOC729041,LRP8,LRRC41,LRRC42,LSM10,LURAP1,MACF1,MAGOH,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR4422,MIR4711,MIR4781,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,MYSM1,NASP,NCDN,NDUFS5,NFYC,NRD1,NSUN4,NT5C1A,OMA1,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PLK3,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PRKAA2,PRPF38A,PSMB2,PTCH2,PTPRF,RAB3B,RAD54L,RHBDL2,RIMKLA,RIMS3,RLF,RNF11,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SCP2,SELRC1,SF3A3,SFPQ,SH3D21,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC5A9,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,SPATA6,SSBP3,ST3GAL3,STIL,STK40,SZT2,TACSTD2,TAL1,TCEANC2,TCTEX1D4,TEKT2,TESK2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TMEM48,TMEM53,TMEM59,TMEM61,TMEM69,TOE1,TRABD2B,TRAPPC3,TRIT1,TSPAN1,TTC22,TTC39A,TTC4,TXNDC12,UQCRH,UROD,USP24,UTP11L,WDR65,YBX1,YIPF1,YRDC,ZC3H12A,ZCCHC11,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5,ZYG11A,ZYG11B chr13 44044843 44044943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENOX1 chr1 34405071 34457319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSMD2 chr1 34405071 34457319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSMD2 chr13 44062756 52079499 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-803K arrays 21546498 ARL11,CAB39L,CCDC122,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ENOX1,ESD,FAM124A,FAM194B,FNDC3A,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LACC1,LCP1,LINC00284,LINC00330,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR5693,MLNR,NUDT15,NUFIP1,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,TPT1,TPT1-AS1,TRIM13,TSC22D1,TSC22D1-AS1,ZC3H13 chr13 44063001 44064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENOX1 chr13 44066994 44068218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENOX1 chr13 44100705 44100809 Gain and loss Pancreatic cancer SNP array 17952125 ENOX1 chr13 44100705 44100809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENOX1 chr1 34414054 34414137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSMD2 chr13 44187357 46212897 Loss Autism - 20841430 CCDC122,COG3,ENOX1,FAM194B,GTF2F2,KCTD4,KIAA1704,LACC1,LINC00284,LINC00330,NUFIP1,SERP2,SLC25A30,SMIM2-IT1,SNORA31,TPT1,TPT1-AS1,TSC22D1,TSC22D1-AS1 chr13 44249070 44249155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENOX1 chr1 34425063 34455316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSMD2 chr1 34431652 34431752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 44345667 45301991 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC122,ENOX1,LACC1,LINC00284,SERP2,SMIM2-IT1,TSC22D1,TSC22D1-AS1 chr13 44410487 44453825 Deletion Prostate cancer aCGH 22341455 CCDC122,LACC1 chr13 44411384 44461571 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC122,LACC1 chr13 44411384 44461571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC122,LACC1 chr13 44411384 44461571 Gain and loss Pancreatic cancer SNP array 17952125 CCDC122,LACC1 chr13 44411384 44461571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC122,LACC1 chr13 44439658 92188422 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ALG11,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC122,CCDC70,CDADC1,CKAP2,CLN5,COG3,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,EDNRB,ESD,FAM124A,FAM194B,FBXL3,FNDC3A,GPC5,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,IRG1,ITM2B,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LACC1,LCP1,LECT1,LINC00282,LINC00284,LINC00330,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00446,LINC00462,LINC00550,LINC00558,LINC00559,LINC00563,LMO7,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3613,MIR3665,MIR4500,MIR4500HG,MIR4703,MIR5007,MIR5693,MIR622,MIR759,MIR92A1,MLNR,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERP2,SERPINE3,SETDB2,SIAH3,SLAIN1,SLC25A30,SLITRK1,SLITRK5,SLITRK6,SMIM2-IT1,SNORA31,SPERT,SPRY2,SPRYD7,ST13P4,SUCLA2,SUGT1,TBC1D4,TDRD3,THSD1,TPT1,TPT1-AS1,TPTE2P3,TRIM13,TSC22D1,TSC22D1-AS1,UCHL3,UTP14C,VPS36,WDFY2,ZC3H13 chr13 44453419 44468067 Deletion Prostate cancer aCGH 22341455 CCDC122,LACC1 chr13 44454294 44455294 Loss Osteosarcoma References 21215367 LACC1 chr13 44461687 44505742 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LACC1 chr13 44461687 44505742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LACC1 chr13 44461687 44505742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LACC1 chr13 44461739 44505742 Gain and loss Pancreatic cancer SNP array 17952125 LACC1 chr13 44474285 44474580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44474285 44474582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44498113 44554362 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr1 34451346 34452346 Gain Chordoma References 21215367 CSMD2 chr1 3445258 3445328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF6 chr13 44532864 44533102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44532864 44533189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44532864 44533198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44555837 51215445 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1002K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,ESD,FAM194B,FNDC3A,GTF2F2,HTR2A,ITM2B,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LCP1,LINC00284,LINC00330,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,NUFIP1,PHF11,RB1,RCBTB1,RCBTB2,SERP2,SETDB2,SIAH3,SLC25A30,SMIM2-IT1,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,TPT1,TPT1-AS1,TRIM13,TSC22D1,TSC22D1-AS1,ZC3H13 chr13 44592630 44756239 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 LINC00284,SMIM2-IT1 chr13 44592656 44756237 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00284,SMIM2-IT1 chr13 44592656 44756237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00284,SMIM2-IT1 chr13 44592656 44756237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00284,SMIM2-IT1 chr13 44592672 44756237 Gain and loss Pancreatic cancer SNP array 17952125 LINC00284,SMIM2-IT1 chr13 44595228 44595466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44595228 44595549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44595228 44595550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44609997 44610100 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44609998 44610100 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44628530 44628620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 44641748 44641848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 44664987 44673175 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 44664987 44673175 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr13 44664988 44666852 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 44664988 44673175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44664988 44673175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44665923 44666702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44674177 44674236 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr13 44686858 44687111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 44729686 44729761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMIM2-IT1 chr13 44772149 44772235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44786633 44786924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 44808452 44808581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44808452 44808581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44809008 44813347 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 44809008 44813347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44809008 44813347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44809303 44813297 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr13 44809313 44813318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44809615 44809726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44809615 44809744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44809615 44809744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44813480 44863857 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 44813480 44863857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44819224 44819294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 44840921 44863946 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 44841553 44858296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 44852001 44855000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 44859720 44863610 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 44859720 44863610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44859720 44863610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44862488 44863402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44862510 44863312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44865456 44890509 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 44865456 44890509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44865456 44890509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44865456 44890509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44868043 44890515 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr13 44876972 66735810 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-912K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LCP1,LECT1,LINC00282,LINC00330,LINC00441,LINC00462,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERP2,SERPINE3,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,TDRD3,THSD1,TPT1,TPT1-AS1,TPTE2P3,TRIM13,TSC22D1,TSC22D1-AS1,UTP14C,VPS36,WDFY2,ZC3H13 chr13 44891034 44891223 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 44902001 44905500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 44908257 44908796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44908362 44908798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44936983 44937453 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 44936983 44937453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 44936983 44937453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 44937071 45008761 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SERP2,TSC22D1 chr13 44937072 45008760 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SERP2,TSC22D1 chr13 44937072 45008760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERP2,TSC22D1 chr13 44937072 45008760 Gain and loss Pancreatic cancer SNP array 17952125 SERP2,TSC22D1 chr13 44937072 45008760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERP2,TSC22D1 chr13 44947977 44971849 Deletion Prostate cancer aCGH 22341455 SERP2 chr13 44970503 44970919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SERP2 chr13 44973412 44973465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 44983401 45944800 Copy number Normal ReadDepth: A Parallel R Package 21305028 GTF2F2,KCTD4,KIAA1704,LINC00330,NUFIP1,SNORA31,TPT1,TPT1-AS1,TSC22D1,TSC22D1-AS1 chr13 45004260 45004360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 45007654 45150700 Deletion Prostate cancer aCGH 22341455 TSC22D1,TSC22D1-AS1 chr13 45013433 45087875 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSC22D1 chr13 45013433 45087875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSC22D1 chr13 45013433 45087875 Gain and loss Pancreatic cancer SNP array 17952125 TSC22D1 chr13 45013433 45087875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSC22D1 chr13 45018534 46646226 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 COG3,CPB2,CPB2-AS1,FAM194B,GTF2F2,KCTD4,KIAA1704,LINC00330,NUFIP1,SIAH3,SLC25A30,SNORA31,SPERT,TPT1,TPT1-AS1,TSC22D1,TSC22D1-AS1,ZC3H13 chr13 45023618 45023738 Gain and loss Pancreatic cancer SNP array 17952125 TSC22D1 chr13 45023620 45023739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSC22D1 chr13 45023624 45023738 Gain and loss Pancreatic cancer SNP array 17952125 TSC22D1 chr13 45024999 45025272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSC22D1 chr13 45117398 45167846 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 TSC22D1,TSC22D1-AS1 chr13 45135949 45136024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSC22D1 chr13 45143981 45144527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSC22D1 chr13 45154083 45432647 Deletion Prostate cancer array-based comparativegenomic hybridization 21147910 LINC00330,TSC22D1-AS1 chr13 45159684 45160605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 45167078 76782310 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ALG11,ARL11,ATP7B,ATXN8OS,BORA,C13orf45,CAB39L,CCDC70,CDADC1,CKAP2,COG3,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KCTD4,KIAA0226L,KIAA1704,KLF12,KLF5,KLHL1,KPNA3,LCP1,LECT1,LINC00282,LINC00330,LINC00347,LINC00348,LINC00381,LINC00441,LINC00462,LINC00550,LINC00558,LINC00563,LMO7,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,MZT1,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,TBC1D4,TDRD3,THSD1,TPT1,TPT1-AS1,TPTE2P3,TRIM13,UCHL3,UTP14C,VPS36,WDFY2,ZC3H13 chr13 45167856 45313975 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 45174447 45186694 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 45174447 45186694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 45174447 45186694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 45200000 45800000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 GTF2F2,KCTD4,KIAA1704,LINC00330,NUFIP1 chr13 45200000 59600000 Copy number Intracranial aneurysm Affymetrix GeneChip Human Mapping 250K StyI Array 19064780 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LCP1,LECT1,LINC00282,LINC00330,LINC00441,LINC00462,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,NUFIP1,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPT1,TPT1-AS1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2,ZC3H13 chr13 45204218 45204464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 45204218 45204464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 45252421 45323847 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 45252421 45323847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 45252421 45323847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 45252421 45323847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 45264845 45309417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 34532640 34577764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSMD2 chr13 45363845 45363938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 45398782 45398874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 45410639 50505323 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-863K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,EBPL,ESD,FAM194B,FNDC3A,GTF2F2,HTR2A,ITM2B,KCTD4,KIAA0226L,KIAA1704,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,NUFIP1,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,SUCLA2,TPT1,TPT1-AS1,ZC3H13 chr1 34541217 34541317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 45422260 45422330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 45426383 45426616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 45426601 45524895 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NUFIP1 chr13 45426601 45524895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUFIP1 chr13 45426601 45524895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUFIP1 chr13 45427806 45524895 Gain and loss Pancreatic cancer SNP array 17952125 NUFIP1 chr13 45475581 45475675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 45501864 45545733 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NUFIP1 chr13 45510415 45510515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 45511205 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-821K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CYSLTR2,EBPL,ESD,FAM194B,FNDC3A,GTF2F2,HTR2A,ITM2B,KCTD4,KIAA0226L,KIAA1704,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,NUFIP1,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SUCLA2,TPT1,TPT1-AS1,ZC3H13 chr13 45513383 45563612 Deletion Prostate cancer aCGH 22341455 NUFIP1 chr13 45525323 45577169 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIAA1704,NUFIP1 chr13 45525323 45577169 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1704,NUFIP1 chr13 45525323 45577212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1704,NUFIP1 chr13 45525323 45577212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1704,NUFIP1 chr13 45536728 45536931 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NUFIP1 chr13 45563686 45602404 Deletion Prostate cancer aCGH 22341455 KIAA1704 chr13 45578358 50539980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-802K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,EBPL,ESD,FAM194B,FNDC3A,GTF2F2,HTR2A,ITM2B,KCTD4,KIAA0226L,KIAA1704,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,SUCLA2,TPT1,TPT1-AS1,ZC3H13 chr13 45578358 51971489 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-772K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KCTD4,KIAA0226L,KIAA1704,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,TPT1,TPT1-AS1,TRIM13,ZC3H13 chr13 45598060 45654386 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1704 chr13 45598060 45683484 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIAA1704 chr13 45598060 45683484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1704 chr13 45598060 45683484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1704 chr13 45617753 45618078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 45637710 45637768 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr13 45637710 66092710 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KCTD4,KIAA0226L,KPNA3,LCP1,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,TDRD3,THSD1,TPT1,TPT1-AS1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2,ZC3H13 chr13 45641594 45641880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 45641594 45641880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 45641595 45641884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 45650469 45651681 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 45671377 51971489 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-779K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GTF2F2,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KCTD4,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,TPT1,TPT1-AS1,TRIM13,ZC3H13 chr13 45682003 45682102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 45684084 45739071 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GTF2F2 chr13 45684084 45739071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2F2 chr13 45684084 45739071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2F2 chr1 34569385 35804738 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C1orf212,C1orf94,CSMD2,DLGAP3,GJA4,GJB3,GJB4,GJB5,LOC653160,SFPQ,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr13 45694630 45858239 Deletion Prostate cancer aCGH 22341455 GTF2F2,KCTD4 chr13 45699746 45748933 Gain and loss Pancreatic cancer SNP array 17952125 GTF2F2 chr13 45707808 45707909 Gain and loss Pancreatic cancer SNP array 17952125 GTF2F2 chr13 45707808 45707909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2F2 chr13 45712058 45712158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTF2F2 chr13 45725302 46486503 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-878K arrays 21546498 COG3,FAM194B,GTF2F2,KCTD4,SIAH3,SLC25A30,SNORA31,SPERT,TPT1,TPT1-AS1 chr13 45740639 45741022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GTF2F2 chr13 45742201 45742752 Gain and loss Pancreatic cancer SNP array 17952125 GTF2F2 chr13 45742201 45742758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2F2 chr13 45765041 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-971K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,EBPL,ESD,FAM194B,FNDC3A,GTF2F2,HTR2A,ITM2B,KCTD4,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,SUCLA2,TPT1,TPT1-AS1,ZC3H13 chr13 45766987 45775174 Deletion Prostate cancer aCGH 22341455 GTF2F2,KCTD4 chr13 45791701 50305483 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-886K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CYSLTR2,EBPL,ESD,FAM194B,FNDC3A,GTF2F2,HTR2A,ITM2B,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SUCLA2,TPT1,TPT1-AS1,ZC3H13 chr13 45791701 50539980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-873K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,EBPL,ESD,FAM194B,FNDC3A,GTF2F2,HTR2A,ITM2B,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,SUCLA2,TPT1,TPT1-AS1,ZC3H13 chr13 45804889 45805037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GTF2F2 chr13 45814140 45910326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2F2 chr13 45815100 45862148 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GTF2F2 chr13 45815103 45910326 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GTF2F2 chr13 45815103 45910326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2F2 chr13 45815103 45910326 Gain and loss Pancreatic cancer SNP array 17952125 GTF2F2 chr13 45815103 45910326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2F2 chr13 45816311 64871791 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-966K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GTF2F2,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SLC25A30,SNORA31,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,TDRD3,THSD1,TPT1,TPT1-AS1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2,ZC3H13 chr13 45839974 45840074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTF2F2 chr13 45846537 45846726 Gain and loss Pancreatic cancer SNP array 17952125 GTF2F2 chr13 45846537 45846726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2F2 chr13 45846540 45846726 Gain and loss Pancreatic cancer SNP array 17952125 GTF2F2 chr13 45878000 45899026 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr13 45882591 45882693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 45900000 46200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 COG3,FAM194B,SLC25A30,SNORA31,TPT1,TPT1-AS1 chr13 45911303 45915296 Deletion Prostate cancer aCGH 22341455 SNORA31,TPT1 chr13 45911614 45911743 Deletion Prostate cancer aCGH 22341455 SNORA31,TPT1 chr13 45918884 45946900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TPT1-AS1 chr1 34592742 34592842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 45932745 45933257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPT1-AS1 chr13 45944801 47007400 Copy number Normal ReadDepth: A Parallel R Package 21305028 COG3,CPB2,CPB2-AS1,FAM194B,KIAA0226L,LCP1,LINC00563,SIAH3,SLC25A30,SPERT,TPT1-AS1,ZC3H13 chr13 45962993 45963395 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TPT1-AS1 chr13 45963033 45963393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPT1-AS1 chr13 45967450 45992515 Deletion Prostate cancer aCGH 22341455 SLC25A30 chr1 34596915 34597015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSMD2 chr13 45977254 45977572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A30 chr13 45993156 50824411 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-834K arrays 21546498 ARL11,CAB39L,CDADC1,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,ESD,FAM194B,FNDC3A,HTR2A,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SPERT,SPRYD7,ST13P4,SUCLA2,TRIM13,ZC3H13 chr13 45995023 47004793 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 COG3,CPB2,CPB2-AS1,FAM194B,KIAA0226L,LCP1,LINC00563,SIAH3,SPERT,ZC3H13 chr13 45995536 71378262 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-890K arrays 21546498 ALG11,ARL11,ATP7B,ATXN8OS,CAB39L,CCDC70,CDADC1,CKAP2,COG3,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KLHL1,KPNA3,LCP1,LECT1,LINC00282,LINC00441,LINC00462,LINC00550,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,TDRD3,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2,ZC3H13 chr13 45997999 76643951 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-931K arrays 21546498 ALG11,ARL11,ATP7B,ATXN8OS,BORA,C13orf45,CAB39L,CCDC70,CDADC1,CKAP2,COG3,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FAM194B,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KLF12,KLF5,KLHL1,KPNA3,LCP1,LECT1,LINC00282,LINC00347,LINC00348,LINC00381,LINC00441,LINC00462,LINC00550,LINC00558,LINC00563,LMO7,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,MZT1,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,TBC1D4,TDRD3,THSD1,TPTE2P3,TRIM13,UCHL3,UTP14C,VPS36,WDFY2,ZC3H13 chr1 34600000 40100000 Amplification Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ADPRHL2,AKIRIN1,BMP8A,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,HEYL,INPP5B,KIAA0319L,KIAA0754,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,PABPC4,POU3F1,PPIEL,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,SNORA55,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34600000 40100000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADPRHL2,AKIRIN1,BMP8A,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,HEYL,INPP5B,KIAA0319L,KIAA0754,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,PABPC4,POU3F1,PPIEL,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,SNORA55,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34600000 40100000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADPRHL2,AKIRIN1,BMP8A,C1orf109,C1orf122,C1orf212,C1orf216,C1orf94,CDCA8,CLSPN,COL8A2,CSF3R,CSMD2,DLGAP3,DNALI1,EIF2C1,EIF2C3,EIF2C4,EPHA10,FAM176B,FHL3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,HEYL,INPP5B,KIAA0319L,KIAA0754,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,NCDN,NDUFS5,OSCP1,PABPC4,POU3F1,PPIEL,PSMB2,RHBDL2,RRAGC,RSPO1,SF3A3,SFPQ,SH3D21,SNIP1,SNORA55,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,UTP11L,YRDC,ZC3H12A,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 34600000 44100000 Amplification Merkel cell carcinoma real-time quantitative PCR 19020549 ADPRHL2,AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf50,C1orf94,CAP1,CCDC23,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DNALI1,EBNA1BP2,EDN2,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,HYI,INPP5B,KCNQ4,KIAA0319L,KIAA0754,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MPL,MRPS15,MTF1,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PSMB2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,STK40,SZT2,TEKT2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TRAPPC3,TRIT1,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 34600000 44100000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 ADPRHL2,AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf50,C1orf94,CAP1,CCDC23,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DNALI1,EBNA1BP2,EDN2,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,HYI,INPP5B,KCNQ4,KIAA0319L,KIAA0754,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MPL,MRPS15,MTF1,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PSMB2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,STK40,SZT2,TEKT2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TRAPPC3,TRIT1,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 34600000 44100000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ADPRHL2,AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf50,C1orf94,CAP1,CCDC23,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DNALI1,EBNA1BP2,EDN2,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,HYI,INPP5B,KCNQ4,KIAA0319L,KIAA0754,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MPL,MRPS15,MTF1,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PSMB2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,STK40,SZT2,TEKT2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TRAPPC3,TRIT1,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 34600000 44100000 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 ADPRHL2,AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,C1orf210,C1orf212,C1orf216,C1orf50,C1orf94,CAP1,CCDC23,CCDC30,CDC20,CDCA8,CITED4,CLDN19,CLSPN,COL8A2,COL9A2,CSF3R,CSMD2,CTPS1,DEM1,DLGAP3,DNALI1,EBNA1BP2,EDN2,EIF2C1,EIF2C3,EIF2C4,ELOVL1,EPHA10,ERMAP,FAM176B,FAM183A,FHL3,FOXJ3,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GNL2,GRIK3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,HYI,INPP5B,KCNQ4,KIAA0319L,KIAA0754,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC653160,LOC728431,LSM10,MACF1,MANEAL,MAP7D1,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MPL,MRPS15,MTF1,MYCBP,MYCL1,NCDN,NDUFS5,NFYC,NT5C1A,OSCP1,OXCT2,PABPC4,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PSMB2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SFPQ,SH3D21,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,STK40,SZT2,TEKT2,TFAP2E,THRAP3,TIE1,TMCO2,TMEM125,TRAPPC3,TRIT1,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr13 46014952 46175100 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COG3,FAM194B chr13 46025304 46222786 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COG3,FAM194B chr13 46025304 46222786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG3,FAM194B chr13 46025304 46222786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG3,FAM194B chr13 46025304 46223696 Gain and loss Pancreatic cancer SNP array 17952125 COG3,FAM194B chr13 46033625 46067367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COG3 chr13 46039070 46110759 Deletion Prostate cancer aCGH 22341455 COG3 chr13 46186579 50986539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-936K arrays 21546498 ARL11,CAB39L,CDADC1,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,ESD,FAM194B,FNDC3A,HTR2A,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SPERT,SPRYD7,ST13P4,SUCLA2,TRIM13,ZC3H13 chr13 46200000 109100000 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 A2LD1,ABCC4,ABHD13,ALG11,ARGLU1,ARL11,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf45,CAB39L,CCDC168,CCDC70,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCT,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ERCC5,ESD,FAM124A,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GUCY1B2,HNRNPA1L2,HS6ST3,HTR2A,INTS6,IPO5,IRG1,ITGBL1,ITM2B,KCNRG,KCTD12,KDELC1,KIAA0226L,KLF12,KLF5,KLHL1,KPNA3,LCP1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00441,LINC00443,LINC00446,LINC00460,LINC00462,LINC00550,LINC00551,LINC00558,LINC00559,LINC00563,LMO7,LPAR6,LRCH1,MBNL2,MED4,MED4-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3613,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR5693,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERPINE3,SETDB2,SIAH3,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPERT,SPRY2,SPRYD7,ST13P4,STK24,SUCLA2,SUGT1,TBC1D4,TDRD3,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,TRIM13,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZC3H13,ZIC2,ZIC5 chr13 46200000 48900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Copy number Prostate cancer - 21088497 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Deletion Glioblastoma multiforme 50K Xba SNP mapping arrays (Affymetrix) 21750150 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Loss Glioblastoma multiforme aCGH 21080181 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Loss Non-small cell lung cancer dChip 21829676 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Loss Phyllodes tumor CGH 17334353 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 48900000 Loss Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 CPB2,CPB2-AS1,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00563,LRCH1,MED4,MED4-AS1,NUDT15,RB1,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46200000 52200000 Deletion Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 ARL11,CAB39L,CDADC1,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SPERT,SPRYD7,ST13P4,SUCLA2,TRIM13,WDFY2,ZC3H13 chr13 46200000 52200000 Deletion Liposarcoma FISH, CGH 21253554 ARL11,CAB39L,CDADC1,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SPERT,SPRYD7,ST13P4,SUCLA2,TRIM13,WDFY2,ZC3H13 chr13 46200000 52200000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 ARL11,CAB39L,CDADC1,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SPERT,SPRYD7,ST13P4,SUCLA2,TRIM13,WDFY2,ZC3H13 chr13 46200000 72100000 Loss Glioblastoma multiforme aCGH 21080181 ALG11,ARL11,ATP7B,ATXN8OS,CAB39L,CCDC70,CDADC1,CKAP2,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KLHL1,KPNA3,LCP1,LECT1,LINC00282,LINC00348,LINC00441,LINC00462,LINC00550,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SPERT,SPRYD7,ST13P4,SUCLA2,SUGT1,TDRD3,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2,ZC3H13 chr13 46200000 86500000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ALG11,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC70,CDADC1,CKAP2,CLN5,COMMD6,CPB2,CPB2-AS1,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,EDNRB,ESD,FAM124A,FBXL3,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,IRG1,ITM2B,KCNRG,KCTD12,KIAA0226L,KLF12,KLF5,KLHL1,KPNA3,LCP1,LECT1,LINC00282,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00381,LINC00439,LINC00441,LINC00446,LINC00462,LINC00550,LINC00558,LINC00563,LMO7,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR3665,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERPINE3,SETDB2,SIAH3,SLAIN1,SLITRK1,SLITRK6,SPERT,SPRY2,SPRYD7,ST13P4,SUCLA2,SUGT1,TBC1D4,TDRD3,THSD1,TPTE2P3,TRIM13,UCHL3,UTP14C,VPS36,WDFY2,ZC3H13 chr13 46209526 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-925K arrays 21546498 ARL11,CAB39L,CDADC1,CPB2,CPB2-AS1,CYSLTR2,EBPL,ESD,FNDC3A,HTR2A,ITM2B,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SIAH3,SPERT,SUCLA2,ZC3H13 chr13 46240774 46354052 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SPERT chr13 46243391 46269368 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr13 46243393 46269368 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 46243393 46269368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 46243393 46269368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 46243393 46269368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 46268064 46268214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 46268066 46268293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 46274592 46307559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPERT chr13 46276445 46288692 Deletion Prostate cancer aCGH 22341455 SPERT chr13 46297419 46331041 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 3463001 3469000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEGF6 chr13 46305513 46368995 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SIAH3 chr13 46305514 46368176 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SIAH3 chr13 46305514 46368176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIAH3 chr13 46305514 46368176 Gain and loss Pancreatic cancer SNP array 17952125 SIAH3 chr13 46305514 46368176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIAH3 chr13 46309662 47326516 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPB2,CPB2-AS1,KIAA0226L,LCP1,LINC00563,LRCH1,SIAH3,ZC3H13 chr13 46354404 46425845 Deletion Prostate cancer aCGH 22341455 SIAH3 chr13 46362859 48209064 Deletion Cancer Affymetrix 250K Sty array 20164920 CPB2,CPB2-AS1,ESD,HTR2A,KIAA0226L,LCP1,LINC00563,LRCH1,SIAH3,ZC3H13 chr13 46371221 47295638 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CPB2,CPB2-AS1,KIAA0226L,LCP1,LINC00563,LRCH1,SIAH3,ZC3H13 chr13 46386000 47510000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 CPB2,CPB2-AS1,ESD,HTR2A,KIAA0226L,LCP1,LINC00563,LRCH1,SIAH3,ZC3H13 chr13 46386690 47967723 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 CPB2,CPB2-AS1,ESD,HTR2A,KIAA0226L,LCP1,LINC00563,LRCH1,SIAH3,ZC3H13 chr13 46386690 48065782 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 CPB2,CPB2-AS1,ESD,HTR2A,KIAA0226L,LCP1,LINC00563,LRCH1,SIAH3,ZC3H13 chr13 46386690 49406099 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 CPB2,CPB2-AS1,CYSLTR2,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,NUDT15,RB1,RCBTB2,SIAH3,SUCLA2,ZC3H13 chr13 46386690 57242066 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SIAH3,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2,ZC3H13 chr13 46392749 46392849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIAH3 chr13 46415878 46416026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SIAH3 chr13 46429276 46429372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 46429276 46429372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 46429374 46429438 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 46429374 46429438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 46449033 46449133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 46536313 46626893 Deletion Prostate cancer aCGH 22341455 ZC3H13 chr13 46565893 46565993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H13 chr13 46576937 47228532 LOH Normal High-resolution SNP genotyping 21211785 CPB2,CPB2-AS1,KIAA0226L,LCP1,LINC00563,LRCH1,ZC3H13 chr13 46576937 47235752 LOH Normal High-resolution SNP genotyping 21211785 CPB2,CPB2-AS1,KIAA0226L,LCP1,LINC00563,LRCH1,ZC3H13 chr13 46576937 47266972 LOH Normal High-resolution SNP genotyping 21211785 CPB2,CPB2-AS1,KIAA0226L,LCP1,LINC00563,LRCH1,ZC3H13 chr13 46582324 58796974 Copy number Lung cancer paired-end sequencing 18438408 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CPB2,CPB2-AS1,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2,ZC3H13 chr13 46587478 46587791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZC3H13 chr13 46616936 46617009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H13 chr13 46618634 46618784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H13 chr13 46619416 47326516 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPB2,CPB2-AS1,KIAA0226L,LCP1,LINC00563,LRCH1,ZC3H13 chr13 46622088 46622188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H13 chr13 46627321 46679210 Deletion Prostate cancer aCGH 22341455 CPB2,CPB2-AS1 chr13 46643294 46658919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPB2,CPB2-AS1 chr13 46647760 46647916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPB2,CPB2-AS1 chr13 46660529 49406099 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 CPB2,CPB2-AS1,CYSLTR2,ESD,HTR2A,ITM2B,KIAA0226L,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,NUDT15,RB1,RCBTB2,SUCLA2 chr13 46675888 46854024 Amplification or deletion Cancer Array CGH 17440070 CPB2,LCP1 chr13 46677042 46677100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPB2 chr13 46683472 47293581 LOH Normal High-resolution SNP genotyping 21211785 KIAA0226L,LCP1,LINC00563,LRCH1 chr13 46685344 59620200 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-865K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 46700057 46756458 Deletion Prostate cancer aCGH 22341455 LCP1 chr1 3467119 3467214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF6 chr13 46736755 52079499 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-835K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KIAA0226L,KPNA3,LCP1,LINC00441,LINC00462,LINC00563,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr1 34675162 34687710 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf94 chr13 46763476 46790684 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 34677589 34677684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf94 chr13 46779218 46779437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 46786082 46841110 Deletion Prostate cancer aCGH 22341455 NOT_FOUND chr13 46858083 46858183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 46877468 46877896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 3469001 3472000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEGF6 chr13 46916135 46961634 Deletion Prostate cancer aCGH 22341455 KIAA0226L chr13 46931077 46931370 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0226L chr13 46931077 46931370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0226L chr13 46931079 46931370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0226L chr13 46970883 46971205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 47025750 52621899 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-948K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KPNA3,LINC00282,LINC00441,LINC00462,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13,UTP14C,WDFY2 chr13 47048000 47569000 Gain Autism Array CGH 18522746 ESD,HTR2A,LRCH1 chr13 47055434 55522487 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-892K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47066000 56666000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47095276 47095326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47101946 47128850 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LRCH1 chr13 47103196 47103291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47117281 47475186 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ESD,HTR2A,LRCH1 chr13 47127295 47327175 Deletion Prostate cancer aCGH 22341455 LRCH1 chr13 47134683 47396135 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ESD,LRCH1 chr13 47171346 60112584 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47193170 52286292 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-979K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HTR2A,INTS6,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13,WDFY2 chr13 47199424 48281605 LOH Normal High-resolution SNP genotyping 21211785 ESD,HTR2A,LRCH1 chr1 3472001 3481000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEGF6,MIR551A chr13 47220058 60644649 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-879K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DIAPH3,DIAPH3-AS1,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47235596 47236742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRCH1 chr13 47235863 47236632 Gain and loss Pancreatic cancer SNP array 17952125 LRCH1 chr13 47238804 47239221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRCH1 chr13 47271820 51583247 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-805K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FNDC3A,GUCY1B2,HTR2A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47298401 47299401 Gain Chronic lymphocytic leukemia References 21215367 LRCH1 chr13 47300000 50900000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,ESD,FNDC3A,HTR2A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47300000 55300000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,ESD,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,LRCH1,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47312488 47374942 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ESD,LRCH1 chr13 47317927 47318082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRCH1 chr13 47323460 50039169 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-995K arrays 21546498 CAB39L,CDADC1,CYSLTR2,ESD,FNDC3A,HTR2A,ITM2B,LINC00441,LINC00462,LPAR6,LRCH1,MED4,MED4-AS1,MLNR,NUDT15,RB1,RCBTB2,SETDB2,SUCLA2 chr13 47323460 50630259 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-859K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,ESD,FNDC3A,HTR2A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,LRCH1,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2,TRIM13 chr1 34732472 35563864 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf212,DLGAP3,GJA4,GJB3,GJB4,GJB5,LOC653160,ZMYM1,ZMYM6,ZMYM6NB chr13 47345390 47371366 Deletion Prostate cancer aCGH 22341455 ESD chr13 47354027 47354127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESD chr13 47407512 47471168 Deletion Prostate cancer aCGH 22341455 HTR2A chr13 47414758 50392988 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,HTR2A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SUCLA2 chr13 47414792 47473463 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HTR2A chr13 47414792 47473463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HTR2A chr13 47414792 47473463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR2A chr13 47414793 47473463 Gain and loss Pancreatic cancer SNP array 17952125 HTR2A chr13 47416125 50630259 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1014K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,HTR2A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2,TRIM13 chr13 47423213 47423313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HTR2A chr13 47431857 50824411 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-839K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,HTR2A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47431857 73633003 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-978K arrays 21546498 ALG11,ARL11,ATP7B,ATXN8OS,BORA,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,HTR2A,INTS6,ITM2B,KCNRG,KLHL1,KPNA3,LECT1,LINC00282,LINC00348,LINC00441,LINC00462,LINC00550,LINC00558,LPAR6,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,MZT1,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,TDRD3,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47437966 47443742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HTR2A chr13 47446797 50729001 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-848K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,HTR2A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2,TRIM13 chr13 47465962 47796538 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-944K arrays 21546498 HTR2A chr13 47465962 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-838K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,HTR2A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SUCLA2 chr13 47465962 50575037 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-938K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,HTR2A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2,TRIM13 chr13 47471310 47471410 Deletion Obsessive-compulsive disorder statistical computing software R 21874579 NOT_FOUND chr13 47509704 47519283 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 47509704 47519283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47509704 47519283 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47509704 47519283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47510025 48053758 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-954K arrays 21546498 NOT_FOUND chr1 34751942 34752042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47536858 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-862K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SUCLA2 chr13 47536858 50600642 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-895K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2,TRIM13 chr13 47548093 47567241 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47548093 47567268 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 47548093 47567268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47548093 47567268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47553393 86223773 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ALG11,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC70,CDADC1,CKAP2,CLN5,COMMD6,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,EDNRB,FAM124A,FBXL3,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,IRG1,ITM2B,KCNRG,KCTD12,KLF12,KLF5,KLHL1,KPNA3,LECT1,LINC00282,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00381,LINC00439,LINC00441,LINC00446,LINC00462,LINC00550,LINC00558,LMO7,LPAR6,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR3665,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERPINE3,SETDB2,SLAIN1,SLITRK1,SPRY2,SPRYD7,ST13P4,SUCLA2,SUGT1,TBC1D4,TDRD3,THSD1,TPTE2P3,TRIM13,UCHL3,UTP14C,VPS36,WDFY2 chr13 47568830 47581048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 34758633 34783684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 47589790 47589890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47594270 50887132 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-897K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47595297 47618394 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 47606418 47606692 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 47606495 47606671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47606495 47606671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 34760944 34782269 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 47611685 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-796K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SUCLA2 chr13 47613722 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-778K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2 chr13 47624176 49406099 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 CYSLTR2,ITM2B,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,NUDT15,RB1,RCBTB2,SUCLA2 chr1 34764080 34779910 Gain Normal 244K array 17666407 NOT_FOUND chr13 47664511 47688173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 34767781 34790253 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 47691776 47691864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47697891 50725402 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-830K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2,TRIM13 chr13 47705307 47734226 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 47705309 47734226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47705309 47734226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47705327 47734233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47729089 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-817K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SUCLA2 chr13 47729089 50575037 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-883K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2,TRIM13 chr13 47729089 51314741 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-831K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47729089 51612479 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-843K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FNDC3A,GUCY1B2,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47730000 47839000 Homozygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 NOT_FOUND chr13 47730000 47839000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 NOT_FOUND chr13 47731768 59138002 Deletion Normal Arbitrated Peel-off 21527027 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47731768 59138002 Deletion Normal GeneGISTIC 21527027 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47731768 59138002 Deletion Normal Standard peel-off 21527027 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47740750 49554583 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CYSLTR2,FNDC3A,ITM2B,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,NUDT15,RB1,RCBTB2,SUCLA2 chr13 47745347 49039355 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-960K arrays 21546498 ITM2B,LINC00441,LPAR6,MED4,MED4-AS1,NUDT15,RB1,SUCLA2 chr13 47751880 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-841K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2 chr13 47751880 53343662 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-893K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47753403 47753503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47759152 47950933 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 NOT_FOUND chr13 47759453 49406099 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 CYSLTR2,ITM2B,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,NUDT15,RB1,RCBTB2,SUCLA2 chr13 47760651 47761651 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr13 47765821 47766821 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr13 47775883 47954027 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 NOT_FOUND chr13 47775883 47954027 Copy number Lung cancer - 20668451 NOT_FOUND chr13 47775883 47954027 Deletion Acute lymphoblastic leukemia 250k Sty and Nsp SNP arrays 19129520 NOT_FOUND chr13 47775883 47954027 Deletion Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr13 47775883 47954027 Deletioneted Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 NOT_FOUND chr13 47775883 47954027 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr13 47775883 47954027 Deletion Glioblastoma multiforme Illumina SNP arrays 22286061 NOT_FOUND chr13 47775883 47954027 Deletion infertile Y Chromosome Deletion Detection System, version 1.1 18676362 NOT_FOUND chr13 47775883 47954027 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 47775883 47954027 Gain or loss Cancer - 20668451 NOT_FOUND chr13 47775883 47954027 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 47775883 47954027 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 47775883 47954027 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 47775883 47954027 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 47775883 47954027 Neutral Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 NOT_FOUND chr13 47775884 47954027 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 47775884 47954027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47775884 47954027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47775912 47954023 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 47775912 47954123 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47789000 47792612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47800216 47800637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47800216 47800688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47806677 47809375 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 NOT_FOUND chr13 47809265 51499724 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47809662 47809756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47817000 47958000 Homozygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 NOT_FOUND chr13 47817000 47958000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 NOT_FOUND chr13 47854000 48070000 Homozygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 NOT_FOUND chr13 47854000 48070000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 NOT_FOUND chr13 47861707 47916841 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 47861707 47916841 Gain or loss Cancer - 20668451 NOT_FOUND chr13 47861707 47916841 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 47861707 47916841 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 47861707 47916841 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 47861707 47916841 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 47864080 47881681 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr13 47869988 51748159 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-774K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FNDC3A,GUCY1B2,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47869988 52079499 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-914K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,INTS6,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR5693,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 47882721 48072471 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr13 47883276 47887947 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 47883276 47887947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47883276 47916841 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 47883276 47916841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47883276 47916841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47885000 47968000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr13 47885033 48052038 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr13 47887859 47909134 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr13 47895694 48063054 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr13 47895694 48072129 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr13 47901406 47901611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47901406 47901611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47904879 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-902K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SUCLA2 chr13 47904879 65420773 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-860K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,TDRD3,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 47908486 48518227 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SUCLA2 chr13 47909687 47962966 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr13 47917390 48154504 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 NOT_FOUND chr13 47933237 47933337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47958734 47958834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 47961102 48005317 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 47961104 48005317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 47961104 48005317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47961104 48005317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 47961107 48005317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 47966014 47967014 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 47996091 47996187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48011276 54590729 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.13 20877625 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48011276 54590729 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.14 20877625 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48036705 61244235 Deletion Acute myeloid leukemia - 21251322 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MED4,MED4-AS1,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,NUDT15,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUCLA2,SUGT1,TDRD3,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48039941 48040175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 48072900 48073900 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 48073019 48518227 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SUCLA2 chr13 48079850 48120116 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 48086547 48087547 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 48089482 48090482 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 48093779 48094779 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 3481001 3519500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEGF6 chr13 48102091 48102181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48137000 48429000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 NOT_FOUND chr13 48139447 48148565 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 34814279 34814379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48171176 48171276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48178692 48181499 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48178951 48181499 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 48178952 48181499 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 48178952 48181499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48178952 48181499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48181984 48370518 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 48205283 48206283 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 48207953 48208061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 48215607 48215682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48223374 48223474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48224226 48224293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48237029 48237117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48237029 48237137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48237029 48237137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48239865 48241979 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr13 48241779 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-945K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2 chr13 48241779 50600642 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-911K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2,TRIM13 chr13 48243265 48243964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48243772 48243966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48271219 48271550 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 48363078 48363155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48401564 49026486 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-940K arrays 21546498 ITM2B,LINC00441,LPAR6,MED4,MED4-AS1,NUDT15,RB1,SUCLA2 chr13 48412340 50887132 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-976K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 48424762 48437669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 48425665 48470728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 48431530 48434856 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 48437277 51314741 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-871K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 48448049 48681915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MED4,MED4-AS1,NUDT15,SUCLA2 chr13 48448049 48681915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED4,MED4-AS1,NUDT15,SUCLA2 chr13 48448049 48681915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED4,MED4-AS1,NUDT15,SUCLA2 chr13 48448060 48681917 Gain and loss Pancreatic cancer SNP array 17952125 MED4,MED4-AS1,NUDT15,SUCLA2 chr13 48450631 50824411 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-785K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 48460048 48460154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48460052 48460154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48460052 48460154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48470905 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1010K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SUCLA2 chr13 48470905 50824411 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-823K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 48470905 51341901 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-970K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 48475861 48475961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48501988 50824411 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-782K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,SUCLA2,TRIM13 chr13 48516216 48518931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUCLA2 chr13 48516790 48575461 Deletion Prostate cancer aCGH 22341455 SUCLA2 chr13 48544587 50539980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-977K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,SUCLA2 chr13 48554226 48598372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUCLA2 chr13 48567528 48567627 Gain and loss Pancreatic cancer SNP array 17952125 SUCLA2 chr13 48567528 48567629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUCLA2 chr13 48567529 48567626 Gain and loss Pancreatic cancer SNP array 17952125 SUCLA2 chr13 48589565 50505323 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-851K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7 chr13 48589565 50630259 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-896K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MIR15A,MIR16-1,MIR3613,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,TRIM13 chr13 48609943 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1003K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MED4,MED4-AS1,MLNR,NUDT15,PHF11,RB1,RCBTB1,RCBTB2,SETDB2 chr13 48611702 48621281 Deletion Prostate cancer aCGH 22341455 NUDT15 chr13 48636706 48671760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MED4,MED4-AS1 chr1 34864045 34877078 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 48650091 48669239 Deletion Prostate cancer aCGH 22341455 MED4,MED4-AS1 chr13 48659616 48659807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED4 chr13 48682559 48684431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48692475 48694514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 48692475 48694514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48692475 48694514 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48692475 48694514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 34870267 34870361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48720099 48765619 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 48720099 48765619 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 48720099 48765619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48720099 48765619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 48720099 48765621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 34874009 34884563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 34874047 34884752 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 34874047 34884752 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 34874894 34884557 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 48751166 50688883 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-789K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,TRIM13 chr1 34875241 34877078 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 34875241 34877078 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 48759700 50649948 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-847K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,TRIM13 chr13 48759700 50688883 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-887K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,TRIM13 chr13 48759700 50898885 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-806K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,ITM2B,KCNRG,KPNA3,LINC00441,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,TRIM13 chr1 34876402 34889136 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 48780136 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-864K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2 chr13 48780136 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-884K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2 chr13 48780790 48916200 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITM2B,LINC00441,RB1 chr13 48780790 48916263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITM2B,LINC00441,RB1 chr13 48780790 48916263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITM2B,LINC00441,RB1 chr13 48780835 48781135 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 48780919 48781919 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 48781945 48873500 Gain and loss Pancreatic cancer SNP array 17952125 ITM2B,LINC00441 chr13 48800000 56700000 Gain Acute myeloid leukemia BAC Array CGH 17237825 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,ITM2B,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48803460 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-975K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,ITM2B,KPNA3,LINC00441,LINC00462,LPAR6,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7 chr13 48812394 77930219 Loss Developmental delay affymetrix genechip 500K/SNP 6.56 array 21147756 ALG11,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC70,CDADC1,CKAP2,CLN5,COMMD6,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FBXL3,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,IRG1,ITM2B,KCNRG,KCTD12,KLF12,KLF5,KLHL1,KPNA3,LECT1,LINC00282,LINC00347,LINC00348,LINC00381,LINC00441,LINC00462,LINC00550,LINC00558,LMO7,LPAR6,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,TBC1D4,TDRD3,THSD1,TPTE2P3,TRIM13,UCHL3,UTP14C,VPS36,WDFY2 chr13 48817579 48824726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITM2B chr13 48847801 48853400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 48849403 48851863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 48856543 48856765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 48863579 54941189 Loss Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48868000 58468000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,KPNA3,LECT1,LINC00282,LINC00441,LINC00462,LINC00558,LPAR6,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48877883 49056024 Loss Lung adenocarcinoma 244K Whole Human Genome microarrays 21151896 LPAR6,RB1 chr13 48879065 114092980 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A2LD1,ABCC4,ABHD13,ADPRHL1,ALG11,ANKRD10,ARGLU1,ARHGEF7,ARL11,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CAB39L,CARKD,CARS2,CCDC168,CCDC70,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE10P,CTAGE11P,CUL4A,CYSLTR2,DACH1,DAOA,DAOA-AS1,DCT,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC3,DOCK9,DZIP1,EBPL,EDNRB,EFNB2,ERCC5,F10,F7,FAM124A,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,FNDC3A,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,GUCY1B2,HNRNPA1L2,HS6ST3,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,KCNRG,KCTD12,KDELC1,KLF12,KLF5,KLHL1,KPNA3,LAMP1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00462,LINC00550,LINC00551,LINC00558,LINC00559,LMO7,LPAR6,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3613,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR5693,MIR622,MIR623,MIR759,MIR92A1,MLNR,MRPS31P3,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PHF11,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERPINE3,SETDB2,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,SPRYD7,ST13P4,STK24,SUGT1,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,TRIM13,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr1 3488927 3610040 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MEGF6,TP73,TPRG1L,WRAP73 chr1 34889741 34893206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48900000 52200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,INTS6,KCNRG,KPNA3,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,TRIM13,WDFY2 chr13 48900000 52200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,INTS6,KCNRG,KPNA3,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,TRIM13,WDFY2 chr13 48900000 52200000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,INTS6,KCNRG,KPNA3,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,TRIM13,WDFY2 chr13 48900000 52200000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,INTS6,KCNRG,KPNA3,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,TRIM13,WDFY2 chr13 48900000 52200000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,INTS6,KCNRG,KPNA3,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,TRIM13,WDFY2 chr13 48900000 52200000 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,INTS6,KCNRG,KPNA3,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,TRIM13,WDFY2 chr13 48900000 52200000 Loss Prostate cancer Human version 2.0 BAC arrays 17217626 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,INTS6,KCNRG,KPNA3,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MLNR,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,TRIM13,WDFY2 chr13 48900000 57600000 Loss Malignant fibrous histiocytomas aCGH 21085701 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,KPNA3,LECT1,LINC00282,LINC00462,LINC00558,LPAR6,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48900000 60500000 Copy number Breast cancer BAC array 16272173 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DIAPH3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,KPNA3,LECT1,LINC00282,LINC00462,LINC00558,LPAR6,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48900000 72100000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 ALG11,ARL11,ATP7B,ATXN8OS,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,KLHL1,KPNA3,LECT1,LINC00282,LINC00348,LINC00462,LINC00550,LINC00558,LPAR6,MIR1297,MIR15A,MIR16-1,MIR3169,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,TDRD3,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 48900000 97000000 Loss Metanephric adenoma Oligo aCGH 20802469 ABCC4,ALG11,ARL11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CAB39L,CCDC70,CDADC1,CKAP2,CLDN10,CLDN10-AS1,CLN5,COMMD6,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCT,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC3,DZIP1,EBPL,EDNRB,FAM124A,FBXL3,FNDC3A,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR180,GUCY1B2,HNRNPA1L2,HS6ST3,INTS6,IRG1,KCNRG,KCTD12,KLF12,KLF5,KLHL1,KPNA3,LECT1,LINC00282,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00462,LINC00550,LINC00558,LINC00559,LMO7,LPAR6,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3613,MIR3665,MIR4500,MIR4500HG,MIR4703,MIR5007,MIR5693,MIR622,MIR759,MIR92A1,MLNR,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PHF11,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERPINE3,SETDB2,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,SPRYD7,ST13P4,SUGT1,TBC1D4,TDRD3,TGDS,THSD1,TPTE2P3,TRIM13,UCHL3,UGGT2,UTP14C,VPS36,WDFY2 chr13 48900350 48901350 Gain Osteosarcoma References 21215367 RB1 chr13 48900633 48901633 Gain Osteosarcoma References 21215367 RB1 chr13 48903445 48961512 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 RB1 chr13 48903923 49406099 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 CYSLTR2,LINC00462,LPAR6,RB1,RCBTB2 chr13 48905496 48918555 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RB1 chr13 48905496 48918555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RB1 chr13 48911492 50087172 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CAB39L,CDADC1,CYSLTR2,FNDC3A,LINC00462,LPAR6,MLNR,PHF11,RB1,RCBTB2,SETDB2 chr13 48916511 48964298 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RB1 chr13 48916511 48964298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RB1 chr13 48916511 48964298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RB1 chr13 48916511 48964299 Amplification T-cell lymphomas Array-CGH 22341440 RB1 chr13 48916896 48964305 Gain and loss Pancreatic cancer SNP array 17952125 RB1 chr13 48921870 48922870 Loss Osteosarcoma References 21215367 RB1 chr13 48923674 48923674 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 RB1 chr1 34894435 34898418 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 48954359 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-898K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,KPNA3,LINC00462,LPAR6,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2 chr13 48954359 51314741 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-876K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,LPAR6,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 48961107 48961501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RB1 chr13 48967801 49001118 Duplication or deletion Attention deficit hyperactivity disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LPAR6,RB1 chr13 48967801 49001118 Duplication or deletion Chronic motor tic disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LPAR6,RB1 chr13 48967801 49001118 Duplication or deletion Schizophrenia FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LPAR6,RB1 chr13 48967817 49001118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LPAR6,RB1 chr13 48967817 49001118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPAR6,RB1 chr13 48967817 49001118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPAR6,RB1 chr13 48968098 49001112 Gain and loss Pancreatic cancer SNP array 17952125 LPAR6,RB1 chr13 48969250 49001113 Amplification T-cell lymphomas Array-CGH 22341440 LPAR6,RB1 chr13 48982947 48983947 Loss Osteosarcoma References 21215367 RB1 chr13 48986307 49726785 LOH Normal High-resolution SNP genotyping 21211785 CYSLTR2,FNDC3A,LINC00462,LPAR6,RB1,RCBTB2 chr13 49000163 49001163 Gain Osteosarcoma References 21215367 LPAR6,RB1 chr13 49004082 49057720 Duplication or deletion Attention deficit hyperactivity disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LPAR6,RB1 chr13 49004082 49057720 Duplication or deletion Chronic motor tic disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LPAR6,RB1 chr13 49004082 49057720 Duplication or deletion Schizophrenia FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LPAR6,RB1 chr13 49004083 49057720 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LPAR6,RB1 chr13 49004083 49057720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPAR6,RB1 chr13 49004083 49057720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPAR6,RB1 chr13 49004085 49039460 Gain and loss Pancreatic cancer SNP array 17952125 LPAR6,RB1 chr13 49004087 49057694 Amplification T-cell lymphomas Array-CGH 22341440 LPAR6,RB1 chr13 49015358 49610331 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-888K arrays 21546498 CYSLTR2,FNDC3A,LINC00462,LPAR6,RB1,RCBTB2 chr13 49019099 50661553 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1005K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2,SPRYD7,TRIM13 chr13 49020561 49020861 Gain Osteosarcoma References 21215367 RB1 chr13 49022622 49083205 Gain Autism Exome sequencing and CGH 22495309 RB1,RCBTB2 chr13 49029900 56820600 Loss Prostate cancer Array CGH 18632612 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,KPNA3,LECT1,LINC00282,LINC00462,LINC00558,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 49030144 49040464 Gain Normal Birdsuite, version 1.5.2 22087296 RB1 chr13 49032028 49032111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RB1 chr13 49036405 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-899K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,KPNA3,LINC00462,MLNR,PHF11,RB1,RCBTB1,RCBTB2,SETDB2 chr13 49038306 49038606 Gain Osteosarcoma References 21215367 RB1 chr13 49039346 51891413 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,KCNRG,KPNA3,LINC00462,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RB1,RCBTB1,RCBTB2,RNASEH2B,RNASEH2B-AS1,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 49056682 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-842K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,KPNA3,LINC00462,MLNR,PHF11,RCBTB1,RCBTB2,SETDB2 chr13 49067280 49068280 Gain Osteosarcoma References 21215367 RCBTB2 chr13 49070000 51240000 Deletion Sezary syndrome Array-based CGH 18413736 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,TRIM13 chr1 34907787 34907882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49080891 49635447 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-794K arrays 21546498 CYSLTR2,FNDC3A,LINC00462,RCBTB2 chr13 49080891 50575037 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-792K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,KPNA3,LINC00462,MIR3613,MLNR,PHF11,RCBTB1,RCBTB2,SETDB2,SPRYD7,TRIM13 chr13 49083812 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-923K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,KPNA3,LINC00462,MLNR,PHF11,RCBTB1,RCBTB2,SETDB2 chr13 49083812 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-964K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,KPNA3,LINC00462,MLNR,PHF11,RCBTB1,RCBTB2,SETDB2,SPRYD7 chr13 49083812 50600642 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-850K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR3613,MLNR,PHF11,RCBTB1,RCBTB2,SETDB2,SPRYD7,TRIM13 chr13 49083812 50887132 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-937K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,RCBTB2,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 49088897 50539980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-920K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,EBPL,FNDC3A,KPNA3,LINC00462,MLNR,PHF11,RCBTB1,RCBTB2,SETDB2,SPRYD7 chr13 49092449 49092785 Gain and loss Pancreatic cancer SNP array 17952125 RCBTB2 chr13 49092451 49092785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCBTB2 chr13 49092451 49092785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCBTB2 chr13 49093307 49095370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RCBTB2 chr13 49100436 49106009 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RCBTB2 chr13 49100436 49106009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCBTB2 chr13 49100436 49106009 Gain and loss Pancreatic cancer SNP array 17952125 RCBTB2 chr13 49100436 49106009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCBTB2 chr13 49109337 49110337 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 49118017 50636681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-999K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49118017 50824411 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-840K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 49118017 51052777 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-784K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 49121691 49122691 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 49121696 49122696 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 49129599 49130599 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 49129602 49130602 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 49132860 49163612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00462 chr13 49132860 49163612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00462 chr13 49132860 49163619 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00462 chr13 49132868 49163612 Gain and loss Pancreatic cancer SNP array 17952125 LINC00462 chr13 49135853 49136055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49141041 49141255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49142886 50600642 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-993K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49143848 50305483 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-828K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,KPNA3,LINC00462,MLNR,PHF11,RCBTB1,SETDB2 chr13 49143848 51052777 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-790K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU1,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,LINC00462,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 49152739 49152934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00462 chr1 34915883 34921057 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49160635 49160849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49161511 49161705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49166844 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-996K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49166844 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-941K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49166844 50575037 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1011K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,CYSLTR2,DLEU2,EBPL,FNDC3A,KPNA3,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49166844 54877389 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-854K arrays 21546498 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,CYSLTR2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,KPNA3,LECT1,LINC00282,LINC00558,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,PHF11,RCBTB1,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 49170100 49172554 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 49171461 49265058 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr13 49171463 49265058 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 49171463 49265058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49171463 49265058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49171463 49265058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49222774 49257991 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 49225599 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-942K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49261305 49279103 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 49263427 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-791K arrays 21546498 ARL11,CAB39L,CDADC1,CYSLTR2,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr1 34927705 34930439 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49283767 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-924K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49283767 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1004K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49283767 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-958K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49283767 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-797K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49283767 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-867K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49283767 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-959K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49283767 50505323 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-908K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49283767 50539980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-974K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49312362 49313362 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 49317312 50267652 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-901K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,MLNR,PHF11,RCBTB1,SETDB2 chr13 49317312 50471882 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-800K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49317312 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-832K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49317312 50539980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-804K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49317312 50630259 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-811K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49361771 49361865 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49361771 49361865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49361772 49361862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49362653 49365296 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49362728 49364540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49376888 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1000K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49376888 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-918K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49376888 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-926K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49376888 50505323 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-827K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49380771 49380867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49380773 49380867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49380774 49380867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49384842 49408626 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr13 49384843 49408477 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 49384843 49408477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49384843 49408477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49384843 49408477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49404151 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-829K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49404151 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-845K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49404151 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-844K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49404151 50600642 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-973K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49404151 50649948 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-807K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49407885 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-808K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49407885 50471882 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-880K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49408001 49409500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 49411077 49413390 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 49415266 49416266 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 49420650 49421650 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 49420652 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-775K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49420652 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-819K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49420652 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-907K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49420652 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-961K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49420652 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-809K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49420652 50539980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1007K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49420652 50644492 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-866K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49427688 49452975 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 49436563 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-910K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49436563 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-943K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49436563 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-799K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49436563 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-822K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49436563 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-927K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49436563 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-955K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49436563 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-969K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49436563 50600642 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-998K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49436563 50824411 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-786K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU1,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 49438860 49453027 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 49443381 50275909 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-783K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49443381 50275909 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-917K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49443381 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-856K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49443381 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-921K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49443381 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-781K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49443381 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-900K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49443381 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-787K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49443381 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-997K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49443381 50600642 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-922K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49469144 49490604 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 49469144 49490604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49469144 49490604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49469144 49493059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49471000 50360000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49474759 49475759 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr13 49475231 50073726 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-780K arrays 21546498 CAB39L,CDADC1,FNDC3A,MLNR,PHF11,SETDB2 chr13 49475231 50264011 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-824K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50264011 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-825K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50267652 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-815K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1009K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-810K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50287643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-951K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50305483 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-777K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50305483 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-826K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-818K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-929K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-963K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-852K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-957K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-965K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-798K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-801K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-853K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-919K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-881K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49475231 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-891K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49475231 50505323 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-967K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49475231 50575037 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-882K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU2,EBPL,FNDC3A,KPNA3,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49475231 50575037 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-968K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU2,EBPL,FNDC3A,KPNA3,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49487391 49493059 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 49487391 49493059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49487391 49493059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49494831 49494966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 49499383 49597857 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3A chr13 49507665 50426681 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-846K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49521110 49521198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49521110 49521198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49521256 49521338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49521256 49521338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49529202 49540187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 49536622 49536810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 49542000 59142000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ALG11,ARL11,ATP7B,CAB39L,CCDC70,CDADC1,CKAP2,CTAGE10P,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FAM124A,FNDC3A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,KPNA3,LECT1,LINC00282,LINC00558,MIR1297,MIR15A,MIR16-1,MIR3613,MIR4703,MIR5007,MIR5693,MIR759,MLNR,MRPS31P3,NEK3,NEK5,OLFM4,PCDH17,PCDH8,PHF11,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RCBTB1,RNASEH2B,RNASEH2B-AS1,SERPINE3,SETDB2,SPRYD7,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 49542355 49842355 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 CDADC1,FNDC3A,MLNR chr13 49551756 49859831 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-939K arrays 21546498 CDADC1,FNDC3A,MLNR chr13 49551756 49995503 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-916K arrays 21546498 CAB39L,CDADC1,FNDC3A,MLNR chr13 49551756 50305483 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-776K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49551756 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-903K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49553001 49554500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FNDC3A chr13 49554308 49577432 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FNDC3A chr13 49554308 49577432 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3A chr13 49554378 49577432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNDC3A chr13 49554378 49577432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3A chr13 49559791 50791372 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU1,DLEU2,EBPL,FNDC3A,KCNRG,KPNA3,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 49571540 49571985 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3A chr13 49571540 49571985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3A chr13 49596001 49606000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FNDC3A chr13 49601888 50039169 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-872K arrays 21546498 CAB39L,CDADC1,FNDC3A,MLNR,SETDB2 chr13 49601888 50349625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-849K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49601888 50386543 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-874K arrays 21546498 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49601888 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-857K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49601888 50485539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-870K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2 chr13 49601888 50488060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-861K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49616260 49635447 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-251K arrays 21546498 FNDC3A chr13 49616260 51450721 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1006K arrays 21546498 ARL11,CAB39L,CDADC1,CTAGE10P,DLEU1,DLEU2,DLEU7,DLEU7-AS1,EBPL,FNDC3A,KCNRG,KPNA3,MIR15A,MIR16-1,MIR3613,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7,ST13P4,TRIM13 chr13 49630000 50510000 Loss Acute lymphoblastic leukemia - 21339820 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49630676 50272626 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ARL11,CAB39L,CDADC1,EBPL,FNDC3A,MLNR,PHF11,RCBTB1,SETDB2 chr13 49630676 50510777 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ARL11,CAB39L,CDADC1,CTAGE10P,EBPL,FNDC3A,KPNA3,MLNR,PHF11,RCBTB1,SETDB2,SPRYD7 chr13 49644155 49645753 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3A chr13 49644226 49645318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNDC3A chr13 49644226 49645318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3A chr13 49812882 49812938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 49816029 49816086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 49833547 49833900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDADC1 chr13 49835285 49835374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDADC1 chr1 34985544 34985643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 49867692 50272626 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL11,CAB39L,EBPL,PHF11,RCBTB1,SETDB2 chr13 49867692 50441141 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL11,CAB39L,EBPL,KPNA3,PHF11,RCBTB1,SETDB2 chr1 34988217 34994440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 34989046 169069041 Copy number Lung cancer paired-end sequencing 18438408 ABCA4,ABCD3,ACADM,ACOT11,ACP6,ACTG1P4,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADORA3,ADPRHL2,AGBL4,AGL,AHCYL1,AIM2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2P1,ALDH9A1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ARTN,ASB17,ASH1L,ASH1L-AS1,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP5F1,ATP6V0B,ATP8B2,ATPAF1,ATPAF1-AS1,ATXN7L2,B4GALT2,B4GALT3,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BEST4,BGLAP,BMP8A,BMP8B,BNIPL,BOLA1,BRDT,BSND,BTBD19,BTBD8,BTF3L4,C1orf109,C1orf110,C1orf111,C1orf122,C1orf123,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf189,C1orf192,C1orf194,C1orf204,C1orf210,C1orf212,C1orf216,C1orf226,C1orf228,C1orf43,C1orf50,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf87,C1orf88,C2CD4D,C8A,C8B,CA14,CACHD1,CADM3,CAP1,CAPZA1,CASQ1,CASQ2,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC19,CCDC23,CCDC24,CCDC30,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD53,CD58,CD5L,CD84,CDC14A,CDC20,CDC42SE1,CDC7,CDCA8,CDCP2,CDKN2C,CELF3,CELSR2,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CITED4,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLDN19,CLK2,CLSPN,CMPK1,CNN3,COL11A1,COL24A1,COL8A2,COL9A2,COPA,CPT2,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSF3R,CTBS,CTH,CTPS1,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DBT,DCAF6,DCAF8,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DEDD,DEM1,DENND2C,DENND2D,DENND4B,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,DUSP27,EBNA1BP2,ECHDC2,ECM1,EDN2,EFCAB7,EFNA1,EFNA3,EFNA4,EIF2B3,EIF2C1,EIF2C3,EIF2C4,ELAVL4,ELOVL1,ELTD1,EMBP1,ENSA,EPHA10,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ETV3,ETV3L,EVI5,EXTL2,F11R,F3,FAAH,FAF1,FAM102B,FAM151A,FAM159A,FAM176B,FAM183A,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM78B,FAM91A2,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FHL3,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ39739,FMO5,FMO9P,FNBP1L,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GABPB2,GADD45A,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA5,GJA8,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GNRHR2,GOLPH3L,GON4L,GPA33,GPATCH4,GPBP1L1,GPR161,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,HAO2,HAPLN2,HAX1,HCN3,HDGF,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HEYL,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIVEP3,HMGCS2,HOOK1,HORMAD1,HPCAL4,HPDL,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HYDIN2,HYI,IFI16,IFI44,IFI44L,IGSF3,IGSF8,IGSF9,IL12RB2,IL23R,IL6R,ILDR2,ILF2,INADL,INPP5B,INSL5,INSRR,INTS3,IPO13,IPP,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KCNQ4,KDM4A,KDM4A-AS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA0907,KIAA1107,KIAA1324,KIF2C,KIRREL,KLF17,KLHDC9,KNCN,KPRP,KRTCAP2,KTI12,L1TD1,LAMTOR2,LAMTOR5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LDLRAD1,LELP1,LENEP,LEPR,LEPRE1,LEPROT,LHX8,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMO4,LMX1A,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130000,LOC100130557,LOC100131060,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506343,LOC100507564,LOC100507634,LOC339442,LOC339524,LOC388692,LOC400752,LOC400794,LOC440600,LOC440700,LOC643355,LOC643441,LOC645166,LOC646268,LOC646626,LOC653160,LOC653513,LOC728431,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LY9,LYSMD1,MAB21L3,MACF1,MAEL,MAGI3,MAGOH,MAN1A2,MANEAL,MAP7D1,MAST2,MCL1,MCOLN2,MCOLN3,MEAF6,MED8,MEF2D,MEX3A,MFSD2A,MGC27382,MGST3,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR2682,MIR30C1,MIR30E,MIR3117,MIR320B1,MIR3658,MIR3659,MIR3671,MIR4255,MIR4256,MIR4257,MIR4258,MIR4422,MIR4423,MIR4654,MIR4711,MIR4781,MIR4794,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR5581,MIR5584,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MKNK1,MKNK1-AS1,MLLT11,MMACHC,MNDA,MOB3C,MOV10,MPC2,MPL,MPZ,MPZL1,MRPL24,MRPL37,MRPL9,MRPS15,MRPS21,MSH4,MSTO1,MSTO2P,MTF1,MTF2,MTMR11,MTX1,MUC1,MUTYH,MYBPHL,MYCBP,MYCL1,MYSM1,NASP,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCDN,NCSTN,NDUFS2,NDUFS5,NEGR1,NEGR1-IT1,NES,NEXN,NFIA,NFYC,NGF,NHLH1,NHLH2,NIT1,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR1I3,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OSCP1,OTUD7B,OVGP1,OXCT2,PABPC4,PALMD,PAQR6,PARS2,PBX1,PBXIP1,PCP4L1,PCSK9,PDE4B,PDE4DIP,PDIA3P,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHGDH,PHTF1,PI4KB,PIAS3,PIGK,PIGM,PIK3R3,PIN1P1,PIP5K1A,PKLR,PKN2,PLEKHO1,PLK3,PMF1,PMF1-BGLAP,PMVK,PODN,POGK,POGZ,POLR3C,POLR3GL,POMGNT1,POU2F1,POU3F1,POU5F1P4,PPAP2B,PPCS,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPIE,PPIEL,PPIH,PPM1J,PPOX,PPT1,PRCC,PRDX1,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38A,PRPF38B,PRR9,PRUNE,PSMA5,PSMB2,PSMB4,PSMD4,PSRC1,PTBP2,PTCH2,PTGER3,PTGFR,PTGFRN,PTPN22,PTPRF,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RAB3B,RABGGTB,RAD54L,RAP1A,RAVER2,RBM15,RBM8A,RBMXL1,RCSD1,REG4,RFX5,RGS4,RGS5,RHBDL2,RHBG,RHOC,RIIAD1,RIMKLA,RIMS3,RIT1,RLF,RNF11,RNF115,RNF220,RNPC3,RNU6-6,ROR1,RORC,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL31P11,RPL5,RPRD2,RPS15AP10,RPS27,RPS8,RPTN,RRAGC,RRNAD1,RSBN1,RSPO1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA4,SCMH1,SCNM1,SCP2,SDHC,SEC22B,SELENBP1,SELRC1,SEMA4A,SEMA6C,SEP15,SERBP1,SETDB1,SF3A3,SF3B4,SFPQ,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH3D21,SH3GLB1,SHC1,SHE,SIKE1,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC25A44,SLC27A3,SLC2A1,SLC2A1-AS1,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC5A9,SLC6A17,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SMCP,SMG5,SNAPIN,SNIP1,SNORA42,SNORA55,SNORA66,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNX27,SNX7,SORT1,SPAG17,SPATA6,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRSF11,SSBP3,SSR2,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STXBP3,SUMO1P3,SV2A,SYCP1,SYDE2,SYPL2,SYT11,SYT6,SZT2,TACSTD2,TADA1,TAF13,TAGLN2,TAL1,TARS2,TBX15,TBX19,TCEANC2,TCHH,TCHHL1,TCTEX1D1,TCTEX1D4,TDRD10,TDRKH,TEKT2,TESK2,TFAP2E,TGFBR3,THBS3,THEM4,THEM5,THRAP3,TIE1,TIPRL,TM2D1,TMCO1,TMCO2,TMED5,TMEM125,TMEM167B,TMEM48,TMEM53,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM69,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNNI3K,TOE1,TOMM40L,TPM3,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM46,TRIT1,TRMT13,TSACC,TSHB,TSPAN1,TSPAN2,TSTD1,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UCK2,UFC1,UHMK1,UOX,UQCRH,UROD,USF1,USP1,USP21,USP24,USP33,UTP11L,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WLS,WNT2B,XCL1,XCL2,YBX1,YIPF1,YRDC,YY1AP1,ZBTB7B,ZC3H12A,ZCCHC11,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF642,ZNF643,ZNF644,ZNF684,ZNF687,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr13 49904692 50656053 Deletion Normal GISTIC2.0 21527027 ARL11,CAB39L,CTAGE10P,DLEU2,EBPL,KCNRG,KPNA3,MIR15A,MIR16-1,MIR3613,PHF11,RCBTB1,SETDB2,SPRYD7,TRIM13 chr13 49908976 49909050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAB39L chr13 49918923 50092830 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CAB39L,PHF11,SETDB2 chr13 49920472 49920507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAB39L chr1 34993235 34996700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 34993235 34996700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 49939592 49987632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAB39L chr13 49942571 49986919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAB39L chr13 49956672 49974820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAB39L chr13 49958817 49964037 Gain Normal 244K array 17666407 CAB39L chr13 49961274 49985220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAB39L chr13 49964172 49982174 Copy number Alcoholism Illumina Human Hap663W-Quad BeadChip 21790672 CAB39L chr13 49964172 49982174 Copy number Normal - 21790672 CAB39L chr13 49965401 49975100 Deletion Glioma mate-paired sequence 20126413 CAB39L chr13 49966149 49988904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAB39L chr13 49966214 49985198 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAB39L chr13 49967001 49973000 Deletion Normal TaqMan assays 20972442 CAB39L chr13 49967347 49973084 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CAB39L chr13 49967348 49973079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAB39L chr13 49967473 49971761 Gain Normal 244K array 17666407 CAB39L chr13 49974248 49981901 Loss Normal 244K array 17666407 CAB39L chr1 34997929 35001912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 34997929 35001912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35000131 35019710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 35003662 35003762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 50063509 50064871 Loss Normal 244K array 17666407 SETDB2 chr13 50093916 50094016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHF11 chr13 50109227 50110227 Loss Osteosarcoma References 21215367 RCBTB1 chr13 50146435 50146735 Loss Osteosarcoma References 21215367 RCBTB1 chr13 50149573 50150573 Gain Osteosarcoma References 21215367 RCBTB1 chr13 50150066 50151066 Gain Osteosarcoma References 21215367 RCBTB1 chr1 35016749 35016832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50184759 50315886 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ARL11,EBPL,KPNA3 chr1 35019377 35024554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35019377 35024554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50214270 50214369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 50265541 50265624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EBPL chr13 50285124 50285243 Gain and loss Pancreatic cancer SNP array 17952125 KPNA3 chr13 50285125 50285243 Gain and loss Pancreatic cancer SNP array 17952125 KPNA3 chr13 50285125 50285243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KPNA3 chr13 50295451 50316076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KPNA3 chr13 50295451 50316076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KPNA3 chr1 35031186 35033931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35031186 35033931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50315316 50315783 Gain and loss Pancreatic cancer SNP array 17952125 KPNA3 chr13 50342704 50344320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KPNA3 chr13 50379291 50379362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 50381815 50428867 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 50381815 50428867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50381815 50428867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50381892 50442594 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 50381928 50428901 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 50401677 50401735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35040416 35040610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 50426343 50427343 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr13 50430220 50431220 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr13 50441141 114051465 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 A2LD1,ABCC4,ABHD13,ALG11,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CCDC70,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE10P,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM124A,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,GUCY1B2,HNRNPA1L2,HS6ST3,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,KCNRG,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00558,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR1297,MIR15A,MIR16-1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3613,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR5693,MIR622,MIR623,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RBM26,RBM26-AS1,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERPINE3,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,SPRYD7,ST13P4,STK24,SUGT1,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,TRIM13,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr13 50449936 50450264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 50466769 50538143 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTAGE10P,SPRYD7 chr13 50466770 50538143 Gain and loss Pancreatic cancer SNP array 17952125 CTAGE10P,SPRYD7 chr13 50466770 50538344 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CTAGE10P,SPRYD7 chr13 50466770 50538344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTAGE10P,SPRYD7 chr13 50466770 50538344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTAGE10P,SPRYD7 chr13 50488499 50489499 Gain Chronic lymphocytic leukemia References 21215367 SPRYD7 chr13 50499884 50499989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRYD7 chr13 50499902 50499989 Gain and loss Pancreatic cancer SNP array 17952125 SPRYD7 chr13 50499902 50499989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRYD7 chr13 50508851 50508951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPRYD7 chr13 50554976 50555976 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 50571000 56035000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,DLEU1,DLEU2,DLEU7,DLEU7-AS1,FAM124A,GUCY1B2,HNRNPA1L2,INTS6,KCNRG,LECT1,LINC00282,LINC00558,MIR1297,MIR15A,MIR16-1,MIR4703,MIR5007,MIR5693,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,RNASEH2B,RNASEH2B-AS1,SERPINE3,ST13P4,SUGT1,THSD1,TPTE2P3,TRIM13,UTP14C,VPS36,WDFY2 chr13 50612299 50617870 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 DLEU2 chr13 50623255 50623337 Copy number Ovarian cancer TaqMan miRNA Assay 18458333 DLEU2,MIR15A chr13 50633860 50634494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEU2 chr13 50658757 50658872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLEU1,DLEU2 chr13 50683560 50683660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLEU2 chr13 50694471 50755904 Gain and loss Pancreatic cancer SNP array 17952125 DLEU2,ST13P4 chr13 50694507 50753617 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DLEU2,ST13P4 chr13 50694556 50755904 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DLEU2,ST13P4 chr13 50694556 50755904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLEU2,ST13P4 chr13 50694556 50755904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEU2,ST13P4 chr13 50749909 50749994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 35077371 35086093 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr1 35077509 35110020 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 50780583 50780677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 50791373 52422211 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 DHRS12,DLEU7,DLEU7-AS1,FAM124A,GUCY1B2,INTS6,LINC00282,MIR4703,MIR5693,RNASEH2B,RNASEH2B-AS1,SERPINE3,WDFY2 chr13 50797989 50821693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 3508012 3508100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF6 chr13 50805532 50824652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 50813168 50836419 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 50813217 50834065 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 50813217 50834240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50813313 50834059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 50833701 50925276 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 50833702 50925276 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 50833702 50925276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50833702 50925276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50837365 50925150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 50863921 51798963 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 DLEU7,DLEU7-AS1,FAM124A,GUCY1B2,RNASEH2B,RNASEH2B-AS1 chr13 50864645 50864732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 50865607 50865697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 50900000 115169878 Loss Gastric cancer 5K BAC array CGH 17908304 A2LD1,ABCC4,ABHD13,ADPRHL1,ALG11,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CCDC70,CDC16,CHAMP1,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU7,DLEU7-AS1,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM124A,FAM155A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GAS6,GAS6-AS1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRK1,GRTP1,GUCY1B2,HNRNPA1L2,HS6ST3,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00552,LINC00558,LINC00559,LINC00565,LMO7,LOC100506394,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR1297,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR5693,MIR622,MIR623,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RASA3,RBM26,RBM26-AS1,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERPINE3,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,SUGT1,TBC1D4,TDRD3,TEX29,TEX30,TFDP1,TGDS,THSD1,TM9SF2,TMCO3,TMTC4,TNFSF13B,TPP2,TPTE2P3,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UPF3A,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr13 50900000 55300000 Deletion T-cell acute lymphoblastic leukemia Array CGH 18185524 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,DLEU7,DLEU7-AS1,FAM124A,GUCY1B2,HNRNPA1L2,INTS6,LECT1,LINC00282,LINC00558,MIR1297,MIR4703,MIR5693,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,RNASEH2B,RNASEH2B-AS1,SERPINE3,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 50900000 55300000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,DLEU7,DLEU7-AS1,FAM124A,GUCY1B2,HNRNPA1L2,INTS6,LECT1,LINC00282,LINC00558,MIR1297,MIR4703,MIR5693,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,RNASEH2B,RNASEH2B-AS1,SERPINE3,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 50900000 90000000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ALG11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CCDC70,CKAP2,CLN5,COMMD6,CTAGE11P,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU7,DLEU7-AS1,EDNRB,FAM124A,FBXL3,GUCY1B2,HNRNPA1L2,INTS6,IRG1,KCTD12,KLF12,KLF5,KLHL1,LECT1,LINC00282,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00381,LINC00433,LINC00439,LINC00446,LINC00550,LINC00558,LMO7,MIR1297,MIR3169,MIR3665,MIR4500,MIR4500HG,MIR4703,MIR5007,MIR5693,MIR759,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RBM26,RBM26-AS1,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERPINE3,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,SUGT1,TBC1D4,TDRD3,THSD1,TPTE2P3,UCHL3,UTP14C,VPS36,WDFY2 chr13 50900000 95000000 Loss Gastric cancer 5K BAC array CGH 17908304 ALG11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CCDC70,CKAP2,CLN5,COMMD6,CTAGE11P,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU7,DLEU7-AS1,EDNRB,FAM124A,FBXL3,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GUCY1B2,HNRNPA1L2,INTS6,IRG1,KCTD12,KLF12,KLF5,KLHL1,LECT1,LINC00282,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00550,LINC00558,LINC00559,LMO7,MIR1297,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3665,MIR4500,MIR4500HG,MIR4703,MIR5007,MIR5693,MIR622,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RBM26,RBM26-AS1,RNASEH2B,RNASEH2B-AS1,RNF219,SCEL,SERPINE3,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,SUGT1,TBC1D4,TDRD3,THSD1,TPTE2P3,UCHL3,UTP14C,VPS36,WDFY2 chr1 35091719 35097934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35091719 35097934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50932662 50933533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50932662 50933533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50941887 50942182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50941887 50942184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 50941887 50942184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 50968157 50968388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35103624 35167773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35103624 35167773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51056368 51056943 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 51056485 51234172 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 51056485 51234172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51056485 51234172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51056612 51056934 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr13 51056645 51232130 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 51058561 51058669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51058563 51058669 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 51064604 51064704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 51066056 51066351 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 51066056 51066351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51066058 51066352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51070543 51071931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51071839 51071939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 51075451 51599619 Gain and loss Pancreatic cancer SNP array 17952125 DLEU7,DLEU7-AS1,GUCY1B2,RNASEH2B,RNASEH2B-AS1 chr1 35109053 35166662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 51102446 51133647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 35121456 35121556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 51228211 51228306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 51240132 51276294 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 51240132 51276294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51240132 51276294 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 51240132 51276294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51242920 51276235 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr1 3512512 3584050 Gain and loss Pancreatic cancer SNP array 17952125 MEGF6,TP73,TPRG1L,WRAP73 chr13 51285484 51317287 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DLEU7 chr13 51285484 51317287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLEU7 chr13 51285484 51317287 Gain and loss Pancreatic cancer SNP array 17952125 DLEU7 chr13 51285484 51317287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEU7 chr13 51288014 51288103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLEU7 chr13 51290306 114142980 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-934K arrays 21546498 A2LD1,ABCC4,ABHD13,ADPRHL1,ALG11,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CCDC70,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU7,DLEU7-AS1,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM124A,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,GUCY1B2,HNRNPA1L2,HS6ST3,ING1,INTS6,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00558,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR1297,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR5693,MIR622,MIR623,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RBM26,RBM26-AS1,RNASEH2B,RNASEH2B-AS1,RNF113B,RNF219,SCEL,SERPINE3,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,SUGT1,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr13 51334117 51338373 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DLEU7 chr13 51334118 51338367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DLEU7 chr13 51334118 51338367 Gain and loss Pancreatic cancer SNP array 17952125 DLEU7 chr13 51334118 51338372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLEU7 chr13 51334118 51338372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEU7 chr1 3513616 3513677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF6 chr13 51374310 51374410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLEU7 chr13 51376263 51376354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLEU7 chr13 51381712 51382185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEU7,DLEU7-AS1 chr13 51402577 51501779 Gain and loss Pancreatic cancer SNP array 17952125 DLEU7,DLEU7-AS1,RNASEH2B,RNASEH2B-AS1 chr13 51404805 51483631 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DLEU7,DLEU7-AS1,RNASEH2B-AS1 chr13 51404810 51483631 Gain and loss Pancreatic cancer SNP array 17952125 DLEU7,DLEU7-AS1,RNASEH2B-AS1 chr13 51404811 51483631 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DLEU7,DLEU7-AS1,RNASEH2B-AS1 chr13 51404811 51483631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLEU7,DLEU7-AS1,RNASEH2B-AS1 chr13 51404811 51483631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEU7,DLEU7-AS1,RNASEH2B-AS1 chr13 51438879 51439286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51450721 52301042 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1015K arrays 21546498 FAM124A,GUCY1B2,INTS6,MIR4703,MIR5693,RNASEH2B,RNASEH2B-AS1,SERPINE3,WDFY2 chr13 51461217 51461317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNASEH2B-AS1 chr13 51484525 51501779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNASEH2B,RNASEH2B-AS1 chr13 51484535 51501779 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNASEH2B,RNASEH2B-AS1 chr1 35148993 36659227 LOH Normal High-resolution SNP genotyping 21211785 ADPRHL2,C1orf212,C1orf216,CLSPN,COL8A2,DLGAP3,EIF2C1,EIF2C3,EIF2C4,GJA4,GJB3,GJB4,GJB5,KIAA0319L,LOC653160,MAP7D1,NCDN,PSMB2,SFPQ,TEKT2,TFAP2E,TRAPPC3,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 35148993 36695607 LOH Normal High-resolution SNP genotyping 21211785 ADPRHL2,C1orf212,C1orf216,CLSPN,COL8A2,DLGAP3,EIF2C1,EIF2C3,EIF2C4,GJA4,GJB3,GJB4,GJB5,KIAA0319L,LOC653160,MAP7D1,NCDN,PSMB2,SFPQ,TEKT2,TFAP2E,THRAP3,TRAPPC3,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 35148993 36745506 LOH Normal High-resolution SNP genotyping 21211785 ADPRHL2,C1orf212,C1orf216,CLSPN,COL8A2,DLGAP3,EIF2C1,EIF2C3,EIF2C4,GJA4,GJB3,GJB4,GJB5,KIAA0319L,LOC653160,MAP7D1,NCDN,PSMB2,SFPQ,TEKT2,TFAP2E,THRAP3,TRAPPC3,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr13 51496828 51504357 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNASEH2B chr13 51496828 51504357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNASEH2B chr13 51496828 51504357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNASEH2B chr1 35151613 36713972 LOH Normal High-resolution SNP genotyping 21211785 ADPRHL2,C1orf212,C1orf216,CLSPN,COL8A2,DLGAP3,EIF2C1,EIF2C3,EIF2C4,GJA4,GJB3,GJB4,GJB5,KIAA0319L,LOC653160,MAP7D1,NCDN,PSMB2,SFPQ,TEKT2,TFAP2E,THRAP3,TRAPPC3,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 35152981 36708820 LOH Normal High-resolution SNP genotyping 21211785 ADPRHL2,C1orf212,C1orf216,CLSPN,COL8A2,DLGAP3,EIF2C1,EIF2C3,EIF2C4,GJA4,GJB3,GJB4,GJB5,KIAA0319L,LOC653160,MAP7D1,NCDN,PSMB2,SFPQ,TEKT2,TFAP2E,THRAP3,TRAPPC3,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr13 51535557 51536772 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNASEH2B chr13 51536906 51601215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GUCY1B2,RNASEH2B chr13 51536906 51601215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY1B2,RNASEH2B chr13 51536906 51601215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1B2,RNASEH2B chr1 35155537 36390749 LOH Normal High-resolution SNP genotyping 21211785 C1orf212,C1orf216,CLSPN,DLGAP3,EIF2C1,EIF2C4,GJA4,GJB3,GJB4,GJB5,KIAA0319L,LOC653160,NCDN,PSMB2,SFPQ,TFAP2E,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr1 35155537 36632829 LOH Normal High-resolution SNP genotyping 21211785 ADPRHL2,C1orf212,C1orf216,CLSPN,COL8A2,DLGAP3,EIF2C1,EIF2C3,EIF2C4,GJA4,GJB3,GJB4,GJB5,KIAA0319L,LOC653160,MAP7D1,NCDN,PSMB2,SFPQ,TEKT2,TFAP2E,TRAPPC3,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr13 51580007 51580039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GUCY1B2 chr1 35158547 36334668 LOH Normal High-resolution SNP genotyping 21211785 C1orf212,C1orf216,CLSPN,DLGAP3,EIF2C4,GJA4,GJB3,GJB4,GJB5,KIAA0319L,LOC653160,NCDN,PSMB2,SFPQ,TFAP2E,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB chr13 51604779 51631997 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 GUCY1B2 chr13 51604780 51631933 Gain and loss Pancreatic cancer SNP array 17952125 GUCY1B2 chr13 51604780 51631997 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GUCY1B2 chr13 51604780 51631997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY1B2 chr13 51604780 51631997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1B2 chr13 51639847 51666603 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GUCY1B2 chr13 51639858 51726881 Gain and loss Pancreatic cancer SNP array 17952125 GUCY1B2 chr13 51647775 51666514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51670114 51824922 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM124A chr13 51670114 51824922 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 FAM124A chr13 51671000 51704000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr13 51691566 51761989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51691566 51761989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51704000 51735675 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr13 51725879 51726881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 51725879 51726881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51735176 51735280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 51823537 51823637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM124A chr13 51833080 51878321 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM124A chr13 51833080 51878321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM124A chr13 51833080 51878321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM124A chr13 51849306 51878630 Gain and loss Pancreatic cancer SNP array 17952125 FAM124A chr13 51872140 51872232 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 51872140 51872233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 51872140 51872235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 51884740 51922764 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR5693,SERPINE3 chr13 51884740 51922764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5693,SERPINE3 chr13 51884740 51922764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5693,SERPINE3 chr13 51884846 51922758 Gain and loss Pancreatic cancer SNP array 17952125 MIR5693,SERPINE3 chr13 51927496 51948758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INTS6,SERPINE3 chr13 51927496 51948758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INTS6,SERPINE3 chr13 51927575 51948758 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 INTS6,SERPINE3 chr13 51927597 51948758 Gain and loss Pancreatic cancer SNP array 17952125 INTS6,SERPINE3 chr13 51941704 51942022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INTS6 chr1 3519501 3575000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEGF6,TP73,TPRG1L,WRAP73 chr13 51959339 52178589 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 INTS6,MIR4703,WDFY2 chr13 51961129 52059223 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 INTS6 chr13 51961129 52059223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INTS6 chr13 51961129 52059223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INTS6 chr13 51969153 51995985 Loss Normal Birdsuite, version 1.5.2 22087296 INTS6 chr13 51975445 52059047 Gain and loss Pancreatic cancer SNP array 17952125 INTS6 chr13 51980343 51980443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INTS6 chr13 51994699 52018069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INTS6 chr13 51995751 52013000 Copy number Normal ReadDepth: A Parallel R Package 21305028 INTS6 chr13 51995985 52003786 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 INTS6 chr13 51995985 52003786 Loss Normal Birdsuite, version 1.5.2 22087296 INTS6 chr13 52003786 52043659 Loss Normal Birdsuite, version 1.5.2 22087296 INTS6 chr13 52030806 52030887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 52035491 52138331 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MIR4703 chr13 52035491 52138331 Gain Non-syndromic sensorineural hearing loss 610K,Agilent24M 19587683 MIR4703 chr13 52047000 52070299 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr13 52051564 114092980 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 A2LD1,ABCC4,ABHD13,ADPRHL1,ALG11,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CCDC70,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HNRNPA1L2,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00558,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR1297,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4703,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR622,MIR623,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,SUGT1,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr13 52089606 52115920 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 52089606 52115920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 52089606 52115920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 52089644 52115920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 52124964 52160434 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4703,WDFY2 chr13 52124964 52160434 Gain and loss Pancreatic cancer SNP array 17952125 MIR4703,WDFY2 chr13 52124975 52160434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4703,WDFY2 chr13 52124975 52160434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4703,WDFY2 chr1 35213888 35216894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 35213888 35216894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35213888 35216894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35214085 35250547 Gain and loss Pancreatic cancer SNP array 17952125 GJB3,GJB4,GJB5 chr13 52157850 52157950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 52162458 61356469 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,HNRNPA1L2,LECT1,LINC00282,LINC00558,MIR1297,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH17,PCDH8,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,TDRD3,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52175405 52211837 Gain and loss Pancreatic cancer SNP array 17952125 WDFY2 chr13 52175405 52211948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WDFY2 chr13 52175405 52211948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDFY2 chr13 52175405 52211948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDFY2 chr13 52176068 60428304 Deletion Breast cancer Illumina high-density SNP arrays 18852474 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,DIAPH3,HNRNPA1L2,LECT1,LINC00282,LINC00558,MIR1297,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH17,PCDH8,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52179435 52179546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDFY2 chr13 52183617 113351493 Loss Prostate cancer Array CGH 18632612 A2LD1,ABCC4,ABHD13,ALG11,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CCDC70,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,DACH1,DAOA,DAOA-AS1,DCT,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HNRNPA1L2,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00558,LINC00559,LMO7,MBNL2,METTL21C,METTL21CP1,MIR1297,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR622,MIR623,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,SUGT1,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr13 52191567 52192590 Gain and loss Pancreatic cancer SNP array 17952125 WDFY2 chr1 35219765 35270156 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GJA4,GJB3,GJB4,GJB5 chr1 35219765 35270156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GJA4,GJB3,GJB4,GJB5 chr1 35219765 35270156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GJA4,GJB3,GJB4,GJB5 chr13 52200000 109100000 Gain Splenic marginal zone lymphoma 44k aCGH 18492102 A2LD1,ABCC4,ABHD13,ALG11,ARGLU1,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf45,CCDC168,CCDC70,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COMMD6,CTAGE11P,DACH1,DAOA,DAOA-AS1,DCT,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HNRNPA1L2,HS6ST3,IPO5,IRG1,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00558,LINC00559,LMO7,MBNL2,METTL21C,METTL21CP1,MIR1297,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR622,MIR623,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,SUGT1,TBC1D4,TDRD3,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr13 52200000 114142980 Gain Medulloblastoma SNP arrays 21979893 A2LD1,ABCC4,ABHD13,ADPRHL1,ALG11,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CCDC70,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HNRNPA1L2,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00558,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR1297,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR622,MIR623,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,SUGT1,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr13 52200000 114142980 Loss Liposarcoma FISH, CGH 21253554 A2LD1,ABCC4,ABHD13,ADPRHL1,ALG11,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP7B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CCDC70,CKAP2,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HNRNPA1L2,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LECT1,LIG4,LINC00282,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00558,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR1297,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR5007,MIR548AN,MIR548AS,MIR622,MIR623,MIR759,MIR92A1,MRPS31P3,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,NEK3,NEK5,OLFM4,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,SUGT1,TBC1D4,TDRD3,TEX29,TEX30,TGDS,THSD1,TM9SF2,TMTC4,TNFSF13B,TPP2,TPTE2P3,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UTP14C,VPS36,WDFY2,ZIC2,ZIC5 chr13 52200000 57600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,HNRNPA1L2,LECT1,LINC00282,LINC00558,MIR1297,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52200000 57600000 Deletion craniofacial dysmorphism array comparative genomic hybridization 21918468 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,HNRNPA1L2,LECT1,LINC00282,LINC00558,MIR1297,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52200000 57600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,HNRNPA1L2,LECT1,LINC00282,LINC00558,MIR1297,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52200000 57600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ALG11,ATP7B,CCDC70,CKAP2,DHRS12,HNRNPA1L2,LECT1,LINC00282,LINC00558,MIR1297,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,PCDH8,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52200000 72100000 Deletion Glioblastoma multiforme 50K Xba SNP mapping arrays (Affymetrix) 21750150 ALG11,ATP7B,ATXN8OS,CCDC70,CKAP2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,HNRNPA1L2,KLHL1,LECT1,LINC00282,LINC00348,LINC00550,LINC00558,MIR1297,MIR3169,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,TDRD3,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52200000 72100000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ALG11,ATP7B,ATXN8OS,CCDC70,CKAP2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,HNRNPA1L2,KLHL1,LECT1,LINC00282,LINC00348,LINC00550,LINC00558,MIR1297,MIR3169,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,TDRD3,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52200000 72100000 Loss Cancer array-based techniques 21183584 ALG11,ATP7B,ATXN8OS,CCDC70,CKAP2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,HNRNPA1L2,KLHL1,LECT1,LINC00282,LINC00348,LINC00550,LINC00558,MIR1297,MIR3169,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,TDRD3,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52200000 72100000 Loss Glioblastoma multiforme conventional CGH 21080181 ALG11,ATP7B,ATXN8OS,CCDC70,CKAP2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,HNRNPA1L2,KLHL1,LECT1,LINC00282,LINC00348,LINC00550,LINC00558,MIR1297,MIR3169,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,TDRD3,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52200000 77800000 Loss Breast cancer Conventional CGH 17393978 ALG11,ATP7B,ATXN8OS,BORA,BTF3P11,C13orf45,CCDC70,CKAP2,CLN5,COMMD6,CTAGE11P,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,FBXL3,HNRNPA1L2,IRG1,KCTD12,KLF12,KLF5,KLHL1,LECT1,LINC00282,LINC00347,LINC00348,LINC00381,LINC00550,LINC00558,LMO7,MIR1297,MIR3169,MIR5007,MIR759,MRPS31P3,MYCBP2,MYCBP2-AS1,MZT1,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,TBC1D4,TDRD3,THSD1,TPTE2P3,UCHL3,UTP14C,VPS36,WDFY2 chr13 52200001 72100000 Loss Prostate cancer Array CGH 16573809 ALG11,ATP7B,ATXN8OS,CCDC70,CKAP2,DACH1,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,HNRNPA1L2,KLHL1,LECT1,LINC00282,LINC00348,LINC00550,LINC00558,MIR1297,MIR3169,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,TDRD3,THSD1,TPTE2P3,UTP14C,VPS36,WDFY2 chr13 52221951 52511126 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP7B,CCDC70,DHRS12,LINC00282,WDFY2 chr1 35223827 35223956 Gain and loss Pancreatic cancer SNP array 17952125 GJB5 chr13 52282180 52282275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDFY2 chr13 52287351 52287918 Gain and loss Pancreatic cancer SNP array 17952125 WDFY2 chr13 52292597 52293178 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WDFY2 chr13 52292597 52293178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDFY2 chr13 52292597 52293178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDFY2 chr13 52292633 52293125 Gain and loss Pancreatic cancer SNP array 17952125 WDFY2 chr13 52298253 52298831 Gain and loss Pancreatic cancer SNP array 17952125 WDFY2 chr1 3523002 3584134 Gain and loss Pancreatic cancer SNP array 17952125 MEGF6,TP73,TPRG1L,WRAP73 chr13 52309138 52309238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY2 chr13 52312825 52312925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY2 chr13 52316109 52320775 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 WDFY2 chr13 52316115 52320776 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WDFY2 chr13 52316115 52320776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDFY2 chr13 52316115 52320776 Gain and loss Pancreatic cancer SNP array 17952125 WDFY2 chr13 52316115 52320776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDFY2 chr13 52318001 52320500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDFY2 chr13 52330332 52360044 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DHRS12,WDFY2 chr13 52332374 52366806 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DHRS12,WDFY2 chr13 52388882 53418695 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG11,ATP7B,CCDC70,CKAP2,HNRNPA1L2,LECT1,LINC00282,MIR759,MRPS31P3,NEK3,NEK5,PCDH8,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36 chr13 52397246 52398246 Loss Osteosarcoma References 21215367 LINC00282 chr13 52433321 52433421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 52438164 52438232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC70 chr1 35248854 35252559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GJB3 chr13 52500960 52524187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP7B chr13 52500960 52524187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP7B chr13 52500960 52524187 Gain and loss Pancreatic cancer SNP array 17952125 ATP7B chr13 52500960 52524187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP7B chr13 52500972 52524189 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP7B chr13 52503312 53315931 LOH Normal High-resolution SNP genotyping 21211785 ALG11,ATP7B,CKAP2,HNRNPA1L2,LECT1,MRPS31P3,NEK3,NEK5,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36 chr13 52503312 53416007 LOH Normal High-resolution SNP genotyping 21211785 ALG11,ATP7B,CKAP2,HNRNPA1L2,LECT1,MIR759,MRPS31P3,NEK3,NEK5,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36 chr13 52523853 72250500 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ALG11,ATP7B,ATXN8OS,CKAP2,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,HNRNPA1L2,KLHL1,LECT1,LINC00348,LINC00550,LINC00558,MIR1297,MIR3169,MIR5007,MIR759,MRPS31P3,NEK3,NEK5,OLFM4,OR7E156P,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SUGT1,TDRD3,THSD1,TPTE2P3,UTP14C,VPS36 chr13 52574032 53557005 LOH Normal High-resolution SNP genotyping 21211785 ALG11,ATP7B,CKAP2,HNRNPA1L2,LECT1,MIR759,MRPS31P3,NEK3,NEK5,PCDH8,SUGT1,THSD1,TPTE2P3,UTP14C,VPS36 chr13 52601442 52603579 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ALG11,UTP14C chr1 3526679 3526779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF6 chr13 52672117 52674548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEK5 chr13 52672117 52674548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK5 chr13 52672501 52674500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEK5 chr13 52713104 53725533 LOH Normal High-resolution SNP genotyping 21211785 CKAP2,HNRNPA1L2,LECT1,MIR759,MRPS31P3,NEK3,OLFM4,PCDH8,SUGT1,THSD1,TPTE2P3,VPS36 chr13 52730213 52730506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK3 chr13 52730217 52730508 Gain and loss Pancreatic cancer SNP array 17952125 NEK3 chr13 52730217 52730508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK3 chr13 52839981 52840092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 52843611 53067825 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CKAP2,THSD1,TPTE2P3,VPS36 chr13 52873545 53725533 LOH Normal High-resolution SNP genotyping 21211785 CKAP2,HNRNPA1L2,LECT1,MIR759,OLFM4,PCDH8,SUGT1,THSD1,TPTE2P3,VPS36 chr1 35291656 35297459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 52935526 52935618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53047774 54871287 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CKAP2,HNRNPA1L2,LECT1,LINC00558,MIR759,OLFM4,PCDH8,SUGT1,TPTE2P3 chr13 53049604 53060483 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CKAP2 chr13 53049604 53060684 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CKAP2 chr13 53089267 53099756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TPTE2P3 chr1 35312707 35327828 Gain and loss Pancreatic cancer SNP array 17952125 C1orf212 chr13 53128841 53140365 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TPTE2P3 chr13 53132772 53138252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPTE2P3 chr1 3531416 3536549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 3531416 3536549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35317559 35354047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf212,DLGAP3 chr1 35317559 35354047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf212,DLGAP3 chr13 53204015 57297991 Loss Urothelial carcinoma array CGH validated by FISH 21177765 HNRNPA1L2,LECT1,LINC00558,MIR1297,MIR5007,MIR759,OLFM4,PCDH8,SUGT1 chr13 53226830 53262432 Deletion Prostate cancer aCGH 22341455 SUGT1 chr13 53262597 53262687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53267029 53267129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53277398 53313946 Deletion Prostate cancer aCGH 22341455 LECT1 chr1 35328819 35328909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35330663 35330743 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 35330663 35330754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 35333167 35333250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP3 chr13 53384184 53384274 Deletion Prostate cancer aCGH 22341455 MIR759 chr13 53418108 53422773 Deletion Prostate cancer aCGH 22341455 PCDH8 chr13 53422067 53422391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH8 chr13 53422950 53423050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53432730 53432830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53433780 53433930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53483586 53528435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 53542672 53542761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 53572049 54515905 LOH Normal High-resolution SNP genotyping 21211785 LINC00558,OLFM4 chr13 53576697 53576797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53582355 53626982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OLFM4 chr13 53590684 53590977 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 35360210 35360672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP3 chr13 53602971 53626191 Deletion Prostate cancer aCGH 22341455 OLFM4 chr13 53614018 53614050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLFM4 chr13 53624954 53625054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLFM4 chr13 53632932 53633012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53672603 53672703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53685297 53685402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3537191 3556504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPRG1L,WRAP73 chr1 3537191 3556504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPRG1L,WRAP73 chr13 53798181 54023468 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr13 53813507 54457753 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00558 chr13 53822041 53972318 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 53822041 53978782 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 53831130 53831166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53886296 53978782 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 53904588 53904681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35390831 35390918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 53912798 53913472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 53912798 53913472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 53912798 53913472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 53912840 53913451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 53920184 53974221 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 53931675 53932001 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 53934169 53934222 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 53936097 53978782 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 53942199 53978782 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 53960173 53960267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35399598 35399915 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 54035578 54372496 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 35403661 35556637 Gain and loss Pancreatic cancer SNP array 17952125 LOC653160,ZMYM1,ZMYM6,ZMYM6NB chr13 54062064 54062155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54073270 54098094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 54203892 54206490 Loss Normal 244K array 17666407 NOT_FOUND chr1 35421790 35431322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35421790 35431322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35426890 35427192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 54269694 55151336 Deletion Normal Affymetrix 6.0 microarrays 20967226 LINC00558,MIR1297 chr13 54283746 54283826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35430001 35431500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 54330000 54450000 Loss Acute lymphoblastic leukemia - 21339820 LINC00558 chr1 35434157 35434250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 54364547 54409293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00558 chr13 54415236 54415336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00558 chr13 54419445 54552662 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LINC00558 chr13 54420373 54555030 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 LINC00558 chr1 35444969 35445119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 35444975 35445119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 54466710 55614490 LOH Normal High-resolution SNP genotyping 21211785 MIR1297 chr13 54536785 54666016 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 54536785 54669924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 54557952 54651953 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 54572483 54597569 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 54576937 54597569 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 54578072 54578137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54589371 54652811 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 54589371 54669924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 54599344 57597514 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR1297,MIR5007 chr13 54606391 54606520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54606615 54606715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54714662 54714762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54741117 54741217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54816929 54817029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54834198 54834286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54839180 54839469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 54850597 54850685 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 35485580 35486301 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM6 chr13 54865809 55464860 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 MIR1297 chr13 54914299 54914399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 54947840 54947940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55049098 55049220 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 55068372 55232106 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 35507155 35660131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SFPQ,ZMYM1 chr1 35507155 35660131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFPQ,ZMYM1 chr13 55098944 55227718 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 55109545 55188600 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 55109545 55214045 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 55114325 55227718 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 55120510 56804648 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 MIR5007 chr13 55122813 55232106 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 55122813 55324204 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 3551601 3551681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WRAP73 chr13 55162446 55214045 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 55162446 55227718 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 55189071 55189142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55227572 55301732 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 55264309 55264504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 55300000 59600000 Loss Esophageal squamous carcinoma Array CGH 17470683 MIR5007,PCDH17,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 55300000 73300000 Amplification head and neck squamous cell carcinoma CGH 17671120 ATXN8OS,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,KLHL1,LINC00348,LINC00550,MIR3169,MIR5007,MZT1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,TDRD3 chr13 55300000 73300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ATXN8OS,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,KLHL1,LINC00348,LINC00550,MIR3169,MIR5007,MZT1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,TDRD3 chr13 55300000 73300000 Loss Gastric cancer 5K BAC array CGH 17908304 ATXN8OS,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,KLHL1,LINC00348,LINC00550,MIR3169,MIR5007,MZT1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,TDRD3 chr13 55300000 79000000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00347,LINC00348,LINC00381,LINC00439,LINC00446,LINC00550,LMO7,MIR3169,MIR3665,MIR5007,MYCBP2,MYCBP2-AS1,MZT1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SCEL,SLAIN1,TBC1D4,TDRD3,UCHL3 chr13 55300000 79000000 Loss Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00347,LINC00348,LINC00381,LINC00439,LINC00446,LINC00550,LMO7,MIR3169,MIR3665,MIR5007,MYCBP2,MYCBP2-AS1,MZT1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,SCEL,SLAIN1,TBC1D4,TDRD3,UCHL3 chr13 55300000 95000000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,EDNRB,FBXL3,GPC5,GPC5-AS1,GPC6,GPC6-AS2,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00550,LINC00559,LMO7,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3665,MIR4500,MIR4500HG,MIR5007,MIR622,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,TBC1D4,TDRD3,UCHL3 chr13 55300000 95000000 Loss Gastric cancer 5K BAC array CGH 17908304 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,EDNRB,FBXL3,GPC5,GPC5-AS1,GPC6,GPC6-AS2,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00550,LINC00559,LMO7,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3665,MIR4500,MIR4500HG,MIR5007,MIR622,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,TBC1D4,TDRD3,UCHL3 chr1 35530384 35530686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35530388 35530686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 55389186 55389274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55437849 55438085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55462096 55462196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55471356 55472583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35548462 35548613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM1 chr13 55508973 70524995 Copy number gain Normal High-resolution SNP genotyping 21211785 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,KLHL1,LINC00550,MIR3169,MIR5007,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,TDRD3 chr13 55515755 55515795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55517021 55517101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55517684 55517759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35553398 35562647 Loss Normal 244K array 17666407 ZMYM1 chr13 55558953 55593081 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 55583840 55721381 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr13 55603051 55603151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55612092 55612192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35562504 35562586 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM1 chr1 35562511 35562587 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM1 chr13 55673145 57658355 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR5007 chr1 35568185 35692097 Gain and loss Pancreatic cancer SNP array 17952125 SFPQ,ZMYM1 chr1 35568213 35569189 Gain Normal 244K array 17666407 ZMYM1 chr13 55686508 55689077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 55706024 55707650 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 55739574 55769981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR5007 chr13 55829311 56713633 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-836K arrays 21546498 NOT_FOUND chr13 55834462 55834532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55866152 55906043 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 35588910 35589795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 55898140 55898178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3558988 3640327 Amplification Lung cancer Bayesian Detection of Shared Aberrations for aCGH 21512611 TP73,WRAP73 chr1 3558989 3639716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TP73,WRAP73 chr1 3558989 3639716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TP73,WRAP73 chr13 55901625 55901725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 55939086 55939165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35600000 36900000 Amplification Lung cancer aCGH 21911935 ADPRHL2,C1orf216,CLSPN,COL8A2,EIF2C1,EIF2C3,EIF2C4,FAM176B,KIAA0319L,LSM10,MAP7D1,NCDN,OSCP1,PSMB2,SFPQ,SH3D21,STK40,TEKT2,TFAP2E,THRAP3,TRAPPC3,ZMYM4 chr13 56047699 56049363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 56138856 56162164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 56173423 57145944 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr13 56186562 56186688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 56186562 56186770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 56236919 56237019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 56272153 58089683 LOH Normal High-resolution SNP genotyping 21211785 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 56299162 57764988 LOH Normal High-resolution SNP genotyping 21211785 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 56352203 56352281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 56357416 56357737 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 56357416 56357737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56357499 56357735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 56376210 56407640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 56430705 58619571 LOH Normal High-resolution SNP genotyping 21211785 PCDH17,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 56471348 56487015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 3564723 3569846 Gain and loss Pancreatic cancer SNP array 17952125 TP73,WRAP73 chr13 56486602 56497669 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56500000 80800000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00347,LINC00348,LINC00381,LINC00439,LINC00446,LINC00550,LMO7,MIR3169,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,TBC1D4,TDRD3,UCHL3 chr13 56508249 56508349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 56523625 56717361 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 56523625 56729961 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 56523625 56729961 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 56562261 56689097 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr13 56565708 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56599907 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56599907 56700137 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56600568 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56600568 56700137 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56600591 56729961 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 56600591 56729961 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 56600597 56729949 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 NOT_FOUND chr13 56601255 56674570 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56601255 56701431 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56601405 56620893 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 56602064 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56602064 56687715 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56610801 56647025 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56610801 56674558 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56610801 56687703 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56610803 56650662 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 56611229 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56611234 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56611237 56674570 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56611237 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56611237 56688010 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56611367 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56611367 56687715 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56611368 102048824 Deletion Normal Arbitrated Peel-off 21527027 A2LD1,ABCC4,ATXN8OS,BORA,BTF3P11,C13orf45,CLDN10,CLDN10-AS1,CLN5,CLYBL,COMMD6,CTAGE11P,DACH1,DCT,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,FARP1,FBXL3,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00550,LINC00559,LMO7,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR548AN,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TBC1D4,TDRD3,TGDS,TM9SF2,TMTC4,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 56611368 102500664 Deletion Normal GeneGISTIC 21527027 A2LD1,ABCC4,ATXN8OS,BORA,BTF3P11,C13orf45,CLDN10,CLDN10-AS1,CLN5,CLYBL,COMMD6,CTAGE11P,DACH1,DCT,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,FARP1,FBXL3,FGF14,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,IRG1,ITGBL1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00550,LINC00559,LMO7,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR548AN,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TBC1D4,TDRD3,TGDS,TM9SF2,TMTC4,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 56611368 102500664 Deletion Normal Standard peel-off 21527027 A2LD1,ABCC4,ATXN8OS,BORA,BTF3P11,C13orf45,CLDN10,CLDN10-AS1,CLN5,CLYBL,COMMD6,CTAGE11P,DACH1,DCT,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,FARP1,FBXL3,FGF14,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,IRG1,ITGBL1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00550,LINC00559,LMO7,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR548AN,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TBC1D4,TDRD3,TGDS,TM9SF2,TMTC4,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 56613053 56616074 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 56613053 56616074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56619622 56622644 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr13 56619623 56622644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 56619623 56622644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56620437 56645597 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr13 56620437 56645599 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr13 56626196 56629217 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 56626196 56629217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 3566288 3566358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WRAP73 chr13 56632767 56635788 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 56632767 56635788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56637480 56656866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 56639332 56642353 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 56639332 56642353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56639332 56642353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56647025 56647173 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56647173 56656271 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56647720 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56648825 56726078 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 56648954 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56650416 56686891 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 56650539 56686864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 56652161 56690791 Deletion Normal - 21790672 NOT_FOUND chr13 56654604 56686742 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 56654604 56686742 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 56656259 56674558 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56656259 56676369 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56656259 56687703 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56656271 56676381 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56656271 56676381 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 56656271 56676381 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56656271 56699202 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56656271 56701431 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56656290 56694631 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 56656615 56676369 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56657400 56687078 Loss Normal 244K array 17666407 NOT_FOUND chr1 35666003 35666081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56661136 56676369 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56661279 56676369 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56661752 56676369 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 56676381 56687715 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56676514 56676934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56685110 56686380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 56687715 56688010 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56688010 56694631 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56694631 56721044 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 35670501 35675000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 56711001 56711064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35671679 35795591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr1 35671679 35795591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr13 56721044 56736398 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56736398 56767188 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56757306 56757406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 56763915 56790005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 56767188 56786596 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56784440 114051465 Duplication Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 A2LD1,ABCC4,ABHD13,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TDRD3,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 56786596 56786968 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56786870 56787576 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 56786874 56788044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 56805245 114142980 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TDRD3,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 56842712 56848581 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 56844933 56845933 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 56857712 56857772 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 56872356 59648355 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 PCDH17,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 56873502 56873849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 56875662 56876561 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr13 56881282 56882282 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 56881285 56882285 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 56903507 56904507 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 56911945 62479764 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-984K arrays 21546498 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,MIR3169,PCDH17,PCDH20,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,TDRD3 chr1 35692502 35701466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 57009787 57659539 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 NOT_FOUND chr13 57033820 57033920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35703682 35732148 Inversion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr1 3570497 3589794 Gain and loss Pancreatic cancer SNP array 17952125 TP73 chr13 57079988 57080088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35708064 35730018 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 57103789 57201066 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 57103790 57201066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 57103790 57201066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 57103790 57201066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 57103945 57138833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 57104501 57107000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 57133857 57165294 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 57148389 58640050 LOH Normal High-resolution SNP genotyping 21211785 PCDH17,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr1 35717151 35762106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYM4 chr13 57234039 57234072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 57237964 57238033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 57273870 57273964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 57284071 57284448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 57356551 57356622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 57356551 57356622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 57372340 57372440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35737833 35776236 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM4 chr13 57425601 57459269 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 57426928 57426985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 57456606 57456662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 57463485 57463578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 57463485 57463599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 57463486 57463598 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 35747930 35749626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr1 3574808 3606801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TP73 chr13 57487142 57497791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 57488270 57495031 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 57488282 57495031 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 3575001 3641500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TP73 chr13 57500241 57692811 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 NOT_FOUND chr1 357522 358460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 57539539 57539639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 57561529 57561629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 357583 511231 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4F16,OR4F29,OR4F3 chr1 357583 682895 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100133331,OR4F16,OR4F29,OR4F3 chr13 57588859 57589024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 57600000 105800000 Loss Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 A2LD1,ABCC4,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf45,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COMMD6,CTAGE11P,DACH1,DCT,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,ERCC5,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,IRG1,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00550,LINC00559,LMO7,MBNL2,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TBC1D4,TDRD3,TEX30,TGDS,TM9SF2,TMTC4,TPP2,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 57600000 60500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 DIAPH3,PCDH17,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 57600000 77800000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,FBXL3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00347,LINC00348,LINC00381,LINC00550,LMO7,MIR3169,MYCBP2,MYCBP2-AS1,MZT1,OR7E156P,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,TBC1D4,TDRD3,UCHL3 chr13 57693763 57742434 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 57695924 57728218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 57702800 57730387 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 57707433 57730387 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E chr13 57749820 57750411 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 57783638 57817199 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 57802314 58408332 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH17 chr13 57942765 57943080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 57944549 57944649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35795001 35829500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZMYM4 chr1 35795661 35804963 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr1 35795661 35804963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr13 57968901 57989044 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 57984465 57986391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 57999790 57999886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 57999792 57999886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 57999793 57999886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 58000777 58001903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 58001574 58003083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 58076259 98190229 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCC4,ATXN8OS,BORA,BTF3P11,C13orf45,CLDN10,CLDN10-AS1,CLN5,COMMD6,CTAGE11P,DACH1,DCT,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DZIP1,EDNRB,FBXL3,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR180,HS6ST3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00550,LINC00559,LMO7,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3169,MIR3665,MIR4500,MIR4500HG,MIR622,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,RAP2A,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,TBC1D4,TDRD3,TGDS,UCHL3,UGGT2 chr13 58099104 58099204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58104877 58104977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35811558 35833512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr1 35811558 35833512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr1 3581414 3581725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TP73 chr1 35815525 35879730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr1 35815525 35879730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYM4 chr13 58174550 58174624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58193950 58194050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58205788 58303064 Deletion Prostate cancer aCGH 22341455 PCDH17 chr13 58223182 58224368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH17 chr13 58234013 58254738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCDH17 chr13 58242000 114125000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH17,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TDRD3,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 58253518 58253603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH17 chr13 58272075 58275623 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PCDH17 chr13 58278252 58278352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH17 chr1 358278 820104 Copy number Lung cancer paired-end sequencing 18438408 FAM41C,LINC00115,LOC100133331,LOC100288069,LOC643837,OR4F16,OR4F29,OR4F3 chr1 35830712 35830862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMYM4 chr13 58307924 58307988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58326457 58326557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58365657 58365721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58376405 58376505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58396330 59669272 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 58416244 58416344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58425347 58425447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58454187 58454271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58482467 58482733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 58482467 58482739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 58482509 58482741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 58484974 58485074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35848570 35853883 Gain and loss Pancreatic cancer SNP array 17952125 ZMYM4 chr13 58517488 58517588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58543597 58543938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35855217 35904644 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0319L,ZMYM4 chr13 58569641 58569741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58620840 58621031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58621051 58621289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58621062 58621162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58727654 61368564 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,TDRD3 chr13 58761213 58761425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58761509 58761610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58779773 58779808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 58795307 60293629 LOH Normal High-resolution SNP genotyping 21211785 DIAPH3 chr13 58811148 58986131 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr13 58839683 58872080 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 58919502 59875087 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 58952204 58952266 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 58953979 58954079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59000638 62487758 Copy number Lung cancer paired-end sequencing 18438408 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,MIR3169,PCDH20,TDRD3 chr13 59053690 59053760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59070492 59070824 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 59089309 59134110 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 59112739 59112817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59123680 60109698 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 59137718 59636120 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 59137718 59636120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 59137718 59636120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 59137723 59636120 Amplification Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr13 59137723 59636120 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr1 3592286 3673013 Gain and loss Pancreatic cancer SNP array 17952125 CCDC27,TP73,TP73-AS1 chr13 59239397 59327002 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr13 59246299 59636042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 3592579 3592659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP73 chr13 59354264 59354364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59377454 59377686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59377672 59377894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59377692 59377724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59396669 59396891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59396974 59397115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59409569 59409669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35942921 35991513 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0319L chr13 59454610 59454707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59495549 59495649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59499522 59499822 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 59499579 59500579 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 59506600 59506897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 59506602 59506897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 35952064 35957377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0319L chr1 35952064 35957377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0319L chr13 59577182 69840515 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,LINC00550,MIR3169,OR7E156P,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,TDRD3 chr1 35958406 36008155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0319L chr1 35958406 36008155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0319L chr13 59586170 59586270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59588239 59588271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59600000 62300000 Loss Esophageal squamous carcinoma Agilent Human Genome CGH Microarray Kit 244K 20200074 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,MIR3169,PCDH20,TDRD3 chr13 59600000 73300000 Loss Gastric cancer 5K BAC array CGH 17908304 ATXN8OS,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,KLHL1,LINC00348,LINC00550,MIR3169,MZT1,OR7E156P,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,TDRD3 chr13 59619641 61196239 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,TDRD3 chr13 59644287 59644387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59659873 59659965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 59659875 59659965 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 59659876 59659965 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 59677789 59677854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59684163 59684489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 59700000 90500000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00353,LINC00381,LINC00433,LINC00439,LINC00446,LINC00550,LMO7,MIR3169,MIR3665,MIR4500,MIR4500HG,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,OR7E156P,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,TBC1D4,TDRD3,UCHL3 chr13 59746911 59748141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 59747445 59747519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 35977629 35977629 Copy number Prostate cancer Illumina GA II sequencer 21307934 KIAA0319L chr13 59779446 59779694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 59830454 59830558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 59868592 60046002 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 59868592 60046012 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 59868592 60046012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 59868592 60046012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 59915733 59915833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 59924839 59924920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 60012509 60012598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 60048556 61196239 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,TDRD3 chr13 60068766 60068865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 60079541 60079641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 60085743 60085863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 60085752 60085832 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 60085752 60085832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 60092550 60092650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 60098485 60098564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 60109021 60109230 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 60109023 60110232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 60140471 60140540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 60151038 60154881 Loss Normal 244K array 17666407 NOT_FOUND chr13 60157441 60754377 LOH Normal High-resolution SNP genotyping 21211785 DIAPH3,DIAPH3-AS1,DIAPH3-AS2 chr1 36017903 36058992 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0319L,NCDN,TFAP2E chr13 60239716 60738118 Deletion Prostate cancer aCGH 22341455 DIAPH3,DIAPH3-AS1,DIAPH3-AS2 chr13 60258257 60258357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr13 60261695 60261794 Gain and loss Pancreatic cancer SNP array 17952125 DIAPH3 chr13 60261695 60261796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIAPH3 chr13 60267928 60268028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr13 60288831 60288924 Gain and loss Pancreatic cancer SNP array 17952125 DIAPH3 chr13 60288836 60288923 Gain and loss Pancreatic cancer SNP array 17952125 DIAPH3 chr13 60337559 60352015 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIAPH3 chr13 60338786 60371093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIAPH3 chr13 60345857 60369887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIAPH3 chr13 60355856 60371635 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIAPH3 chr13 60451035 60451866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIAPH3 chr1 36046415 36095007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMB2,TFAP2E chr1 36046415 36095007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMB2,TFAP2E chr13 60471440 60471540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr13 60499871 60499971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr13 60500000 109100000 Gain Glioblastoma multiforme aCGH 21080181 A2LD1,ABCC4,ABHD13,ARGLU1,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf45,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COMMD6,CTAGE11P,DACH1,DAOA,DAOA-AS1,DCT,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,IRG1,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LIG4,LINC00331,LINC00333,LINC00343,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3169,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH20,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TBC1D4,TDRD3,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 60500000 64100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,MIR3169,PCDH20,TDRD3 chr13 60500000 64100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 DIAPH3,DIAPH3-AS1,DIAPH3-AS2,MIR3169,PCDH20,TDRD3 chr13 60532958 60533023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr13 60607657 60607807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3,DIAPH3-AS1 chr13 60633440 60633540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr1 36065412 36191150 Gain and loss Pancreatic cancer SNP array 17952125 C1orf216,PSMB2 chr13 60682364 60682464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr13 60691026 60691126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr13 60694354 60694454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIAPH3 chr13 60798409 60798509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3608654 3608754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP73 chr13 60881819 60900080 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 60881822 60887282 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 60881822 60899983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 60881822 60899983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 60881992 60899983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 60881996 60899983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 60895207 60896207 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 60913484 60913639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 60913571 60936927 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 60925213 60926213 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 60955586 60956586 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 60957922 60958022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 60961179 61006405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TDRD3 chr13 60970590 61148012 Deletion Prostate cancer aCGH 22341455 TDRD3 chr1 36107996 36162486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 36107996 36162486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 61113549 63481793 Loss Anaplastic thyroid cancer 33K microarrays 18753363 MIR3169,PCDH20,TDRD3 chr13 61130127 61130211 Gain and loss Pancreatic cancer SNP array 17952125 TDRD3 chr13 61130127 61130211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD3 chr13 61156093 61156192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61162288 61162461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61162467 61162600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36117702 36182390 Amplification or deletion Cancer Array CGH 17440070 C1orf216 chr13 61232418 61232510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 36125560 36125660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61277284 61277810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 61332337 61332436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61332424 61332574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61367211 61367407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61367299 61367399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61367421 61367583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61369422 65951290 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR3169,OR7E156P,PCDH20 chr13 61400042 61584691 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 61409439 61413267 Duplication Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 NOT_FOUND chr13 61411198 61411291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61415290 61415390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61438307 61438386 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr13 61462158 61462333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61462329 61462566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61462371 61462471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61466108 61466408 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 61490742 61490842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61490750 61490850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61527710 61527810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61552399 61555517 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 36155350 36155430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61620484 61620621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61626610 61626710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61681803 61681903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36168906 36294649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf216,CLSPN,EIF2C4 chr1 36168906 36294649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf216,CLSPN,EIF2C4 chr13 61692156 61692256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61722125 62308067 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 MIR3169,PCDH20 chr13 61727322 61727422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61734545 61734668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61758881 61758932 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr13 61787256 61787417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61800122 61800518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 61921273 61921353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 61983817 61989654 Deletion Prostate cancer aCGH 22341455 PCDH20 chr13 62001226 62001326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62002860 62002943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62097238 62520980 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 62181307 62181402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36218769 36222968 Gain and loss Pancreatic cancer SNP array 17952125 CLSPN chr13 62203908 62542060 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 62208863 62520980 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 36223569 36228625 Gain and loss Pancreatic cancer SNP array 17952125 CLSPN chr13 62289673 62334606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 36229939 36234943 Gain and loss Pancreatic cancer SNP array 17952125 CLSPN chr13 62304229 62777468 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 62331778 62331830 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 62413762 62413862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62421805 62422120 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 62479764 67276774 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-985K arrays 21546498 OR7E156P,PCDH9 chr13 62502494 62531474 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr13 62503001 62536000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 62507519 62547100 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 62507519 62547100 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr13 62508243 62532639 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr13 62512827 62522151 Gain Normal TaqMan assays 20972442 NOT_FOUND chr13 62513698 62513812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 62515934 62546068 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr13 62523592 62539002 Gain Normal TaqMan assays 20972442 NOT_FOUND chr13 62536001 62542500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 62537487 111751131 Substitutions and indels small cell lung cancer array-CGH 20016488 A2LD1,ABCC4,ABHD13,ANKRD10,ARGLU1,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,DACH1,DAOA,DAOA-AS1,DCT,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TBC1D4,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 62542501 62547000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 62542864 62542964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62545631 114142980 Copy number Lung cancer paired-end sequencing 18438408 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 62545856 62545941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62554185 62554511 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 62561014 113120998 Copy number Lung cancer paired-end sequencing 18438408 A2LD1,ABCC4,ABHD13,ANKRD10,ARGLU1,ARHGEF7,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,DACH1,DAOA,DAOA-AS1,DCT,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 62577464 62608954 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr13 62588962 62589134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62588978 62589078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62610283 62610376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62702667 64929883 Copy number loss Normal High-resolution SNP genotyping 21211785 OR7E156P chr1 36271268 36284160 Gain and loss Pancreatic cancer SNP array 17952125 EIF2C4 chr13 62720849 62721053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62720926 62721026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62721064 62721297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 62773029 62811083 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr13 62843144 62872126 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 62856086 63054128 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 36289232 36556181 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADPRHL2,EIF2C1,EIF2C3,EIF2C4,TEKT2 chr13 62895490 63696479 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 36290892 36315541 Gain and loss Pancreatic cancer SNP array 17952125 EIF2C4 chr13 62936479 63343872 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 NOT_FOUND chr13 62993873 62993905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 63038001 63039500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 63068393 63292121 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr13 63122789 63134693 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 63132563 63271229 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr13 63140870 63165096 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 63152845 63268796 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr13 63157506 63273479 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr13 63160271 63264451 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr13 63160271 63271229 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 36318508 36319510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2C4 chr1 36318950 36319050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF2C4 chr1 36320001 36436000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EIF2C1,EIF2C3,EIF2C4 chr13 63209501 63220000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 63211614 63214633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 63214475 63214956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 36322263 36326462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2C4 chr1 36322263 36326462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2C4 chr13 63227094 63303323 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 63231043 63277373 Gain Autism qPCR 20531469 NOT_FOUND chr13 63243686 63260884 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 63255935 63256038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 63255935 63256038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 63255936 63256038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 36327073 36332119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 36327073 36332119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 63283257 63283741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 63283511 63283741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 63300981 63316259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 63303324 63835483 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr13 63309106 63309587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 63309167 63309590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 63309251 63316500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 63311277 63315688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 63313127 63313282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 36333424 36363408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2C1 chr1 36333424 36363408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2C1 chr13 63346586 63346899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 36334668 36368166 Copy number gain Normal High-resolution SNP genotyping 21211785 EIF2C1 chr13 63356940 63357028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36338557 36480225 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 EIF2C1,EIF2C3 chr1 36340823 36401066 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EIF2C1,EIF2C3 chr13 63410285 63410385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 63426405 63504969 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 63447585 63448556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 63549501 63551000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 63570657 63616366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 36359132 36439250 Gain and loss Pancreatic cancer SNP array 17952125 EIF2C1,EIF2C3 chr13 63607715 63664411 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 36361290 56762346 Loss Prostate cancer Array CGH 18632612 ACOT11,ADPRHL2,AGBL4,AKIRIN1,AKR1A1,ARTN,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BEND5,BEST4,BMP8A,BMP8B,BSND,BTBD19,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf177,C1orf185,C1orf210,C1orf228,C1orf50,CAP1,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CDCP2,CDKN2C,CITED4,CLDN19,CMPK1,COL8A2,COL9A2,CPT2,CSF3R,CTPS1,CYB5RL,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DEM1,DHCR24,DIO1,DMAP1,DMBX1,DMRTA2,DMRTB1,DNALI1,DPH2,EBNA1BP2,ECHDC2,EDN2,EIF2B3,EIF2C1,EIF2C3,ELAVL4,ELOVL1,EPHA10,EPS15,ERI3,ERMAP,FAAH,FAF1,FAM151A,FAM159A,FAM176B,FAM183A,FHL3,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,GJA9,GJA9-MYCBP,GLIS1,GNL2,GPBP1L1,GPX7,GRIK3,GUCA2A,GUCA2B,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HSPB11,HYI,INPP5B,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0494,KIAA0494-AS1,KIAA0754,KIF2C,KLF17,KNCN,KTI12,LDLRAD1,LEPRE1,LOC100129924,LOC100130557,LOC100507564,LOC100507634,LOC339442,LOC400752,LOC728431,LOC729041,LRP8,LRRC41,LRRC42,LSM10,LURAP1,MACF1,MAGOH,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR4422,MIR4781,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,NASP,NDUFS5,NFYC,NRD1,NSUN4,NT5C1A,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PLK3,PODN,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PRPF38A,PTCH2,PTPRF,RAB3B,RAD54L,RHBDL2,RIMKLA,RIMS3,RLF,RNF11,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SCP2,SELRC1,SF3A3,SH3D21,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC5A9,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,SPATA6,SSBP3,ST3GAL3,STIL,STK40,SZT2,TAL1,TCEANC2,TCTEX1D4,TEKT2,TESK2,THRAP3,TIE1,TMCO2,TMEM125,TMEM48,TMEM53,TMEM59,TMEM61,TMEM69,TOE1,TRABD2B,TRAPPC3,TRIT1,TSPAN1,TTC22,TTC39A,TTC4,TXNDC12,UQCRH,UROD,USP24,UTP11L,WDR65,YBX1,YIPF1,YRDC,ZC3H12A,ZCCHC11,ZFYVE9,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5,ZYG11A,ZYG11B chr13 63629285 64762176 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-994K arrays 21546498 OR7E156P chr13 63644891 63644991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 6365 44752 Loss Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr1 36374762 36387685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2C1 chr1 36374762 36387685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2C1 chr13 63753435 63787537 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 63801300 63801613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 3638184 3657126 Gain and loss Pancreatic cancer SNP array 17952125 TP73,TP73-AS1 chr1 36394153 36419037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2C3 chr1 36394153 36419037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2C3 chr13 63987470 64644534 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR7E156P chr1 36400000 70700000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACOT11,ADPRHL2,AGBL4,AK4,AKIRIN1,AKR1A1,ALG6,ANGPTL3,ARTN,ATG4C,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BEND5,BEST4,BMP8A,BMP8B,BSND,BTBD19,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf141,C1orf168,C1orf177,C1orf185,C1orf210,C1orf228,C1orf50,C1orf87,C8A,C8B,CACHD1,CAP1,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CDCP2,CDKN2C,CITED4,CLDN19,CMPK1,COL8A2,COL9A2,CPT2,CSF3R,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DEM1,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC6,DNALI1,DOCK7,DPH2,EBNA1BP2,ECHDC2,EDN2,EFCAB7,EIF2B3,EIF2C3,ELAVL4,ELOVL1,EPHA10,EPS15,ERI3,ERMAP,FAAH,FAF1,FAM151A,FAM159A,FAM176B,FAM183A,FGGY,FHL3,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,GADD45A,GJA9,GJA9-MYCBP,GLIS1,GNG12,GNG12-AS1,GNL2,GPBP1L1,GPX7,GRIK3,GUCA2A,GUCA2B,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HIVEP3,HOOK1,HPCAL4,HPDL,HSD52,HSPB11,HYI,IL12RB2,IL23R,INADL,INPP5B,INSL5,IPO13,IPP,ITGB3BP,JAK1,JUN,KANK4,KCNQ4,KDM4A,KDM4A-AS1,KIAA0494,KIAA0494-AS1,KIAA0754,KIF2C,KLF17,KNCN,KTI12,L1TD1,LDLRAD1,LEPR,LEPRE1,LEPROT,LINC00466,LOC100129924,LOC100130557,LOC100131060,LOC100507564,LOC100507634,LOC339442,LOC400752,LOC728431,LOC729041,LRP8,LRRC40,LRRC41,LRRC42,LRRC7,LSM10,LURAP1,MACF1,MAGOH,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIER1,MIR101-1,MIR1262,MIR30C1,MIR30E,MIR3117,MIR3659,MIR3671,MIR4255,MIR4422,MIR4711,MIR4781,MIR4794,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,MYSM1,NASP,NDUFS5,NFIA,NFYC,NRD1,NSUN4,NT5C1A,OMA1,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PARS2,PCSK9,PDE4B,PDZK1IP1,PDZK1IP1-AS1,PGM1,PIK3R3,PIN1P1,PLK3,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PRKAA2,PRPF38A,PTCH2,PTPRF,RAB3B,RAD54L,RAVER2,RHBDL2,RIMKLA,RIMS3,RLF,RNF11,RNF220,ROR1,RPE65,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SCP2,SELRC1,SERBP1,SF3A3,SGIP1,SH3D21,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC35D1,SLC5A9,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,SPATA6,SRSF11,SSBP3,ST3GAL3,STIL,STK40,SZT2,TACSTD2,TAL1,TCEANC2,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,THRAP3,TIE1,TM2D1,TMCO2,TMEM125,TMEM48,TMEM53,TMEM59,TMEM61,TMEM69,TOE1,TRABD2B,TRAPPC3,TRIT1,TSPAN1,TTC22,TTC39A,TTC4,TXNDC12,UBE2U,UQCRH,UROD,USP1,USP24,UTP11L,WDR65,WDR78,WLS,YBX1,YIPF1,YRDC,ZC3H12A,ZCCHC11,ZFYVE9,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5,ZYG11A,ZYG11B chr13 64008330 64008430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64045539 64045624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64080067 64080167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64095430 65126105 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 OR7E156P chr13 64100000 114142980 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss FISH and chromosome banding 20606397 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OR7E156P,OXGR1,PCCA,PCCA-AS1,PCDH9,PCDH9-AS2,PCDH9-AS3,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 64100000 67200000 Copy number Normal - 21701786 OR7E156P,PCDH9 chr1 3641501 3679500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC27,TP73,TP73-AS1 chr1 364158 2561861 Copy number Lung cancer paired-end sequencing 18438408 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM213B,FAM41C,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100133331,LOC100133445,LOC100288069,LOC115110,LOC148413,LOC254099,LOC643837,MIB2,MIR200A,MIR200B,MIR429,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,PANK4,PEX10,PLCH2,PLEKHN1,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 chr13 64198454 64213096 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 36420268 36464673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EIF2C3 chr13 64224937 65195030 LOH Normal High-resolution SNP genotyping 21211785 OR7E156P chr13 64233771 65195030 LOH Normal High-resolution SNP genotyping 21211785 OR7E156P chr13 64240249 64242424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 64250193 64251680 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr13 64280696 64309468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 64292090 64292403 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr13 64392196 64405079 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 64392196 64423206 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 64393231 64423206 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 64407184 64407216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36441811 36459577 Gain and loss Pancreatic cancer SNP array 17952125 EIF2C3 chr13 64430223 64431528 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 64430223 64431531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 64467750 64470216 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 NOT_FOUND chr13 64530337 64626695 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 64533701 64538300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 64535810 64536211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 36456725 36458848 Gain and loss Pancreatic cancer SNP array 17952125 EIF2C3 chr13 64598710 64598810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36462603 36543544 Copy number Lung cancer - 20668451 EIF2C3 chr1 36462603 36543544 Gain or loss Breast cancer - 20668451 EIF2C3 chr1 36462603 36543544 Gain or loss Cancer - 20668451 EIF2C3 chr1 36462603 36543544 Gain or loss Lung cancer - 20668451 EIF2C3 chr1 36462603 36543544 Gain or loss Ovarian cancer - 20668451 EIF2C3 chr1 36462603 36543544 Gain or loss Pancreas cancer - 20668451 EIF2C3 chr1 36462603 36543544 Gain or loss Prostate cancer - 20668451 EIF2C3 chr1 36462626 36542744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2C3 chr1 36462626 36542744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2C3 chr13 64699555 64700706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 64719678 64719778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36474324 36520590 Gain and loss Pancreatic cancer SNP array 17952125 EIF2C3 chr13 64768740 64768831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64768978 64769132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 64782119 64782480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 64782119 64782480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 64792965 64867546 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 36480086 36480344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2C3 chr13 64825001 64826500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 64870612 64870712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64890871 65055390 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 64964280 64964513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64964401 64964513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64964540 64964750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64969919 64970019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 64996091 67040422 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH9 chr1 36500000 66000000 Copy number Lissencephaly Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACOT11,ADPRHL2,AGBL4,AK4,AKIRIN1,AKR1A1,ALG6,ANGPTL3,ARTN,ATG4C,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BEND5,BEST4,BMP8A,BMP8B,BSND,BTBD19,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf168,C1orf177,C1orf185,C1orf210,C1orf228,C1orf50,C1orf87,C8A,C8B,CACHD1,CAP1,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CDCP2,CDKN2C,CITED4,CLDN19,CMPK1,COL8A2,COL9A2,CPT2,CSF3R,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DEM1,DHCR24,DIO1,DLEU2L,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJC6,DNALI1,DOCK7,DPH2,EBNA1BP2,ECHDC2,EDN2,EFCAB7,EIF2B3,EIF2C3,ELAVL4,ELOVL1,EPHA10,EPS15,ERI3,ERMAP,FAAH,FAF1,FAM151A,FAM159A,FAM176B,FAM183A,FGGY,FHL3,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,GJA9,GJA9-MYCBP,GLIS1,GNL2,GPBP1L1,GPX7,GRIK3,GUCA2A,GUCA2B,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HIVEP3,HOOK1,HPCAL4,HPDL,HSD52,HSPB11,HYI,INADL,INPP5B,IPO13,IPP,ITGB3BP,JAK1,JUN,KANK4,KCNQ4,KDM4A,KDM4A-AS1,KIAA0494,KIAA0494-AS1,KIAA0754,KIF2C,KLF17,KNCN,KTI12,L1TD1,LDLRAD1,LEPR,LEPRE1,LEPROT,LINC00466,LOC100129924,LOC100130557,LOC100131060,LOC100507564,LOC100507634,LOC339442,LOC400752,LOC728431,LOC729041,LRP8,LRRC41,LRRC42,LSM10,LURAP1,MACF1,MAGOH,MANEAL,MAP7D1,MAST2,MEAF6,MED8,MFSD2A,MIR101-1,MIR30C1,MIR30E,MIR3659,MIR3671,MIR4255,MIR4422,MIR4711,MIR4781,MIR4794,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MTF1,MUTYH,MYCBP,MYCL1,MYSM1,NASP,NDUFS5,NFIA,NFYC,NRD1,NSUN4,NT5C1A,OMA1,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PGM1,PIK3R3,PLK3,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PRKAA2,PRPF38A,PTCH2,PTPRF,RAB3B,RAD54L,RAVER2,RHBDL2,RIMKLA,RIMS3,RLF,RNF11,RNF220,ROR1,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SCP2,SELRC1,SF3A3,SH3D21,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC5A9,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,SPATA6,SSBP3,ST3GAL3,STIL,STK40,SZT2,TACSTD2,TAL1,TCEANC2,TCTEX1D4,TEKT2,TESK2,THRAP3,TIE1,TM2D1,TMCO2,TMEM125,TMEM48,TMEM53,TMEM59,TMEM61,TMEM69,TOE1,TRABD2B,TRAPPC3,TRIT1,TSPAN1,TTC22,TTC39A,TTC4,TXNDC12,UBE2U,UQCRH,UROD,USP1,USP24,UTP11L,WDR65,YBX1,YIPF1,YRDC,ZC3H12A,ZCCHC11,ZFYVE9,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5,ZYG11A,ZYG11B chr13 65035328 65035428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 65062295 65222213 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 65062295 65292451 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 65089767 65089867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 65092156 65092256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 65094528 65103708 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 65187792 65187892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3652005 3652103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP73 chr13 65215348 65215422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36521805 36521856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EIF2C3 chr13 65260065 65260895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 65268853 66189808 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-877K arrays 21546498 NOT_FOUND chr1 36528124 36532586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 65315940 65316040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 65336306 65336399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 36537412 36537542 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 36537415 36537552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 36543501 36557500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADPRHL2,TEKT2 chr1 36544785 36546358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 36545305 36563074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADPRHL2,COL8A2,TEKT2 chr1 36545305 36563074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADPRHL2,COL8A2,TEKT2 chr13 65460827 65486836 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 65496697 65496828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36552600 36585145 Gain and loss Pancreatic cancer SNP array 17952125 ADPRHL2,COL8A2,TEKT2 chr1 36553142 36553272 Gain and loss Pancreatic cancer SNP array 17952125 TEKT2 chr1 36553144 36553272 Gain and loss Pancreatic cancer SNP array 17952125 TEKT2 chr13 65546303 65546363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36557501 36563000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADPRHL2,COL8A2 chr1 36560219 36562342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL8A2 chr1 36560219 36562342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL8A2 chr1 36561922 36567405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL8A2 chr1 36563001 37192500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL8A2,CSF3R,FAM176B,LSM10,MAP7D1,MRPS15,OSCP1,SH3D21,STK40,THRAP3,TRAPPC3 chr13 65681290 65716219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 65700000 73300000 Loss Prostate cancer Array CGH 16461572 ATXN8OS,DACH1,KLHL1,LINC00348,LINC00550,MZT1,PCDH9,PCDH9-AS2,PCDH9-AS3 chr13 65700000 90000000 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00381,LINC00433,LINC00439,LINC00446,LINC00550,LMO7,MIR3665,MIR4500,MIR4500HG,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,TBC1D4,UCHL3 chr13 65741130 65742591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 65774966 66702464 Amplification Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr13 65774966 66702464 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 65774966 66702464 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr13 65774966 66702464 Deletion Normal BAC aCGH 22315515 NOT_FOUND chr13 65774967 66702469 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 65774968 66702464 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 65774970 66702464 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 65774970 66702578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 65774970 66702578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 65776788 66700573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 36577812 36624084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP7D1,TRAPPC3 chr1 36577812 36624084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP7D1,TRAPPC3 chr1 3658822 3678069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC27,TP73-AS1 chr1 3658822 3678069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC27,TP73-AS1 chr13 65883586 65884460 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 36590448 36599056 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 65920231 65938773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 65952585 65953585 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 36600737 36614213 Gain and loss Pancreatic cancer SNP array 17952125 TRAPPC3 chr13 66072781 66075422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 66072818 66075511 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 66098943 66424482 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 66102848 66102910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 66110636 66297368 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr13 66197698 66229437 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 66241267 66566190 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 36631618 36636080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP7D1 chr1 36631618 36636080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP7D1 chr13 66403758 66403833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36640909 36641047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP7D1 chr13 66470777 71622059 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ATXN8OS,KLHL1,LINC00348,LINC00550,PCDH9,PCDH9-AS2,PCDH9-AS3 chr1 36650611 37059062 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CSF3R,FAM176B,LSM10,MRPS15,OSCP1,SH3D21,STK40,THRAP3 chr13 66506774 66679448 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr13 66530037 66530137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36656095 36688639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 36656095 36688639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 36656638 36656766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 66627400 66627490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 66654724 66654809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 66691934 66692034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 66711848 66896963 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 PCDH9 chr13 66738965 66741330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 66759806 66759975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 66791263 66791363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 66843577 66843632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 66854634 66854734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 66876965 67804467 Deletion Prostate cancer aCGH 22341455 PCDH9,PCDH9-AS2,PCDH9-AS3 chr13 66901058 66901133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 66938767 67226773 Copy number loss Normal High-resolution SNP genotyping 21211785 PCDH9 chr1 36693960 36702556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THRAP3 chr1 36693960 36702556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THRAP3 chr1 36693996 36702545 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 THRAP3 chr13 66989348 66989448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67015195 67020778 Deletion Normal Standard GISTIC 21527027 PCDH9 chr13 67030438 67030496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH9 chr1 36704231 36721466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THRAP3 chr1 36704231 36721466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THRAP3 chr13 67078117 67195263 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 PCDH9 chr13 67100000 85300000 Gain Normal Human genome CGH 42k ARRAY PLATFORM 22144094 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00381,LINC00439,LINC00446,LINC00550,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,PCDH9,PCDH9-AS2,PCDH9-AS3,PIBF1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SPRY2,TBC1D4,UCHL3 chr13 67196875 67241318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCDH9 chr13 67200000 72100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATXN8OS,DACH1,KLHL1,LINC00348,LINC00550,PCDH9,PCDH9-AS2,PCDH9-AS3 chr13 67200000 72100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATXN8OS,DACH1,KLHL1,LINC00348,LINC00550,PCDH9,PCDH9-AS2,PCDH9-AS3 chr13 67207756 67207856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67240455 67240540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67252280 67263831 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PCDH9 chr13 67256110 67273562 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PCDH9 chr13 67261905 67262005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67276774 69737794 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-986K arrays 21546498 LINC00550,PCDH9,PCDH9-AS2,PCDH9-AS3 chr13 67279486 67279586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67291801 67291901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67304009 67304960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH9 chr13 67363476 69326471 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH9,PCDH9-AS2,PCDH9-AS3 chr13 67374488 67375375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH9 chr13 67383220 67384081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH9 chr13 67410826 67410875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9,PCDH9-AS2 chr13 67490800 67490839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67493371 68076868 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH9,PCDH9-AS3 chr13 67502711 67502743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr1 3675707 3712155 Gain and loss Pancreatic cancer SNP array 17952125 CCDC27,LRRC47,SMIM1 chr13 67725664 67725846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67725884 67725996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67761812 67763413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH9 chr13 67771297 67771397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH9 chr13 67773738 67775435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH9 chr13 67803471 67803746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH9 chr13 67834890 67835265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 36783544 38823237 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-273K arrays 21546498 C1orf109,C1orf122,CDCA8,CSF3R,DNALI1,EPHA10,FAM176B,FHL3,GNL2,GRIK3,INPP5B,LOC339442,LOC728431,LSM10,MANEAL,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,OSCP1,POU3F1,RSPO1,SF3A3,SH3D21,SNIP1,STK40,UTP11L,YRDC,ZC3H12A chr13 67875869 67876192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 67889169 67889333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 67889333 67889537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 67903314 67903472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 67903400 67903472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 67903459 67903602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 67903464 67903698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 67935619 67935719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3679501 3685500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC27 chr1 36796801 36830101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STK40 chr13 68002609 68636195 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 68106323 68106619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68110347 68146977 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 68116617 68116692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 68126705 68127183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68132474 68185003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 68138941 68163552 Gain Normal 244K array 17666407 NOT_FOUND chr13 68141572 68169971 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 68142704 68166750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 68146300 68162674 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 36814922 107047373 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,AGBL4,AGL,AK4,AK5,AKIRIN1,AKR1A1,ALG14,ALG6,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ARHGAP29,ARTN,ASB17,ATG4C,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSND,BTBD19,BTBD8,BTF3L4,C1orf109,C1orf122,C1orf123,C1orf141,C1orf146,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf210,C1orf228,C1orf50,C1orf52,C1orf87,C8A,C8B,CACHD1,CAP1,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC30,CDC14A,CDC20,CDC7,CDCA8,CDCP2,CDKN2C,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLDN19,CMPK1,CNN3,COL11A1,COL24A1,COL9A2,CPT2,CRYZ,CSF3R,CTBS,CTH,CTPS1,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DDAH1,DEM1,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,EBNA1BP2,ECHDC2,EDN2,EFCAB7,EIF2B3,ELAVL4,ELOVL1,ELTD1,EPHA10,EPHX4,EPS15,ERI3,ERMAP,EVI5,EXTL2,F3,FAAH,FAF1,FAM151A,FAM159A,FAM183A,FAM69A,FAM73A,FGGY,FHL3,FLJ27354,FLJ31662,FNBP1L,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA9,GJA9-MYCBP,GLIS1,GLMN,GNG12,GNG12-AS1,GNG5,GNL2,GPBP1L1,GPR88,GPX7,GRIK3,GTF2B,GUCA2A,GUCA2B,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HFM1,HHLA3,HIAT1,HIVEP3,HOOK1,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HYI,IFI44,IFI44L,IL12RB2,IL23R,INADL,INPP5B,INSL5,IPO13,IPP,ITGB3BP,JAK1,JUN,KANK4,KCNQ4,KDM4A,KDM4A-AS1,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIF2C,KLF17,KNCN,KTI12,L1TD1,LDLRAD1,LEPR,LEPRE1,LEPROT,LHX8,LINC00466,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100505768,LOC100507564,LOC100507634,LOC339442,LOC339524,LOC400752,LOC646626,LOC728431,LOC729041,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,MACF1,MAGOH,MANEAL,MAST2,MCOLN2,MCOLN3,MEAF6,MED8,MFSD2A,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR30C1,MIR30E,MIR3117,MIR3659,MIR3671,MIR4255,MIR4422,MIR4423,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MSH4,MTF1,MTF2,MUTYH,MYCBP,MYCL1,MYSM1,NASP,NDUFS5,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NRD1,NSUN4,NT5C1A,ODF2L,OLFM3,OMA1,ORC1,OSBPL9,OSCP1,OXCT2,PABPC4,PALMD,PARS2,PCSK9,PDE4B,PDZK1IP1,PDZK1IP1-AS1,PGM1,PIGK,PIK3R3,PIN1P1,PKN2,PLK3,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PRKAA2,PRKACB,PRPF38A,PTBP2,PTCH2,PTGER3,PTGFR,PTPRF,RAB3B,RABGGTB,RAD54L,RAVER2,RBMXL1,RHBDL2,RIMKLA,RIMS3,RLF,RNF11,RNF220,RNPC3,RNU6-6,ROR1,RPAP2,RPE65,RPF1,RPL5,RPS15AP10,RPS8,RRAGC,RSPO1,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SCMH1,SCP2,SELRC1,SEP15,SERBP1,SF3A3,SGIP1,SH3GLB1,SKINTL,SLC1A7,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORA66,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNX7,SPATA6,SRSF11,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,SYDE2,SZT2,TACSTD2,TAL1,TCEANC2,TCTEX1D1,TCTEX1D4,TESK2,TGFBR3,TIE1,TM2D1,TMCO2,TMED5,TMEM125,TMEM48,TMEM53,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM69,TNNI3K,TOE1,TRABD2B,TRIT1,TRMT13,TSPAN1,TTC22,TTC39A,TTC4,TTLL7,TXNDC12,TYW3,UBE2U,UOX,UQCRH,UROD,USP1,USP24,USP33,UTP11L,VCAM1,WDR63,WDR65,WDR78,WLS,YBX1,YIPF1,YRDC,ZC3H12A,ZCCHC11,ZFYVE9,ZMPSTE24,ZMYND12,ZNF326,ZNF642,ZNF643,ZNF644,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr13 68149479 68167285 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 68149638 68162674 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 68149969 68162674 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 68149981 68166243 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 68150996 68162674 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 68165939 68166212 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 68165939 68166212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68181509 68181577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 68181509 68181577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68181641 68181704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 68181641 68181704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68203807 68203907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68210268 68210368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68288607 68289681 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 36830000 39410000 Loss Breast cancer aCGH 21509527 C1orf109,C1orf122,CDCA8,CSF3R,DNALI1,EPHA10,FHL3,GJA9,GJA9-MYCBP,GNL2,GRIK3,INPP5B,LOC339442,LOC728431,LSM10,MANEAL,MEAF6,MIR3659,MIR4255,MIR5581,MRPS15,MTF1,MYCBP,OSCP1,POU3F1,RHBDL2,RRAGC,RSPO1,SF3A3,SNIP1,STK40,UTP11L,YRDC,ZC3H12A chr13 68303634 68303734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68340611 68340718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 68379603 68550579 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 68383246 68383346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68428544 68428644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68428545 114092980 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 68457191 68458197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68462058 68496748 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 68511936 68512019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68518654 68518754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68544936 69326471 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 3685501 3703000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC27,LRRC47,SMIM1 chr13 68556977 68557913 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr13 68562415 68756637 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr13 68573965 68574189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68597230 68597715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 68600000 115169878 Gain Basal cell lymphoma Array CGH 16317097 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CDC16,CHAMP1,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GAS6,GAS6-AS1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRK1,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00552,LINC00559,LINC00565,LMO7,LOC100506394,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RASA3,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TEX29,TEX30,TFDP1,TGDS,TM9SF2,TMCO3,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UPF3A,ZIC2,ZIC5 chr13 68600000 115169878 Gain Diffuse large b-cell lymphoma Array CGH 16317097 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CDC16,CHAMP1,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FAM70B,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GAS6,GAS6-AS1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRK1,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00552,LINC00559,LINC00565,LMO7,LOC100506394,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RASA3,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TEX29,TEX30,TFDP1,TGDS,TM9SF2,TMCO3,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,UPF3A,ZIC2,ZIC5 chr13 68600000 87700000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ATXN8OS,BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,KLHL1,LINC00331,LINC00333,LINC00347,LINC00348,LINC00351,LINC00381,LINC00439,LINC00446,LINC00550,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,PIBF1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK6,SPRY2,TBC1D4,UCHL3 chr13 68604651 68604751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68611259 68643623 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr13 68660334 68660394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68664020 68744760 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 3686644 3702928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC27,LRRC47,SMIM1 chr1 3686644 3702928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC27,LRRC47,SMIM1 chr13 68666293 68715654 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 68667070 68773267 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 36868034 36868074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 36868523 36869045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68772537 113042980 Deletion Esophageal cancer affymetrix genechip human mapping 278K Nsp arrays 21851588 A2LD1,ABCC4,ABHD13,ANKRD10,ARGLU1,ARHGEF7,ATXN8OS,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,DACH1,DAOA,DAOA-AS1,DCT,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,KLHL1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00348,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00550,LINC00551,LINC00559,LMO7,MBNL2,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,PIBF1,POU4F1,POU4F1-AS1,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 68841426 68907184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 68862901 68866900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 68864664 68864962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 68868279 68952379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 68880349 68880868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 68885140 68885240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3689239 3689533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMIM1 chr13 68927269 68927369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 68952623 68953262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 68977644 68977697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 36898381 36898481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSCP1 chr1 368993 369316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 69105871 69106086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 69118688 69118788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69140532 69140621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69149752 69149845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69172727 69580460 Deletion T-cell lymphomas Array-CGH 22341440 LINC00550 chr13 69172727 69580592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00550 chr13 69172727 69580592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00550 chr13 69172727 69580592 Gain and loss Pancreatic cancer SNP array 17952125 LINC00550 chr13 69172727 69580592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00550 chr13 69200579 69200679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3692119 3711366 Gain and loss Pancreatic cancer SNP array 17952125 LRRC47,SMIM1 chr13 69275073 69275172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 69275073 69275174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 69282965 69283065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69299968 69304789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 69299983 69305256 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 69342498 69342598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69357060 69357373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 36935707 37168937 Gain and loss Pancreatic cancer SNP array 17952125 CSF3R chr13 69366234 69367218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 69496879 69626412 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 69496879 70023128 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 36953732 37599763 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 GRIK3 chr13 69543927 69544027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69545399 69545499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69624107 69624207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69630300 69674512 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 69630300 69678457 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 69632622 69674512 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 69633729 69673449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 69634065 69670884 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 69634400 69673490 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 69635527 69674512 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 69635527 69678457 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 69640317 69670884 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 69642526 69670395 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr13 69670582 69670765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69670665 69670760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69707220 69849267 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 69713483 69758210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 69735960 69875736 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr13 69737794 71492558 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-987K arrays 21546498 ATXN8OS,KLHL1 chr13 69759675 69759999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 69782266 69782366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69797760 69849634 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 69808874 69808944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69812790 70766166 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ATXN8OS,KLHL1 chr13 69821976 69822076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69841384 70698111 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ATXN8OS,KLHL1 chr13 69845453 71972490 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATXN8OS,KLHL1,LINC00348 chr13 69908312 69908344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69931597 69931680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 69931597 69931699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 69931597 69931703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 69932095 69932195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69942893 69942993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 69953715 69963372 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 70018263 70018363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 70021961 70022510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 70095836 70098048 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 70095836 70098048 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr13 70095948 70097993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 70110505 70517021 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KLHL1 chr13 70113898 70113998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 70167133 70167233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37018779 37018843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37024773 37123408 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 70271599 70316874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLHL1 chr13 70274724 70682624 Deletion Prostate cancer aCGH 22341455 ATXN8OS,KLHL1 chr1 3703001 3763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP104,LRRC47 chr13 70314510 70328586 Loss Normal Birdsuite, version 1.5.2 22087296 KLHL1 chr13 70381630 70381730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL1 chr13 70381954 70382037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL1 chr1 37039201 37272431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIK3 chr1 37039201 37272431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK3 chr1 37039201 37272431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK3 chr13 70395797 70396588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL1 chr13 70415095 70460603 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 KLHL1 chr13 70452220 70452319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL1 chr13 70524629 70524729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL1 chr13 705821 83679489 Duplication Intellectual disability Array CGH 22102821 AKAP11,ALG11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ARL11,ATP12A,ATP5EP2,ATP7B,ATP8A2,ATXN8OS,B3GALTL,BASP1P1,BORA,BRCA2,BTF3P11,C13orf45,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CAB39L,CCDC122,CCDC169,CCDC169-SOHLH2,CCDC70,CCNA1,CDADC1,CDK8,CDX2,CENPJ,CKAP2,CLN5,COG3,COG6,COMMD6,CPB2,CPB2-AS1,CRYL1,CSNK1A1L,CTAGE10P,CTAGE11P,CYSLTR2,DACH1,DCLK1,DGKH,DHRS12,DIAPH3,DIAPH3-AS1,DIAPH3-AS2,DIS3,DLEU1,DLEU2,DLEU7,DLEU7-AS1,DNAJC15,EBPL,EDNRB,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,ESD,EXOSC8,FAM123A,FAM124A,FAM194B,FAM216B,FAM48A,FBXL3,FGF9,FLT1,FLT3,FNDC3A,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,GUCY1B2,HMGB1,HNRNPA1L2,HSPH1,HTR2A,IFT88,IL17D,INTS6,IRG1,ITM2B,KATNAL1,KBTBD6,KBTBD7,KCNRG,KCTD12,KCTD4,KIAA0226L,KIAA1704,KL,KLF12,KLF5,KLHL1,KPNA3,LACC1,LATS2,LCP1,LECT1,LHFP,LINC00282,LINC00284,LINC00297,LINC00327,LINC00330,LINC00331,LINC00332,LINC00347,LINC00348,LINC00366,LINC00381,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00439,LINC00441,LINC00442,LINC00446,LINC00457,LINC00462,LINC00544,LINC00547,LINC00548,LINC00550,LINC00558,LINC00563,LINC00571,LINC00598,LMO7,LNX2,LPAR6,LRCH1,MAB21L1,MED4,MED4-AS1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR1297,MIR15A,MIR16-1,MIR2276,MIR3169,MIR320D1,MIR3613,MIR3665,MIR4305,MIR4499,MIR4703,MIR5006,MIR5007,MIR548F5,MIR5693,MIR621,MIR759,MLNR,MPHOSPH8,MRP63,MRPS31,MRPS31P3,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,MYCBP2,MYCBP2-AS1,MZT1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NDFIP2,NDFIP2-AS1,NEK3,NEK5,NHLRC3,NUDT15,NUFIP1,NUPL1,OLFM4,OR7E156P,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PCDH17,PCDH20,PCDH8,PCDH9,PCDH9-AS2,PCDH9-AS3,PDS5B,PDX1,PHF11,PIBF1,POLR1D,POMP,POSTN,POU4F1,POU4F1-AS1,PRHOXNB,PROSER1,PRR20A,PRR20B,PRR20C,PRR20D,PRR20E,PSPC1,RASL11A,RB1,RBM26,RBM26-AS1,RCBTB1,RCBTB2,RFC3,RFXAP,RGCC,RNASEH2B,RNASEH2B-AS1,RNF17,RNF219,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SCEL,SERP2,SERPINE3,SERTM1,SETDB2,SGCG,SHISA2,SIAH3,SKA3,SLAIN1,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,SPRY2,SPRYD7,ST13P4,STARD13,STARD13-AS2,STOML3,SUCLA2,SUGT1,SUGT1P3,TBC1D4,TDRD3,TEX26,TEX26-AS1,THSD1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P3,TPTE2P5,TPTE2P6,TRIM13,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UCHL3,UFM1,USP12,USPL1,UTP14C,VPS36,VWA8,VWA8-AS1,WASF3,WBP4,WDFY2,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 70656218 70656331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL1 chr13 70666491 71594524 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 ATXN8OS,KLHL1,LINC00348 chr13 70687886 70688439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATXN8OS chr13 70763924 70764024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 70768343 70769368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 70797042 70797142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 70810514 70815227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 70813240 70813320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37090992 37091092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 70910098 71339331 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 70910098 71339331 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 70910099 71339331 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 70910099 71339331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 70910099 71339331 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 70910099 71339331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 70913857 70913895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 70923475 70923572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 70936832 71339331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 71000000 83000000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,LINC00331,LINC00347,LINC00348,LINC00381,LINC00439,LINC00446,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,PIBF1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SPRY2,TBC1D4,UCHL3 chr1 371000 9971000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CLSTN1,CPSF3L,CTNNBIP1,DFFB,DNAJC11,DVL1,ENO1,ENO1-AS1,ERRFI1,ESPN,FAM132A,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,PANK4,PARK7,PER3,PEX10,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RERE,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SPSB1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UTS2,VAMP3,VWA1,WRAP73,ZBTB48 chr13 71009564 71009664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37104495 37117303 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 71056913 71057013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71142180 71142406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71142289 71142389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71143687 71143766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71147200 71147602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 71176322 71176781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 71206551 71206565 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr1 37121111 37165744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 71226326 71383406 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 71246443 71246543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71318114 71318450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 71320260 71365489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 71336840 71336940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71340199 71379689 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 71340641 71340731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71373301 71380600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 71375265 71378579 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 71375266 71378577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 71375556 71378557 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 71375556 71378557 Deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 NOT_FOUND chr13 71375556 71378557 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 71375883 71375966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71385879 71386317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 71391678 71391778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71450227 71450345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 71450227 71450345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 71450236 71450347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 71480171 71480261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71492558 77988270 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-988K arrays 21546498 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIS3,FBXL3,IRG1,KCTD12,KLF12,KLF5,LINC00347,LINC00348,LINC00381,LMO7,MYCBP2,MYCBP2-AS1,MZT1,PIBF1,TBC1D4,UCHL3 chr13 71550422 73093717 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DACH1,LINC00348 chr13 71570485 71570585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71619018 71663443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00348 chr13 71700235 71747979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00348 chr13 71703601 71712300 Deletion Glioma mate-paired sequence 20126413 LINC00348 chr13 71705611 71710584 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LINC00348 chr13 71705623 71710360 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LINC00348 chr13 71705624 71710354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00348 chr13 71706048 71720770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00348 chr13 71706283 71710359 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LINC00348 chr13 71706691 71706771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00348 chr13 71726429 71772953 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00348 chr13 71740652 71744933 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LINC00348 chr13 71741039 71744916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00348 chr13 71743783 71744892 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 37178907 37179057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71853116 71853216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71854708 71855020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 71854712 71855021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 71905063 71905163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37192501 37199000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 71926041 71926106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 71932273 71932468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37194190 41763150 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKIRIN1,BMP8A,BMP8B,C1orf109,C1orf122,CAP1,CDCA8,CITED4,COL9A2,CTPS1,DEM1,DNALI1,EPHA10,FHL3,GJA9,GJA9-MYCBP,GNL2,GRIK3,HEYL,HPCAL4,INPP5B,KCNQ4,KIAA0754,LOC100130557,LOC339442,LOC728431,MACF1,MANEAL,MEAF6,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MTF1,MYCBP,MYCL1,NDUFS5,NFYC,NT5C1A,OXCT2,PABPC4,POU3F1,PPIE,PPIEL,PPT1,RHBDL2,RIMS3,RLF,RRAGC,RSPO1,SCMH1,SF3A3,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,TMCO2,TRIT1,UTP11L,YRDC,ZC3H12A,ZMPSTE24,ZNF642,ZNF643,ZNF684 chr13 71948898 71948930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 71971877 71971977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37199001 37712000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRIK3,MIR4255 chr1 3719941 3736225 Gain and loss Pancreatic cancer SNP array 17952125 CEP104 chr13 72012097 72441329 Deletion Prostate cancer aCGH 22341455 DACH1 chr13 72039692 72039792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DACH1 chr13 72056009 72433387 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DACH1 chr13 72058819 72058948 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72058819 72058949 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72058819 72058949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72092816 72122508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DACH1 chr13 72098690 72098790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DACH1 chr13 72100000 114142980 Gain Glioblastoma multiforme conventional CGH 21080181 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,BIVM,BIVM-ERCC5,BORA,BTF3P11,C13orf35,C13orf45,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLN5,CLYBL,COL4A1,COL4A2,COL4A2-AS1,COMMD6,CTAGE11P,CUL4A,DACH1,DAOA,DAOA-AS1,DCT,DCUN1D2,DIS3,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FBXL3,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRG1,IRS2,ITGBL1,KCTD12,KDELC1,KLF12,KLF5,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00347,LINC00351,LINC00353,LINC00359,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00551,LINC00559,LMO7,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,MYO16,MYO16-AS1,MZT1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PIBF1,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TBC1D4,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 72100000 74200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BORA,DACH1,DIS3,KLF5,MZT1,PIBF1 chr13 72100000 74200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BORA,DACH1,DIS3,KLF5,MZT1,PIBF1 chr13 72100000 77800000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIS3,FBXL3,IRG1,KCTD12,KLF12,KLF5,LINC00347,LINC00381,LMO7,MYCBP2,MYCBP2-AS1,MZT1,PIBF1,TBC1D4,UCHL3 chr13 72100000 93800000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DACH1,DIS3,EDNRB,FBXL3,GPC5,GPC5-AS1,IRG1,KCTD12,KLF12,KLF5,LINC00331,LINC00333,LINC00347,LINC00351,LINC00353,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,LMO7,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3665,MIR4500,MIR4500HG,MIR622,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,PIBF1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,TBC1D4,UCHL3 chr1 3721204 3763657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP104 chr1 3721204 3763657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP104 chr1 37215649 37215791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 72175832 72176277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72178156 72178262 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72178156 72178262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72180496 72199826 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DACH1 chr13 72180496 72199826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72180496 72199826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72180507 72199938 Deletion T-cell lymphomas Array-CGH 22341440 DACH1 chr13 72199982 72228329 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DACH1 chr13 72199982 72228329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72199982 72228329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72200043 72228329 Deletion T-cell lymphomas Array-CGH 22341440 DACH1 chr13 72200077 72360468 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72215194 72215287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DACH1 chr13 72222020 72222406 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DACH1 chr13 72222020 72222406 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72227543 72254007 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DACH1 chr13 72227543 72254007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72227543 72254007 Deletion T-cell lymphomas Array-CGH 22341440 DACH1 chr13 72227543 72254007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72227543 72254064 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72254230 72488592 Duplication or deletion Attention deficit hyperactivity disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 DACH1 chr13 72254230 72488592 Duplication or deletion Chronic motor tic disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 DACH1 chr13 72254230 72488592 Duplication or deletion Schizophrenia FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 DACH1 chr13 72254231 72488593 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DACH1 chr13 72254231 72488593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72254231 72488593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72254238 72488592 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72255609 72488058 Deletion T-cell lymphomas Array-CGH 22341440 DACH1 chr13 72274253 72305016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DACH1 chr1 37232152 37232242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 72323227 72323308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72334662 72334762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DACH1 chr13 72343017 72343117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DACH1 chr13 72347728 72347828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DACH1 chr13 72353247 72353353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACH1 chr13 72353250 72353353 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72353257 72353353 Gain and loss Pancreatic cancer SNP array 17952125 DACH1 chr13 72508540 72508987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72527114 72549677 Loss Prostate cancer Array CGH 16573809 NOT_FOUND chr13 72528937 72770614 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 NOT_FOUND chr13 72529868 72534099 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 72530931 72549654 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 72530931 72549654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72530931 72549654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72530931 72549670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 72531156 72549677 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 72534137 72746128 Gain Bladder cancer array-CGH 21909424 NOT_FOUND chr13 72547959 72548059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 72572717 72573124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72572717 72573124 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 72572717 72573124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72583695 73093717 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 72585053 72585156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72585057 72585156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 72585058 72585156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 72603537 72603637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 72619885 72622478 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 72663666 72663805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 72663666 72663805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72663666 72663808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 72682304 72682404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 72699285 72699396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 72699285 72699398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72858813 74620168 Deletion Glioblastoma multiforme 244K oligo array 21138945 BORA,DIS3,KLF12,KLF5,MZT1,PIBF1 chr13 72879906 72880490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72879906 72880490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 72972913 72973240 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 72993593 72993693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37299377 46399290 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AKIRIN1,AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BMP8A,BMP8B,BTBD19,C1orf109,C1orf122,C1orf210,C1orf228,C1orf50,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CDCA8,CITED4,CLDN19,COL9A2,CTPS1,DEM1,DMAP1,DNALI1,DPH2,EBNA1BP2,EDN2,EIF2B3,ELOVL1,EPHA10,ERI3,ERMAP,FAM183A,FHL3,FOXJ3,GJA9,GJA9-MYCBP,GNL2,GPBP1L1,GRIK3,GUCA2A,GUCA2B,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HYI,INPP5B,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0754,KIF2C,KLF17,LEPRE1,LOC100129924,LOC100130557,LOC339442,LOC400752,LOC728431,MACF1,MANEAL,MAST2,MEAF6,MED8,MFSD2A,MIR30C1,MIR30E,MIR3659,MIR4255,MIR5581,MIR5584,MMACHC,MPL,MTF1,MUTYH,MYCBP,MYCL1,NASP,NDUFS5,NFYC,NT5C1A,OXCT2,PABPC4,PLK3,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PTCH2,PTPRF,RHBDL2,RIMKLA,RIMS3,RLF,RNF220,RPS15AP10,RPS8,RRAGC,RSPO1,SCMH1,SF3A3,SLC2A1,SLC2A1-AS1,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNIP1,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,SZT2,TCTEX1D4,TESK2,TIE1,TMCO2,TMEM125,TMEM53,TMEM69,TOE1,TRIT1,UROD,UTP11L,WDR65,YBX1,YRDC,ZC3H12A,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5 chr13 72994998 72995072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 73062675 73062707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 73108480 73108570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 73123219 73124219 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 73151222 73151322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 73158150 73606043 Deletion T-cell lymphomas Array-CGH 22341440 BORA,DIS3,MZT1,PIBF1 chr13 73158150 73606043 Gain and loss Pancreatic cancer SNP array 17952125 BORA,DIS3,MZT1,PIBF1 chr13 73158151 73606067 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BORA,DIS3,MZT1,PIBF1 chr13 73158151 73606067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BORA,DIS3,MZT1,PIBF1 chr13 73158151 73606067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BORA,DIS3,MZT1,PIBF1 chr13 73160881 93888882 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DIS3,EDNRB,FBXL3,GPC5,GPC5-AS1,GPC6,IRG1,KCTD12,KLF12,KLF5,LINC00331,LINC00333,LINC00347,LINC00351,LINC00353,LINC00379,LINC00381,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,LMO7,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3665,MIR4500,MIR4500HG,MIR622,MIR92A1,MYCBP2,MYCBP2-AS1,MZT1,NDFIP2,NDFIP2-AS1,PIBF1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,TBC1D4,UCHL3 chr13 73187939 73219535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 73213729 73213829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 73238671 73238771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 73241529 74602834 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BORA,DIS3,KLF12,KLF5,MZT1,PIBF1 chr1 37325531 37370650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRIK3 chr13 73281632 73281684 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 73282494 73301937 Deletion Prostate cancer aCGH 22341455 MZT1 chr13 73284100 73672800 Loss Prostate cancer Array CGH 18632612 BORA,DIS3,KLF5,MZT1,PIBF1 chr13 73296949 73297221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MZT1 chr13 73300000 77200000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 BORA,C13orf45,COMMD6,CTAGE11P,DIS3,KLF12,KLF5,LINC00347,LINC00381,LMO7,MZT1,PIBF1,TBC1D4,UCHL3 chr13 73300000 79000000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,LINC00347,LINC00381,LINC00439,LINC00446,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,PIBF1,POU4F1-AS1,SCEL,SLAIN1,TBC1D4,UCHL3 chr13 73300000 79000000 Deletion Non-small cell lung cancer FISH 19010865 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,LINC00347,LINC00381,LINC00439,LINC00446,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,PIBF1,POU4F1-AS1,SCEL,SLAIN1,TBC1D4,UCHL3 chr13 73300000 79000000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,LINC00347,LINC00381,LINC00439,LINC00446,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,PIBF1,POU4F1-AS1,SCEL,SLAIN1,TBC1D4,UCHL3 chr13 73300000 79000000 Gain Basal cell lymphoma CGH 17170743 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,LINC00347,LINC00381,LINC00439,LINC00446,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,PIBF1,POU4F1-AS1,SCEL,SLAIN1,TBC1D4,UCHL3 chr13 73300000 79000000 Gain Follicular lymphoma CGH 17170743 BORA,BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,DIS3,EDNRB,FBXL3,IRG1,KCTD12,KLF12,KLF5,LINC00347,LINC00381,LINC00439,LINC00446,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,MZT1,PIBF1,POU4F1-AS1,SCEL,SLAIN1,TBC1D4,UCHL3 chr13 73302041 73330327 Deletion Prostate cancer aCGH 22341455 BORA,DIS3 chr13 73329539 73356343 Deletion Prostate cancer aCGH 22341455 BORA,DIS3,PIBF1 chr13 73331794 73556172 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-868K arrays 21546498 DIS3,PIBF1 chr13 73343440 73343540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIS3 chr13 73356229 73590591 Deletion Prostate cancer aCGH 22341455 DIS3,PIBF1 chr1 37338304 37338410 Gain and loss Pancreatic cancer SNP array 17952125 GRIK3 chr1 37353610 37353709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK3 chr13 73576464 73595857 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PIBF1 chr1 37362445 37396097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRIK3 chr13 73633141 73651675 Deletion Prostate cancer aCGH 22341455 KLF5 chr13 73761238 73761352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 73761240 73761352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 73849301 73850089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 3738797 3738868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CEP104 chr13 73885095 73891253 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 73885095 73891253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 73885095 73891253 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 73885095 73891253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 73898234 73904504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 73964460 73964693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37399392 37399480 Gain and loss Pancreatic cancer SNP array 17952125 GRIK3 chr13 74010583 74010677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 74042571 74043606 Deletion small cell lung cancer array-CGH 20016488 NOT_FOUND chr13 74054816 74327204 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 KLF12 chr13 74102052 74275589 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KLF12 chr13 74105897 74122987 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 74117736 74119368 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 74190708 74704975 LOH Normal High-resolution SNP genotyping 21211785 KLF12 chr13 74200000 76000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CTAGE11P,KLF12,LINC00347,LINC00381,TBC1D4 chr13 74200000 76000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CTAGE11P,KLF12,LINC00347,LINC00381,TBC1D4 chr13 74200000 76000000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 CTAGE11P,KLF12,LINC00347,LINC00381,TBC1D4 chr13 74243195 74243295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 74260148 74708065 Deletion Prostate cancer aCGH 22341455 KLF12 chr13 74291176 74602834 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KLF12 chr13 74300691 74302218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLF12 chr13 74327205 74474851 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 KLF12 chr13 74356169 74356269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF12 chr1 37441798 37441904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK3 chr13 74423670 74423770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF12 chr13 74431687 78398209 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-949K arrays 21546498 BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,FBXL3,IRG1,KCTD12,KLF12,LINC00347,LINC00381,LMO7,MIR3665,MYCBP2,MYCBP2-AS1,SCEL,SLAIN1,TBC1D4,UCHL3 chr13 74451849 74452169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLF12 chr13 74458301 74461700 Deletion Glioma mate-paired sequence 20126413 KLF12 chr13 74498619 74498651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF12 chr13 74523201 74523278 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLF12 chr13 74562077 74563077 Loss Osteosarcoma References 21215367 KLF12 chr13 74581725 74581831 Gain and loss Pancreatic cancer SNP array 17952125 KLF12 chr13 74581725 74581831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLF12 chr13 74608292 74609078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLF12 chr13 74622447 74622547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF12 chr13 74710076 74712477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 74710239 74712477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 74725315 75274475 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00347,LINC00381 chr1 37475216 37485566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRIK3 chr13 74756810 74954251 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 74756810 74954251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 74756810 74954251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 74757254 74953904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 74758929 74986741 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 74823605 74823705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 74830642 75710920 LOH Normal High-resolution SNP genotyping 21211785 LINC00347,LINC00381 chr13 74997351 75010939 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00381 chr13 74997356 75010939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00381 chr13 74997356 75010939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00381 chr13 74998093 74998152 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 LINC00381 chr13 74998120 75009987 Deletion T-cell lymphomas Array-CGH 22341440 LINC00381 chr13 74998122 74998286 Loss Normal 244K array 17666407 LINC00381 chr13 74998575 75009952 Gain and loss Pancreatic cancer SNP array 17952125 LINC00381 chr13 75003040 75005879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00381 chr13 75003906 75007929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00381 chr13 75013990 75148577 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 LINC00347 chr13 75014378 75037955 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 75021927 75078069 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 75021927 75078069 Gain or loss Cancer - 20668451 NOT_FOUND chr13 75021927 75078069 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 75021927 75078069 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 75021927 75078069 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 75021927 75078069 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 75021928 75078067 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 75021928 75078067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 75021928 75078067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 75021928 75078067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 75021928 75078070 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 75024495 75024590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37502886 37502974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 75036084 75036189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 75036084 75036189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 75036100 75036189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 75060881 78049238 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,FBXL3,IRG1,KCTD12,LINC00347,LMO7,MYCBP2,MYCBP2-AS1,TBC1D4,UCHL3 chr13 75092570 75332003 Gain or loss Breast cancer - 20668451 LINC00347 chr13 75092570 75332003 Gain or loss Cancer - 20668451 LINC00347 chr13 75092570 75332003 Gain or loss Lung cancer - 20668451 LINC00347 chr13 75092570 75332003 Gain or loss Ovarian cancer - 20668451 LINC00347 chr13 75092570 75332003 Gain or loss Pancreas cancer - 20668451 LINC00347 chr13 75092570 75332003 Gain or loss Prostate cancer - 20668451 LINC00347 chr13 75092571 75332003 Deletion T-cell lymphomas Array-CGH 22341440 LINC00347 chr13 75092571 75343063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00347 chr13 75092571 75343063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00347 chr13 75092571 75343063 Gain and loss Pancreatic cancer SNP array 17952125 LINC00347 chr13 75092571 75343063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00347 chr13 75095384 75095972 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 75095384 75095972 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr13 75130117 75130185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00347 chr13 75150469 75150569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 75151355 75192888 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 75160693 75161334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 75180393 75225907 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 3751810 3796935 Gain and loss Pancreatic cancer SNP array 17952125 CEP104,DFFB chr13 75219611 75401535 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 75219611 75440004 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 75243723 75243723 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 75307740 75307840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 75343188 75355948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 75343188 75355948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 75343264 75355239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 75400000 95000000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 BTF3P11,C13orf45,CLN5,COMMD6,CTAGE11P,EDNRB,FBXL3,GPC5,GPC5-AS1,GPC6,GPC6-AS2,IRG1,KCTD12,LINC00331,LINC00333,LINC00351,LINC00353,LINC00379,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,LMO7,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3665,MIR4500,MIR4500HG,MIR622,MIR92A1,MYCBP2,MYCBP2-AS1,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2,TBC1D4,UCHL3 chr13 75404806 75979084 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTAGE11P,TBC1D4 chr13 75408142 75408242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 75435980 75436080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 75506864 75510758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 75509750 75510848 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 75537247 75537573 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 75537275 75537601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 75579164 75579264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 75607068 75607347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 75607068 75607347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 75607068 75607378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 3756302 6867390 Deletion Cancer Affymetrix 250K Sty array 20164920 ACOT7,AJAP1,C1orf174,CAMTA1,CEP104,CHD5,DFFB,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,LOC100133612,LOC284661,LOC728716,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr13 75766479 75766543 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 75858808 76056249 Deletion Prostate cancer aCGH 22341455 TBC1D4 chr1 37589059 37589297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 75910735 75910785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D4 chr13 75916126 77658042 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BTF3P11,C13orf45,CLN5,COMMD6,FBXL3,IRG1,KCTD12,LMO7,MYCBP2,MYCBP2-AS1,TBC1D4,UCHL3 chr13 75931764 75931864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D4 chr13 75931920 101410238 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1017K arrays 21546498 A2LD1,ABCC4,BTF3P11,C13orf45,CLDN10,CLDN10-AS1,CLN5,CLYBL,COMMD6,DCT,DNAJC3,DOCK9,DZIP1,EDNRB,FARP1,FBXL3,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,IRG1,KCTD12,LINC00331,LINC00333,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,LMO7,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR548AN,MIR622,MIR623,MIR92A1,MYCBP2,MYCBP2-AS1,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,POU4F1,POU4F1-AS1,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TBC1D4,TGDS,TM9SF2,TMTC4,UBAC2,UBAC2-AS1,UCHL3,UGGT2,ZIC2,ZIC5 chr13 75935829 75935906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D4 chr13 75936199 75936299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D4 chr1 37594426 37594486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 75952238 75952373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D4 chr13 76000000 77800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BTF3P11,C13orf45,CLN5,COMMD6,FBXL3,IRG1,KCTD12,LMO7,MYCBP2,MYCBP2-AS1,TBC1D4,UCHL3 chr1 37600637 37600736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 76010853 76010953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D4 chr1 37609246 37619069 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 76099349 76111990 Deletion Prostate cancer aCGH 22341455 COMMD6 chr13 76099453 76099513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COMMD6 chr13 76104960 76105060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COMMD6 chr13 76123926 76180068 Deletion Prostate cancer aCGH 22341455 UCHL3 chr1 37617828 37637718 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MIR4255 chr13 76194569 76434005 Deletion Prostate cancer aCGH 22341455 LMO7 chr13 76195105 76195205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMO7 chr1 37624411 37624622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 76260578 76260660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMO7 chr13 76268793 76268837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMO7 chr1 37627269 37649457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 76279939 76280056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMO7 chr1 3763001 3816500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf174,CEP104,DFFB chr13 76321836 76321936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMO7 chr13 76334448 76334548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMO7 chr13 76347343 76347427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMO7 chr13 76352313 76358526 Deletion T-cell lymphomas Array-CGH 22341440 LMO7 chr13 76352313 76358541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LMO7 chr13 76352313 76358541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMO7 chr13 76352313 76358541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMO7 chr13 76353989 76358541 Gain and loss Pancreatic cancer SNP array 17952125 LMO7 chr13 76356680 76901950 LOH Normal High-resolution SNP genotyping 21211785 C13orf45,LMO7 chr13 76357001 76359000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LMO7 chr1 3763705 3791853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP104,DFFB chr1 3763705 3791853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP104,DFFB chr13 76382668 77554997 LOH Normal High-resolution SNP genotyping 21211785 BTF3P11,C13orf45,IRG1,KCTD12,LMO7 chr13 76400201 76400836 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LMO7 chr13 76400201 76400836 Gain and loss Pancreatic cancer SNP array 17952125 LMO7 chr13 76400201 76400836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMO7 chr13 76420633 76430778 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LMO7 chr13 76420633 76430778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMO7 chr13 76420633 76430778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMO7 chr13 76424619 76430109 Gain and loss Pancreatic cancer SNP array 17952125 LMO7 chr13 76428116 76432418 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LMO7 chr13 76431915 76439543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMO7 chr13 76445792 77151328 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C13orf45 chr13 76453311 76454052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C13orf45 chr13 76457004 76462725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C13orf45 chr13 76462796 76474652 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 76462796 76474652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 76462796 76474652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 76462796 76474653 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 76462796 76474653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 76477391 76499286 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 76477391 76499286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 76477391 76499286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 76477397 76499258 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 76477397 76499282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 76516793 76799178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 76516793 76799178 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 76516793 76799178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 76516794 76799180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 76516794 76799180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 76523033 76666465 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 76533712 76533812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37671230 37688984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 76726036 76758075 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 76772706 76773706 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 76823460 76823560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 76835652 76879866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 76854108 77117391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 76902967 76903067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37690941 37691195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 37691613 37701550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 37692972 37693004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 77007860 77116642 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 77007860 77116642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77007860 77116642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77007860 77116645 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 37701511 37730615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 77038126 77038226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 77076546 77076846 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 77095508 77095606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 77095508 77095608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77097904 77098904 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 37712001 37724000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 37712740 37722563 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 37712753 37722563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37712753 37722563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77131549 77131800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77132001 77133500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 77133434 77134537 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 77133434 77134537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77133539 77134537 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 377 167280 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11L1,FAM138A,FAM138F,LOC729737,OR4F5,WASH7P chr13 77170050 77236378 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 77170050 77236378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77170050 77236378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77191734 77236363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 77199514 77199614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 77213490 77251040 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 77230591 77230661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 77241164 77544243 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BTF3P11,IRG1,KCTD12 chr1 37724502 37752962 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 37724502 37752962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37727905 37728116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77305571 77305671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 77353961 77357650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 77356089 77356178 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 77367616 77447665 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 77367616 77447665 Gain or loss Cancer - 20668451 NOT_FOUND chr13 77367616 77447665 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 77367616 77447665 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 77367616 77447665 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 77367616 77447665 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 77367617 77390934 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 77367617 77391904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 77367625 77391751 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 77367625 77391751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77367625 77391751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77399458 77399558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 77419629 77419908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77419640 77419908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 77419640 77419908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77454303 77460539 Deletion Prostate cancer aCGH 22341455 KCTD12 chr1 37746044 37769430 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 77492152 77492475 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 77511984 77554602 Deletion Prostate cancer aCGH 22341455 IRG1 chr13 77541183 77738162 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLN5,FBXL3,MYCBP2,MYCBP2-AS1 chr13 77563727 77581510 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CLN5,FBXL3 chr13 77566058 77576651 Deletion Prostate cancer aCGH 22341455 CLN5 chr13 77579388 77601330 Deletion Prostate cancer aCGH 22341455 FBXL3 chr13 77592594 77592694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXL3 chr13 77599839 77599939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXL3 chr13 77618791 77901176 Deletion Prostate cancer aCGH 22341455 MYCBP2,MYCBP2-AS1 chr13 77647429 77647529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYCBP2 chr13 77652103 77697848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYCBP2,MYCBP2-AS1 chr13 77662970 77665837 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYCBP2 chr1 377 682895 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11L1,FAM138A,FAM138F,LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P chr13 77723522 78819049 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EDNRB,LINC00439,LINC00446,MIR3665,MYCBP2,POU4F1-AS1,SCEL,SLAIN1 chr13 77745635 77779835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYCBP2 chr1 37774732 37792490 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 37774732 37792490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37774732 37792490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77759537 77784003 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYCBP2 chr13 77791250 77826200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYCBP2 chr13 77791634 77791734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYCBP2 chr13 77797230 77797330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYCBP2 chr13 77800000 100500000 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 ABCC4,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,EDNRB,FARP1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,LINC00331,LINC00333,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR548AN,MIR622,MIR623,MIR92A1,MYCBP2,NDFIP2,NDFIP2-AS1,OXGR1,POU4F1,POU4F1-AS1,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TGDS,TM9SF2,UBAC2,UBAC2-AS1,UGGT2 chr13 77800000 114142980 Gain Breast cancer array-CGH 22032731 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCT,DCUN1D2,DNAJC3,DOCK9,DZIP1,EDNRB,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00439,LINC00443,LINC00446,LINC00460,LINC00551,LINC00559,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYCBP2,MYO16,MYO16-AS1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 77800000 86500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 EDNRB,LINC00331,LINC00333,LINC00351,LINC00439,LINC00446,MIR3665,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK6,SPRY2 chr13 77800000 86500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 EDNRB,LINC00331,LINC00333,LINC00351,LINC00439,LINC00446,MIR3665,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK6,SPRY2 chr13 77800000 86500000 Gain Barrett's adenocarcinoma FISH 18663352 EDNRB,LINC00331,LINC00333,LINC00351,LINC00439,LINC00446,MIR3665,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK6,SPRY2 chr13 77800000 86500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 EDNRB,LINC00331,LINC00333,LINC00351,LINC00439,LINC00446,MIR3665,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK6,SPRY2 chr13 77800000 86500000 Loss Urothelial cell carcinoma FISH 18451213 EDNRB,LINC00331,LINC00333,LINC00351,LINC00439,LINC00446,MIR3665,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK6,SPRY2 chr13 77800000 86500000 Translocation Developmental delay FISH 19490664 EDNRB,LINC00331,LINC00333,LINC00351,LINC00439,LINC00446,MIR3665,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK6,SPRY2 chr13 77800000 86500000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 EDNRB,LINC00331,LINC00333,LINC00351,LINC00439,LINC00446,MIR3665,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK6,SPRY2 chr13 77800000 93800000 Gain Cancer array-based techniques 21183584 EDNRB,GPC5,GPC5-AS1,LINC00331,LINC00333,LINC00351,LINC00353,LINC00379,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3665,MIR4500,MIR4500HG,MIR622,MIR92A1,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2 chr13 77800000 93800000 Loss Glioblastoma multiforme conventional CGH 21080181 EDNRB,GPC5,GPC5-AS1,LINC00331,LINC00333,LINC00351,LINC00353,LINC00379,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3665,MIR4500,MIR4500HG,MIR622,MIR92A1,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SPRY2 chr13 77800000 97000000 Loss Glioblastoma multiforme aCGH 21080181 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,EDNRB,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR180,HS6ST3,LINC00331,LINC00333,LINC00351,LINC00353,LINC00379,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3665,MIR4500,MIR4500HG,MIR622,MIR92A1,MYCBP2,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,TGDS,UGGT2 chr13 77800000 98100000 Deletion or duplication Omodysplasia Array comparative genomic hybridization 19481194 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,EDNRB,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR180,HS6ST3,LINC00331,LINC00333,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3665,MIR4500,MIR4500HG,MIR622,MIR92A1,MYCBP2,NDFIP2,NDFIP2-AS1,OXGR1,POU4F1,POU4F1-AS1,RAP2A,RBM26,RBM26-AS1,RNF219,SCEL,SLAIN1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,TGDS,UGGT2 chr13 77827363 77827464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYCBP2 chr13 77827365 77827464 Gain and loss Pancreatic cancer SNP array 17952125 MYCBP2 chr13 77827367 77827464 Gain and loss Pancreatic cancer SNP array 17952125 MYCBP2 chr1 37782951 37783482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37782951 37783482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 377 852347 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 DDX11L1,FAM138A,FAM138F,FAM41C,LINC00115,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC643837,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P chr1 377 852347 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11L1,FAM138A,FAM138F,FAM41C,LINC00115,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC643837,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P chr13 77894959 77895328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYCBP2 chr13 77895611 77896724 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYCBP2 chr1 37790158 37790258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 77912491 77917728 Deletion Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V7 BeadChip 22016809 NOT_FOUND chr1 37794435 37794689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77948929 77949029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37795107 37805044 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 37795107 37805044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37795107 37805044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77959707 77960707 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 77960318 77960649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 77973420 78566321 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 EDNRB,LINC00439,MIR3665,SCEL,SLAIN1 chr13 77988270 103324143 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-989K arrays 21546498 A2LD1,ABCC4,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,EDNRB,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,ITGBL1,LINC00331,LINC00333,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00439,LINC00446,LINC00559,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR3665,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR622,MIR623,MIR92A1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,POU4F1,POU4F1-AS1,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SCEL,SLAIN1,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TGDS,TM9SF2,TMTC4,TPP2,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 78048721 78081316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 37805017 37834109 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 37805017 37834109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 78053260 78053292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 78068001 78082000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 78071232 78075696 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr13 78071237 78075696 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 78071237 78075696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 78071237 78075696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 78071237 78075696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 78086422 78131315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SCEL chr13 78086422 78131315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCEL chr13 78086422 78131315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCEL chr13 78086430 78131315 Deletion T-cell lymphomas Array-CGH 22341440 SCEL chr13 78086431 78131315 Gain and loss Pancreatic cancer SNP array 17952125 SCEL chr13 78094254 78127714 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCEL chr13 78100453 78101102 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 78100993 78106499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 78101102 78105643 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 78105643 78107836 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 78109808 78219397 Deletion Prostate cancer aCGH 22341455 SCEL chr13 78143800 79496369 LOH Normal High-resolution SNP genotyping 21211785 EDNRB,LINC00331,LINC00439,LINC00446,MIR3665,POU4F1,POU4F1-AS1,RNF219,SCEL,SLAIN1 chr1 37816336 37826981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 78178069 78211097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCEL chr13 78233311 78233787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 78257718 81598770 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EDNRB,LINC00331,LINC00439,LINC00446,MIR3665,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SLAIN1,SPRY2 chr1 37827246 37844482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 78272469 78338376 Deletion Prostate cancer aCGH 22341455 SLAIN1 chr13 78321367 78323344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLAIN1 chr13 78322600 78323338 Gain and loss Pancreatic cancer SNP array 17952125 SLAIN1 chr13 78355850 78355950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 78381055 78382678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 78398209 80421185 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-950K arrays 21546498 EDNRB,LINC00331,LINC00439,LINC00446,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219 chr13 78469615 78492965 Deletion Prostate cancer aCGH 22341455 EDNRB chr1 37849537 37873078 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 37849538 37873182 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 37849538 37873182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37849538 37873182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37849937 37850007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 37850501 37913000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 37850637 37866323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 3785282 3785322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DFFB chr13 78559069 78559403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 78562919 78566255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 78573490 79613894 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00331,LINC00446,POU4F1,POU4F1-AS1,RNF219 chr13 78584499 78584644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 78584671 78584840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 78597797 78598797 Gain Osteosarcoma References 21215367 LINC00446 chr13 78599737 78599837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00446 chr13 78602848 78602948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00446 chr13 78609677 78609777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00446 chr13 78613986 78614086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00446 chr13 78638255 78639021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POU4F1-AS1 chr13 78642773 78643773 Gain Osteosarcoma References 21215367 POU4F1-AS1 chr13 78651514 78651685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr13 78651669 78651866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr13 78651679 78651780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr13 78655407 78655462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POU4F1-AS1 chr13 78697760 78697860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr1 37872722 37872819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 37872725 37872818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 78778888 82887766 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00331,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SPRY2 chr13 78792107 78877924 Deletion T-cell lymphomas Array-CGH 22341440 POU4F1-AS1 chr13 78792107 78877924 Gain and loss Pancreatic cancer SNP array 17952125 POU4F1-AS1 chr13 78792109 78877924 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 POU4F1-AS1 chr13 78792109 78877924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POU4F1-AS1 chr13 78792109 78877924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POU4F1-AS1 chr13 78837347 79310431 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 POU4F1,POU4F1-AS1,RNF219 chr1 37884967 37885065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 78861678 78861766 Gain and loss Pancreatic cancer SNP array 17952125 POU4F1-AS1 chr13 78861678 78861766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POU4F1-AS1 chr13 78878450 79028211 Deletion T-cell lymphomas Array-CGH 22341440 POU4F1-AS1 chr13 78939162 78939262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr1 37895040 37899917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 78953288 79026222 Gain and loss Pancreatic cancer SNP array 17952125 POU4F1-AS1 chr13 78953288 79028211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POU4F1-AS1 chr13 78953288 79028211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POU4F1-AS1 chr13 78953340 79028211 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 POU4F1-AS1 chr13 78979394 78979709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POU4F1-AS1 chr13 78986804 78987804 Loss Osteosarcoma References 21215367 POU4F1-AS1 chr13 79000000 101700000 Amplification Rhabdomyosarcoma Quantitative real-time PCR 17210683 A2LD1,ABCC4,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,FARP1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,LINC00331,LINC00333,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00559,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR3170,MIR4306,MIR4500,MIR4500HG,MIR548AN,MIR622,MIR623,MIR92A1,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,POU4F1,POU4F1-AS1,RAP2A,RBM26,RBM26-AS1,RNF113B,RNF219,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,STK24,TGDS,TM9SF2,TMTC4,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 79000000 115169878 Loss Gastric cancer 5K BAC array CGH 17908304 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CDC16,CHAMP1,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCT,DCUN1D2,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,F10,F7,FAM155A,FAM70B,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GAS6,GAS6-AS1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRK1,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00331,LINC00333,LINC00343,LINC00346,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00443,LINC00460,LINC00551,LINC00552,LINC00559,LINC00565,LOC100506394,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYO16,MYO16-AS1,NALCN,NALCN-AS1,NDFIP2,NDFIP2-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,POU4F1,POU4F1-AS1,PROZ,RAB20,RAP2A,RASA3,RBM26,RBM26-AS1,RNF113B,RNF219,SLC10A2,SLC15A1,SLITRK1,SLITRK5,SLITRK6,SOX1,SOX21,SPACA7,SPRY2,STK24,TEX29,TEX30,TFDP1,TGDS,TM9SF2,TMCO3,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,UPF3A,ZIC2,ZIC5 chr13 79000000 87700000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 LINC00331,LINC00333,LINC00351,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SLITRK1,SLITRK6,SPRY2 chr13 79000000 87700000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 LINC00331,LINC00333,LINC00351,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SLITRK1,SLITRK6,SPRY2 chr13 79000000 87700000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 LINC00331,LINC00333,LINC00351,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SLITRK1,SLITRK6,SPRY2 chr13 79000000 95000000 Copy number Mantle cell lymphoma Affymetrix GeneChip mapping 100K SNP array 19690137 GPC5,GPC5-AS1,GPC6,GPC6-AS2,LINC00331,LINC00333,LINC00351,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR4500,MIR4500HG,MIR622,MIR92A1,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SLITRK1,SLITRK5,SLITRK6,SPRY2 chr13 79000000 95000000 Loss Gastric cancer 5K BAC array CGH 17908304 GPC5,GPC5-AS1,GPC6,GPC6-AS2,LINC00331,LINC00333,LINC00351,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR4500,MIR4500HG,MIR622,MIR92A1,NDFIP2,NDFIP2-AS1,POU4F1,POU4F1-AS1,RBM26,RBM26-AS1,RNF219,SLITRK1,SLITRK5,SLITRK6,SPRY2 chr13 79000000 98200000 Loss Gastric cancer 5K BAC array CGH 17908304 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR180,HS6ST3,LINC00331,LINC00333,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00559,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR4500,MIR4500HG,MIR622,MIR92A1,NDFIP2,NDFIP2-AS1,OXGR1,POU4F1,POU4F1-AS1,RAP2A,RBM26,RBM26-AS1,RNF219,SLITRK1,SLITRK5,SLITRK6,SOX21,SPRY2,TGDS,UGGT2 chr13 79025075 79027341 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 POU4F1-AS1 chr13 79031726 79031826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr13 79071636 79071736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr1 37911456 37913967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 79156820 79156896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr13 79161891 79162041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr13 79163313 79163411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr13 79166334 79166429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POU4F1-AS1 chr13 79173226 79177694 Deletion Prostate cancer aCGH 22341455 POU4F1,POU4F1-AS1 chr13 79188420 79233313 Deletion Prostate cancer aCGH 22341455 POU4F1-AS1,RNF219 chr1 37919829 37920400 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 37919837 37928779 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC728431 chr1 37919837 37928779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728431 chr1 37919837 37928779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728431 chr13 79236995 79237995 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 79259694 79259794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 79259801 79259899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 79271379 79271599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 79271585 79271800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 37928501 37931000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC728431 chr1 37929410 37936313 Gain and loss Pancreatic cancer SNP array 17952125 LOC728431 chr1 37930677 37947978 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC728431,ZC3H12A chr1 37930677 37947978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728431,ZC3H12A chr1 37930677 37947978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728431,ZC3H12A chr1 37931001 37932000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC728431 chr13 79320464 79320785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 37932694 37932794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC728431 chr13 79334893 81402686 Duplication Schizophrenia PennCNV software 19197363 LINC00331,NDFIP2,NDFIP2-AS1,RBM26,RBM26-AS1,SPRY2 chr1 37937710 37942950 Gain and loss Pancreatic cancer SNP array 17952125 LOC728431,ZC3H12A chr1 37940501 37954000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZC3H12A chr1 37943175 37944217 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H12A chr1 37949142 37982748 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEAF6,MIR5581,ZC3H12A chr1 37949901 37994360 Gain and loss Pancreatic cancer SNP array 17952125 MEAF6,MIR5581,ZC3H12A chr1 37952141 38003411 Gain or loss Breast cancer - 20668451 MEAF6,MIR5581,SNIP1 chr1 37952141 38003411 Gain or loss Cancer - 20668451 MEAF6,MIR5581,SNIP1 chr1 37952141 38003411 Gain or loss Lung cancer - 20668451 MEAF6,MIR5581,SNIP1 chr1 37952141 38003411 Gain or loss Ovarian cancer - 20668451 MEAF6,MIR5581,SNIP1 chr1 37952141 38003411 Gain or loss Pancreas cancer - 20668451 MEAF6,MIR5581,SNIP1 chr1 37952141 38003411 Gain or loss Prostate cancer - 20668451 MEAF6,MIR5581,SNIP1 chr1 37952148 38003411 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MEAF6,MIR5581,SNIP1 chr1 37952148 38003411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEAF6,MIR5581,SNIP1 chr1 37952148 38003411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEAF6,MIR5581,SNIP1 chr1 37954001 37955000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 37955001 37959000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEAF6 chr1 3795563 3806709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf174,DFFB chr13 79576311 79576628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 79576315 79576631 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 37959001 37966000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEAF6 chr13 79618064 79618164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 79643141 90704199 Copy number gain Normal High-resolution SNP genotyping 21211785 LINC00333,LINC00351,LINC00353,LINC00433,MIR4500,MIR4500HG,NDFIP2,NDFIP2-AS1,RBM26,RBM26-AS1,SLITRK1,SLITRK5,SLITRK6,SPRY2 chr13 79658936 89635029 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LINC00333,LINC00351,LINC00433,MIR4500,MIR4500HG,NDFIP2,NDFIP2-AS1,RBM26,RBM26-AS1,SLITRK1,SLITRK5,SLITRK6,SPRY2 chr1 37966001 38234000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf109,CDCA8,DNALI1,EPHA10,GNL2,MEAF6,MIR5581,RSPO1,SNIP1 chr1 3797002 3825141 Gain and loss Pancreatic cancer SNP array 17952125 C1orf174,DFFB,LOC100133612 chr1 37976214 37976313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEAF6 chr13 79764993 80160769 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-869K arrays 21546498 NDFIP2,NDFIP2-AS1,RBM26,RBM26-AS1 chr1 37979820 38014697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEAF6,SNIP1 chr13 79806921 79806986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 79808112 79813087 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 79808112 79813087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 79808112 79813087 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 79808112 79813087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 79808112 79813087 Gain or loss Cancer - 20668451 NOT_FOUND chr13 79808112 79813087 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 79808112 79813087 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 79808112 79813087 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 79808112 79813087 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 79808115 79813087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 37980833 37980995 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 79808475 79808857 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr13 79810102 79834010 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr13 79841562 79841670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 79841562 79841670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 79841563 79841670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 79868654 79868723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 37988461 37988559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 79894088 79979922 Deletion Prostate cancer aCGH 22341455 RBM26 chr13 79909180 79909280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM26 chr13 79924308 79924408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM26 chr13 79925758 79925858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM26 chr13 79939959 93658845 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 GPC5,GPC5-AS1,LINC00333,LINC00351,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR4500,MIR4500HG,MIR622,MIR92A1,NDFIP2,NDFIP2-AS1,RBM26,RBM26-AS1,SLITRK1,SLITRK5,SLITRK6,SPRY2 chr13 79975350 79975430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM26 chr13 79977262 79977351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM26 chr1 38004870 38004970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNIP1 chr13 80055258 80130211 Deletion Prostate cancer aCGH 22341455 NDFIP2,NDFIP2-AS1 chr13 80085929 80378221 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NDFIP2 chr13 80091234 80092203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDFIP2 chr13 80126891 80129129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDFIP2 chr13 80133411 80133499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38014929 38017681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNIP1 chr1 38019788 38019886 Gain and loss Pancreatic cancer SNP array 17952125 SNIP1 chr13 80198992 80199092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 80199081 80199231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 80203300 93116600 Loss Prostate cancer Array CGH 18632612 GPC5,LINC00333,LINC00351,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR4500,MIR4500HG,MIR622,MIR92A1,SLITRK1,SLITRK5,SLITRK6,SPRY2 chr1 38020878 38021144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 80299566 80299666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 80310102 80310202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38032142 38045938 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNALI1,GNL2 chr1 38032361 38045938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNALI1,GNL2 chr1 38032361 38045938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNALI1,GNL2 chr13 80360484 80361003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 80404712 80404834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38041201 38046452 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GNL2 chr1 38041201 38046452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNL2 chr1 38041201 38046452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNL2 chr13 80444802 81473168 LOH Normal High-resolution SNP genotyping 21211785 SPRY2 chr1 38045238 38047713 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GNL2 chr1 38045238 38047713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNL2 chr1 38045238 38047713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNL2 chr13 80476087 80476137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38047827 38097879 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GNL2,RSPO1 chr1 38047827 38097879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNL2,RSPO1 chr1 38047827 38097879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNL2,RSPO1 chr1 38048341 38048441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNL2 chr13 80489764 80519668 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 80504746 80660002 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr13 80570746 80571746 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 80574296 80574330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 80597813 80598113 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 80600527 80601527 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 80600838 80600938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 80607647 85267121 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LINC00333,SLITRK1,SPRY2 chr13 80645238 80645565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 80694614 80730699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 38069968 38070068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 80711441 81055084 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SPRY2 chr13 80737883 80737952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 80737883 80737952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 80737883 80737992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 80745027 80745306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 38079245 38079935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSPO1 chr13 80856366 80877228 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 38086948 38087044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSPO1 chr13 80910110 80915085 Deletion Prostate cancer aCGH 22341455 SPRY2 chr1 38092292 38125686 Gain and loss Pancreatic cancer SNP array 17952125 RSPO1 chr13 80935683 80935783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 80943189 82935388 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 80967766 80967866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 80969495 80983195 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 38098956 38185316 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C1orf109,CDCA8,EPHA10,RSPO1 chr1 38098956 38185316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf109,CDCA8,EPHA10,RSPO1 chr1 38098956 38185316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf109,CDCA8,EPHA10,RSPO1 chr13 80993417 80993517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81018353 81018451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81026555 81027175 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr13 81039542 84737228 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LINC00333,SLITRK1 chr13 81046139 81046358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 81072925 81073025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81162047 81163208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 81162048 81163214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 81162245 81162536 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 81162245 81162536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 81173913 81218632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 81195340 82621302 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 38123282 38123388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 81253643 81253697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 38126227 38126310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 38131537 38140270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 81337166 81337266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81378590 81378690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81385601 81385701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38143717 38830556 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C1orf109,C1orf122,CDCA8,EPHA10,FHL3,INPP5B,LOC339442,MANEAL,MIR3659,MTF1,POU3F1,SF3A3,UTP11L,YRDC chr13 81454541 81454641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38147507 38158587 Gain and loss Pancreatic cancer SNP array 17952125 C1orf109,CDCA8 chr13 81561604 81561673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81563368 81563468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81571893 82147460 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr1 3815958 4146056 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 C1orf174,LOC100133612,LOC728716 chr13 81598331 81628142 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 38161745 38196291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDCA8,EPHA10 chr1 3816501 3820000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf174,LOC100133612 chr13 81678749 81678849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81721648 81721748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81765610 81766610 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 38177683 38177783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81787196 81787538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 38180153 38181508 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 81809994 81810189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81836642 81836742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81855713 81856713 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 81872343 81873343 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 81895214 81895314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 81912886 82541118 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr13 81941909 81942909 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 38195241 38228348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHA10 chr1 38195241 38228348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHA10 chr1 38199587 38199686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA10 chr1 3820001 4013500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100133612,LOC728716 chr13 82031247 82031347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82035430 82280653 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 82063936 82070206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 82063946 82070153 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 82064001 82070119 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr13 82077450 82077756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 82097619 82097719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82107435 83057965 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 82118183 82970371 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 82186292 82928013 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 82201212 82280653 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr13 82295267 82296272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 38229721 38229827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHA10 chr13 82337657 82337882 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 38234001 38379000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf122,INPP5B,MANEAL,MTF1,YRDC chr1 38235025 38243830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 38235031 38243821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 38235031 38243821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 82367593 82367706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82367714 82367809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82368910 82383339 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 82391218 82391379 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 82391218 82391379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 3823950 3824031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100133612 chr1 38241217 38241296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82478310 82478507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 38251001 38262081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MANEAL chr1 38251001 38262081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MANEAL chr1 38251001 38262081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MANEAL chr13 82524366 82524466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82547457 82547575 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 82582048 82582148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82592802 82779067 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 82605431 82660287 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 82605532 82605682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82610774 82655793 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 82629962 82647948 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 82629962 82648278 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 82646047 82646147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82699229 82699438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 82714808 82715808 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 82714826 82715826 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 82727670 82727779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 82770207 82770302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 82770207 82770302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 82770207 82770303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 82810817 82811817 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 82820285 82821285 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 38282086 38285053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MTF1 chr1 38282086 38285053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTF1 chr1 38282086 38285053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTF1 chr13 82821536 82825906 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 82847283 82847505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 82859513 82859613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3828860 3840006 Gain and loss Pancreatic cancer SNP array 17952125 LOC100133612 chr13 82898799 82898884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 82915974 82916974 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 82934400 82934700 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 82935388 82964359 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 82935388 82964359 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 82956558 83175698 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 82960098 84087742 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 82964359 83901767 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 82968411 82969411 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 82993208 82994208 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 82993990 83057965 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 83000594 83057965 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 83052395 83062654 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83058832 83082111 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 83074501 83106181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83074542 83076898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83083494 83115179 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 83141116 83141620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 83156722 83159343 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 83182133 83183133 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 38318835 38319172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTF1 chr13 83193218 83228544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83203706 83203806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83272205 83272295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83327535 83327685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83349341 83354529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 83349341 83354529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 83349341 83354529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 83351553 83353643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 38336415 42647110 Loss Developmental delay affymetrix genechip 500K/SNP 6.3 array 21147756 AKIRIN1,BMP8A,BMP8B,CAP1,CITED4,COL9A2,CTPS1,DEM1,EDN2,FHL3,FOXJ3,GJA9,GJA9-MYCBP,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,INPP5B,KCNQ4,KIAA0754,LOC100130557,LOC339442,MACF1,MFSD2A,MIR30C1,MIR30E,MIR3659,MYCBP,MYCL1,NDUFS5,NFYC,NT5C1A,OXCT2,PABPC4,POU3F1,PPIE,PPIEL,PPT1,RHBDL2,RIMS3,RLF,RRAGC,SCMH1,SF3A3,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,TMCO2,TRIT1,UTP11L,ZMPSTE24,ZNF642,ZNF643,ZNF684 chr13 83377025 83377343 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 83379437 83379917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 83387061 83387361 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 83392502 83592744 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-905K arrays 21546498 NOT_FOUND chr13 83396202 84969814 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00333,SLITRK1 chr13 83429121 83429221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83432529 83432612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83441243 83441343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83469570 83469670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83471338 83516509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83475029 83475179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83481938 83482021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83492463 83492898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 83511816 83512816 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 38357621 38372178 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INPP5B chr13 83602334 83602433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83612632 83612676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83668529 83670196 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr13 83711618 83853235 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr1 38374840 38381444 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INPP5B chr1 38375058 38377329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP5B chr13 83801857 83826346 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83805424 83835483 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83806037 83820564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83811860 83818741 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83814332 83822559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83815092 83831947 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83815683 83823477 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 83830407 83831407 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 83875180 83875280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83986511 83986611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 83992239 83993704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 83993663 83993731 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 83993663 83993731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 83993733 83993790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 83993733 83993790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 83993791 83993861 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 83993791 83993861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 83993861 83996051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 38399550 38400550 Gain Chordoma References 21215367 INPP5B chr13 84016916 84017016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 84029239 84030239 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 84046794 84047794 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 84046864 84047864 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 84082986 84083986 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 84088098 84089098 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 84121248 84121356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 84144225 84144325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38414624 38417452 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 84168034 84168085 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 84171622 84171693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 84174436 84174504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 84211057 84212057 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 84216848 84217848 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 84223964 84224964 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 84306742 84306832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 84333326 84344511 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 84389000 84389142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 84389018 84389223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 84403014 85324758 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00333,SLITRK1 chr13 84451342 84456527 Deletion Prostate cancer aCGH 22341455 SLITRK1 chr13 84485084 84905658 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 LINC00333 chr13 84499696 85637709 LOH Normal High-resolution SNP genotyping 21211785 LINC00333 chr1 38451968 38475924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FHL3,SF3A3 chr13 84634437 84668241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 38466052 38466114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHL3 chr13 84668380 84668480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 84690000 85360000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 LINC00333 chr13 84720607 84720707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00333 chr13 84727481 84727581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00333 chr13 84755845 84756845 Loss Osteosarcoma References 21215367 LINC00333 chr13 84769984 84770984 Loss Osteosarcoma References 21215367 LINC00333 chr13 84773871 84774871 Gain Osteosarcoma References 21215367 LINC00333 chr13 84827517 84827694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00333 chr13 84832901 84837700 Deletion Glioma mate-paired sequence 20126413 LINC00333 chr13 84834702 84835632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00333 chr13 84834716 84835338 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LINC00333 chr13 84853779 85313978 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 LINC00333 chr13 84881848 84882848 Gain Osteosarcoma References 21215367 LINC00333 chr13 84886089 84887089 Gain Osteosarcoma References 21215367 LINC00333 chr13 84909048 84910048 Loss Osteosarcoma References 21215367 LINC00333 chr13 84916029 84961895 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00333 chr13 85031479 86090570 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00333,LINC00351 chr13 85053583 85053683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00333 chr1 38505670 38505770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85056884 85056989 Gain and loss Pancreatic cancer SNP array 17952125 LINC00333 chr13 85056884 85056989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00333 chr13 85160517 85160577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00333 chr13 85264922 85271484 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr13 85264923 85271484 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 85264923 85271484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 85264923 85271484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 85264923 85271484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 85287872 85287972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85302744 108185086 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A2LD1,ABCC4,ARGLU1,BIVM,BIVM-ERCC5,CCDC168,CLDN10,CLDN10-AS1,CLYBL,DAOA,DAOA-AS1,DCT,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,ITGBL1,KDELC1,LINC00343,LINC00351,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00443,LINC00460,LINC00551,LINC00559,MBNL2,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR4306,MIR4500,MIR4500HG,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,RAP2A,RNF113B,SLC10A2,SLC15A1,SLITRK5,SLITRK6,SOX21,STK24,TEX30,TGDS,TM9SF2,TMTC4,TPP2,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 85310197 85316919 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 38531424 38531529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 38531424 38531530 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 85405618 85406618 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 85416536 85416630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85422486 85423486 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 85441135 85441669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 85473560 85473779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85498637 85498693 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 85571794 85574247 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 85578965 85579065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85595764 85711152 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr13 85643020 85643120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85725756 85727520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 85725966 85727490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 85780631 85780731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38579873 38579956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85798893 86090570 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00351 chr13 85834842 87050385 LOH Normal High-resolution SNP genotyping 21211785 LINC00351,SLITRK6 chr13 85839531 86832893 LOH Normal High-resolution SNP genotyping 21211785 LINC00351,SLITRK6 chr13 85871617 85871738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85891468 86093892 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 LINC00351 chr13 85899372 85899451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 85953186 85953489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00351 chr13 86002839 86118457 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LINC00351 chr1 38604145 38604245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 86139745 86139802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 86166257 86166443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 86175756 86176309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 86207782 86207882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38623584 39669429 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKIRIN1,GJA9,GJA9-MYCBP,LOC339442,MACF1,MYCBP,NDUFS5,RHBDL2,RRAGC chr13 86249424 86251550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 86261693 86261752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38630372 38630472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38634918 38635024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 86366921 86373482 Deletion Prostate cancer aCGH 22341455 SLITRK6 chr13 86432927 86518090 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 86456891 88122989 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4500HG chr13 86481846 94791642 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 GPC5,GPC5-AS1,GPC6,GPC6-AS2,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR4500,MIR4500HG,MIR622,MIR92A1,SLITRK5 chr13 86484088 86607162 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr13 86500000 88800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR4500,MIR4500HG,SLITRK5 chr13 86500000 88800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR4500,MIR4500HG,SLITRK5 chr13 86500000 88800000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 MIR4500,MIR4500HG,SLITRK5 chr1 38651951 38686942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339442 chr1 38653994 38654034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 86636203 86637203 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 86669260 86669525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 86705053 86705153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 86796651 87270500 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr13 86825948 86826269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 86829728 86830514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 86954602 87112550 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 86998038 87040058 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr13 87038982 87039082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38704515 38704563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87070515 90528525 LOH Normal High-resolution SNP genotyping 21211785 LINC00353,LINC00433,MIR4500,MIR4500HG,SLITRK5 chr13 87073096 87074096 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 38709120 38709220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87122355 87122455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87122870 87129871 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr13 87122871 87129869 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 87122871 87129869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 87122871 87129869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 87122871 87129869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 87126501 87128500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 87147371 87147471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87184914 87185014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87274249 87274308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87282781 88122989 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4500HG chr13 87304169 88578303 Deletion Breast cancer FISH 17142309 MIR4500,MIR4500HG,SLITRK5 chr13 87340428 87342728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 87340428 87342728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 87348304 87348404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87392779 87392937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87392946 87393169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87392954 87393054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87408016 87408116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87443748 88258546 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 MIR4500HG chr1 38748243 38804841 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr13 87488103 87523390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 87574764 87574864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87597947 87598947 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 87607205 87880054 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-962K arrays 21546498 NOT_FOUND chr13 87638115 87638176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 87686863 87687223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 87700000 90000000 Loss Mental retardation Array CGH 17847001 LINC00433,MIR4500,MIR4500HG,SLITRK5 chr13 87700000 95000000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 GPC5,GPC5-AS1,GPC6,GPC6-AS2,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR4500,MIR4500HG,MIR622,MIR92A1,SLITRK5 chr13 87781421 87781511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87801266 87801601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 87803180 87803280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87871250 87871540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 87913237 88370388 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 MIR4500,MIR4500HG,SLITRK5 chr13 87932677 87932777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 87950166 87950266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88049501 88053700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 88051456 88051782 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 88162976 88215544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4500HG chr13 88170283 88170364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR4500HG chr13 88171370 88204968 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4500HG chr13 88209082 88673975 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4500,MIR4500HG,SLITRK5 chr13 88214498 89104192 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4500,MIR4500HG,SLITRK5 chr13 88219947 88221212 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MIR4500HG chr13 88219968 88220922 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR4500HG chr13 88226812 88226912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR4500HG chr13 88285578 88330805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4500HG,SLITRK5 chr13 88336835 89924061 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00433 chr13 88338592 88338677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88366626 88366726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88372790 88372943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 88375237 88375307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88380665 88380723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 88428702 88429040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 38843692 38845657 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 88476233 88642741 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr13 88493828 88493908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88548686 88616939 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr1 38856803 38859937 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 38856803 38859937 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr13 88594853 88637416 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr13 88656527 89117305 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr13 88699073 88700355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 88724172 88724261 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 88725651 88759593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 88765453 88839350 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 88765453 88839350 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr13 88781552 88781627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88789746 88789846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88800000 114142980 Gain Glioblastoma multiforme aCGH 21080181 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCT,DCUN1D2,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00353,LINC00359,LINC00379,LINC00410,LINC00433,LINC00443,LINC00460,LINC00551,LINC00559,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PROZ,RAB20,RAP2A,RNF113B,SLC10A2,SLC15A1,SOX1,SOX21,SPACA7,STK24,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 88800000 93800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GPC5,GPC5-AS1,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr13 88800000 93800000 Copy number Normal - 20680643 GPC5,GPC5-AS1,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr13 88800000 93800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GPC5,GPC5-AS1,LINC00353,LINC00379,LINC00410,LINC00433,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr13 88800628 88800728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88805179 89315863 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 LINC00433 chr13 88811410 88811790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 88811578 88813191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 88817153 88817251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88883889 89379578 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 LINC00433 chr1 38890695 38890772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88914642 88914742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 88928017 89042174 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 38896190 39594324 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKIRIN1,GJA9,GJA9-MYCBP,MACF1,MYCBP,NDUFS5,RHBDL2,RRAGC chr13 88986260 88986409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38901189 38907774 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr13 89045402 89045702 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 89050628 89051628 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 89064951 89065951 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 89078604 89078704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 89088605 89156716 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr13 89092525 89112694 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 89092938 89126705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 89107905 89139238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 89113655 89127882 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 89145930 89146015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 89190615 89924061 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00433 chr13 89219369 89219521 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 89283565 89283762 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 89283565 89283762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 89287425 89287492 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 89287425 89287492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 89306494 89306594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 89341912 89342012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 89356432 89377804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 89442094 89442940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 89442100 89443144 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 89446785 89447785 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 38947186 38949151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 89471872 89471972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 89486704 89487704 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 89500014 93206506 Amplification Cancer Affymetrix 250K Sty array 20164920 GPC5,LINC00353,LINC00379,LINC00410,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr13 89510389 89510484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 89524945 89524999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 89556363 90080636 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr13 89580000 96810000 Amplification Burkitt's lymphoma 244 K aCGH platform 19759907 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR180,HS6ST3,LINC00353,LINC00379,LINC00410,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1,SOX21,TGDS,UGGT2 chr13 89586001 89586095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 89586001 89586095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 89621121 89622054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 89660713 89662792 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 89660853 89662807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 89680639 89681937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 89681437 89681532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 89689844 89689944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 89722820 89722920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 38974114 38994433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 89750374 89815511 Loss Autism - 20841430 NOT_FOUND chr13 89784460 114142980 Gain Wilms tumour 250K Genotyping Arrays 21544195 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCT,DCUN1D2,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00353,LINC00359,LINC00379,LINC00410,LINC00443,LINC00460,LINC00551,LINC00559,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PROZ,RAB20,RAP2A,RNF113B,SLC10A2,SLC15A1,SOX1,SOX21,SPACA7,STK24,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 8985398 18912759 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr13 89874260 89960670 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 89958040 89958288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 38997730 39016378 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90000000 95000000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 GPC5,GPC5-AS1,GPC6,GPC6-AS2,LINC00353,LINC00379,LINC00410,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr13 90000000 95000000 Copy number Effusion lymphoma Real-time QPCR 18079361 GPC5,GPC5-AS1,GPC6,GPC6-AS2,LINC00353,LINC00379,LINC00410,LINC00559,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr13 90000000 98200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR180,HS6ST3,LINC00353,LINC00359,LINC00379,LINC00410,LINC00559,MBNL2,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1,OXGR1,RAP2A,SOX21,TGDS,UGGT2 chr13 90019502 90019602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90166047 90729125 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00353,LINC00559 chr13 90166047 90970278 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00353,LINC00559,MIR622 chr13 90207090 90207190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00353 chr1 39021072 39061602 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90232025 90232123 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90232025 90232123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90255260 108727763 Gain Developmental delay affymetrix genechip 500K/SNP 6.57 array 21147756 A2LD1,ABCC4,ARGLU1,BIVM,BIVM-ERCC5,CCDC168,CLDN10,CLDN10-AS1,CLYBL,DAOA,DAOA-AS1,DCT,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC5,GPC5-AS1,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,ITGBL1,KDELC1,LINC00343,LINC00359,LINC00379,LINC00410,LINC00443,LINC00460,LINC00551,LINC00559,MBNL2,METTL21C,METTL21CP1,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR622,MIR623,MIR92A1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,RAP2A,RNF113B,SLC10A2,SLC15A1,SOX21,STK24,TEX30,TGDS,TM9SF2,TMTC4,TPP2,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr1 39027237 40780163 Amplification Esophageal cancer affymetrix genechip human mapping 250K Nsp arrays 21851588 AKIRIN1,BMP8A,BMP8B,CAP1,COL9A2,GJA9,GJA9-MYCBP,HEYL,HPCAL4,KIAA0754,MACF1,MFSD2A,MYCBP,MYCL1,NDUFS5,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,PPT1,RHBDL2,RLF,RRAGC,SNORA55,TMCO2,TRIT1,ZMPSTE24 chr13 90281236 90281336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90300555 90300655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90362259 90843579 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 LINC00559 chr13 90372387 90373387 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 90393306 90393375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90401665 90401836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90401829 90401863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90401849 90402006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90410860 90410960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90450000 90970000 Gain Acute lymphoblastic leukemia - 21339820 LINC00559,MIR622 chr13 90459000 90975000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 LINC00559,MIR622 chr13 90473987 90474209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39049918 39050571 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 90550316 90550576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90550561 90550719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 9056460 46567011 Copy number Lung cancer paired-end sequencing 18438408 AKAP11,ALG5,ALOX5AP,ANKRD20A9P,ANKRD26P3,ATP12A,ATP5EP2,ATP8A2,B3GALTL,BASP1P1,BRCA2,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,CCDC122,CCDC169,CCDC169-SOHLH2,CCNA1,CDK8,CDX2,CENPJ,COG3,COG6,CRYL1,CSNK1A1L,DCLK1,DGKH,DNAJC15,EEF1DP3,EFHA1,ELF1,ENOX1,EPSTI1,EXOSC8,FAM123A,FAM194B,FAM216B,FAM48A,FGF9,FLT1,FLT3,FOXO1,FREM2,FRY,GJA3,GJB2,GJB6,GPR12,GSX1,GTF2F2,GTF3A,HMGB1,HSPH1,IFT88,IL17D,KATNAL1,KBTBD6,KBTBD7,KCTD4,KIAA1704,KL,LACC1,LATS2,LHFP,LINC00284,LINC00297,LINC00327,LINC00330,LINC00332,LINC00366,LINC00398,LINC00421,LINC00423,LINC00424,LINC00426,LINC00442,LINC00457,LINC00544,LINC00547,LINC00548,LINC00571,LINC00598,LNX2,MAB21L1,MEDAG,MINOS1P1,MIPEP,MIPEPP3,MIR2276,MIR320D1,MIR4305,MIR4499,MIR5006,MIR548F5,MIR621,MPHOSPH8,MRP63,MRPS31,MTIF3,MTMR6,MTRF1,MTUS2,MTUS2-AS1,N4BP2L1,N4BP2L2,N4BP2L2-IT2,N6AMT2,NAA16,NBEA,NHLRC3,NUFIP1,NUPL1,OR7E37P,PABPC3,PAN3,PAN3-AS1,PARP4,PDS5B,PDX1,POLR1D,POMP,POSTN,PRHOXNB,PROSER1,PSPC1,RASL11A,RFC3,RFXAP,RGCC,RNF17,RNF6,RNU6-52,RPL21,RPL21P28,RXFP2,SACS,SAP18,SERP2,SERTM1,SGCG,SHISA2,SIAH3,SKA3,SLC25A15,SLC25A30,SLC46A3,SLC7A1,SMAD9,SMIM2-IT1,SNORA27,SNORA31,SNORD102,SOHLH2,SPATA13,SPATA13-AS1,SPERT,SPG20,SPG20OS,STARD13,STARD13-AS2,STOML3,SUGT1P3,TEX26,TEX26-AS1,TNFRSF19,TNFSF11,TPT1,TPT1-AS1,TPTE2,TPTE2P1,TPTE2P5,TPTE2P6,TRPC4,TSC22D1,TSC22D1-AS1,TUBA3C,UBL3,UFM1,USP12,USPL1,VWA8,VWA8-AS1,WASF3,WBP4,XPO4,ZAR1L,ZC3H13,ZDHHC20,ZMYM2,ZMYM5 chr13 9058806 18913284 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 39061635 39061737 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 39061635 39061760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90652486 90686646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 90700212 90702310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 90705260 90705360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90722336 90722832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00559 chr13 90722336 90722862 Gain and loss Pancreatic cancer SNP array 17952125 LINC00559 chr13 90724605 90760114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00559 chr13 90738653 90738693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00559 chr1 39077608 39097927 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 39077608 39097927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39077608 39097927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90798075 90804830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 90798075 90804830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90798075 90804830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90798075 90804870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90800860 90800943 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90800860 90800943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90800995 90801089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90800998 90801089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90801006 90801076 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90801146 90801227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90801146 90801227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90801302 90801407 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90801320 90801390 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90801320 90801390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90801447 90801533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90801447 90801533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90801569 90801646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90801569 90801646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 90803191 90806624 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 90848501 90850000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 90848919 92316693 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPC5,LINC00379,LINC00410,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr13 90848919 92316693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC5,LINC00379,LINC00410,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr13 90849302 92316693 Gain and loss Pancreatic cancer SNP array 17952125 GPC5,LINC00379,LINC00410,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR622,MIR92A1 chr1 39085592 39085690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 90860332 91099862 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 MIR622 chr13 90862163 90862263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90892071 91144436 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 90909711 90909831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 90911836 91260943 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr13 90947464 90947643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90947664 90947836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 90970778 90970857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 39101221 39111637 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 39101221 39111637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39101221 39111637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39101222 39111637 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 NOT_FOUND chr1 39102778 39119856 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 39102778 39119856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39102778 39119856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 91036189 91036293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 91036189 91036294 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 91036189 91036296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 91085865 91089064 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr1 39109153 41523062 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AKIRIN1,BMP8A,BMP8B,CAP1,CITED4,COL9A2,CTPS1,DEM1,GJA9,GJA9-MYCBP,HEYL,HPCAL4,KCNQ4,KIAA0754,LOC100130557,MACF1,MFSD2A,MIR30C1,MIR30E,MYCBP,MYCL1,NDUFS5,NFYC,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,PPT1,RHBDL2,RIMS3,RLF,RRAGC,SCMH1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,TMCO2,TRIT1,ZMPSTE24,ZNF642,ZNF643,ZNF684 chr13 91169873 91591488 Copy number gain Normal High-resolution SNP genotyping 21211785 LINC00410 chr13 91170734 91198617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 91171876 91192980 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 91184318 91190368 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 91238178 91238278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 39124065 39138479 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 39124065 39138479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39124066 39180043 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 39124066 39180043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39124066 39180043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 91243230 91540303 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 39124587 39304462 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 NOT_FOUND chr1 39126146 39140655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 91337131 91337209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3913633 5229374 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AJAP1,LOC284661,LOC728716 chr13 91412280 91412380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 91449858 92595348 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPC5,LINC00379,LINC00410,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR92A1 chr13 91510097 91510227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 91510097 91510227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 91594648 91642718 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 91594648 91642718 Gain or loss Cancer - 20668451 NOT_FOUND chr13 91594648 91642718 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 91594648 91642718 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 91594648 91642718 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 91594648 91642718 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 39161099 39169379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 91630927 91632886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39165129 39165236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 91700597 91700688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 91721168 92595348 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPC5,LINC00379,MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR92A1 chr13 91793670 91824308 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00379 chr13 91798105 91798305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00379 chr13 91799242 91827623 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00379 chr13 91807397 91826529 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00379 chr13 91807397 91827017 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00379 chr13 91813472 91827017 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00379 chr13 91821539 91821571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00379 chr13 91840799 91840899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00379 chr13 91854849 91855416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00379 chr13 91855061 91889577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00379 chr1 39189084 39189184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 91940402 91940488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39196534 39197184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 92024822 92025822 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 92024874 92025874 Loss Osteosarcoma References 21215367 NOT_FOUND chr13 92024888 92025888 Gain Osteosarcoma References 21215367 NOT_FOUND chr13 92031106 92031176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 92040969 92087283 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC5 chr13 92042472 92043865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 92042574 92043966 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 92064542 92097535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC5 chr13 92152785 92152885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr1 39216017 39956772 LOH Normal High-resolution SNP genotyping 21211785 AKIRIN1,GJA9,GJA9-MYCBP,KIAA0754,MACF1,MYCBP,NDUFS5,RHBDL2,RRAGC chr13 92161553 92161676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92161569 92161669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92161668 92161881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92161683 92161783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92170446 92881679 LOH Normal High-resolution SNP genotyping 21211785 GPC5 chr13 92178460 92881679 LOH Normal High-resolution SNP genotyping 21211785 GPC5 chr13 92186056 92187056 Loss Osteosarcoma References 21215367 GPC5 chr1 39218932 39621882 Gain and loss Pancreatic cancer SNP array 17952125 AKIRIN1,GJA9,GJA9-MYCBP,MACF1,MYCBP,NDUFS5,RHBDL2,RRAGC chr13 92191928 92881679 LOH Normal High-resolution SNP genotyping 21211785 GPC5 chr13 92223455 92224455 Gain Osteosarcoma References 21215367 GPC5 chr13 92225461 92226461 Gain Osteosarcoma References 21215367 GPC5 chr13 92261069 92261284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92261192 92261286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92261270 92261472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92272100 92273100 Gain Osteosarcoma References 21215367 GPC5 chr1 39229504 39257279 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 39229504 39257279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39229504 39257279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 92308911 94031607 Deletion Cancer Affymetrix 250K Sty array 20164920 GPC5,GPC5-AS1,GPC6 chr13 92329459 92330538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC5 chr13 92353563 92353619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC5 chr13 92408548 92420068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC5 chr13 92448582 92448638 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC5 chr13 92502487 92536627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC5 chr13 92513765 92513979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92513878 92513978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92543256 93360714 LOH Normal High-resolution SNP genotyping 21211785 GPC5,GPC5-AS1 chr1 39255705 39255808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 39258250 39258335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 92592532 92592597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92634637 92635637 Loss Osteosarcoma References 21215367 GPC5 chr1 39264122 39265122 Gain Chordoma References 21215367 NOT_FOUND chr1 39264577 39272895 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 39264593 39272842 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr1 39264593 39272873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39264593 39272873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 92677078 93858268 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GPC5,GPC5-AS1 chr13 92677095 93853948 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 GPC5,GPC5-AS1 chr13 92677501 92679000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPC5 chr13 92677711 93853472 Gain and loss Pancreatic cancer SNP array 17952125 GPC5,GPC5-AS1 chr13 92677711 93853948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPC5,GPC5-AS1 chr13 92677711 93853948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPC5,GPC5-AS1 chr13 92677711 93853948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC5,GPC5-AS1 chr13 92681568 92681657 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC5 chr13 92720837 92813231 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPC5 chr13 92728404 92812626 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPC5 chr1 39272930 39273815 Loss Normal 244K array 17666407 NOT_FOUND chr13 92734782 92807544 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPC5 chr13 92756433 95204126 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCT,GPC5,GPC5-AS1,GPC6,GPC6-AS2 chr13 92813960 92814451 Gain and loss Pancreatic cancer SNP array 17952125 GPC5 chr13 92825034 92825236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92825250 92825347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr1 3928417 3978407 Deletion Glioblastoma multiforme Array CGH 19115005 NOT_FOUND chr13 92845182 92846109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC5 chr13 92854589 92855589 Loss Osteosarcoma References 21215367 GPC5 chr13 92875269 92875369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92880558 93044066 Deletion Developmental delay array CGH 20808231 GPC5 chr13 92880558 93044066 Deletion Obesity array CGH 20808231 GPC5 chr1 39288972 39289061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 92899659 93008859 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPC5 chr13 92914196 92914296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 92930914 92954403 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPC5 chr13 92972655 93146180 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPC5 chr13 92973466 92973529 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 GPC5 chr13 92973823 93088355 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GPC5 chr1 39301609 39301759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93019728 93019820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 93054726 93081018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC5 chr13 93084509 93906502 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPC5,GPC5-AS1,GPC6 chr1 3930886 3957262 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr13 93100914 93101137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 93101038 93101138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 93101149 93101309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 93190400 93190497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC5 chr13 93208850 93253629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC5 chr1 39322426 39725376 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKIRIN1,GJA9,GJA9-MYCBP,MACF1,MYCBP,NDUFS5,RHBDL2,RRAGC chr1 39322426 39725376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKIRIN1,GJA9,GJA9-MYCBP,MACF1,MYCBP,NDUFS5,RHBDL2,RRAGC chr1 39322426 39725376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKIRIN1,GJA9,GJA9-MYCBP,MACF1,MYCBP,NDUFS5,RHBDL2,RRAGC chr13 93280695 93280695 Copy number Prostate cancer Illumina GA II sequencer 21307934 GPC5 chr13 93289062 93317950 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 GPC5 chr13 93301393 93318026 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 GPC5 chr13 93378204 93378304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC5 chr13 93454383 93469018 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GPC5 chr13 93475750 93475849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC5 chr13 93475764 93475853 Gain and loss Pancreatic cancer SNP array 17952125 GPC5 chr13 93520340 93520430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93534101 99403700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,FARP1,GPC6,GPC6-AS2,GPR180,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,OXGR1,RAP2A,RNF113B,SLC15A1,SOX21,STK24,TGDS,UGGT2 chr1 39355371 39360730 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 RHBDL2 chr13 93566637 94168042 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 GPC6 chr13 93578142 93699087 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 39359199 39359302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHBDL2 chr13 93605842 93605908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93691429 94332338 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-837K arrays 21546498 GPC6 chr13 93740256 93740356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93750891 93783925 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 93774552 93774991 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr13 93800000 100500000 Amplification Esophageal squamous carcinoma CGH 21637470 ABCC4,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,FARP1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,MIR4306,MIR548AN,MIR623,OXGR1,RAP2A,RNF113B,SLC15A1,SOX21,STK24,TGDS,TM9SF2,UBAC2,UBAC2-AS1,UGGT2 chr13 93800000 100500000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABCC4,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,FARP1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,MIR4306,MIR548AN,MIR623,OXGR1,RAP2A,RNF113B,SLC15A1,SOX21,STK24,TGDS,TM9SF2,UBAC2,UBAC2-AS1,UGGT2 chr13 93800000 100500000 Gain Cancer array-based techniques 21183584 ABCC4,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,FARP1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,MIR4306,MIR548AN,MIR623,OXGR1,RAP2A,RNF113B,SLC15A1,SOX21,STK24,TGDS,TM9SF2,UBAC2,UBAC2-AS1,UGGT2 chr13 93800000 100500000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCC4,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,FARP1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,MIR4306,MIR548AN,MIR623,OXGR1,RAP2A,RNF113B,SLC15A1,SOX21,STK24,TGDS,TM9SF2,UBAC2,UBAC2-AS1,UGGT2 chr13 93800000 100500000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ABCC4,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,FARP1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,MIR4306,MIR548AN,MIR623,OXGR1,RAP2A,RNF113B,SLC15A1,SOX21,STK24,TGDS,TM9SF2,UBAC2,UBAC2-AS1,UGGT2 chr13 93800000 114142980 Duplication abortions and stillbirths array CGH 19751515 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCT,DCUN1D2,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00359,LINC00443,LINC00460,LINC00551,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PROZ,RAB20,RAP2A,RNF113B,SLC10A2,SLC15A1,SOX1,SOX21,SPACA7,STK24,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 93800000 114142980 Loss Thyroid cancer FISH 19087340 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCT,DCUN1D2,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00359,LINC00443,LINC00460,LINC00551,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PROZ,RAB20,RAP2A,RNF113B,SLC10A2,SLC15A1,SOX1,SOX21,SPACA7,STK24,TEX29,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 93800000 97000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC6,GPC6-AS2,GPR180,HS6ST3,SOX21,TGDS,UGGT2 chr13 93800000 97000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC6,GPC6-AS2,GPR180,HS6ST3,SOX21,TGDS,UGGT2 chr13 93804748 93804848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93813097 93813197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93828240 93828408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93828404 93828555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93835990 93836090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93848525 93848625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 93889000 103489000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 A2LD1,ABCC4,BIVM,BIVM-ERCC5,CCDC168,CLDN10,CLDN10-AS1,CLYBL,DCT,DNAJC3,DOCK9,DZIP1,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,IPO5,ITGBL1,KDELC1,LINC00359,MBNL2,METTL21C,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR623,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,RAP2A,RNF113B,SLC15A1,SOX21,STK24,TEX30,TGDS,TM9SF2,TMTC4,TPP2,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 93889844 93929924 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPC6 chr13 93889844 93929924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 93889844 93929924 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 93889844 93929924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 93890030 111773454 Deletion Acute myeloid leukemia - 21251322 A2LD1,ABCC4,ABHD13,ANKRD10,ARGLU1,ARHGEF7,BIVM,BIVM-ERCC5,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,DAOA,DAOA-AS1,DCT,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC6,GPC6-AS2,GPR18,GPR180,GPR183,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LIG4,LINC00343,LINC00346,LINC00359,LINC00443,LINC00460,LINC00551,MBNL2,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,RAB20,RAP2A,RNF113B,SLC10A2,SLC15A1,SOX21,STK24,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 93901607 94274883 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPC6 chr13 93906444 93940001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC6 chr13 93915555 93915645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr1 39392450 39392555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHBDL2 chr1 39392466 39392555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHBDL2 chr13 93952230 93952437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC6 chr13 93952238 93952497 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 GPC6 chr13 93985551 93985651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94015270 94015368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94024310 94046459 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94024336 94046512 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPC6 chr13 94024336 94046512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94024336 94046512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94028892 94030149 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GPC6 chr13 94042838 94047504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC6 chr13 94052105 94079947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPC6 chr13 94052105 94079947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94052105 94079947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94052158 94079943 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94101652 94101766 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94101652 94101766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94101652 94101784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94105600 94105800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94120551 94120723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94149478 94149757 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94149478 94149757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94160749 94162511 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPC6 chr13 94160749 94162511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94161474 94162304 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94207706 94209527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94207747 94209181 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94210808 94211270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94363391 94363491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94426410 94427410 Gain Osteosarcoma References 21215367 GPC6 chr13 94460207 94460507 Loss Osteosarcoma References 21215367 GPC6 chr13 94463570 94463670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94470084 94751688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPC6,GPC6-AS2 chr13 94470084 94751688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6,GPC6-AS2 chr13 94470091 94751684 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPC6,GPC6-AS2 chr13 94470091 94751684 Gain and loss Pancreatic cancer SNP array 17952125 GPC6,GPC6-AS2 chr13 94477838 94477938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6,GPC6-AS2 chr13 94503575 94503659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6,GPC6-AS2 chr13 94544941 94545041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94552927 94552982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94627589 95474824 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCT,GPC6,GPR180,SOX21,TGDS chr13 94629079 94646394 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPC6 chr13 94646838 94646937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC6 chr13 94660599 94660701 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94660599 94660701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94684005 94684105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94731666 94832412 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GPC6 chr13 94731666 94832412 Copy number gain Normal High-resolution SNP genotyping 21211785 GPC6 chr13 94732188 94832412 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GPC6 chr13 94758132 94758203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94761085 94761210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94761088 94761150 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94761088 94761150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94761747 94761896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94769714 94770714 Loss Osteosarcoma References 21215367 GPC6 chr13 94784167 94817457 Loss Normal Birdsuite, version 1.5.2 22087296 GPC6 chr13 94785359 94797183 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPC6 chr13 94785359 94812329 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPC6 chr13 94786361 94786456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94786363 94786456 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94786364 94786456 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94805858 94828927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPC6 chr13 94818226 94822462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC6 chr13 94818903 94819003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94837546 94838948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPC6 chr1 3948501 3971272 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 94876655 94877655 Loss Osteosarcoma References 21215367 GPC6 chr13 94876739 94877739 Gain Osteosarcoma References 21215367 GPC6 chr13 94883859 95029907 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPC6 chr13 94883859 95029907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94883859 95029907 Gain and loss Pancreatic cancer SNP array 17952125 GPC6 chr13 94883859 95029907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC6 chr13 94890046 94890127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94901020 94902020 Gain Osteosarcoma References 21215367 GPC6 chr13 94901467 94902467 Loss Osteosarcoma References 21215367 GPC6 chr13 94929624 95845195 LOH Normal High-resolution SNP genotyping 21211785 ABCC4,DCT,GPC6,GPR180,SOX21,TGDS chr13 94945811 94945911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC6 chr13 94988233 96585358 LOH Normal High-resolution SNP genotyping 21211785 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC6,GPR180,SOX21,TGDS,UGGT2 chr13 95000000 110300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 A2LD1,ABCC4,ABHD13,ARGLU1,BIVM,BIVM-ERCC5,CCDC168,CLDN10,CLDN10-AS1,CLYBL,DAOA,DAOA-AS1,DCT,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPC6,GPR18,GPR180,GPR183,HS6ST3,IPO5,ITGBL1,KDELC1,LIG4,LINC00343,LINC00359,LINC00443,LINC00460,LINC00551,MBNL2,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,RAP2A,RNF113B,SLC10A2,SLC15A1,SOX21,STK24,TEX30,TGDS,TM9SF2,TMTC4,TNFSF13B,TPP2,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 95000000 115169878 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CDC16,CHAMP1,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCT,DCUN1D2,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,F10,F7,FAM155A,FAM70B,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GAS6,GAS6-AS1,GPC6,GPR18,GPR180,GPR183,GRK1,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00359,LINC00443,LINC00460,LINC00551,LINC00552,LINC00565,LOC100506394,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PROZ,RAB20,RAP2A,RASA3,RNF113B,SLC10A2,SLC15A1,SOX1,SOX21,SPACA7,STK24,TEX29,TEX30,TFDP1,TGDS,TM9SF2,TMCO3,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,UPF3A,ZIC2,ZIC5 chr13 95000000 115169878 Gain Esophageal adenocarcinoma MLPA 18820669 A2LD1,ABCC4,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,ATP4B,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CDC16,CHAMP1,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCT,DCUN1D2,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,F10,F7,FAM155A,FAM70B,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GAS6,GAS6-AS1,GPC6,GPR18,GPR180,GPR183,GRK1,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00359,LINC00443,LINC00460,LINC00551,LINC00552,LINC00565,LOC100506394,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PROZ,RAB20,RAP2A,RASA3,RNF113B,SLC10A2,SLC15A1,SOX1,SOX21,SPACA7,STK24,TEX29,TEX30,TFDP1,TGDS,TM9SF2,TMCO3,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,UPF3A,ZIC2,ZIC5 chr13 95000000 98200000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC6,GPR180,HS6ST3,LINC00359,MBNL2,OXGR1,RAP2A,SOX21,TGDS,UGGT2 chr13 95000000 98200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC6,GPR180,HS6ST3,LINC00359,MBNL2,OXGR1,RAP2A,SOX21,TGDS,UGGT2 chr13 95000000 98200000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 ABCC4,CLDN10,CLDN10-AS1,DCT,DNAJC3,DZIP1,GPC6,GPR180,HS6ST3,LINC00359,MBNL2,OXGR1,RAP2A,SOX21,TGDS,UGGT2 chr13 95028458 95094945 Gain and loss Pancreatic cancer SNP array 17952125 DCT,GPC6 chr13 95028458 95094958 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCT,GPC6 chr13 95028458 95094958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCT,GPC6 chr13 95028458 95094958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCT,GPC6 chr13 95127394 95241598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCT,TGDS chr13 95127394 95241598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCT,TGDS chr13 95127412 95241302 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DCT,TGDS chr13 95127412 95241302 Gain and loss Pancreatic cancer SNP array 17952125 DCT,TGDS chr13 95127483 95241285 Amplification Intellectual disability 100k SNP Array 21811512 DCT,TGDS chr13 95142793 95144227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95144238 95144750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95144751 95144819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 95144751 95144819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95144824 95145955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95146087 95146134 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 95146087 95146134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95251839 95503638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR180,SOX21 chr13 95251839 95503638 Gain and loss Pancreatic cancer SNP array 17952125 GPR180,SOX21 chr13 95251839 95503638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR180,SOX21 chr13 95251839 95503662 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPR180,SOX21 chr13 95259565 95259862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR180 chr13 95291484 95291820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 95291581 95291820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 95365071 95365108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 95398634 95431437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 3954237 3958406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 39542553 39543157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95431424 95431741 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr13 95431424 95431741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 95474210 96029271 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCC4 chr13 95530475 95530582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95530493 95530582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 95530493 95530582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95541094 96283672 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ABCC4,CLDN10,CLDN10-AS1,DZIP1 chr13 95541094 96283672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC4,CLDN10,CLDN10-AS1,DZIP1 chr13 95541094 96283672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC4,CLDN10,CLDN10-AS1,DZIP1 chr13 95541118 96283453 Gain and loss Pancreatic cancer SNP array 17952125 ABCC4,CLDN10,CLDN10-AS1,DZIP1 chr13 95576502 96051348 Deletion Intellectual disability Array CGH 22102821 ABCC4 chr1 39561057 39562375 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MACF1 chr13 95613096 95613151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 95619801 95620100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95619810 95620102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 95619810 95620102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 95690692 95735796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABCC4 chr13 95699985 96275823 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-915K arrays 21546498 ABCC4,CLDN10,CLDN10-AS1,DZIP1 chr13 95717793 95723954 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABCC4 chr13 95727610 95727710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC4 chr1 39573249 39573330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACF1 chr13 95733556 95734556 Gain Osteosarcoma References 21215367 ABCC4 chr13 95750937 95751937 Loss Osteosarcoma References 21215367 ABCC4 chr13 95751238 95751338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC4 chr13 95911009 95911088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC4 chr13 95925796 95925885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC4 chr13 95961448 95961501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 3959767 3959825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 95980808 95980886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 39600000 43900000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BMP8A,BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,KCNQ4,KIAA0754,LEPRE1,LOC100129924,LOC100130557,MACF1,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PABPC4,PPCS,PPIE,PPIEL,PPIH,PPT1,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 39600000 43900000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BMP8A,BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,KCNQ4,KIAA0754,LEPRE1,LOC100129924,LOC100130557,MACF1,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PABPC4,PPCS,PPIE,PPIEL,PPIH,PPT1,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 39600000 43900000 Copy number Normal - 21701786 BMP8A,BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,KCNQ4,KIAA0754,LEPRE1,LOC100129924,LOC100130557,MACF1,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PABPC4,PPCS,PPIE,PPIEL,PPIH,PPT1,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 39600000 43900000 Deletion GLUT1 deficiency syndrome array-CGH analysis 20509907 BMP8A,BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,KCNQ4,KIAA0754,LEPRE1,LOC100129924,LOC100130557,MACF1,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PABPC4,PPCS,PPIE,PPIEL,PPIH,PPT1,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 39600000 43900000 Deletion GLUT2 deficiency syndrome array-CGH analysis 20509907 BMP8A,BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,KCNQ4,KIAA0754,LEPRE1,LOC100129924,LOC100130557,MACF1,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PABPC4,PPCS,PPIE,PPIEL,PPIH,PPT1,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 39600000 43900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BMP8A,BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,KCNQ4,KIAA0754,LEPRE1,LOC100129924,LOC100130557,MACF1,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PABPC4,PPCS,PPIE,PPIEL,PPIH,PPT1,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 39600000 43900000 Gain Lung cancer Array CGH 17925434 BMP8A,BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,KCNQ4,KIAA0754,LEPRE1,LOC100129924,LOC100130557,MACF1,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PABPC4,PPCS,PPIE,PPIEL,PPIH,PPT1,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 39600000 43900000 Gain Ovarian cancer Affymetrix 20844748 BMP8A,BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,KCNQ4,KIAA0754,LEPRE1,LOC100129924,LOC100130557,MACF1,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PABPC4,PPCS,PPIE,PPIEL,PPIH,PPT1,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 39600000 46500000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BMP8A,BMP8B,BTBD19,C1orf210,C1orf228,C1orf50,CAP1,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,DMAP1,DPH2,EBNA1BP2,EDN2,EIF2B3,ELOVL1,ERI3,ERMAP,FAM183A,FOXJ3,GPBP1L1,GUCA2A,GUCA2B,HECTD3,HEYL,HIVEP3,HPCAL4,HPDL,HYI,IPO13,IPP,KCNQ4,KDM4A,KDM4A-AS1,KIAA0754,KIF2C,KLF17,LEPRE1,LOC100129924,LOC100130557,LOC400752,MACF1,MAST2,MED8,MFSD2A,MIR30C1,MIR30E,MIR5584,MMACHC,MPL,MUTYH,MYCL1,NASP,NFYC,NT5C1A,OXCT2,PABPC4,PLK3,PPCS,PPIE,PPIEL,PPIH,PPT1,PRDX1,PTCH2,PTPRF,RIMKLA,RIMS3,RLF,RNF220,RPS15AP10,RPS8,SCMH1,SLC2A1,SLC2A1-AS1,SLC6A9,SLFNL1,SLFNL1-AS1,SMAP2,SNORA55,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,SZT2,TCTEX1D4,TESK2,TIE1,TMCO2,TMEM125,TMEM53,TMEM69,TOE1,TRIT1,UROD,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691,ZSWIM5 chr13 96008275 114142980 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 A2LD1,ABHD13,ADPRHL1,ANKRD10,ARGLU1,ARHGEF7,ATP11A,BIVM,BIVM-ERCC5,C13orf35,CARKD,CARS2,CCDC168,CLDN10,CLDN10-AS1,CLYBL,COL4A1,COL4A2,COL4A2-AS1,CUL4A,DAOA,DAOA-AS1,DCUN1D2,DNAJC3,DOCK9,DZIP1,EFNB2,ERCC5,F10,F7,FAM155A,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPR18,GPR183,GRTP1,HS6ST3,ING1,IPO5,IRS2,ITGBL1,KDELC1,LAMP1,LIG4,LINC00343,LINC00346,LINC00359,LINC00443,LINC00460,LINC00551,MBNL2,MCF2L,MCF2L-AS1,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,MYO16,MYO16-AS1,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,PCID2,PROZ,RAB20,RAP2A,RNF113B,SLC10A2,SLC15A1,SOX1,SPACA7,STK24,TEX29,TEX30,TM9SF2,TMTC4,TNFSF13B,TPP2,TUBGCP3,UBAC2,UBAC2-AS1,UGGT2,ZIC2,ZIC5 chr13 96023914 96024754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 96145836 96145923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLDN10,CLDN10-AS1 chr13 96147938 96147984 Gain and loss Pancreatic cancer SNP array 17952125 CLDN10,CLDN10-AS1 chr13 96147938 96147984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLDN10,CLDN10-AS1 chr13 96147986 96148053 Gain and loss Pancreatic cancer SNP array 17952125 CLDN10,CLDN10-AS1 chr13 96147986 96148053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLDN10,CLDN10-AS1 chr13 96157848 96157948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLDN10,CLDN10-AS1 chr13 96195380 98277377 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLDN10,DNAJC3,DZIP1,HS6ST3,LINC00359,MBNL2,OXGR1,RAP2A,UGGT2 chr13 96217131 96217231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLDN10 chr1 39626411 39660700 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 96287763 96289812 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DZIP1 chr13 96334097 96336076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC3 chr13 96334097 96336076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC3 chr13 96334097 96340068 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAJC3 chr13 96334097 96340068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC3 chr13 96386843 96386943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJC3 chr1 39639288 39639360 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 96397892 96399182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC3 chr13 96399449 96399788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC3 chr13 96399549 96399788 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC3 chr13 96399549 96399788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC3 chr13 96435974 96444605 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAJC3 chr13 96435974 96444605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC3 chr13 96435974 96444605 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC3 chr13 96435974 96444605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC3 chr13 96437415 97036437 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAJC3,HS6ST3,UGGT2 chr13 96437498 96437598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJC3 chr13 96473232 96473332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UGGT2 chr1 39649811 39651246 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 96507634 96507733 Gain and loss Pancreatic cancer SNP array 17952125 UGGT2 chr13 96507634 96507733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UGGT2 chr1 39651001 39652500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MACF1 chr1 39657051 39660450 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 96601475 96646815 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UGGT2 chr13 96604102 96652088 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 UGGT2 chr13 96625610 96625707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UGGT2 chr1 39662596 39664442 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 96671689 96844375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HS6ST3,UGGT2 chr13 96671689 96844375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3,UGGT2 chr13 96671689 96844375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3,UGGT2 chr13 96672575 96844374 Gain and loss Pancreatic cancer SNP array 17952125 HS6ST3,UGGT2 chr13 96690055 96690120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UGGT2 chr13 96756814 96756902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr13 96787890 96821603 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HS6ST3 chr13 96789396 96789460 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 HS6ST3 chr13 96813227 96813356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr13 96813247 96813356 Gain and loss Pancreatic cancer SNP array 17952125 HS6ST3 chr13 96813267 96813356 Gain and loss Pancreatic cancer SNP array 17952125 HS6ST3 chr1 39685801 40370914 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 BMP8A,BMP8B,HEYL,HPCAL4,KIAA0754,MACF1,MYCL1,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,SNORA55,TRIT1 chr1 39687052 39687152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACF1 chr13 96870747 96870817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr13 96884475 96918243 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HS6ST3 chr13 96884475 96918243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr13 96884475 96918243 Gain and loss Pancreatic cancer SNP array 17952125 HS6ST3 chr13 96884475 96918243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr13 96884476 96918245 Gain or loss Breast cancer - 20668451 HS6ST3 chr13 96884476 96918245 Gain or loss Cancer - 20668451 HS6ST3 chr13 96884476 96918245 Gain or loss Lung cancer - 20668451 HS6ST3 chr13 96884476 96918245 Gain or loss Ovarian cancer - 20668451 HS6ST3 chr13 96884476 96918245 Gain or loss Pancreas cancer - 20668451 HS6ST3 chr13 96884476 96918245 Gain or loss Prostate cancer - 20668451 HS6ST3 chr13 96900000 97728000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 HS6ST3,LINC00359,OXGR1 chr13 96901893 96906409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HS6ST3 chr13 96911347 96911432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr13 96925993 96926674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr13 96926005 96926674 Gain and loss Pancreatic cancer SNP array 17952125 HS6ST3 chr13 96931794 96976131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HS6ST3 chr13 96953856 101115104 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 CLYBL,DOCK9,FARP1,FKSG29,GPR18,GPR183,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,MIR4306,MIR548AN,MIR623,OXGR1,PCCA,RAP2A,RNF113B,SLC15A1,STK24,TM9SF2,UBAC2,UBAC2-AS1,ZIC2,ZIC5 chr1 39695581 39711460 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 97000000 98100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 HS6ST3,LINC00359,MBNL2,OXGR1,RAP2A chr13 97000115 97000195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr13 97011381 97011481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr1 39702139 39702273 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr1 39702139 39702275 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 97031231 97076198 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HS6ST3 chr13 97091318 106466700 Deletion prenatal diagnosis arrayCGH 22389664 A2LD1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,DAOA,DAOA-AS1,DOCK9,ERCC5,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPR18,GPR183,HS6ST3,IPO5,ITGBL1,KDELC1,LINC00343,LINC00359,MBNL2,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,NALCN,NALCN-AS1,OXGR1,PCCA,PCCA-AS1,RAP2A,RNF113B,SLC10A2,SLC15A1,STK24,TEX30,TM9SF2,TMTC4,TPP2,UBAC2,UBAC2-AS1,ZIC2,ZIC5 chr13 97109200 98182340 LOH Normal High-resolution SNP genotyping 21211785 HS6ST3,LINC00359,MBNL2,OXGR1,RAP2A chr13 97114918 97115018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr13 97223456 97223546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr13 97224357 97271034 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 HS6ST3 chr13 97244532 97244632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr1 39725551 39758832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACF1 chr13 97270228 100084626 Gain Bladder cancer array-CGH 21909424 DOCK9,FARP1,FKSG29,GPR18,GPR183,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,MIR548AN,MIR623,OXGR1,RAP2A,RNF113B,SLC15A1,STK24,UBAC2,UBAC2-AS1 chr1 39727501 39766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MACF1 chr1 39729905 39768124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr1 39729905 39768124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr1 39729905 39768128 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MACF1 chr13 97325276 97331818 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 HS6ST3 chr13 97336064 97336166 Gain and loss Pancreatic cancer SNP array 17952125 HS6ST3 chr13 97336064 97336166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr1 39734401 39734522 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACF1 chr13 97351908 97352543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr13 97353622 97353722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr13 97362292 98760893 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 HS6ST3,IPO5,LINC00359,MBNL2,OXGR1,RAP2A chr13 97403930 97474552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HS6ST3 chr13 97403930 97474552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr13 97403930 97474552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr13 97403949 97474550 Gain and loss Pancreatic cancer SNP array 17952125 HS6ST3 chr13 97404021 99434703 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 FARP1,HS6ST3,IPO5,LINC00359,MBNL2,MIR3170,OXGR1,RAP2A,RNF113B,SLC15A1,STK24 chr13 97407536 97407636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr1 39741502 39774411 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr1 39742782 39742854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr13 97434736 98277377 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HS6ST3,LINC00359,MBNL2,OXGR1,RAP2A chr13 97437205 97437471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS6ST3 chr1 39746 16783059 Substitutions and indels small cell lung cancer array-CGH 20016488 AADACL3,AADACL4,ACAP3,ACOT7,ACTRT2,AGMAT,AGRN,AGTRAP,AJAP1,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ARHGEF19,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf126,C1orf127,C1orf158,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf64,C1orf86,CA6,CALML6,CAMTA1,CASP9,CASZ1,CCDC27,CCNL2,CDK11A,CDK11B,CELA2A,CELA2B,CEP104,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CPSF3L,CTNNBIP1,CTRC,DDI2,DFFA,DFFB,DHRS3,DNAJC11,DNAJC16,DRAXIN,DVL1,EFHD2,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,EXOSC10,FAM131C,FAM132A,FAM213B,FAM41C,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,HNRNPCL1,HSPB7,ICMT,ISG15,KAZN,KCNAB2,KIAA1751,KIAA2013,KIF1B,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC440563,LOC643837,LOC649330,LOC728716,LOC729737,LRRC38,LRRC47,LZIC,MAD2L2,MASP2,MEGF6,MFN2,MIB2,MIIP,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4632,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MTHFR,MTOR,MTOR-AS1,MXRA8,NADK,NECAP2,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OR4F16,OR4F29,OR4F3,OR4F5,PANK4,PARK7,PDPN,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PTCHD2,PUSL1,RBP7,RER1,RERE,RNF207,RNF223,RPL22,RSC1A1,RSG1,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SSU72,SZRD1,TARDBP,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM51,TMEM52,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UBIAD1,UQCRHL,UTS2,VAMP3,VPS13D,VWA1,WRAP73,ZBTB17,ZBTB48 chr13 97465157 97495769 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 HS6ST3 chr13 97491347 97491447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST3 chr13 97492744 97493061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 97500141 97500241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 97519238 97519557 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 39753215 39754749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr13 97563335 97563415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 97585994 97586094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 97592816 97900024 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LINC00359,MBNL2,OXGR1 chr13 97593435 97900017 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00359,MBNL2,OXGR1 chr13 97593435 97900017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00359,MBNL2,OXGR1 chr13 97593435 97900017 Gain and loss Pancreatic cancer SNP array 17952125 LINC00359,MBNL2,OXGR1 chr13 97593435 97900017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00359,MBNL2,OXGR1 chr1 39760545 39763944 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MACF1 chr1 39760545 39763944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr13 97626040 97627522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00359 chr13 97626040 97627522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00359 chr13 97626040 97627522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00359 chr13 97626041 97627522 Gain and loss Pancreatic cancer SNP array 17952125 LINC00359 chr1 39762878 39762973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACF1 chr13 97649800 97649900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 97654097 97654406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 97654178 97654447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 97654178 97654447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39766001 39991000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BMP8A,KIAA0754,MACF1,PPIEL chr1 39770097 39796966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr1 39771283 39773791 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MACF1 chr1 39778695 39780869 Amplification or deletion Cancer Array CGH 17440070 MACF1 chr13 97790000 97850000 Gain Burkitt's lymphoma 244 K aCGH platform 19759907 NOT_FOUND chr1 39779114 39811605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACF1 chr13 97851595 97851757 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr13 97878001 97898500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MBNL2 chr13 97898501 97973000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MBNL2 chr13 97900455 98027397 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MBNL2 chr13 97900455 98027397 Gain or loss Breast cancer - 20668451 MBNL2 chr13 97900455 98027397 Gain or loss Cancer - 20668451 MBNL2 chr13 97900455 98027397 Gain or loss Lung cancer - 20668451 MBNL2 chr13 97900455 98027397 Gain or loss Ovarian cancer - 20668451 MBNL2 chr13 97900455 98027397 Gain or loss Pancreas cancer - 20668451 MBNL2 chr13 97900455 98027397 Gain or loss Prostate cancer - 20668451 MBNL2 chr13 97900456 98027397 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MBNL2 chr13 97900456 98027397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBNL2 chr13 97900456 98027397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBNL2 chr13 97902415 97972107 Gain and loss Pancreatic cancer SNP array 17952125 MBNL2 chr13 97906454 97939142 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MBNL2 chr13 97912902 97912997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBNL2 chr13 97924304 97939273 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MBNL2 chr1 39793886 39806803 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 97973001 97978500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MBNL2 chr13 97976560 98011074 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MBNL2 chr13 97982060 98003419 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MBNL2 chr13 97986851 97987246 Gain and loss Pancreatic cancer SNP array 17952125 MBNL2 chr1 39799075 39815049 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MACF1 chr1 39799075 39815049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr1 39799075 39815049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr13 98029663 98062754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MBNL2 chr13 98048160 98060116 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr13 98050201 98058300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr13 98051326 98057325 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr13 98052424 98055249 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 39805633 39805767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr13 98060547 98061131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98079939 98080244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98087717 98087782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAP2A chr13 98091069 98091494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAP2A chr13 98100000 100500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CLYBL,DOCK9,FARP1,FKSG29,GPR18,GPR183,IPO5,MIR3170,MIR4306,MIR548AN,MIR623,RAP2A,RNF113B,SLC15A1,STK24,TM9SF2,UBAC2,UBAC2-AS1 chr13 98100000 100500000 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CLYBL,DOCK9,FARP1,FKSG29,GPR18,GPR183,IPO5,MIR3170,MIR4306,MIR548AN,MIR623,RAP2A,RNF113B,SLC15A1,STK24,TM9SF2,UBAC2,UBAC2-AS1 chr13 98111975 98113794 Loss Normal Birdsuite, version 1.5.2 22087296 RAP2A chr13 98122235 98122530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98122236 98122533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 98127531 98127626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 98134057 98202909 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 98134057 98202909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 98134057 98202909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 39813734 39826179 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 98189806 104672018 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 A2LD1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,DOCK9,ERCC5,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPR18,GPR183,IPO5,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,NALCN,NALCN-AS1,PCCA,PCCA-AS1,RNF113B,SLC10A2,SLC15A1,STK24,TEX30,TM9SF2,TMTC4,TPP2,UBAC2,UBAC2-AS1,ZIC2,ZIC5 chr13 98195578 98195678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 98200000 99300000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 FARP1,IPO5,MIR3170,RNF113B,STK24 chr13 98206541 102272032 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 A2LD1,CLYBL,DOCK9,FARP1,FKSG29,GPR18,GPR183,IPO5,ITGBL1,MIR3170,MIR4306,MIR548AN,MIR623,NALCN,NALCN-AS1,PCCA,PCCA-AS1,RNF113B,SLC15A1,STK24,TM9SF2,TMTC4,UBAC2,UBAC2-AS1,ZIC2,ZIC5 chr13 98223001 98236000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 98238518 98238668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 98243742 98536661 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 98243742 98536661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98243742 98536661 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 98243742 98536661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98266157 98266189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 98327904 98328004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 98400012 98400702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 98400012 98400702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98414474 99805819 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-956K arrays 21546498 DOCK9,FARP1,IPO5,MIR3170,RNF113B,SLC15A1,STK24 chr13 98421704 98421838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 98432573 98432630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr13 98471182 98644517 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 IPO5 chr13 98475489 98475597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 98475494 98475600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98476266 98476352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr13 98576848 98576922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 39858331 39858393 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 98611288 98611438 Gain and loss Pancreatic cancer SNP array 17952125 IPO5 chr13 98611288 98611438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO5 chr13 98611797 98611920 Gain and loss Pancreatic cancer SNP array 17952125 IPO5 chr13 98611797 98611920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO5 chr1 39861691 39877935 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIAA0754,MACF1 chr1 39861691 39877935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0754,MACF1 chr1 39861691 39877935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0754,MACF1 chr13 98623848 98624745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO5 chr13 98640834 98641246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO5 chr13 98641034 98641240 Gain and loss Pancreatic cancer SNP array 17952125 IPO5 chr13 98651029 98836682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FARP1,IPO5,RNF113B chr13 98651029 98836682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP1,IPO5,RNF113B chr13 98651081 98836682 Gain and loss Pancreatic cancer SNP array 17952125 FARP1,IPO5,RNF113B chr13 98651109 98836682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FARP1,IPO5,RNF113B chr13 98655963 98656204 Gain and loss Pancreatic cancer SNP array 17952125 IPO5 chr13 98655963 98656286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO5 chr13 98655963 98656295 Gain and loss Pancreatic cancer SNP array 17952125 IPO5 chr13 98665627 98666013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPO5 chr13 98665627 98666016 Gain and loss Pancreatic cancer SNP array 17952125 IPO5 chr1 39868640 40949053 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BMP8A,BMP8B,CAP1,COL9A2,HEYL,HPCAL4,KIAA0754,MACF1,MFSD2A,MYCL1,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,PPT1,RLF,SMAP2,SNORA55,TMCO2,TRIT1,ZMPSTE24,ZNF642,ZNF643 chr13 98704969 98711999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98704969 98711999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98704973 98711999 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 98704973 98711999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 98735083 105440688 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A2LD1,BIVM,BIVM-ERCC5,CCDC168,CLYBL,DOCK9,ERCC5,FARP1,FGF14,FGF14-AS2,FGF14-IT1,FKSG29,GPR18,GPR183,ITGBL1,KDELC1,METTL21C,METTL21CP1,MIR2681,MIR3170,MIR4306,MIR4705,MIR548AN,MIR548AS,MIR623,NALCN,NALCN-AS1,PCCA,PCCA-AS1,RNF113B,SLC10A2,SLC15A1,STK24,TEX30,TM9SF2,TMTC4,TPP2,UBAC2,UBAC2-AS1,ZIC2,ZIC5 chr1 39873623 39898678 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0754,MACF1 chr13 98744789 98757695 Gain or loss Breast cancer - 20668451 NOT_FOUND chr13 98744789 98757695 Gain or loss Cancer - 20668451 NOT_FOUND chr13 98744789 98757695 Gain or loss Lung cancer - 20668451 NOT_FOUND chr13 98744789 98757695 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr13 98744789 98757695 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr13 98744789 98757695 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr13 98744791 98757695 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 98744791 98757695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98744791 98757695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 98744791 98757695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 98806386 98806483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP1 chr13 98809722 98809795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FARP1 chr13 98812219 99120410 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 FARP1,MIR3170,RNF113B,STK24 chr13 98822428 98822941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP1 chr13 98849297 98865234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FARP1,MIR3170 chr13 98856520 98879985 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FARP1,MIR3170 chr13 98857914 98880612 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 FARP1,MIR3170 chr13 98858036 98859317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP1 chr13 98862742 98862819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FARP1 chr1 39892996 39923626 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr1 39894236 40329525 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BMP8A,BMP8B,HEYL,HPCAL4,MACF1,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,SNORA55,TRIT1 chr13 98951672 99013635 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FARP1 chr13 98951672 99013635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FARP1 chr13 98951672 99013635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP1 chr13 98951729 99013279 Gain and loss Pancreatic cancer SNP array 17952125 FARP1 chr1 39897380 39910297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MACF1 chr1 39897380 39910297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr1 39897380 39910297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr13 98986574 98986651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP1 chr13 98986587 98986651 Gain and loss Pancreatic cancer SNP array 17952125 FARP1 chr13 99032961 99033435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP1 chr1 39904467 39906020 Gain and loss Pancreatic cancer SNP array 17952125 MACF1 chr13 99056924 99342825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FARP1,SLC15A1,STK24 chr13 99056924 99342825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP1,SLC15A1,STK24 chr13 99056924 99359714 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FARP1,SLC15A1,STK24 chr13 99056937 99359714 Gain and loss Pancreatic cancer SNP array 17952125 FARP1,SLC15A1,STK24 chr1 39907605 40263248 Amplification Cancer Affymetrix 250K Sty array 20164920 BMP8A,BMP8B,HEYL,HPCAL4,MACF1,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,SNORA55 chr13 99088088 99088188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FARP1 chr13 99101302 99101402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FARP1 chr13 99144031 99144131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK24 chr1 39917249 39929676 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MACF1 chr1 39917249 39929676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr1 39917249 39929676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACF1 chr13 99187397 99187449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STK24 chr13 99192406 99863552 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DOCK9,SLC15A1,STK24,UBAC2,UBAC2-AS1 chr13 99194494 99194594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK24 chr13 99197070 99197159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK24 chr13 99210731 99210831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK24 chr13 99234112 99234237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 99234112 99234238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 99234112 99234238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 99234310 99234412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 99234310 99234412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 99279522 99320935 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr13 99300000 101700000 Loss Mantle cell lymphoma Array CGH 19029149 A2LD1,CLYBL,DOCK9,FKSG29,GPR18,GPR183,MIR4306,MIR548AN,MIR623,NALCN-AS1,PCCA,PCCA-AS1,SLC15A1,TM9SF2,TMTC4,UBAC2,UBAC2-AS1,ZIC2,ZIC5 chr1 39937918 39937987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACF1 chr13 99382139 99382333 Gain and loss Pancreatic cancer SNP array 17952125 SLC15A1 chr13 99382139 99382333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC15A1 chr13 99403701 99454300 Copy number Normal ReadDepth: A Parallel R Package 21305028 DOCK9,SLC15A1 chr13 99405001 99442500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr13 99413276 99422179 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 99413276 99422179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 99413276 99422179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 99415452 99422179 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 99423956 99468838 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DOCK9 chr13 99432052 99437019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr13 99432052 99437019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 99432052 99437019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 99432319 99437020 Microdeletion ATP synthase deficiency mitochondrial oligonucleotide microarray (h-MitoArray) 18221507 NOT_FOUND chr13 99432319 99437020 Microdeletion Holoprosencephaly FISH 16199538 NOT_FOUND chr13 99432320 99437019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr13 99478024 99478429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK9 chr13 99480449 99480537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK9 chr13 99512551 99513856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK9 chr13 99536036 100024049 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DOCK9,FKSG29,GPR18,GPR183,MIR548AN,MIR623,UBAC2,UBAC2-AS1 chr13 99536036 100024049 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 DOCK9,FKSG29,GPR18,GPR183,MIR548AN,MIR623,UBAC2,UBAC2-AS1 chr13 99536036 100024049 Gain or loss Breast cancer - 20668451 DOCK9,FKSG29,GPR18,GPR183,MIR548AN,MIR623,UBAC2,UBAC2-AS1 chr13 99536036 100024049 Gain or loss Cancer - 20668451 DOCK9,FKSG29,GPR18,GPR183,MIR548AN,MIR623,UBAC2,UBAC2-AS1 chr13 99536036 100024049 Gain or loss Lung cancer - 20668451 DOCK9,FKSG29,GPR18,GPR183,MIR548AN,MIR623,UBAC2,UBAC2-AS1 chr13 99536036 100024049 Gain or loss Ovarian cancer - 20668451 DOCK9,FKSG29,GPR18,GPR183,MIR548AN,MIR623,UBAC2,UBAC2-AS1 chr13 99536036 100024049 Gain or loss Pancreas cancer - 20668451 DOCK9,FKSG29,GPR18,GPR183,MIR548AN,MIR623,UBAC2,UBAC2-AS1 chr13 99536036 100024049 Gain or loss Prostate cancer - 20668451 DOCK9,FKSG29,GPR18,GPR183,MIR548AN,MIR623,UBAC2,UBAC2-AS1 chr13 99539338 99980687 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DOCK9,GPR18,GPR183,MIR548AN,UBAC2,UBAC2-AS1 chr13 99539338 99980687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK9,GPR18,GPR183,MIR548AN,UBAC2,UBAC2-AS1 chr13 99539338 99980687 Gain and loss Pancreatic cancer SNP array 17952125 DOCK9,GPR18,GPR183,MIR548AN,UBAC2,UBAC2-AS1 chr13 99539338 99980687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK9,GPR18,GPR183,MIR548AN,UBAC2,UBAC2-AS1 chr1 39956287 39956415 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 39956287 39956855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr13 99600772 99601347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK9 chr13 99707290 99841672 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 DOCK9 chr1 39975822 40018270 Gain and loss Pancreatic cancer SNP array 17952125 BMP8A,PPIEL chr13 99764994 99765221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 39977117 40002173 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BMP8A,PPIEL chr1 39977117 40002173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMP8A,PPIEL chr1 39977117 40002173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMP8A,PPIEL chr13 99869387 99869479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AN,UBAC2 chr13 99890279 102495395 LOH Normal High-resolution SNP genotyping 21211785 A2LD1,CLYBL,FGF14,FKSG29,GPR18,GPR183,ITGBL1,MIR4306,MIR548AN,MIR623,NALCN,NALCN-AS1,PCCA,PCCA-AS1,TM9SF2,TMTC4,UBAC2,ZIC2,ZIC5 chr1 39991001 40059000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BMP8A,PABPC4,PPIEL,SNORA55 chr13 99919152 99920454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AN,UBAC2 chr13 99928030 99928123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AN,UBAC2 chr1 39996490 40027120 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PABPC4,PPIEL chr1 39996490 40027120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PABPC4,PPIEL chr1 39996490 40027120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PABPC4,PPIEL chr13 99980520 100039047 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FKSG29,MIR548AN,MIR623,UBAC2 chr13 99980520 100039047 Gain and loss Pancreatic cancer SNP array 17952125 FKSG29,MIR548AN,MIR623,UBAC2 chr13 99980520 100039047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FKSG29,MIR548AN,MIR623,UBAC2 chr13 99990071 99990529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548AN,UBAC2 chr1 40004659 40004702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPIEL chr1 40007782 40009607 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPIEL chr1 40007782 40009607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPIEL chr1 40007782 40009607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIEL chr1 40016333 40016442 Gain and loss Pancreatic cancer SNP array 17952125 PPIEL chr1 40016333 40016443 Gain and loss Pancreatic cancer SNP array 17952125 PPIEL chr1 40030198 40036659 Gain and loss Pancreatic cancer SNP array 17952125 PABPC4,SNORA55 chr1 40034102 40034255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PABPC4 chr1 40063283 40677383 Copy number Schizophrenia - 18511947 BMP8B,CAP1,HEYL,HPCAL4,MFSD2A,MYCL1,NT5C1A,OXCT2,PPIE,PPT1,RLF,TRIT1 chr1 40064229 40076575 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 40079295 40121765 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HEYL chr1 40079295 40121765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEYL chr1 40079295 40121765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEYL chr1 40079657 40079763 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40088475 41074260 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BMP8B,CAP1,COL9A2,DEM1,HEYL,HPCAL4,MFSD2A,MYCL1,NT5C1A,OXCT2,PPIE,PPT1,RLF,SMAP2,TMCO2,TRIT1,ZMPSTE24,ZNF642,ZNF643,ZNF684 chr1 40089903 40104720 Gain and loss Pancreatic cancer SNP array 17952125 HEYL chr1 40097312 40098169 Gain and loss Pancreatic cancer SNP array 17952125 HEYL chr14 0 0 Deletion Usher type I cohort Semiquantitative PCR and multiplex ligation-dependent probe amplification (MLPA) 21436283 NOT_FOUND chr1 40100000 44100000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 BMP8B,C1orf210,C1orf50,CAP1,CCDC23,CCDC30,CDC20,CITED4,CLDN19,COL9A2,CTPS1,DEM1,EBNA1BP2,EDN2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HEYL,HIVEP3,HPCAL4,HYI,KCNQ4,LEPRE1,LOC100129924,LOC100130557,MED8,MFSD2A,MIR30C1,MIR30E,MPL,MYCL1,NFYC,NT5C1A,OXCT2,PPCS,PPIE,PPIH,PPT1,PTPRF,RIMKLA,RIMS3,RLF,SCMH1,SLC2A1,SLC2A1-AS1,SLFNL1,SLFNL1-AS1,SMAP2,SZT2,TIE1,TMCO2,TMEM125,TRIT1,WDR65,YBX1,ZMPSTE24,ZMYND12,ZNF642,ZNF643,ZNF684,ZNF691 chr1 40119825 40119937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40133685 40140274 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NT5C1A chr1 40133685 40140274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NT5C1A chr1 40133685 40140274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NT5C1A chr1 40134001 40212000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPCAL4,NT5C1A,PPIE chr1 4013501 4024000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 40139680 40139780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 40175521 40207413 Gain and loss Pancreatic cancer SNP array 17952125 PPIE chr1 40177947 40178030 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 40183149 40183257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40193397 40208214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPIE chr1 40193407 40208214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPIE chr1 40193407 40208214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIE chr1 40200939 40201663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40201136 40206643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPIE chr1 40207478 40232061 Gain and loss Pancreatic cancer SNP array 17952125 BMP8B,PPIE chr1 4024001 4136000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 40260928 40297273 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 40278492 40310908 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIT1 chr1 40278492 40310908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIT1 chr1 40278492 40310908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIT1 chr1 4028404 6333694 Deletion Glioblastoma multiforme Array CGH 19115005 ACOT7,AJAP1,CHD5,GPR153,HES3,ICMT,KCNAB2,LOC284661,MIR4417,MIR4689,NPHP4,RNF207,RPL22 chr1 40296154 40375684 Gain and loss Pancreatic cancer SNP array 17952125 MYCL1,TRIT1 chr1 40309738 40309818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIT1 chr1 40310972 40335555 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIT1 chr1 40310972 40335555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIT1 chr1 40310972 40335555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIT1 chr1 40312608 40312714 Gain and loss Pancreatic cancer SNP array 17952125 TRIT1 chr1 40341981 40342081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIT1 chr1 40368509 40368617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40368510 40368617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40371021 40371708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40382759 40386359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40392872 40428944 Gain and loss Pancreatic cancer SNP array 17952125 MFSD2A chr1 40399628 40479179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MFSD2A chr1 40399628 40479179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFSD2A chr1 40399648 40479178 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MFSD2A chr1 40416102 40416208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40435256 40452032 Gain and loss Pancreatic cancer SNP array 17952125 MFSD2A chr1 40467841 40468323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40472003 40472113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40486160 40489950 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 40486160 40489950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40486160 40489950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40496320 40532443 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CAP1 chr1 40496320 40532443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAP1 chr1 40496320 40532443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAP1 chr1 40500931 40501243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40508821 40558085 Gain and loss Pancreatic cancer SNP array 17952125 CAP1,PPT1 chr1 40524566 40524666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAP1 chr1 40534435 40582445 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CAP1,PPT1 chr1 40538749 40555647 Deletion Normal References 22138850 PPT1 chr1 40538749 40555647 Deletion Oculoskeletal dysplasia References 22138850 PPT1 chr1 40538750 40556075 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPT1 chr1 40538750 40556075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPT1 chr1 40538750 40556075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPT1 chr1 40540501 40553500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPT1 chr1 4055007 4055320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 40551605 40551705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPT1 chr1 40553501 40556000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPT1 chr1 4056522 10472147 Loss Neuroblastoma aCGH 20406844 ACOT7,AJAP1,C1orf200,CA6,CAMTA1,CHD5,CLSTN1,CTNNBIP1,DNAJC11,ENO1,ENO1-AS1,ERRFI1,ESPN,GPR153,GPR157,H6PD,HES2,HES3,ICMT,KCNAB2,KIF1B,KLHL21,LOC284661,LZIC,MIR34A,MIR4252,MIR4417,MIR4689,NMNAT1,NOL9,NPHP4,PARK7,PER3,PGD,PHF13,PIK3CD,PLEKHG5,RBP7,RERE,RNF207,RPL22,SLC25A33,SLC2A5,SLC2A7,SLC45A1,SPSB1,TAS1R1,THAP3,TMEM201,TNFRSF25,TNFRSF9,UBE4B,UTS2,VAMP3,ZBTB48 chr1 40571335 40571817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40584872 40598479 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40603027 40603441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40611978 40631027 Gain and loss Pancreatic cancer SNP array 17952125 RLF chr1 40612315 40661585 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RLF chr1 40612315 40661585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RLF chr1 40612315 40661585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RLF chr1 40643526 40651321 Gain and loss Pancreatic cancer SNP array 17952125 RLF chr1 40666326 40682929 Gain and loss Pancreatic cancer SNP array 17952125 RLF chr1 40683565 40683656 Amplification Acute myeloid leukemia BAC aCGH 20962326 RLF chr1 40686494 40686582 Amplification Acute myeloid leukemia BAC aCGH 20962326 RLF chr1 40688366 40701975 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RLF chr1 40688366 40701975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RLF chr1 40688366 40701975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RLF chr1 40710846 40711321 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NOT_FOUND chr1 40715474 40734602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMCO2,ZMPSTE24 chr1 40715474 40734602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO2,ZMPSTE24 chr1 40715474 40734602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO2,ZMPSTE24 chr1 40721238 40721338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 40731169 40738766 Loss Normal Birdsuite, version 1.5.2 22087296 ZMPSTE24 chr1 40734934 40735349 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMPSTE24 chr1 40738766 40742251 Loss Normal Birdsuite, version 1.5.2 22087296 ZMPSTE24 chr1 40739360 40743158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMPSTE24 chr1 40740139 40743009 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 ZMPSTE24 chr1 40740139 40743009 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZMPSTE24 chr1 40741565 40741732 Gain and loss Pancreatic cancer SNP array 17952125 ZMPSTE24 chr1 40747000 40754799 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZMPSTE24 chr1 40747000 40754799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMPSTE24 chr1 40747000 40754799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMPSTE24 chr1 40749661 40783026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COL9A2,ZMPSTE24 chr1 40755445 40800421 Gain and loss Pancreatic cancer SNP array 17952125 COL9A2,ZMPSTE24 chr1 40758951 40759051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMPSTE24 chr1 40769820 40786423 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COL9A2 chr1 40769820 40786423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL9A2 chr1 40769820 40786423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL9A2 chr1 40801793 40801918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40826388 40826774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40826458 40906368 Gain and loss Pancreatic cancer SNP array 17952125 SMAP2 chr1 40831892 40832612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40845059 40845226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAP2 chr1 40858939 40903915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMAP2 chr1 40858939 40903915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMAP2 chr1 40858939 40903915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAP2 chr1 40860001 40887000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMAP2 chr1 40862387 40862472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMAP2 chr1 40881036 40881141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMAP2 chr1 40887001 40888500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMAP2 chr1 40889120 40889211 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40889135 40889198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40892049 40892137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40892964 40924643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF643 chr1 40915026 40915126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 40918777 40975216 Gain and loss Pancreatic cancer SNP array 17952125 DEM1,ZNF642,ZNF643 chr1 40929882 40930268 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 40929882 40930268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40929952 41009864 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DEM1,ZNF642,ZNF684 chr1 40929965 41009864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEM1,ZNF642,ZNF684 chr1 40929965 41009864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEM1,ZNF642,ZNF684 chr1 40939608 40939906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40939609 40939906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 40950961 41009843 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 DEM1,ZNF642,ZNF684 chr1 40982558 40982658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 40992614 40992705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40995543 40995631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 40996338 40996892 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100012085 100012185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC85C chr14 100017043 100017363 Gain and loss Pancreatic cancer SNP array 17952125 CCDC85C chr14 100029514 100029546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC85C chr14 100065001 100118000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC85C,HHIPL1 chr14 100073243 100105884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100073243 100105884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100073243 100105884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100118001 100413500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP46A1,EML1,HHIPL1,MIR5698 chr14 100139308 100139377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHIPL1 chr14 100177043 100211631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP46A1 chr14 100191000 100191086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP46A1 chr14 100193340 100208865 Gain and loss Pancreatic cancer SNP array 17952125 CYP46A1 chr14 100193358 100208834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP46A1 chr14 100193358 100208834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP46A1 chr14 100212289 100212389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 100262917 100271210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100262917 100271210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100263005 100271229 Gain or loss Breast cancer - 20668451 EML1 chr14 100263005 100271229 Gain or loss Cancer - 20668451 EML1 chr14 100263005 100271229 Gain or loss Lung cancer - 20668451 EML1 chr14 100263005 100271229 Gain or loss Ovarian cancer - 20668451 EML1 chr14 100263005 100271229 Gain or loss Pancreas cancer - 20668451 EML1 chr14 100263005 100271229 Gain or loss Prostate cancer - 20668451 EML1 chr14 100263006 100271210 Gain and loss Pancreatic cancer SNP array 17952125 EML1 chr14 100264813 100298541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EML1 chr14 100284454 100284542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML1 chr14 100355609 100355704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML1 chr14 100362216 100397098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100362223 100397111 Gain and loss Pancreatic cancer SNP array 17952125 EML1 chr14 100364819 100365290 Gain and loss Pancreatic cancer SNP array 17952125 EML1 chr14 100366695 100397111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100369059 100397111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100369059 100397111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100382328 100382534 Gain and loss Pancreatic cancer SNP array 17952125 EML1 chr14 100388480 100388577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100393335 100397108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100393335 100397108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100400000 102200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BEGAIN,DEGS2,DIO3,DIO3OS,DLK1,EML1,EVL,LINC00239,LINC00523,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,RTL1,SLC25A29,SLC25A47,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,WARS,WDR25,YY1 chr14 100400000 102200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BEGAIN,DEGS2,DIO3,DIO3OS,DLK1,EML1,EVL,LINC00239,LINC00523,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,RTL1,SLC25A29,SLC25A47,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,WARS,WDR25,YY1 chr14 100400000 102200000 Gain Barrett's adenocarcinoma FISH 18663352 BEGAIN,DEGS2,DIO3,DIO3OS,DLK1,EML1,EVL,LINC00239,LINC00523,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,RTL1,SLC25A29,SLC25A47,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,WARS,WDR25,YY1 chr14 100400000 106368585 Deletion Non-small cell lung cancer Array comparative genomic hybridization 21044232 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BEGAIN,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 100400000 106368585 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BEGAIN,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 100400000 106368585 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BEGAIN,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 100403901 100408200 Deletion Glioma mate-paired sequence 20126413 EML1 chr14 100405150 100405238 Amplification Acute myeloid leukemia BAC aCGH 20962326 EML1 chr14 100405150 100405238 Gain and loss Pancreatic cancer SNP array 17952125 EML1 chr14 100405150 100405238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML1 chr14 100410583 100410675 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100410583 100410675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100411123 100411194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100413501 100417500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 100417066 100419306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100417097 100417210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100417097 100417210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100417501 100441500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 100417906 100418988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100417973 100418096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100417976 100418068 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr14 100419069 100419165 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr14 100419069 100419165 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100419069 100419165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100420573 100420666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100420573 100420666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100420787 100420878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100420792 100420873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100421804 100421889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 100429018 100430399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100439687 100439806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100441501 100448000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 100447229 100447303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100447229 100447303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100454378 100534737 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EVL chr14 100456158 100456223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 100460911 100460982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100460914 100460982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100463432 100463503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100466009 100466080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100466009 100466080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100472581 100472655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100472581 100472655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100474277 100474354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100474277 100474354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100475646 100475720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100475646 100475720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100477216 100477292 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100477216 100477292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100479541 100479614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100479541 100479614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100481739 100481810 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100481739 100481810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100485923 100485994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100485923 100485994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100487548 100487614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 100487946 100488023 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100487946 100488023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100489439 100489513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100489439 100489513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100490464 100490538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100490464 100490538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100491460 100491529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100491460 100491529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100492330 100492402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100492330 100492402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100493256 100493327 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100493256 100493327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100499144 100499220 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100499144 100499220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100500870 100500942 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100500870 100500942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100502119 100502190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100502119 100502190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100503142 100503213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100503142 100503213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100504201 100504275 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100504201 100504275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100505038 100505112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100505038 100505112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100505969 100506042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100505969 100506042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100508193 100508267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100508193 100508267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100508760 100508831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100508760 100508831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100509685 100509754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100509685 100509754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100510896 100510970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100510896 100510970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100511915 100511986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100511915 100511986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100512567 100512641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100512567 100512641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100513479 100513555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100513479 100513555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100515092 100515180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100515092 100515180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100516082 100516156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100516082 100516156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100517094 100517165 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100517094 100517165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100518065 100518136 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100518065 100518136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100519016 100519087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100519016 100519087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100519966 100520037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100519966 100520037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100520867 100520938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100520867 100520938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100522147 100522218 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100522147 100522218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100523136 100523207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100523136 100523207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100524251 100524320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100524251 100524320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100524936 100524968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 100525220 100525291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100525220 100525291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100526181 100526250 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100526181 100526250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100528009 100528080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100528009 100528080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100529326 100529400 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100529326 100529400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100530347 100530420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100534186 100534286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EVL chr14 100534557 100534631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100537501 100541500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EVL chr14 100537783 100569601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EVL chr14 100539042 100542709 Amplification or deletion Cancer Array CGH 17440070 EVL chr14 100541501 100545000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EVL chr14 100545001 100546500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EVL chr14 100548556 100548656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EVL chr14 100554501 100669000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DEGS2,EVL chr14 100558156 100558222 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100558156 100558222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100559415 100559496 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100559415 100559510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100559884 100559946 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100559884 100559946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100561107 100561167 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100561107 100561167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100561654 100561741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100561822 100561907 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100561822 100561907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100562110 100562197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100562873 100562956 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100562875 100562954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100563190 100563273 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100563190 100563273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100565724 100565804 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100565724 100565804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100565724 100565806 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100566110 100566230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100568073 100568154 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100568077 100568154 Amplification Acute myeloid leukemia BAC aCGH 20962326 EVL chr14 100568077 100568154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100569845 100569926 Amplification Acute myeloid leukemia BAC aCGH 20962326 EVL chr14 100569845 100569926 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100569845 100569926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100575480 100575580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EVL chr14 100575780 100575845 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100576158 100576239 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100576309 100576389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100576537 100576618 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100577453 100577535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100579067 100579152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100579826 100579926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EVL chr14 100580288 100580373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100582010 100582084 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100582010 100582084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100582545 100582628 Amplification Acute myeloid leukemia BAC aCGH 20962326 EVL chr14 100582545 100582628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100583411 100583488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100583991 100584069 Amplification Acute myeloid leukemia BAC aCGH 20962326 EVL chr14 100583991 100584069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100584748 100584838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100585640 100585736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100588536 100588615 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100588536 100588615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100588536 100588617 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100590392 100590475 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100590396 100590471 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100590396 100590471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100590777 100590849 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100590777 100590849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100591348 100591413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100591509 100591581 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100591509 100591581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100592280 100592359 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100592280 100592359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100595845 100595928 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100595845 100595928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100596663 100596764 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100596663 100596764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100598140 100598208 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100598140 100598208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100600585 100600668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100601390 100601468 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100601390 100601468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100601537 100601627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100601540 100601620 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100601688 100601757 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100601688 100601757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100602001 100602081 Gain and loss Pancreatic cancer SNP array 17952125 EVL chr14 100602002 100602081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100602814 100602891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVL chr14 100681570 100681785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100681571 100681785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 100681571 100681785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 100682714 100682773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 100709501 100739500 Copy number Normal ReadDepth: A Parallel R Package 21305028 YY1 chr14 100732657 100732768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YY1 chr14 100756001 100760500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A29 chr14 100760501 100792000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR345,SLC25A29,SLC25A47 chr14 100774510 100774610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 100805575 100805656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WARS chr14 100822507 100827081 Gain Normal 244K array 17666407 WARS chr14 100835596 100846823 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 WARS,WDR25 chr14 100894001 100907500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDR25 chr14 100911050 100911130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR25 chr14 100948412 100948475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR25 chr14 100993001 101041500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BEGAIN,WDR25 chr14 101004515 106356482 Loss Developmental delay affymetrix genechip 500K/SNP 6.62 array 21147756 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BEGAIN,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EXOC3L4,GPR132,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SIVA1,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WDR20,XRCC3,ZBTB42,ZFYVE21,ZNF839 chr14 101025107 101025177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BEGAIN chr14 101041501 101100500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 101052044 101052144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101060620 101060955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 101061232 101061304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101071276 101071354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101093444 101093850 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101093444 101093850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101096377 101096512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101097441 101099540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101097665 101098501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101100501 101172500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00523 chr14 101142868 101142936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101154548 101154590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101160790 101160857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101172501 102027500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIO3OS,DLK1,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101212224 103418223 LOH Normal High-resolution SNP genotyping 21211785 AMN,ANKRD9,CDC42BPB,CINP,DIO3,DIO3OS,DYNC1H1,HSP90AA1,LINC00239,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,PPP2R5C,RCOR1,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TECPR2,TRAF3,WDR20,ZNF839 chr14 101262321 102307396 LOH Normal High-resolution SNP genotyping 21211785 DIO3,DIO3OS,LINC00239,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,PPP2R5C,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101286955 101287033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101297951 101463830 Gain or loss Breast cancer - 20668451 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101297951 101463830 Gain or loss Cancer - 20668451 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101297951 101463830 Gain or loss Lung cancer - 20668451 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101297951 101463830 Gain or loss Ovarian cancer - 20668451 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101297951 101463830 Gain or loss Pancreas cancer - 20668451 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101297951 101463830 Gain or loss Prostate cancer - 20668451 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101297952 101357172 Gain and loss Pancreatic cancer SNP array 17952125 MEG3,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1 chr14 101297975 101463828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101297975 101463828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101301367 101301403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEG3 chr14 101339317 101339421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101339317 101339421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101345925 101463828 Gain and loss Pancreatic cancer SNP array 17952125 MEG8,MIR127,MIR136,MIR431,MIR432,MIR433,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101345925 101463831 Amplification T-cell lymphomas Array-CGH 22341440 MEG8,MIR127,MIR136,MIR431,MIR432,MIR433,RTL1,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 chr14 101351381 101351481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101357058 101357158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101365918 101366001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEG8 chr14 101376218 101376318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101400000 103200000 Loss Meningioma Array CGH 18628790 ANKRD9,CINP,DIO3,DIO3OS,DYNC1H1,HSP90AA1,LINC00239,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR134,MIR154,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR485,MIR487A,MIR487B,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR668,MIR758,MIR889,MOK,PPP2R5C,RCOR1,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TECPR2,WDR20,ZNF839 chr14 101423847 101423947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101459896 101460017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 101471840 101471917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101476085 101476165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101480000 102100000 Loss Breast cancer aCGH 21509527 DIO3,DIO3OS,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR134,MIR154,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR485,MIR487A,MIR487B,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR654,MIR655,MIR656,MIR668,MIR758,MIR889 chr14 101486906 101487002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101490785 101490880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101500734 101586888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEG9,MIR1185-1,MIR1185-2,MIR134,MIR154,MIR300,MIR323B,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR381,MIR382,MIR409,MIR410,MIR412,MIR485,MIR487A,MIR487B,MIR496,MIR539,MIR541,MIR654,MIR655,MIR656,MIR668,MIR889 chr14 101500734 101586888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEG9,MIR1185-1,MIR1185-2,MIR134,MIR154,MIR300,MIR323B,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR381,MIR382,MIR409,MIR410,MIR412,MIR485,MIR487A,MIR487B,MIR496,MIR539,MIR541,MIR654,MIR655,MIR656,MIR668,MIR889 chr14 101500737 101586887 Amplification T-cell lymphomas Array-CGH 22341440 MEG9,MIR1185-1,MIR1185-2,MIR134,MIR154,MIR300,MIR323B,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR381,MIR382,MIR409,MIR410,MIR412,MIR485,MIR487A,MIR487B,MIR496,MIR539,MIR541,MIR654,MIR655,MIR656,MIR668,MIR889 chr14 101500737 101586887 Gain and loss Pancreatic cancer SNP array 17952125 MEG9,MIR1185-1,MIR1185-2,MIR134,MIR154,MIR300,MIR323B,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR381,MIR382,MIR409,MIR410,MIR412,MIR485,MIR487A,MIR487B,MIR496,MIR539,MIR541,MIR654,MIR655,MIR656,MIR668,MIR889 chr14 101541020 101541060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101550327 101584469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 101569155 102837155 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 CINP,DIO3,DIO3OS,DYNC1H1,HSP90AA1,LINC00239,MIR1247,MOK,PPP2R5C,TECPR2,WDR20,ZNF839 chr14 101581481 101581547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 101604950 101638446 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 101613270 101613559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101613270 101613559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101613273 101613563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101616827 101675839 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 101616827 101675839 Gain or loss Cancer - 20668451 NOT_FOUND chr14 101616827 101675839 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 101616827 101675839 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 101616827 101675839 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 101616827 101675839 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 101617139 101675494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101617139 101675494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101617139 101675776 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101617145 101623135 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 101619009 102408085 Loss Bladder cancer array-CGH 21909424 DIO3,DIO3OS,LINC00239,MIR1247,PPP2R5C chr14 101675965 101759757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101675965 101759760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101675965 101759760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101675965 101759763 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 101714603 101714673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101730003 101731717 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 101737162 101782674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 101762375 101841284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101762375 101841284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101762375 101841284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101764932 101841284 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 101772081 101781993 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr14 101841352 101841422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101853467 101878457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101855848 101878269 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 NOT_FOUND chr14 101855849 101878797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101855849 101878797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101871839 101878703 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 101878709 101899006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101880826 101880926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 101884374 101899006 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 101884376 101899006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101884376 101899006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101894890 101894992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101894890 101894992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101899031 102038562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIO3,DIO3OS,MIR1247 chr14 101899031 102038562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIO3,DIO3OS,MIR1247 chr14 101899053 102034347 Gain and loss Pancreatic cancer SNP array 17952125 DIO3,DIO3OS,MIR1247 chr14 101899053 102038570 Amplification T-cell lymphomas Array-CGH 22341440 DIO3,DIO3OS,MIR1247 chr1 41019001 41055500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 101910334 101910409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 101910334 101910409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 101946361 101947820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 102027501 102097500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIO3 chr14 102037766 102037864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 102037766 102037869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 102042936 102044907 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 102042936 102044907 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 102042951 102045881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 102042951 102045881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 102059962 102060022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 102080242 102081242 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 102097072 102098072 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 102111610 102112610 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 102118978 102119262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 102118978 102119262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 102118980 102119267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 102128986 102262596 Amplification T-cell lymphomas Array-CGH 22341440 LINC00239,PPP2R5C chr14 102128986 102262596 Gain and loss Pancreatic cancer SNP array 17952125 LINC00239,PPP2R5C chr14 102128986 102266665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00239,PPP2R5C chr14 102128986 102266665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00239,PPP2R5C chr14 102132449 102139529 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 102135076 102136076 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 102137421 102166739 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 102139231 102140231 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 102186201 102186301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 102198032 102198110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00239 chr14 102198330 102198798 Gain and loss Pancreatic cancer SNP array 17952125 LINC00239 chr14 102200000 103000000 Amplification Normal Refference 21823210 ANKRD9,CINP,DYNC1H1,HSP90AA1,MOK,PPP2R5C,TECPR2,WDR20,ZNF839 chr14 102200000 103000000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ANKRD9,CINP,DYNC1H1,HSP90AA1,MOK,PPP2R5C,TECPR2,WDR20,ZNF839 chr1 41022271 41076947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 41022271 41076947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 41022271 41076947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 102231478 102231583 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R5C chr14 102231478 102231584 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R5C chr14 102231478 102231585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5C chr14 102266836 102529968 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DYNC1H1,PPP2R5C chr14 102273001 102297500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP2R5C chr14 102313568 102442381 Gain or loss Breast cancer - 20668451 DYNC1H1,PPP2R5C chr14 102313568 102442381 Gain or loss Cancer - 20668451 DYNC1H1,PPP2R5C chr14 102313568 102442381 Gain or loss Lung cancer - 20668451 DYNC1H1,PPP2R5C chr14 102313568 102442381 Gain or loss Ovarian cancer - 20668451 DYNC1H1,PPP2R5C chr14 102313568 102442381 Gain or loss Pancreas cancer - 20668451 DYNC1H1,PPP2R5C chr14 102313568 102442381 Gain or loss Prostate cancer - 20668451 DYNC1H1,PPP2R5C chr14 102313569 102442381 Amplification T-cell lymphomas Array-CGH 22341440 DYNC1H1,PPP2R5C chr14 102313569 102442381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYNC1H1,PPP2R5C chr14 102313569 102442381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYNC1H1,PPP2R5C chr14 102320080 102321080 Gain Chordoma References 21215367 PPP2R5C chr14 102325583 102325681 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R5C chr14 102325583 102325681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5C chr14 102349253 102349306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP2R5C chr14 102361748 102920870 LOH Normal High-resolution SNP genotyping 21211785 CINP,DYNC1H1,HSP90AA1,MOK,PPP2R5C,TECPR2,WDR20,ZNF839 chr14 102401946 102402052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 102401946 102402053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 102406292 102441874 Gain and loss Pancreatic cancer SNP array 17952125 DYNC1H1 chr14 102415711 102415828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 102438001 102469000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYNC1H1 chr14 102458747 102467282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYNC1H1 chr14 102458747 102467282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYNC1H1 chr14 102458757 102467282 Amplification T-cell lymphomas Array-CGH 22341440 DYNC1H1 chr14 102458757 102467282 Gain and loss Pancreatic cancer SNP array 17952125 DYNC1H1 chr14 102468470 102593552 Amplification T-cell lymphomas Array-CGH 22341440 DYNC1H1,HSP90AA1 chr14 102468470 102593552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYNC1H1,HSP90AA1 chr14 102468470 102593552 Gain and loss Pancreatic cancer SNP array 17952125 DYNC1H1,HSP90AA1 chr14 102468470 102593552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYNC1H1,HSP90AA1 chr14 102469001 102604000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYNC1H1,HSP90AA1 chr14 102565395 102598331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSP90AA1 chr14 102577081 102609618 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSP90AA1,WDR20 chr14 102577560 102578184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSP90AA1 chr14 102577575 102578184 Gain and loss Pancreatic cancer SNP array 17952125 HSP90AA1 chr14 102604001 102621000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSP90AA1,WDR20 chr14 102621001 102671500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDR20 chr14 102636234 102646645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR20 chr14 102636234 102646645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR20 chr14 102636294 102646313 Amplification T-cell lymphomas Array-CGH 22341440 WDR20 chr14 102645337 102645779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDR20 chr14 102645485 103622269 LOH Normal High-resolution SNP genotyping 21211785 AMN,ANKRD9,CDC42BPB,CINP,EXOC3L4,MIR4309,MOK,RCOR1,TECPR2,TNFAIP2,TRAF3,WDR20,ZNF839 chr14 102662417 102673529 Amplification T-cell lymphomas Array-CGH 22341440 WDR20 chr14 102662417 102673529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR20 chr14 102662417 102673529 Gain and loss Pancreatic cancer SNP array 17952125 WDR20 chr14 102662417 102673529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR20 chr14 102668074 102668133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDR20 chr14 102671501 102763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MOK,WDR20 chr14 102684687 102778062 Gain and loss Pancreatic cancer SNP array 17952125 MOK,WDR20 chr14 102717623 102717713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MOK chr14 102729021 102734355 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 MOK chr14 102763001 102769500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MOK chr14 102797823 102799500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF839 chr14 102819264 102819539 Gain and loss Pancreatic cancer SNP array 17952125 CINP chr14 102824180 106368585 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 102833775 102833878 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TECPR2 chr14 102851096 103622269 LOH Normal High-resolution SNP genotyping 21211785 AMN,ANKRD9,CDC42BPB,EXOC3L4,MIR4309,RCOR1,TECPR2,TNFAIP2,TRAF3 chr14 102853010 102853126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TECPR2 chr14 102853017 102853125 Gain and loss Pancreatic cancer SNP array 17952125 TECPR2 chr14 102853037 102853126 Gain and loss Pancreatic cancer SNP array 17952125 TECPR2 chr14 102870246 102881112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TECPR2 chr14 102870246 102881112 Gain and loss Pancreatic cancer SNP array 17952125 TECPR2 chr14 102870246 102881112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TECPR2 chr14 102870246 102881115 Amplification T-cell lymphomas Array-CGH 22341440 TECPR2 chr14 102873939 102874064 Gain and loss Pancreatic cancer SNP array 17952125 TECPR2 chr14 102873939 102874064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TECPR2 chr14 102900344 102900916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TECPR2 chr14 102900380 102900910 Gain and loss Pancreatic cancer SNP array 17952125 TECPR2 chr14 102910422 102910955 Gain and loss Pancreatic cancer SNP array 17952125 TECPR2 chr14 102921524 103039917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD9,MIR4309,TECPR2 chr14 102921524 103039917 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD9,MIR4309,TECPR2 chr14 102921524 103039917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD9,MIR4309,TECPR2 chr14 102921524 103039921 Amplification T-cell lymphomas Array-CGH 22341440 ANKRD9,MIR4309,TECPR2 chr14 102948209 102948773 Gain and loss Pancreatic cancer SNP array 17952125 TECPR2 chr14 102948209 102948773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TECPR2 chr14 102955917 102956078 Gain and loss Pancreatic cancer SNP array 17952125 TECPR2 chr14 102955917 102956078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TECPR2 chr14 102998572 103032842 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR4309 chr14 103000000 106368585 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Copy number Breast cancer SMRT array 16417655 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Deletion 22q11 deletion syndrome Array-CGH 22511897 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Gain Intracranial ependymoma matrix-based CGH 16609018 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Gain Schizophrenia Affymetrix 6.0 array 21399695 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103000000 106368585 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ADSSL1,AHNAK2,AKT1,AMN,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDC42BPB,CDCA4,CKB,CRIP1,CRIP2,EIF5,ELK2AP,EXOC3L4,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4309,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RCOR1,RD3L,SIVA1,SNORA28,TDRD9,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103041847 103041934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 103046974 103047060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 103051001 103064000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RCOR1 chr14 103055749 103058923 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 103055749 103058923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 103055749 103058923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 103055749 103058923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 103063946 103063978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCOR1 chr14 103064001 103088500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RCOR1 chr14 103065262 103072135 Amplification T-cell lymphomas Array-CGH 22341440 RCOR1 chr14 103065262 103073161 Gain and loss Pancreatic cancer SNP array 17952125 RCOR1 chr14 103065301 103072105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103065301 103072105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103086436 103086496 Gain and loss Pancreatic cancer SNP array 17952125 RCOR1 chr14 103088501 103233500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RCOR1 chr14 103092641 103098904 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 RCOR1 chr14 103092642 103098904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103092642 103098904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103093192 103098383 Amplification T-cell lymphomas Array-CGH 22341440 RCOR1 chr14 103093192 103098734 Gain and loss Pancreatic cancer SNP array 17952125 RCOR1 chr14 103099052 103128261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103099052 103128261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103099084 103128261 Gain and loss Pancreatic cancer SNP array 17952125 RCOR1 chr14 103099084 103128277 Amplification T-cell lymphomas Array-CGH 22341440 RCOR1 chr14 103103495 103103635 Gain and loss Pancreatic cancer SNP array 17952125 RCOR1 chr14 103103495 103103635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103103495 103103638 Gain and loss Pancreatic cancer SNP array 17952125 RCOR1 chr14 103134498 103134598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCOR1 chr14 103148088 103148178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCOR1 chr14 103165277 103237641 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 RCOR1 chr14 103165278 103237640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103165278 103237640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCOR1 chr14 103165317 103247466 Amplification T-cell lymphomas Array-CGH 22341440 RCOR1,TRAF3 chr14 103165327 103237604 Gain and loss Pancreatic cancer SNP array 17952125 RCOR1 chr14 103217278 103482566 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AMN,CDC42BPB,TRAF3 chr14 103233501 103278500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRAF3 chr14 103233708 103251536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAF3 chr14 103233708 103251536 Gain and loss Pancreatic cancer SNP array 17952125 TRAF3 chr14 103233708 103251536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAF3 chr14 103233708 103251549 Amplification T-cell lymphomas Array-CGH 22341440 TRAF3 chr14 103251898 103269752 Amplification T-cell lymphomas Array-CGH 22341440 TRAF3 chr14 103251898 103269753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAF3 chr14 103251898 103269753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAF3 chr14 103251898 103269757 Gain and loss Pancreatic cancer SNP array 17952125 TRAF3 chr14 103269841 103383680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAF3 chr14 103269841 103383680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAF3 chr14 103269842 103383555 Amplification T-cell lymphomas Array-CGH 22341440 TRAF3 chr14 103269842 103383649 Gain and loss Pancreatic cancer SNP array 17952125 TRAF3 chr14 103333362 103333438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAF3 chr14 103333368 103333435 Gain and loss Pancreatic cancer SNP array 17952125 TRAF3 chr14 103341748 103341848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAF3 chr14 103402001 103409000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC42BPB chr14 103409001 103416000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC42BPB chr14 103416001 103436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC42BPB chr14 103436501 103447500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC42BPB chr14 103448380 103457619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPB chr14 103448380 103457619 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPB chr14 103448380 103457619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPB chr14 103464552 103588755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPB,EXOC3L4 chr14 103464552 103588755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42BPB,EXOC3L4 chr14 103491773 103588755 Gain and loss Pancreatic cancer SNP array 17952125 CDC42BPB,EXOC3L4 chr14 103500473 103535093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDC42BPB chr14 103506687 103588755 Amplification T-cell lymphomas Array-CGH 22341440 CDC42BPB,EXOC3L4 chr14 103535734 103535859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 103549732 103550023 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 103549732 103550023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 103567903 103567989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC3L4 chr14 103588286 103588456 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 103609874 105504791 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,C14orf180,C14orf2,C14orf79,CDCA4,CKB,EIF5,INF2,KIAA0284,KIF26A,KLC1,LINC00605,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4710,PLD4,PPP1R13B,RD3L,SIVA1,SNORA28,TDRD9,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103616501 103628000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 103616997 103654231 Amplification T-cell lymphomas Array-CGH 22341440 LINC00605 chr14 103619231 104359729 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 APOPT1,BAG5,CKB,EIF5,KLC1,LINC00605,LINC00637,MARK3,PPP1R13B,SNORA28,TRMT61A,XRCC3,ZFYVE21 chr14 103621776 103643325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 103628001 103651000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 103629306 103648101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 103651001 103656000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00605 chr14 103653495 103653604 Gain and loss Pancreatic cancer SNP array 17952125 LINC00605 chr14 103653495 103653604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00605 chr14 103666501 103766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 103672199 103672860 Loss or gain Normal 244K array 17666407 NOT_FOUND chr14 103674812 103716988 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr14 103674813 103716984 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 103675217 103716984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 103687094 104339848 Gain and loss Pancreatic cancer SNP array 17952125 APOPT1,BAG5,CKB,EIF5,KLC1,LINC00637,MARK3,PPP1R13B,SNORA28,TRMT61A,XRCC3,ZFYVE21 chr14 103701972 103716988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 103744553 103745355 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 103766001 103782500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 103782501 103790500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 103790501 103816500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EIF5,SNORA28 chr14 103812165 103812233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 103816501 103859500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK3 chr14 103818682 103818826 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 103837248 103848401 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 103859501 103893500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK3 chr14 103893501 103902000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK3 chr14 103902001 103934000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK3 chr14 103923608 106368585 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CKB,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00637,LINC00638,MARK3,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 103934001 103958000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK3 chr14 103938324 103938430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARK3 chr14 103938325 103938430 Gain and loss Pancreatic cancer SNP array 17952125 MARK3 chr14 103938347 103938430 Gain and loss Pancreatic cancer SNP array 17952125 MARK3 chr14 103958001 103969000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK3 chr14 103969001 103975000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARK3 chr14 103975001 103981500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 103981501 104008000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CKB,TRMT61A chr14 103988358 103988815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CKB chr14 103988361 103988815 Gain and loss Pancreatic cancer SNP array 17952125 CKB chr14 104000000 107349540 Deletion Cancer Array CGH 17440070 ADAM6,ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0125,KIAA0284,KIF26A,KLC1,LINC00221,LINC00226,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 104000000 107349540 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADAM6,ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0125,KIAA0284,KIF26A,KLC1,LINC00221,LINC00226,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 104000000 107349540 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 ADAM6,ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0125,KIAA0284,KIF26A,KLC1,LINC00221,LINC00226,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 104000000 107349540 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADAM6,ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0125,KIAA0284,KIF26A,KLC1,LINC00221,LINC00226,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 104000000 107349540 Loss Acute lymphoblastic leukemia 33K BAC Array CGH 17315016 ADAM6,ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0125,KIAA0284,KIF26A,KLC1,LINC00221,LINC00226,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 104000000 107349540 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ADAM6,ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0125,KIAA0284,KIF26A,KLC1,LINC00221,LINC00226,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 104000000 107349540 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ADAM6,ADSSL1,AHNAK2,AKT1,APOPT1,ASPG,BAG5,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0125,KIAA0284,KIF26A,KLC1,LINC00221,LINC00226,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,TRMT61A,XRCC3,ZBTB42,ZFYVE21 chr14 104008001 104016500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104009076 104009417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 104016501 104041000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOPT1,BAG5 chr14 104019282 104019382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 104020709 104040318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOPT1,BAG5 chr14 104027051 104043002 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOPT1,BAG5 chr14 104027057 104039229 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOPT1,BAG5 chr14 104028535 104037753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APOPT1,BAG5 chr14 104041001 104061500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOPT1 chr14 104080501 104082500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104082059 104115902 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLC1 chr14 104082501 104140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLC1 chr14 104117101 104127228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLC1 chr14 104117101 104127228 Gain and loss Pancreatic cancer SNP array 17952125 KLC1 chr14 104117101 104127228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLC1 chr14 104118523 104127228 Amplification T-cell lymphomas Array-CGH 22341440 KLC1 chr14 104129012 104129560 Gain and loss Pancreatic cancer SNP array 17952125 KLC1 chr14 104131465 104142142 Amplification T-cell lymphomas Array-CGH 22341440 KLC1 chr14 104131465 104142142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLC1 chr14 104131465 104142142 Gain and loss Pancreatic cancer SNP array 17952125 KLC1 chr14 104131465 104142142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLC1 chr14 104138780 106368585 Deletion Normal Arbitrated Peel-off 21527027 ADSSL1,AHNAK2,AKT1,ASPG,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,XRCC3,ZBTB42,ZFYVE21 chr14 104138780 106368585 Deletion Normal GeneGISTIC 21527027 ADSSL1,AHNAK2,AKT1,ASPG,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,XRCC3,ZBTB42,ZFYVE21 chr14 104138780 106368585 Deletion Normal Standard peel-off 21527027 ADSSL1,AHNAK2,AKT1,ASPG,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,XRCC3,ZBTB42,ZFYVE21 chr14 104140501 104171000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLC1,XRCC3 chr14 104156100 104156200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLC1 chr14 104171001 104204000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP1R13B,XRCC3,ZFYVE21 chr14 104197399 106066496 Deletion or duplication Mortal Illumina 550K array 21835882 ADSSL1,AHNAK2,AKT1,ASPG,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,KIF26A,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,ZBTB42,ZFYVE21 chr14 104202300 104202907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13B chr14 104204001 104213500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP1R13B chr14 104211782 106085594 Amplification Normal Arbitrated Peel-off 21527027 ADSSL1,AHNAK2,AKT1,ASPG,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,KIF26A,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,ZBTB42 chr14 104211782 106085594 Amplification Normal Standard peel-off 21527027 ADSSL1,AHNAK2,AKT1,ASPG,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,KIF26A,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,ZBTB42 chr14 104213501 104281000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP1R13B chr14 104219700 104317731 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 LINC00637,PPP1R13B chr14 104220465 106084805 Amplification Normal GISTIC2.0 21527027 ADSSL1,AHNAK2,AKT1,ASPG,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,KIF26A,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,RD3L,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,ZBTB42 chr14 104223146 104223669 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 PPP1R13B chr14 104226988 104256992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13B chr14 104226988 104256992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13B chr14 104227003 104242181 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R13B chr14 104227136 104227236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R13B chr1 41042288 41067001 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 104230277 104993730 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ASPG,C14orf2,KIF26A,LINC00637,MIR203,MIR3545,PPP1R13B,RD3L,TDRD9 chr14 104238477 104270478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP1R13B chr14 104246060 104256986 Amplification T-cell lymphomas Array-CGH 22341440 PPP1R13B chr14 104246060 104256991 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R13B chr14 104261579 104284690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13B chr14 104261579 104284690 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R13B chr14 104261579 104284690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13B chr14 104261579 104284692 Amplification T-cell lymphomas Array-CGH 22341440 PPP1R13B chr14 104281001 104308500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP1R13B chr14 104290515 104297035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13B chr14 104290515 104297035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13B chr14 104290541 104297037 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R13B chr14 104290547 104297036 Amplification T-cell lymphomas Array-CGH 22341440 PPP1R13B chr14 104306731 104333125 Gain or loss Breast cancer - 20668451 LINC00637,PPP1R13B chr14 104306731 104333125 Gain or loss Cancer - 20668451 LINC00637,PPP1R13B chr14 104306731 104333125 Gain or loss Lung cancer - 20668451 LINC00637,PPP1R13B chr14 104306731 104333125 Gain or loss Ovarian cancer - 20668451 LINC00637,PPP1R13B chr14 104306731 104333125 Gain or loss Pancreas cancer - 20668451 LINC00637,PPP1R13B chr14 104306731 104333125 Gain or loss Prostate cancer - 20668451 LINC00637,PPP1R13B chr14 104306731 104333125 Loss Breast cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 LINC00637,PPP1R13B chr14 104306731 104333125 Loss Colorectal cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 LINC00637,PPP1R13B chr14 104306731 104333125 Loss Non-small cell lung cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 LINC00637,PPP1R13B chr14 104306731 104333125 Loss Ovarian cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 LINC00637,PPP1R13B chr14 104306734 104333061 Gain and loss Pancreatic cancer SNP array 17952125 LINC00637,PPP1R13B chr14 104306734 104333125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00637,PPP1R13B chr14 104306734 104333125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00637,PPP1R13B chr14 104306753 104330732 Amplification T-cell lymphomas Array-CGH 22341440 LINC00637,PPP1R13B chr14 104308501 104343500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00637,PPP1R13B chr1 41043105 41043398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104313212 104314910 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 LINC00637,PPP1R13B chr14 104316975 104321246 Gain and loss Pancreatic cancer SNP array 17952125 LINC00637 chr14 104317013 105284759 LOH Normal High-resolution SNP genotyping 21211785 ADSSL1,AKT1,ASPG,C14orf180,C14orf2,INF2,KIF26A,LINC00637,MIR203,MIR3545,MIR4710,RD3L,SIVA1,TDRD9,TMEM179,ZBTB42 chr14 104317013 105392796 LOH Normal High-resolution SNP genotyping 21211785 ADSSL1,AKT1,ASPG,C14orf180,C14orf2,INF2,KIAA0284,KIF26A,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,PLD4,RD3L,SIVA1,TDRD9,TMEM179,ZBTB42 chr14 104317013 105422770 LOH Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,ASPG,C14orf180,C14orf2,INF2,KIAA0284,KIF26A,LINC00637,LINC00638,MIR203,MIR3545,MIR4710,PLD4,RD3L,SIVA1,TDRD9,TMEM179,ZBTB42 chr14 104340133 104341846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104343501 104401500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf2,TDRD9 chr14 104344946 104345743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 104358583 104361100 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104359729 105470476 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADSSL1,AHNAK2,AKT1,ASPG,C14orf180,C14orf2,C14orf79,INF2,KIAA0284,KIF26A,LINC00638,MIR203,MIR3545,MIR4710,PLD4,RD3L,SIVA1,TDRD9,TMEM179,ZBTB42 chr14 104361806 104361876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 104364220 104364405 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 104373235 104390007 Loss Normal Birdsuite, version 1.5.2 22087296 C14orf2 chr14 104373376 104374266 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104373376 104374266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104392417 104392935 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr14 104401501 104435500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RD3L,TDRD9 chr14 104402668 104434121 Amplification T-cell lymphomas Array-CGH 22341440 RD3L,TDRD9 chr14 104413700 104434121 Gain and loss Pancreatic cancer SNP array 17952125 TDRD9 chr14 104415282 104434131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TDRD9 chr14 104415282 104434131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD9 chr14 104424503 104424535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TDRD9 chr14 104436349 104456004 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TDRD9 chr14 104437544 104453273 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TDRD9 chr14 104437544 104456004 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TDRD9 chr14 104442501 104444500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TDRD9 chr14 104460001 104470500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TDRD9 chr14 104462231 104470618 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 TDRD9 chr14 104462232 104470618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TDRD9 chr14 104462232 104470618 Gain and loss Pancreatic cancer SNP array 17952125 TDRD9 chr14 104462232 104470618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD9 chr14 104462269 104470618 Amplification T-cell lymphomas Array-CGH 22341440 TDRD9 chr14 104463098 104463198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TDRD9 chr14 104470501 104479000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TDRD9 chr14 104474635 104515739 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 TDRD9 chr14 104474636 104515739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TDRD9 chr14 104474636 104515739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD9 chr14 104475429 106312036 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ADSSL1,AHNAK2,AKT1,ASPG,BRF1,BTBD6,C14orf180,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0284,KIF26A,LINC00638,MIR203,MIR3545,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TDRD9,TEX22,TMEM121,TMEM179,ZBTB42 chr14 104475445 104479074 Gain and loss Pancreatic cancer SNP array 17952125 TDRD9 chr14 104478985 104490816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TDRD9 chr14 104479001 104489500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TDRD9 chr14 104479078 104507865 Gain and loss Pancreatic cancer SNP array 17952125 TDRD9 chr14 104483773 104528626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TDRD9 chr14 104489501 104495000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TDRD9 chr14 104500776 104500876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TDRD9 chr14 104503001 104524500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TDRD9 chr14 104523660 104532900 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr14 104523661 104532896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104523661 104532900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104523661 104532900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104524501 104583000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASPG chr14 104526538 104532900 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 104527142 104527648 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104540976 104541076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 104541300 104543243 Loss Normal 244K array 17666407 NOT_FOUND chr14 104547318 104558538 Amplification T-cell lymphomas Array-CGH 22341440 ASPG chr14 104547326 104558538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASPG chr14 104547326 104558538 Gain and loss Pancreatic cancer SNP array 17952125 ASPG chr14 104547326 104558538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASPG chr14 104583001 104635500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIF26A,MIR203,MIR3545 chr14 104584391 105020471 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KIF26A chr14 104586773 104602799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104586773 104602799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104586784 104602799 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 104586784 104602799 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104628591 104628691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF26A chr14 104635501 104674500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIF26A chr14 104674460 105071276 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 C14orf180,TMEM179 chr14 104674501 104677500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104677501 104682000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104679120 104706206 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 104679120 104706206 Gain or loss Cancer - 20668451 NOT_FOUND chr14 104679120 104706206 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 104679120 104706206 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 104679120 104706206 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 104679120 104706206 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 104679121 104706206 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 104679121 104706206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104679121 104706206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104679121 104706206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104682001 104717000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104685440 104685534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 104699947 104700180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 104703698 104704580 Loss Normal 244K array 17666407 NOT_FOUND chr14 104710320 104718685 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 NOT_FOUND chr14 104710321 104718685 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 104710321 104718686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104710321 104718686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104710321 104718705 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr14 104710322 104718685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104717001 104730000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104730001 104759000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104746670 104838374 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 104746670 104838374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104746670 104838374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104746670 104838374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104747513 104779094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 104759001 104861000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104760622 104781412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 104761193 104768839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 104765699 104784449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 104766257 104768841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 104768754 104778554 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 104784967 104785017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 104786053 104788466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104786053 104788474 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 104786053 104788475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104786053 104788475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104809187 104809546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 104818559 104818803 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr14 104838211 104932054 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 104838214 104935529 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 NOT_FOUND chr14 104852126 104932592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104852126 104935529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104852126 104935529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104861001 104873500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104868984 105239471 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 ADSSL1,AKT1,C14orf180,INF2,MIR4710,SIVA1,TMEM179 chr14 104873501 104884500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104884501 104896500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104896501 104904500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104904501 104907000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104907001 104913500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104909631 104909696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 104913501 104938000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104931320 104931620 Gain Chordoma References 21215367 NOT_FOUND chr14 104931398 104932398 Loss Chordoma References 21215367 NOT_FOUND chr14 104933024 104933522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104948001 104964500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104957202 105008111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104957202 105008111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 104957230 105008102 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 NOT_FOUND chr14 104957411 105008104 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 104961000 114561000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ADAM6,ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf180,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0125,KIAA0284,LINC00221,LINC00226,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,TMEM179,ZBTB42 chr14 104964501 104974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104974501 104978000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 104976054 105008104 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 104978001 105002500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 10497958 10505904 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 105002501 105037500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 105010552 105017244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 105010809 105017545 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 105012176 105017543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105012176 105017543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105012176 105017545 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 105012176 105017545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105023699 105026167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105023937 105024314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105024249 105026173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105024594 105026167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105024594 105026171 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 105027237 105036630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105027565 105036585 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105028749 105036610 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr14 105033409 105033474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 105037501 105121000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf180,TMEM179 chr14 105040053 105072612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C14orf180,TMEM179 chr14 105051752 106005329 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf180,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,TMEM179,ZBTB42 chr14 105054774 106177900 Loss Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf180,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,TMEM179,ZBTB42 chr14 105059083 105598011 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,INF2,KIAA0284,LINC00638,MIR4710,PLD4,SIVA1,TMEM179,ZBTB42 chr14 105059083 105989153 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM179,ZBTB42 chr14 105063097 105063172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM179 chr14 105063998 105067584 Amplification T-cell lymphomas Array-CGH 22341440 TMEM179 chr14 105063998 105067584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM179 chr14 105063998 105067584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM179 chr14 105066103 105067584 Gain and loss Pancreatic cancer SNP array 17952125 TMEM179 chr14 105074243 105074621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105074562 105867730 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105077616 105077696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 105082341 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,INF2,KIAA0284,LINC00638,MIR4710,PLD4,SIVA1,ZBTB42 chr14 105082353 105945406 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105082353 105989139 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105082353 106098362 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105082353 106109086 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105082785 105118907 Gain Normal 244K array 17666407 NOT_FOUND chr14 105083985 105085034 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105083992 105087076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105093265 105284759 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADSSL1,AKT1,INF2,MIR4710,SIVA1,ZBTB42 chr14 105100670 105345298 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AKT1,INF2,KIAA0284,LINC00638,MIR4710,SIVA1,ZBTB42 chr14 105100670 105346366 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AKT1,INF2,KIAA0284,LINC00638,MIR4710,SIVA1,ZBTB42 chr14 105100670 105346366 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AKT1,INF2,KIAA0284,LINC00638,MIR4710,SIVA1,ZBTB42 chr14 105100670 105818132 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105100670 105891777 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105100670 105934559 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105100670 105960412 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105100670 105970530 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105100670 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105100670 105971798 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105100670 105972280 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105100670 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105100682 105149735 Loss Normal Birdsuite, version 1.5.2 22087296 MIR4710 chr14 105100682 105923827 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105100682 106002410 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105100682 106074643 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105115403 105265808 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADSSL1,AKT1,INF2,MIR4710,SIVA1 chr14 105119020 105393351 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ADSSL1,AKT1,INF2,KIAA0284,LINC00638,MIR4710,PLD4,SIVA1,ZBTB42 chr14 105119020 105393351 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 ADSSL1,AKT1,INF2,KIAA0284,LINC00638,MIR4710,PLD4,SIVA1,ZBTB42 chr14 105121001 105146500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4710 chr14 105121130 105633581 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,PLD4,SIVA1,ZBTB42 chr14 105121536 105125776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105124275 105125777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105124705 105459596 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,INF2,KIAA0284,LINC00638,MIR4710,PLD4,SIVA1,ZBTB42 chr14 105124961 106037469 Loss or gain Normal 244K array 17666407 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MIR4710,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105125930 105391419 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AKT1,INF2,KIAA0284,LINC00638,MIR4710,PLD4,SIVA1,ZBTB42 chr14 105135073 105139109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105135595 105312999 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADSSL1,AKT1,INF2,LINC00638,MIR4710,SIVA1,ZBTB42 chr14 105137448 105139110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105142320 105195403 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADSSL1,INF2,MIR4710 chr14 105146501 105173000 Copy number Normal ReadDepth: A Parallel R Package 21305028 INF2 chr14 105149735 105170875 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 INF2 chr14 105149735 105238532 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ADSSL1,AKT1,INF2,SIVA1 chr14 105149735 105601397 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,INF2,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105149735 105601720 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,INF2,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105149735 105606328 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,INF2,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105149735 105764511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105149735 105777170 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105149735 105818132 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105149735 105867730 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105149735 105891777 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105149735 105891777 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105149735 105899170 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105149735 105989141 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105149735 105989141 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105149735 106002410 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105149735 106356482 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105153622 105818132 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105153634 106109086 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105159294 105163447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INF2 chr14 105165522 105481278 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,INF2,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105165522 105481278 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,INF2,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105169265 105238706 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADSSL1,AKT1,INF2,SIVA1 chr14 105173001 105186000 Copy number Normal ReadDepth: A Parallel R Package 21305028 INF2 chr14 105174066 105764511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,INF2,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105174066 105983663 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,INF2,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105178347 105182171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INF2 chr14 105178347 105182171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INF2 chr14 105186001 105240000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADSSL1,AKT1,SIVA1 chr14 105186436 105188441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105187957 105856011 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105190667 105612297 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105190672 105502685 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105190672 105601397 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105190672 105601720 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105190672 106141273 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,TMEM121,ZBTB42 chr14 105193306 105592475 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105196443 105666670 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105197976 105648582 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105197976 105666670 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105197976 105945220 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105199308 105640336 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105199308 105666670 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105201696 105936478 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105203614 105864845 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105203614 105945220 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105205539 105633581 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105205631 105207226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADSSL1 chr14 105205631 105207226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADSSL1 chr14 105208744 105398461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADSSL1,AKT1,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105209688 105210693 Gain and loss Pancreatic cancer SNP array 17952125 ADSSL1 chr14 105210341 105210693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADSSL1 chr14 105210492 105612297 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105210492 105936478 Copy number gain Normal High-resolution SNP genotyping 21211785 ADSSL1,AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105214949 105716179 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105214949 105726209 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105214949 105745673 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,SIVA1,ZBTB42 chr14 105214949 105782711 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105214949 105856011 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105214949 105864845 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105214949 105933729 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105214949 105944369 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105214949 105945220 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105219691 105944369 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105225901 105807957 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,SIVA1,ZBTB42 chr14 105225913 105601409 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,SIVA1,ZBTB42 chr14 105225913 105950876 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,SIVA1,TEX22,ZBTB42 chr14 105228799 105854077 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105228811 106098362 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105233284 105945220 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105237198 105238225 Gain and loss Pancreatic cancer SNP array 17952125 AKT1 chr14 105237198 105238225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKT1 chr14 105238282 105601409 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105238282 105934566 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105238282 105945406 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105238282 105950876 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105238282 105989153 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105238282 106091943 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105238520 105892769 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105238532 105295569 Gain Normal Birdsuite, version 1.5.2 22087296 AKT1,LINC00638,ZBTB42 chr14 105239478 105764543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,ZBTB42 chr14 105240001 105261500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKT1 chr14 105244502 106185319 Gain and loss Pancreatic cancer SNP array 17952125 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105244550 105246046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKT1 chr14 105244599 106174849 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105249542 105881787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105251264 105251339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKT1 chr14 105252668 106368585 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,AKT1,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105255236 105256177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKT1 chr14 105259176 105259909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKT1 chr14 105265510 105362246 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0284,LINC00638,ZBTB42 chr14 105265510 105502685 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105265510 105519113 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105265510 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105265510 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105265510 105601397 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105265510 105601397 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105265510 105601720 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105265510 105601720 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105265510 105764511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,ZBTB42 chr14 105265510 105781020 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105265510 105788389 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105265510 105818132 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105265510 105818132 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105265510 105821913 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105265510 105822317 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105265510 105828652 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105265510 105854077 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105265510 105873086 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105265510 105873086 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105265510 105891777 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105265510 105892769 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105265510 105892769 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105265510 105953375 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105265510 105970530 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105265510 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105265510 105993564 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105265510 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105266012 105320355 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00638,ZBTB42 chr14 105267349 105437150 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AHNAK2,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105267349 106339477 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105267501 105289000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00638,ZBTB42 chr14 105268160 105362246 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0284,LINC00638,ZBTB42 chr14 105268160 105391419 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105268160 105519113 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105268160 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105268160 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105268160 105597999 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105268160 105601720 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105268160 105638133 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,PLD4,ZBTB42 chr14 105268160 105710508 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,ZBTB42 chr14 105268160 105724758 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,ZBTB42 chr14 105268160 105764511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,ZBTB42 chr14 105268160 105777170 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105268160 105793789 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105268160 105794387 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105268160 105807957 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105268160 105817758 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105268160 105822317 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105268160 105891777 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105268160 105974600 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105268160 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105269033 105989153 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105269033 106130109 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121,ZBTB42 chr14 105269503 105298759 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 LINC00638,ZBTB42 chr14 105270409 105362014 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0284,LINC00638,ZBTB42 chr14 105270409 105362246 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0284,LINC00638,ZBTB42 chr14 105270409 105374482 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0284,LINC00638,ZBTB42 chr14 105270409 105764511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4,ZBTB42 chr14 105270409 105794387 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,ZBTB42 chr14 105270409 105892769 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105270421 105989153 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,ZBTB42 chr14 105275144 105280452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105276217 105726209 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105279225 105420890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,KIAA0284,LINC00638,PLD4 chr14 105280605 105726209 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105280605 105945220 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105280605 106368585 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105284759 105705053 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105726209 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105747055 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105750906 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105753856 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105756820 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105758679 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105761093 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105762489 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105284759 105894537 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105284759 105896855 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105284759 105913257 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105284759 105916584 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105284759 105928104 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105284759 105945220 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105285343 105313043 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 LINC00638 chr14 105286983 105894537 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105362246 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0284,LINC00638 chr14 105289618 105391419 Duplication Normal Affymetrix 6.0 microarrays 20967226 KIAA0284,LINC00638,PLD4 chr14 105289618 105391419 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 KIAA0284,LINC00638,PLD4 chr14 105289618 105502685 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,KIAA0284,LINC00638,PLD4 chr14 105289618 105519113 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4 chr14 105289618 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4 chr14 105289618 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4 chr14 105289618 105597999 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4 chr14 105289618 105601397 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4 chr14 105289618 105601397 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4 chr14 105289618 105601720 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4 chr14 105289618 105601720 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,LINC00638,PLD4 chr14 105289618 105764511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PLD4 chr14 105289618 105794387 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105807957 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105818132 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105818132 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105821913 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105822317 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105822317 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105854077 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105854077 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4 chr14 105289618 105867730 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105873086 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105873086 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105891777 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105892769 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105923815 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105930091 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105934559 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105943095 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105960412 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105960412 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105961841 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105971798 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105981313 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105983082 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105983512 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105983663 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105983663 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105985684 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105985684 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105989141 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105989141 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105289618 105993564 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105289618 105994114 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105289618 105998615 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105289618 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105289618 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105289618 106111073 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105289618 106184896 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,LINC00638,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105295387 105943095 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105295399 105700614 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,BRF1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PLD4 chr14 105295399 105989153 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105298001 105315000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 105300 105900 Copy number Lymphoma KC-SMARTR 21070656 NOT_FOUND chr14 105301889 105469293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,C14orf79,KIAA0284,PLD4 chr14 105303256 105782711 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105303296 105308787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105308400 105563854 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105309820 105792517 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105312999 105705053 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PLD4 chr14 105312999 105793638 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105315001 105373500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0284 chr14 105317335 105362246 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0284 chr14 105317335 105502685 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,KIAA0284,PLD4 chr14 105317335 105502685 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,KIAA0284,PLD4 chr14 105317335 105519113 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105519113 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105576359 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105590286 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105601397 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105601397 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105601720 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105606328 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105317335 105682023 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PLD4 chr14 105317335 105764511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PLD4 chr14 105317335 105793789 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105794387 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105807957 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105811807 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105821913 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105822317 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105828652 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105848376 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105854077 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105854077 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105317335 105873086 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105891777 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105891777 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105892769 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105892769 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105896949 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105917486 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105930091 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105930091 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105934559 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105934559 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105960412 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105971798 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105971798 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105972280 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105985377 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105985684 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105985684 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105989141 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105989141 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105317335 105994114 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105317335 105998615 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105317335 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105317335 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105317335 106050535 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105317348 106356482 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105317832 105950864 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105322116 105777170 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105322116 105848376 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105322116 105971798 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105322116 105985684 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105322116 105998615 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105332561 105945220 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105341035 105601720 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105341035 105781020 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105341526 105800403 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,KIAA0284,NUDT14,PACS2,PLD4 chr14 105344295 106295344 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105362014 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,KIAA0284,PLD4 chr14 105362055 106368585 Substitutions and indels small cell lung cancer array-CGH 20016488 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,KIAA0284,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105365559 105812918 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105366711 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,PLD4 chr14 105366711 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,PLD4 chr14 105366711 105601720 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,PLD4 chr14 105366711 105601720 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,PLD4 chr14 105366711 105822317 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105366711 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105366711 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105366711 105985684 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105366711 105985684 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105373501 105405500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHNAK2,PLD4 chr14 105374468 105874663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4,TEX22 chr14 105374817 105383055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105376865 105383056 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105381709 105434561 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,PLD4 chr14 105383502 105815338 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105383502 105815338 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105385100 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,PLD4 chr14 105385100 105601720 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,PLD4 chr14 105385100 105606328 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132,PLD4 chr14 105385100 105899170 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105389522 105393367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD4 chr14 105392796 105818854 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105393935 105397689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLD4 chr14 105396036 106097014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105397723 105800403 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105397723 105818854 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105397723 105828183 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105397723 105894537 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,PLD4,TEX22 chr14 105398172 105751379 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PLD4 chr14 105398172 105762489 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PLD4 chr14 105398555 106173111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,ELK2AP,GPR132,JAG2,MTA1,NUDT14,PACS2,PLD4,TEX22,TMEM121 chr14 105399306 105751379 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PLD4 chr14 105399306 105782711 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105399306 105800403 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105399306 105856011 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105399306 105856011 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,PLD4 chr14 105399421 105429843 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,PLD4 chr14 105399716 105467448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2,C14orf79 chr14 105399872 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105399872 105601720 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105399872 105601720 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105399872 105848376 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105399872 105920709 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105399872 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105400188 105441698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2 chr14 105400188 105856011 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105400192 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105400192 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105400192 105606328 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105400192 105970530 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105400192 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105400453 105400515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105400511 105441585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AHNAK2 chr14 105400532 105800403 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105400532 105818854 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105400532 105828183 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105400532 105856011 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105400532 105899000 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105400611 105433813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2 chr14 105400671 105400720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105401001 105424313 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AHNAK2 chr14 105401069 105401119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105401470 105401517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105401488 105417121 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AHNAK2 chr14 105401509 105434869 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AHNAK2 chr14 105401842 105401891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105402001 105419000 Loss Normal TaqMan assays 20972442 AHNAK2 chr14 105402048 105402107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105402454 105402506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105402662 105402713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105402806 105402816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105402879 105402933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105411085 105745673 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14 chr14 105411085 105800403 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105411085 105812918 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105411085 105818854 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105411085 105845552 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105411085 105847239 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105411085 105856011 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105411085 105870444 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,TEX22 chr14 105411085 105894537 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105411085 105945220 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105597999 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105413350 105597999 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105413350 105601397 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105413350 105601397 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105413350 105601720 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105413350 105601720 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105413350 105606328 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,C14orf79,CDCA4,GPR132 chr14 105413350 105738264 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14 chr14 105413350 105764511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14 chr14 105413350 105777170 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105413350 105794387 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105413350 105821913 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105413350 105873086 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,TEX22 chr14 105413350 105873086 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,TEX22 chr14 105413350 105930091 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105934559 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105970530 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105971798 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105971798 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105972280 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105985684 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105985684 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105989141 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105989141 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105413350 105993564 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105413350 105994114 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105413350 105998615 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105413350 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105413350 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105417001 105459000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHNAK2,C14orf79 chr14 105417121 105442254 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AHNAK2 chr14 105417937 105417956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105418442 105418459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105420001 105429000 Loss Normal TaqMan assays 20972442 AHNAK2 chr14 105420806 105420825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105420923 105439671 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 AHNAK2 chr14 105421773 105421791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105422770 105873560 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,TEX22 chr14 105422934 105422964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105424545 105875743 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,TEX22 chr14 105425454 105425481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105427895 105877860 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,TEX22 chr14 105428094 105428110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105428602 105428622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105430001 105438000 Loss Normal TaqMan assays 20972442 AHNAK2 chr14 105430221 105879289 Copy number gain Normal High-resolution SNP genotyping 21211785 AHNAK2,BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,NUDT14,PACS2,TEX22 chr14 105430445 105430464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105431411 105431426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105432537 105432573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105434860 105434890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105437541 105437557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105438045 105438065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105439552 105439574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105440520 105440534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105441400 105441430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105441584 105441614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105444114 105444144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHNAK2 chr14 105445830 105459551 Gain and loss Pancreatic cancer SNP array 17952125 C14orf79 chr14 105446811 105446827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105447314 105447331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105449161 105449180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105450126 105450141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105451263 105451293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105453347 105894537 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105453347 105894537 Copy number gain Normal High-resolution SNP genotyping 21211785 BRF1,BTBD6,C14orf79,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105453730 105453760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf79 chr14 105456047 105599853 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C14orf79,CDCA4,GPR132 chr14 105456047 105599853 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 C14orf79,CDCA4,GPR132 chr14 105456406 105456422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf79 chr14 105459001 105462000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf79 chr14 105461656 105464413 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C14orf79 chr14 105461656 105464413 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C14orf79 chr14 105461656 105464413 Indels Malaria PCR,Delta Delta Ct 21533027 C14orf79 chr14 105461657 105469554 Gain and loss Pancreatic cancer SNP array 17952125 C14orf79 chr14 105462001 105467500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 105465796 105905736 Copy number gain Normal High-resolution SNP genotyping 21211785 BRF1,BTBD6,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105466597 105894537 Copy number gain Normal High-resolution SNP genotyping 21211785 BRF1,BTBD6,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105466597 105905736 Copy number gain Normal High-resolution SNP genotyping 21211785 BRF1,BTBD6,CDCA4,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105467112 105467351 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr14 105467501 105479000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDCA4 chr14 105467525 106005747 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 BRF1,BTBD6,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105476654 105477101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDCA4 chr14 105479001 105857500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRF1,BTBD6,CDCA4,GPR132,JAG2,NUDT14,PACS2 chr14 105482111 105482290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDCA4 chr14 105486187 105486276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDCA4 chr14 105489391 105489597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 105499559 105499659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 105506863 105509403 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 NOT_FOUND chr14 105506863 105509403 Copy number Multiple sclerosis Affymetrix 6.0 arrays 20428171 NOT_FOUND chr14 105508896 105892769 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105515659 105516280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR132 chr14 105520073 105521893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR132 chr14 105520090 105521990 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 GPR132 chr14 105522074 105930091 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105522074 105960412 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105522074 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105522074 105972280 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105523714 105524151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR132 chr14 105534410 106253675 Loss or gain Normal 244K array 17666407 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,ELK2AP,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105538722 105539012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105541523 105648959 Gain aortic dissecting aneurysms Array-CGH 22263138 JAG2,NUDT14 chr14 105541523 105648959 Gain Stenocardia MACArray Karyo 67K BAC-chips 21860640 JAG2,NUDT14 chr14 105541523 105648959 Gain Vasospasm MACArray Karyo 67K BAC-chips 21860640 JAG2,NUDT14 chr14 105542289 105542726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105542885 105574140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 105545059 105574268 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 105549153 105549584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 41055501 41062500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 105565179 105565622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105566116 105851870 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 BRF1,BTBD6,JAG2,NUDT14,PACS2 chr14 105566943 105567041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105572876 105573136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105582827 105583276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105589443 105589898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105601409 105640508 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 JAG2,NUDT14 chr14 105601720 105638133 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 JAG2 chr14 105601732 105638145 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 JAG2 chr14 105601732 105640508 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 JAG2,NUDT14 chr14 105602402 105630289 Deletion Oligozoospermia Array-CGH 20877625 JAG2 chr14 105602402 105630289 Deletion Sertoli-cell only syndrome Array-CGH 20877625 JAG2 chr14 105602402 105630289 Duplication Oligozoospermia Array-CGH 20877625 JAG2 chr14 105602402 105630289 Duplication Sertoli-cell only syndrome Array-CGH 20877625 JAG2 chr14 105605178 105640495 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 JAG2,NUDT14 chr14 105605178 105640495 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 JAG2,NUDT14 chr14 105607001 105612000 Loss Normal TaqMan assays 20972442 JAG2 chr14 105609107 105612798 Loss Normal Birdsuite, version 1.5.2 22087296 JAG2 chr14 105610122 105610560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAG2 chr14 105612786 105640496 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 JAG2,NUDT14 chr14 105612786 105818132 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,NUDT14,PACS2 chr14 105612786 105891777 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105892769 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105930091 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105934559 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105934559 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105943095 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105974600 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105989141 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 105989682 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105612786 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105612786 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105612798 105618359 Loss Normal Birdsuite, version 1.5.2 22087296 JAG2 chr14 105612863 105623332 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 JAG2 chr14 105613310 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105614448 105644256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 JAG2,NUDT14 chr14 105618347 105818132 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,NUDT14,PACS2 chr14 105618347 105838834 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,NUDT14,PACS2 chr14 105618347 105873086 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,NUDT14,PACS2,TEX22 chr14 105618347 105892769 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105934559 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105934559 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105953375 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105960412 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105968424 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105971798 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105974600 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105981922 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105983663 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105985684 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105985684 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105989141 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105618347 105998615 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105618347 105998615 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105618347 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105618359 105626966 Loss Normal Birdsuite, version 1.5.2 22087296 JAG2 chr14 105623329 105623774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAG2 chr14 105626954 105960412 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105626954 105983082 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22 chr14 105626966 105632486 Loss Normal Birdsuite, version 1.5.2 22087296 JAG2 chr14 105630591 105631020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAG2 chr14 105632486 105638145 Loss Normal Birdsuite, version 1.5.2 22087296 JAG2 chr14 105638133 105807957 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105638133 105818132 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105638133 105818132 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105638133 105848376 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105638133 105854077 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105638133 105867730 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2,TEX22 chr14 105638133 105867730 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2,TEX22 chr14 105638133 105873086 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2,TEX22 chr14 105638133 105892769 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105892769 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105899170 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105930091 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105930091 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105934559 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105934559 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105970530 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105970530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105971798 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105974600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105982342 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105983082 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105985684 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105985684 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105989141 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 105989141 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105638133 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105638133 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105638133 106104629 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105638145 105645163 Loss Normal Birdsuite, version 1.5.2 22087296 NUDT14 chr14 105640496 105811380 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105640496 105822317 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105640496 105822317 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BRF1,BTBD6,NUDT14,PACS2 chr14 105640496 105934559 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105640496 105943095 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105640496 105960412 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105640496 105971798 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105640496 105974600 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105640496 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105640496 106111073 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105640496 106116305 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105640508 105934571 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105644276 105644725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUDT14 chr14 105645163 105848388 Gain or loss Normal Birdsuite, version 1.5.2 22087296 BRF1,BTBD6,NUDT14,PACS2 chr14 105645163 105945406 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BRF1,BTBD6,CRIP2,MTA1,NUDT14,PACS2,TEX22 chr14 105645163 106005593 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105645593 105777170 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BRF1,BTBD6,NUDT14,PACS2 chr14 105645593 105822317 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105645593 105835970 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105645593 105854077 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2 chr14 105645593 105867730 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2,TEX22 chr14 105645593 105873086 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2,TEX22 chr14 105645593 105873086 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,NUDT14,PACS2,TEX22 chr14 105645593 105891777 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105645593 105892769 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105645593 105892769 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105645593 105899170 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105645593 105934559 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,NUDT14,PACS2,TEX22 chr14 105645593 106111073 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105645593 106152384 Duplication Normal Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,NUDT14,PACS2,TEX22,TMEM121 chr14 105647848 105648114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105648625 105892769 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,MTA1,PACS2,TEX22 chr14 105650204 105698597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105651579 105822317 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,PACS2 chr14 105651579 105854077 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,BTBD6,PACS2 chr14 105655817 105852471 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BRF1,BTBD6,PACS2 chr14 105657180 105657632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105667998 105668051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 105670040 105670330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105673625 105673865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105680951 105857252 Gain Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 BRF1,BTBD6,PACS2 chr14 105681356 105681817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105681356 105693232 Gain and loss Pancreatic cancer SNP array 17952125 BRF1 chr14 105691315 105691534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105692939 105693390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105698634 105698766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105702076 105702494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105707447 105708158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105708209 105833372 Copy number Rett syndrome References 21593744 BRF1,BTBD6,PACS2 chr14 105708209 105833372 Deletion Rett syndrome References 21593744 BRF1,BTBD6,PACS2 chr14 105712606 105713042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105716891 106176088 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,PACS2,TEX22,TMEM121 chr14 105724416 105724706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105734466 105734574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105738624 105739078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105740513 105740996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105743591 105848376 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BRF1,PACS2 chr14 105762716 105763169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRF1 chr14 105766031 105788869 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRF1,PACS2 chr14 105767974 105789651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRF1,PACS2 chr14 105780630 105811807 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BRF1,PACS2 chr14 105785405 105785866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105786534 106043812 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22,TMEM121 chr14 105791000 105791264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105792324 105792521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105794276 105811154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PACS2 chr14 105794514 105794880 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 PACS2 chr14 105796244 105796699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105797582 105829568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PACS2 chr14 105800103 105800159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PACS2 chr14 105804187 105804624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105814851 105815298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105816668 105817118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105821207 105821447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105821330 105907464 Loss aortic dissecting aneurysms Array-CGH 22263138 MTA1,PACS2,TEX22 chr14 105821330 105907464 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 MTA1,PACS2,TEX22 chr14 105822176 105887768 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTA1,PACS2,TEX22 chr14 105827891 105934559 Duplication Normal Affymetrix 6.0 microarrays 20967226 MTA1,PACS2,TEX22 chr14 105827891 105943095 Duplication Normal Affymetrix 6.0 microarrays 20967226 CRIP2,MTA1,PACS2,TEX22 chr14 105827891 105981922 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22 chr14 105827891 105989141 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22 chr14 105827891 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22,TMEM121 chr14 105827891 106062078 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22,TMEM121 chr14 105828183 106368585 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,PACS2,TEX22,TMEM121 chr14 105828694 105829137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105829129 106250892 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,PACS2,TEX22,TMEM121 chr14 105829129 106356482 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,PACS2,TEX22,TMEM121 chr14 105833014 105970530 Duplication Normal Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22 chr14 105835970 105891777 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MTA1,PACS2,TEX22 chr14 105836723 105836972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105841890 105892769 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MTA1,PACS2,TEX22 chr14 105841959 105842283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105845131 105845544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105847851 105882960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PACS2,TEX22 chr14 105848210 105901996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTA1,PACS2,TEX22 chr14 105848388 105854089 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PACS2 chr14 105851556 105851990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105853477 105913751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTA1,PACS2,TEX22 chr14 105854077 105892769 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MTA1,PACS2,TEX22 chr14 105854077 105989682 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22 chr14 105854078 105896948 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 MTA1,PACS2,TEX22 chr14 105856721 105856961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105857501 105877000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PACS2,TEX22 chr14 105858413 105858849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105859122 105872252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PACS2,TEX22 chr14 105860252 105861087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PACS2 chr14 105862048 105862501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACS2 chr14 105864845 106368585 LOH Normal High-resolution SNP genotyping 21211785 C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,TEX22,TMEM121 chr14 105867722 105879101 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TEX22 chr14 105869691 105869922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX22 chr14 105871364 105871802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX22 chr14 105872997 105875012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX22 chr14 105875049 105891701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTA1,TEX22 chr14 105876252 105876689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX22 chr14 105877001 106368585 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,TEX22,TMEM121 chr14 105881642 105881678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105881961 105902383 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 MTA1 chr14 105883136 105883562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105886764 105916661 Gain and loss Pancreatic cancer SNP array 17952125 MTA1 chr14 105886765 105887218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105887838 105890428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTA1 chr14 105892769 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,TMEM121 chr14 105892769 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,TMEM121 chr14 105894360 105894639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105896083 105896522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105896949 106005581 Duplication Normal Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,TMEM121 chr14 105896949 106005581 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,TMEM121 chr14 105899000 106368585 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,TMEM121 chr14 105900637 105901069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105904276 105904709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105916366 105916819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105916366 105916819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105916584 106237498 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C14orf80,CRIP1,CRIP2,ELK2AP,MTA1,TMEM121 chr14 105919730 105920187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105920746 105980106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C14orf80,CRIP1,CRIP2,MTA1 chr14 105923633 105924071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105926945 105930412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA1 chr14 105929997 105930042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTA1 chr14 105935755 106116305 Duplication Normal Affymetrix 6.0 microarrays 20967226 C14orf80,CRIP1,CRIP2,MTA1,TMEM121 chr14 105937299 105992878 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C14orf80,CRIP1,CRIP2 chr14 105937450 105937901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105943095 105989141 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf80,CRIP1,CRIP2 chr14 105943095 106014867 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf80,CRIP1,CRIP2,TMEM121 chr14 105943096 105993563 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 C14orf80,CRIP1,CRIP2,TMEM121 chr14 105944987 105945040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRIP2 chr14 105945220 106248680 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C14orf80,CRIP1,CRIP2,ELK2AP,TMEM121 chr14 105945397 106058612 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 C14orf80,CRIP1,CRIP2,TMEM121 chr14 105947057 106368585 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C14orf80,CRIP1,ELK2AP,TMEM121 chr14 105948662 105949100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105950864 105989141 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf80,CRIP1 chr14 105950865 105985683 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 C14orf80,CRIP1 chr14 105951250 105951630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 105952053 106136559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C14orf80,CRIP1,ELK2AP,TMEM121 chr14 105952315 105952513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105952397 105960424 Loss Normal Birdsuite, version 1.5.2 22087296 C14orf80,CRIP1 chr14 105960412 105974534 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf80 chr14 105960412 105989682 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf80 chr14 105960424 105974612 Loss Normal Birdsuite, version 1.5.2 22087296 C14orf80 chr14 105963370 105963510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf80 chr14 105964306 105989141 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf80 chr14 105964306 106005581 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf80,TMEM121 chr14 105967648 105989141 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 105967648 106005581 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM121 chr14 105967906 105967963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105968424 105989141 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 105970089 105970538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105974076 105989682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 105974612 105989694 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 105987062 105988025 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 105987067 105988025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105988336 106044701 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 TMEM121 chr14 105990228 105990528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105991294 106085250 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 TMEM121 chr14 105993564 106111073 Duplication Normal Affymetrix 6.0 microarrays 20967226 TMEM121 chr14 105997232 105997689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 105999762 105999933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106000381 106000450 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 106003683 106245972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ELK2AP chr14 106005271 106005444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106009519 106022574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106015818 106022574 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 106016397 106016808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106021193 106021442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106033974 106034411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106038092 106038529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106038092 106038529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106042797 106042833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106045551 106046005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106045553 106065152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 106057907 106057966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 106058188 106058518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106064857 106065312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106074644 106368585 Amplification Cancer Affymetrix 250K Sty array 20164920 ELK2AP chr14 106083981 106084442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106083981 106084442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106091408 106091631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106093150 106093588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106094197 106094323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 106105772 106106207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106110538 106110839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106111747 106112005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106113405 106113855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106119715 106120165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106126727 106126981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106128403 106128840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106129776 106368585 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ELK2AP chr14 106131581 106131625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 106133156 106133606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106136817 106137251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELK2AP chr14 106145952 106146231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106149416 106149853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106149416 106149853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106154299 106154730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106155906 106167783 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr14 106156055 106156155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 106158247 106158703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106159175 106159833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 106162126 106176088 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 106163674 106163740 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 106163722 106163836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 106163722 106163836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106164768 106165023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106166169 106166606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106170190 106170633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106177600 106177834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106179297 106179741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106184784 106185242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106193153 106193593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106198858 106199105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106202069 106202368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106202076 106202526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106207665 106208104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106210467 106211412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106213579 106213624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106214175 106214262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106219719 106219950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106222164 106222459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106223303 106247258 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 106223303 106250892 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 106223315 106247258 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 106223861 106246130 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr14 106224100 106247258 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 106230914 106231208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106231370 106247258 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 106231370 106250892 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 106231699 106250892 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 106237498 106248680 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 106237498 106248680 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 106240967 106241412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106249864 106250307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 41062501 41073500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 106254441 106254902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106269975 106270436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106281975 106282436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106287352 106368585 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr14 106289719 106290174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106289721 106290014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106300450 106300690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106302962 106303422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106306755 106306829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 106307142 106307436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106311039 106311324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106317891 106360098 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr14 106327885 106356482 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 106330373 106330806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106334195 106356482 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr14 106344887 106345155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106346918 106347349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106352045 106352297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106353835 106354271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106358815 106359064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 106780259 106368585 Insert Normal - 21272357 chr14 106813474 106368585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr14 106881241 106368585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr14 106908021 106368585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr14 106980724 106368585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr14 1070555 20830285 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 CCNB1IP1,LOC642426,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,PARP2,POTEG,POTEM,RPPH1,SNORD126,TTC5 chr14 107167880 106368585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr14 107259834 106368585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 41073501 41254000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNQ4,LOC100130557,MIR30C1,MIR30E,NFYC,RIMS3 chr1 41074260 42703262 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CITED4,CTPS1,EDN2,FOXJ3,GUCA2A,GUCA2B,HIVEP3,KCNQ4,LOC100130557,MIR30C1,MIR30E,NFYC,RIMS3,SCMH1,SLFNL1,SLFNL1-AS1 chr1 41099310 41100625 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RIMS3 chr1 41099310 41100625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMS3 chr1 41099310 41100625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMS3 chr14 1 105311216 Deletion Esophageal cancer affymetrix genechip human mapping 280K Nsp arrays 21851588 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRMS1L,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 1 106368585 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 1 106368585 Deletion,duplication Normal Affymetrix 250K SNP array 21412953 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 1 106368585 Gain Ewing's sarcoma Karyotyping and CGH(Reference) 21437220 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 1 106368585 Indels Normal Affymetrix 6.0 array 21223598 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 1 106368585 Loss Glioblastoma multiforme aCGH 21080181 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 1 106368585 Loss Glioblastoma multiforme conventional CGH 21080181 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 1 106368585 Trisomy Normal MAD tool 21586113 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 1 107349540 Loss High-proliferative meningiomas Array CGH 17937814 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr1 41114457 41147319 Gain and loss Pancreatic cancer SNP array 17952125 RIMS3 chr1 41119794 41149087 Gain Normal Birdsuite, version 1.5.2 22087296 RIMS3 chr14 112837401 106368585 Deletion Glioma mate-paired sequence 20126413 chr1 41131777 41131809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 41133115 41146630 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 41150362 41158002 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130557,NFYC chr14 1 15600000 Loss Breast cancer aCGH 21264507 NOT_FOUND chr14 1 15600000 Loss Esophageal squamous carcinoma CGH 21637470 NOT_FOUND chr1 41161968 41296209 Gain and loss Pancreatic cancer SNP array 17952125 KCNQ4,MIR30C1,MIR30E,NFYC chr1 41174800 41175800 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NFYC chr1 41176363 41178022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFYC chr1 41178543 42371163 Substitutions and indels small cell lung cancer array-CGH 20016488 CITED4,CTPS1,EDN2,HIVEP3,KCNQ4,MIR30C1,MIR30E,NFYC,SCMH1,SLFNL1,SLFNL1-AS1 chr1 41180511 41180775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFYC chr14 1 18084000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 1 19025600 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 41217951 41250813 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNQ4,MIR30C1,MIR30E,NFYC chr1 41217951 41250813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ4,MIR30C1,MIR30E,NFYC chr1 41221558 41250797 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 KCNQ4,MIR30C1,NFYC chr14 1 23145193 Amplification Cancer Affymetrix 250K Sty array 20164920 ABHD4,ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,LOC642426,METTL17,METTL3,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RAB2B,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr1 41233403 41233811 Gain and loss Pancreatic cancer SNP array 17952125 NFYC chr1 41253856 41261496 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNQ4 chr1 41253856 41261496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNQ4 chr1 41253856 41261496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ4 chr1 41254001 41260500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNQ4 chr1 41265461 41480375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CITED4,CTPS1,KCNQ4,SLFNL1-AS1 chr1 41265461 41480375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CITED4,CTPS1,KCNQ4,SLFNL1-AS1 chr1 41265461 41480375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CITED4,CTPS1,KCNQ4,SLFNL1-AS1 chr1 41273133 42439233 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CITED4,CTPS1,EDN2,HIVEP3,KCNQ4,SCMH1,SLFNL1,SLFNL1-AS1 chr14 1 29140968 Deletion Cancer Affymetrix 250K Sty array 20164920 ABHD4,ACIN1,ADCY4,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 13063292 13805918 Copy number Normal Quantitative Real-Time PCR 17666543 NOT_FOUND chr1 41336897 41337392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 134240757 134272042 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 134240757 134272042 Gain or loss Cancer - 20668451 NOT_FOUND chr14 134240757 134272042 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 134240757 134272042 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 134240757 134272042 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 134240757 134272042 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 4135448 4135819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 4136001 4257500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 41399313 41399627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 41404798 41405308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 41441202 41441281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 4147645 4342495 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 41502880 41503121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCMH1,SLFNL1-AS1 chr1 41516458 41517096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCMH1 chr1 41517233 41517294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCMH1 chr1 41558501 41561500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCMH1 chr14 15600000 106368585 Amplification Non-small cell lung cancer Array comparative genomic hybridization 21044232 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Copy number Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Deletion Colorectal cancer CGH 20709793 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Deletion Normal - 20616218 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Gain Esophageal squamous carcinoma CGH 21637470 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Gain Medulloblastoma SNP arrays 21979893 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Gain or loss Endometrial cancer CGH 22040021 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Loss Breast cancer aCGH 21264507 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Loss Hepatocellular carcinoma CGH 22174799 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Loss Normal - 21321214 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 106368585 Loss Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 15600000 19100000 Gain Schizophrenia Affymetrix 6.0 array 21399695 NOT_FOUND chr14 15600000 23600000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 15600000 23600000 Deletion T-cell acute lymphoblastic leukemia FISH 20065082 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 15600000 23600000 Translocation T-cell prolymphocytic leukemia References 19278963 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 15600000 36900000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CFL2,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EMC9,FAM177A1,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MBIP,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NFKBIA,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PSMA6,PSMB11,PSMB5,PSME1,PSME2,PTCSC3,RAB2B,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SNX6,SPTSSA,SRP54,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr1 41561501 41595500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCMH1 chr1 41568573 41568673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCMH1 chr1 41595501 41607000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCMH1 chr1 41600181 41621849 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SCMH1 chr1 41600181 41621849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCMH1 chr1 41601701 41601791 Gain and loss Pancreatic cancer SNP array 17952125 SCMH1 chr1 41607001 41718500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCMH1 chr1 41613546 41619390 Gain and loss Pancreatic cancer SNP array 17952125 SCMH1 chr1 41614591 41659711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCMH1 chr1 41630000 42840000 Loss Breast cancer aCGH 21509527 EDN2,FOXJ3,GUCA2A,GUCA2B,HIVEP3,SCMH1 chr1 41637170 41637270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCMH1 chr1 41644778 41835765 Gain and loss Pancreatic cancer SNP array 17952125 SCMH1 chr1 41676248 41709751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCMH1 chr1 41703460 41703560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCMH1 chr1 41705195 41705285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCMH1 chr1 41711015 41741914 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 41711700 41711800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 41717036 41722884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 41717036 41722884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 41718501 41769000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 41744623 42156965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EDN2,HIVEP3 chr1 41744623 42156965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EDN2,HIVEP3 chr1 41747724 42659510 LOH Normal High-resolution SNP genotyping 21211785 EDN2,FOXJ3,GUCA2A,GUCA2B,HIVEP3 chr14 17600000 107349540 Copy number Neuroblastoma Affymetrix 100K SNP arrays 19435921 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 17600000 107349540 Deletion Colorectal cancer GISTIC software 19359472 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 17600000 107349540 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 17600000 107349540 Loss Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 17600000 107349540 Loss Gastrointestinal stromal cancer CGH 17535989 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 17600000 107349540 Loss Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 17600000 107349540 Loss Paraganglioma CGH 17535989 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 17600000 107349540 Loss Pulmonary chondroma CGH 17535989 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 17600000 19100000 Amplification Hepatocellular carcinoma Array CGH 16750200 NOT_FOUND chr14 17600000 19100000 Loss Acute lymphoblastic leukemia Array CGH 17640729 NOT_FOUND chr14 17600000 33300000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 17600000 50900000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARF6,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ATP5S,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf119,C14orf176,C14orf182,C14orf183,C14orf23,C14orf28,C14orf93,CBLN3,CCNB1IP1,CDH24,CDKL1,CEBPE,CFL2,CHD8,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,COCH,CPNE6,CTAGE5,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DNAAF2,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EMC9,FAM177A1,FAM179B,FANCM,FBXO33,FITM1,FKBP3,FOXA1,FOXG1,FSCB,G2E3,GEMIN2,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHDC1,KLHDC2,KLHL28,KLHL33,L2HGDH,LINC00639,LINC00641,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100506071,LOC642426,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,MAP4K5,MBIP,MDGA2,MDP1,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4503,MIR4707,MIR548AI,MIR548Y,MIR624,MIS18BP1,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NEMF,NFATC4,NFKBIA,NGDN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PAX9,PCK2,PNN,PNP,POLE2,POTEG,POTEM,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PRPF39,PSMA6,PSMB11,PSMB5,PSME1,PSME2,PTCSC3,RAB2B,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPL10L,RPL36AL,RPPH1,RPS29,SALL2,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD127,SNORD8,SNORD9,SNX6,SOS2,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TRAPPC6B,TSSK4,TTC5,ZFHX2,ZNF219 chr1 41763065 41795558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 41763150 45703878 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARTN,ATP6V0B,B4GALT2,BEST4,BTBD19,C1orf210,C1orf228,C1orf50,CCDC23,CCDC24,CCDC30,CDC20,CLDN19,DMAP1,DPH2,EBNA1BP2,EDN2,EIF2B3,ELOVL1,ERI3,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HECTD3,HIVEP3,HYI,IPO13,KDM4A,KDM4A-AS1,KIF2C,KLF17,LEPRE1,LOC100129924,MED8,MIR5584,MPL,PLK3,PPCS,PPIH,PTCH2,PTPRF,RIMKLA,RNF220,RPS8,SLC2A1,SLC2A1-AS1,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,SZT2,TCTEX1D4,TIE1,TMEM125,TMEM53,UROD,WDR65,YBX1,ZMYND12,ZNF691,ZSWIM5 chr1 41769001 42052500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EDN2,HIVEP3 chr1 41780326 41782444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 41790672 41790762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 17981580 58100000 Copy number Endometrioid adenocarcinoma CGH 16974079 ABHD12B,ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,AP5M1,APEX1,ARF6,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ATG14,ATL1,ATP5S,BAZ1A,BCL2L2,BCL2L2-PABPN1,BMP4,BRMS1L,C14orf101,C14orf105,C14orf119,C14orf166,C14orf176,C14orf182,C14orf183,C14orf23,C14orf28,C14orf93,CBLN3,CCNB1IP1,CDH24,CDKL1,CDKN3,CEBPE,CFL2,CGRRF1,CHD8,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,CNIH,COCH,CPNE6,CTAGE5,CTSG,DAD1,DCAF11,DDHD1,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DLGAP5,DNAAF2,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EMC9,ERO1L,EXOC5,FAM177A1,FAM179B,FANCM,FBXO33,FBXO34,FERMT2,FITM1,FKBP3,FOXA1,FOXG1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,G2E3,GCH1,GEMIN2,GMFB,GMPR2,GNG2,GNPNAT1,GPR137C,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,LGALS3,LINC00520,LINC00639,LINC00640,LINC00641,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100506071,LOC642426,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,MAP4K5,MAPK1IP1L,MBIP,MDGA2,MDP1,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4308,MIR4503,MIR4707,MIR548AI,MIR548Y,MIR5580,MIR624,MIS18BP1,MMP14,MRPL52,MYH6,MYH7,NAA30,NDRG2,NEDD8,NEDD8-MDP1,NEMF,NFATC4,NFKBIA,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTX2,OTX2-AS1,OXA1L,PABPN1,PARP2,PAX9,PCK2,PELI2,PNN,PNP,POLE2,POTEG,POTEM,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PRPF39,PSMA6,PSMB11,PSMB5,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PYGL,RAB2B,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,SALL2,SAMD4A,SAV1,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC35F4,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD127,SNORD8,SNORD9,SNX6,SOCS4,SOS2,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,STYX,SUPT16H,TBPL2,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TMX1,TOX4,TPPP2,TRAPPC6B,TRIM9,TSSK4,TTC5,TXNDC16,WDHD1,ZFHX2,ZNF219 chr14 18070422 19274098 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 18070422 19346504 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 18070422 19471386 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19489160 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19493064 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19493864 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19493864 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19494457 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19494457 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19495736 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19497507 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19497507 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19498904 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19498904 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19500940 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19500940 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19505246 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19513589 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19513589 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19514156 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19514156 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19515334 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19516548 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19519903 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19519903 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19522205 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19522271 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18070422 19553320 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 18072112 18187985 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 18072112 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18072124 18195701 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 18072124 18539520 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 18072124 18763249 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 18072124 19107146 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 18072124 19493212 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC642426,OR11H12 chr14 18072124 19526054 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC642426,OR11H12 chr14 18084001 18104500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 18090000 19470000 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 LOC642426,OR11H12 chr14 18104501 18113000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 18113001 18126750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 18126751 18203500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 18143000 18177000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr14 18148694 19495751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr14 18149473 19433241 Gain Breast cancer 244K CGH oligonucleotide microarrays 20932292 LOC642426,OR11H12 chr14 18149473 19665348 Loss Urothelial carcinoma array CGH validated by FISH 21177765 LOC642426,OR11H12,POTEG chr14 18180267 18188355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18187183 19494445 Loss or gain Normal 244K array 17666407 LOC642426,OR11H12 chr14 18187744 18389177 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr14 18189515 18189621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18203501 18429250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 41821204 41821299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 18212915 19603016 Deletion Breast cancer FISH 17142309 LOC642426,OR11H12,POTEG chr14 18238610 18239551 Gain Normal BAC array 16365383 NOT_FOUND chr1 41824969 41825048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 18285736 18286659 Gain Normal BAC array 16365383 NOT_FOUND chr14 18303262 18303343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18323848 18323930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18343613 18539508 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 18343613 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18405739 18539508 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 18419922 19494696 Q11.2 Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC642426,OR11H12 chr14 18429251 18436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 4184467 4185803 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 18446790 22698194 Loss or gain Normal 244K array 17666407 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,LOC642426,METTL17,METTL3,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RAB2B,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 18447594 18448574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18452197 19490067 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18452197 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18452197 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18452209 18502799 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 18481432 18483783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18486179 18776746 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 18486179 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18492522 18611701 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr14 18502799 18521075 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 18507975 18871743 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 18507975 19490067 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18507975 19492423 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18507975 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18507975 19493200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr14 18521075 18521076 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 18521076 18539520 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 18521076 18539520 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 18523314 19470623 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18523314 19483686 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18523314 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18523314 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18523314 19495751 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18523314 19495751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr14 18528811 18550702 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 18532471 19445654 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18539520 18611714 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 18547122 19261022 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr14 18567001 18665500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 18570207 19366097 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 18611714 18866184 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 18623365 18654942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18623365 18654942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18624383 19484013 Copy number Rett syndrome References 21593744 LOC642426,OR11H12 chr14 18624383 19484013 Deletion or duplication Rett syndrome References 21593744 LOC642426,OR11H12 chr14 18624383 19490689 Gain Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 LOC642426,OR11H12 chr14 18632127 18916865 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 18632127 19462614 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18632127 19470887 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18632127 19492094 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18632127 19492423 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18632127 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18632127 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18634785 18634891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18665501 18674500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 18672662 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18672663 19494765 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC642426,OR11H12 chr14 18674501 19213000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 18676995 19492094 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18676995 19493200 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18690039 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18720037 18754290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18732531 19070091 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 18732531 19070091 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 18732531 19415882 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 18732531 19485285 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 18732531 19485285 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 18732531 19626027 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12,POTEG chr14 18732531 19626027 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12,POTEG chr1 41873800 41873883 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 18754782 18757529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18759305 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18759305 19495751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18767873 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18769715 18787664 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr14 18789543 18790591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18820618 18865630 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 18860343 19483686 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18860343 19490067 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18860343 19492423 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18860343 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18864361 19494616 Copy number Incontinentia Pigmenti Agilent SurePrint G13 one Million microarrays 22033527 LOC642426,OR11H12 chr14 18866184 19170042 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 18871743 19446282 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18871743 19492423 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr14 18872529 19492423 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 18908252 19070091 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 18908252 19415882 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 18908252 19485285 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 18908252 19485285 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 18908252 19626027 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12,POTEG chr14 18914095 19444485 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr14 18914095 19493200 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC642426,OR11H12 chr14 18924816 18925864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18961097 18995329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 18961097 18995329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19008429 19362019 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr14 19008429 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19025601 19885800 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC642426,OR11H12,POTEG chr14 19038387 19038419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 19046161 19472931 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19058281 19058589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19058694 19090272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19058694 19090272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 41906373 41906443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 19064105 19494457 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19064105 19498904 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19078753 19078859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19080901 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19100000 100400000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,AHSA1,AJUBA,AK7,AKAP5,AKAP6,ALDH6A1,ALKBH1,ANG,ANGEL1,AP1G2,AP4S1,AP5M1,APEX1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BMP4,BRMS1L,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf182,C14orf183,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00341,LINC00520,LINC00521,LINC00617,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MBIP,MDGA2,MDP1,MED6,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1260A,MIR208A,MIR208B,MIR3173,MIR4307,MIR4308,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MPP5,MRPL52,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA79,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TEP1,TEX21P,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TOMM20L,TOX4,TPPP2,TRAPPC6B,TRIM9,TRIP11,TRMT5,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE26,ZNF219,ZNF410 chr14 19100000 106368585 Loss Gastrointestinal stromal cancer array CGH 16982739 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 19100000 23600000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Copy number Alzheimer's disease array comparative genome hybridization (aCGH), Affymetrix array, multiplex ligation-dependent probe amplification(MLPA). 21482944 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Deletion Mental retardation References 19951919 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 114 samples 21899760 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Duplication Heart disease Illumina 626Quad Beadchip platform 21282601 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Gain Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 23600000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ABHD4,ACIN1,AJUBA,ANG,APEX1,ARHGEF40,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,DAD1,ECRP,EDDM3A,EDDM3B,HAUS4,HNRNPC,KLHL33,LINC00641,LOC642426,LRP10,METTL17,METTL3,MIR4707,MMP14,MRPL52,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PARP2,PNP,POTEG,POTEM,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19100000 24600000 Deletion Cancer Array CGH 17440070 ABHD4,ACIN1,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,CMTM5,CPNE6,DAD1,DCAF11,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,HAUS4,HNRNPC,HOMEZ,IL25,JPH4,KLHL33,LINC00641,LOC642426,LRP10,LRRC16B,METTL17,METTL3,MIR208A,MIR208B,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NGDN,NRL,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,THTPA,TMEM55B,TOX4,TPPP2,TTC5,ZFHX2,ZNF219 chr14 19100000 24600000 Deletion Lung cancer Relied on a multipoint score function 16773561 ABHD4,ACIN1,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,CMTM5,CPNE6,DAD1,DCAF11,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,HAUS4,HNRNPC,HOMEZ,IL25,JPH4,KLHL33,LINC00641,LOC642426,LRP10,LRRC16B,METTL17,METTL3,MIR208A,MIR208B,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NGDN,NRL,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,THTPA,TMEM55B,TOX4,TPPP2,TTC5,ZFHX2,ZNF219 chr14 19100000 24600000 Gain and amplification Multiple myeloma Array CGH 16616336 ABHD4,ACIN1,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CCNB1IP1,CDH24,CEBPE,CHD8,CMTM5,CPNE6,DAD1,DCAF11,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,HAUS4,HNRNPC,HOMEZ,IL25,JPH4,KLHL33,LINC00641,LOC642426,LRP10,LRRC16B,METTL17,METTL3,MIR208A,MIR208B,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NGDN,NRL,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,RAB2B,RBM23,REM2,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,THTPA,TMEM55B,TOX4,TPPP2,TTC5,ZFHX2,ZNF219 chr14 19100000 31800000 Copy number Breast cancer BAC array 16272173 ABHD4,ACIN1,ADCY4,AJUBA,ANG,AP1G2,AP4S1,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19100000 33300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19100000 34100000 Duplication Epilepsy array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19100000 34100000 Duplication Epilepsy Array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19100000 34100000 Duplication Mental retardation array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19100000 34100000 Duplication Mental retardation Array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19100000 34100000 Duplication severe speech impairment Array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19100000 34100000 Duplication speech impairment array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19100000 78400000 Loss Glioblastoma multiforme conventional CGH 21080181 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,AHSA1,AJUBA,AKAP5,AKAP6,ALDH6A1,ALKBH1,ANG,ANGEL1,AP1G2,AP4S1,AP5M1,APEX1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BATF,BAZ1A,BCL2L2,BCL2L2-PABPN1,BMP4,BRMS1L,C14orf1,C14orf101,C14orf105,C14orf119,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf178,C14orf182,C14orf183,C14orf23,C14orf28,C14orf37,C14orf39,C14orf93,CBLN3,CCDC175,CCDC176,CCNB1IP1,CDH24,CDKL1,CDKN3,CEBPE,CFL2,CGRRF1,CHD8,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CLEC14A,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,CPNE6,CTAGE5,CTSG,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EIF2B2,EIF2S1,ELMSAN1,EMC9,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM177A1,FAM179B,FAM71D,FANCM,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALNTL1,GCH1,GEMIN2,GMFB,GMPR2,GNG2,GNPNAT1,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR33,GPX2,GSTZ1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSPA2,IFT43,IGBP1P1,IL25,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,JDP2,JKAMP,JPH4,KCNH5,KHNYN,KIAA0247,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LIN52,LINC00238,LINC00520,LINC00639,LINC00640,LINC00641,LINC00643,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MBIP,MDGA2,MDP1,MED6,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1260A,MIR208A,MIR208B,MIR4307,MIR4308,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR548AI,MIR548Y,MIR5580,MIR624,MIS18BP1,MLH3,MMP14,MNAT1,MPP5,MRPL52,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRL,NUBPL,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTX2,OTX2-AS1,OXA1L,PABPN1,PAPLN,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5E,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCFD1,SDR39U1,SEC23A,SFTA3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC25A21,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEP1,TEX21P,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM229B,TMEM30B,TMEM55B,TMEM63C,TMX1,TOMM20L,TOX4,TPPP2,TRAPPC6B,TRIM9,TRMT5,TSSK4,TTC5,TTC9,TTLL5,TXNDC16,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE26,ZNF219,ZNF410 chr14 19142583 27269355 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD4,ACIN1,ADCY4,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19170042 19205064 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19175240 19333859 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr14 19175240 19437236 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19175240 19482628 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19175240 19483686 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19175240 19490067 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19175240 19492094 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19175240 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19175240 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19175240 19493200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr1 41918128 41918197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 19205064 19227683 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19213001 19262000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 19215758 19218103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19215884 19485285 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 19215884 19485285 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 19215884 19626027 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12,POTEG chr14 19227683 19270022 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19235668 19508708 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC642426,OR11H12 chr14 19250935 19251915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19250935 19251915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19261022 19546582 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC642426,OR11H12 chr14 19263905 19488135 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19493064 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19493864 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19493864 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19494457 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19494457 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19495736 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19495736 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19498904 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19500940 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19263905 19514156 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19268576 19490830 Deletion Oligozoospermia Array-CGH 20877625 LOC642426,OR11H12 chr14 19268576 19490830 Deletion Sertoli-cell only syndrome Array-CGH 20877625 LOC642426,OR11H12 chr14 19268576 19490830 Duplication Oligozoospermia Array-CGH 20877625 LOC642426,OR11H12 chr14 19268576 19490830 Duplication Sertoli-cell only syndrome Array-CGH 20877625 LOC642426,OR11H12 chr14 19270011 19323620 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 19270011 19477470 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19270011 19483686 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19270011 19483686 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19270011 19490067 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19270011 19492423 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr14 19270011 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19270011 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19270011 19493200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr14 19270022 19270023 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19270023 19302375 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19270945 19453638 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19270945 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19272965 19424016 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 LOC642426,OR11H12 chr14 19272965 19489991 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 LOC642426,OR11H12 chr14 19272965 19492423 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 LOC642426,OR11H12 chr14 19272965 22848538 Loss Developmental delay affymetrix genechip 500K/SNP 6.59 array 21147756 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,LOC642426,METTL17,METTL3,NDRG2,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RAB2B,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19273294 19460382 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19273294 19483686 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19273294 19490067 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19273294 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19273294 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19274098 19494457 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19280825 19490067 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19280825 19492094 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19280825 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19280825 19493200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC642426,OR11H12 chr14 19281484 19493200 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19283126 19494457 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19283126 19494457 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19284328 19464955 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19285288 106312036 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 19285288 20021582 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC642426,OR11H12,POTEG,POTEM chr14 19285427 19286368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19285427 19286368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19285427 19286368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19285508 26927828 Copy number Lung cancer paired-end sequencing 18438408 ABHD4,ACIN1,ADCY4,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LOC642426,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19287401 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19289488 19485285 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12 chr14 19289488 19626027 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC642426,OR11H12,POTEG chr14 19290889 19494457 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19297834 19298787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19297842 19513589 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19297909 19298787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19298312 19493864 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19302375 19390930 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OR11H12 chr14 19308872 19513589 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19308872 19514156 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19309086 19459561 Amplification Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 LOC642426,OR11H12 chr14 19309319 19492423 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 LOC642426,OR11H12 chr14 19318322 19319263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19318322 19319263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19318322 19319263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19322260 19462614 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19328236 19489160 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19328236 19514156 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC642426,OR11H12 chr14 19333104 19492094 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19333104 19493200 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19336854 19489991 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC642426,OR11H12 chr14 19336854 19489991 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC642426,OR11H12 chr14 19336854 19502884 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 LOC642426,OR11H12 chr14 19336854 19502884 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC642426,OR11H12 chr14 19336854 20599898 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC642426,OR11H12,OR11H2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4Q3,POTEG,POTEM chr14 19336854 21557538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANG,APEX1,ARHGEF40,CCNB1IP1,ECRP,EDDM3A,EDDM3B,KLHL33,LOC642426,METTL17,NDRG2,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPPH1,SLC39A2,SNORD126,TEP1,TMEM55B,TPPP2,TTC5 chr14 19336854 21821935 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,LOC642426,METTL17,NDRG2,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SLC39A2,SNORD126,SUPT16H,TEP1,TMEM55B,TPPP2,TTC5,ZNF219 chr14 19336854 21844535 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,LOC642426,METTL17,NDRG2,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SLC39A2,SNORD126,SUPT16H,TEP1,TMEM55B,TPPP2,TTC5,ZNF219 chr14 19336854 22045568 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,LOC642426,METTL17,METTL3,NDRG2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RAB2B,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19337716 19464955 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19338001 19339500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 19340514 19462614 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19345449 19368367 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr14 19345449 19368367 Loss Normal Quantitative PCR 18989455 NOT_FOUND chr14 19352861 19492423 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19361978 19464955 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19362233 19477470 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19362693 19477470 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC642426,OR11H12 chr14 19364851 19446107 Loss Bladder cancer array-CGH 21909424 LOC642426,OR11H12 chr14 19365081 106329840 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 19365448 19366371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19365448 19366371 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19365448 19366371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19369402 19402194 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR11H12 chr14 19380763 19402194 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 19380763 19402637 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 19381928 19492423 Amplification Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 LOC642426 chr14 19385032 19492423 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC642426 chr14 19387587 106241517 Loss Renal cell carcinoma GeneChip Human Mapping 50K Hind Array 21668985 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 19390930 19411146 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC642426 chr14 19401814 19495316 Copy number Lung cancer paired-end sequencing 18438408 LOC642426 chr14 19402695 19502641 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 LOC642426 chr14 19406196 19407142 Gain and loss Pancreatic cancer SNP array 17952125 LOC642426 chr14 19406196 19407172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC642426 chr14 19411146 19482879 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19413225 19426275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 19414267 19415211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19414267 19415211 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19414267 19415211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19445852 19449318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 19445969 19449462 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 19458606 19459577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19458606 19459577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19458606 19459577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19473666 19474601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19473666 19474601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19473666 19474601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19482879 19493212 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19493212 19494766 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19508708 21201556 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANG,APEX1,CCNB1IP1,KLHL33,OR11G2,OR11H2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RNASE10,RNASE11,RNASE12,RNASE4,RNASE9,RPPH1,SNORD126,TEP1,TMEM55B,TTC5 chr14 19508845 34063670 Gain Epilepsy array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19508845 34063670 Gain Mental retardation array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19508845 34063670 Gain speech impairment array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19513518 19514564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19513518 19514564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19513590 19514564 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19515458 19888016 Copy number Lung cancer paired-end sequencing 18438408 POTEG chr14 19526274 22029666 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,METTL17,METTL3,NDRG2,OR11G2,OR11H2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RAB2B,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19540162 19541062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19540162 19541162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19546582 20117702 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 POTEG,POTEM chr14 19552260 19553192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19552260 19553192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19552260 19553192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19560721 22142166 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,METTL17,METTL3,NDRG2,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,PARP2,PNP,POTEG,POTEM,RAB2B,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 19570807 29163547 Loss Prostate cancer Array CGH 18632612 ABHD4,ACIN1,ADCY4,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19570807 42171562 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CFL2,CHD8,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,COCH,CPNE6,CTAGE5,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EMC9,FAM177A1,FBXO33,FITM1,FOXA1,FOXG1,G2E3,GEMIN2,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHL33,LINC00639,LINC00641,LINC00645,LOC100129794,LOC100288846,LOC100506071,LRFN5,LRP10,LRRC16B,LTB4R,LTB4R2,MBIP,MDP1,METTL17,METTL3,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4503,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NFKBIA,NGDN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PAX9,PCK2,PNN,PNP,POTEG,POTEM,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PSMA6,PSMB11,PSMB5,PSME1,PSME2,PTCSC3,RAB2B,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,SNX6,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TRAPPC6B,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19571843 19572757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POTEG chr14 19571843 19572757 Gain and loss Pancreatic cancer SNP array 17952125 POTEG chr14 19571843 19572757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEG chr14 19581513 19696043 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 POTEG chr14 19582682 29076500 Gain Epilepsy array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19582682 29076500 Gain Mental retardation array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19582682 29076500 Gain speech impairment array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,ANG,AP1G2,APEX1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19582682 33275612 Gain Epilepsy array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19582682 33275612 Gain Mental retardation array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19582682 33275612 Gain speech impairment array CGH 20736978 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf176,C14orf23,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CHD8,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,ECRP,EDDM3A,EDDM3B,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,KLHL33,LINC00641,LINC00645,LOC100506071,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,METTL17,METTL3,MIR208A,MIR208B,MIR4307,MIR4707,MIR548AI,MIR624,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PCK2,PNP,POTEG,POTEM,PPP1R3E,PRKD1,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RABGGTA,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPPH1,SALL2,SCFD1,SDR39U1,SLC22A17,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD8,SNORD9,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TSSK4,TTC5,ZFHX2,ZNF219 chr14 19592700 19627512 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 41959743 41971049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 19598044 19598982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19598044 19598982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19598044 19598982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19602478 19650347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 19609203 19658284 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19610138 19656887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 19618291 19626483 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 19619101 19627200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 19620001 19626000 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr14 19620675 19625975 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr14 19621390 19625018 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 19649892 20071919 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 POTEM chr14 19655406 19656437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19655406 19656437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19655499 19656437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19658284 19665855 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 19681735 19682661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19681735 19682661 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19681735 19682661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19684063 19684154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19684063 19684154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19711530 20021582 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 POTEM chr14 19735335 19736372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19735335 19736372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19735437 19736372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19761709 19762701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19761709 19762701 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19761709 19762701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19767401 19768081 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19767401 19768081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19767470 106339477 Gain Chronic myeloid leukemia FISH 20724749 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 19780791 19781765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19780791 19781765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19780791 19781765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19827130 19843976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19827130 19843976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19827144 19843976 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 4198330 4198430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 19849368 19871297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19849368 19871297 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 19849368 19871297 Gain or loss Cancer - 20668451 NOT_FOUND chr14 19849368 19871297 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 19849368 19871297 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 19849368 19871297 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 19849368 19871297 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 19849369 19871297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19849369 19871297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19861178 19861325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19881071 19881410 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19881073 19881405 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19881074 19881406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19881612 19895903 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 19881612 19895903 Gain or loss Cancer - 20668451 NOT_FOUND chr14 19881612 19895903 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 19881612 19895903 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 19881612 19895903 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 19881612 19895903 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 19881613 19895902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19881613 19895902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19881634 19895902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19885801 19987000 Copy number Normal ReadDepth: A Parallel R Package 21305028 POTEM chr14 19902698 20715608 Copy number Lung cancer paired-end sequencing 18438408 OR11G2,OR11H2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,POTEM chr14 19903667 19951420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19905766 19951420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19905766 19951420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19952986 19953075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19952986 19953103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19952987 19953096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19966848 19968719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 19966956 19973150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 19970000 20650000 Loss Breast cancer aCGH 21509527 OR11H2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,POTEM chr14 19985056 19993038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 19985056 19993038 Gain and loss Pancreatic cancer SNP array 17952125 POTEM chr14 19985056 19993038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 19987001 20265300 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR11H2,OR4M1,OR4Q3,POTEM chr14 19992539 20015086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 19992539 20015086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 19993129 19995766 Gain or loss Breast cancer - 20668451 POTEM chr14 19993129 19995766 Gain or loss Cancer - 20668451 POTEM chr14 19993129 19995766 Gain or loss Lung cancer - 20668451 POTEM chr14 19993129 19995766 Gain or loss Ovarian cancer - 20668451 POTEM chr14 19993129 19995766 Gain or loss Pancreas cancer - 20668451 POTEM chr14 19993129 19995766 Gain or loss Prostate cancer - 20668451 POTEM chr14 19993130 19995765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 19993130 19995765 Gain and loss Pancreatic cancer SNP array 17952125 POTEM chr14 19993130 19995765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 19995857 19999476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 19995857 19999476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 19995858 19999476 Gain and loss Pancreatic cancer SNP array 17952125 POTEM chr14 20007409 20015082 Gain and loss Pancreatic cancer SNP array 17952125 POTEM chr14 20017966 20018190 Gain and loss Pancreatic cancer SNP array 17952125 POTEM chr14 20017966 20018190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEM chr14 20034116 20041624 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 20048452 20049168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20048452 20049168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20048470 20049121 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr14 20048471 20049115 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20094093 20098930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20094093 20098930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20094451 20095068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20120894 20128257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20120894 20128257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20120926 20128229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20128279 20128722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20128279 20128722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20128401 20145136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20128401 20145136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20144126 20144500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20162179 20179690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20178695 20179690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20178695 20179690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20190708 20235917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4Q3 chr14 20207174 20207257 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20207174 20207257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20215018 20215099 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20215018 20215099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20217410 20217508 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20217410 20217509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20217410 20217511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20222212 20238597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20222212 20238597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20222212 20238597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20222613 20232178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20222613 20232178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20236123 20258525 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 OR4M1 chr14 20257888 21207935 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANG,APEX1,CCNB1IP1,KLHL33,OR11G2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4N2,OR4N5,OR6S1,OSGEP,PARP2,PNP,RNASE10,RNASE11,RNASE12,RNASE4,RNASE9,RPPH1,SNORD126,TEP1,TMEM55B,TTC5 chr14 20265301 20644800 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4N2,OR4N5 chr14 20279711 20345174 Gain Autism Illumina 550K(Glessner et al.2009), Affy 5.0 (Bucan et al. 2009) 20531469 OR4K2,OR4N2 chr14 20283939 20286379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20283939 20286379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20283939 20286379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20285948 20541454 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4K1,OR4K13,OR4K14,OR4K15,OR4K2,OR4K5,OR4L1,OR4N2 chr14 20285948 20541454 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4K1,OR4K13,OR4K14,OR4K15,OR4K2,OR4K5,OR4L1,OR4N2 chr14 20306426 20308945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20306426 20308947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20306426 20308947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20319050 20320464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20319050 20320464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20319050 20320464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20339355 20340876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20339355 20340876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20339356 20340876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20344337 20344392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42035692 42035792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr14 20383476 20541454 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4K1,OR4K13,OR4K14,OR4K15,OR4K5,OR4L1 chr14 20383476 20541454 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR4K1,OR4K13,OR4K14,OR4K15,OR4K5,OR4L1 chr14 20383489 53262838 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABHD12B,ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARF6,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ATL1,ATP5S,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf119,C14orf166,C14orf176,C14orf182,C14orf183,C14orf23,C14orf28,C14orf93,CBLN3,CCNB1IP1,CDH24,CDKL1,CEBPE,CFL2,CHD8,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,COCH,CPNE6,CTAGE5,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DNAAF2,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EMC9,ERO1L,FAM177A1,FAM179B,FANCM,FBXO33,FITM1,FKBP3,FOXA1,FOXG1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,G2E3,GEMIN2,GMPR2,GNG2,GNPNAT1,GPR137C,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHDC1,KLHDC2,KLHL28,KLHL33,L2HGDH,LINC00639,LINC00640,LINC00641,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100506071,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,MAP4K5,MBIP,MDGA2,MDP1,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4503,MIR4707,MIR548AI,MIR548Y,MIR624,MIS18BP1,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NEMF,NFATC4,NFKBIA,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K5,OR4L1,OR4N5,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PAX9,PCK2,PNN,PNP,POLE2,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PRPF39,PSMA6,PSMB11,PSMB5,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PYGL,RAB2B,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPL10L,RPL36AL,RPPH1,RPS29,SALL2,SAV1,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD127,SNORD8,SNORD9,SNX6,SOS2,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,STYX,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TMX1,TOX4,TPPP2,TRAPPC6B,TRIM9,TSSK4,TTC5,TXNDC16,ZFHX2,ZNF219 chr14 20383489 56623380 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABHD12B,ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARF6,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ATG14,ATL1,ATP5S,BAZ1A,BCL2L2,BCL2L2-PABPN1,BMP4,BRMS1L,C14orf119,C14orf166,C14orf176,C14orf182,C14orf183,C14orf23,C14orf28,C14orf93,CBLN3,CCNB1IP1,CDH24,CDKL1,CDKN3,CEBPE,CFL2,CGRRF1,CHD8,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,CNIH,COCH,CPNE6,CTAGE5,CTSG,DAD1,DCAF11,DDHD1,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DLGAP5,DNAAF2,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EMC9,ERO1L,FAM177A1,FAM179B,FANCM,FBXO33,FBXO34,FERMT2,FITM1,FKBP3,FOXA1,FOXG1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,G2E3,GCH1,GEMIN2,GMFB,GMPR2,GNG2,GNPNAT1,GPR137C,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,LGALS3,LINC00520,LINC00639,LINC00640,LINC00641,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100506071,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,MAP4K5,MAPK1IP1L,MBIP,MDGA2,MDP1,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4308,MIR4503,MIR4707,MIR548AI,MIR548Y,MIR5580,MIR624,MIS18BP1,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NEMF,NFATC4,NFKBIA,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K5,OR4L1,OR4N5,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PAX9,PCK2,PELI2,PNN,PNP,POLE2,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PRPF39,PSMA6,PSMB11,PSMB5,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PYGL,RAB2B,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,SALL2,SAMD4A,SAV1,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD127,SNORD8,SNORD9,SNX6,SOCS4,SOS2,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,STYX,SUPT16H,TBPL2,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TMX1,TOX4,TPPP2,TRAPPC6B,TRIM9,TSSK4,TTC5,TXNDC16,WDHD1,ZFHX2,ZNF219 chr14 20404755 20679593 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 OR11G2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4L1,OR4N5 chr14 20413244 20487448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4K14,OR4K15 chr14 20414552 20447050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4K15 chr14 20419446 20422939 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 20421267 20469538 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OR4K15 chr14 20421267 20469538 Copy number gain Normal High-resolution SNP genotyping 21211785 OR4K15 chr14 20421267 20491717 Copy number loss Normal High-resolution SNP genotyping 21211785 OR4K14,OR4K15 chr14 20422939 20479821 Gain Normal Birdsuite, version 1.5.2 22087296 OR4K15 chr14 20424777 20446661 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 OR4K15 chr14 20427491 20469538 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OR4K15 chr14 20427491 20469538 Copy number gain Normal High-resolution SNP genotyping 21211785 OR4K15 chr14 20429143 20457061 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 OR4K15 chr14 20429402 20430347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20429402 20430347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20429402 20430347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20440433 20468582 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 OR4K15 chr14 20457641 20458120 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20457641 20458120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20459417 20492857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4K14 chr1 42046158 42079733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HIVEP3 chr14 20476072 20507579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4K13,OR4K14 chr14 20479821 20483195 Gain Normal Birdsuite, version 1.5.2 22087296 OR4K14 chr14 20484294 20484523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 20493470 20494434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20493470 20494434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20493470 20494434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20501575 20501866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20501575 20501866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20501634 20960530 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 APEX1,CCNB1IP1,KLHL33,OR11G2,OR11H4,OR11H6,OR4K13,OR4K17,OR4L1,OR4N5,OSGEP,PARP2,PNP,RPPH1,SNORD126,TEP1,TMEM55B,TTC5 chr14 20521084 20523065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20527805 20535032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR4L1 chr14 20527805 20535032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR4L1 chr14 20527979 20535032 Gain and loss Pancreatic cancer SNP array 17952125 OR4L1 chr14 20532805 20532805 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr14 20537259 20539870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20537259 20539870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20537310 20539870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20554763 20563775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20554763 20563775 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20554763 20563775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20568249 20570166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20568249 20570166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20568581 20570813 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20570822 20572784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20570822 20572784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20580225 20582230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20580251 20582226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20580351 20580407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 20595892 20596356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20595892 20596356 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20595892 20596356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20605972 20606297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 20605985 20606310 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 20608314 20627543 Gain and loss Pancreatic cancer SNP array 17952125 OR4N5 chr14 20608367 20627876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR4N5 chr14 20608367 20627876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR4N5 chr14 20628076 20636639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20628076 20636639 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20628076 20636639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20644801 21758000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,METTL17,NDRG2,OR11G2,OR11H4,OR11H6,OR5AU1,OR6S1,OSGEP,PARP2,PNP,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SLC39A2,SNORD126,TEP1,TMEM55B,TPPP2,TTC5,ZNF219 chr14 20645000 22969797 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,METTL17,METTL3,NDRG2,OR10G2,OR10G3,OR11G2,OR11H4,OR11H6,OR4E2,OR5AU1,OR6S1,OSGEP,PARP2,PNP,RAB2B,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,TTC5,ZNF219 chr14 20646042 20654701 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20646042 20654701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20651638 20651744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20651638 20651744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20651639 20651744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20667225 20667306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 20686715 20699738 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 OR11H6 chr14 20692936 20693871 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20692936 20694024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20692936 20694024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42070000 42450000 Loss Acute lymphoblastic leukemia - 21339820 HIVEP3 chr14 20700511 20701453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20700511 20701732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20715414 20715542 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 42072000 42456000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 HIVEP3 chr14 20732076 21172814 Copy number Lung cancer paired-end sequencing 18438408 ANG,APEX1,CCNB1IP1,KLHL33,OR6S1,OSGEP,PARP2,PNP,RNASE10,RNASE11,RNASE12,RNASE4,RNASE9,RPPH1,SNORD126,TEP1,TMEM55B,TTC5 chr14 20747135 20807478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNB1IP1,SNORD126,TTC5 chr14 20747135 20807478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNB1IP1,SNORD126,TTC5 chr14 20747135 20807478 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CCNB1IP1,SNORD126,TTC5 chr14 20748555 20807423 Gain and loss Pancreatic cancer SNP array 17952125 CCNB1IP1,SNORD126,TTC5 chr14 20786733 21088750 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 APEX1,CCNB1IP1,KLHL33,OSGEP,PARP2,PNP,RNASE10,RNASE11,RNASE12,RNASE9,RPPH1,SNORD126,TEP1,TMEM55B chr14 20788579 22620727 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANG,APEX1,ARHGEF40,C14orf176,CCNB1IP1,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,KLHL33,LINC00641,METTL17,METTL3,NDRG2,OR10G2,OR10G3,OR4E2,OR5AU1,OR6S1,OSGEP,PARP2,PNP,RAB2B,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RPGRIP1,RPPH1,SALL2,SLC39A2,SNORD126,SNORD8,SNORD9,SUPT16H,TEP1,TMEM55B,TOX4,TPPP2,ZNF219 chr14 20825975 20889300 Insertion Cone-rod dystrophy References 22138850 PARP2,TEP1 chr14 20825976 20889298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARP2,TEP1 chr14 20825976 20889298 Gain and loss Pancreatic cancer SNP array 17952125 PARP2,TEP1 chr14 20825976 20889298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARP2,TEP1 chr14 20848027 20848236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TEP1 chr14 20875881 21147373 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 APEX1,KLHL33,OR6S1,OSGEP,PNP,RNASE10,RNASE11,RNASE12,RNASE9,TEP1,TMEM55B chr14 20889478 20922265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHL33,OSGEP chr14 20889478 20922265 Gain and loss Pancreatic cancer SNP array 17952125 KLHL33,OSGEP chr14 20889478 20922265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL33,OSGEP chr14 208900 2082576 Copy number Autism exome sequencing 22495311 NOT_FOUND chr14 20918741 21394980 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANG,APEX1,ECRP,EDDM3A,EDDM3B,OR6S1,OSGEP,PNP,RNASE1,RNASE10,RNASE11,RNASE12,RNASE3,RNASE4,RNASE6,RNASE9,TMEM55B chr14 20923198 20969237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APEX1,OSGEP,PNP,TMEM55B chr14 20923198 20969237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APEX1,OSGEP,PNP,TMEM55B chr14 20923484 20941004 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 APEX1,PNP,TMEM55B chr14 20923485 20969195 Gain and loss Pancreatic cancer SNP array 17952125 APEX1,PNP,TMEM55B chr14 20930149 20930252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20930149 20930252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20930483 20930583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 20935291 20935400 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20935291 20935400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20935292 20935400 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20950235 20950441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 20950455 20950555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 20967509 20967805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 20967509 20967805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42098038 42098136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr14 20997019 21014972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20997019 21014972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 20997023 21014964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21014754 21037159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNASE9 chr14 21014754 21037159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNASE9 chr14 21015246 21036880 Gain and loss Pancreatic cancer SNP array 17952125 RNASE9 chr14 21022465 21024500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNASE9 chr14 21024967 21025067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNASE9 chr14 21036123 21049297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21036123 21049297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21036123 21049297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21059074 21075177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21059074 21075177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21059074 21075177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21101790 21103055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21101790 21103164 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21107774 21108715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21107774 21108715 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21107774 21108715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21119983 21125597 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 21119983 21125597 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 21125821 21128950 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 21139753 21139859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21139754 21139858 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21139770 21139858 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21159897 21160560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANG,RNASE4 chr14 21159897 21160560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANG,RNASE4 chr14 21162536 22082384 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF40,C14orf176,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE1,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21171249 21305730 Gain small cell lung cancer Real-time Quantitative PCR 17426248 EDDM3A,EDDM3B,RNASE1,RNASE6 chr14 21171906 21172838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21171906 21172838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21171906 21172838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21181033 21181646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21187654 21262134 Copy number Lung cancer paired-end sequencing 18438408 EDDM3A,EDDM3B,RNASE6 chr14 21197463 22008401 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR5AU1,RAB2B,RNASE1,RNASE13,RNASE2,RNASE3,RNASE6,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21201556 22348324 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARHGEF40,C14orf176,CHD8,ECRP,EDDM3A,EDDM3B,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G2,OR10G3,OR4E2,OR5AU1,RAB2B,RNASE1,RNASE13,RNASE2,RNASE3,RNASE6,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21203137 21204078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21203137 21204078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21203137 21204078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21208074 21208975 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21208074 21208975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21250394 21250906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNASE6 chr14 21259099 21807891 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,ECRP,HNRNPC,LINC00641,METTL17,NDRG2,OR5AU1,RNASE1,RNASE13,RNASE2,RNASE3,RNASE7,RNASE8,RPGRIP1,SLC39A2,TPPP2,ZNF219 chr14 21261976 21262408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21261976 21262408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21274341 21275104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21274341 21275104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21276641 21445008 Copy number Lung cancer paired-end sequencing 18438408 ECRP,RNASE2,RNASE3 chr14 21284915 21960251 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,CHD8,ECRP,HNRNPC,LINC00641,METTL17,NDRG2,OR5AU1,RAB2B,RNASE13,RNASE2,RNASE3,RNASE7,RNASE8,RPGRIP1,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21287314 21287829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21300 22200 Copy number Lymphoma KC-SMARTR 21070656 NOT_FOUND chr14 21305730 21549652 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF40,ECRP,METTL17,NDRG2,RNASE13,RNASE2,RNASE3,RNASE7,RNASE8,SLC39A2,TPPP2 chr14 21306633 21307160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21306633 21307160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21307961 21634087 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,ECRP,METTL17,NDRG2,OR5AU1,RNASE13,RNASE2,RNASE3,RNASE7,RNASE8,SLC39A2,TPPP2,ZNF219 chr14 21310636 22074550 Deletion or duplication Mortal Illumina 550K array 21835882 ARHGEF40,C14orf176,CHD8,ECRP,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE13,RNASE2,RNASE3,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21318625 21318706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21320200 21320300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 21321050 21321560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21335431 21335898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21337331 21455611 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ECRP,RNASE2,RNASE3 chr14 21338108 22045568 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ARHGEF40,C14orf176,CHD8,ECRP,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE13,RNASE2,RNASE3,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21346682 21346759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 21349514 21349989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21349514 21349989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21363512 21364079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21363512 21364079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21379262 21379796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21384281 21419601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ECRP chr14 21384784 21385243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21390449 21394135 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21390575 21391023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21393265 21446079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNASE2 chr14 21394980 21603727 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,METTL17,NDRG2,RNASE13,RNASE2,RNASE7,RNASE8,SLC39A2,TPPP2,ZNF219 chr14 21394980 22045568 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE13,RNASE2,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21396700 22045568 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE13,RNASE2,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21406883 21407386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21406883 21407386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21407981 21768821 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,HNRNPC,LINC00641,METTL17,NDRG2,OR5AU1,RNASE13,RNASE2,RNASE7,RNASE8,RPGRIP1,SLC39A2,TPPP2,ZNF219 chr14 21407981 21844535 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,HNRNPC,LINC00641,METTL17,NDRG2,OR5AU1,RNASE13,RNASE2,RNASE7,RNASE8,RPGRIP1,SLC39A2,SUPT16H,TPPP2,ZNF219 chr14 21425964 21426518 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21425979 21426520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21432581 21433051 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21432581 21433054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21451264 22044096 Deletion Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE13,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21452873 22182052 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G2,OR10G3,OR4E2,OR5AU1,RAB2B,RNASE13,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21456273 21456771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21459516 22074256 Copy number Lung cancer paired-end sequencing 18438408 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE13,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21459943 22069902 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE13,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21462154 21462667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL17 chr14 21462750 22028586 Copy number loss Normal High-resolution SNP genotyping 21211785 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL17,METTL3,NDRG2,OR5AU1,RAB2B,RNASE13,RNASE7,RNASE8,RPGRIP1,SALL2,SLC39A2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21479209 21479688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21480460 21844535 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,HNRNPC,LINC00641,NDRG2,OR5AU1,RNASE13,RNASE7,RNASE8,RPGRIP1,SUPT16H,TPPP2,ZNF219 chr14 21492816 22045623 Deletion Normal Affymetrix 6.0 microarrays 20967226 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL3,NDRG2,OR10G3,OR5AU1,RAB2B,RNASE13,RNASE7,RNASE8,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,TPPP2,ZNF219 chr14 21503576 21504135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21512685 21525759 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 21516759 21517200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21518384 21526932 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RNASE8 chr14 21524127 21529350 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RNASE8 chr14 21524127 21675712 Deletion Normal Affymetrix 6.0 microarrays 20967226 ARHGEF40,C14orf176,LINC00641,OR5AU1,RNASE8,ZNF219 chr14 21524127 21804788 Deletion Normal Affymetrix 6.0 microarrays 20967226 ARHGEF40,C14orf176,HNRNPC,LINC00641,OR5AU1,RNASE8,RPGRIP1,ZNF219 chr14 21524127 22030660 Deletion Normal Affymetrix 6.0 microarrays 20967226 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RNASE8,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,ZNF219 chr14 21524127 22030660 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RNASE8,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,ZNF219 chr14 21528572 21541747 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF40 chr14 21528575 21529017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21530000 22050000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL3,OR10G3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,ZNF219 chr14 21533898 22239332 Deletion Autism Array CGH 22102821 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL3,OR10G2,OR10G3,OR4E2,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,ZNF219 chr14 21535765 21536247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21538460 22005864 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ARHGEF40,C14orf176,CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,ZNF219 chr14 21541290 21541750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF40 chr1 42154547 42154647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr14 21545708 21546252 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF40 chr14 21545708 21546260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF40 chr14 21545831 21697994 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF40,C14orf176,HNRNPC,LINC00641,OR5AU1,ZNF219 chr14 21554610 21683844 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ARHGEF40,C14orf176,HNRNPC,LINC00641,OR5AU1,ZNF219 chr14 21558349 22030942 Copy number Neuroblastoma 550K SNP array 19536264 C14orf176,CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,ZNF219 chr14 21569480 22023447 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C14orf176,CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,ZNF219 chr14 21569480 22030660 Deletion Normal Affymetrix 6.0 microarrays 20967226 C14orf176,CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4,ZNF219 chr14 21575148 21675712 Deletion Normal Affymetrix 6.0 microarrays 20967226 LINC00641,OR5AU1 chr14 21575148 21681537 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,OR5AU1 chr14 21575148 21766975 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,OR5AU1,RPGRIP1 chr14 21575148 21983834 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21578749 21579239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21578749 21579239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21590620 21591155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21590620 21591155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21602179 22030660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21602854 21787161 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,OR5AU1,RPGRIP1 chr14 21603727 22045568 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHD8,HNRNPC,LINC00641,METTL3,OR10G3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21604337 22013304 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21604337 22030660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21604830 21762184 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,OR5AU1,RPGRIP1 chr14 21604830 22023447 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21605911 21751763 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,OR5AU1 chr14 21607217 21785788 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,OR5AU1,RPGRIP1 chr14 21608793 21609311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21608793 21609370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 21613418 21787161 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,OR5AU1,RPGRIP1 chr14 21613418 22025556 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR5AU1,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21624569 21625078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21625813 22045660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21628542 21950283 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21629983 22045660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21632122 22045568 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHD8,HNRNPC,LINC00641,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21633201 22030660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21634000 21793939 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,RPGRIP1 chr14 21634167 21634736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21640518 22067673 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21640747 21651118 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr14 21642343 22023447 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21643460 21643963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21647931 22045660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21650216 21650824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21650911 21787161 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,RPGRIP1 chr14 21651118 21801561 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,RPGRIP1 chr14 21651118 22025556 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21651856 22013577 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21651856 22029120 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21652547 21653591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 21656232 22023447 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21660717 21786451 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,RPGRIP1 chr14 21660717 21964093 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,LINC00641,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21661325 21662083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21661661 21704535 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 HNRNPC,LINC00641 chr14 21661662 21963071 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CHD8,HNRNPC,LINC00641,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21662834 21766975 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,RPGRIP1 chr14 21662834 21787161 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,LINC00641,RPGRIP1 chr14 21670355 21670834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00641 chr14 21682085 21786451 Deletion Normal Affymetrix 6.0 microarrays 20967226 HNRNPC,RPGRIP1 chr14 21685305 21788783 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HNRNPC,RPGRIP1 chr14 21685886 21686427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPC chr14 21686623 21961329 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CHD8,HNRNPC,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21693472 21983834 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21695351 21695451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HNRNPC chr14 21696788 22006550 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21696788 22029396 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21696788 22030660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21697326 21938653 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H chr14 21697326 22029396 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21697688 22013577 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21697688 22030660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21701085 21701602 Gain and loss Pancreatic cancer SNP array 17952125 HNRNPC chr14 21701085 21701606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPC chr14 21701085 21701606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPC chr14 21703000 22061000 Amplification Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 CHD8,HNRNPC,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21703480 22812175 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHD8,HNRNPC,METTL3,OR10G2,OR10G3,OR4E2,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21703508 21716524 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HNRNPC chr14 21703508 22029666 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21704535 21716524 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HNRNPC chr14 21704535 21992209 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21704648 21716524 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HNRNPC chr14 21705195 22040167 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHD8,HNRNPC,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21706165 21706724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPC chr14 21711505 22020331 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21711505 22025556 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21711505 22029158 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21715523 22023447 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21715523 22040167 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 CHD8,HNRNPC,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21717112 22023447 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21721254 21943349 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,HNRNPC,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H chr14 21740317 21741102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21745270 21745865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42175361 42176380 Gain and loss Pancreatic cancer SNP array 17952125 HIVEP3 chr14 21756073 22013056 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21758001 24667500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABHD4,ACIN1,AJUBA,AP1G2,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf93,CDH24,CEBPE,CHD8,CMTM5,CPNE6,DAD1,DCAF11,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,HAUS4,HOMEZ,IL25,IPO4,IRF9,JPH4,LRP10,LRRC16B,METTL3,MIR208A,MIR208B,MIR4707,MMP14,MRPL52,MYH6,MYH7,NGDN,NRL,OR10G2,OR10G3,OR4E2,OXA1L,PABPN1,PCK2,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RAB2B,RBM23,REC8,REM2,RNF31,RPGRIP1,SALL2,SLC22A17,SLC7A7,SLC7A8,SNORD8,SNORD9,SUPT16H,THTPA,TM9SF1,TOX4,ZFHX2 chr14 21759632 21760211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPGRIP1 chr14 21764497 21764989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPGRIP1 chr14 21774062 21787161 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RPGRIP1 chr14 21784072 22029666 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21792263 22047089 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21792331 22040096 Deletion Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 CHD8,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21800768 21932862 Deletion Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 CHD8,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H chr14 21802459 22029666 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21804698 21948261 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21804698 22039491 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21806430 21985460 Copy number loss Normal High-resolution SNP genotyping 21211785 CHD8,METTL3,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21809694 21810286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPGRIP1 chr14 21809694 21810286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPGRIP1 chr14 21811905 21999540 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21814248 22013577 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21814248 22023447 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21814248 22030660 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21816094 21999540 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21816094 21999540 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21816094 22013056 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21817304 21970760 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21817304 22012730 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21817304 22013577 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21817304 22020331 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21817304 22041431 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21817323 22044096 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHD8,METTL3,OR10G3,RAB2B,RPGRIP1,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21818452 21849230 Copy number loss Normal High-resolution SNP genotyping 21211785 RPGRIP1,SUPT16H chr14 21818874 21819471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPGRIP1 chr14 21819174 21970760 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,RPGRIP1,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21821935 21983834 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21826293 21826789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUPT16H chr14 21831221 21950283 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,RAB2B,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21834298 22015551 Copy number loss Normal High-resolution SNP genotyping 21211785 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 21938653 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,RAB2B,SNORD8,SNORD9,SUPT16H chr14 21835775 21948261 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,RAB2B,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 21950283 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,RAB2B,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 21950283 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,RAB2B,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 21970760 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 21983834 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 21992209 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 22004498 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 22007496 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 22008051 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 22016220 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 22020331 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 22029802 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 22030660 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21835775 22030660 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21836319 21836403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUPT16H chr14 21840226 21966995 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21841779 21842278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUPT16H chr14 21842435 22069902 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHD8,METTL3,OR10G3,RAB2B,SALL2,SNORD8,SNORD9,SUPT16H,TOX4 chr14 21844672 21845204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUPT16H chr14 21852762 21853191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21858460 21858963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD8 chr14 21860760 22008401 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHD8,METTL3,RAB2B,SALL2,SNORD8,TOX4 chr14 21905250 22011216 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,TOX4 chr14 21905250 22013288 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,TOX4 chr14 21905250 22017122 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHD8,METTL3,RAB2B,SALL2,TOX4 chr14 21909082 21909182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 21909844 22013577 Deletion Normal Affymetrix 6.0 microarrays 20967226 METTL3,RAB2B,SALL2,TOX4 chr14 21909844 22025556 Deletion Normal Affymetrix 6.0 microarrays 20967226 METTL3,RAB2B,SALL2,TOX4 chr14 21924890 21970760 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 METTL3,RAB2B,TOX4 chr14 21929710 22016220 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 METTL3,RAB2B,SALL2,TOX4 chr14 21942000 22033000 Deletion Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 METTL3,RAB2B,SALL2,TOX4 chr14 21942000 22033000 Deletion Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 METTL3,RAB2B,SALL2,TOX4 chr14 21942000 22033000 Deletion Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 METTL3,RAB2B,SALL2,TOX4 chr14 21951501 21952093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TOX4 chr14 21951507 21952099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TOX4 chr14 21961294 22090930 Gain and loss Pancreatic cancer SNP array 17952125 METTL3,OR10G3,SALL2,TOX4 chr14 21961377 21961873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOX4 chr14 21961377 21961873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOX4 chr14 21961642 22049326 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 METTL3,OR10G3,SALL2,TOX4 chr14 21961865 21977846 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 METTL3,TOX4 chr14 21969113 22012663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 METTL3,SALL2 chr14 21977379 21977386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL3 chr14 21977839 21977849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL3 chr14 21977843 21987936 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 METTL3 chr14 21977846 21987939 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 METTL3 chr14 21987945 21987957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21988921 21988971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 21989117 21989197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 21994081 21994128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SALL2 chr14 21995521 21995574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SALL2 chr14 21997930 21997988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SALL2 chr14 22001764 22003154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SALL2 chr14 22007873 22008446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22007873 22008446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22008051 22893753 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 OR10G2,OR10G3,OR4E2 chr14 22011989 22017743 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 22014146 22014204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22015383 22015435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22016536 22016598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22017701 22017763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22018350 22018411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22021116 22021175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22021833 22021898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22025056 22025124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22027421 22027480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22028316 22028371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22029319 22029381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22029666 22069902 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 OR10G3 chr14 22030052 22030515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 22031678 22031734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22032229 22032291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22032229 22032291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22032751 22032816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22033646 22033708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22034736 22034789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22035712 22035777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22036482 22036543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22036482 22036543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22038512 22038572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10G3 chr14 22038694 22045568 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 OR10G3 chr14 22040425 22040487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22041055 22041116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22042575 22042637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22043936 22043995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22045469 22045527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22046491 22046548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22047427 22047483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22047427 22047483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22048165 22048230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22048165 22048230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22049791 22049847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22049791 22049847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22051674 22051730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22052761 22052820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22054441 22054506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22054441 22054506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22055091 22055149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22055108 22089002 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 22057264 22057323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22057632 22057689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22058787 22058849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22059234 22059296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22060856 22060918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22062413 22062467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22063136 22063192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22064073 22064132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22064460 22064525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22064460 22064525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22065652 22065714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22067327 22067386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22068420 22068481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22069118 22069169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22069866 22069928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22069902 105685710 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL21D,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTHFD1,MYH6,MYH7,NAA30,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OR10G2,OR4E2,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PAPLN,PAPOLA,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,POLE2,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNF31,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD127,SNORD56B,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 22069902 22239552 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 OR10G2,OR4E2 chr14 22069902 26645554 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD4,ACIN1,ADCY4,AJUBA,AP1G2,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf93,CBLN3,CDH24,CEBPE,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4707,MMP14,MRPL52,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NRL,NYNRIN,OR10G2,OR4E2,OXA1L,PABPN1,PCK2,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RABGGTA,RBM23,REC8,REM2,RIPK3,RNF31,SDR39U1,SLC22A17,SLC7A7,SLC7A8,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 22070729 22070788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22071292 22071351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22071292 22071351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22072285 22072348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22074342 22074402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22074932 22074991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22076407 22076465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22077856 22077917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22079030 22079089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22079030 22079089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22080982 22081044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22081962 22082023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22082857 22082920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22083822 22083882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22086287 22089447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22086287 22089447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22088361 22199101 Copy number Lung cancer paired-end sequencing 18438408 OR10G2,OR4E2 chr14 22093034 22093223 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr14 22093405 22093505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 22099514 47749589 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,AP1G2,AP4S1,ARHGAP5,ARHGAP5-AS1,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf119,C14orf23,C14orf28,C14orf93,CBLN3,CDH24,CEBPE,CFL2,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,COCH,CPNE6,CTAGE5,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,EAPP,EFS,EGLN3,EMC9,FAM177A1,FAM179B,FANCM,FBXO33,FITM1,FKBP3,FOXA1,FOXG1,FSCB,G2E3,GEMIN2,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHL28,LINC00639,LINC00645,LOC100129794,LOC100288846,LOC100506071,LRFN5,LRP10,LRRC16B,LTB4R,LTB4R2,MBIP,MDGA2,MDP1,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4503,MIR4707,MIR548AI,MIR624,MIS18BP1,MMP14,MRPL52,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NFKBIA,NGDN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR4E2,OXA1L,PABPN1,PAX9,PCK2,PNN,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PRPF39,PSMA6,PSMB11,PSMB5,PSME1,PSME2,PTCSC3,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNF31,RPL10L,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC7A7,SLC7A8,SNORD127,SNX6,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TRAPPC6B,TSSK4,ZFHX2 chr14 22103646 22127983 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr14 22103647 22127969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22103647 22127970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22103647 22127970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22136804 22137277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22136986 22151104 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22136986 22151105 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr14 22136987 22151097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22136987 22151097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22157787 22184959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 22160823 22181395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 22164609 22184077 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 22164681 22169049 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 22164707 22168520 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 22172513 22173556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22172513 22173556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22173001 22181100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 22174954 22177788 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 22177885 22179110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 22211780 22226953 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr14 22219226 22346994 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr14 22265827 22284362 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 22278370 23705612 Gain and loss Barrett's syndrome BAC array 19417022 ABHD4,ACIN1,AJUBA,C14orf119,C14orf93,CDH24,CEBPE,DAD1,HAUS4,LRP10,MIR4707,MMP14,MRPL52,OXA1L,PRMT5,PSMB11,PSMB5,RBM23,REM2,SLC7A7,SLC7A8 chr14 22295810 22295877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22295810 22295878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42229927 42230027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr1 42229950 42230050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr14 22303034 22303174 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22303034 22303174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22305173 22315836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22305571 22310779 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22305571 22310832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22305571 22310832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22312271 22358854 Copy number Lysinuric protein intolerance exon direct sequencing multiplex ligation probe amplification (MLPA) assay 18716612 NOT_FOUND chr14 22312274 22358798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22312274 22358840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22312274 22358840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22314843 22350216 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 22333978 22352539 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 22348324 23222052 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD4,DAD1 chr14 22352001 22375000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 22356303 22361590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22362341 22591696 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr14 22368936 22374079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22368936 22374079 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22368936 22374079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22375001 22427500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 22375632 22386643 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 NOT_FOUND chr14 22375632 22386643 In Renal cell carcinoma MCG Whole Genome Array-4500 21228928 NOT_FOUND chr14 22375633 22386642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22375633 22386642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22375633 22386642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22391629 22391729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 22391665 22391777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22391667 22391777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22391668 22391777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22406867 22406964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22406867 22406965 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22406867 22406966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22410800 22417133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22410800 22417133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22410831 22436496 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22416901 22429541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 22422271 22426729 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 22422271 22426729 Gain or loss Cancer - 20668451 NOT_FOUND chr14 22422271 22426729 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 22422271 22426729 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 22422271 22426729 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 22422271 22426729 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 22422272 22426727 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22422272 22426729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22422272 22426729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22439695 22458236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22439695 22458236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22439746 22458214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22459573 22468501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22459573 22468501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22459579 22468501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22461563 22461804 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr14 22485277 22496197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22485278 22496197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22485278 22496197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22487400 22487475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 22495436 22495536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 22496940 22497001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22510249 22521691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22510249 22521691 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22510249 22521691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22525951 22549186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22525951 22549186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22525951 22549186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22530529 22530629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 22543104 22565799 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22564900 22573949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22564900 22573949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22564900 22573949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22572579 22572687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22580000 22830000 Loss Breast cancer aCGH 21509527 NOT_FOUND chr14 22581216 22582379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22581275 22582177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22586114 22596523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22586119 22596570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22586119 22596570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22591001 22597500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 22596069 22605187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22597616 22634663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22597616 22634663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22597616 22634663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22605958 28411024 Copy number Lung cancer paired-end sequencing 18438408 ABHD4,ACIN1,ADCY4,AJUBA,AP1G2,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf93,CBLN3,CDH24,CEBPE,CHMP4A,CIDEB,CMA1,CMTM5,CPNE6,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,GMPR2,GZMB,GZMH,HAUS4,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LRP10,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR4707,MMP14,MRPL52,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,OXA1L,PABPN1,PCK2,PPP1R3E,PRMT5,PSMB11,PSMB5,PSME1,PSME2,RABGGTA,RBM23,REC8,REM2,RIPK3,RNF31,SDR39U1,SLC22A17,SLC7A7,SLC7A8,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 22607158 22607258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 22618640 22618640 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr14 22634628 22639500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22634628 22639500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22634628 22639500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22656355 22658314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22656387 22658665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22656387 22658665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22664346 22722689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22664346 22722689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22664346 22722689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22673997 22706847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 22695358 22695463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22695361 22695463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22695362 22695463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22724365 22812526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42272958 42273058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr1 42278855 42279987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIVEP3 chr14 22798514 22798615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22798514 22798615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42280391 43508688 LOH Normal High-resolution SNP genotyping 21211785 C1orf50,CCDC23,CCDC30,CLDN19,ERMAP,FOXJ3,GUCA2A,GUCA2B,HIVEP3,LEPRE1,LOC100129924,PPCS,PPIH,RIMKLA,SLC2A1,SLC2A1-AS1,YBX1,ZMYND12,ZNF691 chr14 22807117 22807217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 22812684 22825149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22812684 22825149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22812684 22841897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22834970 22841897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22834970 22841897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22845851 22865209 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 22845852 22850806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22845852 22850806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22845866 22850798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22859337 22865202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22859337 22865202 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22859337 22865202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22860679 22861344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22871299 22871348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42288185 42290588 Gain and loss Pancreatic cancer SNP array 17952125 HIVEP3 chr14 22885352 22891961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22885352 22891961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22885368 22891920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22885501 22976500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 22895452 22904682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22895454 22904682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22895454 22904682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22896276 22896370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 22911858 22915445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22911858 22915445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22911858 22915445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22915857 22918820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22915857 22918820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22916085 22918821 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22920889 22946665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22920889 22946665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22921038 22946665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22926932 22956326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 22927639 22927721 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22927645 22927715 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22927645 22927715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22946378 22974710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22946378 22974710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22946965 22947065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42295034 42295134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr14 22951789 22974690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 22957036 22957112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42297455 42299488 Gain and loss Pancreatic cancer SNP array 17952125 HIVEP3 chr14 22976501 23192000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABHD4,DAD1 chr14 22979420 106368585 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,ADSSL1,AHNAK2,AHSA1,AJUBA,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CRIP1,CRIP2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INF2,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL21D,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTA1,MTHFD1,MYH6,MYH7,NAA30,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUDT14,NUMB,NYNRIN,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PACS2,PAPLN,PAPOLA,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,POLE2,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNF31,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD127,SNORD56B,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 22992087 22992486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 22994554 23017242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 22994554 23017242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23008750 23031122 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 42302961 42337564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HIVEP3 chr14 23056786 23056935 Gain and loss Pancreatic cancer SNP array 17952125 DAD1 chr14 23056786 23056935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAD1 chr14 23059939 23065654 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23059939 23065825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23059939 23065825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23069458 23074374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD4 chr14 23069712 23899621 LOH Normal High-resolution SNP genotyping 21211785 ABHD4,ACIN1,AJUBA,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf93,CDH24,CEBPE,CMTM5,EFS,HAUS4,HOMEZ,IL25,LRP10,MIR208A,MIR208B,MIR4707,MMP14,MRPL52,MYH6,MYH7,OXA1L,PABPN1,PPP1R3E,PRMT5,PSMB11,PSMB5,RBM23,REM2,SLC22A17,SLC7A7,SLC7A8 chr14 23081615 23082093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23095071 23098592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23095071 23098623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23095071 23098623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23096871 23096940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23096871 23096940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23098617 23107119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23098617 23107119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23098617 23117849 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23100814 23100897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 23107087 23117849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23107087 23117849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42311309 42469996 Gain and loss Pancreatic cancer SNP array 17952125 HIVEP3 chr14 23164483 23471589 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AJUBA,C14orf93,HAUS4,LRP10,MIR4707,MMP14,MRPL52,OXA1L,PRMT5,RBM23,REM2,SLC7A7 chr14 23164483 23471589 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AJUBA,C14orf93,HAUS4,LRP10,MIR4707,MMP14,MRPL52,OXA1L,PRMT5,RBM23,REM2,SLC7A7 chr14 23169163 23184688 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 NOT_FOUND chr14 23175413 23184686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23175413 23184686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23177914 23184686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23193776 23193881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 23205370 23234492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 42321984 42322084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr14 23222052 23495092 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AJUBA,C14orf93,HAUS4,LRP10,MIR4707,MMP14,MRPL52,OXA1L,PRMT5,PSMB5,RBM23,REM2,SLC7A7 chr14 23232161 23238011 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 OXA1L chr14 23244854 23245185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC7A7 chr14 23282698 23282798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC7A7 chr14 23289677 23290190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23330971 23331182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23330971 23331182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23330979 23331267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23346351 23346383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP10 chr14 23379146 24173378 LOH Normal High-resolution SNP genotyping 21211785 ACIN1,AJUBA,AP1G2,BCL2L2,BCL2L2-PABPN1,C14orf119,C14orf93,CDH24,CEBPE,CMTM5,DHRS2,EFS,HAUS4,HOMEZ,IL25,JPH4,MIR208A,MIR208B,MIR4707,MYH6,MYH7,NGDN,PABPN1,PPP1R3E,PRMT5,PSMB11,PSMB5,RBM23,SLC22A17,SLC7A8,THTPA,ZFHX2 chr14 23422233 23422299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HAUS4 chr14 23454951 23455051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 23461296 23473617 Gain and loss Pancreatic cancer SNP array 17952125 C14orf93 chr14 23461309 23473617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf93 chr14 23461309 23473617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf93 chr14 23470405 23545470 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf93,CDH24,PSMB11,PSMB5 chr14 23471584 23545324 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf93,CDH24,PSMB11,PSMB5 chr14 23471626 23539729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf93,CDH24,PSMB11,PSMB5 chr14 23475038 23545053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf93,CDH24,PSMB11,PSMB5 chr14 23475733 23545904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf93,CDH24,PSMB11,PSMB5 chr14 23477780 23479036 Gain and loss Pancreatic cancer SNP array 17952125 C14orf93 chr14 23477780 23479036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf93 chr14 23479414 23492716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23480685 23502008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMB5 chr14 23490309 23490531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23490309 23490531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23491216 23522458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH24,PSMB11,PSMB5 chr14 23492805 23508326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMB5 chr14 23492805 23508326 Gain and loss Pancreatic cancer SNP array 17952125 PSMB5 chr14 23492805 23508326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMB5 chr14 23493753 23540007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,CDH24,PSMB11,PSMB5 chr14 23495092 24013868 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACIN1,BCL2L2,BCL2L2-PABPN1,C14orf119,CDH24,CEBPE,CMTM5,EFS,HOMEZ,IL25,MIR208A,MIR208B,MYH6,MYH7,NGDN,PABPN1,PPP1R3E,PSMB11,PSMB5,SLC22A17,SLC7A8,THTPA,ZFHX2 chr14 23499138 23554299 Gain Normal Birdsuite, version 1.5.2 22087296 ACIN1,CDH24,PSMB11,PSMB5 chr14 23499453 23574945 Loss Normal 244K array 17666407 ACIN1,C14orf119,CDH24,PSMB11,PSMB5 chr14 23501010 23516858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH24,PSMB11,PSMB5 chr14 23505453 23550044 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,CDH24,PSMB11 chr14 23508054 23545183 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 ACIN1,CDH24,PSMB11 chr14 23508357 23553387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,CDH24,PSMB11 chr14 23511794 23555422 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,CDH24,PSMB11 chr14 23513191 23559885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,CDH24,PSMB11 chr14 23514657 23557971 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ACIN1,CDH24 chr14 23515375 23560353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,CDH24 chr14 23516318 23517044 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CDH24 chr14 23516932 23517017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH24 chr14 23517541 23561738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,CDH24 chr14 23522529 23554299 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACIN1,CDH24 chr14 23522939 23559939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,CDH24 chr14 23527867 23545457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACIN1 chr14 23527867 23545457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACIN1 chr14 23527959 23545444 Gain and loss Pancreatic cancer SNP array 17952125 ACIN1 chr14 23534563 23572343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf119 chr14 23537686 23579730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf119 chr14 23538902 23582529 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf119 chr14 23539508 23574552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf119 chr14 23539868 23581706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf119 chr14 23540969 23543269 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 ACIN1 chr14 23543139 23574790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1,C14orf119 chr14 23545251 23547000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACIN1 chr14 23551384 23556443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1 chr14 23554299 23557983 Gain Normal Birdsuite, version 1.5.2 22087296 ACIN1 chr14 23554663 23560817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACIN1 chr14 23557983 23569582 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ACIN1,C14orf119 chr14 23564072 23570666 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ACIN1,C14orf119 chr14 23569582 23570841 Gain or loss Normal Birdsuite, version 1.5.2 22087296 C14orf119 chr14 23590501 23982000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L2,BCL2L2-PABPN1,CMTM5,EFS,HOMEZ,IL25,MIR208A,MIR208B,MYH6,MYH7,NGDN,PABPN1,PPP1R3E,SLC22A17,SLC7A8,THTPA chr14 23591046 23608756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC7A8 chr14 23591046 23608756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A8 chr14 23594132 23595441 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A8 chr14 23596264 23608775 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A8 chr14 23598321 23598421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC7A8 chr14 23600000 31800000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 31800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 31800000 Copy number Normal - 21701786 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 31800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 31800000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 31800000 Gain Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 31800000 Loss Cancer array-based techniques 21183584 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 31800000 Loss Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 31800000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ADCY4,AP1G2,AP4S1,BCL2L2,BCL2L2-PABPN1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EFS,EMC9,FITM1,FOXG1,G2E3,GMPR2,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IL25,IPO4,IRF9,JPH4,KHNYN,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NGDN,NOP9,NOVA1,NRL,NYNRIN,PABPN1,PCK2,PPP1R3E,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 36900000 Gain Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ADCY4,AKAP6,AP1G2,AP4S1,ARHGAP5,ARHGAP5-AS1,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf23,CBLN3,CFL2,CHMP4A,CIDEB,CMA1,CMTM5,COCH,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,EAPP,EFS,EGLN3,EMC9,FAM177A1,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,LINC00645,LOC100506071,LRRC16B,LTB4R,LTB4R2,MBIP,MDP1,MIR208A,MIR208B,MIR4307,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NFKBIA,NGDN,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,PABPN1,PCK2,PPP1R3E,PPP2R3C,PRKD1,PSMA6,PSME1,PSME2,PTCSC3,RABGGTA,RALGAPA1,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SLC22A17,SLC7A8,SNX6,SPTSSA,SRP54,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 23600000 41000000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 ADCY4,AKAP6,AP1G2,AP4S1,ARHGAP5,ARHGAP5-AS1,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf23,CBLN3,CFL2,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,COCH,CPNE6,CTAGE5,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,EAPP,EFS,EGLN3,EMC9,FAM177A1,FBXO33,FITM1,FOXA1,FOXG1,G2E3,GEMIN2,GMPR2,GPR33,GZMB,GZMH,HEATR5A,HECTD1,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,LINC00639,LINC00645,LOC100129794,LOC100288846,LOC100506071,LRRC16B,LTB4R,LTB4R2,MBIP,MDP1,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4503,MIR548AI,MIR624,MYH6,MYH7,NEDD8,NEDD8-MDP1,NFATC4,NFKBIA,NGDN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,PABPN1,PAX9,PCK2,PNN,PPP1R3E,PPP2R3C,PRKD1,PSMA6,PSME1,PSME2,PTCSC3,RABGGTA,RALGAPA1,REC8,RIPK3,RNF31,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC7A8,SNX6,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TRAPPC6B,TSSK4,ZFHX2 chr14 23609961 23617149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC7A8 chr14 23609961 23617149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A8 chr14 23609998 23617135 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A8 chr14 23619156 23654063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC7A8 chr14 23619156 23654063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A8 chr14 23619216 23654063 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A8 chr14 23633323 23643179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC7A8 chr14 23633323 23643179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A8 chr14 23633362 23643177 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A8 chr14 23640730 23640830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC7A8 chr14 23642920 23649011 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SLC7A8 chr14 23653848 23664291 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 23653861 23664288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23653861 23664288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23653861 23664290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23670515 23671898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23670515 23671898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23670608 23671898 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23675218 23678015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23675218 23678015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23675218 23678015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23677961 23686270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23678009 23680634 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23678015 23680637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23678015 23680637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23682414 23685695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23682414 23685695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23686499 23699710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23686579 23706451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23690267 23706451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23690267 23706451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23697652 23697771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23697652 23697773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23697653 23697770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23710942 23719299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23710942 23719299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23711074 23719302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23719266 23727868 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23719272 23727964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23719272 23727964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23720607 23725584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 23723043 23735813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 23728203 23734722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23728203 23734722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23728256 23734702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 42374208 42375208 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 HIVEP3 chr14 23744743 23747292 Gain and loss Pancreatic cancer SNP array 17952125 HOMEZ chr14 23744802 23747292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOMEZ chr14 23744802 23747292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMEZ chr14 23748627 23753025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOMEZ chr14 23748627 23753025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMEZ chr14 23748692 23755111 Gain and loss Pancreatic cancer SNP array 17952125 HOMEZ chr14 23753002 23755081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOMEZ chr14 23753002 23755081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMEZ chr14 23755897 23771412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R3E chr14 23755897 23771412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R3E chr14 23755912 23771412 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R3E chr1 42376011 42579327 Substitutions and indels small cell lung cancer array-CGH 20016488 HIVEP3 chr14 23769591 23769691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R3E chr14 23771488 23778285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L2,BCL2L2-PABPN1,PPP1R3E chr14 23771488 23778285 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L2,BCL2L2-PABPN1,PPP1R3E chr14 23771488 23778285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L2,BCL2L2-PABPN1,PPP1R3E chr14 23775055 23775145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 23778693 23781664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L2,BCL2L2-PABPN1 chr14 23778693 23781678 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L2,BCL2L2-PABPN1 chr14 23788159 23802256 Insertion Intestinal disease References 22138850 BCL2L2-PABPN1,PABPN1 chr14 23788160 23802256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L2-PABPN1,PABPN1 chr14 23788160 23802256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L2-PABPN1,PABPN1 chr14 23788162 23802212 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L2-PABPN1,PABPN1 chr1 42378894 42379637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIVEP3 chr14 23803011 23830604 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EFS,SLC22A17 chr14 23804586 23810643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23804661 23810643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23804661 23810643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42381538 42381638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr14 23817886 23817918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC22A17 chr14 23821589 23821644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC22A17 chr14 23822044 23822124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC22A17 chr14 23829646 23838770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFS chr14 23829646 23838770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFS chr14 23829649 23838815 Gain and loss Pancreatic cancer SNP array 17952125 EFS chr14 23833230 23833314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFS chr14 23838908 23848170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMTM5,IL25 chr14 23838908 23848170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM5,IL25 chr14 23838908 23850798 Gain and loss Pancreatic cancer SNP array 17952125 CMTM5,IL25 chr14 23844241 23850468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMTM5,IL25 chr14 23844241 23850468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM5,IL25 chr14 23844241 23850495 Gain and loss Pancreatic cancer SNP array 17952125 CMTM5,IL25 chr14 23848001 23850798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMTM5 chr14 23848001 23850798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM5 chr14 23850545 23857082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH6 chr14 23850545 23857082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH6 chr14 23851199 23877482 Amplificationlication Congenital heart defects PCR 20656787 MIR208A,MYH6 chr14 23852357 23855990 Gain and loss Pancreatic cancer SNP array 17952125 MYH6 chr14 23857395 23874117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR208A,MYH6 chr14 23857395 23874117 Gain and loss Pancreatic cancer SNP array 17952125 MIR208A,MYH6 chr14 23857395 23874117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR208A,MYH6 chr14 23860976 24099355 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AP1G2,JPH4,MIR208B,MYH6,MYH7,NGDN,THTPA,ZFHX2 chr14 23860976 24099355 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AP1G2,JPH4,MIR208B,MYH6,MYH7,NGDN,THTPA,ZFHX2 chr14 23875068 23879082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH6 chr14 23875068 23879082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH6 chr14 23875072 23879036 Gain and loss Pancreatic cancer SNP array 17952125 MYH6 chr14 23891103 23891203 Gain and loss Pancreatic cancer SNP array 17952125 MYH7 chr14 23891103 23891203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH7 chr14 23907092 23918645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23907094 23918645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23907094 23918645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42391001 42412000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIVEP3 chr1 42391679 42394082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIVEP3 chr1 42391679 42394082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIVEP3 chr14 23937832 23958975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NGDN chr14 23946954 23958328 Gain and loss Pancreatic cancer SNP array 17952125 NGDN chr14 23952047 23952147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 23955209 23957388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23965582 23968571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23965582 23968571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23965595 23968571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23968333 23977453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 23968981 23980385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23968981 23980385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 23978462 23978678 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 23978814 23992187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THTPA,ZFHX2 chr14 23978814 23998292 Gain and loss Pancreatic cancer SNP array 17952125 THTPA,ZFHX2 chr14 23984668 24007478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THTPA,ZFHX2 chr14 24002460 24002623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THTPA,ZFHX2 chr1 42400949 42402982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIVEP3 chr1 42400949 42402982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIVEP3 chr14 24013868 25925148 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADCY4,AP1G2,CBLN3,CHMP4A,CIDEB,CMA1,CPNE6,CTSG,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EMC9,FITM1,GMPR2,GZMB,GZMH,IPO4,IRF9,JPH4,KHNYN,LRRC16B,LTB4R,LTB4R2,MDP1,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NRL,NYNRIN,PCK2,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SDR39U1,STXBP6,TGM1,THTPA,TINF2,TM9SF1,TSSK4,ZFHX2 chr14 24044552 24047311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JPH4 chr14 24044552 24047311 Gain and loss Pancreatic cancer SNP array 17952125 JPH4 chr14 24044552 24047311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JPH4 chr14 24096030 24096088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24112564 24115306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHRS2 chr14 24112564 24115306 Gain and loss Pancreatic cancer SNP array 17952125 DHRS2 chr14 24112564 24115306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS2 chr14 24117041 24117141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24137618 24137718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24139961 24140061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24145533 24148704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 24145534 24148704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 24145534 24148704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42414796 42574135 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 HIVEP3 chr1 42414797 42574135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIVEP3 chr1 42414797 42574135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIVEP3 chr14 24170004 24173272 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 24170017 24173313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 24170017 24173313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 24170707 24170807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24173502 25939968 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCY4,CBLN3,CHMP4A,CIDEB,CMA1,CPNE6,CTSG,DCAF11,DHRS1,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EMC9,FITM1,GMPR2,GZMB,GZMH,IPO4,IRF9,KHNYN,LRRC16B,LTB4R,LTB4R2,MDP1,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NRL,NYNRIN,PCK2,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SDR39U1,STXBP6,TGM1,TINF2,TM9SF1,TSSK4 chr14 24232212 25180056 LOH Normal High-resolution SNP genotyping 21211785 ADCY4,CBLN3,CHMP4A,CIDEB,CMA1,CPNE6,CTSG,DCAF11,DHRS1,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EMC9,FITM1,GMPR2,GZMB,GZMH,IPO4,IRF9,KHNYN,LRRC16B,LTB4R,LTB4R2,MDP1,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NRL,NYNRIN,PCK2,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SDR39U1,TGM1,TINF2,TM9SF1,TSSK4 chr14 24252462 24252557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24331988 24333066 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 24331988 24333066 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr14 24332175 24332964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 24348702 24589110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPNE6,DCAF11,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,LRRC16B,NRL,PCK2 chr14 24348702 24589110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE6,DCAF11,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,LRRC16B,NRL,PCK2 chr14 24348708 24589110 Gain and loss Pancreatic cancer SNP array 17952125 CPNE6,DCAF11,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,LRRC16B,NRL,PCK2 chr14 24351143 24589011 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 CPNE6,DCAF11,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,LRRC16B,NRL,PCK2 chr14 24390892 30378650 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADCY4,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,CPNE6,CTSG,DCAF11,DHRS1,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,EMC9,FITM1,FOXG1,GMPR2,GZMB,GZMH,IPO4,IRF9,KHNYN,LINC00645,LRRC16B,LTB4R,LTB4R2,MDP1,MIR4307,MIR548AI,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NOVA1,NRL,NYNRIN,PCK2,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SDR39U1,STXBP6,TGM1,TINF2,TM9SF1,TSSK4 chr1 42439646 42439746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIVEP3 chr14 24396517 24396576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24430215 27261761 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCY4,CBLN3,CHMP4A,CIDEB,CMA1,CPNE6,CTSG,DCAF11,DHRS1,DHRS4,DHRS4L1,DHRS4L2,EMC9,FITM1,GMPR2,GZMB,GZMH,IPO4,IRF9,KHNYN,LRRC16B,LTB4R,LTB4R2,MDP1,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NOVA1,NRL,NYNRIN,PCK2,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SDR39U1,STXBP6,TGM1,TINF2,TM9SF1,TSSK4 chr14 24430899 24445375 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHRS4,DHRS4L2 chr1 42448392 42448564 Gain and loss Pancreatic cancer SNP array 17952125 HIVEP3 chr14 24487404 24487898 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr14 24524348 24524443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC16B chr14 24600000 33300000 Deletion Chronic myeloid leukemia Array CGH 16756668 ADCY4,AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,COCH,CTSG,DHRS1,DTD2,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HEATR5A,HECTD1,IPO4,IRF9,KHNYN,LINC00645,LOC100506071,LTB4R,LTB4R2,MDP1,MIR4307,MIR548AI,MIR624,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NOVA1,NUBPL,NYNRIN,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,STRN3,STXBP6,TGM1,TINF2,TM9SF1,TSSK4 chr14 24600000 33300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ADCY4,AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,COCH,CTSG,DHRS1,DTD2,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HEATR5A,HECTD1,IPO4,IRF9,KHNYN,LINC00645,LOC100506071,LTB4R,LTB4R2,MDP1,MIR4307,MIR548AI,MIR624,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NOVA1,NUBPL,NYNRIN,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,STRN3,STXBP6,TGM1,TINF2,TM9SF1,TSSK4 chr14 24600000 33300000 Deletion Sudden cardiac death CGH 19188705 ADCY4,AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,COCH,CTSG,DHRS1,DTD2,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HEATR5A,HECTD1,IPO4,IRF9,KHNYN,LINC00645,LOC100506071,LTB4R,LTB4R2,MDP1,MIR4307,MIR548AI,MIR624,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NOVA1,NUBPL,NYNRIN,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,STRN3,STXBP6,TGM1,TINF2,TM9SF1,TSSK4 chr14 24600000 33300000 Loss and deletion Multiple myeloma Array CGH 16616336 ADCY4,AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,COCH,CTSG,DHRS1,DTD2,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HEATR5A,HECTD1,IPO4,IRF9,KHNYN,LINC00645,LOC100506071,LTB4R,LTB4R2,MDP1,MIR4307,MIR548AI,MIR624,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NOVA1,NUBPL,NYNRIN,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,STRN3,STXBP6,TGM1,TINF2,TM9SF1,TSSK4 chr14 24600000 33300000 Loss Pilocytic astrocytoma Affymetrix GeneChip HG_U133A 18670637 ADCY4,AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,CBLN3,CHMP4A,CIDEB,CMA1,COCH,CTSG,DHRS1,DTD2,EMC9,FITM1,FOXG1,G2E3,GMPR2,GPR33,GZMB,GZMH,HEATR5A,HECTD1,IPO4,IRF9,KHNYN,LINC00645,LOC100506071,LTB4R,LTB4R2,MDP1,MIR4307,MIR548AI,MIR624,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NOVA1,NUBPL,NYNRIN,PRKD1,PSME1,PSME2,RABGGTA,REC8,RIPK3,RNF31,SCFD1,SDR39U1,STRN3,STXBP6,TGM1,TINF2,TM9SF1,TSSK4 chr14 24623954 24624054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF31 chr14 24630692 24745489 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CHMP4A,GMPR2,IPO4,IRF9,MDP1,NEDD8,NEDD8-MDP1,RABGGTA,REC8,TGM1,TINF2,TM9SF1,TSSK4 chr14 24652962 24653062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IPO4 chr14 24667501 25957800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCY4,CBLN3,CHMP4A,CIDEB,CMA1,CTSG,DHRS1,GMPR2,GZMB,GZMH,KHNYN,LTB4R,LTB4R2,MDP1,NEDD8,NEDD8-MDP1,NFATC4,NOP9,NYNRIN,RABGGTA,RIPK3,SDR39U1,STXBP6,TGM1,TINF2,TSSK4 chr14 24794305 24794399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY4 chr14 24794313 24794413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY4 chr14 24806110 24806382 Gain and loss Pancreatic cancer SNP array 17952125 RIPK3 chr14 24806110 24806382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIPK3 chr14 24835856 24835895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24892287 24892349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 24896986 24897065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBLN3 chr14 25075637 25075887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GZMH chr1 42512807 42512905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42513801 42517800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 42515570 42549936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 25165158 25165258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 25216941 25217297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 25257369 25257469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 25297720 25474958 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 STXBP6 chr14 25345694 25345758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP6 chr14 25347081 25347181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP6 chr14 25347676 28443093 Loss Urothelial carcinoma array CGH validated by FISH 21177765 LINC00645,MIR4307,NOVA1,STXBP6 chr14 25353287 25354619 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 STXBP6 chr14 25353714 25354639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STXBP6 chr14 25363294 25363392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP6 chr14 25366811 25401012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STXBP6 chr14 25381007 25381087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP6 chr14 25387320 25387420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP6 chr14 25465273 25465373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP6 chr14 25489734 25489832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP6 chr1 42551886 42552058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 25569587 106368585 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKAP6,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP4S1,AP5M1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKL1,CDKN3,CEP128,CFL2,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLEC14A,CLMN,CNIH,COCH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CTAGE5,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,EFCAB11,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,INF2,INSM2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MED6,MEG3,MEG8,MEG9,METTL21D,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NFKBIA,NGB,NID2,NIN,NKX2-1,NKX2-8,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRXN3,NUBPL,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PAX9,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,POLE2,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMC1,PSMC6,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RALGAPA1,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD127,SNORD56B,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 25581592 25581692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 25581756 25581930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 25623302 25623393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42565181 42591031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 25660799 25662231 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 25710560 25710660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 25711212 25711304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 25726545 25726645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 25740949 25741049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 25747022 25747325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 25747082 25747389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 4257501 4327500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 25771448 25771758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 25781735 26351323 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 25832761 25849239 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 42583395 42584395 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr1 42584427 44255643 Substitutions and indels small cell lung cancer array-CGH 20016488 C1orf210,C1orf50,CCDC23,CCDC30,CDC20,CLDN19,EBNA1BP2,ELOVL1,ERMAP,FAM183A,FOXJ3,GUCA2A,GUCA2B,HYI,KDM4A,KDM4A-AS1,LEPRE1,LOC100129924,MED8,MPL,PPCS,PPIH,PTPRF,RIMKLA,SLC2A1,SLC2A1-AS1,ST3GAL3,SZT2,TIE1,TMEM125,WDR65,YBX1,ZMYND12,ZNF691 chr14 25849205 25899111 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 25849206 25854752 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr14 25849470 25864932 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 25849470 25899111 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 25869167 25869267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 25891713 25891808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 25904285 25904385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42591323 42595178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 25922842 25923163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 25925148 27945644 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MIR4307,NOVA1 chr14 25984929 26136800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 25984929 26136800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 25984929 26136800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 25987005 26136535 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 26023126 26023226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 26046642 26046853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 26046732 26046832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 26146806 29078865 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00645,MIR4307,NOVA1 chr1 42617458 42672730 Gain and loss Pancreatic cancer SNP array 17952125 FOXJ3,GUCA2A,GUCA2B chr1 42619064 42653437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3,GUCA2A,GUCA2B chr1 42619064 42653437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3,GUCA2A,GUCA2B chr14 26329356 26329449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42634969 42635103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 42639316 42639416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 26400955 26401055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42640117 42640217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 26466699 26466821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 26487463 26487613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42650656 42651052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3 chr14 26520000 43840000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,BAZ1A,BRMS1L,C14orf23,CFL2,CLEC14A,COCH,CTAGE5,DTD2,EAPP,EGLN3,FAM177A1,FBXO33,FOXA1,FOXG1,G2E3,GEMIN2,GPR33,HEATR5A,HECTD1,IGBP1P1,INSM2,KIAA0391,LINC00639,LINC00645,LOC100129794,LOC100288846,LOC100506071,LRFN5,MBIP,MIA2,MIPOL1,MIR4307,MIR4503,MIR548AI,MIR624,NFKBIA,NKX2-1,NKX2-8,NOVA1,NPAS3,NUBPL,PAX9,PNN,PPP2R3C,PRKD1,PSMA6,PTCSC3,RALGAPA1,SCFD1,SEC23A,SFTA3,SLC25A21,SNX6,SPTSSA,SRP54,SSTR1,STRN3,TRAPPC6B chr14 26550303 26551303 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 26558249 26559249 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 26587979 26588979 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 26589758 26862564 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr14 26605274 45120624 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,BAZ1A,BRMS1L,C14orf23,CFL2,CLEC14A,COCH,CTAGE5,DTD2,EAPP,EGLN3,FAM177A1,FBXO33,FOXA1,FOXG1,FSCB,G2E3,GEMIN2,GPR33,HEATR5A,HECTD1,IGBP1P1,INSM2,KIAA0391,LINC00639,LINC00645,LOC100129794,LOC100288846,LOC100506071,LRFN5,MBIP,MIA2,MIPOL1,MIR4307,MIR4503,MIR548AI,MIR624,NFKBIA,NKX2-1,NKX2-8,NOVA1,NPAS3,NUBPL,PAX9,PNN,PPP2R3C,PRKD1,PSMA6,PTCSC3,RALGAPA1,SCFD1,SEC23A,SFTA3,SLC25A21,SNX6,SPTSSA,SRP54,SSTR1,STRN3,TRAPPC6B chr14 26649583 26668874 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 42668675 42694525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3 chr1 42668675 42694525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3 chr14 26696673 26696773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42673931 42788792 Gain and loss Pancreatic cancer SNP array 17952125 FOXJ3 chr14 26753237 26753337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 26784729 26784824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 26808881 26831175 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 26815603 26831175 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 26859879 95241049 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,AKAP6,ALDH6A1,ALKBH1,ANGEL1,AP4S1,AP5M1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARID4A,ASB2,ATG14,ATL1,ATP5S,ATP6V1D,ATXN3,BATF,BAZ1A,BMP4,BRMS1L,BTBD7,C14orf1,C14orf101,C14orf105,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf178,C14orf182,C14orf183,C14orf23,C14orf28,C14orf37,C14orf39,CALM1,CATSPERB,CCDC175,CCDC176,CCDC88C,CDKL1,CDKN3,CEP128,CFL2,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CLEC14A,CNIH,COCH,COQ6,COX16,COX8C,CPSF2,CTAGE5,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DHRS7,DIO2,DIO2-AS1,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,DTD2,EAPP,EFCAB11,EGLN3,EIF2B2,EIF2S1,ELMSAN1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSTZ1,GTF2A1,HEATR4,HEATR5A,HECTD1,HIF1A,HIF1A-AS2,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,INSM2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00520,LINC00521,LINC00639,LINC00640,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MBIP,MDGA2,MED6,METTL21D,MGAT2,MIA2,MIPOL1,MIR1260A,MIR4307,MIR4308,MIR4503,MIR4505,MIR4706,MIR4708,MIR4709,MIR548AI,MIR548Y,MIR5580,MIR624,MIS18BP1,MLH3,MNAT1,MOAP1,MPP5,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NFKBIA,NGB,NID2,NIN,NKX2-1,NKX2-8,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRXN3,NUBPL,NUMB,OTUB2,OTX2,OTX2-AS1,PAPLN,PAX9,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,POLE2,POMT2,PPM1A,PPP1R36,PPP2R3C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMC1,PSMC6,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RALGAPA1,RBM25,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SCFD1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SFTA3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A21,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNORA11B,SNORA79,SNORD127,SNORD56B,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STYX,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TDP1,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TOMM20L,TRAPPC6B,TRIM9,TRIP11,TRMT5,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 26885721 26887441 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 26908812 30254928 Gain Epilepsy array CGH 20736978 C14orf23,FOXG1,LINC00645,MIR4307,MIR548AI,NOVA1,PRKD1 chr14 26908812 30254928 Gain Mental retardation array CGH 20736978 C14orf23,FOXG1,LINC00645,MIR4307,MIR548AI,NOVA1,PRKD1 chr14 26908812 30254928 Gain speech impairment array CGH 20736978 C14orf23,FOXG1,LINC00645,MIR4307,MIR548AI,NOVA1,PRKD1 chr14 26915136 26915236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOVA1 chr14 26942844 27257441 Copy number Lung cancer paired-end sequencing 18438408 NOVA1 chr1 42694375 42698673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3 chr1 42694375 42698673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3 chr14 26949790 26949838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOVA1 chr1 42701612 42892444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3,RIMKLA chr1 42701612 42892444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3,RIMKLA chr1 42703797 42703903 Gain and loss Pancreatic cancer SNP array 17952125 FOXJ3 chr1 42703798 42703903 Gain and loss Pancreatic cancer SNP array 17952125 FOXJ3 chr14 27046455 27074979 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOVA1 chr14 27055944 27056037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOVA1 chr14 27134939 27513082 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4307 chr14 27134939 27513082 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4307 chr14 27184334 27184434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 27187528 27187606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 27202400 27241801 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 27203988 27224394 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 27272701 55429028 Copy number Lung cancer paired-end sequencing 18438408 ABHD12B,AKAP6,AP4S1,ARF6,ARHGAP5,ARHGAP5-AS1,ATL1,ATP5S,BAZ1A,BMP4,BRMS1L,C14orf166,C14orf182,C14orf183,C14orf23,C14orf28,CDKL1,CDKN3,CFL2,CGRRF1,CLEC14A,CNIH,COCH,CTAGE5,DDHD1,DNAAF2,DTD2,EAPP,EGLN3,ERO1L,FAM177A1,FAM179B,FANCM,FBXO33,FERMT2,FKBP3,FOXA1,FOXG1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,G2E3,GCH1,GEMIN2,GMFB,GNG2,GNPNAT1,GPR137C,GPR33,HEATR5A,HECTD1,IGBP1P1,INSM2,KIAA0391,KLHDC1,KLHDC2,KLHL28,L2HGDH,LINC00639,LINC00640,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100506071,LRFN5,LRR1,MAP4K5,MBIP,MDGA2,METTL21D,MGAT2,MIA2,MIPOL1,MIR4307,MIR4308,MIR4503,MIR548AI,MIR548Y,MIR5580,MIR624,MIS18BP1,NEMF,NFKBIA,NID2,NIN,NKX2-1,NKX2-8,NPAS3,NUBPL,PAX9,PNN,POLE2,PPP2R3C,PRKD1,PRPF39,PSMA6,PSMC6,PTCSC3,PTGDR,PTGER2,PYGL,RALGAPA1,RPL10L,RPL36AL,RPS29,SAMD4A,SAV1,SCFD1,SEC23A,SFTA3,SLC25A21,SNORD127,SNX6,SOS2,SPTSSA,SRP54,SSTR1,STRN3,STYX,TMX1,TRAPPC6B,TRIM9,TXNDC16,WDHD1 chr14 27274215 27394959 Substitutions and indels small cell lung cancer array-CGH 20016488 MIR4307 chr14 27292065 27398635 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MIR4307 chr1 42729997 42730751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3 chr14 27308320 27330006 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr14 27310291 27513082 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4307 chr1 42738463 42738597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXJ3 chr14 27401655 34663947 Substitutions and indels small cell lung cancer array-CGH 20016488 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,COCH,DTD2,EGLN3,FOXG1,G2E3,GPR33,HEATR5A,HECTD1,LINC00645,LOC100506071,MIR548AI,MIR624,NPAS3,NUBPL,PRKD1,SCFD1,STRN3 chr1 4274 19669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX11L1,WASH7P chr14 27466169 27466254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 27474978 30603041 Gain Epilepsy array CGH 20736978 C14orf23,FOXG1,LINC00645,MIR548AI,PRKD1 chr14 27474978 30603041 Gain Mental retardation array CGH 20736978 C14orf23,FOXG1,LINC00645,MIR548AI,PRKD1 chr14 27474978 30603041 Gain speech impairment array CGH 20736978 C14orf23,FOXG1,LINC00645,MIR548AI,PRKD1 chr14 27488328 27488428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 27529051 27529161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 27554868 27554968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 27599022 29263897 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C14orf23,FOXG1,LINC00645 chr14 27653581 27653681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 27661974 27662974 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 27664758 27665758 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 27671101 27672101 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 27720428 27720508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 27737147 27743386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 27738124 27740489 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 27750471 27750864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 27753731 27753831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 27803511 27804094 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 27803511 27804094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42780788 42781110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FOXJ3 chr14 27849111 27894284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 27876136 27876236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42793141 42811521 Gain and loss Pancreatic cancer SNP array 17952125 FOXJ3 chr14 27936573 27957226 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 27937491 27965033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 27939595 27941911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 27939635 27942908 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 27940488 27940611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 27940488 27940611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 27945644 30375700 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C14orf23,FOXG1,LINC00645,MIR548AI,PRKD1 chr14 27963151 27996997 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 27975724 27975824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 28035541 28917623 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 LINC00645 chr14 28036533 28036633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 28044876 28044970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 280638 280822 Copy number Autism exome sequencing 22495311 NOT_FOUND chr1 42807291 42807397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42809214 42809621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42817194 42837114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 28217364 34635622 Gain Epilepsy array CGH 20736978 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,COCH,DTD2,EGLN3,FOXG1,G2E3,GPR33,HEATR5A,HECTD1,LOC100506071,MIR548AI,MIR624,NPAS3,NUBPL,PRKD1,SCFD1,STRN3 chr14 28217364 34635622 Gain Mental retardation array CGH 20736978 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,COCH,DTD2,EGLN3,FOXG1,G2E3,GPR33,HEATR5A,HECTD1,LOC100506071,MIR548AI,MIR624,NPAS3,NUBPL,PRKD1,SCFD1,STRN3 chr14 28217364 34635622 Gain speech impairment array CGH 20736978 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,COCH,DTD2,EGLN3,FOXG1,G2E3,GPR33,HEATR5A,HECTD1,LOC100506071,MIR548AI,MIR624,NPAS3,NUBPL,PRKD1,SCFD1,STRN3 chr14 28257153 35048345 Gain Epilepsy array CGH 20736978 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,COCH,DTD2,EAPP,EGLN3,FOXG1,G2E3,GPR33,HEATR5A,HECTD1,LOC100506071,MIR548AI,MIR624,NPAS3,NUBPL,PRKD1,SCFD1,SNX6,SPTSSA,STRN3 chr14 28257153 35048345 Gain Mental retardation array CGH 20736978 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,COCH,DTD2,EAPP,EGLN3,FOXG1,G2E3,GPR33,HEATR5A,HECTD1,LOC100506071,MIR548AI,MIR624,NPAS3,NUBPL,PRKD1,SCFD1,SNX6,SPTSSA,STRN3 chr14 28257153 35048345 Gain speech impairment array CGH 20736978 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,C14orf23,COCH,DTD2,EAPP,EGLN3,FOXG1,G2E3,GPR33,HEATR5A,HECTD1,LOC100506071,MIR548AI,MIR624,NPAS3,NUBPL,PRKD1,SCFD1,SNX6,SPTSSA,STRN3 chr14 28304801 28308621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 28304801 28309230 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 28304801 28309230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 28304801 28309230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 28306037 28308622 Copy number Lung cancer - 20668451 NOT_FOUND chr14 28306037 28308622 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 28306037 28308622 Gain or loss Cancer - 20668451 NOT_FOUND chr14 28306037 28308622 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 28306037 28308622 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 28306037 28308622 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 28306037 28308622 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 28306805 28340584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 28311661 28332126 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 28311661 28332126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 28311754 28332126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 28356799 28359803 Loss Normal 244K array 17666407 NOT_FOUND chr14 28425374 29857188 Copy number Lung cancer paired-end sequencing 18438408 C14orf23,FOXG1 chr14 28440193 28440304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 28440195 28440304 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 28521290 28521367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 28521290 28521367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 28538245 28538359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 28581578 28768137 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 NOT_FOUND chr14 28622757 28622857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 28631745 28631845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 28643626 28643726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42867857 42875018 Gain and loss Pancreatic cancer SNP array 17952125 RIMKLA chr14 28723349 28724349 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 28743412 28744412 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 28745622 28746622 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 28746840 101366386 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AK7,AKAP5,AKAP6,ALDH6A1,ALKBH1,ANGEL1,AP4S1,AP5M1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARID4A,ASB2,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BATF,BAZ1A,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRMS1L,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf182,C14orf183,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDKL1,CDKN3,CEP128,CFL2,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CLEC14A,CLMN,CNIH,COCH,COQ6,COX16,COX8C,CPSF2,CTAGE5,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,EAPP,EFCAB11,EGLN3,EIF2B2,EIF2S1,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,INSM2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00341,LINC00520,LINC00521,LINC00523,LINC00617,LINC00639,LINC00640,LINC00642,LINC00643,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MBIP,MDGA2,MED6,MEG3,MEG8,METTL21D,MGAT2,MIA2,MIPOL1,MIR1260A,MIR127,MIR136,MIR2392,MIR3173,MIR337,MIR345,MIR4308,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4708,MIR4709,MIR493,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR665,MIR770,MIS18BP1,MLH3,MNAT1,MOAP1,MPP5,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NFKBIA,NGB,NID2,NIN,NKX2-1,NKX2-8,NOXRED1,NPAS3,NPC2,NRDE2,NRXN3,NUBPL,NUMB,OTUB2,OTX2,OTX2-AS1,PAPLN,PAPOLA,PAX9,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,POLE2,POMT2,PPM1A,PPP1R36,PPP2R3C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMC1,PSMC6,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RALGAPA1,RBM25,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA79,SNORD127,SNORD56B,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TOMM20L,TRAPPC6B,TRIM9,TRIP11,TRMT5,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR25,WDR89,YLPM1,YY1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 28753669 28754669 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 28767333 28768333 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 28795801 28800500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 28797790 28798553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 42881139 42901787 Gain and loss Pancreatic cancer SNP array 17952125 RIMKLA,ZMYND12 chr14 28828563 28828659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 4288340 4288459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 28842794 28842892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42884557 42884736 Gain and loss Pancreatic cancer SNP array 17952125 RIMKLA chr14 28952244 28952344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 28957683 28958683 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 28965868 28965954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42896635 42915015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYND12 chr1 42896635 42915015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYND12 chr14 29015741 29015863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 29015741 29015872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42902033 42910503 Gain and loss Pancreatic cancer SNP array 17952125 ZMYND12 chr14 29063054 29063086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29063788 29108846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 29064165 29064265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29074498 29074595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42909594 42911039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZMYND12 chr14 29115436 29466699 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C14orf23,FOXG1 chr14 29115436 29466699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf23,FOXG1 chr14 29115436 29466699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf23,FOXG1 chr14 29115437 29466650 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 C14orf23,FOXG1 chr14 29115437 29466650 Gain or loss Breast cancer - 20668451 C14orf23,FOXG1 chr14 29115437 29466650 Gain or loss Cancer - 20668451 C14orf23,FOXG1 chr14 29115437 29466650 Gain or loss Lung cancer - 20668451 C14orf23,FOXG1 chr14 29115437 29466650 Gain or loss Ovarian cancer - 20668451 C14orf23,FOXG1 chr14 29115437 29466650 Gain or loss Pancreas cancer - 20668451 C14orf23,FOXG1 chr14 29115437 29466650 Gain or loss Prostate cancer - 20668451 C14orf23,FOXG1 chr14 29116195 29466469 Gain and loss Pancreatic cancer SNP array 17952125 C14orf23,FOXG1 chr14 29120301 29828700 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf23,FOXG1 chr1 42912 44799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 29127712 29127798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29146549 29146649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29150330 29254453 Deletion Normal Affymetrix 6.0 microarrays 20967226 C14orf23,FOXG1 chr14 29177092 29177192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42920653 42940600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPCS,ZMYND12 chr1 42920653 42940600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPCS,ZMYND12 chr14 29236286 29238870 Gain Medulloblastoma Qrt-PCR 17522785 FOXG1 chr1 42924084 42924184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPCS chr1 42924544 42932980 Gain and loss Pancreatic cancer SNP array 17952125 PPCS chr14 29289250 29289350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29350874 29350975 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 29350874 29350975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42941826 42952016 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 29431133 29867536 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 42951895 42979753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 29558062 30223074 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR548AI,PRKD1 chr14 29587351 29587674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 29628356 29628453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 42963906 42963952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42971351 42978512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 42971351 42978512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 29717698 29717798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42972501 42980000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 29758953 29759053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29764926 29765026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 42980001 43773500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf210,C1orf50,CCDC23,CCDC30,CLDN19,EBNA1BP2,ERMAP,FAM183A,LEPRE1,LOC100129924,PPIH,SLC2A1,SLC2A1-AS1,TIE1,TMEM125,WDR65,YBX1,ZNF691 chr1 42981373 42987237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 29819732 29843769 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 29828701 33168300 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,COCH,DTD2,G2E3,GPR33,HEATR5A,HECTD1,LOC100506071,MIR548AI,MIR624,NUBPL,PRKD1,SCFD1,STRN3 chr1 42984633 43005313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr1 42984633 43005313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr14 29855040 29855115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29869974 30981496 Loss Normal 244K array 17666407 MIR548AI,PRKD1 chr14 29871364 40662388 Copy number Lung cancer paired-end sequencing 18438408 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,BAZ1A,BRMS1L,CFL2,CLEC14A,COCH,CTAGE5,DTD2,EAPP,EGLN3,FAM177A1,FBXO33,FOXA1,G2E3,GEMIN2,GPR33,HEATR5A,HECTD1,IGBP1P1,INSM2,KIAA0391,LINC00639,LOC100129794,LOC100288846,LOC100506071,MBIP,MIA2,MIPOL1,MIR4503,MIR548AI,MIR624,NFKBIA,NKX2-1,NKX2-8,NPAS3,NUBPL,PAX9,PNN,PPP2R3C,PRKD1,PSMA6,PTCSC3,RALGAPA1,SCFD1,SEC23A,SFTA3,SLC25A21,SNX6,SPTSSA,SRP54,SSTR1,STRN3,TRAPPC6B chr1 42988051 42988230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 29890122 29890222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29895767 29895867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 29911632 29911732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AI chr14 29975117 29975217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AI chr14 30032189 30032283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AI chr1 43005527 43013997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr1 43005527 43013997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr14 30056259 30056505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548AI,PRKD1 chr14 30098128 30158797 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548AI,PRKD1 chr14 30098128 30158797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548AI,PRKD1 chr14 30098128 30158797 Gain and loss Pancreatic cancer SNP array 17952125 MIR548AI,PRKD1 chr14 30098128 30158797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AI,PRKD1 chr14 30150258 30158797 Gain or loss Breast cancer - 20668451 MIR548AI,PRKD1 chr14 30150258 30158797 Gain or loss Cancer - 20668451 MIR548AI,PRKD1 chr14 30150258 30158797 Gain or loss Lung cancer - 20668451 MIR548AI,PRKD1 chr14 30150258 30158797 Gain or loss Ovarian cancer - 20668451 MIR548AI,PRKD1 chr14 30150258 30158797 Gain or loss Pancreas cancer - 20668451 MIR548AI,PRKD1 chr14 30150258 30158797 Gain or loss Prostate cancer - 20668451 MIR548AI,PRKD1 chr14 30161272 30279396 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548AI,PRKD1 chr14 30161272 30279396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548AI,PRKD1 chr14 30161272 30279396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AI,PRKD1 chr14 30161272 30282837 Gain and loss Pancreatic cancer SNP array 17952125 MIR548AI,PRKD1 chr14 30163118 30163198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AI,PRKD1 chr14 30209271 47124271 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,BAZ1A,BRMS1L,C14orf28,CFL2,CLEC14A,COCH,CTAGE5,DTD2,EAPP,EGLN3,FAM177A1,FAM179B,FANCM,FBXO33,FKBP3,FOXA1,FSCB,G2E3,GEMIN2,GPR33,HEATR5A,HECTD1,IGBP1P1,INSM2,KIAA0391,KLHL28,LINC00639,LOC100129794,LOC100288846,LOC100506071,LRFN5,MBIP,MIA2,MIPOL1,MIR4503,MIR624,MIS18BP1,NFKBIA,NKX2-1,NKX2-8,NPAS3,NUBPL,PAX9,PNN,PPP2R3C,PRKD1,PRPF39,PSMA6,PTCSC3,RALGAPA1,RPL10L,SCFD1,SEC23A,SFTA3,SLC25A21,SNORD127,SNX6,SPTSSA,SRP54,SSTR1,STRN3,TRAPPC6B chr14 30211278 30211378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKD1 chr14 30219580 30231506 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKD1 chr1 43022043 43022647 Gain and loss Pancreatic cancer SNP array 17952125 CCDC30 chr14 30231168 30294776 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRKD1 chr14 30267675 30267775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKD1 chr14 30271564 30297587 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRKD1 chr14 30289934 30622371 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PRKD1 chr14 30332736 30333065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKD1 chr14 30360384 30360819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKD1 chr14 30360392 30360800 Gain and loss Pancreatic cancer SNP array 17952125 PRKD1 chr14 30365927 30365986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKD1 chr14 30375700 30839868 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 PRKD1 chr14 30398572 30398672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 30403265 30622371 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr14 30407204 55290538 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABHD12B,AKAP6,AP4S1,ARF6,ARHGAP5,ARHGAP5-AS1,ATL1,ATP5S,BAZ1A,BMP4,BRMS1L,C14orf166,C14orf182,C14orf183,C14orf28,CDKL1,CDKN3,CFL2,CGRRF1,CLEC14A,CNIH,COCH,CTAGE5,DDHD1,DNAAF2,DTD2,EAPP,EGLN3,ERO1L,FAM177A1,FAM179B,FANCM,FBXO33,FERMT2,FKBP3,FOXA1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,G2E3,GEMIN2,GMFB,GNG2,GNPNAT1,GPR137C,GPR33,HEATR5A,HECTD1,IGBP1P1,INSM2,KIAA0391,KLHDC1,KLHDC2,KLHL28,L2HGDH,LINC00639,LINC00640,LINC00648,LOC100129794,LOC100288846,LOC100506071,LRFN5,LRR1,MAP4K5,MBIP,MDGA2,METTL21D,MGAT2,MIA2,MIPOL1,MIR4503,MIR548Y,MIR5580,MIR624,MIS18BP1,NEMF,NFKBIA,NID2,NIN,NKX2-1,NKX2-8,NPAS3,NUBPL,PAX9,PNN,POLE2,PPP2R3C,PRPF39,PSMA6,PSMC6,PTCSC3,PTGDR,PTGER2,PYGL,RALGAPA1,RPL10L,RPL36AL,RPS29,SAMD4A,SAV1,SCFD1,SEC23A,SFTA3,SLC25A21,SNORD127,SNX6,SOS2,SPTSSA,SRP54,SSTR1,STRN3,STYX,TMX1,TRAPPC6B,TRIM9,TXNDC16 chr14 30408093 31454851 LOH Normal High-resolution SNP genotyping 21211785 COCH,G2E3,LOC100506071,SCFD1,STRN3 chr14 30413499 30434010 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 30413516 30429573 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 30413516 30429573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30413516 30429573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30413516 30429573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43041557 43075603 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC30 chr14 30415989 30416084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 30432761 30565340 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 30432761 30565340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30434172 30565336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43045310 43055541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr1 43045310 43055541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr14 30494353 30514472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 30525697 30878740 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 NOT_FOUND chr14 30528696 30529405 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 30553603 30553699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43055363 43083247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr1 43055363 43083247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr14 30557481 30557755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30562756 30574026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 30564633 30631992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30564644 30631992 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 30564644 30631992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30564644 30631992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43060608 43093594 Gain and loss Pancreatic cancer SNP array 17952125 CCDC30 chr14 30639074 30746666 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 30639074 30746666 Gain or loss Cancer - 20668451 NOT_FOUND chr14 30639074 30746666 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 30639074 30746666 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 30639074 30746666 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 30639074 30746666 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 30639075 30675624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30639075 30746440 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 30639075 30746440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30639075 30746440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30659110 30659210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 30667888 30701839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 30681896 30682005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30681899 30682005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30689143 30795962 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 30716978 30717211 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr14 30783718 30783816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30783718 30783817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30783718 30783818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30789797 30789871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 30797565 30797666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30797566 30797666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30797567 30797666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 3080384 5405067 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 NOT_FOUND chr14 30832103 30927932 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30832103 30959490 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 30832103 30959490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30839868 33979828 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKAP6,AP4S1,ARHGAP5,ARHGAP5-AS1,COCH,DTD2,G2E3,GPR33,HEATR5A,HECTD1,LOC100506071,MIR624,NPAS3,NUBPL,SCFD1,STRN3 chr14 30845477 30845550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30845477 30845550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43084867 43090735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr1 43084867 43090735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC30 chr14 30883628 30883804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 30890770 30890870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 30984996 30996418 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 30984996 30996431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 30984996 30996431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 30984996 30996431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 31012747 31013071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 31021945 31022802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 31021945 31022901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 31093119 31093209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCFD1 chr14 31100342 31400150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COCH,LOC100506071,SCFD1,STRN3 chr14 31100342 31400150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COCH,LOC100506071,SCFD1,STRN3 chr14 31100355 31399259 Gain and loss Pancreatic cancer SNP array 17952125 COCH,LOC100506071,SCFD1,STRN3 chr14 31100397 31399259 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COCH,LOC100506071,SCFD1,STRN3 chr14 31106136 31106236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCFD1 chr14 31116478 32223220 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AP4S1,COCH,DTD2,GPR33,HEATR5A,HECTD1,LOC100506071,MIR624,NUBPL,SCFD1,STRN3 chr14 31141382 31141454 Gain and loss Pancreatic cancer SNP array 17952125 SCFD1 chr14 31141382 31141454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCFD1 chr14 31200996 31201100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCFD1 chr14 31201017 31201100 Gain and loss Pancreatic cancer SNP array 17952125 SCFD1 chr14 31201017 31201100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCFD1 chr14 31225649 31225755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 31225649 31225755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 31247715 31247814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43124855 43127025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPIH chr1 43124855 43127025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIH chr1 43126202 43126308 Gain and loss Pancreatic cancer SNP array 17952125 PPIH chr14 31265290 31439957 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COCH,LOC100506071,STRN3 chr14 31265290 32369233 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AP4S1,COCH,DTD2,GPR33,HEATR5A,HECTD1,LOC100506071,MIR624,NUBPL,STRN3 chr14 31269184 31269284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 31273919 31274635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 31291428 31291528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43129352 43130688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPIH chr1 43129352 43130688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIH chr1 43141490 43142170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIH chr14 31466403 31466503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STRN3 chr1 43157263 43157642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 YBX1 chr14 31595346 31595463 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HECTD1 chr14 31614935 31615105 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HECTD1 chr14 31614935 31615105 Gain and loss Pancreatic cancer SNP array 17952125 HECTD1 chr14 31614935 31615105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECTD1 chr14 31615939 31698685 Amplification or deletion Normal BAC aCGH 22315515 HECTD1 chr14 31615940 31694037 Gain and loss Pancreatic cancer SNP array 17952125 HECTD1 chr14 31616246 31698685 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HECTD1 chr14 31616246 31698685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HECTD1 chr14 31616246 31698685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECTD1 chr14 31627138 31627231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECTD1 chr1 4316333 4319734 Copy number Autism exome sequencing 22495311 NOT_FOUND chr1 43163632 43197434 Amplification Myoclonic Astatic Epilepsy MLPA 21555602 YBX1 chr1 43164115 43197126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YBX1 chr1 43164115 43197126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YBX1 chr14 31738985 31831551 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 HEATR5A chr14 31741002 31741107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 31741002 31741108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 31741002 31741108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 31742120 31742226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 31742120 31742226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 31742121 31742226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 31790088 31790183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEATR5A chr14 31800000 35600000 Loss Breast cancer aCGH 21045282 AKAP6,ARHGAP5,ARHGAP5-AS1,BAZ1A,CFL2,DTD2,EAPP,EGLN3,FAM177A1,GPR33,HEATR5A,IGBP1P1,KIAA0391,NPAS3,NUBPL,PPP2R3C,SNX6,SPTSSA,SRP54 chr14 31800000 36900000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 AKAP6,ARHGAP5,ARHGAP5-AS1,BAZ1A,BRMS1L,CFL2,DTD2,EAPP,EGLN3,FAM177A1,GPR33,HEATR5A,IGBP1P1,INSM2,KIAA0391,MBIP,NFKBIA,NPAS3,NUBPL,PPP2R3C,PSMA6,PTCSC3,RALGAPA1,SNX6,SPTSSA,SRP54 chr14 31810812 31811261 Gain and loss Pancreatic cancer SNP array 17952125 HEATR5A chr14 31868273 32372018 Gain or loss Breast cancer - 20668451 DTD2,GPR33,HEATR5A,NUBPL chr14 31868273 32372018 Gain or loss Cancer - 20668451 DTD2,GPR33,HEATR5A,NUBPL chr14 31868273 32372018 Gain or loss Lung cancer - 20668451 DTD2,GPR33,HEATR5A,NUBPL chr14 31868273 32372018 Gain or loss Ovarian cancer - 20668451 DTD2,GPR33,HEATR5A,NUBPL chr14 31868273 32372018 Gain or loss Pancreas cancer - 20668451 DTD2,GPR33,HEATR5A,NUBPL chr14 31868273 32372018 Gain or loss Prostate cancer - 20668451 DTD2,GPR33,HEATR5A,NUBPL chr14 31868274 32372018 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DTD2,GPR33,HEATR5A,NUBPL chr14 31868274 32372018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTD2,GPR33,HEATR5A,NUBPL chr14 31868274 32372018 Gain and loss Pancreatic cancer SNP array 17952125 DTD2,GPR33,HEATR5A,NUBPL chr14 31868274 32372018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTD2,GPR33,HEATR5A,NUBPL chr14 31895975 32247665 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 DTD2,GPR33,NUBPL chr14 31928231 32086193 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 GPR33,NUBPL chr14 31928231 32086193 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR33,NUBPL chr14 31928231 32086193 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR33,NUBPL chr14 31950997 32301338 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPR33,NUBPL chr14 31981298 31981594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 31981298 31981596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 31993611 31993850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 32021201 32025700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 32023769 32023834 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 32023834 32023899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 32023834 32023899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 32023931 32024001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 32023931 32024001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 32024003 32024071 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 32024003 32024071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 32030004 32030125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 32030004 32030125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43204213 43249014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf50,CLDN19,LEPRE1 chr14 32056278 32081275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUBPL chr14 32103028 32103128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUBPL chr1 43229696 43229802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEPRE1 chr1 43230941 44265747 LOH Normal High-resolution SNP genotyping 21211785 C1orf210,C1orf50,CCDC23,CDC20,EBNA1BP2,ELOVL1,ERMAP,FAM183A,HYI,KDM4A,KDM4A-AS1,LEPRE1,LOC100129924,MED8,MPL,PTPRF,SLC2A1,SLC2A1-AS1,ST3GAL3,SZT2,TIE1,TMEM125,WDR65,ZNF691 chr14 32350246 32350331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 32371600 33463751 Deletion Normal Arbitrated Peel-off 21527027 AKAP6,ARHGAP5,ARHGAP5-AS1,NPAS3 chr14 32371600 33463751 Deletion Normal GeneGISTIC 21527027 AKAP6,ARHGAP5,ARHGAP5-AS1,NPAS3 chr14 32371600 33463751 Deletion Normal Standard peel-off 21527027 AKAP6,ARHGAP5,ARHGAP5-AS1,NPAS3 chr1 43237701 43313600 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf50,CCDC23,ERMAP,LOC100129924,ZNF691 chr14 32455279 32462720 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 32459901 32463300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 32461533 32461728 Gain Normal 244K array 17666407 NOT_FOUND chr14 32461724 32462061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 32461948 32462048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 32472690 32473813 Gain Normal 244K array 17666407 NOT_FOUND chr14 32478200 33343133 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKAP6,ARHGAP5,ARHGAP5-AS1 chr14 32478200 33343133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKAP6,ARHGAP5,ARHGAP5-AS1 chr14 32478200 33343133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP6,ARHGAP5,ARHGAP5-AS1 chr14 32478274 33340702 Gain and loss Pancreatic cancer SNP array 17952125 AKAP6,ARHGAP5,ARHGAP5-AS1 chr14 32487227 32487327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 32505532 32505754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 32515204 33102034 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP6,ARHGAP5,ARHGAP5-AS1 chr14 32515204 33779055 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP6,ARHGAP5,ARHGAP5-AS1,NPAS3 chr14 32528802 32528952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 32577530 32577607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP5 chr14 32583140 32621485 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARHGAP5 chr14 32583140 32621485 Copy number gain Normal High-resolution SNP genotyping 21211785 ARHGAP5 chr14 32658262 33123807 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AKAP6 chr14 32669065 32669192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 32669129 32669229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43269843 43269911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 32699875 32699975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 32712593 32712673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 4327501 4552000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC284661 chr1 43282713 43291077 Gain and loss Pancreatic cancer SNP array 17952125 CCDC23,ERMAP chr14 32897384 32901713 Deletion Normal Standard GISTIC 21527027 AKAP6 chr14 32932320 32962713 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 AKAP6 chr14 32951111 32951211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP6 chr1 43298946 43307024 Gain and loss Pancreatic cancer SNP array 17952125 ERMAP chr14 33000190 45278733 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 AKAP6,BAZ1A,BRMS1L,CFL2,CLEC14A,CTAGE5,EAPP,EGLN3,FAM177A1,FBXO33,FOXA1,FSCB,GEMIN2,IGBP1P1,INSM2,KIAA0391,LINC00639,LOC100129794,LOC100288846,LRFN5,MBIP,MIA2,MIPOL1,MIR4503,NFKBIA,NKX2-1,NKX2-8,NPAS3,PAX9,PNN,PPP2R3C,PSMA6,PTCSC3,RALGAPA1,SEC23A,SFTA3,SLC25A21,SNX6,SPTSSA,SRP54,SSTR1,TRAPPC6B chr14 33011494 33012027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKAP6 chr14 33046738 33072996 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 AKAP6 chr1 43307119 43345642 Gain and loss Pancreatic cancer SNP array 17952125 ERMAP,ZNF691 chr14 33108356 33108656 Gain Osteosarcoma References 21215367 AKAP6 chr1 43310897 43311630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 33121500 33121544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP6 chr14 33132837 33132937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP6 chr14 33157821 33330386 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP6 chr14 33168301 34003200 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKAP6,NPAS3 chr14 33221140 33221240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP6 chr14 33300000 37800000 Amplification Lung cancer Array CGH 17925434 AKAP6,BAZ1A,BRMS1L,CFL2,EAPP,EGLN3,FAM177A1,IGBP1P1,INSM2,KIAA0391,LOC100129794,MBIP,MIPOL1,MIR4503,NFKBIA,NKX2-1,NKX2-8,NPAS3,PAX9,PPP2R3C,PSMA6,PTCSC3,RALGAPA1,SFTA3,SLC25A21,SNX6,SPTSSA,SRP54 chr14 33300000 43500000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AKAP6,BAZ1A,BRMS1L,CFL2,CLEC14A,CTAGE5,EAPP,EGLN3,FAM177A1,FBXO33,FOXA1,GEMIN2,IGBP1P1,INSM2,KIAA0391,LINC00639,LOC100129794,LOC100288846,LRFN5,MBIP,MIA2,MIPOL1,MIR4503,NFKBIA,NKX2-1,NKX2-8,NPAS3,PAX9,PNN,PPP2R3C,PSMA6,PTCSC3,RALGAPA1,SEC23A,SFTA3,SLC25A21,SNX6,SPTSSA,SRP54,SSTR1,TRAPPC6B chr14 33300000 50900000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AKAP6,ARF6,ATP5S,BAZ1A,BRMS1L,C14orf182,C14orf183,C14orf28,CDKL1,CFL2,CLEC14A,CTAGE5,DNAAF2,EAPP,EGLN3,FAM177A1,FAM179B,FANCM,FBXO33,FKBP3,FOXA1,FSCB,GEMIN2,IGBP1P1,INSM2,KIAA0391,KLHDC1,KLHDC2,KLHL28,L2HGDH,LINC00639,LINC00648,LOC100129794,LOC100288846,LRFN5,LRR1,MAP4K5,MBIP,MDGA2,METTL21D,MGAT2,MIA2,MIPOL1,MIR4503,MIR548Y,MIS18BP1,NEMF,NFKBIA,NKX2-1,NKX2-8,NPAS3,PAX9,PNN,POLE2,PPP2R3C,PRPF39,PSMA6,PTCSC3,RALGAPA1,RPL10L,RPL36AL,RPS29,SEC23A,SFTA3,SLC25A21,SNORD127,SNX6,SOS2,SPTSSA,SRP54,SSTR1,TRAPPC6B chr1 43331181 43331270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 43331181 43331284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 33359787 33360125 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 33392497 33978199 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NPAS3 chr14 33437105 33437218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS3 chr14 33463171 33490038 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NPAS3 chr14 33463172 33490035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 33463172 33490035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 33463174 33490037 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPAS3 chr14 33463174 33490037 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 33541994 33542047 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS3 chr14 33555002 33555102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 33583777 33584584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS3 chr14 33583803 33584597 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NPAS3 chr14 33641228 33641317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 33662520 33662620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 33674681 33674781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 33697734 33698734 Loss Osteosarcoma References 21215367 NPAS3 chr14 33699490 33700490 Loss Osteosarcoma References 21215367 NPAS3 chr14 33700245 33701245 Gain Osteosarcoma References 21215367 NPAS3 chr1 43376280 43376828 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 33777913 33811602 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NPAS3 chr14 33803455 33803510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS3 chr14 33803525 33804971 Loss Normal 244K array 17666407 NPAS3 chr1 43382616 43394654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC2A1 chr1 43382616 43394654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A1 chr14 33834132 33834210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr1 43391045 43424847 Deletion Epilepsy ref 20923578 SLC2A1,SLC2A1-AS1 chr14 33921371 34319066 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NPAS3 chr14 33921371 34319066 Copy number gain Normal High-resolution SNP genotyping 21211785 NPAS3 chr14 33932112 33932262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 33941915 33941993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 33942779 34940779 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 EGLN3,NPAS3,SPTSSA chr14 33943086 34319066 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NPAS3 chr14 33943086 34319066 Copy number gain Normal High-resolution SNP genotyping 21211785 NPAS3 chr14 33952152 34319066 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NPAS3 chr14 33952152 34319066 Copy number gain Normal High-resolution SNP genotyping 21211785 NPAS3 chr14 33971896 34001219 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPAS3 chr14 33971896 34001219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 33971896 34001219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 33971905 34001313 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NPAS3 chr14 33971905 34001313 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 33979828 34935468 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EGLN3,NPAS3,SPTSSA chr14 34000679 106368585 Deletion Normal Arbitrated Peel-off 21527027 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARF6,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BRMS1L,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKL1,CDKN3,CEP128,CFL2,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLEC14A,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CTAGE5,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DYNC1H1,EAPP,EFCAB11,EGLN3,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,INF2,INSM2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00639,LINC00640,LINC00642,LINC00643,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MED6,MEG3,MEG8,MEG9,METTL21D,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548Y,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NFKBIA,NGB,NID2,NIN,NKX2-1,NKX2-8,NOXRED1,NPAS3,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PAX9,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,POLE2,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMC1,PSMC6,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RALGAPA1,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD127,SNORD56B,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 34003201 39215000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BAZ1A,BRMS1L,CFL2,CLEC14A,EAPP,EGLN3,FAM177A1,FOXA1,IGBP1P1,INSM2,KIAA0391,LOC100129794,MBIP,MIPOL1,MIR4503,NFKBIA,NKX2-1,NKX2-8,NPAS3,PAX9,PPP2R3C,PSMA6,PTCSC3,RALGAPA1,SFTA3,SLC25A21,SNX6,SPTSSA,SRP54,SSTR1 chr1 43402440 43410518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC2A1 chr1 43402440 43410518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A1 chr14 34024936 34025388 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 34024936 34025400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPAS3 chr14 34049625 34049999 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NPAS3 chr14 34050618 34051142 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NPAS3 chr14 34054887 34078668 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 34054887 34078694 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPAS3 chr14 34054887 34078694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr1 43405500 43408765 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A1 chr14 34055447 34055597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 34079384 34118435 Loss Normal Birdsuite, version 1.5.2 22087296 NPAS3 chr14 34085671 34085834 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 34085671 34085834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 34095183 34095346 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 34095183 34095346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 34100051 34169140 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPAS3 chr14 34100051 34169140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 34100051 34169140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 34100369 34169093 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr1 43410613 43449136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC2A1,SLC2A1-AS1 chr1 43410613 43449136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A1,SLC2A1-AS1 chr14 34115512 34115612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 34133012 34180263 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NPAS3 chr14 34133012 34225733 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NPAS3 chr14 34140125 34140276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr1 43416655 43420332 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A1 chr14 34170953 34199297 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NPAS3 chr14 34184838 34192010 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS3 chr14 34197792 34206425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS3 chr14 34199262 34199356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS3 chr14 34214849 34214949 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 34214849 34214949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 34233127 34233515 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 34249354 34253657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 34249354 34253657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS3 chr14 34249401 34253649 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPAS3 chr14 34249401 34253649 Gain and loss Pancreatic cancer SNP array 17952125 NPAS3 chr14 34287098 34319126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 34291689 34414604 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EGLN3 chr14 34291689 34414604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGLN3 chr14 34291689 34414604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGLN3 chr14 34291694 34414604 Gain and loss Pancreatic cancer SNP array 17952125 EGLN3 chr14 34317351 34350816 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 43434675 43434794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A1-AS1 chr14 34349601 34349701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43435757 43457871 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A1-AS1 chr14 34375042 34375372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 34384257 34384318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34404822 74551240 Loss Prostate cancer Array CGH 18632612 ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ADAM20,ADAM20P1,ADAM21,ADAM21P1,AKAP5,ALDH6A1,AP5M1,ARF6,ARG2,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BAZ1A,BMP4,BRMS1L,C14orf101,C14orf105,C14orf162,C14orf166,C14orf169,C14orf182,C14orf183,C14orf28,C14orf37,C14orf39,CCDC175,CCDC176,CDKL1,CDKN3,CFL2,CGRRF1,CHURC1,CHURC1-FNTB,CLEC14A,CNIH,COQ6,COX16,CTAGE5,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DHRS7,DLGAP5,DNAAF2,DNAL1,DPF3,EAPP,EGLN3,EIF2S1,ELMSAN1,ENTPD5,ERH,ERO1L,ESR2,EXD2,EXOC5,FAM161B,FAM177A1,FAM179B,FAM71D,FANCM,FBXO33,FBXO34,FERMT2,FKBP3,FLJ22447,FLJ31306,FNTB,FOXA1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,GALNTL1,GCH1,GEMIN2,GMFB,GNG2,GNPNAT1,GPHB5,GPHN,GPR135,GPR137C,GPX2,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IGBP1P1,INSM2,JKAMP,KCNH5,KIAA0247,KIAA0391,KIAA0586,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LINC00238,LINC00520,LINC00639,LINC00640,LINC00643,LINC00648,LOC100129794,LOC100288846,LOC100289511,LOC100506321,LOC145474,LRFN5,LRR1,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MBIP,MDGA2,MED6,METTL21D,MGAT2,MIA2,MIPOL1,MIR4308,MIR4503,MIR4505,MIR4706,MIR4708,MIR548Y,MIR5580,MIS18BP1,MNAT1,MPP5,MTHFD1,NAA30,NEMF,NFKBIA,NID2,NIN,NKX2-1,NKX2-8,NUMB,OTX2,OTX2-AS1,PAPLN,PAX9,PCNX,PCNXL4,PELI2,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,POLE2,PPM1A,PPP1R36,PPP2R3C,PPP2R5E,PRKCH,PRPF39,PSEN1,PSMA3,PSMA6,PSMC6,PTCSC3,PTGDR,PTGER2,PTGR2,PYGL,RAB15,RAD51B,RALGAPA1,RBM25,RDH11,RDH12,RGS6,RHOJ,RPL10L,RPL13AP3,RPL36AL,RPS29,RTN1,SAMD4A,SAV1,SEC23A,SFTA3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC25A21,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SMOC1,SNAPC1,SNORD127,SNORD56B,SNX6,SOCS4,SOS2,SPTB,SPTSSA,SRP54,SRSF5,SSTR1,STYX,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEX21P,TIMM9,TMEM229B,TMEM30B,TMX1,TOMM20L,TRAPPC6B,TRIM9,TRMT5,TTC9,TXNDC16,VTI1B,WDHD1,WDR89,ZBTB1,ZBTB25,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 34440339 35305787 LOH Normal High-resolution SNP genotyping 21211785 BAZ1A,CFL2,EAPP,SNX6,SPTSSA chr14 34442023 34442103 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 43444592 43444691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC2A1-AS1 chr14 34454298 34454398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 34471154 34471474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 34472401 34472500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34472402 34472500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34472403 34472500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34478474 34479292 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34493152 34493261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 34493210 34493338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 34496513 34657493 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 34505183 34505283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 34521982 34568515 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 34521982 34568517 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34521988 34568522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34521988 34568522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34524805 34525805 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 34525615 34526615 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 34528126 34528426 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 34547408 34592738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 34557491 34580557 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 34561015 34657493 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 34577452 34579258 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 34583864 34622340 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 34583864 34622340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34583864 34622340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34585320 34622334 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34606972 37870442 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BAZ1A,BRMS1L,CFL2,EAPP,FAM177A1,IGBP1P1,INSM2,KIAA0391,LOC100129794,MBIP,MIPOL1,MIR4503,NFKBIA,NKX2-1,NKX2-8,PAX9,PPP2R3C,PSMA6,PTCSC3,RALGAPA1,SFTA3,SLC25A21,SNX6,SPTSSA,SRP54 chr1 43460740 43460834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 34624432 34661270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34624432 34661270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34624435 34661270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34624455 34661388 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 34661506 34856424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 34661506 34856424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34661506 34856424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34661520 34816571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 43466649 43468130 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 34668778 34695112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 34670307 34688427 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr14 34675506 34684479 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 34675506 34684479 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr14 34675767 34677673 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr14 34675767 34683370 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr14 34683065 34683437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34694103 51271071 Substitutions and indels small cell lung cancer array-CGH 20016488 ARF6,ATL1,ATP5S,BAZ1A,BRMS1L,C14orf182,C14orf183,C14orf28,CDKL1,CFL2,CLEC14A,CTAGE5,DNAAF2,EAPP,FAM177A1,FAM179B,FANCM,FBXO33,FKBP3,FOXA1,FSCB,GEMIN2,IGBP1P1,INSM2,KIAA0391,KLHDC1,KLHDC2,KLHL28,L2HGDH,LINC00639,LINC00648,LOC100129794,LOC100288846,LRFN5,LRR1,MAP4K5,MBIP,MDGA2,METTL21D,MGAT2,MIA2,MIPOL1,MIR4503,MIR548Y,MIS18BP1,NEMF,NFKBIA,NIN,NKX2-1,NKX2-8,PAX9,PNN,POLE2,PPP2R3C,PRPF39,PSMA6,PTCSC3,RALGAPA1,RPL10L,RPL36AL,RPS29,SAV1,SEC23A,SFTA3,SLC25A21,SNORD127,SNX6,SOS2,SPTSSA,SRP54,SSTR1,TRAPPC6B chr14 34706120 36642969 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BAZ1A,BRMS1L,CFL2,EAPP,FAM177A1,IGBP1P1,INSM2,KIAA0391,NFKBIA,PPP2R3C,PSMA6,PTCSC3,RALGAPA1,SNX6,SPTSSA,SRP54 chr14 34719258 35594392 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BAZ1A,CFL2,EAPP,FAM177A1,IGBP1P1,KIAA0391,PPP2R3C,SNX6,SPTSSA,SRP54 chr1 43472581 43492613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43472613 43487536 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34727315 34727417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34772044 34772629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 34831314 34856431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 34831325 34856424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34831325 34856424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34831325 34856424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34870001 34944500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPTSSA chr14 34927213 34927900 Gain and loss Pancreatic cancer SNP array 17952125 SPTSSA chr14 34935468 35809196 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BAZ1A,CFL2,EAPP,FAM177A1,IGBP1P1,KIAA0391,PPP2R3C,PSMA6,SNX6,SRP54 chr1 43493721 43497967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34940466 34943711 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 34940466 34943711 Gain or loss Cancer - 20668451 NOT_FOUND chr14 34940466 34943711 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 34940466 34943711 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 34940466 34943711 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 34940466 34943711 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 34940466 34943711 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 34940473 34943703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34940475 34943703 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 34940475 34943703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34940475 34943703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 34968904 34969576 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 34972306 34972402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43498166 43502792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 35006537 35657331 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BAZ1A,CFL2,EAPP,FAM177A1,IGBP1P1,KIAA0391,PPP2R3C,SNX6,SRP54 chr1 43502438 43502523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 35050815 35051932 Gain and loss Pancreatic cancer SNP array 17952125 SNX6 chr14 35050866 35052055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX6 chr14 35072999 35076011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX6 chr14 35072999 35076011 Gain and loss Pancreatic cancer SNP array 17952125 SNX6 chr14 35073124 35076011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX6 chr14 35073124 35076011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX6 chr14 35073501 35075000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNX6 chr14 35077310 35348183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BAZ1A,CFL2,SNX6 chr14 35077310 35348183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAZ1A,CFL2,SNX6 chr14 35077310 35348183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAZ1A,CFL2,SNX6 chr14 35077311 35211880 Gain and loss Pancreatic cancer SNP array 17952125 CFL2,SNX6 chr1 43508994 43512259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43508994 43512259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43518682 43524576 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 43520149 43523837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43520149 43523837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 35215186 35299851 Gain and loss Pancreatic cancer SNP array 17952125 BAZ1A chr14 35226404 35238933 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BAZ1A chr1 43524728 43547555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 35295285 35295417 Gain and loss Pancreatic cancer SNP array 17952125 BAZ1A chr14 35295285 35295417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAZ1A chr14 35325817 35325919 Gain and loss Pancreatic cancer SNP array 17952125 BAZ1A chr14 35325817 35325919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAZ1A chr14 35365348 35410919 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IGBP1P1 chr14 35365348 35410919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGBP1P1 chr14 35365348 35410919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGBP1P1 chr14 35365368 35409624 Gain and loss Pancreatic cancer SNP array 17952125 IGBP1P1 chr14 35380230 36252346 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 FAM177A1,IGBP1P1,INSM2,KIAA0391,NFKBIA,PPP2R3C,PSMA6,RALGAPA1,SRP54 chr1 43539250 43561366 Copy number Lung cancer - 20668451 NOT_FOUND chr1 43539250 43561366 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 43539250 43561366 Gain or loss Cancer - 20668451 NOT_FOUND chr1 43539250 43561366 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 43539250 43561366 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 43539250 43561366 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 43539250 43561366 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 43539251 43561366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43539251 43561366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 35467000 36690000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 BRMS1L,FAM177A1,INSM2,KIAA0391,NFKBIA,PPP2R3C,PSMA6,PTCSC3,RALGAPA1,SRP54 chr14 35469690 35504640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRP54 chr14 35486099 35520467 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM177A1,SRP54 chr14 35497173 35497273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRP54 chr14 35519051 35522716 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM177A1 chr1 43555521 43564253 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 35600000 36900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BRMS1L,INSM2,KIAA0391,MBIP,NFKBIA,PSMA6,PTCSC3,RALGAPA1 chr14 35600000 36900000 Gain Lung cancer Array CGH 17925434 BRMS1L,INSM2,KIAA0391,MBIP,NFKBIA,PSMA6,PTCSC3,RALGAPA1 chr14 35600000 40600000 Deletion abnormal development HR-CGH, Array-CGH 18461090 BRMS1L,CLEC14A,CTAGE5,FBXO33,FOXA1,GEMIN2,INSM2,KIAA0391,LINC00639,LOC100129794,LOC100288846,MBIP,MIA2,MIPOL1,MIR4503,NFKBIA,NKX2-1,NKX2-8,PAX9,PNN,PSMA6,PTCSC3,RALGAPA1,SEC23A,SFTA3,SLC25A21,SSTR1,TRAPPC6B chr14 35600000 52300000 Loss Metanephric adenoma Oligo aCGH 20802469 ABHD12B,ARF6,ATL1,ATP5S,BRMS1L,C14orf182,C14orf183,C14orf28,CDKL1,CLEC14A,CTAGE5,DNAAF2,FAM179B,FANCM,FBXO33,FKBP3,FOXA1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,GEMIN2,INSM2,KIAA0391,KLHDC1,KLHDC2,KLHL28,L2HGDH,LINC00639,LINC00640,LINC00648,LOC100129794,LOC100288846,LRFN5,LRR1,MAP4K5,MBIP,MDGA2,METTL21D,MGAT2,MIA2,MIPOL1,MIR4503,MIR548Y,MIS18BP1,NEMF,NFKBIA,NIN,NKX2-1,NKX2-8,PAX9,PNN,POLE2,PRPF39,PSMA6,PTCSC3,PYGL,RALGAPA1,RPL10L,RPL36AL,RPS29,SAV1,SEC23A,SFTA3,SLC25A21,SNORD127,SOS2,SSTR1,TMX1,TRAPPC6B,TRIM9 chr14 35610000 36090000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 INSM2,KIAA0391,NFKBIA,PSMA6,RALGAPA1 chr1 43564555 43585917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 35654550 35660898 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KIAA0391 chr14 35708407 36097605 Amplification Cancer Affymetrix 250K Sty array 20164920 INSM2,KIAA0391,NFKBIA,PSMA6,RALGAPA1 chr14 35735437 35735525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0391 chr14 35741777 35744784 Gain Normal Birdsuite, version 1.5.2 22087296 KIAA0391 chr1 43576062 43592722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43576062 43592722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 35770574 35770729 Gain and loss Pancreatic cancer SNP array 17952125 PSMA6 chr14 35770574 35770729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMA6 chr14 35782227 36210255 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 INSM2,NFKBIA,PSMA6,RALGAPA1 chr14 35809196 36164148 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 INSM2,NFKBIA,RALGAPA1 chr14 35826802 35843680 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 35835782 35835865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 35837520 35859596 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 35837520 35859596 Gain or loss Cancer - 20668451 NOT_FOUND chr14 35837520 35859596 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 35837520 35859596 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 35837520 35859596 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 35837520 35859596 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 35837522 35859596 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 35837522 35859596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 35837522 35859596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 35837522 35859596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 35850494 35875372 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NFKBIA chr1 43585920 43589011 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 35910121 35911325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 35910121 35911325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 35910121 35911325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 35910121 35911325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 35944175 35944231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 35949160 35949260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43597213 43601461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43597213 43601461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 36008964 36009064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGAPA1 chr1 43601660 43606286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43601660 43606286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 36052001 36064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RALGAPA1 chr14 36055357 36059115 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36055357 36059167 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA1 chr14 36055357 36059167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36055357 36059167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36055480 36057244 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RALGAPA1 chr14 36060589 36060831 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA1 chr14 36060589 36060831 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36117380 36122409 Gain Normal 244K array 17666407 RALGAPA1 chr14 36118501 36123500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RALGAPA1 chr14 36118968 36121537 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA1 chr14 36118968 36121537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36118968 36121537 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36118968 36121537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36132773 36133103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36132778 36133103 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36132864 36133103 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36149337 36149645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA1 chr14 36158222 36161634 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36164148 39304108 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BRMS1L,CLEC14A,FOXA1,LINC00639,LOC100129794,MBIP,MIPOL1,MIR4503,NKX2-1,NKX2-8,PAX9,PTCSC3,RALGAPA1,SFTA3,SLC25A21,SSTR1 chr14 36166475 36172325 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36171210 36172325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA1 chr14 36186046 36188628 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA1 chr14 36186046 36188628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36186046 36188628 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36186046 36188628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36193001 36202500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RALGAPA1 chr14 36194888 36196132 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA1 chr14 36194888 36196134 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36196533 36216758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36196533 36216758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA1 chr14 36200378 36208405 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RALGAPA1 chr14 36200857 36215837 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA1 chr14 36200877 36216758 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA1 chr14 36215575 36215748 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RALGAPA1 chr14 36218830 36711306 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRMS1L,PTCSC3,RALGAPA1 chr14 36218830 36711306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRMS1L,PTCSC3,RALGAPA1 chr14 36218830 36711306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRMS1L,PTCSC3,RALGAPA1 chr1 43621891 43621991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM183A chr14 36219614 36711306 Gain and loss Pancreatic cancer SNP array 17952125 BRMS1L,PTCSC3,RALGAPA1 chr1 43622176 43628070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 43622176 43628070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 36241632 36642969 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BRMS1L,PTCSC3,RALGAPA1 chr14 36252347 101304688 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AK7,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARF6,ARG2,ARID4A,ASB2,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRMS1L,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf182,C14orf183,C14orf28,C14orf37,C14orf39,C14orf64,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDKL1,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CLEC14A,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CTAGE5,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,EFCAB11,EIF2B2,EIF2S1,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC5,FAM161B,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00341,LINC00520,LINC00521,LINC00523,LINC00617,LINC00639,LINC00640,LINC00642,LINC00643,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MBIP,MDGA2,MED6,MEG3,METTL21D,MGAT2,MIA2,MIPOL1,MIR1260A,MIR2392,MIR3173,MIR345,MIR4308,MIR4503,MIR4505,MIR4706,MIR4708,MIR4709,MIR548Y,MIR5580,MIR5698,MIS18BP1,MLH3,MNAT1,MOAP1,MPP5,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NGB,NID2,NIN,NKX2-1,NKX2-8,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,OTUB2,OTX2,OTX2-AS1,PAPLN,PAPOLA,PAX9,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,POLE2,POMT2,PPM1A,PPP1R36,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PRPF39,PSEN1,PSMA3,PSMC1,PSMC6,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RALGAPA1,RBM25,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA79,SNORD127,SNORD56B,SNW1,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SRSF5,SSTR1,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TOMM20L,TRAPPC6B,TRIM9,TRIP11,TRMT5,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR25,WDR89,YLPM1,YY1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr1 43628140 43690891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EBNA1BP2,WDR65 chr1 43628140 43690891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EBNA1BP2,WDR65 chr1 43630043 43630377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EBNA1BP2 chr14 36349835 36349835 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 36355917 36380258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 43637337 43637437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EBNA1BP2 chr1 43645479 43645564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR65 chr14 36526393 36526481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 36536645 36536741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 36600000 37800000 Copy number Lung cancer correlation matrix diagonal segmentation method 20031968 LOC100129794,MBIP,MIPOL1,MIR4503,NKX2-1,NKX2-8,PAX9,PTCSC3,SFTA3,SLC25A21 chr14 36618137 36642969 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTCSC3 chr14 36632961 36633961 Gain Osteosarcoma References 21215367 PTCSC3 chr1 43665640 43758425 Gain and loss Pancreatic cancer SNP array 17952125 C1orf210,TMEM125,WDR65 chr14 36674561 36674729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 36674754 36674879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 36679515 36680515 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 36701350 36840969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MBIP chr14 36701359 36840978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MBIP chr14 36721446 36722446 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 36726195 36726267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 36726195 36726267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 36733546 36733646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 36736907 37090214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MBIP,NKX2-1,NKX2-8,SFTA3 chr14 36736907 37090214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBIP,NKX2-1,NKX2-8,SFTA3 chr14 36736907 37090214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBIP,NKX2-1,NKX2-8,SFTA3 chr14 36752027 36753027 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 36752338 36752438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 36786845 37085927 Gain and loss Pancreatic cancer SNP array 17952125 MBIP,NKX2-1,NKX2-8,SFTA3 chr14 36806456 37722998 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 LOC100129794,MIPOL1,MIR4503,NKX2-1,NKX2-8,PAX9,SFTA3,SLC25A21 chr1 43683345 43683445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR65 chr14 36838520 37775481 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100129794,MIPOL1,MIR4503,NKX2-1,NKX2-8,PAX9,SFTA3,SLC25A21 chr14 36868986 36869076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 36887004 37024143 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NKX2-1,SFTA3 chr1 43689412 43692505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR65 chr14 36900000 41000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CLEC14A,CTAGE5,FBXO33,FOXA1,GEMIN2,LINC00639,LOC100129794,LOC100288846,MIA2,MIPOL1,MIR4503,NKX2-1,NKX2-8,PAX9,PNN,SEC23A,SFTA3,SLC25A21,SSTR1,TRAPPC6B chr14 36900000 41000000 Deletion Intellectual disability - 22045946 CLEC14A,CTAGE5,FBXO33,FOXA1,GEMIN2,LINC00639,LOC100129794,LOC100288846,MIA2,MIPOL1,MIR4503,NKX2-1,NKX2-8,PAX9,PNN,SEC23A,SFTA3,SLC25A21,SSTR1,TRAPPC6B chr14 36900000 41000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CLEC14A,CTAGE5,FBXO33,FOXA1,GEMIN2,LINC00639,LOC100129794,LOC100288846,MIA2,MIPOL1,MIR4503,NKX2-1,NKX2-8,PAX9,PNN,SEC23A,SFTA3,SLC25A21,SSTR1,TRAPPC6B chr14 36900000 48300000 Amplification Esophageal squamous carcinoma CGH 21637470 C14orf28,CLEC14A,CTAGE5,FAM179B,FANCM,FBXO33,FKBP3,FOXA1,FSCB,GEMIN2,KLHL28,LINC00639,LINC00648,LOC100129794,LOC100288846,LRFN5,MDGA2,MIA2,MIPOL1,MIR4503,MIR548Y,MIS18BP1,NKX2-1,NKX2-8,PAX9,PNN,PRPF39,RPL10L,SEC23A,SFTA3,SLC25A21,SNORD127,SSTR1,TRAPPC6B chr14 36900000 48300000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 C14orf28,CLEC14A,CTAGE5,FAM179B,FANCM,FBXO33,FKBP3,FOXA1,FSCB,GEMIN2,KLHL28,LINC00639,LINC00648,LOC100129794,LOC100288846,LRFN5,MDGA2,MIA2,MIPOL1,MIR4503,MIR548Y,MIS18BP1,NKX2-1,NKX2-8,PAX9,PNN,PRPF39,RPL10L,SEC23A,SFTA3,SLC25A21,SNORD127,SSTR1,TRAPPC6B chr14 36900000 48300000 Loss Cancer array-based techniques 21183584 C14orf28,CLEC14A,CTAGE5,FAM179B,FANCM,FBXO33,FKBP3,FOXA1,FSCB,GEMIN2,KLHL28,LINC00639,LINC00648,LOC100129794,LOC100288846,LRFN5,MDGA2,MIA2,MIPOL1,MIR4503,MIR548Y,MIS18BP1,NKX2-1,NKX2-8,PAX9,PNN,PRPF39,RPL10L,SEC23A,SFTA3,SLC25A21,SNORD127,SSTR1,TRAPPC6B chr14 36973425 36973529 Gain and loss Pancreatic cancer SNP array 17952125 SFTA3 chr14 36973425 36973529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFTA3 chr14 36986327 38605977 Insert Prostate cancer array-based comparativegenomic hybridization 21147910 FOXA1,LOC100129794,MIPOL1,MIR4503,NKX2-1,NKX2-8,PAX9,SLC25A21 chr14 37048793 37048888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 37104288 37253681 Insert Cancer ultra-high resolution array CGH 21272361 PAX9,SLC25A21 chr14 37128947 37134240 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAX9 chr14 37128947 37134240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAX9 chr14 37128947 37134240 Gain and loss Pancreatic cancer SNP array 17952125 PAX9 chr14 37128947 37134240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAX9 chr14 37130501 37132000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PAX9 chr14 37147790 37149175 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SLC25A21 chr14 37150207 37507549 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4503,SLC25A21 chr14 37150207 37507549 Gain and loss Pancreatic cancer SNP array 17952125 MIR4503,SLC25A21 chr14 37152561 37152661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A21 chr14 37202898 37207561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC25A21 chr14 37203305 37207532 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SLC25A21 chr14 37231455 37231555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A21 chr14 37251834 37251922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A21 chr14 37252032 37775481 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100129794,MIPOL1,MIR4503,SLC25A21 chr14 37259381 37259517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A21 chr14 37259389 37259517 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A21 chr14 37259408 37259517 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A21 chr14 37307697 37307797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A21 chr14 37308839 37308939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A21 chr14 37314987 37315202 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC25A21 chr14 37326153 37381304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC25A21 chr14 37326153 37381304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A21 chr14 37326153 37381304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A21 chr14 37326964 37327019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A21 chr14 37334223 37381641 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A21 chr14 37366754 37366857 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A21 chr14 37366754 37366859 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A21 chr14 37366754 37366860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A21 chr14 37465485 37465534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A21 chr14 37483431 37483531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A21 chr1 43769134 43861930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC20,ELOVL1,MED8,MPL,SZT2,TIE1 chr1 43769134 43861930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC20,ELOVL1,MED8,MPL,SZT2,TIE1 chr14 37702954 37702986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIPOL1 chr14 37713247 37713563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIPOL1 chr1 43773501 43860500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC20,ELOVL1,MED8,MPL,SZT2,TIE1 chr14 37746954 37752019 Gain or loss Breast cancer - 20668451 MIPOL1 chr14 37746954 37752019 Gain or loss Cancer - 20668451 MIPOL1 chr14 37746954 37752019 Gain or loss Lung cancer - 20668451 MIPOL1 chr14 37746954 37752019 Gain or loss Ovarian cancer - 20668451 MIPOL1 chr14 37746954 37752019 Gain or loss Pancreas cancer - 20668451 MIPOL1 chr14 37746954 37752019 Gain or loss Prostate cancer - 20668451 MIPOL1 chr14 37746955 37752019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIPOL1 chr14 37746955 37752019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIPOL1 chr14 37746955 37752019 Gain and loss Pancreatic cancer SNP array 17952125 MIPOL1 chr14 37746955 37752019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIPOL1 chr14 37747001 37749500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIPOL1 chr14 37755911 37788778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIPOL1 chr14 37793059 37795325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIPOL1 chr14 37793059 37795325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIPOL1 chr14 37793059 37795325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIPOL1 chr14 37793506 37794978 Gain and loss Pancreatic cancer SNP array 17952125 MIPOL1 chr14 37793569 37794569 Loss Osteosarcoma References 21215367 MIPOL1 chr14 37796212 37797212 Gain Osteosarcoma References 21215367 MIPOL1 chr14 37800000 43500000 Copy number Thyroid cancer Real-Time PCR 19470727 CLEC14A,CTAGE5,FBXO33,FOXA1,GEMIN2,LINC00639,LOC100288846,LRFN5,MIA2,MIPOL1,PNN,SEC23A,SSTR1,TRAPPC6B chr14 37800000 50900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ARF6,ATP5S,C14orf182,C14orf183,C14orf28,CDKL1,CLEC14A,CTAGE5,DNAAF2,FAM179B,FANCM,FBXO33,FKBP3,FOXA1,FSCB,GEMIN2,KLHDC1,KLHDC2,KLHL28,L2HGDH,LINC00639,LINC00648,LOC100288846,LRFN5,LRR1,MAP4K5,MDGA2,METTL21D,MGAT2,MIA2,MIPOL1,MIR548Y,MIS18BP1,NEMF,PNN,POLE2,PRPF39,RPL10L,RPL36AL,RPS29,SEC23A,SNORD127,SOS2,SSTR1,TRAPPC6B chr14 37800000 70200000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD12B,ACTN1,ACTR10,AKAP5,AP5M1,ARF6,ARG2,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BMP4,C14orf101,C14orf105,C14orf162,C14orf166,C14orf182,C14orf183,C14orf28,C14orf37,C14orf39,CCDC175,CDKL1,CDKN3,CGRRF1,CHURC1,CHURC1-FNTB,CLEC14A,CNIH,CTAGE5,DAAM1,DACT1,DCAF5,DDHD1,DHRS7,DLGAP5,DNAAF2,EIF2S1,ERH,ERO1L,ESR2,EXD2,EXOC5,FAM179B,FAM71D,FANCM,FBXO33,FBXO34,FERMT2,FKBP3,FLJ22447,FLJ31306,FNTB,FOXA1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,GALNTL1,GCH1,GEMIN2,GMFB,GNG2,GNPNAT1,GPHB5,GPHN,GPR135,GPR137C,GPX2,HIF1A,HIF1A-AS2,HSPA2,JKAMP,KCNH5,KIAA0247,KIAA0586,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LINC00238,LINC00520,LINC00639,LINC00640,LINC00643,LINC00648,LOC100288846,LOC100506321,LRFN5,LRR1,MAP4K5,MAPK1IP1L,MAX,MDGA2,METTL21D,MGAT2,MIA2,MIPOL1,MIR4308,MIR4706,MIR4708,MIR548Y,MIR5580,MIS18BP1,MNAT1,MPP5,MTHFD1,NAA30,NEMF,NID2,NIN,OTX2,OTX2-AS1,PCNXL4,PELI2,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNN,POLE2,PPM1A,PPP1R36,PPP2R5E,PRKCH,PRPF39,PSMA3,PSMC6,PTGDR,PTGER2,PYGL,RAB15,RAD51B,RDH11,RDH12,RHOJ,RPL10L,RPL13AP3,RPL36AL,RPS29,RTN1,SAMD4A,SAV1,SEC23A,SGPP1,SIX1,SIX4,SIX6,SLC35F4,SLC38A6,SLC39A9,SNAPC1,SNORD127,SOCS4,SOS2,SPTB,SSTR1,STYX,SYNE2,SYT16,TBPL2,TEX21P,TIMM9,TMEM229B,TMEM30B,TMX1,TOMM20L,TRAPPC6B,TRIM9,TRMT5,TXNDC16,VTI1B,WDHD1,WDR89,ZBTB1,ZBTB25,ZFP36L1,ZFYVE26 chr1 43784931 43840231 Gain and loss Pancreatic cancer SNP array 17952125 CDC20,ELOVL1,MPL,TIE1 chr14 37877688 37895994 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIPOL1 chr14 37895082 38291575 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FOXA1,MIPOL1 chr14 37895082 38700264 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FOXA1,MIPOL1,SSTR1 chr14 37999805 38010259 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIPOL1 chr14 38023294 38023394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38064977 39340888 LOH Normal High-resolution SNP genotyping 21211785 CLEC14A,LINC00639,SSTR1 chr14 38073745 38073832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38074270 38074778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 38074320 38074525 Loss Normal 244K array 17666407 NOT_FOUND chr14 38140000 41330000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 CLEC14A,CTAGE5,FBXO33,GEMIN2,LINC00639,LOC100288846,MIA2,PNN,SEC23A,SSTR1,TRAPPC6B chr14 38180299 38387234 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr14 38205325 38241421 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 43825983 43826083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC20 chr14 38281395 38281479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38293254 38293354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43830144 43830183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELOVL1 chr1 43830242 43830291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELOVL1 chr14 38317277 38317377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38359442 38359626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38359641 38359795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38376001 38377500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 38405119 40169781 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLEC14A,CTAGE5,FBXO33,GEMIN2,LINC00639,LOC100288846,MIA2,PNN,SEC23A,SSTR1,TRAPPC6B chr1 43842311 44065923 Gain and loss Pancreatic cancer SNP array 17952125 HYI,MED8,PTPRF,SZT2 chr1 43843735 43843824 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 43851231 43851315 Gain and loss Pancreatic cancer SNP array 17952125 MED8 chr14 38520755 38520855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38526231 38526338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38526236 38526336 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38526243 38526337 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38570874 38642188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38570874 38642188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38570874 38642190 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 38570874 38642190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38573311 39254727 LOH Normal High-resolution SNP genotyping 21211785 CLEC14A,LINC00639,SSTR1 chr14 38585823 38760942 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.15 20877625 CLEC14A,SSTR1 chr14 38593309 38593397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38626940 38627296 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NOT_FOUND chr14 38653178 38675793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38653239 38675926 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 38653239 38675926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38653239 38675926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38686770 38709385 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 38686770 38709385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38686770 38709385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38686770 38709487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38701568 38701668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38701821 38703072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 38714138 38722173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38714138 38722173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38714151 38721178 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 38714151 38721178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38726348 38771271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 38750747 38751210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38754044 38755290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38754044 38755290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38759886 38773059 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr14 38772871 38792592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 38772871 38792592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38772871 38792592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38772871 38792592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38804226 38890148 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr14 38804227 38925907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38804227 38925907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38804247 38890333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38804247 38925907 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 38846023 38846123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38866403 39455389 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LINC00639 chr1 43888384 43943775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HYI,SZT2 chr1 43888384 43943775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYI,SZT2 chr14 38909477 38909656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38924386 38924829 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 43892913 43892967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SZT2 chr14 38936709 38971371 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 38936709 38971371 Gain or loss Cancer - 20668451 NOT_FOUND chr14 38936709 38971371 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 38936709 38971371 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 38936709 38971371 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 38936709 38971371 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 38936718 38971371 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 38936718 38971371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38936718 38971371 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 38936718 38971371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 38944845 39198025 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr14 38959261 38959361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 38997859 38997914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43900000 46500000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CCDC24,DMAP1,DPH2,EIF2B3,ERI3,GPBP1L1,HECTD3,HPDL,HYI,IPO13,IPP,KDM4A,KDM4A-AS1,KIF2C,KLF17,LOC400752,MAST2,MIR5584,MMACHC,MUTYH,NASP,PLK3,PRDX1,PTCH2,PTPRF,RNF220,RPS15AP10,RPS8,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,SZT2,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,UROD,ZSWIM5 chr1 43900000 46500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CCDC24,DMAP1,DPH2,EIF2B3,ERI3,GPBP1L1,HECTD3,HPDL,HYI,IPO13,IPP,KDM4A,KDM4A-AS1,KIF2C,KLF17,LOC400752,MAST2,MIR5584,MMACHC,MUTYH,NASP,PLK3,PRDX1,PTCH2,PTPRF,RNF220,RPS15AP10,RPS8,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,SZT2,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,UROD,ZSWIM5 chr1 43900000 46500000 Copy number Breast cancer CGH array 20680643 AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CCDC24,DMAP1,DPH2,EIF2B3,ERI3,GPBP1L1,HECTD3,HPDL,HYI,IPO13,IPP,KDM4A,KDM4A-AS1,KIF2C,KLF17,LOC400752,MAST2,MIR5584,MMACHC,MUTYH,NASP,PLK3,PRDX1,PTCH2,PTPRF,RNF220,RPS15AP10,RPS8,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,SZT2,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,UROD,ZSWIM5 chr1 43900000 46500000 Copy number Normal - 21701786 AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CCDC24,DMAP1,DPH2,EIF2B3,ERI3,GPBP1L1,HECTD3,HPDL,HYI,IPO13,IPP,KDM4A,KDM4A-AS1,KIF2C,KLF17,LOC400752,MAST2,MIR5584,MMACHC,MUTYH,NASP,PLK3,PRDX1,PTCH2,PTPRF,RNF220,RPS15AP10,RPS8,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,SZT2,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,UROD,ZSWIM5 chr1 43900000 51300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGBL4,AKR1A1,ARTN,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BEND5,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CCDC24,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMAP1,DMBX1,DMRTA2,DPH2,EIF2B3,ELAVL4,ERI3,FAAH,FAF1,FOXD2,FOXD2-AS1,FOXE3,GPBP1L1,HECTD3,HPDL,HYI,IPO13,IPP,KDM4A,KDM4A-AS1,KIAA0494,KIAA0494-AS1,KIF2C,KLF17,KNCN,LOC400752,LOC729041,LRRC41,LURAP1,MAST2,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MUTYH,NASP,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PLK3,POMGNT1,PRDX1,PTCH2,PTPRF,RAD54L,RNF220,RPS15AP10,RPS8,SKINTL,SLC5A9,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,SPATA6,ST3GAL3,STIL,SZT2,TAL1,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,TRABD2B,TSPAN1,UQCRH,UROD,ZSWIM5 chr1 43900000 60900000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ACOT11,AGBL4,AKR1A1,ARTN,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BEND5,BEST4,BSND,BTBD19,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C1orf228,C1orf87,C8A,C8B,CC2D1B,CCDC163P,CCDC17,CCDC24,CDCP2,CDKN2C,CMPK1,CPT2,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DHCR24,DIO1,DMAP1,DMBX1,DMRTA2,DMRTB1,DPH2,ECHDC2,EIF2B3,ELAVL4,EPS15,ERI3,FAAH,FAF1,FAM151A,FAM159A,FGGY,FOXD2,FOXD2-AS1,FOXE3,GLIS1,GPBP1L1,GPX7,HEATR8,HEATR8-TTC4,HECTD3,HOOK1,HPDL,HSD52,HSPB11,HYI,IPO13,IPP,JUN,KDM4A,KDM4A-AS1,KIAA0494,KIAA0494-AS1,KIF2C,KLF17,KNCN,KTI12,LDLRAD1,LOC100131060,LOC100507564,LOC100507634,LOC400752,LOC729041,LRP8,LRRC41,LRRC42,LURAP1,MAGOH,MAST2,MIR4422,MIR4711,MIR4781,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MRPL37,MUTYH,MYSM1,NASP,NRD1,NSUN4,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PLK3,PODN,POMGNT1,PPAP2B,PRDX1,PRKAA2,PRPF38A,PTCH2,PTPRF,RAB3B,RAD54L,RNF11,RNF220,RPS15AP10,RPS8,SCP2,SELRC1,SKINTL,SLC1A7,SLC25A3P1,SLC5A9,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,SPATA6,SSBP3,ST3GAL3,STIL,SZT2,TACSTD2,TAL1,TCEANC2,TCTEX1D4,TESK2,TMEM48,TMEM53,TMEM59,TMEM61,TMEM69,TOE1,TRABD2B,TSPAN1,TTC22,TTC39A,TTC4,TXNDC12,UQCRH,UROD,USP24,YIPF1,ZCCHC11,ZFYVE9,ZSWIM5,ZYG11A,ZYG11B chr14 39017534 39017618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39021448 39021548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39040838 39074763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 39048047 39049018 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 39061341 39061491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39096649 41233862 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTAGE5,FBXO33,GEMIN2,LINC00639,LOC100288846,MIA2,PNN,SEC23A,TRAPPC6B chr14 39108610 39153454 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 39129247 39129347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39158573 39158673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39168143 39169965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 391832 51343413 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABHD12B,ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARF6,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ATL1,ATP5S,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf119,C14orf176,C14orf182,C14orf183,C14orf23,C14orf28,C14orf93,CBLN3,CCNB1IP1,CDH24,CDKL1,CEBPE,CFL2,CHD8,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,COCH,CPNE6,CTAGE5,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DNAAF2,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EMC9,FAM177A1,FAM179B,FANCM,FBXO33,FITM1,FKBP3,FOXA1,FOXG1,FSCB,G2E3,GEMIN2,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHDC1,KLHDC2,KLHL28,KLHL33,L2HGDH,LINC00639,LINC00641,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100506071,LOC642426,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,MAP4K5,MBIP,MDGA2,MDP1,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4503,MIR4707,MIR548AI,MIR548Y,MIR624,MIS18BP1,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NEMF,NFATC4,NFKBIA,NGDN,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PAX9,PCK2,PNN,PNP,POLE2,POTEG,POTEM,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PRPF39,PSMA6,PSMB11,PSMB5,PSME1,PSME2,PTCSC3,RAB2B,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPL10L,RPL36AL,RPPH1,RPS29,SALL2,SAV1,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD127,SNORD8,SNORD9,SNX6,SOS2,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TRAPPC6B,TSSK4,TTC5,ZFHX2,ZNF219 chr14 39183753 39184472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 39190540 39190638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39215001 40682400 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTAGE5,FBXO33,GEMIN2,LINC00639,LOC100288846,MIA2,PNN,SEC23A,TRAPPC6B chr14 39277404 39277484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00639 chr14 39304108 40014012 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CTAGE5,FBXO33,GEMIN2,LINC00639,LOC100288846,MIA2,PNN,SEC23A,TRAPPC6B chr1 43935580 43935680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39399933 40960909 LOH Normal High-resolution SNP genotyping 21211785 CTAGE5,FBXO33,GEMIN2,LOC100288846,MIA2,PNN,SEC23A,TRAPPC6B chr14 39450728 40366399 LOH Normal High-resolution SNP genotyping 21211785 CTAGE5,FBXO33,GEMIN2,LOC100288846,MIA2,PNN,SEC23A,TRAPPC6B chr1 43945805 44169417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM4A,KDM4A-AS1,PTPRF chr1 43945805 44169417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM4A,KDM4A-AS1,PTPRF chr14 39540270 39540370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEC23A chr1 43954725 43954809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 39588170 48554599 Copy number gain Normal High-resolution SNP genotyping 21211785 C14orf28,CTAGE5,FAM179B,FANCM,FBXO33,FKBP3,FSCB,GEMIN2,KLHL28,LINC00648,LOC100288846,LRFN5,MDGA2,MIA2,MIR548Y,MIS18BP1,PNN,PRPF39,RPL10L,SNORD127,TRAPPC6B chr14 39622473 39622573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAPPC6B chr14 39665369 39704623 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIA2 chr14 39676557 39688471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 39677661 39704787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIA2 chr14 39679001 39688000 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr14 39679567 39687404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 43973559 44007469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRF chr14 39775280 40048867 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CTAGE5,FBXO33 chr14 39807334 39839763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTAGE5 chr1 43981687 43981996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 39821119 39821219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43985237 43986376 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 39875206 40301762 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 FBXO33 chr14 39916003 39917738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 39919336 39920327 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 39930844 39968752 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 39936006 39936094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39940729 39942282 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 39943845 39962304 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 39957979 39958066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39960776 39960857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 39968249 40945266 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr14 39985424 39985499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 43999975 44000065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRF chr14 40014012 40287052 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr14 40070726 40071726 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 40083926 44085224 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LRFN5 chr14 40164219 40164319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40181956 40182089 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 40192142 40192237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 40277626 42934100 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRFN5 chr14 40280766 40306074 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 40303072 40303141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40309244 40309344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40312770 40312968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40401022 40401117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40425294 40425368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40428504 40755943 Duplication Intellectual disability Array CGH 22102821 NOT_FOUND chr14 40444820 40444915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40455256 40515022 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 40541848 40546681 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 40541848 40555277 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 NOT_FOUND chr14 40541848 40555277 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 NOT_FOUND chr14 40543837 40893934 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 44054518 44054618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRF chr14 40546681 40555277 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 40555277 40567355 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 40579472 40579685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40579569 40579669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40579702 40579811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40592217 40592412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40612280 40647692 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr14 40655702 40677279 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 40667300 40727087 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 40672644 40727087 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 40673884 40738084 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr14 40673884 40739852 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr14 40677334 40736448 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr14 40678096 40727087 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 40678287 40739403 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 40678287 40739403 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 40679126 40739491 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 40679126 40739491 Deletion Non-syndromic sensorineural hearing loss 370K1,370K2,Agilent24M 19587683 NOT_FOUND chr14 40680006 40739688 Loss Normal 244K array 17666407 NOT_FOUND chr14 40680234 40727087 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 40680234 40786324 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 40680235 40739851 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr14 40680246 40727099 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 44068085 44072004 Gain and loss Pancreatic cancer SNP array 17952125 PTPRF chr14 40684858 40727087 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 40696499 40696579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40739788 40785386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 40754876 106368585 Copy number Lung cancer paired-end sequencing 18438408 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARF6,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKL1,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00640,LINC00642,LINC00643,LINC00648,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MDGA2,MED6,MEG3,MEG8,MEG9,METTL21D,MGAT2,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548Y,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PRPF39,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD127,SNORD56B,SNW1,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 40761200 40826162 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr1 44081704 44102786 Gain and loss Pancreatic cancer SNP array 17952125 PTPRF chr14 40819351 40863617 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 40882890 40883091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44088308 44088350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRF chr1 44088561 44089992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRF chr14 40888247 40888320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 40903755 40937956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 40914303 40914398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 40945266 41755671 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr14 41000000 106368585 Gain Glioblastoma multiforme conventional CGH 21080181 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARF6,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf28,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKL1,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00640,LINC00642,LINC00643,LINC00648,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRFN5,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MDGA2,MED6,MEG3,MEG8,MEG9,METTL21D,MGAT2,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548Y,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PRPF39,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD127,SNORD56B,SNW1,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 41000000 43200000 Microdeletion Immune disease - 21076436 LRFN5 chr14 41000000 43200000 Microdeletion Immune disease Affymetrix Genome-Wide Human SNP Array 6.0 platform 21042300 LRFN5 chr14 41000000 43200000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 LRFN5 chr14 41000000 48000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,LRFN5,MDGA2,MIS18BP1,PRPF39,RPL10L,SNORD127 chr14 41000000 48300000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,LINC00648,LRFN5,MDGA2,MIR548Y,MIS18BP1,PRPF39,RPL10L,SNORD127 chr1 44100000 46800000 Copy number Colorectal cancer - 19287155 AKR1A1,ARTN,ATP6V0B,B4GALT2,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CCDC24,DMAP1,DPH2,EIF2B3,ERI3,GPBP1L1,HECTD3,HPDL,IPO13,IPP,KDM4A,KDM4A-AS1,KIF2C,KLF17,LOC400752,LRRC41,LURAP1,MAST2,MIR5584,MMACHC,MUTYH,NASP,PIK3R3,PLK3,POMGNT1,PRDX1,PTCH2,RAD54L,RNF220,RPS15AP10,RPS8,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,TSPAN1,UQCRH,UROD,ZSWIM5 chr14 41001022 41001122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44104752 44108138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44109704 44113059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 41097662 41768298 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 41097662 41820416 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 41106039 41106139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44111455 44127564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM4A chr14 41115623 41329261 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 44114197 44125932 Gain and loss Pancreatic cancer SNP array 17952125 KDM4A chr14 41146523 41443498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 41146523 41443498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 41146523 41443498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 41201628 41201728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44126373 44131289 Gain and loss Pancreatic cancer SNP array 17952125 KDM4A chr14 41308915 41309004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44132267 44159042 Gain and loss Pancreatic cancer SNP array 17952125 KDM4A chr1 4413251 4413331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 41347362 41347523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 41494344 41512795 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 41494344 41514782 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 41512283 42184217 Copy number loss Normal High-resolution SNP genotyping 21211785 LRFN5 chr14 41512283 42184217 LOH Normal High-resolution SNP genotyping 21211785 LRFN5 chr14 41556072 41556386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 41603993 41604093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 41617364 42503227 LOH Normal High-resolution SNP genotyping 21211785 LRFN5 chr14 41634412 42844607 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LRFN5 chr1 44168501 44274500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM4A,KDM4A-AS1,ST3GAL3 chr14 41710083 41794308 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 44171579 44175471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM4A-AS1,ST3GAL3 chr1 44171579 44175471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM4A-AS1,ST3GAL3 chr14 41720679 41720995 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 41830134 41830234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 41830827 41831173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 41839704 41839815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44185198 44206280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44185198 44206280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 41867297 41867397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 41907247 41925455 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 41907247 42766483 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRFN5 chr14 41910342 41925455 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 41918559 41926850 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 41922986 41923086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 41933545 42078579 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LRFN5 chr14 41935367 42030401 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 41943991 41944756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 41948896 41949111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 41949070 41949150 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 41956078 41956178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 41972644 41973182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 41980181 41980281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 41993377 41993477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 41996736 79037514 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARF6,ARG2,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BATF,BMP4,C14orf1,C14orf101,C14orf105,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf178,C14orf182,C14orf183,C14orf28,C14orf37,C14orf39,CCDC175,CCDC176,CDKL1,CDKN3,CGRRF1,CHURC1,CHURC1-FNTB,CNIH,COQ6,COX16,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DHRS7,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM179B,FAM71D,FANCM,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLVCR2,FNTB,FOS,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,GALNTL1,GCH1,GMFB,GNG2,GNPNAT1,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPX2,GSTZ1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,JKAMP,KCNH5,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LIN52,LINC00238,LINC00520,LINC00640,LINC00643,LINC00648,LOC100289511,LOC100506321,LOC145474,LOC731223,LRFN5,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MDGA2,MED6,METTL21D,MGAT2,MIR1260A,MIR4308,MIR4505,MIR4706,MIR4708,MIR4709,MIR548Y,MIR5580,MIS18BP1,MLH3,MNAT1,MPP5,MTHFD1,NAA30,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRXN3,NUMB,OTX2,OTX2-AS1,PAPLN,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R36,PPP2R5E,PRKCH,PROX2,PRPF39,PSEN1,PSMA3,PSMC6,PTGDR,PTGER2,PTGR2,PYGL,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORD127,SNORD56B,SNW1,SOCS4,SOS2,SPTB,SPTLC2,SRSF5,STYX,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM30B,TMEM63C,TMX1,TOMM20L,TRIM9,TRMT5,TTC9,TTLL5,TXNDC16,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 42039088 42039826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 42042963 42084074 Deletion Schizophrenia NimbleGen HD2 platform 21346763 LRFN5 chr14 42056440 42062711 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 42057277 42062682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 44208240 44211630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44208240 44211630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44208771 44208912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST3GAL3 chr1 44208852 44208927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST3GAL3 chr14 42122854 42473068 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1023K arrays 21546498 LRFN5 chr1 44213189 44216558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44213189 44216558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 42133750 43057494 LOH Normal High-resolution SNP genotyping 21211785 LRFN5 chr1 44217453 44229427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44217453 44229427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 42252578 42254965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRFN5 chr14 42274532 43415401 LOH Normal High-resolution SNP genotyping 21211785 LRFN5 chr14 42277789 42277887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRFN5 chr1 44229867 44234783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44229867 44234783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44234742 44269721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44234742 44269721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 42377834 42378489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 42380705 42752264 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 42395406 43361584 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 42442661 42443059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 42470792 42470892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 42498484 42506155 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 42503268 42503368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44251863 44252156 Gain and loss Pancreatic cancer SNP array 17952125 ST3GAL3 chr1 44253615 44269895 Gain and loss Pancreatic cancer SNP array 17952125 ST3GAL3 chr14 42565623 42565702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 42565855 43281283 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 42565855 43281283 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 42575089 42575189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 42577447 42615523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 44259752 44260752 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ST3GAL3 chr1 44260511 44261511 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ST3GAL3 chr1 44260527 44275323 Substitutions and indels small cell lung cancer array-CGH 20016488 ST3GAL3 chr14 42665709 42669587 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 44268667 45000776 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ARTN,ATP6V0B,B4GALT2,CCDC24,DMAP1,DPH2,ERI3,IPO13,KLF17,RNF220,SLC6A9,ST3GAL3 chr1 44272607 44286551 Gain and loss Pancreatic cancer SNP array 17952125 ST3GAL3 chr14 42727569 43673313 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr1 44274501 45038000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARTN,ATP6V0B,B4GALT2,CCDC24,DMAP1,DPH2,ERI3,IPO13,KLF17,MIR5584,RNF220,SLC6A9,ST3GAL3 chr1 44279330 44280330 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ST3GAL3 chr1 44279742 44280742 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ST3GAL3 chr1 44280303 48578211 Substitutions and indels small cell lung cancer array-CGH 20016488 AKR1A1,ARTN,ATP6V0B,ATPAF1,ATPAF1-AS1,B4GALT2,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CCDC24,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMAP1,DMBX1,DPH2,EIF2B3,ERI3,FAAH,FOXD2,FOXD2-AS1,FOXE3,GPBP1L1,HECTD3,HPDL,IPO13,IPP,KIAA0494,KIAA0494-AS1,KIF2C,KLF17,KNCN,LOC400752,LOC729041,LRRC41,LURAP1,MAST2,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MUTYH,NASP,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PLK3,POMGNT1,PRDX1,PTCH2,RAD54L,RNF220,RPS15AP10,RPS8,SKINTL,SLC6A9,SNORD38A,SNORD38B,SNORD46,SNORD55,ST3GAL3,STIL,TAL1,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,TRABD2B,TSPAN1,UQCRH,UROD,ZSWIM5 chr14 42814031 42814613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 42827908 99117470 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AK7,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARF6,ARG2,ARID4A,ASB2,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BATF,BDKRB1,BDKRB2,BMP4,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf178,C14orf182,C14orf183,C14orf28,C14orf37,C14orf39,C14orf64,CALM1,CATSPERB,CCDC175,CCDC176,CCDC88C,CDKL1,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,EFCAB11,EIF2B2,EIF2S1,ELMSAN1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO34,FCF1,FERMT2,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KLHL28,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00341,LINC00520,LINC00521,LINC00617,LINC00640,LINC00642,LINC00643,LINC00648,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MDGA2,MED6,METTL21D,MGAT2,MIR1260A,MIR3173,MIR4308,MIR4505,MIR4706,MIR4708,MIR4709,MIR548Y,MIR5580,MIS18BP1,MLH3,MNAT1,MOAP1,MPP5,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,OTUB2,OTX2,OTX2-AS1,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R36,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PRPF39,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA79,SNORD127,SNORD56B,SNW1,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TOMM20L,TRIM9,TRIP11,TRMT5,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 42828345 44176016 Deletion Esophageal cancer affymetrix genechip human mapping 279K Nsp arrays 21851588 NOT_FOUND chr14 42844674 42845674 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 44288152 44288245 Gain and loss Pancreatic cancer SNP array 17952125 ST3GAL3 chr1 44288153 44288245 Gain and loss Pancreatic cancer SNP array 17952125 ST3GAL3 chr14 42887000 43214000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 NOT_FOUND chr14 42889286 43311056 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr14 42893411 42894562 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr14 42896380 43311056 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr14 42945635 42945735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 42969200 42969282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 43064535 43118976 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 43079840 43080580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 4430862 4431079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 43102466 43422032 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr14 43102466 44308706 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr14 43200000 48300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,LINC00648,MDGA2,MIR548Y,MIS18BP1,PRPF39,RPL10L,SNORD127 chr14 43200000 48300000 Copy number Normal - 21701786 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,LINC00648,MDGA2,MIR548Y,MIS18BP1,PRPF39,RPL10L,SNORD127 chr14 43200000 48300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,LINC00648,MDGA2,MIR548Y,MIS18BP1,PRPF39,RPL10L,SNORD127 chr14 43247278 43534554 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 44326220 44326352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 43304042 43971118 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 43304042 43971118 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 43468955 43714231 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 44348218 44355437 Gain and loss Pancreatic cancer SNP array 17952125 ST3GAL3 chr14 43497591 43511451 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 43498068 43498168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 43499595 43511451 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 43524894 43584372 Copy number Normal - 20703242 NOT_FOUND chr14 43524894 43690442 Copy number Type 2 diabetes ILLumia HumanHap303 BeadChip 21526130 NOT_FOUND chr14 43544413 43571678 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 44355357 44355650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44355359 44355656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44355836 44489973 Gain and loss Pancreatic cancer SNP array 17952125 ARTN,ATP6V0B,B4GALT2,CCDC24,DPH2,IPO13,SLC6A9,ST3GAL3 chr1 44357109 44373376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44357109 44373376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 43571678 43600205 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 43600205 43602046 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 44360412 44360771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 43623675 43623730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 43659163 43659714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 43684946 44415270 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 NOT_FOUND chr14 43688550 43723219 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr14 43697021 45160948 LOH Normal High-resolution SNP genotyping 21211785 FSCB chr1 44370951 44371004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST3GAL3 chr14 43720124 45863670 LOH Normal High-resolution SNP genotyping 21211785 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,MIS18BP1,PRPF39,SNORD127 chr14 43733199 43734199 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 44376101 44377072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 43762662 43795865 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 43845483 43845626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 43866298 43866377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 43889940 43997744 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 44389060 44389915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 43901116 43901216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44391644 44391739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr1 44393287 44393560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL3 chr14 43946101 45135200 Copy number Normal ReadDepth: A Parallel R Package 21305028 FSCB chr14 43954142 43986097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 44032046 44032146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 44043295 44046208 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 44043295 44046208 Gain or loss Cancer - 20668451 NOT_FOUND chr14 44043295 44046208 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 44043295 44046208 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 44043295 44046208 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 44043295 44046208 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 44043295 44046232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44043295 44046232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44043463 44045940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44076228 44308706 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr14 44083563 44083663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44410765 44410978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44127583 44383416 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 44143815 46076099 LOH Normal High-resolution SNP genotyping 21211785 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,MIS18BP1,PRPF39,SNORD127 chr14 44208204 44208304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 44246789 44295014 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 44251850 44292321 Loss Normal 244K array 17666407 NOT_FOUND chr14 44254784 44320168 Deletion Mortal Illumina 550K array 21835882 NOT_FOUND chr14 44311639 44311739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 44369004 46383842 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,MIS18BP1,PRPF39,SNORD127 chr14 44373528 44409530 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 44399431 44402602 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44410479 44443096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 44436257 44446210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44436257 44446210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44439367 44444467 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44444576 44458938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B4GALT2,CCDC24 chr1 44444576 44458938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B4GALT2,CCDC24 chr14 44463298 44500929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44463298 44500929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44465352 44465942 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 44467768 44500900 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44489073 44514410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 44501161 44613383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44501166 44613384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44501166 44613384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44527416 44572421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 44538511 44610888 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 44559294 44559833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44565513 45608748 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,PRPF39,SNORD127 chr14 44590000 47370000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,MDGA2,MIS18BP1,PRPF39,RPL10L,SNORD127 chr1 44459330 44593526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC24,KLF17,SLC6A9 chr1 44459330 44593526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC24,KLF17,SLC6A9 chr14 44606753 44606853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 44623074 44654552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44623080 44654554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44623080 44654554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44627196 44627259 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44627196 44627261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44462989 44463041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A9 chr14 44638408 44640897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44654856 44674272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44654856 44674272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44654859 44674272 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44665321 44670589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44668504 47033221 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,MIS18BP1,PRPF39,SNORD127 chr14 44674885 44739843 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 44674885 44739843 Gain or loss Cancer - 20668451 NOT_FOUND chr14 44674885 44739843 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 44674885 44739843 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 44674885 44739843 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 44674885 44739843 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 44674885 44739843 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 44674893 44739835 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44674900 44739835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44674900 44739835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44691112 44691192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 44742144 44792146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44742144 44792146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44742144 44792146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44757809 44757876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 44775832 45052160 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FSCB chr14 44797556 44797588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 44813312 44813407 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44813312 44813409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 44813312 44813430 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44824833 44924986 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr14 44828989 44829223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 44830111 49042122 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,LINC00648,MDGA2,MIR548Y,MIS18BP1,PRPF39,RPL10L,SNORD127 chr14 44890744 45052160 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FSCB chr14 44891993 46560245 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C14orf28,FAM179B,FANCM,FKBP3,FSCB,KLHL28,MIS18BP1,PRPF39,SNORD127 chr14 44895794 45085456 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FSCB chr14 44895806 45085468 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FSCB chr14 44957900 44958217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 44975886 44980488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FSCB chr14 44998235 45042672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 45013838 45014096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 45045345 45045445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44510065 44573467 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 45157752 45157902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44525487 44525588 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44525489 44525586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44540053 44786489 Gain and loss Pancreatic cancer SNP array 17952125 DMAP1,ERI3,KLF17 chr14 45410710 45655959 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 FAM179B,FANCM,FKBP3,KLHL28,PRPF39,SNORD127 chr14 45430103 45430191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL28 chr14 45472823 45472908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM179B chr1 4454952 4455011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44552443 44552543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 45537691 46539612 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FAM179B,FANCM,FKBP3,MIS18BP1,PRPF39,SNORD127 chr14 45555919 45556019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRPF39 chr14 45561879 45874496 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 FANCM,FKBP3,MIS18BP1,PRPF39,SNORD127 chr14 45598058 45654395 Gain or loss Breast cancer - 20668451 FANCM,FKBP3 chr14 45598058 45654395 Gain or loss Cancer - 20668451 FANCM,FKBP3 chr14 45598058 45654395 Gain or loss Lung cancer - 20668451 FANCM,FKBP3 chr14 45598058 45654395 Gain or loss Ovarian cancer - 20668451 FANCM,FKBP3 chr14 45598058 45654395 Gain or loss Pancreas cancer - 20668451 FANCM,FKBP3 chr14 45598058 45654395 Gain or loss Prostate cancer - 20668451 FANCM,FKBP3 chr14 45647674 45647993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FANCM chr14 45658709 45660810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FANCM chr14 45666138 45666238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FANCM chr14 45671469 45678674 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 MIS18BP1 chr14 45699127 45700133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIS18BP1 chr14 45846544 45846613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 45854343 79620862 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARF6,ARG2,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BATF,BMP4,C14orf1,C14orf101,C14orf105,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf178,C14orf182,C14orf183,C14orf37,C14orf39,CCDC175,CCDC176,CDKL1,CDKN3,CGRRF1,CHURC1,CHURC1-FNTB,CNIH,COQ6,COX16,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DHRS7,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM71D,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLVCR2,FNTB,FOS,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALNTL1,GCH1,GMFB,GNG2,GNPNAT1,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPX2,GSTZ1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,JKAMP,KCNH5,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LIN52,LINC00238,LINC00520,LINC00640,LINC00643,LINC00648,LOC100289511,LOC100506321,LOC145474,LOC731223,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MDGA2,MED6,METTL21D,MGAT2,MIR1260A,MIR4308,MIR4505,MIR4706,MIR4708,MIR4709,MIR548Y,MIR5580,MLH3,MNAT1,MPP5,MTHFD1,NAA30,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRXN3,NUMB,OTX2,OTX2-AS1,PAPLN,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R36,PPP2R5E,PRKCH,PROX2,PSEN1,PSMA3,PSMC6,PTGDR,PTGER2,PTGR2,PYGL,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPL10L,RPL13AP3,RPL36AL,RPS29,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORD56B,SNW1,SOCS4,SOS2,SPTB,SPTLC2,SRSF5,STYX,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM30B,TMEM63C,TMX1,TOMM20L,TRIM9,TRMT5,TTC9,TTLL5,TXNDC16,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr1 44586016 44586106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF17 chr14 45863402 46018276 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 45880874 45908320 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 45900206 45900338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 4459579 4459649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44595979 44596277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLF17 chr14 45980155 45998516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 46053857 46053957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 46099828 46099860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 46124835 46124925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 46189969 46190778 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr14 46190045 46190689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 46190045 46190689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44628981 44629082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 46296283 46296383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 46309959 47379345 LOH Normal High-resolution SNP genotyping 21211785 MDGA2,RPL10L chr14 46379045 47213703 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPL10L chr14 46379045 47213703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPL10L chr14 46379045 47213703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPL10L chr14 46379046 47213542 Gain and loss Pancreatic cancer SNP array 17952125 RPL10L chr14 46383842 46667622 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr1 44643453 44889983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DMAP1,ERI3,RNF220 chr1 44643453 44889983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DMAP1,ERI3,RNF220 chr14 46440924 47473862 Deletion Cancer single-nucleotide polymorphism array 19907438 MDGA2,RPL10L chr1 44647386 44647529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 44648873 44682342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMAP1 chr14 46499374 46499499 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 46499389 46499499 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 46503864 46504175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 46623898 46623998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 46629807 47675686 LOH Normal High-resolution SNP genotyping 21211785 MDGA2,RPL10L chr14 46661752 46661837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 46673784 46673859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 46739729 46740057 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 46765999 46786720 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr14 46792508 46792603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 46808221 49012005 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00648,MDGA2,MIR548Y,RPL10L chr14 46825355 46847960 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 46829209 46853173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 46898992 46899092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44697854 45272322 LOH Normal High-resolution SNP genotyping 21211785 BEST4,C1orf228,ERI3,KIF2C,MIR5584,PLK3,RNF220,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TMEM53 chr14 46983063 46983447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 46983099 46983447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 47026914 47027014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 47067302 47067334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 47085083 47085183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 47105978 47106078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 47160977 47161077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 47200000 67900000 Loss Malignant peripheral nerve sheath tumor Array CGH 18522746 ABHD12B,ACTR10,AKAP5,AP5M1,ARF6,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BMP4,C14orf101,C14orf105,C14orf166,C14orf182,C14orf183,C14orf37,C14orf39,CCDC175,CDKL1,CDKN3,CGRRF1,CHURC1,CHURC1-FNTB,CNIH,DAAM1,DACT1,DDHD1,DHRS7,DLGAP5,DNAAF2,EIF2S1,ERO1L,ESR2,EXOC5,FAM71D,FBXO34,FERMT2,FLJ22447,FLJ31306,FNTB,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GCH1,GMFB,GNG2,GNPNAT1,GPHB5,GPHN,GPR135,GPR137C,GPX2,HIF1A,HIF1A-AS2,HSPA2,JKAMP,KCNH5,KIAA0586,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LINC00238,LINC00520,LINC00640,LINC00643,LINC00648,LOC100506321,LRR1,MAP4K5,MAPK1IP1L,MAX,MDGA2,METTL21D,MGAT2,MIR4308,MIR4706,MIR4708,MIR548Y,MIR5580,MNAT1,MPP5,MTHFD1,NAA30,NEMF,NID2,NIN,OTX2,OTX2-AS1,PCNXL4,PELI2,PLEK2,PLEKHG3,POLE2,PPM1A,PPP1R36,PPP2R5E,PRKCH,PSMA3,PSMC6,PTGDR,PTGER2,PYGL,RAB15,RHOJ,RPL13AP3,RPL36AL,RPS29,RTN1,SAMD4A,SAV1,SGPP1,SIX1,SIX4,SIX6,SLC35F4,SLC38A6,SNAPC1,SOCS4,SOS2,SPTB,STYX,SYNE2,SYT16,TBPL2,TEX21P,TIMM9,TMEM30B,TMX1,TOMM20L,TRIM9,TRMT5,TXNDC16,WDHD1,WDR89,ZBTB1,ZBTB25 chr14 47200000 96300000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARF6,ARG2,ARID4A,ASB2,ATG14,ATL1,ATP5S,ATP6V1D,ATXN3,BATF,BMP4,BTBD7,C14orf1,C14orf101,C14orf105,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf178,C14orf182,C14orf183,C14orf37,C14orf39,CALM1,CATSPERB,CCDC175,CCDC176,CCDC88C,CDKL1,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,EFCAB11,EIF2B2,EIF2S1,ELMSAN1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSTZ1,GTF2A1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00341,LINC00520,LINC00521,LINC00640,LINC00642,LINC00643,LINC00648,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MDGA2,MED6,METTL21D,MGAT2,MIR1260A,MIR3173,MIR4308,MIR4505,MIR4706,MIR4708,MIR4709,MIR548Y,MIR5580,MLH3,MNAT1,MOAP1,MPP5,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,OTUB2,OTX2,OTX2-AS1,PAPLN,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R36,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA79,SNORD56B,SNW1,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TOMM20L,TRIM9,TRIP11,TRMT5,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 47241080 48703661 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00648,MDGA2,MIR548Y chr14 47245090 47245190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 47282784 47282884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44728571 44728626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERI3 chr14 47297465 47297565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 47307504 47307604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 47329907 47516073 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MDGA2 chr1 44738069 44739866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERI3 chr14 47403992 47404306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MDGA2 chr14 47422847 48078061 LOH Normal High-resolution SNP genotyping 21211785 MDGA2 chr14 47435986 47436116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47449986 47535521 Gain Normal Birdsuite, version 1.5.2 22087296 MDGA2 chr1 44748219 44748309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERI3 chr14 47485194 47712861 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MDGA2 chr14 47493254 47494254 Loss Osteosarcoma References 21215367 MDGA2 chr14 47494643 47495643 Gain Osteosarcoma References 21215367 MDGA2 chr14 47500000 51500000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ABHD12B,ARF6,ATL1,ATP5S,C14orf182,C14orf183,CDKL1,DNAAF2,KLHDC1,KLHDC2,L2HGDH,LINC00648,LRR1,MAP4K5,MDGA2,METTL21D,MGAT2,MIR548Y,NEMF,NIN,POLE2,PYGL,RPL36AL,RPS29,SAV1,SOS2,TRIM9 chr14 47535521 47568895 Gain Normal Birdsuite, version 1.5.2 22087296 MDGA2 chr14 47542379 47542454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47552146 47552246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47567106 47567206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47568895 47725196 Gain Normal Birdsuite, version 1.5.2 22087296 MDGA2 chr14 47594310 47594410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr1 44764525 45867236 LOH Normal High-resolution SNP genotyping 21211785 BEST4,BTBD19,C1orf228,EIF2B3,ERI3,HECTD3,HPDL,KIF2C,LOC400752,MIR5584,MUTYH,PLK3,PTCH2,RNF220,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TOE1,UROD,ZSWIM5 chr1 44764525 45867875 LOH Normal High-resolution SNP genotyping 21211785 BEST4,BTBD19,C1orf228,EIF2B3,ERI3,HECTD3,HPDL,KIF2C,LOC400752,MIR5584,MUTYH,PLK3,PTCH2,RNF220,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TOE1,UROD,ZSWIM5 chr1 44764525 45870428 LOH Normal High-resolution SNP genotyping 21211785 BEST4,BTBD19,C1orf228,EIF2B3,ERI3,HECTD3,HPDL,KIF2C,LOC400752,MIR5584,MUTYH,PLK3,PTCH2,RNF220,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TOE1,UROD,ZSWIM5 chr14 47659118 47659218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr1 44768661 45867236 LOH Normal High-resolution SNP genotyping 21211785 BEST4,BTBD19,C1orf228,EIF2B3,ERI3,HECTD3,HPDL,KIF2C,LOC400752,MIR5584,MUTYH,PLK3,PTCH2,RNF220,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TOE1,UROD,ZSWIM5 chr14 47732195 47851516 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MDGA2 chr14 47760979 47959934 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 MDGA2 chr14 47764679 47800259 Loss Normal Birdsuite, version 1.5.2 22087296 MDGA2 chr14 47777598 47777698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47811297 47811377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47812147 47888437 Loss Normal Birdsuite, version 1.5.2 22087296 MDGA2 chr14 47833601 47833908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MDGA2 chr14 47836110 47836334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47841003 47920779 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 MDGA2 chr14 47855163 47986721 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MDGA2 chr14 47863437 47863537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47872344 47872444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 47880179 47880285 Gain and loss Pancreatic cancer SNP array 17952125 MDGA2 chr14 47880179 47880285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MDGA2 chr1 44788595 44809192 Gain and loss Pancreatic cancer SNP array 17952125 ERI3 chr14 47896560 47896885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MDGA2 chr14 47937414 48554359 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LINC00648,MDGA2,MIR548Y chr1 44793765 44794849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERI3 chr14 47941025 47973150 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MDGA2 chr1 44800000 47600000 Gain,loss Breast cancer - 16397240 AKR1A1,ATPAF1,ATPAF1-AS1,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CYP4A11,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,EIF2B3,ERI3,FAAH,GPBP1L1,HECTD3,HPDL,IPP,KIAA0494,KIAA0494-AS1,KIF2C,KNCN,LOC400752,LOC729041,LRRC41,LURAP1,MAST2,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MUTYH,NASP,NSUN4,PIK3R3,PLK3,POMGNT1,PRDX1,PTCH2,RAD54L,RNF220,RPS15AP10,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,TSPAN1,UQCRH,UROD,ZSWIM5 chr14 48003403 48003501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 48059279 48059379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 48078061 48276783 Copy number loss Normal High-resolution SNP genotyping 21211785 LINC00648,MDGA2,MIR548Y chr1 44809487 44860354 Gain and loss Pancreatic cancer SNP array 17952125 ERI3 chr14 48112539 48112639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDGA2 chr14 48132582 48260726 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LINC00648,MDGA2,MIR548Y chr14 48154306 48154614 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 48177191 48177291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 48265939 80627188 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARF6,ARG2,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BATF,BMP4,C14orf1,C14orf101,C14orf105,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf178,C14orf182,C14orf183,C14orf37,C14orf39,CCDC175,CCDC176,CDKL1,CDKN3,CGRRF1,CHURC1,CHURC1-FNTB,CNIH,COQ6,COX16,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DHRS7,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM71D,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLVCR2,FNTB,FOS,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALNTL1,GCH1,GMFB,GNG2,GNPNAT1,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPX2,GSTZ1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,JKAMP,KCNH5,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LIN52,LINC00238,LINC00520,LINC00640,LINC00643,LOC100289511,LOC100506321,LOC145474,LOC731223,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MED6,METTL21D,MGAT2,MIR1260A,MIR4308,MIR4505,MIR4706,MIR4708,MIR4709,MIR5580,MLH3,MNAT1,MPP5,MTHFD1,NAA30,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRXN3,NUMB,OTX2,OTX2-AS1,PAPLN,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R36,PPP2R5E,PRKCH,PROX2,PSEN1,PSMA3,PSMC6,PTGDR,PTGER2,PTGR2,PYGL,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPL13AP3,RPL36AL,RPS29,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORD56B,SNW1,SOCS4,SOS2,SPTB,SPTLC2,SRSF5,STYX,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM30B,TMEM63C,TMX1,TOMM20L,TRIM9,TRMT5,TTC9,TTLL5,TXNDC16,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr1 44826900 45728871 LOH Normal High-resolution SNP genotyping 21211785 BEST4,BTBD19,C1orf228,EIF2B3,HECTD3,KIF2C,MIR5584,PLK3,PTCH2,RNF220,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TMEM53,UROD,ZSWIM5 chr14 48300000 100400000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AK7,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARF6,ARG2,ARID4A,ASB2,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BATF,BCL11B,BDKRB1,BDKRB2,BMP4,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf182,C14orf183,C14orf37,C14orf39,C14orf64,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDKL1,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,EFCAB11,EIF2B2,EIF2S1,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00341,LINC00520,LINC00521,LINC00617,LINC00640,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MED6,METTL21D,MGAT2,MIR1260A,MIR3173,MIR4308,MIR4505,MIR4706,MIR4708,MIR4709,MIR5580,MIR5698,MLH3,MNAT1,MOAP1,MPP5,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,OTUB2,OTX2,OTX2-AS1,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R36,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA79,SNORD56B,SNW1,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TOMM20L,TRIM9,TRIP11,TRMT5,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 48300000 52300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD12B,ARF6,ATL1,ATP5S,C14orf182,C14orf183,CDKL1,DNAAF2,FRMD6,FRMD6-AS1,FRMD6-AS2,KLHDC1,KLHDC2,L2HGDH,LINC00640,LRR1,MAP4K5,METTL21D,MGAT2,NEMF,NIN,POLE2,PYGL,RPL36AL,RPS29,SAV1,SOS2,TMX1,TRIM9 chr14 48300000 52300000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ABHD12B,ARF6,ATL1,ATP5S,C14orf182,C14orf183,CDKL1,DNAAF2,FRMD6,FRMD6-AS1,FRMD6-AS2,KLHDC1,KLHDC2,L2HGDH,LINC00640,LRR1,MAP4K5,METTL21D,MGAT2,NEMF,NIN,POLE2,PYGL,RPL36AL,RPS29,SAV1,SOS2,TMX1,TRIM9 chr14 48300000 52300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD12B,ARF6,ATL1,ATP5S,C14orf182,C14orf183,CDKL1,DNAAF2,FRMD6,FRMD6-AS1,FRMD6-AS2,KLHDC1,KLHDC2,L2HGDH,LINC00640,LRR1,MAP4K5,METTL21D,MGAT2,NEMF,NIN,POLE2,PYGL,RPL36AL,RPS29,SAV1,SOS2,TMX1,TRIM9 chr14 48300000 55800000 Gain,loss Breast cancer - 16397240 ABHD12B,ARF6,ATL1,ATP5S,BMP4,C14orf166,C14orf182,C14orf183,CDKL1,CDKN3,CGRRF1,CNIH,DDHD1,DLGAP5,DNAAF2,ERO1L,FBXO34,FERMT2,FRMD6,FRMD6-AS1,FRMD6-AS2,GCH1,GMFB,GNG2,GNPNAT1,GPR137C,KLHDC1,KLHDC2,L2HGDH,LGALS3,LINC00640,LRR1,MAP4K5,MAPK1IP1L,METTL21D,MGAT2,MIR4308,MIR5580,NEMF,NID2,NIN,POLE2,PSMC6,PTGDR,PTGER2,PYGL,RPL36AL,RPS29,SAMD4A,SAV1,SOCS4,SOS2,STYX,TMX1,TRIM9,TXNDC16,WDHD1 chr14 48300000 61200000 Loss Breast cancer agilent DNA microarrray 21633010 ABHD12B,ACTR10,AP5M1,ARF6,ARID4A,ATG14,ATL1,ATP5S,BMP4,C14orf101,C14orf105,C14orf166,C14orf182,C14orf183,C14orf37,C14orf39,CCDC175,CDKL1,CDKN3,CGRRF1,CNIH,DAAM1,DACT1,DDHD1,DHRS7,DLGAP5,DNAAF2,ERO1L,EXOC5,FBXO34,FERMT2,FLJ31306,FRMD6,FRMD6-AS1,FRMD6-AS2,GCH1,GMFB,GNG2,GNPNAT1,GPR135,GPR137C,JKAMP,KIAA0586,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LINC00520,LINC00640,LRR1,MAP4K5,MAPK1IP1L,METTL21D,MGAT2,MIR4308,MIR5580,NAA30,NEMF,NID2,NIN,OTX2,OTX2-AS1,PCNXL4,PELI2,POLE2,PPM1A,PSMA3,PSMC6,PTGDR,PTGER2,PYGL,RPL13AP3,RPL36AL,RPS29,RTN1,SAMD4A,SAV1,SIX1,SIX4,SIX6,SLC35F4,SOCS4,SOS2,STYX,TBPL2,TIMM9,TMX1,TOMM20L,TRIM9,TXNDC16,WDHD1 chr14 48300000 78400000 Loss Breast cancer array-CGH 22032731 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARF6,ARG2,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BATF,BMP4,C14orf1,C14orf101,C14orf105,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf178,C14orf182,C14orf183,C14orf37,C14orf39,CCDC175,CCDC176,CDKL1,CDKN3,CGRRF1,CHURC1,CHURC1-FNTB,CNIH,COQ6,COX16,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DHRS7,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM71D,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLVCR2,FNTB,FOS,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALNTL1,GCH1,GMFB,GNG2,GNPNAT1,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPX2,GSTZ1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,JKAMP,KCNH5,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LIN52,LINC00238,LINC00520,LINC00640,LINC00643,LOC100289511,LOC100506321,LOC145474,LOC731223,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MED6,METTL21D,MGAT2,MIR1260A,MIR4308,MIR4505,MIR4706,MIR4708,MIR4709,MIR5580,MLH3,MNAT1,MPP5,MTHFD1,NAA30,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NUMB,OTX2,OTX2-AS1,PAPLN,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R36,PPP2R5E,PRKCH,PROX2,PSEN1,PSMA3,PSMC6,PTGDR,PTGER2,PTGR2,PYGL,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPL13AP3,RPL36AL,RPS29,RPS6KL1,RTN1,SAMD15,SAMD4A,SAV1,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORD56B,SNW1,SOCS4,SOS2,SPTB,SPTLC2,SRSF5,STYX,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM30B,TMEM63C,TMX1,TOMM20L,TRIM9,TRMT5,TTC9,TTLL5,TXNDC16,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 48327108 48327140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 4483755 4483855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284661 chr14 48426019 48603802 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr14 48478091 48478181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 48490313 48490408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 48537099 48537194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 48544093 49767751 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 44856551 44856666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44856551 44856667 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 48606540 48606640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 48639394 49951704 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr1 44865820 44865935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44865834 44865933 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44865844 47380405 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,ATPAF1,ATPAF1-AS1,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,CYP4B1,CYP4Z2P,DMBX1,EIF2B3,FAAH,GPBP1L1,HECTD3,HPDL,IPP,KIAA0494,KIAA0494-AS1,KIF2C,KNCN,LOC400752,LOC729041,LRRC41,LURAP1,MAST2,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MUTYH,NASP,NSUN4,PIK3R3,PLK3,POMGNT1,PRDX1,PTCH2,RAD54L,RNF220,RPS15AP10,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,TSPAN1,UQCRH,UROD,ZSWIM5 chr14 48691968 48692035 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 48713243 48713343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 48741623 48742128 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 44874644 44902499 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr1 44874646 44912702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 44874646 44912702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 48748497 48748597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 48753101 106368585 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARF6,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKL1,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00640,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MED6,MEG3,MEG8,MEG9,METTL21D,MGAT2,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 48795279 48808478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 48806826 48807826 Loss Osteosarcoma References 21215367 NOT_FOUND chr1 44883717 44883802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr1 44886839 44887356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 48879628 106278173 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARF6,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf182,C14orf183,C14orf2,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKL1,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00640,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LRR1,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MED6,MEG3,MEG8,MEG9,METTL21D,MGAT2,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NEMF,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POLE2,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPL36AL,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr1 44894628 44894728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr1 44900782 46753026 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,EIF2B3,GPBP1L1,HECTD3,HPDL,IPP,KIF2C,LOC400752,LRRC41,LURAP1,MAST2,MIR5584,MMACHC,MUTYH,NASP,PIK3R3,PLK3,POMGNT1,PRDX1,PTCH2,RAD54L,RNF220,RPS15AP10,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,TSPAN1,UROD,ZSWIM5 chr14 49010542 49012878 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 49028194 49028339 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 49070698 49070826 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 44907408 44907481 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49089101 49089187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49089101 49089187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44910339 44913505 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr1 44910629 44910708 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr1 44911255 44911358 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr1 44911257 44911356 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49113791 49122844 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 49113797 49122844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49113809 49122844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49113809 49122844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49123048 49123344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49123048 49123346 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44912607 44912677 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr1 44912608 44912677 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49128706 49128805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49128708 49128804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44912981 44963848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 44912981 44963848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 44913155 44913223 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49134881 49135330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49135165 49151139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49135165 49151705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49135165 49151705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44915091 44915480 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49155159 49157099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49155159 49157099 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49155159 49157099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44915721 46580720 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,EIF2B3,GPBP1L1,HECTD3,HPDL,IPP,KIF2C,LOC400752,MAST2,MIR5584,MMACHC,MUTYH,NASP,PIK3R3,PLK3,PRDX1,PTCH2,RNF220,RPS15AP10,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,UROD,ZSWIM5 chr14 49157239 49159948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49157239 49159948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49157248 49159924 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49157503 49187820 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr14 49158448 49220099 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 NOT_FOUND chr14 4915949 49157239 Copy number Autism exome sequencing 22495311 ABHD4,ACIN1,ADCY4,AJUBA,AKAP6,ANG,AP1G2,AP4S1,APEX1,ARHGAP5,ARHGAP5-AS1,ARHGEF40,BAZ1A,BCL2L2,BCL2L2-PABPN1,BRMS1L,C14orf119,C14orf176,C14orf23,C14orf28,C14orf93,CBLN3,CCNB1IP1,CDH24,CEBPE,CFL2,CHD8,CHMP4A,CIDEB,CLEC14A,CMA1,CMTM5,COCH,CPNE6,CTAGE5,CTSG,DAD1,DCAF11,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EMC9,FAM177A1,FAM179B,FANCM,FBXO33,FITM1,FKBP3,FOXA1,FOXG1,FSCB,G2E3,GEMIN2,GMPR2,GPR33,GZMB,GZMH,HAUS4,HEATR5A,HECTD1,HNRNPC,HOMEZ,IGBP1P1,IL25,INSM2,IPO4,IRF9,JPH4,KHNYN,KIAA0391,KLHL28,KLHL33,LINC00639,LINC00641,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100506071,LOC642426,LRFN5,LRP10,LRRC16B,LTB4R,LTB4R2,MBIP,MDGA2,MDP1,METTL17,METTL3,MIA2,MIPOL1,MIR208A,MIR208B,MIR4307,MIR4503,MIR4707,MIR548AI,MIR548Y,MIR624,MIS18BP1,MMP14,MRPL52,MYH6,MYH7,NDRG2,NEDD8,NEDD8-MDP1,NFATC4,NFKBIA,NGDN,NKX2-1,NKX2-8,NOP9,NOVA1,NPAS3,NRL,NUBPL,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OXA1L,PABPN1,PARP2,PAX9,PCK2,PNN,PNP,POTEG,POTEM,PPP1R3E,PPP2R3C,PRKD1,PRMT5,PRPF39,PSMA6,PSMB11,PSMB5,PSME1,PSME2,PTCSC3,RAB2B,RABGGTA,RALGAPA1,RBM23,REC8,REM2,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RPGRIP1,RPL10L,RPPH1,SALL2,SCFD1,SDR39U1,SEC23A,SFTA3,SLC22A17,SLC25A21,SLC39A2,SLC7A7,SLC7A8,SNORD126,SNORD127,SNORD8,SNORD9,SNX6,SPTSSA,SRP54,SSTR1,STRN3,STXBP6,SUPT16H,TEP1,TGM1,THTPA,TINF2,TM9SF1,TMEM55B,TOX4,TPPP2,TRAPPC6B,TSSK4,TTC5,ZFHX2,ZNF219 chr14 49161642 49171698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49161642 49171698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49161644 49170485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49170001 49172000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 49171648 50012277 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr14 49180028 49224685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49180028 49224685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49180028 49224685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44918352 44922470 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49183991 49287877 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr14 49188621 49188777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 49221012 49221129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49221012 49221129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49221012 49221133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49229610 49289610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49229610 49289610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49229610 49289610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49233431 49233503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 49239997 49240097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 49280773 49298930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 49290055 49316621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 49294722 49309600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 49295331 49307467 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 49296234 49299650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 49304076 49319605 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49304537 49319606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49304537 49319606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49320282 49389289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49320282 49389289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49320283 49389289 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44934990 44940673 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49361743 49363008 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49370560 49381302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49370560 49381302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49376193 49376295 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49376193 49376295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49390084 49390382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49390086 49390382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49399019 49399317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49399021 49399317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49403606 49403706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44940768 44941433 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49429486 49433522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49429571 49431233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49438313 49438418 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49438322 49438417 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 44944121 47040505 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,BEST4,BTBD19,C1orf228,CCDC163P,CCDC17,DMBX1,EIF2B3,FAAH,GPBP1L1,HECTD3,HPDL,IPP,KIF2C,KNCN,LOC400752,LOC729041,LRRC41,LURAP1,MAST2,MIR5584,MKNK1,MKNK1-AS1,MMACHC,MUTYH,NASP,NSUN4,PIK3R3,PLK3,POMGNT1,PRDX1,PTCH2,RAD54L,RNF220,RPS15AP10,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM53,TMEM69,TOE1,TSPAN1,UQCRH,UROD,ZSWIM5 chr14 49464699 49465699 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 49484264 49484364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 494897 497802 Copy number Autism exome sequencing 22495311 NOT_FOUND chr14 49499299 49515975 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr14 49503197 49534627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 49518180 49543988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49518180 49543988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49529233 49542987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49529233 49542987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44954647 44954762 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr1 44954664 44954760 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr1 44957031 44977701 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 49586851 49587756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49593101 49593170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 44960045 44960161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 49605036 49605280 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49605036 49605358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49605036 49605365 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49620119 49629111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49620119 49629111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49620119 49629111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49623450 49623548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49623450 49623549 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49639873 49641982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 44964320 44964408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr14 49645092 49653047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49645092 49653047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49645100 49653047 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49653595 49767849 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 49653595 49767849 Gain or loss Cancer - 20668451 NOT_FOUND chr14 49653595 49767849 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 49653595 49767849 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 49653595 49767849 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 49653595 49767849 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 49653596 49767849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49653596 49767849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49654812 49767751 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49665507 49665607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 44969314 44969429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 49774037 49848697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49774064 49848697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49777228 49777962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 44978138 45006026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 44978138 45006026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 49799425 49799525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 449830 113015620 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CD53,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM212B,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SKI,SKINTL,SLC16A4,SLC1A7,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYDE2,SYF2,SYNC,SYPL2,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr14 49834697 49834797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 49848797 49872026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49848797 49872026 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49848797 49872026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 44985506 45121348 Gain and loss Pancreatic cancer SNP array 17952125 MIR5584,RNF220,TMEM53 chr14 49866060 49952929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 49866469 49952929 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr14 49866470 49952929 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 49894470 49897634 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 49894888 49897135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 49926204 49929681 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 49931743 50003955 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr14 49954999 50069126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRR1,RPS29 chr14 49954999 50069126 Gain and loss Pancreatic cancer SNP array 17952125 LRR1,RPS29 chr14 49954999 50069126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRR1,RPS29 chr14 50004865 50004966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 50004866 50004966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 50004867 50004966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 50013536 50013636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 50040823 50307451 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DNAAF2,KLHDC1,KLHDC2,LRR1,MGAT2,NEMF,POLE2,RPL36AL,RPS29 chr14 50096580 50169508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAAF2,KLHDC1,POLE2 chr14 50096580 50169508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAAF2,KLHDC1,POLE2 chr14 50096593 50169532 Gain and loss Pancreatic cancer SNP array 17952125 DNAAF2,KLHDC1,POLE2 chr14 50102314 50147748 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POLE2 chr14 50107353 50140808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POLE2 chr1 45010902 45010975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45013828 45017038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45014123 45014202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45014749 45014852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45016102 45016171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45016649 45016717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 50170109 50204773 Gain or loss Breast cancer - 20668451 KLHDC1 chr14 50170109 50204773 Gain or loss Cancer - 20668451 KLHDC1 chr14 50170109 50204773 Gain or loss Lung cancer - 20668451 KLHDC1 chr14 50170109 50204773 Gain or loss Ovarian cancer - 20668451 KLHDC1 chr14 50170109 50204773 Gain or loss Pancreas cancer - 20668451 KLHDC1 chr14 50170109 50204773 Gain or loss Prostate cancer - 20668451 KLHDC1 chr14 50170110 50204773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHDC1 chr14 50170110 50204773 Gain and loss Pancreatic cancer SNP array 17952125 KLHDC1 chr14 50170110 50204773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC1 chr14 50171710 50181479 Amplification Gastric cancer array CGH 21811585 KLHDC1 chr14 50174156 50174449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC1 chr14 50174159 50174449 Gain and loss Pancreatic cancer SNP array 17952125 KLHDC1 chr14 50174159 50174449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC1 chr1 45018585 45018974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 50190377 50190477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHDC1 chr14 50216951 50217004 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 KLHDC1 chr1 45021844 45026013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45021844 45026013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 50256222 50367599 Gain and loss Pancreatic cancer SNP array 17952125 ARF6,NEMF chr14 50256231 50367597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARF6,NEMF chr14 50256231 50367597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARF6,NEMF chr1 45027118 45067146 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RNF220 chr1 45032188 45032288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr14 50365182 50365282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45038001 45071500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNF220 chr1 45038623 45044253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45038623 45044253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 50402270 50441438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 50402270 50441438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 50408357 50408457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 50408628 50441438 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 50441151 51231842 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATL1,ATP5S,C14orf182,C14orf183,CDKL1,L2HGDH,MAP4K5,METTL21D,NIN,SAV1,SOS2 chr14 50441687 50480984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf182 chr14 50441687 50480984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf182 chr14 50441689 50480984 Gain and loss Pancreatic cancer SNP array 17952125 C14orf182 chr1 45044172 45045544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45044172 45045544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45046877 45052185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 50478652 50479292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 50478705 50488188 Gain Normal 244K array 17666407 NOT_FOUND chr14 50485355 50501829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 50504059 50504159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 50511730 50631407 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 C14orf183,METTL21D,SOS2 chr14 50511738 50632529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf183,METTL21D,SOS2 chr14 50511738 50632529 Gain and loss Pancreatic cancer SNP array 17952125 C14orf183,METTL21D,SOS2 chr14 50511738 50632529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf183,METTL21D,SOS2 chr1 45051644 45056315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF220 chr14 50520685 50520785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45058142 45058256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45058663 45081195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr1 45058663 45081195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 50589964 50590281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOS2 chr1 45060673 45081203 Copy number Lung cancer - 20668451 RNF220 chr1 45060673 45081203 Gain or loss Breast cancer - 20668451 RNF220 chr1 45060673 45081203 Gain or loss Cancer - 20668451 RNF220 chr1 45060673 45081203 Gain or loss Lung cancer - 20668451 RNF220 chr1 45060673 45081203 Gain or loss Ovarian cancer - 20668451 RNF220 chr1 45060673 45081203 Gain or loss Pancreas cancer - 20668451 RNF220 chr1 45060673 45081203 Gain or loss Prostate cancer - 20668451 RNF220 chr14 50630001 50632000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SOS2 chr1 45067088 45067191 Gain and loss Pancreatic cancer SNP array 17952125 RNF220 chr14 50671155 50671457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOS2 chr14 50671156 50671457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOS2 chr1 45068726 45068818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr14 50754054 55408046 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD12B,ATL1,ATP5S,BMP4,C14orf166,CDKL1,CDKN3,CGRRF1,CNIH,DDHD1,ERO1L,FERMT2,FRMD6,FRMD6-AS1,FRMD6-AS2,GCH1,GMFB,GNG2,GNPNAT1,GPR137C,L2HGDH,LINC00640,MAP4K5,MIR4308,MIR5580,NID2,NIN,PSMC6,PTGDR,PTGER2,PYGL,SAMD4A,SAV1,STYX,TMX1,TRIM9,TXNDC16,WDHD1 chr1 45075652 45075684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr14 50776686 50792509 Gain and loss Pancreatic cancer SNP array 17952125 ATP5S,L2HGDH chr14 50776740 50792506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5S,L2HGDH chr14 50776740 50792506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5S,L2HGDH chr14 50780558 50780689 Gain and loss Pancreatic cancer SNP array 17952125 ATP5S chr14 50780558 50780692 Gain and loss Pancreatic cancer SNP array 17952125 ATP5S chr14 50780558 50780692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5S chr14 50790400 50790491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5S chr14 50790402 50790491 Gain and loss Pancreatic cancer SNP array 17952125 ATP5S chr14 50790403 50790491 Gain and loss Pancreatic cancer SNP array 17952125 ATP5S chr14 50800669 50801669 Loss Osteosarcoma References 21215367 CDKL1 chr14 50809894 50809987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDKL1 chr1 45082180 45082341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF220 chr14 50827429 50861329 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDKL1 chr1 45084429 45084493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr1 45084614 45084711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr1 45087424 45087500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF220 chr1 45089037 45224869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf228,KIF2C,RNF220,TMEM53 chr14 50900000 107349540 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KTN1,KTN1-AS1,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00640,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SOCS4,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 50900000 107349540 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KTN1,KTN1-AS1,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00640,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SOCS4,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 50900000 107349540 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABCD4,ABHD12B,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADAM6,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0125,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KTN1,KTN1-AS1,L3HYPDH,LGALS3,LGMN,LIN52,LINC00221,LINC00226,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00640,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NGB,NID2,NIN,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SAV1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SOCS4,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TRAF3,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 50924581 50925581 Gain Osteosarcoma References 21215367 MAP4K5 chr14 50931706 50932706 Loss Osteosarcoma References 21215367 MAP4K5 chr14 50935090 51231842 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATL1,MAP4K5,NIN,SAV1 chr14 50956419 50957419 Gain Osteosarcoma References 21215367 MAP4K5 chr14 50974535 50975535 Loss Osteosarcoma References 21215367 MAP4K5 chr1 45099069 45099169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr14 51025604 51267194 Gain or loss Breast cancer - 20668451 ATL1,NIN,SAV1 chr14 51025604 51267194 Gain or loss Cancer - 20668451 ATL1,NIN,SAV1 chr14 51025604 51267194 Gain or loss Lung cancer - 20668451 ATL1,NIN,SAV1 chr14 51025604 51267194 Gain or loss Ovarian cancer - 20668451 ATL1,NIN,SAV1 chr14 51025604 51267194 Gain or loss Pancreas cancer - 20668451 ATL1,NIN,SAV1 chr14 51025604 51267194 Gain or loss Prostate cancer - 20668451 ATL1,NIN,SAV1 chr14 51025605 51267192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATL1,NIN,SAV1 chr14 51025605 51267192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATL1,NIN,SAV1 chr14 51025605 51267195 Gain and loss Pancreatic cancer SNP array 17952125 ATL1,NIN,SAV1 chr1 45102598 45102694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr14 51041847 51041947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATL1 chr1 45106805 45106885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF220 chr14 51068603 51068703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATL1 chr14 51113794 51131043 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SAV1 chr14 51123880 51124143 Gain and loss Pancreatic cancer SNP array 17952125 SAV1 chr14 51123880 51124597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAV1 chr14 51140501 51141501 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 51141273 51141368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 51141273 51141368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 51172477 51172577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 51194511 51194611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NIN chr14 51212504 51212603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NIN chr14 51229220 51229310 Gain and loss Pancreatic cancer SNP array 17952125 NIN chr14 51229220 51229329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIN chr14 51229220 51229330 Gain and loss Pancreatic cancer SNP array 17952125 NIN chr1 45123015 45123490 Gain and loss Pancreatic cancer SNP array 17952125 TMEM53 chr14 51231379 51231652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NIN chr14 51253745 51253777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NIN chr14 51260571 51260677 Gain and loss Pancreatic cancer SNP array 17952125 NIN chr14 51260571 51260677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIN chr14 51275955 51311667 Substitutions and indels small cell lung cancer array-CGH 20016488 NIN chr14 51282000 51310022 Duplication Non-syndromic sensorineural hearing loss References 19212409 NIN chr14 51283879 51283949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NIN chr14 51293590 51294240 Gain and loss Pancreatic cancer SNP array 17952125 NIN chr14 51293590 51294240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIN chr14 51299739 51300395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 51299739 51300395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 51316899 62873787 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD12B,ACTR10,AP5M1,ARID4A,ATG14,BMP4,C14orf101,C14orf105,C14orf166,C14orf37,C14orf39,CCDC175,CDKN3,CGRRF1,CNIH,DAAM1,DACT1,DDHD1,DHRS7,DLGAP5,ERO1L,EXOC5,FBXO34,FERMT2,FLJ22447,FLJ31306,FRMD6,FRMD6-AS1,FRMD6-AS2,GCH1,GMFB,GNG2,GNPNAT1,GPR135,GPR137C,HIF1A,HIF1A-AS2,JKAMP,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LGALS3,LINC00520,LINC00640,LINC00643,MAPK1IP1L,MIR4308,MIR5580,MNAT1,NAA30,NID2,OTX2,OTX2-AS1,PCNXL4,PELI2,PPM1A,PRKCH,PSMA3,PSMC6,PTGDR,PTGER2,PYGL,RPL13AP3,RTN1,SAMD4A,SIX1,SIX4,SIX6,SLC35F4,SLC38A6,SNAPC1,SOCS4,STYX,SYT16,TBPL2,TIMM9,TMEM30B,TMX1,TOMM20L,TRIM9,TRMT5,TXNDC16,WDHD1 chr14 51343897 51344897 Loss Osteosarcoma References 21215367 ABHD12B chr1 45137303 45145893 Gain and loss Pancreatic cancer SNP array 17952125 C1orf228,TMEM53 chr14 51378064 51505245 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PYGL,TRIM9 chr14 51383702 51503506 Gain and loss Pancreatic cancer SNP array 17952125 PYGL,TRIM9 chr14 51396800 51506267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PYGL,TRIM9 chr14 51396800 51506267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PYGL,TRIM9 chr14 51414961 55482255 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BMP4,C14orf166,CDKN3,CGRRF1,CNIH,DDHD1,ERO1L,FERMT2,FRMD6,FRMD6-AS1,FRMD6-AS2,GCH1,GMFB,GNG2,GNPNAT1,GPR137C,LINC00640,MIR4308,MIR5580,NID2,PSMC6,PTGDR,PTGER2,SAMD4A,STYX,TMX1,TRIM9,TXNDC16,WDHD1 chr14 51431847 51432093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 51431977 51432080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 51432078 51432314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 51432092 51432232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 51448094 51448652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIM9 chr14 51448957 51449057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM9 chr14 51463619 51463724 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIM9 chr1 45147013 45150430 Gain and loss Pancreatic cancer SNP array 17952125 C1orf228 chr14 51474083 51474207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIM9 chr14 51483323 52477325 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C14orf166,FRMD6,FRMD6-AS1,FRMD6-AS2,GNG2,LINC00640,NID2,TMX1,TRIM9 chr14 51497389 51497489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM9 chr14 51499132 51499223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM9 chr14 51505764 51505997 Gain and loss Pancreatic cancer SNP array 17952125 TRIM9 chr1 45151171 45341321 Gain and loss Pancreatic cancer SNP array 17952125 BEST4,BTBD19,C1orf228,EIF2B3,KIF2C,PLK3,PTCH2,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4 chr14 51525943 51541164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM9 chr14 51525943 51541164 Gain and loss Pancreatic cancer SNP array 17952125 TRIM9 chr14 51525943 51541164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM9 chr14 51525977 51541170 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 TRIM9 chr14 51534052 51534133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM9 chr14 51541271 51605696 Gain and loss Pancreatic cancer SNP array 17952125 TRIM9 chr14 51541271 51606295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM9 chr14 51541271 51606295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM9 chr14 51578668 51578768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 51604001 51606500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 51654064 51654466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 51664416 51664730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 51669842 51846098 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 LINC00640,TMX1 chr14 51674252 51674352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45170582 45170685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf228 chr14 51718759 51719001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMX1 chr14 51718986 51719215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMX1 chr14 51718989 51719089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMX1 chr14 51732398 51758309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 51802623 51805291 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LINC00640 chr14 51804180 51813192 Gain or loss Breast cancer - 20668451 LINC00640 chr14 51804180 51813192 Gain or loss Cancer - 20668451 LINC00640 chr14 51804180 51813192 Gain or loss Lung cancer - 20668451 LINC00640 chr14 51804180 51813192 Gain or loss Ovarian cancer - 20668451 LINC00640 chr14 51804180 51813192 Gain or loss Pancreas cancer - 20668451 LINC00640 chr14 51804180 51813192 Gain or loss Prostate cancer - 20668451 LINC00640 chr14 51804181 51813191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00640 chr14 51804181 51813191 Gain and loss Pancreatic cancer SNP array 17952125 LINC00640 chr14 51804181 51813191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00640 chr14 51821846 51821946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00640 chr14 51826533 51826863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00640 chr14 51850862 51865072 Copy number Lung cancer - 20668451 NOT_FOUND chr14 51850862 51865072 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 51850862 51865072 Gain or loss Cancer - 20668451 NOT_FOUND chr14 51850862 51865072 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 51850862 51865072 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 51850862 51865072 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 51850862 51865072 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 51850863 51865041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 51850863 51865041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 51850863 51865070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 51863634 51863699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 51929299 51929399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD6-AS2 chr14 51967059 52088963 Gain and loss Pancreatic cancer SNP array 17952125 FRMD6,FRMD6-AS2 chr14 51967059 52088974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD6,FRMD6-AS2 chr14 51967059 52088974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD6,FRMD6-AS2 chr1 45196816 45197654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 51994896 51994981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD6,FRMD6-AS2 chr14 52019067 52019167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD6,FRMD6-AS2 chr1 45208208 45219046 Amplification or deletion Cancer Array CGH 17440070 KIF2C chr14 52089616 52174180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD6,FRMD6-AS1 chr14 52089616 52174180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD6,FRMD6-AS1 chr14 52089720 52172792 Gain and loss Pancreatic cancer SNP array 17952125 FRMD6,FRMD6-AS1 chr14 52095979 52101401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FRMD6 chr1 45210128 46572921 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,BEST4,BTBD19,CCDC163P,CCDC17,EIF2B3,GPBP1L1,HECTD3,HPDL,IPP,KIF2C,LOC400752,MAST2,MMACHC,MUTYH,NASP,PIK3R3,PLK3,PRDX1,PTCH2,RPS15AP10,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM69,TOE1,UROD,ZSWIM5 chr14 52169314 52191947 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FRMD6 chr14 52175968 52176062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD6 chr14 52178357 52232173 Gain and loss Pancreatic cancer SNP array 17952125 FRMD6 chr14 52178357 52232182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD6 chr14 52178357 52232182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD6 chr1 4522332 4522432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 52243668 52264461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 52243668 52264463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 52243668 52264463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 45226493 45226984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF2C chr14 52266648 52311409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 52266675 52311409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 52266675 52311409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 45227339 46698935 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,BEST4,BTBD19,CCDC163P,CCDC17,EIF2B3,GPBP1L1,HECTD3,HPDL,IPP,KIF2C,LOC400752,LURAP1,MAST2,MMACHC,MUTYH,NASP,PIK3R3,PLK3,POMGNT1,PRDX1,PTCH2,RPS15AP10,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4,TESK2,TMEM69,TOE1,TSPAN1,UROD,ZSWIM5 chr14 52273535 52273635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 52291321 52324939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 52300000 106368585 Gain Glioblastoma multiforme aCGH 21080181 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BMP4,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CDKN3,CEP128,CGRRF1,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,CNIH,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FERMT2,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GCH1,GLRX5,GMFB,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR137C,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KTN1,KTN1-AS1,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MAPK1IP1L,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5580,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NGB,NID2,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PSMC6,PTGDR,PTGER2,PTGR2,PTPN21,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SAMD4A,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SOCS4,SPATA7,SPTB,SPTLC2,SRSF5,STON2,STYX,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TNFAIP2,TOMM20L,TRAF3,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr1 45230093 45230482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF2C chr14 52311662 52328133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNG2 chr14 52311662 52328133 Gain and loss Pancreatic cancer SNP array 17952125 GNG2 chr14 52311662 52328133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG2 chr14 52322186 52324534 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr14 52322186 52324534 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 52322217 52324829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 52393736 52487460 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C14orf166,GNG2,NID2 chr14 52393736 52487460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf166,GNG2,NID2 chr14 52393736 52487460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf166,GNG2,NID2 chr14 52393743 52487486 Gain and loss Pancreatic cancer SNP array 17952125 C14orf166,GNG2,NID2 chr1 45239501 45258000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr1 45240799 45249614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr1 45240799 45249614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr1 45240806 45249614 Gain or loss Breast cancer - 20668451 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr1 45240806 45249614 Gain or loss Cancer - 20668451 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr1 45240806 45249614 Gain or loss Lung cancer - 20668451 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr1 45240806 45249614 Gain or loss Ovarian cancer - 20668451 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr1 45240806 45249614 Gain or loss Pancreas cancer - 20668451 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr1 45240806 45249614 Gain or loss Prostate cancer - 20668451 BEST4,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55 chr14 52415017 52415601 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GNG2 chr14 52430294 52430394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG2 chr14 52451642 52451742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 52479391 52483939 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NID2 chr14 52479391 52483939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NID2 chr1 45250417 45253928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEST4 chr1 45250417 45253928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEST4 chr1 45251361 45251446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BEST4 chr14 52515435 52516435 Gain Osteosarcoma References 21215367 NID2 chr14 52531042 52531107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NID2 chr14 52538973 52539052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45254665 45444837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD19,EIF2B3,PLK3,PTCH2,TCTEX1D4 chr1 45254665 45444837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD19,EIF2B3,PLK3,PTCH2,TCTEX1D4 chr14 52548457 52548735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 52580436 52689750 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 52580436 52689750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 52580436 52689750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 52582497 52689750 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 52629784 73351045 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ACTN1,ACTR10,ADAM20,ADAM20P1,ADAM21,ADAM21P1,AKAP5,AP5M1,ARG2,ARID4A,ATG14,ATP6V1D,BMP4,C14orf101,C14orf105,C14orf162,C14orf37,C14orf39,CCDC175,CDKN3,CGRRF1,CHURC1,CHURC1-FNTB,CNIH,COX16,DAAM1,DACT1,DCAF5,DDHD1,DHRS7,DLGAP5,DPF3,EIF2S1,ERH,ERO1L,ESR2,EXD2,EXOC5,FAM71D,FBXO34,FERMT2,FLJ22447,FLJ31306,FNTB,FUT8,FUT8-AS1,GALNTL1,GCH1,GMFB,GNPNAT1,GPHB5,GPHN,GPR135,GPR137C,GPX2,HIF1A,HIF1A-AS2,HSPA2,JKAMP,KCNH5,KIAA0247,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LGALS3,LINC00238,LINC00520,LINC00643,LOC100289511,LOC100506321,LOC145474,MAP3K9,MAPK1IP1L,MAX,MED6,MIR4308,MIR4706,MIR4708,MIR5580,MNAT1,MPP5,MTHFD1,NAA30,OTX2,OTX2-AS1,PCNX,PCNXL4,PELI2,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PPM1A,PPP1R36,PPP2R5E,PRKCH,PSMA3,PSMC6,PTGDR,PTGER2,RAB15,RAD51B,RDH11,RDH12,RGS6,RHOJ,RPL13AP3,RTN1,SAMD4A,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SMOC1,SNAPC1,SNORD56B,SOCS4,SPTB,SRSF5,STYX,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEX21P,TIMM9,TMEM229B,TMEM30B,TOMM20L,TRMT5,TTC9,TXNDC16,VTI1B,WDHD1,WDR89,ZBTB1,ZBTB25,ZFP36L1,ZFYVE26 chr1 45264042 45264115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45269123 45269155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLK3 chr14 52699657 53945264 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DDHD1,ERO1L,FERMT2,GNPNAT1,GPR137C,PSMC6,PTGDR,PTGER2,STYX,TXNDC16 chr14 52747467 52747567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 52752617 52752701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 52779109 52780740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 52862867 52862967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 52866436 52867436 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 45286782 45286882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTCH2 chr14 52869335 52869435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 52929037 52929137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TXNDC16 chr14 52932863 52933863 Loss Osteosarcoma References 21215367 TXNDC16 chr14 52984426 52984515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TXNDC16 chr14 53076409 53077409 Loss Osteosarcoma References 21215367 GPR137C chr14 53081740 53126551 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ERO1L,GPR137C chr1 45308236 45308688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTCH2 chr14 53095772 53096095 Gain and loss Pancreatic cancer SNP array 17952125 GPR137C chr14 53100828 53100923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR137C chr14 53149192 53149873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERO1L chr14 53258539 53258639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53312425 53377057 Copy number loss Normal High-resolution SNP genotyping 21211785 FERMT2 chr14 53355892 53355956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FERMT2 chr14 53390754 53390904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FERMT2 chr14 53392198 53425781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FERMT2 chr14 53399777 53399877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FERMT2 chr14 53452515 53452615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53453738 53454221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 53468182 53468282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53486204 53493279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 53486204 53493279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 53486204 53493304 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 53486204 53493304 Gain or loss Cancer - 20668451 NOT_FOUND chr14 53486204 53493304 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 53486204 53493304 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 53486204 53493304 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 53486204 53493304 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 53486207 53493362 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 53486207 53493362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 53488001 53492500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 53499501 53500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 53503319 53503419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53513210 53513310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDHD1 chr14 53527568 53528463 Gain and loss Pancreatic cancer SNP array 17952125 DDHD1 chr14 53527568 53528463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDHD1 chr1 45363340 45363430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF2B3 chr14 53633802 53634135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 53660559 53673727 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 53739001 53740500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 53779980 53783430 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 53779980 53783430 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr14 53780097 53783435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 53792755 53792845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53809758 53809858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53840000 62720000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ACTR10,AP5M1,ARID4A,ATG14,BMP4,C14orf101,C14orf105,C14orf37,C14orf39,CCDC175,CDKN3,CGRRF1,CNIH,DAAM1,DACT1,DHRS7,DLGAP5,EXOC5,FBXO34,FLJ22447,FLJ31306,GCH1,GMFB,GPR135,HIF1A,HIF1A-AS2,JKAMP,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LGALS3,LINC00520,LINC00643,MAPK1IP1L,MIR4308,MIR5580,MNAT1,NAA30,OTX2,OTX2-AS1,PCNXL4,PELI2,PPM1A,PRKCH,PSMA3,RPL13AP3,RTN1,SAMD4A,SIX1,SIX4,SIX6,SLC35F4,SLC38A6,SNAPC1,SOCS4,SYT16,TBPL2,TIMM9,TMEM30B,TOMM20L,TRMT5,WDHD1 chr14 53903941 53904037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53929501 53934000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 53933423 53956682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 53933476 53956682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 53933476 53956682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 53938646 53968772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 53952949 53953049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53956590 53977898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 53956590 53977898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 53963397 53977851 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 53970751 53970845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53988115 53988215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 53992514 53992614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54010959 54025494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54010959 54025494 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54010959 54025494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54013836 54017915 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 54017371 54017471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54036968 54069148 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr14 54046001 54047000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 54046310 54075317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54046310 54075317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54046337 54075077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 45408389 45411073 Deletion Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V3 BeadChip 22016809 EIF2B3 chr14 54101501 54105000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 54104387 54325595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54104387 54325595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54104387 54325596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54125770 54239853 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr14 54155374 54266662 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr14 54170365 54171365 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 54205175 54228126 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 54224357 54240815 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 54241556 54282039 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr14 54271543 55423303 LOH Normal High-resolution SNP genotyping 21211785 BMP4,CDKN3,CGRRF1,CNIH,GCH1,GMFB,MIR4308,MIR5580,SAMD4A,WDHD1 chr14 54367659 54367759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54378476 54439292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMP4,MIR5580 chr14 54378476 54439292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMP4,MIR5580 chr14 54378484 54439284 Gain and loss Pancreatic cancer SNP array 17952125 BMP4,MIR5580 chr14 54389559 54395802 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr14 54389559 54395802 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 54392106 54392206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54395683 54395755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54395683 54395755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54399037 54399128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54400000 55800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BMP4,CDKN3,CGRRF1,CNIH,DLGAP5,FBXO34,GCH1,GMFB,LGALS3,MAPK1IP1L,MIR4308,MIR5580,SAMD4A,SOCS4,WDHD1 chr14 54400000 55800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BMP4,CDKN3,CGRRF1,CNIH,DLGAP5,FBXO34,GCH1,GMFB,LGALS3,MAPK1IP1L,MIR4308,MIR5580,SAMD4A,SOCS4,WDHD1 chr14 54400000 55800000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 BMP4,CDKN3,CGRRF1,CNIH,DLGAP5,FBXO34,GCH1,GMFB,LGALS3,MAPK1IP1L,MIR4308,MIR5580,SAMD4A,SOCS4,WDHD1 chr14 54424334 54424402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54457534 54457634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54476692 54563557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54476692 54563557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54477357 54563274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54541281 54542155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54550294 54550348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54563594 54585957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54563594 54585957 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54563594 54585957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54588110 54606665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54588110 54606665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54588154 54607964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 45461638 45463433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54639593 56163250 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATG14,CDKN3,CGRRF1,CNIH,DLGAP5,FBXO34,GCH1,GMFB,KTN1,KTN1-AS1,LGALS3,MAPK1IP1L,MIR4308,SAMD4A,SOCS4,TBPL2,WDHD1 chr1 45464008 45556115 Gain and loss Pancreatic cancer SNP array 17952125 HECTD3,UROD,ZSWIM5 chr14 54665574 54681874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54665574 54681874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54673452 54681879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54674688 54687597 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr14 54684601 54728149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54684601 54728149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54684601 54728149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 45474435 45478467 Gain and loss Pancreatic cancer SNP array 17952125 HECTD3,UROD chr14 54761166 54761266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54765688 54766152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54765688 54774632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 45478648 45625922 Gain and loss Pancreatic cancer SNP array 17952125 UROD,ZSWIM5 chr14 54807832 54890080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDKN3 chr14 54807832 54890080 Gain and loss Pancreatic cancer SNP array 17952125 CDKN3 chr14 54807832 54890080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDKN3 chr1 45481227 45481887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UROD chr14 54815521 54815740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54815637 54815737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54815734 54815907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54821698 54822029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 54821698 54822029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 54863672 54886934 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 CDKN3 chr14 54863672 54886934 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 CDKN3 chr14 54902863 54927773 Gain and loss Pancreatic cancer SNP array 17952125 CNIH chr14 54902863 54948329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNIH,GMFB chr14 54902863 54948329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNIH,GMFB chr1 45493419 45493512 Gain and loss Pancreatic cancer SNP array 17952125 ZSWIM5 chr14 54950685 54977016 Gain and loss Pancreatic cancer SNP array 17952125 CGRRF1,GMFB chr14 54950733 54977074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGRRF1,GMFB chr14 54950733 54977074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGRRF1,GMFB chr14 54961082 54972295 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr14 54965361 54965461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 54974661 54974756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45500000 54500000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 AGBL4,AKR1A1,ATPAF1,ATPAF1-AS1,BEND5,BTF3L4,C1orf123,C1orf185,CC2D1B,CCDC163P,CCDC17,CDKN2C,CMPK1,CPT2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DIO1,DMBX1,DMRTA2,DMRTB1,ECHDC2,ELAVL4,EPS15,FAAH,FAF1,FAM159A,FOXD2,FOXD2-AS1,FOXE3,GLIS1,GPBP1L1,GPX7,HPDL,HSPB11,IPP,KIAA0494,KIAA0494-AS1,KNCN,KTI12,LDLRAD1,LOC100507564,LOC400752,LOC729041,LRP8,LRRC41,LRRC42,LURAP1,MAGOH,MAST2,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MUTYH,NASP,NRD1,NSUN4,ORC1,OSBPL9,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PODN,POMGNT1,PRDX1,PRPF38A,RAB3B,RAD54L,RNF11,RPS15AP10,SCP2,SELRC1,SKINTL,SLC1A7,SLC25A3P1,SLC5A9,SPATA6,STIL,TAL1,TESK2,TMEM48,TMEM59,TMEM69,TOE1,TRABD2B,TSPAN1,TTC39A,TXNDC12,UQCRH,YIPF1,ZCCHC11,ZFYVE9,ZSWIM5,ZYG11A,ZYG11B chr14 55058776 55058834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAMD4A chr14 55079856 55080646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMD4A chr14 55079880 55080640 Gain and loss Pancreatic cancer SNP array 17952125 SAMD4A chr14 55112657 55116545 Gain and loss Pancreatic cancer SNP array 17952125 SAMD4A chr14 55113662 55116581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMD4A chr14 55116677 55221055 Gain or loss Breast cancer - 20668451 SAMD4A chr14 55116677 55221055 Gain or loss Cancer - 20668451 SAMD4A chr14 55116677 55221055 Gain or loss Lung cancer - 20668451 SAMD4A chr14 55116677 55221055 Gain or loss Ovarian cancer - 20668451 SAMD4A chr14 55116677 55221055 Gain or loss Pancreas cancer - 20668451 SAMD4A chr14 55116677 55221055 Gain or loss Prostate cancer - 20668451 SAMD4A chr14 55116678 55221054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAMD4A chr14 55116678 55221054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMD4A chr14 55116786 55221047 Gain and loss Pancreatic cancer SNP array 17952125 SAMD4A chr14 55173625 55243440 Amplification Medulloblastoma Illumina SNP arrays 21163964 SAMD4A chr14 55188005 55188102 Gain and loss Pancreatic cancer SNP array 17952125 SAMD4A chr14 55188005 55188103 Gain and loss Pancreatic cancer SNP array 17952125 SAMD4A chr14 55188005 55188105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMD4A chr14 55189812 55234482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SAMD4A chr1 4552001 4742500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AJAP1 chr14 55207981 55208257 Loss Autism 1M Ailent CGH whole-genome array 21865298 SAMD4A chr14 55243914 55243997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAMD4A chr14 55257289 55257383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAMD4A chr14 55259048 55260775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SAMD4A chr14 55270138 59096642 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTR10,AP5M1,ARID4A,ATG14,C14orf101,C14orf105,C14orf37,DLGAP5,EXOC5,FBXO34,FLJ31306,GCH1,KIAA0586,KTN1,KTN1-AS1,LGALS3,LINC00520,MAPK1IP1L,MIR4308,NAA30,OTX2,OTX2-AS1,PELI2,PSMA3,RPL13AP3,SLC35F4,SOCS4,TBPL2,TIMM9,TOMM20L,WDHD1 chr14 55302716 55304187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 55302716 55304187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 55302716 55304187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 55351907 55351973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCH1 chr1 45536813 46578438 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,CCDC163P,CCDC17,GPBP1L1,HPDL,IPP,LOC400752,MAST2,MMACHC,MUTYH,NASP,PIK3R3,PRDX1,RPS15AP10,TESK2,TMEM69,TOE1,ZSWIM5 chr14 55412140 55412240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDHD1 chr14 55444026 55504734 Copy number Lung cancer paired-end sequencing 18438408 SOCS4,WDHD1 chr14 55449693 55483117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDHD1 chr14 55492220 55492341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDHD1 chr1 45549787 45550093 Gain and loss Pancreatic cancer SNP array 17952125 ZSWIM5 chr14 55498207 55498357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOCS4 chr14 55500000 58100000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 AP5M1,ATG14,C14orf101,C14orf105,DLGAP5,EXOC5,FBXO34,KTN1,KTN1-AS1,LGALS3,LINC00520,MAPK1IP1L,NAA30,OTX2,OTX2-AS1,PELI2,RPL13AP3,SLC35F4,SOCS4,TBPL2 chr14 55524054 58040274 Copy number Lung cancer paired-end sequencing 18438408 AP5M1,ATG14,C14orf101,C14orf105,DLGAP5,EXOC5,FBXO34,KTN1,KTN1-AS1,LGALS3,LINC00520,MAPK1IP1L,NAA30,OTX2,OTX2-AS1,PELI2,RPL13AP3,SLC35F4,TBPL2 chr14 55534685 55535060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK1IP1L chr14 55582739 55582839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 55587850 56079771 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATG14,DLGAP5,FBXO34,KTN1,KTN1-AS1,LGALS3,TBPL2 chr14 55604914 55604998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGALS3 chr14 55611951 55612038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGALS3 chr1 45563758 46676718 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,CCDC163P,CCDC17,GPBP1L1,HPDL,IPP,LOC400752,LURAP1,MAST2,MMACHC,MUTYH,NASP,PIK3R3,POMGNT1,PRDX1,RPS15AP10,TESK2,TMEM69,TOE1,TSPAN1,ZSWIM5 chr1 45565001 45572000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZSWIM5 chr1 45565132 45566934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr1 45565132 45566934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr14 55651903 55652063 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP5 chr14 55651903 55652063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP5 chr14 55654846 55837783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG14,DLGAP5,FBXO34 chr14 55654846 55837783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG14,DLGAP5,FBXO34 chr14 55654956 55837773 Gain and loss Pancreatic cancer SNP array 17952125 ATG14,DLGAP5,FBXO34 chr14 55657232 55657332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP5 chr1 45567500 45578729 Gain or loss Breast cancer - 20668451 ZSWIM5 chr1 45567500 45578729 Gain or loss Cancer - 20668451 ZSWIM5 chr1 45567500 45578729 Gain or loss Lung cancer - 20668451 ZSWIM5 chr1 45567500 45578729 Gain or loss Ovarian cancer - 20668451 ZSWIM5 chr1 45567500 45578729 Gain or loss Pancreas cancer - 20668451 ZSWIM5 chr1 45567500 45578729 Gain or loss Prostate cancer - 20668451 ZSWIM5 chr1 45567501 45578729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr1 45567501 45578729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr14 55776960 61112024 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTR10,AP5M1,ARID4A,ATG14,C14orf101,C14orf105,C14orf37,C14orf39,CCDC175,DAAM1,DACT1,DHRS7,EXOC5,FBXO34,FLJ31306,GPR135,JKAMP,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LINC00520,NAA30,OTX2,OTX2-AS1,PCNXL4,PELI2,PPM1A,PSMA3,RPL13AP3,RTN1,SIX1,SIX6,SLC35F4,TBPL2,TIMM9,TOMM20L chr1 45578512 45582223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr14 55795676 55795861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXO34 chr14 55795740 55795835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXO34 chr14 55795866 55796020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXO34 chr14 55800000 106368585 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,AP5M1,APOPT1,ARG2,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf101,C14orf105,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf37,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FBXO34,FCF1,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,KTN1,KTN1-AS1,L3HYPDH,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NAA30,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,OTX2,OTX2-AS1,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PELI2,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PTGR2,PTPN21,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPL13AP3,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTB,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TNFAIP2,TOMM20L,TRAF3,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 55800000 61200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR10,AP5M1,ARID4A,ATG14,C14orf101,C14orf105,C14orf37,C14orf39,CCDC175,DAAM1,DACT1,DHRS7,EXOC5,FBXO34,FLJ31306,GPR135,JKAMP,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LINC00520,NAA30,OTX2,OTX2-AS1,PCNXL4,PELI2,PPM1A,PSMA3,RPL13AP3,RTN1,SIX1,SIX4,SIX6,SLC35F4,TBPL2,TIMM9,TOMM20L chr14 55800000 61200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR10,AP5M1,ARID4A,ATG14,C14orf101,C14orf105,C14orf37,C14orf39,CCDC175,DAAM1,DACT1,DHRS7,EXOC5,FBXO34,FLJ31306,GPR135,JKAMP,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LINC00520,NAA30,OTX2,OTX2-AS1,PCNXL4,PELI2,PPM1A,PSMA3,RPL13AP3,RTN1,SIX1,SIX4,SIX6,SLC35F4,TBPL2,TIMM9,TOMM20L chr14 55800000 61200000 Duplication Heart disease Illumina 627Quad Beadchip platform 21282601 ACTR10,AP5M1,ARID4A,ATG14,C14orf101,C14orf105,C14orf37,C14orf39,CCDC175,DAAM1,DACT1,DHRS7,EXOC5,FBXO34,FLJ31306,GPR135,JKAMP,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LINC00520,NAA30,OTX2,OTX2-AS1,PCNXL4,PELI2,PPM1A,PSMA3,RPL13AP3,RTN1,SIX1,SIX4,SIX6,SLC35F4,TBPL2,TIMM9,TOMM20L chr14 55800000 61200000 Loss Diffuse large b-cell lymphoma QMPSF assay 18287131 ACTR10,AP5M1,ARID4A,ATG14,C14orf101,C14orf105,C14orf37,C14orf39,CCDC175,DAAM1,DACT1,DHRS7,EXOC5,FBXO34,FLJ31306,GPR135,JKAMP,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LINC00520,NAA30,OTX2,OTX2-AS1,PCNXL4,PELI2,PPM1A,PSMA3,RPL13AP3,RTN1,SIX1,SIX4,SIX6,SLC35F4,TBPL2,TIMM9,TOMM20L chr14 55800000 67000000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACTR10,AKAP5,AP5M1,ARID4A,ATG14,C14orf101,C14orf105,C14orf37,C14orf39,CCDC175,CHURC1,CHURC1-FNTB,DAAM1,DACT1,DHRS7,ESR2,EXOC5,FBXO34,FLJ22447,FLJ31306,FNTB,FUT8,FUT8-AS1,GPHB5,GPHN,GPR135,GPX2,HIF1A,HIF1A-AS2,HSPA2,JKAMP,KCNH5,KIAA0586,KTN1,KTN1-AS1,L3HYPDH,LINC00238,LINC00520,LINC00643,LOC100506321,MAX,MIR4706,MIR4708,MNAT1,MTHFD1,NAA30,OTX2,OTX2-AS1,PCNXL4,PELI2,PLEKHG3,PPM1A,PPP1R36,PPP2R5E,PRKCH,PSMA3,RAB15,RHOJ,RPL13AP3,RTN1,SGPP1,SIX1,SIX4,SIX6,SLC35F4,SLC38A6,SNAPC1,SPTB,SYNE2,SYT16,TBPL2,TEX21P,TIMM9,TMEM30B,TOMM20L,TRMT5,WDR89,ZBTB1,ZBTB25 chr14 55800000 78400000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARG2,ARID4A,ATG14,ATP6V1D,BATF,C14orf1,C14orf101,C14orf105,C14orf162,C14orf166B,C14orf169,C14orf178,C14orf37,C14orf39,CCDC175,CCDC176,CHURC1,CHURC1-FNTB,COQ6,COX16,DAAM1,DACT1,DCAF4,DCAF5,DHRS7,DLST,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM71D,FBXO34,FCF1,FLJ22447,FLJ31306,FLVCR2,FNTB,FOS,FUT8,FUT8-AS1,GALNTL1,GPATCH2L,GPHB5,GPHN,GPR135,GPX2,GSTZ1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,JKAMP,KCNH5,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KTN1,KTN1-AS1,L3HYPDH,LIN52,LINC00238,LINC00520,LINC00643,LOC100289511,LOC100506321,LOC145474,LOC731223,LTBP2,MAP3K9,MAX,MED6,MIR1260A,MIR4505,MIR4706,MIR4708,MIR4709,MLH3,MNAT1,MPP5,MTHFD1,NAA30,NEK9,NGB,NOXRED1,NPC2,NUMB,OTX2,OTX2-AS1,PAPLN,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPM1A,PPP1R36,PPP2R5E,PRKCH,PROX2,PSEN1,PSMA3,PTGR2,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPL13AP3,RPS6KL1,RTN1,SAMD15,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORD56B,SNW1,SPTB,SPTLC2,SRSF5,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM30B,TMEM63C,TOMM20L,TRMT5,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 55800000 78400000 Loss Splenic marginal zone lymphoma 44k aCGH 18492102 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,AP5M1,ARG2,ARID4A,ATG14,ATP6V1D,BATF,C14orf1,C14orf101,C14orf105,C14orf162,C14orf166B,C14orf169,C14orf178,C14orf37,C14orf39,CCDC175,CCDC176,CHURC1,CHURC1-FNTB,COQ6,COX16,DAAM1,DACT1,DCAF4,DCAF5,DHRS7,DLST,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM71D,FBXO34,FCF1,FLJ22447,FLJ31306,FLVCR2,FNTB,FOS,FUT8,FUT8-AS1,GALNTL1,GPATCH2L,GPHB5,GPHN,GPR135,GPX2,GSTZ1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,JKAMP,KCNH5,KIAA0247,KIAA0317,KIAA0586,KIAA1737,KTN1,KTN1-AS1,L3HYPDH,LIN52,LINC00238,LINC00520,LINC00643,LOC100289511,LOC100506321,LOC145474,LOC731223,LTBP2,MAP3K9,MAX,MED6,MIR1260A,MIR4505,MIR4706,MIR4708,MIR4709,MLH3,MNAT1,MPP5,MTHFD1,NAA30,NEK9,NGB,NOXRED1,NPC2,NUMB,OTX2,OTX2-AS1,PAPLN,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPM1A,PPP1R36,PPP2R5E,PRKCH,PROX2,PSEN1,PSMA3,PTGR2,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPL13AP3,RPS6KL1,RTN1,SAMD15,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORD56B,SNW1,SPTB,SPTLC2,SRSF5,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEX21P,TGFB3,TIMM9,TMED10,TMED8,TMEM229B,TMEM30B,TMEM63C,TOMM20L,TRMT5,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr1 45582142 45729427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr1 45582142 45729427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr14 55836314 55836414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATG14 chr14 55922905 55967610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 55931334 55951248 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 55946156 55957238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 55957690 56626651 Amplification Medulloblastoma Illumina SNP arrays 21163964 KTN1,KTN1-AS1,LINC00520,PELI2,RPL13AP3 chr1 45596913 45597006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr14 55978145 56504053 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KTN1,KTN1-AS1,LINC00520,RPL13AP3 chr1 45603586 45603670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZSWIM5 chr1 45606989 46307302 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-296K arrays 21546498 AKR1A1,CCDC163P,CCDC17,GPBP1L1,HPDL,IPP,LOC400752,MAST2,MMACHC,MUTYH,NASP,PRDX1,RPS15AP10,TESK2,TMEM69,TOE1,ZSWIM5 chr14 56079895 56079988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KTN1 chr14 56116090 56185985 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 KTN1 chr14 56116264 56184755 Gain and loss Pancreatic cancer SNP array 17952125 KTN1 chr14 56116264 56185983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KTN1 chr14 56116264 56185983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KTN1 chr14 56116264 56185983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KTN1 chr14 56245536 56245636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56271070 56271170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56284434 56469542 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr14 56330501 56332000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 56337177 56346937 Microdeletions ocular or pituitary abnormalities Multiplex ligation-dependent probe amplification (MLPA) 19965921 NOT_FOUND chr14 56337178 56346940 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 56337180 56346940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 56337182 56346940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 56337182 56346940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 45635086 45645830 Gain and loss Pancreatic cancer SNP array 17952125 ZSWIM5 chr14 56360845 56361127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 56360855 56361127 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 56360855 56361127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 56361457 56361563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 56361457 56361563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 56361461 56361563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 56365693 56411420 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 56437439 56437528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56437713 56437927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56437817 56437927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56437911 56438037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56437915 56438155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45645801 45656702 Gain and loss Pancreatic cancer SNP array 17952125 ZSWIM5 chr14 56493134 56493229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56514880 56516092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 56514880 56516092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 45653279 45653603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM5 chr14 56577356 56578275 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 56579340 56579440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56606435 56606673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELI2 chr14 56606578 56606678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELI2 chr14 56606699 56606881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELI2 chr14 56636514 56642719 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PELI2 chr14 56643620 56643720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELI2 chr14 56681453 56681522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELI2 chr14 56706545 57597268 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C14orf101,OTX2,OTX2-AS1,PELI2 chr14 56706545 59687449 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR10,AP5M1,ARID4A,C14orf101,C14orf105,C14orf37,DAAM1,DACT1,EXOC5,FLJ31306,KIAA0586,NAA30,OTX2,OTX2-AS1,PELI2,PSMA3,SLC35F4,TIMM9,TOMM20L chr14 56725151 56725251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELI2 chr14 56738954 56805370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PELI2 chr14 56738954 56805370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PELI2 chr14 56739868 56805376 Gain and loss Pancreatic cancer SNP array 17952125 PELI2 chr14 56740271 56742529 Gain and loss Pancreatic cancer SNP array 17952125 PELI2 chr14 56741641 56743044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PELI2 chr14 56805380 56826544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 56805380 56826544 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 56805380 56826544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 56852734 56852804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45685591 45704813 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 45687293 45687393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56896815 56896896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 56927024 56947636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 56927024 56947636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 56927024 56947636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 56937991 56938395 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 57006348 57030323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57006348 57030323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 57006348 57030323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57035222 57035322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 57072532 57072632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C14orf101 chr14 57100606 57133368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf101 chr14 57100606 57133368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf101 chr14 57100606 57402296 Gain and loss Pancreatic cancer SNP array 17952125 C14orf101,OTX2,OTX2-AS1 chr14 57115782 57127001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C14orf101 chr1 45718810 45753660 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 57216375 57280075 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 OTX2,OTX2-AS1 chr14 57273099 57273199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTX2 chr14 57324761 57324911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTX2-AS1 chr14 57373915 57374129 Gain and loss Pancreatic cancer SNP array 17952125 OTX2-AS1 chr14 57373915 57374129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTX2-AS1 chr1 45738312 45749326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 45738312 45749326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57473112 58521430 LOH Normal High-resolution SNP genotyping 21211785 AP5M1,C14orf105,C14orf37,EXOC5,NAA30,SLC35F4 chr1 45749295 45760196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 45749295 45760196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57502275 57502375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 57507871 57507974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 57515665 57515765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 57515822 57521959 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 57540527 57688684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOC5 chr14 57540527 57688684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC5 chr14 57540561 57688654 Gain and loss Pancreatic cancer SNP array 17952125 EXOC5 chr14 57540572 57688600 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EXOC5 chr1 45755407 45758766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 45756075 45756168 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 45761828 45761982 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 45762078 45821374 Gain and loss Pancreatic cancer SNP array 17952125 HPDL,LOC400752,MUTYH,TESK2,TOE1 chr1 4576349 4576428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 4576357 4576501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 45769186 45770398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC400752 chr14 57716242 57716532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC5 chr14 57716242 57716533 Gain and loss Pancreatic cancer SNP array 17952125 EXOC5 chr14 57716242 57716533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC5 chr14 57735172 57735224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC5 chr14 57736586 57772104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AP5M1 chr14 57736586 57772104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP5M1 chr14 57736586 57772104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP5M1 chr14 57736609 57771273 Gain and loss Pancreatic cancer SNP array 17952125 AP5M1 chr14 57744349 57744449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AP5M1 chr14 57761016 57762480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 57781346 57808477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57781346 57808477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 57781346 57808477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57801837 57834600 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 57811740 57812664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57821241 57821872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57821244 57821782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 57824504 57825618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 57828768 57828858 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 57828768 57828858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57834527 57835000 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 57834975 57910201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAA30 chr14 57834975 57910201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAA30 chr14 57835116 57909391 Gain and loss Pancreatic cancer SNP array 17952125 NAA30 chr14 57840543 57840643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45785138 46705339 LOH Normal High-resolution SNP genotyping 21211785 AKR1A1,CCDC163P,CCDC17,GPBP1L1,HPDL,IPP,LURAP1,MAST2,MMACHC,MUTYH,NASP,PIK3R3,POMGNT1,PRDX1,RPS15AP10,TESK2,TMEM69,TOE1,TSPAN1 chr1 45789085 45808307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPDL,MUTYH,TOE1 chr1 45789085 45808307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPDL,MUTYH,TOE1 chr14 57897140 57897217 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 57897140 57897217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 57932386 57945172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf105 chr14 57932386 57945172 Gain and loss Pancreatic cancer SNP array 17952125 C14orf105 chr14 57932386 57945172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf105 chr14 57944967 57963985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf105 chr14 57944967 57963985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf105 chr14 57945121 57963971 Gain and loss Pancreatic cancer SNP array 17952125 C14orf105 chr14 57963351 58085299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC35F4 chr14 57963351 58085299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F4 chr14 57963873 58084591 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F4 chr14 57964330 58884793 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR10,ARID4A,C14orf37,FLJ31306,PSMA3,SLC35F4,TIMM9,TOMM20L chr14 57978039 57978115 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 58031294 58031394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F4 chr14 58056234 58308216 Copy number Lung cancer paired-end sequencing 18438408 SLC35F4 chr14 58057694 58058462 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F4 chr14 58073931 58074031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F4 chr14 58100000 67900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACTR10,AKAP5,ARID4A,ATP6V1D,C14orf37,C14orf39,CCDC175,CHURC1,CHURC1-FNTB,DAAM1,DACT1,DHRS7,EIF2S1,ESR2,FAM71D,FLJ22447,FLJ31306,FNTB,FUT8,FUT8-AS1,GPHB5,GPHN,GPR135,GPX2,HIF1A,HIF1A-AS2,HSPA2,JKAMP,KCNH5,KIAA0586,L3HYPDH,LINC00238,LINC00643,LOC100506321,MAX,MIR4706,MIR4708,MNAT1,MPP5,MTHFD1,PCNXL4,PLEK2,PLEKHG3,PPM1A,PPP1R36,PPP2R5E,PRKCH,PSMA3,RAB15,RHOJ,RTN1,SGPP1,SIX1,SIX4,SIX6,SLC35F4,SLC38A6,SNAPC1,SPTB,SYNE2,SYT16,TEX21P,TIMM9,TMEM30B,TOMM20L,TRMT5,WDR89,ZBTB1,ZBTB25 chr14 58100000 73800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACTN1,ACTR10,ADAM20,ADAM20P1,ADAM21,ADAM21P1,AKAP5,ARG2,ARID4A,ATP6V1D,C14orf162,C14orf37,C14orf39,CCDC175,CHURC1,CHURC1-FNTB,COX16,DAAM1,DACT1,DCAF4,DCAF5,DHRS7,DPF3,EIF2S1,ERH,ESR2,EXD2,FAM71D,FLJ22447,FLJ31306,FNTB,FUT8,FUT8-AS1,GALNTL1,GPHB5,GPHN,GPR135,GPX2,HIF1A,HIF1A-AS2,HSPA2,JKAMP,KCNH5,KIAA0247,KIAA0586,L3HYPDH,LINC00238,LINC00643,LOC100289511,LOC100506321,LOC145474,MAP3K9,MAX,MED6,MIR4706,MIR4708,MNAT1,MPP5,MTHFD1,NUMB,PAPLN,PCNX,PCNXL4,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PPM1A,PPP1R36,PPP2R5E,PRKCH,PSEN1,PSMA3,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RTN1,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC35F4,SLC38A6,SLC39A9,SLC8A3,SMOC1,SNAPC1,SNORD56B,SPTB,SRSF5,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TEX21P,TIMM9,TMEM229B,TMEM30B,TOMM20L,TRMT5,TTC9,VTI1B,WDR89,ZBTB1,ZBTB25,ZFP36L1,ZFYVE1,ZFYVE26 chr14 58107767 58107862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F4 chr14 58107872 58108063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F4 chr14 58123582 58123682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F4 chr14 58170555 58184792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC35F4 chr14 58170555 58184792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F4 chr14 58174612 58184789 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F4 chr1 45817942 45818032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TESK2 chr1 45821979 45829203 Gain and loss Pancreatic cancer SNP array 17952125 TESK2 chr1 45822304 45857145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr1 45822304 45857145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr14 58229435 58255202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC35F4 chr14 58231901 58231933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F4 chr14 58265492 58309053 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 SLC35F4 chr14 58277738 58277838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35F4 chr14 58282348 58315605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC35F4 chr14 58283534 58292179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC35F4 chr14 58286317 58305536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC35F4 chr14 58289219 58303424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC35F4 chr1 45829183 45924103 Gain and loss Pancreatic cancer SNP array 17952125 TESK2 chr14 58307623 58307717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F4 chr14 58323214 69158216 Copy number Lung cancer paired-end sequencing 18438408 ACTR10,AKAP5,ARG2,ARID4A,ATP6V1D,C14orf37,C14orf39,CCDC175,CHURC1,CHURC1-FNTB,DAAM1,DACT1,DHRS7,EIF2S1,ESR2,FAM71D,FLJ22447,FLJ31306,FNTB,FUT8,FUT8-AS1,GPHB5,GPHN,GPR135,GPX2,HIF1A,HIF1A-AS2,HSPA2,JKAMP,KCNH5,KIAA0586,L3HYPDH,LINC00238,LINC00643,LOC100506321,MAX,MIR4706,MIR4708,MNAT1,MPP5,MTHFD1,PCNXL4,PIGH,PLEK2,PLEKHG3,PLEKHH1,PPM1A,PPP1R36,PPP2R5E,PRKCH,PSMA3,RAB15,RAD51B,RDH11,RDH12,RHOJ,RTN1,SGPP1,SIX1,SIX4,SIX6,SLC35F4,SLC38A6,SNAPC1,SPTB,SYNE2,SYT16,TEX21P,TIMM9,TMEM229B,TMEM30B,TOMM20L,TRMT5,VTI1B,WDR89,ZBTB1,ZBTB25,ZFYVE26 chr14 58331125 58331500 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F4 chr14 58331125 58331500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F4 chr14 58364150 58364826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 58364150 58364826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 58428424 58428524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 58464610 58464684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 58466751 58467343 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 58493045 58493115 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C14orf37 chr14 58551001 58552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf37 chr1 45858304 45862260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr1 45858304 45862260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr14 58594597 58594760 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C14orf37 chr14 58604355 58618521 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf37 chr14 58613001 58617100 Deletion Glioma mate-paired sequence 20126413 C14orf37 chr14 58615052 58615358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C14orf37 chr1 45865563 45924795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr1 45865563 45924795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr1 45865567 45924868 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TESK2 chr14 58671957 58672820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR10 chr14 58671957 58672829 Gain and loss Pancreatic cancer SNP array 17952125 ACTR10 chr14 58681498 106175506 Gain and loss Barrett's syndrome BAC array 19417022 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ARG2,ARID4A,ASB2,ASPG,ATG2B,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf39,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DAAM1,DACT1,DCAF4,DCAF5,DDX24,DEGS2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESR2,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FCF1,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR135,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,JKAMP,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA0586,KIAA1737,KIF26A,KLC1,L3HYPDH,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MNAT1,MOAP1,MOK,MPP5,MTA1,MTHFD1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PCNXL4,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPM1A,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMA3,PSMC1,PTGR2,PTPN21,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,RTN1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SIX1,SIX4,SIX6,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTB,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TIMM9,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM30B,TMEM63C,TNFAIP2,TOMM20L,TRAF3,TRIP11,TRMT5,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 58723558 59361318 LOH Normal High-resolution SNP genotyping 21211785 ARID4A,DACT1,FLJ31306,KIAA0586,PSMA3,TIMM9,TOMM20L chr14 58724501 58726000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PSMA3 chr14 58725151 58906224 Gain and loss Pancreatic cancer SNP array 17952125 ARID4A,FLJ31306,KIAA0586,PSMA3,TIMM9,TOMM20L chr14 58725152 58907876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID4A,FLJ31306,KIAA0586,PSMA3,TIMM9,TOMM20L chr14 58725152 58907876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID4A,FLJ31306,KIAA0586,PSMA3,TIMM9,TOMM20L chr1 45884075 45884456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr14 58841770 58841870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45889298 45890085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr14 58912691 60725264 LOH Normal High-resolution SNP genotyping 21211785 CCDC175,DAAM1,DACT1,DHRS7,GPR135,JKAMP,KIAA0586,L3HYPDH,PCNXL4,PPM1A,RTN1 chr14 58951601 58955700 Deletion Glioma mate-paired sequence 20126413 KIAA0586 chr14 58953637 58953766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA0586 chr14 58953640 58953986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA0586 chr14 58965493 59001813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0586 chr14 58965493 59001813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0586 chr14 58974755 59757046 LOH Normal High-resolution SNP genotyping 21211785 DAAM1,DACT1,KIAA0586 chr14 59000213 59001697 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0586 chr14 59000501 59002000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0586 chr14 59009159 59020826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0586 chr14 59009159 59020826 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0586 chr14 59009159 59020826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0586 chr14 59020914 59041834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 59020914 59041834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 59020979 59041187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 59046901 59113246 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DACT1 chr14 59046901 59113246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACT1 chr14 59055897 59820118 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DAAM1,DACT1 chr14 59079814 59113246 Gain and loss Pancreatic cancer SNP array 17952125 DACT1 chr14 59115293 59116165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 59132447 59407310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 59132447 59407310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 59132447 59407310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 59138607 59687449 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DAAM1 chr14 59210714 59758012 LOH Normal High-resolution SNP genotyping 21211785 DAAM1 chr14 59220169 59220402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 59220294 59220397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 59247098 60662260 LOH Normal High-resolution SNP genotyping 21211785 CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,PCNXL4,RTN1 chr14 59249087 59249187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 59256705 59256919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45926434 45932685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr1 45926434 45932685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr14 59284472 61286479 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.16 20877625 C14orf39,CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,MNAT1,PCNXL4,PPM1A,RTN1,SIX1,SIX4,SIX6 chr14 59311273 59343848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 45932583 45988909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC163P,MMACHC,PRDX1,TESK2 chr1 45932583 45988909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC163P,MMACHC,PRDX1,TESK2 chr14 59330563 60663740 LOH Normal High-resolution SNP genotyping 21211785 CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,PCNXL4,RTN1 chr1 45937379 45937453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TESK2 chr14 59376834 59376934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45938938 45943778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TESK2 chr14 59391305 61545481 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C14orf39,CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,MNAT1,PCNXL4,PPM1A,RTN1,SIX1,SIX4,SIX6,SLC38A6,TRMT5 chr14 59399051 59399151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 59411151 59412994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 59453522 66287274 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 AKAP5,C14orf39,CCDC175,CHURC1,CHURC1-FNTB,DAAM1,DHRS7,ESR2,FLJ22447,FNTB,FUT8,FUT8-AS1,GPHB5,GPR135,GPX2,HIF1A,HIF1A-AS2,HSPA2,JKAMP,KCNH5,L3HYPDH,LINC00643,LOC100506321,MAX,MIR4706,MIR4708,MNAT1,MTHFD1,PCNXL4,PLEKHG3,PPM1A,PPP1R36,PPP2R5E,PRKCH,RAB15,RHOJ,RTN1,SGPP1,SIX1,SIX4,SIX6,SLC38A6,SNAPC1,SPTB,SYNE2,SYT16,TEX21P,TMEM30B,TRMT5,WDR89,ZBTB1,ZBTB25 chr14 59456184 59600030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 59456184 59600030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 59456184 59600030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 59477247 59652794 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 59484524 60723424 LOH Normal High-resolution SNP genotyping 21211785 CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,PCNXL4,PPM1A,RTN1 chr1 45961845 46180619 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AKR1A1,CCDC163P,CCDC17,GPBP1L1,IPP,MMACHC,NASP,PRDX1,RPS15AP10,TMEM69 chr14 59623402 59623502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 59628382 59705604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAAM1 chr14 59628382 59705604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAAM1 chr14 59629119 60612239 LOH Normal High-resolution SNP genotyping 21211785 CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,PCNXL4,RTN1 chr14 59644055 59645252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 59652411 59671280 Gain and loss Pancreatic cancer SNP array 17952125 DAAM1 chr14 59681255 59701900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAAM1 chr14 59681255 59701900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAAM1 chr14 59681255 59706330 Gain and loss Pancreatic cancer SNP array 17952125 DAAM1 chr14 59695263 59728072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAAM1 chr14 59748140 59748240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAAM1 chr14 59749012 60771063 LOH Normal High-resolution SNP genotyping 21211785 CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,PCNXL4,PPM1A,RTN1 chr14 59755388 60771063 LOH Normal High-resolution SNP genotyping 21211785 CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,PCNXL4,PPM1A,RTN1 chr14 59758012 60683876 LOH Normal High-resolution SNP genotyping 21211785 CCDC175,DAAM1,DHRS7,GPR135,JKAMP,L3HYPDH,PCNXL4,RTN1 chr14 59782223 59829813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAAM1 chr14 59782223 59829813 Gain and loss Pancreatic cancer SNP array 17952125 DAAM1 chr14 59782223 59829813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAAM1 chr1 45979874 45980185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRDX1 chr1 45981305 46213816 Gain and loss Pancreatic cancer SNP array 17952125 AKR1A1,CCDC17,GPBP1L1,IPP,NASP,PRDX1,RPS15AP10,TMEM69 chr14 59850182 60072741 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC175,GPR135,JKAMP,L3HYPDH,RTN1 chr14 59850182 60893979 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC175,DHRS7,GPR135,JKAMP,L3HYPDH,PCNXL4,PPM1A,RTN1 chr14 59865374 59880957 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr14 59866062 59866162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 59891316 59891416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 45989438 120349262 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,ADORA3,AGBL4,AGL,AHCYL1,AK4,AK5,AKNAD1,AKR1A1,AKR7A2P1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATG4C,ATP1A1,ATP1A1OS,ATP5F1,ATPAF1,ATPAF1-AS1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BRDT,BSND,BTBD8,BTF3L4,C1orf123,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf52,C1orf87,C1orf88,C8A,C8B,CACHD1,CAPZA1,CASQ2,CC2D1B,CCBL2,CCDC17,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CDCP2,CDKN2C,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CMPK1,CNN3,COL11A1,COL24A1,CPT2,CRYZ,CSDE1,CSF1,CTBS,CTH,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ECHDC2,EFCAB7,ELAVL4,ELTD1,EPHX4,EPS15,EPS8L3,EVI5,EXTL2,F3,FAAH,FAF1,FAM102B,FAM151A,FAM159A,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FAM73A,FGGY,FLJ27354,FLJ31662,FNBP1L,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GLIS1,GLMN,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GPBP1L1,GPR61,GPR88,GPSM2,GPX7,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HEATR8,HEATR8-TTC4,HENMT1,HFM1,HHLA3,HIAT1,HIPK1,HMGCS2,HOOK1,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,IFI44,IFI44L,IGSF3,IL12RB2,IL23R,INADL,INSL5,IPP,ITGB3BP,JAK1,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA0494,KIAA0494-AS1,KIAA1107,KIAA1324,KNCN,KTI12,L1TD1,LAMTOR5,LDLRAD1,LEPR,LEPROT,LHX8,LINC00466,LINC00622,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131060,LOC100131564,LOC100505768,LOC100506343,LOC100507564,LOC100507634,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729041,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LURAP1,MAB21L3,MAGI3,MAGOH,MAN1A2,MAST2,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR3117,MIR320B1,MIR3671,MIR4256,MIR4422,MIR4423,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MOB3C,MOV10,MRPL37,MSH4,MTF2,MYBPHL,MYSM1,NASP,NBPF4,NBPF6,NEGR1,NEGR1-IT1,NEXN,NFIA,NGF,NHLH2,NRAS,NRD1,NSUN4,NTNG1,ODF2L,OLFM3,OLFML3,OMA1,ORC1,OSBPL9,OVGP1,PALMD,PARS2,PCSK9,PDE4B,PDZK1IP1,PDZK1IP1-AS1,PGCP1,PGM1,PHGDH,PHTF1,PIGK,PIK3R3,PIN1P1,PKN2,PODN,POMGNT1,PPAP2B,PPM1J,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTPN22,RAB3B,RABGGTB,RAD54L,RAP1A,RAVER2,RBM15,RBMXL1,REG4,RHOC,RNF11,RNPC3,RNU6-6,ROR1,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL5,RPS15AP10,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SCP2,SELRC1,SEP15,SERBP1,SGIP1,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC5A9,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SPAG17,SPATA6,SRG7,SRSF11,SSBP3,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TACSTD2,TAF13,TAL1,TBX15,TCEANC2,TCTEX1D1,TGFBR3,TM2D1,TMED5,TMEM167B,TMEM48,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM69,TNNI3K,TRABD2B,TRIM33,TRIM45,TRMT13,TSHB,TSPAN1,TSPAN2,TTC22,TTC39A,TTC4,TTF2,TTLL7,TXNDC12,TYW3,UBE2U,UBL4B,UOX,UQCRH,USP1,USP24,USP33,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR77,WDR78,WLS,WNT2B,YIPF1,ZCCHC11,ZFYVE9,ZNF326,ZNF644,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZYG11A,ZYG11B,ZZZ3 chr1 45993630 45993711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 59937072 59937172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 59948897 59993954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC175,JKAMP,L3HYPDH chr14 59972428 60022567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC175 chr14 59972428 60022567 Gain and loss Pancreatic cancer SNP array 17952125 CCDC175 chr14 59972428 60022567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC175 chr14 59978859 59978944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC175 chr14 59999560 59999652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC175 chr14 60021283 60021461 Gain Autism 1M Ailent CGH whole-genome array 21865298 CCDC175 chr14 60038371 60038471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC175 chr14 60045622 60048282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 60045622 60048282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 60045691 60048276 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 46007193 46007244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 60076464 60076564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTN1 chr14 60082909 60082982 Gain and loss Pancreatic cancer SNP array 17952125 RTN1 chr14 60082909 60082982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN1 chr14 60127809 60129232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RTN1 chr14 60136509 60136609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTN1 chr14 60181169 60185908 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 RTN1 chr14 60182447 60183059 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RTN1 chr14 60182506 60185933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN1 chr14 60182506 60185933 Gain and loss Pancreatic cancer SNP array 17952125 RTN1 chr14 60182506 60185933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN1 chr14 60185591 60230447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RTN1 chr1 46019536 46020216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKR1A1 chr14 60246008 60260792 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 RTN1 chr14 60246008 60260792 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RTN1 chr14 60246009 60260545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN1 chr14 60246009 60260545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN1 chr14 60249878 60260482 Gain and loss Pancreatic cancer SNP array 17952125 RTN1 chr14 60271222 60505151 Gain or loss Breast cancer - 20668451 RTN1 chr14 60271222 60505151 Gain or loss Cancer - 20668451 RTN1 chr14 60271222 60505151 Gain or loss Lung cancer - 20668451 RTN1 chr14 60271222 60505151 Gain or loss Ovarian cancer - 20668451 RTN1 chr14 60271222 60505151 Gain or loss Pancreas cancer - 20668451 RTN1 chr14 60271222 60505151 Gain or loss Prostate cancer - 20668451 RTN1 chr14 60271223 60505149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN1 chr14 60271223 60505149 Gain and loss Pancreatic cancer SNP array 17952125 RTN1 chr14 60271223 60505149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN1 chr14 60316449 60316839 Gain and loss Pancreatic cancer SNP array 17952125 RTN1 chr14 60316449 60316839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN1 chr14 60316528 60316628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTN1 chr1 46034716 46104010 Gain Normal Birdsuite, version 1.5.2 22087296 AKR1A1,CCDC17,GPBP1L1,NASP chr1 46041872 46274383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC17,GPBP1L1,IPP,MAST2,NASP,RPS15AP10,TMEM69 chr1 46041872 46274383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC17,GPBP1L1,IPP,MAST2,NASP,RPS15AP10,TMEM69 chr14 60421510 60494184 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 60453971 60454172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 60454041 60454162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 60454154 60454286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 60454156 60454365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 60455710 60456567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46049188 46049261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 60507919 60517535 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr14 60507922 60517528 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 60508716 60508937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 60510798 60510903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 60510798 60510906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 60511484 60517521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 60517633 60620183 Gain and loss Pancreatic cancer SNP array 17952125 DHRS7,PCNXL4 chr14 60517633 60620199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHRS7,PCNXL4 chr14 60517633 60620199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS7,PCNXL4 chr14 60575504 60575604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNXL4 chr14 60575504 60575727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNXL4 chr14 60707472 60741369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPM1A chr14 60748964 61290357 LOH Normal High-resolution SNP genotyping 21211785 C14orf39,MNAT1,PPM1A,SIX1,SIX4,SIX6 chr14 60775515 60775615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 60778846 62260847 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C14orf39,FLJ22447,HIF1A,HIF1A-AS2,MNAT1,PRKCH,SIX1,SIX4,SIX6,SLC38A6,SNAPC1,TMEM30B,TRMT5 chr14 60812090 60844087 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 60814152 60817712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 60814159 60817712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 60814159 60817712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 60848668 90748299 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,ARG2,ATP6V1D,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,C14orf178,C14orf39,CCDC176,CEP128,CHURC1,CHURC1-FNTB,COQ6,COX16,DCAF4,DCAF5,DIO2,DIO2-AS1,DLST,DNAL1,DPF3,EFCAB11,EIF2B2,EIF2S1,ELMSAN1,EML5,ENTPD5,ERH,ESR2,ESRRB,EXD2,FAM161B,FAM71D,FCF1,FLJ22447,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GPATCH2L,GPHB5,GPHN,GPR65,GPX2,GSTZ1,GTF2A1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA1737,LIN52,LINC00238,LINC00643,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MAX,MED6,MIR1260A,MIR4505,MIR4706,MIR4708,MIR4709,MLH3,MNAT1,MPP5,MTHFD1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,PAPLN,PCNX,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPP1R36,PPP2R5E,PRKCH,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SEL1L,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORA79,SNORD56B,SNW1,SPATA7,SPTB,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TDP1,TEX21P,TGFB3,TMED10,TMED8,TMEM229B,TMEM30B,TMEM63C,TRMT5,TSHR,TTC8,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr1 46085251 46085867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC17 chr14 60858186 61087443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf39,SIX6 chr14 60858186 61087443 Gain and loss Pancreatic cancer SNP array 17952125 C14orf39,SIX6 chr14 60858186 61087443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf39,SIX6 chr14 60901608 60922424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C14orf39 chr14 60901611 60909131 Gain Normal Birdsuite, version 1.5.2 22087296 C14orf39 chr1 46100000 50100000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 AGBL4,ATPAF1,ATPAF1-AS1,BEND5,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,FAAH,FOXD2,FOXD2-AS1,FOXE3,GPBP1L1,IPP,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,POMGNT1,RAD54L,RPS15AP10,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TMEM69,TRABD2B,TSPAN1,UQCRH chr14 61002462 61002538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 61034315 61034409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 61051109 63179194 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ22447,HIF1A,HIF1A-AS2,KCNH5,LINC00643,MNAT1,PRKCH,SIX1,SIX4,SLC38A6,SNAPC1,SYT16,TMEM30B,TRMT5 chr14 61077818 91107749 Indels Normal Affymetrix and Illumina arrays 20811451 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,ARG2,ATP6V1D,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,C14orf178,CALM1,CCDC176,CEP128,CHURC1,CHURC1-FNTB,COQ6,COX16,DCAF4,DCAF5,DIO2,DIO2-AS1,DLST,DNAL1,DPF3,EFCAB11,EIF2B2,EIF2S1,ELMSAN1,EML5,ENTPD5,ERH,ESR2,ESRRB,EXD2,FAM161B,FAM71D,FCF1,FLJ22447,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GPATCH2L,GPHB5,GPHN,GPR65,GPX2,GSTZ1,GTF2A1,HEATR4,HIF1A,HIF1A-AS2,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA1737,LIN52,LINC00238,LINC00642,LINC00643,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MAX,MED6,MIR1260A,MIR4505,MIR4706,MIR4708,MIR4709,MLH3,MNAT1,MPP5,MTHFD1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,PAPLN,PCNX,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPP1R36,PPP2R5E,PRKCH,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SEL1L,SGPP1,SIPA1L1,SIX1,SIX4,SLC10A1,SLC38A6,SLC39A9,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORA79,SNORD56B,SNW1,SPATA7,SPTB,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TDP1,TEX21P,TGFB3,TMED10,TMED8,TMEM229B,TMEM30B,TMEM63C,TRMT5,TSHR,TTC7B,TTC8,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 61125810 61125900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 61158879 61158979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 61200000 64000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FLJ22447,GPHB5,HIF1A,HIF1A-AS2,KCNH5,LINC00643,MNAT1,PPP2R5E,PRKCH,RHOJ,SLC38A6,SNAPC1,SYT16,TMEM30B,TRMT5 chr14 61200000 64000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FLJ22447,GPHB5,HIF1A,HIF1A-AS2,KCNH5,LINC00643,MNAT1,PPP2R5E,PRKCH,RHOJ,SLC38A6,SNAPC1,SYT16,TMEM30B,TRMT5 chr14 61200000 64000000 Gain Non-small cell lung cancer dChip 21829676 FLJ22447,GPHB5,HIF1A,HIF1A-AS2,KCNH5,LINC00643,MNAT1,PPP2R5E,PRKCH,RHOJ,SLC38A6,SNAPC1,SYT16,TMEM30B,TRMT5 chr14 61231992 61284729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MNAT1 chr14 61231992 61284729 Gain and loss Pancreatic cancer SNP array 17952125 MNAT1 chr14 61231992 61284729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MNAT1 chr14 61274257 61318961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MNAT1 chr14 61291787 61291944 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MNAT1 chr14 61298920 61332898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MNAT1 chr14 61298920 61332898 Gain and loss Pancreatic cancer SNP array 17952125 MNAT1 chr14 61298920 61332898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MNAT1 chr14 61320316 61354694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MNAT1 chr14 61333052 61333152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MNAT1 chr14 61346972 61347072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MNAT1 chr14 61354579 61399295 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MNAT1 chr14 61368332 61368840 Gain and loss Pancreatic cancer SNP array 17952125 MNAT1 chr1 46138695 46139023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPBP1L1 chr14 61400681 61402019 Gain and loss Pancreatic cancer SNP array 17952125 MNAT1 chr14 61401469 61402019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MNAT1 chr14 61444712 61444812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRMT5 chr1 4614965 4743711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AJAP1 chr1 4614965 4743711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AJAP1 chr14 61518726 61553465 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC38A6 chr14 61529434 61529494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC38A6 chr14 61532293 61638180 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SLC38A6 chr14 61532294 61638177 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A6 chr14 61532294 61638180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC38A6 chr14 61532294 61638180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A6 chr14 61534767 61534867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC38A6 chr14 61566568 61566702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 46159501 46161500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IPP,TMEM69 chr14 61653950 61666105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 61653950 61666105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 61653950 61666105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46167127 46183244 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IPP chr14 61689397 61689497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 61691237 61691321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 61861165 61861238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCH chr14 61861172 61861246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCH chr14 61886292 106278173 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ARG2,ASB2,ASPG,ATG2B,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESR2,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FCF1,FLJ22447,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR132,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HIF1A,HIF1A-AS2,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNH5,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LINC00643,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MPP5,MTA1,MTHFD1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPP1R13B,PPP1R36,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RHOJ,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTB,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 61962988 61963088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCH chr14 61976991 61977078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCH chr1 46200000 48900000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ATPAF1,ATPAF1-AS1,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,FAAH,FOXD2,FOXD2-AS1,FOXE3,IPP,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,POMGNT1,RAD54L,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TRABD2B,TSPAN1,UQCRH chr14 62014350 62014424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCH chr14 62050474 62050559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ22447 chr14 62100000 64800000 Gain Leukemia RQ-PCR 18688285 ESR2,FLJ22447,GPHB5,HIF1A,HIF1A-AS2,KCNH5,LINC00643,PPP2R5E,RHOJ,SGPP1,SNAPC1,SYNE2,SYT16,WDR89 chr14 62167852 62167952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIF1A chr1 46217834 46310487 Gain and loss Pancreatic cancer SNP array 17952125 MAST2 chr14 62212942 62213006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIF1A chr14 62243052 62638337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00643,SNAPC1,SYT16 chr14 62243052 62638337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00643,SNAPC1,SYT16 chr14 62243700 62638337 Gain and loss Pancreatic cancer SNP array 17952125 LINC00643,SNAPC1,SYT16 chr14 62287693 62287905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 62287808 62287886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 62332278 62616058 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LINC00643,SYT16 chr14 62351416 62351516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 46235468 47413628 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATPAF1,ATPAF1-AS1,CYP4A11,CYP4B1,CYP4Z2P,DMBX1,FAAH,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PIK3R3,POMGNT1,RAD54L,TSPAN1,UQCRH chr14 62403592 62403692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 62452199 62452279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 62468691 62468791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT16 chr14 62496011 63322627 LOH Normal High-resolution SNP genotyping 21211785 KCNH5,LINC00643,SYT16 chr14 62517849 63322627 LOH Normal High-resolution SNP genotyping 21211785 KCNH5,LINC00643,SYT16 chr14 62521745 64201783 LOH Normal High-resolution SNP genotyping 21211785 GPHB5,KCNH5,LINC00643,PPP2R5E,RHOJ,SGPP1,SYT16,WDR89 chr1 4625478 4754223 Gain and loss Pancreatic cancer SNP array 17952125 AJAP1 chr14 62571581 62864064 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LINC00643 chr14 62571581 62864064 Copy number gain Normal High-resolution SNP genotyping 21211785 LINC00643 chr14 62571581 62872156 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LINC00643 chr14 62571581 62879031 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LINC00643 chr14 62571581 62882179 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LINC00643 chr14 62572618 63604388 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KCNH5,LINC00643 chr14 62573403 62878437 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00643 chr14 62576976 62872156 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LINC00643 chr14 62576976 62872156 Copy number gain Normal High-resolution SNP genotyping 21211785 LINC00643 chr14 62583733 62583800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 46259501 46268500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 462640 463608 Copy number Autism exome sequencing 22495311 NOT_FOUND chr14 62660407 62704746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 62662128 62662202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 62681847 80652470 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1019K arrays 21546498 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,ARG2,ATP6V1D,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,C14orf178,CCDC176,CHURC1,CHURC1-FNTB,COQ6,COX16,DCAF4,DCAF5,DLST,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ESR2,ESRRB,EXD2,FAM161B,FAM71D,FCF1,FLVCR2,FNTB,FOS,FUT8,FUT8-AS1,GALNTL1,GPATCH2L,GPHB5,GPHN,GPX2,GSTZ1,HEATR4,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KCNH5,KIAA0247,KIAA0317,KIAA1737,LIN52,LINC00238,LOC100289511,LOC100506321,LOC145474,LOC731223,LTBP2,MAP3K9,MAX,MED6,MIR1260A,MIR4505,MIR4706,MIR4708,MIR4709,MLH3,MPP5,MTHFD1,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PCNX,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPP1R36,PPP2R5E,PROX2,PSEN1,PTGR2,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SGPP1,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SLIRP,SMOC1,SNORD56B,SNW1,SPTB,SPTLC2,SRSF5,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,TEX21P,TGFB3,TMED10,TMED8,TMEM229B,TMEM63C,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr1 46268501 46274000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAST2 chr14 62691304 62691597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 62700677 62700777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 62719267 62719367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 62740897 62828312 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr14 62740898 62828312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 62740898 62828312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 62740898 62828312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 62773637 63404631 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KCNH5 chr1 46278398 46371295 Gain or loss Breast cancer - 20668451 MAST2 chr1 46278398 46371295 Gain or loss Cancer - 20668451 MAST2 chr1 46278398 46371295 Gain or loss Lung cancer - 20668451 MAST2 chr1 46278398 46371295 Gain or loss Ovarian cancer - 20668451 MAST2 chr1 46278398 46371295 Gain or loss Pancreas cancer - 20668451 MAST2 chr1 46278398 46371295 Gain or loss Prostate cancer - 20668451 MAST2 chr1 46278398 46371295 Gain Ovarian cancer Array CGH 17875760 MAST2 chr1 46278399 46371053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAST2 chr1 46278399 46371053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAST2 chr14 62793479 62794634 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 62793848 62794407 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 62841535 62932227 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 62845437 62935678 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 62849395 62854316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 62849395 62854316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 62849395 62854316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 62856923 62857255 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr14 62856924 62857255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 62879955 62904675 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr1 4628828 4628928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 62886639 62886699 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr14 62892274 62940684 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr14 62909859 73997751 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTN1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,AKAP5,ARG2,ATP6V1D,C14orf162,C14orf169,CHURC1,CHURC1-FNTB,COX16,DCAF4,DCAF5,DPF3,EIF2S1,ERH,ESR2,EXD2,FAM71D,FNTB,FUT8,FUT8-AS1,GALNTL1,GPHB5,GPHN,GPX2,HEATR4,HSPA2,KCNH5,KIAA0247,LINC00238,LOC100289511,LOC100506321,LOC145474,MAP3K9,MAX,MED6,MIR4706,MIR4708,MPP5,MTHFD1,NUMB,PAPLN,PCNX,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PPP1R36,PPP2R5E,PSEN1,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RHOJ,SGPP1,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SNORD56B,SPTB,SRSF5,SYNE2,SYNJ2BP,SYNJ2BP-COX16,TEX21P,TMEM229B,TTC9,VTI1B,WDR89,ZBTB1,ZBTB25,ZFP36L1,ZFYVE1,ZFYVE26 chr14 62911107 63079832 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 62911107 63079832 Gain or loss Cancer - 20668451 NOT_FOUND chr14 62911107 63079832 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 62911107 63079832 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 62911107 63079832 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 62911107 63079832 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 62911108 63079832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 62911108 63079832 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 62911108 63079832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 62957227 62957555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 63015743 63015884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 63104439 63104780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 63125380 63680553 LOH Normal High-resolution SNP genotyping 21211785 KCNH5,RHOJ chr14 63130502 63131745 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 63130502 63131745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 63133510 63177878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH5 chr14 63133510 63177878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH5 chr14 63135250 63136413 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 63143923 63191716 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNH5 chr14 63154514 63154615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 63154514 63154615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 63154518 63154615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 63158231 63158340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 63158231 63158342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 63167149 63167252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 63167149 63167252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 63187767 63187970 Gain and loss Pancreatic cancer SNP array 17952125 KCNH5 chr14 63187768 63187970 Gain and loss Pancreatic cancer SNP array 17952125 KCNH5 chr14 63187768 63187970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH5 chr14 63195591 63195657 Gain and loss Pancreatic cancer SNP array 17952125 KCNH5 chr14 63195591 63195657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH5 chr14 63209649 63209749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH5 chr14 63220687 63264415 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 KCNH5 chr14 63220690 63264509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH5 chr14 63220690 63264509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH5 chr14 63220690 63264526 Gain and loss Pancreatic cancer SNP array 17952125 KCNH5 chr14 63226284 63226484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH5 chr14 63278371 63278471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH5 chr14 63288681 63288825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNH5 chr14 63289772 63289851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH5 chr14 63309669 63309769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH5 chr14 63312676 63343617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNH5 chr14 63317095 63340323 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNH5 chr14 63318723 63341800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNH5 chr14 63332756 63353169 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNH5 chr14 63384732 63384833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH5 chr14 63384733 63384833 Gain and loss Pancreatic cancer SNP array 17952125 KCNH5 chr14 63384734 63384833 Gain and loss Pancreatic cancer SNP array 17952125 KCNH5 chr14 63389436 63762918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH5,RHOJ chr14 63389436 63762918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH5,RHOJ chr14 63389454 63762903 Gain and loss Pancreatic cancer SNP array 17952125 KCNH5,RHOJ chr14 63396676 63396742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNH5 chr14 63400000 65100000 Deletion abnormal development HR-CGH, Array-CGH 18461090 AKAP5,ESR2,GPHB5,HSPA2,KCNH5,MTHFD1,PPP1R36,PPP2R5E,RHOJ,SGPP1,SYNE2,TEX21P,WDR89,ZBTB1,ZBTB25 chr1 46343215 46343434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAST2 chr14 63471060 63504417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNH5 chr14 63518949 63519049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH5 chr14 63543341 64311741 LOH Normal High-resolution SNP genotyping 21211785 GPHB5,KCNH5,PPP2R5E,RHOJ,SGPP1,WDR89 chr1 46358232 46363650 Gain and loss Pancreatic cancer SNP array 17952125 MAST2 chr14 63583330 63583430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 63617503 63617603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 63621388 63875070 Gain and loss Pancreatic cancer SNP array 17952125 GPHB5,PPP2R5E,RHOJ chr14 63629865 64427999 LOH Normal High-resolution SNP genotyping 21211785 GPHB5,PPP2R5E,RHOJ,SGPP1,SYNE2,WDR89 chr14 63631495 63631596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46366377 46376135 Gain and loss Pancreatic cancer SNP array 17952125 MAST2 chr1 46370501 46372000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAST2 chr14 63761795 63761895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 63763506 63875021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHB5,PPP2R5E chr14 63763506 63875021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHB5,PPP2R5E chr14 63771822 63773115 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 NOT_FOUND chr1 46381026 46477267 Gain and loss Pancreatic cancer SNP array 17952125 MAST2 chr14 63811790 63857068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP2R5E chr14 63824877 63824962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 63829172 63899770 Gain small cell lung cancer Real-time Quantitative PCR 17426248 PPP2R5E chr14 63857023 64714123 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ESR2,PPP2R5E,SGPP1,SYNE2,WDR89 chr14 63872306 63875070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5E chr1 46388325 47256119 LOH Normal High-resolution SNP genotyping 21211785 ATPAF1,ATPAF1-AS1,DMBX1,FAAH,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PIK3R3,POMGNT1,RAD54L,TSPAN1,UQCRH chr14 63905716 63905816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP2R5E chr1 46391614 47098257 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DMBX1,FAAH,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PIK3R3,POMGNT1,RAD54L,TSPAN1,UQCRH chr14 63924821 63996474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5E chr14 63924821 63996474 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R5E chr14 63924821 63996474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5E chr14 63954460 63954460 Copy number Prostate cancer Illumina GA II sequencer 21307934 PPP2R5E chr14 63990471 63990621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP2R5E chr14 64000000 67000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKAP5,CHURC1,CHURC1-FNTB,ESR2,FNTB,FUT8,FUT8-AS1,GPHN,GPX2,HSPA2,LINC00238,LOC100506321,MAX,MIR4706,MIR4708,MTHFD1,PLEKHG3,PPP1R36,PPP2R5E,RAB15,SGPP1,SPTB,SYNE2,TEX21P,WDR89,ZBTB1,ZBTB25 chr14 64000000 88900000 Gain Malignant fibrous histiocytomas aCGH 21085701 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,ARG2,ATP6V1D,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,C14orf178,CCDC176,CEP128,CHURC1,CHURC1-FNTB,COQ6,COX16,DCAF4,DCAF5,DIO2,DIO2-AS1,DLST,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ESR2,ESRRB,EXD2,FAM161B,FAM71D,FCF1,FLRT2,FLVCR2,FNTB,FOS,FUT8,FUT8-AS1,GALC,GALNTL1,GPATCH2L,GPHN,GPR65,GPX2,GSTZ1,GTF2A1,HEATR4,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KCNK10,KIAA0247,KIAA0317,KIAA1737,LIN52,LINC00238,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MAX,MED6,MIR1260A,MIR4505,MIR4706,MIR4708,MIR4709,MLH3,MPP5,MTHFD1,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PCNX,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPP1R36,PPP2R5E,PROX2,PSEN1,PTGR2,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SEL1L,SGPP1,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SLIRP,SMOC1,SNORA79,SNORD56B,SNW1,SPATA7,SPTB,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,TEX21P,TGFB3,TMED10,TMED8,TMEM229B,TMEM63C,TSHR,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 64000540 64000702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP2R5E chr14 64003578 64006178 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R5E chr14 64004256 64016821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5E chr14 64004256 64016821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R5E chr14 64023310 64041055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 64023310 64041055 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 64023310 64041055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 64036247 71239273 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTN1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,AKAP5,ARG2,ATP6V1D,C14orf162,CHURC1,CHURC1-FNTB,COX16,DCAF5,EIF2S1,ERH,ESR2,EXD2,FAM71D,FNTB,FUT8,FUT8-AS1,GALNTL1,GPHN,GPX2,HSPA2,KIAA0247,LINC00238,LOC100289511,LOC100506321,MAP3K9,MAX,MED6,MIR4706,MIR4708,MPP5,MTHFD1,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PPP1R36,RAB15,RAD51B,RDH11,RDH12,SGPP1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SPTB,SRSF5,SYNE2,SYNJ2BP,SYNJ2BP-COX16,TEX21P,TMEM229B,TTC9,VTI1B,WDR89,ZBTB1,ZBTB25,ZFP36L1,ZFYVE26 chr14 64040455 64070161 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 WDR89 chr14 64040456 64060368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 64040456 64070161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR89 chr14 64040456 64070161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR89 chr14 64042205 105542791 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1028K arrays 21546498 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKAP5,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ARG2,ASB2,ASPG,ATG2B,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESR2,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FCF1,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPHN,GPR132,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MPP5,MTHFD1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,OTUB2,PAPLN,PAPOLA,PCNX,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPP1R13B,PPP1R36,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAB15,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SGPP1,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTB,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX21P,TGFB3,TMED10,TMED8,TMEM179,TMEM229B,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr1 46404501 46443000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAST2 chr14 64069791 64362423 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 SGPP1,SYNE2,WDR89 chr14 64070693 64102391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR89 chr14 64072376 64079705 Gain and loss Pancreatic cancer SNP array 17952125 WDR89 chr14 64072376 64079708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR89 chr14 64072376 64079708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR89 chr14 64077733 64077733 Copy number Prostate cancer Illumina GA II sequencer 21307934 WDR89 chr14 64084537 64090168 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 WDR89 chr14 64085406 64089282 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 WDR89 chr14 64086373 64125849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR89 chr14 64086373 64125849 Gain and loss Pancreatic cancer SNP array 17952125 WDR89 chr14 64086373 64125849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR89 chr1 46413345 46424217 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAST2 chr1 46413346 46424217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAST2 chr1 46413346 46424217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAST2 chr14 64218080 64251403 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 64240907 64280810 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 64240946 64280810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 64240946 64280810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46425202 46624292 Loss Barrett's syndrome BAC array 19417022 MAST2,PIK3R3 chr1 46425437 46456165 Gain and loss Pancreatic cancer SNP array 17952125 MAST2 chr14 64263001 64312000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 46426941 46458564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAST2 chr1 46426941 46458564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAST2 chr14 64282754 64359619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64282754 64359619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64282781 64282978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 64284635 64284732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 64284778 64416302 Gain and loss Pancreatic cancer SNP array 17952125 SYNE2 chr14 64338973 64342058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYNE2 chr14 64404616 64404716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNE2 chr1 46441593 46537834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAST2,PIK3R3 chr1 46441593 46537834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAST2,PIK3R3 chr14 64422475 64449555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SYNE2 chr14 64428101 64435400 Deletion Glioma mate-paired sequence 20126413 SYNE2 chr14 64430140 64433293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYNE2 chr14 64450893 64471666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64450893 64471666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64450921 64470651 Gain and loss Pancreatic cancer SNP array 17952125 SYNE2 chr14 64475625 64479284 Gain and loss Pancreatic cancer SNP array 17952125 SYNE2 chr14 64475959 64479197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64482288 64508551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64482288 64508551 Gain and loss Pancreatic cancer SNP array 17952125 SYNE2 chr14 64482288 64508551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64491244 64504182 Gain Normal 244K array 17666407 SYNE2 chr14 64519124 64519224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNE2 chr14 64523260 64599122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64523260 64599122 Gain and loss Pancreatic cancer SNP array 17952125 SYNE2 chr14 64523260 64599122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64542644 64638980 Gain or loss Breast cancer - 20668451 SYNE2 chr14 64542644 64638980 Gain or loss Cancer - 20668451 SYNE2 chr14 64542644 64638980 Gain or loss Lung cancer - 20668451 SYNE2 chr14 64542644 64638980 Gain or loss Ovarian cancer - 20668451 SYNE2 chr14 64542644 64638980 Gain or loss Pancreas cancer - 20668451 SYNE2 chr14 64542644 64638980 Gain or loss Prostate cancer - 20668451 SYNE2 chr14 64542645 64638980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64542645 64638980 Gain and loss Pancreatic cancer SNP array 17952125 SYNE2 chr14 64542645 64638980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr1 46456093 46481295 Gain and loss Pancreatic cancer SNP array 17952125 MAST2 chr14 64610654 65217447 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP5,ESR2,HSPA2,MTHFD1,PLEKHG3,PPP1R36,SPTB,SYNE2,TEX21P,ZBTB1,ZBTB25 chr14 64610654 65378673 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP5,ESR2,HSPA2,MTHFD1,PLEKHG3,PPP1R36,SPTB,SYNE2,TEX21P,ZBTB1,ZBTB25 chr14 64612382 64632059 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 SYNE2 chr14 64612515 64812190 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ESR2,SYNE2 chr14 64660823 64661013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE2 chr14 64660826 64661013 Gain and loss Pancreatic cancer SNP array 17952125 SYNE2 chr14 64676111 64677800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYNE2 chr14 64676323 64677672 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SYNE2 chr14 64677571 64677645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNE2 chr14 64687844 64704899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ESR2,SYNE2 chr14 64755118 64758772 Gain and loss Pancreatic cancer SNP array 17952125 ESR2 chr14 64778986 64782718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ESR2 chr14 64800000 104000000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AK7,AKAP5,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,ARG2,ASB2,ATG2B,ATP6V1D,ATXN3,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf64,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CEP128,CHGA,CHURC1,CHURC1-FNTB,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESR2,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FCF1,FLRT2,FLVCR2,FNTB,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,FUT8,FUT8-AS1,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPHN,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0317,KIAA1737,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00642,LOC100129345,LOC100289511,LOC100506321,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MAX,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4706,MIR4708,MIR4709,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MPP5,MTHFD1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,OTUB2,PAPLN,PAPOLA,PCNX,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPP1R36,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAB15,RAD51B,RBM25,RCOR1,RDH11,RDH12,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTB,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TECPR2,TEX21P,TGFB3,TMED10,TMED8,TMEM229B,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDR20,WDR25,YLPM1,YY1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410,ZNF839 chr14 64800000 79300000 Loss Breast cancer Microarray-based CGH 17133270 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,AKAP5,ALDH6A1,ALKBH1,ANGEL1,ARG2,ATP6V1D,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,C14orf178,CCDC176,CHURC1,CHURC1-FNTB,COQ6,COX16,DCAF4,DCAF5,DLST,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ESR2,ESRRB,EXD2,FAM161B,FAM71D,FCF1,FLVCR2,FNTB,FOS,FUT8,FUT8-AS1,GALNTL1,GPATCH2L,GPHN,GPX2,GSTZ1,HEATR4,HSPA2,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0247,KIAA0317,KIAA1737,LIN52,LINC00238,LOC100289511,LOC100506321,LOC145474,LOC731223,LTBP2,MAP3K9,MAX,MED6,MIR1260A,MIR4505,MIR4706,MIR4708,MIR4709,MLH3,MPP5,MTHFD1,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PCNX,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,POMT2,PPP1R36,PROX2,PSEN1,PTGR2,RAB15,RAD51B,RBM25,RDH11,RDH12,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SLIRP,SMOC1,SNORD56B,SNW1,SPTB,SPTLC2,SRSF5,SYNDIG1L,SYNJ2BP,SYNJ2BP-COX16,TEX21P,TGFB3,TMED10,TMED8,TMEM229B,TMEM63C,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,VTI1B,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 64803109 64804170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESR2 chr14 64803109 65004812 Gain and loss Pancreatic cancer SNP array 17952125 AKAP5,ESR2,MTHFD1,TEX21P,ZBTB1,ZBTB25 chr14 64804244 64804949 Gain Normal Birdsuite, version 1.5.2 22087296 ESR2 chr14 64804949 64812189 Gain Normal Birdsuite, version 1.5.2 22087296 ESR2 chr14 64805300 64807938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 64812189 64827501 Gain Normal Birdsuite, version 1.5.2 22087296 TEX21P chr1 46481400 46494465 Gain and loss Pancreatic cancer SNP array 17952125 MAST2 chr14 64815738 64817637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 64815738 64817637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 64829542 66390332 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKAP5,CHURC1,CHURC1-FNTB,FNTB,FUT8,FUT8-AS1,GPX2,HSPA2,LOC100506321,MAX,MIR4706,MIR4708,MTHFD1,PLEKHG3,PPP1R36,RAB15,SPTB,ZBTB1,ZBTB25 chr1 46486004 46516732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAST2,PIK3R3 chr1 46486004 46516732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAST2,PIK3R3 chr14 64902801 64907000 Deletion Glioma mate-paired sequence 20126413 MTHFD1 chr14 64908561 64908661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTHFD1 chr14 64935205 64935305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP5 chr14 64947063 65279714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPA2,PLEKHG3,PPP1R36,SPTB,ZBTB1,ZBTB25 chr14 64947063 65279714 Gain and loss Pancreatic cancer SNP array 17952125 HSPA2,PLEKHG3,PPP1R36,SPTB,ZBTB1,ZBTB25 chr14 64947063 65279714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPA2,PLEKHG3,PPP1R36,SPTB,ZBTB1,ZBTB25 chr14 64959338 64959438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB25 chr14 64965276 65638556 Amplification or deletion Cancer Array CGH 17440070 CHURC1,CHURC1-FNTB,FNTB,GPX2,HSPA2,LOC100506321,MAX,MIR4706,PLEKHG3,PPP1R36,RAB15,SPTB,ZBTB1,ZBTB25 chr14 64978487 65093419 Inversion Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 HSPA2,PPP1R36,ZBTB1 chr1 46500000 51300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGBL4,ATPAF1,ATPAF1-AS1,BEND5,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,DMRTA2,ELAVL4,FAAH,FAF1,FOXD2,FOXD2-AS1,FOXE3,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,POMGNT1,RAD54L,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TRABD2B,TSPAN1,UQCRH chr1 46500000 51300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGBL4,ATPAF1,ATPAF1-AS1,BEND5,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,DMRTA2,ELAVL4,FAAH,FAF1,FOXD2,FOXD2-AS1,FOXE3,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,POMGNT1,RAD54L,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TRABD2B,TSPAN1,UQCRH chr1 46500000 51300000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 120 samples 21899760 AGBL4,ATPAF1,ATPAF1-AS1,BEND5,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,DMRTA2,ELAVL4,FAAH,FAF1,FOXD2,FOXD2-AS1,FOXE3,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,POMGNT1,RAD54L,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TRABD2B,TSPAN1,UQCRH chr1 46500000 51300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGBL4,ATPAF1,ATPAF1-AS1,BEND5,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,DMRTA2,ELAVL4,FAAH,FAF1,FOXD2,FOXD2-AS1,FOXE3,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,POMGNT1,RAD54L,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TRABD2B,TSPAN1,UQCRH chr1 46500000 51300000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 AGBL4,ATPAF1,ATPAF1-AS1,BEND5,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,DMRTA2,ELAVL4,FAAH,FAF1,FOXD2,FOXD2-AS1,FOXE3,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MAST2,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,POMGNT1,RAD54L,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TRABD2B,TSPAN1,UQCRH chr1 46500000 56200000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT11,AGBL4,ATPAF1,ATPAF1-AS1,BEND5,BSND,BTF3L4,C1orf123,C1orf177,C1orf185,CC2D1B,CDCP2,CDKN2C,CMPK1,CPT2,CYB5RL,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DHCR24,DIO1,DMBX1,DMRTA2,DMRTB1,ECHDC2,ELAVL4,EPS15,FAAH,FAF1,FAM151A,FAM159A,FOXD2,FOXD2-AS1,FOXE3,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KIAA0494,KIAA0494-AS1,KNCN,KTI12,LDLRAD1,LOC100507564,LOC100507634,LOC729041,LRP8,LRRC41,LRRC42,LURAP1,MAGOH,MAST2,MIR4422,MIR4781,MIR761,MKNK1,MKNK1-AS1,MOB3C,MRPL37,NRD1,NSUN4,ORC1,OSBPL9,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PODN,POMGNT1,PRPF38A,RAB3B,RAD54L,RNF11,SCP2,SELRC1,SKINTL,SLC1A7,SLC25A3P1,SLC5A9,SPATA6,SSBP3,STIL,TAL1,TCEANC2,TMEM48,TMEM59,TMEM61,TRABD2B,TSPAN1,TTC22,TTC39A,TTC4,TXNDC12,UQCRH,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 46500000 56200000 Gain Malignant fibrous histiocytomas aCGH 21085701 ACOT11,AGBL4,ATPAF1,ATPAF1-AS1,BEND5,BSND,BTF3L4,C1orf123,C1orf177,C1orf185,CC2D1B,CDCP2,CDKN2C,CMPK1,CPT2,CYB5RL,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DHCR24,DIO1,DMBX1,DMRTA2,DMRTB1,ECHDC2,ELAVL4,EPS15,FAAH,FAF1,FAM151A,FAM159A,FOXD2,FOXD2-AS1,FOXE3,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KIAA0494,KIAA0494-AS1,KNCN,KTI12,LDLRAD1,LOC100507564,LOC100507634,LOC729041,LRP8,LRRC41,LRRC42,LURAP1,MAGOH,MAST2,MIR4422,MIR4781,MIR761,MKNK1,MKNK1-AS1,MOB3C,MRPL37,NRD1,NSUN4,ORC1,OSBPL9,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PODN,POMGNT1,PRPF38A,RAB3B,RAD54L,RNF11,SCP2,SELRC1,SKINTL,SLC1A7,SLC25A3P1,SLC5A9,SPATA6,SSBP3,STIL,TAL1,TCEANC2,TMEM48,TMEM59,TMEM61,TRABD2B,TSPAN1,TTC22,TTC39A,TTC4,TXNDC12,UQCRH,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 46500000 60900000 Loss Hepatocellular carcinoma Array CGH 16750200 ACOT11,AGBL4,ATPAF1,ATPAF1-AS1,BEND5,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C1orf87,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CMPK1,CPT2,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DHCR24,DIO1,DMBX1,DMRTA2,DMRTB1,ECHDC2,ELAVL4,EPS15,FAAH,FAF1,FAM151A,FAM159A,FGGY,FOXD2,FOXD2-AS1,FOXE3,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HOOK1,HSD52,HSPB11,JUN,KIAA0494,KIAA0494-AS1,KNCN,KTI12,LDLRAD1,LOC100131060,LOC100507564,LOC100507634,LOC729041,LRP8,LRRC41,LRRC42,LURAP1,MAGOH,MAST2,MIR4422,MIR4711,MIR4781,MIR761,MKNK1,MKNK1-AS1,MOB3C,MRPL37,MYSM1,NRD1,NSUN4,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PIK3R3,PODN,POMGNT1,PPAP2B,PRKAA2,PRPF38A,RAB3B,RAD54L,RNF11,SCP2,SELRC1,SKINTL,SLC1A7,SLC25A3P1,SLC5A9,SPATA6,SSBP3,STIL,TACSTD2,TAL1,TCEANC2,TMEM48,TMEM59,TMEM61,TRABD2B,TSPAN1,TTC22,TTC39A,TTC4,TXNDC12,UQCRH,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr14 65001881 65310639 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1032K arrays 21546498 HSPA2,PLEKHG3,PPP1R36,SPTB chr14 65004278 65004812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 65007573 65007657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPA2 chr14 65014871 65015045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 65028804 65350314 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1024K arrays 21546498 PLEKHG3,PPP1R36,SPTB chr14 65054007 65480080 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHURC1,CHURC1-FNTB,FNTB,GPX2,MAX,PLEKHG3,PPP1R36,RAB15,SPTB chr14 65074904 65479186 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CHURC1,CHURC1-FNTB,FNTB,GPX2,MAX,PLEKHG3,RAB15,SPTB chr14 65074904 65482199 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CHURC1,CHURC1-FNTB,FNTB,GPX2,MAX,PLEKHG3,RAB15,SPTB chr14 65076168 65462663 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHURC1,CHURC1-FNTB,FNTB,GPX2,PLEKHG3,RAB15,SPTB chr14 65076168 65464548 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHURC1,CHURC1-FNTB,FNTB,GPX2,PLEKHG3,RAB15,SPTB chr14 65089812 65478086 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHURC1,CHURC1-FNTB,FNTB,GPX2,MAX,PLEKHG3,RAB15,SPTB chr14 65089812 65480080 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHURC1,CHURC1-FNTB,FNTB,GPX2,MAX,PLEKHG3,RAB15,SPTB chr14 65089812 65497550 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHURC1,CHURC1-FNTB,FNTB,GPX2,MAX,PLEKHG3,RAB15,SPTB chr14 65096008 65096069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 46516660 46541625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3R3 chr1 46516660 46541625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3R3 chr1 46517198 46517198 Copy number Prostate cancer Illumina GA II sequencer 21307934 PIK3R3 chr1 46518410 46542710 Gain and loss Pancreatic cancer SNP array 17952125 PIK3R3 chr14 65227415 65227998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPTB chr14 65244281 65244367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTB chr14 65268227 65268327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTB chr14 65275722 67085224 Deletion Cancer Affymetrix 250K Sty array 20164920 CHURC1,CHURC1-FNTB,FNTB,FUT8,FUT8-AS1,GPHN,GPX2,LINC00238,LOC100506321,MAX,MIR4706,MIR4708,RAB15,SPTB chr14 65288535 65288611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTB chr14 65360244 65360344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 46536537 46536611 Gain and loss Pancreatic cancer SNP array 17952125 PIK3R3 chr14 65416063 65417529 Gain and loss Pancreatic cancer SNP array 17952125 CHURC1-FNTB,RAB15 chr1 46541957 46555032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3R3 chr1 46541957 46555032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3R3 chr14 65425530 65425595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHURC1-FNTB,RAB15 chr14 65434350 66507181 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 CHURC1-FNTB,FNTB,FUT8,FUT8-AS1,LOC100506321,MAX,MIR4706,MIR4708,RAB15 chr14 65458845 66995717 LOH Normal High-resolution SNP genotyping 21211785 CHURC1-FNTB,FNTB,FUT8,FUT8-AS1,GPHN,LINC00238,LOC100506321,MAX,MIR4706,MIR4708 chr14 65479814 65507050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHURC1-FNTB,FNTB,MAX chr14 65480070 65480135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHURC1-FNTB,FNTB,MAX chr14 65485 104688087 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,AHSA1,AJUBA,AK7,AKAP5,AKAP6,ALDH6A1,ALKBH1,AMN,ANG,ANGEL1,ANKRD9,AP1G2,AP4S1,AP5M1,APEX1,APOPT1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ASB2,ASPG,ATG14,ATG2B,ATL1,ATP5S,ATP6V1D,ATXN3,BAG5,BATF,BAZ1A,BCL11B,BCL2L2,BCL2L2-PABPN1,BDKRB1,BDKRB2,BEGAIN,BMP4,BRMS1L,BTBD7,C14orf1,C14orf101,C14orf105,C14orf119,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf177,C14orf178,C14orf182,C14orf183,C14orf2,C14orf23,C14orf28,C14orf37,C14orf39,C14orf64,C14orf93,CALM1,CATSPERB,CBLN3,CCDC175,CCDC176,CCDC85C,CCDC88C,CCNB1IP1,CCNK,CDC42BPB,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHGA,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CINP,CKB,CLEC14A,CLMN,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,COX8C,CPNE6,CPSF2,CTAGE5,CTSG,CYP46A1,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DDX24,DEGS2,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLGAP5,DLK1,DLST,DNAAF2,DNAL1,DPF3,DTD2,DYNC1H1,EAPP,ECRP,EDDM3A,EDDM3B,EFCAB11,EFS,EGLN3,EIF2B2,EIF2S1,EIF5,ELMSAN1,EMC9,EML1,EML5,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EVL,EXD2,EXOC3L4,EXOC5,FAM161B,FAM177A1,FAM179B,FAM181A,FAM181A-AS1,FAM71D,FANCM,FBLN5,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FOXN3,FOXN3-AS1,FOXN3-AS2,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALC,GALNTL1,GCH1,GEMIN2,GLRX5,GMFB,GMPR2,GNG2,GNPNAT1,GOLGA5,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR33,GPR65,GPR68,GPX2,GSC,GSKIP,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HHIPL1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSP90AA1,HSPA2,IFI27,IFI27L1,IFI27L2,IFT43,IGBP1P1,IL25,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,JKAMP,JPH4,KCNH5,KCNK10,KCNK13,KHNYN,KIAA0247,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KIF26A,KLC1,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LGMN,LIN52,LINC00238,LINC00239,LINC00341,LINC00520,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00639,LINC00640,LINC00641,LINC00642,LINC00643,LINC00645,LINC00648,LOC100129345,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC283587,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MARK3,MAX,MBIP,MDGA2,MDP1,MED6,MEG3,MEG8,MEG9,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR208A,MIR208B,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4307,MIR4308,MIR4309,MIR431,MIR432,MIR433,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR548AI,MIR548Y,MIR5580,MIR5698,MIR624,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MIS18BP1,MLH3,MMP14,MNAT1,MOAP1,MOK,MPP5,MRPL52,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NDUFB1,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRDE2,NRL,NRXN3,NUBPL,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTUB2,OTX2,OTX2-AS1,OXA1L,PABPN1,PAPLN,PAPOLA,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R13B,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5C,PPP2R5E,PPP4R4,PRIMA1,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC1,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PTPN21,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RCOR1,RD3L,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIN3,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KA5,RPS6KL1,RTL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCARNA13,SCFD1,SDR39U1,SEC23A,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SFTA3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC24A4,SLC25A21,SLC25A29,SLC25A47,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMEK1,SMOC1,SNAPC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPATA7,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNE3,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEP1,TEX21P,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM229B,TMEM251,TMEM30B,TMEM55B,TMEM63C,TMX1,TNFAIP2,TOMM20L,TOX4,TPPP2,TRAF3,TRAPPC6B,TRIM9,TRIP11,TRMT5,TRMT61A,TSHR,TSSK4,TTC5,TTC7B,TTC8,TTC9,TTLL5,TXNDC16,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDHD1,WDR20,WDR25,WDR89,XRCC3,YLPM1,YY1,ZBTB1,ZBTB25,ZC2HC1C,ZC3H14,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF219,ZNF410,ZNF839 chr14 65503288 66475109 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1039K arrays 21546498 CHURC1-FNTB,FNTB,FUT8,FUT8-AS1,LOC100506321,MAX,MIR4706,MIR4708 chr14 65521365 66953129 LOH Normal High-resolution SNP genotyping 21211785 CHURC1-FNTB,FNTB,FUT8,FUT8-AS1,LINC00238,LOC100506321,MAX,MIR4708 chr14 65522753 66953129 LOH Normal High-resolution SNP genotyping 21211785 CHURC1-FNTB,FNTB,FUT8,FUT8-AS1,LINC00238,LOC100506321,MAX,MIR4708 chr14 65529365 66098904 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHURC1-FNTB,FNTB,FUT8,FUT8-AS1,LOC100506321,MAX,MIR4708 chr14 65549123 65549223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAX chr14 65549301 65550197 Gain and loss Pancreatic cancer SNP array 17952125 MAX chr14 65549301 65550260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAX chr14 65606389 65762067 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr14 65608509 65608599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 65713998 65714106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 65714000 65714096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 65714000 65714105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 46572012 46591540 Gain and loss Pancreatic cancer SNP array 17952125 PIK3R3 chr14 65730469 65730569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 65748756 65793437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 46575257 46575546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIK3R3 chr1 46575920 46576211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIK3R3 chr1 46578977 46603275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3R3 chr1 46578977 46603275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3R3 chr14 65790000 65910000 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 FUT8,FUT8-AS1,MIR4708 chr1 46580095 46600451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3R3 chr14 65880383 65880694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FUT8 chr14 65904598 65904630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FUT8 chr14 65934919 66307812 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1029K arrays 21546498 FUT8 chr14 65934919 66475109 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1035K arrays 21546498 FUT8 chr14 65952334 66285619 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1040K arrays 21546498 FUT8 chr14 65965928 66255108 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1031K arrays 21546498 FUT8 chr14 65965928 66307812 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1033K arrays 21546498 FUT8 chr14 65965928 66737790 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1037K arrays 21546498 FUT8 chr1 46597104 46597178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3R3 chr14 66010118 66010218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FUT8 chr14 66022842 66035023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUT8 chr14 66022871 66035024 Gain and loss Pancreatic cancer SNP array 17952125 FUT8 chr14 66034924 66035003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FUT8 chr14 66043878 66718268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FUT8 chr14 66043878 66718268 Gain and loss Pancreatic cancer SNP array 17952125 FUT8 chr14 66043878 66718268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUT8 chr14 66063737 66088927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FUT8 chr1 46608845 46609214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66137360 66137415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FUT8 chr14 66147000 66322000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 FUT8 chr14 66147000 66322000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 FUT8 chr14 66163185 66163285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FUT8 chr14 66210048 66536925 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FUT8 chr14 66222289 66253370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 66276581 67052754 Amplification or deletion Cancer Array CGH 17440070 GPHN,LINC00238 chr14 66294813 66294913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 46631799 47428294 LOH Normal High-resolution SNP genotyping 21211785 ATPAF1,ATPAF1-AS1,CYP4A11,CYP4B1,CYP4Z2P,DMBX1,FAAH,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,LURAP1,MKNK1,MKNK1-AS1,MOB3C,NSUN4,POMGNT1,RAD54L,TSPAN1,UQCRH chr1 46632579 46652096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSPAN1 chr1 46632579 46652096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN1 chr14 66329827 66329917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 46634119 46634336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46640001 46795000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC41,LURAP1,POMGNT1,RAD54L,TSPAN1,UQCRH chr14 66412610 66413243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66471122 66490359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 66473310 66502321 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 66477551 66477609 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 66535133 66535233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 66548957 66549037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 66725899 66765020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66725899 66765020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66725899 66765020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66735532 66736600 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66777774 66872288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66777774 66872288 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66777774 66872288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66796697 66796784 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66796700 66796806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66796703 66796806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66809038 68357236 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,LINC00238,MPP5,PIGH,PLEK2,PLEKHH1,RAD51B,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr14 66810031 66833662 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 66830840 66896344 Copy number Lung cancer - 20668451 NOT_FOUND chr14 66830840 66896344 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 66830840 66896344 Gain or loss Cancer - 20668451 NOT_FOUND chr14 66830840 66896344 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 66830840 66896344 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 66830840 66896344 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 66830840 66896344 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 46684688 46691904 Gain and loss Pancreatic cancer SNP array 17952125 LURAP1,POMGNT1 chr14 66872608 68014281 Duplication Acute myeloid leukemia - 21251322 ATP6V1D,EIF2S1,FAM71D,GPHN,LINC00238,MPP5,PLEK2,PLEKHH1,TMEM229B chr14 66874343 66896344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66874343 66896344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66874343 66896344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66876538 66876643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66876538 66876644 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66876538 66876646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66896787 66922986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66896787 66922986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66896838 66921909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66923455 66948581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66923455 66948581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 66923458 66948614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 66928127 67007645 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPHN,LINC00238 chr14 66930052 66943549 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 66933314 66978478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPHN,LINC00238 chr14 66933511 66961797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00238 chr1 46698181 46740477 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RAD54L chr14 66983554 67051955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 66983554 67051955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67000000 106368585 Copy number cataract PCR-based DNA sequencing methods 16735990 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ARG2,ASB2,ASPG,ATG2B,ATP6V1D,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF2S1,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FAM71D,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPHN,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC100289511,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MPP5,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PIGH,PLD4,PLEK2,PLEKHD1,PLEKHH1,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAD51B,RBM25,RCOR1,RD3L,RDH11,RDH12,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM229B,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,VTI1B,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZFYVE26,ZNF410,ZNF839 chr14 67001773 67001923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPHN chr14 67008477 67053910 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPHN chr14 67009890 67010393 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67017578 67051071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPHN chr1 46705339 47747443 LOH Normal High-resolution SNP genotyping 21211785 ATPAF1,ATPAF1-AS1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,FAAH,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,LRRC41,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,RAD54L,STIL,TAL1,UQCRH chr14 67065206 77513432 Loss Neuroblastoma aCGH 20406844 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ALDH6A1,ANGEL1,ARG2,ATP6V1D,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,CCDC176,COQ6,COX16,DCAF4,DCAF5,DLST,DNAL1,DPF3,EIF2B2,EIF2S1,ELMSAN1,ENTPD5,ERH,ESRRB,EXD2,FAM161B,FAM71D,FCF1,FLVCR2,FOS,GALNTL1,GPATCH2L,GPHN,HEATR4,IFT43,IRF2BPL,ISCA2,JDP2,KIAA0247,KIAA0317,LIN52,LOC100289511,LOC145474,LOC731223,LTBP2,MAP3K9,MED6,MIR4505,MIR4709,MLH3,MPP5,NEK9,NPC2,NUMB,PAPLN,PCNX,PGF,PIGH,PLEK2,PLEKHD1,PLEKHH1,PNMA1,PROX2,PSEN1,PTGR2,RAD51B,RBM25,RDH11,RDH12,RGS6,RNU6-19,RNU6-6,RPS6KL1,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SNORD56B,SRSF5,SYNDIG1L,SYNJ2BP,SYNJ2BP-COX16,TGFB3,TMED10,TMEM229B,TTC9,TTLL5,VASH1,VRTN,VSX2,VTI1B,YLPM1,ZC2HC1C,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 67069761 67126008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67069761 67126008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67069785 67126004 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67088466 67343145 Gain Autism Exome sequencing and CGH 22495309 GPHN chr14 67125776 67136770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67125776 67136770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67125784 67136733 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67153772 67153885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67153774 67153882 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67153774 67153885 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67156332 67188187 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67156332 67188190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67156332 67188190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67187622 67211301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67187622 67211301 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67187622 67211301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67193573 67193679 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67193574 67193690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67193575 67193679 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67213274 67232213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67213274 67232213 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67213274 67232213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr1 46721337 46753050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC41,RAD54L chr1 46723336 46727704 Gain and loss Pancreatic cancer SNP array 17952125 RAD54L chr1 4672337 4672431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 67242424 67242729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67242426 67242722 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67242426 67242722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67257456 68125552 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,TMEM229B,VTI1B chr14 67258943 67270920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67258943 67270920 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67258943 67270920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67259687 67762403 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM71D,GPHN,MPP5 chr14 67262406 68018912 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PLEK2,PLEKHH1,TMEM229B chr14 67263844 67353055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67263844 67353055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67281873 67281943 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67281873 67281943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67282992 67353055 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67287698 67288014 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67287698 67288014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67287700 67288014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPHN chr14 67290453 67300450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPHN chr1 46735111 46781930 Gain and loss Pancreatic cancer SNP array 17952125 LRRC41,RAD54L,UQCRH chr14 67356261 68266688 Gain or loss Breast cancer - 20668451 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr14 67356261 68266688 Gain or loss Cancer - 20668451 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr14 67356261 68266688 Gain or loss Lung cancer - 20668451 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr14 67356261 68266688 Gain or loss Ovarian cancer - 20668451 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr14 67356261 68266688 Gain or loss Pancreas cancer - 20668451 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr14 67356261 68266688 Gain or loss Prostate cancer - 20668451 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr14 67356262 68187315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B chr14 67356262 68187315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B chr14 67360014 68187315 Gain and loss Pancreatic cancer SNP array 17952125 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B chr14 673856 6770921 Copy number Autism exome sequencing 22495311 NOT_FOUND chr14 67429806 67429867 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67430958 67431058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPHN chr14 67443486 67443701 Gain and loss Pancreatic cancer SNP array 17952125 GPHN chr14 67446758 67446909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPHN chr1 46745255 46752471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC41 chr1 46745255 46752471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC41 chr14 67518193 67596865 Gain Normal Birdsuite, version 1.5.2 22087296 GPHN chr14 67535832 67535927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPHN chr14 67553830 68178146 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARG2,ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PIGH,PLEK2,PLEKHH1,RDH11,RDH12,TMEM229B,VTI1B chr14 67670701 67675500 Deletion Glioma mate-paired sequence 20126413 FAM71D chr14 67671532 67902720 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP6V1D,EIF2S1,FAM71D,MPP5,PLEK2 chr14 67672785 67673484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM71D chr14 67686088 67686378 Gain and loss Pancreatic cancer SNP array 17952125 FAM71D chr14 67686088 67686378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM71D chr14 67686090 67686378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM71D chr14 67701627 68475108 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1022K arrays 21546498 ARG2,ATP6V1D,EIF2S1,MPP5,PIGH,PLEK2,PLEKHH1,RAD51B,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr14 67772713 67773008 Gain and loss Pancreatic cancer SNP array 17952125 MPP5 chr14 67772713 67773008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPP5 chr1 46778603 46778693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UQCRH chr14 67812589 67812689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP6V1D chr1 46783903 46789786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46783903 46789786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 67844163 67858387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EIF2S1,PLEK2 chr1 46785412 46794526 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 67858932 67892449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLEK2 chr14 67875217 67876011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEK2 chr14 67875232 67875987 Gain and loss Pancreatic cancer SNP array 17952125 PLEK2 chr14 67881329 67881424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 67892033 67893033 Loss Chordoma References 21215367 NOT_FOUND chr14 67894685 67895685 Gain Chordoma References 21215367 NOT_FOUND chr14 67900000 70200000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ACTN1,ARG2,C14orf162,DCAF5,ERH,EXD2,GALNTL1,KIAA0247,PIGH,PLEKHD1,PLEKHH1,RAD51B,RDH11,RDH12,SLC39A9,TMEM229B,VTI1B,ZFP36L1,ZFYVE26 chr14 67900000 79300000 Deletion Hepatocellular carcinoma Array CGH 16750200 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,ARG2,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,C14orf178,CCDC176,COQ6,COX16,DCAF4,DCAF5,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ERH,ESRRB,EXD2,FAM161B,FCF1,FLVCR2,FOS,GALNTL1,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0247,KIAA0317,KIAA1737,LIN52,LOC100289511,LOC145474,LOC731223,LTBP2,MAP3K9,MED6,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PCNX,PGF,PIGH,PLEKHD1,PLEKHH1,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RAD51B,RBM25,RDH11,RDH12,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SLIRP,SMOC1,SNORD56B,SNW1,SPTLC2,SRSF5,SYNDIG1L,SYNJ2BP,SYNJ2BP-COX16,TGFB3,TMED10,TMED8,TMEM229B,TMEM63C,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,VTI1B,YLPM1,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE26,ZNF410 chr14 67914101 67914201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 67920578 67920672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 67928448 67928548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 46795676 46842538 Gain or loss Breast cancer - 20668451 NSUN4 chr1 46795676 46842538 Gain or loss Cancer - 20668451 NSUN4 chr1 46795676 46842538 Gain or loss Lung cancer - 20668451 NSUN4 chr1 46795676 46842538 Gain or loss Ovarian cancer - 20668451 NSUN4 chr1 46795676 46842538 Gain or loss Pancreas cancer - 20668451 NSUN4 chr1 46795676 46842538 Gain or loss Prostate cancer - 20668451 NSUN4 chr1 46795677 46842497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NSUN4 chr1 46795677 46842497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NSUN4 chr14 67957728 67989181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM229B chr14 67958168 67958696 Gain and loss Pancreatic cancer SNP array 17952125 TMEM229B chr14 67958174 67958678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM229B chr14 67981307 68869559 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARG2,PIGH,PLEKHH1,RAD51B,RDH11,RDH12,TMEM229B,VTI1B,ZFYVE26 chr1 46800000 50700000 Copy number Glioblastoma correlation matrix diagonal segmentation method 20031968 AGBL4,ATPAF1,ATPAF1-AS1,BEND5,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,ELAVL4,FAAH,FOXD2,FOXD2-AS1,FOXE3,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TRABD2B chr1 46800000 50700000 Loss Leukemia RQ-PCR 18688285 AGBL4,ATPAF1,ATPAF1-AS1,BEND5,CMPK1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,ELAVL4,FAAH,FOXD2,FOXD2-AS1,FOXE3,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,MKNK1,MKNK1-AS1,MOB3C,NSUN4,PDZK1IP1,PDZK1IP1-AS1,SKINTL,SLC5A9,SPATA6,STIL,TAL1,TRABD2B chr14 68001986 68036057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLEKHH1 chr14 68035501 69571500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTN1,ARG2,DCAF5,PIGH,PLEKHH1,RAD51B,RDH11,RDH12,VTI1B,ZFP36L1,ZFYVE26 chr14 68038856 68038946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHH1 chr14 68065133 68065206 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PIGH chr14 68065133 68065206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIGH chr1 46806796 46806888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NSUN4 chr14 68099375 68108279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARG2 chr1 46810481 46810693 Gain and loss Pancreatic cancer SNP array 17952125 NSUN4 chr14 68117692 68117782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARG2 chr1 46812733 46846048 Gain and loss Pancreatic cancer SNP array 17952125 NSUN4 chr14 68200579 68551084 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 RAD51B,RDH12,ZFYVE26 chr14 68212229 68246740 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZFYVE26 chr14 68226391 68226491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE26 chr14 68251273 68251363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE26 chr14 68271232 68272232 Gain Chordoma References 21215367 ZFYVE26 chr14 68272392 68272498 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE26 chr14 68272392 68272498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE26 chr14 68288119 106242479 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1025K arrays 21546498 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC100289511,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PLD4,PLEKHD1,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAD51B,RBM25,RCOR1,RD3L,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZNF410,ZNF839 chr14 68324000 77924000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ALDH6A1,ANGEL1,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,CCDC176,COQ6,COX16,DCAF4,DCAF5,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ERH,ESRRB,EXD2,FAM161B,FCF1,FLVCR2,FOS,GALNTL1,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,JDP2,KIAA0247,KIAA0317,KIAA1737,LIN52,LOC100289511,LOC145474,LOC731223,LTBP2,MAP3K9,MED6,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NUMB,PAPLN,PCNX,PGF,PLEKHD1,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RAD51B,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SNORD56B,SRSF5,SYNDIG1L,SYNJ2BP,SYNJ2BP-COX16,TGFB3,TMED10,TMED8,TMEM63C,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZNF410 chr14 68325077 68331206 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68325077 68331206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr1 4683303 4683403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 68331711 106193423 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC100289511,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PLD4,PLEKHD1,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAD51B,RBM25,RCOR1,RD3L,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZNF410,ZNF839 chr14 68331711 106220089 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1038K arrays 21546498 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC100289511,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PLD4,PLEKHD1,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAD51B,RBM25,RCOR1,RD3L,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZNF410,ZNF839 chr14 68331711 106242479 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1034K arrays 21546498 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC100289511,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PLD4,PLEKHD1,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAD51B,RBM25,RCOR1,RD3L,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZNF410,ZNF839 chr14 68332264 68332764 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68332264 68332764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr1 46837321 47690480 LOH Normal High-resolution SNP genotyping 21211785 ATPAF1,ATPAF1-AS1,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DMBX1,FAAH,KIAA0494,KIAA0494-AS1,KNCN,LOC729041,MKNK1,MKNK1-AS1,MOB3C,PDZK1IP1,PDZK1IP1-AS1,TAL1 chr14 68379637 106154420 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1030K arrays 21546498 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC100289511,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PLD4,PLEKHD1,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RAD51B,RBM25,RCOR1,RD3L,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFP36L1,ZFYVE1,ZFYVE21,ZNF410,ZNF839 chr14 68394530 68394614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD51B chr14 68398203 68398995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68398232 68398995 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68408332 68409332 Gain Chordoma References 21215367 RAD51B chr14 68410793 68515747 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68410793 68515763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68410793 68515763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68455717 68455812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD51B chr1 46845974 46855150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46845974 46855150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 68461926 69824070 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTN1,DCAF5,EXD2,GALNTL1,RAD51B,ZFP36L1 chr1 46849520 46851269 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 46852126 246794522 Duplication or deletion Rett syndrome References 21593744 ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACBD3,ACBD6,ACOT11,ACP6,ACTA1,ACTG1P4,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADSS,AGBL4,AGL,AGT,AHCYL1,AIDA,AIM2,AK4,AK5,AKNAD1,AKR7A2P1,AKT3,ALDH9A1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V1G3,ATP8B2,ATPAF1,ATPAF1-AS1,ATXN7L2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BEND5,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BRDT,BROX,BSND,BTBD8,BTF3L4,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf123,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf87,C1orf88,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CAPZA1,CASQ1,CASQ2,CC2D1B,CCBL2,CCDC18,CCDC19,CCSAP,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD53,CD55,CD58,CD5L,CD84,CDC14A,CDC42BPA,CDC42SE1,CDC7,CDC73,CDCP2,CDK18,CDKN2C,CELF3,CELSR2,CENPF,CENPL,CEP170,CEP350,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLK2,CMPK1,CNIH3,CNIH4,CNN3,CNST,CNTN2,COG2,COL11A1,COL24A1,COPA,COX20,CPT2,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSRP1,CTBS,CTH,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYB5RL,CYCSP52,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DDX59,DEDD,DEGS1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DESI2,DHCR24,DHX9,DIEXF,DIO1,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DMBX1,DMRTA2,DMRTB1,DNAH14,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECHDC2,ECM1,EDARADD,EDEM3,EFCAB2,EFCAB7,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELAVL4,ELF3,ELK4,ELTD1,EMBP1,ENAH,ENSA,EPHX1,EPHX4,EPRS,EPS15,EPS8L3,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXTL2,F11R,F13B,F3,F5,FAAH,FAF1,FAIM3,FAM102B,FAM129A,FAM151A,FAM159A,FAM163A,FAM177B,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM46C,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,G0S2,GABPB2,GADD45A,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA5,GJA8,GJC2,GLIS1,GLMN,GLRX2,GLT25D2,GLUL,GM140,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG4,GNG5,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GPX7,GREM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HEATR8,HEATR8-TTC4,HENMT1,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HMGCS2,HNRNPU,HNRNPU-AS1,HOOK1,HORMAD1,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HSPB11,HYDIN2,IARS2,IBA57,IER5,IFI16,IFI44,IFI44L,IGFN1,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL23R,IL24,IL6R,ILDR2,ILF2,INADL,INSL5,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0494,KIAA0494-AS1,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KNCN,KPRP,KRTCAP2,KTI12,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LDLRAD1,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100130000,LOC100130093,LOC100130331,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506795,LOC100506810,LOC100507564,LOC100507634,LOC100527964,LOC148696,LOC148709,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339524,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC645166,LOC646268,LOC646626,LOC653513,LOC728463,LOC728875,LOC728989,LOC729041,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC42,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAB21L3,MAEL,MAGI3,MAGOH,MAN1A2,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MCOLN2,MCOLN3,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGC27382,MGST3,MIA3,MIER1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR3620,MIR3658,MIR3671,MIR4256,MIR4257,MIR4258,MIR4260,MIR4422,MIR4423,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4711,MIR4735,MIR4742,MIR4753,MIR4781,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR664,MIR760,MIR761,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MKNK1,MKNK1-AS1,MLLT11,MNDA,MOB3C,MOV10,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL37,MRPL55,MRPL9,MRPS14,MRPS21,MSH4,MSTO1,MSTO2P,MTF2,MTMR11,MTR,MTX1,MUC1,MYBPH,MYBPHL,MYOC,MYOG,MYSM1,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NGF,NHLH1,NHLH2,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NRAS,NRD1,NSL1,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,ORC1,OSBPL9,OTUD7B,OVGP1,PALMD,PAPPA2,PAQR6,PARP1,PARS2,PBX1,PBXIP1,PCNXL2,PCP4L1,PCSK9,PDC,PDE4B,PDE4DIP,PDIA3P,PDZK1,PDZK1IP1,PDZK1IP1-AS1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIK3C2B,PIN1P1,PIP5K1A,PKLR,PKN2,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,PODN,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPAP2B,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PROX1,PRPF3,PRPF38A,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB4,PSMD4,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTGS2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3B,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RALGPS2,RAP1A,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOC,RHOU,RIIAD1,RIT1,RNASEL,RNF11,RNF115,RNF187,RNF2,RNPC3,RNPEP,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL31P11,RPL5,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RSBN1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA3,SCARNA4,SCNM1,SCP2,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SELRC1,SEMA4A,SEMA6C,SEP15,SERBP1,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SKINTL,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC30A7,SLC35A3,SLC35D1,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A3,SLC50A1,SLC5A9,SLC6A17,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA66,SNORA77,SNORD21,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPATA6,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRG7,SRGAP2,SRGAP2B,SRP9,SRSF11,SSBP3,SSR2,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYPL2,SYT11,SYT14,SYT2,SYT6,TACSTD2,TADA1,TAF13,TAF1A,TAF5L,TAGLN2,TAL1,TARBP1,TARS2,TATDN3,TBCE,TBX15,TBX19,TCEANC2,TCHH,TCHHL1,TCTEX1D1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,TGFBR3,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMED5,TMEM167B,TMEM183A,TMEM183B,TMEM206,TMEM48,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRABD2B,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM67,TRMT13,TRMT1L,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN2,TSTD1,TTC13,TTC22,TTC24,TTC39A,TTC4,TTF2,TTLL7,TUFT1,TXNDC12,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2T,UBE2U,UBL4B,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,UOX,URB2,USF1,USH2A,USP1,USP21,USP24,USP33,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR26,WDR3,WDR47,WDR63,WDR64,WDR77,WDR78,WLS,WNT2B,WNT3A,WNT9A,XCL1,XCL2,XPR1,YIPF1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZCCHC11,ZFYVE9,ZNF238,ZNF281,ZNF326,ZNF644,ZNF648,ZNF678,ZNF687,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZYG11A,ZYG11B,ZZZ3 chr1 46852853 46896756 Gain and loss Pancreatic cancer SNP array 17952125 FAAH chr14 68558330 68567966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAD51B chr14 68560836 68602144 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 RAD51B chr14 68563964 68576512 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAD51B chr14 68587395 68689502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68587395 68689502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68592976 68869559 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RAD51B chr14 68594683 68627011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAD51B chr1 46861486 46861533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAAH chr14 68619868 68620224 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68625677 68689453 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68647437 68647537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD51B chr14 68680322 68680423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68680324 68680423 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr1 46871000 46906686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAAH,LOC729041 chr1 46871000 46906686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAAH,LOC729041 chr1 46871946 46872189 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAAH chr14 68727981 68778828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68727981 68778828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68727999 68778826 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68742262 68742356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD51B chr14 68763265 83162265 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,C14orf178,CCDC176,CEP128,COQ6,COX16,DCAF4,DCAF5,DIO2,DIO2-AS1,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ERH,ESRRB,EXD2,FAM161B,FCF1,FLVCR2,FOS,GALNTL1,GPATCH2L,GSTZ1,GTF2A1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0247,KIAA0317,KIAA1737,LIN52,LOC100289511,LOC145474,LOC731223,LTBP2,MAP3K9,MED6,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PCNX,PGF,PLEKHD1,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RAD51B,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SEL1L,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SLIRP,SMOC1,SNORA79,SNORD56B,SNW1,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNJ2BP,SYNJ2BP-COX16,TGFB3,TMED10,TMED8,TMEM63C,TSHR,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFP36L1,ZFYVE1,ZNF410 chr14 68796644 68890936 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68796668 68890936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68796668 68890936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr1 46879906 46894689 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 68808436 68842088 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAD51B chr14 68824069 68824169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD51B chr14 68827523 68851770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAD51B chr14 68878990 68879022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD51B chr14 68893488 69446360 LOH Normal High-resolution SNP genotyping 21211785 ACTN1,RAD51B,ZFP36L1 chr14 68916601 68934774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68916601 68934774 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68916601 68934774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68935162 68997021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68935162 68997021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr14 68935208 68998851 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 68953523 68953623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD51B chr14 69036583 69064335 Gain and loss Pancreatic cancer SNP array 17952125 RAD51B chr14 69037400 69064862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51B chr1 46904171 46904669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729041 chr14 69072118 69100168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 69078376 69102394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 69084701 69094300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 69086746 69092239 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 69088121 69092220 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 69097484 69097940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69097496 69097940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 46910087 46911836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC729041 chr1 46910087 46911836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729041 chr14 69105879 69132337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 69107236 69107502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 69107969 69110092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 69108321 69108461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 46913420 46957323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46913420 46957323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69148066 69251612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69148066 69251612 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 69148066 69251612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69148295 69148395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 69150329 69161906 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 69173284 69809374 Copy number Lung cancer paired-end sequencing 18438408 ACTN1,DCAF5,EXD2,GALNTL1,ZFP36L1 chr14 69206570 69206655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 69263370 69308474 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 69266000 69440800 Loss Prostate cancer Array CGH 18632612 ACTN1 chr1 46928093 46928178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 69300000 106368585 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf162,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DCAF5,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ERH,ESRRB,EVL,EXD2,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GALNTL1,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0247,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC100289511,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PLD4,PLEKHD1,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RBM25,RCOR1,RD3L,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SIVA1,SLC10A1,SLC24A4,SLC25A29,SLC25A47,SLC39A9,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFYVE1,ZFYVE21,ZNF410,ZNF839 chr14 69300000 72900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTN1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,C14orf162,COX16,DCAF5,ERH,EXD2,GALNTL1,KIAA0247,LOC100289511,LOC145474,MAP3K9,MED6,PCNX,PLEKHD1,RGS6,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SNORD56B,SRSF5,SYNJ2BP,SYNJ2BP-COX16,TTC9 chr14 69300000 72900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTN1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,C14orf162,COX16,DCAF5,ERH,EXD2,GALNTL1,KIAA0247,LOC100289511,LOC145474,MAP3K9,MED6,PCNX,PLEKHD1,RGS6,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SNORD56B,SRSF5,SYNJ2BP,SYNJ2BP-COX16,TTC9 chr14 69300000 72900000 Duplication Heart disease Illumina 628Quad Beadchip platform 21282601 ACTN1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,C14orf162,COX16,DCAF5,ERH,EXD2,GALNTL1,KIAA0247,LOC100289511,LOC145474,MAP3K9,MED6,PCNX,PLEKHD1,RGS6,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SNORD56B,SRSF5,SYNJ2BP,SYNJ2BP-COX16,TTC9 chr14 69300000 82600000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf162,C14orf166B,C14orf169,C14orf178,CCDC176,CEP128,COQ6,COX16,DCAF4,DCAF5,DIO2,DIO2-AS1,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ERH,ESRRB,EXD2,FAM161B,FCF1,FLVCR2,FOS,GALNTL1,GPATCH2L,GSTZ1,GTF2A1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0247,KIAA0317,KIAA1737,LIN52,LOC100289511,LOC145474,LOC731223,LTBP2,MAP3K9,MED6,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PCNX,PGF,PLEKHD1,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SEL1L,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SLIRP,SMOC1,SNORA79,SNORD56B,SNW1,SPTLC2,SRSF5,STON2,SYNDIG1L,SYNJ2BP,SYNJ2BP-COX16,TGFB3,TMED10,TMED8,TMEM63C,TSHR,TTC9,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFYVE1,ZNF410 chr14 69303582 69308475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69303582 69308475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69312305 69333707 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 69312342 69333759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69312342 69333759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69340673 69340801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 69352007 69352336 Gain and loss Pancreatic cancer SNP array 17952125 ACTN1 chr14 69415896 69568836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTN1,DCAF5 chr14 69415896 69568836 Gain and loss Pancreatic cancer SNP array 17952125 ACTN1,DCAF5 chr14 69415896 69568836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTN1,DCAF5 chr14 69421810 69422613 Gain and loss Pancreatic cancer SNP array 17952125 ACTN1 chr14 69444478 69444557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTN1 chr14 69454442 69488391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 69461113 69461404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 69479121 69512929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 69504430 72093615 LOH Normal High-resolution SNP genotyping 21211785 ADAM20,ADAM20P1,ADAM21,ADAM21P1,C14orf162,COX16,DCAF5,ERH,EXD2,GALNTL1,KIAA0247,LOC100289511,LOC145474,MAP3K9,MED6,PCNX,PLEKHD1,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SNORD56B,SRSF5,SYNJ2BP,SYNJ2BP-COX16,TTC9 chr14 69512103 69827532 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCAF5,EXD2,GALNTL1 chr14 69547945 69548044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCAF5 chr14 69580687 69725540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF5,EXD2 chr14 69580687 69725540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF5,EXD2 chr14 69582417 69725343 Gain and loss Pancreatic cancer SNP array 17952125 DCAF5,EXD2 chr14 69603854 69603943 Gain and loss Pancreatic cancer SNP array 17952125 DCAF5 chr14 69603854 69603943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF5 chr1 46960747 46960812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 69680762 69896147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERH,EXD2,GALNTL1,SLC39A9 chr14 69680762 69896147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERH,EXD2,GALNTL1,SLC39A9 chr14 69701476 69733760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EXD2,GALNTL1 chr14 69724001 69726000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 69728173 69728248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL1 chr14 69757586 69759206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNTL1 chr14 69757619 69759169 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GALNTL1 chr14 69759806 69759993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNTL1 chr1 46976762 46997105 Gain and loss Pancreatic cancer SNP array 17952125 DMBX1 chr1 46980453 46981401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 46980633 46980681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 69809390 69809490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL1 chr14 69826978 73688896 Copy number Lung cancer paired-end sequencing 18438408 ADAM20,ADAM20P1,ADAM21,ADAM21P1,C14orf162,COX16,DCAF4,DPF3,ERH,KIAA0247,LOC100289511,LOC145474,MAP3K9,MED6,PCNX,PLEKHD1,PSEN1,RBM25,RGS6,SIPA1L1,SLC10A1,SLC39A9,SLC8A3,SMOC1,SNORD56B,SRSF5,SYNJ2BP,SYNJ2BP-COX16,TTC9,ZFYVE1 chr14 69852463 69852563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERH chr14 69862344 69896163 Gain and loss Pancreatic cancer SNP array 17952125 ERH,SLC39A9 chr14 69868212 69868287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC39A9 chr14 69897362 69897558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A9 chr14 69897367 69897558 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A9 chr14 69897374 69897538 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A9 chr14 69907901 69953497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHD1,SLC39A9 chr14 69907901 69953497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHD1,SLC39A9 chr14 69908627 69953515 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHD1,SLC39A9 chr14 69933880 69933980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 69934501 69936000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 69940574 69940674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 69975880 69976369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHD1 chr14 69993970 69996375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHD1 chr14 69993970 69996375 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHD1 chr14 69993970 69996375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHD1 chr14 70005519 70007629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 70005519 70007629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 70005630 70007578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70032575 70032680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70032577 70032680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70032577 70032680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 70058832 70071485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 70058832 70071485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70058832 70071485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 70092148 70092210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0247 chr14 70107850 71356482 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAM20,ADAM20P1,ADAM21,ADAM21P1,COX16,KIAA0247,LOC100289511,MAP3K9,MED6,SLC10A1,SLC8A3,SMOC1,SRSF5,SYNJ2BP,SYNJ2BP-COX16,TTC9 chr14 70120710 70137137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0247 chr14 70120710 70137137 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0247 chr14 70120710 70137137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0247 chr14 70120762 70121608 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KIAA0247 chr14 70124231 70675464 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KIAA0247,LOC100289511,SLC10A1,SLC8A3,SMOC1,SRSF5 chr14 70124231 72461093 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM20,ADAM20P1,ADAM21,ADAM21P1,COX16,KIAA0247,LOC100289511,LOC145474,MAP3K9,MED6,PCNX,RGS6,SIPA1L1,SLC10A1,SLC8A3,SMOC1,SNORD56B,SRSF5,SYNJ2BP,SYNJ2BP-COX16,TTC9 chr14 70131022 70132298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0247 chr14 70131299 70132128 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0247 chr14 70146556 70146847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0247 chr14 70146559 70146848 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0247 chr14 70146559 70146848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0247 chr14 70178257 70211830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0247 chr14 70178258 70209181 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0247 chr14 70193313 70222186 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 47020787 47078129 Gain and loss Pancreatic cancer SNP array 17952125 MKNK1,MKNK1-AS1,MOB3C chr14 70234979 70235079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRSF5 chr14 70264605 70345641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 70264605 70345641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 70264746 70345641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70281911 106312036 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX16,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DCAF4,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DPF3,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ESRRB,EVL,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC145474,LOC283585,LOC283587,LOC731223,LTBP2,MAP3K9,MARK3,MED6,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPLN,PAPOLA,PCNX,PGF,PLD4,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSEN1,PSMC1,PTGR2,PTPN21,RBM25,RCOR1,RD3L,RGS6,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIPA1L1,SIVA1,SLC24A4,SLC25A29,SLC25A47,SLC8A3,SLIRP,SMEK1,SMOC1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNORD56B,SNW1,SPATA7,SPTLC2,STON2,SYNDIG1L,SYNE3,SYNJ2BP,SYNJ2BP-COX16,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTC9,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFYVE1,ZFYVE21,ZNF410,ZNF839 chr14 70300894 70300994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47037257 47057605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKNK1 chr1 47037257 47057605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKNK1 chr14 70382042 70382142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMOC1 chr14 70383458 70383558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMOC1 chr14 70384885 70396194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMOC1 chr14 70390714 70391006 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMOC1 chr14 70416509 70416599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMOC1 chr14 70422757 70422857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMOC1 chr14 70433834 70433934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMOC1 chr14 70443875 70646623 Gain and loss Pancreatic cancer SNP array 17952125 SLC8A3,SMOC1 chr14 70443875 70651852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC8A3,SMOC1 chr14 70443875 70651852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC8A3,SMOC1 chr14 70488635 70488692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMOC1 chr14 70490645 70490677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMOC1 chr14 70507581 70507913 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 70514920 70545640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC8A3 chr1 47051880 47065360 Amplification or deletion Cancer Array CGH 17440070 MKNK1 chr14 70527744 70561939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC8A3 chr1 47055993 47068677 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 MKNK1 chr14 70565493 70565543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A3 chr14 70567247 70567347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A3 chr14 70579049 70579149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A3 chr14 70586263 70586321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A3 chr14 70605106 70605309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC8A3 chr14 70620501 70621500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC8A3 chr14 70716720 70731209 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 70717417 70717517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 70728006 70845546 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 COX16,SYNJ2BP,SYNJ2BP-COX16 chr14 70752161 70752260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 70752784 70753344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70759711 70760017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 70767501 70769500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 70773899 70773970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70789981 70790081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 70792851 70792922 Gain and loss Pancreatic cancer SNP array 17952125 COX16,SYNJ2BP-COX16 chr14 70840238 72356586 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADAM20,ADAM20P1,ADAM21,LOC145474,MAP3K9,MED6,PCNX,SIPA1L1,SNORD56B,SYNJ2BP,SYNJ2BP-COX16,TTC9 chr14 70880780 70880880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNJ2BP,SYNJ2BP-COX16 chr14 70934807 70934877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70934807 70934877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 70960000 71230000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 ADAM20,MAP3K9,MED6,TTC9 chr1 47096017 47149704 Amplification or deletion Cancer Array CGH 17440070 ATPAF1,ATPAF1-AS1,KIAA0494,KIAA0494-AS1 chr1 47096493 47138734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATPAF1,ATPAF1-AS1 chr1 47096493 47138734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATPAF1,ATPAF1-AS1 chr14 70985159 70985428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 70985159 70985428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 71000626 71007491 Gain and loss Pancreatic cancer SNP array 17952125 ADAM20 chr14 71018339 71050394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 71034783 71034883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 71065795 71275871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K9,MED6,TTC9 chr14 71065795 71275871 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K9,MED6,TTC9 chr14 71065795 71275871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K9,MED6,TTC9 chr1 47106926 47119437 Gain and loss Pancreatic cancer SNP array 17952125 ATPAF1 chr14 71119336 71119436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC9 chr14 71162133 71162233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 71175267 71266409 Gain aortic dissecting aneurysms Array-CGH 22263138 MAP3K9 chr14 71197322 71197381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K9 chr14 71217551 71217837 Gain Normal 244K array 17666407 MAP3K9 chr14 71275321 71275365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K9 chr1 47129888 47131073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATPAF1 chr14 71330331 71375316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNX chr14 71336709 71336848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 71364733 71364833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47139266 47139433 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr14 71397435 71428407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNX chr14 71419342 71465572 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCNX chr14 71446724 71446803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNX chr14 71501247 72102990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC145474,PCNX,SIPA1L1,SNORD56B chr14 71501247 72102990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC145474,PCNX,SIPA1L1,SNORD56B chr14 71501262 72099211 Gain and loss Pancreatic cancer SNP array 17952125 LOC145474,PCNX,SIPA1L1,SNORD56B chr14 71519244 72461093 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC145474,PCNX,RGS6,SIPA1L1,SNORD56B chr14 71527012 71527395 Gain and loss Pancreatic cancer SNP array 17952125 PCNX chr14 71558877 71558986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCNX chr14 71558879 71558984 Gain and loss Pancreatic cancer SNP array 17952125 PCNX chr14 71558879 71558986 Gain and loss Pancreatic cancer SNP array 17952125 PCNX chr14 71560547 71560596 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCNX chr14 71642538 71642638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47167433 47179743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0494 chr14 71695915 71696007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 71714279 73735385 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DCAF4,DPF3,LOC145474,PAPLN,PSEN1,RBM25,RGS6,SIPA1L1,SNORD56B,ZFYVE1 chr14 71752669 73068547 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 LOC145474,RGS6,SIPA1L1,SNORD56B chr14 71851641 71870813 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNORD56B chr14 71875033 71879893 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 71875774 71880551 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 71875774 71880551 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr14 71879713 71915210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 71946112 74874445 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ALDH6A1,C14orf169,CCDC176,COQ6,DCAF4,DNAL1,DPF3,ELMSAN1,ENTPD5,FAM161B,HEATR4,LIN52,LOC145474,MIR4505,NUMB,PAPLN,PNMA1,PSEN1,PTGR2,RBM25,RGS6,SIPA1L1,SYNDIG1L,VRTN,VSX2,ZFYVE1,ZNF410 chr14 71984558 72392319 Gain small cell lung cancer Real-time Quantitative PCR 17426248 SIPA1L1 chr1 4719898 4733607 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AJAP1 chr1 47201260 47228442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 72047953 72071006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIPA1L1 chr14 72048501 72776000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RGS6,SIPA1L1 chr14 72145495 72430562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS6,SIPA1L1 chr14 72145495 72430562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6,SIPA1L1 chr14 72157195 72159235 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SIPA1L1 chr14 72207102 72207202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 72208625 72208725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 72210847 72210947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47231174 47231274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 72323219 75234516 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1036K arrays 21546498 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ALDH6A1,C14orf169,CCDC176,COQ6,DCAF4,DNAL1,DPF3,ELMSAN1,ENTPD5,FAM161B,FCF1,HEATR4,ISCA2,KIAA0317,LIN52,LTBP2,MIR4505,MIR4709,NPC2,NUMB,PAPLN,PNMA1,PSEN1,PTGR2,RBM25,RGS6,SYNDIG1L,VRTN,VSX2,YLPM1,ZFYVE1,ZNF410 chr14 72337245 72337345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 72349712 72690248 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 RGS6 chr14 72389685 72389792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 72389687 72389792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 72402705 72403559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGS6 chr14 72402831 72403424 Loss Normal 244K array 17666407 RGS6 chr14 72448148 72484400 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RGS6 chr1 47245067 47296010 Gain and loss Pancreatic cancer SNP array 17952125 CYP4B1 chr14 72462838 72496109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72462838 72496109 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72462838 72496109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72466073 72466391 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72466073 72466391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72470216 73993089 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 C14orf169,DCAF4,DPF3,HEATR4,NUMB,PAPLN,PSEN1,RBM25,RGS6,ZFYVE1 chr14 72489896 75234516 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1020K arrays 21546498 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ALDH6A1,C14orf169,CCDC176,COQ6,DCAF4,DNAL1,DPF3,ELMSAN1,ENTPD5,FAM161B,FCF1,HEATR4,ISCA2,KIAA0317,LIN52,LTBP2,MIR4505,MIR4709,NPC2,NUMB,PAPLN,PNMA1,PSEN1,PTGR2,RBM25,RGS6,SYNDIG1L,VRTN,VSX2,YLPM1,ZFYVE1,ZNF410 chr14 72505912 72563600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72505912 72563600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72505913 72563600 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72506787 72834048 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 RGS6 chr14 72517409 72621435 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 RGS6 chr14 72528948 72546105 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGS6 chr14 72577080 72577374 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72577080 72577374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72577083 72577375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72595003 72656690 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72595021 72657740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72595021 72657740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72598343 72598590 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72598343 72598590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72615927 72616516 Loss Normal 244K array 17666407 RGS6 chr1 47261827 47289009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4B1 chr1 47261827 47289009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4B1 chr14 72672908 72756862 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RGS6 chr14 72672908 72756862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72672908 72756862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72672915 72756862 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72672931 72756862 Gain or loss Breast cancer - 20668451 RGS6 chr14 72672931 72756862 Gain or loss Cancer - 20668451 RGS6 chr14 72672931 72756862 Gain or loss Lung cancer - 20668451 RGS6 chr14 72672931 72756862 Gain or loss Ovarian cancer - 20668451 RGS6 chr14 72672931 72756862 Gain or loss Pancreas cancer - 20668451 RGS6 chr14 72672931 72756862 Gain or loss Prostate cancer - 20668451 RGS6 chr14 72690248 75471292 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ALDH6A1,C14orf169,CCDC176,COQ6,DCAF4,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,FAM161B,FCF1,HEATR4,ISCA2,KIAA0317,LIN52,LTBP2,MIR4505,MIR4709,NPC2,NUMB,PAPLN,PGF,PNMA1,PROX2,PSEN1,PTGR2,RBM25,RGS6,RPS6KL1,SYNDIG1L,VRTN,VSX2,YLPM1,ZFYVE1,ZNF410 chr1 47277304 47297796 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 CYP4B1 chr14 72773957 72811100 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RGS6 chr14 72773958 72811098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72773958 72811098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72774008 72811098 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72776001 72803500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RGS6 chr14 72783233 72783340 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72783233 72783340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72809358 72810305 Gain Normal 244K array 17666407 RGS6 chr1 47280969 47281069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP4B1 chr14 72811670 72995039 Gain or loss Breast cancer - 20668451 RGS6 chr14 72811670 72995039 Gain or loss Cancer - 20668451 RGS6 chr14 72811670 72995039 Gain or loss Lung cancer - 20668451 RGS6 chr14 72811670 72995039 Gain or loss Ovarian cancer - 20668451 RGS6 chr14 72811670 72995039 Gain or loss Pancreas cancer - 20668451 RGS6 chr14 72811670 72995039 Gain or loss Prostate cancer - 20668451 RGS6 chr14 72811670 72995039 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RGS6 chr14 72811671 72892230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72811671 72892230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 72811680 72995005 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 72832854 72832944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS6 chr14 72900000 78400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,COQ6,DCAF4,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ESRRB,FAM161B,FCF1,FLVCR2,FOS,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0317,KIAA1737,LIN52,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NUMB,PAPLN,PGF,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SLIRP,SNW1,SPTLC2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFYVE1,ZNF410 chr14 72900000 78400000 Copy number Normal - 21701786 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,COQ6,DCAF4,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ESRRB,FAM161B,FCF1,FLVCR2,FOS,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0317,KIAA1737,LIN52,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NUMB,PAPLN,PGF,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SLIRP,SNW1,SPTLC2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFYVE1,ZNF410 chr14 72900000 78400000 Deletion Biliary cancer Array CGH 19435499 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,COQ6,DCAF4,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ESRRB,FAM161B,FCF1,FLVCR2,FOS,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0317,KIAA1737,LIN52,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NUMB,PAPLN,PGF,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SLIRP,SNW1,SPTLC2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFYVE1,ZNF410 chr14 72900000 78400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,COQ6,DCAF4,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ESRRB,FAM161B,FCF1,FLVCR2,FOS,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0317,KIAA1737,LIN52,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NUMB,PAPLN,PGF,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SLIRP,SNW1,SPTLC2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFYVE1,ZNF410 chr14 72900000 78400000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,COQ6,DCAF4,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ESRRB,FAM161B,FCF1,FLVCR2,FOS,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0317,KIAA1737,LIN52,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NUMB,PAPLN,PGF,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SLIRP,SNW1,SPTLC2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFYVE1,ZNF410 chr14 72900000 88900000 Loss Breast cancer Array CGH 16608533 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,CEP128,COQ6,DCAF4,DIO2,DIO2-AS1,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,ENTPD5,ESRRB,FAM161B,FCF1,FLRT2,FLVCR2,FOS,GALC,GPATCH2L,GPR65,GSTZ1,GTF2A1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KCNK10,KIAA0317,KIAA1737,LIN52,LOC283585,LOC283587,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PGF,PNMA1,POMT2,PROX2,PSEN1,PTGR2,RBM25,RGS6,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SEL1L,SLIRP,SNORA79,SNW1,SPATA7,SPTLC2,STON2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TSHR,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZFYVE1,ZNF410 chr14 72942558 72943405 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 RGS6 chr14 72956327 72956427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS6 chr14 72985548 72985644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 73012944 73038822 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RGS6 chr14 73014944 73095404 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 RGS6 chr14 73014949 73095404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 73014949 73095404 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 73014949 73095404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 73021163 73023157 Amplification Medulloblastoma Illumina SNP arrays 21163964 RGS6 chr14 73027001 73028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RGS6 chr14 73027423 73029851 Gain and loss Pancreatic cancer SNP array 17952125 RGS6 chr14 73027476 73029400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS6 chr14 73028501 73275000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPF3,RGS6 chr14 73030050 73196823 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DPF3,RGS6 chr14 73032597 73032681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS6 chr14 73050601 73054300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 73051786 73066872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 73055030 73101219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 47305634 47356577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4Z2P chr1 47305634 47356577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4Z2P chr14 73061232 73096692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 73064027 73102540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 73064141 73121720 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 73064255 73105589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 73064475 73118811 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr14 73064475 73119942 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr14 73064925 73118811 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr14 73065210 73146732 Copy number Normal Birdsuite, version 1.5.2 22087296 DPF3 chr14 73065434 73096478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 73065515 73101245 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 73066001 73095000 Loss Normal TaqMan assays 20972442 NOT_FOUND chr14 73066699 73086276 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 73066699 73086276 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr14 73068547 74135997 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACOT1,ACOT2,ACOT4,ACOT6,C14orf169,DCAF4,DNAL1,DPF3,HEATR4,NUMB,PAPLN,PSEN1,RBM25,ZFYVE1 chr14 73070864 73115133 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73070876 73090732 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73070876 73090732 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 73070876 73090732 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 73070876 73099653 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73070876 73099668 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73070876 73126284 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73071433 73128092 Loss or gain Normal 244K array 17666407 NOT_FOUND chr14 73071536 73073419 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 73073571 73080206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73073571 73080206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 73073571 73080206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73073630 73111502 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr14 73075681 73099668 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73075682 73099655 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr14 73075682 73099655 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr14 73076460 73099653 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73076460 73099668 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73076604 73099653 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73076604 73099668 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73076724 73108632 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr14 73080963 73120755 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 73080963 73120755 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 73080963 73123255 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 73080963 73123255 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 73087262 73090720 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 73096748 73107553 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 73101243 73120017 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 73105516 73112110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 73105524 73112112 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr14 73105698 73112110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73105698 73112110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73125282 73125354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 73125282 73125354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73126255 89981048 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.17 20877625 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,CEP128,COQ6,DCAF4,DIO2,DIO2-AS1,DLST,DNAL1,DPF3,EIF2B2,ELMSAN1,EML5,ENTPD5,ESRRB,FAM161B,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,GALC,GPATCH2L,GPR65,GSTZ1,GTF2A1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KCNK10,KIAA0317,KIAA1737,LIN52,LOC283585,LOC283587,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PAPLN,PGF,PNMA1,POMT2,PROX2,PSEN1,PTGR2,PTPN21,RBM25,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SEL1L,SLIRP,SNORA79,SNW1,SPATA7,SPTLC2,STON2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TSHR,TTC8,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZC3H14,ZDHHC22,ZFYVE1,ZNF410 chr14 73128163 73132221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73128163 73132221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73128394 73132221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 47313050 47314238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4Z2P chr1 47315147 47326489 Gain and loss Pancreatic cancer SNP array 17952125 CYP4Z2P chr14 73153301 73156345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73153301 73156345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73154780 73155088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DPF3 chr14 73174849 73174934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPF3 chr14 73181455 73232937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73181455 73232937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73181455 73234199 Gain and loss Pancreatic cancer SNP array 17952125 DPF3 chr14 73248238 73250881 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 DPF3 chr14 73249034 73250095 Gain and loss Pancreatic cancer SNP array 17952125 DPF3 chr14 73249034 73250095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73251579 73255246 Gain and loss Pancreatic cancer SNP array 17952125 DPF3 chr14 73251579 73296745 Gain and loss Pancreatic cancer SNP array 17952125 DPF3 chr14 73251587 73323649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73251587 73323649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73252481 73252713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73275001 73283500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPF3 chr14 73283501 73299000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPF3 chr14 73292130 73292230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPF3 chr14 73298237 73298337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPF3 chr14 73303941 73333772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPF3 chr14 73309548 73316689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DPF3 chr14 73309902 73315434 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DPF3 chr14 73335471 73335573 Gain and loss Pancreatic cancer SNP array 17952125 DPF3 chr14 73335471 73335573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF3 chr14 73360509 73360609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPF3 chr14 73388381 73421915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF4 chr14 73388381 73421915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF4 chr14 73388424 73421915 Gain and loss Pancreatic cancer SNP array 17952125 DCAF4 chr14 73394515 73394621 Gain and loss Pancreatic cancer SNP array 17952125 DCAF4 chr14 73394517 73394621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF4 chr14 73394524 73394621 Gain and loss Pancreatic cancer SNP array 17952125 DCAF4 chr14 73423261 73468734 Gain and loss Pancreatic cancer SNP array 17952125 DCAF4,ZFYVE1 chr14 73423327 73468733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF4,ZFYVE1 chr14 73423327 73468733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF4,ZFYVE1 chr14 73435048 73476803 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZFYVE1 chr14 73442772 73442883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE1 chr14 73442774 73442883 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE1 chr14 73442777 73442883 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE1 chr14 73462168 73475784 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZFYVE1 chr14 73470458 73486588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE1 chr14 73470458 73486588 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE1 chr14 73470458 73486588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE1 chr14 73486396 73499564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE1 chr14 73486396 73499564 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE1 chr14 73486396 73499564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE1 chr14 73487776 73532481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBM25,ZFYVE1 chr14 73502936 73552387 Gain and loss Pancreatic cancer SNP array 17952125 RBM25 chr14 73502946 73552387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM25 chr14 73502946 73552387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM25 chr14 73555873 73602546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM25 chr14 73555873 73602546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM25 chr14 73582542 73602546 Gain and loss Pancreatic cancer SNP array 17952125 RBM25 chr14 73586157 73611473 Loss Autism Exome sequencing and CGH 22495309 PSEN1,RBM25 chr14 73591593 73613306 Gain and loss Pancreatic cancer SNP array 17952125 PSEN1 chr14 73595824 73596181 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 73595824 73596181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73596634 73620949 Gain and loss Pancreatic cancer SNP array 17952125 PSEN1 chr14 73596644 73620949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSEN1 chr14 73596644 73620949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSEN1 chr1 47361281 47367791 Gain and loss Pancreatic cancer SNP array 17952125 CYP4Z2P chr14 73621419 73736870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPLN,PSEN1 chr14 73621419 73736870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPLN,PSEN1 chr14 73622800 73752126 Amplification Medulloblastoma Illumina SNP arrays 21163964 NUMB,PAPLN,PSEN1 chr14 73627869 73627941 Gain and loss Pancreatic cancer SNP array 17952125 PSEN1 chr14 73627869 73627941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSEN1 chr14 73630425 73630510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PSEN1 chr14 73704296 73812831 Copy number Lung cancer paired-end sequencing 18438408 NUMB,PAPLN chr14 73710912 73711207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPLN chr14 73710912 73711209 Gain and loss Pancreatic cancer SNP array 17952125 PAPLN chr14 73710912 73711209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPLN chr14 73734262 73734351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAPLN chr14 73750501 73775500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NUMB chr14 73756388 73756529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUMB chr1 47375694 47388000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 47375694 47388000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 73775501 73777500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NUMB chr14 73775928 73799187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUMB chr14 73775928 73799187 Gain and loss Pancreatic cancer SNP array 17952125 NUMB chr14 73775928 73799187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUMB chr14 73777501 73951000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HEATR4,NUMB chr14 73800000 107349540 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADAM6,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ESRRB,EVL,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0125,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00221,LINC00226,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,LOC731223,LTBP2,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,NUMB,OTUB2,PACS2,PAPOLA,PGF,PLD4,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSMC1,PTGR2,PTPN21,RCOR1,RD3L,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SLIRP,SMEK1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNW1,SPATA7,SPTLC2,STON2,SYNDIG1L,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFYVE21,ZNF410,ZNF839 chr14 73800000 79300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,COQ6,DLST,DNAL1,EIF2B2,ELMSAN1,ENTPD5,ESRRB,FAM161B,FCF1,FLVCR2,FOS,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0317,KIAA1737,LIN52,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PGF,PNMA1,POMT2,PROX2,PTGR2,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SLIRP,SNW1,SPTLC2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZNF410 chr14 73800000 79300000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,AHSA1,ALDH6A1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf169,C14orf178,CCDC176,COQ6,DLST,DNAL1,EIF2B2,ELMSAN1,ENTPD5,ESRRB,FAM161B,FCF1,FLVCR2,FOS,GPATCH2L,GSTZ1,HEATR4,IFT43,IRF2BPL,ISCA2,ISM2,JDP2,KIAA0317,KIAA1737,LIN52,LOC731223,LTBP2,MIR1260A,MIR4505,MIR4709,MLH3,NEK9,NGB,NOXRED1,NPC2,NRXN3,NUMB,PGF,PNMA1,POMT2,PROX2,PTGR2,RNU6-19,RNU6-6,RPS6KL1,SAMD15,SLIRP,SNW1,SPTLC2,SYNDIG1L,TGFB3,TMED10,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,VRTN,VSX2,YLPM1,ZC2HC1C,ZDHHC22,ZNF410 chr14 73814389 73814870 Gain and loss Pancreatic cancer SNP array 17952125 NUMB chr14 73821733 73839512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUMB chr14 73821733 73839512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUMB chr14 73821902 73839448 Gain and loss Pancreatic cancer SNP array 17952125 NUMB chr14 73828424 105358628 Copy number Lung cancer paired-end sequencing 18438408 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,ADSSL1,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf166B,C14orf169,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX8C,CPSF2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELMSAN1,EML1,EML5,ENTPD5,ESRRB,EVL,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPATCH2L,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,KCNK10,KCNK13,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,LOC731223,LTBP2,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUMB,OTUB2,PAPOLA,PGF,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSMC1,PTGR2,PTPN21,RCOR1,RD3L,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SLIRP,SMEK1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNW1,SPATA7,SPTLC2,STON2,SYNDIG1L,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TGFB3,TMED10,TMED8,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFYVE21,ZNF410,ZNF839 chr14 73873261 73951823 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HEATR4,NUMB chr14 73878908 73885423 Amplification Medulloblastoma Illumina SNP arrays 21163964 NUMB chr14 73884919 73896461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUMB chr14 73884919 73896461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUMB chr14 73884948 73896461 Gain and loss Pancreatic cancer SNP array 17952125 NUMB chr14 73902810 73936764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUMB chr14 73914179 73915059 Gain and loss Pancreatic cancer SNP array 17952125 NUMB chr14 73914179 73915059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUMB chr1 47393984 47407463 Gain and loss Pancreatic cancer SNP array 17952125 CYP4A11 chr14 73942349 73962558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf169,HEATR4 chr14 73942349 73962558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf169,HEATR4 chr14 73943997 73946044 Gain and loss Pancreatic cancer SNP array 17952125 HEATR4 chr14 73945269 73946267 Gain Normal 244K array 17666407 HEATR4 chr1 47396273 47932655 LOH Normal High-resolution SNP genotyping 21211785 CMPK1,CYP4A11,CYP4A22,CYP4X1,CYP4Z1,FOXD2,FOXD2-AS1,FOXE3,PDZK1IP1,PDZK1IP1-AS1,STIL,TAL1 chr14 73966527 73966611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEATR4 chr14 74002707 74017311 Substitutions and indels small cell lung cancer array-CGH 20016488 ACOT1,HEATR4 chr14 74003876 75056332 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ABCD4,ACOT1,ACOT2,ACOT4,ACOT6,ALDH6A1,CCDC176,COQ6,DNAL1,ELMSAN1,ENTPD5,FAM161B,HEATR4,ISCA2,LIN52,LTBP2,MIR4505,MIR4709,NPC2,PNMA1,PTGR2,SYNDIG1L,VRTN,VSX2,ZNF410 chr14 74016397 74029837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEATR4 chr14 74016397 74029837 Gain and loss Pancreatic cancer SNP array 17952125 HEATR4 chr14 74016397 74029837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR4 chr14 74022207 105356475 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCD4,ACOT2,ACOT4,ACOT6,ACYP1,ADCK1,ADSSL1,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf166B,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX8C,CPSF2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELMSAN1,EML1,EML5,ENTPD5,ESRRB,EVL,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPATCH2L,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HEATR4,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JDP2,KCNK10,KCNK13,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,LOC731223,LTBP2,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,OTUB2,PAPOLA,PGF,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSMC1,PTGR2,PTPN21,RCOR1,RD3L,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SLIRP,SMEK1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNW1,SPATA7,SPTLC2,STON2,SYNDIG1L,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TGFB3,TMED10,TMED8,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFYVE21,ZNF410,ZNF839 chr1 47402769 47404179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4A11 chr14 74030216 74031456 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 74030216 74031816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 74034640 74148787 Gain and loss Pancreatic cancer SNP array 17952125 ACOT2,ACOT4,ACOT6,DNAL1 chr14 74034642 74148787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT2,ACOT4,ACOT6,DNAL1 chr14 74037001 74174000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACOT2,ACOT4,ACOT6,DNAL1 chr14 74039781 74073889 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ACOT2,ACOT4 chr14 74166687 106356482 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCD4,ACYP1,ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALDH6A1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf166B,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC176,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COQ6,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DLST,DNAL1,DYNC1H1,EFCAB11,EIF2B2,EIF5,ELK2AP,ELMSAN1,EML1,EML5,ENTPD5,ESRRB,EVL,EXOC3L4,FAM161B,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISCA2,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0284,KIAA0317,KIAA1737,KIF26A,KLC1,LGMN,LIN52,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,LOC731223,LTBP2,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4505,MIR4709,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,MOK,MTA1,NDUFB1,NEK9,NGB,NOXRED1,NPC2,NRDE2,NRXN3,NUDT14,OTUB2,PACS2,PAPOLA,PGF,PLD4,PNMA1,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PROX2,PSMC1,PTGR2,PTPN21,RCOR1,RD3L,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SLIRP,SMEK1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNW1,SPATA7,SPTLC2,STON2,SYNDIG1L,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED10,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,VRTN,VSX2,WARS,WDR20,WDR25,XRCC3,YLPM1,YY1,ZBTB42,ZC2HC1C,ZC3H14,ZDHHC22,ZFYVE21,ZNF410,ZNF839 chr14 74169330 74766739 LOH Normal High-resolution SNP genotyping 21211785 ABCD4,ALDH6A1,CCDC176,COQ6,DNAL1,ELMSAN1,ENTPD5,FAM161B,LIN52,MIR4505,PNMA1,PTGR2,VSX2,ZNF410 chr1 47416974 47417070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47417001 47474000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 74186527 74186740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELMSAN1 chr14 74186560 74186667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELMSAN1 chr14 74189635 74249564 Gain and loss Pancreatic cancer SNP array 17952125 ELMSAN1,MIR4505 chr14 74193669 74193769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELMSAN1 chr14 74197707 74249560 Gain or loss Breast cancer - 20668451 ELMSAN1,MIR4505 chr14 74197707 74249560 Gain or loss Cancer - 20668451 ELMSAN1,MIR4505 chr14 74197707 74249560 Gain or loss Lung cancer - 20668451 ELMSAN1,MIR4505 chr14 74197707 74249560 Gain or loss Ovarian cancer - 20668451 ELMSAN1,MIR4505 chr14 74197707 74249560 Gain or loss Pancreas cancer - 20668451 ELMSAN1,MIR4505 chr14 74197707 74249560 Gain or loss Prostate cancer - 20668451 ELMSAN1,MIR4505 chr14 74197708 74249560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMSAN1,MIR4505 chr14 74202726 74816646 LOH Normal High-resolution SNP genotyping 21211785 ABCD4,ALDH6A1,CCDC176,COQ6,ELMSAN1,ENTPD5,FAM161B,LIN52,MIR4505,PTGR2,VRTN,VSX2,ZNF410 chr1 47421847 47428358 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 47421848 47429303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 47421848 47429303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 74219747 74249554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMSAN1,MIR4505 chr1 47422791 47422871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 74248376 74248501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMSAN1 chr14 74249602 74273170 Gain and loss Pancreatic cancer SNP array 17952125 ELMSAN1 chr14 74249602 74273250 Duplication Normal References 22138850 ELMSAN1 chr14 74249603 74273136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELMSAN1 chr14 74249603 74273136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMSAN1 chr14 74254527 74254569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 74261430 74261515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47427869 47491807 Gain and loss Pancreatic cancer SNP array 17952125 CYP4X1 chr14 74299822 74373765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTGR2,ZNF410 chr14 74299946 74372615 Gain and loss Pancreatic cancer SNP array 17952125 PTGR2,ZNF410 chr14 74317869 74594847 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1026K arrays 21546498 ALDH6A1,CCDC176,COQ6,ENTPD5,FAM161B,LIN52,PTGR2,ZNF410 chr14 74337931 74338016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTGR2 chr14 74348792 75273500 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCD4,ALDH6A1,CCDC176,COQ6,ENTPD5,FAM161B,FCF1,ISCA2,KIAA0317,LIN52,LTBP2,MIR4709,NPC2,PTGR2,SYNDIG1L,VRTN,VSX2,YLPM1,ZNF410 chr14 74371027 74417163 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COQ6,FAM161B,ZNF410 chr14 74375704 74375804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF410 chr14 74390604 74400290 Gain and loss Pancreatic cancer SNP array 17952125 FAM161B,ZNF410 chr14 74390604 74400290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM161B,ZNF410 chr1 47440000 47479000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr14 74418372 74440196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COQ6,ENTPD5 chr14 74418372 74440196 Gain and loss Pancreatic cancer SNP array 17952125 COQ6,ENTPD5 chr14 74418372 74440196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COQ6,ENTPD5 chr14 74434815 75141034 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCD4,ALDH6A1,CCDC176,ENTPD5,ISCA2,KIAA0317,LIN52,LTBP2,MIR4709,NPC2,SYNDIG1L,VRTN,VSX2 chr14 74440410 74459699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTPD5 chr14 74440410 74459699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTPD5 chr14 74442001 74449000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENTPD5 chr14 74442100 74459711 Gain and loss Pancreatic cancer SNP array 17952125 ENTPD5 chr14 74449001 74488000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC176,ENTPD5 chr14 74478293 74492044 Gain and loss Pancreatic cancer SNP array 17952125 CCDC176,ENTPD5 chr14 74478293 74492220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC176,ENTPD5 chr14 74478293 74492220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC176,ENTPD5 chr14 74488001 74493500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC176 chr14 74493501 74522000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC176 chr14 74538029 74538107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALDH6A1 chr14 74539365 74546045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH6A1 chr14 74539365 74546045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH6A1 chr14 74539399 74546045 Gain and loss Pancreatic cancer SNP array 17952125 ALDH6A1 chr1 47454550 47469974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 47454550 47469974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 47454550 47470479 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 47454550 47470479 Gain or loss Cancer - 20668451 NOT_FOUND chr1 47454550 47470479 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 47454550 47470479 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 47454550 47470479 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 47454550 47470479 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 74550219 74587988 Loss Renal cell carcinoma Affymetrix GeneChip Human Mapping 10K Array 18592004 ALDH6A1,LIN52 chr14 74550220 74587988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH6A1,LIN52 chr14 74550220 74587988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH6A1,LIN52 chr14 74553239 74587886 Gain and loss Pancreatic cancer SNP array 17952125 LIN52 chr14 74557217 74557320 Gain and loss Pancreatic cancer SNP array 17952125 LIN52 chr14 74557217 74557323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN52 chr14 74589683 74600489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIN52 chr14 74589683 74600489 Gain and loss Pancreatic cancer SNP array 17952125 LIN52 chr14 74589683 74600489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN52 chr14 74606052 74614551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIN52 chr14 74606052 74614551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN52 chr14 74606108 74614544 Gain and loss Pancreatic cancer SNP array 17952125 LIN52 chr14 74618575 74663483 Gain and loss Pancreatic cancer SNP array 17952125 LIN52 chr14 74618575 74663483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIN52 chr14 74651515 74651570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIN52 chr14 74655965 74710107 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LIN52,VSX2 chr14 74667926 74713045 Gain and loss Pancreatic cancer SNP array 17952125 VSX2 chr14 74667926 74713102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VSX2 chr14 74667926 74713102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VSX2 chr1 47467454 47552406 Amplification Adenocarcinoma FISH 19001599 CYP4X1,CYP4Z1 chr1 47467454 47552406 Amplification Non-small cell lung cancer FISH 19001599 CYP4X1,CYP4Z1 chr1 47467454 47552406 Amplification Squamous cell cancer FISH 19001599 CYP4X1,CYP4Z1 chr1 47467454 47552406 Gain or loss Breast cancer - 20668451 CYP4X1,CYP4Z1 chr1 47467454 47552406 Gain or loss Cancer - 20668451 CYP4X1,CYP4Z1 chr1 47467454 47552406 Gain or loss Lung cancer - 20668451 CYP4X1,CYP4Z1 chr1 47467454 47552406 Gain or loss Ovarian cancer - 20668451 CYP4X1,CYP4Z1 chr1 47467454 47552406 Gain or loss Pancreas cancer - 20668451 CYP4X1,CYP4Z1 chr1 47467454 47552406 Gain or loss Prostate cancer - 20668451 CYP4X1,CYP4Z1 chr14 74711956 74712034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VSX2 chr14 74738549 74738625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 74738549 74738625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 74747770 74775717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABCD4 chr14 74758901 74937097 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCD4,SYNDIG1L,VRTN chr14 74766327 74766420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCD4 chr14 74814001 74818000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VRTN chr14 74815283 74818665 Amplification Adenocarcinoma FISH 19001599 VRTN chr14 74815283 74818665 Amplification Non-small cell lung cancer FISH 19001599 VRTN chr14 74815283 74818665 Amplification Squamous cell cancer FISH 19001599 VRTN chr14 74815283 74818665 Gain or loss Breast cancer - 20668451 VRTN chr14 74815283 74818665 Gain or loss Cancer - 20668451 VRTN chr14 74815283 74818665 Gain or loss Lung cancer - 20668451 VRTN chr14 74815283 74818665 Gain or loss Ovarian cancer - 20668451 VRTN chr14 74815283 74818665 Gain or loss Pancreas cancer - 20668451 VRTN chr14 74815283 74818665 Gain or loss Prostate cancer - 20668451 VRTN chr14 74815284 74818685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VRTN chr14 74815284 74818685 Gain and loss Pancreatic cancer SNP array 17952125 VRTN chr14 74815284 74818685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VRTN chr14 74818001 75198000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FCF1,ISCA2,KIAA0317,LTBP2,MIR4709,NPC2,SYNDIG1L,VRTN chr14 74828562 74830769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 74828562 74830769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 47486248 47501675 Gain Normal Birdsuite, version 1.5.2 22087296 CYP4X1 chr14 74868024 75768064 LOH Normal High-resolution SNP genotyping 21211785 ACYP1,DLST,EIF2B2,FCF1,FOS,ISCA2,KIAA0317,LOC731223,LTBP2,MIR4709,MLH3,NEK9,NPC2,PGF,PROX2,RPS6KL1,SYNDIG1L,TMED10,YLPM1,ZC2HC1C chr1 47488251 47489374 Gain Normal 244K array 17666407 CYP4X1 chr1 47488398 47552406 Copy number Autism exome sequencing 22495311 CYP4X1,CYP4Z1 chr1 47488398 47552406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4X1,CYP4Z1 chr1 47488398 47552406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4X1,CYP4Z1 chr14 74936311 74936404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 74941999 74942156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 74942145 74942398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 74964231 75006909 Gain or loss Breast cancer - 20668451 LTBP2 chr14 74964231 75006909 Gain or loss Cancer - 20668451 LTBP2 chr14 74964231 75006909 Gain or loss Lung cancer - 20668451 LTBP2 chr14 74964231 75006909 Gain or loss Ovarian cancer - 20668451 LTBP2 chr14 74964231 75006909 Gain or loss Pancreas cancer - 20668451 LTBP2 chr14 74964231 75006909 Gain or loss Prostate cancer - 20668451 LTBP2 chr14 74964813 75006908 Gain and loss Pancreatic cancer SNP array 17952125 LTBP2 chr14 74968590 75006908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LTBP2 chr14 74968590 75006908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBP2 chr14 75021557 75021600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LTBP2 chr14 75033564 75045905 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LTBP2 chr14 75038450 75038482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LTBP2 chr14 75052635 75052734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LTBP2 chr14 75058537 75083086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LTBP2 chr14 75058537 75083086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBP2 chr14 75058540 75083080 Gain and loss Pancreatic cancer SNP array 17952125 LTBP2 chr14 75067722 75067781 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 LTBP2 chr14 75114713 75184244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCF1,KIAA0317 chr14 75114713 75184244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCF1,KIAA0317 chr14 75114713 75184260 Gain and loss Pancreatic cancer SNP array 17952125 FCF1,KIAA0317 chr1 47511608 47556530 Gain and loss Pancreatic cancer SNP array 17952125 CYP4X1,CYP4Z1 chr14 75119925 101621949 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ACYP1,ADCK1,AHSA1,AK7,ALKBH1,ANGEL1,ASB2,ATG2B,ATXN3,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf166B,C14orf177,C14orf178,C14orf64,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CEP128,CHGA,CLMN,COX8C,CPSF2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DLK1,DLST,EFCAB11,EIF2B2,EML1,EML5,ESRRB,EVL,FAM181A,FAM181A-AS1,FBLN5,FCF1,FLRT2,FLVCR2,FOS,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPATCH2L,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HHIPL1,IFI27,IFI27L1,IFI27L2,IFT43,IRF2BPL,ISM2,ITPK1,ITPK1-AS1,JDP2,KCNK10,KCNK13,KIAA0317,KIAA1737,LGMN,LINC00341,LINC00521,LINC00523,LINC00617,LINC00642,LOC100129345,LOC283585,LOC283587,LOC731223,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MLH3,MOAP1,NDUFB1,NEK9,NGB,NOXRED1,NRDE2,NRXN3,OTUB2,PAPOLA,PGF,POMT2,PPP4R4,PRIMA1,PROX2,PSMC1,PTPN21,RIN3,RNU6-19,RNU6-6,RPS6KA5,RPS6KL1,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SLC24A4,SLC25A29,SLC25A47,SLIRP,SMEK1,SNHG10,SNORA11B,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNW1,SPATA7,SPTLC2,STON2,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TGFB3,TMED10,TMED8,TMEM251,TMEM63C,TRIP11,TSHR,TTC7B,TTC8,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,WARS,WDR25,YLPM1,YY1,ZC2HC1C,ZC3H14,ZDHHC22 chr14 75138900 75139000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0317 chr14 75140269 75140374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0317 chr14 75140269 75140389 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0317 chr14 75140270 75140373 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0317 chr1 475171 1142494 Gainb Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100133331,LOC100288069,LOC254099,LOC643837,MIR200A,MIR200B,MIR429,NOC2L,OR4F16,OR4F29,OR4F3,PLEKHN1,RNF223,SAMD11,TNFRSF18,TTLL10 chr14 75185887 75196912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCF1 chr14 75185887 75196912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCF1 chr14 75186990 75196958 Gain and loss Pancreatic cancer SNP array 17952125 FCF1 chr14 75197374 75491174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLST,EIF2B2,FCF1,MLH3,PGF,PROX2,RPS6KL1,YLPM1 chr14 75197374 75491174 Gain and loss Pancreatic cancer SNP array 17952125 DLST,EIF2B2,FCF1,MLH3,PGF,PROX2,RPS6KL1,YLPM1 chr14 75197374 75491174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLST,EIF2B2,FCF1,MLH3,PGF,PROX2,RPS6KL1,YLPM1 chr14 75297498 75303833 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 YLPM1 chr14 75312012 77499847 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACYP1,ANGEL1,BATF,C14orf1,C14orf166B,DLST,EIF2B2,ESRRB,FLVCR2,FOS,GPATCH2L,IFT43,IRF2BPL,JDP2,LOC731223,MLH3,NEK9,PGF,PROX2,RNU6-19,RNU6-6,RPS6KL1,TGFB3,TMED10,TTLL5,VASH1,ZC2HC1C chr14 75328460 75328560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROX2 chr1 47532872 48556325 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CMPK1,CYP4A22,CYP4Z1,FOXD2,FOXD2-AS1,FOXE3,PDZK1IP1,PDZK1IP1-AS1,STIL,TAL1,TRABD2B chr14 75334612 75377217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLST,RPS6KL1 chr14 75403910 75416637 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PGF chr14 75406235 75578523 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACYP1,EIF2B2,MLH3,NEK9,PGF,ZC2HC1C chr14 75406235 78285563 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACYP1,ADCK1,AHSA1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf178,EIF2B2,ESRRB,FLVCR2,FOS,GPATCH2L,GSTZ1,IFT43,IRF2BPL,ISM2,JDP2,KIAA1737,LOC731223,MIR1260A,MLH3,NEK9,NGB,NOXRED1,PGF,POMT2,RNU6-19,RNU6-6,SAMD15,SLIRP,SNW1,SPTLC2,TGFB3,TMED10,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,ZC2HC1C,ZDHHC22 chr14 75460751 75462000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 75471292 75840206 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACYP1,EIF2B2,FOS,LOC731223,MLH3,NEK9,TMED10,ZC2HC1C chr14 75494194 75517845 Gain or loss Breast cancer - 20668451 MLH3 chr14 75494194 75517845 Gain or loss Cancer - 20668451 MLH3 chr14 75494194 75517845 Gain or loss Lung cancer - 20668451 MLH3 chr14 75494194 75517845 Gain or loss Ovarian cancer - 20668451 MLH3 chr14 75494194 75517845 Gain or loss Pancreas cancer - 20668451 MLH3 chr14 75494194 75517845 Gain or loss Prostate cancer - 20668451 MLH3 chr14 75494195 75517242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLH3 chr14 75494195 75517242 Gain and loss Pancreatic cancer SNP array 17952125 MLH3 chr14 75494195 75517242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLH3 chr14 75499399 75499583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLH3 chr14 75499566 75499665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLH3 chr14 75499583 75499777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLH3 chr14 75514501 75522500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACYP1,MLH3 chr14 75516151 75561209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACYP1,MLH3,NEK9,ZC2HC1C chr14 75519006 75519106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 75521849 75619845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACYP1,NEK9,TMED10,ZC2HC1C chr14 75521849 75619845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACYP1,NEK9,TMED10,ZC2HC1C chr14 75521878 75619842 Gain and loss Pancreatic cancer SNP array 17952125 ACYP1,NEK9,TMED10,ZC2HC1C chr14 75549088 75549188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK9 chr14 75607501 75625000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMED10 chr14 75625001 75655500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMED10 chr14 75626083 75626179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMED10 chr14 75660427 76782823 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BATF,C14orf1,FLVCR2,FOS,GPATCH2L,IFT43,JDP2,LOC731223,RNU6-19,RNU6-6,TGFB3,TTLL5 chr14 75673160 75673260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 75688012 75738884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 75688012 75738887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 75688012 75738887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 47572068 47617097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4A22,CYP4Z1 chr1 47572068 47617097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4A22,CYP4Z1 chr14 75763598 75763698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 75787649 75787749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 75810748 75810848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 75818194 106355525 Gain Developmental delay affymetrix genechip 500K/SNP 6.60 array 21147756 ADCK1,ADSSL1,AHNAK2,AHSA1,AK7,AKT1,ALKBH1,AMN,ANGEL1,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BATF,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf1,C14orf132,C14orf142,C14orf159,C14orf166B,C14orf177,C14orf178,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,ESRRB,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FLVCR2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPATCH2L,GPR132,GPR65,GPR68,GSC,GSKIP,GSTZ1,GTF2A1,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,IFT43,INF2,IRF2BPL,ISM2,ITPK1,ITPK1-AS1,JAG2,JDP2,KCNK10,KCNK13,KIAA0284,KIAA1737,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR1260A,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NGB,NOXRED1,NRDE2,NRXN3,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,POMT2,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RNU6-19,RNU6-6,RPS6KA5,RTL1,SAMD15,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SLIRP,SMEK1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SNW1,SPATA7,SPTLC2,STON2,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TGFB3,TMED8,TMEM121,TMEM179,TMEM251,TMEM63C,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,TTLL5,UBR7,UNC79,VASH1,VIPAS39,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZDHHC22,ZFYVE21,ZNF839 chr14 75823248 75823335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 75840206 79217188 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADCK1,AHSA1,ALKBH1,ANGEL1,BATF,C14orf1,C14orf166B,C14orf178,ESRRB,FLVCR2,GPATCH2L,GSTZ1,IFT43,IRF2BPL,ISM2,JDP2,KIAA1737,MIR1260A,NGB,NOXRED1,NRXN3,POMT2,RNU6-19,RNU6-6,SAMD15,SLIRP,SNW1,SPTLC2,TGFB3,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,ZDHHC22 chr14 75859501 76034000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BATF,JDP2 chr14 75864127 75864427 Loss Chordoma References 21215367 NOT_FOUND chr14 75883529 75883961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 75887005 75888005 Gain Chordoma References 21215367 NOT_FOUND chr14 75907479 76036961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BATF,JDP2 chr14 75907479 76036961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BATF,JDP2 chr1 47593764 47595743 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 75968703 75968928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 75975450 76035978 Gain and loss Pancreatic cancer SNP array 17952125 BATF chr14 75990855 75991005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BATF chr14 75998051 75999150 Loss Normal 244K array 17666407 BATF chr1 47600000 59900000 Copy number Meckel-Gruber syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACOT11,AGBL4,BEND5,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CMPK1,CPT2,CYB5RL,CYP4A22,DAB1,DHCR24,DIO1,DMRTA2,DMRTB1,ECHDC2,ELAVL4,EPS15,FAF1,FAM151A,FAM159A,FGGY,FOXD2,FOXD2-AS1,FOXE3,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSD52,HSPB11,JUN,KTI12,LDLRAD1,LOC100131060,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4781,MIR761,MRPL37,MYSM1,NRD1,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PDZK1IP1,PDZK1IP1-AS1,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SKINTL,SLC1A7,SLC25A3P1,SLC5A9,SPATA6,SSBP3,STIL,TACSTD2,TAL1,TCEANC2,TMEM48,TMEM59,TMEM61,TRABD2B,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr14 76030965 76031590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76034001 76037000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 76037001 76296500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf1,FLVCR2,TTLL5 chr14 76067708 76068911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FLVCR2 chr14 76067916 76068640 Loss Normal 244K array 17666407 FLVCR2 chr14 76085792 76085892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLVCR2 chr14 76099850 76100682 Gain Normal 244K array 17666407 FLVCR2 chr14 761154 7656978 Copy number Autism exome sequencing 22495311 NOT_FOUND chr1 47613709 47617952 Gain and loss Pancreatic cancer SNP array 17952125 CYP4A22 chr14 76171342 76171721 Gain and loss Pancreatic cancer SNP array 17952125 TTLL5 chr14 76184263 76185263 Loss Chordoma References 21215367 TTLL5 chr14 76242700 78219740 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AHSA1,ALKBH1,ANGEL1,C14orf166B,ESRRB,GPATCH2L,GSTZ1,IFT43,IRF2BPL,ISM2,KIAA1737,MIR1260A,NGB,NOXRED1,POMT2,RNU6-19,RNU6-6,SAMD15,SLIRP,SNW1,SPTLC2,TGFB3,TMED8,TMEM63C,TTLL5,VASH1,VIPAS39,ZDHHC22 chr14 76253080 76253175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTLL5 chr14 76263435 76263492 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTLL5 chr14 76296501 76319500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTLL5 chr14 76298285 76319107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTLL5 chr14 76298285 76319107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTLL5 chr14 76298285 76319109 Gain and loss Pancreatic cancer SNP array 17952125 TTLL5 chr14 76319501 76561500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFT43,TGFB3,TTLL5 chr14 76323341 76348983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTLL5 chr14 76323341 76348983 Gain and loss Pancreatic cancer SNP array 17952125 TTLL5 chr14 76323341 76348983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTLL5 chr14 76342391 76342475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTLL5 chr14 76344532 76344623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTLL5 chr14 76362468 76406392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTLL5 chr14 76362468 76406392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTLL5 chr14 76362480 76406392 Gain and loss Pancreatic cancer SNP array 17952125 TTLL5 chr14 76400221 76401221 Loss Chordoma References 21215367 TTLL5 chr14 76422500 76422846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 76422500 76422846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76426359 76426672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFB3 chr14 76426368 76426611 Gain and loss Pancreatic cancer SNP array 17952125 TGFB3 chr14 76426368 76426611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFB3 chr14 76427546 76427646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFB3 chr14 76504779 76505242 Gain and loss Pancreatic cancer SNP array 17952125 IFT43 chr14 76504779 76505242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT43 chr1 47654331 47656310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDZK1IP1 chr1 47654331 47656310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDZK1IP1 chr14 76560638 76564787 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr14 76561498 76563888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 76561498 76563888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76561501 76564500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 76564501 76716500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPATCH2L chr14 76574889 76574921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 76593621 76593719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 76600509 76600569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 76634331 76653382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPATCH2L chr14 76634331 76653382 Gain and loss Pancreatic cancer SNP array 17952125 GPATCH2L chr14 76634331 76653382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPATCH2L chr14 76669804 76675834 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 76669804 76675834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 47671001 47672500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 76716501 76816500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNU6-19,RNU6-6 chr14 76717923 76795591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNU6-19,RNU6-6 chr14 76717923 76795591 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-19,RNU6-6 chr14 76717923 76795591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU6-19,RNU6-6 chr1 47672501 47830500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CMPK1,STIL,TAL1 chr14 76737122 76737236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76737122 76737239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 76737122 76737248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 47674276 47678519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76744812 76744962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 76755401 76759200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 76756949 76757049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 76771598 76771773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 76777170 76822777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 76801581 76807408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76801581 76807408 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 76801581 76807408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76802314 76802386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76811054 76856978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76811054 76856978 Gain and loss Pancreatic cancer SNP array 17952125 ESRRB chr14 76811054 76856978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76816501 76868500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ESRRB chr14 76840000 78630000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 ADCK1,AHSA1,ALKBH1,ANGEL1,C14orf166B,C14orf178,ESRRB,GSTZ1,IRF2BPL,ISM2,KIAA1737,MIR1260A,NGB,NOXRED1,POMT2,SAMD15,SLIRP,SNW1,SPTLC2,TMED8,TMEM63C,VASH1,VIPAS39,ZDHHC22 chr14 76844849 76867692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76844849 76867692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76857107 76867692 Gain and loss Pancreatic cancer SNP array 17952125 ESRRB chr14 76871119 76913191 Gain and loss Pancreatic cancer SNP array 17952125 ESRRB chr14 76877845 76913205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76877845 76913205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76889274 77394297 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ANGEL1,C14orf166B,ESRRB,VASH1 chr14 76912501 76913500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ESRRB chr14 76913229 76927593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76913515 76927340 Gain and loss Pancreatic cancer SNP array 17952125 ESRRB chr14 76920343 76924551 Gain Normal Birdsuite, version 1.5.2 22087296 ESRRB chr14 76922955 76968358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ESRRB chr14 76930120 76959132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76930120 76959132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76930539 76959152 Gain and loss Pancreatic cancer SNP array 17952125 ESRRB chr14 76939973 76940090 Gain and loss Pancreatic cancer SNP array 17952125 ESRRB chr14 76939973 76940090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76940001 76940089 Gain and loss Pancreatic cancer SNP array 17952125 ESRRB chr1 47695654 47695718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 76962771 76993657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76962771 76993657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRRB chr14 76962771 76993697 Gain and loss Pancreatic cancer SNP array 17952125 ESRRB chr14 76984427 77144559 Gain small cell lung cancer Real-time Quantitative PCR 17426248 NOT_FOUND chr14 76993501 76994500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 76994155 77005560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 76994155 77005560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 76994155 77005560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77002407 77002532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77002430 77002531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 77010490 77034912 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr14 77010493 77034946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77010493 77034946 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 77010493 77034946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77010501 77036500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 77043025 77152863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77043025 77152863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 77043025 77152863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77083662 77083954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 77083662 77083954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77083664 77083965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77116095 77116245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 77116254 77116386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 77116264 77116364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 77143933 77332325 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANGEL1,C14orf166B,VASH1 chr14 77152001 77153000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 77189250 77194711 Loss Normal 244K array 17666407 NOT_FOUND chr14 77194709 77194815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 77208502 77244109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VASH1 chr14 77208502 77244109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VASH1 chr14 77209143 77244109 Gain and loss Pancreatic cancer SNP array 17952125 VASH1 chr14 77244177 77253696 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ANGEL1,VASH1 chr14 77244181 77253692 Gain and loss Pancreatic cancer SNP array 17952125 ANGEL1,VASH1 chr14 77244188 77253690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANGEL1,VASH1 chr14 77244188 77253690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANGEL1,VASH1 chr14 77253699 77297249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANGEL1,C14orf166B chr14 77253699 77297249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANGEL1,C14orf166B chr14 77253703 77297250 Gain and loss Pancreatic cancer SNP array 17952125 ANGEL1,C14orf166B chr14 77294902 77295006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C14orf166B chr14 77295065 77295178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C14orf166B chr14 77295168 77295251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C14orf166B chr14 77296646 77305838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf166B chr14 77296646 77305838 Gain and loss Pancreatic cancer SNP array 17952125 C14orf166B chr14 77296646 77305838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf166B chr14 77318201 77321800 Deletion Glioma mate-paired sequence 20126413 C14orf166B chr14 77319606 77319943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C14orf166B chr14 77323001 77531500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf166B,IRF2BPL chr14 77336222 77470047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf166B chr14 77336222 77470047 Gain and loss Pancreatic cancer SNP array 17952125 C14orf166B chr14 77336222 77470047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf166B chr14 77343510 77343616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 77357126 77357238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77357128 77357238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 77357129 77357238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 47736151 47736598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STIL chr14 77363836 77398259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 77364912 77366818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 77370067 78979806 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCK1,AHSA1,ALKBH1,C14orf178,GSTZ1,IRF2BPL,ISM2,KIAA1737,MIR1260A,NGB,NOXRED1,NRXN3,POMT2,SAMD15,SLIRP,SNW1,SPTLC2,TMED8,TMEM63C,VIPAS39,ZDHHC22 chr14 77404743 77404843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47740763 47740898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STIL chr14 77414683 77414783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 77433381 77433433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 77491216 77491281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IRF2BPL chr14 77606597 77606632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZDHHC22 chr14 77608316 77608386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 77609709 78548073 LOH Normal High-resolution SNP genotyping 21211785 ADCK1,AHSA1,ALKBH1,C14orf178,GSTZ1,ISM2,MIR1260A,NGB,NOXRED1,POMT2,SAMD15,SLIRP,SNW1,SPTLC2,TMED8,TMEM63C,VIPAS39 chr14 77613204 77613304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 77653063 77683192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM63C chr14 77666257 78259193 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1018K arrays 21546498 AHSA1,ALKBH1,C14orf178,GSTZ1,ISM2,MIR1260A,NGB,NOXRED1,POMT2,SAMD15,SLIRP,SNW1,SPTLC2,TMED8,TMEM63C,VIPAS39 chr14 77702797 77747471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1260A,NGB,POMT2,TMEM63C chr14 77713899 77714017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM63C chr14 77713911 77714017 Gain and loss Pancreatic cancer SNP array 17952125 TMEM63C chr14 77713929 77714017 Gain and loss Pancreatic cancer SNP array 17952125 TMEM63C chr14 77750645 79747731 Loss Bladder cancer array-CGH 21909424 ADCK1,AHSA1,ALKBH1,C14orf178,GSTZ1,ISM2,NOXRED1,NRXN3,POMT2,SAMD15,SLIRP,SNW1,SPTLC2,TMED8,VIPAS39 chr14 77755326 77755423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POMT2 chr14 77779190 79400511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCK1,AHSA1,ALKBH1,C14orf178,GSTZ1,ISM2,NOXRED1,NRXN3,POMT2,SAMD15,SLIRP,SNW1,SPTLC2,TMED8,VIPAS39 chr14 77779190 79400511 Gain and loss Pancreatic cancer SNP array 17952125 ADCK1,AHSA1,ALKBH1,C14orf178,GSTZ1,ISM2,NOXRED1,NRXN3,POMT2,SAMD15,SLIRP,SNW1,SPTLC2,TMED8,VIPAS39 chr14 77779190 79400511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCK1,AHSA1,ALKBH1,C14orf178,GSTZ1,ISM2,NOXRED1,NRXN3,POMT2,SAMD15,SLIRP,SNW1,SPTLC2,TMED8,VIPAS39 chr14 77856088 77861757 Gain Normal Birdsuite, version 1.5.2 22087296 NOXRED1,SAMD15 chr1 47788455 47789012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 77897987 77898337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VIPAS39 chr14 77926803 77926903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AHSA1 chr14 77956633 77956695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISM2 chr14 77973363 78243281 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALKBH1,C14orf178,SLIRP,SNW1,SPTLC2 chr1 47800000 57600000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACOT11,AGBL4,BEND5,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CMPK1,CPT2,CYB5RL,DAB1,DHCR24,DIO1,DMRTA2,DMRTB1,ECHDC2,ELAVL4,EPS15,FAF1,FAM151A,FAM159A,FOXD2,FOXD2-AS1,FOXE3,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KTI12,LDLRAD1,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4781,MIR761,MRPL37,NRD1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SKINTL,SLC1A7,SLC25A3P1,SLC5A9,SPATA6,SSBP3,TCEANC2,TMEM48,TMEM59,TMEM61,TRABD2B,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr14 78043559 78043712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTLC2 chr14 78100201 78124900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 78137274 78176140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALKBH1,SLIRP chr14 78153962 78154071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALKBH1 chr14 78180000 80250000 Loss Breast cancer aCGH 21509527 ADCK1,C14orf178,NRXN3,SLIRP,SNW1 chr14 78187321 79400511 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADCK1,C14orf178,NRXN3,SNW1 chr14 78260870 78261004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 78261991 78262177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 78274399 78274489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCK1 chr14 78277626 78289980 Gain and loss Pancreatic cancer SNP array 17952125 ADCK1 chr14 78277978 78278304 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ADCK1 chr14 78278854 78286016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADCK1 chr14 78292250 78292325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCK1 chr1 47830501 47832500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CMPK1 chr1 47832501 47947000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CMPK1,FOXD2,FOXD2-AS1,FOXE3 chr14 78350655 78350755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCK1 chr1 47837606 47852254 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CMPK1 chr14 78389493 78389593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCK1 chr14 78400000 100400000 Loss Glioblastoma aCGH 21080181 ADCK1,AK7,ASB2,ATG2B,ATXN3,BCL11B,BDKRB1,BDKRB2,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf64,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CEP128,CHGA,CLMN,COX8C,CPSF2,CYP46A1,DDX24,DICER1,DICER1-AS1,DIO2,DIO2-AS1,EFCAB11,EML1,EML5,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR65,GPR68,GSC,GSKIP,GTF2A1,HHIPL1,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,KCNK10,KCNK13,LGMN,LINC00341,LINC00521,LINC00617,LINC00642,LOC100129345,LOC283585,LOC283587,MIR3173,MIR5698,MOAP1,NDUFB1,NRDE2,NRXN3,OTUB2,PAPOLA,PPP4R4,PRIMA1,PSMC1,PTPN21,RIN3,RPS6KA5,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SLC24A4,SMEK1,SNHG10,SNORA11B,SNORA79,SPATA7,STON2,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TMEM251,TRIP11,TSHR,TTC7B,TTC8,UBR7,UNC79,VRK1,ZC3H14 chr14 78400000 106368585 Amplification Esophageal squamous carcinoma CGH 21637470 ADCK1,ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR132,GPR65,GPR68,GSC,GSKIP,GTF2A1,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK10,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NRXN3,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,STON2,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 78400000 106368585 Gain Glioblastoma multiforme conventional CGH 21080181 ADCK1,ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2,DIO2-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR132,GPR65,GPR68,GSC,GSKIP,GTF2A1,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK10,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NRXN3,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,STON2,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 78400000 82600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADCK1,CEP128,DIO2,DIO2-AS1,GTF2A1,NRXN3,SEL1L,SNORA79,STON2,TSHR chr14 78400000 82600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADCK1,CEP128,DIO2,DIO2-AS1,GTF2A1,NRXN3,SEL1L,SNORA79,STON2,TSHR chr14 78400000 88900000 Copy number Normal custom agilent 4*44k oligonucleotide microarray 21480481 ADCK1,CEP128,DIO2,DIO2-AS1,FLRT2,GALC,GPR65,GTF2A1,KCNK10,LOC283585,LOC283587,NRXN3,SEL1L,SNORA79,SPATA7,STON2,TSHR chr14 78400000 88900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ADCK1,CEP128,DIO2,DIO2-AS1,FLRT2,GALC,GPR65,GTF2A1,KCNK10,LOC283585,LOC283587,NRXN3,SEL1L,SNORA79,SPATA7,STON2,TSHR chr14 78416046 78416357 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 78417085 78419049 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 78512782 78706147 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr14 78536692 78578318 Loss Autism qPCR 20531469 NOT_FOUND chr14 78557401 78589854 Loss Autism qPCR, Affy 6.0 20531469 NOT_FOUND chr1 47859352 47859436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 78624044 78624647 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 78635494 78635584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 78644558 78644658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 78681282 78681382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 78723680 78723778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 78728672 78728748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 78742485 78742585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47876181 47901763 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FOXD2,FOXD2-AS1,FOXE3 chr14 78764263 78764335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47880727 47953539 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FOXD2,FOXD2-AS1,FOXE3 chr14 78870757 78870857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 78873151 78873251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr1 47890000 51270000 Loss Breast cancer aCGH 21509527 AGBL4,BEND5,DMRTA2,ELAVL4,FAF1,FOXD2,FOXD2-AS1,SKINTL,SLC5A9,SPATA6,TRABD2B chr14 78912665 78912765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr1 47893228 47893378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 47896335 47941110 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FOXD2,FOXD2-AS1 chr14 78982505 78982698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 78982627 78982666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 78982702 78982890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79017818 79017863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79023704 79023804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRXN3 chr14 79037557 79037644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79046853 80275397 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NRXN3 chr14 79050940 79051744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRXN3 chr14 79088571 79088671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79108227 80275397 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NRXN3 chr14 79125284 79125384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79132597 79164964 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRXN3 chr14 79162207 79184812 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NRXN3 chr14 79162207 79184812 Total allelic loss Normal High-resolution SNP genotyping 21211785 NRXN3 chr14 79166858 79185625 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NRXN3 chr14 79166858 79185625 Total allelic loss Normal High-resolution SNP genotyping 21211785 NRXN3 chr14 79173263 79191643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRXN3 chr14 79173901 79186900 Deletion Glioma mate-paired sequence 20126413 NRXN3 chr14 79175432 79185172 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NRXN3 chr14 79176033 79184746 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NRXN3 chr14 79176041 79184805 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NRXN3 chr14 79176042 79184802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRXN3 chr14 79176066 79184140 Loss Normal 244K array 17666407 NRXN3 chr14 79184848 79185577 Gain Normal 244K array 17666407 NRXN3 chr14 79300000 83600000 Loss Gastric cancer Array CGH 16891809 CEP128,DIO2,DIO2-AS1,GTF2A1,NRXN3,SEL1L,SNORA79,STON2,TSHR chr14 79300000 91900000 Loss Breast cancer Microarray-based CGH 17133270 C14orf159,CALM1,CCDC88C,CEP128,DIO2,DIO2-AS1,EFCAB11,EML5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GPR65,GPR68,GTF2A1,KCNK10,KCNK13,LINC00642,LOC283585,LOC283587,NRDE2,NRXN3,PSMC1,PTPN21,RPS6KA5,SEL1L,SNORA11B,SNORA79,SPATA7,STON2,TDP1,TSHR,TTC7B,TTC8,ZC3H14 chr14 79389912 79390376 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NRXN3 chr1 47938999 47939310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 79411815 79565334 Amplification or deletion Cancer Array CGH 17440070 NRXN3 chr1 47947001 47950000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 47950001 47993500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 79550994 79551443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRXN3 chr14 79591998 79592098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79613324 79613424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79711153 79711253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79722623 79722708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79736595 79747604 Gain and loss Pancreatic cancer SNP array 17952125 NRXN3 chr14 79736598 79747604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN3 chr14 79789231 79831257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRXN3 chr14 79811959 79812059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79816012 79816112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr1 47993501 48067500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 79935023 79935120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79940805 79974413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRXN3 chr14 79954532 79954627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 79986727 80020983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRXN3 chr14 80028897 80028997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 80032577 80475637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRXN3 chr14 80032577 80475637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN3 chr14 80032639 80321062 Gain and loss Pancreatic cancer SNP array 17952125 NRXN3 chr14 80094409 80094489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr1 48013467 48039881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 80176456 80176500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 80182547 80182647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr1 48028051 48028136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80281800 80281862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 80284053 80284153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 80323441 80323541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN3 chr14 80365779 80365860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80366260 80477784 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 80404484 80404584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80407821 81765434 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP128,DIO2,DIO2-AS1,GTF2A1,SNORA79,STON2,TSHR chr14 80412403 80412493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80455584 80455684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80461540 80461632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80491528 80680525 Gain and loss Pancreatic cancer SNP array 17952125 DIO2,DIO2-AS1 chr14 80491528 80682399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIO2,DIO2-AS1 chr14 80491528 80682399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIO2,DIO2-AS1 chr14 80491621 80682399 Gain or loss Breast cancer - 20668451 DIO2,DIO2-AS1 chr14 80491621 80682399 Gain or loss Cancer - 20668451 DIO2,DIO2-AS1 chr14 80491621 80682399 Gain or loss Lung cancer - 20668451 DIO2,DIO2-AS1 chr14 80491621 80682399 Gain or loss Ovarian cancer - 20668451 DIO2,DIO2-AS1 chr14 80491621 80682399 Gain or loss Pancreas cancer - 20668451 DIO2,DIO2-AS1 chr14 80491621 80682399 Gain or loss Prostate cancer - 20668451 DIO2,DIO2-AS1 chr14 80538869 80539180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 80561162 80561243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80571944 80572044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80601961 80633495 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 80608849 80609134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 80639431 96200749 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ASB2,ATXN3,BTBD7,C14orf142,C14orf159,CALM1,CATSPERB,CCDC88C,CEP128,CHGA,CLMN,COX8C,CPSF2,DDX24,DICER1,DICER1-AS1,DIO2,DIO2-AS1,EFCAB11,EML5,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR65,GPR68,GSC,GTF2A1,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,KCNK10,KCNK13,LGMN,LINC00341,LINC00521,LINC00642,LOC283585,LOC283587,MIR3173,MOAP1,NDUFB1,NRDE2,OTUB2,PPP4R4,PRIMA1,PSMC1,PTPN21,RIN3,RPS6KA5,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SLC24A4,SMEK1,SNHG10,SNORA11B,SNORA79,SPATA7,STON2,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TMEM251,TRIP11,TSHR,TTC7B,TTC8,UBR7,UNC79,ZC3H14 chr14 80659427 80659527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 80666794 80667112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIO2 chr14 80668039 80668119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIO2 chr14 80674058 80674158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIO2 chr1 48067501 48294000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRABD2B chr14 80689322 80935179 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DIO2,DIO2-AS1 chr14 80716146 80757474 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 DIO2-AS1 chr14 80716147 80757047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIO2-AS1 chr14 80716147 80757047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIO2-AS1 chr14 80716147 80757328 Gain and loss Pancreatic cancer SNP array 17952125 DIO2-AS1 chr14 80738544 80738759 Gain and loss Pancreatic cancer SNP array 17952125 DIO2-AS1 chr14 80738544 80738759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIO2-AS1 chr14 80738792 80738931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIO2-AS1 chr14 80741860 106368585 Deletion Cancer Affymetrix 250K Sty array 20164920 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CEP128,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO2-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR132,GPR65,GPR68,GSC,GSKIP,GTF2A1,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK10,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SEL1L,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORA79,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,STON2,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TSHR,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 80782391 80782660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIO2-AS1 chr14 80806662 80934680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIO2-AS1 chr14 80806662 80934680 Gain and loss Pancreatic cancer SNP array 17952125 DIO2-AS1 chr14 80806662 80934680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIO2-AS1 chr14 80812129 80812229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIO2-AS1 chr1 48083240 48117444 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 80880502 80880599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIO2-AS1 chr14 80947965 80950348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 48096040 48096109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 81007646 81069886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP128 chr14 81007646 81069886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP128 chr14 81007646 81069934 Gain and loss Pancreatic cancer SNP array 17952125 CEP128 chr14 81019889 81019989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP128 chr1 48105206 48105291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 81076246 81076346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP128 chr14 81100000 82190000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 CEP128,GTF2A1,SEL1L,SNORA79,STON2,TSHR chr14 81153602 81153686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP128 chr1 48117613 48117693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 81186115 81207911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP128 chr14 81197613 81197707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP128 chr14 81227053 81227153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP128 chr14 81247068 81247168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP128 chr14 81417277 84690252 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GTF2A1,SEL1L,SNORA79,STON2,TSHR chr14 81544176 81577157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSHR chr14 81559076 81579417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSHR chr14 81563729 81608400 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSHR chr14 81564245 81580873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSHR chr14 81567685 81578448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSHR chr14 81568864 81573073 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TSHR chr14 81599513 81600195 Gain and loss Pancreatic cancer SNP array 17952125 TSHR chr14 81608876 81608967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHR chr1 48167966 48168066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 81705838 81708582 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 81720000 86360000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 FLRT2,SEL1L,STON2 chr14 81736209 81736309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STON2 chr14 81754888 81754988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STON2 chr14 81777538 81777638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STON2 chr14 81786616 81786752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STON2 chr14 81812569 81812669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STON2 chr1 48183581 48220493 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 81899072 81915321 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 81965968 81966252 Gain and loss Pancreatic cancer SNP array 17952125 SEL1L chr14 81965968 81966252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEL1L chr1 4819786 4823945 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AJAP1 chr14 81998185 81998284 Gain and loss Pancreatic cancer SNP array 17952125 SEL1L chr14 81998185 81998284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEL1L chr14 82026610 84779276 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr14 82057311 82102846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 82065243 82067216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 82089333 82089613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 82089355 82089635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 82105460 82216550 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 82123162 82123237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82171885 82171942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82224286 82225222 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 82228800 82229152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 82228800 82229155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 82273682 82276616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 82308607 106368585 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR132,GPR65,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK10,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 82310562 82345510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 48232290 48232859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRABD2B chr14 82325650 82936792 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 82335360 82335460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82344220 82355782 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 82344220 82357902 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 82371531 82371631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82379158 86949005 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLRT2 chr1 4823860 4823921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AJAP1 chr14 82446171 82446271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82456490 82456652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 82492273 82492372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82517487 82517587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48255573 49602183 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGBL4,BEND5,SKINTL,SLC5A9,SPATA6,TRABD2B chr14 82583719 82583778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82584675 82584737 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 82621761 82621861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82626612 82626712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82648524 82648624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 48267787 48267887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRABD2B chr14 82703601 82708200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 82705590 82706236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 48281326 48281898 Gain and loss Pancreatic cancer SNP array 17952125 TRABD2B chr14 82824945 82825045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82846529 82846629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 82921794 82922116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 82970145 82970234 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 82980363 82980463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48298914 48298974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRABD2B chr14 83124128 83124195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83124128 83124195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83124855 83125117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83124855 83125338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83125139 83125208 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83125139 83125208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83152367 83152467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 83179892 83179930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 83191133 83223560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 83206211 83363593 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 48327585 48327797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRABD2B chr14 83286498 83286596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83286498 83286596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83303865 83303965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 4833095 5633030 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AJAP1,MIR4417 chr14 83333782 83333882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 83354007 83354107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 4833825 4833918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AJAP1 chr1 48342312 48344486 Gain and loss Pancreatic cancer SNP array 17952125 TRABD2B chr14 83427493 83427567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 83433382 83437479 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 83467083 83522212 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 83503983 83510622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 83529864 83529934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 83557300 83601990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 83675424 83675632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 83708853 83708927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83708853 83708927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83709706 83709773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83709706 83709773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83709775 83709832 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83709775 83709832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83709833 83709897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83709833 83709897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83712441 83712509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 83712441 83712509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 83741564 83741649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48380880 48380980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRABD2B chr14 84000000 100400000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 AK7,ASB2,ATG2B,ATXN3,BCL11B,BDKRB1,BDKRB2,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf64,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CHGA,CLMN,COX8C,CPSF2,CYP46A1,DDX24,DICER1,DICER1-AS1,EFCAB11,EML1,EML5,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR65,GPR68,GSC,GSKIP,HHIPL1,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,KCNK10,KCNK13,LGMN,LINC00341,LINC00521,LINC00617,LINC00642,LOC100129345,LOC283585,LOC283587,MIR3173,MIR5698,MOAP1,NDUFB1,NRDE2,OTUB2,PAPOLA,PPP4R4,PRIMA1,PSMC1,PTPN21,RIN3,RPS6KA5,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SLC24A4,SMEK1,SNHG10,SNORA11B,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TMEM251,TRIP11,TTC7B,TTC8,UBR7,UNC79,VRK1,ZC3H14 chr14 84000000 88900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FLRT2,GALC,GPR65,KCNK10,LOC283585,LOC283587,SPATA7 chr1 48400424 48426332 Gain and loss Pancreatic cancer SNP array 17952125 TRABD2B chr14 84009628 84009728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48401158 48401258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRABD2B chr1 48402879 48405666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRABD2B chr1 48402879 48405666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRABD2B chr14 84030000 106000000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR132,GPR65,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK10,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 84076535 84076635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 84092026 84092126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 84130826 84265916 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr14 84164911 84165011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 84208899 84209378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 84208915 84209380 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 84208932 84209354 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 84280096 84280186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 84282628 84282728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 84347252 84373770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 84358716 84358818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 84360855 84400000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 84364801 84373900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr14 84366689 84371875 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 84366768 84372004 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 84366862 84371908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 84378374 84378474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48439969 48440217 Gain and loss Pancreatic cancer SNP array 17952125 TRABD2B chr14 84508457 84508557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48452476 48488228 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TRABD2B chr1 48454280 48488228 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TRABD2B chr14 84562088 84596048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 48457697 48457797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRABD2B chr1 48459579 48517648 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TRABD2B chr1 48460990 48486903 Deletion Intellectual disability 100k SNP Array 21811512 TRABD2B chr1 48460991 48486903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRABD2B chr1 48460991 48486903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRABD2B chr14 84610707 84610752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48462816 48517648 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 84632558 84632733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 84647640 84647740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 84713393 85265055 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr14 84724993 84725227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 84724993 84725227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 84724993 84725297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 48472912 49602183 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGBL4,BEND5,SKINTL,SLC5A9,SPATA6 chr1 48476298 48649865 Gain and loss Pancreatic cancer SNP array 17952125 SKINTL chr14 84808029 84808102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 84808029 84808102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 84810248 85118321 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr14 84900000 107349540 Loss Basal cell lymphoma Array CGH 16317097 ADAM6,ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR132,GPR65,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK10,KCNK13,KIAA0125,KIAA0284,KIF26A,KLC1,LGMN,LINC00221,LINC00226,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 84900000 107349540 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ADAM6,ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FLRT2,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR132,GPR65,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK10,KCNK13,KIAA0125,KIAA0284,KIF26A,KLC1,LGMN,LINC00221,LINC00226,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283585,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 84913000 86323000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 FLRT2 chr1 48494708 48496258 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr14 84955083 84955172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85061230 85066085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 85066001 85068000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 85066241 85159827 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 85066241 85164022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 85066241 85164022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 85109361 85714809 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 85109361 85716189 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 85109361 85913601 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 85204559 85238350 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 48521901 48522007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 85222836 85222911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85228067 85495155 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 85269133 85269233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85270791 85274649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 85279746 88571776 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLRT2,GALC,GPR65,LOC283585,LOC283587 chr14 85288372 87547166 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FLRT2,LOC283585 chr14 85290114 85290214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48533206 48640116 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 SKINTL chr14 85336694 85336794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85356065 85381926 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 85356066 85385875 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 48536096 48710432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SKINTL,SLC5A9 chr1 48536096 48710432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SKINTL,SLC5A9 chr14 85385889 85409024 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 85405662 85405762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85412589 85412909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 85481243 85492510 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 85490856 85490944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85507794 85507877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85527780 85559605 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 85529420 85529520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85530379 85552124 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 85597921 85706142 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr14 85607155 85652240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 85617780 85641251 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 85617792 85641263 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 48563349 48564382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 85746169 85907603 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr14 85775516 87796012 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 FLRT2,LOC283585 chr1 48580747 48581747 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 SKINTL chr1 48582468 48582574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SKINTL chr1 48583227 51275739 Substitutions and indels small cell lung cancer array-CGH 20016488 AGBL4,BEND5,DMRTA2,ELAVL4,FAF1,SKINTL,SLC5A9,SPATA6 chr14 85869385 85869457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85873240 85873335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 85937929 85938029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 86015849 86026934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLRT2 chr14 86098310 87356930 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 86122632 86124230 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 86122649 86124215 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 48613659 48614915 Gain and loss Pancreatic cancer SNP array 17952125 SKINTL chr14 86183757 86198384 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr14 86185554 86334317 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr1 48625628 48625700 Gain and loss Pancreatic cancer SNP array 17952125 SKINTL chr1 48625628 48625761 Gain and loss Pancreatic cancer SNP array 17952125 SKINTL chr14 86259051 86411966 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr14 86276917 86277000 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 86289500 86289600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 86348699 86348753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 86441875 86442072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 86486360 86486445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 86505956 86506046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 86533539 86656689 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr14 86625640 86625960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 86630485 86630681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 86630572 86630672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 86630700 86630876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48674226 48675482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 86848407 86848507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48686195 48686301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 86923780 86923894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 86927810 86928136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 86992760 87673832 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC283585 chr14 87001133 87001186 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 48706744 48706824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC5A9 chr14 87102811 87107121 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 4871077 4884232 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 4871077 4886368 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 4872046 4887284 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 4872046 4901771 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 87259422 87259522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 8729660 8746911 Copy number Autism exome sequencing 22495311 NOT_FOUND chr14 87320681 87320770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 48735522 48735995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87377280 94457872 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ASB2,ATXN3,BTBD7,C14orf142,C14orf159,CALM1,CATSPERB,CCDC88C,CHGA,COX8C,CPSF2,EFCAB11,EML5,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GOLGA5,GPR65,GPR68,ITPK1,ITPK1-AS1,KCNK10,KCNK13,LGMN,LINC00642,LOC283585,LOC283587,MOAP1,NDUFB1,NRDE2,PRIMA1,PSMC1,PTPN21,RIN3,RPS6KA5,SLC24A4,SMEK1,SNORA11B,SPATA7,TC2N,TDP1,TMEM251,TRIP11,TTC7B,TTC8,UBR7,UNC79,ZC3H14 chr14 87460335 87460392 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 87469110 87529660 Deletion Glaucoma TaqMan-based realtime PCR 22073273 NOT_FOUND chr14 87469110 87529660 Insertion leukodystrophy References 22138850 NOT_FOUND chr14 87469113 87529596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 87469113 87529660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87469113 87529660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87500547 88393829 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr14 87518005 87518101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 87528501 87529500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 87532445 87532545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 87532445 87532545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87541249 87548164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87541249 87548164 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 87541249 87548164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87548487 87581197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 87555511 87556636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 87558284 87558384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 87566076 87566156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 87586597 97787248 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AK7,ASB2,ATG2B,ATXN3,BDKRB1,BDKRB2,BTBD7,C14orf132,C14orf142,C14orf159,CALM1,CATSPERB,CCDC88C,CHGA,CLMN,COX8C,CPSF2,DDX24,DICER1,DICER1-AS1,EFCAB11,EML5,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR65,GPR68,GSC,GSKIP,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,KCNK10,KCNK13,LGMN,LINC00341,LINC00521,LINC00617,LINC00642,LOC283587,MIR3173,MOAP1,NDUFB1,NRDE2,OTUB2,PAPOLA,PPP4R4,PRIMA1,PSMC1,PTPN21,RIN3,RPS6KA5,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SLC24A4,SMEK1,SNHG10,SNORA11B,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TMEM251,TRIP11,TTC7B,TTC8,UBR7,UNC79,VRK1,ZC3H14 chr14 87604117 106349785 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GALC,GLRX5,GOLGA5,GPR132,GPR65,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK10,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,LOC283587,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr1 48761562 48840936 Gain and loss Pancreatic cancer SNP array 17952125 SPATA6 chr14 87637836 87637986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 4876620 4896028 Copy number Lung cancer - 20668451 NOT_FOUND chr1 4876620 4896028 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 4876620 4896028 Gain or loss Cancer - 20668451 NOT_FOUND chr1 4876620 4896028 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 4876620 4896028 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 4876620 4896028 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 4876620 4896028 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 87706299 87814634 Gain Stenocardia MACArray Karyo 66K BAC-chips 21860640 NOT_FOUND chr14 87706299 87814634 Gain Vasospasm MACArray Karyo 66K BAC-chips 21860640 NOT_FOUND chr1 48771114 50262172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4,BEND5,SPATA6 chr14 87721006 87863006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 87721008 87863004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87721008 87863004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 8774557 87921495 Copy number Autism exome sequencing 22495311 ABCD4,ABHD12B,ABHD4,ACIN1,ACOT1,ACOT2,ACOT4,ACOT6,ACTN1,ACTR10,ACYP1,ADAM20,ADAM20P1,ADAM21,ADAM21P1,ADCK1,ADCY4,AHSA1,AJUBA,AKAP5,AKAP6,ALDH6A1,ALKBH1,ANG,ANGEL1,AP1G2,AP4S1,AP5M1,APEX1,ARF6,ARG2,ARHGAP5,ARHGAP5-AS1,ARHGEF40,ARID4A,ATG14,ATL1,ATP5S,ATP6V1D,BATF,BAZ1A,BCL2L2,BCL2L2-PABPN1,BMP4,BRMS1L,C14orf1,C14orf101,C14orf105,C14orf119,C14orf162,C14orf166,C14orf166B,C14orf169,C14orf176,C14orf178,C14orf182,C14orf183,C14orf23,C14orf28,C14orf37,C14orf39,C14orf93,CBLN3,CCDC175,CCDC176,CCNB1IP1,CDH24,CDKL1,CDKN3,CEBPE,CEP128,CFL2,CGRRF1,CHD8,CHMP4A,CHURC1,CHURC1-FNTB,CIDEB,CLEC14A,CMA1,CMTM5,CNIH,COCH,COQ6,COX16,CPNE6,CTAGE5,CTSG,DAAM1,DACT1,DAD1,DCAF11,DCAF4,DCAF5,DDHD1,DHRS1,DHRS2,DHRS4,DHRS4-AS1,DHRS4L1,DHRS4L2,DHRS7,DIO2,DIO2-AS1,DLGAP5,DLST,DNAAF2,DNAL1,DPF3,DTD2,EAPP,ECRP,EDDM3A,EDDM3B,EFS,EGLN3,EIF2B2,EIF2S1,ELMSAN1,EMC9,ENTPD5,ERH,ERO1L,ESR2,ESRRB,EXD2,EXOC5,FAM161B,FAM177A1,FAM179B,FAM71D,FANCM,FBXO33,FBXO34,FCF1,FERMT2,FITM1,FKBP3,FLJ22447,FLJ31306,FLRT2,FLVCR2,FNTB,FOS,FOXA1,FOXG1,FRMD6,FRMD6-AS1,FRMD6-AS2,FSCB,FUT8,FUT8-AS1,G2E3,GALNTL1,GCH1,GEMIN2,GMFB,GMPR2,GNG2,GNPNAT1,GPATCH2L,GPHB5,GPHN,GPR135,GPR137C,GPR33,GPX2,GSTZ1,GTF2A1,GZMB,GZMH,HAUS4,HEATR4,HEATR5A,HECTD1,HIF1A,HIF1A-AS2,HNRNPC,HOMEZ,HSPA2,IFT43,IGBP1P1,IL25,INSM2,IPO4,IRF2BPL,IRF9,ISCA2,ISM2,JDP2,JKAMP,JPH4,KCNH5,KHNYN,KIAA0247,KIAA0317,KIAA0391,KIAA0586,KIAA1737,KLHDC1,KLHDC2,KLHL28,KLHL33,KTN1,KTN1-AS1,L2HGDH,L3HYPDH,LGALS3,LIN52,LINC00238,LINC00520,LINC00639,LINC00640,LINC00641,LINC00643,LINC00645,LINC00648,LOC100129794,LOC100288846,LOC100289511,LOC100506071,LOC100506321,LOC145474,LOC283585,LOC642426,LOC731223,LRFN5,LRP10,LRR1,LRRC16B,LTB4R,LTB4R2,LTBP2,MAP3K9,MAP4K5,MAPK1IP1L,MAX,MBIP,MDGA2,MDP1,MED6,METTL17,METTL21D,METTL3,MGAT2,MIA2,MIPOL1,MIR1260A,MIR208A,MIR208B,MIR4307,MIR4308,MIR4503,MIR4505,MIR4706,MIR4707,MIR4708,MIR4709,MIR548AI,MIR548Y,MIR5580,MIR624,MIS18BP1,MLH3,MMP14,MNAT1,MPP5,MRPL52,MTHFD1,MYH6,MYH7,NAA30,NDRG2,NEDD8,NEDD8-MDP1,NEK9,NEMF,NFATC4,NFKBIA,NGB,NGDN,NID2,NIN,NKX2-1,NKX2-8,NOP9,NOVA1,NOXRED1,NPAS3,NPC2,NRL,NRXN3,NUBPL,NUMB,NYNRIN,OR10G2,OR10G3,OR11G2,OR11H12,OR11H2,OR11H4,OR11H6,OR4E2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3,OR5AU1,OR6S1,OSGEP,OTX2,OTX2-AS1,OXA1L,PABPN1,PAPLN,PARP2,PAX9,PCK2,PCNX,PCNXL4,PELI2,PGF,PIGH,PLEK2,PLEKHD1,PLEKHG3,PLEKHH1,PNMA1,PNN,PNP,POLE2,POMT2,POTEG,POTEM,PPM1A,PPP1R36,PPP1R3E,PPP2R3C,PPP2R5E,PRKCH,PRKD1,PRMT5,PROX2,PRPF39,PSEN1,PSMA3,PSMA6,PSMB11,PSMB5,PSMC6,PSME1,PSME2,PTCSC3,PTGDR,PTGER2,PTGR2,PYGL,RAB15,RAB2B,RABGGTA,RAD51B,RALGAPA1,RBM23,RBM25,RDH11,RDH12,REC8,REM2,RGS6,RHOJ,RIPK3,RNASE1,RNASE10,RNASE11,RNASE12,RNASE13,RNASE2,RNASE3,RNASE4,RNASE6,RNASE7,RNASE8,RNASE9,RNF31,RNU6-19,RNU6-6,RPGRIP1,RPL10L,RPL13AP3,RPL36AL,RPPH1,RPS29,RPS6KL1,RTN1,SALL2,SAMD15,SAMD4A,SAV1,SCFD1,SDR39U1,SEC23A,SEL1L,SFTA3,SGPP1,SIPA1L1,SIX1,SIX4,SIX6,SLC10A1,SLC22A17,SLC25A21,SLC35F4,SLC38A6,SLC39A2,SLC39A9,SLC7A7,SLC7A8,SLC8A3,SLIRP,SMOC1,SNAPC1,SNORA79,SNORD126,SNORD127,SNORD56B,SNORD8,SNORD9,SNW1,SNX6,SOCS4,SOS2,SPTB,SPTLC2,SPTSSA,SRP54,SRSF5,SSTR1,STON2,STRN3,STXBP6,STYX,SUPT16H,SYNDIG1L,SYNE2,SYNJ2BP,SYNJ2BP-COX16,SYT16,TBPL2,TEP1,TEX21P,TGFB3,TGM1,THTPA,TIMM9,TINF2,TM9SF1,TMED10,TMED8,TMEM229B,TMEM30B,TMEM55B,TMEM63C,TMX1,TOMM20L,TOX4,TPPP2,TRAPPC6B,TRIM9,TRMT5,TSHR,TSSK4,TTC5,TTC9,TTLL5,TXNDC16,VASH1,VIPAS39,VRTN,VSX2,VTI1B,WDHD1,WDR89,YLPM1,ZBTB1,ZBTB25,ZC2HC1C,ZDHHC22,ZFHX2,ZFP36L1,ZFYVE1,ZFYVE26,ZNF219,ZNF410 chr14 87796012 89461556 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EML5,GALC,GPR65,KCNK10,LOC283587,PTPN21,SPATA7,TTC8,ZC3H14 chr14 87828485 88496829 LOH Normal High-resolution SNP genotyping 21211785 GALC,GPR65,LOC283587 chr14 87843988 87844088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 87874541 87874625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 87900918 87901018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 87921764 87974550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 87921765 87974555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87921765 87974555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 87959773 87959929 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr14 88001875 88086719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88001875 88086719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88003870 88086719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 88049595 88049709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88049595 88049725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 88060766 88060807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88099067 88149605 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 88099067 88158368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88099067 88158368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88132920 89535377 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EML5,GALC,GPR65,KCNK10,LOC283587,PTPN21,SPATA7,TTC8,ZC3H14 chr1 48813495 48847154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPATA6 chr14 88136120 88136195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88144593 88145420 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 88150958 88328910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88150958 88328910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 88150958 88328910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88165982 88199055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 88183117 88183217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88204587 88204687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88213462 88244904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 88221566 88221666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88266555 88266655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88356394 88356529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 88356394 88356529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88356394 88356532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 88360671 88414088 Copy number Autism exome sequencing 22495311 GALC chr14 88360731 88414084 Gain and loss Pancreatic cancer SNP array 17952125 GALC chr14 88360731 88414087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALC chr14 88360731 88414087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALC chr14 88370290 88370390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88375994 88388896 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 NOT_FOUND chr14 88376262 88376358 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 88376262 88376360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 48841463 48842096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPATA6 chr14 88435402 88435474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALC chr14 88450740 88450820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALC chr1 4884759 4884791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88478582 88478830 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR65 chr14 88478582 88478831 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GPR65 chr14 88556077 88556177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88558976 88559076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88632756 89467875 Gain Bladder cancer array-CGH 21909424 EML5,KCNK10,PTPN21,SPATA7,TTC8,ZC3H14 chr14 88646261 88647239 Gain and loss Pancreatic cancer SNP array 17952125 KCNK10 chr14 88662719 88662819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNK10 chr14 88692268 89155247 Loss Renal cell carcinoma Affymetrix GeneChip Human Mapping 10K Array 18592004 EML5,KCNK10,PTPN21,SPATA7,ZC3H14 chr14 88692282 88953207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNK10,PTPN21,SPATA7 chr14 88692282 88953207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK10,PTPN21,SPATA7 chr14 88693454 88693642 Gain and loss Pancreatic cancer SNP array 17952125 KCNK10 chr14 88697497 88953101 Gain and loss Pancreatic cancer SNP array 17952125 KCNK10,PTPN21,SPATA7 chr14 88704882 89535377 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EML5,KCNK10,PTPN21,SPATA7,TTC8,ZC3H14 chr14 88743587 88743687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNK10 chr14 88752354 91109154 Gain small cell lung cancer Real-time Quantitative PCR 17426248 CALM1,EFCAB11,EML5,FOXN3,FOXN3-AS1,FOXN3-AS2,KCNK10,KCNK13,LINC00642,NRDE2,PSMC1,PTPN21,SPATA7,TDP1,TTC7B,TTC8,ZC3H14 chr14 88826279 88827676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 88826297 88827368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 88848754 88848814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 88900000 106368585 Deletion Biliary cancer Array CGH 19435499 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 88900000 106368585 Loss Follicular lymphoma aCGH 20505157 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 88900000 106368585 Rearrangement Acute lymphoblastic leukemia FISH 20139093 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 88900000 106368585 Translocation Follicular lymphoma aCGH 20505157 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 88900000 106368585 Translocation T-cell prolymphocytic leukemia References 19278963 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EML5,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,PTPN21,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SPATA7,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,TTC8,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZC3H14,ZFYVE21,ZNF839 chr14 88900000 90500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 EFCAB11,EML5,FOXN3,FOXN3-AS1,FOXN3-AS2,PTPN21,SPATA7,TDP1,TTC8,ZC3H14 chr14 88900000 95400000 Deletion Biliary cancer Array CGH 19435499 ASB2,ATXN3,BTBD7,C14orf142,C14orf159,CALM1,CATSPERB,CCDC88C,CHGA,COX8C,CPSF2,DDX24,EFCAB11,EML5,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GOLGA5,GPR68,GSC,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,KCNK13,LGMN,LINC00521,LINC00642,MOAP1,NDUFB1,NRDE2,OTUB2,PPP4R4,PRIMA1,PSMC1,PTPN21,RIN3,RPS6KA5,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SLC24A4,SMEK1,SNORA11B,SPATA7,TC2N,TDP1,TMEM251,TRIP11,TTC7B,TTC8,UBR7,UNC79,ZC3H14 chr14 88923778 88925959 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 48900000 52200000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 AGBL4,BEND5,C1orf185,CDKN2C,DMRTA2,ELAVL4,EPS15,FAF1,OSBPL9,RNF11,SPATA6,TTC39A chr1 48905564 48954610 Gain and loss Pancreatic cancer SNP array 17952125 SPATA6 chr14 89103573 89103704 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EML5 chr14 89106670 89106770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML5 chr14 89112313 89113569 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89121759 89121854 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89121759 89121858 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89130447 92239415 Gain Prostate cancer Array CGH 18632612 C14orf159,CALM1,CATSPERB,CCDC88C,EFCAB11,EML5,FOXN3,FOXN3-AS1,FOXN3-AS2,GPR68,KCNK13,LINC00642,NRDE2,PSMC1,RPS6KA5,SMEK1,SNORA11B,TDP1,TTC7B,TTC8 chr14 89158015 89158252 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89158015 89158304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML5 chr14 89158015 89158337 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89164585 89164628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML5 chr14 89186891 89187000 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89186892 89187000 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89208392 89208487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML5 chr14 89248608 89248847 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89248608 89248922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML5 chr14 89248608 89248934 Gain and loss Pancreatic cancer SNP array 17952125 EML5 chr14 89273983 89274384 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 89304117 89304217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC8 chr14 89331617 89490796 Gain and loss Pancreatic cancer SNP array 17952125 TTC8 chr14 89331669 89490827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC8 chr14 89331669 89490827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC8 chr14 89411118 89411330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 89411118 89411330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 89427912 89428529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 89436227 92332282 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1021K arrays 21546498 C14orf159,CALM1,CATSPERB,CCDC88C,EFCAB11,FOXN3,FOXN3-AS1,FOXN3-AS2,GPR68,KCNK13,LINC00642,NRDE2,PSMC1,RPS6KA5,SMEK1,SNORA11B,TC2N,TDP1,TTC7B chr14 89461556 90389892 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EFCAB11,FOXN3,FOXN3-AS1,FOXN3-AS2 chr14 89471846 89471946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 89491999 89580859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 89491999 89580859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 89492035 89579441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 89579767 89624515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FOXN3 chr14 89587253 106356482 Gain Developmental delay affymetrix genechip 500K/SNP 6.61 array 21147756 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 89597862 89721952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr14 89597862 89721952 Gain and loss Pancreatic cancer SNP array 17952125 FOXN3 chr14 89597862 89721952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr1 48966131 49015177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr1 48966131 49015177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr14 89709722 89709812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3 chr14 89713319 89713425 Gain and loss Pancreatic cancer SNP array 17952125 FOXN3 chr14 89713319 89713426 Gain and loss Pancreatic cancer SNP array 17952125 FOXN3 chr14 89713319 89713427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr14 89734378 89734478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3 chr14 89746349 89746449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3 chr14 89792647 89808719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr14 89792647 89808719 Gain and loss Pancreatic cancer SNP array 17952125 FOXN3 chr14 89792647 89808719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr14 89800000 107349540 Copy number T-cell acute lymphoblastic leukemia References 17934490 ADAM6,ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0125,KIAA0284,KIF26A,KLC1,LGMN,LINC00221,LINC00226,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 89800000 107349540 Deletion Hepatocellular carcinoma Array CGH 16750200 ADAM6,ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0125,KIAA0284,KIF26A,KLC1,LGMN,LINC00221,LINC00226,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 89800000 107349540 Loss Primary mediastinal b-cell lymphoma Array CGH 17728785 ADAM6,ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EFCAB11,EIF5,ELK2AP,EML1,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,FOXN3,FOXN3-AS1,FOXN3-AS2,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0125,KIAA0284,KIF26A,KLC1,LGMN,LINC00221,LINC00226,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 89800000 91900000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 C14orf159,CALM1,CCDC88C,EFCAB11,FOXN3,FOXN3-AS1,FOXN3-AS2,GPR68,KCNK13,LINC00642,NRDE2,PSMC1,RPS6KA5,SNORA11B,TDP1,TTC7B chr14 89807959 89811638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr14 89814151 89868032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr14 89814151 89868032 Gain and loss Pancreatic cancer SNP array 17952125 FOXN3 chr14 89814151 89868032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr1 48983578 50555274 LOH Normal High-resolution SNP genotyping 21211785 AGBL4,BEND5,ELAVL4 chr14 89867688 89867820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3 chr14 89902794 89903276 Gain and loss Pancreatic cancer SNP array 17952125 FOXN3 chr14 89907214 89907314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3 chr14 89918001 89920500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FOXN3 chr14 89920501 90045000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FOXN3,FOXN3-AS2 chr14 89925538 89925633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3 chr14 89933126 89944148 Gain and loss Pancreatic cancer SNP array 17952125 FOXN3 chr14 89933126 89944363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr14 89933126 89944363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN3 chr14 89960687 89960765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3 chr14 90017794 90017884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3 chr14 90042701 90042801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN3,FOXN3-AS2 chr14 90045001 90124000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FOXN3 chr14 90061486 90062091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FOXN3 chr14 90076686 90352514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB11,FOXN3 chr14 90076686 90352514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB11,FOXN3 chr14 90076687 90322346 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB11,FOXN3 chr14 90131987 90132071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 49014463 49014563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 90236783 90236877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 90302620 90303125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB11 chr14 90302670 90303086 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB11 chr14 90309501 90383500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EFCAB11 chr14 90357585 90929788 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CALM1,EFCAB11,KCNK13,LINC00642,NRDE2,PSMC1,TDP1 chr14 90365218 90399154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EFCAB11 chr14 90369742 90795412 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EFCAB11,KCNK13,NRDE2,PSMC1,TDP1 chr14 90385998 90386435 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB11 chr14 90389892 90662932 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EFCAB11,KCNK13,TDP1 chr14 90406922 90596746 Gain or loss Breast cancer - 20668451 EFCAB11,KCNK13,TDP1 chr14 90406922 90596746 Gain or loss Cancer - 20668451 EFCAB11,KCNK13,TDP1 chr14 90406922 90596746 Gain or loss Lung cancer - 20668451 EFCAB11,KCNK13,TDP1 chr14 90406922 90596746 Gain or loss Ovarian cancer - 20668451 EFCAB11,KCNK13,TDP1 chr14 90406922 90596746 Gain or loss Pancreas cancer - 20668451 EFCAB11,KCNK13,TDP1 chr14 90406922 90596746 Gain or loss Prostate cancer - 20668451 EFCAB11,KCNK13,TDP1 chr14 90406925 90596746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB11,KCNK13,TDP1 chr14 90406925 90596746 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB11,KCNK13,TDP1 chr14 90406925 90596746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB11,KCNK13,TDP1 chr14 9042302 19029423 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr14 90456942 90457004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TDP1 chr14 90472983 90604391 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KCNK13,TDP1 chr14 90486771 90496410 Amplification or deletion Cancer Array CGH 17440070 TDP1 chr14 90500000 106368585 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,ATXN3,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf159,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CALM1,CATSPERB,CCDC85C,CCDC88C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CPSF2,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,FAM181A,FAM181A-AS1,FBLN5,GLRX5,GOLGA5,GPR132,GPR68,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KCNK13,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LINC00642,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NDUFB1,NRDE2,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,PSMC1,RCOR1,RD3L,RIN3,RPS6KA5,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SMEK1,SNHG10,SNORA11B,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TC2N,TCL1A,TCL1B,TCL6,TDP1,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRIP11,TRMT61A,TTC7B,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 90500000 92800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATXN3,C14orf159,CALM1,CATSPERB,CCDC88C,CPSF2,FBLN5,GPR68,KCNK13,LINC00642,NDUFB1,NRDE2,PSMC1,RPS6KA5,SLC24A4,SMEK1,SNORA11B,TC2N,TDP1,TRIP11,TTC7B chr14 9050738 19382004 Copy number Lung cancer paired-end sequencing 18438408 OR11H12 chr14 90516954 90517044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 9052260 19141414 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr14 90529731 90529828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNK13 chr14 90563282 90563368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNK13 chr14 90618501 90751500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNK13,NRDE2,PSMC1 chr14 90627175 90627235 Gain and loss Pancreatic cancer SNP array 17952125 KCNK13 chr14 90650110 90761456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNK13,NRDE2,PSMC1 chr14 90650110 90761456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK13,NRDE2,PSMC1 chr14 90650159 90761456 Gain and loss Pancreatic cancer SNP array 17952125 KCNK13,NRDE2,PSMC1 chr14 90662522 90662650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 90662932 90935972 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CALM1,LINC00642,NRDE2,PSMC1 chr1 49070450 53347193 LOH Normal High-resolution SNP genotyping 21211785 AGBL4,BEND5,BTF3L4,C1orf185,CC2D1B,CDKN2C,DMRTA2,ELAVL4,EPS15,FAF1,FAM159A,GPX7,KTI12,MIR761,NRD1,ORC1,OSBPL9,PRPF38A,RAB3B,RNF11,SELRC1,TTC39A,TXNDC12,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr14 90718114 90750643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRDE2,PSMC1 chr14 90747882 90748007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRDE2 chr14 90751501 90955000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CALM1,LINC00642,NRDE2 chr14 90761119 90768733 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NRDE2 chr14 90768630 90789977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRDE2 chr14 90768630 90789977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRDE2 chr14 90769965 90790022 Gain and loss Pancreatic cancer SNP array 17952125 NRDE2 chr14 90795412 93973748 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATXN3,BTBD7,C14orf142,C14orf159,CALM1,CATSPERB,CCDC88C,CHGA,COX8C,CPSF2,FBLN5,GOLGA5,GPR68,ITPK1,ITPK1-AS1,LGMN,LINC00642,MOAP1,NDUFB1,NRDE2,RIN3,RPS6KA5,SLC24A4,SMEK1,SNORA11B,TC2N,TMEM251,TRIP11,TTC7B,UBR7,UNC79 chr14 90807422 90849808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 90807422 90953886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALM1,LINC00642 chr14 90825720 90842644 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 90835979 90836059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 90857217 90953905 Gain and loss Pancreatic cancer SNP array 17952125 CALM1,LINC00642 chr14 90870347 90871347 Loss Osteosarcoma References 21215367 CALM1 chr14 90906379 90907379 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 90906383 90907383 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 90906448 90907448 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 90910859 91987193 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 C14orf159,CCDC88C,GPR68,LINC00642,RPS6KA5,SMEK1,SNORA11B,TTC7B chr14 90911869 90912037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 90950788 90950872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 90957576 90958576 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 90957960 90958960 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 90969767 90969867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 90993708 91046397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC7B chr14 90993708 91046397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC7B chr14 90993708 91046575 Gain and loss Pancreatic cancer SNP array 17952125 TTC7B chr1 49100868 49100968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 91009455 91009555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91022681 91023407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC7B chr14 91024899 91848310 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C14orf159,CCDC88C,GPR68,RPS6KA5,SNORA11B,TTC7B chr14 91024899 92099147 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C14orf159,CATSPERB,CCDC88C,GPR68,RPS6KA5,SMEK1,SNORA11B,TTC7B chr14 91027018 91027118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91029284 91030146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC7B chr1 49107804 49193417 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGBL4 chr14 91079139 91079204 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 TTC7B chr14 91098487 91098763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91110277 91110709 Gain and loss Pancreatic cancer SNP array 17952125 TTC7B chr14 91110277 91110709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC7B chr14 91116871 91268166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC7B chr14 91116871 91268166 Gain and loss Pancreatic cancer SNP array 17952125 TTC7B chr14 91116871 91268166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC7B chr14 91126976 91127068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91139802 91139870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91147734 91147829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91168913 91175422 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC7B chr14 91185188 91185316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91247563 91247633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91250743 91296322 Amplification or deletion Cancer Array CGH 17440070 TTC7B chr14 91251012 91251227 Gain and loss Pancreatic cancer SNP array 17952125 TTC7B chr14 91251013 91251227 Gain and loss Pancreatic cancer SNP array 17952125 TTC7B chr14 91251013 91251227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC7B chr14 91266035 91266135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7B chr14 91316281 91372436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA5 chr14 91316281 91372436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA5 chr14 91316281 91403610 Gain and loss Pancreatic cancer SNP array 17952125 RPS6KA5 chr1 49133444 49143065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGBL4 chr14 91339958 91340070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA5 chr14 91339961 91340069 Gain and loss Pancreatic cancer SNP array 17952125 RPS6KA5 chr14 91339986 91340069 Gain and loss Pancreatic cancer SNP array 17952125 RPS6KA5 chr14 91405511 91490499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA5 chr14 91405511 91490499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA5 chr14 91405514 91483788 Gain and loss Pancreatic cancer SNP array 17952125 RPS6KA5 chr14 91451809 91569634 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 RPS6KA5 chr14 91505214 91576570 Gain or loss Breast cancer - 20668451 RPS6KA5 chr14 91505214 91576570 Gain or loss Cancer - 20668451 RPS6KA5 chr14 91505214 91576570 Gain or loss Lung cancer - 20668451 RPS6KA5 chr14 91505214 91576570 Gain or loss Ovarian cancer - 20668451 RPS6KA5 chr14 91505214 91576570 Gain or loss Pancreas cancer - 20668451 RPS6KA5 chr14 91505214 91576570 Gain or loss Prostate cancer - 20668451 RPS6KA5 chr14 91505614 91576139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA5 chr14 91505614 91576139 Gain and loss Pancreatic cancer SNP array 17952125 RPS6KA5 chr14 91505614 91576139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS6KA5 chr14 91562663 91562884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 91576132 91577666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 91576287 91576617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 91598883 91642707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf159 chr14 91598883 91642707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf159 chr14 91599683 91642707 Gain and loss Pancreatic cancer SNP array 17952125 C14orf159 chr14 91649642 91657428 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C14orf159 chr14 91652220 91657906 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 C14orf159 chr14 91652223 91657906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf159 chr14 91652223 91657906 Gain and loss Pancreatic cancer SNP array 17952125 C14orf159 chr14 91652223 91657906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf159 chr14 91655432 91685128 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C14orf159 chr14 91656251 91656336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C14orf159 chr14 91658082 91700296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf159,GPR68 chr14 91658082 91700296 Gain and loss Pancreatic cancer SNP array 17952125 C14orf159,GPR68 chr14 91658082 91700296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf159,GPR68 chr14 91676289 91708615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C14orf159,GPR68 chr1 49167916 49200431 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGBL4,BEND5 chr14 91715292 91715433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR68 chr1 49172682 50376503 LOH Normal High-resolution SNP genotyping 21211785 AGBL4,BEND5 chr14 91734882 91734967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 91782522 91782622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC88C chr14 91801799 91801904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88C chr14 91801802 91801904 Gain and loss Pancreatic cancer SNP array 17952125 CCDC88C chr14 91801804 91801904 Gain and loss Pancreatic cancer SNP array 17952125 CCDC88C chr14 91810001 92166500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CATSPERB,CCDC88C,SMEK1 chr14 91858674 92032348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC88C,SMEK1 chr14 91858674 92032348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88C,SMEK1 chr14 91858678 92032348 Gain and loss Pancreatic cancer SNP array 17952125 CCDC88C,SMEK1 chr14 91872240 92814692 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATXN3,CATSPERB,CCDC88C,CPSF2,FBLN5,NDUFB1,SLC24A4,SMEK1,TC2N,TRIP11 chr14 91873497 91875046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC88C chr14 91900000 94700000 Loss Breast cancer Microarray-based CGH 17133270 ASB2,ATXN3,BTBD7,C14orf142,CATSPERB,CHGA,COX8C,CPSF2,DDX24,FAM181A,FAM181A-AS1,FBLN5,GOLGA5,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,LGMN,LINC00521,MOAP1,NDUFB1,OTUB2,PPP4R4,PRIMA1,RIN3,SLC24A4,SMEK1,TC2N,TMEM251,TRIP11,UBR7,UNC79 chr14 91996705 92036873 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr14 92049877 92225087 Copy number Lung cancer - 20668451 CATSPERB chr14 92049877 92225087 Gain or loss Breast cancer - 20668451 CATSPERB chr14 92049877 92225087 Gain or loss Cancer - 20668451 CATSPERB chr14 92049877 92225087 Gain or loss Lung cancer - 20668451 CATSPERB chr14 92049877 92225087 Gain or loss Ovarian cancer - 20668451 CATSPERB chr14 92049877 92225087 Gain or loss Pancreas cancer - 20668451 CATSPERB chr14 92049877 92225087 Gain or loss Prostate cancer - 20668451 CATSPERB chr14 92049878 92225085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPERB chr14 92049878 92225085 Gain and loss Pancreatic cancer SNP array 17952125 CATSPERB chr14 92049878 92225085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPERB chr14 92084096 93355719 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATXN3,CATSPERB,CPSF2,FBLN5,GOLGA5,LGMN,NDUFB1,RIN3,SLC24A4,TC2N,TRIP11 chr14 92125054 92125244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CATSPERB chr14 92125066 92125159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CATSPERB chr14 92166501 92229000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CATSPERB chr14 92169585 92248220 Gain Normal Birdsuite, version 1.5.2 22087296 CATSPERB,TC2N chr14 92176173 92176273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CATSPERB chr14 92217782 92248279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TC2N chr14 92220462 92220541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 92239910 92284704 Gain and loss Pancreatic cancer SNP array 17952125 TC2N chr14 92239910 92284765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TC2N chr14 92239910 92284765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TC2N chr14 92247404 92293743 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 TC2N chr1 49226941 49227041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4,BEND5 chr14 92330403 92376057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBLN5,TC2N chr14 92330403 92376057 Gain and loss Pancreatic cancer SNP array 17952125 FBLN5,TC2N chr14 92330403 92376057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBLN5,TC2N chr14 92335651 92335751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 92346202 92346747 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FBLN5 chr14 92451501 92468000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIP11 chr14 92459198 92471389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIP11 chr14 92459198 92471389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIP11 chr14 92459245 92471389 Gain and loss Pancreatic cancer SNP array 17952125 TRIP11 chr14 92464304 92509147 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRIP11 chr14 92468001 92483000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIP11 chr14 92469810 92469910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIP11 chr14 92473012 92651980 Gain and loss Pancreatic cancer SNP array 17952125 ATXN3,CPSF2,NDUFB1,TRIP11 chr14 92474581 92651980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN3,CPSF2,NDUFB1,TRIP11 chr14 92474581 92651980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN3,CPSF2,NDUFB1,TRIP11 chr14 92476223 92476255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIP11 chr14 92476815 92496373 Loss Autism - 20841430 TRIP11 chr14 92483001 92652500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN3,CPSF2,NDUFB1,TRIP11 chr14 92522983 92554904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATXN3 chr14 92571144 92602894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATXN3,CPSF2,NDUFB1 chr14 92594750 92595998 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 CPSF2 chr14 92630000 99780000 Loss Breast cancer aCGH 21509527 AK7,ASB2,ATG2B,BCL11B,BDKRB1,BDKRB2,BTBD7,C14orf132,C14orf142,C14orf177,C14orf64,CHGA,CLMN,COX8C,CPSF2,DDX24,DICER1,DICER1-AS1,FAM181A,FAM181A-AS1,GLRX5,GOLGA5,GSC,GSKIP,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,LGMN,LINC00341,LINC00521,LINC00617,LOC100129345,MIR3173,MOAP1,OTUB2,PAPOLA,PPP4R4,PRIMA1,RIN3,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SLC24A4,SNHG10,SYNE3,TCL1A,TCL1B,TCL6,TMEM251,UBR7,UNC79,VRK1 chr14 92652501 92722500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 92718295 92721002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 92718295 92721002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 92718304 92720995 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 92718476 92719370 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 92721082 92723180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 92721082 92723186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 92738990 92743196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 92738990 92743212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 92738990 92743212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 92743154 92765306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 92743154 92765306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 92743355 92765303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 92759697 92760214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 92759697 92760214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 92773649 92869138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC24A4 chr14 92773649 92869138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC24A4 chr14 92776912 92869191 Gain and loss Pancreatic cancer SNP array 17952125 SLC24A4 chr14 92782241 92782929 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 92782265 92782904 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 92800000 106368585 Gain Malignant fibrous histiocytomas aCGH 21085701 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CHGA,CINP,CKB,CLMN,COX8C,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,FAM181A,FAM181A-AS1,GLRX5,GOLGA5,GPR132,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KIAA0284,KIF26A,KLC1,LGMN,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,RCOR1,RD3L,RIN3,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC24A4,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRMT61A,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 92800000 95400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASB2,BTBD7,C14orf142,CHGA,COX8C,DDX24,FAM181A,FAM181A-AS1,GOLGA5,GSC,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,LGMN,LINC00521,MOAP1,OTUB2,PPP4R4,PRIMA1,RIN3,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SLC24A4,TMEM251,UBR7,UNC79 chr1 49282774 49282874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 92869318 93243442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LGMN,RIN3,SLC24A4 chr14 92869318 93243442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGMN,RIN3,SLC24A4 chr14 92869324 93243442 Gain and loss Pancreatic cancer SNP array 17952125 LGMN,RIN3,SLC24A4 chr14 92878227 92878312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A4 chr14 92883290 92884453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC24A4 chr14 92883290 92884453 Gain and loss Pancreatic cancer SNP array 17952125 SLC24A4 chr14 92883290 92884453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC24A4 chr14 92904344 92937896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC24A4 chr14 92905452 92905502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A4 chr14 92933238 92933333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC24A4 chr14 92933240 92933333 Gain and loss Pancreatic cancer SNP array 17952125 SLC24A4 chr14 92933241 92933333 Gain and loss Pancreatic cancer SNP array 17952125 SLC24A4 chr1 4929346 4929446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 92975910 93273435 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1027K arrays 21546498 GOLGA5,LGMN,RIN3 chr1 49300185 49300285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 93055617 93055712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIN3 chr1 49313712 49320229 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AGBL4 chr14 93195249 93195349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LGMN chr14 93206084 93239585 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LGMN chr14 93218600 95204481 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ASB2,BTBD7,C14orf142,CHGA,COX8C,DDX24,FAM181A,FAM181A-AS1,GOLGA5,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,LINC00521,MOAP1,OTUB2,PPP4R4,PRIMA1,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,TMEM251,UBR7,UNC79 chr14 93244071 93995401 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BTBD7,C14orf142,CHGA,COX8C,GOLGA5,ITPK1,ITPK1-AS1,MOAP1,TMEM251,UBR7,UNC79 chr14 93248501 93283500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GOLGA5 chr14 93251667 93251721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 93254397 93324580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA5 chr14 93254397 93324580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA5 chr14 93257137 93323858 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA5 chr14 93283501 93359500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GOLGA5 chr14 93305040 93305095 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 GOLGA5 chr14 93305095 93305150 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GOLGA5 chr14 93339833 95161269 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASB2,BTBD7,C14orf142,CHGA,COX8C,DDX24,FAM181A,FAM181A-AS1,IFI27,IFI27L1,IFI27L2,ITPK1,ITPK1-AS1,LINC00521,MOAP1,OTUB2,PPP4R4,PRIMA1,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,TMEM251,UBR7,UNC79 chr14 93354374 93354474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 93354592 93354681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 93355719 94501808 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ASB2,BTBD7,C14orf142,CHGA,COX8C,FAM181A,FAM181A-AS1,ITPK1,ITPK1-AS1,LINC00521,MOAP1,OTUB2,PRIMA1,TMEM251,UBR7,UNC79 chr14 93359501 93361000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 93361001 93461500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHGA,ITPK1 chr14 93362873 93363023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 93367136 94452890 Deletion Breast cancer FISH 17142309 ASB2,BTBD7,C14orf142,CHGA,COX8C,FAM181A,FAM181A-AS1,ITPK1,ITPK1-AS1,MOAP1,PRIMA1,TMEM251,UBR7,UNC79 chr1 49337003 49337428 Gain and loss Pancreatic cancer SNP array 17952125 AGBL4 chr14 93372168 93372253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 49337581 49886371 Gain and loss Pancreatic cancer SNP array 17952125 AGBL4 chr14 93455011 93465697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPK1 chr14 93455011 93465697 Gain and loss Pancreatic cancer SNP array 17952125 ITPK1 chr14 93455011 93465697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPK1 chr14 93461501 93465500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITPK1 chr14 93465501 93578000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITPK1,ITPK1-AS1 chr14 93470266 93493520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPK1 chr14 93470266 93493520 Gain and loss Pancreatic cancer SNP array 17952125 ITPK1 chr14 93470266 93493520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPK1 chr14 93493789 106356482 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASB2,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,BTBD7,C14orf132,C14orf142,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CLMN,COX8C,CRIP1,CRIP2,CYP46A1,DDX24,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,FAM181A,FAM181A-AS1,GLRX5,GPR132,GSC,GSKIP,HHIPL1,HSP90AA1,IFI27,IFI27L1,IFI27L2,INF2,ITPK1,ITPK1-AS1,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00341,LINC00521,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOAP1,MOK,MTA1,NUDT14,OTUB2,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,PPP4R4,PRIMA1,RCOR1,RD3L,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SIVA1,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TMEM251,TNFAIP2,TRAF3,TRMT61A,UBR7,UNC79,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 93501647 93502647 Loss Osteosarcoma References 21215367 ITPK1 chr14 93503180 93537548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITPK1,ITPK1-AS1 chr14 93533395 93544962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPK1,ITPK1-AS1 chr14 93533395 93544962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPK1,ITPK1-AS1 chr14 93533395 93547788 Gain and loss Pancreatic cancer SNP array 17952125 ITPK1,ITPK1-AS1 chr14 93541559 93542559 Loss Chordoma References 21215367 ITPK1 chr14 93562476 93585029 Gain or loss Breast cancer - 20668451 ITPK1 chr14 93562476 93585029 Gain or loss Cancer - 20668451 ITPK1 chr14 93562476 93585029 Gain or loss Lung cancer - 20668451 ITPK1 chr14 93562476 93585029 Gain or loss Ovarian cancer - 20668451 ITPK1 chr14 93562476 93585029 Gain or loss Pancreas cancer - 20668451 ITPK1 chr14 93562476 93585029 Gain or loss Prostate cancer - 20668451 ITPK1 chr14 93562477 93585025 Gain and loss Pancreatic cancer SNP array 17952125 ITPK1 chr14 93562477 93585029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPK1 chr14 93562477 93585029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPK1 chr1 49357476 49357667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr1 49357714 49357814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 93578001 93581000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITPK1 chr14 93581001 93711500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTBD7,C14orf142,ITPK1,MOAP1,TMEM251,UBR7 chr14 93587022 93617311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 93587037 93617311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 93587037 93617311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 93607299 93607399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 93617381 93638808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 93617381 93638808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 93617381 93638808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 93646832 93652786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MOAP1,TMEM251 chr14 93646832 93652786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOAP1,TMEM251 chr14 93646835 93652785 Gain and loss Pancreatic cancer SNP array 17952125 MOAP1,TMEM251 chr14 93663871 93665710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 93663871 93665710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 93663871 93665710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 93710402 93815825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD7,COX8C,UNC79 chr14 93710402 93815825 Gain and loss Pancreatic cancer SNP array 17952125 BTBD7,COX8C,UNC79 chr14 93710402 93815825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD7,COX8C,UNC79 chr14 93819405 93829361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93819405 93829361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93819407 93829361 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 93825001 94303500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRIMA1,UNC79 chr14 93831174 96634774 Copy number Schizophrenia - 18511947 ASB2,C14orf132,CLMN,DDX24,DICER1,DICER1-AS1,FAM181A,FAM181A-AS1,GLRX5,GSC,IFI27,IFI27L1,IFI27L2,LINC00341,LINC00521,LINC00617,MIR3173,OTUB2,PPP4R4,PRIMA1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SNHG10,SYNE3,TCL1A,TCL1B,TCL6,UNC79 chr14 93840339 93859426 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 93840339 93859441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93840339 93859441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93863038 93863138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC79 chr14 93897256 93930602 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UNC79 chr14 93900404 93902788 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 93900404 93902788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93903764 93903864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC79 chr14 93914451 93926782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93914451 93926782 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 93914451 93926782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93931099 93931199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC79 chr14 93944554 93944644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC79 chr14 93973748 94739954 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ASB2,DDX24,FAM181A,FAM181A-AS1,IFI27,IFI27L1,IFI27L2,LINC00521,OTUB2,PPP4R4,PRIMA1,UNC79 chr14 93978554 93988875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93978554 93988875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93978585 93988871 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 93986171 94014003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UNC79 chr14 93989829 93989928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC79 chr14 93998813 94012262 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 93998813 94012423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 93998813 94012423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr1 49400762 49440618 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGBL4 chr14 94023374 94053934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 94023374 94053934 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 94023374 94053934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 94058063 94076797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UNC79 chr14 94062221 94073162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UNC79 chr14 94084080 94107974 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC79 chr14 94097536 94105994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 94097536 94105994 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 94097536 94105994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 94117564 94129200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 94117564 94129200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 94117564 94129204 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 94125861 94134478 Amplification or deletion Cancer Array CGH 17440070 UNC79 chr14 94141759 94142759 Gain Chordoma References 21215367 UNC79 chr14 94148387 94160150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 94148387 94160150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC79 chr14 94148481 94160144 Gain and loss Pancreatic cancer SNP array 17952125 UNC79 chr14 94166435 94170486 Amplification or deletion Cancer Array CGH 17440070 UNC79 chr14 94176815 94183084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 94176815 94183084 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 94176815 94183084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 94177144 94177244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 94235142 94245890 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRIMA1 chr14 94262301 94263331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 94268591 94268891 Gain Chordoma References 21215367 NOT_FOUND chr14 94303501 94309500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 94304314 94306252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 94304314 94306252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 94304314 94306252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 94309501 94958500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASB2,DDX24,FAM181A,FAM181A-AS1,IFI27,IFI27L1,IFI27L2,LINC00521,OTUB2,PPP4R4,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA6,SERPINA9 chr14 94332705 94333168 Loss Normal 244K array 17666407 NOT_FOUND chr14 94426600 94429892 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ASB2 chr14 94431794 95161269 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASB2,DDX24,IFI27,IFI27L1,IFI27L2,LINC00521,OTUB2,PPP4R4,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9 chr14 94447489 94447572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 94462914 94462989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 94476178 94476433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00521 chr14 94508815 94508909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTUB2 chr1 49451891 49451971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 94525195 94526195 Loss Osteosarcoma References 21215367 DDX24 chr14 94547119 94547168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX24 chr14 94578320 94578414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFI27 chr14 94622319 94693512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP4R4 chr14 94622319 94693512 Gain and loss Pancreatic cancer SNP array 17952125 PPP4R4 chr14 94622319 94693512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R4 chr14 94644520 94644520 Copy number Prostate cancer Illumina GA II sequencer 21307934 PPP4R4 chr14 94693777 94716023 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PPP4R4 chr14 94700000 101400000 Loss and deletion Multiple myeloma Array CGH 16616336 AK7,ATG2B,BCL11B,BDKRB1,BDKRB2,BEGAIN,C14orf132,C14orf177,C14orf64,CCDC85C,CCNK,CLMN,CYP46A1,DEGS2,DICER1,DICER1-AS1,DLK1,EML1,EVL,GLRX5,GSC,GSKIP,HHIPL1,LINC00341,LINC00523,LINC00617,LOC100129345,MEG3,MEG8,MIR127,MIR136,MIR2392,MIR3173,MIR337,MIR345,MIR431,MIR432,MIR433,MIR493,MIR5698,MIR665,MIR770,PAPOLA,PPP4R4,RTL1,SCARNA13,SERPINA1,SERPINA10,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9,SETD3,SLC25A29,SLC25A47,SNHG10,SNORD113-1,SNORD113-2,SYNE3,TCL1A,TCL1B,TCL6,VRK1,WARS,WDR25,YY1 chr14 94708613 94708713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP4R4 chr14 94713573 94716023 Gain and loss Pancreatic cancer SNP array 17952125 PPP4R4 chr14 94713733 94714969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R4 chr14 94727618 94855955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP4R4,SERPINA1,SERPINA10,SERPINA6 chr14 94727618 94855955 Gain and loss Pancreatic cancer SNP array 17952125 PPP4R4,SERPINA1,SERPINA10,SERPINA6 chr14 94727618 94855955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R4,SERPINA1,SERPINA10,SERPINA6 chr14 94729283 94730283 Gain Chordoma References 21215367 PPP4R4 chr14 94763060 94764578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 94843407 94843507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERPINA1 chr14 94902467 94902526 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 94945157 94945729 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 94953584 95011926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERPINA12 chr14 94953584 95011926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERPINA12 chr14 94953699 95011926 Gain and loss Pancreatic cancer SNP array 17952125 SERPINA12 chr14 94958501 95050500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SERPINA12,SERPINA4,SERPINA5 chr14 94963142 94963237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERPINA12 chr14 94993423 101036144 Gain small cell lung cancer Real-time Quantitative PCR 17426248 AK7,ATG2B,BCL11B,BDKRB1,BDKRB2,BEGAIN,C14orf132,C14orf177,C14orf64,CCDC85C,CCNK,CLMN,CYP46A1,DEGS2,DICER1,DICER1-AS1,EML1,EVL,GLRX5,GSC,GSKIP,HHIPL1,LINC00341,LINC00617,LOC100129345,MIR3173,MIR345,MIR5698,PAPOLA,SCARNA13,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SETD3,SLC25A29,SLC25A47,SNHG10,SYNE3,TCL1A,TCL1B,TCL6,VRK1,WARS,WDR25,YY1 chr14 95024500 95024600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95037812 95037912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95050501 95052500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SERPINA5 chr14 95056903 95056992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERPINA5 chr14 95057986 95085817 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 SERPINA3,SERPINA5 chr14 95066311 95136468 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 SERPINA13,SERPINA3 chr14 95069001 95070962 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr14 95069445 95069719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 95069445 95069719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95070501 95072500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 95071076 95080808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERPINA3 chr14 95071076 95080808 Gain and loss Pancreatic cancer SNP array 17952125 SERPINA3 chr14 95071076 95080808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERPINA3 chr1 49512932 49513032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 95130522 95211348 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr14 95141458 106356482 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,C14orf132,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CLMN,CRIP1,CRIP2,CYP46A1,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GLRX5,GPR132,GSC,GSKIP,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00341,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SCARNA13,SETD3,SIVA1,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 95182713 95182810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95186588 95228718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95186588 95228718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95187267 95228720 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 95187267 95228720 Gain or loss Cancer - 20668451 NOT_FOUND chr14 95187267 95228720 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 95187267 95228720 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 95187267 95228720 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 95187267 95228720 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 95198696 95228719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 95204481 96887431 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AK7,ATG2B,BDKRB1,BDKRB2,C14orf132,CLMN,DICER1,DICER1-AS1,GLRX5,GSC,GSKIP,LINC00341,LINC00617,MIR3173,SCARNA13,SNHG10,SYNE3,TCL1A,TCL1B,TCL6 chr14 95222516 95228719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95222516 95228719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 4952248 20897624 Deletion Glioblastoma multiforme 244K oligo array 21138945 AADACL3,AADACL4,ACOT7,ACTL8,AGMAT,AGTRAP,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF19,ATP13A2,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf200,C1orf64,CA6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CELA2A,CELA2B,CHD5,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC11,DNAJC16,DRAXIN,EFHD2,EMC1,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,ESPNP,EXOSC10,FAM131C,FAM43B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,GPR153,GPR157,H6PD,HES2,HES3,HNRNPCL1,HSPB7,HTR6,ICMT,IFFO2,IGSF21,KAZN,KCNAB2,KIAA2013,KIF1B,KLHDC7A,KLHL21,LOC100506730,LOC339505,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFAP2,MFN2,MIIP,MINOS1,MIR34A,MIR3675,MIR4252,MIR4417,MIR4632,MIR4689,MIR4695,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,NBL1,NBPF1,NECAP2,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PARK7,PAX7,PDPN,PER3,PEX14,PGD,PHF13,PIK3CD,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHG5,PLEKHM2,PLOD1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RCC2,RERE,RNF186,RNF207,RPL22,RSC1A1,RSG1,SDHB,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SZRD1,TARDBP,TAS1R1,TAS1R2,THAP3,TMCO4,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,UBE4B,UBIAD1,UBR4,UBXN10,UQCRHL,UTS2,VAMP3,VPS13D,VWA5B1,ZBTB17,ZBTB48 chr14 95232016 95232091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95233471 105786534 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,C14orf132,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CLMN,CYP46A1,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,EML1,EVL,EXOC3L4,GLRX5,GPR132,GSC,GSKIP,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00341,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,NUDT14,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SCARNA13,SETD3,SIVA1,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TMEM179,TNFAIP2,TRAF3,TRMT61A,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 95246056 95250286 Copy number Lung cancer - 20668451 NOT_FOUND chr14 95246056 95250286 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 95246056 95250286 Gain or loss Cancer - 20668451 NOT_FOUND chr14 95246056 95250286 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 95246056 95250286 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 95246056 95250286 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 95246056 95250286 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 95246058 95250201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 95246058 95250286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95246058 95250286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95247926 99589374 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AK7,ATG2B,BDKRB1,BDKRB2,C14orf132,C14orf177,C14orf64,CLMN,DICER1,DICER1-AS1,GLRX5,GSKIP,LINC00341,LINC00617,LOC100129345,MIR3173,PAPOLA,SCARNA13,SNHG10,SYNE3,TCL1A,TCL1B,TCL6,VRK1 chr14 95282468 98681324 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AK7,ATG2B,BDKRB1,BDKRB2,C14orf132,C14orf64,CLMN,DICER1,DICER1-AS1,GLRX5,GSKIP,LINC00341,LINC00617,LOC100129345,MIR3173,PAPOLA,SCARNA13,SNHG10,SYNE3,TCL1A,TCL1B,TCL6,VRK1 chr14 95292294 95292557 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 95320653 106356482 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,C14orf132,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CLMN,CRIP1,CRIP2,CYP46A1,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GLRX5,GPR132,GSKIP,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00341,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SCARNA13,SETD3,SIVA1,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 95322240 95367327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 95323562 95323744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 95352639 95352688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95398091 95398191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95399721 95433303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 95400000 100400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AK7,ATG2B,BCL11B,BDKRB1,BDKRB2,C14orf132,C14orf177,C14orf64,CCDC85C,CCNK,CLMN,CYP46A1,DICER1,DICER1-AS1,EML1,GLRX5,GSKIP,HHIPL1,LINC00341,LINC00617,LOC100129345,MIR3173,MIR5698,PAPOLA,SCARNA13,SETD3,SNHG10,SYNE3,TCL1A,TCL1B,TCL6,VRK1 chr14 95400000 100400000 Gain Barrett's adenocarcinoma FISH 18663352 AK7,ATG2B,BCL11B,BDKRB1,BDKRB2,C14orf132,C14orf177,C14orf64,CCDC85C,CCNK,CLMN,CYP46A1,DICER1,DICER1-AS1,EML1,GLRX5,GSKIP,HHIPL1,LINC00341,LINC00617,LOC100129345,MIR3173,MIR5698,PAPOLA,SCARNA13,SETD3,SNHG10,SYNE3,TCL1A,TCL1B,TCL6,VRK1 chr14 95400000 106368585 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,C14orf132,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CLMN,CRIP1,CRIP2,CYP46A1,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GLRX5,GPR132,GSKIP,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00341,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SCARNA13,SETD3,SIVA1,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 95400000 106368585 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,C14orf132,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CLMN,CRIP1,CRIP2,CYP46A1,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GLRX5,GPR132,GSKIP,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00341,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SCARNA13,SETD3,SIVA1,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 95400000 106368585 Gain Normal Human genome CGH 81k ARRAY PLATFORM 22144094 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,C14orf132,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CLMN,CRIP1,CRIP2,CYP46A1,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GLRX5,GPR132,GSKIP,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00341,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SCARNA13,SETD3,SIVA1,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 95416603 106356482 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,C14orf132,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CLMN,CRIP1,CRIP2,CYP46A1,DEGS2,DICER1,DICER1-AS1,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GLRX5,GPR132,GSKIP,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00341,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR3173,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SCARNA13,SETD3,SIVA1,SLC25A29,SLC25A47,SNHG10,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,SYNE3,TCL1A,TCL1B,TCL6,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 95478720 95478820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95484507 95484590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95573313 95588519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DICER1 chr14 95575431 95629886 Gain and loss Pancreatic cancer SNP array 17952125 DICER1,DICER1-AS1,MIR3173 chr14 95582442 95582542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DICER1 chr14 95609121 95609221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DICER1 chr1 49564084 49564184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 95681953 95715972 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CLMN chr1 49571711 49571811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 95740501 95742500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLMN chr14 95740887 95780419 Gain or loss Breast cancer - 20668451 CLMN chr14 95740887 95780419 Gain or loss Cancer - 20668451 CLMN chr14 95740887 95780419 Gain or loss Lung cancer - 20668451 CLMN chr14 95740887 95780419 Gain or loss Ovarian cancer - 20668451 CLMN chr14 95740887 95780419 Gain or loss Pancreas cancer - 20668451 CLMN chr14 95740887 95780419 Gain or loss Prostate cancer - 20668451 CLMN chr14 95740950 95780536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLMN chr14 95740950 95780536 Gain and loss Pancreatic cancer SNP array 17952125 CLMN chr14 95740950 95780536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLMN chr14 95742501 95808500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLMN chr14 95753539 95788861 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLMN chr14 95792300 95800851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95792300 95800851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95792311 95800853 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 95792311 95800853 Gain or loss Cancer - 20668451 NOT_FOUND chr14 95792311 95800853 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 95792311 95800853 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 95792311 95800853 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 95792311 95800853 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 95799760 95800847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 95807934 95808034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 95812089 95812472 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 95817348 95899431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00341,SYNE3 chr14 95817348 95899431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00341,SYNE3 chr14 95820837 95853254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 95859802 95859877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 95859802 95859877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 95861778 95899431 Gain and loss Pancreatic cancer SNP array 17952125 LINC00341,SYNE3 chr14 95899616 95923376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNE3 chr14 95899616 95923376 Gain and loss Pancreatic cancer SNP array 17952125 SYNE3 chr14 95899616 95923376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE3 chr14 95920714 95920902 Gain and loss Pancreatic cancer SNP array 17952125 SYNE3 chr14 95920714 95920905 Gain and loss Pancreatic cancer SNP array 17952125 SYNE3 chr14 95920714 95920905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNE3 chr14 95928200 96024865 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GLRX5,SCARNA13,SNHG10,SYNE3 chr14 95928201 96024866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLRX5,SCARNA13,SNHG10,SYNE3 chr14 95928201 96024866 Gain and loss Pancreatic cancer SNP array 17952125 GLRX5,SCARNA13,SNHG10,SYNE3 chr14 95928201 96024866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLRX5,SCARNA13,SNHG10,SYNE3 chr14 95970333 95970416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96005533 96005633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLRX5 chr14 96038471 96103197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 96038515 96103178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 96038515 96103178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 96044079 96044179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96059753 96059853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 4960609 4960692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96082421 96082521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96095350 96095445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96104558 96725048 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BDKRB1,BDKRB2,C14orf132,LINC00617,TCL1A,TCL1B,TCL6 chr14 96104558 96877218 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AK7,ATG2B,BDKRB1,BDKRB2,C14orf132,GSKIP,LINC00617,TCL1A,TCL1B,TCL6 chr14 96118501 96186000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TCL1A,TCL1B,TCL6 chr14 96159447 96159547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96174284 96174604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 96174377 96174604 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 96174377 96174604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 96281798 96281871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 96282611 96282676 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 96282613 96282679 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 96300000 107349540 Deletion Non-small cell lung cancer Array CGH, MLPA 18320023 ADAM6,ADSSL1,AHNAK2,AK7,AKT1,AMN,ANKRD9,APOPT1,ASPG,ATG2B,BAG5,BCL11B,BDKRB1,BDKRB2,BEGAIN,BRF1,BTBD6,C14orf132,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,CYP46A1,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,GSKIP,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0125,KIAA0284,KIF26A,KLC1,LINC00221,LINC00226,LINC00239,LINC00523,LINC00605,LINC00617,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PAPOLA,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SETD3,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,VRK1,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 96333437 96417703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00617 chr14 96333437 96417703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00617 chr14 96333437 96417704 Copy number Autism exome sequencing 22495311 LINC00617 chr14 96333468 96417693 Gain and loss Pancreatic cancer SNP array 17952125 LINC00617 chr1 49634411 49800398 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGBL4 chr14 96506662 96540690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C14orf132 chr14 96633479 96633579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 49668140 50099851 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 AGBL4 chr14 96682092 96682192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BDKRB2 chr14 96710475 96710475 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BDKRB2 chr14 96711132 96711232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96718255 96718405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96739467 96739547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 96754501 96756000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATG2B chr14 96755170 96755255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATG2B chr14 96759504 96759604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATG2B chr1 49676013 49676077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGBL4 chr14 96771089 96771189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATG2B chr14 96798857 96799857 Loss Osteosarcoma References 21215367 ATG2B chr14 96813809 96814809 Loss Osteosarcoma References 21215367 ATG2B chr14 96836694 96836776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 49685647 49770826 Loss Autism qPCR 20531469 AGBL4 chr1 49687519 49770450 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGBL4 chr1 49688435 49770826 Loss Autism qPCR 20531469 AGBL4 chr14 96926513 96926630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AK7 chr14 96935521 96980943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AK7,PAPOLA chr1 49694207 49694307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 97011706 97056452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAPOLA chr14 97045951 97046051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97065979 97066258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 97065979 97066258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 97065981 97066263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 97080696 97080791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 49708123 49708215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 97116034 97116134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97121513 97121613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 49712523 49712623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 97151735 97151830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97151855 97152074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97168775 97222748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 97168775 97222748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 97169653 97182368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 97249110 97252070 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 97285354 97298921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VRK1 chr14 97290668 97292575 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VRK1 chr14 97296625 97296725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VRK1 chr14 97352227 97352327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97369845 97369944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97372096 97390932 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 97379108 99734482 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BCL11B,C14orf177,C14orf64,LOC100129345 chr14 97412315 97412415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97433645 97433745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97571814 97571898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97601336 97605649 Gain Normal 244K array 17666407 NOT_FOUND chr14 97625664 97727863 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr14 97697068 97745151 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr14 97755176 105042939 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AMN,ANKRD9,APOPT1,ASPG,BAG5,BCL11B,BEGAIN,C14orf177,C14orf2,C14orf64,CCDC85C,CCNK,CDC42BPB,CINP,CKB,CYP46A1,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,EML1,EVL,EXOC3L4,HHIPL1,HSP90AA1,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SETD3,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZFYVE21,ZNF839 chr14 97806651 97806741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97813853 98038354 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr14 97817158 97817258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 97844270 97844599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 97853734 97854840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 97862276 98116066 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 LOC100129345 chr14 97867722 97867840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 97882947 97974794 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr14 97887457 97887754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 97887457 97887754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 97887459 97887754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 97892348 97892424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 97908892 97909042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 49792644 49792725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr14 97941759 97941859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98020102 98020201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98043671 106356482 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BCL11B,BEGAIN,BRF1,BTBD6,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,CYP46A1,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,LOC100129345,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SETD3,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 98059586 98059681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98067506 98067864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 98173569 98173634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98247703 98253850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98247703 98253850 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 98247703 98253850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98393501 98767000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf64 chr14 98405272 98405372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C14orf64 chr14 98443619 106345097 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BCL11B,BEGAIN,BRF1,BTBD6,C14orf177,C14orf180,C14orf2,C14orf64,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,CYP46A1,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SETD3,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 98494190 98494397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98494373 98494518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98494384 98494599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98508969 98509391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98509404 98509561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98511059 98511125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98526000 98526344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 98526524 98526808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 98544476 99772097 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 BCL11B,C14orf177 chr14 98565251 98598813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 98569962 98576851 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr14 98578600 98578663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98579148 98579248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 9867021 9882729 Gain Peripheral t-cell lymphoma Array-based CGH 19118030 NOT_FOUND chr14 98705377 98807568 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 98705377 98807575 Copy number Lung cancer - 20668451 NOT_FOUND chr14 98705377 98807575 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr14 98705377 98807575 Gain or loss Breast cancer - 20668451 NOT_FOUND chr14 98705377 98807575 Gain or loss Cancer - 20668451 NOT_FOUND chr14 98705377 98807575 Gain or loss Lung cancer - 20668451 NOT_FOUND chr14 98705377 98807575 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr14 98705377 98807575 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr14 98705377 98807575 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr14 98705377 98807614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98705377 98807614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98738320 98738398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98741541 106295344 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BCL11B,BEGAIN,BRF1,BTBD6,C14orf177,C14orf180,C14orf2,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,CYP46A1,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SETD3,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 98767001 98770000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 98768290 98768390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 98770001 98852500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 98821341 98831451 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr14 98849905 98884625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 98852501 98900500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 98898381 98898469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98933840 99016979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 98933855 99016991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98933855 99016991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 9896938 9916093 Gain Peripheral t-cell lymphoma Array-based CGH 19118030 NOT_FOUND chr14 98980396 98980502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 98980396 98980502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 98980397 98980502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99017492 99047567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99017492 99047604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99017492 99047604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99041607 99378197 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C14orf177 chr14 99041664 99041764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99047569 99048039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99048125 99058653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99049001 99075000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 99051162 99051262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99051268 99140049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99051268 99140049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99054677 99054777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99056493 99056675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 99056673 99056733 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr14 99075001 99128000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 99076494 99076569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99114397 99114497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99119107 99119206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99119107 99119207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99119107 99119208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99128001 99260500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C14orf177 chr14 99132454 99132568 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 99137698 106175506 Gain Prostate cancer Array CGH 18632612 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BCL11B,BEGAIN,BRF1,BTBD6,C14orf177,C14orf180,C14orf2,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,CYP46A1,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SETD3,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 99181232 99212764 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C14orf177 chr14 99181233 99211716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C14orf177 chr14 99181233 99211716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C14orf177 chr14 99181233 99215466 Gain and loss Pancreatic cancer SNP array 17952125 C14orf177 chr14 99201616 99201705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99207500 99207600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99218094 99218244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99220407 99263390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99220407 99263390 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99220407 99263390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99228638 99248049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr14 99260501 99296000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 99268677 99285486 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 99274323 99285486 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr14 99294897 99298712 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 49929528 49929783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr14 99329486 99477627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99329498 99478146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99329498 99478146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99330427 100480657 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 BCL11B,CCDC85C,CCNK,CYP46A1,EML1,HHIPL1,MIR5698,SETD3 chr1 4993601 5212025 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr14 99378197 103619231 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AMN,ANKRD9,BCL11B,BEGAIN,CCDC85C,CCNK,CDC42BPB,CINP,CYP46A1,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EML1,EVL,EXOC3L4,HHIPL1,HSP90AA1,LINC00239,LINC00523,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,PPP2R5C,RCOR1,RTL1,SETD3,SLC25A29,SLC25A47,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TECPR2,TNFAIP2,TRAF3,WARS,WDR20,WDR25,YY1,ZNF839 chr14 99380475 99380573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99401723 99401814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99429192 99430192 Gain Osteosarcoma References 21215367 NOT_FOUND chr14 99450969 99451969 Loss Osteosarcoma References 21215367 NOT_FOUND chr14 99466000 100572000 Deletion Non-syndromic sensorineural hearing loss Array CGH 20179077 BCL11B,CCDC85C,CCNK,CYP46A1,EML1,EVL,HHIPL1,MIR5698,SETD3 chr14 99472501 99487500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 99481405 99481567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99481405 99481567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99481406 99481567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99488342 99488595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 99493641 99493712 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 99497471 99499265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 99500619 99501468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99500619 99501468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99502296 99502363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99502501 99508500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr14 99507904 99680325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL11B chr14 99507904 99680325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL11B chr14 99588160 99588240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99601504 99680325 Gain and loss Pancreatic cancer SNP array 17952125 BCL11B chr14 99633696 106356482 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADSSL1,AHNAK2,AKT1,AMN,ANKRD9,APOPT1,ASPG,BAG5,BCL11B,BEGAIN,BRF1,BTBD6,C14orf180,C14orf2,C14orf79,C14orf80,CCDC85C,CCNK,CDC42BPB,CDCA4,CINP,CKB,CRIP1,CRIP2,CYP46A1,DEGS2,DIO3,DIO3OS,DLK1,DYNC1H1,EIF5,ELK2AP,EML1,EVL,EXOC3L4,GPR132,HHIPL1,HSP90AA1,INF2,JAG2,KIAA0284,KIF26A,KLC1,LINC00239,LINC00523,LINC00605,LINC00637,LINC00638,MARK3,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR1247,MIR127,MIR134,MIR136,MIR154,MIR203,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR3545,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR4309,MIR431,MIR432,MIR433,MIR4710,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,MOK,MTA1,NUDT14,PACS2,PLD4,PPP1R13B,PPP2R5C,RCOR1,RD3L,RTL1,SETD3,SIVA1,SLC25A29,SLC25A47,SNORA28,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,TDRD9,TECPR2,TEX22,TMEM121,TMEM179,TNFAIP2,TRAF3,TRMT61A,WARS,WDR20,WDR25,XRCC3,YY1,ZBTB42,ZFYVE21,ZNF839 chr14 99642501 99657000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL11B chr14 99645745 99645843 Amplification Acute myeloid leukemia BAC aCGH 20962326 BCL11B chr14 99645745 99645843 Gain and loss Pancreatic cancer SNP array 17952125 BCL11B chr14 99645745 99645843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL11B chr14 99657001 99677000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL11B chr14 99677001 99688000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL11B chr14 99678291 99678391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL11B chr14 99682510 99695712 Gain and loss Pancreatic cancer SNP array 17952125 BCL11B chr14 99682512 99695712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL11B chr14 99682512 99695712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL11B chr14 99688001 99697500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL11B chr14 99697501 99821000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL11B chr14 99734968 99735068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL11B chr14 99772097 101675923 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 BEGAIN,CCDC85C,CCNK,CYP46A1,DEGS2,DLK1,EML1,EVL,HHIPL1,LINC00523,MEG3,MEG8,MEG9,MIR1185-1,MIR1185-2,MIR1193,MIR1197,MIR127,MIR134,MIR136,MIR154,MIR2392,MIR299,MIR300,MIR323A,MIR323B,MIR329-1,MIR329-2,MIR337,MIR345,MIR369,MIR376A1,MIR376A2,MIR376B,MIR376C,MIR377,MIR379,MIR380,MIR381,MIR382,MIR409,MIR410,MIR411,MIR412,MIR431,MIR432,MIR433,MIR485,MIR487A,MIR487B,MIR493,MIR494,MIR495,MIR496,MIR539,MIR541,MIR543,MIR5698,MIR654,MIR655,MIR656,MIR665,MIR668,MIR758,MIR770,MIR889,RTL1,SETD3,SLC25A29,SLC25A47,SNORD113-1,SNORD113-2,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-9,SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-2,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-3,SNORD114-30,SNORD114-31,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9,WARS,WDR25,YY1 chr14 99774855 99814557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99774855 99814557 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99774855 99814557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99775530 99775617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99788553 99788599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99793648 99793724 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr14 99821001 99870000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SETD3 chr14 99827201 99842613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99827201 99842613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99827213 99842613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99843949 99844046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99843949 99844046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99853250 99853350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr14 99855161 99855460 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr14 99855161 99855460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99855167 99855460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr14 99859428 99866468 Gain and loss Pancreatic cancer SNP array 17952125 SETD3 chr14 99859432 99866468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETD3 chr14 99859432 99866468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETD3 chr14 99869878 99912433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETD3 chr14 99869878 99912433 Gain and loss Pancreatic cancer SNP array 17952125 SETD3 chr14 99869878 99912433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETD3 chr14 99870001 100065000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC85C,CCNK,SETD3 chr14 99871840 99871938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SETD3 chr14 99875419 99875489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SETD3 chr14 99912524 99917839 Gain and loss Pancreatic cancer SNP array 17952125 SETD3 chr14 99912546 100066393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC85C,CCNK,SETD3 chr14 99912546 100066393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC85C,CCNK,SETD3 chr14 99914751 99915083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SETD3 chr14 99918090 100066378 Gain and loss Pancreatic cancer SNP array 17952125 CCDC85C,CCNK,SETD3 chr14 99947738 99977852 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 CCDC85C,CCNK chr14 99947738 99977852 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 CCDC85C,CCNK chr14 99992409 99992495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC85C chr14 99998162 100000693 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CCDC85C chr1 5000000 7000000 Loss Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 50017433 50023190 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGBL4 chr1 50019854 50024092 Gain and loss Pancreatic cancer SNP array 17952125 AGBL4 chr1 50080391 50084659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr15 0 0 Deletion Usher type I cohort multiplex ligation-dependent probe amplification(MLPA) has been designed by MRC-Holland 21436283 NOT_FOUND chr15 0 0 Gain Cervical cancer array CGH 21063398 NOT_FOUND chr15 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr1 50100000 53300000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 AGBL4,BTF3L4,C1orf185,CC2D1B,CDKN2C,DMRTA2,ELAVL4,EPS15,FAF1,FAM159A,GPX7,KTI12,MIR761,NRD1,ORC1,OSBPL9,PRPF38A,RAB3B,RNF11,SELRC1,TTC39A,TXNDC12,ZCCHC11,ZFYVE9,ZYG11B chr1 50105836 50105936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr1 50120611 64641284 Amplification Breast cancer Array CGH 16620391 ACOT11,AGBL4,ALG6,ANGPTL3,ATG4C,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C1orf87,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,CYP2J2,DAB1,DHCR24,DIO1,DLEU2L,DMRTA2,DMRTB1,DOCK7,ECHDC2,EFCAB7,ELAVL4,EPS15,FAF1,FAM151A,FAM159A,FGGY,FOXD3,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HOOK1,HSD52,HSPB11,INADL,ITGB3BP,JUN,KANK4,KTI12,L1TD1,LDLRAD1,LINC00466,LOC100131060,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4711,MIR4781,MIR761,MRPL37,MYSM1,NFIA,NRD1,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PGM1,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,ROR1,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TACSTD2,TCEANC2,TM2D1,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP1,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 50172010 50173894 Gain and loss Pancreatic cancer SNP array 17952125 AGBL4 chr1 50198317 50198391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr1 50212281 50261244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGBL4 chr1 50220474 50220554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr1 50232577 50234461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr1 50255335 50255763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr1 50273264 50273364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr1 50275031 50275131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr1 50283984 50379074 Gain and loss Pancreatic cancer SNP array 17952125 AGBL4 chr1 50342169 50442045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr1 50342169 50442045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr1 50351000 50689000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 AGBL4,ELAVL4 chr1 50353196 50353541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL4 chr1 50373838 51719090 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGBL4,C1orf185,CDKN2C,DMRTA2,ELAVL4,FAF1,RNF11 chr1 5037643 5079218 Loss Normal 244K array 17666407 NOT_FOUND chr1 50414049 52029988 LOH Normal High-resolution SNP genotyping 21211785 AGBL4,C1orf185,CDKN2C,DMRTA2,ELAVL4,EPS15,FAF1,RNF11,TTC39A chr1 50445411 53212964 LOH Normal High-resolution SNP genotyping 21211785 AGBL4,BTF3L4,C1orf185,CC2D1B,CDKN2C,DMRTA2,ELAVL4,EPS15,FAF1,FAM159A,GPX7,KTI12,MIR761,NRD1,ORC1,OSBPL9,PRPF38A,RAB3B,RNF11,SELRC1,TTC39A,TXNDC12,ZCCHC11,ZFYVE9,ZYG11B chr1 50487643 50487743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL4 chr1 50498969 50499069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 50503962 50504702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 50556410 50556510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELAVL4 chr1 50564529 50565269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELAVL4 chr1 50592872 50592934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELAVL4 chr1 50596128 50599061 Gain and loss Pancreatic cancer SNP array 17952125 ELAVL4 chr1 50596523 52898071 LOH Normal High-resolution SNP genotyping 21211785 BTF3L4,C1orf185,CC2D1B,CDKN2C,DMRTA2,ELAVL4,EPS15,FAF1,KTI12,MIR761,NRD1,ORC1,OSBPL9,PRPF38A,RAB3B,RNF11,TTC39A,TXNDC12,ZCCHC11,ZFYVE9 chr1 50618000 52179000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 C1orf185,CDKN2C,DMRTA2,ELAVL4,EPS15,FAF1,OSBPL9,RNF11,TTC39A chr1 50618956 51137957 Gain and loss Pancreatic cancer SNP array 17952125 DMRTA2,ELAVL4,FAF1 chr1 50637084 50638032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELAVL4 chr1 50643695 50644283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELAVL4 chr1 5065028 5065936 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 50652354 51478289 Deletion Normal Arbitrated Peel-off 21527027 CDKN2C,DMRTA2,ELAVL4,FAF1 chr1 50652354 51478289 Deletion Normal GeneGISTIC 21527027 CDKN2C,DMRTA2,ELAVL4,FAF1 chr1 50652354 51478289 Deletion Normal Standard peel-off 21527027 CDKN2C,DMRTA2,ELAVL4,FAF1 chr1 50653501 50666500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ELAVL4 chr1 50655809 50661729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELAVL4 chr1 50655809 50661729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELAVL4 chr1 50669458 53683458 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 BTF3L4,C1orf123,C1orf185,CC2D1B,CDKN2C,CPT2,DMRTA2,ECHDC2,EPS15,FAF1,FAM159A,GPX7,KTI12,MIR761,NRD1,ORC1,OSBPL9,PODN,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,TTC39A,TXNDC12,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 50677451 50677550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 50677455 50677550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 50679523 51198524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DMRTA2,FAF1 chr1 50679523 51198524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DMRTA2,FAF1 chr1 50700000 107200000 Loss Prostate cancer Array CGH 16573809 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,AGL,AK4,AK5,ALG14,ALG6,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ARHGAP29,ASB17,ATG4C,BARHL2,BCAR3,BCL10,BRDT,BSND,BTBD8,BTF3L4,C1orf123,C1orf141,C1orf146,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf52,C1orf87,C8A,C8B,CACHD1,CC2D1B,CCBL2,CCDC18,CDC14A,CDC7,CDCP2,CDKN2C,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CPT2,CRYZ,CTBS,CTH,CYB5RL,CYP2J2,CYR61,DAB1,DBT,DDAH1,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DPH5,DPYD,DPYD-AS1,DR1,ECHDC2,EFCAB7,ELTD1,EPHX4,EPS15,EVI5,EXTL2,F3,FAF1,FAM151A,FAM159A,FAM69A,FAM73A,FGGY,FLJ27354,FLJ31662,FNBP1L,FOXD3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLIS1,GLMN,GNG12,GNG12-AS1,GNG5,GPR88,GPX7,GTF2B,HEATR8,HEATR8-TTC4,HFM1,HHLA3,HIAT1,HOOK1,HS2ST1,HSD52,HSP90B3P,HSPB11,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,KIAA1107,KTI12,L1TD1,LDLRAD1,LEPR,LEPROT,LHX8,LINC00466,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131060,LOC100131564,LOC100505768,LOC100507564,LOC100507634,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRP8,LRRC39,LRRC40,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAGOH,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR3117,MIR3671,MIR4422,MIR4423,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR761,MRPL37,MSH4,MTF2,MYSM1,NEGR1,NEGR1-IT1,NEXN,NFIA,NRD1,ODF2L,OLFM3,OMA1,ORC1,OSBPL9,PALMD,PARS2,PCSK9,PDE4B,PGM1,PIGK,PIN1P1,PKN2,PODN,PPAP2B,PRKAA2,PRKACB,PRPF38A,PTBP2,PTGER3,PTGFR,RAB3B,RABGGTB,RAVER2,RBMXL1,RNF11,RNPC3,RNU6-6,ROR1,RPAP2,RPE65,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SCP2,SELRC1,SEP15,SERBP1,SGIP1,SH3GLB1,SLC1A7,SLC25A3P1,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSBP3,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TACSTD2,TCEANC2,TCTEX1D1,TGFBR3,TM2D1,TMED5,TMEM48,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TNNI3K,TRMT13,TTC22,TTC39A,TTC4,TTLL7,TXNDC12,TYW3,UBE2U,UOX,USP1,USP24,USP33,VCAM1,WDR63,WDR78,WLS,YIPF1,ZCCHC11,ZFYVE9,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZYG11A,ZYG11B,ZZZ3 chr1 50700000 59000000 Loss and deletion Multiple myeloma Array CGH 16616336 ACOT11,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,DAB1,DHCR24,DIO1,DMRTA2,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KTI12,LDLRAD1,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4781,MIR761,MRPL37,NRD1,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 50700000 61300000 Amplification head and neck squamous cell carcinoma CGH 17671120 ACOT11,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C1orf87,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,CYP2J2,DAB1,DHCR24,DIO1,DMRTA2,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,FGGY,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HOOK1,HSD52,HSPB11,JUN,KTI12,LDLRAD1,LOC100131060,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4711,MIR4781,MIR761,MRPL37,MYSM1,NRD1,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TACSTD2,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 50700000 61300000 Amplification Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ACOT11,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C1orf87,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,CYP2J2,DAB1,DHCR24,DIO1,DMRTA2,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,FGGY,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HOOK1,HSD52,HSPB11,JUN,KTI12,LDLRAD1,LOC100131060,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4711,MIR4781,MIR761,MRPL37,MYSM1,NRD1,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TACSTD2,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 50700000 61300000 Amplification Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ACOT11,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C1orf87,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,CYP2J2,DAB1,DHCR24,DIO1,DMRTA2,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,FGGY,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HOOK1,HSD52,HSPB11,JUN,KTI12,LDLRAD1,LOC100131060,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4711,MIR4781,MIR761,MRPL37,MYSM1,NRD1,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TACSTD2,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 50700000 61300000 Deletion Hepatocellular carcinoma Array CGH 16750200 ACOT11,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C1orf87,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,CYP2J2,DAB1,DHCR24,DIO1,DMRTA2,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,FGGY,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HOOK1,HSD52,HSPB11,JUN,KTI12,LDLRAD1,LOC100131060,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4711,MIR4781,MIR761,MRPL37,MYSM1,NRD1,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TACSTD2,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 50704960 50705060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 50711992 50712052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 50738018 50738117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 50752624 50752721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 50759161 50759261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 50760097 50760204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 50811092 50844471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 50820664 50820771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 50881243 50926132 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMRTA2,FAF1 chr1 50927989 50928046 Gain and loss Pancreatic cancer SNP array 17952125 FAF1 chr1 50961735 51283220 Deletion Glioblastoma multiforme Array CGH 19115005 FAF1 chr1 50988556 50988613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr1 50992002 50993002 Gain Chordoma References 21215367 FAF1 chr1 50994201 51230200 Deletion Glioma mate-paired sequence 20126413 FAF1 chr15 100005942 100006038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 100005942 100006038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 100011479 100082168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 100011479 100082168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 100011479 100082168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 100038691 100071268 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 100041241 100041331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 100041241 100041331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 100054894 100129431 Gain Stenocardia MACArray Karyo 71K BAC-chips 21860640 MEF2A chr15 100054894 100129431 Gain Vasospasm MACArray Karyo 71K BAC-chips 21860640 MEF2A chr15 100081440 100155675 Gain Stenocardia MACArray Karyo 72K BAC-chips 21860640 MEF2A chr15 100081440 100155675 Gain Vasospasm MACArray Karyo 72K BAC-chips 21860640 MEF2A chr15 100089153 100248597 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MEF2A chr15 100096743 100096843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 100100000 100300000 Loss Lung squamous cell carcinoma sub-megabase resolution tiling-set rearray platform 20842114 LYSMD4,MEF2A chr15 100103550 100122493 Gain and loss Pancreatic cancer SNP array 17952125 MEF2A chr15 100103645 100110581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100103645 100110581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100105359 100122739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEF2A chr15 100105699 100117550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEF2A chr15 100108045 100128725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEF2A chr15 100108582 100117514 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEF2A chr15 100111366 100112685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100112732 100117754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEF2A chr15 100113714 100114072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100115877 100116515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100118755 100119392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100121138 100121775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100121326 100122457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100122652 100286563 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LYSMD4,MEF2A chr15 100123432 100124256 Gain and loss Pancreatic cancer SNP array 17952125 MEF2A chr15 100129679 100139715 Gain and loss Pancreatic cancer SNP array 17952125 MEF2A chr15 100130965 100131239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100131013 100131166 Gain and loss Pancreatic cancer SNP array 17952125 MEF2A chr15 100131013 100131166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100153615 100154615 Gain Renal cell carcinoma References 21215367 MEF2A chr15 100156978 100157078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEF2A chr15 100163446 100164384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100163446 100164384 Gain and loss Pancreatic cancer SNP array 17952125 MEF2A chr15 100163446 100164384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100175913 100176851 Gain and loss Pancreatic cancer SNP array 17952125 MEF2A chr15 100175913 100186588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100175913 100186588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100200633 100208049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2A chr15 100222647 100276767 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LYSMD4,MEF2A chr15 100233064 100233158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEF2A chr15 100238319 100286550 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LYSMD4,MEF2A chr15 100246524 100286563 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LYSMD4,MEF2A chr15 100252532 100286563 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LYSMD4,MEF2A chr15 100279867 100280785 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 NOT_FOUND chr15 100279868 100280785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 100279868 100280785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 100284711 100285367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 100317256 100330545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNM1P46 chr15 100318185 100318322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 100318538 100334331 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 DNM1P46 chr15 100319118 100334282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM1P46 chr15 100479475 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100735818 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100805805 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100810755 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100810892 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100810977 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100810982 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100812597 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100812715 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 100812808 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101010802 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101223572 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 51013201 51238200 Deletion Glioma mate-paired sequence 20126413 FAF1 chr15 101500247 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101522686 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101575580 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101608447 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101655134 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101670160 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101713076 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101764540 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101782628 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101791262 100338915 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 chr15 101802031 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 51018599 51019406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr15 101873484 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101887475 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101918219 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101988007 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 101999328 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 102105141 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 102111974 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 102125903 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 102138009 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 102138191 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 102319383 100338915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr15 104343601 100338915 Deletion Glioma mate-paired sequence 20126413 chr1 51051237 51226466 Deletion Normal GISTIC2.0 21527027 FAF1 chr1 51084728 51085097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr1 51098940 51211740 Deletion Normal Standard GISTIC 21527027 FAF1 chr1 51100000 55800000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ACOT11,BSND,BTF3L4,C1orf123,C1orf177,C1orf185,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,DHCR24,DIO1,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KTI12,LDLRAD1,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4781,MIR761,MRPL37,NRD1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr15 1 100338915 Deletion,amplification Normal Affymetrix 250K SNP array 21412953 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 1 100338915 Deletion Schizophrenia - 19415332 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 1 100338915 Gain Ewing's sarcoma CGH(Reference) 21437220 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 1 100338915 Gain Normal - 20616218 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 1 100338915 Indels Normal Affymetrix 6.0 array 21223598 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 1 100338915 Trisomy Normal MAD tool 21586113 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr1 51138438 51152326 Gain and loss Pancreatic cancer SNP array 17952125 FAF1 chr15 1 17000000 Loss Breast cancer aCGH 21264507 NOT_FOUND chr15 1 17000000 Loss Esophageal squamous carcinoma CGH 21637470 NOT_FOUND chr15 1 18276000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 1 19000000 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 NOT_FOUND chr1 51190836 51354831 Amplification or deletion Cancer Array CGH 17440070 FAF1 chr1 51199005 51212893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr1 51199005 51212893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr15 1 24740084 Deletion Cancer Affymetrix 250K Sty array 20164920 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,PWRN2,REREP3,TUBGCP5,WHAMMP3 chr1 51279608 51280608 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 FAF1 chr1 51281079 54467547 Substitutions and indels small cell lung cancer array-CGH 20016488 BTF3L4,C1orf123,C1orf185,CC2D1B,CDKN2C,CPT2,DIO1,DMRTB1,ECHDC2,EPS15,FAF1,FAM159A,GLIS1,GPX7,HSPB11,KTI12,LOC100507564,LRP8,LRRC42,MAGOH,MIR761,NRD1,ORC1,OSBPL9,PODN,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,TMEM48,TTC39A,TXNDC12,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 51284915 51285021 Gain and loss Pancreatic cancer SNP array 17952125 FAF1 chr1 51284915 51285022 Gain and loss Pancreatic cancer SNP array 17952125 FAF1 chr1 51300000 111600000 Loss Breast cancer Array CGH 16608533 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,AGL,AHCYL1,AK4,AK5,AKNAD1,ALG14,ALG6,ALX3,AMIGO1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ARHGAP29,ASB17,ATG4C,ATXN7L2,BARHL2,BCAR3,BCL10,BRDT,BSND,BTBD8,BTF3L4,C1orf123,C1orf141,C1orf146,C1orf168,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf52,C1orf87,C8A,C8B,CACHD1,CC2D1B,CCBL2,CCDC18,CD53,CDC14A,CDC7,CDCP2,CDKN2C,CELSR2,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CPT2,CRYZ,CSF1,CTBS,CTH,CYB561D1,CYB5RL,CYMP,CYP2J2,CYR61,DAB1,DBT,DDAH1,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DPH5,DPYD,DPYD-AS1,DR1,ECHDC2,EFCAB7,ELTD1,EPHX4,EPS15,EPS8L3,EVI5,EXTL2,F3,FAF1,FAM102B,FAM151A,FAM159A,FAM40A,FAM69A,FAM73A,FGGY,FLJ27354,FLJ31662,FNBP1L,FNDC7,FOXD3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLIS1,GLMN,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GPR61,GPR88,GPSM2,GPX7,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HEATR8,HEATR8-TTC4,HENMT1,HFM1,HHLA3,HIAT1,HOOK1,HS2ST1,HSD52,HSP90B3P,HSPB11,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KIAA1107,KIAA1324,KTI12,L1TD1,LAMTOR5,LDLRAD1,LEPR,LEPROT,LHX8,LINC00466,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131060,LOC100131564,LOC100505768,LOC100507564,LOC100507634,LOC339524,LOC440600,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRP8,LRRC39,LRRC40,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAGOH,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR3117,MIR3671,MIR4422,MIR4423,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR761,MRPL37,MSH4,MTF2,MYBPHL,MYSM1,NBPF4,NBPF6,NEGR1,NEGR1-IT1,NEXN,NFIA,NRD1,NTNG1,ODF2L,OLFM3,OMA1,ORC1,OSBPL9,PALMD,PARS2,PCSK9,PDE4B,PGM1,PIGK,PIN1P1,PKN2,PODN,PPAP2B,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSRC1,PTBP2,PTGER3,PTGFR,RAB3B,RABGGTB,RAVER2,RBM15,RBMXL1,RNF11,RNPC3,RNU6-6,ROR1,RPAP2,RPE65,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SCP2,SELRC1,SEP15,SERBP1,SGIP1,SH3GLB1,SLC16A4,SLC1A7,SLC25A24,SLC25A3P1,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SRG7,SRSF11,SSBP3,SSX2IP,ST6GALNAC3,ST6GALNAC5,STXBP3,SYDE2,SYPL2,TACSTD2,TAF13,TCEANC2,TCTEX1D1,TGFBR3,TM2D1,TMED5,TMEM167B,TMEM48,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TNNI3K,TRMT13,TTC22,TTC39A,TTC4,TTLL7,TXNDC12,TYW3,UBE2U,UBL4B,UOX,USP1,USP24,USP33,VAV3,VAV3-AS1,VCAM1,WDR47,WDR63,WDR78,WLS,YIPF1,ZCCHC11,ZFYVE9,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZYG11A,ZYG11B,ZZZ3 chr1 51300000 56200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT11,BSND,BTF3L4,C1orf123,C1orf177,C1orf185,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,DHCR24,DIO1,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KTI12,LDLRAD1,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4781,MIR761,MRPL37,NRD1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 51300000 56200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT11,BSND,BTF3L4,C1orf123,C1orf177,C1orf185,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,DHCR24,DIO1,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KTI12,LDLRAD1,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4781,MIR761,MRPL37,NRD1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 51300000 56200000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ACOT11,BSND,BTF3L4,C1orf123,C1orf177,C1orf185,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,DHCR24,DIO1,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KTI12,LDLRAD1,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4781,MIR761,MRPL37,NRD1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 51300000 56200000 Loss Glioblastoma multiforme aCGH 21080181 ACOT11,BSND,BTF3L4,C1orf123,C1orf177,C1orf185,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,DHCR24,DIO1,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HSPB11,KTI12,LDLRAD1,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4781,MIR761,MRPL37,NRD1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 51300000 60900000 Loss Non-small cell lung cancer - 21385341 ACOT11,BSND,BTF3L4,C1orf123,C1orf168,C1orf177,C1orf185,C1orf87,C8A,C8B,CC2D1B,CDCP2,CDKN2C,CPT2,CYB5RL,CYP2J2,DAB1,DHCR24,DIO1,DMRTB1,ECHDC2,EPS15,FAF1,FAM151A,FAM159A,FGGY,GLIS1,GPX7,HEATR8,HEATR8-TTC4,HOOK1,HSD52,HSPB11,JUN,KTI12,LDLRAD1,LOC100131060,LOC100507564,LOC100507634,LRP8,LRRC42,MAGOH,MIR4422,MIR4711,MIR4781,MIR761,MRPL37,MYSM1,NRD1,OMA1,ORC1,OSBPL9,PARS2,PCSK9,PODN,PPAP2B,PRKAA2,PRPF38A,RAB3B,RNF11,SCP2,SELRC1,SLC1A7,SLC25A3P1,SSBP3,TACSTD2,TCEANC2,TMEM48,TMEM59,TMEM61,TTC22,TTC39A,TTC4,TXNDC12,USP24,YIPF1,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr15 13039694 15444843 Copy number Normal Quantitative Real-Time PCR 17666543 NOT_FOUND chr1 51340494 51386340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr1 51340494 51386340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr1 51345482 51345591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr1 51369823 51369923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAF1 chr1 51396048 51396731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAF1 chr1 51408948 51409049 Gain and loss Pancreatic cancer SNP array 17952125 FAF1 chr15 14100000 18400000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 NOT_FOUND chr1 51413992 51451231 Gain and loss Pancreatic cancer SNP array 17952125 CDKN2C,FAF1 chr1 51428291 51429139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 51429143 51429218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51433986 51434425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDKN2C chr15 144643813 146297795 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 NOT_FOUND chr1 5145595 5145688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 51464952 51522715 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 51469515 51469616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51474533 51511705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51474533 51511705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51488863 51489732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51488863 51489732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51513966 51513998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 51525370 51583282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf185 chr1 51525370 51583282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf185 chr1 51532401 51697016 Gain and loss Pancreatic cancer SNP array 17952125 C1orf185 chr1 51532501 51585000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf185 chr1 51536281 51536381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 51539022 52933310 LOH Normal High-resolution SNP genotyping 21211785 BTF3L4,C1orf185,CC2D1B,EPS15,KTI12,MIR761,NRD1,ORC1,OSBPL9,PRPF38A,RAB3B,RNF11,TTC39A,TXNDC12,ZCCHC11,ZFYVE9 chr1 51545765 53346467 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-255K arrays 21546498 BTF3L4,C1orf185,CC2D1B,EPS15,FAM159A,GPX7,KTI12,MIR761,NRD1,ORC1,OSBPL9,PRPF38A,RAB3B,RNF11,SELRC1,TTC39A,TXNDC12,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 51547019 51547094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51560001 51560107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 51581741 51581820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf185 chr1 51586 219470 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC729737,OR4F5 chr1 51586 225579 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC729737,OR4F5 chr1 51586 346393 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F5 chr1 51586 554484 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 51586 708514 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 51586 730720 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 51586 742429 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 51586 747320 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 51586 758644 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 51586 76192 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4F5 chr1 51586 76192 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4F5 chr1 51586 76192 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4F5 chr1 51586 88453 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR4F5 chr1 51592522 51757583 Gain or loss Breast cancer - 20668451 C1orf185,RNF11,TTC39A chr1 51592522 51757583 Gain or loss Cancer - 20668451 C1orf185,RNF11,TTC39A chr1 51592522 51757583 Gain or loss Lung cancer - 20668451 C1orf185,RNF11,TTC39A chr1 51592522 51757583 Gain or loss Ovarian cancer - 20668451 C1orf185,RNF11,TTC39A chr1 51592522 51757583 Gain or loss Pancreas cancer - 20668451 C1orf185,RNF11,TTC39A chr1 51592522 51757583 Gain or loss Prostate cancer - 20668451 C1orf185,RNF11,TTC39A chr1 51592523 51757583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf185,RNF11,TTC39A chr1 51592523 51757583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf185,RNF11,TTC39A chr1 51598 708526 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 51598 88465 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 OR4F5 chr1 51598 88465 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OR4F5 chr1 51610539 51611400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf185 chr1 51620568 51620674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51687740 51690043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 17000000 100338915 Copy number cataract PCR-based DNA sequencing methods 16735990 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Deletion Colorectal cancer SNP array 20709793 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Deletion Medulloblastoma SNP arrays 21979893 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Deletion spastic paraplegia with thinning of corpus callosum PCR, sequenced 19105190 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Gain Astrocytoma CGH 17387387 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Gain Esophageal squamous carcinoma CGH 21637470 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Gain Medulloblastoma SNP arrays 21979893 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Gain or loss Endometrial cancer CGH 22040021 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 100338915 Loss Breast cancer aCGH 21264507 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 17000000 18400000 Gain Schizophrenia Affymetrix 6.0 array 21399695 NOT_FOUND chr15 17000000 23300000 Copy number Prader-willi syndrome Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 17000000 23300000 Gain Cancer array-based techniques 21183584 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 17000000 23300000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 17000000 23300000 Loss Cryptorchidism oligo V6.2 21048976 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 17000000 27600000 Duplication abnormal development HR-CGH, Array-CGH 18461090 ATP10A,CHEK2P2,CXADRP2,CYFIP1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC100128714,LOC283683,LOC348120,LOC503519,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 17000000 31400000 Copy number Normal - 21701786 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Copy number Prader-willi syndrome Affymetrix mapping 500K arra 21233802 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Copy number Prader-willi syndrome Fluorescence In Situ Hybridization(FISH) 21504564 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Copy number The inv dup or idic syndrome array CGH 19019226 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion Angelman syndrome FISH(References) 16617304 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion Angelman syndrome fluorescence in situ hybridisation studies (FISH) or microsatellite marker analysis 16183798 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion Angelman syndrome from references 18923514 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion Angelman syndrome ref 20970697 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion-maternal Epilepsy ref 20970697 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion-paternal Autism ref 20970697 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion-paternal Epilepsy ref 20970697 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion Prader-willi syndrome FISH(References) 16617304 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion Prader-willi syndrome from references 18923514 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion Prader-willi syndrome high-density microarrays 22241247 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Deletion Prader-willi syndrome ref 20970697 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Autism - 19935738 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Autism from references 18923514 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Autism high-density microarrays 22241247 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Autism Multiplex ligation-dependent probe amplification 18925931 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Autism ref 20970697 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Autism References 19966786 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Autism RT-PCR 18835857 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Epilepsy ref 20970697 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Prader-willi syndrome Quantitative RT-PCR 22152151 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Duplication Prader-willi syndrome RT-PCR 18835857 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Gain 15q-syndrome quantitative RT-PCR 21725066 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Inherited homozygous deletion or duplication Autism References 21956041 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Microdeletion Angelman syndrome multiplex ligation-dependent probe amplification 21072004 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Microdeletion Prader-willi syndrome - 16760730 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Microdeletion Prader-willi syndrome aCGH 22470819 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Microdeletion Prader-willi syndrome FISH 17867985 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Microdeletion Prader-willi syndrome References 21503198 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 31400000 Microdeletion prenatal diagnosis Multiplex ligation probe amplification 20453657 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 17000000 37900000 Deletion Angelman syndrome microarray based comparative genomic hybridisation (array CGH) assay 16183798 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf55,CHEK2P2,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,CXADRP2,CYFIP1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GJD2,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC145845,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,MAGEL2,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,PGBD4,POTEB,PWRN1,PWRN2,REREP3,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3,ZNF770 chr15 17000000 42700000 Deletion Angelman syndrome microarray based comparative genomic hybridisation (array CGH) assay 16183798 ACTC1,ANKRD63,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,BAHD1,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CSNK1A1P1,CXADRP2,CYFIP1,DISP2,DKFZP434L187,DLL4,DNAJC17,EHD4,EIF2AK4,EMC4,EMC7,EXD1,FAM189A1,FAM82A2,FAM98B,FAN1,FMN1,FSIP1,GABRA5,GABRB3,GABRG3,GANC,GCHFR,GJD2,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,INO80,IPW,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LOC100128714,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145845,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,LTK,MAGEL2,MAPKBP1,MEIS2,MGA,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4310,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MIR626,MIR627,MKRN3,MRPL42P5,MTMR10,NBEAP1,NDN,NDNL2,NDUFAF1,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,NUSAP1,OCA2,OIP5,OIP5-AS1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAR-SN,PAR1,PAR4,PAR5,PGBD4,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,POTEB,PPP1R14D,PWRN1,PWRN2,RAD51,RASGRP1,REREP3,RHOV,RPAP1,RPUSD2,RTF1,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SPINT1,SPRED1,SPTBN5,SRP14,THBS1,TJP1,TMCO5A,TMCO5B,TMEM87A,TRPM1,TUBGCP5,TYRO3,UBE3A,ULK4P1,ULK4P2,ULK4P3,VPS18,VPS39,WHAMMP1,WHAMMP2,WHAMMP3,ZFYVE19,ZNF770 chr15 17000000 42700000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ACTC1,ANKRD63,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,BAHD1,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CSNK1A1P1,CXADRP2,CYFIP1,DISP2,DKFZP434L187,DLL4,DNAJC17,EHD4,EIF2AK4,EMC4,EMC7,EXD1,FAM189A1,FAM82A2,FAM98B,FAN1,FMN1,FSIP1,GABRA5,GABRB3,GABRG3,GANC,GCHFR,GJD2,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,INO80,IPW,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LOC100128714,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145845,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,LTK,MAGEL2,MAPKBP1,MEIS2,MGA,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4310,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MIR626,MIR627,MKRN3,MRPL42P5,MTMR10,NBEAP1,NDN,NDNL2,NDUFAF1,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,NUSAP1,OCA2,OIP5,OIP5-AS1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAR-SN,PAR1,PAR4,PAR5,PGBD4,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,POTEB,PPP1R14D,PWRN1,PWRN2,RAD51,RASGRP1,REREP3,RHOV,RPAP1,RPUSD2,RTF1,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SPINT1,SPRED1,SPTBN5,SRP14,THBS1,TJP1,TMCO5A,TMCO5B,TMEM87A,TRPM1,TUBGCP5,TYRO3,UBE3A,ULK4P1,ULK4P2,ULK4P3,VPS18,VPS39,WHAMMP1,WHAMMP2,WHAMMP3,ZFYVE19,ZNF770 chr15 17000000 76100000 Loss Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 AAGAB,ACTC1,ADAL,ADAM10,ADPGK,ADPGK-AS1,ALDH1A2,ANKDD1A,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANXA2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARPP19,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2L10,BLOC1S6,BMF,BNIP2,BUB1B,C15orf23,C15orf29,C15orf39,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPLX3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DNM1P35,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FBN1,FBXL22,FEM1B,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAUS2,HCN4,HDC,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMGN2P46,HSP90AB4P,IGDCC3,IGDCC4,IMP3,INO80,IPW,IQCH,IQCH-AS1,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIF23,KLF13,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00277,LINC00593,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145783,LOC145837,LOC145845,LOC283663,LOC283683,LOC283710,LOC283731,LOC348120,LOC440288,LOC503519,LOC645212,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LOC729739,LOXL1,LOXL1-AS1,LPCAT4,LRRC49,LRRC57,LTK,LYSMD2,MAGEL2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MEGF11,MEIS2,MFAP1,MGA,MGC15885,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1282,MIR147B,MIR190A,MIR211,MIR2116,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4712,MIR4713,MIR4715,MIR4716,MIR548H4,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MKRN3,MNS1,MPI,MRPL42P5,MTFMT,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NIPA1,NIPA2,NOP10,NOX5,NPAP1,NPTN,NR2E3,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDIA3,PGBD4,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PML,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRTG,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRP1,RASL12,RBPMS2,REREP3,RFX7,RHOV,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCARNA14,SCG3,SCG5,SECISBP2L,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLC51B,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STOML1,STRA6,STRC,TBC1D21,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TIPIN,TJP1,TLE3,TLN2,TMCO5A,TMCO5B,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TTBK2,TUBGCP4,TUBGCP5,TYRO3,UACA,UBAP1L,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP3,USP50,USP8,VPS13C,VPS18,VPS39,WDR72,WDR76,WHAMMP1,WHAMMP2,WHAMMP3,ZFP106,ZFYVE19,ZNF280D,ZNF609,ZNF770,ZSCAN29,ZWILCH chr1 51703551 51750633 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RNF11 chr1 51716322 51716422 Gain and loss Pancreatic cancer SNP array 17952125 RNF11 chr1 51776889 51776989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC39A chr1 51794559 51966157 Gain and loss Pancreatic cancer SNP array 17952125 EPS15,TTC39A chr15 18000000 35000000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,AVEN,C15orf29,C15orf55,CHEK2P2,CHRFAM7A,CHRM5,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,MAGEL2,MIR1233-1,MIR1233-2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,PGBD4,POTEB,PWRN1,PWRN2,REREP3,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr1 51800126 51833157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15,TTC39A chr1 51807049 53375705 LOH Normal High-resolution SNP genotyping 21211785 BTF3L4,CC2D1B,ECHDC2,EPS15,FAM159A,GPX7,KTI12,MIR761,NRD1,ORC1,OSBPL9,PRPF38A,RAB3B,SELRC1,TTC39A,TXNDC12,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 51814308 53375705 LOH Normal High-resolution SNP genotyping 21211785 BTF3L4,CC2D1B,ECHDC2,EPS15,FAM159A,GPX7,KTI12,MIR761,NRD1,ORC1,OSBPL9,PRPF38A,RAB3B,SELRC1,TXNDC12,ZCCHC11,ZFYVE9,ZYG11A,ZYG11B chr1 51815439 52026729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPS15 chr1 51815439 52026729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15 chr15 18261000 20307000 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 NOT_FOUND chr15 18263733 18473371 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18263733 18617195 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18263733 18804305 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18263733 18935829 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18263733 19484504 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18263733 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18263733 21066294 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1,POTEB chr15 18276001 18303500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18276329 18403665 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 18412730 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 18412730 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 18415640 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 18432609 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 18454740 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 18463963 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 18841566 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 19548923 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276329 20073181 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18276329 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18276341 20089383 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18276341 20304073 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18276342 20303147 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 18276824 19658772 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 19798496 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 19799531 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 19800190 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 19800612 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 19800898 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 19889780 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 19971461 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20048280 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20055072 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20075201 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20076298 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20076298 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20077172 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20077172 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20077518 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20079839 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20086131 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20087192 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20088354 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20089712 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20092999 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20092999 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20149558 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20149558 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20213589 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20213589 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20230783 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20230783 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20230783 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20234443 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20238035 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20271063 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20303383 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20305823 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20308675 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20312781 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20332439 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20334499 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20335653 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20337157 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20354055 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18276824 20387996 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 18285782 20868229 Microdeletion Epilepsy HumanHap 550K, and HumanHap 317K 21635232 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 18285951 18617195 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18285951 18804305 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18285951 18935829 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18285951 19014108 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18285951 19484504 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18285951 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18343819 18353093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18348881 18348983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18362555 19869764 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 NOT_FOUND chr15 18390155 18412742 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18400000 100338915 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 18400000 23300000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Copy number Angelman syndrome BAC array CGH platform 21549014 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Copy number Schizophrenia from references 18923514 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Copy number Schizophrenia References 20553308 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Deletion Normal Refference 21823210 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Deletion Prader-willi syndrome SignatureChip OS2.0 manufactured for Signature Genomic Laboratories 20588305 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Deletion Schizophrenia - 20587603 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Deletion Schizophrenia References 21956041 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Gain Autism Array CGH 21269290 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Gain Intellectual disability Array CGH 21269290 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Gain Schizophrenia Affymetrix 6.0 array 21399695 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Gain Schizophrenia Array CGH 21269290 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Loss Carcinoma ex pleomorphic adenoma array-CGH 18828159 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 23300000 Microduplication Schizophrenia References 19855392 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8IP,HERC2P2,HERC2P3,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 chr15 18400000 25700000 Deletion Developmental delay Array-based comparative genomic hybridization 18414209 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 18400000 25700000 Deletion Mental retardation Array-based comparative genomic hybridization 18414209 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 18400000 25700000 Duplication Congenital abnormalities BAC array CGH platform 21549014 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 18400000 25700000 Duplication Developmental delay BAC array CGH platform 21549014 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 18400000 25700000 Duplication Mental retardation BAC array CGH platform 21549014 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 18400000 25700000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 18400000 31400000 Deletion Prader-willi syndrome - 18781185 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 18411624 18472812 Duplication Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V13 BeadChip 22016809 NOT_FOUND chr15 18412742 18415652 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18415652 18454752 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18419709 18576834 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 18576834 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 18617195 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 18617195 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 18719412 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 18804305 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 18804305 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 19014108 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 19257408 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 19257408 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 19484504 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 19484504 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 19970466 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 20382314 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 20382314 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 20428072 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18419709 20428072 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18427103 19407629 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 18427103 19407629 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 18427103 20089383 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 18427103 20089383 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 18429923 18430368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18429923 18430368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18431802 18654240 Gain Normal 244K array 17666407 NOT_FOUND chr15 18432609 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18443852 19044540 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr15 18454752 18466953 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18461853 18617195 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18461853 18804305 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18461853 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18461853 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18461853 20428072 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18463963 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18466942 20232427 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr15 18466953 18476969 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18468251 18637750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18476957 18824589 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18476957 18834160 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18476957 18838423 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18476957 18846485 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18476957 19566863 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18476957 19813163 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18476957 19835514 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18476957 20089383 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18476957 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18476969 20089383 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18491920 19803369 Amplification or deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 NOT_FOUND chr15 18506386 18522250 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18515594 19109786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18522238 18838423 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 18838423 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 18862054 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 19813163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18522238 19835514 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 19864583 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 20084761 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 20224751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18522238 20224751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18522250 18544080 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18523239 20092794 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr15 18525980 19566863 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18525980 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18525992 20306536 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18544068 19787121 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18544068 19787121 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18544068 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18544068 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18544080 18652835 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18551315 18906577 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18551315 19787121 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18551315 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18551315 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18557551 19455700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18561000 18561296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18590230 18804305 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18590230 18804305 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18590230 18935829 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18590230 18935829 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18590230 19014108 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18590230 19257408 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18590230 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18590230 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18609410 18610046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18652194 18935829 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18652194 19257408 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18652194 20428072 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18652835 18671392 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18652835 20089383 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18654240 18672590 Loss Normal 244K array 17666407 NOT_FOUND chr15 18655531 18838423 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18655531 18841566 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18655531 18887494 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18655531 18906577 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18655531 19139845 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18655531 19475419 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18655531 19813163 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18655531 20054561 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18655531 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18655531 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18655531 20089383 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18655531 20224751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18657388 19963219 Gain Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 NOT_FOUND chr15 18657417 20249915 Loss or gain Normal 244K array 17666407 NOT_FOUND chr15 18671380 18838423 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18671392 18676145 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18671650 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18672040 20089383 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18672480 19190690 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18676145 18700552 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18682380 18838423 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18682380 18841566 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18682380 19412503 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18682380 20084761 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18682380 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18682380 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18683000 27286000 Deletion Angelman syndrome FISH 21824424 ATP10A,CHEK2P2,CXADRP2,CYFIP1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC100128714,LOC283683,LOC348120,LOC503519,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 18683000 27286000 Deletion Prader-willi syndrome FISH 21824424 ATP10A,CHEK2P2,CXADRP2,CYFIP1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC100128714,LOC283683,LOC348120,LOC503519,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 18683110 19435559 Gain Urothelial carcinoma array CGH validated by FISH 21177765 NOT_FOUND chr15 18683110 20387386 Loss Urothelial carcinoma array CGH validated by FISH 21177765 NOT_FOUND chr15 18692665 20088456 Copy number Incontinentia Pigmenti Agilent SurePrint G14 one Million microarrays 22033527 NOT_FOUND chr15 18693815 18742142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18700540 18838423 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18700540 18841566 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18700540 19003796 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18700540 19066359 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18700540 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18700540 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18700540 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18700540 20968714 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1 chr15 18700552 18728578 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18706140 18838423 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18706140 18846959 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18706140 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18706152 20224763 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18711364 19407629 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 18711364 19407629 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 18711364 20005562 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 18711364 20079140 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr15 18711364 20329239 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr15 18714261 18841457 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18714261 18841566 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18728578 18758697 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18732853 18838423 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18732853 18838423 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18732853 18876728 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18732853 18906577 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18732853 20089383 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18741744 19805989 Loss Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr15 18741744 20060090 Gain Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr15 18742383 18772949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18746811 18757361 Gain Normal TaqMan assays 20972442 NOT_FOUND chr15 18747225 19014108 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18747225 19484504 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18747225 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18747225 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18747225 20382314 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18747225 20382314 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18747225 20428072 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18748338 19204074 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18753439 18869621 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18753439 18876728 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18753439 18887494 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18758685 18862420 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18758697 18782353 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18765501 18767500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18767501 18772500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18771156 20232428 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18772501 18790750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18782353 18792631 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18790751 18792500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18792501 18824000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18792619 19223620 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18792631 18801994 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18795529 18815892 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18798120 18818435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18798816 18825649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18800000 29000000 Gain Autism Array CGH 18522746 ATP10A,CHEK2P2,CXADRP2,CYFIP1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC283683,LOC348120,LOC503519,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP2,WHAMMP3 chr15 18801692 19870262 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 18801692 19870262 Gain Non-syndromic sensorineural hearing loss 610K,Agilent24M 19587683 NOT_FOUND chr15 18801994 18824589 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18803286 18818692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18803566 18809792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18807195 18850675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18809644 19830390 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18809892 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18810004 19537035 Deletion Rett syndrome References 21593744 NOT_FOUND chr15 18816444 18846959 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18816444 18977388 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18816444 19787121 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18822307 19852603 Microdeletion Epilepsy HumanHap 550K, and HumanHap 317K 21635232 NOT_FOUND chr15 18824589 18838066 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18824589 19163266 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18824589 19169035 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18824589 19172949 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18824589 19178339 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr15 18824589 20089383 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18824589 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18825632 18855898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18829953 18846106 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18829953 18846485 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18829953 18977388 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18832618 18846106 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18835203 18867788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18837933 18859392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 18838066 18838175 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18838175 18838380 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18838380 18841465 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18838424 18841563 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr15 18838435 19438545 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18841465 18846002 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18841501 18849250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18841564 19066359 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18841564 19813163 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18841564 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 18977388 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 18990467 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 19066359 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 19120441 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 19130493 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 19134263 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18845990 19422452 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 19422452 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18845990 19466183 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 19566863 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 19884553 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18845990 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18846002 18850041 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18846092 18990467 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18846092 20089383 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18846375 19548935 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 18846485 19272115 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18846747 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18846914 19985717 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18847457 18847615 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 18848558 18971443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18848560 18893585 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr15 18848560 20290588 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr15 18850029 18990467 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 19055342 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 19462007 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 19475419 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 19548923 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 19787121 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 19830378 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 19835514 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 19889588 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850029 20224751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18850041 18850404 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18850120 18861173 Gain Normal TaqMan assays 20972442 NOT_FOUND chr15 18850404 18861568 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18854615 19014108 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18854615 19484504 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18854615 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 18854615 21066294 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1,POTEB chr15 18861174 18893586 Gain Normal TaqMan assays 20972442 NOT_FOUND chr15 18861568 18887506 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18861808 19830378 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18868075 18990467 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18869621 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18871371 19422452 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18871371 19566863 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18875309 19884553 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 18881005 18958308 Gain Stenocardia MACArray Karyo 68K BAC-chips 21860640 NOT_FOUND chr15 18881005 18958308 Gain Vasospasm MACArray Karyo 68K BAC-chips 21860640 NOT_FOUND chr15 18886777 18888293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 18887506 18906699 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18892251 19066000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 18906577 19566863 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18906699 19055354 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 18977388 19566863 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18977388 19566863 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18977388 20061726 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 18998028 18998402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 18999511 19007128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19000000 102531392 Amplification Gastric cancer Array CGH 17167181 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19000000 102531392 Copy number Neuroblastoma Affymetrix 100K SNP arrays 19435921 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19000000 102531392 Deletion Colorectal cancer GISTIC software 19359472 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19000000 102531392 Gain Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19000000 102531392 Gain Multiple myeloma CGH, Real-Time PCR 17077331 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19000000 102531392 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19000000 102531392 Loss Gastrointestinal stromal cancer CGH 20470368 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19000000 20700000 Deletion Hepatocellular carcinoma Array CGH 16750200 CHEK2P2,HERC2P3 chr15 19000000 20700000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 CHEK2P2,HERC2P3 chr15 19000000 20700000 Loss Primary mediastinal b-cell lymphoma Array CGH 17728785 CHEK2P2,HERC2P3 chr15 19000000 25700000 Deletion or duplication Autism ref 20964600 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 19000000 33600000 Amplification Autism Affymetrix 10K SNP arrays 17322880 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr15 19000000 33600000 Copy number Prader-willi syndrome References 19329560 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr15 19000000 33600000 Duplication Autism Affymetrix 500K SNP array set 17999366 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr15 19000000 33600000 Duplication Autism Array CGH, and FISH 17901113 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr15 19000000 33600000 Duplication Neurodevelopmental disorder References 17015230 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr15 19000000 33600000 Gain Autism References 18414403 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr15 19000000 33600000 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr15 19000000 59100000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ACTC1,ADAL,ADAM10,ALDH1A2,ANKRD63,ANP32AP1,AP4E1,APBA2,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARPP19,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CHAC1,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CKMT1A,CKMT1B,COPS2,CSNK1A1P1,CTDSPL2,CTXN2,CXADRP2,CYFIP1,CYP19A1,DCAF13P3,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM227B,FAM63B,FAM82A2,FAM98B,FAN1,FBN1,FGF7,FLJ10038,FLJ27352,FMN1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCOM1,GJD2,GLDN,GNB5,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GREM1,HAUS2,HDC,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HMGN2P46,HSP90AB4P,INO80,IPW,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LCMT2,LEO1,LIPC,LOC100128714,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145783,LOC145845,LOC283663,LOC283683,LOC283710,LOC348120,LOC503519,LOC645212,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,LRRC57,LTK,LYSMD2,MAGEL2,MAP1A,MAPK6,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1266,MIR1282,MIR147B,MIR211,MIR3942,MIR4310,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4712,MIR4713,MIR4715,MIR4716,MIR626,MIR627,MIR628,MKRN3,MNS1,MRPL42P5,MTMR10,MYEF2,MYO5A,MYO5C,MYZAP,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,NUSAP1,OCA2,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAR-SN,PAR1,PAR4,PAR5,PATL2,PDIA3,PGBD4,PHGR1,PIGB,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,POLR2M,POTEB,PPIP5K1,PPP1R14D,PRTG,PWRN1,PWRN2,PYGO1,RAB27A,RAD51,RASGRP1,REREP3,RFX7,RHOV,RNU6-28,RPAP1,RPUSD2,RSL24D1,RTF1,RYR3,SCG3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SORD,SPATA5L1,SPG11,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,THBS1,TJP1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM1,TRPM7,TTBK2,TUBGCP4,TUBGCP5,TYRO3,UBE3A,UBR1,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP50,USP8,VPS18,VPS39,WDR72,WDR76,WHAMMP1,WHAMMP2,WHAMMP3,ZFP106,ZFYVE19,ZNF280D,ZNF770,ZSCAN29 chr15 19027714 19041033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19027714 19041033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19036232 19036510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19036299 19036457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19037384 19037466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19044540 19508708 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr15 19044664 19093683 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 19050502 19484504 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19050502 19484504 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19050502 19970466 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19050502 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19050502 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19050502 20382314 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19055342 19813163 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19055342 19813163 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19055354 19066371 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19057902 19060769 Gain Normal BAC array 16365383 NOT_FOUND chr15 19066359 19835514 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19066359 20061726 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19066371 19074991 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19074991 19090388 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19080069 19135847 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19080069 19169035 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19081849 19126542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 19090376 19813163 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19090376 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19090376 20224751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19090388 19090596 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19090388 20224763 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 19090596 19103576 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19095051 19456317 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr15 19103564 19548923 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19103564 19566863 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19103564 19813163 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 19103564 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19103564 20224751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19103564 20232428 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19103576 19107947 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19103576 20232614 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 19106206 19123165 Gain Normal TaqMan assays 20972442 NOT_FOUND chr15 19107947 19109352 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19109000 28709000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ATP10A,CHEK2P2,CXADRP2,CYFIP1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P2,HERC2P3,HERC2P7,IPW,LOC100128714,LOC283683,LOC348120,LOC503519,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 19109124 100169124 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19109154 33140043 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr15 19109352 19120453 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19109352 19548923 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19109352 19566863 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19109352 20089383 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19109352 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19110000 20070000 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr15 19120441 19503752 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19120441 19787121 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19120453 19123078 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19123078 19131850 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19130353 19566863 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19130353 19830378 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19130505 19541614 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 19131850 19134275 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19134275 19189673 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19134810 19221496 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 19135847 19308790 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19138378 19484504 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19138378 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19139098 19243862 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19146835 19566863 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19161799 19239050 Gain Normal TaqMan assays 20972442 NOT_FOUND chr15 19163125 20077554 Amplification Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr15 19172949 19566863 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19183227 19475419 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19186997 19187889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19189673 19238955 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19189828 19221336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 19189937 19190785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19199516 19308790 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19201070 19252286 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19204036 19204142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19205624 19206038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19222353 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19222353 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19235448 19235532 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19238955 19244462 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19239501 19241500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19244462 19257059 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19248501 19252000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19257059 19293582 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19264501 19266500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19264747 19265427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19269079 19270174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19269079 19270174 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19269079 19270174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19279501 19283000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19283001 19293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19283673 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19293501 19298500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19293582 19296130 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19296130 19314127 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19303160 19404194 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19305238 19484504 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19305238 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19305238 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19305253 19336348 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19305253 19336667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19305253 19336667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19308284 19813163 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19313964 20224751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19314127 19334428 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19320573 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19320573 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19322142 19462007 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19325168 19325274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19325168 19325274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19325169 19325274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19334416 19886353 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19334428 19349150 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19338171 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19341408 19344715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19349150 19364299 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19349241 19412262 Gain Normal TaqMan assays 20972442 NOT_FOUND chr15 19350967 19462007 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19364299 19414934 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19366387 20224751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19368467 19566863 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19378713 19566863 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19378713 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19379303 80767738 Duplication Intellectual disability Array CGH 22102821 AAGAB,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADPGK,ADPGK-AS1,AGPHD1,ALDH1A2,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANXA2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLOC1S6,BMF,BNIP2,BUB1B,C15orf23,C15orf27,C15orf29,C15orf37,C15orf39,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPLX3,CRABP1,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAUS2,HCN4,HDC,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HSP90AB4P,IDH3A,IGDCC3,IGDCC4,IMP3,INO80,IPW,IQCH,IQCH-AS1,IREB2,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIF23,KLF13,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145783,LOC145837,LOC145845,LOC253044,LOC283663,LOC283683,LOC283688,LOC283710,LOC283731,LOC348120,LOC440288,LOC503519,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC653061,LOC653075,LOC727924,LOC729739,LOC729911,LOC91450,LOXL1,LOXL1-AS1,LPCAT4,LRRC49,LRRC57,LTK,LYSMD2,MAGEL2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MEGF11,MEIS2,MFAP1,MGA,MGC15885,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1282,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4712,MIR4713,MIR4715,MIR4716,MIR5003,MIR548H4,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NIPA1,NIPA2,NOP10,NOX5,NPAP1,NPTN,NR2E3,NRG4,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDIA3,PEAK1,PGBD4,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PML,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCN2,REREP3,RFX7,RHOV,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAPER,SCARNA14,SCG3,SCG5,SECISBP2L,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLC51B,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,STARD9,STOML1,STRA6,STRC,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TIPIN,TJP1,TLE3,TLN2,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP3,USP50,USP8,VPS13C,VPS18,VPS39,WDR61,WDR72,WDR76,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF609,ZNF770,ZSCAN29,ZWILCH chr15 19396468 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19406830 19566863 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19406830 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19406830 20089383 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19409501 19413000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19412263 19434197 Gain Normal TaqMan assays 20972442 NOT_FOUND chr15 19412503 19462007 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19412503 19466183 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19412503 19566863 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19412503 19803358 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19412503 20224751 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19414802 19458771 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19414802 19462007 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19414802 19466183 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19414802 19566863 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19414934 19419324 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19418025 19453343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 19419324 19422452 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19422452 19438545 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19423721 19427649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19427350 19427409 Loss Bladder cancer array-CGH 21909424 NOT_FOUND chr15 19427786 19431023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19428399 19429010 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr15 19438545 19462019 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19451059 19456767 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 51945398 51946448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15 chr15 19454751 20160195 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr15 19458525 20061726 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19462019 19466195 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19465347 20083881 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19466195 19475431 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19472751 19637500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19473184 19566875 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 51947322 51948200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15 chr15 19475431 19488342 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19488342 19503764 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19501231 19590127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19503764 19523446 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19522990 19524993 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19523446 19533677 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19523446 19566875 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 19524938 20078386 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19524938 20078386 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19524938 20149558 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19530735 20078386 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19530735 20078386 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19533677 19548935 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19535697 20089383 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19535697 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19535697 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19535697 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19535697 20303134 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19539816 19606086 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19548923 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19548935 19566875 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19550974 19551435 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19566863 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19566875 19764921 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19572831 19573126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19572831 19573126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19620671 19621307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19624910 19634453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 51963035 51963156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15 chr15 19637501 20003500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 19650541 19988221 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr1 51966905 52056443 Gain and loss Pancreatic cancer SNP array 17952125 EPS15 chr15 19764921 19781841 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19764921 20084266 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 19764921 20232614 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 19781748 20136700 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr15 19781829 20061726 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19781829 20089383 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19781829 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19781829 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19781829 20224751 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19781829 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19781829 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19781841 19786318 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19786318 19788634 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19787121 19957456 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19787121 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19787121 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19788495 19900599 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr15 19788634 19792388 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19790796 20078386 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19790796 20078386 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19791326 19970466 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19791326 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19791326 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19791326 20382314 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19791326 20382314 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19791326 20428072 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19791340 38944382 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf55,CHEK2P2,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,CXADRP2,CYFIP1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAM98B,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GJD2,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC145845,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,MAGEL2,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,PGBD4,POTEB,PWRN1,PWRN2,RASGRP1,REREP3,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SPRED1,TJP1,TMCO5A,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3,ZNF770 chr15 19792388 19794591 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19793227 19942240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19794591 19803369 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19796866 19809811 Complex Normal Quantitative PCR 18989455 NOT_FOUND chr15 19796866 19809811 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr15 19796866 19809811 Loss Normal Quantitative PCR 18989455 NOT_FOUND chr15 19799531 20033961 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19799531 20033961 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19799531 20078386 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19799531 20092999 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19799531 20092999 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19799531 20149558 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19799531 20149558 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19803358 19965574 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803358 20073181 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803358 20089383 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803358 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803358 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803358 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803358 20089383 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19803358 20224751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803358 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803358 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19803369 19803370 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19803370 19813174 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19803370 20089386 Deletion Cancer Affymetrix Genome-Wide Human SNP Array 6.0 21249187 NOT_FOUND chr15 19804548 19885172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19804548 19885172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19813162 20224751 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19813174 19911350 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 51981375 51981453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPS15 chr15 19818864 19965574 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19818864 19983598 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19818864 20089383 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19818864 20089383 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 19818864 20232428 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19818864 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19820319 19820978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19821175 20077518 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 19821421 100192115 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 19821421 20089383 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 19821421 20335459 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr15 19827281 20329239 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr15 19833638 19874988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 19833950 19834559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19835514 20232428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19836101 19847400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 19838217 19845455 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19840307 20089383 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19852349 20051711 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19852349 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19857589 20085783 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19866208 19867149 Gain Normal BAC array 16365383 NOT_FOUND chr15 19869940 19870881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19869940 19870881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19869940 19870881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19874443 19885016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19876834 20005562 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr15 19880105 19881055 Gain Normal BAC array 16365383 NOT_FOUND chr15 19882225 20061726 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19882296 19989036 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr15 19883837 19884787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19884553 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19886353 20073181 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19886353 20084761 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19886353 20089383 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19886353 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19886462 20232614 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 19886615 20145489 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 19886615 20145489 Gain Non-syndromic sensorineural hearing loss 610K,Agilent24M 19587683 NOT_FOUND chr15 19890000 20010000 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr15 19894827 19917746 Loss Normal Quantitative PCR 18989455 NOT_FOUND chr15 19911350 19922490 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19915066 19915749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19915066 19915749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19915066 19915749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19922490 19951021 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19927930 21022680 Duplication Schizophrenia NimbleGen HD2 platform 21346763 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1 chr15 19932331 20097557 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19932331 20097557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 19937134 19937355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 19941764 19942210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19949736 19967857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19951021 19957468 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19957468 20056074 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 19958100 20053879 Loss aortic dissecting aneurysms Array-CGH 22263138 NOT_FOUND chr15 19958100 20053879 Loss Stenocardia MACArray Karyo 102K BAC-chips 21860640 NOT_FOUND chr15 19958100 20053879 Loss Vasospasm MACArray Karyo 102K BAC-chips 21860640 NOT_FOUND chr15 19970467 20097557 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr15 19974266 19974743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 19974269 19974756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 19985717 20089383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 19987752 20224751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 20003501 20049000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 20007961 22959966 Copy number Lung cancer paired-end sequencing 18438408 CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,HERC2P3,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5 chr15 20010000 33180000 Loss Breast cancer aCGH 21509527 APBA2,ARHGAP11A,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SCG5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3 chr1 5200140 5470944 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 20014593 20014644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20056074 20068022 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 20062112 20062304 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr15 20068022 20068512 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 20068512 20073122 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 20073122 20089383 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 20089383 20089386 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 20089386 20089387 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 20089387 20224763 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 20090262 21038099 Gain Autism Illumina 550K(Glessner et al. 2009) 20531469 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1 chr15 20091229 20983618 Loss Neuroblastoma aCGH 20406844 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1 chr15 20189401 32472550 Copy number Normal ReadDepth: A Parallel R Package 21305028 APBA2,ARHGAP11B,ATP10A,CHEK2P2,CHRFAM7A,CHRNA7,CXADRP2,CYFIP1,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,MAGEL2,MIR211,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2,WHAMMP3 chr15 20197558 20382314 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 20197558 20382314 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 20197558 20428072 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 20197558 20428072 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 20199291 20307804 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr15 20200000 20800000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20201673 21259305 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,NBEAP1,NF1P2,POTEB chr15 20203685 20795813 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20203685 20795813 Microdeletions idiopathic generalized epilepsy high-density single nucleotide polymorphism arrays 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20203685 20795813 Microdeletions Schizophrenia high-density single nucleotide polymorphism arrays 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20203685 20971169 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1 chr15 2020477 20629367 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 CHEK2P2,HERC2P3 chr15 2020477 20763914 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 CHEK2P2,GOLGA6L6,HERC2P3 chr15 2020477 20795813 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 2020477 20850488 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20224751 20777909 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20224751 20799862 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20224751 20852202 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20224763 20232439 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 20231618 20285790 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 20233523 20234523 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 20235613 20807351 Gain Autism qPCR 20531469 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20242380 20244541 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20253717 20267066 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20253724 20267066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20253724 20267066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20253909 20704897 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHEK2P2,HERC2P3 chr15 20253909 20704897 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHEK2P2,HERC2P3 chr15 20257292 20257374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20258248 20258526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20258301 20258459 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20258301 20258459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20267223 22215555 Substitutions and indels small cell lung cancer array-CGH 20016488 CHEK2P2,CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB chr1 52027472 52116974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr1 52027472 52116974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr15 20287610 20294983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20287610 20294983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20294732 20297366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20294732 20297366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20301665 20795813 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20303106 20800564 Gain Autism qPCR, Illumina1M 20531469 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20303106 20836955 Loss Autism qPCR, Agilent1M, Illumina1M 20531469 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20305097 20773130 Loss Autism MLPA 20531469 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20306549 20777695 Deletion Schizophrenia HumanHap300 chip, the HumanHap550 chip, the Affymetrix GeneChip GenomeWide SNP 6.0 18668039 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20306549 20777695 Deletion Schizophrenia References 18990708 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20310606 20850488 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3 chr15 20318000 100211000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 20318000 38892000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf55,CHEK2P2,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,CXADRP2,CYFIP1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAM98B,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GJD2,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC145845,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,MAGEL2,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,PGBD4,POTEB,PWRN1,PWRN2,RASGRP1,REREP3,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SPRED1,TJP1,TMCO5A,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3,ZNF770 chr15 20329239 20686315 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 CHEK2P2,HERC2P3 chr1 52033062 52033160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 20359182 20360182 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 20359229 20360229 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 20359945 20382656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 20366333 20398904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 20366669 26193909 Deletion Developmental delay array CGH 20808231 ATP10A,CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC100128714,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20366669 26193909 Deletion Obesity array CGH 20808231 ATP10A,CHEK2P2,CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC100128714,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20374001 20385500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 20380396 20380396 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 20384835 20425332 Amplification or deletion Normal BAC aCGH 22315515 NOT_FOUND chr15 20384836 20425331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20384836 20425331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20384869 20425331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20385501 21223000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,NBEAP1,NF1P2,POTEB chr15 20387310 20988171 Loss Autism 1M Ailent CGH whole-genome array 21865298 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1 chr15 20409740 21010428 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1 chr15 20414442 20422689 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr15 20439260 20440260 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 20442152 20442452 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 20444104 20555043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHEK2P2 chr15 20444104 20555043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHEK2P2 chr15 20444124 20555044 Amplification or deletion Normal BAC aCGH 22315515 CHEK2P2 chr15 20444174 20555043 Gain and loss Pancreatic cancer SNP array 17952125 CHEK2P2 chr15 20449913 20450913 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 20450115 20451115 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 20480103 20480203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 20481654 21481654 Deletion or amplification Glioblastoma multiforme - 21525872 CHEK2P2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,NBEAP1,NF1P2,POTEB chr15 20535877 20536877 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 20556790 20585849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20556790 20585849 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20556790 20585849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20588243 20588308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 20594720 20637877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HERC2P3 chr15 20594720 20637877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC2P3 chr15 20594720 20638284 Gain and loss Pancreatic cancer SNP array 17952125 HERC2P3 chr15 20611271 20612271 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 20615393 20630187 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HERC2P3 chr15 20615844 20697030 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HERC2P3 chr15 20617836 20617969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HERC2P3 chr1 52063816 52097085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OSBPL9 chr15 20641685 20679775 Loss Normal 244K array 17666407 HERC2P3 chr15 20643792 20644792 Loss Renal cell carcinoma References 21215367 HERC2P3 chr15 20658550 20659585 Loss Normal Birdsuite, version 1.5.2 22087296 HERC2P3 chr15 20659585 20675140 Loss Normal Birdsuite, version 1.5.2 22087296 HERC2P3 chr15 20666179 20666479 Loss Renal cell carcinoma References 21215367 HERC2P3 chr15 20675140 20676330 Loss Normal Birdsuite, version 1.5.2 22087296 HERC2P3 chr1 52067568 52102631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OSBPL9 chr15 20679849 20691819 Gain and loss Pancreatic cancer SNP array 17952125 HERC2P3 chr15 20700000 102531392 Loss Basal cell lymphoma Array CGH 16317097 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 20700000 102531392 Loss Diffuse large b-cell lymphoma Array CGH 16317097 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPA1,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 20700000 25700000 Copy number Schizophrenia References 19521646 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 25700000 Deletion Amyotrophic lateral sclerosis HumanHap 300, HumanHap 550,HumanCNV 370 and the HumanHap 610 20685689 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 25700000 Deletion Colorectal cancer GISTIC software 19359472 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 25700000 Deletion Epilepsy ref 20923578 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 25700000 Deletion Schizophrenia High-density SNP microarrays 19348701 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 25700000 Deletion Schizophrenia References 19571808 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 25700000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 25700000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 25700000 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,IPW,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 20700000 40100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,CXADRP2,CYFIP1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAM98B,FAN1,FMN1,FSIP1,GABRA5,GABRB3,GABRG3,GJD2,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC145845,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,MAGEL2,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,PGBD4,POTEB,PWRN1,PWRN2,RASGRP1,REREP3,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SPRED1,THBS1,TJP1,TMCO5A,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3,ZNF770 chr15 20700000 40100000 Loss Breast cancer Microarray-based CGH 17133270 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,CXADRP2,CYFIP1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAM98B,FAN1,FMN1,FSIP1,GABRA5,GABRB3,GABRG3,GJD2,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC145845,LOC283683,LOC283710,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,MAGEL2,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MKRN3,MTMR10,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,PGBD4,POTEB,PWRN1,PWRN2,RASGRP1,REREP3,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SPRED1,THBS1,TJP1,TMCO5A,TMCO5B,TRPM1,TUBGCP5,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3,ZNF770 chr15 20700000 67300000 Gain Prostate cancer Array CGH 16573809 ACTC1,ADAL,ADAM10,ALDH1A2,ANKDD1A,ANKRD63,ANP32AP1,ANXA2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARPP19,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BNIP2,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNB2,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CILP,CKMT1A,CKMT1B,CLPX,COPS2,CSNK1A1P1,CSNK1G1,CTDSPL2,CTXN2,CXADRP2,CYFIP1,CYP19A1,DAPK2,DCAF13P3,DENND4A,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FBN1,FBXL22,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GJD2,GLDN,GNB5,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GREM1,GTF2A2,HAUS2,HDC,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HMGN2P46,HSP90AB4P,IGDCC3,IGDCC4,INO80,IPW,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KLF13,LACTB,LCMT2,LCTL,LDHAL6B,LEO1,LIPC,LOC100128714,LOC100130855,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145783,LOC145845,LOC283663,LOC283683,LOC283710,LOC348120,LOC503519,LOC645212,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,LRRC57,LTK,LYSMD2,MAGEL2,MAP1A,MAP2K1,MAPK6,MAPKBP1,MEGF11,MEIS2,MFAP1,MGA,MGC15885,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1282,MIR147B,MIR190A,MIR211,MIR2116,MIR3942,MIR4310,MIR4311,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4712,MIR4713,MIR4715,MIR4716,MIR626,MIR627,MIR628,MKRN3,MNS1,MRPL42P5,MTFMT,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NF1P2,NIPA1,NIPA2,NOP10,NPAP1,NUSAP1,OAZ2,OCA2,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAR-SN,PAR1,PAR4,PAR5,PARP16,PATL2,PDCD7,PDIA3,PGBD4,PHGR1,PIF1,PIGB,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,POLR2M,POTEB,PPIB,PPIP5K1,PPP1R14D,PRTG,PTPLAD1,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRP1,RASL12,RBPMS2,REREP3,RFX7,RHOV,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCARNA14,SCG3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLC51B,SLTM,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNURF,SNX1,SNX22,SORD,SPATA5L1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,THBS1,TIPIN,TJP1,TLN2,TMCO5A,TMCO5B,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TTBK2,TUBGCP4,TUBGCP5,TYRO3,UBAP1L,UBE3A,UBR1,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP3,USP50,USP8,VPS13C,VPS18,VPS39,WDR72,WDR76,WHAMMP1,WHAMMP2,WHAMMP3,ZFP106,ZFYVE19,ZNF280D,ZNF609,ZNF770,ZSCAN29,ZWILCH chr15 20709311 20709598 Gain and loss Pancreatic cancer SNP array 17952125 HERC2P3 chr15 20709312 20709598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC2P3 chr15 20709769 20753392 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 GOLGA6L6,HERC2P3 chr15 20739169 20759798 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 GOLGA6L6 chr15 20739172 20759858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L6 chr15 20739172 20759858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L6 chr1 52074595 52074670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20746157 20759705 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA6L6 chr1 52075979 52104707 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OSBPL9 chr15 20762791 21066294 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8C,NBEAP1,POTEB chr15 20762791 21066294 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8C,NBEAP1,POTEB chr15 20762791 21365850 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8C,LOC348120,NBEAP1,NF1P2,POTEB chr15 20762791 21365850 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8C,LOC348120,NBEAP1,NF1P2,POTEB chr15 20800842 20843535 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NOT_FOUND chr1 52080553 52096758 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OSBPL9 chr15 20806682 20814184 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr15 20806683 20814184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20806683 20820192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20808749 21066294 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBEAP1,POTEB chr15 20808749 21066294 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBEAP1,POTEB chr15 20808749 21365850 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC348120,NBEAP1,NF1P2,POTEB chr15 20815149 20815427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20815216 20815383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20815216 20815383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20815590 20816108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20816307 20816389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 52082341 52086718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OSBPL9 chr15 20829990 20883368 Gain Normal BAC array 16365383 NBEAP1 chr15 20830000 22550000 Gain Breast cancer aCGH 21509527 CXADRP2,LOC348120,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 chr15 20833722 20878094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEAP1 chr15 20833722 20878094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEAP1 chr15 20833729 20929700 Gain and loss Pancreatic cancer SNP array 17952125 NBEAP1 chr15 20849628 20849728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 20894308 21066294 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBEAP1,POTEB chr15 20894308 21066294 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBEAP1,POTEB chr15 20934063 20974228 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NBEAP1 chr15 20955307 20957942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEAP1 chr15 20956228 20956602 Gain and loss Pancreatic cancer SNP array 17952125 NBEAP1 chr1 52096858 52168369 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL9 chr1 52098037 52098392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr15 20986537 20999858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20986537 20999858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20986537 21161461 Gain and loss Pancreatic cancer SNP array 17952125 LOC348120,NF1P2,POTEB chr15 20995057 20995335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20995124 20995282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 20995124 20995282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 20996209 20996291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 21008203 21023784 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 21016715 21019583 Gain Normal BAC array 16365383 NOT_FOUND chr15 21020447 21023315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 52103893 52103969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr15 21050967 21051646 Gain and loss Pancreatic cancer SNP array 17952125 POTEB chr15 2110631 19781829 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 NOT_FOUND chr15 2110631 20224751 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 NOT_FOUND chr15 21119422 21161145 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 LOC348120,NF1P2 chr15 21121113 21123747 Gain and loss Pancreatic cancer SNP array 17952125 NF1P2 chr15 21121113 21123747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF1P2 chr15 21142828 100071568 Gain Multiple myeloma FISH 20724749 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr1 52114612 52114712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL9 chr15 21159869 21160147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC348120 chr15 21159936 21160094 Gain and loss Pancreatic cancer SNP array 17952125 LOC348120 chr15 21159936 21160094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC348120 chr15 21161032 21161114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC348120 chr15 21168830 21209623 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 LOC348120 chr15 21190624 26203954 Gain Autism qPCR 20531469 ATP10A,CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC100128714,LOC283683,LOC348120,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 21192956 21230588 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC348120 chr15 21200234 26208861 Duplication Autism quantitative PCR 19404257 ATP10A,CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC100128714,LOC283683,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 21203223 21236433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 21208377 26193908 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ATP10A,CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC100128714,LOC283683,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 21208377 26232997 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ATP10A,CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC100128714,LOC283683,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 21213950 21213950 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr15 21213950 21213950 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr15 21222646 21226742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 21223001 21225250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 21236131 21243474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 21236131 21243474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 21236131 21243483 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 21240037 26095621 Gain Autism - 20841430 ATP10A,CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC283683,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 21240037 26208861 Duplication Schizophrenia PennCNV software 19197363 ATP10A,CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC100128714,LOC283683,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 21250564 21250823 Gain Normal 244K array 17666407 NOT_FOUND chr15 21258545 26193908 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ATP10A,CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC100128714,LOC283683,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 21260328 30302218 Duplication Schizophrenia PennCNV software 19197363 APBA2,ATP10A,CXADRP2,CYFIP1,FAM189A1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L7P,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P2,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100289656,LOC283683,LOC503519,LOC646214,LOC646278,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TUBGCP5,UBE3A,WHAMMP2,WHAMMP3 chr15 21280101 21280401 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr15 21280398 21281398 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr15 21283468 21665724 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr15 21301783 22083695 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CXADRP2,LOC646214,POTEB chr15 21304701 21305701 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 21309486 26230781 Deletion Normal - 21701786 ATP10A,CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC100128714,LOC283683,LOC646214,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NF1P2,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 21319206 21320206 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 21343866 21505342 Gain Autism - 20841430 NOT_FOUND chr15 21361546 21407800 Copy number Lung cancer - 20668451 NOT_FOUND chr15 21361546 21407800 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 21361546 21407800 Gain or loss Cancer - 20668451 NOT_FOUND chr15 21361546 21407800 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 21361546 21407800 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 21361546 21407800 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 21361546 21407800 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 21361547 21364653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 21361547 21364653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 21361914 21364679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 21437441 21438441 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 21439790 21444086 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 21440233 21441823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 21440233 21441823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 21441001 21444000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 21481646 21483543 Copy number Prader-willi syndrome MLPA 22283845 NOT_FOUND chr15 21481646 21483543 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 21481916 21483570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 21481916 21483570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 21482492 21483457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 52151103 52151218 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL9 chr1 52151104 52151198 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL9 chr15 21535498 21549305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 21543180 21547031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 21573677 21573783 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 21573677 21573783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 52157425 52228936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr1 52157425 52228936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr15 21595969 22587078 LOH Normal High-resolution SNP genotyping 21211785 CXADRP2,LOC646214,LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 chr15 21606471 21612736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 21606530 21610400 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 21606642 21616857 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 21607011 21719891 Gain Stenocardia MACArray Karyo 69K BAC-chips 21860640 NOT_FOUND chr15 21607011 21719891 Gain Vasospasm MACArray Karyo 69K BAC-chips 21860640 NOT_FOUND chr15 21610456 21643325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 21658807 21658962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 21665724 22211804 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CXADRP2,LOC646214,NF1P2,POTEB chr15 21697275 22697418 LOH Normal High-resolution SNP genotyping 21211785 CXADRP2,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 chr1 52173433 52173732 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL9 chr1 52173437 52173732 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL9 chr15 21758151 21758459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 52178047 52178146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL9 chr15 21786025 21786325 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr15 21792673 21793673 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr15 21792946 21793946 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 21805431 22153795 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CXADRP2,LOC646214,NF1P2,POTEB chr15 21805431 22401948 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CXADRP2,LOC646214,LOC727924,NF1P2,OR4M2,OR4N4,POTEB chr15 21805431 22452007 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CXADRP2,LOC646214,LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB chr15 21805431 22452007 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CXADRP2,LOC646214,LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB chr15 21881157 21930943 Gain or loss Normal aCGH 21627829 NOT_FOUND chr15 21890509 22264703 Duplication Normal Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214,NF1P2,POTEB chr15 21895543 22055238 Deletion Normal Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214,POTEB chr15 21895543 22258398 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214,NF1P2,POTEB chr15 21895555 22359729 Copy number Normal Birdsuite, version 1.5.2 22087296 CXADRP2,LOC646214,LOC727924,NF1P2,POTEB chr15 21897017 21937353 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 LOC646214 chr15 21898042 22057470 Gain or loss Normal aCGH 21627829 CXADRP2,LOC646214,POTEB chr15 21900000 22700000 Copy number Cognitive impairment - 21505072 CXADRP2,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 chr15 21900084 22055238 Deletion Normal Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214,POTEB chr15 21900084 22063116 Deletion Normal Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214,POTEB chr15 21900084 22063116 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214,POTEB chr15 21901594 22021522 Loss Normal 244K array 17666407 CXADRP2,LOC646214 chr15 21901726 22063116 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214,POTEB chr15 21903391 22050217 Copy number loss Normal High-resolution SNP genotyping 21211785 CXADRP2,LOC646214 chr15 21905523 22023095 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 CXADRP2,LOC646214 chr15 21908260 22076598 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CXADRP2,LOC646214,POTEB chr15 21908305 22026287 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214 chr15 21909391 22055238 Deletion Normal Affymetrix 6.0 microarrays 20967226 CXADRP2,LOC646214,POTEB chr15 21910000 22670000 Copy number Cognitive impairment - 21505072 CXADRP2,LOC646214,LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 chr15 21914925 22008680 Gain Autism qPCR 20531469 LOC646214 chr15 21933536 21985625 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC646214 chr15 21944728 21987843 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NOT_FOUND chr15 21971346 22295736 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CXADRP2,LOC727924,NF1P2,POTEB chr15 21973286 22176925 Deletion Normal Affymetrix 6.0 microarrays 20967226 CXADRP2,NF1P2,POTEB chr1 52197827 52233864 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL9 chr1 5220001 5648500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4417 chr15 22000237 22040026 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 CXADRP2 chr15 22008036 22064226 Gain Normal aCGH 21627829 CXADRP2,POTEB chr15 22023323 22276386 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NF1P2,POTEB chr15 22023323 22294554 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC727924,NF1P2,POTEB chr15 22029857 22065565 Gain or loss Normal Birdsuite, version 1.5.2 22087296 POTEB chr15 22034126 22264506 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NF1P2,POTEB chr15 22036906 22057667 Gain Normal aCGH 21627829 POTEB chr15 22037969 22346531 Gain Normal aCGH 21627829 LOC727924,NF1P2,POTEB chr15 22038903 22055582 Gain Normal 244K array 17666407 POTEB chr15 22063116 22202117 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NF1P2,POTEB chr15 22063116 22258398 Duplication Normal Affymetrix 6.0 microarrays 20967226 NF1P2,POTEB chr15 22063116 22265871 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NF1P2,POTEB chr15 22065713 22220838 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NF1P2,POTEB chr15 22071426 22098514 Loss Normal Birdsuite, version 1.5.2 22087296 POTEB chr15 22074414 22114578 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 POTEB chr15 22075954 22219532 Loss Normal aCGH 21627829 NF1P2,POTEB chr15 22076912 22222014 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NF1P2,POTEB chr15 22098514 22114522 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 52210285 52210385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL9 chr1 52210390 52211454 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL9 chr15 22107442 22146068 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NF1P2 chr15 22114522 22125850 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22116646 22328177 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC727924,NF1P2 chr15 22116646 22328177 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC727924,NF1P2 chr1 52211670 52211795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr15 22117169 22338771 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC727924,NF1P2 chr15 22118713 22328177 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC727924,NF1P2 chr15 22118713 22328177 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC727924,NF1P2 chr15 22122430 22333750 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC727924,NF1P2 chr15 22125850 22161116 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NF1P2 chr15 22126361 22127361 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 22126383 22127383 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 22129580 22324740 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC727924,NF1P2 chr15 22129580 22333750 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC727924,NF1P2 chr15 22131575 22301100 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC727924,NF1P2 chr15 22131584 22295736 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC727924,NF1P2 chr15 22131584 22401948 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC727924,NF1P2,OR4M2,OR4N4 chr15 22131584 22452007 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4 chr15 22140119 22299861 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 LOC727924,NF1P2 chr15 22140736 22324740 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC727924,NF1P2 chr15 22140736 22338759 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC727924,NF1P2 chr15 22149509 22165215 Loss Normal aCGH 21627829 NOT_FOUND chr15 22155449 22205345 Loss Normal aCGH 21627829 NOT_FOUND chr15 22161116 22220838 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22164630 22203973 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NOT_FOUND chr1 52218733 52219074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr15 22187522 22264518 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 22197270 22278664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC727924 chr15 22202279 22299076 Loss Normal aCGH 21627829 LOC727924 chr15 22211804 22539452 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC727924,OR4M2,OR4N3P,OR4N4 chr15 22214855 22265951 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 22214855 22269266 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 22214855 22321606 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC727924 chr15 22216498 22275711 Loss Normal aCGH 21627829 NOT_FOUND chr15 22220838 22225844 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22220838 22269689 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 22223136 22269801 Loss Normal aCGH 21627829 NOT_FOUND chr15 22223136 22283122 Gain Normal aCGH 21627829 LOC727924 chr15 22225832 22258398 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 22225832 22269677 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 22225844 22226226 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22225844 22269689 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 22226226 22231485 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22226226 22267930 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 22226715 22268199 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr15 22231485 22232275 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22231485 22269266 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 22231831 22312283 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC727924 chr15 22232275 22237903 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22232480 22272810 Loss Normal 244K array 17666407 NOT_FOUND chr15 22233638 22272822 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 22233638 22276769 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 22233638 22276769 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 22233638 22283024 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC727924 chr15 22233638 22283024 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC727924 chr15 22235638 22262587 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 22235638 22262587 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr15 22237903 22244482 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22244482 22263412 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22263412 22264116 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22264116 22265883 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22265883 22269689 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22269689 22276385 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22276385 22276386 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 22276386 22297003 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC727924 chr15 22280583 26198679 Substitutions and indels small cell lung cancer array-CGH 20016488 ATP10A,CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,IPW,LOC100128714,LOC283683,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NDN,NIPA1,NIPA2,NPAP1,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TUBGCP5,UBE3A,WHAMMP3 chr15 22297003 22301113 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC727924 chr15 22301113 22324752 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC727924 chr15 22324752 22329508 Loss Normal Birdsuite, version 1.5.2 22087296 LOC727924 chr15 22329509 22343467 Loss Normal Birdsuite, version 1.5.2 22087296 LOC727924 chr15 22331053 22373138 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 LOC727924,OR4M2 chr1 52233994 52266085 Gain and loss Pancreatic cancer SNP array 17952125 NRD1,OSBPL9 chr1 52234000 52234297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL9 chr15 22389213 22424505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR4N3P chr15 22390411 22390732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 22471634 22479686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22471634 22479686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22471825 22472765 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 22472108 22475578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22520693 22521693 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 22525036 22526036 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 22525085 22526085 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 22525788 22526788 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 22525832 22526832 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 22533886 22534886 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 22538311 22539311 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 22539452 23112836 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CYFIP1,GOLGA6L1,GOLGA8DP,LOC283683,MIR4509-1,MIR4509-2,MIR4509-3,NIPA1,NIPA2,REREP3,TUBGCP5 chr1 52258394 52293635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRD1 chr1 52258394 52293635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRD1 chr15 22616631 22636111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 22618390 22620218 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 22619886 22795318 Copy number microdeletion syndrome fluorescence in situ hybridization (FISH) 19284877 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 chr15 22619886 22795318 Copy number Prader-willi syndrome MLPA 22283845 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 chr15 22619887 22776293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 chr15 22619887 22776293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 chr15 22619887 22795268 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 chr15 22648342 22662264 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 22652824 22770696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 chr15 22652824 22770696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 chr15 22658107 22665249 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 22658107 22665249 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr15 22666201 22671700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 22668086 22669086 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 22669830 22670830 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 52270363 52272076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRD1 chr1 52270363 52272076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRD1 chr15 22705169 22705912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA8DP chr15 22751162 22765069 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 22760734 22761734 Loss Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 22760734 22761734 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 22778234 22778308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22781340 22781406 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22781340 22781406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22812866 23013409 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYFIP1,NIPA2,TUBGCP5 chr15 22835594 23010179 Microdeletion Prader-willi syndrome Arraybased comparative genomic hybridization (array CGH);quantitative real-time PCR 18500341 CYFIP1,NIPA2,TUBGCP5 chr15 22838214 22838280 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22842143 22842143 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 TUBGCP5 chr15 22842143 22842143 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 TUBGCP5 chr15 22842145 22842145 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 TUBGCP5 chr15 22842145 22842145 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 TUBGCP5 chr15 22845622 22885529 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TUBGCP5 chr15 22846501 22869000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TUBGCP5 chr15 22847717 22847811 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22847717 22847811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22850450 22850544 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22850450 22850544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22853100 22853194 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22853100 22853194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22855778 22855873 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22855778 22855873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22858573 22858667 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22858573 22858667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22861266 22861361 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22861266 22861361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22864028 22864122 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22864028 22864122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22866672 22866766 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22866672 22866766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22869347 22869441 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22869347 22869441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22870354 22870455 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22870354 22870455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22870355 22870455 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22872169 22872260 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22872169 22872260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22873106 22881500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22873291 22873382 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP5 chr15 22873291 22873382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP5 chr15 22874501 22879400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 22875298 22875389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22875298 22875389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22876382 22876473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22876382 22876473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22877527 22877618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22877527 22877618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22879008 22879099 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22879008 22879099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22879828 22879919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22879828 22879919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22881625 22881716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22881625 22881716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22882767 22882858 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22882767 22882858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22883142 22883242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 22883902 22883993 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22883902 22883993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22885044 22885135 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22885044 22885135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22886163 22886254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22886163 22886254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22888026 22888117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22888026 22888117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22888201 22888617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22890277 22890368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 22890277 22890368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 22893903 22893994 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22895739 22895834 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22897815 22897906 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22900882 22900971 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22902761 22902843 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22902761 22902843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr1 5229374 6509870 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACOT7,CHD5,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,MIR4252,MIR4417,MIR4689,NPHP4,RNF207,RPL22 chr1 52294385 52328976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR761,NRD1 chr1 52294385 52328976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR761,NRD1 chr15 22955461 22955519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22966501 23050000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYFIP1,NIPA1,NIPA2 chr15 22966963 22967044 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22966963 22967044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22966969 22967044 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22967152 23432303 Gain Normal 244K array 17666407 CYFIP1,GOLGA8IP,HERC2P2,HERC2P7,LOC283683,NIPA1,NIPA2,WHAMMP3 chr15 22968875 22968956 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22968875 22968956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22968881 22968956 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22971167 22971248 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22971167 22971248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22971173 22971247 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22973072 22973153 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22973072 22973153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22973078 22973153 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22974491 23049688 Copy number Lung cancer paired-end sequencing 18438408 CYFIP1,NIPA1,NIPA2 chr15 22974978 22975059 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22974978 22975059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22974984 22975059 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22976737 22976818 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22976737 22976818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22976743 22976818 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22978625 22978706 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22978625 22978706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22978631 22978706 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22980546 22980627 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22980546 22980627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22980552 22980627 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22981871 22981952 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22981871 22981952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22981877 22981952 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22983776 22983856 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22983776 22983856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22983782 22983856 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22985654 22985735 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22985654 22985735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22985660 22985735 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22987656 22987737 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22987656 22987737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22987662 22987737 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22987682 22989586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYFIP1 chr15 22989561 22989642 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22989561 22989642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22989567 22989642 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22991161 22991241 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22991161 22991241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22991167 22991241 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22993816 22993896 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22993816 22993896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22993822 22993896 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22995688 22995769 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22995688 22995769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22995694 22995769 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22997563 22997644 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22997563 22997644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22997569 22997644 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22999467 22999548 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 22999467 22999548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 22999473 22999548 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 23000597 23000678 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 23000597 23000678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 23000603 23000678 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 23002502 23002583 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 23002502 23002583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYFIP1 chr15 23002508 23002583 Gain and loss Pancreatic cancer SNP array 17952125 CYFIP1 chr15 23004323 23004403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23004323 23004403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 23004329 23004403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23006158 23006239 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23006158 23006239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23006164 23006239 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23008036 23008117 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23008036 23008117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23008042 23008117 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23009888 23009969 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23009888 23009969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23009895 23009969 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23011781 23011862 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23011781 23011862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23011787 23011862 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23014857 23014938 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23014857 23014938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23014864 23014938 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23015592 23017762 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NIPA2 chr15 23015626 23017771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NIPA2 chr15 23016737 23016818 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23016737 23016818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23016743 23016818 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23018587 23018668 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23018588 23018668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23018594 23018667 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23019486 23019567 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23019486 23019567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23019492 23019567 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23020941 23059757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NIPA1,NIPA2 chr15 23021443 23021524 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23021443 23021524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23021449 23021524 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23023349 23023430 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23023349 23023430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23023356 23023430 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23023385 23028662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NIPA2 chr15 23025207 23025288 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23025207 23025288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23025213 23025287 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23027078 23027159 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23027078 23027159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23027084 23027159 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23028627 23028708 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23028627 23028708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23028633 23028708 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23030487 23030568 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23030487 23030568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23030493 23030568 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23032325 23032406 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23032325 23032406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23032331 23032406 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23034226 23034307 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23034226 23034307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA2 chr15 23034232 23034307 Gain and loss Pancreatic cancer SNP array 17952125 NIPA2 chr15 23036078 23036159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23036078 23036159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 23036084 23036159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23037986 23038067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23037986 23038067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 23037992 23038067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23039854 23039935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23039854 23039935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 23039860 23039935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23041718 23041799 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23041718 23041799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 23041725 23041799 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23043585 23043666 Gain and loss Pancreatic cancer SNP array 17952125 NIPA1 chr15 23043585 23043666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA1 chr15 23043591 23043666 Gain and loss Pancreatic cancer SNP array 17952125 NIPA1 chr15 23045438 23045519 Gain and loss Pancreatic cancer SNP array 17952125 NIPA1 chr15 23045438 23045519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA1 chr15 23045444 23045519 Gain and loss Pancreatic cancer SNP array 17952125 NIPA1 chr15 23047099 23047180 Gain and loss Pancreatic cancer SNP array 17952125 NIPA1 chr15 23047099 23047180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA1 chr15 23047105 23047180 Gain and loss Pancreatic cancer SNP array 17952125 NIPA1 chr15 23060750 23060830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA1 chr15 23062828 23062904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA1 chr15 23064706 23064791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA1 chr15 23066023 23066098 Gain and loss Pancreatic cancer SNP array 17952125 NIPA1 chr15 23066023 23066098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPA1 chr15 23067311 75079254 Copy number Lung cancer paired-end sequencing 18438408 AAGAB,ACTC1,ADAL,ADAM10,ADPGK,ADPGK-AS1,ALDH1A2,ANKDD1A,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANXA2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARPP19,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2L10,BLOC1S6,BMF,BNIP2,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COPS2,CORO2B,CSK,CSNK1A1P1,CSNK1G1,CT62,CTDSPL2,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FBN1,FBXL22,FEM1B,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAUS2,HCN4,HDC,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMGN2P46,HSP90AB4P,IGDCC3,IGDCC4,INO80,IPW,IQCH,IQCH-AS1,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIF23,KLF13,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00277,LINC00593,LIPC,LOC100128714,LOC100130855,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145783,LOC145837,LOC145845,LOC283663,LOC283683,LOC283710,LOC283731,LOC440288,LOC503519,LOC645212,LOC646278,LOC653061,LOC653075,LOC729739,LOXL1,LOXL1-AS1,LPCAT4,LRRC49,LRRC57,LTK,LYSMD2,MAGEL2,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MEGF11,MEIS2,MFAP1,MGA,MGC15885,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1282,MIR147B,MIR190A,MIR211,MIR2116,MIR3942,MIR4310,MIR4311,MIR4312,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4712,MIR4713,MIR4715,MIR4716,MIR548H4,MIR626,MIR627,MIR628,MIR629,MIR630,MKRN3,MNS1,MRPL42P5,MTFMT,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEO1,NIPA1,NOP10,NOX5,NPAP1,NPTN,NR2E3,NUSAP1,OAZ2,OCA2,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDIA3,PGBD4,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PML,POLR2M,PPIB,PPIP5K1,PPP1R14D,PRTG,PTPLAD1,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRP1,RASL12,RBPMS2,RFX7,RHOV,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCARNA14,SCG3,SCG5,SECISBP2L,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLC51B,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNURF,SNX1,SNX22,SORD,SPATA5L1,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STOML1,STRA6,STRC,TBC1D21,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TIPIN,TJP1,TLE3,TLN2,TMCO5A,TMCO5B,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TTBK2,TUBGCP4,TYRO3,UACA,UBAP1L,UBE3A,UBL7,UBR1,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP3,USP50,USP8,VPS13C,VPS18,VPS39,WDR72,WDR76,WHAMMP1,WHAMMP2,WHAMMP3,ZFP106,ZFYVE19,ZNF280D,ZNF609,ZNF770,ZSCAN29,ZWILCH chr15 23074583 23074649 Gain and loss Pancreatic cancer SNP array 17952125 NIPA1 chr15 23133488 23235221 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 WHAMMP3 chr15 23133488 23235221 Copy number Prader-willi syndrome MLPA 22283845 WHAMMP3 chr15 23133488 23235221 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 WHAMMP3 chr15 23133488 23235221 Gain or loss Breast cancer - 20668451 WHAMMP3 chr15 23133488 23235221 Gain or loss Cancer - 20668451 WHAMMP3 chr15 23133488 23235221 Gain or loss Lung cancer - 20668451 WHAMMP3 chr15 23133488 23235221 Gain or loss Ovarian cancer - 20668451 WHAMMP3 chr15 23133488 23235221 Gain or loss Pancreas cancer - 20668451 WHAMMP3 chr15 23133488 23235221 Gain or loss Prostate cancer - 20668451 WHAMMP3 chr15 23133489 23204888 Copy number Autism exome sequencing 22495311 WHAMMP3 chr15 23133489 23235221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WHAMMP3 chr15 23133489 23235221 Gain and loss Pancreatic cancer SNP array 17952125 WHAMMP3 chr15 23133489 23235221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WHAMMP3 chr15 23133513 23178075 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 NOT_FOUND chr15 23138396 23139396 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr15 23139455 24534943 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC653061,MAGEL2,MIR4508,MKRN3,NDN,PWRN2,WHAMMP3 chr15 23139455 24900185 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC653061,MAGEL2,MIR4508,MKRN3,NDN,PWRN1,PWRN2,WHAMMP3 chr15 23173339 23203093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WHAMMP3 chr15 23182424 37936757 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf55,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAN1,FMN1,GABRA5,GABRB3,GABRG3,GJD2,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GREM1,HERC2,HERC2P10,HERC2P2,HERC2P7,HERC2P9,IPW,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC145845,LOC283710,LOC503519,LOC646278,LOC653061,LOC653075,LPCAT4,MAGEL2,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MKRN3,MTMR10,NDN,NDNL2,NOP10,NPAP1,OCA2,OTUD7A,PAR-SN,PAR1,PAR4,PAR5,PGBD4,PWRN1,PWRN2,RYR3,SCG5,SLC12A6,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TMCO5B,TRPM1,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,WHAMMP3,ZNF770 chr1 52320067 52524378 Gain and loss Pancreatic cancer SNP array 17952125 BTF3L4,KTI12,NRD1,RAB3B,TXNDC12 chr15 23235635 57303136 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1056K arrays 21546498 ACTC1,ADAL,ANKRD63,ANP32AP1,AP4E1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ARPP19,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CCPG1,CDAN1,CEP152,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CKMT1A,CKMT1B,COPS2,CSNK1A1P1,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM227B,FAM82A2,FAM98B,FAN1,FBN1,FGF7,FLJ10038,FLJ27352,FMN1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GJD2,GLDN,GNB5,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GREM1,HAUS2,HDC,HERC2,HERC2P10,HERC2P2,HERC2P7,HERC2P9,HMGN2P46,INO80,IPW,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LCMT2,LEO1,LOC100128714,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145783,LOC145845,LOC283710,LOC503519,LOC645212,LOC646278,LOC653061,LOC653075,LPCAT4,LRRC57,LTK,LYSMD2,MAGEL2,MAP1A,MAPK6,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1266,MIR1282,MIR147B,MIR211,MIR3942,MIR4310,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4712,MIR4713,MIR4715,MIR4716,MIR626,MIR627,MIR628,MKRN3,MNS1,MRPL42P5,MTMR10,MYEF2,MYO5A,MYO5C,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NOP10,NPAP1,NUSAP1,OCA2,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PAR-SN,PAR1,PAR4,PAR5,PATL2,PDIA3,PGBD4,PHGR1,PIGB,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,PRTG,PWRN1,PWRN2,PYGO1,RAB27A,RAD51,RASGRP1,RFX7,RHOV,RNU6-28,RPAP1,RPUSD2,RSL24D1,RTF1,RYR3,SCG3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SORD,SPATA5L1,SPG11,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,THBS1,TJP1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM1,TRPM7,TTBK2,TUBGCP4,TYRO3,UBE3A,UBR1,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP50,USP8,VPS18,VPS39,WDR72,WDR76,WHAMMP1,WHAMMP2,ZFP106,ZFYVE19,ZNF280D,ZNF770,ZSCAN29 chr1 52327797 52328112 Gain and loss Pancreatic cancer SNP array 17952125 NRD1 chr15 23300000 100338915 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8E,GOLGA8F,GOLGA8G,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NGRN,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 23300000 25700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GOLGA8E,HERC2P2,HERC2P7,IPW,LOC653061,MAGEL2,MIR4508,MKRN3,NDN,NPAP1,PAR-SN,PAR1,PAR4,PAR5,PWRN1,PWRN2,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,UBE3A chr15 23300000 25700000 Copy number Normal - 21701786 GOLGA8E,HERC2P2,HERC2P7,IPW,LOC653061,MAGEL2,MIR4508,MKRN3,NDN,NPAP1,PAR-SN,PAR1,PAR4,PAR5,PWRN1,PWRN2,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,UBE3A chr15 23300000 25700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GOLGA8E,HERC2P2,HERC2P7,IPW,LOC653061,MAGEL2,MIR4508,MKRN3,NDN,NPAP1,PAR-SN,PAR1,PAR4,PAR5,PWRN1,PWRN2,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,UBE3A chr15 23300000 25700000 Loss Cancer array-based techniques 21183584 GOLGA8E,HERC2P2,HERC2P7,IPW,LOC653061,MAGEL2,MIR4508,MKRN3,NDN,NPAP1,PAR-SN,PAR1,PAR4,PAR5,PWRN1,PWRN2,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,UBE3A chr15 23300000 28000000 Duplication Intellectual disability - 22045946 ATP10A,GABRA5,GABRB3,GABRG3,GOLGA8E,HERC2P2,HERC2P7,IPW,LOC100128714,LOC503519,LOC653061,MAGEL2,MIR4508,MIR4715,MKRN3,NDN,NPAP1,PAR-SN,PAR1,PAR4,PAR5,PWRN1,PWRN2,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,UBE3A chr1 52332996 52333096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRD1 chr1 52333212 52365567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRD1 chr15 23377209 23377363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC2P2 chr15 23464001 23663000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC653061 chr15 23474952 23659442 Copy number Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 LOC653061 chr15 23474952 23661412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC653061 chr15 23482489 23483473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 23482489 23483487 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 23483812 23483877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 23534748 23534854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 23588168 23614127 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 LOC653061 chr15 23604165 23625311 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 LOC653061 chr15 23604165 23655335 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 LOC653061 chr15 23611756 23611756 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC653061 chr15 23614223 23614307 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23614223 23614308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 23614223 23614310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 23680400 23689055 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 23698600 23849360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4508,MKRN3 chr15 23746297 23761730 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 23805180 23805314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 23805182 23805314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 52380634 52584946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTF3L4,KTI12,RAB3B,TXNDC12 chr1 52380634 52584946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTF3L4,KTI12,RAB3B,TXNDC12 chr1 52388364 52388677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB3B chr1 52388364 52388679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB3B chr15 23889345 23889445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGEL2 chr1 52398530 52398862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB3B chr15 23985488 24185809 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 NOT_FOUND chr1 52400446 52401286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB3B chr15 24098225 24098333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 24103719 24103798 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 52414178 52414217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB3B chr1 52418106 52418809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB3B chr1 52428175 52428568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB3B chr15 24300266 24303505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 24304980 24305039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 24305345 24450281 Duplication Normal Affymetrix 6.0 microarrays 20967226 PWRN2 chr1 52431314 52431875 Gain and loss Pancreatic cancer SNP array 17952125 RAB3B chr15 24339786 24767329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PWRN2 chr15 24339786 24767329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PWRN2 chr15 24342560 24570020 Gain and loss Pancreatic cancer SNP array 17952125 PWRN2 chr15 24354083 53834886 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ACTC1,ADAL,ANKRD63,ANP32AP1,AP4E1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ARPP19,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CEP152,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CKMT1A,CKMT1B,COPS2,CSNK1A1P1,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM227B,FAM82A2,FAM98B,FAN1,FBN1,FGF7,FLJ10038,FMN1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GJD2,GLDN,GNB5,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8F,GOLGA8G,GPR176,GREM1,HAUS2,HDC,HERC2,HERC2P10,HERC2P9,HMGN2P46,INO80,IPW,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LCMT2,LEO1,LOC100128714,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145845,LOC283710,LOC503519,LOC645212,LOC646278,LOC653075,LPCAT4,LRRC57,LTK,LYSMD2,MAP1A,MAPK6,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1266,MIR1282,MIR147B,MIR211,MIR3942,MIR4310,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4712,MIR4713,MIR4715,MIR4716,MIR626,MIR627,MRPL42P5,MTMR10,MYEF2,MYO5A,MYO5C,NDNL2,NDUFAF1,NDUFAF4P1,NOP10,NPAP1,NUSAP1,OCA2,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PAR-SN,PAR1,PAR4,PAR5,PATL2,PDIA3,PGBD4,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,PWRN1,PWRN2,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,RYR3,SCG3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SORD,SPATA5L1,SPG11,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TJP1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM1,TRPM7,TTBK2,TUBGCP4,TYRO3,UBE3A,UBR1,ULK4P1,ULK4P2,ULK4P3,USP50,USP8,VPS18,VPS39,WDR72,WDR76,WHAMMP1,WHAMMP2,ZFP106,ZFYVE19,ZNF770,ZSCAN29 chr15 24429411 24553848 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 NOT_FOUND chr15 24495712 25948580 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP10A,IPW,NPAP1,PAR-SN,PAR1,PAR4,PAR5,PWRN1,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,UBE3A chr1 52451521 52451597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB3B chr1 52455653 52455732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB3B chr15 24562625 24579934 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr15 24572582 24572889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 24663151 24777095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 24663151 24777095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 24663151 24777097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 24740085 48726270 Loss Wilms tumour 250K Genotyping Arrays 21544195 ACTC1,ADAL,ANKRD63,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATP10A,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CKMT1A,CKMT1B,CSNK1A1P1,CTDSPL2,CTXN2,DISP2,DKFZP434L187,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EHD4,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM82A2,FAM98B,FAN1,FBN1,FMN1,FRMD5,FSIP1,GABRA5,GABRB3,GABRG3,GANC,GATM,GCHFR,GJD2,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8F,GOLGA8G,GPR176,GREM1,HAUS2,HERC2,HERC2P10,HERC2P9,HMGN2P46,INO80,IPW,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LCMT2,LOC100128714,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145845,LOC283710,LOC503519,LOC645212,LOC646278,LOC653075,LPCAT4,LRRC57,LTK,MAP1A,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1282,MIR147B,MIR211,MIR3942,MIR4310,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4715,MIR626,MIR627,MRPL42P5,MTMR10,MYEF2,NDNL2,NDUFAF1,NOP10,NPAP1,NUSAP1,OCA2,OIP5,OIP5-AS1,OTUD7A,PAK6,PAR-SN,PAR1,PAR4,PAR5,PATL2,PDIA3,PGBD4,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,PWRN1,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,RYR3,SCG5,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC28A2,SLC30A4,SNAP23,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TJP1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TP53BP1,TRIM69,TRPM1,TTBK2,TUBGCP4,TYRO3,UBE3A,UBR1,ULK4P1,ULK4P2,ULK4P3,VPS18,VPS39,WDR76,WHAMMP1,WHAMMP2,ZFP106,ZFYVE19,ZNF770,ZSCAN29 chr15 24796177 24796502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 24799262 25451729 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 IPW,NPAP1,PAR-SN,PAR1,PAR5,PWRN1,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-29,SNORD115-3,SNORD115-36,SNORD115-4,SNORD115-43,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF chr15 24799263 25451622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IPW,NPAP1,PAR-SN,PAR1,PAR5,PWRN1,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-29,SNORD115-3,SNORD115-36,SNORD115-4,SNORD115-43,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF chr15 24799263 25451622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IPW,NPAP1,PAR-SN,PAR1,PAR5,PWRN1,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-29,SNORD115-3,SNORD115-36,SNORD115-4,SNORD115-43,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF chr15 24799429 25451622 Gain and loss Pancreatic cancer SNP array 17952125 IPW,NPAP1,PAR-SN,PAR1,PAR5,PWRN1,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-29,SNORD115-3,SNORD115-36,SNORD115-4,SNORD115-43,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF chr15 24807067 24811378 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PWRN1 chr15 24807652 24811378 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PWRN1 chr15 24810446 24811378 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PWRN1 chr15 24902070 24902170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 52490325 52491033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TXNDC12 chr1 52491881 52492442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TXNDC12 chr15 24956995 24957027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 24985949 24992529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 24985952 24992393 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 52501757 52502158 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TXNDC12 chr15 25035982 25036528 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 25035982 25036528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 25060215 25335769 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PAR-SN,PAR5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF chr15 25065989 25066092 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 25065990 25066093 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr1 5250771 5251136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 25108210 25108328 Gain and loss Pancreatic cancer SNP array 17952125 SNRPN chr15 25108211 25108329 Gain and loss Pancreatic cancer SNP array 17952125 SNRPN chr15 25108211 25108329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRPN chr15 25132594 25138593 Loss Normal TaqMan assays 20972442 SNRPN chr15 25144772 25144827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRPN chr15 25220395 25220495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRPN,SNURF chr15 25230707 25230807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAR5 chr1 52527279 52527326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTF3L4 chr15 25301194 25457050 Gain Normal 244K array 17666407 IPW,PAR1,PAR4,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-29,SNORD115-3,SNORD115-36,SNORD115-4,SNORD115-43,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9 chr1 52530226 52538723 Gain and loss Pancreatic cancer SNP array 17952125 BTF3L4 chr15 25306879 25306977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25320932 25321032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 5253585 5253683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 5254032 5254132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25417401 25417433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25430180 25948580 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP10A,PAR4,SNORD109A,SNORD109B,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-9,UBE3A chr15 25431037 25431076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25437916 25437984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25459982 25460061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNORD115-15,SNORD115-21 chr15 25468853 25468953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNORD115-15,SNORD115-21 chr15 25482555 25482625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25500504 25535399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNORD109A,SNORD109B,SNORD115-45,SNORD115-47,SNORD115-48 chr1 52550523 52582152 Gain and loss Pancreatic cancer SNP array 17952125 BTF3L4 chr15 25538581 25538681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25555160 27203522 LOH Normal High-resolution SNP genotyping 21211785 ATP10A,GABRA5,GABRB3,LOC100128714,LOC503519,MIR4715,UBE3A chr15 25557501 26013000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP10A,UBE3A chr15 25582395 25684175 Amplification Autism Affymetrix Mapping 10K GeneChip 16446308 UBE3A chr15 25584526 25607437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UBE3A chr15 25591173 25601389 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE3A chr15 25592461 25601462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBE3A chr15 25593080 25603400 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE3A chr15 25593080 25606503 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE3A chr15 25597570 25608098 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE3A chr15 25623399 26803222 LOH Normal High-resolution SNP genotyping 21211785 ATP10A,GABRB3,LOC100128714,LOC503519,MIR4715,UBE3A chr15 25625812 25625911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE3A chr15 25660269 26844334 LOH Normal High-resolution SNP genotyping 21211785 ATP10A,GABRB3,LOC100128714,LOC503519,MIR4715,UBE3A chr15 25670826 25671139 Gain and loss Pancreatic cancer SNP array 17952125 UBE3A chr15 25670826 25671139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE3A chr15 25673620 26018061 Gain and loss Pancreatic cancer SNP array 17952125 ATP10A,UBE3A chr15 25673622 26018053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP10A,UBE3A chr15 25673622 26018053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP10A,UBE3A chr15 25673627 31975487 Loss Prostate cancer Array CGH 18632612 APBA2,ARHGAP11B,ATP10A,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P10,HERC2P9,KLF13,LOC100128714,LOC100288637,LOC100289656,LOC283710,LOC503519,LOC646278,LOC653075,MIR211,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MTMR10,NDNL2,OCA2,OTUD7A,TJP1,TRPM1,UBE3A,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 25680861 25680955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE3A chr15 25697533 25717399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 25700000 28000000 Copy number Normal - 21701786 ATP10A,GABRA5,GABRB3,GABRG3,LOC100128714,LOC503519,MIR4715 chr15 25700000 28100000 Amplification head and neck squamous cell carcinoma CGH 17671120 ATP10A,GABRA5,GABRB3,GABRG3,LOC100128714,LOC503519,MIR4715,OCA2 chr15 25700000 28100000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ATP10A,GABRA5,GABRB3,GABRG3,LOC100128714,LOC503519,MIR4715,OCA2 chr15 25700000 28100000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ATP10A,GABRA5,GABRB3,GABRG3,LOC100128714,LOC503519,MIR4715,OCA2 chr15 25700000 29000000 Duplication Intellectual disability - 22045946 ATP10A,GABRA5,GABRB3,GABRG3,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100128714,LOC503519,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,OCA2,WHAMMP2 chr15 25700000 31400000 Deletion Angelman syndrome References 18787571 APBA2,ARHGAP11B,ATP10A,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P10,HERC2P9,LOC100128714,LOC100288637,LOC100289656,LOC503519,LOC646278,LOC653075,MIR211,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MTMR10,NDNL2,OCA2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 25700000 31400000 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 APBA2,ARHGAP11B,ATP10A,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GABRA5,GABRB3,GABRG3,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P10,HERC2P9,LOC100128714,LOC100288637,LOC100289656,LOC503519,LOC646278,LOC653075,MIR211,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MTMR10,NDNL2,OCA2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 25708816 25708880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 25716830 25716930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25726455 25727455 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 25814447 25815323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 52582257 52595871 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 25834989 25835089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25838807 25872189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 25853346 27237294 LOH Normal High-resolution SNP genotyping 21211785 ATP10A,GABRA5,GABRB3,GABRG3,LOC100128714,LOC503519,MIR4715 chr15 25854535 26853289 LOH Normal High-resolution SNP genotyping 21211785 ATP10A,GABRB3,LOC100128714,LOC503519,MIR4715 chr15 25855260 25855441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25875294 25875394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25876147 25876238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 52588855 52604452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 52588855 52604452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 25901421 25901505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 25910101 25911101 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 25911444 25912444 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 25911491 25911791 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 25945483 26701133 LOH Normal High-resolution SNP genotyping 21211785 ATP10A,LOC100128714,LOC503519,MIR4715 chr15 25948539 26860916 LOH Normal High-resolution SNP genotyping 21211785 ATP10A,GABRB3,LOC100128714,LOC503519,MIR4715 chr1 52595501 52599500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 25955199 25955299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP10A chr15 25958549 26169609 Gain Normal BAC array 16365383 ATP10A,LOC100128714,MIR4715 chr15 25999292 27203522 LOH Normal High-resolution SNP genotyping 21211785 ATP10A,GABRA5,GABRB3,LOC100128714,LOC503519,MIR4715 chr15 26013001 26026500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP10A chr1 52601628 52730687 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE9 chr15 26026501 27182500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP10A,GABRA5,GABRB3,LOC100128714,LOC503519,MIR4715 chr15 26029781 26240890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP10A,LOC100128714,MIR4715 chr15 26029781 26240890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP10A,LOC100128714,MIR4715 chr15 26029785 26240845 Gain and loss Pancreatic cancer SNP array 17952125 ATP10A,LOC100128714,MIR4715 chr15 26065070 26065104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP10A chr1 52606935 52607499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26086062 26254807 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP10A,LOC100128714,MIR4715 chr15 26086062 26378746 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP10A,LOC100128714,LOC503519,MIR4715 chr15 26086062 26378746 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP10A,LOC100128714,LOC503519,MIR4715 chr15 26086062 26641134 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP10A,LOC100128714,LOC503519,MIR4715 chr15 26086062 26641134 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP10A,LOC100128714,LOC503519,MIR4715 chr15 26086062 26763830 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP10A,LOC100128714,LOC503519,MIR4715 chr15 26086062 26763830 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP10A,LOC100128714,LOC503519,MIR4715 chr1 52611088 52642719 Copy number Non-syndromic sensorineural hearing loss Fugene6, Lipofectamine 2000 19197067 ZFYVE9 chr1 52611090 52642719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE9 chr1 52611090 52642719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE9 chr1 52613101 52613101 Copy number Prostate cancer Illumina GA II sequencer 21307934 ZFYVE9 chr15 26141231 26141415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 26176125 26176184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100128714 chr15 26199529 26641134 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100128714,LOC503519 chr15 26199529 26641134 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100128714,LOC503519 chr15 26199529 26763830 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100128714,LOC503519 chr15 26205159 26874495 Substitutions and indels small cell lung cancer array-CGH 20016488 GABRB3,LOC100128714,LOC503519 chr15 26208003 26720094 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC100128714,LOC503519 chr15 26233151 26236568 Gain Normal BAC array 16365383 LOC100128714 chr15 26234434 26234511 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128714 chr15 26297405 26310759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128714 chr15 26297405 26310759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128714 chr15 26304384 26308209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 26305946 26306224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26306013 26306171 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 26306013 26306171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26307110 26307192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26321989 26323769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 26354812 26354897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 26364997 27222402 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 GABRA5,GABRB3,GABRG3,LOC503519 chr15 26372216 26372316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC503519 chr1 5263920 5264072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 5263920 5264123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 26408420 26408507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 52642807 52656579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE9 chr1 52642807 52656579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE9 chr15 26495524 26498941 Gain Normal BAC array 16365383 NOT_FOUND chr15 26538095 26552597 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 26550817 26552597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 26563798 26577158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26563798 26577158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26566355 26570180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 26567372 26567454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26568340 26568618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26568393 26568551 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 26568393 26568551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26599827 26763830 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 52661538 52791331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE9 chr1 52661538 52791331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE9 chr15 26657732 26657812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 26677450 26729449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26677450 26729449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26717542 26717642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 26727525 26727615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 26730000 26910000 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 GABRB3 chr15 26738875 26738975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 26745821 30494518 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 APBA2,DKFZP434L187,FAM189A1,GABRA5,GABRB3,GABRG3,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,OCA2,TJP1,ULK4P3,WHAMMP2 chr15 26746749 26746831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26747710 26747988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26747754 26747921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 26747754 26747921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26748946 26756608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26748946 26756608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 26755154 26755254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 26759045 26759115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 26762141 30436163 Loss Autism Illumina 550K(Glessner et al. 2009) 20531469 APBA2,FAM189A1,GABRA5,GABRB3,GABRG3,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,OCA2,TJP1,ULK4P3,WHAMMP2 chr15 26807630 26808337 Gain and loss Pancreatic cancer SNP array 17952125 GABRB3 chr15 26808083 27045719 Duplication Normal Affymetrix 6.0 microarrays 20967226 GABRB3 chr15 26819408 26820408 Gain Renal cell carcinoma References 21215367 GABRB3 chr15 26833386 26833673 Gain and loss Pancreatic cancer SNP array 17952125 GABRB3 chr15 26833386 26833673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABRB3 chr15 26843832 26843932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRB3 chr15 26872517 26872587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRB3 chr15 26872540 26872698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRB3 chr1 52687874 52687967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE9 chr15 26886954 26887049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRB3 chr15 26887815 28157206 Gain Autism qPCR, Agilent1M, Illumina1M 20531469 GABRA5,GABRB3,GABRG3,OCA2 chr15 26944455 27013443 Substitutions and indels small cell lung cancer array-CGH 20016488 GABRB3 chr15 26965726 26965816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRB3 chr15 26998850 27117346 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GABRA5,GABRB3 chr15 27000000 28400000 Duplication Schizophrenia BAC array CGH 17989066 GABRA5,GABRB3,GABRG3,HERC2,OCA2 chr15 27000000 28400000 Gain Schizophrenia BAC array CGH 17989066 GABRA5,GABRB3,GABRG3,HERC2,OCA2 chr15 27001131 27197808 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GABRA5,GABRB3 chr15 27001141 27234776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GABRA5,GABRB3,GABRG3 chr15 27001141 27234776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABRA5,GABRB3,GABRG3 chr15 27001145 27197807 Gain and loss Pancreatic cancer SNP array 17952125 GABRA5,GABRB3 chr15 27013639 27013739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRB3 chr15 27018387 28146423 Substitutions and indels small cell lung cancer array-CGH 20016488 GABRA5,GABRB3,GABRG3,OCA2 chr15 27069185 27069274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 27107945 27152397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABRA5 chr15 27166519 27166579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRA5 chr15 27178248 27178320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRA5 chr15 27182501 27216000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GABRA5 chr15 27197255 27779761 Deletion Normal Arbitrated Peel-off 21527027 GABRG3 chr15 27197255 27779761 Deletion Normal GeneGISTIC 21527027 GABRG3 chr15 27197255 27779761 Deletion Normal Standard peel-off 21527027 GABRG3 chr15 27197871 27219056 Deletion Normal Standard GISTIC 21527027 GABRG3 chr15 27198705 27198805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 27198767 27199188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 27198775 27199196 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 27199749 27276047 Gain and loss Pancreatic cancer SNP array 17952125 GABRG3 chr15 27199749 27276047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABRG3 chr15 27247496 27247596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27319660 27319760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27337549 27337625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27347645 27349325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GABRG3 chr15 27347645 27349325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABRG3 chr15 27348287 27349201 Gain and loss Pancreatic cancer SNP array 17952125 GABRG3 chr15 27359655 28801860 Deletion 15q13.3 microdeletion syndrome microarray-based comparative genomic hybridization (aCGH),BAC microarray,Oligonucleotide-based aCGH,Fluorescence in situ hybridization(FISH) 21248749 GABRG3,GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 27403952 27404052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27420999 27421059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27446531 27446631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27450911 27455894 Loss Normal 244K array 17666407 GABRG3 chr15 27452970 27453060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27487169 27487269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27622489 27652292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABRG3 chr15 27622811 27622891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27626519 27643087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABRG3 chr15 27634161 27642464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABRG3 chr15 27634291 27643223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABRG3 chr15 27635416 27641157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABRG3 chr15 27636258 27642922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABRG3 chr15 27638443 27646553 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABRG3 chr15 27654135 27703958 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GABRG3 chr15 27688002 27690442 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GABRG3 chr15 27688479 27690405 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GABRG3 chr15 27688623 27690198 Loss Normal 244K array 17666407 GABRG3 chr15 27692066 27693770 Gain and loss Pancreatic cancer SNP array 17952125 GABRG3 chr15 27692066 27693770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABRG3 chr15 27692974 27693075 Gain and loss Pancreatic cancer SNP array 17952125 GABRG3 chr15 27692974 27693075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABRG3 chr15 27704467 27704566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr1 52771 702396 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 52771 708514 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 52771 711153 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 52771 730720 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 52771 742429 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr1 52771 758644 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5 chr15 27765571 27765794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27765785 27765989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GABRG3 chr15 27778863 27901998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 27778863 27901998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 27779656 27901043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 52780065 52786743 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE9 chr15 27810108 27811302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 27810108 27811302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 27810209 27810481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 27851664 27853135 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 27870556 27871559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 27872716 27872883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 27905960 27906021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 27907829 27908829 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 27915504 27915804 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 27938232 27939232 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 27946388 27947388 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 27954928 27955228 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 27982498 28451484 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 HERC2,OCA2 chr15 27999645 28000645 Gain Renal cell carcinoma References 21215367 OCA2 chr15 28000000 100338915 Loss Gastrointestinal stromal cancer array CGH 16982739 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8F,GOLGA8G,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645212,LOC645752,LOC646278,LOC646938,LOC648809,LOC653075,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NGRN,NMB,NOP10,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PAQR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 28000000 29000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GOLGA8F,GOLGA8G,HERC2,HERC2P9,MIR4509-1,MIR4509-2,MIR4509-3,OCA2,WHAMMP2 chr15 28000000 31400000 Microduplications Neuropsychiatric disorder CGH 20506139 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P10,HERC2P9,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MIR4509-1,MIR4509-2,MIR4509-3,MTMR10,NDNL2,OCA2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr1 52802700 52802844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE9 chr15 28070248 28073164 Loss Normal 244K array 17666407 OCA2 chr15 28076447 28076650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OCA2 chr15 28080236 28645778 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,OCA2 chr15 28080236 28734907 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28080236 28805754 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28080236 28805754 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28080236 28939783 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,HERC2P9,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28095380 28645778 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,OCA2 chr15 28095380 28734907 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28095380 28805754 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28100000 30300000 Deletion Mental retardation array CGH 17124404 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,OCA2,TJP1,WHAMMP2 chr15 28100000 40100000 Copy number Autism References 19204725 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAM98B,FAN1,FMN1,FSIP1,GJD2,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8F,GOLGA8G,GPR176,GREM1,HERC2,HERC2P10,HERC2P9,KLF13,LOC100288637,LOC100289656,LOC145845,LOC283710,LOC646278,LOC653075,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MTMR10,NDNL2,NOP10,OCA2,OTUD7A,PGBD4,RASGRP1,RYR3,SCG5,SLC12A6,SPRED1,THBS1,TJP1,TMCO5A,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,ZNF770 chr15 28100000 40100000 Copy number Schizophrenia References 19204725 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAM98B,FAN1,FMN1,FSIP1,GJD2,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8F,GOLGA8G,GPR176,GREM1,HERC2,HERC2P10,HERC2P9,KLF13,LOC100288637,LOC100289656,LOC145845,LOC283710,LOC646278,LOC653075,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MTMR10,NDNL2,NOP10,OCA2,OTUD7A,PGBD4,RASGRP1,RYR3,SCG5,SLC12A6,SPRED1,THBS1,TJP1,TMCO5A,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,ZNF770 chr15 28100000 40100000 Deletion Schizophrenia - 19149910 ACTC1,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRFAM7A,CHRM5,CHRNA7,CSNK1A1P1,DKFZP434L187,EMC4,EMC7,FAM189A1,FAM98B,FAN1,FMN1,FSIP1,GJD2,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8F,GOLGA8G,GPR176,GREM1,HERC2,HERC2P10,HERC2P9,KLF13,LOC100288637,LOC100289656,LOC145845,LOC283710,LOC646278,LOC653075,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR211,MIR3942,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MTMR10,NDNL2,NOP10,OCA2,OTUD7A,PGBD4,RASGRP1,RYR3,SCG5,SLC12A6,SPRED1,THBS1,TJP1,TMCO5A,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,WHAMMP2,ZNF770 chr15 28100000 59100000 Loss Prostate cancer Array CGH 16573809 ACTC1,ADAL,ADAM10,ALDH1A2,ANKRD63,ANP32AP1,AP4E1,APBA2,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARPP19,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CKMT1A,CKMT1B,COPS2,CSNK1A1P1,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM227B,FAM63B,FAM82A2,FAM98B,FAN1,FBN1,FGF7,FLJ10038,FLJ27352,FMN1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GCOM1,GJD2,GLDN,GNB5,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8F,GOLGA8G,GPR176,GREM1,HAUS2,HDC,HERC2,HERC2P10,HERC2P9,HMGN2P46,HSP90AB4P,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LCMT2,LEO1,LIPC,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145783,LOC145845,LOC283663,LOC283710,LOC645212,LOC646278,LOC653075,LPCAT4,LRRC57,LTK,LYSMD2,MAP1A,MAPK6,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1266,MIR1282,MIR147B,MIR211,MIR3942,MIR4310,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4712,MIR4713,MIR4716,MIR626,MIR627,MIR628,MNS1,MRPL42P5,MTMR10,MYEF2,MYO5A,MYO5C,MYZAP,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NOP10,NUSAP1,OCA2,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PATL2,PDIA3,PGBD4,PHGR1,PIGB,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,POLR2M,PPIP5K1,PPP1R14D,PRTG,PYGO1,RAB27A,RAD51,RASGRP1,RFX7,RHOV,RNU6-28,RPAP1,RPUSD2,RSL24D1,RTF1,RYR3,SCG3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,THBS1,TJP1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM1,TRPM7,TTBK2,TUBGCP4,TYRO3,UBR1,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP50,USP8,VPS18,VPS39,WDR72,WDR76,WHAMMP1,WHAMMP2,ZFP106,ZFYVE19,ZNF280D,ZNF770,ZSCAN29 chr15 28103996 28104056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OCA2 chr1 52811263 52834760 Gain and loss Pancreatic cancer SNP array 17952125 CC2D1B,ZFYVE9 chr1 52811374 52812076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE9 chr15 28123929 28124790 Gain and loss Pancreatic cancer SNP array 17952125 OCA2 chr15 28123937 28124790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28145237 29140477 LOH Normal High-resolution SNP genotyping 21211785 GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,OCA2,WHAMMP2 chr15 28151847 28635495 Substitutions and indels small cell lung cancer array-CGH 20016488 GOLGA8F,GOLGA8G,HERC2,OCA2 chr15 28157324 49528292 Deletion Normal Arbitrated Peel-off 21527027 ACTC1,ADAL,ANKRD63,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CEP152,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CKMT1A,CKMT1B,COPS2,CSNK1A1P1,CTDSPL2,CTXN2,DISP2,DKFZP434L187,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM82A2,FAM98B,FAN1,FBN1,FMN1,FRMD5,FSIP1,GALK2,GANC,GATM,GCHFR,GJD2,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8F,GOLGA8G,GPR176,GREM1,HAUS2,HERC2,HERC2P10,HERC2P9,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LCMT2,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145845,LOC283710,LOC645212,LOC646278,LOC653075,LPCAT4,LRRC57,LTK,MAP1A,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1282,MIR147B,MIR211,MIR3942,MIR4310,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4716,MIR626,MIR627,MRPL42P5,MTMR10,MYEF2,NDNL2,NDUFAF1,NDUFAF4P1,NOP10,NUSAP1,OCA2,OIP5,OIP5-AS1,OTUD7A,PAK6,PATL2,PDIA3,PGBD4,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,RYR3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TJP1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TP53BP1,TRIM69,TRPM1,TTBK2,TUBGCP4,TYRO3,UBR1,ULK4P1,ULK4P2,ULK4P3,VPS18,VPS39,WDR76,WHAMMP1,WHAMMP2,ZFP106,ZFYVE19,ZNF770,ZSCAN29 chr15 28157840 28160085 Deletion Schizophrenia NimbleGen HD2 platform 21346763 OCA2 chr15 28162450 28694056 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28165501 28694500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28168397 30276525 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,OCA2,TJP1,WHAMMP2 chr15 28168397 30491740 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 APBA2,DKFZP434L187,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,OCA2,TJP1,ULK4P3,WHAMMP2 chr15 28168397 30498257 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 APBA2,DKFZP434L187,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,OCA2,TJP1,ULK4P3,WHAMMP2 chr15 28169339 28172994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28171146 28171424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28171213 28171380 Gain and loss Pancreatic cancer SNP array 17952125 OCA2 chr15 28171213 28171380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28171483 30701463 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 APBA2,CHRFAM7A,DKFZP434L187,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,OCA2,TJP1,ULK4P3,WHAMMP2 chr15 28172304 28172386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28173691 28354220 Duplication Normal Affymetrix 6.0 microarrays 20967226 OCA2 chr15 28173691 28609038 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2,OCA2 chr15 28173703 28231568 Gain Normal Birdsuite, version 1.5.2 22087296 OCA2 chr15 28180480 28232903 Gain and loss Pancreatic cancer SNP array 17952125 OCA2 chr15 28187888 28881771 Loss Autism Illumina 550K(Glessner et al. 2009) 20531469 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28191693 28191825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28191693 28191826 Gain and loss Pancreatic cancer SNP array 17952125 OCA2 chr15 28193434 28211236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28195703 28195803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OCA2 chr15 28204155 28204245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OCA2 chr15 28221399 28221905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28223217 28223495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28223284 28223451 Gain and loss Pancreatic cancer SNP array 17952125 OCA2 chr15 28223284 28223451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28224372 28224454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28227867 28475484 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HERC2,OCA2 chr15 28231556 28350050 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 OCA2 chr15 28231556 28455864 Duplication Normal Affymetrix 6.0 microarrays 20967226 HERC2,OCA2 chr15 28231556 28567943 Duplication Normal Affymetrix 6.0 microarrays 20967226 HERC2,OCA2 chr15 28231568 28235887 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OCA2 chr15 28233408 28233605 Gain and loss Pancreatic cancer SNP array 17952125 OCA2 chr15 28235887 28278679 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OCA2 chr15 28255272 28645778 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,OCA2 chr15 28255272 28734907 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28255272 28805754 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr1 52825912 52825973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CC2D1B chr15 28275531 28291763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28278679 28289587 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OCA2 chr15 28278801 28294033 Gain and loss Pancreatic cancer SNP array 17952125 OCA2 chr15 28279020 28512557 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2,OCA2 chr15 28279020 28557286 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2,OCA2 chr15 28279020 28734907 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28279020 28734907 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3,OCA2 chr15 28280641 28609063 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 HERC2,OCA2 chr15 28280641 30702885 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 APBA2,CHRFAM7A,DKFZP434L187,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,OCA2,TJP1,ULK4P3,WHAMMP2 chr15 28289062 28290120 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OCA2 chr15 28289587 28294730 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OCA2 chr15 28294730 28341186 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OCA2 chr15 28332203 28439513 Deletion Normal Affymetrix 6.0 microarrays 20967226 HERC2,OCA2 chr15 28333897 28334003 Gain and loss Pancreatic cancer SNP array 17952125 OCA2 chr15 28333897 28334003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OCA2 chr15 28341186 28348859 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OCA2 chr15 28348859 28377088 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HERC2 chr15 28349558 28895099 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28354182 28609038 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 HERC2 chr15 28360590 28712885 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28360590 28723577 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28373452 28374377 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HERC2 chr15 28377088 28377089 Loss Normal Birdsuite, version 1.5.2 22087296 HERC2 chr15 28377089 28536721 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 HERC2 chr15 28377089 28536721 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 HERC2 chr15 28377089 28536721 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HERC2 chr15 28377089 28536721 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HERC2 chr1 52838036 53001202 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ORC1,PRPF38A,ZCCHC11 chr15 28388216 29754401 LOH Normal High-resolution SNP genotyping 21211785 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,WHAMMP2 chr15 28393128 28864940 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 chr1 52840632 52847310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ORC1 chr1 52840632 52847310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ORC1 chr15 28410379 28410457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HERC2 chr15 28428290 28428370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HERC2 chr15 28430003 28430103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HERC2 chr15 28430085 28430221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HERC2 chr15 28430085 28430334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HERC2 chr15 28430376 28609038 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2 chr15 28434931 28435033 Gain and loss Pancreatic cancer SNP array 17952125 HERC2 chr15 28434931 28435034 Gain and loss Pancreatic cancer SNP array 17952125 HERC2 chr15 28440734 28473156 Copy number Normal Illumina Human610-Quad BeadChip 21660214 HERC2 chr15 28440734 28473156 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 HERC2 chr15 28440735 28473156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HERC2 chr15 28440735 28473156 Gain and loss Pancreatic cancer SNP array 17952125 HERC2 chr15 28440735 28473156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC2 chr15 28440938 28476208 Loss Autism 1M Ailent CGH whole-genome array 21865298 HERC2 chr15 28441169 30686850 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 APBA2,CHRFAM7A,DKFZP434L187,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,ULK4P3,WHAMMP2 chr15 28446107 28906916 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GOLGA8F,GOLGA8G,HERC2,HERC2P9,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28461375 30436131 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,ULK4P3,WHAMMP2 chr15 28464453 28464586 Gain and loss Pancreatic cancer SNP array 17952125 HERC2 chr15 28483235 28486882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC2 chr15 28483235 28493693 Gain and loss Pancreatic cancer SNP array 17952125 HERC2 chr15 28483844 28483926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC2 chr15 28484850 28485017 Gain and loss Pancreatic cancer SNP array 17952125 HERC2 chr15 28484850 28485017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC2 chr15 28518799 28792079 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28536721 28583081 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HERC2 chr15 28542436 28805754 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28566871 28768325 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28583081 28595234 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 28586867 28587534 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28595222 28768325 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GOLGA8F,GOLGA8G,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28595222 30326817 Microdeletions Autism high-density single nucleotide polymorphism arrays 19843651 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28595222 30326817 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28595222 30326817 Microdeletions idiopathic generalized epilepsy high-density single nucleotide polymorphism arrays 19843651 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28595222 30326817 Microdeletions Schizophrenia high-density single nucleotide polymorphism arrays 19843651 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28595234 28609050 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 28600411 28881079 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GOLGA8F,GOLGA8G,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28600411 28881079 Copy number loss Normal High-resolution SNP genotyping 21211785 GOLGA8F,GOLGA8G,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28605178 28939783 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GOLGA8F,GOLGA8G,HERC2P9,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28640214 28640381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28640214 28640381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28641305 28641387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 52864535 52876059 Gain and loss Pancreatic cancer SNP array 17952125 ORC1,PRPF38A chr15 28652438 28652562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28660679 28660811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28660679 28660812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28662420 28680210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4509-1,MIR4509-2,MIR4509-3 chr15 28688170 28700879 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 28690000 30300000 Copy number Cognitive impairment - 21505072 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28690363 28690869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28692208 28692486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28692275 28692442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28692275 28692442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28693366 28693448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28694501 29340500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APBA2,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,WHAMMP2 chr1 52869531 52869619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ORC1 chr15 28700000 30100000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28700000 30300000 Copy number Cognitive impairment - 21505072 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28700879 28707916 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 28705540 30436163 Loss Autism qPCR 20531469 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,LOC653075,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,ULK4P3,WHAMMP2 chr15 28705695 28765101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA8G,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28705695 28765101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA8G,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28706316 28719284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28707904 28886906 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GOLGA8F,GOLGA8G,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28707916 28733598 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 28710963 30315399 Substitutions and indels small cell lung cancer array-CGH 20016488 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28712984 30303265 Gain Autism Exome sequencing and CGH 22495309 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr1 52871654 52907925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPF38A,ZCCHC11 chr1 52871654 52907925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF38A,ZCCHC11 chr15 28719165 28758851 Loss Normal 244K array 17666407 MIR4509-1,MIR4509-2,MIR4509-3 chr15 28720000 30300000 Copy number Schizophrenia - 20388499 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28722452 28722548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28722452 28722548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28723577 28853522 Copy number Normal - 20703242 GOLGA8F,GOLGA8G,MIR4509-1,MIR4509-2,MIR4509-3 chr15 28723577 30231488 Gain Autism - 20841430 APBA2,FAM189A1,GOLGA6L7P,GOLGA8F,GOLGA8G,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,NDNL2,TJP1,WHAMMP2 chr15 28733598 28738293 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MIR4509-1,MIR4509-2,MIR4509-3 chr15 2873825 30215571 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 APBA2,ATP10A,CHEK2P2,CXADRP2,CYFIP1,FAM189A1,GABRA5,GABRB3,GABRG3,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,HERC2,HERC2P2,HERC2P3,HERC2P7,HERC2P9,IPW,LOC100128714,LOC100289656,LOC283683,LOC348120,LOC503519,LOC646214,LOC646278,LOC653061,LOC727924,MAGEL2,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4715,MKRN3,NBEAP1,NDN,NDNL2,NF1P2,NIPA1,NIPA2,NPAP1,OCA2,OR4M2,OR4N3P,OR4N4,PAR-SN,PAR1,PAR4,PAR5,POTEB,PWRN1,PWRN2,REREP3,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD64,SNRPN,SNURF,TJP1,TUBGCP5,UBE3A,WHAMMP2,WHAMMP3 chr15 28738293 28738294 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 28738294 28768337 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GOLGA8F,GOLGA8G chr15 28748867 28782546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GOLGA8F,GOLGA8G chr15 28753245 28753336 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28753245 28753338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28768337 28871623 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GOLGA8F,GOLGA8G chr1 52878 53750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28795810 28848794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28795810 28848794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28871623 28874625 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 28874625 28875769 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 28876855 28881224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28876855 28881227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28876855 28881227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28879644 28879922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28879711 28879878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 28879711 28879878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28880801 28880883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 28881608 28991107 Deletion Schizophrenia NimbleGen HD2 platform 21346763 HERC2P9,WHAMMP2 chr1 52888672 52888746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 52888999 52889098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZCCHC11 chr15 28915746 29457393 Gain and loss Pancreatic cancer SNP array 17952125 APBA2,FAM189A1,GOLGA6L7P,HERC2P9,LOC100289656,LOC646278,WHAMMP2 chr1 52892092 52892387 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC11 chr15 28970616 29258315 Loss Normal 244K array 17666407 APBA2,GOLGA6L7P,LOC100289656,LOC646278,WHAMMP2 chr15 28983399 29022600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WHAMMP2 chr15 28983399 29022600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WHAMMP2 chr15 28983418 29022600 Gain and loss Pancreatic cancer SNP array 17952125 WHAMMP2 chr15 28996817 28997817 Loss Renal cell carcinoma References 21215367 WHAMMP2 chr15 28997353 28998353 Loss Cancer Human 24 color M-FISH 21215367 WHAMMP2 chr15 28997353 28998353 Loss Renal cell carcinoma References 21215367 WHAMMP2 chr15 29000000 31400000 Copy number Epilepsy References 22499536 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Copy number Schizophrenia from references 18923514 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Copy number Schizophrenia References 22499536 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion Autism ref 20970697 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion Epilepsy ref 20970697 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion Mental retardation References 19951919 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion or duplication Mental retardation References 21956041 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion Schizophrenia - 20587603 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion Schizophrenia ref 20970697 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion Schizophrenia References 20553308 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion Schizophrenia References 21956041 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Duplication Autism ref 20970697 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Duplication Mental retardation \N 21062444 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Duplication Schizophrenia ref 20970697 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Gain Autism Array CGH 21269290 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Gain Colorectal cancer Copy Number Analyzer for Affymertix GeneChip Mapping arrays v2.0,Affymetrix Genotyping Console v2.1 21128281 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Gain Intellectual disability Array CGH 21269290 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Gain Schizophrenia Array CGH 21269290 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Autism Array CGH 22094647 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Developmental delay Array-CGH 19898479 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion dysmorphic features Array CGH 19289393 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Epilepsy Array CGH 19289393 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Epilepsy FISH and MLPA 20643615 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion idiopathic epilepsies References 19341504 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion idiopathic generalized epilepsy Affymetrix Genome-Wide Human SNP array 6.0 19136953 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion idiopathic generalized epilepsy Array CGH 19592580 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Mental retardation Array-CGH 18278044 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Mental retardation Array CGH 19289393 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Mental retardation Array-CGH 19898479 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Mental retardation array-CGH 20152051 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Prader-willi syndrome References 18854863 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microdeletion Schizophrenia Array CGH 19289393 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 31400000 Microduplication Schizophrenia References 19855392 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAN1,GOLGA6L7P,HERC2P10,LOC100288637,LOC100289656,LOC646278,LOC653075,MIR211,MTMR10,NDNL2,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP2 chr15 29000000 47600000 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ACTC1,ADAL,ANKRD63,ANP32AP1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CKMT1A,CKMT1B,CSNK1A1P1,CTDSPL2,DISP2,DKFZP434L187,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,EHD4,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM82A2,FAM98B,FAN1,FMN1,FRMD5,FSIP1,GANC,GATM,GCHFR,GJD2,GOLGA6L7P,GOLGA8A,GOLGA8B,GPR176,GREM1,HAUS2,HERC2P10,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LCMT2,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145845,LOC283710,LOC645212,LOC646278,LOC653075,LPCAT4,LRRC57,LTK,MAP1A,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1282,MIR147B,MIR211,MIR3942,MIR4310,MIR4510,MIR626,MIR627,MRPL42P5,MTMR10,NDNL2,NDUFAF1,NOP10,NUSAP1,OIP5,OIP5-AS1,OTUD7A,PAK6,PATL2,PDIA3,PGBD4,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,RYR3,SCG5,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC12A6,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TJP1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TP53BP1,TRIM69,TRPM1,TTBK2,TUBGCP4,TYRO3,UBR1,ULK4P1,ULK4P2,ULK4P3,VPS18,VPS39,WDR76,WHAMMP1,WHAMMP2,ZFP106,ZFYVE19,ZNF770,ZSCAN29 chr1 52900000 134452384 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABCA4,ABCD3,ACADM,ACOT11,ACTG1P4,ADAM30,ADORA3,AGL,AHCYL1,AK4,AK5,AKNAD1,AKR7A2P1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATG4C,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BSND,BTBD8,C1orf123,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf177,C1orf180,C1orf194,C1orf52,C1orf87,C1orf88,C8A,C8B,CACHD1,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CDCP2,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CPT2,CRYZ,CSDE1,CSF1,CTBS,CTH,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYR61,DAB1,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DEPDC1,DHCR24,DIO1,DIRAS3,DLEU2L,DMRTB1,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ECHDC2,EFCAB7,ELTD1,EMBP1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM151A,FAM159A,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FAM72B,FAM73A,FCGR1B,FGGY,FLJ27354,FLJ31662,FNBP1L,FNDC7,FOXD3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GLIS1,GLMN,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GPR61,GPR88,GPSM2,GPX7,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HEATR8,HEATR8-TTC4,HENMT1,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HMGCS2,HOOK1,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,IFI44,IFI44L,IGSF3,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,L1TD1,LAMTOR5,LDLRAD1,LEPR,LEPROT,LHX8,LINC00466,LINC00622,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131060,LOC100131564,LOC100505768,LOC100506343,LOC100507564,LOC100507634,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC39,LRRC40,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAB21L3,MAGI3,MAGOH,MAN1A2,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR3117,MIR320B1,MIR3671,MIR4256,MIR4422,MIR4423,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR942,MOV10,MRPL37,MSH4,MTF2,MYBPHL,MYSM1,NBPF4,NBPF6,NBPF7,NEGR1,NEGR1-IT1,NEXN,NFIA,NGF,NHLH2,NOTCH2,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OMA1,OVGP1,PALMD,PARS2,PCSK9,PDE4B,PGCP1,PGM1,PHGDH,PHTF1,PIGK,PIN1P1,PKN2,PODN,PPAP2B,PPM1J,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTPN22,RABGGTB,RAP1A,RAVER2,RBM15,RBMXL1,REG4,RHOC,RNPC3,RNU6-6,ROR1,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SCP2,SELRC1,SEP15,SERBP1,SGIP1,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A3P1,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SPAG17,SRG7,SRSF11,SSBP3,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TACSTD2,TAF13,TBX15,TCEANC2,TCTEX1D1,TGFBR3,TM2D1,TMED5,TMEM167B,TMEM48,TMEM56,TMEM56-RWDD3,TMEM59,TMEM61,TNNI3K,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTC22,TTC4,TTF2,TTLL7,TYW3,UBE2U,UBL4B,UOX,USP1,USP24,USP33,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR77,WDR78,WLS,WNT2B,YIPF1,ZCCHC11,ZNF326,ZNF644,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZYG11A,ZYG11B,ZZZ3 chr15 29011718 29012718 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 29018443 29071098 Gain and loss Pancreatic cancer SNP array 17952125 LOC100289656,LOC646278 chr15 29020705 29071099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100289656,LOC646278 chr15 29035743 29035845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC646278 chr15 29035744 29035846 Gain and loss Pancreatic cancer SNP array 17952125 LOC646278 chr1 52904202 53003346 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC11 chr15 29080845 29181216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L7P,LOC646278 chr15 29080845 29181216 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA6L7P,LOC646278 chr15 29080845 29181216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L7P,LOC646278 chr15 29144527 29144636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 29144527 29144636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 29144661 29144726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 29156293 29156572 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 29174650 58361079 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1042K arrays 21546498 ACTC1,ADAL,ALDH1A2,ANKRD63,ANP32AP1,AP4E1,APBA2,AQR,ARHGAP11A,ARHGAP11B,ARPP19,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CKMT1A,CKMT1B,COPS2,CSNK1A1P1,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM227B,FAM82A2,FAM98B,FAN1,FBN1,FGF7,FLJ10038,FLJ27352,FMN1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GCOM1,GJD2,GLDN,GNB5,GOLGA8A,GOLGA8B,GPR176,GREM1,HAUS2,HDC,HERC2P10,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KLF13,LCMT2,LEO1,LOC100131089,LOC100288637,LOC100505648,LOC145663,LOC145783,LOC145845,LOC283663,LOC283710,LOC645212,LOC653075,LPCAT4,LRRC57,LTK,LYSMD2,MAP1A,MAPK6,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1266,MIR1282,MIR147B,MIR211,MIR3942,MIR4310,MIR4510,MIR4712,MIR4713,MIR4716,MIR626,MIR627,MIR628,MNS1,MRPL42P5,MTMR10,MYEF2,MYO5A,MYO5C,MYZAP,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NOP10,NUSAP1,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PATL2,PDIA3,PGBD4,PHGR1,PIGB,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,POLR2M,PPIP5K1,PPP1R14D,PRTG,PYGO1,RAB27A,RAD51,RASGRP1,RFX7,RHOV,RNU6-28,RPAP1,RPUSD2,RSL24D1,RTF1,RYR3,SCG3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,THBS1,TJP1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM1,TRPM7,TTBK2,TUBGCP4,TYRO3,UBR1,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP50,USP8,VPS18,VPS39,WDR72,WDR76,WHAMMP1,ZFP106,ZFYVE19,ZNF280D,ZNF770,ZSCAN29 chr15 29198099 29980226 LOH Normal High-resolution SNP genotyping 21211785 APBA2,FAM189A1,NDNL2 chr15 29207889 29603362 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 APBA2,FAM189A1,NDNL2 chr15 29207889 29603362 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 APBA2,FAM189A1,NDNL2 chr15 29241373 29274397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APBA2 chr1 52925102 52936626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC11 chr1 52925102 52936626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC11 chr1 52929608 53430261 LOH Normal High-resolution SNP genotyping 21211785 ECHDC2,FAM159A,GPX7,SCP2,SELRC1,ZCCHC11,ZYG11A,ZYG11B chr1 52932018 52932141 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC11 chr1 52932020 52932074 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC11 chr15 29336012 29336092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APBA2 chr15 29340501 29482500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APBA2,FAM189A1 chr15 29357312 29357856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APBA2 chr15 29406375 29457393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APBA2,FAM189A1 chr15 29406375 29457393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APBA2,FAM189A1 chr15 29417031 29417130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM189A1 chr1 52947382 52947702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC11 chr15 29480675 29484167 Gain and loss Pancreatic cancer SNP array 17952125 FAM189A1 chr15 29482501 30055000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM189A1,NDNL2,TJP1 chr15 29499623 29500155 Gain and loss Pancreatic cancer SNP array 17952125 FAM189A1 chr15 29517737 30233287 In Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 FAM189A1,NDNL2,TJP1 chr1 52952659 52952954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC11 chr1 52952659 52952958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC11 chr15 29553592 29932359 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM189A1,NDNL2 chr15 29562620 29734834 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM189A1 chr15 29562620 29950076 Gain or loss Breast cancer - 20668451 FAM189A1 chr15 29562620 29950076 Gain or loss Cancer - 20668451 FAM189A1 chr15 29562620 29950076 Gain or loss Lung cancer - 20668451 FAM189A1 chr15 29562620 29950076 Gain or loss Ovarian cancer - 20668451 FAM189A1 chr15 29562620 29950076 Gain or loss Pancreas cancer - 20668451 FAM189A1 chr15 29562620 29950076 Gain or loss Prostate cancer - 20668451 FAM189A1 chr15 29562621 29734834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM189A1 chr15 29562621 29734834 Gain and loss Pancreatic cancer SNP array 17952125 FAM189A1 chr15 29562621 29734834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM189A1 chr15 29588701 29592400 Deletion Glioma mate-paired sequence 20126413 FAM189A1 chr15 29590148 29590614 Amplification Medulloblastoma Illumina SNP arrays 21163964 FAM189A1 chr1 52964769 53063913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC11 chr1 52964769 53063913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC11 chr15 29659894 29972498 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 FAM189A1 chr15 29694064 29705665 Deletion Schizophrenia NimbleGen HD2 platform 21346763 FAM189A1 chr15 29725770 29932359 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM189A1 chr15 29725770 30244833 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM189A1,TJP1 chr15 29725770 30320427 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM189A1,TJP1 chr15 29725770 30375195 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM189A1,TJP1 chr15 29769358 32654590 Loss or gain Normal 244K array 17666407 ARHGAP11B,CHRFAM7A,CHRNA7,DKFZP434L187,FAM189A1,FAN1,HERC2P10,KLF13,LOC100288637,LOC283710,LOC653075,MIR211,MTMR10,OTUD7A,TJP1,TRPM1,ULK4P1,ULK4P2,ULK4P3 chr15 29787913 30324509 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM189A1,TJP1 chr15 29787913 30324509 Copy number gain Normal High-resolution SNP genotyping 21211785 FAM189A1,TJP1 chr15 29798769 30215359 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM189A1,TJP1 chr15 29798781 30231488 Gain Normal Birdsuite, version 1.5.2 22087296 FAM189A1,TJP1 chr1 52979907 52980029 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC11 chr1 52979907 52980032 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC11 chr15 29810577 29841564 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM189A1 chr15 29810906 29841564 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM189A1 chr15 29810970 29899456 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FAM189A1 chr15 29817065 29841564 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM189A1 chr1 52982801 52982905 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC11 chr1 52984988 53023129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZCCHC11 chr15 29933849 29954281 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 29980323 29980391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 29981051 30184543 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TJP1 chr15 29981051 30184543 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TJP1 chr15 29994473 29994573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TJP1 chr1 5300000 7100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 5300000 7100000 Copy number Normal - 20680643 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 5300000 7100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 5300000 7100000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 5300000 9200000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT7,CA6,CAMTA1,CHD5,DNAJC11,ENO1,ENO1-AS1,ERRFI1,ESPN,GPR153,GPR157,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PARK7,PER3,PHF13,PLEKHG5,RERE,RNF207,RPL22,SLC2A5,SLC2A7,SLC45A1,TAS1R1,THAP3,TNFRSF25,TNFRSF9,UTS2,VAMP3,ZBTB48 chr15 30005060 30005154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TJP1 chr15 30007798 30007929 Gain and loss Pancreatic cancer SNP array 17952125 TJP1 chr15 30007798 30007929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TJP1 chr15 30029216 30029306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TJP1 chr15 30049171 30381482 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 TJP1 chr15 30054875 30057728 Gain and loss Pancreatic cancer SNP array 17952125 TJP1 chr15 30055001 30057500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TJP1 chr15 30078513 30078820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TJP1 chr15 30087226 30087306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TJP1 chr15 30100000 30250000 Deletion Neurodevelopmental disorder Fluorescent in situ hybridization analysis 21840925 TJP1 chr1 53010454 53010908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC11 chr15 30110018 30248525 Gain and loss Pancreatic cancer SNP array 17952125 TJP1 chr15 30110018 30249002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TJP1 chr15 30110018 30249002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TJP1 chr15 30137037 30138227 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 30179961 87936225 Loss Prostate cancer Array CGH 18632612 AAGAB,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANXA2,AP3B2,AP4E1,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf37,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GOLGA8A,GOLGA8B,GPR176,GRAMD2,GREM1,GTF2A2,HAUS2,HCN4,HDC,HDGFRP3,HERC1,HERC2P10,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH3A,IGDCC3,IGDCC4,IL16,IMP3,INO80,IQCH,IQCH-AS1,IREB2,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC100131089,LOC100288637,LOC100505648,LOC100505679,LOC100506874,LOC145663,LOC145783,LOC145837,LOC145845,LOC253044,LOC283663,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC338963,LOC388152,LOC390660,LOC440288,LOC440297,LOC440300,LOC642423,LOC645212,LOC645752,LOC646938,LOC648809,LOC653075,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOXL1,LOXL1-AS1,LPCAT4,LRRC49,LRRC57,LTK,LYSMD2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MEGF11,MEIS2,MESDC1,MESDC2,MEX3B,MFAP1,MGA,MGC15885,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4716,MIR5003,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MNS1,MORF4L1,MPI,MRPL42P5,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NMB,NOP10,NOX5,NPTN,NR2E3,NRG4,NUSAP1,OAZ2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PAQR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PGBD4,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PML,POLR2M,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCN2,RFX7,RHOV,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,STARD5,STARD9,STOML1,STRA6,STRC,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TUBGCP4,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP3,USP50,USP8,VPS13C,VPS18,VPS39,WDR61,WDR72,WDR73,WDR76,WHAMM,WHAMMP1,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF770,ZSCAN2,ZSCAN29,ZWILCH chr1 53018935 53019019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 30191187 30412040 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ULK4P3 chr15 30191187 30575370 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DKFZP434L187,LOC653075,ULK4P3 chr15 30191187 30609091 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DKFZP434L187,LOC653075,ULK4P3 chr15 30191187 30773871 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr15 30191187 30773871 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr15 30191203 30412040 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ULK4P3 chr15 30191203 30575370 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DKFZP434L187,LOC653075,ULK4P3 chr15 30191203 30773871 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr15 30213187 30609091 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DKFZP434L187,LOC653075,ULK4P3 chr15 30231548 30296440 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 30231548 30468651 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC653075,ULK4P3 chr15 30233044 30249935 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr15 30244269 30670754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr15 30244269 30670754 Copy number loss Normal High-resolution SNP genotyping 21211785 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr15 30244269 30685614 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr15 30244269 30685614 Copy number loss Normal High-resolution SNP genotyping 21211785 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr15 30245953 30276545 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 30245953 30614816 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 DKFZP434L187,LOC653075,ULK4P3 chr15 30254740 30254844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30254741 30254844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30254742 30254844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30276167 30405736 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ULK4P3 chr15 30291556 30297184 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 30297184 30299512 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 30297184 30587107 Duplication Normal Affymetrix 6.0 microarrays 20967226 DKFZP434L187,LOC653075,ULK4P3 chr15 30318608 30466987 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC653075,ULK4P3 chr15 30363645 30363751 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30363645 30363751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30393245 30394795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30397587 30704823 Substitutions and indels small cell lung cancer array-CGH 20016488 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr15 30407459 30609091 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DKFZP434L187,LOC653075,ULK4P3 chr15 30407459 30773871 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRFAM7A,DKFZP434L187,LOC653075,ULK4P3 chr1 53043368 53043472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30466987 30647150 Gain Normal Birdsuite, version 1.5.2 22087296 DKFZP434L187 chr15 30472275 30535065 Gain and loss Pancreatic cancer SNP array 17952125 DKFZP434L187 chr15 30472883 30472965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30473839 30474117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30473883 30474050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30473883 30474050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30475399 30475956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30486097 30504170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DKFZP434L187 chr15 30486097 30504170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DKFZP434L187 chr15 30505780 30505913 Gain and loss Pancreatic cancer SNP array 17952125 DKFZP434L187 chr15 30505781 30505913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DKFZP434L187 chr15 30516251 30565750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 30524599 30528247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30525208 30525290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30526171 30526449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30526215 30526382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30526215 30526382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30527646 30532471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30562114 30567579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30565751 30696000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHRFAM7A chr15 30578673 30579471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30587903 30587903 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr15 30587903 30587903 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr15 30606298 30608228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30660000 32440000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 ARHGAP11B,CHRFAM7A,CHRNA7,FAN1,HERC2P10,KLF13,LOC100288637,LOC283710,MIR211,MTMR10,OTUD7A,TRPM1,ULK4P1,ULK4P2 chr15 30672949 30680425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRFAM7A chr15 30672949 30680425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRFAM7A chr15 30673011 30683471 Gain and loss Pancreatic cancer SNP array 17952125 CHRFAM7A chr15 30677791 30678304 Gain and loss Pancreatic cancer SNP array 17952125 CHRFAM7A chr15 30677791 30678304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRFAM7A chr15 30681622 30681900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRFAM7A chr15 30681689 30681856 Gain and loss Pancreatic cancer SNP array 17952125 CHRFAM7A chr15 30681689 30681856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRFAM7A chr15 30682780 30682862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRFAM7A chr15 30694982 30715674 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr15 30694983 30719150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30694983 30719150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30694983 30719160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30695724 30695724 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr15 30715143 76809927 Substitutions and indels small cell lung cancer array-CGH 20016488 AAGAB,ACTC1,ADAL,ADAM10,ADPGK,ADPGK-AS1,ALDH1A2,ANKDD1A,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANXA2,AP4E1,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARPP19,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2L10,BLOC1S6,BMF,BNIP2,BUB1B,C15orf23,C15orf27,C15orf29,C15orf39,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHP1,CHRM5,CHRNA7,CHST14,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPLX3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DIS3L,DISP2,DLL4,DMXL2,DNAJC17,DNM1P35,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA8A,GOLGA8B,GPR176,GRAMD2,GREM1,GTF2A2,HAUS2,HCN4,HDC,HERC1,HERC2P10,HEXA,HEXA-AS1,HIGD2B,HMGN2P46,HSP90AB4P,IGDCC3,IGDCC4,IMP3,INO80,IQCH,IQCH-AS1,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIF23,KLF13,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00277,LINC00593,LIPC,LMAN1L,LOC100130855,LOC100131089,LOC100288637,LOC100505648,LOC145663,LOC145783,LOC145837,LOC145845,LOC283663,LOC283710,LOC283731,LOC440288,LOC645212,LOC729739,LOXL1,LOXL1-AS1,LPCAT4,LRRC49,LRRC57,LTK,LYSMD2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MEGF11,MEIS2,MFAP1,MGA,MGC15885,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1282,MIR147B,MIR190A,MIR211,MIR2116,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4510,MIR4511,MIR4513,MIR4712,MIR4713,MIR4716,MIR548H4,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MNS1,MPI,MRPL42P5,MTFMT,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NOP10,NOX5,NPTN,NR2E3,NRG4,NUSAP1,OAZ2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OTUD7A,PAK6,PAQR5,PARP16,PARP6,PATL2,PDCD7,PDIA3,PGBD4,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PML,POLR2M,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRTG,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRP1,RASL12,RBPMS2,RFX7,RHOV,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAPER,SCARNA14,SCG3,SCG5,SECISBP2L,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLC51B,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STOML1,STRA6,STRC,TBC1D21,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TIPIN,TLE3,TLN2,TMCO5A,TMCO5B,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TTBK2,TUBGCP4,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP3,USP50,USP8,VPS13C,VPS18,VPS39,WDR72,WDR76,WHAMMP1,ZFP106,ZFYVE19,ZNF280D,ZNF609,ZNF770,ZSCAN29,ZWILCH chr15 30715432 30721888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 30721203 30776584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30721203 30776584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30721223 30776584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 53073917 53099455 Gain and loss Pancreatic cancer SNP array 17952125 FAM159A,GPX7 chr15 30797496 30814158 Amplification Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr15 30797497 30814158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30797497 30814158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 30797501 30799000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 30797594 30814158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 30803770 32166897 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP11B,FAN1,HERC2P10,KLF13,LOC100288637,LOC283710,MIR211,MTMR10,OTUD7A,TRPM1,ULK4P1,ULK4P2 chr15 30803770 33891335 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP11A,ARHGAP11B,CHRNA7,FAN1,FMN1,GREM1,HERC2P10,KLF13,LOC100288637,LOC283710,MIR211,MTMR10,OTUD7A,RYR3,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr1 53080771 53133258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM159A chr1 53080771 53133258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM159A chr15 30853636 31274189 Amplification Intellectual disability 100k SNP Array 21811512 ARHGAP11B,FAN1,HERC2P10,LOC100288637,MTMR10,ULK4P1,ULK4P2 chr15 30853637 31147377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP11B,HERC2P10,LOC100288637,ULK4P1,ULK4P2 chr15 30853803 31234407 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP11B,FAN1,HERC2P10,LOC100288637,MTMR10,ULK4P1,ULK4P2 chr15 30870458 30900936 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ULK4P1,ULK4P2 chr15 30890301 31089500 Deletion Glioma mate-paired sequence 20126413 ARHGAP11B,LOC100288637,ULK4P1,ULK4P2 chr15 30974702 30974792 Gain and loss Pancreatic cancer SNP array 17952125 LOC100288637 chr15 30974702 30974792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288637 chr15 31043472 31043569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288637 chr15 31050220 31050283 Gain and loss Pancreatic cancer SNP array 17952125 LOC100288637 chr15 31050220 31050287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288637 chr1 53105069 53229303 Gain and loss Pancreatic cancer SNP array 17952125 FAM159A,SELRC1,ZYG11B chr15 31091623 31092192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 31149746 31212606 Copy number loss Normal High-resolution SNP genotyping 21211785 FAN1 chr15 31198422 31199422 Gain Renal cell carcinoma References 21215367 FAN1 chr15 31200000 33600000 Copy number Autism References 19521722 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Copy number Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Copy number Epilepsy References 19521722 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Copy number Mental retardation References 19521722 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Copy number Schizophrenia References 19521646 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion Autism Human 1M BeadChip SNP array 19050728 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion Epilepsy ref 20923578 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion or duplication Autism Array CGH 19955444 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion or duplication Autism ref 20964600 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion or duplication Schizophrenia Array CGH 19955444 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion Schizophrenia High-density SNP microarrays 19348701 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion Schizophrenia HumanHap300 chip, the HumanHap550 chip, the Affymetrix GeneChip GenomeWide SNP 6.0 18668039 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion Schizophrenia References 18990708 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion Schizophrenia References 19443537 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion Schizophrenia References 19571808 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Deletion Velocardiofacial syndrome References 19329560 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31200000 33600000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ARHGAP11A,CHRNA7,FAN1,FMN1,GREM1,KLF13,LOC283710,MIR211,MTMR10,OTUD7A,SCG5,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 31229284 31274189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAN1,MTMR10 chr15 31229284 31274189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAN1,MTMR10 chr15 31236867 31237867 Loss Renal cell carcinoma References 21215367 MTMR10 chr15 31239124 31240124 Loss Renal cell carcinoma References 21215367 MTMR10 chr15 31254990 31255990 Gain Renal cell carcinoma References 21215367 MTMR10 chr15 31315243 31325381 Gain and loss Pancreatic cancer SNP array 17952125 TRPM1 chr15 31315243 31327048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPM1 chr15 31331970 31332045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPM1 chr1 53134492 53159986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SELRC1 chr1 53134492 53159986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SELRC1 chr15 31390453 31945594 Gain and loss Pancreatic cancer SNP array 17952125 KLF13,LOC283710,OTUD7A,TRPM1 chr15 31390469 31945591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLF13,LOC283710,OTUD7A,TRPM1 chr15 31390469 31945591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLF13,LOC283710,OTUD7A,TRPM1 chr15 31400000 37900000 Copy number Legius syndrome - 19443465 ACTC1,ANP32AP1,AQR,ARHGAP11A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf55,CHRM5,CHRNA7,CSNK1A1P1,EMC4,EMC7,FMN1,GJD2,GOLGA8A,GOLGA8B,GREM1,KLF13,LOC145845,LOC283710,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,OTUD7A,PGBD4,RYR3,SCG5,SLC12A6,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,ZNF770 chr15 31400000 37900000 Deletion Holoprosencephaly Array CGH 21359414 ACTC1,ANP32AP1,AQR,ARHGAP11A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf55,CHRM5,CHRNA7,CSNK1A1P1,EMC4,EMC7,FMN1,GJD2,GOLGA8A,GOLGA8B,GREM1,KLF13,LOC145845,LOC283710,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,OTUD7A,PGBD4,RYR3,SCG5,SLC12A6,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,ZNF770 chr15 31400000 37900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTC1,ANP32AP1,AQR,ARHGAP11A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf55,CHRM5,CHRNA7,CSNK1A1P1,EMC4,EMC7,FMN1,GJD2,GOLGA8A,GOLGA8B,GREM1,KLF13,LOC145845,LOC283710,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,OTUD7A,PGBD4,RYR3,SCG5,SLC12A6,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,ZNF770 chr15 31400000 37900000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 ACTC1,ANP32AP1,AQR,ARHGAP11A,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf55,CHRM5,CHRNA7,CSNK1A1P1,EMC4,EMC7,FMN1,GJD2,GOLGA8A,GOLGA8B,GREM1,KLF13,LOC145845,LOC283710,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,OTUD7A,PGBD4,RYR3,SCG5,SLC12A6,TMCO5B,TRPM1,ULK4P1,ULK4P2,ULK4P3,WHAMMP1,ZNF770 chr15 31441170 31441270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPM1 chr15 31455738 31455818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 31461022 31462022 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 31490614 31490703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 31557413 31569534 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 53158665 53158857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SELRC1 chr15 31586956 31587956 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 31586956 31587956 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 31594995 31595055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 31601519 31602519 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 31609270 31609370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 31629722 31630722 Loss Renal cell carcinoma References 21215367 KLF13 chr1 53163507 53163683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SELRC1 chr15 31648952 31664983 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KLF13 chr1 53165530 53289870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZYG11B chr1 53165530 53289870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZYG11B chr15 31664387 31665387 Loss Renal cell carcinoma References 21215367 KLF13 chr15 31688027 31688327 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 31692256 31703546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 31693429 31693757 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 31693757 31696262 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 53172860 53172969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 31801985 31802086 Gain and loss Pancreatic cancer SNP array 17952125 OTUD7A chr15 31801985 31802087 Gain and loss Pancreatic cancer SNP array 17952125 OTUD7A chr15 31801985 31802089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUD7A chr15 31808357 31825421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OTUD7A chr15 31815016 31825084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OTUD7A chr1 53181794 53182192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 31830451 31830545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTUD7A chr15 31837501 31838500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OTUD7A chr15 31901436 31901528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTUD7A chr15 31922566 31923566 Gain Renal cell carcinoma References 21215367 OTUD7A chr15 31929123 31930123 Loss Cancer Human 24 color M-FISH 21215367 OTUD7A chr15 31929123 31930123 Loss Renal cell carcinoma References 21215367 OTUD7A chr15 31943525 31943635 Gain Autism 1M Ailent CGH whole-genome array 21865298 OTUD7A chr15 31945721 32118595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OTUD7A chr15 31945721 32118595 Gain and loss Pancreatic cancer SNP array 17952125 OTUD7A chr15 31945721 32118595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTUD7A chr15 31947771 31948771 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 31950708 31951708 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 31983222 31984222 Loss Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 31983222 31984222 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 31987740 31987994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 31997286 32621052 LOH Normal High-resolution SNP genotyping 21211785 CHRNA7 chr15 32004981 32005981 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 32005037 32006037 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 32034374 32035374 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 32048380 32144579 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 32048381 32144587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32048381 32144587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32078401 32078501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 32079839 32079939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 32142129 32144579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32163513 32181362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32163520 32181345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32163520 32181345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32181565 32183798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32181566 32183883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32181566 32183883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32201937 32202034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 32220168 32289515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32220168 32289515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32220168 32289515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32250729 32250829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 32273725 32444217 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 CHRNA7 chr15 32287808 32287908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 32296138 32296138 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr15 32296138 32296138 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr15 32304511 32309642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32304532 32309640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32304532 32309640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32309489 32417557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32309489 32417557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32312755 32417249 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA7 chr1 53231461 53231962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZYG11B chr1 53232986 53234286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZYG11B chr15 32330313 32698469 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRNA7 chr15 32330313 32775539 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRNA7,ULK4P1,ULK4P2,ULK4P3 chr1 53233427 53233536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZYG11B chr15 32339202 32360887 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CHRNA7 chr15 32372723 32384852 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CHRNA7 chr15 32385893 32599374 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRNA7 chr15 32385893 32669929 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRNA7 chr15 32385893 32698469 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRNA7 chr15 32385893 32698469 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRNA7 chr15 32385893 32775539 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHRNA7,ULK4P1,ULK4P2,ULK4P3 chr15 32394221 32394319 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA7 chr15 32394221 32394321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr1 53239875 53263194 Gain and loss Pancreatic cancer SNP array 17952125 ZYG11B chr15 32413226 32413321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHRNA7 chr15 32421210 32422653 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA7 chr15 32421217 32422654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32421217 32422654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32425358 32437225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32425358 32437225 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA7 chr15 32425358 32437225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32433499 32622908 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHRNA7 chr15 32437506 33877278 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ARHGAP11A,CHRNA7,FMN1,GREM1,RYR3,SCG5,TMCO5B,ULK4P1,ULK4P2,ULK4P3,WHAMMP1 chr15 32438381 32446687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32438381 32446687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32438403 32446771 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA7 chr15 32443488 32443777 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CHRNA7 chr15 32447812 32662643 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CHRNA7 chr15 32450046 32662643 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CHRNA7 chr15 32456454 32597368 Deletion Normal Affymetrix 6.0 microarrays 20967226 CHRNA7 chr15 32458417 32656175 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CHRNA7 chr15 32458557 32487180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32458561 32615503 Amplification or deletion Normal BAC aCGH 22315515 CHRNA7 chr15 32458564 32662353 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA7 chr15 32458869 32655070 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CHRNA7 chr15 32459378 32481928 Loss Normal Birdsuite, version 1.5.2 22087296 CHRNA7 chr15 32459510 32606592 Loss Autism qPCR, Affy 6.0 20531469 CHRNA7 chr15 32461562 32461643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA7 chr15 32465265 32610007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 32466009 32645429 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 32466009 32645429 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 32466009 32655451 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 32466009 32655451 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 32466069 32645302 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 32472522 32628056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 32472551 32662300 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 32481928 32487974 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 32482458 32578483 Deletion Cancer ultra-high resolution array CGH 21272361 NOT_FOUND chr15 32482602 32577084 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32482602 32582957 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32482602 32587887 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32482602 32618224 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32482602 32618224 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32482602 32650003 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32487963 32601822 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32487963 32618224 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32487974 32487975 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 32487975 32617680 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 32489033 32652556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 32489201 32489701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32492072 32494104 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 32492506 32621052 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 32492506 32621052 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 32496798 32698469 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 32496798 32775539 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ULK4P1,ULK4P2,ULK4P3 chr15 32499134 32681032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 32499226 32621052 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 32501403 32650003 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32505886 32587887 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr15 32510082 32618224 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32510712 32601822 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32510712 32617668 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32510712 32618224 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32510712 32645290 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32510712 32719681 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ULK4P1,ULK4P2,ULK4P3 chr15 32513987 32770952 Copy number loss Normal High-resolution SNP genotyping 21211785 ULK4P1,ULK4P2,ULK4P3 chr15 32514452 32618224 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32514902 32597368 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32514902 32617668 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32514902 32618224 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32514902 32643098 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32514902 32643098 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32517572 32654620 Deletion Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 NOT_FOUND chr15 32518382 32577084 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 32518382 32643098 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32518432 32669929 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 32523241 32572315 Deletion Rett syndrome References 21593744 NOT_FOUND chr15 32527152 32643098 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32529032 32529311 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 32532999 32643098 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32532999 32643098 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr15 32534267 32534592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 32540912 32587581 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 32568501 32569975 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32593501 32664500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 32600095 32601109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32605150 32662353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32605150 32662353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32607783 32607864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32617680 32618236 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 32618236 32650015 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 32631942 32632280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 32635423 32635923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 53264877 53320310 Gain and loss Pancreatic cancer SNP array 17952125 ZYG11A,ZYG11B chr15 32652732 32653052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 32676953 32677028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32676953 32677046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32717062 32770376 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ULK4P1,ULK4P2,ULK4P3 chr15 32718038 32718366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ULK4P1,ULK4P2,ULK4P3 chr15 32718656 32765105 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ULK4P1,ULK4P2,ULK4P3 chr15 32775194 32778261 Loss Normal 244K array 17666407 NOT_FOUND chr15 32796309 32796643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 32831934 32834074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32831934 32834074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32831971 32833981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 32839409 50732438 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACTC1,ADAL,ANKRD63,ANP32AP1,AQR,ARHGAP11A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CEP152,CHAC1,CHP1,CHRM5,CHST14,CKMT1A,CKMT1B,COPS2,CSNK1A1P1,CTDSPL2,CTXN2,DISP2,DLL4,DNAJC17,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM227B,FAM82A2,FAM98B,FBN1,FGF7,FLJ10038,FMN1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GJD2,GOLGA8A,GOLGA8B,GPR176,GREM1,HAUS2,HDC,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC145845,LOC645212,LPCAT4,LRRC57,LTK,MAP1A,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1282,MIR147B,MIR3942,MIR4310,MIR4510,MIR4712,MIR4716,MIR626,MIR627,MRPL42P5,MYEF2,NDUFAF1,NDUFAF4P1,NOP10,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PGBD4,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,RYR3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMCO5A,TMCO5B,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,USP8,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZNF770,ZSCAN29 chr15 32867589 32875219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32867589 32875219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 32869724 32875181 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 53292743 53306945 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZYG11B chr15 32927941 32928041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP11A chr15 32935042 33049248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GREM1,SCG5 chr15 32935042 33049248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREM1,SCG5 chr15 32935042 33049361 Gain and loss Pancreatic cancer SNP array 17952125 GREM1,SCG5 chr15 32935847 33826801 LOH Normal High-resolution SNP genotyping 21211785 FMN1,GREM1,RYR3,SCG5,TMCO5B chr15 32983684 32984684 Loss Renal cell carcinoma References 21215367 SCG5 chr15 32994983 32995983 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 53299501 53333500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZYG11A chr15 32995155 32996155 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 53300442 53323762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZYG11A chr1 53300442 53323762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZYG11A chr15 33052185 33052243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 33057839 33067746 Gain and loss Pancreatic cancer SNP array 17952125 FMN1 chr15 33057839 33067761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMN1 chr15 33057839 33067761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN1 chr15 33057982 33059473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN1 chr15 33058467 33062153 Gain and loss Pancreatic cancer SNP array 17952125 FMN1 chr15 33102625 33103625 Gain Renal cell carcinoma References 21215367 FMN1 chr15 33103921 33104921 Loss Renal cell carcinoma References 21215367 FMN1 chr15 33113303 33113524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMN1 chr1 53311370 53311650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZYG11A chr15 33150359 33150459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMN1 chr15 33163686 33164603 Gain and loss Pancreatic cancer SNP array 17952125 FMN1 chr15 33171959 33481261 Gain and loss Pancreatic cancer SNP array 17952125 FMN1 chr15 33200929 33201577 Gain and loss Pancreatic cancer SNP array 17952125 FMN1 chr15 33200929 33201577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMN1 chr15 33202080 33202175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMN1 chr15 33225252 35200430 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTC1,AQR,AVEN,C15orf29,C15orf55,CHRM5,EMC4,EMC7,FMN1,GJD2,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2,NOP10,PGBD4,RYR3,SLC12A6,TMCO5B chr1 53325444 53380837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ECHDC2,ZYG11A chr1 53325444 53380837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECHDC2,ZYG11A chr15 33281540 33323841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FMN1 chr15 33308082 33337837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FMN1 chr15 33318227 33323313 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FMN1 chr15 33318666 33318766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMN1 chr1 53333501 53352000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZYG11A chr15 33362089 33362460 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 33376282 33376440 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 33440097 33475033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 33450375 33625656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RYR3,TMCO5B chr15 33450375 33625656 Gain and loss Pancreatic cancer SNP array 17952125 RYR3,TMCO5B chr15 33450375 33625656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RYR3,TMCO5B chr15 33451031 33617775 Gain Autism 1M Ailent CGH whole-genome array 21865298 RYR3,TMCO5B chr15 33460471 33461471 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 33460682 33461682 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 33461234 33462234 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 33471941 35072476 Deletion Prader-willi syndrome Agilent 105K Array 21504564 AVEN,C15orf29,C15orf55,CHRM5,EMC4,EMC7,GJD2,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2,NOP10,PGBD4,RYR3,SLC12A6,TMCO5B chr15 33519321 33519421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 53352001 53362500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ECHDC2,ZYG11A chr15 33528685 33529162 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMCO5B chr15 33600000 40100000 Deletion Cancer Array CGH 17440070 ACTC1,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRM5,CSNK1A1P1,EMC4,EMC7,FAM98B,FSIP1,GJD2,GOLGA8A,GOLGA8B,GPR176,LOC145845,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,PGBD4,RASGRP1,RYR3,SLC12A6,SPRED1,THBS1,TMCO5A,ZNF770 chr15 33600000 40100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACTC1,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRM5,CSNK1A1P1,EMC4,EMC7,FAM98B,FSIP1,GJD2,GOLGA8A,GOLGA8B,GPR176,LOC145845,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,PGBD4,RASGRP1,RYR3,SLC12A6,SPRED1,THBS1,TMCO5A,ZNF770 chr15 33600000 40100000 Loss Breast cancer Microarray-based CGH 17133270 ACTC1,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRM5,CSNK1A1P1,EMC4,EMC7,FAM98B,FSIP1,GJD2,GOLGA8A,GOLGA8B,GPR176,LOC145845,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,PGBD4,RASGRP1,RYR3,SLC12A6,SPRED1,THBS1,TMCO5A,ZNF770 chr15 33600000 40100000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACTC1,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf41,C15orf53,C15orf54,C15orf55,CHRM5,CSNK1A1P1,EMC4,EMC7,FAM98B,FSIP1,GJD2,GOLGA8A,GOLGA8B,GPR176,LOC145845,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,PGBD4,RASGRP1,RYR3,SLC12A6,SPRED1,THBS1,TMCO5A,ZNF770 chr15 33600000 44800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACTC1,ADAL,ANKRD63,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,AVEN,BAHD1,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHRM5,CHST14,CKMT1A,CKMT1B,CSNK1A1P1,CTDSPL2,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,ELL3,EMC4,EMC7,EPB42,EXD1,FAM82A2,FAM98B,FRMD5,FSIP1,GANC,GCHFR,GJD2,GOLGA8A,GOLGA8B,GPR176,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145845,LPCAT4,LRRC57,LTK,MAP1A,MAPKBP1,MEIS2,MFAP1,MGA,MIR1233-1,MIR1233-2,MIR1282,MIR3942,MIR4310,MIR4510,MIR626,MIR627,MRPL42P5,NDUFAF1,NOP10,NUSAP1,OIP5,OIP5-AS1,PAK6,PDIA3,PGBD4,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,RYR3,SERF2,SERF2-C15ORF63,SERINC4,SLC12A6,SNAP23,SPINT1,SPRED1,SPTBN5,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMCO5A,TMEM62,TMEM87A,TP53BP1,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZNF770,ZSCAN29 chr15 33600000 63700000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ACTC1,ADAL,ADAM10,ALDH1A2,ANKRD63,ANP32AP1,ANXA2,AP4E1,APH1B,AQP9,AQR,ARPP19,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BNIP2,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNB2,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CHAC1,CHP1,CHRM5,CHST14,CKMT1A,CKMT1B,COPS2,CSNK1A1P1,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DISP2,DLL4,DMXL2,DNAJC17,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM214A,FAM227B,FAM63B,FAM81A,FAM82A2,FAM98B,FBN1,FGF7,FLJ10038,FLJ27352,FOXB1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GJD2,GLDN,GNB5,GOLGA8A,GOLGA8B,GPR176,GTF2A2,HAUS2,HDC,HMGN2P46,HSP90AB4P,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LACTB,LCMT2,LDHAL6B,LEO1,LIPC,LOC100131089,LOC100505648,LOC145663,LOC145783,LOC145845,LOC283663,LOC645212,LPCAT4,LRRC57,LTK,LYSMD2,MAP1A,MAPK6,MAPKBP1,MEIS2,MFAP1,MGA,MGC15885,MIR1233-1,MIR1233-2,MIR1266,MIR1282,MIR147B,MIR190A,MIR2116,MIR3942,MIR4310,MIR4510,MIR4712,MIR4713,MIR4716,MIR626,MIR627,MIR628,MNS1,MRPL42P5,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NDUFAF1,NDUFAF4P1,NEDD4,NOP10,NUSAP1,OIP5,OIP5-AS1,ONECUT1,PAK6,PATL2,PDIA3,PGBD4,PHGR1,PIGB,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,POLR2M,PPIP5K1,PPP1R14D,PRTG,PYGO1,RAB27A,RAB8B,RAD51,RASGRP1,RFX7,RHOV,RNF111,RNU6-28,RORA,RPAP1,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC12A6,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLTM,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,THBS1,TLN2,TMCO5A,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRPM7,TTBK2,TUBGCP4,TYRO3,UBR1,UNC13C,USP50,USP8,VPS13C,VPS18,VPS39,WDR72,WDR76,ZFP106,ZFYVE19,ZNF280D,ZNF770,ZSCAN29 chr15 33603223 33603323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR3 chr1 53364701 53369800 Deletion Glioma mate-paired sequence 20126413 ECHDC2 chr15 33661625 33661724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR3 chr1 53366686 53367536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ECHDC2 chr1 53366780 53368162 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ECHDC2 chr1 53371440 53750907 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C1orf123,CPT2,ECHDC2,LOC100507564,LRP8,MAGOH,PODN,SCP2,SLC1A7 chr1 53374513 53391616 Gain and loss Pancreatic cancer SNP array 17952125 ECHDC2 chr15 33801517 33834855 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RYR3 chr15 33818199 33818266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR3 chr15 33823394 34771477 LOH Normal High-resolution SNP genotyping 21211785 AVEN,C15orf29,C15orf55,CHRM5,EMC4,EMC7,GOLGA8A,LPCAT4,MIR1233-1,MIR1233-2,NOP10,PGBD4,RYR3,SLC12A6 chr15 33862795 33897960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RYR3 chr15 33877278 35301934 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ACTC1,AQR,AVEN,C15orf29,C15orf55,CHRM5,EMC4,EMC7,GJD2,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2,NOP10,PGBD4,RYR3,SLC12A6,ZNF770 chr1 53391790 53398312 Gain and loss Pancreatic cancer SNP array 17952125 SCP2 chr1 53393860 53393960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCP2 chr15 33947418 33949497 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RYR3 chr15 33947423 33949507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RYR3 chr15 33949322 33949422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR3 chr15 33976390 36387217 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTC1,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,AVEN,C15orf29,C15orf55,CHRM5,EMC4,EMC7,GJD2,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2,MIR3942,MIR4510,NOP10,PGBD4,RYR3,SLC12A6,ZNF770 chr15 33999101 33999201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR3 chr1 53404587 53416228 Gain and loss Pancreatic cancer SNP array 17952125 SCP2 chr15 34059307 34060307 Loss Renal cell carcinoma References 21215367 RYR3 chr15 34062543 34062843 Loss Renal cell carcinoma References 21215367 RYR3 chr15 34113111 34113281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR3 chr15 34119584 34119657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR3 chr15 34140057 34272543 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AVEN,CHRM5,RYR3 chr1 53423233 53505842 Gain and loss Pancreatic cancer SNP array 17952125 SCP2 chr15 34256590 34301933 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AVEN,CHRM5 chr15 34257086 41538368 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ACTC1,ANKRD63,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,AVEN,BAHD1,BMF,BUB1B,C15orf23,C15orf29,C15orf41,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHRM5,CHST14,CSNK1A1P1,DISP2,DLL4,DNAJC17,EIF2AK4,EMC4,EMC7,EXD1,FAM82A2,FAM98B,FSIP1,GCHFR,GJD2,GOLGA8A,GOLGA8B,GPR176,INO80,IVD,LOC100131089,LOC100505648,LOC145845,LPCAT4,MEIS2,MIR1233-1,MIR1233-2,MIR3942,MIR4510,MRPL42P5,NOP10,PAK6,PGBD4,PHGR1,PLCB2,PPP1R14D,RAD51,RASGRP1,RHOV,RPUSD2,SLC12A6,SPINT1,SPRED1,SRP14,THBS1,TMCO5A,VPS18,ZFYVE19,ZNF770 chr15 34291872 34291937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AVEN,CHRM5 chr1 53434689 53452455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCP2 chr1 53434689 53452455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCP2 chr15 34496886 34529345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C15orf29,EMC4,SLC12A6 chr1 53452362 53458877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCP2 chr1 53452362 53458877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCP2 chr15 34530165 34540188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC12A6 chr15 34552421 34552507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC12A6 chr15 34555657 34588347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC12A6 chr15 34616006 34623755 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SLC12A6 chr15 34649295 34649513 Gain and loss Pancreatic cancer SNP array 17952125 C15orf55 chr15 34649295 34649513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf55 chr15 34651478 34651705 Gain and loss Pancreatic cancer SNP array 17952125 LPCAT4 chr1 53465154 53476795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCP2 chr15 34693058 34693676 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA8A chr15 34696792 34697335 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA8A chr1 53470254 53470354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCP2 chr15 34741934 34741985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 34770651 34889724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA8B,MIR1233-1,MIR1233-2 chr15 34770651 34889724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA8B,MIR1233-1,MIR1233-2 chr15 34771180 34889740 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA8B,MIR1233-1,MIR1233-2 chr1 53483800 53566409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PODN,SCP2,SLC1A7 chr1 53483800 53566409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PODN,SCP2,SLC1A7 chr15 34878090 34897999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 34882707 41330584 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ACTC1,ANKRD63,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,BAHD1,BMF,BUB1B,C15orf23,C15orf41,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHST14,CSNK1A1P1,DISP2,DLL4,DNAJC17,EIF2AK4,FAM82A2,FAM98B,FSIP1,GCHFR,GJD2,GPR176,INO80,IVD,LOC100131089,LOC100505648,LOC145845,MEIS2,MIR3942,MIR4510,MRPL42P5,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RASGRP1,RHOV,RPUSD2,SPINT1,SPRED1,SRP14,THBS1,TMCO5A,VPS18,ZFYVE19,ZNF770 chr15 34884114 34898001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 34894397 34894494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 34932133 34932351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 34932133 34932352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 34970519 35189740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTC1,AQR,GJD2 chr15 34970519 35189740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTC1,AQR,GJD2 chr15 34970525 35180796 Gain and loss Pancreatic cancer SNP array 17952125 ACTC1,AQR,GJD2 chr15 35061898 35061963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 35062288 35062388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 35074973 35075073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 35092469 35136959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 53509501 53515500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCP2 chr15 35130321 35130423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 35130323 35130423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 35140533 43473382 Deletion Cancer Affymetrix 250K Sty array 20164920 ANKRD63,ANP32AP1,AQR,ATPBD4,ATPBD4-AS1,BAHD1,BMF,BUB1B,C15orf23,C15orf41,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CDAN1,CHAC1,CHP1,CHST14,CSNK1A1P1,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,FAM98B,FSIP1,GANC,GCHFR,GPR176,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LOC145845,LRRC57,LTK,MAPKBP1,MEIS2,MGA,MIR3942,MIR4310,MIR4510,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RASGRP1,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPRED1,SPTBN5,SRP14,STARD9,THBS1,TMCO5A,TMEM62,TMEM87A,TTBK2,TYRO3,UBR1,VPS18,VPS39,ZFP106,ZFYVE19,ZNF770 chr1 53515501 53532000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PODN,SCP2 chr15 35168794 35168870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AQR chr1 53532001 53567500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PODN,SLC1A7 chr15 35332026 35332086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 35342260 35773133 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANP32AP1,ATPBD4,MIR3942 chr15 35370176 35370276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 35473437 35473632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 35480911 35480990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 53550175 54091522 LOH Normal High-resolution SNP genotyping 21211785 C1orf123,CPT2,DMRTB1,GLIS1,LOC100507564,LRP8,MAGOH,PODN,SLC1A7,SLC25A3P1 chr15 35597001 35597045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 35618861 35759779 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATPBD4,MIR3942 chr1 53567501 53736500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf123,CPT2,LOC100507564,LRP8,MAGOH,SLC1A7 chr15 35706911 35706943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4 chr15 35713855 35714855 Loss Renal cell carcinoma References 21215367 ATPBD4 chr15 35747863 35748863 Gain Renal cell carcinoma References 21215367 ATPBD4 chr15 35827773 35827873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4 chr15 35882182 35883182 Loss Renal cell carcinoma References 21215367 ATPBD4-AS1 chr15 35892072 35892150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATPBD4-AS1 chr15 35899020 36027607 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATPBD4-AS1 chr15 35928974 35929034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4-AS1 chr15 35945979 35946079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4-AS1 chr15 35953742 35953842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4-AS1 chr15 35956089 35956189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4-AS1 chr15 35986238 35986338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4-AS1 chr15 36014119 36038492 Gain and loss Pancreatic cancer SNP array 17952125 ATPBD4-AS1 chr15 36014749 36030912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATPBD4-AS1 chr15 36014749 36030912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATPBD4-AS1 chr15 36054876 36055603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATPBD4-AS1 chr15 36096124 36096325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4-AS1 chr15 36096315 36096514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4-AS1 chr15 36102620 36102698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPBD4-AS1 chr15 36134769 38306300 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATPBD4-AS1,C15orf41,CSNK1A1P1,LOC145845,MEIS2,MIR4510,TMCO5A chr1 53616111 53617026 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 36175800 36176800 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36187175 36188175 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 36192336 36201666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 36197826 36197926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 36240860 36241160 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36263113 36264113 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 36263597 36264597 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 36267103 36268103 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 53627599 53660925 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 53630573 53741257 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1orf123,CPT2,LOC100507564,LRP8,MAGOH chr15 36331808 36433526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36331808 36433526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36331808 36433533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 36332343 36436742 Copy number Lung cancer - 20668451 NOT_FOUND chr15 36332343 36436742 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 36332343 36436742 Gain or loss Cancer - 20668451 NOT_FOUND chr15 36332343 36436742 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 36332343 36436742 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 36332343 36436742 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 36332343 36436742 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 36332344 36436742 Copy number Autism exome sequencing 22495311 NOT_FOUND chr1 53637093 53645179 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 36402721 36402821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 36419603 37079986 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C15orf41 chr1 53642491 53911866 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 C1orf123,CPT2,LOC100507564,LRP8,MAGOH,SLC25A3P1 chr15 36442339 36476004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 53648537 53648587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 53649226 53686315 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf123,CPT2 chr15 36500000 43700000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ADAL,ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf41,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CSNK1A1P1,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EPB42,EXD1,FAM82A2,FAM98B,FSIP1,GANC,GCHFR,GPR176,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145845,LRRC57,LTK,MAPKBP1,MEIS2,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPRED1,SPTBN5,SRP14,STARD9,TGM5,TGM7,THBS1,TMCO5A,TMEM62,TMEM87A,TP53BP1,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,ZFP106,ZFYVE19,ZSCAN29 chr15 36506090 36551151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 36533620 36564352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36533620 36564352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36533647 36563158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 36567590 36644224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36567590 36644224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 36567590 36644224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36567593 36598864 Copy number Normal TaqMan quantitative real-time PCR 20142840 NOT_FOUND chr15 36604216 36604516 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36621736 36621834 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 36621736 36621836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36621738 36621833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 36625932 36626932 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36638378 36639378 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36641115 36642115 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 36653682 36654682 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36673338 36933439 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C15orf41 chr15 36682020 36683020 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36726323 36727323 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36751203 36752203 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 53676635 53677634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPT2 chr15 36776091 36779531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36776091 36779531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 36776091 36779531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 36777533 36777633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 36819566 36820566 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 36825165 36826165 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 53683927 53911898 Gain and loss Pancreatic cancer SNP array 17952125 C1orf123,LOC100507564,LRP8,MAGOH,SLC25A3P1 chr15 36886375 36886454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf41 chr15 36889592 36889692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf41 chr15 36893206 36893306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf41 chr1 53697660 53705746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507564,MAGOH chr1 53697660 53705746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507564,MAGOH chr15 36989748 36989848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf41 chr15 37014887 37231883 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C15orf41,CSNK1A1P1,LOC145845,MEIS2 chr15 37019591 37019691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf41 chr15 37019619 37019719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf41 chr15 37054297 37054650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C15orf41 chr1 53706176 53706508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100507564 chr15 37079986 38787218 LOH Normal High-resolution SNP genotyping 21211785 C15orf41,CSNK1A1P1,FAM98B,LOC145845,MEIS2,RASGRP1,SPRED1,TMCO5A chr15 37095304 37095374 Gain and loss Pancreatic cancer SNP array 17952125 C15orf41,CSNK1A1P1 chr15 37095304 37095374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf41,CSNK1A1P1 chr15 37116192 37117076 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 37157801 37162500 Deletion Glioma mate-paired sequence 20126413 LOC145845 chr15 37160435 37160513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC145845 chr15 37171001 37172500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC145845 chr15 37307395 37307734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MEIS2 chr15 37313141 37313791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MEIS2 chr15 37320377 38787218 Copy number loss Normal High-resolution SNP genotyping 21211785 FAM98B,MEIS2,RASGRP1,SPRED1,TMCO5A chr15 37330177 37334333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEIS2 chr15 37330177 37334333 Gain and loss Pancreatic cancer SNP array 17952125 MEIS2 chr15 37330177 37334333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEIS2 chr15 37348674 37348762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEIS2 chr1 53736501 53747500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRP8 chr15 37366172 38405905 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MEIS2,TMCO5A chr15 37375518 37379480 Loss Normal Birdsuite, version 1.5.2 22087296 MEIS2 chr15 37386872 37386972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEIS2 chr1 53744494 53972465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DMRTB1,GLIS1,LRP8,SLC25A3P1 chr1 53744494 53972465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DMRTB1,GLIS1,LRP8,SLC25A3P1 chr1 53747501 53763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRP8 chr15 37484165 37485165 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 53750907 54788971 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CDCP2,CYB5RL,DIO1,DMRTB1,GLIS1,HSPB11,LDLRAD1,LRP8,LRRC42,MIR4781,MRPL37,SLC25A3P1,SSBP3,TCEANC2,TMEM48,TMEM59,YIPF1 chr15 37521266 37521366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 53752177 53787509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRP8 chr15 37529601 37534200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 37531569 37532192 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 37531569 37532192 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr15 37531683 37532151 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 37531684 37532152 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 37539946 37540946 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 37540088 37541088 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 37576510 37598755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 37585673 37585773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 37588095 37588395 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 37588832 37589832 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 37589239 37590239 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 37589405 37590405 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 53763001 53780500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRP8 chr15 37653129 37653223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 37660571 37676960 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr15 37660571 37676960 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 NOT_FOUND chr15 37660571 37676960 In Renal cell carcinoma MCG Whole Genome Array-4500 21228928 NOT_FOUND chr15 37660572 37676957 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 37660572 37681845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 37660572 37681845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 37671606 37716260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 37679524 37862331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 37679524 37862331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 37679528 37862323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 37707896 37708048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 37714414 37714514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 37804550 37805550 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 53780501 53830500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRP8 chr15 37880223 38000385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 37880223 38000385 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 37880223 38000385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 37900000 40700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD63,BMF,BUB1B,C15orf23,C15orf52,C15orf53,C15orf54,C15orf56,DISP2,EIF2AK4,FAM98B,FSIP1,GPR176,IVD,LOC100131089,PAK6,PHGR1,PLCB2,RASGRP1,SPRED1,SRP14,THBS1,TMCO5A chr15 37900000 40700000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ANKRD63,BMF,BUB1B,C15orf23,C15orf52,C15orf53,C15orf54,C15orf56,DISP2,EIF2AK4,FAM98B,FSIP1,GPR176,IVD,LOC100131089,PAK6,PHGR1,PLCB2,RASGRP1,SPRED1,SRP14,THBS1,TMCO5A chr15 37900000 40700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD63,BMF,BUB1B,C15orf23,C15orf52,C15orf53,C15orf54,C15orf56,DISP2,EIF2AK4,FAM98B,FSIP1,GPR176,IVD,LOC100131089,PAK6,PHGR1,PLCB2,RASGRP1,SPRED1,SRP14,THBS1,TMCO5A chr15 37900000 40700000 Loss Breast cancer aCGH 21045282 ANKRD63,BMF,BUB1B,C15orf23,C15orf52,C15orf53,C15orf54,C15orf56,DISP2,EIF2AK4,FAM98B,FSIP1,GPR176,IVD,LOC100131089,PAK6,PHGR1,PLCB2,RASGRP1,SPRED1,SRP14,THBS1,TMCO5A chr15 37900000 47600000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,CTDSPL2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,EHD4,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FAM98B,FRMD5,FSIP1,GANC,GATM,GCHFR,GPR176,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMCO5A,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 37900000 47600000 Copy number Papillary thyroid carcinoma QRT-PCR 22161024 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,CTDSPL2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,EHD4,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FAM98B,FRMD5,FSIP1,GANC,GATM,GCHFR,GPR176,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMCO5A,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 37900000 47600000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,CTDSPL2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,EHD4,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FAM98B,FRMD5,FSIP1,GANC,GATM,GCHFR,GPR176,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMCO5A,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 37900000 47600000 Deletion Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,CTDSPL2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,EHD4,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FAM98B,FRMD5,FSIP1,GANC,GATM,GCHFR,GPR176,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMCO5A,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 37900000 47600000 Loss Breast cancer aCGH 21045282 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,CTDSPL2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,EHD4,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FAM98B,FRMD5,FSIP1,GANC,GATM,GCHFR,GPR176,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMCO5A,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 37900000 55800000 Loss Breast cancer array-CGH 22032731 ADAL,ANKRD63,AP4E1,ARPP19,ATP8B4,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CCPG1,CDAN1,CEP152,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,COPS2,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DISP2,DLL4,DMXL2,DNAJC17,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM214A,FAM227B,FAM82A2,FAM98B,FBN1,FGF7,FLJ10038,FLJ27352,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GLDN,GNB5,GPR176,HAUS2,HDC,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LEO1,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,LYSMD2,MAP1A,MAPK6,MAPKBP1,MFAP1,MGA,MIR1266,MIR1282,MIR147B,MIR4310,MIR4712,MIR4713,MIR4716,MIR626,MIR627,MIR628,MRPL42P5,MYEF2,MYO5A,MYO5C,NDUFAF1,NDUFAF4P1,NUSAP1,OIP5,OIP5-AS1,ONECUT1,PAK6,PATL2,PDIA3,PHGR1,PIGB,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAB27A,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RSL24D1,RTF1,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMCO5A,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM7,TTBK2,TUBGCP4,TYRO3,UBR1,UNC13C,USP50,USP8,VPS18,VPS39,WDR72,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 37916023 37916123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 38002275 38002379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38002277 38002378 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38002278 38002372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38013639 38115089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38013639 38115089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38015271 40587801 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1046K arrays 21546498 ANKRD63,BMF,BUB1B,C15orf53,C15orf54,C15orf56,EIF2AK4,FAM98B,FSIP1,GPR176,LOC100131089,PAK6,PLCB2,RASGRP1,SPRED1,SRP14,THBS1,TMCO5A chr15 38030199 38030299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38030199 38030299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38033412 38115083 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38061896 38094380 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 38094502 38094630 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38101801 38354800 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMCO5A chr15 38115535 38118657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38115535 38118657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38115535 38118681 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38117109 38117188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 38118001 38318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMCO5A chr15 38118804 38146783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38144784 38144884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 38161488 38748047 LOH Normal High-resolution SNP genotyping 21211785 FAM98B,SPRED1,TMCO5A chr15 38161488 39387682 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,FAM98B,RASGRP1,SPRED1,TMCO5A chr15 38167386 38187882 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38167386 38188367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38167386 38188367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38169293 38229377 Amplification or deletion Cancer Array CGH 17440070 TMCO5A chr15 38174633 38174733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 53817768 53834566 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 53817768 53834861 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 38214055 38214125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38214055 38214125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38214126 38214182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38214126 38214182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38214185 38214253 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38214185 38214253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38240501 38300629 Gain or loss Breast cancer - 20668451 TMCO5A chr15 38240501 38300629 Gain or loss Cancer - 20668451 TMCO5A chr15 38240501 38300629 Gain or loss Lung cancer - 20668451 TMCO5A chr15 38240501 38300629 Gain or loss Ovarian cancer - 20668451 TMCO5A chr15 38240501 38300629 Gain or loss Pancreas cancer - 20668451 TMCO5A chr15 38240501 38300629 Gain or loss Prostate cancer - 20668451 TMCO5A chr15 38240530 38300613 Gain and loss Pancreatic cancer SNP array 17952125 TMCO5A chr15 38240530 38300627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO5A chr15 38240530 38300627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO5A chr15 38241119 41750990 Gain Prostate cancer Array CGH 18632612 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EIF2AK4,EXD1,FAM82A2,FAM98B,FSIP1,GCHFR,GPR176,INO80,IVD,LOC100131089,LOC100505648,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RASGRP1,RHOV,RPUSD2,RTF1,SPINT1,SPRED1,SRP14,THBS1,TMCO5A,VPS18,ZFYVE19 chr15 38258910 38258982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38258910 38258982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38271853 38271924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 38296920 38356980 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 38296920 38356980 Gain or loss Cancer - 20668451 NOT_FOUND chr15 38296920 38356980 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 38296920 38356980 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 38296920 38356980 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 38296920 38356980 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 53830501 53833000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 38317803 39017466 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,FAM98B,RASGRP1,SPRED1 chr15 38318001 38321500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 38319361 38356979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38319361 38356979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38319361 38356979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38321501 38446500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 53833001 53978000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DMRTB1,GLIS1,SLC25A3P1 chr15 38330160 38332402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38330160 38332402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38330160 38332402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38330638 39643775 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,C15orf54,FAM98B,RASGRP1,SPRED1 chr15 38339899 39251181 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,FAM98B,RASGRP1,SPRED1 chr15 38343151 38884513 LOH Normal High-resolution SNP genotyping 21211785 FAM98B,RASGRP1,SPRED1 chr15 38344641 40019574 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,C15orf54,FAM98B,FSIP1,RASGRP1,SPRED1,THBS1 chr15 38354801 39721000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf53,C15orf54,FAM98B,RASGRP1,SPRED1 chr15 38367389 38387466 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 38367392 38387466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38367392 38387466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38367402 38387330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38384136 38450393 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr15 38410946 38420460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38411007 38417590 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38425888 39930476 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,C15orf54,FAM98B,FSIP1,RASGRP1,SPRED1,THBS1 chr15 38437723 38450548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38437723 38450548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38437723 38450548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38437725 38450548 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 38446501 38450000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 38448779 38449878 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 38450001 38507500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 38462329 38473598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38462329 38473598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38462434 38473733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38484978 38498355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38484978 38498355 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38484978 38498355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38495266 39995543 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 C15orf53,C15orf54,FAM98B,FSIP1,RASGRP1,SPRED1,THBS1 chr15 38501943 38502257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 38507501 38552000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPRED1 chr15 38520703 38547718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr15 38520703 38547718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr15 38537021 40010116 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,C15orf54,FAM98B,FSIP1,RASGRP1,SPRED1,THBS1 chr15 38537935 38547718 Gain and loss Pancreatic cancer SNP array 17952125 SPRED1 chr15 38550489 38552643 Gain and loss Pancreatic cancer SNP array 17952125 SPRED1 chr15 38550505 38552643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr15 38550505 38552643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr1 53855801 53949867 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DMRTB1,SLC25A3P1 chr15 38560264 38560806 Gain and loss Pancreatic cancer SNP array 17952125 SPRED1 chr15 38560264 38560806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr15 38602518 38634296 Amplification or deletion Cancer Array CGH 17440070 SPRED1 chr15 38609061 38609133 Gain and loss Pancreatic cancer SNP array 17952125 SPRED1 chr15 38609061 38609163 Gain and loss Pancreatic cancer SNP array 17952125 SPRED1 chr15 38609061 38609164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr15 38609193 38610853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPRED1 chr15 38610832 38644544 Gain and loss Pancreatic cancer SNP array 17952125 SPRED1 chr15 38611000 48211000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,CTDSPL2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,EHD4,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FAM98B,FRMD5,FSIP1,GANC,GATM,GCHFR,GPR176,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 38619837 38782403 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM98B,RASGRP1,SPRED1 chr15 38623562 47871023 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.18 20877625 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf53,C15orf54,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,CTDSPL2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,EHD4,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FAM98B,FRMD5,FSIP1,GANC,GATM,GCHFR,GPR176,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RASGRP1,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,THBS1,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 38632592 38644544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr15 38632592 38644544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr15 38648823 38654183 Gain and loss Pancreatic cancer SNP array 17952125 SPRED1 chr15 38648829 38653953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr15 38648829 38653953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED1 chr1 53866444 53866505 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38673510 38742173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38673510 38742173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38673738 38742173 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 38673738 38742173 Gain or loss Cancer - 20668451 NOT_FOUND chr15 38673738 38742173 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 38673738 38742173 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 38673738 38742173 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 38673738 38742173 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 38673739 38741660 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38682540 38703186 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 38686704 38686802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38686704 38686802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38741422 38742422 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 38751185 38752185 Gain Renal cell carcinoma References 21215367 FAM98B chr15 38763184 38763558 Gain and loss Pancreatic cancer SNP array 17952125 FAM98B chr15 38769368 38769448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM98B chr15 38770444 38771444 Loss Renal cell carcinoma References 21215367 FAM98B chr15 38774650 38811648 Copy number Normal high-density (11M) CGH arrays 21423218 FAM98B,RASGRP1 chr15 38774650 38811648 Gain or loss Breast cancer - 20668451 FAM98B,RASGRP1 chr15 38774650 38811648 Gain or loss Cancer - 20668451 FAM98B,RASGRP1 chr15 38774650 38811648 Gain or loss Lung cancer - 20668451 FAM98B,RASGRP1 chr15 38774650 38811648 Gain or loss Ovarian cancer - 20668451 FAM98B,RASGRP1 chr15 38774650 38811648 Gain or loss Pancreas cancer - 20668451 FAM98B,RASGRP1 chr15 38774650 38811648 Gain or loss Prostate cancer - 20668451 FAM98B,RASGRP1 chr15 38774651 38811648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM98B,RASGRP1 chr15 38774651 38811648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM98B,RASGRP1 chr15 38774661 38811646 Gain and loss Pancreatic cancer SNP array 17952125 FAM98B,RASGRP1 chr15 38774912 38775912 Gain Renal cell carcinoma References 21215367 FAM98B chr15 38794724 39360449 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,RASGRP1 chr15 38815377 38835341 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 RASGRP1 chr15 38815378 38834750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASGRP1 chr15 38815378 38834750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASGRP1 chr15 38815378 38835341 Gain and loss Pancreatic cancer SNP array 17952125 RASGRP1 chr15 38842501 38856000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RASGRP1 chr15 38843558 38847198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASGRP1 chr15 38843558 38847198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASGRP1 chr15 38843577 38847203 Gain and loss Pancreatic cancer SNP array 17952125 RASGRP1 chr15 38845752 38845827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RASGRP1 chr15 38847363 38886954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASGRP1 chr15 38847363 38886954 Gain and loss Pancreatic cancer SNP array 17952125 RASGRP1 chr15 38847363 38886954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASGRP1 chr15 38849470 38851932 Gain and loss Pancreatic cancer SNP array 17952125 RASGRP1 chr15 38849570 38850639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASGRP1 chr15 38856001 38972000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RASGRP1 chr15 38886006 38887610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 38886566 38894059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38886566 38894059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38886605 38894059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38894616 40058005 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,C15orf54,FSIP1,THBS1 chr15 38894616 40092812 LOH Normal High-resolution SNP genotyping 21211785 C15orf53,C15orf54,FSIP1,THBS1 chr15 38894934 38908131 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 NOT_FOUND chr15 38894942 38908199 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 38894942 38908199 Gain or loss Cancer - 20668451 NOT_FOUND chr15 38894942 38908199 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 38894942 38908199 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 38894942 38908199 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 38894942 38908199 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 38894943 38908199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38894943 38908227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38894943 38908227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38923534 38937144 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38923538 38937144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38923538 38937144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38923934 38937145 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 38924962 38925032 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38924962 38925032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38943738 38943838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 38951704 38953779 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 38951706 38953705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38951706 38953705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38952193 38953731 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 38952193 38953731 Gain or loss Cancer - 20668451 NOT_FOUND chr15 38952193 38953731 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 38952193 38953731 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 38952193 38953731 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 38952193 38953731 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 38952194 38953731 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38972001 39038000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf53 chr15 38973920 38983464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38973920 38983464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 38973920 38983464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 38975605 38978514 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 39008838 39018529 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 39008838 39018529 Gain or loss Cancer - 20668451 NOT_FOUND chr15 39008838 39018529 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 39008838 39018529 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 39008838 39018529 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 39008838 39018529 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 39008839 39018529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39008839 39018529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39009159 39017019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39015841 39048864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 39025862 40012049 LOH Normal High-resolution SNP genotyping 21211785 C15orf54,FSIP1,THBS1 chr15 39032961 39035988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39032961 39035988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39032972 39036001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39039429 39604575 LOH Normal High-resolution SNP genotyping 21211785 C15orf54 chr15 39045000 39837000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 C15orf54 chr15 39058373 39195632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39058373 39195643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39058373 39195643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39073718 39074718 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 39086980 39087025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39198601 40261082 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 C15orf54,EIF2AK4,FSIP1,GPR176,THBS1 chr15 39203237 39203337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39242613 39243840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39242613 39243840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39242619 39243831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 53925291 53984359 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 DMRTB1,GLIS1 chr15 39262222 39310187 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr15 39262225 39310187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39262225 39310187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39262225 39310187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39271455 39271755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39271455 39271755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39271457 39271755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39310728 39361375 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr15 39310729 39361369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39310729 39361377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39310729 39361377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39325961 39326066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39329866 39329966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39347452 39404918 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 39347934 39366151 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39388760 39412111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39388762 39412111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39388762 39412111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39391313 39391722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39412361 39460535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39412361 39460535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39412380 39460535 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39436767 39436867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 53945413 54016196 Gain and loss Pancreatic cancer SNP array 17952125 GLIS1 chr15 39466845 39481934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39466845 39481934 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39466845 39481934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 53948712 53948847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 53948713 53948847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39496594 39563053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf54 chr15 39496594 39563053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf54 chr15 39496630 39562470 Gain and loss Pancreatic cancer SNP array 17952125 C15orf54 chr15 39526351 39526400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39528232 39528333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39528232 39528334 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39528232 39528334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39531233 39562300 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C15orf54 chr15 39542589 39542689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39555658 39609594 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 39569183 39569258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39572001 39665500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 39573365 39583031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39573365 39583035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39573365 39583035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39573797 39593052 Gain Normal 244K array 17666407 NOT_FOUND chr15 39583075 39593369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39583075 39593369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39583075 39593369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39583131 39593791 Copy number Lung cancer - 20668451 NOT_FOUND chr15 39583131 39593791 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 39583131 39593791 Gain or loss Cancer - 20668451 NOT_FOUND chr15 39583131 39593791 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 39583131 39593791 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 39583131 39593791 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 39583131 39593791 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 39593118 39593218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39596669 39623756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39596669 39623756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39596669 39623756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39638523 39658818 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 39638523 39658818 Gain or loss Cancer - 20668451 NOT_FOUND chr15 39638523 39658818 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 39638523 39658818 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 39638523 39658818 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 39638523 39658818 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 39638524 39658818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39638524 39658818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39638524 39658818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39642206 39643670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39649646 39649728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39650607 39651082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39652055 39652491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39652957 39653167 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39653306 39657375 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39659746 39659846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 5396800 5396874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39684147 40310084 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EIF2AK4,FSIP1,GPR176,THBS1 chr15 39691362 39691601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39691465 39691605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 39694722 39694789 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39694722 39694789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39721001 43794300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAL,ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EPB42,EXD1,FAM82A2,FSIP1,GANC,GCHFR,GPR176,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,SRP14,STARD9,TGM5,TGM7,THBS1,TMEM62,TMEM87A,TP53BP1,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,ZFP106,ZFYVE19,ZSCAN29 chr1 53972208 53972277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLIS1 chr15 39739902 39849433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39739902 39849433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39739936 39808749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39760701 39761701 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 39771075 39771168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 53978589 53978621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLIS1 chr15 39805028 39805359 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 39819534 39849431 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39821708 39822708 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 39832117 39866277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39850326 39852062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 39850326 39852062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 39853974 39906628 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1,THBS1 chr15 39853974 39906644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSIP1,THBS1 chr1 53987968 53988077 Gain and loss Pancreatic cancer SNP array 17952125 GLIS1 chr15 39900001 39974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FSIP1 chr15 39904223 39936663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FSIP1 chr15 39906779 39907343 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1 chr15 39907581 39927628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSIP1 chr15 39907581 39927628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSIP1 chr15 39907603 39927637 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1 chr15 39927637 39973567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSIP1 chr15 39927637 39973567 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1 chr15 39927637 39973567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSIP1 chr15 39931403 39931519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSIP1 chr15 39931410 39931519 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1 chr15 39931431 39931519 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1 chr15 39931664 39932664 Loss Renal cell carcinoma References 21215367 FSIP1 chr15 39972283 39975425 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1 chr15 39972283 39975425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSIP1 chr15 39974501 40062500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FSIP1 chr15 39978933 40052038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSIP1 chr15 39978933 40052038 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1 chr15 39978933 40052038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSIP1 chr15 39984401 39984501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSIP1 chr1 5400000 7200000 Deletion T-cell acute lymphoblastic leukemia Array CGH 18185524 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 5400000 7200000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 5400000 7200000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4417,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 54005980 54076763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr1 54005980 54076763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr15 40061072 40130680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSIP1,GPR176 chr15 40061072 40130680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSIP1,GPR176 chr15 40061074 40077012 Gain and loss Pancreatic cancer SNP array 17952125 FSIP1 chr15 40062501 40172000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FSIP1,GPR176 chr1 54009279 54009414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr15 40100000 102531392 Loss Basal cell lymphoma CGH 17170743 AAGAB,ABHD2,ACAN,ACSBG1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP8B4,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf43,C15orf44,C15orf48,C15orf52,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHP1,CHRNA3,CHRNA5,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FOXB1,FRMD5,FSD2,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GPR176,GRAMD2,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100130855,LOC100131089,LOC100144604,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645212,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR2116,MIR3175,MIR3529,MIR4310,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,PAK6,PAQR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNRPA1,SNUPN,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,UBR1,ULK3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 40100000 102531392 Loss Follicular lymphoma CGH 17170743 AAGAB,ABHD2,ACAN,ACSBG1,ADAL,ADAM10,ADAMTS17,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALDH1A3,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB7,ASB9P1,ATP8B4,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf43,C15orf44,C15orf48,C15orf52,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CERS3,CGNL1,CHAC1,CHD2,CHP1,CHRNA3,CHRNA5,CHRNB4,CHST14,CHSY1,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DDX11L9,DENND4A,DET1,DIS3L,DISP2,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FLJ42289,FOXB1,FRMD5,FSD2,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GPR176,GRAMD2,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LINS,LIPC,LMAN1L,LOC100130855,LOC100131089,LOC100144604,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145663,LOC145783,LOC145820,LOC145837,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645212,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,LRRC57,LRRK1,LTK,LYSMD2,LYSMD4,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR2116,MIR3175,MIR3529,MIR4310,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4F13P,OR4F15,OR4F4,OR4F6,PAK6,PAQR5,PARP16,PARP6,PATL2,PCSK6,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNRPA1,SNUPN,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM2D3,TM6SF1,TMC3,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,UBR1,ULK3,UNC13C,UNC45A,USP3,USP50,USP8,VIMP,VPS13C,VPS18,VPS33B,VPS39,WASH3P,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 40100000 42800000 Loss and deletion Multiple myeloma Array CGH 16616336 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,GPR176,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,SRP14,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40100000 44800000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ADAL,ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,CTDSPL2,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,ELL3,EPB42,EXD1,FAM82A2,FRMD5,GANC,GCHFR,GPR176,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SERF2,SERF2-C15ORF63,SERINC4,SNAP23,SPINT1,SPTBN5,SRP14,STARD9,STRC,TGM5,TGM7,TMEM62,TMEM87A,TP53BP1,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 40100000 49500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CEP152,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,COPS2,CTDSPL2,CTXN2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FBN1,FRMD5,GALK2,GANC,GATM,GCHFR,GPR176,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR4716,MIR626,MIR627,MRPL42P5,MYEF2,NDUFAF1,NDUFAF4P1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TGM5,TGM7,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 40112370 40112464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR176 chr15 40114238 41804225 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EIF2AK4,EXD1,FAM82A2,GCHFR,GPR176,INO80,ITPKA,IVD,LOC100131089,LOC100505648,LTK,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPUSD2,RTF1,SPINT1,SRP14,VPS18,ZFYVE19 chr15 40117624 42929690 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,GPR176,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,SRP14,STARD9,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40146180 42883254 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,GPR176,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,SRP14,STARD9,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40146180 43332484 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CDAN1,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,GPR176,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,SRP14,STARD9,TMEM87A,TTBK2,TYRO3,UBR1,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40147173 40174044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR176 chr15 40147173 40174044 Gain and loss Pancreatic cancer SNP array 17952125 GPR176 chr15 40147173 40174044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR176 chr15 40147365 40935716 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,CASC5,CHST14,DISP2,EIF2AK4,GPR176,IVD,LOC100131089,MRPL42P5,PAK6,PHGR1,PLCB2,RPUSD2,SRP14 chr15 40149798 40705355 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BMF,BUB1B,C15orf23,C15orf52,C15orf56,DISP2,EIF2AK4,GPR176,IVD,LOC100131089,PAK6,PHGR1,PLCB2,SRP14 chr15 40172001 40174500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR176 chr15 40174501 40220000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR176 chr15 40187202 40705355 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BMF,BUB1B,C15orf23,C15orf52,C15orf56,DISP2,EIF2AK4,GPR176,IVD,LOC100131089,PAK6,PHGR1,PLCB2,SRP14 chr15 40191067 40191367 Gain Renal cell carcinoma References 21215367 GPR176 chr15 40193388 40194388 Loss Renal cell carcinoma References 21215367 GPR176 chr15 40196241 40197241 Gain Renal cell carcinoma References 21215367 GPR176 chr15 40197219 42789924 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,GPR176,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,SRP14,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40208707 40221098 Loss Normal Birdsuite, version 1.5.2 22087296 GPR176 chr15 40210565 42266534 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GCHFR,GPR176,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,SPTBN5,SRP14,TYRO3,VPS18,ZFYVE19 chr15 40215424 40216424 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 40216028 40217028 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 40220001 40239500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EIF2AK4 chr15 40220691 40236102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK4 chr15 40220691 40236102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK4 chr15 40220695 40236131 Gain and loss Pancreatic cancer SNP array 17952125 EIF2AK4 chr15 40224008 41600628 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EIF2AK4,EXD1,FAM82A2,GCHFR,INO80,IVD,LOC100131089,LOC100505648,MRPL42P5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPUSD2,SPINT1,SRP14,VPS18,ZFYVE19 chr15 40224008 42030985 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EIF2AK4,EXD1,FAM82A2,GCHFR,INO80,ITPKA,IVD,LOC100131089,LOC100505648,LTK,MGA,MIR626,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,SRP14,TYRO3,VPS18,ZFYVE19 chr15 40224008 42103255 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EIF2AK4,EXD1,FAM82A2,GCHFR,INO80,ITPKA,IVD,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR626,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,SRP14,TYRO3,VPS18,ZFYVE19 chr15 40224828 42737543 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,SPTBN5,SRP14,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40224922 40935716 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,CASC5,CHST14,DISP2,EIF2AK4,IVD,LOC100131089,MRPL42P5,PAK6,PHGR1,PLCB2,RPUSD2,SRP14 chr15 40225835 40935716 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,CASC5,CHST14,DISP2,EIF2AK4,IVD,LOC100131089,MRPL42P5,PAK6,PHGR1,PLCB2,RPUSD2,SRP14 chr15 40225835 40944147 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,CASC5,CHST14,DISP2,EIF2AK4,IVD,LOC100131089,MRPL42P5,PAK6,PHGR1,PLCB2,RPUSD2,SRP14 chr15 40225835 43736553 LOH Normal High-resolution SNP genotyping 21211785 ADAL,ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CCNDBP1,CDAN1,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EPB42,EXD1,FAM82A2,GANC,GCHFR,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100131089,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,SRP14,STARD9,TGM5,TGM7,TMEM62,TMEM87A,TP53BP1,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,ZFP106,ZFYVE19,ZSCAN29 chr15 40226952 42244442 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GCHFR,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,SPTBN5,SRP14,TYRO3,VPS18,ZFYVE19 chr15 40226952 42722040 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,SPTBN5,SRP14,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40226952 42793291 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,SRP14,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40235569 42722040 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EIF2AK4,EXD1,FAM82A2,GANC,GCHFR,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100131089,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,SPTBN5,SRP14,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40238192 40287794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK4 chr15 40238192 40287794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK4 chr15 40238206 40287794 Gain and loss Pancreatic cancer SNP array 17952125 EIF2AK4 chr15 40239922 40240922 Gain Renal cell carcinoma References 21215367 EIF2AK4 chr15 40253835 40285751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EIF2AK4 chr15 40279060 40279156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK4 chr15 40290026 40352926 Gain and loss Pancreatic cancer SNP array 17952125 EIF2AK4,LOC100131089,SRP14 chr15 40290041 40352930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK4,LOC100131089,SRP14 chr15 40290041 40352930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK4,LOC100131089,SRP14 chr1 54029428 54067474 Gain and loss Pancreatic cancer SNP array 17952125 GLIS1 chr1 54029769 55100800 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-256K arrays 21546498 ACOT11,CDCP2,CYB5RL,DIO1,FAM151A,GLIS1,HSPB11,LDLRAD1,LRRC42,MIR4781,MRPL37,SSBP3,TCEANC2,TMEM48,TMEM59,YIPF1 chr15 40353658 40433155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMF,LOC100131089 chr15 40353658 40433155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMF,LOC100131089 chr15 40353766 40491807 Gain and loss Pancreatic cancer SNP array 17952125 BMF,BUB1B,LOC100131089 chr15 40381970 41864641 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EXD1,FAM82A2,GCHFR,INO80,ITPKA,IVD,LOC100505648,LTK,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,TYRO3,VPS18,ZFYVE19 chr15 40381970 49551259 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1060K arrays 21546498 ADAL,ANKRD63,B2M,BAHD1,BLOC1S6,BMF,BUB1B,C15orf23,C15orf43,C15orf48,C15orf52,C15orf56,C15orf57,C15orf62,C15orf63,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CEP152,CHAC1,CHP1,CHST14,CKMT1A,CKMT1B,COPS2,CTDSPL2,CTXN2,DISP2,DLL4,DNAJC17,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EHD4,EID1,EIF3J,ELL3,EPB42,EXD1,FAM82A2,FBN1,FRMD5,GALK2,GANC,GATM,GCHFR,HAUS2,HMGN2P46,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LCMT2,LOC100505648,LOC145663,LOC645212,LRRC57,LTK,MAP1A,MAPKBP1,MFAP1,MGA,MIR1282,MIR147B,MIR4310,MIR4716,MIR626,MIR627,MRPL42P5,MYEF2,NDUFAF1,NDUFAF4P1,NUSAP1,OIP5,OIP5-AS1,PAK6,PATL2,PDIA3,PHGR1,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPIP5K1,PPP1R14D,RAD51,RHOV,RNU6-28,RPAP1,RPUSD2,RTF1,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPINT1,SPTBN5,SQRDL,STARD9,STRC,TGM5,TGM7,TMEM62,TMEM87A,TP53BP1,TRIM69,TTBK2,TUBGCP4,TYRO3,UBR1,VPS18,VPS39,WDR76,ZFP106,ZFYVE19,ZSCAN29 chr15 40396083 40396183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMF chr15 40397220 42009564 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1054K arrays 21546498 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EXD1,FAM82A2,GCHFR,INO80,ITPKA,IVD,LOC100505648,LTK,MGA,MIR626,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,TYRO3,VPS18,ZFYVE19 chr15 40397701 42009564 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1059K arrays 21546498 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EXD1,FAM82A2,GCHFR,INO80,ITPKA,IVD,LOC100505648,LTK,MGA,MIR626,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,TYRO3,VPS18,ZFYVE19 chr15 40397968 41269784 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1044K arrays 21546498 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHST14,DISP2,DLL4,DNAJC17,FAM82A2,GCHFR,IVD,LOC100505648,MRPL42P5,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPUSD2,SPINT1,VPS18,ZFYVE19 chr15 40397968 41501129 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1058K arrays 21546498 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHST14,DISP2,DLL4,DNAJC17,EXD1,FAM82A2,GCHFR,INO80,IVD,LOC100505648,MRPL42P5,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPUSD2,SPINT1,VPS18,ZFYVE19 chr15 40397968 41864641 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1049K arrays 21546498 ANKRD63,BAHD1,BMF,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EXD1,FAM82A2,GCHFR,INO80,ITPKA,IVD,LOC100505648,LTK,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SPINT1,TYRO3,VPS18,ZFYVE19 chr15 40421592 40433060 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 40427592 40491807 Deletion Non-syndromic sensorineural hearing loss array CGH 22150418 BUB1B chr15 40427592 40491807 Genomic rearrangement Autosomal-recessive limb girdle muscular dystrophy array CGH 22150418 BUB1B chr15 40427593 40491807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BUB1B chr15 40427593 40491807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BUB1B chr15 40440846 40440946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 40467188 42815577 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40467188 42821571 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100505648,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40467188 42881899 LOH Normal High-resolution SNP genotyping 21211785 ANKRD63,BAHD1,BUB1B,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DISP2,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,HAUS2,INO80,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PAK6,PHGR1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr1 54048535 54048644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr15 40492314 40537022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BUB1B,PAK6 chr15 40492314 40537022 Gain and loss Pancreatic cancer SNP array 17952125 BUB1B,PAK6 chr15 40492314 40537022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BUB1B,PAK6 chr15 40493723 40494137 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BUB1B chr15 40507081 40507187 Gain and loss Pancreatic cancer SNP array 17952125 BUB1B chr15 40507081 40507187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BUB1B chr15 40507082 40507187 Gain and loss Pancreatic cancer SNP array 17952125 BUB1B chr15 40519946 41269784 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1053K arrays 21546498 ANKRD63,BAHD1,C15orf23,C15orf52,C15orf56,C15orf57,C15orf62,CASC5,CHAC1,CHST14,DISP2,DLL4,DNAJC17,FAM82A2,GCHFR,IVD,LOC100505648,MRPL42P5,PAK6,PHGR1,PLCB2,PPP1R14D,RAD51,RHOV,RPUSD2,SPINT1,VPS18,ZFYVE19 chr15 40533683 40607743 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD63,C15orf56,PAK6,PLCB2 chr15 40544143 40578158 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD63,C15orf56,PAK6 chr15 40575127 40612548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLCB2 chr15 40575127 40612548 Gain and loss Pancreatic cancer SNP array 17952125 PLCB2 chr15 40575127 40612548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB2 chr15 40578100 40578200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 40590269 40590339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB2 chr15 40622014 40628292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf52 chr15 40622014 40628292 Gain and loss Pancreatic cancer SNP array 17952125 C15orf52 chr15 40622014 40628292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf52 chr15 40628345 40647334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf52,PHGR1 chr15 40628345 40647334 Gain and loss Pancreatic cancer SNP array 17952125 C15orf52,PHGR1 chr15 40628345 40647334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf52,PHGR1 chr15 40655149 40752587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAHD1,C15orf23,DISP2,IVD chr15 40655149 40752587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAHD1,C15orf23,DISP2,IVD chr15 40658765 40691872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C15orf23,DISP2 chr15 40663687 40663764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 40680009 40680344 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C15orf23 chr15 40700000 41400000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 BAHD1,C15orf57,C15orf62,CASC5,CHAC1,CHST14,DLL4,DNAJC17,FAM82A2,GCHFR,INO80,IVD,LOC100505648,MRPL42P5,PPP1R14D,RAD51,RHOV,RPUSD2,SPINT1,VPS18,ZFYVE19 chr15 40718599 42883348 LOH Normal High-resolution SNP genotyping 21211785 BAHD1,C15orf57,C15orf62,CAPN3,CASC5,CHAC1,CHP1,CHST14,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr1 54071882 54088778 Gain and loss Pancreatic cancer SNP array 17952125 GLIS1 chr15 40728944 43172283 LOH Normal High-resolution SNP genotyping 21211785 BAHD1,C15orf57,C15orf62,CAPN3,CASC5,CDAN1,CHAC1,CHP1,CHST14,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TTBK2,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40728944 43421862 LOH Normal High-resolution SNP genotyping 21211785 BAHD1,C15orf57,C15orf62,CAPN3,CASC5,CDAN1,CHAC1,CHP1,CHST14,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TTBK2,TYRO3,UBR1,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40732002 40755259 Gain and loss Pancreatic cancer SNP array 17952125 BAHD1 chr15 40761448 40762448 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 40764306 40766717 Gain and loss Pancreatic cancer SNP array 17952125 CHST14 chr15 40764306 40781610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHST14 chr15 40764306 40781610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST14 chr15 40766990 40800348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 40769708 40800347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 40785816 40786816 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 40788184 40788282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 40788184 40788282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 40795032 40795332 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 40795460 40796460 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 54079805 54080090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr15 40798687 40799067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 40803054 40816597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 40803054 40816709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 40803054 40816709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 40811223 40812223 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr15 40820124 41332686 LOH Normal High-resolution SNP genotyping 21211785 C15orf57,C15orf62,CASC5,CHAC1,DLL4,DNAJC17,FAM82A2,GCHFR,INO80,LOC100505648,MRPL42P5,PPP1R14D,RAD51,RHOV,RPUSD2,SPINT1,VPS18,ZFYVE19 chr15 40820124 43231617 LOH Normal High-resolution SNP genotyping 21211785 C15orf57,C15orf62,CAPN3,CASC5,CDAN1,CHAC1,CHP1,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LOC100505648,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,MRPL42P5,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PPP1R14D,RAD51,RHOV,RPAP1,RPUSD2,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TTBK2,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 40823842 41000299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf57,CASC5,LOC100505648,MRPL42P5,RAD51,RPUSD2 chr15 40823842 41000299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf57,CASC5,LOC100505648,MRPL42P5,RAD51,RPUSD2 chr15 40825025 41000299 Gain and loss Pancreatic cancer SNP array 17952125 C15orf57,CASC5,LOC100505648,RAD51,RPUSD2 chr15 40825374 40825447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 40880652 40880808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 54089994 54128041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr1 54089994 54128041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr1 54091358 54091458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLIS1 chr15 40943493 40943583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASC5 chr15 40954370 40954460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASC5 chr1 54098939 54099028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLIS1 chr1 54099257 54123309 Gain and loss Pancreatic cancer SNP array 17952125 GLIS1 chr15 41018798 41019710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51 chr15 41018804 41220709 Gain and loss Pancreatic cancer SNP array 17952125 C15orf62,DNAJC17,FAM82A2,GCHFR,PPP1R14D,RAD51,RHOV,SPINT1,VPS18,ZFYVE19 chr15 41022389 41185512 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 C15orf62,DNAJC17,FAM82A2,GCHFR,PPP1R14D,RAD51,RHOV,SPINT1,ZFYVE19 chr15 41022389 41185512 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 C15orf62,DNAJC17,FAM82A2,GCHFR,PPP1R14D,RAD51,RHOV,SPINT1,ZFYVE19 chr15 41022398 41185578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf62,DNAJC17,FAM82A2,GCHFR,PPP1R14D,RAD51,RHOV,SPINT1,ZFYVE19 chr15 41022398 41185578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf62,DNAJC17,FAM82A2,GCHFR,PPP1R14D,RAD51,RHOV,SPINT1,ZFYVE19 chr15 41023696 41042630 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM82A2,RAD51 chr15 41024819 41185512 Gain and loss Pancreatic cancer SNP array 17952125 C15orf62,DNAJC17,FAM82A2,GCHFR,PPP1R14D,RHOV,SPINT1,ZFYVE19 chr15 41028986 41051408 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM82A2 chr15 41039713 41039881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM82A2 chr15 41039879 41040019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM82A2 chr15 41041769 42881899 LOH Normal High-resolution SNP genotyping 21211785 C15orf62,CAPN3,CHAC1,CHP1,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PPP1R14D,RHOV,RPAP1,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 41044125 42881899 LOH Normal High-resolution SNP genotyping 21211785 C15orf62,CAPN3,CHAC1,CHP1,DLL4,DNAJC17,EHD4,EXD1,FAM82A2,GANC,GCHFR,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PPP1R14D,RHOV,RPAP1,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TYRO3,VPS18,VPS39,ZFP106,ZFYVE19 chr15 41056547 41056597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCHFR chr15 41100166 41100323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE19 chr15 41100318 41100503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE19 chr15 41101131 41133066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP1R14D,ZFYVE19 chr15 41148880 42722040 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CHAC1,CHP1,DLL4,EHD4,EXD1,GANC,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RHOV,RPAP1,RTF1,SPINT1,SPTBN5,TMEM87A,TYRO3,VPS18,VPS39,ZFP106 chr15 41148880 42789924 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CHAC1,CHP1,DLL4,EHD4,EXD1,GANC,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RHOV,RPAP1,RTF1,SNAP23,SPINT1,SPTBN5,TMEM87A,TYRO3,VPS18,VPS39,ZFP106 chr15 41148880 42881899 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CHAC1,CHP1,DLL4,EHD4,EXD1,GANC,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RHOV,RPAP1,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TYRO3,VPS18,VPS39,ZFP106 chr15 41148880 43231617 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CDAN1,CHAC1,CHP1,DLL4,EHD4,EXD1,GANC,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RHOV,RPAP1,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TTBK2,TYRO3,VPS18,VPS39,ZFP106 chr15 41148880 43332484 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CDAN1,CHAC1,CHP1,DLL4,EHD4,EXD1,GANC,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RHOV,RPAP1,RTF1,SNAP23,SPINT1,SPTBN5,STARD9,TMEM87A,TTBK2,TYRO3,UBR1,VPS18,VPS39,ZFP106 chr15 41210482 41210547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 41213014 41264625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHAC1,DLL4 chr15 41213014 41264625 Gain and loss Pancreatic cancer SNP array 17952125 CHAC1,DLL4 chr15 41213014 41264625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHAC1,DLL4 chr15 41215513 41215545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 41235625 41235867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 41235871 41236019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 41236118 41236158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 54123678 54123756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLIS1 chr1 54123771 54145862 Gain and loss Pancreatic cancer SNP array 17952125 GLIS1 chr15 41242306 41242338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 41264832 41274685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41264832 41274685 Gain and loss Pancreatic cancer SNP array 17952125 INO80 chr15 41264832 41274685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41265946 43397385 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CDAN1,CHP1,EHD4,EXD1,GANC,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RPAP1,RTF1,SNAP23,SPTBN5,STARD9,TMEM87A,TTBK2,TYRO3,UBR1,VPS39,ZFP106 chr15 41276720 41300773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41276720 41300773 Gain and loss Pancreatic cancer SNP array 17952125 INO80 chr15 41276720 41300773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41312648 41346347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41312648 41346347 Gain and loss Pancreatic cancer SNP array 17952125 INO80 chr15 41312648 41346347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr1 54132449 54149347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr1 54132449 54149347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr15 41327170 41327269 Gain and loss Pancreatic cancer SNP array 17952125 INO80 chr15 41327170 41327271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41327172 41327269 Gain and loss Pancreatic cancer SNP array 17952125 INO80 chr15 41347394 41347866 Gain and loss Pancreatic cancer SNP array 17952125 INO80 chr15 41347394 41347866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41355771 41381745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41355771 41381745 Gain and loss Pancreatic cancer SNP array 17952125 INO80 chr15 41355771 41381745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41358966 42879712 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CHP1,EHD4,EXD1,GANC,HAUS2,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RPAP1,RTF1,SNAP23,SPTBN5,STARD9,TMEM87A,TYRO3,VPS39,ZFP106 chr15 41400000 42700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CAPN3,CHP1,EHD4,EXD1,GANC,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RPAP1,RTF1,SPTBN5,TMEM87A,TYRO3,VPS39 chr15 41400000 42700000 Gain and loss Maculopathy Human Mapping 500K Array and SNP Array 5.0 20981449 CAPN3,CHP1,EHD4,EXD1,GANC,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RPAP1,RTF1,SPTBN5,TMEM87A,TYRO3,VPS39 chr15 41400000 42700000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 CAPN3,CHP1,EHD4,EXD1,GANC,INO80,ITPKA,JMJD7,JMJD7-PLA2G4B,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,OIP5,OIP5-AS1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RPAP1,RTF1,SPTBN5,TMEM87A,TYRO3,VPS39 chr1 54140236 54142318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GLIS1 chr15 41404126 41448938 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INO80 chr15 41407266 41410095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41407266 41410095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80 chr15 41407919 41409979 Gain and loss Pancreatic cancer SNP array 17952125 INO80 chr15 41410217 41428900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41410217 41428900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41414598 41433386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41437662 41449550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41437662 41449550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41440508 41449538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41441660 41476006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EXD1 chr15 41447720 41448045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 41450585 41485530 Gain and loss Pancreatic cancer SNP array 17952125 EXD1 chr15 41450605 41501758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXD1 chr15 41450605 41501758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXD1 chr15 41470923 41471217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41470953 41471210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41470953 41471210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41486699 41590028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHP1,EXD1,OIP5-AS1 chr15 41486699 41590028 Gain and loss Pancreatic cancer SNP array 17952125 CHP1,EXD1,OIP5-AS1 chr15 41486699 41590028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHP1,EXD1,OIP5-AS1 chr1 54153183 54153713 Gain and loss Pancreatic cancer SNP array 17952125 GLIS1 chr15 41536880 41537880 Loss Renal cell carcinoma References 21215367 CHP1 chr15 41564289 41565289 Gain Renal cell carcinoma References 21215367 CHP1 chr15 41564378 41565378 Gain Renal cell carcinoma References 21215367 CHP1 chr15 41590448 41611110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OIP5,OIP5-AS1 chr15 41590448 41611110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OIP5,OIP5-AS1 chr15 41597133 41611109 Gain and loss Pancreatic cancer SNP array 17952125 OIP5 chr1 54159822 54184563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr1 54159822 54184563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr15 41606001 41608000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OIP5 chr15 41610450 41795872 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ITPKA,LTK,NDUFAF1,NUSAP1,OIP5,RTF1 chr15 41610450 41795872 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ITPKA,LTK,NDUFAF1,NUSAP1,OIP5,RTF1 chr15 41610450 41935933 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ITPKA,LTK,NDUFAF1,NUSAP1,OIP5,RPAP1,RTF1,TYRO3 chr15 41610450 41935933 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ITPKA,LTK,NDUFAF1,NUSAP1,OIP5,RPAP1,RTF1,TYRO3 chr15 41612952 41764218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDUFAF1,NUSAP1,OIP5,RTF1 chr15 41612952 41764218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFAF1,NUSAP1,OIP5,RTF1 chr15 41612967 41769529 Gain and loss Pancreatic cancer SNP array 17952125 NDUFAF1,NUSAP1,OIP5,RTF1 chr15 41614683 41615683 Loss Renal cell carcinoma References 21215367 OIP5 chr15 41614696 41615696 Loss Renal cell carcinoma References 21215367 OIP5 chr15 41614873 41615873 Gain Renal cell carcinoma References 21215367 OIP5 chr15 41620892 41621892 Gain Renal cell carcinoma References 21215367 OIP5 chr15 41646552 41759755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDUFAF1,NUSAP1,RTF1 chr15 41666037 41759825 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDUFAF1,NUSAP1,RTF1 chr15 41666104 41783872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDUFAF1,NUSAP1,RTF1 chr15 41668524 42845999 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,EHD4,GANC,HAUS2,ITPKA,JMJD7,JMJD7-PLA2G4B,LRRC57,LTK,MAPKBP1,MGA,MIR4310,MIR626,MIR627,NDUFAF1,NUSAP1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RPAP1,RTF1,SNAP23,SPTBN5,TMEM87A,TYRO3,VPS39,ZFP106 chr15 41672410 41680132 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NDUFAF1,NUSAP1 chr15 41672544 41678896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUSAP1 chr15 41672544 41678896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUSAP1 chr15 41673546 41678874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41676247 41782515 Loss Normal 244K array 17666407 NDUFAF1,RTF1 chr15 41679053 41698290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDUFAF1 chr15 41679053 41698290 Gain and loss Pancreatic cancer SNP array 17952125 NDUFAF1 chr15 41679053 41698290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFAF1 chr15 41680132 41682099 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NDUFAF1 chr15 41680364 41725580 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NDUFAF1,RTF1 chr15 41680364 41801431 Deletion Normal Affymetrix 6.0 microarrays 20967226 ITPKA,LTK,NDUFAF1,RTF1 chr15 41682033 41682138 Gain and loss Pancreatic cancer SNP array 17952125 NDUFAF1 chr15 41682033 41682138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFAF1 chr15 41682034 41682138 Gain and loss Pancreatic cancer SNP array 17952125 NDUFAF1 chr15 41682099 41702041 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NDUFAF1 chr15 41693172 41693263 Gain and loss Pancreatic cancer SNP array 17952125 NDUFAF1 chr15 41693172 41693263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFAF1 chr15 41702041 41726098 Gain or loss Normal Birdsuite, version 1.5.2 22087296 RTF1 chr15 41707993 41747608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTF1 chr15 41710053 41728335 Gain and loss Pancreatic cancer SNP array 17952125 RTF1 chr15 41710063 41747192 Microdeletion infertile References 22138898 RTF1 chr15 41716631 41840909 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ITPKA,LTK,RPAP1,RTF1 chr15 41717122 41717228 Gain and loss Pancreatic cancer SNP array 17952125 RTF1 chr15 41717122 41717228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTF1 chr15 41726098 41763710 Gain or loss Normal Birdsuite, version 1.5.2 22087296 RTF1 chr15 41728613 41728770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTF1 chr15 41743085 41763847 Gain and loss Pancreatic cancer SNP array 17952125 RTF1 chr15 41763710 41775845 Gain or loss Normal Birdsuite, version 1.5.2 22087296 RTF1 chr15 41772376 41778712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTF1 chr15 41772376 41778712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTF1 chr15 41773378 41778690 Gain and loss Pancreatic cancer SNP array 17952125 RTF1 chr15 41775845 41778306 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 41778306 41783180 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 41778869 41797752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITPKA,LTK chr15 41778869 41797752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKA,LTK chr15 41781853 41781960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41781853 41781960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41781853 41781961 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41792634 41792725 Gain and loss Pancreatic cancer SNP array 17952125 ITPKA chr15 41792634 41792725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKA chr15 41803811 41851712 Loss Normal 244K array 17666407 LTK,RPAP1,TYRO3 chr15 41813669 41813775 Gain and loss Pancreatic cancer SNP array 17952125 RPAP1 chr15 41813669 41813775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPAP1 chr15 41815449 41825788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPAP1 chr15 41815449 41825788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPAP1 chr15 41817064 42797309 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,EHD4,GANC,JMJD7,JMJD7-PLA2G4B,MAPKBP1,MGA,MIR4310,MIR626,MIR627,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RPAP1,SNAP23,SPTBN5,TMEM87A,TYRO3,VPS39,ZFP106 chr15 41823382 41824382 Gain Renal cell carcinoma References 21215367 RPAP1 chr15 41823470 41824470 Gain Renal cell carcinoma References 21215367 RPAP1 chr15 41825882 41852093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPAP1,TYRO3 chr15 41825882 41852093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPAP1,TYRO3 chr15 41825928 41851031 Gain and loss Pancreatic cancer SNP array 17952125 RPAP1 chr1 54184338 54206429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr1 54184338 54206429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLIS1 chr15 41852107 41857033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TYRO3 chr15 41852107 41857033 Gain and loss Pancreatic cancer SNP array 17952125 TYRO3 chr15 41852107 41857033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TYRO3 chr15 41855501 41857000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TYRO3 chr15 41856590 41881572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TYRO3 chr15 41856590 41881572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TYRO3 chr15 41871332 41881362 Gain and loss Pancreatic cancer SNP array 17952125 TYRO3 chr15 41873149 41873249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41873652 41888067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41873652 41888067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41873664 41879587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41884025 41904243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41884025 41904243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41884025 41904243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41904196 41934102 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 41906470 41946508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41906470 41946508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41906501 41946508 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41922466 41922850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41924350 41926144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 41924495 41926178 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 41943383 41943495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 41943385 41943495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41943386 41943495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 41950257 42274700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHD4,JMJD7,JMJD7-PLA2G4B,MAPKBP1,MGA,MIR4310,MIR626,PLA2G4B,PLA2G4E,SPTBN5 chr15 41950257 42274700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHD4,JMJD7,JMJD7-PLA2G4B,MAPKBP1,MGA,MIR4310,MIR626,PLA2G4B,PLA2G4E,SPTBN5 chr15 41952766 42274544 Gain and loss Pancreatic cancer SNP array 17952125 EHD4,JMJD7,JMJD7-PLA2G4B,MAPKBP1,MGA,MIR4310,MIR626,PLA2G4B,PLA2G4E,SPTBN5 chr15 41955339 41955734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGA chr15 41966316 41982044 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MGA chr15 41996922 41997022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGA chr15 42030985 43729379 LOH Normal High-resolution SNP genotyping 21211785 ADAL,CAPN3,CCNDBP1,CDAN1,EHD4,EPB42,GANC,HAUS2,JMJD7,JMJD7-PLA2G4B,LCMT2,LRRC57,MAPKBP1,MGA,MIR4310,MIR627,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,RNU6-28,SNAP23,SPTBN5,STARD9,TGM5,TGM7,TMEM62,TMEM87A,TP53BP1,TTBK2,TUBGCP4,UBR1,VPS39,ZFP106,ZSCAN29 chr15 42032395 42032445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGA chr15 42068587 42069656 Gain and loss Pancreatic cancer SNP array 17952125 MAPKBP1 chr15 42069116 42069423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPKBP1 chr15 42083134 42083234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPKBP1 chr1 54209375 54231132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 54213236 54214360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 42143001 42143803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTBN5 chr15 42143145 42143807 Gain and loss Pancreatic cancer SNP array 17952125 SPTBN5 chr15 42148385 42148485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTBN5 chr1 54220482 54220514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 42219866 42219945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHD4 chr1 54228282 54228371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 42294695 42317920 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLA2G4E chr1 54231295 54277437 Gain and loss Pancreatic cancer SNP array 17952125 TMEM48 chr15 42334651 43230864 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CDAN1,GANC,HAUS2,LRRC57,MIR627,PLA2G4D,PLA2G4E,PLA2G4F,SNAP23,STARD9,TMEM87A,TTBK2,VPS39,ZFP106 chr15 42350178 42386578 Loss Autism qPCR 20531469 PLA2G4D chr15 42351332 42351510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 42363065 42363143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLA2G4D chr15 42363249 42363409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4D chr15 42364442 42364542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLA2G4D chr15 42365790 42366106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLA2G4D chr15 42368221 42495247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR627,PLA2G4D,PLA2G4F,VPS39 chr15 42368221 42495247 Gain and loss Pancreatic cancer SNP array 17952125 MIR627,PLA2G4D,PLA2G4F,VPS39 chr15 42368221 42495247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR627,PLA2G4D,PLA2G4F,VPS39 chr15 42377074 42377564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4D chr15 42382407 42382585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4D chr15 42386620 42387253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4D chr15 42390321 42390469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 42391165 42391343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 42394497 43220441 LOH Normal High-resolution SNP genotyping 21211785 CAPN3,CDAN1,GANC,HAUS2,LRRC57,MIR627,PLA2G4F,SNAP23,STARD9,TMEM87A,TTBK2,VPS39,ZFP106 chr15 42401672 42401849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 42440627 42440727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLA2G4F chr15 42449783 42449883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 42468491 42598658 Copy number Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 GANC,MIR627,TMEM87A,VPS39 chr1 54247094 54256444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM48 chr1 54247094 54256444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM48 chr1 54248000 54248074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM48 chr15 42506871 42606722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GANC,TMEM87A chr15 42506871 42606722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GANC,TMEM87A chr15 42506914 42540801 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM87A chr15 42507119 42604972 Gain and loss Pancreatic cancer SNP array 17952125 GANC,TMEM87A chr15 42546116 43812588 Gain Prostate cancer Array CGH 18632612 ADAL,CAPN3,CCNDBP1,CDAN1,EPB42,GANC,HAUS2,LCMT2,LRRC57,MAP1A,RNU6-28,SNAP23,STARD9,TGM5,TGM7,TMEM62,TMEM87A,TP53BP1,TTBK2,TUBGCP4,UBR1,ZFP106,ZSCAN29 chr15 42609135 42939663 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CAPN3,GANC,HAUS2,LRRC57,SNAP23,STARD9,ZFP106 chr15 42613996 42616413 Gain and loss Pancreatic cancer SNP array 17952125 GANC chr15 42613998 42616413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GANC chr15 42613998 42616413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GANC chr15 42616558 42642293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GANC chr15 42616558 42642293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GANC chr15 42616685 42641576 Gain and loss Pancreatic cancer SNP array 17952125 GANC chr15 42621650 42621740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GANC chr15 42630355 42631355 Loss Renal cell carcinoma References 21215367 GANC chr15 42632397 42633397 Loss Renal cell carcinoma References 21215367 GANC chr15 42642187 42743168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPN3,GANC,ZFP106 chr15 42642187 42743168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN3,GANC,ZFP106 chr15 42642192 42743138 Gain and loss Pancreatic cancer SNP array 17952125 CAPN3,GANC,ZFP106 chr15 42643401 42644401 Loss Renal cell carcinoma References 21215367 GANC chr15 42645429 42646429 Gain Renal cell carcinoma References 21215367 GANC chr15 42674253 42675253 Loss Renal cell carcinoma References 21215367 CAPN3 chr15 42676951 42870306 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CAPN3,HAUS2,LRRC57,SNAP23,STARD9,ZFP106 chr15 42683454 42728383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAPN3,ZFP106 chr1 54269935 54291765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM48 chr1 54269935 54291765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM48 chr15 42700000 100338915 Copy number Cancer ICA method 16751803 AAGAB,ABHD2,ACAN,ACSBG1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP8B4,B2M,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BNC1,BNIP2,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf43,C15orf44,C15orf48,C15orf59,C15orf60,C15orf61,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DMXL2,DNAJA4,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EID1,EIF3J,ELL3,EPB42,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM96A,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FOXB1,FRMD5,FSD2,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GALK2,GATM,GCNT3,GCOM1,GDPGP1,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645212,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,LRRC57,LYSMD2,LYSMD4,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGC15885,MIR1179,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR2116,MIR3175,MIR3529,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MNS1,MORF4L1,MPI,MRPL46,MRPS11,MTFMT,MTHFS,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDUFAF4P1,NEDD4,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,OAZ2,ODF3L1,ONECUT1,PAQR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGPEP1L,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PPIP5K1,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RLBP1,RNF111,RNU6-28,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RSL24D1,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPPL2A,SQRDL,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TMEM62,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,UBR1,ULK3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS33B,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,ZFAND6,ZFP106,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 42700000 47600000 Copy number Normal - 21701786 ADAL,B2M,BLOC1S6,C15orf43,C15orf48,C15orf63,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CKMT1A,CKMT1B,CTDSPL2,DUOX1,DUOX2,DUOXA1,DUOXA2,EIF3J,ELL3,EPB42,FRMD5,GATM,HAUS2,HMGN2P46,LCMT2,LOC145663,LOC645212,LRRC57,MAP1A,MFAP1,MIR1282,MIR147B,PATL2,PDIA3,PIN4P1,PPIP5K1,RNU6-28,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SQRDL,STARD9,STRC,TGM5,TGM7,TMEM62,TP53BP1,TRIM69,TTBK2,TUBGCP4,UBR1,WDR76,ZFP106,ZSCAN29 chr15 42700000 47600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAL,B2M,BLOC1S6,C15orf43,C15orf48,C15orf63,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CKMT1A,CKMT1B,CTDSPL2,DUOX1,DUOX2,DUOXA1,DUOXA2,EIF3J,ELL3,EPB42,FRMD5,GATM,HAUS2,HMGN2P46,LCMT2,LOC145663,LOC645212,LRRC57,MAP1A,MFAP1,MIR1282,MIR147B,PATL2,PDIA3,PIN4P1,PPIP5K1,RNU6-28,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SQRDL,STARD9,STRC,TGM5,TGM7,TMEM62,TP53BP1,TRIM69,TTBK2,TUBGCP4,UBR1,WDR76,ZFP106,ZSCAN29 chr15 42700000 55800000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ADAL,AP4E1,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,C15orf43,C15orf48,C15orf63,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNDBP1,CCPG1,CDAN1,CEP152,CKMT1A,CKMT1B,COPS2,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,ELL3,EPB42,FAM214A,FAM227B,FBN1,FGF7,FLJ10038,FLJ27352,FRMD5,GABPB1,GABPB1-AS1,GALK2,GATM,GLDN,GNB5,HAUS2,HDC,HMGN2P46,LCMT2,LEO1,LOC145663,LOC645212,LRRC57,LYSMD2,MAP1A,MAPK6,MFAP1,MIR1266,MIR1282,MIR147B,MIR4712,MIR4713,MIR4716,MIR628,MYEF2,MYO5A,MYO5C,NDUFAF4P1,ONECUT1,PATL2,PDIA3,PIGB,PIN4P1,PPIP5K1,RAB27A,RNU6-28,RSL24D1,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPPL2A,SQRDL,STARD9,STRC,TGM5,TGM7,TMEM62,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM7,TTBK2,TUBGCP4,UBR1,UNC13C,USP50,USP8,WDR72,WDR76,ZFP106,ZSCAN29 chr15 42700000 55800000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ADAL,AP4E1,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,C15orf43,C15orf48,C15orf63,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNDBP1,CCPG1,CDAN1,CEP152,CKMT1A,CKMT1B,COPS2,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,ELL3,EPB42,FAM214A,FAM227B,FBN1,FGF7,FLJ10038,FLJ27352,FRMD5,GABPB1,GABPB1-AS1,GALK2,GATM,GLDN,GNB5,HAUS2,HDC,HMGN2P46,LCMT2,LEO1,LOC145663,LOC645212,LRRC57,LYSMD2,MAP1A,MAPK6,MFAP1,MIR1266,MIR1282,MIR147B,MIR4712,MIR4713,MIR4716,MIR628,MYEF2,MYO5A,MYO5C,NDUFAF4P1,ONECUT1,PATL2,PDIA3,PIGB,PIN4P1,PPIP5K1,RAB27A,RNU6-28,RSL24D1,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPPL2A,SQRDL,STARD9,STRC,TGM5,TGM7,TMEM62,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM7,TTBK2,TUBGCP4,UBR1,UNC13C,USP50,USP8,WDR72,WDR76,ZFP106,ZSCAN29 chr15 42700000 57100000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ADAL,AP4E1,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,C15orf43,C15orf48,C15orf63,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNDBP1,CCPG1,CDAN1,CEP152,CKMT1A,CKMT1B,COPS2,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,ELL3,EPB42,FAM214A,FAM227B,FBN1,FGF7,FLJ10038,FLJ27352,FRMD5,GABPB1,GABPB1-AS1,GALK2,GATM,GLDN,GNB5,HAUS2,HDC,HMGN2P46,LCMT2,LEO1,LOC145663,LOC645212,LRRC57,LYSMD2,MAP1A,MAPK6,MFAP1,MIR1266,MIR1282,MIR147B,MIR4712,MIR4713,MIR4716,MIR628,MNS1,MYEF2,MYO5A,MYO5C,NDUFAF4P1,NEDD4,ONECUT1,PATL2,PDIA3,PIGB,PIN4P1,PPIP5K1,PRTG,PYGO1,RAB27A,RFX7,RNU6-28,RSL24D1,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SNAP23,SORD,SPATA5L1,SPG11,SPPL2A,SQRDL,STARD9,STRC,TEX9,TGM5,TGM7,TMEM62,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM7,TTBK2,TUBGCP4,UBR1,UNC13C,USP50,USP8,WDR72,WDR76,ZFP106,ZNF280D,ZSCAN29 chr15 42700000 61500000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 ADAL,ADAM10,ALDH1A2,ANXA2,AP4E1,AQP9,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,BNIP2,C15orf43,C15orf48,C15orf63,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNB2,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CKMT1A,CKMT1B,COPS2,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,ELL3,EPB42,FAM214A,FAM227B,FAM63B,FAM81A,FBN1,FGF7,FLJ10038,FLJ27352,FOXB1,FRMD5,GABPB1,GABPB1-AS1,GALK2,GATM,GCNT3,GCOM1,GLDN,GNB5,GTF2A2,HAUS2,HDC,HMGN2P46,HSP90AB4P,LCMT2,LDHAL6B,LEO1,LIPC,LOC145663,LOC145783,LOC283663,LOC645212,LRRC57,LYSMD2,MAP1A,MAPK6,MFAP1,MIR1266,MIR1282,MIR147B,MIR2116,MIR4712,MIR4713,MIR4716,MIR628,MNS1,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NDUFAF4P1,NEDD4,ONECUT1,PATL2,PDIA3,PIGB,PIN4P1,POLR2M,PPIP5K1,PRTG,PYGO1,RAB27A,RFX7,RNF111,RNU6-28,RORA,RSL24D1,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLTM,SNAP23,SORD,SPATA5L1,SPG11,SPPL2A,SQRDL,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,TMEM62,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TRIM69,TRPM7,TTBK2,TUBGCP4,UBR1,UNC13C,USP50,USP8,WDR72,WDR76,ZFP106,ZNF280D,ZSCAN29 chr15 42700000 65300000 Copy number Breast cancer - 16272173 ADAL,ADAM10,ALDH1A2,ANKDD1A,ANXA2,AP4E1,APH1B,AQP9,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,BNIP2,C15orf43,C15orf48,C15orf63,C2CD4A,C2CD4B,CA12,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNB2,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CKMT1A,CKMT1B,COPS2,CSNK1G1,CTDSPL2,CTXN2,CYP19A1,DAPK2,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,ELL3,EPB42,FAM214A,FAM227B,FAM63B,FAM81A,FAM96A,FBN1,FBXL22,FGF7,FLJ10038,FLJ27352,FOXB1,FRMD5,GABPB1,GABPB1-AS1,GALK2,GATM,GCNT3,GCOM1,GLDN,GNB5,GTF2A2,HAUS2,HDC,HERC1,HMGN2P46,HSP90AB4P,KIAA0101,LACTB,LCMT2,LDHAL6B,LEO1,LIPC,LOC100130855,LOC145663,LOC145783,LOC283663,LOC645212,LRRC57,LYSMD2,MAP1A,MAPK6,MFAP1,MGC15885,MIR1266,MIR1272,MIR1282,MIR147B,MIR190A,MIR2116,MIR4712,MIR4713,MIR4716,MIR628,MNS1,MTFMT,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NDUFAF4P1,NEDD4,OAZ2,ONECUT1,PATL2,PDIA3,PIF1,PIGB,PIN4P1,PLEKHO2,POLR2M,PPIB,PPIP5K1,PRTG,PYGO1,RAB27A,RAB8B,RBPMS2,RFX7,RNF111,RNU6-28,RORA,RPS27L,RSL24D1,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLTM,SNAP23,SNX1,SNX22,SORD,SPATA5L1,SPG11,SPG21,SPPL2A,SQRDL,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,TLN2,TMEM62,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM7,TTBK2,TUBGCP4,UBR1,UNC13C,USP3,USP50,USP8,VPS13C,WDR72,WDR76,ZFP106,ZNF280D,ZNF609,ZSCAN29 chr15 42700000 65300000 Deletion Abnormal phenotypes Array-CGH 18644119 ADAL,ADAM10,ALDH1A2,ANKDD1A,ANXA2,AP4E1,APH1B,AQP9,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,BNIP2,C15orf43,C15orf48,C15orf63,C2CD4A,C2CD4B,CA12,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNB2,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CKMT1A,CKMT1B,COPS2,CSNK1G1,CTDSPL2,CTXN2,CYP19A1,DAPK2,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,ELL3,EPB42,FAM214A,FAM227B,FAM63B,FAM81A,FAM96A,FBN1,FBXL22,FGF7,FLJ10038,FLJ27352,FOXB1,FRMD5,GABPB1,GABPB1-AS1,GALK2,GATM,GCNT3,GCOM1,GLDN,GNB5,GTF2A2,HAUS2,HDC,HERC1,HMGN2P46,HSP90AB4P,KIAA0101,LACTB,LCMT2,LDHAL6B,LEO1,LIPC,LOC100130855,LOC145663,LOC145783,LOC283663,LOC645212,LRRC57,LYSMD2,MAP1A,MAPK6,MFAP1,MGC15885,MIR1266,MIR1272,MIR1282,MIR147B,MIR190A,MIR2116,MIR4712,MIR4713,MIR4716,MIR628,MNS1,MTFMT,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NDUFAF4P1,NEDD4,OAZ2,ONECUT1,PATL2,PDIA3,PIF1,PIGB,PIN4P1,PLEKHO2,POLR2M,PPIB,PPIP5K1,PRTG,PYGO1,RAB27A,RAB8B,RBPMS2,RFX7,RNF111,RNU6-28,RORA,RPS27L,RSL24D1,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLTM,SNAP23,SNX1,SNX22,SORD,SPATA5L1,SPG11,SPG21,SPPL2A,SQRDL,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,TLN2,TMEM62,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM7,TTBK2,TUBGCP4,UBR1,UNC13C,USP3,USP50,USP8,VPS13C,WDR72,WDR76,ZFP106,ZNF280D,ZNF609,ZSCAN29 chr15 42700000 65300000 Gain Hepatocellular carcinoma Array CGH 16750200 ADAL,ADAM10,ALDH1A2,ANKDD1A,ANXA2,AP4E1,APH1B,AQP9,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,BNIP2,C15orf43,C15orf48,C15orf63,C2CD4A,C2CD4B,CA12,CAPN3,CASC4,CATSPER2,CATSPER2P1,CCNB2,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CKMT1A,CKMT1B,COPS2,CSNK1G1,CTDSPL2,CTXN2,CYP19A1,DAPK2,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,ELL3,EPB42,FAM214A,FAM227B,FAM63B,FAM81A,FAM96A,FBN1,FBXL22,FGF7,FLJ10038,FLJ27352,FOXB1,FRMD5,GABPB1,GABPB1-AS1,GALK2,GATM,GCNT3,GCOM1,GLDN,GNB5,GTF2A2,HAUS2,HDC,HERC1,HMGN2P46,HSP90AB4P,KIAA0101,LACTB,LCMT2,LDHAL6B,LEO1,LIPC,LOC100130855,LOC145663,LOC145783,LOC283663,LOC645212,LRRC57,LYSMD2,MAP1A,MAPK6,MFAP1,MGC15885,MIR1266,MIR1272,MIR1282,MIR147B,MIR190A,MIR2116,MIR4712,MIR4713,MIR4716,MIR628,MNS1,MTFMT,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NDUFAF4P1,NEDD4,OAZ2,ONECUT1,PATL2,PDIA3,PIF1,PIGB,PIN4P1,PLEKHO2,POLR2M,PPIB,PPIP5K1,PRTG,PYGO1,RAB27A,RAB8B,RBPMS2,RFX7,RNF111,RNU6-28,RORA,RPS27L,RSL24D1,SCG3,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLTM,SNAP23,SNX1,SNX22,SORD,SPATA5L1,SPG11,SPG21,SPPL2A,SQRDL,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,TLN2,TMEM62,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM7,TTBK2,TUBGCP4,UBR1,UNC13C,USP3,USP50,USP8,VPS13C,WDR72,WDR76,ZFP106,ZNF280D,ZNF609,ZSCAN29 chr1 54272656 54273109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM48 chr15 42739696 42739796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFP106 chr15 42741826 42777137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZFP106 chr15 42745222 42756378 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZFP106 chr15 42745234 42755053 Gain and loss Pancreatic cancer SNP array 17952125 ZFP106 chr15 42756160 43210134 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDAN1,HAUS2,LRRC57,SNAP23,STARD9,TTBK2 chr1 54277662 54277918 Gain and loss Pancreatic cancer SNP array 17952125 TMEM48 chr15 42776827 42776920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 42790977 42797649 Gain and loss Pancreatic cancer SNP array 17952125 SNAP23 chr15 42790977 42813611 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNAP23 chr15 42790977 42813611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAP23 chr15 42815852 42863028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAUS2,LRRC57,SNAP23 chr15 42815852 42863028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAUS2,LRRC57,SNAP23 chr15 42816014 42847317 Gain and loss Pancreatic cancer SNP array 17952125 HAUS2,LRRC57,SNAP23 chr1 54282162 54282554 Gain and loss Pancreatic cancer SNP array 17952125 TMEM48 chr15 42846643 42865900 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 HAUS2 chr15 42858869 42859869 Loss Cancer Human 24 color M-FISH 21215367 HAUS2 chr15 42858869 42859869 Loss Renal cell carcinoma References 21215367 HAUS2 chr15 42858926 42859926 Loss Renal cell carcinoma References 21215367 HAUS2 chr15 42859260 42860260 Gain Renal cell carcinoma References 21215367 HAUS2 chr15 42859266 42860266 Gain Renal cell carcinoma References 21215367 HAUS2 chr15 42861993 44084118 LOH Normal High-resolution SNP genotyping 21211785 ADAL,CATSPER2,CATSPER2P1,CCNDBP1,CDAN1,CKMT1A,CKMT1B,ELL3,EPB42,HAUS2,LCMT2,MAP1A,PDIA3,PPIP5K1,RNU6-28,SERF2,STARD9,STRC,TGM5,TGM7,TMEM62,TP53BP1,TTBK2,TUBGCP4,UBR1,ZSCAN29 chr15 42881899 43510847 LOH Normal High-resolution SNP genotyping 21211785 CCNDBP1,CDAN1,EPB42,STARD9,TMEM62,TTBK2,UBR1 chr15 42882841 43738922 LOH Normal High-resolution SNP genotyping 21211785 ADAL,CCNDBP1,CDAN1,EPB42,LCMT2,RNU6-28,STARD9,TGM5,TGM7,TMEM62,TP53BP1,TTBK2,TUBGCP4,UBR1,ZSCAN29 chr15 42885739 42886739 Gain Renal cell carcinoma References 21215367 STARD9 chr15 42885773 42886773 Gain Renal cell carcinoma References 21215367 STARD9 chr15 42906576 42927056 Gain and loss Pancreatic cancer SNP array 17952125 STARD9 chr15 42916510 42940037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STARD9 chr1 54291861 54350780 Deletion Intellectual disability 100k SNP Array 21811512 TMEM48,YIPF1 chr1 54291862 54338004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM48,YIPF1 chr1 54291862 54338004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM48,YIPF1 chr15 42919148 42933132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STARD9 chr15 42923102 42923212 Gain and loss Pancreatic cancer SNP array 17952125 STARD9 chr15 42925294 42940427 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STARD9 chr15 42928665 43054398 Indels Normal Affymetrix and Illumina arrays 20811451 CDAN1,STARD9,TTBK2 chr15 42929307 42951638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STARD9 chr15 42941406 42947385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STARD9 chr15 42954761 42954861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD9 chr15 42956305 42956405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD9 chr15 42964106 42964270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STARD9 chr15 42964106 42964271 Gain and loss Pancreatic cancer SNP array 17952125 STARD9 chr15 42969054 42969154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD9 chr15 43007090 43007193 Gain and loss Pancreatic cancer SNP array 17952125 STARD9 chr15 43007095 43007193 Gain and loss Pancreatic cancer SNP array 17952125 STARD9 chr15 43035113 43035213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 43036192 43058711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43036192 43058711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43036192 43058723 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43042320 43042418 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43042320 43042423 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43050880 43057665 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 TTBK2 chr15 43053048 43053151 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43082353 43082518 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43082354 43082518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43100971 46687878 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAL,B2M,BLOC1S6,C15orf43,C15orf48,C15orf63,CASC4,CATSPER2,CATSPER2P1,CCNDBP1,CKMT1A,CKMT1B,CTDSPL2,DUOX1,DUOX2,DUOXA1,DUOXA2,EIF3J,ELL3,EPB42,FRMD5,GATM,HMGN2P46,LCMT2,LOC145663,LOC645212,MAP1A,MFAP1,MIR1282,MIR147B,PATL2,PDIA3,PIN4P1,PPIP5K1,RNU6-28,SERF2,SERF2-C15ORF63,SERINC4,SHF,SLC28A2,SLC30A4,SORD,SPATA5L1,SPG11,SQRDL,STRC,TGM5,TGM7,TMEM62,TP53BP1,TRIM69,TTBK2,TUBGCP4,UBR1,WDR76,ZSCAN29 chr15 43102644 43154330 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43102696 43154330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43102696 43154330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43106192 43113430 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TTBK2 chr15 43107224 43720958 LOH Normal High-resolution SNP genotyping 21211785 ADAL,CCNDBP1,EPB42,LCMT2,RNU6-28,TGM5,TGM7,TMEM62,TP53BP1,TTBK2,TUBGCP4,UBR1,ZSCAN29 chr15 43117488 43293012 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 TTBK2,UBR1 chr15 43125918 43156734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTBK2 chr15 43126595 43126705 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43134391 43134491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTBK2 chr15 43148421 43738803 LOH Normal High-resolution SNP genotyping 21211785 ADAL,CCNDBP1,EPB42,LCMT2,RNU6-28,TGM5,TGM7,TMEM62,TP53BP1,TTBK2,TUBGCP4,UBR1,ZSCAN29 chr15 43148421 43818293 LOH Normal High-resolution SNP genotyping 21211785 ADAL,CCNDBP1,EPB42,LCMT2,MAP1A,RNU6-28,TGM5,TGM7,TMEM62,TP53BP1,TTBK2,TUBGCP4,UBR1,ZSCAN29 chr15 43172140 43193829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43172140 43193829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43172145 43192901 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43173501 43268000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTBK2,UBR1 chr15 43174689 43962859 LOH Normal High-resolution SNP genotyping 21211785 ADAL,CATSPER2,CCNDBP1,CKMT1B,EPB42,LCMT2,MAP1A,PPIP5K1,RNU6-28,STRC,TGM5,TGM7,TMEM62,TP53BP1,TTBK2,TUBGCP4,UBR1,ZSCAN29 chr15 43193816 43197591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43193816 43197591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43193964 43197591 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43196864 43209367 Copy number Autism Illumina Humanhap300 Beadchips 19492091 TTBK2 chr15 43196864 43209367 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2 chr15 43196980 43209349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43196980 43209349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTBK2 chr15 43209484 43245066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTBK2,UBR1 chr15 43209484 43245066 Gain and loss Pancreatic cancer SNP array 17952125 TTBK2,UBR1 chr15 43209484 43245066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTBK2,UBR1 chr1 54321086 54373411 Gain and loss Pancreatic cancer SNP array 17952125 DIO1,YIPF1 chr15 43246703 43280665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBR1 chr15 43246703 43280665 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 UBR1 chr15 43246703 43280665 Gain and loss Pancreatic cancer SNP array 17952125 UBR1 chr15 43246703 43280665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR1 chr15 43273009 43274009 Gain Renal cell carcinoma References 21215367 UBR1 chr15 43276379 43277379 Loss Renal cell carcinoma References 21215367 UBR1 chr15 43276744 43790363 LOH Normal High-resolution SNP genotyping 21211785 ADAL,CCNDBP1,EPB42,LCMT2,RNU6-28,TGM5,TGM7,TMEM62,TP53BP1,TUBGCP4,UBR1,ZSCAN29 chr1 54328117 54328354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YIPF1 chr15 43294396 43294523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR1 chr15 43300672 43300770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBR1 chr15 43306866 43308623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBR1 chr15 43331725 43355425 Amplification Intellectual disability 100k SNP Array 21811512 UBR1 chr15 43331725 43355425 Deletion Intellectual disability 100k SNP Array 21811512 UBR1 chr15 43331726 43355425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBR1 chr15 43331726 43355425 Gain and loss Pancreatic cancer SNP array 17952125 UBR1 chr15 43331726 43355425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR1 chr15 43336557 45028210 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAL,B2M,C15orf63,CASC4,CATSPER2,CATSPER2P1,CCNDBP1,CKMT1A,CKMT1B,CTDSPL2,EIF3J,ELL3,EPB42,FRMD5,LCMT2,LOC645212,MAP1A,MFAP1,MIR1282,PATL2,PDIA3,PIN4P1,PPIP5K1,RNU6-28,SERF2,SERF2-C15ORF63,SERINC4,SPG11,STRC,TGM5,TGM7,TMEM62,TP53BP1,TUBGCP4,UBR1,WDR76,ZSCAN29 chr15 43357330 43357475 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBR1 chr15 43362187 43362287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBR1 chr15 43400604 43400876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 43400604 43400876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 54342556 54344338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YIPF1 chr15 43433515 43467269 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM62 chr15 43434269 43434375 Gain and loss Pancreatic cancer SNP array 17952125 TMEM62 chr15 43440613 43458272 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TMEM62 chr15 43440614 43458272 Copy number Autism exome sequencing 22495311 TMEM62 chr15 43440616 43458034 Gain and loss Pancreatic cancer SNP array 17952125 TMEM62 chr15 43440616 43458272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM62 chr15 43440616 43458272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM62 chr15 43463843 43465102 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM62 chr15 43481501 43483000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCNDBP1 chr15 43481871 43613972 Gain and loss Pancreatic cancer SNP array 17952125 CCNDBP1,EPB42,TGM5,TGM7 chr15 43481877 43500905 Amplification Intellectual disability 100k SNP Array 21811512 CCNDBP1,EPB42 chr15 43481878 43613978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNDBP1,EPB42,TGM5,TGM7 chr15 43481878 43613978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNDBP1,EPB42,TGM5,TGM7 chr15 43486131 43486231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCNDBP1 chr15 43506693 43507693 Loss Renal cell carcinoma References 21215367 EPB42 chr15 43510055 43512937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB42 chr15 43510055 43512937 Gain and loss Pancreatic cancer SNP array 17952125 EPB42 chr15 43510055 43512937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB42 chr15 43512540 43512619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB42 chr15 43524388 43536044 Loss Normal Birdsuite, version 1.5.2 22087296 TGM5 chr15 43525954 43526015 Gain and loss Pancreatic cancer SNP array 17952125 TGM5 chr15 43525954 43526015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM5 chr15 43537192 43571117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TGM5,TGM7 chr15 43543243 43543343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGM5 chr1 54355501 55094000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACOT11,CDCP2,CYB5RL,DIO1,FAM151A,HSPB11,LDLRAD1,LRRC42,MIR4781,MRPL37,SSBP3,TCEANC2,TMEM59 chr15 43561974 43602294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGM7 chr15 43561974 43602294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM7 chr15 43564576 43602294 Gain and loss Pancreatic cancer SNP array 17952125 TGM7 chr15 43571076 43571177 Gain and loss Pancreatic cancer SNP array 17952125 TGM7 chr15 43571076 43571177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM7 chr15 43590626 43636220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAL,LCMT2,TGM7 chr15 43590626 43636220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAL,LCMT2,TGM7 chr15 43600000 44800000 Deletion Mental retardation array CGH 17124404 ADAL,C15orf63,CASC4,CATSPER2,CATSPER2P1,CKMT1A,CKMT1B,CTDSPL2,ELL3,FRMD5,LCMT2,MAP1A,MFAP1,MIR1282,PDIA3,PIN4P1,PPIP5K1,RNU6-28,SERF2,SERF2-C15ORF63,SERINC4,STRC,TP53BP1,TUBGCP4,WDR76,ZSCAN29 chr15 43616740 43616867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 43616740 43616867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 43633009 43633094 Gain and loss Pancreatic cancer SNP array 17952125 ADAL chr15 43633009 43633094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAL chr15 43634973 43635461 Gain and loss Pancreatic cancer SNP array 17952125 ADAL chr15 43655702 43655802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZSCAN29 chr15 43666708 43689201 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RNU6-28,TUBGCP4 chr15 43666709 43689200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNU6-28,TUBGCP4 chr15 43666709 43689200 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-28,TUBGCP4 chr15 43666709 43689200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU6-28,TUBGCP4 chr15 43671474 43671572 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP4 chr15 43671474 43671573 Gain and loss Pancreatic cancer SNP array 17952125 TUBGCP4 chr15 43671474 43671575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBGCP4 chr15 43699411 43802707 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 RNU6-28,TP53BP1 chr15 43714544 43770770 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-28,TP53BP1 chr15 43714548 43770770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNU6-28,TP53BP1 chr15 43714548 43770770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU6-28,TP53BP1 chr15 43738213 44329693 LOH Normal High-resolution SNP genotyping 21211785 C15orf63,CATSPER2,CATSPER2P1,CKMT1A,CKMT1B,ELL3,FRMD5,MAP1A,MFAP1,MIR1282,PDIA3,PIN4P1,PPIP5K1,RNU6-28,SERF2,SERF2-C15ORF63,SERINC4,STRC,TP53BP1,WDR76 chr15 43769884 43770349 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RNU6-28,TP53BP1 chr1 54377256 54433985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPB11,LRRC42 chr1 54377256 54433985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPB11,LRRC42 chr1 54377861 54396075 Gain and loss Pancreatic cancer SNP array 17952125 HSPB11 chr15 43808575 43808665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNU6-28 chr15 43811646 43815483 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MAP1A,RNU6-28 chr15 43813322 43813410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP1A,RNU6-28 chr15 43817778 43848313 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP1A,PPIP5K1,RNU6-28 chr1 54384441 54387770 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 HSPB11 chr15 43855257 43855606 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPIP5K1,RNU6-28 chr15 43887691 43887773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CKMT1B,RNU6-28 chr15 43890827 44620860 LOH Normal High-resolution SNP genotyping 21211785 C15orf63,CASC4,CATSPER2,CATSPER2P1,CKMT1A,CKMT1B,ELL3,FRMD5,MFAP1,MIR1282,PDIA3,PIN4P1,RNU6-28,SERF2,SERF2-C15ORF63,SERINC4,STRC,WDR76 chr15 43934925 44070720 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CATSPER2,CATSPER2P1,CKMT1A,ELL3,PDIA3,SERF2 chr15 43971639 43971729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 54404184 54583833 Gain and loss Pancreatic cancer SNP array 17952125 HSPB11,LDLRAD1,LRRC42,MIR4781,TCEANC2,TMEM59 chr15 44042378 44044786 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 PDIA3 chr1 54410619 54422586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPB11,LRRC42 chr1 54415731 54416756 Gain and loss Pancreatic cancer SNP array 17952125 LRRC42 chr15 44201923 44356904 Copy number loss Normal High-resolution SNP genotyping 21211785 FRMD5 chr15 44232750 44232850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD5 chr1 54424415 54438273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC42 chr1 54424415 54438273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC42 chr15 44300774 46093277 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 B2M,BLOC1S6,C15orf43,C15orf48,CASC4,CTDSPL2,DUOX1,DUOX2,DUOXA1,DUOXA2,EIF3J,FRMD5,GATM,HMGN2P46,LOC145663,LOC645212,MIR147B,PATL2,SHF,SLC28A2,SLC30A4,SORD,SPATA5L1,SPG11,SQRDL,TRIM69 chr1 54438428 54459117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 54438428 54459117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 44386322 44386422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD5 chr15 44414232 44414311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD5 chr15 44460444 44629062 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CASC4,FRMD5 chr15 44605692 44605724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASC4 chr15 44632328 44731675 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CASC4,CTDSPL2 chr1 54464783 54644680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDCP2,CYB5RL,LDLRAD1,MIR4781,TCEANC2,TMEM59 chr1 54464783 54644680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDCP2,CYB5RL,LDLRAD1,MIR4781,TCEANC2,TMEM59 chr15 44647848 44648545 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CASC4 chr15 44648000 44648459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CASC4 chr1 54469360 54470360 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr1 54473247 54557103 Substitutions and indels small cell lung cancer array-CGH 20016488 LDLRAD1,MIR4781,TCEANC2,TMEM59 chr15 44738145 44751835 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CTDSPL2 chr15 44740148 44740250 Gain and loss Pancreatic cancer SNP array 17952125 CTDSPL2 chr15 44740148 44740250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL2 chr1 54475047 54475147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDLRAD1 chr1 54476298 54477323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDLRAD1 chr15 44799692 44800002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL2 chr15 44799765 44800001 Gain and loss Pancreatic cancer SNP array 17952125 CTDSPL2 chr15 44799765 44800001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL2 chr15 44800000 49500000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 B2M,BLOC1S6,C15orf43,C15orf48,CEP152,COPS2,CTDSPL2,CTXN2,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EID1,EIF3J,FBN1,GALK2,GATM,HMGN2P46,LOC145663,LOC645212,MIR147B,MIR4716,MYEF2,NDUFAF4P1,PATL2,SECISBP2L,SEMA6D,SHC4,SHF,SLC12A1,SLC24A5,SLC28A2,SLC30A4,SORD,SPATA5L1,SPG11,SQRDL,TRIM69 chr15 44800000 49500000 Deletion Marfan syndrome MLPA, Affyymetrix Human Mapping 500K Array 17492313 B2M,BLOC1S6,C15orf43,C15orf48,CEP152,COPS2,CTDSPL2,CTXN2,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EID1,EIF3J,FBN1,GALK2,GATM,HMGN2P46,LOC145663,LOC645212,MIR147B,MIR4716,MYEF2,NDUFAF4P1,PATL2,SECISBP2L,SEMA6D,SHC4,SHF,SLC12A1,SLC24A5,SLC28A2,SLC30A4,SORD,SPATA5L1,SPG11,SQRDL,TRIM69 chr15 44800000 49500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 B2M,BLOC1S6,C15orf43,C15orf48,CEP152,COPS2,CTDSPL2,CTXN2,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EID1,EIF3J,FBN1,GALK2,GATM,HMGN2P46,LOC145663,LOC645212,MIR147B,MIR4716,MYEF2,NDUFAF4P1,PATL2,SECISBP2L,SEMA6D,SHC4,SHF,SLC12A1,SLC24A5,SLC28A2,SLC30A4,SORD,SPATA5L1,SPG11,SQRDL,TRIM69 chr15 44800000 63700000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ADAM10,ALDH1A2,ANXA2,AP4E1,APH1B,AQP9,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,BNIP2,C15orf43,C15orf48,C2CD4A,C2CD4B,CA12,CCNB2,CCPG1,CEP152,CGNL1,COPS2,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,FAM214A,FAM227B,FAM63B,FAM81A,FBN1,FGF7,FLJ10038,FLJ27352,FOXB1,GABPB1,GABPB1-AS1,GALK2,GATM,GCNT3,GCOM1,GLDN,GNB5,GTF2A2,HDC,HMGN2P46,HSP90AB4P,LACTB,LDHAL6B,LEO1,LIPC,LOC145663,LOC145783,LOC283663,LOC645212,LYSMD2,MAPK6,MGC15885,MIR1266,MIR147B,MIR190A,MIR2116,MIR4712,MIR4713,MIR4716,MIR628,MNS1,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NDUFAF4P1,NEDD4,ONECUT1,PATL2,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RAB8B,RFX7,RNF111,RORA,RPS27L,RSL24D1,SCG3,SECISBP2L,SEMA6D,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLTM,SORD,SPATA5L1,SPG11,SPPL2A,SQRDL,TCF12,TEX9,TLN2,TMOD2,TMOD3,TNFAIP8L3,TPM1,TRIM69,TRPM7,UNC13C,USP50,USP8,VPS13C,WDR72,ZNF280D chr15 44800000 63700000 Loss Esophageal adenocarcinoma MLPA 18820669 ADAM10,ALDH1A2,ANXA2,AP4E1,APH1B,AQP9,ARPP19,ATP8B4,B2M,BCL2L10,BLOC1S6,BNIP2,C15orf43,C15orf48,C2CD4A,C2CD4B,CA12,CCNB2,CCPG1,CEP152,CGNL1,COPS2,CTDSPL2,CTXN2,CYP19A1,DCAF13P3,DMXL2,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EID1,EIF3J,FAM214A,FAM227B,FAM63B,FAM81A,FBN1,FGF7,FLJ10038,FLJ27352,FOXB1,GABPB1,GABPB1-AS1,GALK2,GATM,GCNT3,GCOM1,GLDN,GNB5,GTF2A2,HDC,HMGN2P46,HSP90AB4P,LACTB,LDHAL6B,LEO1,LIPC,LOC145663,LOC145783,LOC283663,LOC645212,LYSMD2,MAPK6,MGC15885,MIR1266,MIR147B,MIR190A,MIR2116,MIR4712,MIR4713,MIR4716,MIR628,MNS1,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NDUFAF4P1,NEDD4,ONECUT1,PATL2,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RAB8B,RFX7,RNF111,RORA,RPS27L,RSL24D1,SCG3,SECISBP2L,SEMA6D,SHC4,SHF,SLC12A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLTM,SORD,SPATA5L1,SPG11,SPPL2A,SQRDL,TCF12,TEX9,TLN2,TMOD2,TMOD3,TNFAIP8L3,TPM1,TRIM69,TRPM7,UNC13C,USP50,USP8,VPS13C,WDR72,ZNF280D chr15 44815926 46798728 LOH Normal High-resolution SNP genotyping 21211785 B2M,BLOC1S6,C15orf43,C15orf48,CTDSPL2,DUOX1,DUOX2,DUOXA1,DUOXA2,EIF3J,GATM,HMGN2P46,LOC145663,LOC645212,MIR147B,PATL2,SHF,SLC28A2,SLC30A4,SORD,SPATA5L1,SPG11,SQRDL,TRIM69 chr15 44829265 44855000 Deletion Prostate cancer aCGH 22341455 EIF3J,SPG11 chr15 44844310 45406635 LOH Normal High-resolution SNP genotyping 21211785 B2M,C15orf43,DUOX2,DUOXA2,EIF3J,PATL2,SORD,SPG11,TRIM69 chr15 44854893 44955875 Deletion Prostate cancer aCGH 22341455 EIF3J,SPG11 chr15 44907014 44907450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPG11 chr15 44907083 44907450 Gain and loss Pancreatic cancer SNP array 17952125 SPG11 chr15 44965493 44965593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PATL2 chr15 45023057 45023140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 45121211 45122211 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 45124000 45186088 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr15 45134880 49448561 Loss Prostate cancer Array CGH 18632612 BLOC1S6,C15orf43,C15orf48,CEP152,COPS2,CTXN2,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,EID1,FBN1,GALK2,GATM,HMGN2P46,LOC145663,MIR147B,MYEF2,NDUFAF4P1,SECISBP2L,SEMA6D,SHC4,SHF,SLC12A1,SLC24A5,SLC28A2,SLC30A4,SORD,SPATA5L1,SQRDL chr15 45140799 45182235 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr15 45140799 45182235 Gain Non-syndromic sensorineural hearing loss 610K 19587683 NOT_FOUND chr15 45179162 45179462 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 45179195 45180195 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 45251131 45269256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C15orf43 chr15 45264821 45391601 Gain Normal 244K array 17666407 C15orf43,DUOX2,SORD chr15 45275174 45301774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 45289190 45299607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 45321693 45321768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORD chr1 54532780 54532840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCEANC2 chr15 45352086 45352401 Gain and loss Pancreatic cancer SNP array 17952125 SORD chr15 45352086 45352401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORD chr15 45352087 45352318 Gain and loss Pancreatic cancer SNP array 17952125 SORD chr15 45426421 45426491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUOX1 chr15 45427516 46846965 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BLOC1S6,C15orf48,DUOX1,GATM,HMGN2P46,LOC145663,MIR147B,SHF,SLC28A2,SLC30A4,SPATA5L1,SQRDL chr15 45428850 45428950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUOX1 chr15 45430187 45430261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUOX1 chr15 45476639 45476739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHF chr15 45507926 45508099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 45569916 45570056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 54561497 54562497 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 TCEANC2 chr1 54562083 54649251 Substitutions and indels small cell lung cancer array-CGH 20016488 CDCP2,CYB5RL,TCEANC2 chr15 45631964 45632060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 54568320 54568411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 54573561 55455352 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ACOT11,C1orf177,CDCP2,CYB5RL,DHCR24,FAM151A,HEATR8,HEATR8-TTC4,MRPL37,PARS2,SSBP3,TMEM61,TTC22,TTC4 chr15 45746681 45746747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 45757617 45758617 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 45763165 45764165 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 45790516 45791516 Loss Renal cell carcinoma References 21215367 SLC30A4 chr15 45797978 45853709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HMGN2P46,SLC30A4 chr15 45797978 45853709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGN2P46,SLC30A4 chr15 45797978 45853711 Gain and loss Pancreatic cancer SNP array 17952125 HMGN2P46,SLC30A4 chr15 45809630 45810427 Gain and loss Pancreatic cancer SNP array 17952125 HMGN2P46,SLC30A4 chr15 45809630 45810436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HMGN2P46,SLC30A4 chr15 45809630 45810436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGN2P46,SLC30A4 chr15 45814941 45815941 Loss Renal cell carcinoma References 21215367 HMGN2P46,SLC30A4 chr15 45838876 45839876 Loss Renal cell carcinoma References 21215367 HMGN2P46 chr15 45942604 46990386 LOH Normal High-resolution SNP genotyping 21211785 SQRDL chr15 45944306 46990386 LOH Normal High-resolution SNP genotyping 21211785 SQRDL chr15 45992538 45995535 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 45994298 46002542 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr15 45994758 45999227 Copy number Type 2 diabetes ILLumia HumanHap306 BeadChip 21526130 NOT_FOUND chr15 45994758 46034246 Copy number Normal - 20703242 NOT_FOUND chr15 45995535 46001995 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 45997497 46745631 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 45997497 46749442 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 46054483 46054578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 46089000 47368000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 NOT_FOUND chr15 46125992 46126188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 46200461 46221881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46200461 46221881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46200461 46221881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46218920 46257850 Copy number Lung cancer - 20668451 NOT_FOUND chr15 46218920 46257850 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 46218920 46257850 Gain or loss Cancer - 20668451 NOT_FOUND chr15 46218920 46257850 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 46218920 46257850 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 46218920 46257850 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 46218920 46257850 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 46218921 46257850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46218921 46257850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46219719 46257842 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46232483 46232533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 46276344 46276444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 46285790 46383565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46285790 46383565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46287023 46383565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46296330 46451070 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 46337554 46337873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 46377064 46377164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 54638678 54638778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYB5RL chr15 46405047 46405160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46405048 46405160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46405049 46405160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46410913 46422862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46410913 46422862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46410929 46421908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46415209 46521994 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 NOT_FOUND chr15 46453422 46454422 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 46459126 46459226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 46471220 46471272 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr15 46480283 46481283 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 46487797 46725210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46487797 46725210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46489479 46724391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46507201 46508201 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 46520000 47360000 Gain Acute lymphoblastic leukemia - 21339820 NOT_FOUND chr1 54652634 54653634 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 CYB5RL chr1 54654159 57627915 Substitutions and indels small cell lung cancer array-CGH 20016488 ACOT11,BSND,C1orf168,C1orf177,C8A,C8B,CYB5RL,DAB1,DHCR24,FAM151A,HEATR8,HEATR8-TTC4,LOC100507634,MIR4422,MRPL37,PARS2,PCSK9,PPAP2B,PRKAA2,SSBP3,TMEM61,TTC22,TTC4,USP24 chr15 46555106 46556106 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 46555181 46556181 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 46798341 47808532 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SEMA6D chr15 46804837 46805320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46817428 46890562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46817428 46890562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46817640 46890476 Copy number Autism exome sequencing 22495311 NOT_FOUND chr15 46820637 46890519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46841305 46841405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 46884673 46884768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 46903227 47042933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46903227 47042933 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46903227 47042933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46957582 46959672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46957582 46959672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 46957612 46959293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 46980083 47525525 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 SEMA6D chr15 46996085 47537720 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 SEMA6D chr15 46998441 46998541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 47022171 47022252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 47051559 47052594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47068130 47125950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47068259 47125987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47068259 47125987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47071279 47071362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 54707376 54707445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSBP3 chr15 47075401 47075511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47075403 47075511 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47086733 47086833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 47121830 47122123 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47121830 47122132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47121832 47122132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47127511 47127611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 47136159 47136191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 47140948 47170152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 47164994 47165086 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47164994 47165086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47175541 49073868 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP152,CTXN2,DUT,FBN1,MYEF2,SEMA6D,SLC12A1,SLC24A5 chr1 54719765 54719827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSBP3 chr1 54719951 54812423 Gain and loss Pancreatic cancer SNP array 17952125 SSBP3 chr15 47206834 47235073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47206835 47235070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47206835 47235070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47217251 47217352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47217252 47217352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47217253 47217352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47235268 47409294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47235268 47409294 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47235268 47409294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47278389 47278683 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47278389 47278683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47278391 47278683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 47288459 47288559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 47301004 47301104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 47330301 47337000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 47330977 47331077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 47332156 47335131 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 54736546 54820778 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SSBP3 chr15 47407883 47700410 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SEMA6D chr15 47407886 47700407 Gain and loss Pancreatic cancer SNP array 17952125 SEMA6D chr15 47407886 47700410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 47407886 47700410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 47444689 47446074 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 47488387 47488487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47498995 47525965 Loss Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 SEMA6D chr15 47502750 47566815 Gain or loss Breast cancer - 20668451 SEMA6D chr15 47502750 47566815 Gain or loss Cancer - 20668451 SEMA6D chr15 47502750 47566815 Gain or loss Lung cancer - 20668451 SEMA6D chr15 47502750 47566815 Gain or loss Ovarian cancer - 20668451 SEMA6D chr15 47502750 47566815 Gain or loss Pancreas cancer - 20668451 SEMA6D chr15 47502750 47566815 Gain or loss Prostate cancer - 20668451 SEMA6D chr15 47502751 47566815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 47502751 47566815 Gain and loss Pancreatic cancer SNP array 17952125 SEMA6D chr15 47502751 47566815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 47504264 47504719 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SEMA6D chr15 47504264 47504719 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 SEMA6D chr15 47507180 47507280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47507326 47507551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47509678 48418471 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 SEMA6D,SLC24A5 chr15 47513401 47589300 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEMA6D chr15 47540000 48970000 Loss Breast cancer aCGH 21509527 CTXN2,DUT,FBN1,MYEF2,SEMA6D,SLC12A1,SLC24A5 chr15 47588546 47588621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47589301 47766400 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEMA6D chr15 47600000 51100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP8B4,CEP152,COPS2,CTXN2,DTWD1,DUT,EID1,FAM227B,FBN1,FGF7,FLJ10038,GABPB1,GABPB1-AS1,GALK2,HDC,MIR4712,MIR4716,MYEF2,NDUFAF4P1,SECISBP2L,SEMA6D,SHC4,SLC12A1,SLC24A5,SLC27A2,SPPL2A,TRPM7,USP50,USP8 chr15 47600000 51100000 Loss Hepatocellular carcinoma Array CGH 16750200 ATP8B4,CEP152,COPS2,CTXN2,DTWD1,DUT,EID1,FAM227B,FBN1,FGF7,FLJ10038,GABPB1,GABPB1-AS1,GALK2,HDC,MIR4712,MIR4716,MYEF2,NDUFAF4P1,SECISBP2L,SEMA6D,SHC4,SLC12A1,SLC24A5,SLC27A2,SPPL2A,TRPM7,USP50,USP8 chr1 54761393 54761472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSBP3 chr1 54763085 54763192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSBP3 chr15 47655638 47655738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47664258 47664358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47700529 47723153 Gain and loss Pancreatic cancer SNP array 17952125 SEMA6D chr15 47700563 47723151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 47700563 47723151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr1 54773117 54773212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSBP3 chr15 47733440 47733535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr1 54775057 54776019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSBP3 chr1 54775057 54776019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSBP3 chr15 47766401 48348300 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEMA6D chr15 47772308 47772403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47775944 47776044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr1 54783480 54828069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SSBP3 chr15 47837879 47837979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr1 547854 564447 Gain Normal TaqMan assays 20972442 NOT_FOUND chr15 47855250 47900250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEMA6D chr1 54786489 54873005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSBP3 chr1 54786489 54873005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSBP3 chr1 54786876 54801250 Gain and loss Pancreatic cancer SNP array 17952125 SSBP3 chr15 47869496 47869596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47873733 47875589 Gain and loss Pancreatic cancer SNP array 17952125 SEMA6D chr15 47873733 47875589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 47910732 47910792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SEMA6D chr1 54793564 54841016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SSBP3 chr15 47937727 48198711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 47937727 48198711 Gain and loss Pancreatic cancer SNP array 17952125 SEMA6D chr15 47937727 48198711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 47965957 47998461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEMA6D chr15 47967896 47967971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47970752 47970852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47987633 47987733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 47999913 48000013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr1 54800919 54818646 Loss or gain Normal 244K array 17666407 SSBP3 chr15 48042692 48042786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA6D chr15 48055351 49073868 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP152,CTXN2,DUT,FBN1,MYEF2,SEMA6D,SLC12A1,SLC24A5 chr15 48059377 48558803 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 CTXN2,MYEF2,SEMA6D,SLC12A1,SLC24A5 chr15 48061932 48062050 Gain and loss Pancreatic cancer SNP array 17952125 SEMA6D chr15 48061932 48062050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA6D chr15 48061932 48062051 Gain and loss Pancreatic cancer SNP array 17952125 SEMA6D chr15 48089816 48134908 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 48189446 48189530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 54819404 54819504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSBP3 chr1 54819495 54887956 Gain and loss Pancreatic cancer SNP array 17952125 SSBP3 chr15 48206991 84693976 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 AAGAB,ACSBG1,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AGPHD1,AGSK1,ALDH1A2,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANXA2,AP3B2,AP4E1,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARPP19,ATP8B4,BBS4,BCL2A1,BCL2L10,BNC1,BNIP2,BTBD1,C15orf26,C15orf27,C15orf37,C15orf39,C15orf40,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CCNB2,CCPG1,CD276,CELF6,CEP152,CGNL1,CHRNA3,CHRNA5,CHRNB4,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CSK,CSNK1G1,CSPG4,CT62,CTSH,CTXN2,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DIS3L,DMXL2,DNAJA4,DNM1P35,DPP8,DTWD1,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EID1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM96A,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FGF7,FLJ10038,FLJ27352,FOXB1,FSD2,GABPB1,GABPB1-AS1,GALK2,GCNT3,GCOM1,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L9,GRAMD2,GTF2A2,HCN4,HDC,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,HSP90AB4P,IDH3A,IGDCC3,IGDCC4,IL16,IMP3,IQCH,IQCH-AS1,IREB2,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,LACTB,LARP6,LCTL,LDHAL6B,LEO1,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC145783,LOC145837,LOC253044,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC338963,LOC390660,LOC440288,LOC440297,LOC645752,LOC646938,LOC727849,LOC729739,LOC729911,LOC91450,LOXL1,LOXL1-AS1,LRRC49,LYSMD2,MAN2C1,MAP2K1,MAP2K5,MAPK6,MEGF11,MESDC1,MESDC2,MEX3B,MGC15885,MIR1266,MIR1272,MIR184,MIR190A,MIR2116,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4716,MIR5003,MIR548H4,MIR549,MIR628,MIR629,MIR630,MIR631,MNS1,MORF4L1,MPI,MTFMT,MTHFS,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NDUFAF4P1,NEDD4,NEIL1,NEO1,NOX5,NPTN,NR2E3,NRG4,OAZ2,ODF3L1,ONECUT1,PAQR5,PARP16,PARP6,PDCD7,PEAK1,PIAS1,PIF1,PIGB,PKM,PLEKHO2,PML,POLR2M,PPCDC,PPIB,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RASGRF1,RASL12,RBPMS2,RCN2,RFX7,RNF111,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RSL24D1,SCAMP2,SCAMP5,SCAPER,SCARNA14,SCARNA15,SCG3,SECISBP2L,SEMA7A,SENP8,SH2D7,SH3GL3,SHC4,SIN3A,SKOR1,SLC12A1,SLC24A1,SLC24A5,SLC27A2,SLC51B,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPESP1,SPG21,SPPL2A,ST20,ST20-MTHFS,STARD5,STOML1,STRA6,TBC1D21,TBC1D2B,TCF12,TEX9,THAP10,THSD4,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TMOD2,TMOD3,TNFAIP8L3,TPM1,TRIP4,TRPM7,TSPAN3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC13C,USP3,USP50,USP8,VPS13C,WDR61,WDR72,WHAMM,ZFAND6,ZNF280D,ZNF609,ZWILCH chr15 48227206 48227284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 48259650 50347689 LOH Normal High-resolution SNP genotyping 21211785 ATP8B4,CEP152,COPS2,CTXN2,DTWD1,DUT,EID1,FAM227B,FBN1,FGF7,GALK2,MIR4716,MYEF2,NDUFAF4P1,SECISBP2L,SHC4,SLC12A1,SLC24A5 chr15 48259750 48259839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 48261685 48315865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 48261685 48315865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 48261713 48315862 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr15 48261714 48315862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 48289557 48289656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 48298368 49772390 LOH Normal High-resolution SNP genotyping 21211785 CEP152,COPS2,CTXN2,DUT,EID1,FAM227B,FBN1,FGF7,GALK2,MIR4716,MYEF2,NDUFAF4P1,SECISBP2L,SHC4,SLC12A1,SLC24A5 chr15 48301377 48301483 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 48301377 48301484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 48301377 48301485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 48305297 48336567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 48321443 48345214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 48321444 48345218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 48321444 48345218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 48324120 48324420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 48324178 48324420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 48324178 48324420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 48332267 48332367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 48348301 49107300 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP152,CTXN2,DUT,FBN1,MYEF2,SLC12A1,SLC24A5 chr15 48349855 48838336 Duplication Normal - 21586113 CTXN2,DUT,FBN1,MYEF2,SLC12A1,SLC24A5 chr15 48356681 48434687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYEF2,SLC24A5 chr15 48356681 48434687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYEF2,SLC24A5 chr15 48356749 48434691 Gain and loss Pancreatic cancer SNP array 17952125 MYEF2,SLC24A5 chr15 48358366 48358466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 48369131 48371385 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 48384503 48648839 Duplication Normal Affymetrix 6.0 microarrays 20967226 CTXN2,DUT,MYEF2,SLC12A1,SLC24A5 chr15 48407932 48896243 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CTXN2,DUT,FBN1,MYEF2,SLC12A1,SLC24A5 chr15 48415101 48415194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A5 chr15 48417864 48815590 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 CTXN2,DUT,FBN1,MYEF2,SLC12A1,SLC24A5 chr15 48418471 49125310 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CEP152,CTXN2,DUT,FBN1,MYEF2,SHC4,SLC12A1,SLC24A5 chr15 48420371 48420499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC24A5 chr15 48425664 48425744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A5 chr15 48426912 48427018 Gain and loss Pancreatic cancer SNP array 17952125 SLC24A5 chr15 48426912 48427018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC24A5 chr15 48428424 48434368 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MYEF2,SLC24A5 chr15 48436003 48536757 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 CTXN2,MYEF2,SLC12A1 chr1 54847443 54861817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSBP3 chr1 54847443 54861817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSBP3 chr15 48503870 48580569 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 SLC12A1 chr15 48503870 48580569 Gain or loss Breast cancer - 20668451 SLC12A1 chr15 48503870 48580569 Gain or loss Cancer - 20668451 SLC12A1 chr15 48503870 48580569 Gain or loss Lung cancer - 20668451 SLC12A1 chr15 48503870 48580569 Gain or loss Ovarian cancer - 20668451 SLC12A1 chr15 48503870 48580569 Gain or loss Pancreas cancer - 20668451 SLC12A1 chr15 48503870 48580569 Gain or loss Prostate cancer - 20668451 SLC12A1 chr15 48503871 48579257 Gain and loss Pancreatic cancer SNP array 17952125 SLC12A1 chr15 48503871 48580572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC12A1 chr15 48503871 48580572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC12A1 chr1 54852783 54852881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSBP3 chr15 48534465 48534957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC12A1 chr1 54855727 54855827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSBP3 chr15 48574732 48574789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC12A1 chr15 48580050 48626194 Copy number Lung cancer - 20668451 DUT,SLC12A1 chr15 48580050 48626194 Gain or loss Breast cancer - 20668451 DUT,SLC12A1 chr15 48580050 48626194 Gain or loss Cancer - 20668451 DUT,SLC12A1 chr15 48580050 48626194 Gain or loss Lung cancer - 20668451 DUT,SLC12A1 chr15 48580050 48626194 Gain or loss Ovarian cancer - 20668451 DUT,SLC12A1 chr15 48580050 48626194 Gain or loss Pancreas cancer - 20668451 DUT,SLC12A1 chr15 48580050 48626194 Gain or loss Prostate cancer - 20668451 DUT,SLC12A1 chr15 48580052 48626194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUT,SLC12A1 chr15 48580052 48626194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUT,SLC12A1 chr15 48580258 48626014 Gain and loss Pancreatic cancer SNP array 17952125 DUT,SLC12A1 chr1 54861813 54868562 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SSBP3 chr1 54863301 54870000 Deletion Glioma mate-paired sequence 20126413 SSBP3 chr15 48635662 48746698 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FBN1 chr15 48639785 48766287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBN1 chr15 48639785 48766287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBN1 chr15 48639787 48766287 Gain and loss Pancreatic cancer SNP array 17952125 FBN1 chr1 54864797 54876172 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SSBP3 chr1 54864862 54868554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SSBP3 chr15 48665866 48687977 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 48695483 48695583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 48708646 48709087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBN1 chr15 48715502 48715602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBN1 chr15 48715912 48746543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBN1 chr15 48732001 48736700 Deletion Glioma mate-paired sequence 20126413 FBN1 chr15 48765259 48765359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBN1 chr15 48768389 48768674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBN1 chr15 48768389 48768682 Gain and loss Pancreatic cancer SNP array 17952125 FBN1 chr15 48768389 48768682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBN1 chr15 48787031 48845202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBN1 chr15 48787031 48845202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBN1 chr15 48787057 48845191 Gain and loss Pancreatic cancer SNP array 17952125 FBN1 chr1 54880032 54948527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 54880032 54948527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 48839156 48839256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBN1 chr15 48881661 48881761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBN1 chr1 54893516 54920347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 48988238 49082859 Gain and loss Pancreatic cancer SNP array 17952125 CEP152 chr15 48988238 49085389 Copy number Autism exome sequencing 22495311 CEP152 chr15 48988238 49085389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP152 chr15 48988238 49085389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP152 chr15 49030704 49294800 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CEP152,EID1,SECISBP2L,SHC4 chr15 49039838 49039938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP152 chr15 49057669 49057769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP152 chr15 49069549 49617631 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CEP152,COPS2,EID1,GALK2,MIR4716,NDUFAF4P1,SECISBP2L,SHC4 chr15 49090339 49104954 Loss Normal 244K array 17666407 CEP152 chr15 49107301 49486800 Copy number Normal ReadDepth: A Parallel R Package 21305028 COPS2,EID1,GALK2,MIR4716,NDUFAF4P1,SECISBP2L,SHC4 chr15 49125310 49899467 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 COPS2,EID1,FAM227B,FGF7,GALK2,MIR4716,NDUFAF4P1,SECISBP2L,SHC4 chr15 49136093 49184765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EID1,SHC4 chr15 49136093 49184765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EID1,SHC4 chr15 49137370 49137933 Gain and loss Pancreatic cancer SNP array 17952125 SHC4 chr15 49195972 49230090 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHC4 chr15 49250916 51677654 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AP4E1,ATP8B4,COPS2,CYP19A1,DCAF13P3,DTWD1,FAM227B,FGF7,FLJ10038,GABPB1,GABPB1-AS1,GALK2,GLDN,HDC,MIR4712,MIR4713,MIR4716,NDUFAF4P1,SECISBP2L,SHC4,SLC27A2,SPPL2A,TNFAIP8L3,TRPM7,USP50,USP8 chr15 49287545 49418087 Duplications, deletions Aromatase excess syndrome RT-PCR 22319526 COPS2,SECISBP2L chr15 49287546 49418099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COPS2,SECISBP2L chr15 49287546 49418099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPS2,SECISBP2L chr15 49288964 49403413 Gain and loss Pancreatic cancer SNP array 17952125 SECISBP2L chr1 54934594 54942208 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 49351362 50191831 LOH Normal High-resolution SNP genotyping 21211785 ATP8B4,COPS2,DTWD1,FAM227B,FGF7,GALK2,MIR4716,NDUFAF4P1 chr15 49421005 49487502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COPS2,GALK2,MIR4716,NDUFAF4P1 chr15 49421005 49487502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPS2,GALK2,MIR4716,NDUFAF4P1 chr15 49421169 49487493 Gain and loss Pancreatic cancer SNP array 17952125 COPS2,GALK2,MIR4716,NDUFAF4P1 chr15 49446720 50039870 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1052K arrays 21546498 COPS2,DTWD1,FAM227B,FGF7,GALK2,MIR4716,NDUFAF4P1 chr15 49463044 49463176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALK2 chr15 49486801 49739800 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM227B,FGF7,GALK2 chr1 54949671 54949751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 49522001 49523500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GALK2 chr15 49525688 49525757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALK2 chr15 49527229 49702259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM227B,GALK2 chr15 49527229 49702259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM227B,GALK2 chr15 49528181 49702241 Gain and loss Pancreatic cancer SNP array 17952125 FAM227B,GALK2 chr1 54954170 54980491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 54954170 54980491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 49551259 55572977 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1061K arrays 21546498 AP4E1,ARPP19,ATP8B4,BCL2L10,CYP19A1,DCAF13P3,DMXL2,DTWD1,FAM214A,FAM227B,FGF7,FLJ10038,GABPB1,GABPB1-AS1,GALK2,GLDN,GNB5,HDC,LEO1,LYSMD2,MAPK6,MIR1266,MIR4712,MIR4713,MYO5A,MYO5C,ONECUT1,RAB27A,RSL24D1,SCG3,SLC27A2,SPPL2A,TMOD2,TMOD3,TNFAIP8L3,TRPM7,UNC13C,USP50,USP8,WDR72 chr15 49590728 49612517 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GALK2 chr15 49609383 49609531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALK2 chr1 54962246 54978892 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 49629184 49663068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM227B chr15 49646975 49659845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM227B chr15 49684994 49685331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM227B chr15 49712661 49712761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM227B chr15 49739801 50144600 Copy number Normal ReadDepth: A Parallel R Package 21305028 DTWD1,FAM227B,FGF7 chr15 49760841 49800514 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM227B,FGF7 chr15 49760842 49800514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM227B,FGF7 chr15 49760842 49800514 Gain and loss Pancreatic cancer SNP array 17952125 FAM227B,FGF7 chr15 49760842 49800514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM227B,FGF7 chr15 49771401 49771454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM227B,FGF7 chr15 49776667 49776779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM227B,FGF7 chr15 49789477 49789577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM227B chr15 49797164 50769876 LOH Normal High-resolution SNP genotyping 21211785 ATP8B4,DTWD1,FAM227B,FLJ10038,GABPB1,GABPB1-AS1,HDC,MIR4712,SLC27A2,USP8 chr15 49801395 49801495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM227B chr15 49802554 49817608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM227B chr15 49802554 49817608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM227B chr15 49802554 49831076 Gain and loss Pancreatic cancer SNP array 17952125 FAM227B chr15 49809647 49844296 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 FAM227B chr15 49831102 49889634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM227B chr15 49831102 49889634 Gain and loss Pancreatic cancer SNP array 17952125 FAM227B chr15 49831102 49889634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM227B chr1 54983757 55019946 Gain and loss Pancreatic cancer SNP array 17952125 ACOT11 chr15 49866801 49866901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM227B chr15 49899467 50269716 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP8B4,DTWD1,FAM227B chr15 49909155 49989136 Gain and loss Pancreatic cancer SNP array 17952125 DTWD1,FAM227B chr15 49909181 49989134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTWD1,FAM227B chr15 49909181 49989134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTWD1,FAM227B chr15 49938673 49939199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 54995161 55002775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 54995161 55002775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 49964045 49964140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 49964045 49964142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 49971827 49971927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 49985751 49985851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 49986689 49986794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 49986689 49986794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 49986690 49986794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 50017516 50051271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 50017516 50051271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 50017522 50051271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 50063585 50108211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 50098727 50145751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 50098727 50145751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 50098738 50145754 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 50098738 50145754 Gain or loss Cancer - 20668451 NOT_FOUND chr15 50098738 50145754 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 50098738 50145754 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 50098738 50145754 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 50098738 50145754 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 50098739 50145753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 50105438 51941339 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AP4E1,ATP8B4,CYP19A1,DCAF13P3,DMXL2,FLJ10038,GABPB1,GABPB1-AS1,GLDN,HDC,MIR4712,MIR4713,SLC27A2,SPPL2A,TNFAIP8L3,TRPM7,USP50,USP8 chr15 50112871 50112950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 50144601 50372300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP8B4 chr15 50175687 50176939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP8B4 chr15 50189114 50192264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4 chr15 50189114 50192264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4 chr15 50189120 50192264 Gain and loss Pancreatic cancer SNP array 17952125 ATP8B4 chr1 55019504 55039459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT11 chr1 55019504 55039459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT11 chr15 50200415 50270857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4 chr15 50200415 50270857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4 chr15 50200429 50270857 Gain and loss Pancreatic cancer SNP array 17952125 ATP8B4 chr15 50220638 50220738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8B4 chr15 50242240 50242339 Gain and loss Pancreatic cancer SNP array 17952125 ATP8B4 chr15 50242240 50242341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4 chr15 50269716 52322915 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AP4E1,ATP8B4,CYP19A1,DCAF13P3,DMXL2,FLJ10038,GABPB1,GABPB1-AS1,GLDN,HDC,LEO1,LYSMD2,MAPK6,MIR4712,MIR4713,SCG3,SLC27A2,SPPL2A,TMOD2,TMOD3,TNFAIP8L3,TRPM7,USP50,USP8 chr15 50271814 50375144 Gain and loss Pancreatic cancer SNP array 17952125 ATP8B4 chr1 55027329 55064912 Gain and loss Pancreatic cancer SNP array 17952125 ACOT11 chr15 50273391 50375233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4 chr15 50289538 50324359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP8B4 chr15 50305422 50305507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8B4 chr15 50312476 50312808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP8B4 chr1 55031774 55031863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOT11 chr15 50345844 50345944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8B4 chr15 50349914 50350214 Gain Renal cell carcinoma References 21215367 ATP8B4 chr15 50356606 50356689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4 chr15 50372301 50473500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP8B4 chr15 50386770 50608539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4,GABPB1,HDC,SLC27A2 chr15 50386770 50608539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B4,GABPB1,HDC,SLC27A2 chr15 50390956 50393058 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ATP8B4 chr15 50392602 50523706 Gain and loss Pancreatic cancer SNP array 17952125 ATP8B4,SLC27A2 chr15 50402460 50402560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP8B4 chr15 50412615 50413615 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 50434532 50434632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 55044324 55080513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT11,FAM151A chr1 55044324 55080513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT11,FAM151A chr15 50465525 50466525 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 50473501 50777100 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ10038,GABPB1,GABPB1-AS1,HDC,MIR4712,SLC27A2,USP8 chr15 50506348 50506708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC27A2 chr15 50530209 50531209 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 50541698 50541998 Loss Renal cell carcinoma References 21215367 HDC chr15 50541752 50542752 Loss Renal cell carcinoma References 21215367 HDC chr15 50584678 50585352 Gain and loss Pancreatic cancer SNP array 17952125 GABPB1 chr15 50584678 50585352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABPB1 chr1 55060140 55060457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACOT11 chr15 50622305 50651431 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FLJ10038,GABPB1,GABPB1-AS1 chr15 50626535 50648656 Gain and loss Pancreatic cancer SNP array 17952125 FLJ10038,GABPB1,GABPB1-AS1 chr15 50626723 50648505 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 FLJ10038,GABPB1,GABPB1-AS1 chr15 50626724 50648505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ10038,GABPB1,GABPB1-AS1 chr15 50626724 50648505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ10038,GABPB1,GABPB1-AS1 chr15 50660809 50758112 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 USP8 chr15 50660812 50758123 Gain and loss Pancreatic cancer SNP array 17952125 USP8 chr15 50660822 50709156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 50660822 50709156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 50712362 50712423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 55073584 55078141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACOT11,FAM151A chr15 50759751 50950209 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 TRPM7,USP50,USP8 chr1 55076155 55076244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOT11,FAM151A chr15 50777101 51536100 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP4E1,CYP19A1,DCAF13P3,MIR4713,SPPL2A,TNFAIP8L3,TRPM7,USP50,USP8 chr15 50791758 50833347 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 USP50,USP8 chr15 50798816 51365986 LOH Normal High-resolution SNP genotyping 21211785 AP4E1,DCAF13P3,SPPL2A,TNFAIP8L3,TRPM7,USP50 chr15 50818860 51968418 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AP4E1,CYP19A1,DCAF13P3,DMXL2,GLDN,MIR4713,SPPL2A,TNFAIP8L3,TRPM7,USP50 chr15 50836478 50869373 Gain and loss Pancreatic cancer SNP array 17952125 TRPM7,USP50 chr15 50836645 50869501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPM7,USP50 chr15 50836645 50869501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPM7,USP50 chr15 50858293 53126379 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 AP4E1,ARPP19,BCL2L10,CYP19A1,DCAF13P3,DMXL2,FAM214A,GLDN,GNB5,LEO1,LYSMD2,MAPK6,MIR1266,MIR4713,MYO5A,MYO5C,ONECUT1,SCG3,SPPL2A,TMOD2,TMOD3,TNFAIP8L3,TRPM7 chr15 50863501 50871500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPM7 chr15 50871501 50886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPM7 chr1 55087888 55125509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT11,FAM151A,HEATR8,HEATR8-TTC4 chr1 55087888 55125509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT11,FAM151A,HEATR8,HEATR8-TTC4 chr15 50898077 50935372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRPM7 chr1 55090331 55090866 Gain and loss Pancreatic cancer SNP array 17952125 ACOT11 chr15 50963988 50965962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPM7 chr15 50963988 50965962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPM7 chr15 50965129 50965962 Gain and loss Pancreatic cancer SNP array 17952125 TRPM7 chr15 51016649 51017327 Gain and loss Pancreatic cancer SNP array 17952125 SPPL2A chr15 51017859 51017946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPPL2A chr1 55106926 55106977 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 55106926 55106977 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 55107643 55107733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEATR8,HEATR8-TTC4 chr15 51090311 51090346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 51100000 100338915 Gain Medulloblastoma SNP arrays 21979893 AAGAB,ABHD2,ACAN,ACSBG1,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,BBS4,BCL2A1,BCL2L10,BLM,BNC1,BNIP2,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CCNB2,CCPG1,CD276,CELF6,CGNL1,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTSH,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DMXL2,DNAJA4,DNM1P35,DNM1P41,DNM1P46,DPP8,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM214A,FAM219B,FAM63B,FAM81A,FAM96A,FANCI,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FLJ27352,FOXB1,FSD2,FURIN,GABARAPL3,GCNT3,GCOM1,GDPGP1,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,GTF2A2,HAPLN3,HCN4,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145783,LOC145820,LOC145837,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,LYSMD2,LYSMD4,MAN2A2,MAN2C1,MAP2K1,MAP2K5,MAPK6,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MGC15885,MIR1179,MIR1266,MIR1272,MIR1276,MIR1469,MIR184,MIR190A,MIR2116,MIR3175,MIR3529,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4713,MIR4714,MIR5003,MIR5094,MIR548H4,MIR549,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MNS1,MORF4L1,MPI,MRPL46,MRPS11,MTFMT,MTHFS,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NEDD4,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,OAZ2,ODF3L1,ONECUT1,PAQR5,PARP16,PARP6,PDCD7,PDE8A,PEAK1,PEX11A,PGPEP1L,PIAS1,PIF1,PIGB,PKM,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RLBP1,RNF111,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RSL24D1,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SEC11A,SEMA4B,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SKOR1,SLC24A1,SLC28A1,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPATA8,SPESP1,SPG21,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TMOD2,TMOD3,TNFAIP8L3,TPM1,TRIP4,TSPAN3,TTC23,TTLL13,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC13C,UNC45A,USP3,VPS13C,VPS33B,WDR61,WDR72,WDR73,WDR93,WHAMM,ZFAND6,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZWILCH chr15 51100000 100338915 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AAGAB,ABHD2,ACAN,ACSBG1,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,BBS4,BCL2A1,BCL2L10,BLM,BNC1,BNIP2,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CCNB2,CCPG1,CD276,CELF6,CGNL1,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTSH,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DMXL2,DNAJA4,DNM1P35,DNM1P41,DNM1P46,DPP8,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM214A,FAM219B,FAM63B,FAM81A,FAM96A,FANCI,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FLJ27352,FOXB1,FSD2,FURIN,GABARAPL3,GCNT3,GCOM1,GDPGP1,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,GTF2A2,HAPLN3,HCN4,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145783,LOC145820,LOC145837,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,LYSMD2,LYSMD4,MAN2A2,MAN2C1,MAP2K1,MAP2K5,MAPK6,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MGC15885,MIR1179,MIR1266,MIR1272,MIR1276,MIR1469,MIR184,MIR190A,MIR2116,MIR3175,MIR3529,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4713,MIR4714,MIR5003,MIR5094,MIR548H4,MIR549,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MNS1,MORF4L1,MPI,MRPL46,MRPS11,MTFMT,MTHFS,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NEDD4,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,OAZ2,ODF3L1,ONECUT1,PAQR5,PARP16,PARP6,PDCD7,PDE8A,PEAK1,PEX11A,PGPEP1L,PIAS1,PIF1,PIGB,PKM,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RLBP1,RNF111,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RSL24D1,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SEC11A,SEMA4B,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SKOR1,SLC24A1,SLC28A1,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPATA8,SPESP1,SPG21,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TMOD2,TMOD3,TNFAIP8L3,TPM1,TRIP4,TSPAN3,TTC23,TTLL13,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC13C,UNC45A,USP3,VPS13C,VPS33B,WDR61,WDR72,WDR73,WDR93,WHAMM,ZFAND6,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZWILCH chr15 51100000 55800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AP4E1,ARPP19,BCL2L10,CCPG1,CYP19A1,DCAF13P3,DMXL2,DYX1C1,DYX1C1-CCPG1,FAM214A,FLJ27352,GLDN,GNB5,LEO1,LYSMD2,MAPK6,MIR1266,MIR4713,MIR628,MYO5A,MYO5C,ONECUT1,PIGB,RAB27A,RSL24D1,SCG3,TMOD2,TMOD3,TNFAIP8L3,UNC13C,WDR72 chr15 51133648 53110642 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 AP4E1,ARPP19,BCL2L10,CYP19A1,DCAF13P3,DMXL2,FAM214A,GLDN,GNB5,LEO1,LYSMD2,MAPK6,MIR1266,MIR4713,MYO5A,MYO5C,ONECUT1,SCG3,TMOD2,TMOD3,TNFAIP8L3 chr15 51148721 51148821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 51163737 51194001 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 51254984 51255084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AP4E1 chr15 51260000 53070000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 AP4E1,ARPP19,BCL2L10,CYP19A1,DMXL2,FAM214A,GLDN,GNB5,LEO1,LYSMD2,MAPK6,MIR1266,MIR4713,MYO5A,MYO5C,ONECUT1,SCG3,TMOD2,TMOD3,TNFAIP8L3 chr15 51270162 51303804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP4E1 chr15 51271182 51306051 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP4E1 chr15 51345447 51345547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 51411348 51411443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 55143978 55144757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HEATR8,HEATR8-TTC4 chr15 51476324 51490195 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 51491881 51491946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 55150898 55151433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR8,HEATR8-TTC4 chr15 51536101 52345700 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP19A1,DMXL2,GLDN,LEO1,LYSMD2,MAPK6,SCG3,TMOD2,TMOD3 chr1 55158486 55169986 Gain and loss Pancreatic cancer SNP array 17952125 HEATR8,HEATR8-TTC4 chr15 51593229 51839151 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CYP19A1,DMXL2,GLDN chr15 51593230 51842367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP19A1,DMXL2,GLDN chr15 51594657 51842367 Gain and loss Pancreatic cancer SNP array 17952125 CYP19A1,DMXL2,GLDN chr1 5515988 5516121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 55167236 55378231 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf177,DHCR24,HEATR8,HEATR8-TTC4,PARS2,TTC22,TTC4 chr1 55167236 57851731 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BSND,C1orf168,C1orf177,C8A,C8B,DAB1,DHCR24,HEATR8,HEATR8-TTC4,LOC100507634,MIR4422,PARS2,PCSK9,PPAP2B,PRKAA2,TMEM61,TTC22,TTC4,USP24 chr15 51688331 51688404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLDN chr15 51725261 51725361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 51731466 51731525 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 51731466 51731525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 51743732 51743832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMXL2 chr1 55176042 55176125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEATR8-TTC4 chr1 55176638 55186485 Gain and loss Pancreatic cancer SNP array 17952125 HEATR8-TTC4,TTC4 chr15 51791863 51791963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMXL2 chr15 51838065 51838140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMXL2 chr15 51843693 51843797 Gain and loss Pancreatic cancer SNP array 17952125 DMXL2 chr15 51843693 51843799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DMXL2 chr15 51940915 52472755 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCL2L10,GNB5,LEO1,LYSMD2,MAPK6,SCG3,TMOD2,TMOD3 chr15 51987211 51990455 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCG3 chr15 51987236 51990450 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SCG3 chr15 52001004 53630068 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARPP19,BCL2L10,FAM214A,GNB5,LEO1,LYSMD2,MAPK6,MIR1266,MYO5A,MYO5C,ONECUT1,SCG3,TMOD2,TMOD3 chr1 55215501 55287500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf177,PARS2,TTC22 chr15 52157183 52157283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMOD3 chr1 55217241 55242544 Gain and loss Pancreatic cancer SNP array 17952125 PARS2 chr1 55219053 55230553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARS2 chr1 55219053 55230553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARS2 chr15 52238579 52258840 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LEO1 chr1 55224899 55225133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PARS2 chr15 52314521 52708098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L10,GNB5,MAPK6,MIR1266,MYO5A,MYO5C chr15 52314521 52708098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L10,GNB5,MAPK6,MIR1266,MYO5A,MYO5C chr15 52314551 52708094 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L10,GNB5,MAPK6,MIR1266,MYO5A,MYO5C chr1 55237205 55247052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC22 chr1 55237205 55247052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC22 chr1 55244062 55287927 Gain and loss Pancreatic cancer SNP array 17952125 C1orf177,TTC22 chr15 52478610 52478700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNB5 chr1 55249234 55875054 LOH Normal High-resolution SNP genotyping 21211785 BSND,C1orf177,DHCR24,LOC100507634,MIR4422,PCSK9,TMEM61,TTC22,USP24 chr15 52516527 52516620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5C chr15 52651157 52651211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5A chr15 52687674 52687774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5A chr15 52703252 52703320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5A chr15 52738120 52738152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5A chr15 52738190 52738426 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO5A chr15 52743189 52746293 Loss Normal 244K array 17666407 MYO5A chr15 52771736 52773615 Gain Normal 244K array 17666407 MYO5A chr15 52771752 52772752 Loss Renal cell carcinoma References 21215367 MYO5A chr1 55277808 55303111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf177 chr1 55277808 55303111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf177 chr15 52786699 52786852 Gain Normal 244K array 17666407 MYO5A chr15 52796400 52796779 Loss Normal 244K array 17666407 MYO5A chr15 52811960 52814422 Gain Normal 244K array 17666407 MYO5A chr15 52851606 52851930 Loss or gain Normal 244K array 17666407 ARPP19 chr1 55287501 55303000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf177 chr15 52897187 53837595 LOH Normal High-resolution SNP genotyping 21211785 FAM214A,ONECUT1,WDR72 chr15 52900000 59100000 Deletion Colorectal cancer GISTIC software 19359472 ADAM10,ALDH1A2,AQP9,CCPG1,CGNL1,DYX1C1,DYX1C1-CCPG1,FAM214A,FAM63B,FLJ27352,GCOM1,HSP90AB4P,LIPC,LOC145783,LOC283663,MIR628,MNS1,MYZAP,NEDD4,ONECUT1,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RFX7,RSL24D1,TCF12,TEX9,UNC13C,WDR72,ZNF280D chr15 52900000 59100000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 ADAM10,ALDH1A2,AQP9,CCPG1,CGNL1,DYX1C1,DYX1C1-CCPG1,FAM214A,FAM63B,FLJ27352,GCOM1,HSP90AB4P,LIPC,LOC145783,LOC283663,MIR628,MNS1,MYZAP,NEDD4,ONECUT1,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RFX7,RSL24D1,TCF12,TEX9,UNC13C,WDR72,ZNF280D chr15 52900000 59100000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ADAM10,ALDH1A2,AQP9,CCPG1,CGNL1,DYX1C1,DYX1C1-CCPG1,FAM214A,FAM63B,FLJ27352,GCOM1,HSP90AB4P,LIPC,LOC145783,LOC283663,MIR628,MNS1,MYZAP,NEDD4,ONECUT1,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RFX7,RSL24D1,TCF12,TEX9,UNC13C,WDR72,ZNF280D chr15 52900000 72700000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AAGAB,ADAM10,ALDH1A2,ANKDD1A,ANP32A,ANP32A-IT1,ANXA2,APH1B,AQP9,BNIP2,C15orf44,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCNB2,CCPG1,CELF6,CGNL1,CILP,CLN6,CLPX,CORO2B,CSNK1G1,CT62,DAPK2,DENND4A,DIS3L,DPP8,DYX1C1,DYX1C1-CCPG1,FAM214A,FAM63B,FAM81A,FAM96A,FBXL22,FEM1B,FLJ27352,FOXB1,GCNT3,GCOM1,GLCE,GRAMD2,GTF2A2,HERC1,HEXA,HEXA-AS1,HSP90AB4P,IGDCC3,IGDCC4,IQCH,IQCH-AS1,ITGA11,KBTBD13,KIAA0101,KIF23,LACTB,LARP6,LCTL,LDHAL6B,LINC00277,LINC00593,LIPC,LOC100130855,LOC145783,LOC145837,LOC283663,LRRC49,MAP2K1,MAP2K5,MEGF11,MGC15885,MIR1272,MIR190A,MIR2116,MIR4311,MIR4312,MIR4511,MIR548H4,MIR628,MIR629,MNS1,MTFMT,MYO1E,MYO9A,MYZAP,NARG2,NEDD4,NOX5,NR2E3,OAZ2,ONECUT1,PAQR5,PARP16,PARP6,PDCD7,PIAS1,PIF1,PIGB,PKM,PLEKHO2,POLR2M,PPIB,PRTG,PTPLAD1,PYGO1,RAB11A,RAB27A,RAB8B,RASL12,RBPMS2,RFX7,RNF111,RORA,RPL4,RPLP1,RPS27L,RSL24D1,SCARNA14,SENP8,SKOR1,SLC24A1,SLC51B,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNX1,SNX22,SPESP1,SPG21,TCF12,TEX9,THAP10,THSD4,TIPIN,TLE3,TLN2,TMEM202,TPM1,TRIP4,UACA,UBAP1L,UNC13C,USP3,VPS13C,WDR72,ZNF280D,ZNF609,ZWILCH chr15 52900000 78300000 Loss Breast cancer Microarray-based CGH 17133270 AAGAB,ADAM10,ADPGK,ADPGK-AS1,ALDH1A2,ANKDD1A,ANP32A,ANP32A-IT1,ANXA2,APH1B,AQP9,ARID3B,ARIH1,BBS4,BNIP2,C15orf27,C15orf39,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CCNB2,CCPG1,CD276,CELF6,CGNL1,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPLX3,CSK,CSNK1G1,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DAPK2,DENND4A,DIS3L,DNM1P35,DPP8,DYX1C1,DYX1C1-CCPG1,EDC3,ETFA,FAM214A,FAM219B,FAM63B,FAM81A,FAM96A,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FLJ27352,FOXB1,GCNT3,GCOM1,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,GTF2A2,HCN4,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HSP90AB4P,IGDCC3,IGDCC4,IMP3,IQCH,IQCH-AS1,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIF23,LACTB,LARP6,LCTL,LDHAL6B,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC145783,LOC145837,LOC253044,LOC283663,LOC283731,LOC440288,LOC645752,LOC729739,LOC91450,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MAP2K1,MAP2K5,MEGF11,MGC15885,MIR1272,MIR190A,MIR2116,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR548H4,MIR628,MIR629,MIR630,MIR631,MNS1,MPI,MTFMT,MYO1E,MYO9A,MYZAP,NARG2,NEDD4,NEIL1,NEO1,NOX5,NPTN,NR2E3,NRG4,OAZ2,ODF3L1,ONECUT1,PAQR5,PARP16,PARP6,PDCD7,PEAK1,PIAS1,PIF1,PIGB,PKM,PLEKHO2,PML,POLR2M,PPCDC,PPIB,PRTG,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RASL12,RBPMS2,RCN2,RFX7,RNF111,RORA,RPL4,RPLP1,RPP25,RPS27L,RSL24D1,SCAMP2,SCAMP5,SCAPER,SCARNA14,SEMA7A,SENP8,SIN3A,SKOR1,SLC24A1,SLC51B,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPESP1,SPG21,STOML1,STRA6,TBC1D21,TBC1D2B,TCF12,TEX9,THAP10,THSD4,TIPIN,TLE3,TLN2,TMEM202,TPM1,TRIP4,TSPAN3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBL7,ULK3,UNC13C,USP3,VPS13C,WDR72,ZNF280D,ZNF609,ZWILCH chr15 52900065 52928150 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM214A chr15 52905517 52938035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM214A chr15 52967503 52968503 Loss Renal cell carcinoma References 21215367 FAM214A chr15 52970446 52970716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM214A chr15 52977763 53014369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 52978453 55026540 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ONECUT1,UNC13C,WDR72 chr15 52983722 53022403 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 52995999 53034494 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 52999496 53015401 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 53003319 53015723 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 53003601 53013600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 53005508 53011716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 55304629 55453374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf177,DHCR24,TMEM61 chr1 55304629 55453374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf177,DHCR24,TMEM61 chr1 55306960 64917453 Copy number gain Normal High-resolution SNP genotyping 21211785 ALG6,ANGPTL3,ATG4C,BSND,C1orf168,C1orf177,C1orf87,C8A,C8B,CYP2J2,DAB1,DHCR24,DLEU2L,DOCK7,EFCAB7,FGGY,FOXD3,HOOK1,HSD52,INADL,ITGB3BP,JUN,KANK4,L1TD1,LINC00466,LOC100131060,LOC100507634,MIR4422,MIR4711,MYSM1,NFIA,OMA1,PCSK9,PGM1,PPAP2B,PRKAA2,ROR1,TACSTD2,TM2D1,TMEM61,UBE2U,USP1,USP24 chr1 55311536 55311636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53161628 53161722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53174433 53174533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53208828 53208928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53217185 53217505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 53236608 53236708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53242336 53242436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53260805 53276523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53260813 53276523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53260813 53276523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53283091 53369293 Copy number Melanoma CONEXIC algorithm 21949216 NOT_FOUND chr15 53283094 53369293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53283094 53369293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53283094 53369293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53340470 53905332 LOH Normal High-resolution SNP genotyping 21211785 WDR72 chr15 53357701 53534800 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 53365597 53365697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53365598 53365686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53365601 53365696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 55336566 55392807 Gain and loss Pancreatic cancer SNP array 17952125 DHCR24 chr15 53366872 53366962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53398425 53435137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53398425 53435137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53398741 53435137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53417838 53417907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53420493 53420580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53433899 53433999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53434729 53578074 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr15 53434730 53487866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53434730 53487866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53435134 53487796 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53442830 53444353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 53442839 53443839 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 53443046 53443135 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53443046 53443135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53444364 53445364 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 53452430 53452524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53453612 53453712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53453639 53453786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53497250 53587724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53497250 53587724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 553501 561250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 53509800 53587724 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53525001 53527000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 53535600 61214300 Loss Prostate cancer Array CGH 18632612 ADAM10,ALDH1A2,ANXA2,AQP9,BNIP2,CCNB2,CCPG1,CGNL1,DYX1C1,DYX1C1-CCPG1,FAM63B,FAM81A,FLJ27352,FOXB1,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MIR628,MNS1,MYO1E,MYZAP,NARG2,NEDD4,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RFX7,RNF111,RORA,RSL24D1,SLTM,TCF12,TEX9,UNC13C,WDR72,ZNF280D chr15 53541434 53575897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 55355543 55388968 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 53624184 53668342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53624184 53668342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 53625513 53668342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53698895 53822469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR72 chr15 53698895 53822469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR72 chr15 53699353 53752908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 53725004 53725087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53773036 53773141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 53840507 53840592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR72 chr15 53880031 55432108 LOH Normal High-resolution SNP genotyping 21211785 UNC13C,WDR72 chr15 53906413 54073127 Gain or loss Breast cancer - 20668451 WDR72 chr15 53906413 54073127 Gain or loss Cancer - 20668451 WDR72 chr15 53906413 54073127 Gain or loss Lung cancer - 20668451 WDR72 chr15 53906413 54073127 Gain or loss Ovarian cancer - 20668451 WDR72 chr15 53906413 54073127 Gain or loss Pancreas cancer - 20668451 WDR72 chr15 53906413 54073127 Gain or loss Prostate cancer - 20668451 WDR72 chr15 53906423 54073345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR72 chr15 53906423 54073345 Gain and loss Pancreatic cancer SNP array 17952125 WDR72 chr15 53906423 54073345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR72 chr15 53995726 53996548 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 WDR72 chr15 54013581 54046601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR72 chr15 54020382 54046851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR72 chr15 54031389 54065709 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR72 chr15 54035202 54035294 Gain and loss Pancreatic cancer SNP array 17952125 WDR72 chr15 54035202 54035294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR72 chr15 54036368 54054402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR72 chr15 54085203 54086651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54085245 54086360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 54109175 54109471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 54109175 54109471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54109178 54109471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54120000 54730000 Loss Breast cancer aCGH 21509527 UNC13C chr15 54125137 54125237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 54138287 54152315 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 54151117 54151433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 54151787 54152049 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 54166958 54258802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 54170024 54322775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54170024 54322775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54194048 54194249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 54196336 54196436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 54235235 54236202 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr15 54248779 54248979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 54261191 54261291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 554287 6656854 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DFFB,DVL1,ESPN,FAM132A,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,OR4F16,OR4F29,OR4F3,PANK4,PEX10,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WRAP73,ZBTB48 chr1 554305 554676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54354020 54354126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54354024 54354126 Gain and loss Pancreatic cancer SNP array 17952125 UNC13C chr15 54354026 54354126 Gain and loss Pancreatic cancer SNP array 17952125 UNC13C chr15 54364049 55292702 Loss Urothelial carcinoma array CGH validated by FISH 21177765 UNC13C chr1 554403 560267 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 54444936 54525363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54444936 54525363 Gain and loss Pancreatic cancer SNP array 17952125 UNC13C chr15 54444936 54525363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54446790 54684673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UNC13C chr15 54448754 54448991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr15 54448979 54449206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr1 554484 696962 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100133331,OR4F16,OR4F29,OR4F3 chr15 54508220 54544627 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 UNC13C chr15 54508299 54544627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54508299 54544627 Gain and loss Pancreatic cancer SNP array 17952125 UNC13C chr15 54508299 54544627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54512188 54512260 Gain and loss Pancreatic cancer SNP array 17952125 UNC13C chr15 54512188 54512260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr1 55455360 55645780 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 BSND,PCSK9,TMEM61,USP24 chr15 54566874 54613152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UNC13C chr15 54572598 54572656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UNC13C chr15 54574956 54588993 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54575001 54588993 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54577154 54588292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UNC13C chr15 54577184 54586741 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 UNC13C chr15 54577983 54588257 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54577983 54588993 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54577995 54588269 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 UNC13C chr15 54577995 54588269 Loss Normal Birdsuite, version 1.5.2 22087296 UNC13C chr15 54578090 54588993 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54578119 54588257 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54578119 54588993 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54578187 54588993 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54578287 54588993 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54578304 54588993 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54578304 54598042 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54578904 54608708 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr15 54579283 54608708 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UNC13C chr1 55460640 55461633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54607456 56535809 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCPG1,DYX1C1,DYX1C1-CCPG1,FLJ27352,MIR628,NEDD4,PIGB,PRTG,PYGO1,RAB27A,RFX7,RSL24D1,UNC13C chr15 54648508 54648564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr15 54677696 54677783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr15 54709671 54813576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54709671 54813576 Gain and loss Pancreatic cancer SNP array 17952125 UNC13C chr15 54709671 54813576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr15 54713530 54713605 Gain and loss Pancreatic cancer SNP array 17952125 UNC13C chr15 54713530 54713605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13C chr1 554742 554813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54752383 54753383 Loss Renal cell carcinoma References 21215367 UNC13C chr15 54770658 54771658 Gain Renal cell carcinoma References 21215367 UNC13C chr15 54799801 60821200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAM10,ALDH1A2,ANXA2,AQP9,BNIP2,CCNB2,CCPG1,CGNL1,DYX1C1,DYX1C1-CCPG1,FAM63B,FAM81A,FLJ27352,FOXB1,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MIR628,MNS1,MYO1E,MYZAP,NARG2,NEDD4,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RFX7,RNF111,RORA,RSL24D1,SLTM,TCF12,TEX9,UNC13C,ZNF280D chr1 554815 554882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54817105 54818105 Gain Renal cell carcinoma References 21215367 UNC13C chr15 54825502 54825802 Gain Renal cell carcinoma References 21215367 UNC13C chr1 55485330 55485405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 54876770 54876870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr1 554883 555926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54893522 54893622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr15 54901237 83883618 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAGAB,ACSBG1,ADAM10,ADAMTS7,ADPGK,ADPGK-AS1,AGPHD1,AGSK1,ALDH1A2,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANXA2,AP3B2,APH1B,AQP9,ARID3B,ARIH1,ARNT2,BBS4,BCL2A1,BNIP2,BTBD1,C15orf26,C15orf27,C15orf37,C15orf39,C15orf40,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CCNB2,CCPG1,CD276,CELF6,CGNL1,CHRNA3,CHRNA5,CHRNB4,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CSK,CSNK1G1,CSPG4,CT62,CTSH,CYP11A1,CYP1A1,CYP1A2,DAPK2,DENND4A,DIS3L,DNAJA4,DNM1P35,DPP8,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM219B,FAM63B,FAM81A,FAM96A,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FLJ27352,FOXB1,FSD2,GCNT3,GCOM1,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L9,GRAMD2,GTF2A2,HCN4,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,HSP90AB4P,IDH3A,IGDCC3,IGDCC4,IL16,IMP3,IQCH,IQCH-AS1,IREB2,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,LACTB,LARP6,LCTL,LDHAL6B,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC145783,LOC145837,LOC253044,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC338963,LOC390660,LOC440288,LOC440297,LOC645752,LOC646938,LOC727849,LOC729739,LOC729911,LOC91450,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MAP2K1,MAP2K5,MEGF11,MESDC1,MESDC2,MEX3B,MGC15885,MIR1272,MIR184,MIR190A,MIR2116,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR5003,MIR548H4,MIR549,MIR628,MIR629,MIR630,MIR631,MNS1,MORF4L1,MPI,MTFMT,MTHFS,MYO1E,MYO9A,MYZAP,NARG2,NEDD4,NEIL1,NEO1,NOX5,NPTN,NR2E3,NRG4,OAZ2,ODF3L1,PAQR5,PARP16,PARP6,PDCD7,PEAK1,PIAS1,PIF1,PIGB,PKM,PLEKHO2,PML,POLR2M,PPCDC,PPIB,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB27A,RAB8B,RASGRF1,RASL12,RBPMS2,RCN2,RFX7,RNF111,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RSL24D1,SCAMP2,SCAMP5,SCAPER,SCARNA14,SCARNA15,SEMA7A,SENP8,SH2D7,SIN3A,SKOR1,SLC24A1,SLC51B,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPESP1,SPG21,ST20,ST20-MTHFS,STARD5,STOML1,STRA6,TBC1D21,TBC1D2B,TCF12,TEX9,THAP10,THSD4,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TPM1,TRIP4,TSPAN3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC13C,USP3,VPS13C,WDR61,WHAMM,ZFAND6,ZNF280D,ZNF609,ZWILCH chr15 54908707 54908807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr15 54908962 54909032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr15 54916657 54916757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC13C chr15 54925830 54926096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 54925830 54926096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54926947 55296760 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr15 54976612 54977612 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 54976948 54977948 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 54979709 54980009 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 54988481 55048157 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 54990311 54991311 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 54998124 55368006 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 54998124 55368006 Gain or loss Cancer - 20668451 NOT_FOUND chr15 54998124 55368006 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 54998124 55368006 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 54998124 55368006 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 54998124 55368006 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 54998125 55368004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 54998125 55368004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 54998125 55368004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 55039512 55040512 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 55045732 55046732 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 55045732 55046732 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 55045815 55045887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 55514225 55514319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCSK9 chr15 55145631 55146631 Loss Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 55145631 55146631 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 55147797 55250750 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 55155375 55156375 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 55232340 55232440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 55281529 55306643 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 55325716 55325816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 55343246 55376902 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 55358060 55358163 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 55358060 55358163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 55366808 55669181 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCPG1,DYX1C1-CCPG1,MIR628,PIGB,RAB27A,RSL24D1 chr1 55536694 56212497 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100507634,MIR4422,USP24 chr15 55372501 55376700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 55374397 55374990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 55379639 55379700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 55423402 55596476 Gain Autism Exome sequencing and CGH 22495309 RAB27A,RSL24D1 chr15 55430140 55596476 Gain Autism Exome sequencing and CGH 22495309 RAB27A,RSL24D1 chr1 55545204 55545604 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr15 55455996 55630213 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PIGB,RAB27A,RSL24D1 chr15 55455997 55630205 Gain and loss Pancreatic cancer SNP array 17952125 PIGB,RAB27A,RSL24D1 chr15 55455997 55630212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGB,RAB27A,RSL24D1 chr15 55455997 55630212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGB,RAB27A,RSL24D1 chr15 55473511 55489230 Deletion Prostate cancer aCGH 22341455 RSL24D1 chr15 55484566 55484665 Gain and loss Pancreatic cancer SNP array 17952125 RSL24D1 chr15 55484566 55484665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSL24D1 chr1 55550352 55550398 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr1 55551056 55551124 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr1 55551132 55551198 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr15 55535566 59986776 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ADAM10,ALDH1A2,AQP9,BNIP2,CCNB2,CCPG1,CGNL1,DYX1C1,DYX1C1-CCPG1,FAM63B,FAM81A,FLJ27352,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MIR628,MNS1,MYO1E,MYZAP,NEDD4,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RFX7,RNF111,SLTM,TCF12,TEX9,ZNF280D chr1 55554220 55554546 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr1 55554316 55554545 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr15 55572977 60589537 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1062K arrays 21546498 ADAM10,ALDH1A2,AQP9,BNIP2,CCNB2,CCPG1,CGNL1,DYX1C1,DYX1C1-CCPG1,FAM63B,FAM81A,FLJ27352,FOXB1,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MIR628,MNS1,MYO1E,MYZAP,NEDD4,PIGB,POLR2M,PRTG,PYGO1,RAB27A,RFX7,RNF111,SLTM,TCF12,TEX9,ZNF280D chr15 55581995 55582053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB27A chr15 55600000 56600000 Gain Acute lymphoblastic leukemia - 21339820 CCPG1,DYX1C1,DYX1C1-CCPG1,FLJ27352,MIR628,NEDD4,PIGB,PRTG,PYGO1,RFX7 chr1 5556276 5556573 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 55671406 55815085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCPG1,DYX1C1,DYX1C1-CCPG1,FLJ27352 chr15 55671406 55815085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCPG1,DYX1C1,DYX1C1-CCPG1,FLJ27352 chr15 55671523 55797044 Gain and loss Pancreatic cancer SNP array 17952125 CCPG1,DYX1C1,DYX1C1-CCPG1,FLJ27352 chr1 555671 556076 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr15 55739040 55942204 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DYX1C1,DYX1C1-CCPG1,PRTG,PYGO1 chr1 55576208 55576314 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr15 55800000 100338915 Amplification Esophageal squamous carcinoma CGH 21637470 AAGAB,ABHD2,ACAN,ACSBG1,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANPEP,ANXA2,AP3B2,AP3S2,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARRDC4,ASB9P1,BBS4,BCL2A1,BLM,BNC1,BNIP2,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CCNB2,CD276,CELF6,CGNL1,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTSH,CYP11A1,CYP1A1,CYP1A2,DAPK2,DENND4A,DET1,DIS3L,DNAJA4,DNM1P35,DNM1P41,DNM1P46,DPP8,DYX1C1,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM219B,FAM63B,FAM81A,FAM96A,FANCI,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FOXB1,FSD2,FURIN,GABARAPL3,GCNT3,GCOM1,GDPGP1,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,GTF2A2,HAPLN3,HCN4,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCTL,LDHAL6B,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145783,LOC145820,LOC145837,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,LYSMD4,MAN2A2,MAN2C1,MAP2K1,MAP2K5,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MGC15885,MIR1179,MIR1272,MIR1276,MIR1469,MIR184,MIR190A,MIR2116,MIR3175,MIR3529,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR548H4,MIR549,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MNS1,MORF4L1,MPI,MRPL46,MRPS11,MTFMT,MTHFS,MYO1E,MYO9A,MYZAP,NARG2,NEDD4,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,OAZ2,ODF3L1,PAQR5,PARP16,PARP6,PDCD7,PDE8A,PEAK1,PEX11A,PGPEP1L,PIAS1,PIF1,PKM,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PYGO1,RAB11A,RAB8B,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RLBP1,RNF111,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SEC11A,SEMA4B,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SKOR1,SLC24A1,SLC28A1,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPATA8,SPESP1,SPG21,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TPM1,TRIP4,TSPAN3,TTC23,TTLL13,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC45A,USP3,VPS13C,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZWILCH chr15 55800000 57100000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 DYX1C1,MNS1,NEDD4,PRTG,PYGO1,RFX7,TEX9,ZNF280D chr15 55800000 65300000 Deletion Congenital diaphragmatic hernia BAC-array CGH 21341218 ADAM10,ALDH1A2,ANKDD1A,ANXA2,APH1B,AQP9,BNIP2,C2CD4A,C2CD4B,CA12,CCNB2,CGNL1,CSNK1G1,DAPK2,DYX1C1,FAM63B,FAM81A,FAM96A,FBXL22,FOXB1,GCNT3,GCOM1,GTF2A2,HERC1,HSP90AB4P,KIAA0101,LACTB,LDHAL6B,LIPC,LOC100130855,LOC145783,LOC283663,MGC15885,MIR1272,MIR190A,MIR2116,MNS1,MTFMT,MYO1E,MYZAP,NARG2,NEDD4,OAZ2,PIF1,PLEKHO2,POLR2M,PPIB,PRTG,PYGO1,RAB8B,RBPMS2,RFX7,RNF111,RORA,RPS27L,SLTM,SNX1,SNX22,SPG21,TCF12,TEX9,TLN2,TPM1,TRIP4,USP3,VPS13C,ZNF280D,ZNF609 chr15 55800000 65300000 Deletion Holoprosencephaly Array CGH 21359414 ADAM10,ALDH1A2,ANKDD1A,ANXA2,APH1B,AQP9,BNIP2,C2CD4A,C2CD4B,CA12,CCNB2,CGNL1,CSNK1G1,DAPK2,DYX1C1,FAM63B,FAM81A,FAM96A,FBXL22,FOXB1,GCNT3,GCOM1,GTF2A2,HERC1,HSP90AB4P,KIAA0101,LACTB,LDHAL6B,LIPC,LOC100130855,LOC145783,LOC283663,MGC15885,MIR1272,MIR190A,MIR2116,MNS1,MTFMT,MYO1E,MYZAP,NARG2,NEDD4,OAZ2,PIF1,PLEKHO2,POLR2M,PPIB,PRTG,PYGO1,RAB8B,RBPMS2,RFX7,RNF111,RORA,RPS27L,SLTM,SNX1,SNX22,SPG21,TCF12,TEX9,TLN2,TPM1,TRIP4,USP3,VPS13C,ZNF280D,ZNF609 chr15 55809196 55809291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 55821954 55856468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PYGO1 chr1 5558563 5558603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 55918279 55918346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRTG chr1 555925 555992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 55926365 55961018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRTG chr15 55961411 55961511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRTG chr1 556000 556068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 56032920 56145908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEDD4,PRTG chr15 56032920 56145908 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4,PRTG chr15 56032920 56145908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4,PRTG chr15 56041029 56042029 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 55605726 55607035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP24 chr15 56069401 56069506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 556070 556142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 56091715 56091815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 55610919 55610965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP24 chr1 55610969 55611621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP24 chr1 55611623 55611691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP24 chr1 55611699 55611765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP24 chr15 56141934 56142934 Gain Renal cell carcinoma References 21215367 NEDD4 chr1 55614781 55615113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP24 chr15 56172556 57537329 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC145783,MNS1,NEDD4,RFX7,TCF12,TEX9,ZNF280D chr15 56178150 56178250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEDD4 chr15 56202106 56235257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEDD4 chr15 56217700 56265402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEDD4 chr15 56217700 56265402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4 chr15 56217771 56265401 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4 chr15 56230058 56230125 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4 chr15 56230058 56230125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4 chr15 56230457 56230523 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4 chr15 56230457 56230523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4 chr15 56232001 56232068 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4 chr15 56232001 56232068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4 chr15 56234378 56234446 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4 chr15 56234378 56234446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4 chr15 56235627 56235693 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4 chr15 56235627 56235693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4 chr1 556239 556304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 56258052 56267108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEDD4 chr1 556317 557859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 56340188 56341188 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 56340355 56341355 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 56341165 56342165 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 56351392 56352392 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 56356683 56357683 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 56357010 56358010 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 56374249 56375249 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 56383789 56384109 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RFX7 chr15 56390205 56390297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RFX7 chr1 55645789 55656410 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 USP24 chr15 56490060 56648365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RFX7 chr15 56490060 56648365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RFX7 chr15 56511466 56648365 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 RFX7 chr15 56511467 56648364 Gain and loss Pancreatic cancer SNP array 17952125 RFX7 chr15 56527000 100211000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AAGAB,ABHD2,ACAN,ACSBG1,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANPEP,ANXA2,AP3B2,AP3S2,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARRDC4,ASB9P1,BBS4,BCL2A1,BLM,BNC1,BNIP2,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CCNB2,CD276,CELF6,CGNL1,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTSH,CYP11A1,CYP1A1,CYP1A2,DAPK2,DENND4A,DET1,DIS3L,DNAJA4,DNM1P35,DNM1P41,DPP8,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM219B,FAM63B,FAM81A,FAM96A,FANCI,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FOXB1,FSD2,FURIN,GABARAPL3,GCNT3,GCOM1,GDPGP1,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,GTF2A2,HAPLN3,HCN4,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCTL,LDHAL6B,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145783,LOC145820,LOC145837,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,MAN2A2,MAN2C1,MAP2K1,MAP2K5,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MGC15885,MIR1179,MIR1272,MIR1276,MIR1469,MIR184,MIR190A,MIR2116,MIR3175,MIR3529,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR548H4,MIR549,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MNS1,MORF4L1,MPI,MRPL46,MRPS11,MTFMT,MTHFS,MYO1E,MYO9A,MYZAP,NARG2,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,OAZ2,ODF3L1,PAQR5,PARP16,PARP6,PDCD7,PDE8A,PEAK1,PEX11A,PGPEP1L,PIAS1,PIF1,PKM,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PRC1,PSMA4,PSTPIP1,PTPLAD1,PTPN9,RAB11A,RAB8B,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RFX7,RGMA,RHCG,RLBP1,RNF111,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SEC11A,SEMA4B,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SKOR1,SLC24A1,SLC28A1,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPATA8,SPESP1,SPG21,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TPM1,TRIP4,TSPAN3,TTC23,TTLL13,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC45A,USP3,VPS13C,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZWILCH chr1 55656480 55688727 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 LOC100507634,USP24 chr15 56618634 56618840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 55662566 55662666 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr1 55662567 55662666 Gain and loss Pancreatic cancer SNP array 17952125 USP24 chr15 56675801 56829469 Copy number Normal Illumina Human610-Quad BeadChip 21660214 MNS1,TEX9 chr15 56675802 56829469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MNS1,TEX9 chr15 56675802 56829469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MNS1,TEX9 chr15 56676369 56829469 Gain and loss Pancreatic cancer SNP array 17952125 MNS1,TEX9 chr15 56678931 56723872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MNS1,TEX9 chr15 56679625 56679726 Gain and loss Pancreatic cancer SNP array 17952125 TEX9 chr15 56679625 56679726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX9 chr15 56700141 56700458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TEX9 chr15 56765871 56767069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 56765902 56766108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 56770594 56772616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 56770594 56772616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 55678169 56219845 LOH Normal High-resolution SNP genotyping 21211785 LOC100507634,MIR4422,USP24 chr15 56783323 56783645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 56783328 56783645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 56783406 56783645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 556823 557306 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr15 56839957 56840172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 56839958 56840172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 56839958 56840172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 56850684 56934101 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 ZNF280D chr15 56850685 56937024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF280D chr15 56850685 56937024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF280D chr15 56850806 56934051 Gain and loss Pancreatic cancer SNP array 17952125 ZNF280D chr15 56927621 57051456 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ZNF280D chr15 56958537 57013144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF280D chr15 56958537 57013144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF280D chr15 56958920 57013070 Gain and loss Pancreatic cancer SNP array 17952125 ZNF280D chr15 56978222 57283935 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC145783,TCF12,ZNF280D chr15 56990937 56991044 Gain and loss Pancreatic cancer SNP array 17952125 ZNF280D chr15 56990937 56991044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF280D chr1 55700304 55701813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 57047183 57047283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 57067157 57176541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 57067157 57176541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 57067157 57176543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 57100000 61500000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ADAM10,ALDH1A2,ANXA2,AQP9,BNIP2,CCNB2,CGNL1,FAM63B,FAM81A,FOXB1,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MYO1E,MYZAP,NARG2,POLR2M,RNF111,RORA,SLTM,TCF12 chr15 57100000 61500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM10,ALDH1A2,ANXA2,AQP9,BNIP2,CCNB2,CGNL1,FAM63B,FAM81A,FOXB1,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MYO1E,MYZAP,NARG2,POLR2M,RNF111,RORA,SLTM,TCF12 chr15 57100000 61500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM10,ALDH1A2,ANXA2,AQP9,BNIP2,CCNB2,CGNL1,FAM63B,FAM81A,FOXB1,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MYO1E,MYZAP,NARG2,POLR2M,RNF111,RORA,SLTM,TCF12 chr15 57100000 61500000 Loss Adenocarcinoma array-CGH 19607727 ADAM10,ALDH1A2,ANXA2,AQP9,BNIP2,CCNB2,CGNL1,FAM63B,FAM81A,FOXB1,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MYO1E,MYZAP,NARG2,POLR2M,RNF111,RORA,SLTM,TCF12 chr15 57100000 61500000 Loss Squamous cell cancer array-CGH 19607727 ADAM10,ALDH1A2,ANXA2,AQP9,BNIP2,CCNB2,CGNL1,FAM63B,FAM81A,FOXB1,GCNT3,GCOM1,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC145783,LOC283663,MIR2116,MYO1E,MYZAP,NARG2,POLR2M,RNF111,RORA,SLTM,TCF12 chr1 55710000 59160000 Loss Breast cancer aCGH 21509527 C1orf168,C8A,C8B,DAB1,MYSM1,OMA1,PPAP2B,PRKAA2,TACSTD2 chr15 57151131 57151231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 57155586 57156586 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 57170466 57171466 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 57174836 57175974 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 57184612 57204535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC145783 chr15 57184612 57204535 Gain and loss Pancreatic cancer SNP array 17952125 LOC145783 chr15 57184612 57204535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC145783 chr15 57191730 57192730 Loss Renal cell carcinoma References 21215367 LOC145783 chr15 57199825 57200825 Loss Renal cell carcinoma References 21215367 LOC145783 chr15 57215461 57452362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57215461 57452362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57215902 57452363 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57227191 57227362 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57230469 57230559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57244668 100182183 Duplication Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 AAGAB,ABHD2,ACAN,ACSBG1,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANPEP,ANXA2,AP3B2,AP3S2,APH1B,AQP9,ARID3B,ARIH1,ARNT2,ARRDC4,ASB9P1,BBS4,BCL2A1,BLM,BNC1,BNIP2,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CCNB2,CD276,CELF6,CGNL1,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTSH,CYP11A1,CYP1A1,CYP1A2,DAPK2,DENND4A,DET1,DIS3L,DNAJA4,DNM1P35,DNM1P41,DPP8,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM219B,FAM63B,FAM81A,FAM96A,FANCI,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FOXB1,FSD2,FURIN,GABARAPL3,GCNT3,GCOM1,GDPGP1,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,GTF2A2,HAPLN3,HCN4,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCTL,LDHAL6B,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100130855,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC145837,LOC253044,LOC254559,LOC283663,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,MAN2A2,MAN2C1,MAP2K1,MAP2K5,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MGC15885,MIR1179,MIR1272,MIR1276,MIR1469,MIR184,MIR190A,MIR2116,MIR3175,MIR3529,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR548H4,MIR549,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MORF4L1,MPI,MRPL46,MRPS11,MTFMT,MTHFS,MYO1E,MYO9A,MYZAP,NARG2,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,OAZ2,ODF3L1,PAQR5,PARP16,PARP6,PDCD7,PDE8A,PEAK1,PEX11A,PGPEP1L,PIAS1,PIF1,PKM,PLEKHO2,PLIN1,PML,POLG,POLR2M,PPCDC,PPIB,PRC1,PSMA4,PSTPIP1,PTPLAD1,PTPN9,RAB11A,RAB8B,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RGMA,RHCG,RLBP1,RNF111,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SEC11A,SEMA4B,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SKOR1,SLC24A1,SLC28A1,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPATA8,SPESP1,SPG21,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TPM1,TRIP4,TSPAN3,TTC23,TTLL13,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC45A,USP3,VPS13C,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZWILCH chr15 57276477 57276530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF12 chr15 57286332 57287995 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57286334 57287997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57286334 57287997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57292136 57292279 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57292139 57292279 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57292139 57292279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57296137 57296217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57305131 57305231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF12 chr15 57420805 57420908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57420811 57420908 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57420816 57420911 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57434283 57448696 Indels Normal Affymetrix and Illumina arrays 20811451 TCF12 chr15 57469699 57469806 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57469699 57469806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57480714 57481495 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57480714 57481495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57488396 57488504 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57488396 57488505 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57488396 57488506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF12 chr15 57500179 57500509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TCF12 chr15 57517664 57602479 Gain and loss Pancreatic cancer SNP array 17952125 LOC283663,TCF12 chr15 57517664 57603043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283663,TCF12 chr15 57517664 57603043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283663,TCF12 chr15 57546807 57547263 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57548344 57580045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCF12 chr15 57567589 57568184 Gain and loss Pancreatic cancer SNP array 17952125 TCF12 chr15 57598670 57598764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283663 chr15 57653593 57653713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 57653594 57653713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 57653594 57653713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 57655119 57655214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 57655121 57655214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 57655122 57655209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 57666065 57666147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 55768061 55768165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 57683100 57806956 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 CGNL1 chr15 57691275 57700315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGNL1 chr15 57691275 57700315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGNL1 chr15 57691415 57699496 Gain and loss Pancreatic cancer SNP array 17952125 CGNL1 chr15 57718357 57736985 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CGNL1 chr15 57718357 57737011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGNL1 chr15 57718357 57737011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGNL1 chr15 57718358 57736991 Gain and loss Pancreatic cancer SNP array 17952125 CGNL1 chr15 57738637 57769025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGNL1 chr15 57738637 57769025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGNL1 chr15 57742356 57768810 Gain and loss Pancreatic cancer SNP array 17952125 CGNL1 chr15 57784199 57784259 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 CGNL1 chr15 57803600 57803700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CGNL1 chr15 57847755 57847855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 57847843 57848637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 557859 557930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 57888866 57889866 Loss Renal cell carcinoma References 21215367 GCOM1,MYZAP chr15 57894783 57894852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCOM1,MYZAP chr15 57898196 57898296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCOM1,MYZAP chr15 57900310 57900410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCOM1,MYZAP chr15 57927463 57928463 Loss Renal cell carcinoma References 21215367 GCOM1,MYZAP chr15 57930371 59125964 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM10,ALDH1A2,AQP9,FAM63B,GCOM1,HSP90AB4P,LIPC,MYZAP,POLR2M chr15 57931572 57932572 Loss Renal cell carcinoma References 21215367 GCOM1,MYZAP chr15 57931616 57932616 Loss Renal cell carcinoma References 21215367 GCOM1,MYZAP chr1 557932 557999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 57933398 58431366 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ALDH1A2,AQP9,GCOM1,MYZAP,POLR2M chr15 57951224 57952593 Gain and loss Pancreatic cancer SNP array 17952125 GCOM1,MYZAP chr15 57952619 57952986 Gain and loss Pancreatic cancer SNP array 17952125 GCOM1,MYZAP chr15 57952619 57952986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GCOM1,MYZAP chr15 57996653 58022235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GCOM1,POLR2M chr1 558000 558681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 58042170 58372552 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDH1A2 chr15 58045701 58050200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 58059812 58060812 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 58061110 58100602 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 58066607 58066691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58083501 58086000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 58083713 58085434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 58083713 58085434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 58084427 58085434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 58088126 58088226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58102331 58103331 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 58102902 58103902 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 58108479 58109479 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 58148576 58148675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58158418 58159418 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 58159305 58160305 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 58212515 58212600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 558224 558620 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr15 58259677 58259709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALDH1A2 chr15 58297468 58474968 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ALDH1A2,AQP9 chr15 58327303 58327358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ALDH1A2 chr15 58426625 58477477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AQP9 chr15 58426625 58477477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AQP9 chr15 58426643 58477477 Gain and loss Pancreatic cancer SNP array 17952125 AQP9 chr15 58434385 58434485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AQP9 chr15 58439270 58439345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AQP9 chr15 58444941 58445031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AQP9 chr15 58464597 58464687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AQP9 chr15 58478274 58478617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 58497514 58497593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58499100 58558636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 58499100 58558636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 58502562 58558594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 55852628 55852723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58567776 59308794 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ADAM10,FAM63B,HSP90AB4P,LIPC,RNF111,SLTM chr15 58576753 59308709 Gain and loss Pancreatic cancer SNP array 17952125 ADAM10,FAM63B,HSP90AB4P,LIPC,RNF111,SLTM chr15 58576755 59308709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM10,FAM63B,HSP90AB4P,LIPC,RNF111,SLTM chr15 58576755 59308709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM10,FAM63B,HSP90AB4P,LIPC,RNF111,SLTM chr15 58580603 58580662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 58582089 58582362 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr15 58616415 59304510 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM10,FAM63B,HSP90AB4P,LIPC,RNF111,SLTM chr15 58640313 58640413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 55867068 55867168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58682590 58682705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58689712 58689802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58697044 58697310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 558707 558776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 55874519 55874603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 58759705 58759805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIPC chr1 558778 558984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 58782592 58782692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIPC chr15 58786823 58786892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIPC chr15 58794043 58794114 Gain and loss Pancreatic cancer SNP array 17952125 LIPC chr15 58816260 58816377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPC chr15 58816261 58816349 Gain and loss Pancreatic cancer SNP array 17952125 LIPC chr15 58818810 58818910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIPC chr15 58903782 58924792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADAM10 chr15 58933355 58933455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM10 chr1 558939 559619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 55895926 56693768 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 58965330 58965423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM10 chr15 59011012 59011954 Loss Normal 244K array 17666407 ADAM10 chr15 59021777 59021877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM10 chr15 59023835 59023934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM10 chr1 55909067 55909813 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 59100000 59300000 Amplification Lung cancer QPCR 19238632 FAM63B,RNF111,SLTM chr15 59100000 59300000 Amplification Non-small cell lung cancer FISH 19255323 FAM63B,RNF111,SLTM chr15 59100000 59300000 Copy number head and neck squamous cell carcinoma FISH 19318576 FAM63B,RNF111,SLTM chr15 59100000 59300000 Copy number Non-small cell lung cancer Quantitative Real-Time PCR 18509184 FAM63B,RNF111,SLTM chr15 59100000 67500000 Amplification Hepatocellular carcinoma Array CGH 16750200 AAGAB,ANKDD1A,ANXA2,APH1B,BNIP2,C15orf44,C2CD4A,C2CD4B,CA12,CCNB2,CILP,CLPX,CSNK1G1,DAPK2,DENND4A,DIS3L,DPP8,FAM63B,FAM81A,FAM96A,FBXL22,FOXB1,GCNT3,GTF2A2,HERC1,IGDCC3,IGDCC4,KBTBD13,KIAA0101,LACTB,LCTL,LDHAL6B,LOC100130855,MAP2K1,MEGF11,MGC15885,MIR1272,MIR190A,MIR2116,MIR4311,MIR4511,MTFMT,MYO1E,NARG2,OAZ2,PARP16,PDCD7,PIF1,PLEKHO2,PPIB,PTPLAD1,RAB11A,RAB8B,RASL12,RBPMS2,RNF111,RORA,RPL4,RPS27L,SCARNA14,SLC24A1,SLC51B,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNX1,SNX22,SPG21,TIPIN,TLN2,TPM1,TRIP4,UBAP1L,USP3,VPS13C,ZNF609,ZWILCH chr15 59100000 67500000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AAGAB,ANKDD1A,ANXA2,APH1B,BNIP2,C15orf44,C2CD4A,C2CD4B,CA12,CCNB2,CILP,CLPX,CSNK1G1,DAPK2,DENND4A,DIS3L,DPP8,FAM63B,FAM81A,FAM96A,FBXL22,FOXB1,GCNT3,GTF2A2,HERC1,IGDCC3,IGDCC4,KBTBD13,KIAA0101,LACTB,LCTL,LDHAL6B,LOC100130855,MAP2K1,MEGF11,MGC15885,MIR1272,MIR190A,MIR2116,MIR4311,MIR4511,MTFMT,MYO1E,NARG2,OAZ2,PARP16,PDCD7,PIF1,PLEKHO2,PPIB,PTPLAD1,RAB11A,RAB8B,RASL12,RBPMS2,RNF111,RORA,RPL4,RPS27L,SCARNA14,SLC24A1,SLC51B,SLTM,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNX1,SNX22,SPG21,TIPIN,TLN2,TPM1,TRIP4,UBAP1L,USP3,VPS13C,ZNF609,ZWILCH chr15 59129294 59130294 Loss Cancer Human 24 color M-FISH 21215367 FAM63B chr15 59129294 59130294 Loss Renal cell carcinoma References 21215367 FAM63B chr15 59160873 59304510 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RNF111,SLTM chr15 59169369 59169562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 59283762 59283855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF111 chr15 59300000 63700000 Deletion Mental retardation array CGH 17124404 ANXA2,APH1B,BNIP2,C2CD4A,C2CD4B,CA12,CCNB2,FAM81A,FOXB1,GCNT3,GTF2A2,LACTB,LDHAL6B,MGC15885,MIR190A,MIR2116,MYO1E,NARG2,RAB8B,RNF111,RORA,RPS27L,TLN2,TPM1,VPS13C chr1 559334 559811 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr15 59435870 59463043 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO1E chr15 59472301 59488000 Deletion Glioma mate-paired sequence 20126413 MYO1E chr15 59475461 59485274 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MYO1E chr15 59487911 62137778 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.19 20877625 ANXA2,BNIP2,FAM81A,FOXB1,GCNT3,GTF2A2,LDHAL6B,MYO1E,NARG2,RORA chr15 59504531 59504610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO1E chr15 59515574 59515674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1E chr15 59534681 61567683 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA2,BNIP2,FAM81A,FOXB1,GCNT3,GTF2A2,MYO1E,NARG2,RORA chr15 59566429 59566529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1E chr15 59567162 59567262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1E chr15 59600999 59645735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO1E chr1 559619 560165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 59698026 60354169 LOH Normal High-resolution SNP genotyping 21211785 BNIP2,FAM81A,FOXB1,GCNT3,GTF2A2 chr15 59752041 59752166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM81A chr15 59799558 59811889 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM81A chr15 59861515 59861615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 59900937 59901037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 59931884 60139939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BNIP2,GTF2A2 chr15 59931884 60139939 Gain and loss Pancreatic cancer SNP array 17952125 BNIP2,GTF2A2 chr15 59931884 60139939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BNIP2,GTF2A2 chr15 59936786 59936881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTF2A2 chr15 59945953 59946047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTF2A2 chr15 60044252 60044352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 60057020 60247620 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr15 60085623 60085723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 60141556 60186596 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 60146468 60150401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60146468 60150401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60146494 60148395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 60243029 60244774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60243029 60244774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60248389 60254287 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 60282719 60282808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 60322020 60328286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 60322074 60323649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60322857 60322939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60323857 60324012 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 60323857 60324012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60325924 60333812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60388368 60389368 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 60441518 60441822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 60441529 60441822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 60469501 60471500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 60471369 60471932 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 60493289 60495165 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 60493385 60495084 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 60495914 60496014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 60496939 61191426 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA2,NARG2,RORA chr1 56053497 56064495 Deletion Attention deficit hyperactivity disorder - 22138692 NOT_FOUND chr1 5605419 5630525 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 MIR4417 chr15 60561565 60562565 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 60561742 60562742 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 60561749 60562749 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 60561831 60562831 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 56058467 56058499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 60589537 62680736 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1063K arrays 21546498 ANXA2,C2CD4A,C2CD4B,NARG2,RORA,VPS13C chr15 60642550 60643550 Loss Renal cell carcinoma References 21215367 ANXA2 chr15 60657164 60657249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANXA2 chr15 60657244 60657381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANXA2 chr15 60659780 60660780 Loss Renal cell carcinoma References 21215367 ANXA2 chr15 60702415 60703415 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 60726801 60923882 Copy number Lung cancer - 20668451 NARG2,RORA chr15 60726801 60923882 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NARG2,RORA chr15 60726801 60923882 Gain or loss Breast cancer - 20668451 NARG2,RORA chr15 60726801 60923882 Gain or loss Cancer - 20668451 NARG2,RORA chr15 60726801 60923882 Gain or loss Lung cancer - 20668451 NARG2,RORA chr15 60726801 60923882 Gain or loss Ovarian cancer - 20668451 NARG2,RORA chr15 60726801 60923882 Gain or loss Pancreas cancer - 20668451 NARG2,RORA chr15 60726801 60923882 Gain or loss Prostate cancer - 20668451 NARG2,RORA chr15 60726802 60920733 Gain and loss Pancreatic cancer SNP array 17952125 NARG2,RORA chr15 60726802 60923883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NARG2,RORA chr15 60726802 60923883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NARG2,RORA chr15 60735076 60735184 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NARG2 chr15 60742840 60744357 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NARG2 chr15 60767847 60795244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NARG2,RORA chr15 60795087 60795387 Gain Renal cell carcinoma References 21215367 RORA chr15 60821201 61074200 Copy number Normal ReadDepth: A Parallel R Package 21305028 RORA chr15 60822000 100211000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AAGAB,ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,ANPEP,AP3B2,AP3S2,APH1B,ARID3B,ARIH1,ARNT2,ARRDC4,ASB9P1,BBS4,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf44,C15orf59,C15orf60,C15orf61,C2CD4A,C2CD4B,CA12,CALML4,CCDC33,CD276,CELF6,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1G1,CSPG4,CT62,CTSH,CYP11A1,CYP1A1,CYP1A2,DAPK2,DENND4A,DET1,DIS3L,DNAJA4,DNM1P35,DNM1P41,DPP8,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM219B,FAM96A,FANCI,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,HAPLN3,HCN4,HDDC3,HDGFRP3,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLHL25,LACTB,LARP6,LCTL,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LMAN1L,LOC100130855,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC145837,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRC49,MAN2A2,MAN2C1,MAP2K1,MAP2K5,MCTP2,MEF2A,MEGF11,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MGC15885,MIR1179,MIR1272,MIR1276,MIR1469,MIR184,MIR190A,MIR3175,MIR3529,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR548H4,MIR549,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MORF4L1,MPI,MRPL46,MRPS11,MTFMT,MTHFS,MYO9A,NEIL1,NEO1,NGRN,NMB,NOX5,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,OAZ2,ODF3L1,PAQR5,PARP16,PARP6,PDCD7,PDE8A,PEAK1,PEX11A,PGPEP1L,PIAS1,PIF1,PKM,PLEKHO2,PLIN1,PML,POLG,PPCDC,PPIB,PRC1,PSMA4,PSTPIP1,PTPLAD1,PTPN9,RAB11A,RAB8B,RASGRF1,RASL12,RBPMS2,RCCD1,RCN2,RGMA,RHCG,RLBP1,RORA,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SEC11A,SEMA4B,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SKOR1,SLC24A1,SLC28A1,SLC51B,SLCO3A1,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPATA8,SPESP1,SPG21,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TBC1D21,TBC1D2B,THAP10,THSD4,TICRR,TIPIN,TLE3,TLN2,TM6SF1,TMC3,TMED3,TMEM202,TPM1,TRIP4,TSPAN3,TTC23,TTLL13,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC45A,USP3,VPS13C,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF609,ZNF710,ZNF774,ZSCAN2,ZWILCH chr15 60861448 60862448 Gain Renal cell carcinoma References 21215367 RORA chr15 60861750 60862750 Gain Renal cell carcinoma References 21215367 RORA chr15 60864474 60864574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 60866497 60867497 Loss Renal cell carcinoma References 21215367 RORA chr15 60866944 60867244 Loss Renal cell carcinoma References 21215367 RORA chr15 60868815 60868915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 60898806 60934203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RORA chr15 60902912 60907535 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RORA chr15 60903209 60903293 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 60903209 60903293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 60909931 60910004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 60914215 60915215 Loss Renal cell carcinoma References 21215367 RORA chr15 60917848 60917948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr1 5609284 5609319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 60948591 61059666 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 RORA chr1 56100000 99700000 Copy number Liver carcinoma Qiagen DNeasy extraction kit 19366792 ABCA4,ABCD3,ACADM,AK4,AK5,ALG14,ALG6,ANGPTL3,ANKRD13C,ARHGAP29,ASB17,ATG4C,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf141,C1orf146,C1orf168,C1orf173,C1orf180,C1orf52,C1orf87,C8A,C8B,CACHD1,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CRYZ,CTBS,CTH,CYP2J2,CYR61,DAB1,DDAH1,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DPYD,DPYD-AS1,DR1,EFCAB7,ELTD1,EPHX4,EVI5,F3,FAM69A,FAM73A,FGGY,FLJ27354,FLJ31662,FNBP1L,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG12,GNG12-AS1,GNG5,GTF2B,HFM1,HHLA3,HOOK1,HS2ST1,HSD52,HSP90B3P,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,KIAA1107,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LMO4,LOC100129046,LOC100129620,LOC100131060,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR5,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR3117,MIR3671,MIR4423,MIR4711,MIR4794,MIR548AP,MIR760,MSH4,MTF2,MYSM1,NEGR1,NEGR1-IT1,NEXN,NFIA,ODF2L,OMA1,PDE4B,PGM1,PIGK,PIN1P1,PKN2,PPAP2B,PRKAA2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RAVER2,RBMXL1,ROR1,RPAP2,RPE65,RPF1,RPL5,RWDD3,SAMD13,SEP15,SERBP1,SGIP1,SH3GLB1,SLC35D1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TACSTD2,TCTEX1D1,TGFBR3,TM2D1,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TTLL7,TYW3,UBE2U,UOX,USP1,USP33,WDR63,WDR78,WLS,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr15 61027811 61027890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61030000 61980000 Loss Breast cancer aCGH 21509527 RORA chr15 61032425 61033365 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 61032425 61033374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61033017 61034017 Loss Renal cell carcinoma References 21215367 RORA chr15 61033033 61033333 Loss Renal cell carcinoma References 21215367 RORA chr15 61034269 61035269 Loss Renal cell carcinoma References 21215367 RORA chr15 61036133 61037133 Gain Renal cell carcinoma References 21215367 RORA chr15 61043059 61044059 Loss Renal cell carcinoma References 21215367 RORA chr15 61046797 61046897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61074201 62263300 Copy number Normal ReadDepth: A Parallel R Package 21305028 RORA,VPS13C chr15 61087212 61088212 Loss Renal cell carcinoma References 21215367 RORA chr15 61109944 61110094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61121891 61151164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61121891 61151164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61121941 61151164 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 61127425 61128225 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 61148109 61149109 Gain Renal cell carcinoma References 21215367 RORA chr15 61154715 61155715 Gain Renal cell carcinoma References 21215367 RORA chr15 61184566 61184666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61201072 61221305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61201072 61221305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61201072 61221307 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 61216535 61216736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61220819 63298482 Loss Developmental delay affymetrix genechip 500K/SNP 6.63 array 21147756 C2CD4A,C2CD4B,MGC15885,MIR190A,RORA,TLN2,VPS13C chr15 61228796 61228872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RORA chr15 61232603 61236794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61232603 61236794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORA chr1 561232 682895 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100133331,OR4F16,OR4F29,OR4F3 chr15 61233284 61236729 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 61239607 61240607 Loss Renal cell carcinoma References 21215367 RORA chr1 561251 714000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 chr15 61253592 61254592 Gain Renal cell carcinoma References 21215367 RORA chr15 61254884 61254962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61268781 61347028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61268781 61347028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61268858 61345305 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 61350261 61350361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61356843 61385166 Gain or loss Breast cancer - 20668451 RORA chr15 61356843 61385166 Gain or loss Cancer - 20668451 RORA chr15 61356843 61385166 Gain or loss Lung cancer - 20668451 RORA chr15 61356843 61385166 Gain or loss Ovarian cancer - 20668451 RORA chr15 61356843 61385166 Gain or loss Pancreas cancer - 20668451 RORA chr15 61356843 61385166 Gain or loss Prostate cancer - 20668451 RORA chr15 61356844 61385166 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 61356860 61385807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61356860 61385807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61387346 61387436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61387399 61387474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61402782 61461128 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 RORA chr15 61402784 61461128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61402784 61461128 Gain and loss Pancreatic cancer SNP array 17952125 RORA chr15 61402784 61461128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RORA chr15 61412641 61445848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RORA chr15 61416525 61416625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61423666 63283490 LOH Normal High-resolution SNP genotyping 21211785 C2CD4A,C2CD4B,MGC15885,MIR190A,RORA,TLN2,VPS13C chr15 61430791 61440509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RORA chr15 61431593 61431693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61455414 61455511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61473863 62930633 LOH Normal High-resolution SNP genotyping 21211785 C2CD4A,C2CD4B,MGC15885,RORA,VPS13C chr15 61479551 62997063 LOH Normal High-resolution SNP genotyping 21211785 C2CD4A,C2CD4B,MGC15885,RORA,TLN2,VPS13C chr15 61479801 61479901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61480994 62997063 LOH Normal High-resolution SNP genotyping 21211785 C2CD4A,C2CD4B,MGC15885,RORA,TLN2,VPS13C chr15 61500000 64900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APH1B,C2CD4A,C2CD4B,CA12,CSNK1G1,DAPK2,FAM96A,FBXL22,HERC1,KIAA0101,LACTB,LOC100130855,MGC15885,MIR190A,PPIB,RAB8B,RORA,RPS27L,SNX1,SNX22,TLN2,TPM1,TRIP4,USP3,VPS13C,ZNF609 chr15 61500000 64900000 Loss Breast cancer aCGH 21045282 APH1B,C2CD4A,C2CD4B,CA12,CSNK1G1,DAPK2,FAM96A,FBXL22,HERC1,KIAA0101,LACTB,LOC100130855,MGC15885,MIR190A,PPIB,RAB8B,RORA,RPS27L,SNX1,SNX22,TLN2,TPM1,TRIP4,USP3,VPS13C,ZNF609 chr15 61519630 61519675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RORA chr15 61583862 61670716 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 61583862 61670716 Gain or loss Cancer - 20668451 NOT_FOUND chr15 61583862 61670716 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 61583862 61670716 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 61583862 61670716 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 61583862 61670716 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 61583863 61670712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61583863 61670712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61583986 61673891 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 61587347 61588347 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 61587347 61588347 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 61591847 61591947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 61637310 61638310 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 61647476 61648476 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 61676649 61681671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61676649 61681671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 61676649 61681671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61684723 61685723 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 61687869 61913200 Copy number Lung cancer - 20668451 NOT_FOUND chr15 61687869 61913200 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 61687869 61913200 Gain or loss Cancer - 20668451 NOT_FOUND chr15 61687869 61913200 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 61687869 61913200 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 61687869 61913200 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 61687869 61913200 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 61687871 61913143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 61687871 61913200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61687871 61913200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 56173871 56174191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 61766018 61783666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 56177248 56177530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61811778 61811871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 61939327 63141107 LOH Normal High-resolution SNP genotyping 21211785 C2CD4A,C2CD4B,MGC15885,MIR190A,TLN2,VPS13C chr15 61950182 61950271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 61950182 61950271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61977557 62002023 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 61983493 61984593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 61986288 62125574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61986288 62125574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 61986289 62119519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 56200000 58700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C1orf168,C8A,C8B,DAB1,PPAP2B,PRKAA2 chr1 56200000 58700000 Translocation Developmental delay FISH 19490664 C1orf168,C8A,C8B,DAB1,PPAP2B,PRKAA2 chr1 56200000 60900000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 C1orf168,C1orf87,C8A,C8B,CYP2J2,DAB1,FGGY,HOOK1,HSD52,JUN,LOC100131060,MIR4711,MYSM1,OMA1,PPAP2B,PRKAA2,TACSTD2 chr1 56202184 118877972 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ABCA4,ABCD3,ACADM,ACTG1P4,ADORA3,AGL,AHCYL1,AK4,AK5,AKNAD1,AKR7A2P1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATG4C,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf141,C1orf146,C1orf162,C1orf168,C1orf173,C1orf180,C1orf194,C1orf52,C1orf87,C1orf88,C8A,C8B,CACHD1,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CSDE1,CSF1,CTBS,CTH,CTTNBP2NL,CYB561D1,CYMP,CYP2J2,CYR61,DAB1,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DEPDC1,DIRAS3,DLEU2L,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,EFCAB7,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FAM73A,FGGY,FLJ27354,FLJ31662,FNBP1L,FNDC7,FOXD3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GLMN,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HENMT1,HFM1,HHLA3,HIAT1,HIPK1,HOOK1,HS2ST1,HSD52,HSP90B3P,IFI44,IFI44L,IGSF3,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,L1TD1,LAMTOR5,LEPR,LEPROT,LHX8,LINC00466,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131060,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAB21L3,MAGI3,MAN1A2,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR3117,MIR320B1,MIR3671,MIR4256,MIR4423,MIR4711,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR942,MOV10,MSH4,MTF2,MYBPHL,MYSM1,NBPF4,NBPF6,NEGR1,NEGR1-IT1,NEXN,NFIA,NGF,NHLH2,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OMA1,OVGP1,PALMD,PDE4B,PGCP1,PGM1,PHTF1,PIGK,PIN1P1,PKN2,PPAP2B,PPM1J,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTPN22,RABGGTB,RAP1A,RAVER2,RBM15,RBMXL1,RHOC,RNPC3,RNU6-6,ROR1,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SERBP1,SGIP1,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SPAG17,SRG7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TACSTD2,TAF13,TCTEX1D1,TGFBR3,TM2D1,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TNNI3K,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,TTLL7,TYW3,UBE2U,UBL4B,UOX,USP1,USP33,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WDR3,WDR47,WDR63,WDR77,WDR78,WLS,WNT2B,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr15 62038104 62038204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62041381 62041481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62075590 62107071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 62098494 62132346 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 62106324 62107324 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 62112731 62157771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS13C chr15 62115554 62116554 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 62116806 62117806 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 62151816 62173162 Gain and loss Pancreatic cancer SNP array 17952125 VPS13C chr15 62151818 62173260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62151818 62173260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62166717 62167717 Loss Renal cell carcinoma References 21215367 VPS13C chr15 62175230 62223486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62175230 62223486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62175254 62217255 Gain and loss Pancreatic cancer SNP array 17952125 VPS13C chr15 62190710 62190821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62190712 62190820 Gain and loss Pancreatic cancer SNP array 17952125 VPS13C chr15 62190712 62190821 Gain and loss Pancreatic cancer SNP array 17952125 VPS13C chr15 62223076 62223176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS13C chr15 62230501 62233000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VPS13C chr15 62230968 62236733 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 VPS13C chr15 62230969 62236733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62230969 62236733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62230991 62235072 Gain and loss Pancreatic cancer SNP array 17952125 VPS13C chr15 62233001 62243000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VPS13C chr15 62235066 62242407 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 VPS13C chr15 62235068 62242407 Gain and loss Pancreatic cancer SNP array 17952125 VPS13C chr15 62235070 62242407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62235070 62242407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS13C chr15 62244769 62435495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2CD4A,VPS13C chr15 62244769 62435495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD4A,VPS13C chr15 62248504 62435273 Gain and loss Pancreatic cancer SNP array 17952125 C2CD4A,VPS13C chr15 62280015 63416605 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1048K arrays 21546498 C2CD4A,C2CD4B,LACTB,MGC15885,MIR190A,TLN2,TPM1,VPS13C chr15 62318072 62318276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS13C chr15 62318276 62318486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS13C chr15 62324768 62324868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS13C chr15 62373600 62373700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62386491 62387491 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 62418601 62422300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 62420232 62420556 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 62421848 62421950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62424026 62424126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62444266 62460682 Gain and loss Pancreatic cancer SNP array 17952125 C2CD4B chr15 62444266 62460755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2CD4B chr15 62444266 62460755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD4B chr15 62451161 62451279 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 62452747 62460665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2CD4B chr15 62452747 62460665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD4B chr15 62467073 62534530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62467073 62534530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62467073 62534553 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62473216 62474216 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 62473233 62474233 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 62473557 62474557 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 62481933 62482033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62485616 62485716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62491216 62492216 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 62498953 62499953 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 62517449 62517549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62524382 62524495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62524384 62524495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62578672 62765320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62578672 62765320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62607919 62608923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62630841 62631266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 62672231 62672644 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62680736 80730419 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1064K arrays 21546498 AAGAB,ACSBG1,ADAMTS7,ADPGK,ADPGK-AS1,AGPHD1,ANKDD1A,ANKRD34C,ANP32A,ANP32A-IT1,APH1B,ARID3B,ARIH1,ARNT2,BBS4,BCL2A1,C15orf27,C15orf37,C15orf39,C15orf44,C15orf59,C15orf60,C15orf61,CA12,CALML4,CCDC33,CD276,CELF6,CHRNA3,CHRNA5,CHRNB4,CIB2,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPLX3,CRABP1,CSK,CSNK1G1,CSPG4,CT62,CTSH,CYP11A1,CYP1A1,CYP1A2,DAPK2,DENND4A,DIS3L,DNAJA4,DNM1P35,DPP8,EDC3,ETFA,FAH,FAM219B,FAM96A,FBXL22,FBXO22,FBXO22-AS1,FEM1B,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HERC1,HEXA,HEXA-AS1,HIGD2B,HMG20A,IDH3A,IGDCC3,IGDCC4,IMP3,IQCH,IQCH-AS1,IREB2,ISL2,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIAA1024,KIF23,LACTB,LARP6,LCTL,LINC00277,LINC00593,LINC00597,LINGO1,LMAN1L,LOC100130855,LOC145837,LOC253044,LOC283688,LOC283731,LOC440288,LOC645752,LOC646938,LOC729739,LOC729911,LOC91450,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MAP2K1,MAP2K5,MEGF11,MGC15885,MIR1272,MIR184,MIR190A,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR5003,MIR548H4,MIR629,MIR630,MIR631,MORF4L1,MPI,MTFMT,MTHFS,MYO9A,NEIL1,NEO1,NOX5,NPTN,NR2E3,NRG4,OAZ2,ODF3L1,PAQR5,PARP16,PARP6,PDCD7,PEAK1,PIAS1,PIF1,PKM,PLEKHO2,PML,PPCDC,PPIB,PSMA4,PSTPIP1,PTPLAD1,PTPN9,RAB11A,RAB8B,RASGRF1,RASL12,RBPMS2,RCN2,RPL4,RPLP1,RPP25,RPS27L,SCAMP2,SCAMP5,SCAPER,SCARNA14,SEMA7A,SENP8,SH2D7,SIN3A,SKOR1,SLC24A1,SLC51B,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX1,SNX22,SNX33,SPESP1,SPG21,ST20,ST20-MTHFS,STOML1,STRA6,TBC1D21,TBC1D2B,THAP10,THSD4,TIPIN,TLE3,TLN2,TMED3,TMEM202,TPM1,TRIP4,TSPAN3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBL7,ULK3,USP3,WDR61,ZFAND6,ZNF609,ZWILCH chr15 62723213 62723288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62732140 62732239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62732140 62732241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62750515 62750621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62750515 62750621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62753397 62760634 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62766828 62770860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62766829 62782507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62782001 62944000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MGC15885,TLN2 chr15 62795058 62795107 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 62804137 62804224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62819147 62854823 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 62819150 62854839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62819150 62854839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62819150 62854839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62836937 62837017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62841639 62841767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62862427 62862501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62894884 62904920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62894884 62904920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 62894889 62900788 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62900842 62904877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 62901991 62902091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 62921167 62947252 Gain and loss Pancreatic cancer SNP array 17952125 MGC15885,TLN2 chr15 62921186 62947252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGC15885,TLN2 chr15 62921186 62947252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGC15885,TLN2 chr15 62944001 62945500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TLN2 chr15 62945501 63013000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TLN2 chr15 62991153 63038094 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TLN2 chr15 62991154 63038092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 62991154 63038092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 62991170 63038085 Gain and loss Pancreatic cancer SNP array 17952125 TLN2 chr15 63023331 63023363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLN2 chr15 63023974 63023974 Copy number Prostate cancer Illumina GA II sequencer 21307934 TLN2 chr15 63042417 63069304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 63042417 63069304 Gain and loss Pancreatic cancer SNP array 17952125 TLN2 chr15 63042417 63069304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 63051639 63051697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLN2 chr15 63073018 63073116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLN2 chr15 63073899 63183826 Gain Autism Illumina 550K(Glessner et al. 2009) 20531469 MIR190A,TLN2 chr15 63081904 63109018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 63081904 63109018 Gain and loss Pancreatic cancer SNP array 17952125 TLN2 chr15 63081904 63109018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 63124761 63132787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 63124761 63132787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 63124858 63132787 Gain and loss Pancreatic cancer SNP array 17952125 TLN2 chr15 63127370 63127470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLN2 chr15 63132727 63147441 Gain or loss Breast cancer - 20668451 TLN2 chr15 63132727 63147441 Gain or loss Cancer - 20668451 TLN2 chr15 63132727 63147441 Gain or loss Lung cancer - 20668451 TLN2 chr15 63132727 63147441 Gain or loss Ovarian cancer - 20668451 TLN2 chr15 63132727 63147441 Gain or loss Pancreas cancer - 20668451 TLN2 chr15 63132727 63147441 Gain or loss Prostate cancer - 20668451 TLN2 chr15 63132730 63147441 Gain and loss Pancreatic cancer SNP array 17952125 TLN2 chr15 63132732 63147441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 63132732 63147441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLN2 chr15 63133501 63182000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TLN2 chr15 63136572 63136672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLN2 chr15 63156324 63157583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63162316 64207179 LOH Normal High-resolution SNP genotyping 21211785 APH1B,CA12,DAPK2,FBXL22,HERC1,LACTB,LOC100130855,RAB8B,RPS27L,TPM1,USP3 chr15 63166168 63184784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 63182001 63401000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TPM1 chr15 63196771 63213227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63196771 63213227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63196771 63213227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63225329 63225409 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 63229837 63264616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63229837 63264616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63229837 63264616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63240019 63240099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63275398 63290847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63275398 63290864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63275398 63290864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63286891 63287073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63287079 63287264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63309252 63309357 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63309252 63309358 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63309252 63309358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63320707 63321707 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 63327484 63380026 Copy number Lung cancer - 20668451 TPM1 chr15 63327484 63380026 Gain or loss Breast cancer - 20668451 TPM1 chr15 63327484 63380026 Gain or loss Cancer - 20668451 TPM1 chr15 63327484 63380026 Gain or loss Lung cancer - 20668451 TPM1 chr15 63327484 63380026 Gain or loss Ovarian cancer - 20668451 TPM1 chr15 63327484 63380026 Gain or loss Pancreas cancer - 20668451 TPM1 chr15 63327484 63380026 Gain or loss Prostate cancer - 20668451 TPM1 chr15 63337487 63366234 Gain and loss Pancreatic cancer SNP array 17952125 TPM1 chr15 63337489 63366071 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 TPM1 chr15 63337491 63366071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPM1 chr15 63337491 63366071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM1 chr15 63340782 63341782 Gain Renal cell carcinoma References 21215367 TPM1 chr15 63364852 63364982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63364852 63364982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63374411 63374574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63374483 63374584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63374605 63374710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63375442 63375557 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63375442 63375557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63375442 63375558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63384068 63384183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63384068 63384183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63384068 63384184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63401001 63503000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LACTB,RAB8B,RPS27L chr15 63405469 63405864 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr15 63406517 63457431 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 LACTB,RPS27L chr15 63406517 63457431 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LACTB,RPS27L chr15 63406520 63457431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LACTB,RPS27L chr15 63406520 63457431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LACTB,RPS27L chr15 63407842 63457379 Gain and loss Pancreatic cancer SNP array 17952125 LACTB,RPS27L chr15 63424629 63425678 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LACTB chr15 63460878 63502463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB8B chr15 63460878 63502463 Gain and loss Pancreatic cancer SNP array 17952125 RAB8B chr15 63460878 63502463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB8B chr15 63467038 63468038 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 63467070 63468070 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 63472000 73072000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 AAGAB,ADPGK,ANKDD1A,ANP32A,ANP32A-IT1,APH1B,ARIH1,BBS4,C15orf44,C15orf61,CA12,CALML4,CELF6,CILP,CLN6,CLPX,CORO2B,CSNK1G1,CT62,DAPK2,DENND4A,DIS3L,DPP8,FAM96A,FBXL22,FEM1B,GLCE,GOLGA6B,GRAMD2,HERC1,HEXA,HEXA-AS1,HIGD2B,IGDCC3,IGDCC4,IQCH,IQCH-AS1,ITGA11,KBTBD13,KIAA0101,KIF23,LARP6,LCTL,LINC00277,LINC00593,LOC100130855,LOC145837,LRRC49,MAP2K1,MAP2K5,MEGF11,MIR1272,MIR4311,MIR4312,MIR4511,MIR548H4,MIR629,MIR630,MTFMT,MYO9A,NOX5,NR2E3,OAZ2,PAQR5,PARP16,PARP6,PDCD7,PIAS1,PIF1,PKM,PLEKHO2,PPIB,PTPLAD1,RAB11A,RAB8B,RASL12,RBPMS2,RPL4,RPLP1,SCARNA14,SENP8,SKOR1,SLC24A1,SLC51B,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNX1,SNX22,SPESP1,SPG21,THAP10,THSD4,TIPIN,TLE3,TMEM202,TRIP4,UACA,UBAP1L,USP3,ZNF609,ZWILCH chr15 63483036 63483136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB8B chr15 63489273 63489373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB8B chr1 5635157 5698920 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr15 63525050 63597088 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 APH1B,RAB8B chr15 63525051 63597088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APH1B,RAB8B chr15 63525051 63597088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APH1B,RAB8B chr15 63526028 63597095 Gain and loss Pancreatic cancer SNP array 17952125 APH1B,RAB8B chr15 63534551 63535551 Gain Renal cell carcinoma References 21215367 RAB8B chr15 63566357 63567357 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 63582132 63582224 Gain and loss Pancreatic cancer SNP array 17952125 APH1B chr15 63582132 63582224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APH1B chr15 63585057 63586057 Loss Renal cell carcinoma References 21215367 APH1B chr15 63602275 63606175 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 63609857 63657736 Gain and loss Pancreatic cancer SNP array 17952125 CA12 chr15 63609878 63657746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CA12 chr15 63609878 63657746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA12 chr15 63609879 63657746 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 CA12 chr15 63613155 63613455 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 63632472 63632578 Gain and loss Pancreatic cancer SNP array 17952125 CA12 chr15 63632472 63632578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA12 chr15 63638766 74646820 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.20 20877625 AAGAB,ADPGK,ADPGK-AS1,ANKDD1A,ANP32A,ANP32A-IT1,ARIH1,BBS4,C15orf44,C15orf59,C15orf60,C15orf61,CA12,CALML4,CCDC33,CD276,CELF6,CILP,CLN6,CLPX,CORO2B,CSNK1G1,CT62,CYP11A1,DAPK2,DENND4A,DIS3L,DPP8,FAM96A,FBXL22,FEM1B,GLCE,GOLGA6A,GOLGA6B,GRAMD2,HCN4,HERC1,HEXA,HEXA-AS1,HIGD2B,IGDCC3,IGDCC4,IQCH,IQCH-AS1,ISLR,ISLR2,ITGA11,KBTBD13,KIAA0101,KIF23,LARP6,LCTL,LINC00277,LINC00593,LOC100130855,LOC145837,LOC283731,LOXL1,LOXL1-AS1,LRRC49,MAP2K1,MAP2K5,MEGF11,MIR1272,MIR4311,MIR4312,MIR4511,MIR548H4,MIR629,MIR630,MTFMT,MYO9A,NEO1,NOX5,NPTN,NR2E3,OAZ2,PAQR5,PARP16,PARP6,PDCD7,PIAS1,PIF1,PKM,PLEKHO2,PML,PPIB,PTPLAD1,RAB11A,RASL12,RBPMS2,RPL4,RPLP1,SCARNA14,SENP8,SKOR1,SLC24A1,SLC51B,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNX1,SNX22,SPESP1,SPG21,STOML1,STRA6,TBC1D21,THAP10,THSD4,TIPIN,TLE3,TMEM202,TRIP4,UACA,UBAP1L,USP3,ZNF609,ZWILCH chr15 63650365 63650464 Gain and loss Pancreatic cancer SNP array 17952125 CA12 chr15 63650365 63650464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA12 chr15 63658170 63690460 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 CA12 chr15 63658173 63690522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CA12 chr15 63658173 63690522 Gain and loss Pancreatic cancer SNP array 17952125 CA12 chr15 63658173 63690522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA12 chr1 56367503 56367603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63677553 63677653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63690757 63733471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63698885 63698985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63701322 63735652 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr15 63703472 63735652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63703472 63735652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63703630 63704277 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 63711961 63712047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63740013 63871516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP3 chr15 63740013 63871516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP3 chr15 63740596 63871640 Gain and loss Pancreatic cancer SNP array 17952125 USP3 chr15 63747936 63749225 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 63752770 63752866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63760026 63760121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63764463 63764563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 63776225 63776328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63776225 63776328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 63836920 63837020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP3 chr15 63850564 63851402 Gain and loss Pancreatic cancer SNP array 17952125 USP3 chr15 63850564 63851402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP3 chr1 56385653 56386149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 63948849 63968846 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 HERC1 chr15 63948850 63968846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HERC1 chr15 63948850 63968846 Gain and loss Pancreatic cancer SNP array 17952125 HERC1 chr15 63948850 63968846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERC1 chr15 63958401 67348600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKDD1A,C15orf44,CILP,CLPX,CSNK1G1,DAPK2,DENND4A,DIS3L,DPP8,FAM96A,HERC1,IGDCC3,IGDCC4,KBTBD13,KIAA0101,LCTL,MAP2K1,MEGF11,MIR1272,MIR4311,MIR4511,MTFMT,OAZ2,PARP16,PDCD7,PIF1,PLEKHO2,PPIB,PTPLAD1,RAB11A,RASL12,RBPMS2,RPL4,SCARNA14,SLC24A1,SLC51B,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNX1,SNX22,SPG21,TIPIN,TRIP4,UBAP1L,ZNF609,ZWILCH chr15 63967839 64137439 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC1 chr15 63974688 64333139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAPK2,HERC1 chr15 63974688 64333139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAPK2,HERC1 chr15 63974693 64333129 Gain and loss Pancreatic cancer SNP array 17952125 DAPK2,HERC1 chr15 63987001 64335000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DAPK2,HERC1 chr15 63998632 63998732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HERC1 chr1 56400000 247249719 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACBD3,ACBD6,ACP6,ACTA1,ACTG1P4,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADSS,AGL,AGT,AHCTF1,AHCYL1,AIDA,AIM2,AK4,AK5,AKNAD1,AKR7A2P1,AKT3,ALDH9A1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANGPTL3,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V1G3,ATP8B2,ATXN7L2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BRDT,BROX,BTBD8,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf141,C1orf145,C1orf146,C1orf162,C1orf168,C1orf173,C1orf180,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf87,C1orf88,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,C8A,C8B,CA14,CACHD1,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CAPZA1,CASQ1,CASQ2,CCBL2,CCDC18,CCDC19,CCSAP,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD53,CD55,CD58,CD5L,CD84,CDC14A,CDC42BPA,CDC42SE1,CDC7,CDC73,CDK18,CELF3,CELSR2,CENPF,CENPL,CEP170,CEP350,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLK2,CNIH3,CNIH4,CNN3,CNST,CNTN2,COG2,COL11A1,COL24A1,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSRP1,CTBS,CTH,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYCSP52,CYMP,CYP2J2,CYR61,DAB1,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DDX59,DEDD,DEGS1,DENND1B,DENND2C,DENND2D,DENND4B,DEPDC1,DESI2,DHX9,DIEXF,DIRAS3,DISC1,DISC2,DISP1,DLEU2L,DNAH14,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNM3,DNM3OS,DNTTIP2,DOCK7,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFCAB7,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ELTD1,EMBP1,ENAH,ENSA,EPHX1,EPHX4,EPRS,EPS8L3,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXTL2,F11R,F13B,F3,F5,FAIM3,FAM102B,FAM129A,FAM163A,FAM177B,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM46C,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FGGY,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC7,FOXD3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,G0S2,GABPB2,GADD45A,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA5,GJA8,GJC2,GLMN,GLRX2,GLT25D2,GLUL,GM140,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG4,GNG5,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GREM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HENMT1,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HMGCS2,HNRNPU,HNRNPU-AS1,HOOK1,HORMAD1,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IFI44,IFI44L,IGFN1,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL12RB2,IL19,IL20,IL23R,IL24,IL6R,ILDR2,ILF2,INADL,INSL5,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JAK1,JMJD4,JTB,JUN,KANK4,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,L1TD1,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LEPR,LEPROT,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00466,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100130000,LOC100130093,LOC100130331,LOC100131060,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339524,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC645166,LOC646268,LOC646626,LOC653513,LOC728463,LOC728875,LOC728989,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC40,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAB21L3,MAEL,MAGI3,MAN1A2,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MCOLN2,MCOLN3,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGC27382,MGST3,MIA3,MIER1,MIR101-1,MIR1182,MIR1231,MIR1262,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR3620,MIR3658,MIR3671,MIR4256,MIR4257,MIR4258,MIR4260,MIR4423,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4711,MIR4735,MIR4742,MIR4753,MIR4794,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR664,MIR760,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MLLT11,MNDA,MOV10,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSH4,MSTO1,MSTO2P,MTF2,MTMR11,MTR,MTX1,MUC1,MYBPH,MYBPHL,MYOC,MYOG,MYSM1,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NFIA,NGF,NHLH1,NHLH2,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NRAS,NSL1,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OMA1,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PALMD,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4B,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIK3C2B,PIN1P1,PIP5K1A,PKLR,PKN2,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPAP2B,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAA2,PRKAB2,PRKACB,PRMT6,PROK1,PROX1,PRPF3,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB4,PSMD4,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTGS2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RALGPS2,RAP1A,RASAL2,RASAL2-AS1,RASSF5,RAVER2,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOC,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPC3,RNPEP,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,ROR1,RORC,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL31P11,RPL5,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RSBN1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SEP15,SERBP1,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC22A15,SLC25A24,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC30A7,SLC35A3,SLC35D1,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A3,SLC50A1,SLC6A17,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA66,SNORA77,SNORD21,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRG7,SRGAP2,SRGAP2B,SRP9,SRSF11,SSR2,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYPL2,SYT11,SYT14,SYT2,SYT6,TACSTD2,TADA1,TAF13,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX15,TBX19,TCHH,TCHHL1,TCTEX1D1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,TGFBR3,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TM2D1,TMCC2,TMCO1,TMED5,TMEM167B,TMEM183A,TMEM183B,TMEM206,TMEM56,TMEM56-RWDD3,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM67,TRMT13,TRMT1L,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN2,TSTD1,TTC13,TTC24,TTF2,TTLL7,TUFT1,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2T,UBE2U,UBL4B,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,UOX,URB2,USF1,USH2A,USP1,USP21,USP33,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR26,WDR3,WDR47,WDR63,WDR64,WDR77,WDR78,WLS,WNT2B,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF326,ZNF644,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 56400000 76700000 Copy number Smith-Lemli-Opitz syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACADM,AK4,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf168,C1orf173,C1orf87,C8A,C8B,CACHD1,CRYZ,CTH,CYP2J2,DAB1,DEPDC1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FGGY,FOXD3,FPGT,FPGT-TNNI3K,GADD45A,GNG12,GNG12-AS1,HHLA3,HOOK1,HSD52,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LOC100131060,LRRC40,LRRC7,LRRIQ3,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4711,MIR4794,MSH4,MYSM1,NEGR1,NEGR1-IT1,NFIA,OMA1,PDE4B,PGM1,PIN1P1,PPAP2B,PRKAA2,PTGER3,RABGGTB,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,TACSTD2,TCTEX1D1,TM2D1,TNNI3K,TYW3,UBE2U,USP1,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr15 64012277 64417295 Amplification Intellectual disability 100k SNP Array 21811512 DAPK2,FAM96A,HERC1,SNX1 chr15 64012277 64417295 Deletion Intellectual disability 100k SNP Array 21811512 DAPK2,FAM96A,HERC1,SNX1 chr15 64012277 64417295 Gain or loss Breast cancer - 20668451 DAPK2,FAM96A,HERC1,SNX1 chr15 64012277 64417295 Gain or loss Cancer - 20668451 DAPK2,FAM96A,HERC1,SNX1 chr15 64012277 64417295 Gain or loss Lung cancer - 20668451 DAPK2,FAM96A,HERC1,SNX1 chr15 64012277 64417295 Gain or loss Ovarian cancer - 20668451 DAPK2,FAM96A,HERC1,SNX1 chr15 64012277 64417295 Gain or loss Pancreas cancer - 20668451 DAPK2,FAM96A,HERC1,SNX1 chr15 64012277 64417295 Gain or loss Prostate cancer - 20668451 DAPK2,FAM96A,HERC1,SNX1 chr15 64053031 64061149 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HERC1 chr15 64092331 64137449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HERC1 chr15 64119139 64119308 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HERC1 chr15 64125836 64126836 Loss Renal cell carcinoma References 21215367 HERC1 chr15 64172457 64182756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 64176003 64190882 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 64178145 64183508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 64178744 64186362 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 64179102 64183783 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 64179398 64191012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 64180434 64183411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 64183608 65281877 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKDD1A,CSNK1G1,DAPK2,FAM96A,KIAA0101,MIR1272,OAZ2,PIF1,PLEKHO2,PPIB,RBPMS2,SNX1,SNX22,SPG21,TRIP4,ZNF609 chr1 56421690 56635518 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr15 64219274 64251569 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAPK2 chr15 64238361 64238396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAPK2 chr15 64265708 64266708 Gain Renal cell carcinoma References 21215367 DAPK2 chr15 64284565 64284665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAPK2 chr15 64332071 64332171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAPK2 chr15 64361643 64784280 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CSNK1G1,FAM96A,KIAA0101,PPIB,SNX1,SNX22,TRIP4 chr15 64372501 64374000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM96A chr15 64372714 64413289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM96A,SNX1 chr15 64372714 64413289 Gain and loss Pancreatic cancer SNP array 17952125 FAM96A,SNX1 chr15 64372714 64413289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM96A,SNX1 chr15 64416230 64436083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX1 chr15 64416230 64436083 Gain and loss Pancreatic cancer SNP array 17952125 SNX1 chr15 64416230 64436083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX1 chr15 64420772 64430751 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 SNX1 chr15 64420867 64421187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNX1 chr15 64426598 64426734 Gain and loss Pancreatic cancer SNP array 17952125 SNX1 chr15 64426599 64426734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX1 chr15 64427668 64427765 Gain and loss Pancreatic cancer SNP array 17952125 SNX1 chr15 64427668 64427765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX1 chr15 64427668 64427767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX1 chr1 56445827 56446716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 56445827 56446716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 64466001 64467000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSNK1G1 chr15 64466264 64570936 Gain or loss Breast cancer - 20668451 CSNK1G1 chr15 64466264 64570936 Gain or loss Cancer - 20668451 CSNK1G1 chr15 64466264 64570936 Gain or loss Lung cancer - 20668451 CSNK1G1 chr15 64466264 64570936 Gain or loss Ovarian cancer - 20668451 CSNK1G1 chr15 64466264 64570936 Gain or loss Pancreas cancer - 20668451 CSNK1G1 chr15 64466264 64570936 Gain or loss Prostate cancer - 20668451 CSNK1G1 chr15 64466265 64570936 Copy number Autism exome sequencing 22495311 CSNK1G1 chr15 64466674 64570935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64466674 64570935 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64466674 64570935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64485226 65416229 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKDD1A,CSNK1G1,KBTBD13,KIAA0101,MIR1272,MTFMT,OAZ2,PDCD7,PIF1,PLEKHO2,RASL12,RBPMS2,SLC51B,SPG21,TRIP4,UBAP1L,ZNF609 chr15 64492060 64492360 Loss Renal cell carcinoma References 21215367 CSNK1G1 chr15 64493591 64493737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CSNK1G1 chr15 64494684 64495684 Loss Renal cell carcinoma References 21215367 CSNK1G1 chr15 64504677 64505677 Loss Renal cell carcinoma References 21215367 CSNK1G1 chr15 64511972 64512272 Loss Renal cell carcinoma References 21215367 CSNK1G1 chr15 64555501 64565500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSNK1G1 chr15 64569720 64577200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64569720 64577200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64573469 64577156 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64576001 64577500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSNK1G1 chr15 64578708 64584238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64578708 64584238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64578708 64603924 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64580642 64580710 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64580642 64580710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64581412 64581483 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64581412 64581483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64582202 64582302 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64582204 64582302 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64582204 64582302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64582635 64582706 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64582635 64582706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64582637 64582706 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64584485 64628866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64584485 64628866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64584509 64628866 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64627590 64644889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64627590 64644889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G1 chr15 64627702 64644889 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G1 chr15 64630000 66673000 Amplification Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ANKDD1A,C15orf44,CILP,CLPX,CSNK1G1,DENND4A,DIS3L,DPP8,IGDCC3,IGDCC4,KBTBD13,KIAA0101,MEGF11,MIR1272,MIR4311,MIR4511,MTFMT,OAZ2,PARP16,PDCD7,PIF1,PLEKHO2,PTPLAD1,RAB11A,RASL12,RBPMS2,SCARNA14,SLC24A1,SLC51B,SPG21,TIPIN,TRIP4,UBAP1L,ZNF609 chr15 64630000 66673000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ANKDD1A,C15orf44,CILP,CLPX,CSNK1G1,DENND4A,DIS3L,DPP8,IGDCC3,IGDCC4,KBTBD13,KIAA0101,MEGF11,MIR1272,MIR4311,MIR4511,MTFMT,OAZ2,PARP16,PDCD7,PIF1,PLEKHO2,PTPLAD1,RAB11A,RASL12,RBPMS2,SCARNA14,SLC24A1,SLC51B,SPG21,TIPIN,TRIP4,UBAP1L,ZNF609 chr15 64640001 65270500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKDD1A,CSNK1G1,KIAA0101,MIR1272,OAZ2,PIF1,PLEKHO2,RBPMS2,SPG21,TRIP4,ZNF609 chr15 64643333 64643365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSNK1G1 chr15 64663101 64666600 Deletion Glioma mate-paired sequence 20126413 KIAA0101 chr15 64664702 64665468 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA0101 chr15 64714716 64715950 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIP4 chr15 64781688 64861377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF609 chr15 64781688 64861377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF609 chr15 64781722 64861379 Gain and loss Pancreatic cancer SNP array 17952125 ZNF609 chr15 64784280 64950441 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ZNF609 chr15 64787319 64788319 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 64814986 64815986 Loss Renal cell carcinoma References 21215367 ZNF609 chr1 5648501 5659000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 64854283 64855283 Gain Renal cell carcinoma References 21215367 ZNF609 chr15 64870826 64871119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF609 chr15 64887939 64888572 Gain and loss Pancreatic cancer SNP array 17952125 ZNF609 chr15 64950592 64996799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OAZ2,ZNF609 chr15 64968146 64968246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF609 chr15 65080206 65080477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 65080206 65080477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 65123616 65123969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 65145249 65274586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKDD1A,PLEKHO2,SPG21 chr15 65145249 65274586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKDD1A,PLEKHO2,SPG21 chr15 65145331 65270901 Gain and loss Pancreatic cancer SNP array 17952125 ANKDD1A,PLEKHO2,SPG21 chr15 65156308 65156408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHO2 chr15 65191742 65192672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 65200000 69400000 Loss Breast cancer aCGH 21045282 AAGAB,ANKDD1A,ANP32A,ANP32A-IT1,C15orf44,C15orf61,CALML4,CILP,CLN6,CLPX,CORO2B,DENND4A,DIS3L,DPP8,FEM1B,IGDCC3,IGDCC4,IQCH,IQCH-AS1,ITGA11,KBTBD13,LCTL,LINC00277,MAP2K1,MAP2K5,MEGF11,MIR4311,MIR4312,MIR4511,MIR548H4,MTFMT,NOX5,PARP16,PDCD7,PIAS1,PTPLAD1,RAB11A,RASL12,RPL4,SCARNA14,SKOR1,SLC24A1,SLC51B,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SPESP1,SPG21,TIPIN,UBAP1L,ZWILCH chr15 65239008 65323050 Deletion Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 ANKDD1A,MTFMT,SPG21 chr15 65273105 65274575 Gain and loss Pancreatic cancer SNP array 17952125 SPG21 chr15 65280423 65334038 Gain and loss Pancreatic cancer SNP array 17952125 MTFMT,SPG21 chr15 65281065 65334063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTFMT,SPG21 chr15 65281407 65282078 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SPG21 chr15 65285591 65286591 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 56528753 56554282 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 65288829 65289829 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 65300000 70400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AAGAB,ANP32A,ANP32A-IT1,C15orf44,C15orf61,CALML4,CILP,CLN6,CLPX,CORO2B,DENND4A,DIS3L,DPP8,FEM1B,GLCE,IGDCC3,IGDCC4,IQCH,IQCH-AS1,ITGA11,KBTBD13,KIF23,LCTL,LINC00277,LINC00593,LOC145837,MAP2K1,MAP2K5,MEGF11,MIR4311,MIR4312,MIR4511,MIR548H4,MIR629,MTFMT,NOX5,PAQR5,PARP16,PDCD7,PIAS1,PTPLAD1,RAB11A,RASL12,RPL4,RPLP1,SCARNA14,SKOR1,SLC24A1,SLC51B,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SPESP1,TIPIN,TLE3,UBAP1L,ZWILCH chr15 65300000 70400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AAGAB,ANP32A,ANP32A-IT1,C15orf44,C15orf61,CALML4,CILP,CLN6,CLPX,CORO2B,DENND4A,DIS3L,DPP8,FEM1B,GLCE,IGDCC3,IGDCC4,IQCH,IQCH-AS1,ITGA11,KBTBD13,KIF23,LCTL,LINC00277,LINC00593,LOC145837,MAP2K1,MAP2K5,MEGF11,MIR4311,MIR4312,MIR4511,MIR548H4,MIR629,MTFMT,NOX5,PAQR5,PARP16,PDCD7,PIAS1,PTPLAD1,RAB11A,RASL12,RPL4,RPLP1,SCARNA14,SKOR1,SLC24A1,SLC51B,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SPESP1,TIPIN,TLE3,UBAP1L,ZWILCH chr15 65300000 70400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AAGAB,ANP32A,ANP32A-IT1,C15orf44,C15orf61,CALML4,CILP,CLN6,CLPX,CORO2B,DENND4A,DIS3L,DPP8,FEM1B,GLCE,IGDCC3,IGDCC4,IQCH,IQCH-AS1,ITGA11,KBTBD13,KIF23,LCTL,LINC00277,LINC00593,LOC145837,MAP2K1,MAP2K5,MEGF11,MIR4311,MIR4312,MIR4511,MIR548H4,MIR629,MTFMT,NOX5,PAQR5,PARP16,PDCD7,PIAS1,PTPLAD1,RAB11A,RASL12,RPL4,RPLP1,SCARNA14,SKOR1,SLC24A1,SLC51B,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SPESP1,TIPIN,TLE3,UBAP1L,ZWILCH chr15 65300000 76100000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 AAGAB,ADPGK,ADPGK-AS1,ANP32A,ANP32A-IT1,ARID3B,ARIH1,BBS4,C15orf39,C15orf44,C15orf59,C15orf60,C15orf61,CALML4,CCDC33,CD276,CELF6,CILP,CLK3,CLN6,CLPX,COMMD4,CORO2B,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DENND4A,DIS3L,DNM1P35,DPP8,EDC3,FAM219B,FEM1B,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IGDCC3,IGDCC4,IMP3,IQCH,IQCH-AS1,ISLR,ISLR2,ITGA11,KBTBD13,KIF23,LARP6,LCTL,LINC00277,LINC00593,LMAN1L,LOC145837,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MAP2K1,MAP2K5,MEGF11,MIR4311,MIR4312,MIR4313,MIR4511,MIR4513,MIR548H4,MIR629,MIR630,MIR631,MPI,MTFMT,MYO9A,NEIL1,NEO1,NOX5,NPTN,NR2E3,ODF3L1,PAQR5,PARP16,PARP6,PDCD7,PIAS1,PKM,PML,PPCDC,PTPLAD1,PTPN9,RAB11A,RASL12,RPL4,RPLP1,RPP25,SCAMP2,SCAMP5,SCARNA14,SEMA7A,SENP8,SIN3A,SKOR1,SLC24A1,SLC51B,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNUPN,SNX33,SPESP1,STOML1,STRA6,TBC1D21,THAP10,THSD4,TIPIN,TLE3,TMEM202,UACA,UBAP1L,UBL7,ULK3,ZWILCH chr15 65321520 65321853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MTFMT chr15 65334221 65581193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CILP,CLPX,KBTBD13,PARP16,PDCD7,RASL12,SLC51B,UBAP1L chr15 65334221 65581193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CILP,CLPX,KBTBD13,PARP16,PDCD7,RASL12,SLC51B,UBAP1L chr15 65334221 65581195 Gain and loss Pancreatic cancer SNP array 17952125 CILP,CLPX,KBTBD13,PARP16,PDCD7,RASL12,SLC51B,UBAP1L chr15 65334247 65581193 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CILP,CLPX,KBTBD13,PARP16,PDCD7,RASL12,SLC51B,UBAP1L chr1 56535816 56536019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 65412037 65412137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDCD7 chr15 65429521 65430521 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 65432900 65433900 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 65437469 65438469 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 65444093 65445093 Gain Renal cell carcinoma References 21215367 CLPX chr15 65482720 65482818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 65565120 65568911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PARP16 chr15 65582732 65582832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 65600632 65605946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 65600632 65605946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 65600701 65605937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 65622075 65886505 Gain and loss Pancreatic cancer SNP array 17952125 C15orf44,DPP8,IGDCC3,IGDCC4,PTPLAD1 chr15 65622075 65886506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf44,DPP8,IGDCC3,IGDCC4,PTPLAD1 chr15 65622075 65886506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf44,DPP8,IGDCC3,IGDCC4,PTPLAD1 chr15 65655376 65656391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IGDCC3 chr15 65696667 65696765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGDCC4 chr15 65750113 65751113 Gain Renal cell carcinoma References 21215367 DPP8 chr15 65750170 65751170 Gain Renal cell carcinoma References 21215367 DPP8 chr15 65750188 65751188 Loss Renal cell carcinoma References 21215367 DPP8 chr15 65750280 65751280 Loss Renal cell carcinoma References 21215367 DPP8 chr15 65757034 65802127 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP8 chr15 65791163 65792163 Loss Renal cell carcinoma References 21215367 DPP8 chr15 65794835 65795835 Loss Renal cell carcinoma References 21215367 DPP8 chr15 65808831 65808931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP8 chr15 65850513 65850568 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPLAD1 chr15 65877001 65922000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf44,SLC24A1 chr15 65899096 65913228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf44 chr15 65899096 65913228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf44 chr1 5659001 5687500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 65905320 65913228 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 65907191 65941777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC24A1 chr15 65910709 65910809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 65919331 65919437 Gain and loss Pancreatic cancer SNP array 17952125 SLC24A1 chr15 65919331 65919437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC24A1 chr1 56601601 56609300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 56603695 56607549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 66049391 66053056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DENND4A chr15 66049394 66051951 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DENND4A chr15 66051537 66052537 Gain Renal cell carcinoma References 21215367 DENND4A chr15 66051604 66052604 Gain Renal cell carcinoma References 21215367 DENND4A chr15 66064919 66065919 Loss Renal cell carcinoma References 21215367 DENND4A chr15 66065184 66066184 Loss Renal cell carcinoma References 21215367 DENND4A chr15 66085354 66110257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 56613262 56613346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 66133622 66267456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEGF11,RAB11A chr15 66133622 66267456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF11,RAB11A chr15 66133625 66267458 Gain or loss Breast cancer - 20668451 MEGF11,RAB11A chr15 66133625 66267458 Gain or loss Cancer - 20668451 MEGF11,RAB11A chr15 66133625 66267458 Gain or loss Lung cancer - 20668451 MEGF11,RAB11A chr15 66133625 66267458 Gain or loss Ovarian cancer - 20668451 MEGF11,RAB11A chr15 66133625 66267458 Gain or loss Pancreas cancer - 20668451 MEGF11,RAB11A chr15 66133625 66267458 Gain or loss Prostate cancer - 20668451 MEGF11,RAB11A chr15 66133626 66267456 Gain and loss Pancreatic cancer SNP array 17952125 MEGF11,RAB11A chr15 66187872 66187972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF11 chr15 66192717 66217802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEGF11 chr15 66205377 66206220 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MEGF11 chr15 66211101 66218000 Deletion Glioma mate-paired sequence 20126413 MEGF11 chr15 66213057 66215981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MEGF11 chr15 66252362 66283615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEGF11 chr15 66259476 66259576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF11 chr15 66270098 66285502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr15 66270098 66285502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr15 66270480 66285502 Gain and loss Pancreatic cancer SNP array 17952125 MEGF11 chr15 66274501 66291500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEGF11 chr15 66286386 66309079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr15 66286386 66309079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr15 66286386 66309102 Gain and loss Pancreatic cancer SNP array 17952125 MEGF11 chr15 66291501 66811500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L,MAP2K1,MEGF11,MIR4311,RPL4,SCARNA14,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,TIPIN,ZWILCH chr15 66325126 66601717 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DIS3L,MEGF11,MIR4311 chr15 66333575 67842692 LOH Normal High-resolution SNP genotyping 21211785 AAGAB,C15orf61,DIS3L,IQCH,IQCH-AS1,LCTL,MAP2K1,MAP2K5,MEGF11,RPL4,SCARNA14,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,TIPIN,ZWILCH chr15 66334025 66334296 Gain and loss Pancreatic cancer SNP array 17952125 MEGF11 chr15 66334025 66334296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr1 56635226 56661214 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 66357195 66370691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr15 66357195 66370691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr15 66357810 66375247 Gain and loss Pancreatic cancer SNP array 17952125 MEGF11 chr15 66378913 66416071 Gain Normal 244K array 17666407 MEGF11 chr15 66381104 66511550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr15 66381104 66511550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF11 chr15 66381469 66511531 Gain and loss Pancreatic cancer SNP array 17952125 MEGF11 chr15 66382611 66382693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF11 chr15 66418974 67063042 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DIS3L,LCTL,MAP2K1,MEGF11,RPL4,SCARNA14,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,TIPIN,ZWILCH chr15 66419296 66419394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF11 chr15 66472020 66477654 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MEGF11 chr15 66476135 66476207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF11 chr15 66500393 66500610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MEGF11 chr15 66513802 66513954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF11 chr15 66550240 66583411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 66601133 67063042 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DIS3L,LCTL,MAP2K1,RPL4,SCARNA14,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,TIPIN,ZWILCH chr1 56660291 56660607 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 66658362 66807199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP2K1,RPL4,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,ZWILCH chr15 66658362 66807199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2K1,RPL4,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,ZWILCH chr15 66658646 66807193 Gain and loss Pancreatic cancer SNP array 17952125 MAP2K1,RPL4,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,ZWILCH chr15 66661292 67643932 LOH Normal High-resolution SNP genotyping 21211785 AAGAB,IQCH,LCTL,MAP2K1,RPL4,SMAD3,SMAD6,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,ZWILCH chr1 56671960 56757154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 66789809 66802029 Gain Normal 244K array 17666407 RPL4,SNAPC5,SNORD16,SNORD18A,SNORD18B,SNORD18C,ZWILCH chr15 66797683 67021915 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LCTL,SMAD6,ZWILCH chr15 66811501 66901000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LCTL,ZWILCH chr15 66836622 66836950 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZWILCH chr15 66842004 67835962 LOH Normal High-resolution SNP genotyping 21211785 AAGAB,C15orf61,IQCH,IQCH-AS1,LCTL,MAP2K5,SMAD3,SMAD6 chr15 66845404 66900277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCTL chr15 66859260 66900277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 66859267 66871641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 66859267 66871641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 66860059 67835465 LOH Normal High-resolution SNP genotyping 21211785 AAGAB,C15orf61,IQCH,IQCH-AS1,MAP2K5,SMAD3,SMAD6 chr15 66881730 71972563 Deletion Autism Array CGH 22102821 AAGAB,ANP32A,ANP32A-IT1,C15orf61,CALML4,CLN6,CORO2B,CT62,FEM1B,GLCE,IQCH,IQCH-AS1,ITGA11,KIF23,LARP6,LINC00277,LINC00593,LOC145837,LRRC49,MAP2K5,MIR4312,MIR548H4,MIR629,NOX5,PAQR5,PIAS1,RPLP1,SKOR1,SMAD3,SMAD6,SPESP1,THAP10,THSD4,TLE3,UACA chr15 66897657 66897745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 66913199 66914142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 66955306 66956306 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 66963266 66963304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 67009910 67026203 Gain and loss Pancreatic cancer SNP array 17952125 SMAD6 chr15 67009917 67136127 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SMAD6 chr15 67009918 67136127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMAD6 chr15 67009918 67136127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAD6 chr15 67009919 67026202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMAD6 chr15 67009919 67026202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAD6 chr15 67013899 67023366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMAD6 chr15 67014720 67015720 Loss Renal cell carcinoma References 21215367 SMAD6 chr15 67036885 68382017 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AAGAB,C15orf61,IQCH,IQCH-AS1,MAP2K5,PIAS1,SKOR1,SMAD3,SMAD6 chr15 67076427 67076510 Gain Normal 244K array 17666407 NOT_FOUND chr15 67093975 67094246 Gain Normal 244K array 17666407 NOT_FOUND chr15 67094125 67136516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 67094663 67097566 Gain Normal 244K array 17666407 NOT_FOUND chr15 67145128 67145196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 56715198 56715298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 67160193 67160676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 67160256 67175201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 67232208 67232303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 67240027 67351592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 67240027 67351592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 67300000 75200000 Loss Prostate cancer Array CGH 16573809 AAGAB,ADPGK,ADPGK-AS1,ANP32A,ANP32A-IT1,ARID3B,ARIH1,BBS4,C15orf59,C15orf60,C15orf61,CALML4,CCDC33,CD276,CELF6,CLK3,CLN6,CORO2B,CPLX3,CSK,CT62,CYP11A1,CYP1A1,CYP1A2,EDC3,FAM219B,FEM1B,GLCE,GOLGA6A,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IQCH,IQCH-AS1,ISLR,ISLR2,ITGA11,KIF23,LARP6,LINC00277,LINC00593,LMAN1L,LOC145837,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAP2K5,MIR4312,MIR4513,MIR548H4,MIR629,MIR630,MPI,MYO9A,NEO1,NOX5,NPTN,NR2E3,PAQR5,PARP6,PIAS1,PKM,PML,RPLP1,SCAMP2,SEMA7A,SENP8,SKOR1,SMAD3,SPESP1,STOML1,STRA6,TBC1D21,THAP10,THSD4,TLE3,TMEM202,UACA,UBL7,ULK3 chr1 56730359 56730432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 67314733 67314833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 67319623 67319681 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 67322329 67322399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 67323134 67323207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 67329918 67330186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 67329918 67330186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 56733023 56817845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 56733023 56817845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 67335223 67351592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 67348061 67349061 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 67348601 68436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AAGAB,C15orf61,IQCH,IQCH-AS1,MAP2K5,PIAS1,SKOR1,SMAD3 chr15 67353341 67354341 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 67357001 68070000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AAGAB,C15orf61,IQCH,IQCH-AS1,MAP2K5,SMAD3 chr15 67357616 67357690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 56736382 56736482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 67373444 67373517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMAD3 chr15 67378340 67487040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMAD3 chr15 67378340 67487040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAD3 chr15 67396360 67397360 Loss Renal cell carcinoma References 21215367 SMAD3 chr15 67401465 67402469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMAD3 chr15 67404686 67404813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAD3 chr15 67421806 67579253 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AAGAB,IQCH,SMAD3 chr15 67434071 67434171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMAD3 chr15 67439358 67486098 Gain and loss Pancreatic cancer SNP array 17952125 SMAD3 chr15 67440000 68370000 Gain Acute lymphoblastic leukemia - 21339820 AAGAB,C15orf61,IQCH,IQCH-AS1,MAP2K5,PIAS1,SKOR1,SMAD3 chr15 67446978 67447066 Gain and loss Pancreatic cancer SNP array 17952125 SMAD3 chr15 67446978 67447066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAD3 chr15 67485834 67485943 Gain and loss Pancreatic cancer SNP array 17952125 SMAD3 chr15 67485834 67485945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAD3 chr15 67493697 67527810 Gain and loss Pancreatic cancer SNP array 17952125 AAGAB chr15 67493741 67527818 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 AAGAB chr15 67493742 67532214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AAGAB chr15 67493742 67532214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAGAB chr15 67500000 89100000 Copy number Autism Affymetrix 10K SNP arrays 17322880 AAGAB,ACSBG1,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANP32A,ANP32A-IT1,AP3B2,ARID3B,ARIH1,ARNT2,BBS4,BCL2A1,BNC1,BTBD1,C15orf26,C15orf27,C15orf37,C15orf39,C15orf40,C15orf59,C15orf60,C15orf61,CALML4,CCDC33,CD276,CELF6,CHRNA3,CHRNA5,CHRNB4,CIB2,CLK3,CLN6,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CSK,CSPG4,CT62,CTSH,CYP11A1,CYP1A1,CYP1A2,DET1,DNAJA4,DNM1P35,DNM1P41,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM219B,FBXO22,FBXO22-AS1,FEM1B,FSD2,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,HCN4,HDGFRP3,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,IDH3A,IL16,IMP3,IQCH,IQCH-AS1,IREB2,ISL2,ISLR,ISLR2,ITGA11,KIAA1024,KIAA1199,KIF23,KLHL25,LARP6,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LMAN1L,LOC100505679,LOC100506874,LOC145837,LOC253044,LOC283688,LOC283692,LOC283693,LOC283731,LOC338963,LOC388152,LOC390660,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MAP2K5,MESDC1,MESDC2,MEX3B,MIR1276,MIR184,MIR4312,MIR4313,MIR4513,MIR4514,MIR4515,MIR5003,MIR548H4,MIR549,MIR629,MIR630,MIR631,MORF4L1,MPI,MRPL46,MRPS11,MTHFS,MYO9A,NEIL1,NEO1,NMB,NOX5,NPTN,NR2E3,NRG4,NTRK3,NTRK3-AS1,ODF3L1,PAQR5,PARP6,PDE8A,PEAK1,PIAS1,PKM,PML,PPCDC,PSMA4,PSTPIP1,PTPN9,RASGRF1,RCN2,RPLP1,RPP25,RPS17,RPS17L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SKOR1,SLC28A1,SNUPN,SNX33,SPESP1,ST20,ST20-MTHFS,STARD5,STOML1,STRA6,TBC1D21,TBC1D2B,THAP10,THSD4,TLE3,TM6SF1,TMC3,TMED3,TMEM202,TSPAN3,TYRO3P,UACA,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,WDR61,WDR73,WHAMM,ZFAND6,ZNF592,ZSCAN2 chr15 67522139 67522203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AAGAB chr15 67523060 67549506 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AAGAB,IQCH chr15 67532212 67534938 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 AAGAB chr15 67532213 67534938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AAGAB chr15 67532213 67534938 Gain and loss Pancreatic cancer SNP array 17952125 AAGAB chr15 67532213 67534938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAGAB chr15 67537335 67537542 Gain and loss Pancreatic cancer SNP array 17952125 AAGAB chr15 67537335 67537542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAGAB chr15 67540042 68049656 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 AAGAB,C15orf61,IQCH,IQCH-AS1,MAP2K5 chr15 67553921 68800098 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C15orf61,CALML4,CLN6,FEM1B,IQCH,IQCH-AS1,ITGA11,MAP2K5,PIAS1,SKOR1 chr15 67576700 67608388 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IQCH chr15 67599658 67599758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCH chr15 67644339 67660958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IQCH chr15 67644925 67645123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCH chr15 67648593 68548138 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C15orf61,CALML4,CLN6,IQCH,IQCH-AS1,MAP2K5,PIAS1,SKOR1 chr15 67662482 67696149 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IQCH,IQCH-AS1 chr1 56776712 56777171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 67774081 67774181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCH,IQCH-AS1 chr15 67797233 67828911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C15orf61,IQCH-AS1 chr15 67820047 67820147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 56785731 56785831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 67864808 67864897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2K5 chr15 67868222 67869222 Loss Renal cell carcinoma References 21215367 MAP2K5 chr15 67899996 67900096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2K5 chr15 67905861 67905961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2K5 chr15 67907765 67908065 Gain Renal cell carcinoma References 21215367 MAP2K5 chr15 67908720 67909720 Loss Renal cell carcinoma References 21215367 MAP2K5 chr15 67910382 67911382 Loss Renal cell carcinoma References 21215367 MAP2K5 chr15 67912359 67913359 Loss Renal cell carcinoma References 21215367 MAP2K5 chr15 67912501 67913501 Loss Renal cell carcinoma References 21215367 MAP2K5 chr15 67920969 67921502 Gain and loss Pancreatic cancer SNP array 17952125 MAP2K5 chr15 67932707 67932802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2K5 chr15 67943079 67944079 Loss Renal cell carcinoma References 21215367 MAP2K5 chr15 67981299 84460990 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACSBG1,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AGPHD1,AGSK1,ANKRD34C,ANP32A,ANP32A-IT1,AP3B2,ARID3B,ARIH1,ARNT2,BBS4,BCL2A1,BNC1,BTBD1,C15orf26,C15orf27,C15orf37,C15orf39,C15orf40,C15orf59,C15orf60,CALML4,CCDC33,CD276,CELF6,CHRNA3,CHRNA5,CHRNB4,CIB2,CLK3,CLN6,COMMD4,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CSK,CSPG4,CT62,CTSH,CYP11A1,CYP1A1,CYP1A2,DNAJA4,DNM1P35,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM219B,FBXO22,FBXO22-AS1,FEM1B,FSD2,GLCE,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L9,GRAMD2,HCN4,HDGFRP3,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,IDH3A,IL16,IMP3,IREB2,ISL2,ISLR,ISLR2,ITGA11,KIAA1024,KIAA1199,KIF23,LARP6,LINC00277,LINC00593,LINC00597,LINGO1,LMAN1L,LOC145837,LOC253044,LOC283688,LOC283692,LOC283693,LOC283731,LOC338963,LOC390660,LOC440288,LOC440297,LOC645752,LOC646938,LOC727849,LOC729739,LOC729911,LOC91450,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MAP2K5,MESDC1,MESDC2,MEX3B,MIR184,MIR4312,MIR4313,MIR4513,MIR4514,MIR4515,MIR5003,MIR548H4,MIR549,MIR629,MIR630,MIR631,MORF4L1,MPI,MTHFS,MYO9A,NEIL1,NEO1,NOX5,NPTN,NR2E3,NRG4,ODF3L1,PAQR5,PARP6,PEAK1,PIAS1,PKM,PML,PPCDC,PSMA4,PSTPIP1,PTPN9,RASGRF1,RCN2,RPLP1,RPP25,RPS17,RPS17L,SCAMP2,SCAMP5,SCAPER,SCARNA15,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SKOR1,SNUPN,SNX33,SPESP1,ST20,ST20-MTHFS,STARD5,STOML1,STRA6,TBC1D21,TBC1D2B,THAP10,THSD4,TLE3,TM6SF1,TMC3,TMED3,TMEM202,TSPAN3,TYRO3P,UACA,UBE2Q2,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,WDR61,WHAMM,ZFAND6 chr15 67983110 68027376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP2K5 chr15 68025422 68046403 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MAP2K5 chr15 68025422 68050937 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MAP2K5 chr15 68032607 68050937 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MAP2K5 chr15 68055433 68055533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2K5 chr15 68070001 68132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAP2K5,SKOR1 chr15 68070801 68071801 Loss Renal cell carcinoma References 21215367 MAP2K5 chr15 68071729 68072729 Gain Renal cell carcinoma References 21215367 MAP2K5 chr15 68085370 68085482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAP2K5 chr15 68127596 68177310 Copy number Lung cancer - 20668451 NOT_FOUND chr15 68127596 68177310 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 68127596 68177310 Gain or loss Cancer - 20668451 NOT_FOUND chr15 68127596 68177310 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 68127596 68177310 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 68127596 68177310 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 68127596 68177310 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 68127597 68177310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 68127668 68177293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 68132501 68140000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 68140001 68687000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CALML4,CLN6,FEM1B,ITGA11,PIAS1 chr15 68158765 68158861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 68227987 68228087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 56823041 56886142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 56823873 56824503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 68272629 68272730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 68272629 68272737 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 68272629 68272737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 68306768 68306868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 68340326 68341326 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 68344963 68345063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 68356303 68356370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIAS1 chr15 68411917 71205614 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANP32A,ANP32A-IT1,CALML4,CLN6,CORO2B,FEM1B,GLCE,ITGA11,KIF23,LARP6,LINC00277,LINC00593,LOC145837,LRRC49,MIR4312,MIR548H4,MIR629,NOX5,PAQR5,PIAS1,RPLP1,SPESP1,THAP10,TLE3,UACA chr15 68419057 68420057 Gain Renal cell carcinoma References 21215367 PIAS1 chr15 68436501 68664200 Copy number Normal ReadDepth: A Parallel R Package 21305028 CALML4,CLN6,FEM1B,ITGA11,PIAS1 chr15 68475173 69318864 LOH Normal High-resolution SNP genotyping 21211785 ANP32A,ANP32A-IT1,CALML4,CLN6,CORO2B,FEM1B,ITGA11,MIR4312,MIR548H4,NOX5,PIAS1,SPESP1 chr15 68493728 68494728 Loss Renal cell carcinoma References 21215367 CALML4 chr15 68494420 68495420 Gain Renal cell carcinoma References 21215367 CALML4 chr15 68515437 68515527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLN6 chr15 68519337 69373643 LOH Normal High-resolution SNP genotyping 21211785 ANP32A,ANP32A-IT1,CLN6,CORO2B,FEM1B,ITGA11,LINC00277,MIR4312,MIR548H4,NOX5,SPESP1 chr15 68526661 68527661 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 68541088 68586197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FEM1B chr15 68558965 68559114 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 68562262 68662843 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 FEM1B,ITGA11 chr1 56857670 56857810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 68615994 68928381 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CORO2B,ITGA11 chr15 68619716 69211685 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ANP32A,ANP32A-IT1,CORO2B,ITGA11,MIR4312,MIR548H4 chr15 68621050 68656398 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITGA11 chr15 68627632 68627726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA11 chr15 68656997 68657038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA11 chr15 68664201 68740100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITGA11 chr15 68681625 68681711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA11 chr15 68721424 68721524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA11 chr15 68724650 68757094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 68730501 69227064 Copy number loss Normal High-resolution SNP genotyping 21211785 ANP32A,ANP32A-IT1,CORO2B,MIR4312,MIR548H4,NOX5,SPESP1 chr15 68732741 68732841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 68733949 68842904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 68733949 68842904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 68736327 68842849 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 68736849 69227064 Copy number loss Normal High-resolution SNP genotyping 21211785 ANP32A,ANP32A-IT1,CORO2B,MIR4312,MIR548H4,NOX5,SPESP1 chr15 68740101 69094300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANP32A,CORO2B,MIR4312 chr1 5687501 5813000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 68750425 68751523 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr15 68759110 68759183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 56876553 57048241 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PPAP2B chr1 56878910 56879055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 68792505 68815838 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 68806416 68833994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 56880657 56880757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 68807001 68816300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 68807794 68807894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 68808894 68814562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 68814821 68826133 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 68820651 68835300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 68833688 68833788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 56883577 56953596 Copy number Lung cancer - 20668451 NOT_FOUND chr1 56883577 56953596 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 56883577 56953596 Gain or loss Cancer - 20668451 NOT_FOUND chr1 56883577 56953596 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 56883577 56953596 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 56883577 56953596 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 56883577 56953596 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 56883578 56953595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 56883578 56953595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 68870406 68870597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 68876028 68876492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO2B chr15 68876037 68876492 Gain and loss Pancreatic cancer SNP array 17952125 CORO2B chr15 68885820 68885920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CORO2B chr15 68910931 68933552 Gain and loss Pancreatic cancer SNP array 17952125 CORO2B chr15 68910945 68933552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CORO2B chr15 68910945 68933552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO2B chr1 56892624 56892724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 68945904 73677667 Loss Wilms tumour 250K Genotyping Arrays 21544195 ADPGK,ADPGK-AS1,ANP32A,ANP32A-IT1,ARIH1,BBS4,CELF6,CORO2B,CT62,GLCE,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,KIF23,LARP6,LINC00277,LINC00593,LOC145837,LRRC49,MIR4312,MIR548H4,MIR629,MIR630,MYO9A,NEO1,NOX5,NR2E3,PAQR5,PARP6,PKM,RPLP1,SENP8,SPESP1,THAP10,THSD4,TLE3,TMEM202,UACA chr15 68960736 68971807 Gain and loss Pancreatic cancer SNP array 17952125 CORO2B chr15 68960736 68971814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CORO2B chr15 68960736 68971814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO2B chr1 56896499 56997065 Gain and loss Pancreatic cancer SNP array 17952125 PPAP2B chr15 68972040 69129490 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ANP32A,ANP32A-IT1,CORO2B,MIR4312,MIR548H4 chr15 68972041 69129472 Gain and loss Pancreatic cancer SNP array 17952125 ANP32A,ANP32A-IT1,CORO2B,MIR4312,MIR548H4 chr15 68972041 69129488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANP32A,ANP32A-IT1,CORO2B,MIR4312,MIR548H4 chr15 68972041 69129488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANP32A,ANP32A-IT1,CORO2B,MIR4312,MIR548H4 chr1 56905118 56905218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 69082246 69796987 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANP32A,ANP32A-IT1,GLCE,KIF23,LINC00277,MIR4312,MIR548H4,NOX5,PAQR5,RPLP1,SPESP1 chr15 69082246 69908454 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANP32A,ANP32A-IT1,GLCE,KIF23,LINC00277,LOC145837,MIR4312,MIR548H4,NOX5,PAQR5,RPLP1,SPESP1 chr15 69094301 69220800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANP32A,ANP32A-IT1,MIR548H4 chr15 69097821 69097899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANP32A,ANP32A-IT1 chr15 69100699 69100777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANP32A chr15 69104965 69105065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANP32A chr15 69142491 69143405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548H4 chr15 69163656 69163756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548H4 chr15 69176345 69862776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLCE,KIF23,LINC00277,LOC145837,MIR548H4,NOX5,PAQR5,RPLP1,SPESP1 chr15 69176345 69862776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLCE,KIF23,LINC00277,LOC145837,MIR548H4,NOX5,PAQR5,RPLP1,SPESP1 chr15 69205084 69238505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548H4,NOX5,SPESP1 chr15 69220801 69878600 Copy number Normal ReadDepth: A Parallel R Package 21305028 GLCE,KIF23,LINC00277,LOC145837,MIR548H4,NOX5,PAQR5,RPLP1,SPESP1 chr15 69244268 69244809 Gain and loss Pancreatic cancer SNP array 17952125 MIR548H4,NOX5 chr1 56928942 56929042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 56930881 56938733 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 69334822 69369539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548H4,NOX5 chr15 69400547 69400647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548H4 chr15 69404788 69423876 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MIR548H4 chr15 69408385 69421130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548H4 chr15 69420551 69421108 Gain and loss Pancreatic cancer SNP array 17952125 MIR548H4 chr15 69426955 69427055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548H4 chr15 69438585 69460828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLCE,MIR548H4 chr15 69441614 69441714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548H4 chr15 69453064 69453161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLCE,MIR548H4 chr15 69472915 69508151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLCE,MIR548H4 chr15 69486027 69505371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLCE,MIR548H4 chr15 69491047 69502587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLCE chr15 69493501 69502700 Deletion Glioma mate-paired sequence 20126413 GLCE chr15 69495065 69501715 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GLCE chr15 69495663 69500740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GLCE chr15 69528291 70794474 LOH Normal High-resolution SNP genotyping 21211785 GLCE,KIF23,LINC00593,LOC145837,MIR629,PAQR5,RPLP1,TLE3 chr15 69548043 69548112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLCE chr1 56957066 57057632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPAP2B chr1 56957066 57057632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPAP2B chr15 69626629 69860327 Gain and loss Pancreatic cancer SNP array 17952125 KIF23,LOC145837,PAQR5,RPLP1 chr15 69633490 69633753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAQR5 chr15 69657718 69658718 Gain Renal cell carcinoma References 21215367 PAQR5 chr15 69658758 69658852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAQR5 chr15 69668624 69670019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAQR5 chr15 69672530 69672867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAQR5 chr15 69712676 69712951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF23 chr15 69716593 71213839 LOH Normal High-resolution SNP genotyping 21211785 KIF23,LARP6,LINC00593,LOC145837,LRRC49,MIR629,RPLP1,THAP10,TLE3,UACA chr15 69737570 69737670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF23 chr15 69738737 69738837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF23 chr15 69744498 69745498 Gain Renal cell carcinoma References 21215367 RPLP1 chr15 69760634 69761634 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 69778600 69778831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 69781358 70887779 LOH Normal High-resolution SNP genotyping 21211785 LINC00593,LOC145837,MIR629,TLE3 chr15 69781358 71030274 LOH Normal High-resolution SNP genotyping 21211785 LINC00593,LOC145837,MIR629,TLE3,UACA chr15 69804179 69804539 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 69830761 69831761 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 56983283 56983383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAP2B chr15 69834022 69835022 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 69838976 72897937 Deletion Autism Affymetrix NspI 250K arraysNspI 250K arrays 20678247 ARIH1,CELF6,CT62,GRAMD2,HEXA,HEXA-AS1,LARP6,LINC00593,LOC145837,LRRC49,MIR629,MIR630,MYO9A,NR2E3,PARP6,PKM,SENP8,THAP10,THSD4,TLE3,TMEM202,UACA chr15 69842199 70876682 LOH Normal High-resolution SNP genotyping 21211785 LINC00593,LOC145837,MIR629,TLE3 chr15 69845172 69846172 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 69875724 71226640 LOH Normal High-resolution SNP genotyping 21211785 LARP6,LINC00593,LRRC49,MIR629,THAP10,TLE3,UACA chr15 69878601 71750800 Copy number Normal ReadDepth: A Parallel R Package 21305028 CT62,LARP6,LINC00593,LRRC49,MIR629,THAP10,THSD4,TLE3,UACA chr15 69879160 69879429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 69879358 69879658 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 69886501 69893500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 69889948 69897613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 69889948 69897613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 69889948 69897649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 69892160 69893160 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 69892200 69893200 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 69900499 69901499 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 69905423 70197476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00593 chr15 69905423 70197476 Gain and loss Pancreatic cancer SNP array 17952125 LINC00593 chr15 69905423 70197476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00593 chr15 69924650 69924757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 69937965 69938062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 69937965 69938081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 69937965 69938088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 56995187 57014121 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PPAP2B chr15 69954130 69954189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 69956711 69956778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 69972812 69972912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 69981316 70230844 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LINC00593 chr15 70037299 70037393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70120584 70121105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70124578 70124667 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70124578 70124752 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70124578 70124762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70124962 70125058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70124962 70125058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70130646 70130724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00593 chr15 70130819 70130874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00593 chr1 57015196 57015534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPAP2B chr1 57015674 57041025 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PPAP2B chr15 70171201 70177200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 70173020 70175212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 57018895 57018995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAP2B chr15 70190689 70190789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70197807 70220358 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 70197807 70220358 Gain or loss Cancer - 20668451 NOT_FOUND chr15 70197807 70220358 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 70197807 70220358 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 70197807 70220358 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 70197807 70220358 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 70197808 70220357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70197808 70220357 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70197808 70220357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 57021410 57021510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAP2B chr15 70216626 70216693 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 70239202 70277180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70239202 70277180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70239202 70277180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70240001 70283000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 70278423 70310738 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 70278423 70310738 Gain or loss Cancer - 20668451 NOT_FOUND chr15 70278423 70310738 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 70278423 70310738 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 70278423 70310738 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 70278423 70310738 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 70278424 70310738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70278424 70310738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70278424 70310738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70288803 70288854 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 70299233 70299325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70301525 70301606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70307520 70307577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70320575 70350682 Gain or loss Breast cancer - 20668451 TLE3 chr15 70320575 70350682 Gain or loss Cancer - 20668451 TLE3 chr15 70320575 70350682 Gain or loss Lung cancer - 20668451 TLE3 chr15 70320575 70350682 Gain or loss Ovarian cancer - 20668451 TLE3 chr15 70320575 70350682 Gain or loss Pancreas cancer - 20668451 TLE3 chr15 70320575 70350682 Gain or loss Prostate cancer - 20668451 TLE3 chr15 70320577 70350446 Gain and loss Pancreatic cancer SNP array 17952125 TLE3 chr15 70320577 70350682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLE3 chr15 70320577 70350682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLE3 chr1 57032498 57095915 Gain and loss Pancreatic cancer SNP array 17952125 PPAP2B chr15 70336939 70372230 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR629,TLE3 chr15 70354296 70354386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLE3 chr15 70355256 70355447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TLE3 chr15 70358982 70362631 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TLE3 chr15 70364122 70400583 Gain and loss Pancreatic cancer SNP array 17952125 MIR629,TLE3 chr15 70364123 70399579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR629,TLE3 chr15 70364123 70399579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR629,TLE3 chr15 70400000 73100000 Copy number Matthew-Wood syndrome high-resolution SNP arrays 21085971 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,CT62,GOLGA6B,GRAMD2,HEXA,HEXA-AS1,HIGD2B,LARP6,LRRC49,MIR630,MYO9A,NR2E3,PARP6,PKM,SENP8,THAP10,THSD4,TMEM202,UACA chr15 70400000 73100000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,CT62,GOLGA6B,GRAMD2,HEXA,HEXA-AS1,HIGD2B,LARP6,LRRC49,MIR630,MYO9A,NR2E3,PARP6,PKM,SENP8,THAP10,THSD4,TMEM202,UACA chr15 70400000 73100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,CT62,GOLGA6B,GRAMD2,HEXA,HEXA-AS1,HIGD2B,LARP6,LRRC49,MIR630,MYO9A,NR2E3,PARP6,PKM,SENP8,THAP10,THSD4,TMEM202,UACA chr15 70400000 73100000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,CT62,GOLGA6B,GRAMD2,HEXA,HEXA-AS1,HIGD2B,LARP6,LRRC49,MIR630,MYO9A,NR2E3,PARP6,PKM,SENP8,THAP10,THSD4,TMEM202,UACA chr15 70400000 73100000 Loss Urothelial cell carcinoma FISH 18451213 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,CT62,GOLGA6B,GRAMD2,HEXA,HEXA-AS1,HIGD2B,LARP6,LRRC49,MIR630,MYO9A,NR2E3,PARP6,PKM,SENP8,THAP10,THSD4,TMEM202,UACA chr15 70400000 76100000 Copy number phobic disorder Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Deletion Disorders of sex development aCGH 22290220 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Deletion Mental retardation References 19951919 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome aCGH 22180641 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome array CGH 19921647 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome array-CGH 19921647 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome MLPA 22283845 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome References 22216833 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion craniofacial dysmorphism Array CGH 17932688 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion Developmental delay Array CGH 17932688 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion digital and genital abnormalities Array CGH 17932688 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70400000 76100000 Microdeletion Mental retardation CGH 17360722 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf39,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CT62,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,IMP3,ISLR,ISLR2,LARP6,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MAN2C1,MIR4313,MIR4513,MIR630,MIR631,MPI,MYO9A,NEIL1,NEO1,NPTN,NR2E3,ODF3L1,PARP6,PKM,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SENP8,SIN3A,SNUPN,SNX33,STOML1,STRA6,TBC1D21,THAP10,THSD4,TMEM202,UACA,UBL7,ULK3 chr15 70408461 70408632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70408647 70408828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70422832 70455457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70422832 70455457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70422833 70455393 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70423657 70423757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70455508 70458183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70473492 70473592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70477704 70487424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70477704 70487424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70477704 70487424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70528849 70529849 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 70535066 70536066 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 70535278 70536278 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 70543560 70578255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70553721 70662877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70553721 70662877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70553721 70662877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70557035 70557130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70561093 70562093 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 70574704 70575004 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 70577951 70578255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70606839 70907613 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 70606839 70907613 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr15 70666612 70666708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70676455 70676555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70683501 70696500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 70691215 70691458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70691261 70691427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70691261 70691427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70708001 70710500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 70734092 70746791 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70734092 70746791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70743941 70744206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70744011 70744175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70744011 70744175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70755179 70765543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70755208 70765543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70755208 70765543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70764625 73807021 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 ADPGK,ADPGK-AS1,ARIH1,BBS4,C15orf60,CELF6,CT62,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,LARP6,LRRC49,MIR630,MYO9A,NEO1,NR2E3,PARP6,PKM,SENP8,THAP10,THSD4,TMEM202,UACA chr15 70765588 70817869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70765601 70817869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70765601 70817869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 7076588 70817869 Copy number Autism exome sequencing 22495311 AAGAB,ACTC1,ADAL,ADAM10,ALDH1A2,ANKDD1A,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANXA2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARPP19,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BCL2L10,BLOC1S6,BMF,BNIP2,BUB1B,C15orf23,C15orf29,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCNB2,CCNDBP1,CCPG1,CDAN1,CEP152,CGNL1,CHAC1,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA7,CHST14,CILP,CKMT1A,CKMT1B,CLN6,CLPX,COPS2,CORO2B,CSNK1A1P1,CSNK1G1,CTDSPL2,CTXN2,CXADRP2,CYFIP1,CYP19A1,DAPK2,DCAF13P3,DENND4A,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJC17,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,EXD1,FAM189A1,FAM214A,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FBN1,FBXL22,FEM1B,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSIP1,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GJD2,GLCE,GLDN,GNB5,GOLGA6L1,GOLGA6L6,GOLGA6L7P,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GREM1,GTF2A2,HAUS2,HDC,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HMGN2P46,HSP90AB4P,IGDCC3,IGDCC4,INO80,IPW,IQCH,IQCH-AS1,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIF23,KLF13,LACTB,LCMT2,LCTL,LDHAL6B,LEO1,LINC00277,LINC00593,LIPC,LOC100128714,LOC100130855,LOC100131089,LOC100288637,LOC100289656,LOC100505648,LOC145663,LOC145783,LOC145837,LOC145845,LOC283663,LOC283683,LOC283710,LOC348120,LOC503519,LOC645212,LOC646214,LOC646278,LOC653061,LOC653075,LOC727924,LPCAT4,LRRC57,LTK,LYSMD2,MAGEL2,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MEGF11,MEIS2,MFAP1,MGA,MGC15885,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1282,MIR147B,MIR190A,MIR211,MIR2116,MIR3942,MIR4310,MIR4311,MIR4312,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4712,MIR4713,MIR4715,MIR4716,MIR548H4,MIR626,MIR627,MIR628,MIR629,MKRN3,MNS1,MRPL42P5,MTFMT,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NF1P2,NIPA1,NIPA2,NOP10,NOX5,NPAP1,NUSAP1,OAZ2,OCA2,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PATL2,PDCD7,PDIA3,PGBD4,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,POLR2M,POTEB,PPIB,PPIP5K1,PPP1R14D,PRTG,PTPLAD1,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRP1,RASL12,RBPMS2,REREP3,RFX7,RHOV,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCARNA14,SCG3,SCG5,SECISBP2L,SEMA6D,SERF2,SERF2-C15ORF63,SERINC4,SHC4,SHF,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A2,SLC30A4,SLC51B,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNURF,SNX1,SNX22,SORD,SPATA5L1,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,STARD9,STRC,TCF12,TEX9,TGM5,TGM7,THBS1,TIPIN,TJP1,TLE3,TLN2,TMCO5A,TMCO5B,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TTBK2,TUBGCP4,TUBGCP5,TYRO3,UBAP1L,UBE3A,UBR1,ULK4P1,ULK4P2,ULK4P3,UNC13C,USP3,USP50,USP8,VPS13C,VPS18,VPS39,WDR72,WDR76,WHAMMP1,WHAMMP2,WHAMMP3,ZFP106,ZFYVE19,ZNF280D,ZNF609,ZNF770,ZSCAN29,ZWILCH chr15 70778744 70779744 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 70794484 73322523 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,CT62,GOLGA6B,GRAMD2,HEXA,HEXA-AS1,HIGD2B,LARP6,LRRC49,MIR630,MYO9A,NR2E3,PARP6,PKM,SENP8,THAP10,THSD4,TMEM202,UACA chr15 70812027 70812071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70830763 70863114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70830763 70863114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 70830763 70863125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 70836792 70837792 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 70838630 70838709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70853151 70853251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70902114 70903114 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 70902144 70903144 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 70914036 71721576 LOH Normal High-resolution SNP genotyping 21211785 CT62,LARP6,LRRC49,THAP10,THSD4,UACA chr15 70928547 70928640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 70929346 70930346 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 70929694 70952477 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UACA chr1 57093065 57156482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKAA2 chr1 57093065 57156482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKAA2 chr15 70936517 70937517 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 70963589 70963688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UACA chr15 70964797 70965797 Gain Renal cell carcinoma References 21215367 UACA chr1 57100000 61500000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 C1orf168,C1orf87,C8A,C8B,CYP2J2,DAB1,FGGY,HOOK1,HSD52,JUN,LOC100131060,MIR4711,MYSM1,OMA1,PRKAA2,TACSTD2 chr15 71025001 71026500 Copy number Normal ReadDepth: A Parallel R Package 21305028 UACA chr15 71054650 71054750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UACA chr1 57106906 57143670 Gain and loss Pancreatic cancer SNP array 17952125 PRKAA2 chr15 71131928 71384596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARP6,LRRC49,THAP10 chr15 71131928 71384596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARP6,LRRC49,THAP10 chr15 71131950 71382835 Gain and loss Pancreatic cancer SNP array 17952125 LARP6,LRRC49,THAP10 chr15 71183364 71184364 Gain Renal cell carcinoma References 21215367 THAP10 chr15 71199302 71199402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC49 chr15 71205614 75143717 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADPGK,ADPGK-AS1,ARID3B,ARIH1,BBS4,C15orf59,C15orf60,CCDC33,CD276,CELF6,CLK3,CPLX3,CSK,CT62,CYP11A1,CYP1A1,CYP1A2,EDC3,GOLGA6A,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,LRRC49,MIR4513,MIR630,MYO9A,NEO1,NPTN,NR2E3,PARP6,PKM,PML,SCAMP2,SEMA7A,SENP8,STOML1,STRA6,TBC1D21,THSD4,TMEM202,UBL7,ULK3 chr15 71213961 71214961 Gain Renal cell carcinoma References 21215367 LRRC49 chr15 71232070 71232170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC49 chr15 71270713 71270896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC49 chr1 57132033 57132121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKAA2 chr15 71329200 71330200 Gain Renal cell carcinoma References 21215367 LRRC49 chr15 71397001 71449500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CT62,THSD4 chr15 71400988 71448230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CT62,THSD4 chr15 71400988 71448230 Gain and loss Pancreatic cancer SNP array 17952125 CT62,THSD4 chr15 71400988 71448230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CT62,THSD4 chr15 71412796 71412925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 71416015 71417015 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 71445698 71446698 Loss Renal cell carcinoma References 21215367 THSD4 chr15 71474848 71475848 Loss Renal cell carcinoma References 21215367 THSD4 chr15 71476446 71476546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71487405 71488405 Gain Renal cell carcinoma References 21215367 THSD4 chr15 71493543 71493643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71504477 71504567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71506457 71507457 Gain Renal cell carcinoma References 21215367 THSD4 chr15 71521793 71522793 Gain Renal cell carcinoma References 21215367 THSD4 chr15 71522552 71639404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71522552 71639404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71522572 71639404 Gain and loss Pancreatic cancer SNP array 17952125 THSD4 chr15 71523563 71524563 Gain Renal cell carcinoma References 21215367 THSD4 chr15 71565553 71565653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71593108 71593208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71595328 72347927 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 MYO9A,NR2E3,THSD4 chr1 5716081 5716181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 71635273 71635373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71639410 71712806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71639410 71712806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71639410 71782827 Gain and loss Pancreatic cancer SNP array 17952125 THSD4 chr15 71649801 71649891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71650477 71665655 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 THSD4 chr15 71654128 71665655 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 THSD4 chr1 57167473 57204276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf168,PRKAA2 chr1 57167473 57204276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf168,PRKAA2 chr15 71724189 71724489 Gain Renal cell carcinoma References 21215367 THSD4 chr15 71749049 71750049 Loss Renal cell carcinoma References 21215367 THSD4 chr15 71750801 72029100 Copy number Normal ReadDepth: A Parallel R Package 21305028 THSD4 chr1 57175347 57297452 Deletion Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 C1orf168,PRKAA2 chr1 57175719 57468759 Gain and loss Pancreatic cancer SNP array 17952125 C1orf168,C8A,C8B,DAB1,PRKAA2 chr15 71761501 72001500 Copy number Normal ReadDepth: A Parallel R Package 21305028 THSD4 chr15 71762075 71762169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71763675 71793903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71763675 71793903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71763758 71793903 Gain and loss Pancreatic cancer SNP array 17952125 THSD4 chr1 57178309 57522491 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf168,C8A,C8B,DAB1,PRKAA2 chr15 71784115 71785115 Gain Renal cell carcinoma References 21215367 THSD4 chr15 71787207 71787307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71792849 71793842 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 THSD4 chr1 57180580 57180644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKAA2 chr15 71812475 71812510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71819205 71830869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71819205 71830869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71824286 71824456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD4 chr15 71830687 71831687 Loss Renal cell carcinoma References 21215367 THSD4 chr15 71848864 71849229 Gain and loss Pancreatic cancer SNP array 17952125 THSD4 chr15 71897391 71897491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD4 chr15 71912379 71912459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD4 chr15 71920251 71921251 Loss Renal cell carcinoma References 21215367 THSD4 chr1 57194880 57194954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf168 chr15 71951259 71951438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD4 chr15 71953021 71968603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71953021 71968603 Gain and loss Pancreatic cancer SNP array 17952125 THSD4 chr15 71953021 71968603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71955889 71956889 Gain Renal cell carcinoma References 21215367 THSD4 chr15 71970803 71970881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 71978275 72022786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THSD4 chr15 71982673 72016254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THSD4 chr15 72001501 72036500 Copy number Normal ReadDepth: A Parallel R Package 21305028 THSD4 chr15 72002167 72251969 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MYO9A,NR2E3,THSD4 chr15 72002167 72251969 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MYO9A,NR2E3,THSD4 chr15 72002909 72044551 Amplification or deletion Cancer Array CGH 17440070 THSD4 chr15 72005841 72031531 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 THSD4 chr15 72005842 72031531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 72005842 72031531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 72005852 72031528 Gain and loss Pancreatic cancer SNP array 17952125 THSD4 chr15 72016248 72105212 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 NR2E3,THSD4 chr15 72029101 72256800 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO9A,NR2E3,THSD4 chr15 72036501 72207000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO9A,NR2E3,THSD4 chr1 57204541 57204623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf168 chr15 72062614 72071688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 72062614 72071688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD4 chr15 72062614 72071744 Gain and loss Pancreatic cancer SNP array 17952125 THSD4 chr15 72074066 72127208 Gain or loss Breast cancer - 20668451 MYO9A,NR2E3,THSD4 chr15 72074066 72127208 Gain or loss Cancer - 20668451 MYO9A,NR2E3,THSD4 chr15 72074066 72127208 Gain or loss Lung cancer - 20668451 MYO9A,NR2E3,THSD4 chr15 72074066 72127208 Gain or loss Ovarian cancer - 20668451 MYO9A,NR2E3,THSD4 chr15 72074066 72127208 Gain or loss Pancreas cancer - 20668451 MYO9A,NR2E3,THSD4 chr15 72074066 72127208 Gain or loss Prostate cancer - 20668451 MYO9A,NR2E3,THSD4 chr15 72074067 72126162 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A,NR2E3,THSD4 chr15 72074067 72127204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9A,NR2E3,THSD4 chr15 72074067 72127204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A,NR2E3,THSD4 chr15 72083359 72084359 Loss Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 72083359 72084359 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 72099848 72101500 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr15 72101680 72102680 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 72101680 72102680 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 72101746 72102746 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 72106335 72106382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR2E3 chr15 72123132 72123232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO9A chr15 72125930 73833248 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ADPGK,ADPGK-AS1,ARIH1,BBS4,C15orf60,CELF6,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,MIR630,MYO9A,NEO1,PARP6,PKM,SENP8,TMEM202 chr15 72139674 72140674 Loss Renal cell carcinoma References 21215367 MYO9A chr15 72141855 72144841 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A chr15 72141855 72144841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72146725 72151775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO9A chr15 72149012 72156247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO9A chr15 72149251 72161944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72149251 72161944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72150304 72161903 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A chr15 72151836 72152101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72151867 72152031 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A chr15 72151867 72152031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72155466 72156543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO9A chr15 72156884 72163808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO9A chr15 72163815 72165016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO9A chr15 72164227 73949332 Deletion Normal - 21701786 ADPGK,ADPGK-AS1,ARIH1,BBS4,C15orf60,CELF6,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,MIR630,MYO9A,NEO1,NPTN,PARP6,PKM,SENP8,TMEM202 chr15 72164607 72180018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO9A chr15 72174238 72179639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72176493 72177811 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A chr15 72195536 72195636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO9A chr15 72205941 72206941 Loss Renal cell carcinoma References 21215367 MYO9A chr15 72207001 72214500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO9A chr15 72208752 72216194 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A chr15 72208768 72216194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72208768 72216194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72209795 72216196 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MYO9A chr15 72214501 72217000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO9A chr15 72224840 100192115 Duplication Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARID3B,ARIH1,ARNT2,ARRDC4,ASB9P1,BBS4,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf59,C15orf60,CCDC33,CD276,CELF6,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CLK3,COMMD4,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSPG4,CTSH,CYP11A1,CYP1A1,CYP1A2,DET1,DNAJA4,DNM1P35,DNM1P41,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM219B,FANCI,FBXO22,FBXO22-AS1,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,GRAMD2,HAPLN3,HCN4,HDDC3,HDGFRP3,HEXA,HEXA-AS1,HIGD2B,HMG20A,HOMER2,IDH2,IDH3A,IGF1R,IL16,IMP3,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINC00597,LINGO1,LMAN1L,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,MAN2A2,MAN2C1,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4313,MIR4513,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR630,MIR631,MIR7-2,MIR9-3,MORF4L1,MPI,MRPL46,MRPS11,MTHFS,MYO9A,NEIL1,NEO1,NGRN,NMB,NPTN,NR2F2,NRG4,NTRK3,NTRK3-AS1,ODF3L1,PARP6,PDE8A,PEAK1,PEX11A,PGPEP1L,PKM,PLIN1,PML,POLG,PPCDC,PRC1,PSMA4,PSTPIP1,PTPN9,RASGRF1,RCCD1,RCN2,RGMA,RHCG,RLBP1,RPP25,RPS17,RPS17L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA4B,SEMA7A,SENP8,SH2D7,SH3GL3,SIN3A,SLC28A1,SLCO3A1,SNUPN,SNX33,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TBC1D21,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TMEM202,TSPAN3,TTC23,TTLL13,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr1 57222888 57315744 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf168 chr15 72235517 72236517 Gain Renal cell carcinoma References 21215367 MYO9A chr15 72250001 72419000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO9A,SENP8 chr15 72253115 72256265 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A chr15 72253115 72256266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72253115 72256266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72254743 72259717 Copy number gain Normal High-resolution SNP genotyping 21211785 MYO9A chr15 72256801 72535100 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRAMD2,MYO9A,PARP6,PKM,SENP8 chr15 72258863 72282611 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A chr15 72258863 72288419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72258863 72288419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72259717 73222425 LOH Normal High-resolution SNP genotyping 21211785 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,GOLGA6B,GRAMD2,HEXA,HEXA-AS1,HIGD2B,MIR630,MYO9A,PARP6,PKM,SENP8,TMEM202 chr15 72291125 72292125 Gain Renal cell carcinoma References 21215367 MYO9A chr15 72296666 72300722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A chr15 72315720 72415851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9A,SENP8 chr15 72315720 72415851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9A,SENP8 chr15 72315794 72341999 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A chr1 57233039 58488763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf168,C8A,C8B,DAB1 chr15 72334260 73147925 LOH Normal High-resolution SNP genotyping 21211785 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,GOLGA6B,GRAMD2,HEXA,HEXA-AS1,HIGD2B,MIR630,MYO9A,PARP6,PKM,SENP8,TMEM202 chr15 72338745 72900764 LOH Normal High-resolution SNP genotyping 21211785 ARIH1,CELF6,GRAMD2,HEXA,HEXA-AS1,MIR630,MYO9A,PARP6,PKM,SENP8,TMEM202 chr15 72344914 72377014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO9A chr15 72346112 72415864 Gain and loss Pancreatic cancer SNP array 17952125 MYO9A,SENP8 chr15 72347927 73717297 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,MIR630,MYO9A,NEO1,PARP6,PKM,SENP8,TMEM202 chr15 72361453 73736472 LOH Normal High-resolution SNP genotyping 21211785 ADPGK,ADPGK-AS1,ARIH1,BBS4,C15orf60,CELF6,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,MIR630,MYO9A,NEO1,PARP6,PKM,SENP8,TMEM202 chr15 72375820 73730232 LOH Normal High-resolution SNP genotyping 21211785 ADPGK,ADPGK-AS1,ARIH1,BBS4,CELF6,GOLGA6B,GRAMD2,HCN4,HEXA,HEXA-AS1,HIGD2B,MIR630,MYO9A,NEO1,PARP6,PKM,SENP8,TMEM202 chr15 72396025 72396112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO9A chr15 72398516 72405908 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO9A chr15 72406571 72406671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO9A,SENP8 chr15 72417153 72447134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SENP8 chr15 72417153 72447134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP8 chr15 72417157 72447023 Gain and loss Pancreatic cancer SNP array 17952125 SENP8 chr15 72419001 72452500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRAMD2,SENP8 chr15 72431809 72431897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SENP8 chr15 72452501 72514500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRAMD2,PKM chr15 72458127 72458217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRAMD2 chr15 72488683 72513352 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GRAMD2,PKM chr15 72489376 72513329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAMD2,PKM chr15 72489376 72513329 Gain and loss Pancreatic cancer SNP array 17952125 GRAMD2,PKM chr15 72489376 72513329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD2,PKM chr15 72495903 72496903 Loss Renal cell carcinoma References 21215367 PKM chr15 72496041 72497041 Loss Renal cell carcinoma References 21215367 PKM chr1 57251724 57272764 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf168 chr15 72518045 72518119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKM chr15 72520035 72520100 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKM chr15 72524518 72524618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 72525371 72540576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARP6 chr15 72525371 72540576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARP6 chr15 72525371 72540582 Gain and loss Pancreatic cancer SNP array 17952125 PARP6 chr15 72535101 74407300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADPGK,ADPGK-AS1,ARIH1,BBS4,C15orf59,C15orf60,CD276,CELF6,GOLGA6A,GOLGA6B,HCN4,HEXA,HEXA-AS1,HIGD2B,LOXL1,LOXL1-AS1,MIR630,NEO1,NPTN,PARP6,PML,STOML1,TBC1D21,TMEM202 chr15 72538187 72549215 Duplication Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V14 BeadChip 22016809 PARP6 chr15 72570353 72570422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 72570353 72570423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 72583384 72584384 Loss Renal cell carcinoma References 21215367 CELF6 chr15 72613277 72642948 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HEXA chr15 72619769 72619828 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 72620600 72677521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEXA,HEXA-AS1 chr15 72620600 72677521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEXA,HEXA-AS1 chr15 72620600 72677523 Gain and loss Pancreatic cancer SNP array 17952125 HEXA,HEXA-AS1 chr15 72647738 72701316 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HEXA,HEXA-AS1,TMEM202 chr15 72670501 72681500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HEXA-AS1 chr15 72681501 72712500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM202 chr15 72687766 72709520 Gain and loss Pancreatic cancer SNP array 17952125 TMEM202 chr15 72687766 72709595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM202 chr15 72687766 72709595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM202 chr15 72709953 72775413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARIH1 chr15 72709953 72775413 Gain and loss Pancreatic cancer SNP array 17952125 ARIH1 chr15 72709953 72775413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARIH1 chr15 72712501 72841000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARIH1 chr15 72720842 72724916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 72720842 72724916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 57275106 57275256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf168 chr15 72785779 72785873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARIH1 chr15 72798936 72805004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARIH1 chr15 72798943 72804930 Gain and loss Pancreatic cancer SNP array 17952125 ARIH1 chr1 57281766 57300828 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C1orf168 chr15 72828237 72835994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARIH1 chr15 72828237 72835994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARIH1 chr15 72828257 72834505 Gain and loss Pancreatic cancer SNP array 17952125 ARIH1 chr15 72841001 72925500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARIH1,MIR630 chr15 72861768 72882557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARIH1,MIR630 chr15 72861768 72882557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARIH1,MIR630 chr15 72861768 72882565 Gain and loss Pancreatic cancer SNP array 17952125 ARIH1,MIR630 chr15 72878349 72878426 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARIH1 chr15 72879035 72879135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 72892237 72905148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 72892237 72910627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 72895617 72911196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 72895617 72911196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 72915513 72922533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 72915513 72922533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 72915513 72922740 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 72924249 72952728 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA6B chr15 72924250 72952759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6B chr15 72924250 72952759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6B chr15 72925501 73280500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADPGK,ADPGK-AS1,BBS4,GOLGA6B,HIGD2B chr15 7293374 100338915 Gain Wilms tumour 250K Genotyping Arrays 21544195 AAGAB,ABHD2,ACAN,ACSBG1,ACTC1,ADAL,ADAM10,ADAMTS7,ADAMTSL3,ADPGK,ADPGK-AS1,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A2,ALPK3,ANKDD1A,ANKRD34C,ANKRD63,ANP32A,ANP32A-IT1,ANP32AP1,ANPEP,ANXA2,AP3B2,AP3S2,AP4E1,APBA2,APH1B,AQP9,AQR,ARHGAP11A,ARHGAP11B,ARID3B,ARIH1,ARNT2,ARPP19,ARRDC4,ASB9P1,ATP10A,ATP8B4,ATPBD4,ATPBD4-AS1,AVEN,B2M,BAHD1,BBS4,BCL2A1,BCL2L10,BLM,BLOC1S6,BMF,BNC1,BNIP2,BTBD1,BUB1B,C15orf23,C15orf26,C15orf27,C15orf29,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf41,C15orf43,C15orf44,C15orf48,C15orf52,C15orf53,C15orf54,C15orf55,C15orf56,C15orf57,C15orf59,C15orf60,C15orf61,C15orf62,C15orf63,C2CD4A,C2CD4B,CA12,CALML4,CAPN3,CASC4,CASC5,CATSPER2,CATSPER2P1,CCDC33,CCNB2,CCNDBP1,CCPG1,CD276,CDAN1,CELF6,CEP152,CGNL1,CHAC1,CHD2,CHEK2P2,CHP1,CHRFAM7A,CHRM5,CHRNA3,CHRNA5,CHRNA7,CHRNB4,CHST14,CIB1,CIB2,CILP,CKMT1A,CKMT1B,CLK3,CLN6,CLPX,COMMD4,COPS2,CORO2B,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSNK1A1P1,CSNK1G1,CSPG4,CT62,CTDSPL2,CTSH,CTXN2,CXADRP2,CYFIP1,CYP11A1,CYP19A1,CYP1A1,CYP1A2,DAPK2,DCAF13P3,DENND4A,DET1,DIS3L,DISP2,DKFZP434L187,DLL4,DMXL2,DNAJA4,DNAJC17,DNM1P35,DNM1P41,DNM1P46,DPP8,DTWD1,DUOX1,DUOX2,DUOXA1,DUOXA2,DUT,DYX1C1,DYX1C1-CCPG1,EDC3,EFTUD1,EHD4,EID1,EIF2AK4,EIF3J,ELL3,EMC4,EMC7,EPB42,ETFA,EXD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM189A1,FAM214A,FAM219B,FAM227B,FAM63B,FAM81A,FAM82A2,FAM96A,FAM98B,FAN1,FANCI,FBN1,FBXL22,FBXO22,FBXO22-AS1,FEM1B,FES,FGF7,FLJ10038,FLJ27352,FMN1,FOXB1,FRMD5,FSD2,FSIP1,FURIN,GABARAPL3,GABPB1,GABPB1-AS1,GABRA5,GABRB3,GABRG3,GALK2,GANC,GATM,GCHFR,GCNT3,GCOM1,GDPGP1,GJD2,GLCE,GLDN,GNB5,GOLGA6A,GOLGA6B,GOLGA6C,GOLGA6D,GOLGA6L1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L6,GOLGA6L7P,GOLGA6L9,GOLGA8A,GOLGA8B,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8F,GOLGA8G,GOLGA8IP,GPR176,GRAMD2,GREM1,GTF2A2,HAPLN3,HAUS2,HCN4,HDC,HDDC3,HDGFRP3,HERC1,HERC2,HERC2P10,HERC2P2,HERC2P3,HERC2P7,HERC2P9,HEXA,HEXA-AS1,HIGD2B,HMG20A,HMGN2P46,HOMER2,HSP90AB4P,IDH2,IDH3A,IGDCC3,IGDCC4,IGF1R,IL16,IMP3,INO80,IPW,IQCH,IQCH-AS1,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,ITGA11,ITPKA,IVD,JMJD7,JMJD7-PLA2G4B,KBTBD13,KIAA0101,KIAA1024,KIAA1199,KIF23,KIF7,KLF13,KLHL25,LACTB,LARP6,LCMT2,LCTL,LDHAL6B,LEO1,LINC00052,LINC00277,LINC00593,LINC00597,LINGO1,LIPC,LMAN1L,LOC100128714,LOC100130855,LOC100131089,LOC100144604,LOC100288637,LOC100289656,LOC100505648,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145663,LOC145783,LOC145820,LOC145837,LOC145845,LOC253044,LOC254559,LOC283663,LOC283683,LOC283688,LOC283692,LOC283693,LOC283710,LOC283731,LOC283761,LOC338963,LOC348120,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC503519,LOC642423,LOC645212,LOC645752,LOC646214,LOC646278,LOC646938,LOC648809,LOC653061,LOC653075,LOC727849,LOC727915,LOC727924,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LPCAT4,LRRC28,LRRC49,LRRC57,LTK,LYSMD2,LYSMD4,MAGEL2,MAN2A2,MAN2C1,MAP1A,MAP2K1,MAP2K5,MAPK6,MAPKBP1,MCTP2,MEF2A,MEGF11,MEIS2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFAP1,MFGE8,MGA,MGC15885,MIR1179,MIR1233-1,MIR1233-2,MIR1266,MIR1272,MIR1276,MIR1282,MIR1469,MIR147B,MIR184,MIR190A,MIR211,MIR2116,MIR3175,MIR3529,MIR3942,MIR4310,MIR4311,MIR4312,MIR4313,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MIR4510,MIR4511,MIR4513,MIR4514,MIR4515,MIR4712,MIR4713,MIR4714,MIR4715,MIR4716,MIR5003,MIR5094,MIR548H4,MIR549,MIR626,MIR627,MIR628,MIR629,MIR630,MIR631,MIR7-2,MIR9-3,MKRN3,MNS1,MORF4L1,MPI,MRPL42P5,MRPL46,MRPS11,MTFMT,MTHFS,MTMR10,MYEF2,MYO1E,MYO5A,MYO5C,MYO9A,MYZAP,NARG2,NBEAP1,NDN,NDNL2,NDUFAF1,NDUFAF4P1,NEDD4,NEIL1,NEO1,NF1P2,NGRN,NIPA1,NIPA2,NMB,NOP10,NOX5,NPAP1,NPTN,NR2E3,NR2F2,NRG4,NTRK3,NTRK3-AS1,NUSAP1,OAZ2,OCA2,ODF3L1,OIP5,OIP5-AS1,ONECUT1,OR4M2,OR4N3P,OR4N4,OTUD7A,PAK6,PAQR5,PAR-SN,PAR1,PAR4,PAR5,PARP16,PARP6,PATL2,PDCD7,PDE8A,PDIA3,PEAK1,PEX11A,PGBD4,PGPEP1L,PHGR1,PIAS1,PIF1,PIGB,PIN4P1,PKM,PLA2G4B,PLA2G4D,PLA2G4E,PLA2G4F,PLCB2,PLEKHO2,PLIN1,PML,POLG,POLR2M,POTEB,PPCDC,PPIB,PPIP5K1,PPP1R14D,PRC1,PRTG,PSMA4,PSTPIP1,PTPLAD1,PTPN9,PWRN1,PWRN2,PYGO1,RAB11A,RAB27A,RAB8B,RAD51,RASGRF1,RASGRP1,RASL12,RBPMS2,RCCD1,RCN2,REREP3,RFX7,RGMA,RHCG,RHOV,RLBP1,RNF111,RNU6-28,RORA,RPAP1,RPL4,RPLP1,RPP25,RPS17,RPS17L,RPS27L,RPUSD2,RSL24D1,RTF1,RYR3,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA14,SCARNA15,SCG3,SCG5,SEC11A,SECISBP2L,SEMA4B,SEMA6D,SEMA7A,SENP8,SERF2,SERF2-C15ORF63,SERINC4,SH2D7,SH3GL3,SHC4,SHF,SIN3A,SKOR1,SLC12A1,SLC12A6,SLC24A1,SLC24A5,SLC27A2,SLC28A1,SLC28A2,SLC30A4,SLC51B,SLCO3A1,SLTM,SMAD3,SMAD6,SNAP23,SNAPC5,SNORD107,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD16,SNORD18A,SNORD18B,SNORD18C,SNORD64,SNRPN,SNUPN,SNURF,SNX1,SNX22,SNX33,SORD,SPATA5L1,SPATA8,SPESP1,SPG11,SPG21,SPINT1,SPPL2A,SPRED1,SPTBN5,SQRDL,SRP14,ST20,ST20-MTHFS,ST8SIA2,STARD5,STARD9,STOML1,STRA6,STRC,SV2B,SYNM,TBC1D21,TBC1D2B,TCF12,TEX9,TGM5,TGM7,THAP10,THBS1,THSD4,TICRR,TIPIN,TJP1,TLE3,TLN2,TM6SF1,TMC3,TMCO5A,TMCO5B,TMED3,TMEM202,TMEM62,TMEM87A,TMOD2,TMOD3,TNFAIP8L3,TP53BP1,TPM1,TRIM69,TRIP4,TRPM1,TRPM7,TSPAN3,TTBK2,TTC23,TTLL13,TUBGCP4,TUBGCP5,TYRO3,TYRO3P,UACA,UBAP1L,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBE3A,UBL7,UBR1,ULK3,ULK4P1,ULK4P2,ULK4P3,UNC13C,UNC45A,USP3,USP50,USP8,VPS13C,VPS18,VPS33B,VPS39,WDR61,WDR72,WDR73,WDR76,WDR93,WHAMM,WHAMMP1,WHAMMP2,WHAMMP3,ZFAND6,ZFP106,ZFYVE19,ZNF280D,ZNF592,ZNF609,ZNF710,ZNF770,ZNF774,ZSCAN2,ZSCAN29,ZWILCH chr15 72969450 72977622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIGD2B chr15 72969450 72977622 Gain and loss Pancreatic cancer SNP array 17952125 HIGD2B chr15 72969450 72977622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIGD2B chr15 72979382 72986515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BBS4 chr15 72979382 72986515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BBS4 chr15 72979387 72986231 Gain and loss Pancreatic cancer SNP array 17952125 BBS4 chr15 72985465 72986577 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BBS4 chr15 72990120 72997695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BBS4 chr15 72999672 73017438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BBS4 chr15 72999677 73017522 Gain and loss Pancreatic cancer SNP array 17952125 BBS4 chr15 73033810 73036858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73033810 73036858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73034778 73068337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADPGK chr15 73035378 73035977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 73062668 73062770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADPGK chr15 73062670 73062770 Gain and loss Pancreatic cancer SNP array 17952125 ADPGK chr15 73062671 73062770 Gain and loss Pancreatic cancer SNP array 17952125 ADPGK chr15 73070413 73070566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADPGK chr15 73074929 73100889 Gain and loss Pancreatic cancer SNP array 17952125 ADPGK,ADPGK-AS1 chr15 73074954 73100889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADPGK,ADPGK-AS1 chr15 73074954 73100889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADPGK,ADPGK-AS1 chr15 73086491 73086566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADPGK-AS1 chr15 73100000 100338915 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARID3B,ARNT2,ARRDC4,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf59,C15orf60,CCDC33,CD276,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CLK3,COMMD4,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSPG4,CTSH,CYP11A1,CYP1A1,CYP1A2,DET1,DNAJA4,DNM1P35,DNM1P41,DNM1P46,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM219B,FANCI,FBXO22,FBXO22-AS1,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6A,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HCN4,HDDC3,HDGFRP3,HMG20A,HOMER2,IDH2,IDH3A,IGF1R,IL16,IMP3,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINC00597,LINGO1,LMAN1L,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LYSMD4,MAN2A2,MAN2C1,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4313,MIR4513,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR631,MIR7-2,MIR9-3,MORF4L1,MPI,MRPL46,MRPS11,MTHFS,NEIL1,NEO1,NGRN,NMB,NPTN,NR2F2,NRG4,NTRK3,NTRK3-AS1,ODF3L1,PDE8A,PEAK1,PEX11A,PGPEP1L,PLIN1,PML,POLG,PPCDC,PRC1,PSMA4,PSTPIP1,PTPN9,RASGRF1,RCCD1,RCN2,RGMA,RHCG,RLBP1,RPP25,RPS17,RPS17L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA4B,SEMA7A,SH2D7,SH3GL3,SIN3A,SLC28A1,SLCO3A1,SNUPN,SNX33,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TBC1D21,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TSPAN3,TTC23,TTLL13,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 73100000 74400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C15orf59,C15orf60,CD276,GOLGA6A,HCN4,LOXL1,LOXL1-AS1,NEO1,NPTN,PML,STOML1,TBC1D21 chr15 73102980 73130119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73102980 73130119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73102987 73130119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 57316033 57316133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 73193637 73194263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73193649 73194263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 73200930 73201052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73207500 73208500 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73209935 73210935 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 73224366 73224465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 73240751 273867177 Copy number Normal - 22034057 ABHD2,ACAN,ACSBG1,ADAMTS17,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A3,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARID3B,ARNT2,ARRDC4,ASB7,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,C15orf59,C15orf60,CCDC33,CD276,CERS3,CHD2,CHRNA3,CHRNA5,CHRNB4,CHSY1,CIB1,CIB2,CLK3,COMMD4,COX5A,CPEB1,CPLX3,CRABP1,CRTC3,CSK,CSPG4,CTSH,CYP11A1,CYP1A1,CYP1A2,DDX11L9,DET1,DNAJA4,DNM1P35,DNM1P41,DNM1P46,EDC3,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FAM219B,FANCI,FBXO22,FBXO22-AS1,FES,FLJ42289,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6A,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HCN4,HDDC3,HDGFRP3,HMG20A,HOMER2,IDH2,IDH3A,IGF1R,IL16,IMP3,IQGAP1,IREB2,ISG20,ISL2,ISLR,ISLR2,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINC00597,LINGO1,LINS,LMAN1L,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145820,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283731,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440288,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729739,LOC729911,LOC91450,LOC91948,LOXL1,LOXL1-AS1,LRRC28,LRRK1,LYSMD4,MAN2A2,MAN2C1,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4313,MIR4513,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR631,MIR7-2,MIR9-3,MORF4L1,MPI,MRPL46,MRPS11,MTHFS,NEIL1,NEO1,NGRN,NMB,NPTN,NR2F2,NRG4,NTRK3,NTRK3-AS1,ODF3L1,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PDE8A,PEAK1,PEX11A,PGPEP1L,PLIN1,PML,POLG,PPCDC,PRC1,PSMA4,PSTPIP1,PTPN9,RASGRF1,RCCD1,RCN2,RGMA,RHCG,RLBP1,RPP25,RPS17,RPS17L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA4B,SEMA7A,SH2D7,SH3GL3,SIN3A,SLC28A1,SLCO3A1,SNRPA1,SNUPN,SNX33,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,STOML1,STRA6,SV2B,SYNM,TARSL2,TBC1D21,TBC1D2B,TICRR,TM2D3,TM6SF1,TMC3,TMED3,TSPAN3,TTC23,TTLL13,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UBL7,ULK3,UNC45A,VIMP,VPS33B,WASH3P,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 73247557 73248557 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73247894 73248894 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73256217 73256317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 73275631 73835466 LOH Normal High-resolution SNP genotyping 21211785 C15orf60,HCN4,NEO1 chr15 73278286 73291561 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 73278286 73291563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73278286 73291563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73280501 73318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 73281849 73282849 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 73295567 73296567 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73296060 73297060 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73296178 73297178 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73297296 73298296 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73297927 73298027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 73298345 73299345 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73298996 73299996 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 73302316 73303316 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 73329885 73375708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEO1 chr15 73332126 73349115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEO1 chr15 73333181 73374031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEO1 chr15 73337952 73349593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73337952 73349593 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73337952 73349593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73347793 73348058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73347863 73348027 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73347863 73348027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73369834 73370721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73372069 73372334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73372139 73372303 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73372139 73372303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73380001 73382000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEO1 chr15 73380904 73382340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73381028 73382073 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73401399 73401903 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73406501 73409000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEO1 chr15 73409001 73417000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEO1 chr15 73415427 73419665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73415427 73419665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73415453 73421321 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73415620 73415720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEO1 chr15 73417001 73419500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEO1 chr15 73419501 73437500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEO1 chr15 73426462 73434641 Gain or loss Breast cancer - 20668451 NEO1 chr15 73426462 73434641 Gain or loss Cancer - 20668451 NEO1 chr15 73426462 73434641 Gain or loss Lung cancer - 20668451 NEO1 chr15 73426462 73434641 Gain or loss Ovarian cancer - 20668451 NEO1 chr15 73426462 73434641 Gain or loss Pancreas cancer - 20668451 NEO1 chr15 73426462 73434641 Gain or loss Prostate cancer - 20668451 NEO1 chr15 73426463 73434639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73426463 73434639 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73426463 73434639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73430790 73456972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEO1 chr15 73433005 73433079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73435186 73447994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73435186 73447994 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73435186 73447994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73437501 73442500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEO1 chr15 73442501 73448500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEO1 chr15 73448773 73535177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73448773 73535177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEO1 chr15 73450330 73535177 Gain and loss Pancreatic cancer SNP array 17952125 NEO1 chr15 73463361 73463452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEO1 chr15 73531001 73535500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEO1 chr15 73546515 73658680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HCN4,NEO1 chr15 73546515 73658680 Gain and loss Pancreatic cancer SNP array 17952125 HCN4,NEO1 chr15 73546515 73658680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCN4,NEO1 chr15 73606508 73652936 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 HCN4 chr15 73617075 73617493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCN4 chr15 73617615 73617654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HCN4 chr15 73618745 73619314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCN4 chr15 73654366 73654668 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HCN4 chr15 73677479 73705774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73677479 73705774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73677488 73705132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 73708975 73709227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73717297 74920239 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ARID3B,C15orf59,C15orf60,CCDC33,CD276,CLK3,CYP11A1,GOLGA6A,ISLR,ISLR2,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,NPTN,PML,SEMA7A,STOML1,STRA6,TBC1D21,UBL7 chr15 73718481 73728102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73718481 73728102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 73718484 73728102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 73726501 73748500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf60 chr15 73728403 73738021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf60 chr15 73728403 73738021 Gain and loss Pancreatic cancer SNP array 17952125 C15orf60 chr15 73728403 73738021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf60 chr15 73748501 73784500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf60 chr15 73753721 73792244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf60 chr15 73753721 73792244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf60 chr15 73754019 73792151 Gain and loss Pancreatic cancer SNP array 17952125 C15orf60 chr15 73757727 73760148 Gain and loss Pancreatic cancer SNP array 17952125 C15orf60 chr15 73757727 73760148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf60 chr15 73784501 73840500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf60 chr15 73798593 73798893 Loss Renal cell carcinoma References 21215367 C15orf60 chr15 73803374 73807082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf60 chr15 73803374 73807082 Gain and loss Pancreatic cancer SNP array 17952125 C15orf60 chr15 73803374 73807082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf60 chr15 73817432 73818049 Gain and loss Pancreatic cancer SNP array 17952125 C15orf60 chr15 73818462 73901333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf60,NPTN chr15 73818479 73872103 Gain and loss Pancreatic cancer SNP array 17952125 C15orf60,NPTN chr15 73819066 73820066 Loss Renal cell carcinoma References 21215367 C15orf60 chr15 73826153 73826656 Gain and loss Pancreatic cancer SNP array 17952125 C15orf60 chr15 73826153 73826656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf60 chr15 73840501 73847000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf60 chr15 73844953 73845953 Loss Renal cell carcinoma References 21215367 C15orf60 chr15 73847001 73872500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf60,NPTN chr15 73848212 74678295 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C15orf59,C15orf60,CCDC33,CD276,CYP11A1,GOLGA6A,ISLR,ISLR2,LOC283731,LOC729739,LOXL1,LOXL1-AS1,NPTN,PML,STOML1,STRA6,TBC1D21 chr15 73860360 73866370 Gain and loss Pancreatic cancer SNP array 17952125 NPTN chr15 73862215 73863180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPTN chr15 73864422 73866376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPTN chr15 73864505 73864781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPTN chr15 73864569 73864732 Gain and loss Pancreatic cancer SNP array 17952125 NPTN chr15 73864569 73864732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPTN chr15 73876653 73909508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NPTN chr15 73887705 73888035 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPTN chr15 73888296 73888405 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPTN chr15 73903134 75680044 LOH Normal High-resolution SNP genotyping 21211785 ARID3B,C15orf39,C15orf59,CCDC33,CD276,CLK3,COMMD4,COX5A,CPLX3,CSK,CYP11A1,CYP1A1,CYP1A2,EDC3,FAM219B,GOLGA6A,GOLGA6C,GOLGA6D,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,MAN2C1,MIR4513,MIR631,MPI,NEIL1,NPTN,PML,PPCDC,RPP25,SCAMP2,SCAMP5,SEMA7A,SIN3A,STOML1,STRA6,TBC1D21,UBL7,ULK3 chr15 73913216 73913516 Gain Renal cell carcinoma References 21215367 NPTN chr15 73917848 75680044 LOH Normal High-resolution SNP genotyping 21211785 ARID3B,C15orf39,C15orf59,CCDC33,CD276,CLK3,COMMD4,COX5A,CPLX3,CSK,CYP11A1,CYP1A1,CYP1A2,EDC3,FAM219B,GOLGA6A,GOLGA6C,GOLGA6D,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,MAN2C1,MIR4513,MIR631,MPI,NEIL1,NPTN,PML,PPCDC,RPP25,SCAMP2,SCAMP5,SEMA7A,SIN3A,STOML1,STRA6,TBC1D21,UBL7,ULK3 chr15 73922855 73980435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD276,NPTN chr15 73922855 73980435 Gain and loss Pancreatic cancer SNP array 17952125 CD276,NPTN chr15 73922855 73980435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD276,NPTN chr15 73933936 75680044 LOH Normal High-resolution SNP genotyping 21211785 ARID3B,C15orf39,C15orf59,CCDC33,CD276,CLK3,COMMD4,COX5A,CPLX3,CSK,CYP11A1,CYP1A1,CYP1A2,EDC3,FAM219B,GOLGA6A,GOLGA6C,GOLGA6D,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,MAN2C1,MIR4513,MIR631,MPI,NEIL1,PML,PPCDC,RPP25,SCAMP2,SCAMP5,SEMA7A,SIN3A,STOML1,STRA6,TBC1D21,UBL7,ULK3 chr15 73977396 73977464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD276 chr15 73983124 73983300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD276 chr15 73983254 74013999 Gain or loss Breast cancer - 20668451 CD276 chr15 73983254 74013999 Gain or loss Cancer - 20668451 CD276 chr15 73983254 74013999 Gain or loss Lung cancer - 20668451 CD276 chr15 73983254 74013999 Gain or loss Ovarian cancer - 20668451 CD276 chr15 73983254 74013999 Gain or loss Pancreas cancer - 20668451 CD276 chr15 73983254 74013999 Gain or loss Prostate cancer - 20668451 CD276 chr15 73983255 74013999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD276 chr15 73983255 74013999 Gain and loss Pancreatic cancer SNP array 17952125 CD276 chr15 73983255 74013999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD276 chr15 73983311 73983532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD276 chr15 73983332 73983432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD276 chr15 74020333 74091842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf59 chr15 74020333 74091842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf59 chr15 74021385 74091842 Gain and loss Pancreatic cancer SNP array 17952125 C15orf59 chr15 74022439 74139124 Gain or loss Breast cancer - 20668451 C15orf59 chr15 74022439 74139124 Gain or loss Cancer - 20668451 C15orf59 chr15 74022439 74139124 Gain or loss Lung cancer - 20668451 C15orf59 chr15 74022439 74139124 Gain or loss Ovarian cancer - 20668451 C15orf59 chr15 74022439 74139124 Gain or loss Pancreas cancer - 20668451 C15orf59 chr15 74022439 74139124 Gain or loss Prostate cancer - 20668451 C15orf59 chr15 74053272 74053372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 74058188 74058335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 74058189 74404449 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GOLGA6A,LOXL1,LOXL1-AS1,PML,STOML1,TBC1D21 chr15 74058221 74058335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 74058268 74058335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 74082339 74082439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 57410174 57437079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C8B chr15 74119158 74140173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 74119878 74146490 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 74127925 74131944 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 74139354 74284358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOXL1,LOXL1-AS1,STOML1,TBC1D21 chr15 74139354 74284358 Gain and loss Pancreatic cancer SNP array 17952125 LOXL1,LOXL1-AS1,STOML1,TBC1D21 chr15 74139354 74284358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOXL1,LOXL1-AS1,STOML1,TBC1D21 chr15 74181445 74181545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D21 chr15 74185911 75841572 LOH Normal High-resolution SNP genotyping 21211785 ARID3B,C15orf39,CCDC33,CLK3,COMMD4,COX5A,CPLX3,CSK,CYP11A1,CYP1A1,CYP1A2,EDC3,FAM219B,GOLGA6A,GOLGA6C,GOLGA6D,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,LOXL1-AS1,MAN2C1,MIR4513,MIR631,MPI,NEIL1,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SIN3A,STOML1,STRA6,UBL7,ULK3 chr15 74223281 74223376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOXL1 chr1 57422793 57422893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C8B chr15 74231953 75780145 LOH Normal High-resolution SNP genotyping 21211785 ARID3B,C15orf39,CCDC33,CLK3,COMMD4,COX5A,CPLX3,CSK,CYP11A1,CYP1A1,CYP1A2,EDC3,FAM219B,GOLGA6A,GOLGA6C,GOLGA6D,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,LOXL1,MAN2C1,MIR4513,MIR631,MPI,NEIL1,PML,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SIN3A,STOML1,STRA6,UBL7,ULK3 chr15 74238501 74289500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOXL1,PML,STOML1 chr15 74285720 74319893 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PML,STOML1 chr15 74295646 74390865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6A,PML chr15 74295646 74390865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6A,PML chr15 74295691 74390854 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA6A,PML chr15 74338001 74341000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PML chr15 74338631 74340980 Gain and loss Pancreatic cancer SNP array 17952125 PML chr15 74340080 74340165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PML chr15 74391671 74425425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ISLR2,LOC283731 chr15 74400000 76100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARID3B,C15orf39,CCDC33,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6C,GOLGA6D,IMP3,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,MAN2C1,MIR4313,MIR4513,MIR631,MPI,NEIL1,ODF3L1,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SIN3A,SNUPN,SNX33,STRA6,UBL7,ULK3 chr15 74400000 76100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARID3B,C15orf39,CCDC33,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CYP11A1,CYP1A1,CYP1A2,DNM1P35,EDC3,FAM219B,GOLGA6C,GOLGA6D,IMP3,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,MAN2C1,MIR4313,MIR4513,MIR631,MPI,NEIL1,ODF3L1,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SIN3A,SNUPN,SNX33,STRA6,UBL7,ULK3 chr15 74407301 75545800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARID3B,C15orf39,CCDC33,CLK3,COX5A,CPLX3,CSK,CYP11A1,CYP1A1,CYP1A2,EDC3,FAM219B,ISLR,ISLR2,LMAN1L,LOC283731,LOC440288,LOC729739,MIR4513,MPI,PPCDC,RPP25,SCAMP2,SCAMP5,SEMA7A,STRA6,UBL7,ULK3 chr15 74416201 74421870 Gain and loss Pancreatic cancer SNP array 17952125 ISLR2,LOC283731 chr15 74416202 74421871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ISLR2,LOC283731 chr15 74416202 74421871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISLR2,LOC283731 chr15 74417001 74422500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ISLR2,LOC283731 chr15 74427593 74984799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID3B,CCDC33,CLK3,CYP11A1,EDC3,ISLR,ISLR2,LOC440288,LOC729739,SEMA7A,STRA6,UBL7 chr15 74427593 74984799 Gain and loss Pancreatic cancer SNP array 17952125 ARID3B,CCDC33,CLK3,CYP11A1,EDC3,ISLR,ISLR2,LOC440288,LOC729739,SEMA7A,STRA6,UBL7 chr15 74427593 74984799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID3B,CCDC33,CLK3,CYP11A1,EDC3,ISLR,ISLR2,LOC440288,LOC729739,SEMA7A,STRA6,UBL7 chr15 74446191 74446265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 74461820 74461893 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 74461820 74461893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 5744852 5744952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 74495281 74495356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STRA6 chr15 74531357 74573896 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 CCDC33 chr15 74555087 74555187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC33 chr15 74556140 74556235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC33 chr15 74613073 74614668 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC33 chr15 74647253 74682818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP11A1,LOC729739 chr15 74649207 74694066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP11A1,LOC729739 chr15 74652719 74691349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP11A1,LOC729739 chr15 74655270 74682818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP11A1 chr15 74656984 74682818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP11A1 chr15 74656984 74689312 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP11A1 chr15 74665417 74682387 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 74665417 74682818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 74666391 74699248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 74667683 74701343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 74669280 74689542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 74670838 74671135 Loss Normal 244K array 17666407 NOT_FOUND chr15 74671070 74683868 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 74671135 74680367 Loss or gain Normal 244K array 17666407 NOT_FOUND chr15 74671396 74685024 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 74671501 74683500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 74671652 74683993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 74678285 74689236 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr15 74678296 74682822 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 74678296 74682828 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 74678296 74682830 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 74678296 74682830 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 74678296 74682830 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 74678296 74689249 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 74678554 74682818 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 74678554 74689312 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 74678554 74689487 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 74678554 74689681 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 74678554 74693437 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 74678555 74689221 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr15 74678566 74682830 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 74682831 76002735 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ARID3B,C15orf39,CLK3,COMMD4,COX5A,CPLX3,CSK,CSPG4,CYP1A1,CYP1A2,EDC3,FAM219B,GOLGA6C,GOLGA6D,IMP3,LMAN1L,LOC440288,MAN2C1,MIR4513,MIR631,MPI,NEIL1,PPCDC,PTPN9,RPP25,SCAMP2,SCAMP5,SEMA7A,SIN3A,SNUPN,SNX33,UBL7,ULK3 chr15 74735339 74929817 Loss Autism qPCR 20531469 ARID3B,CLK3,EDC3,LOC440288,UBL7 chr15 74816037 74816275 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 74816037 74816343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 74816037 74816366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 74957605 75160503 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CPLX3,CSK,CYP1A1,CYP1A2,EDC3,LMAN1L,MIR4513,SCAMP2,ULK3 chr15 75011134 75029302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP1A1 chr15 75011134 75029302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP1A1 chr15 75011177 75028771 Gain and loss Pancreatic cancer SNP array 17952125 CYP1A1 chr15 75030116 75031116 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 75052501 75094000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSK,MIR4513 chr15 75056311 75056606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 75056311 75056606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 75056313 75056606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 75058428 75059235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 75074609 75116726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSK,LMAN1L,MIR4513 chr15 75074609 75116726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSK,LMAN1L,MIR4513 chr15 75080637 75116726 Gain and loss Pancreatic cancer SNP array 17952125 CSK,LMAN1L,MIR4513 chr15 75081690 75081775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSK chr15 75093516 75121674 Copy number Lung cancer paired-end sequencing 18438408 CPLX3,CSK,LMAN1L chr15 75094001 75119500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CPLX3,CSK,LMAN1L chr15 75101874 75118804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMAN1L chr15 75108769 75131321 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPLX3,LMAN1L,ULK3 chr15 75112450 75120651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPLX3,LMAN1L chr15 75112964 75128644 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPLX3,LMAN1L,ULK3 chr15 75113906 75129464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPLX3,LMAN1L,ULK3 chr15 75117499 75119940 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CPLX3,LMAN1L chr15 75117802 75119777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPLX3,LMAN1L chr15 75125387 75150568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAMP2,ULK3 chr15 75125387 75150568 Gain and loss Pancreatic cancer SNP array 17952125 SCAMP2,ULK3 chr15 75125387 75150568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAMP2,ULK3 chr15 75135778 100338915 Copy number Lung cancer paired-end sequencing 18438408 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf39,C15orf40,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,COMMD4,COX5A,CPEB1,CRABP1,CRTC3,CSPG4,CTSH,DET1,DNAJA4,DNM1P35,DNM1P41,DNM1P46,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FAM219B,FANCI,FBXO22,FBXO22-AS1,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6C,GOLGA6D,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HMG20A,HOMER2,IDH2,IDH3A,IGF1R,IL16,IMP3,IQGAP1,IREB2,ISG20,ISL2,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINC00597,LINGO1,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91450,LOC91948,LRRC28,LYSMD4,MAN2A2,MAN2C1,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4313,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR631,MIR7-2,MIR9-3,MORF4L1,MPI,MRPL46,MRPS11,MTHFS,NEIL1,NGRN,NMB,NR2F2,NRG4,NTRK3,NTRK3-AS1,ODF3L1,PDE8A,PEAK1,PEX11A,PGPEP1L,PLIN1,POLG,PPCDC,PRC1,PSMA4,PSTPIP1,PTPN9,RASGRF1,RCCD1,RCN2,RGMA,RHCG,RLBP1,RPP25,RPS17,RPS17L,SCAMP2,SCAMP5,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SIN3A,SLC28A1,SLCO3A1,SNUPN,SNX33,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,SYNM,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TSPAN3,TTC23,TTLL13,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 75187526 75331928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COX5A,FAM219B,MPI,PPCDC,RPP25,SCAMP5 chr15 75187526 75331928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX5A,FAM219B,MPI,PPCDC,RPP25,SCAMP5 chr15 75187561 75258378 Gain and loss Pancreatic cancer SNP array 17952125 COX5A,FAM219B,MPI,RPP25 chr15 75195298 75195392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM219B chr15 75200000 75600000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 C15orf39,COX5A,GOLGA6C,GOLGA6D,PPCDC,RPP25,SCAMP5 chr15 75200000 76600000 Gain and amplification Multiple myeloma Array CGH 16616336 C15orf27,C15orf39,COMMD4,COX5A,CSPG4,DNM1P35,ETFA,FBXO22,FBXO22-AS1,GOLGA6C,GOLGA6D,IMP3,MAN2C1,MIR4313,MIR631,NEIL1,NRG4,ODF3L1,PPCDC,PTPN9,RPP25,SCAMP5,SIN3A,SNUPN,SNX33,TYRO3P,UBE2Q2 chr15 75213027 75213104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COX5A chr1 5752350 5752420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 75275509 75393496 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 PPCDC,SCAMP5 chr15 75276465 75276500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 75304179 75304463 Gain and loss Pancreatic cancer SNP array 17952125 SCAMP5 chr15 75323969 75357684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPCDC chr15 75335819 75366579 Loss Normal 244K array 17666407 PPCDC chr15 75341852 75341910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPCDC chr1 57534301 58484597 LOH Normal High-resolution SNP genotyping 21211785 DAB1 chr1 57535161 57577820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAB1 chr15 75357862 75358134 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 75357862 75358134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 57536930 57537020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 75375677 75377438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 75393153 75394153 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 75398338 75399338 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 75399092 75400092 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 75434177 75434477 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 75435335 75436335 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 75470310 75471310 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 75481966 75482966 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 75500285 75564998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf39,GOLGA6C chr15 75500285 75564998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf39,GOLGA6C chr1 57550433 57550618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DAB1 chr15 75522080 75523080 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 75537798 75564954 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA6C chr15 75539158 75539385 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 75545801 76532500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf27,COMMD4,CSPG4,DNM1P35,ETFA,FBXO22,FBXO22-AS1,GOLGA6C,GOLGA6D,IMP3,MAN2C1,MIR4313,MIR631,NEIL1,NRG4,ODF3L1,PTPN9,SIN3A,SNUPN,SNX33,UBE2Q2 chr1 57555487 57555587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 75594676 75625472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 75597707 75631874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COMMD4 chr15 75600108 75648132 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 COMMD4,MIR631,NEIL1 chr15 75604501 75628500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COMMD4 chr15 75615998 75616998 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 75628501 75631000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COMMD4 chr15 75631001 75939000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COMMD4,IMP3,MAN2C1,MIR631,NEIL1,PTPN9,SIN3A,SNUPN chr15 75649211 75649311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAN2C1 chr15 75682261 76254464 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CSPG4,DNM1P35,FBXO22,FBXO22-AS1,IMP3,MIR4313,NRG4,ODF3L1,PTPN9,SIN3A,SNUPN,SNX33,UBE2Q2 chr15 75692423 75711712 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 SIN3A chr15 75692424 75775530 Gain and loss Pancreatic cancer SNP array 17952125 PTPN9,SIN3A chr15 75693424 75711887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIN3A chr15 75696043 76302566 LOH Normal High-resolution SNP genotyping 21211785 CSPG4,DNM1P35,FBXO22,FBXO22-AS1,IMP3,MIR4313,NRG4,ODF3L1,PTPN9,SIN3A,SNUPN,SNX33,UBE2Q2 chr15 75697917 75698290 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SIN3A chr15 75697917 75698290 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SIN3A chr15 75783726 75784013 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPN9 chr15 75791535 75799708 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 PTPN9 chr15 75791535 75799708 Total allelic loss Normal High-resolution SNP genotyping 21211785 PTPN9 chr15 75793601 75801400 Deletion Glioma mate-paired sequence 20126413 PTPN9 chr15 75795271 75799522 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PTPN9 chr15 75795271 75799522 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 PTPN9 chr15 75795541 75799638 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPN9 chr15 75795562 75799714 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PTPN9 chr15 75801648 75801748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPN9 chr15 75814889 75848370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN9 chr15 75825604 75825674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPN9 chr15 75908049 76174598 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 CSPG4,DNM1P35,IMP3,MIR4313,ODF3L1,SNUPN,SNX33,UBE2Q2 chr15 75939001 75975500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSPG4,SNX33 chr15 75968445 75969445 Loss Renal cell carcinoma References 21215367 CSPG4 chr15 75968477 75969477 Loss Renal cell carcinoma References 21215367 CSPG4 chr15 75975501 75985500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSPG4 chr1 57598016 57627778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAB1 chr15 75985501 75990500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSPG4 chr15 75988000 76025029 Duplication Non-syndromic sensorineural hearing loss References 19212409 CSPG4,DNM1P35,ODF3L1 chr15 75990501 76012000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSPG4 chr15 75994608 75998671 Gain and loss Pancreatic cancer SNP array 17952125 CSPG4 chr15 75996115 75996379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSPG4 chr15 75996145 75996309 Gain and loss Pancreatic cancer SNP array 17952125 CSPG4 chr15 75996145 75996309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSPG4 chr15 75997724 75998653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSPG4 chr1 57600000 60500000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 C1orf87,CYP2J2,DAB1,FGGY,HOOK1,HSD52,JUN,LOC100131060,MIR4711,MYSM1,OMA1,TACSTD2 chr15 76012001 76024000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNM1P35,ODF3L1 chr15 76019308 76023996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM1P35,ODF3L1 chr15 76020825 76022146 Gain and loss Pancreatic cancer SNP array 17952125 DNM1P35 chr15 76050001 76080500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4313 chr15 76065868 76072684 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 76074383 76156912 Gain and loss Pancreatic cancer SNP array 17952125 UBE2Q2 chr15 76074383 76157121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2 chr15 76074383 76157121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2 chr15 76080501 76486500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C15orf27,FBXO22,FBXO22-AS1,NRG4,UBE2Q2 chr15 76100000 100338915 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DET1,DNAJA4,DNM1P41,DNM1P46,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FANCI,FBXO22,FBXO22-AS1,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HMG20A,HOMER2,IDH2,IDH3A,IGF1R,IL16,IQGAP1,IREB2,ISG20,ISL2,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINC00597,LINGO1,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91450,LOC91948,LRRC28,LYSMD4,MAN2A2,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NRG4,NTRK3,NTRK3-AS1,PDE8A,PEAK1,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,PSMA4,PSTPIP1,RASGRF1,RCCD1,RCN2,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,SYNM,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TSPAN3,TTC23,TTLL13,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 76100000 100338915 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DET1,DNAJA4,DNM1P41,DNM1P46,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FANCI,FBXO22,FBXO22-AS1,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HMG20A,HOMER2,IDH2,IDH3A,IGF1R,IL16,IQGAP1,IREB2,ISG20,ISL2,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINC00597,LINGO1,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91450,LOC91948,LRRC28,LYSMD4,MAN2A2,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NRG4,NTRK3,NTRK3-AS1,PDE8A,PEAK1,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,PSMA4,PSTPIP1,RASGRF1,RCCD1,RCN2,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,SYNM,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TSPAN3,TTC23,TTLL13,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 76100000 100338915 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf27,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DET1,DNAJA4,DNM1P41,DNM1P46,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FANCI,FBXO22,FBXO22-AS1,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HMG20A,HOMER2,IDH2,IDH3A,IGF1R,IL16,IQGAP1,IREB2,ISG20,ISL2,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINC00597,LINGO1,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91450,LOC91948,LRRC28,LYSMD4,MAN2A2,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NRG4,NTRK3,NTRK3-AS1,PDE8A,PEAK1,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,PSMA4,PSTPIP1,RASGRF1,RCCD1,RCN2,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,SYNM,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TSPAN3,TTC23,TTLL13,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 76100000 79500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSBG1,ADAMTS7,AGPHD1,C15orf27,CHRNA3,CHRNA5,CHRNB4,CIB2,CRABP1,CTSH,DNAJA4,ETFA,FBXO22,FBXO22-AS1,HMG20A,IDH3A,IREB2,ISL2,LINC00597,LINGO1,LOC253044,LOC645752,LOC646938,LOC729911,LOC91450,MIR5003,MORF4L1,NRG4,PEAK1,PSMA4,PSTPIP1,RASGRF1,RCN2,SCAPER,SH2D7,TBC1D2B,TSPAN3,TYRO3P,UBE2Q2,WDR61 chr15 76100000 79500000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 ACSBG1,ADAMTS7,AGPHD1,C15orf27,CHRNA3,CHRNA5,CHRNB4,CIB2,CRABP1,CTSH,DNAJA4,ETFA,FBXO22,FBXO22-AS1,HMG20A,IDH3A,IREB2,ISL2,LINC00597,LINGO1,LOC253044,LOC645752,LOC646938,LOC729911,LOC91450,MIR5003,MORF4L1,NRG4,PEAK1,PSMA4,PSTPIP1,RASGRF1,RCN2,SCAPER,SH2D7,TBC1D2B,TSPAN3,TYRO3P,UBE2Q2,WDR61 chr15 76100000 79500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSBG1,ADAMTS7,AGPHD1,C15orf27,CHRNA3,CHRNA5,CHRNB4,CIB2,CRABP1,CTSH,DNAJA4,ETFA,FBXO22,FBXO22-AS1,HMG20A,IDH3A,IREB2,ISL2,LINC00597,LINGO1,LOC253044,LOC645752,LOC646938,LOC729911,LOC91450,MIR5003,MORF4L1,NRG4,PEAK1,PSMA4,PSTPIP1,RASGRF1,RCN2,SCAPER,SH2D7,TBC1D2B,TSPAN3,TYRO3P,UBE2Q2,WDR61 chr15 76100000 86900000 Copy number Papillary thyroid carcinoma QRT-PCR 22161024 ACSBG1,ADAMTS7,ADAMTSL3,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,AP3B2,ARNT2,BCL2A1,BNC1,BTBD1,C15orf26,C15orf27,C15orf37,C15orf40,CHRNA3,CHRNA5,CHRNB4,CIB2,CPEB1,CRABP1,CTSH,DNAJA4,DNM1P41,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FBXO22,FBXO22-AS1,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HMG20A,HOMER2,IDH3A,IL16,IREB2,ISL2,KIAA1024,KIAA1199,KLHL25,LINC00597,LINGO1,LOC100505679,LOC100506874,LOC253044,LOC283688,LOC283692,LOC283693,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91450,MESDC1,MESDC2,MEX3B,MIR1276,MIR184,MIR4514,MIR4515,MIR5003,MIR549,MORF4L1,MTHFS,NMB,NRG4,PDE8A,PEAK1,PSMA4,PSTPIP1,RASGRF1,RCN2,RPS17,RPS17L,SCAND2,SCAPER,SCARNA15,SEC11A,SH2D7,SH3GL3,SLC28A1,ST20,ST20-MTHFS,STARD5,TBC1D2B,TM6SF1,TMC3,TMED3,TSPAN3,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR61,WDR73,WHAMM,ZFAND6,ZNF592,ZSCAN2 chr15 76100000 86900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACSBG1,ADAMTS7,ADAMTSL3,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,AP3B2,ARNT2,BCL2A1,BNC1,BTBD1,C15orf26,C15orf27,C15orf37,C15orf40,CHRNA3,CHRNA5,CHRNB4,CIB2,CPEB1,CRABP1,CTSH,DNAJA4,DNM1P41,EFTUD1,ETFA,FAH,FAM103A1,FAM108C1,FAM154B,FBXO22,FBXO22-AS1,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HMG20A,HOMER2,IDH3A,IL16,IREB2,ISL2,KIAA1024,KIAA1199,KLHL25,LINC00597,LINGO1,LOC100505679,LOC100506874,LOC253044,LOC283688,LOC283692,LOC283693,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91450,MESDC1,MESDC2,MEX3B,MIR1276,MIR184,MIR4514,MIR4515,MIR5003,MIR549,MORF4L1,MTHFS,NMB,NRG4,PDE8A,PEAK1,PSMA4,PSTPIP1,RASGRF1,RCN2,RPS17,RPS17L,SCAND2,SCAPER,SCARNA15,SEC11A,SH2D7,SH3GL3,SLC28A1,ST20,ST20-MTHFS,STARD5,TBC1D2B,TM6SF1,TMC3,TMED3,TSPAN3,TYRO3P,UBE2Q2,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR61,WDR73,WHAMM,ZFAND6,ZNF592,ZSCAN2 chr15 76105766 76141035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UBE2Q2 chr15 76117928 76117992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 76124104 76124204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 76157205 76184306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2 chr15 76157205 76184306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2 chr15 76170569 76170694 Gain and loss Pancreatic cancer SNP array 17952125 UBE2Q2 chr15 76170569 76170694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2 chr15 76170573 76170702 Gain and loss Pancreatic cancer SNP array 17952125 UBE2Q2 chr15 76177874 76182912 Gain and loss Pancreatic cancer SNP array 17952125 UBE2Q2 chr15 76184046 76210933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO22,UBE2Q2 chr15 76184046 76210933 Gain and loss Pancreatic cancer SNP array 17952125 FBXO22,UBE2Q2 chr15 76184046 76210933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO22,UBE2Q2 chr15 76198556 76199556 Gain Renal cell carcinoma References 21215367 FBXO22 chr1 57621273 58681838 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DAB1 chr15 76213159 76214159 Gain Renal cell carcinoma References 21215367 FBXO22 chr15 76217246 76217335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXO22 chr15 76221416 76221506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXO22 chr15 76228774 76249938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRG4 chr15 76228774 76249938 Gain and loss Pancreatic cancer SNP array 17952125 NRG4 chr15 76228774 76249938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRG4 chr15 76230487 76231487 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 76230619 76231619 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 76239134 76240134 Gain Renal cell carcinoma References 21215367 NRG4 chr15 76246399 76247399 Gain Renal cell carcinoma References 21215367 NRG4 chr15 76246865 76313913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRG4 chr15 76246865 76313913 Gain and loss Pancreatic cancer SNP array 17952125 NRG4 chr15 76246865 76313913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRG4 chr15 76247726 76248726 Gain Renal cell carcinoma References 21215367 NRG4 chr15 76248986 76249986 Gain Renal cell carcinoma References 21215367 NRG4 chr15 76254464 76759349 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C15orf27,ETFA,ISL2,NRG4,SCAPER,TYRO3P chr15 76264195 76799976 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C15orf27,ETFA,ISL2,NRG4,SCAPER,TYRO3P chr15 76314103 76314168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 57632775 57657135 Substitutions and indels small cell lung cancer array-CGH 20016488 DAB1 chr15 76333727 76895276 LOH Normal High-resolution SNP genotyping 21211785 C15orf27,ETFA,ISL2,SCAPER,TYRO3P chr15 76343551 76361591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf27 chr15 76343551 76361591 Gain and loss Pancreatic cancer SNP array 17952125 C15orf27 chr15 76343551 76361591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf27 chr15 76362635 76378995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf27 chr15 76362635 76378995 Gain and loss Pancreatic cancer SNP array 17952125 C15orf27 chr15 76362635 76378995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf27 chr15 76371048 76371111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf27 chr15 76419744 76427620 Gain and loss Pancreatic cancer SNP array 17952125 C15orf27 chr15 76419750 76427622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C15orf27 chr15 76419750 76427622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C15orf27 chr15 76420340 76420810 Gain and loss Pancreatic cancer SNP array 17952125 C15orf27 chr15 76453654 77103978 LOH Normal High-resolution SNP genotyping 21211785 C15orf27,ETFA,ISL2,SCAPER,TYRO3P chr15 76453830 76453930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf27 chr15 76470816 76515659 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C15orf27,ETFA chr15 76470871 76470945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf27 chr15 76476720 76843824 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 C15orf27,ETFA,ISL2,SCAPER,TYRO3P chr15 76487117 77082950 LOH Normal High-resolution SNP genotyping 21211785 C15orf27,ETFA,ISL2,SCAPER,TYRO3P chr15 76498339 77016608 LOH Normal High-resolution SNP genotyping 21211785 ETFA,ISL2,SCAPER,TYRO3P chr15 76506164 76506219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 76517573 76580853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ETFA,TYRO3P chr15 76517573 76580853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETFA,TYRO3P chr15 76517681 76578522 Gain and loss Pancreatic cancer SNP array 17952125 ETFA,TYRO3P chr1 57652021 57652121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 76532501 77013200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ETFA,ISL2,SCAPER,TYRO3P chr15 76586961 76613067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETFA chr15 76586979 76613067 Gain and loss Pancreatic cancer SNP array 17952125 ETFA chr15 76606208 77061101 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ISL2,SCAPER chr15 76606208 77384303 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ISL2,PSTPIP1,RCN2,SCAPER,TSPAN3 chr15 76617078 76618343 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 57661947 72536187 Substitutions and indels small cell lung cancer array-CGH 20016488 AK4,ALG6,ANGPTL3,ANKRD13C,ATG4C,C1orf141,C1orf87,CACHD1,CTH,CYP2J2,DAB1,DEPDC1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FGGY,FOXD3,GADD45A,GNG12,GNG12-AS1,HHLA3,HOOK1,HSD52,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,L1TD1,LEPR,LEPROT,LINC00466,LOC100131060,LRRC40,LRRC7,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4711,MIR4794,MYSM1,NEGR1,NEGR1-IT1,NFIA,OMA1,PDE4B,PGM1,PIN1P1,PTGER3,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SRSF11,TACSTD2,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr15 76619802 76628615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 76619802 76628615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 76619824 76628586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 76636119 76637758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 76644961 76673493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76644961 76673493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76644961 76673513 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 76672451 76700377 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SCAPER chr15 76672452 76700377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76672452 76700377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76672452 76700692 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 76678001 76817500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 76696567 76729001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCAPER chr15 76697235 76701437 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SCAPER chr15 76703690 76720642 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SCAPER chr15 76703691 76720642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76703691 76720646 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 76740438 76741005 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 76759349 77163257 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 SCAPER chr15 76765213 76827483 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SCAPER chr15 76797075 76797175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCAPER chr15 76817501 76836000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 76817691 76861911 Substitutions and indels small cell lung cancer array-CGH 20016488 SCAPER chr15 76825903 76826003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCAPER chr15 76836001 76860250 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 76838601 76890828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76838601 76890828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76838606 76890830 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 76840539 77080936 Loss or gain Normal 244K array 17666407 SCAPER chr15 76867481 76867557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCAPER chr15 76867501 76879000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 76869387 100228335 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DET1,DNAJA4,DNM1P41,EFTUD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FANCI,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HMG20A,HOMER2,IDH2,IDH3A,IGF1R,IL16,IQGAP1,IREB2,ISG20,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINC00597,LINGO1,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC253044,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC645752,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91450,LOC91948,LRRC28,MAN2A2,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NTRK3,NTRK3-AS1,PDE8A,PEAK1,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,PSMA4,PSTPIP1,RASGRF1,RCCD1,RCN2,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCAPER,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,SYNM,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TSPAN3,TTC23,TTLL13,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 76871319 76871410 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCAPER chr15 76879001 77004500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 76910550 76911241 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 76910675 76911424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76936326 76945256 Copy number loss Normal High-resolution SNP genotyping 21211785 SCAPER chr15 76949520 76954208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCAPER chr15 76952226 76977129 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SCAPER chr15 76952227 76977127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76952227 76977127 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 76952227 76977127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76978238 76978340 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 76978238 76978340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 76989411 77019427 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCAPER chr15 77001147 77024475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 77001147 77024475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 77001163 77029117 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 77004501 77014000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 77013201 77949300 Copy number Normal ReadDepth: A Parallel R Package 21305028 HMG20A,LINC00597,LINGO1,LOC253044,PEAK1,PSTPIP1,RCN2,SCAPER,TSPAN3 chr15 77014001 77071000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 77041340 77169895 Gain or loss Breast cancer - 20668451 SCAPER chr15 77041340 77169895 Gain or loss Cancer - 20668451 SCAPER chr15 77041340 77169895 Gain or loss Lung cancer - 20668451 SCAPER chr15 77041340 77169895 Gain or loss Ovarian cancer - 20668451 SCAPER chr15 77041340 77169895 Gain or loss Pancreas cancer - 20668451 SCAPER chr15 77041340 77169895 Gain or loss Prostate cancer - 20668451 SCAPER chr15 77041341 77169895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 77041341 77169895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 77041541 77170161 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 77058286 77065323 Gain and loss Pancreatic cancer SNP array 17952125 SCAPER chr15 77058286 77065323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAPER chr15 77071001 77085000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 77085001 77168500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr15 77092276 77092494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCAPER chr1 57712092 58034742 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-268K arrays 21546498 DAB1 chr15 77142292 77305824 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PSTPIP1,RCN2,SCAPER chr15 77168501 77175000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCAPER chr1 57722045 57723474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DAB1 chr15 77289185 77289268 Amplification Acute myeloid leukemia BAC aCGH 20962326 PSTPIP1 chr15 77289185 77289268 Gain and loss Pancreatic cancer SNP array 17952125 PSTPIP1 chr15 77289185 77289268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSTPIP1 chr15 77331158 77331240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 77332899 79330524 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSBG1,ADAMTS7,AGPHD1,CHRNA3,CHRNA5,CHRNB4,CIB2,CRABP1,CTSH,DNAJA4,HMG20A,IDH3A,IREB2,LINC00597,LINGO1,LOC253044,LOC645752,LOC646938,LOC91450,MIR5003,MORF4L1,PEAK1,PSMA4,RASGRF1,SH2D7,TBC1D2B,TSPAN3,WDR61 chr15 77338595 77338745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN3 chr15 77352969 77353053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPAN3 chr15 77372682 77374283 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 77390514 77402241 Gain and loss Pancreatic cancer SNP array 17952125 PEAK1 chr15 77390540 77402237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PEAK1 chr15 77390540 77402237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEAK1 chr15 77471590 77471657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEAK1 chr15 77473320 77473420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEAK1 chr15 77482586 77482686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEAK1 chr15 77483756 79330524 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSBG1,ADAMTS7,AGPHD1,CHRNA3,CHRNA5,CHRNB4,CIB2,CRABP1,CTSH,DNAJA4,HMG20A,IDH3A,IREB2,LINC00597,LINGO1,LOC253044,LOC645752,LOC646938,LOC91450,MIR5003,MORF4L1,PEAK1,PSMA4,RASGRF1,SH2D7,TBC1D2B,WDR61 chr15 77511913 77551687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00597,PEAK1 chr15 77511913 77551687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00597,PEAK1 chr15 77511913 77551697 Gain and loss Pancreatic cancer SNP array 17952125 LINC00597,PEAK1 chr15 77514717 77529315 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00597,PEAK1 chr15 77517425 77518425 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 LINC00597,PEAK1 chr15 77574792 77574876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEAK1 chr15 77586404 77586535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEAK1 chr15 77591130 77591224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEAK1 chr15 77591716 77592865 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PEAK1 chr15 77631971 77632093 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PEAK1 chr15 77645833 77646004 Gain and loss Pancreatic cancer SNP array 17952125 PEAK1 chr15 77645953 77646004 Gain and loss Pancreatic cancer SNP array 17952125 PEAK1 chr15 77646552 77646652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEAK1 chr15 77663014 77670740 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PEAK1 chr15 77677001 77681200 Deletion Glioma mate-paired sequence 20126413 PEAK1 chr15 77678899 77679219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PEAK1 chr15 77698651 77698961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PEAK1 chr15 77708673 77708773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEAK1 chr1 57773557 57773657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 77756881 77756964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HMG20A chr15 77764069 77764169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMG20A chr15 77776512 77776612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMG20A chr15 77781659 78490928 LOH Normal High-resolution SNP genotyping 21211785 ACSBG1,CIB2,IDH3A,LINGO1,LOC253044,LOC645752,LOC91450,MIR5003,SH2D7,TBC1D2B chr15 77821162 77821259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 77830130 77830234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 77830732 77831446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 77831090 77831446 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 77836167 77836237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 77892460 77892510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 77896752 77896846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 77896752 77896846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 77922600 77922695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINGO1 chr15 77924375 77976398 Gain and loss Pancreatic cancer SNP array 17952125 LINGO1,LOC253044 chr15 77924375 77976425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINGO1,LOC253044 chr15 77924375 77976425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINGO1,LOC253044 chr15 77944936 77945016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 77949301 78227600 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC645752 chr15 77978240 78003132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 77978328 77987070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 77986939 77988134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 77998856 77998909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 78002168 78004249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 78016101 78016144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 78040290 78050698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 78040290 78050698 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 78040290 78050698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 78069302 78070003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 78069302 78070003 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 78069302 78070003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 78117603 78117703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 78136824 78137081 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 78136824 78137081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 78139076 78217767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC645752 chr15 78139076 78217767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC645752 chr15 78139076 78217776 Gain and loss Pancreatic cancer SNP array 17952125 LOC645752 chr15 78203723 78207004 Gain and loss Pancreatic cancer SNP array 17952125 LOC645752 chr15 78206366 78251710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC645752 chr15 78227601 78505900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSBG1,CIB2,IDH3A,LOC91450,MIR5003,SH2D7,TBC1D2B chr15 78232177 78266343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 78232177 78266343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 78232396 78265737 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 78289086 78324339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TBC1D2B chr15 78300000 102531392 Amplification Embryonal rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ABHD2,ACAN,ACSBG1,ADAMTS17,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A3,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB7,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CERS3,CHD2,CHRNA3,CHRNA5,CHRNB4,CHSY1,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DDX11L9,DET1,DNAJA4,DNM1P41,DNM1P46,EFTUD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FANCI,FES,FLJ42289,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HOMER2,IDH2,IDH3A,IGF1R,IL16,IQGAP1,IREB2,ISG20,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINS,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145820,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91948,LRRC28,LRRK1,LYSMD4,MAN2A2,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NTRK3,NTRK3-AS1,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PDE8A,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,PSMA4,RASGRF1,RCCD1,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SNRPA1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,SYNM,TARSL2,TBC1D2B,TICRR,TM2D3,TM6SF1,TMC3,TMED3,TTC23,TTLL13,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VIMP,VPS33B,WASH3P,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 78300000 102531392 Gain Sudden cardiac death CGH 19188705 ABHD2,ACAN,ACSBG1,ADAMTS17,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A3,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB7,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CERS3,CHD2,CHRNA3,CHRNA5,CHRNB4,CHSY1,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DDX11L9,DET1,DNAJA4,DNM1P41,DNM1P46,EFTUD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FANCI,FES,FLJ42289,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HOMER2,IDH2,IDH3A,IGF1R,IL16,IQGAP1,IREB2,ISG20,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINS,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145820,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91948,LRRC28,LRRK1,LYSMD4,MAN2A2,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NTRK3,NTRK3-AS1,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PDE8A,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,PSMA4,RASGRF1,RCCD1,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SNRPA1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,SYNM,TARSL2,TBC1D2B,TICRR,TM2D3,TM6SF1,TMC3,TMED3,TTC23,TTLL13,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VIMP,VPS33B,WASH3P,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 78300000 102531392 Loss Esophageal adenocarcinoma MLPA 18820669 ABHD2,ACAN,ACSBG1,ADAMTS17,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALDH1A3,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB7,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CERS3,CHD2,CHRNA3,CHRNA5,CHRNB4,CHSY1,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DDX11L9,DET1,DNAJA4,DNM1P41,DNM1P46,EFTUD1,FAH,FAM103A1,FAM108C1,FAM138E,FAM154B,FAM169B,FAM174B,FANCI,FES,FLJ42289,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HOMER2,IDH2,IDH3A,IGF1R,IL16,IQGAP1,IREB2,ISG20,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LINS,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC100507472,LOC145820,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91948,LRRC28,LRRK1,LYSMD4,MAN2A2,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR4714,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NTRK3,NTRK3-AS1,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PDE8A,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,PSMA4,RASGRF1,RCCD1,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SNRPA1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,SYNM,TARSL2,TBC1D2B,TICRR,TM2D3,TM6SF1,TMC3,TMED3,TTC23,TTLL13,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VIMP,VPS33B,WASH3P,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 78300000 81700000 Loss Breast cancer Microarray-based CGH 17133270 ACSBG1,ADAMTS7,AGPHD1,ANKRD34C,ARNT2,BCL2A1,C15orf26,C15orf37,CHRNA3,CHRNA5,CHRNB4,CIB2,CRABP1,CTSH,DNAJA4,FAH,FAM108C1,IDH3A,IL16,IREB2,KIAA1024,KIAA1199,LOC283688,LOC646938,LOC729911,MESDC1,MESDC2,MIR184,MIR4514,MIR5003,MIR549,MORF4L1,MTHFS,PSMA4,RASGRF1,SH2D7,ST20,ST20-MTHFS,STARD5,TBC1D2B,TMC3,TMED3,WDR61,ZFAND6 chr15 78300000 89100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACSBG1,ADAMTS7,ADAMTSL3,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,AP3B2,ARNT2,BCL2A1,BNC1,BTBD1,C15orf26,C15orf37,C15orf40,CHRNA3,CHRNA5,CHRNB4,CIB2,CPEB1,CRABP1,CTSH,DET1,DNAJA4,DNM1P41,EFTUD1,FAH,FAM103A1,FAM108C1,FAM154B,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HOMER2,IDH3A,IL16,IREB2,KIAA1024,KIAA1199,KLHL25,LINC00052,LOC100505679,LOC100506874,LOC283688,LOC283692,LOC283693,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,MESDC1,MESDC2,MEX3B,MIR1276,MIR184,MIR4514,MIR4515,MIR5003,MIR549,MORF4L1,MRPL46,MRPS11,MTHFS,NMB,NTRK3,NTRK3-AS1,PDE8A,PSMA4,RASGRF1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SH2D7,SH3GL3,SLC28A1,ST20,ST20-MTHFS,STARD5,TBC1D2B,TM6SF1,TMC3,TMED3,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR61,WDR73,WHAMM,ZFAND6,ZNF592,ZSCAN2 chr15 78300000 89100000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ACSBG1,ADAMTS7,ADAMTSL3,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,AP3B2,ARNT2,BCL2A1,BNC1,BTBD1,C15orf26,C15orf37,C15orf40,CHRNA3,CHRNA5,CHRNB4,CIB2,CPEB1,CRABP1,CTSH,DET1,DNAJA4,DNM1P41,EFTUD1,FAH,FAM103A1,FAM108C1,FAM154B,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HOMER2,IDH3A,IL16,IREB2,KIAA1024,KIAA1199,KLHL25,LINC00052,LOC100505679,LOC100506874,LOC283688,LOC283692,LOC283693,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,MESDC1,MESDC2,MEX3B,MIR1276,MIR184,MIR4514,MIR4515,MIR5003,MIR549,MORF4L1,MRPL46,MRPS11,MTHFS,NMB,NTRK3,NTRK3-AS1,PDE8A,PSMA4,RASGRF1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SH2D7,SH3GL3,SLC28A1,ST20,ST20-MTHFS,STARD5,TBC1D2B,TM6SF1,TMC3,TMED3,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR61,WDR73,WHAMM,ZFAND6,ZNF592,ZSCAN2 chr15 78300000 98500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DET1,DNAJA4,DNM1P41,EFTUD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM174B,FANCI,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HOMER2,IDH2,IDH3A,IL16,IQGAP1,IREB2,ISG20,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91948,MAN2A2,MCTP2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NTRK3,NTRK3-AS1,PDE8A,PEX11A,PLIN1,POLG,PRC1,PSMA4,RASGRF1,RCCD1,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TTLL13,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 78300000 98500000 Loss Myofibroblastic sarcoma CGH 19369631 ABHD2,ACAN,ACSBG1,ADAMTS7,ADAMTSL3,AEN,AGBL1,AGPHD1,AGSK1,AKAP13,ALPK3,ANKRD34C,ANPEP,AP3B2,AP3S2,ARNT2,ASB9P1,BCL2A1,BLM,BNC1,BTBD1,C15orf26,C15orf32,C15orf37,C15orf38,C15orf38-AP3S2,C15orf40,CHD2,CHRNA3,CHRNA5,CHRNB4,CIB1,CIB2,CPEB1,CRABP1,CRTC3,CTSH,DET1,DNAJA4,DNM1P41,EFTUD1,FAH,FAM103A1,FAM108C1,FAM154B,FAM174B,FANCI,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HOMER2,IDH2,IDH3A,IL16,IQGAP1,IREB2,ISG20,KIAA1024,KIAA1199,KIF7,KLHL25,LINC00052,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283688,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC646938,LOC648809,LOC727849,LOC727915,LOC729911,LOC91948,MAN2A2,MCTP2,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR184,MIR3175,MIR3529,MIR4514,MIR4515,MIR5003,MIR5094,MIR549,MIR7-2,MIR9-3,MORF4L1,MRPL46,MRPS11,MTHFS,NGRN,NMB,NR2F2,NTRK3,NTRK3-AS1,PDE8A,PEX11A,PLIN1,POLG,PRC1,PSMA4,RASGRF1,RCCD1,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SEMA4B,SH2D7,SH3GL3,SLC28A1,SLCO3A1,SPATA8,ST20,ST20-MTHFS,ST8SIA2,STARD5,SV2B,TBC1D2B,TICRR,TM6SF1,TMC3,TMED3,TTLL13,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR61,WDR73,WDR93,WHAMM,ZFAND6,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 78310026 78313665 Loss Normal Birdsuite, version 1.5.2 22087296 TBC1D2B chr15 78366361 78398721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CIB2,MIR5003,SH2D7,TBC1D2B chr15 78367052 78367152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D2B chr15 78406499 78406543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CIB2 chr1 57844107 57844466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAB1 chr15 78453171 78454171 Loss Renal cell carcinoma References 21215367 IDH3A chr15 78454199 78455199 Gain Renal cell carcinoma References 21215367 IDH3A chr15 78483741 78677324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSBG1,CRABP1,DNAJA4,WDR61 chr15 78483741 78677324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSBG1,CRABP1,DNAJA4,WDR61 chr15 78483798 78677324 Gain and loss Pancreatic cancer SNP array 17952125 ACSBG1,CRABP1,DNAJA4,WDR61 chr15 78488737 78488981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACSBG1 chr15 78504275 78504375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACSBG1 chr15 78505901 79062500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSBG1,ADAMTS7,AGPHD1,CHRNA3,CHRNA5,CHRNB4,CRABP1,DNAJA4,IREB2,LOC646938,PSMA4,WDR61 chr15 78509617 79586705 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACSBG1,ADAMTS7,AGPHD1,ANKRD34C,CHRNA3,CHRNA5,CHRNB4,CRABP1,CTSH,DNAJA4,IREB2,LOC646938,LOC729911,MIR184,MORF4L1,PSMA4,RASGRF1,WDR61 chr15 78515710 78524289 Gain and loss Pancreatic cancer SNP array 17952125 ACSBG1 chr1 57857489 63960843 Loss Developmental delay affymetrix genechip 500K/SNP 6.4 array 21147756 ALG6,ANGPTL3,ATG4C,C1orf87,CYP2J2,DAB1,DOCK7,FGGY,FOXD3,HOOK1,HSD52,INADL,ITGB3BP,JUN,KANK4,L1TD1,LINC00466,LOC100131060,MIR4711,MYSM1,NFIA,OMA1,TACSTD2,TM2D1,USP1 chr15 78588068 78588168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR61 chr15 78592189 78592339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 78743168 78743259 Gain and loss Pancreatic cancer SNP array 17952125 IREB2 chr15 78743168 78743269 Gain and loss Pancreatic cancer SNP array 17952125 IREB2 chr15 78743168 78743274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IREB2 chr15 78774707 78835013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGPHD1,IREB2,PSMA4 chr15 78774707 78835013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGPHD1,IREB2,PSMA4 chr15 78774737 78835015 Gain and loss Pancreatic cancer SNP array 17952125 AGPHD1,IREB2,PSMA4 chr15 78858767 79031054 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA3,CHRNA5,CHRNB4 chr15 78858767 79031172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRNA3,CHRNA5,CHRNB4 chr15 78858767 79031172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA3,CHRNA5,CHRNB4 chr15 78859001 78860500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHRNA5 chr15 78875379 81258381 LOH Normal High-resolution SNP genotyping 21211785 ADAMTS7,ANKRD34C,ARNT2,BCL2A1,C15orf37,CHRNA3,CHRNA5,CHRNB4,CTSH,FAH,FAM108C1,KIAA1024,KIAA1199,LOC283688,LOC646938,LOC729911,MIR184,MIR549,MORF4L1,MTHFS,RASGRF1,ST20,ST20-MTHFS,TMED3,ZFAND6 chr1 57890987 57892971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DAB1 chr15 78918323 78918415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHRNB4 chr15 78921374 78921469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNB4 chr15 78936523 78936673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 78936536 78936657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 78961715 78962715 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 78985015 78985115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79026725 79069224 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS7,LOC646938 chr15 79055150 79069260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS7 chr15 79055150 79069260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS7 chr15 79062501 83110500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTS7,AGSK1,ANKRD34C,ARNT2,BCL2A1,C15orf26,C15orf37,CTSH,EFTUD1,FAH,FAM108C1,FAM154B,GOLGA6L10,GOLGA6L9,IL16,KIAA1024,KIAA1199,LOC283688,LOC390660,LOC440297,LOC727849,LOC729911,MESDC1,MESDC2,MEX3B,MIR184,MIR4514,MIR549,MORF4L1,MTHFS,RASGRF1,RPS17,RPS17L,ST20,ST20-MTHFS,STARD5,TMC3,TMED3,UBE2Q2P2,UBE2Q2P3,ZFAND6 chr15 79070446 79115239 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADAMTS7 chr15 79078615 79079615 Gain Renal cell carcinoma References 21215367 ADAMTS7 chr15 79080941 79081241 Loss Renal cell carcinoma References 21215367 ADAMTS7 chr15 79081028 79083400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS7 chr15 79081028 79083400 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS7 chr15 79081028 79083400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS7 chr15 79085430 79086430 Gain Renal cell carcinoma References 21215367 ADAMTS7 chr15 79091964 79092964 Loss Renal cell carcinoma References 21215367 ADAMTS7 chr1 57910976 57911076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 79138085 79138520 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr15 79148504 79148597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79197031 79197736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 79213699 79228570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTSH chr15 79213699 79228570 Gain and loss Pancreatic cancer SNP array 17952125 CTSH chr15 79213699 79228570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTSH chr15 79214227 79214327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTSH chr15 79262148 79392156 Gain and loss Pancreatic cancer SNP array 17952125 RASGRF1 chr15 79275381 79276381 Gain Renal cell carcinoma References 21215367 RASGRF1 chr15 79276097 79277097 Loss Renal cell carcinoma References 21215367 RASGRF1 chr15 79276203 79276503 Loss Renal cell carcinoma References 21215367 RASGRF1 chr15 79276272 79277272 Loss Renal cell carcinoma References 21215367 RASGRF1 chr15 79276274 79393454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASGRF1 chr15 79276274 79393454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASGRF1 chr1 57930426 57930526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 79313246 79313320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASGRF1 chr15 79316338 79317338 Loss Renal cell carcinoma References 21215367 RASGRF1 chr15 79317019 79318019 Gain Renal cell carcinoma References 21215367 RASGRF1 chr15 79317047 79318047 Gain Renal cell carcinoma References 21215367 RASGRF1 chr1 57935200 57935284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 79392069 79403579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 79392069 79403579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 79392073 79403579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 79411746 79453510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 79411746 79453510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 79411815 79453552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 79414930 79415030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79468726 79468806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79500000 83000000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 AGSK1,ANKRD34C,ARNT2,BCL2A1,C15orf26,C15orf37,EFTUD1,FAH,FAM108C1,FAM154B,GOLGA6L10,GOLGA6L9,IL16,KIAA1024,KIAA1199,LOC283688,LOC390660,LOC440297,LOC727849,LOC729911,MESDC1,MESDC2,MEX3B,MIR184,MIR4514,MIR549,MTHFS,RPS17,RPS17L,ST20,ST20-MTHFS,STARD5,TMC3,TMED3,UBE2Q2P2,UBE2Q2P3,ZFAND6 chr15 79500000 83000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGSK1,ANKRD34C,ARNT2,BCL2A1,C15orf26,C15orf37,EFTUD1,FAH,FAM108C1,FAM154B,GOLGA6L10,GOLGA6L9,IL16,KIAA1024,KIAA1199,LOC283688,LOC390660,LOC440297,LOC727849,LOC729911,MESDC1,MESDC2,MEX3B,MIR184,MIR4514,MIR549,MTHFS,RPS17,RPS17L,ST20,ST20-MTHFS,STARD5,TMC3,TMED3,UBE2Q2P2,UBE2Q2P3,ZFAND6 chr15 79500000 83000000 Deletion Congenital diaphragmatic hernia BAC-array CGH 21341218 AGSK1,ANKRD34C,ARNT2,BCL2A1,C15orf26,C15orf37,EFTUD1,FAH,FAM108C1,FAM154B,GOLGA6L10,GOLGA6L9,IL16,KIAA1024,KIAA1199,LOC283688,LOC390660,LOC440297,LOC727849,LOC729911,MESDC1,MESDC2,MEX3B,MIR184,MIR4514,MIR549,MTHFS,RPS17,RPS17L,ST20,ST20-MTHFS,STARD5,TMC3,TMED3,UBE2Q2P2,UBE2Q2P3,ZFAND6 chr15 79500000 83000000 Loss Adenocarcinoma array-CGH 19607727 AGSK1,ANKRD34C,ARNT2,BCL2A1,C15orf26,C15orf37,EFTUD1,FAH,FAM108C1,FAM154B,GOLGA6L10,GOLGA6L9,IL16,KIAA1024,KIAA1199,LOC283688,LOC390660,LOC440297,LOC727849,LOC729911,MESDC1,MESDC2,MEX3B,MIR184,MIR4514,MIR549,MTHFS,RPS17,RPS17L,ST20,ST20-MTHFS,STARD5,TMC3,TMED3,UBE2Q2P2,UBE2Q2P3,ZFAND6 chr15 79500000 83000000 Loss Squamous cell cancer array-CGH 19607727 AGSK1,ANKRD34C,ARNT2,BCL2A1,C15orf26,C15orf37,EFTUD1,FAH,FAM108C1,FAM154B,GOLGA6L10,GOLGA6L9,IL16,KIAA1024,KIAA1199,LOC283688,LOC390660,LOC440297,LOC727849,LOC729911,MESDC1,MESDC2,MEX3B,MIR184,MIR4514,MIR549,MTHFS,RPS17,RPS17L,ST20,ST20-MTHFS,STARD5,TMC3,TMED3,UBE2Q2P2,UBE2Q2P3,ZFAND6 chr15 79500000 83000000 Microdeletions Congenital diaphragmatic hernia CGH 20921022 AGSK1,ANKRD34C,ARNT2,BCL2A1,C15orf26,C15orf37,EFTUD1,FAH,FAM108C1,FAM154B,GOLGA6L10,GOLGA6L9,IL16,KIAA1024,KIAA1199,LOC283688,LOC390660,LOC440297,LOC727849,LOC729911,MESDC1,MESDC2,MEX3B,MIR184,MIR4514,MIR549,MTHFS,RPS17,RPS17L,ST20,ST20-MTHFS,STARD5,TMC3,TMED3,UBE2Q2P2,UBE2Q2P3,ZFAND6 chr15 79536575 79536675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC729911 chr1 57958149 57958249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 79588936 79627530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD34C,TMED3 chr15 79618924 79619024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79631747 79633235 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 79652702 79652781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79672790 79672858 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 79680000 80570000 Loss Breast cancer aCGH 21509527 BCL2A1,C15orf37,FAH,KIAA1024,LOC283688,MTHFS,ST20,ST20-MTHFS,ZFAND6 chr15 79700000 87500000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ADAMTSL3,AGBL1,AGSK1,AKAP13,ALPK3,AP3B2,ARNT2,BCL2A1,BNC1,BTBD1,C15orf26,C15orf37,C15orf40,CPEB1,DNM1P41,EFTUD1,FAH,FAM103A1,FAM108C1,FAM154B,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HOMER2,IL16,KIAA1024,KIAA1199,KLHL25,LOC100505679,LOC100506874,LOC283688,LOC283692,LOC283693,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC648809,LOC727849,LOC727915,MESDC1,MESDC2,MEX3B,MIR1276,MIR4514,MIR4515,MIR549,MTHFS,NMB,PDE8A,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SH3GL3,SLC28A1,ST20,ST20-MTHFS,STARD5,TM6SF1,TMC3,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR73,WHAMM,ZFAND6,ZNF592,ZSCAN2 chr15 79711741 79711822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79724359 79724426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79728575 80011124 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KIAA1024 chr1 57974885 58681838 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DAB1 chr1 57975485 57975585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 79763098 79876253 Duplication Normal Affymetrix 6.0 microarrays 20967226 KIAA1024 chr15 79795880 79796115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79795896 79795990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 5798518 5798606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 79856811 79856918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 57989967 57990049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 79935837 79935937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79968258 79968358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 79996869 79996951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 80056532 80089492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 58005748 58005845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 80065241 80066241 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 80070048 80070098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 80084016 80085016 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 80089165 80090165 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 80098996 80099095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58011691 58665268 LOH Normal High-resolution SNP genotyping 21211785 DAB1 chr15 80121183 80125416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80121183 80125416 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 80121183 80125416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80122501 80125000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 80123691 80123772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80125022 80126022 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 80125955 80126055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58015830 58015930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 80169965 80170292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MTHFS,ST20-MTHFS chr15 80185211 80186211 Gain Renal cell carcinoma References 21215367 MTHFS,ST20-MTHFS chr15 80187947 80188947 Loss Renal cell carcinoma References 21215367 MTHFS,ST20-MTHFS chr15 80209616 80342159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2A1,C15orf37,ST20,ST20-MTHFS chr15 80209616 80342159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2A1,C15orf37,ST20,ST20-MTHFS chr15 80209626 80342089 Gain and loss Pancreatic cancer SNP array 17952125 BCL2A1,C15orf37,ST20,ST20-MTHFS chr15 80216099 80216193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf37 chr15 80253620 80253781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2A1 chr15 80253621 80253780 Gain and loss Pancreatic cancer SNP array 17952125 BCL2A1 chr15 80342195 80364317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFAND6 chr15 80342195 80364317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFAND6 chr15 80342207 80364317 Gain and loss Pancreatic cancer SNP array 17952125 ZFAND6 chr1 5803561 5803644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 80373736 80378735 Loss Normal TaqMan assays 20972442 ZFAND6 chr15 80377973 80380567 Gain and loss Pancreatic cancer SNP array 17952125 ZFAND6 chr15 80380751 80445000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZFAND6 chr15 80388736 80393735 Loss Normal TaqMan assays 20972442 ZFAND6 chr15 80409489 80428661 Gain and loss Pancreatic cancer SNP array 17952125 ZFAND6 chr15 80415000 80446320 Duplication Non-syndromic sensorineural hearing loss References 19212409 FAH,ZFAND6 chr15 80415736 80420735 Loss Normal TaqMan assays 20972442 ZFAND6 chr15 80423526 80424708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFAND6 chr15 80451465 80838926 Loss Normal 244K array 17666407 ARNT2,FAH,LOC283688 chr15 80451514 80535839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAH chr15 80451569 80452147 Gain and loss Pancreatic cancer SNP array 17952125 FAH chr1 58047757 58079943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAB1 chr15 80509239 80518615 Amplification or deletion Normal BAC aCGH 22315515 NOT_FOUND chr15 80509240 80518615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80512824 80517614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 80539371 80776796 Gain aortic dissecting aneurysms Array-CGH 22263138 ARNT2,LOC283688 chr15 80539371 80776796 Gain Stenocardia MACArray Karyo 70K BAC-chips 21860640 ARNT2,LOC283688 chr15 80539371 80776796 Gain Vasospasm MACArray Karyo 70K BAC-chips 21860640 ARNT2,LOC283688 chr15 80541707 80543029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 80541707 80543029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80543341 80930569 Gain and loss Pancreatic cancer SNP array 17952125 ARNT2,LOC283688 chr15 80543906 80556454 Gain and loss Pancreatic cancer SNP array 17952125 LOC283688 chr15 80543906 80556454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283688 chr15 80551134 80585378 Gain and loss Pancreatic cancer SNP array 17952125 LOC283688 chr15 80551134 80585378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283688 chr15 80556319 80556402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283688 chr15 80557282 80557450 Gain and loss Pancreatic cancer SNP array 17952125 LOC283688 chr15 80557282 80557450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283688 chr1 58058995 58075722 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAB1 chr15 80608215 81006263 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 ARNT2,FAM108C1,LOC283688 chr15 80608216 80611920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283688 chr15 80608222 80612005 Gain and loss Pancreatic cancer SNP array 17952125 LOC283688 chr15 80676701 80772199 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARNT2 chr15 80676701 80887174 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARNT2 chr15 80676701 81024206 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARNT2,FAM108C1 chr15 80676701 81107580 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ARNT2,FAM108C1,KIAA1199 chr15 80676701 81107580 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARNT2,FAM108C1,KIAA1199 chr15 80676701 81107580 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARNT2,FAM108C1,KIAA1199 chr15 80685303 80687896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 80686227 80686279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 80695701 80701700 Loss Normal TaqMan assays 20972442 ARNT2 chr15 80714471 80721131 Gain and loss Pancreatic cancer SNP array 17952125 ARNT2 chr1 58071854 58071976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr1 58071907 58072007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 80722701 80727700 Loss Normal TaqMan assays 20972442 ARNT2 chr15 80730419 81877088 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1065K arrays 21546498 ARNT2,C15orf26,FAM108C1,IL16,KIAA1199,MESDC1,MESDC2,MIR4514,MIR549,STARD5,TMC3 chr15 80737828 80737928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARNT2 chr15 80738477 81024206 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARNT2,FAM108C1 chr15 80741877 80772852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARNT2 chr15 80741877 80772852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT2 chr15 80746090 80746146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARNT2 chr15 80766538 80766706 Gain and loss Pancreatic cancer SNP array 17952125 ARNT2 chr15 80766538 80766706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT2 chr15 80767534 80780079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT2 chr15 80767586 80767669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT2 chr15 80767738 100147041 Duplication Intellectual disability Array CGH 22102821 ABHD2,ACAN,ADAMTSL3,AEN,AGBL1,AGSK1,AKAP13,ALPK3,ANPEP,AP3B2,AP3S2,ARNT2,ARRDC4,ASB9P1,BLM,BNC1,BTBD1,C15orf26,C15orf32,C15orf38,C15orf38-AP3S2,C15orf40,CHD2,CIB1,CPEB1,CRTC3,DET1,DNM1P41,EFTUD1,FAM103A1,FAM108C1,FAM154B,FAM169B,FAM174B,FANCI,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HOMER2,IDH2,IGF1R,IL16,IQGAP1,ISG20,KIAA1199,KIF7,KLHL25,LINC00052,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC400456,LOC440297,LOC440300,LOC642423,LOC648809,LOC727849,LOC727915,LOC91948,LRRC28,MAN2A2,MCTP2,MEF2A,MESDC1,MESDC2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR1469,MIR3175,MIR3529,MIR4514,MIR4515,MIR4714,MIR5094,MIR549,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NMB,NR2F2,NTRK3,NTRK3-AS1,PDE8A,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SEMA4B,SH3GL3,SLC28A1,SLCO3A1,SPATA8,ST8SIA2,STARD5,SV2B,SYNM,TICRR,TM6SF1,TMC3,TTC23,TTLL13,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR73,WDR93,WHAMM,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 80780002 80780644 Gain and loss Pancreatic cancer SNP array 17952125 ARNT2 chr15 80780956 80782278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT2 chr15 80783381 80785274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARNT2 chr15 80820827 80881396 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ARNT2 chr15 80838110 80838688 Gain and loss Pancreatic cancer SNP array 17952125 ARNT2 chr15 80855766 80855847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARNT2 chr15 80876564 80876664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARNT2 chr15 80880475 81001553 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARNT2,FAM108C1 chr15 80895765 80905140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80895765 80905140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80899349 80904139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 80925296 80927189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80928293 80929615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80930492 80943038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80937720 80979956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80937720 80979956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80942903 80942986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80943866 80944034 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 80943866 80944034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 80966724 81606245 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C15orf26,FAM108C1,IL16,KIAA1199,MESDC1,MESDC2,MIR4514,MIR549,STARD5 chr15 80985634 80992216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM108C1 chr15 80985698 80992216 Gain and loss Pancreatic cancer SNP array 17952125 FAM108C1 chr15 80987741 80987789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM108C1 chr15 81002559 81006263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM108C1 chr15 81002559 81006263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM108C1 chr15 81002565 81006348 Gain and loss Pancreatic cancer SNP array 17952125 FAM108C1 chr15 81009005 81113783 Amplification or deletion Normal BAC aCGH 22315515 FAM108C1,KIAA1199 chr15 81009009 81112141 Gain and loss Pancreatic cancer SNP array 17952125 FAM108C1,KIAA1199 chr15 81009009 81113783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM108C1,KIAA1199 chr15 81009009 81113783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM108C1,KIAA1199 chr15 81011700 83540700 Deletion renal disease Array CGH, FISH 17924346 AGSK1,AP3B2,C15orf26,CPEB1,EFTUD1,FAM108C1,FAM154B,FSD2,GOLGA6L10,GOLGA6L9,HOMER2,IL16,KIAA1199,LOC283692,LOC283693,LOC338963,LOC390660,LOC440297,LOC727849,MESDC1,MESDC2,MEX3B,MIR4514,MIR549,RPS17,RPS17L,SCARNA15,STARD5,TMC3,UBE2Q2P2,UBE2Q2P3,WHAMM chr15 81071781 81106912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA1199 chr15 81072326 81072636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1199 chr15 81094048 81254845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1199,MIR549 chr15 81097000 81097100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1199 chr15 81111138 81111238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1199 chr15 81111888 81114643 Gain Normal 244K array 17666407 KIAA1199 chr15 81123993 81294714 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 KIAA1199,MESDC1,MESDC2,MIR4514,MIR549 chr15 81125089 81175689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1199,MIR549 chr15 81125089 81175689 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1199,MIR549 chr15 81125089 81175689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1199,MIR549 chr1 58115800 58116123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DAB1 chr15 81191706 81368906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1199,MESDC1,MESDC2,MIR4514 chr15 81192341 81192959 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1199 chr15 81199750 81433258 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C15orf26,KIAA1199,MESDC1,MESDC2,MIR4514 chr15 81205198 81433258 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C15orf26,KIAA1199,MESDC1,MESDC2,MIR4514 chr15 81221175 81253127 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1199 chr15 81221751 81221877 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1199 chr15 81221751 81221877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1199 chr15 81225078 81271860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1199,MESDC2 chr15 81275027 81300667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MESDC1,MESDC2,MIR4514 chr15 81275027 81300667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MESDC1,MESDC2,MIR4514 chr15 81275434 81300665 Gain and loss Pancreatic cancer SNP array 17952125 MESDC1,MESDC2,MIR4514 chr15 81291096 81291191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 5813001 5861000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 81314789 81412477 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 81314792 81412477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 81314792 81412481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81314792 81412481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81343492 81356434 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 81346126 81349545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 81392586 81392811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 81445125 81445514 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 81445975 81450795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81445975 81450795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81445998 81450427 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 81445998 81450427 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr15 81445998 81450805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 81464007 81464101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 81464396 81471282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 81464398 81471362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81464398 81471362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81476184 81527110 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 IL16 chr15 81476189 81526990 Gain and loss Pancreatic cancer SNP array 17952125 IL16 chr15 81476189 81527110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL16 chr15 81476189 81527110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL16 chr15 81514688 81514733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL16 chr15 81555269 81555331 Gain and loss Pancreatic cancer SNP array 17952125 IL16 chr15 81564878 81565206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IL16 chr15 81567327 81597114 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 IL16 chr15 81567328 81597114 Gain and loss Pancreatic cancer SNP array 17952125 IL16 chr15 81567403 81596769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL16 chr15 81567403 81596769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL16 chr15 81586551 81586551 Copy number Prostate cancer Illumina GA II sequencer 21307934 IL16 chr15 81597819 81667325 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 IL16,STARD5,TMC3 chr15 81597934 81667774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL16,STARD5,TMC3 chr15 81597934 81667774 Gain and loss Pancreatic cancer SNP array 17952125 IL16,STARD5,TMC3 chr15 81597934 81667774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL16,STARD5,TMC3 chr15 81608911 81609011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STARD5 chr15 81700000 85200000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADAMTSL3,AGSK1,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,DNM1P41,EFTUD1,FAM103A1,FAM154B,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HOMER2,LOC100505679,LOC100506874,LOC283692,LOC283693,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC648809,LOC727849,MEX3B,MIR4515,NMB,RPS17,RPS17L,SCAND2,SCARNA15,SH3GL3,TM6SF1,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR73,WHAMM,ZSCAN2 chr15 81700000 85200000 Loss Mental retardation Array CGH 17847001 ADAMTSL3,AGSK1,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,DNM1P41,EFTUD1,FAM103A1,FAM154B,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HOMER2,LOC100505679,LOC100506874,LOC283692,LOC283693,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC648809,LOC727849,MEX3B,MIR4515,NMB,RPS17,RPS17L,SCAND2,SCARNA15,SH3GL3,TM6SF1,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR73,WHAMM,ZSCAN2 chr15 81700000 94300000 Loss Breast cancer Microarray-based CGH 17133270 ABHD2,ACAN,ADAMTSL3,AEN,AGBL1,AGSK1,AKAP13,ALPK3,ANPEP,AP3B2,AP3S2,ASB9P1,BLM,BNC1,BTBD1,C15orf32,C15orf38,C15orf38-AP3S2,C15orf40,CHD2,CIB1,CPEB1,CRTC3,DET1,DNM1P41,EFTUD1,FAM103A1,FAM154B,FAM174B,FANCI,FES,FSD2,FURIN,GABARAPL3,GDPGP1,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDDC3,HDGFRP3,HOMER2,IDH2,IQGAP1,ISG20,KIF7,KLHL25,LINC00052,LOC100144604,LOC100505679,LOC100506874,LOC100507118,LOC100507217,LOC254559,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC648809,LOC727849,LOC727915,MAN2A2,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR3175,MIR3529,MIR4515,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NMB,NTRK3,NTRK3-AS1,PDE8A,PEX11A,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SEMA4B,SH3GL3,SLC28A1,SLCO3A1,ST8SIA2,SV2B,TICRR,TM6SF1,TTLL13,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,UNC45A,VPS33B,WDR73,WDR93,WHAMM,ZNF592,ZNF710,ZNF774,ZSCAN2 chr15 81715659 81744472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81715659 81744472 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 81715659 81744472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81862180 81863275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 81865987 84066711 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AGSK1,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,EFTUD1,FAM103A1,FAM154B,FSD2,GOLGA6L10,GOLGA6L9,HDGFRP3,HOMER2,LOC283692,LOC283693,LOC338963,LOC390660,LOC440297,LOC727849,MEX3B,MIR4515,RPS17,RPS17L,SCARNA15,TM6SF1,UBE2Q2P2,UBE2Q2P3,WHAMM chr15 81877088 90356725 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1066K arrays 21546498 ABHD2,ACAN,ADAMTSL3,AEN,AGBL1,AGSK1,AKAP13,ALPK3,ANPEP,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,DET1,DNM1P41,EFTUD1,FAM103A1,FAM154B,FANCI,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HAPLN3,HDGFRP3,HOMER2,ISG20,KIF7,KLHL25,LINC00052,LOC100505679,LOC100506874,LOC254559,LOC283692,LOC283693,LOC283761,LOC338963,LOC388152,LOC390660,LOC440297,LOC440300,LOC642423,LOC648809,LOC727849,LOC727915,MESP1,MESP2,MEX3B,MFGE8,MIR1179,MIR1276,MIR3529,MIR4515,MIR7-2,MIR9-3,MRPL46,MRPS11,NMB,NTRK3,NTRK3-AS1,PDE8A,PEX11A,PLIN1,POLG,RHCG,RLBP1,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SH3GL3,SLC28A1,TICRR,TM6SF1,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR73,WDR93,WHAMM,ZNF592,ZSCAN2 chr15 81882404 81882484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 81891961 84089456 LOH Normal High-resolution SNP genotyping 21211785 AGSK1,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,EFTUD1,FAM103A1,FAM154B,FSD2,GOLGA6L10,GOLGA6L9,HDGFRP3,HOMER2,LOC283692,LOC283693,LOC338963,LOC390660,LOC440297,LOC727849,MEX3B,MIR4515,RPS17,RPS17L,SCARNA15,TM6SF1,UBE2Q2P2,UBE2Q2P3,WHAMM chr15 81891961 84146487 LOH Normal High-resolution SNP genotyping 21211785 AGSK1,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,EFTUD1,FAM103A1,FAM154B,FSD2,GOLGA6L10,GOLGA6L9,HDGFRP3,HOMER2,LOC283692,LOC283693,LOC338963,LOC390660,LOC440297,LOC727849,MEX3B,MIR4515,RPS17,RPS17L,SCARNA15,SH3GL3,TM6SF1,UBE2Q2P2,UBE2Q2P3,WHAMM chr15 81895947 84146487 LOH Normal High-resolution SNP genotyping 21211785 AGSK1,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,EFTUD1,FAM103A1,FAM154B,FSD2,GOLGA6L10,GOLGA6L9,HDGFRP3,HOMER2,LOC283692,LOC283693,LOC338963,LOC390660,LOC440297,LOC727849,MEX3B,MIR4515,RPS17,RPS17L,SCARNA15,SH3GL3,TM6SF1,UBE2Q2P2,UBE2Q2P3,WHAMM chr15 81907143 82078495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 81907287 82078495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81907287 82078495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 81943266 82520393 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EFTUD1,MEX3B chr15 81970000 83230000 Loss Breast cancer aCGH 21509527 AGSK1,CPEB1,EFTUD1,FAM154B,GOLGA6L10,GOLGA6L9,LOC390660,LOC440297,LOC727849,MEX3B,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 82002172 82046860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 82004960 82520393 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EFTUD1,MEX3B chr15 82035664 82035809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 82050526 82050618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 82071624 82071832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 82075942 82076014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82086731 82086831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 82092120 82167576 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 82105042 82105107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 82113841 82499597 Gain or loss Breast cancer - 20668451 EFTUD1,MEX3B chr15 82113841 82499597 Gain or loss Cancer - 20668451 EFTUD1,MEX3B chr15 82113841 82499597 Gain or loss Lung cancer - 20668451 EFTUD1,MEX3B chr15 82113841 82499597 Gain or loss Ovarian cancer - 20668451 EFTUD1,MEX3B chr15 82113841 82499597 Gain or loss Pancreas cancer - 20668451 EFTUD1,MEX3B chr15 82113841 82499597 Gain or loss Prostate cancer - 20668451 EFTUD1,MEX3B chr15 82113842 82499595 Gain and loss Pancreatic cancer SNP array 17952125 EFTUD1,MEX3B chr15 82113842 82499598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFTUD1,MEX3B chr15 82113842 82499598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFTUD1,MEX3B chr15 82177183 82177276 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 82177183 82177289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82254302 82254396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 82284619 82284705 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 82284619 82284724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82284619 82284752 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 82330401 82336700 Deletion Glioma mate-paired sequence 20126413 MEX3B chr15 82331049 82334554 Copy number Normal Birdsuite, version 1.5.2 22087296 MEX3B chr15 82331742 82334554 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MEX3B chr15 82331742 82334554 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MEX3B chr15 82332196 82334814 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MEX3B chr15 82332518 82334852 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MEX3B chr1 58233826 58234173 Gain and loss Pancreatic cancer SNP array 17952125 DAB1 chr15 82397796 82397982 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 82415353 83908020 LOH Normal High-resolution SNP genotyping 21211785 AGSK1,AP3B2,BTBD1,C15orf40,CPEB1,EFTUD1,FAM103A1,FAM154B,FSD2,GOLGA6L10,GOLGA6L9,HDGFRP3,HOMER2,LOC283692,LOC283693,LOC338963,LOC390660,LOC440297,LOC727849,MIR4515,RPS17,RPS17L,SCARNA15,TM6SF1,UBE2Q2P2,UBE2Q2P3,WHAMM chr15 82448989 82449101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFTUD1 chr15 82463359 82463459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFTUD1 chr15 82506626 82688763 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EFTUD1,FAM154B,GOLGA6L10,LOC390660,UBE2Q2P2,UBE2Q2P3 chr15 82506626 82870925 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGSK1,EFTUD1,FAM154B,GOLGA6L10,GOLGA6L9,LOC390660,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 82506626 82870925 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGSK1,EFTUD1,FAM154B,GOLGA6L10,GOLGA6L9,LOC390660,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 82512870 82539835 Gain and loss Pancreatic cancer SNP array 17952125 EFTUD1 chr15 82539653 82540264 Gain Normal 244K array 17666407 EFTUD1 chr15 82540911 82564525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFTUD1,FAM154B chr15 82586601 82748236 Duplication Normal Affymetrix 6.0 microarrays 20967226 GOLGA6L10,GOLGA6L9,LOC390660,UBE2Q2P2,UBE2Q2P3 chr15 82604519 82838909 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AGSK1,GOLGA6L10,GOLGA6L9,LOC390660,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 82616277 82743638 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GOLGA6L10,GOLGA6L9,LOC390660,UBE2Q2P2,UBE2Q2P3 chr15 82616289 82838884 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AGSK1,GOLGA6L10,GOLGA6L9,LOC390660,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 82618970 82889733 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 AGSK1,GOLGA6L10,GOLGA6L9,LOC390660,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 82648782 82736452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GOLGA6L9,UBE2Q2P2,UBE2Q2P3 chr15 82649501 82708000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UBE2Q2P2,UBE2Q2P3 chr15 82651270 82651912 Gain and loss Pancreatic cancer SNP array 17952125 UBE2Q2P2,UBE2Q2P3 chr15 82652350 82736535 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GOLGA6L9,UBE2Q2P2,UBE2Q2P3 chr15 82659068 82689881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2P2,UBE2Q2P3 chr15 82659068 82689892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2P2,UBE2Q2P3 chr15 82659068 82689894 Gain and loss Pancreatic cancer SNP array 17952125 UBE2Q2P2,UBE2Q2P3 chr15 82664272 82664355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2P2,UBE2Q2P3 chr15 82665235 82665406 Gain and loss Pancreatic cancer SNP array 17952125 UBE2Q2P2,UBE2Q2P3 chr15 82665235 82665406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2P2,UBE2Q2P3 chr15 82695531 82700382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2Q2P2,UBE2Q2P3 chr15 82695591 82700382 Gain and loss Pancreatic cancer SNP array 17952125 UBE2Q2P2,UBE2Q2P3 chr15 82722673 82870925 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGSK1,GOLGA6L9,LOC440297,LOC727849,RPS17,RPS17L chr15 82722673 82870925 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGSK1,GOLGA6L9,LOC440297,LOC727849,RPS17,RPS17L chr15 82739751 82772000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGSK1,LOC440297,LOC727849 chr15 82739849 82740007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 82739849 82740007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82740881 82740964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82744018 82757403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440297 chr15 82744018 82757403 Gain and loss Pancreatic cancer SNP array 17952125 LOC440297 chr15 82744018 82757403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440297 chr15 82772001 83324500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGSK1,CPEB1,GOLGA6L10,GOLGA6L9,LOC283692,LOC390660,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 82835715 82844834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82854142 82861020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 82854142 82861020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 58286435 58287551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAB1 chr15 82871431 82915030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC390660 chr15 82871431 82915030 Gain and loss Pancreatic cancer SNP array 17952125 LOC390660 chr15 82871431 82915030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC390660 chr15 82878742 82892291 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 LOC390660 chr15 82914935 82949260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGSK1,LOC390660,LOC727849 chr1 58292643 58292743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr1 58294393 58294740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAB1 chr1 58294393 58294740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAB1 chr15 82945253 82967951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGSK1,LOC727849 chr15 82945253 82967951 Gain and loss Pancreatic cancer SNP array 17952125 AGSK1,LOC727849 chr15 82945253 82967951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGSK1,LOC727849 chr15 82975695 82985249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGSK1,LOC440297,LOC727849 chr15 82975695 82985249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGSK1,LOC440297,LOC727849 chr15 82975713 82985528 Gain and loss Pancreatic cancer SNP array 17952125 AGSK1,LOC440297,LOC727849 chr15 82985289 82985476 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC440297 chr15 82986264 83390172 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AGSK1,AP3B2,CPEB1,GOLGA6L10,GOLGA6L9,LOC283692,LOC338963,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 82987014 82998525 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr15 82987018 82998515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 82987018 82998525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82987018 82998525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82995037 82995454 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 82999364 83002806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82999364 83002806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 82999366 83002806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 83000000 83120000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 GOLGA6L10,GOLGA6L9,UBE2Q2P2,UBE2Q2P3 chr15 83000000 86900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTSL3,AGBL1,AGSK1,AKAP13,ALPK3,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,DNM1P41,FAM103A1,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HOMER2,KLHL25,LOC100505679,LOC100506874,LOC283692,LOC283693,LOC338963,LOC388152,LOC440297,LOC440300,LOC642423,LOC648809,LOC727849,LOC727915,MIR1276,MIR4515,NMB,PDE8A,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SH3GL3,SLC28A1,TM6SF1,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR73,WHAMM,ZNF592,ZSCAN2 chr15 83000000 86900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTSL3,AGBL1,AGSK1,AKAP13,ALPK3,AP3B2,BNC1,BTBD1,C15orf40,CPEB1,DNM1P41,FAM103A1,FSD2,GOLGA6L10,GOLGA6L4,GOLGA6L5,GOLGA6L9,HDGFRP3,HOMER2,KLHL25,LOC100505679,LOC100506874,LOC283692,LOC283693,LOC338963,LOC388152,LOC440297,LOC440300,LOC642423,LOC648809,LOC727849,LOC727915,MIR1276,MIR4515,NMB,PDE8A,RPS17,RPS17L,SCAND2,SCARNA15,SEC11A,SH3GL3,SLC28A1,TM6SF1,UBE2Q2P1,UBE2Q2P2,UBE2Q2P3,WDR73,WHAMM,ZNF592,ZSCAN2 chr15 83013781 83018061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L10 chr15 83013781 83060678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L10,UBE2Q2P2,UBE2Q2P3 chr15 83013781 83060678 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA6L10,UBE2Q2P2,UBE2Q2P3 chr15 83013781 83060678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA6L10,UBE2Q2P2,UBE2Q2P3 chr1 58303528 58303607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 83043940 83044743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBE2Q2P2,UBE2Q2P3 chr1 58304779 59117646 LOH Normal High-resolution SNP genotyping 21211785 DAB1,OMA1,TACSTD2 chr15 83063933 83217534 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGSK1,CPEB1,GOLGA6L9,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 chr15 83076050 83081743 Loss Normal 244K array 17666407 UBE2Q2P2,UBE2Q2P3 chr15 83110501 83490000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGSK1,AP3B2,CPEB1,FSD2,LOC283692,LOC283693,LOC338963,LOC440297,LOC727849,RPS17,RPS17L,SCARNA15,WHAMM chr15 83126889 83150663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGSK1,LOC440297,LOC727849 chr15 83126889 83150663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGSK1,LOC440297,LOC727849 chr15 83126911 83146628 Gain and loss Pancreatic cancer SNP array 17952125 AGSK1,LOC440297,LOC727849 chr1 58312774 58312841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DAB1 chr15 83127880 83251933 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AGSK1,CPEB1,LOC440297,LOC727849,RPS17,RPS17L chr15 83150880 83151180 Loss Renal cell carcinoma References 21215367 AGSK1,LOC727849 chr15 83156118 83157118 Loss Renal cell carcinoma References 21215367 AGSK1,LOC727849 chr15 83160915 83214566 Gain and loss Pancreatic cancer SNP array 17952125 AGSK1,CPEB1,LOC727849,RPS17,RPS17L chr15 83160915 83217714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGSK1,CPEB1,LOC727849,RPS17,RPS17L chr15 83160915 83217714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGSK1,CPEB1,LOC727849,RPS17,RPS17L chr15 83196733 83196849 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 83196733 83196850 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 83196733 83196850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 83199272 83200272 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 58322679 58322819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAB1 chr15 83228913 83290033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPEB1 chr15 83228913 83290033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB1 chr15 83228917 83290033 Gain and loss Pancreatic cancer SNP array 17952125 CPEB1 chr15 83263039 83263170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPEB1 chr15 83272788 83272863 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CPEB1 chr15 83282651 83282757 Gain and loss Pancreatic cancer SNP array 17952125 CPEB1 chr15 83282651 83282757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB1 chr15 83283852 83283958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB1 chr15 83283854 83283958 Gain and loss Pancreatic cancer SNP array 17952125 CPEB1 chr15 83310554 83310648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPEB1 chr15 83324501 83327000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283692 chr15 83324675 83483371 Gain and loss Pancreatic cancer SNP array 17952125 AP3B2,FSD2,LOC283692,LOC283693,LOC338963,SCARNA15,WHAMM chr15 83324675 83483380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP3B2,FSD2,LOC283692,LOC283693,LOC338963,SCARNA15,WHAMM chr15 83324675 83483380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP3B2,FSD2,LOC283692,LOC283693,LOC338963,SCARNA15,WHAMM chr15 83326208 83483376 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AP3B2,FSD2,LOC283692,LOC283693,LOC338963,SCARNA15,WHAMM chr15 83373219 83392099 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP3B2,LOC338963 chr15 83390172 85207758 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAMTSL3,BNC1,BTBD1,C15orf40,DNM1P41,FAM103A1,FSD2,GOLGA6L4,GOLGA6L5,HDGFRP3,HOMER2,LOC100505679,LOC100506874,LOC283693,LOC388152,LOC440300,LOC642423,LOC648809,MIR4515,NMB,SCAND2,SCARNA15,SH3GL3,TM6SF1,UBE2Q2P1,WDR73,WHAMM,ZSCAN2 chr15 83433416 83466824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FSD2 chr15 83451247 83451331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSD2 chr15 83451942 83685716 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BTBD1,C15orf40,FAM103A1,FSD2,HOMER2,WHAMM chr15 83451942 83685716 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BTBD1,C15orf40,FAM103A1,FSD2,HOMER2,WHAMM chr15 83490001 84173100 Copy number Normal ReadDepth: A Parallel R Package 21305028 BNC1,BTBD1,C15orf40,FAM103A1,HDGFRP3,HOMER2,MIR4515,SH3GL3,TM6SF1,WHAMM chr15 83494020 83512305 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WHAMM chr15 83499828 83499928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WHAMM chr15 83533501 83557500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HOMER2 chr15 83534995 83925276 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BNC1,BTBD1,C15orf40,FAM103A1,HDGFRP3,HOMER2,MIR4515,TM6SF1 chr15 83534995 83925276 Copy number gain Normal High-resolution SNP genotyping 21211785 BNC1,BTBD1,C15orf40,FAM103A1,HDGFRP3,HOMER2,MIR4515,TM6SF1 chr15 83538710 83540032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83538710 83540032 Gain and loss Pancreatic cancer SNP array 17952125 HOMER2 chr15 83538710 83540032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83540345 83540987 Gain and loss Pancreatic cancer SNP array 17952125 HOMER2 chr15 83548145 83554106 Gain and loss Pancreatic cancer SNP array 17952125 HOMER2 chr15 83549133 83549522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83551454 83551500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOMER2 chr15 83552817 83578980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83552817 83578980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83553350 83553433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83554313 83554484 Gain and loss Pancreatic cancer SNP array 17952125 HOMER2 chr15 83554313 83554484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83557501 83595500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HOMER2 chr15 83584678 83589583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83584678 83589583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOMER2 chr15 83584707 83591405 Gain and loss Pancreatic cancer SNP array 17952125 HOMER2 chr15 83595501 83616500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HOMER2 chr15 83599825 83614531 Gain and loss Pancreatic cancer SNP array 17952125 HOMER2 chr15 83650001 83652500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 83654400 83654537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 83663246 83663546 Gain Renal cell carcinoma References 21215367 C15orf40 chr15 83668968 83669068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf40 chr15 83673818 83674818 Loss Renal cell carcinoma References 21215367 C15orf40 chr15 83676828 83677828 Gain Renal cell carcinoma References 21215367 C15orf40 chr15 83680532 83681532 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 83720237 84021752 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BNC1,BTBD1,HDGFRP3,MIR4515,TM6SF1 chr15 83720237 84618201 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTSL3,BNC1,BTBD1,HDGFRP3,MIR4515,SH3GL3,TM6SF1 chr15 83724501 83725500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTBD1 chr15 83724874 84093590 Copy number Papillary thyroid carcinoma CGH 22161024 BNC1,BTBD1,HDGFRP3,MIR4515,TM6SF1 chr15 83724875 84093590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BNC1,BTBD1,HDGFRP3,MIR4515,TM6SF1 chr15 83724875 84093590 Gain and loss Pancreatic cancer SNP array 17952125 BNC1,BTBD1,HDGFRP3,MIR4515,TM6SF1 chr15 83724875 84093590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BNC1,BTBD1,HDGFRP3,MIR4515,TM6SF1 chr15 83734058 83734120 Gain and loss Pancreatic cancer SNP array 17952125 BTBD1 chr15 83750610 83755243 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 83782921 83783019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TM6SF1 chr15 83797001 83798500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TM6SF1 chr15 83804870 84063308 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 BNC1,HDGFRP3,TM6SF1 chr15 83806798 83806898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDGFRP3 chr15 83814880 83941471 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BNC1,HDGFRP3 chr15 83857919 83860178 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HDGFRP3 chr15 83858012 83860202 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HDGFRP3 chr15 83859025 83860176 Loss Normal 244K array 17666407 HDGFRP3 chr15 83903890 83903984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 83904226 83904258 Gain Normal 244K array 17666407 NOT_FOUND chr15 83995755 83995863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 83995757 83995863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 83995757 83995863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 84085001 84095000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 84086146 84086214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 84088039 84088039 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr15 84089456 84270044 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SH3GL3 chr15 84093955 84094055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 84095001 84118500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SH3GL3 chr15 84103561 84139193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH3GL3 chr15 84103561 84139193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3GL3 chr15 84103565 84139155 Gain and loss Pancreatic cancer SNP array 17952125 SH3GL3 chr15 84114731 84114813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 84118501 84219000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SH3GL3 chr15 84146487 84270044 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SH3GL3 chr15 84146487 84270044 Copy number gain Normal High-resolution SNP genotyping 21211785 SH3GL3 chr15 84148161 84148220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3GL3 chr15 84168696 84172686 Loss Normal 244K array 17666407 SH3GL3 chr15 84173101 84426100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTSL3,SH3GL3 chr15 84197668 84198208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SH3GL3 chr1 58419951 58421715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DAB1 chr15 84200099 84200199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3GL3 chr15 84215545 84802241 LOH Normal High-resolution SNP genotyping 21211785 ADAMTSL3,LOC648809,SH3GL3 chr15 84234580 84247009 Loss Normal 244K array 17666407 SH3GL3 chr15 84240788 84240883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3GL3 chr15 84243287 84243382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3GL3 chr15 84244764 84249453 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SH3GL3 chr15 84248525 84248619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3GL3 chr15 84254895 84267820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SH3GL3 chr15 84296150 84296274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 84312709 84322841 Loss Normal Birdsuite, version 1.5.2 22087296 ADAMTSL3 chr15 84322487 84884126 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTSL3,LOC100505679,LOC388152,LOC440300,LOC642423,LOC648809 chr15 84334683 84682272 Duplication Normal Affymetrix 6.0 microarrays 20967226 ADAMTSL3 chr15 84382009 84382109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTSL3 chr15 84398143 84398175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTSL3 chr15 84422529 84463812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADAMTSL3 chr15 84426101 85969400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTSL3,AKAP13,ALPK3,DNM1P41,GOLGA6L4,GOLGA6L5,LOC100505679,LOC100506874,LOC388152,LOC440300,LOC642423,LOC648809,NMB,PDE8A,SCAND2,SEC11A,SLC28A1,UBE2Q2P1,WDR73,ZNF592,ZSCAN2 chr15 84486246 85332327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTSL3,DNM1P41,GOLGA6L4,GOLGA6L5,LOC100505679,LOC100506874,LOC388152,LOC440300,LOC642423,LOC648809,NMB,SCAND2,SEC11A,UBE2Q2P1,WDR73,ZNF592,ZSCAN2 chr15 84486246 85332327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTSL3,DNM1P41,GOLGA6L4,GOLGA6L5,LOC100505679,LOC100506874,LOC388152,LOC440300,LOC642423,LOC648809,NMB,SCAND2,SEC11A,UBE2Q2P1,WDR73,ZNF592,ZSCAN2 chr15 84517433 84517505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTSL3 chr15 84517433 84517512 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTSL3 chr15 84517437 84517502 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTSL3 chr1 5845456 5975118 Deletion Cone-rod dystrophy References 22138850 MIR4689,NPHP4 chr1 5845456 5975118 Indels Malaria PCR,Delta Delta Ct 21533027 MIR4689,NPHP4 chr1 5845457 5975118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4689,NPHP4 chr1 5845457 5975118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4689,NPHP4 chr15 84589412 84589512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTSL3 chr15 84606860 84640450 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTSL3 chr1 58466942 58467263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAB1 chr15 84684853 84693981 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 ADAMTSL3 chr15 84773613 84884126 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100505679,LOC388152,LOC440300,LOC642423,LOC648809 chr15 84782150 84782235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC648809 chr15 84796851 84796951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58484644 58496032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAB1 chr15 84915001 84917000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 84967706 86669305 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP13,ALPK3,DNM1P41,GOLGA6L5,KLHL25,LOC100506874,LOC642423,MIR1276,NMB,PDE8A,SCAND2,SEC11A,SLC28A1,UBE2Q2P1,WDR73,ZNF592,ZSCAN2 chr15 84996921 86586302 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKAP13,ALPK3,DNM1P41,GOLGA6L5,KLHL25,LOC100506874,LOC642423,MIR1276,NMB,PDE8A,SCAND2,SEC11A,SLC28A1,UBE2Q2P1,WDR73,ZNF592,ZSCAN2 chr15 85076989 85109350 Loss Normal Birdsuite, version 1.5.2 22087296 UBE2Q2P1 chr1 58514601 58519200 Deletion Glioma mate-paired sequence 20126413 DAB1 chr15 85161725 85161781 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ZSCAN2 chr1 58516483 58517588 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DAB1 chr1 58516498 58517410 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DAB1 chr15 85200000 89100000 Copy number Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 AGBL1,AKAP13,ALPK3,DET1,KLHL25,LINC00052,LOC642423,LOC727915,MIR1276,MRPL46,MRPS11,NMB,NTRK3,NTRK3-AS1,PDE8A,SEC11A,SLC28A1,ZNF592 chr15 85207758 85544348 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALPK3,PDE8A,SEC11A,SLC28A1,ZNF592 chr1 58531035 58561791 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAB1 chr15 85385581 85411002 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALPK3 chr15 85407940 100338915 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1050K arrays 21546498 ABHD2,ACAN,AEN,AGBL1,AKAP13,ALPK3,ANPEP,AP3S2,ARRDC4,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,DET1,DNM1P46,FAM169B,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IGF1R,IQGAP1,ISG20,KIF7,KLHL25,LINC00052,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,LOC642423,LOC727915,LOC91948,LRRC28,LYSMD4,MAN2A2,MCTP2,MEF2A,MESP1,MESP2,MFGE8,MIR1179,MIR1276,MIR1469,MIR3175,MIR3529,MIR4714,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NR2F2,NTRK3,NTRK3-AS1,PDE8A,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLC28A1,SLCO3A1,SPATA8,ST8SIA2,SV2B,SYNM,TICRR,TTC23,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 85413252 86472154 Loss Prostate cancer Array CGH 18632612 AKAP13,ALPK3,KLHL25,LOC642423,MIR1276,PDE8A,SLC28A1 chr15 85473257 85478416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC28A1 chr15 85489155 85502391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 85490881 85490981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 85544348 89852700 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD2,ACAN,AEN,AGBL1,AKAP13,DET1,FANCI,HAPLN3,ISG20,KLHL25,LINC00052,LOC642423,LOC727915,MFGE8,MIR1179,MIR1276,MIR3529,MIR7-2,MRPL46,MRPS11,NTRK3,NTRK3-AS1,PDE8A,RLBP1 chr1 58560651 58560751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 85623703 85673768 Copy number loss Normal High-resolution SNP genotyping 21211785 PDE8A chr15 85631534 85671725 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PDE8A chr15 85679637 85679669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE8A chr15 85691981 85692060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 85696599 85711214 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 85696599 85714541 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 85707193 85721371 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 85707359 85736234 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 5857137 5861978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 85794571 85795996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 85818418 85818524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 85818418 85818524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 85865979 86171624 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AKAP13 chr15 85921144 100338915 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1051K arrays 21546498 ABHD2,ACAN,AEN,AGBL1,AKAP13,ANPEP,AP3S2,ARRDC4,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,DET1,DNM1P46,FAM169B,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IGF1R,IQGAP1,ISG20,KIF7,KLHL25,LINC00052,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,LOC727915,LOC91948,LRRC28,LYSMD4,MAN2A2,MCTP2,MEF2A,MESP1,MESP2,MFGE8,MIR1179,MIR1276,MIR1469,MIR3175,MIR3529,MIR4714,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NR2F2,NTRK3,NTRK3-AS1,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,SPATA8,ST8SIA2,SV2B,SYNM,TICRR,TTC23,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 85921180 85923000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 85921937 85923921 Gain and loss Pancreatic cancer SNP array 17952125 AKAP13 chr15 85969401 91434200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABHD2,ACAN,AEN,AGBL1,AKAP13,ANPEP,AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,DET1,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,IDH2,IQGAP1,ISG20,KIF7,KLHL25,LINC00052,LOC254559,LOC283761,LOC727915,MESP1,MESP2,MFGE8,MIR1179,MIR1276,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,RHCG,RLBP1,SEMA4B,TICRR,TTLL13,WDR93,ZNF710,ZNF774 chr15 86087315 86087415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP13 chr1 5861001 5974000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4689,NPHP4 chr15 86116457 86116527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP13 chr15 86137492 86137592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP13 chr15 86164408 86164508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP13 chr15 86170300 86170394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP13 chr15 86173804 86207395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AKAP13 chr15 86174188 86174288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP13 chr15 86203986 86600982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKAP13,KLHL25,MIR1276 chr15 86203986 86600982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP13,KLHL25,MIR1276 chr15 86220991 86600665 Amplification Intellectual disability 100k SNP Array 21811512 AKAP13,KLHL25,MIR1276 chr15 86220991 86600665 Copy number Lung cancer - 20668451 AKAP13,KLHL25,MIR1276 chr15 86220991 86600665 Gain or loss Breast cancer - 20668451 AKAP13,KLHL25,MIR1276 chr15 86220991 86600665 Gain or loss Cancer - 20668451 AKAP13,KLHL25,MIR1276 chr15 86220991 86600665 Gain or loss Lung cancer - 20668451 AKAP13,KLHL25,MIR1276 chr15 86220991 86600665 Gain or loss Ovarian cancer - 20668451 AKAP13,KLHL25,MIR1276 chr15 86220991 86600665 Gain or loss Pancreas cancer - 20668451 AKAP13,KLHL25,MIR1276 chr15 86220991 86600665 Gain or loss Prostate cancer - 20668451 AKAP13,KLHL25,MIR1276 chr15 86221053 86600659 Gain and loss Pancreatic cancer SNP array 17952125 AKAP13,KLHL25,MIR1276 chr15 86224813 86224913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP13 chr15 86400187 86408262 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr15 86401501 86591000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 58640948 58691287 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DAB1 chr1 58640948 58691537 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DAB1 chr15 86433110 86433200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58644137 58644237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr1 58645620 58724473 Gain and loss Pancreatic cancer SNP array 17952125 DAB1 chr15 86536466 86536498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58655618 58702269 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DAB1 chr1 58658784 60221344 Amplification Cancer Affymetrix 250K Sty array 20164920 DAB1,FGGY,HSD52,JUN,LOC100131060,MIR4711,MYSM1,OMA1,TACSTD2 chr15 86588739 86588841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 86591001 86602000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 86779422 86779540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL1 chr15 86780944 86799551 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGBL1 chr15 86780944 86802348 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGBL1 chr15 86782483 86799551 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGBL1 chr15 86803711 86811637 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 AGBL1 chr15 86803713 86811623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 86803713 86811623 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 86803713 86811623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 86811688 86822499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 86811688 86822499 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 86811688 86822499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr1 58681407 59831294 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DAB1,FGGY,HSD52,JUN,LOC100131060,MYSM1,OMA1,TACSTD2 chr15 86839360 86839445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL1 chr15 86846159 86853963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1,LOC727915 chr15 86848076 86853712 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1,LOC727915 chr15 86856717 86890916 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AGBL1,LOC727915 chr15 86856718 86875952 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1,LOC727915 chr15 86856718 86890910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1,LOC727915 chr15 86856718 86890910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1,LOC727915 chr15 86858018 86858333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGBL1,LOC727915 chr15 86859493 86862485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1,LOC727915 chr15 86859493 86867764 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1,LOC727915 chr15 86882814 86882917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr1 58688975 59361293 LOH Normal High-resolution SNP genotyping 21211785 DAB1,JUN,LOC100131060,MYSM1,OMA1,TACSTD2 chr15 86900000 92100000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ABHD2,ACAN,AEN,AGBL1,ANPEP,AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,DET1,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LINC00052,LOC100507118,LOC254559,LOC283761,MAN2A2,MESP1,MESP2,MFGE8,MIR1179,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,PRC1,RCCD1,RHCG,RLBP1,SEMA4B,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 86900000 92100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD2,ACAN,AEN,AGBL1,ANPEP,AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,DET1,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LINC00052,LOC100507118,LOC254559,LOC283761,MAN2A2,MESP1,MESP2,MFGE8,MIR1179,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,PRC1,RCCD1,RHCG,RLBP1,SEMA4B,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 86900000 92100000 Copy number Spondylocostal dysostosis high-resolution SNP arrays 21085971 ABHD2,ACAN,AEN,AGBL1,ANPEP,AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,DET1,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LINC00052,LOC100507118,LOC254559,LOC283761,MAN2A2,MESP1,MESP2,MFGE8,MIR1179,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,PRC1,RCCD1,RHCG,RLBP1,SEMA4B,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 86900000 92100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD2,ACAN,AEN,AGBL1,ANPEP,AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,DET1,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LINC00052,LOC100507118,LOC254559,LOC283761,MAN2A2,MESP1,MESP2,MFGE8,MIR1179,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,PRC1,RCCD1,RHCG,RLBP1,SEMA4B,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 86900000 96300000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 ABHD2,ACAN,AEN,AGBL1,ANPEP,AP3S2,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,DET1,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LINC00052,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,MAN2A2,MCTP2,MESP1,MESP2,MFGE8,MIR1179,MIR3175,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,ST8SIA2,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 86900000 96300000 Microdeletion Epilepsy Agilent Human Genome CGH Microarray Kit 244 A 19486360 ABHD2,ACAN,AEN,AGBL1,ANPEP,AP3S2,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,DET1,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LINC00052,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,MAN2A2,MCTP2,MESP1,MESP2,MFGE8,MIR1179,MIR3175,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,ST8SIA2,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 86948501 86950000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGBL1 chr15 86950001 87180500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGBL1 chr1 5869519 5869566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 86952342 86952432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr1 58695549 58695638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 86956060 86956169 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 86956060 86956169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 86965593 86976516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 86965593 86976516 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 86965593 86976516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 86980000 89060000 Loss Breast cancer aCGH 21509527 AGBL1,DET1,LINC00052,MRPL46,MRPS11,NTRK3,NTRK3-AS1 chr15 86982978 87000718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 86982978 87000718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 86983042 86999883 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 AGBL1 chr15 86983043 86999883 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 8700000 15800000 Deletion Neurocognitive NimbleGen 123*135K array 19506092 NOT_FOUND chr1 58700000 60900000 Amplification Normal - 22101487 C1orf87,CYP2J2,DAB1,FGGY,HOOK1,HSD52,JUN,LOC100131060,MIR4711,MYSM1,OMA1,TACSTD2 chr1 58700000 60900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C1orf87,CYP2J2,DAB1,FGGY,HOOK1,HSD52,JUN,LOC100131060,MIR4711,MYSM1,OMA1,TACSTD2 chr1 58700000 60900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C1orf87,CYP2J2,DAB1,FGGY,HOOK1,HSD52,JUN,LOC100131060,MIR4711,MYSM1,OMA1,TACSTD2 chr1 58700727 58700762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAB1 chr15 87045249 87045328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL1 chr15 87062023 87062123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL1 chr15 87093314 87093414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL1 chr1 58712133 58785040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DAB1 chr1 58712133 58785040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAB1 chr1 58712133 58785040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAB1 chr15 87138544 87139544 Loss Renal cell carcinoma References 21215367 AGBL1 chr1 5871399 5949729 Loss Neuroblastoma References 19638189 MIR4689,NPHP4 chr15 87147709 87218716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87147709 87218716 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 87147709 87218716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87180501 87258000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGBL1 chr15 87203243 87670737 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGBL1 chr15 87203243 88240757 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGBL1,LINC00052 chr15 87214644 87259576 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGBL1 chr15 87221522 87239774 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AGBL1 chr15 87221523 87239774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87221523 87239774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87221523 87239832 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 87242920 87257614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87242920 87257615 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 87268961 87313339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGBL1 chr15 87284962 87287550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGBL1 chr15 87303997 87305282 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 87303997 87305288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87333671 87360279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGBL1 chr15 87400000 94000000 Gain Acute myeloid leukemia BAC Array CGH 17237825 ABHD2,ACAN,AEN,AGBL1,ANPEP,AP3S2,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,DET1,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LINC00052,LOC100144604,LOC100507118,LOC100507217,LOC254559,LOC283761,MAN2A2,MESP1,MESP2,MFGE8,MIR1179,MIR3175,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,ST8SIA2,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 87432429 87546567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87432429 87546567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87432628 87541199 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr1 58743337 58743622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87445346 87445446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL1 chr15 87446175 87446244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL1 chr15 87486043 87486143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL1 chr1 58753878 58754849 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87541469 87544962 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 87543226 87617686 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 AGBL1 chr15 87545000 87546016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87545332 87546013 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 87554102 87565926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87554102 87565926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL1 chr15 87554105 87565926 Gain and loss Pancreatic cancer SNP array 17952125 AGBL1 chr15 87588198 87661366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87588198 87661366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87607672 87661366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87631469 87652534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 87660563 87679030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87660577 87679030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87660577 87679030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87662238 87662312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 87663001 87794000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 87712252 87712341 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr15 87712252 87712341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87712252 87712341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87726443 87726538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 87744178 87744270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 87772682 87772742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 87794001 87972500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 87815015 87815115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 87815646 87840818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87815646 87840819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87815646 87840819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 58785346 58819244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 87862099 87862169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 87872382 87906424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 87919822 87972255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87919822 87972255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87919903 87972254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87954771 87999867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 87972210 87992578 Copy number Lung cancer - 20668451 NOT_FOUND chr15 87972210 87992578 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 87972210 87992578 Gain or loss Cancer - 20668451 NOT_FOUND chr15 87972210 87992578 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 87972210 87992578 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 87972210 87992578 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 87972210 87992578 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 87972211 87992578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87972211 87992583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87972211 87992583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 87972501 88018000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 87992738 87999686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 87996808 88028535 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 NOT_FOUND chr15 88004167 88005167 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 88005210 88039094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 88007541 88008541 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 88008607 88023594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88008607 88023595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88008607 88023595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88027293 88035012 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88027318 88035012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88027318 88035012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88035032 88087870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88035032 88087870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88035032 88087870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 58803889 58804192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 58803904 58804189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88043354 88043454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88058467 88058573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88058467 88058573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88077094 98091807 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABHD2,ACAN,AEN,ANPEP,AP3S2,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,DET1,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LINC00052,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,MAN2A2,MCTP2,MESP1,MESP2,MFGE8,MIR1179,MIR1469,MIR3175,MIR3529,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NR2F2,NTRK3,NTRK3-AS1,PEX11A,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,SPATA8,ST8SIA2,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr1 58808708 58809087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88087501 88173000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00052 chr15 88094103 88095544 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 88094111 88095547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88094111 88095547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88094111 88095547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88105435 88144668 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LINC00052 chr15 88117253 88135244 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00052 chr15 88120593 88121516 Gain and loss Pancreatic cancer SNP array 17952125 LINC00052 chr15 88120593 88122979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00052 chr15 88120593 88122979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00052 chr15 88129129 88159076 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 88129130 88129435 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 88129131 88150938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88129131 88159076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88129131 88159076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88129284 88129368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58813683 58816033 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 58813683 58816033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 58813683 58816033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88149017 88183948 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 88173001 88387000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 88177793 88238206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88177793 88238206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88177793 88238206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88230721 88230827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88230722 88230827 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88230751 88257163 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88244836 88257163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88245111 88256923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88245111 88256923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88306483 88311985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 88306811 88306905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88316975 88709405 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NTRK3 chr1 58832205 58832529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 58832433 58867355 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88345756 88425029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88345756 88425029 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88345756 88425029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr1 58836334 59831294 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FGGY,HSD52,JUN,LOC100131060,MYSM1,OMA1,TACSTD2 chr15 88366960 88590229 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NTRK3 chr15 88367506 88367576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88378258 88378558 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 88387001 88436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTRK3 chr15 88417677 88417777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88428218 88446712 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88428220 88446712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88428220 88446712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88433614 88573204 Gain Normal Birdsuite, version 1.5.2 22087296 NTRK3 chr15 88435351 88954944 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NTRK3,NTRK3-AS1 chr15 88435351 89586297 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACAN,AEN,DET1,HAPLN3,ISG20,MFGE8,MIR1179,MIR3529,MIR7-2,MRPL46,MRPS11,NTRK3,NTRK3-AS1 chr15 88436312 88436412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK3 chr15 88436501 88636000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTRK3 chr15 88444863 88444952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK3 chr15 88446297 88446597 Loss Renal cell carcinoma References 21215367 NTRK3 chr15 88446447 88447447 Loss Cancer Human 24 color M-FISH 21215367 NTRK3 chr15 88464299 88468841 Gain Normal 244K array 17666407 NTRK3 chr15 88472190 88472290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK3 chr15 88474653 88474947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88474653 88474951 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88487858 88488858 Gain Renal cell carcinoma References 21215367 NTRK3 chr15 88510472 88510762 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88510472 88510762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88529156 88572879 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88529156 88573583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88529156 88573583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88550806 88551191 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88561995 89253599 Amplification Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 AEN,DET1,ISG20,MIR1179,MIR3529,MIR7-2,MRPL46,MRPS11,NTRK3,NTRK3-AS1 chr15 88573204 88576704 Gain Normal Birdsuite, version 1.5.2 22087296 NTRK3 chr15 88574482 88578168 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88574487 88578160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88574487 88578160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88576704 88579397 Gain Normal Birdsuite, version 1.5.2 22087296 NTRK3 chr15 88578490 88586316 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NTRK3 chr15 88582726 88586316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88582726 88586316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88585145 88585938 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88593766 88603303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88593766 88603303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88593792 88616443 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88605704 88605774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK3 chr15 88609899 88616447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88609899 88616447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88619270 88621845 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88628632 88629815 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88628632 88629815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88636001 88646000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTRK3 chr15 88638251 88638412 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88638251 88638412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88638582 88640008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88638600 88639085 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88639277 88639359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr1 58864006 58864121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88651847 100187234 Gain Developmental delay affymetrix genechip 500K/SNP 6.64 array 21147756 ABHD2,ACAN,AEN,ANPEP,AP3S2,ARRDC4,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,DET1,FAM169B,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IGF1R,IQGAP1,ISG20,KIF7,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,LOC91948,LRRC28,MAN2A2,MCTP2,MEF2A,MESP1,MESP2,MFGE8,MIR1179,MIR1469,MIR3175,MIR3529,MIR4714,MIR5094,MIR7-2,MIR9-3,MRPL46,MRPS11,NGRN,NR2F2,NTRK3,NTRK3-AS1,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,SPATA8,ST8SIA2,SV2B,SYNM,TICRR,TTC23,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 88659335 88659435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK3 chr15 88663507 88663865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTRK3 chr1 58869275 58869654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88693080 88693433 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88693080 88693433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88696481 88706833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88696481 88706833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3 chr15 88696546 88705718 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3 chr15 88699077 88699177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK3 chr15 88706273 88706373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK3 chr15 88732476 88846479 Copy number Lung cancer - 20668451 NTRK3,NTRK3-AS1 chr15 88732476 88846479 Gain or loss Breast cancer - 20668451 NTRK3,NTRK3-AS1 chr15 88732476 88846479 Gain or loss Cancer - 20668451 NTRK3,NTRK3-AS1 chr15 88732476 88846479 Gain or loss Lung cancer - 20668451 NTRK3,NTRK3-AS1 chr15 88732476 88846479 Gain or loss Ovarian cancer - 20668451 NTRK3,NTRK3-AS1 chr15 88732476 88846479 Gain or loss Pancreas cancer - 20668451 NTRK3,NTRK3-AS1 chr15 88732476 88846479 Gain or loss Prostate cancer - 20668451 NTRK3,NTRK3-AS1 chr15 88732477 88846479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTRK3,NTRK3-AS1 chr15 88732477 88846479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTRK3,NTRK3-AS1 chr15 88732505 88846474 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3,NTRK3-AS1 chr15 88735079 88735169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTRK3 chr15 88811087 88811155 Gain and loss Pancreatic cancer SNP array 17952125 NTRK3-AS1 chr15 88839013 88839113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88870216 88870427 Loss Normal 244K array 17666407 NOT_FOUND chr15 88872958 88873027 Gain Normal 244K array 17666407 NOT_FOUND chr15 88874161 88989567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 88874202 88989581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88876164 88876302 Loss Normal 244K array 17666407 NOT_FOUND chr15 88919807 88919875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58893000 58938312 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 88939337 88939437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88950794 88950894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88970923 88971023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 88974979 88975311 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 88980243 88980324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58898177 58938335 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 58898177 58938335 Gain or loss Cancer - 20668451 NOT_FOUND chr1 58898177 58938335 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 58898177 58938335 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 58898177 58938335 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 58898177 58938335 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 58898178 58938335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 58898178 58938335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 88982742 89012664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRPL46,MRPS11 chr15 88990369 89088365 Amplification or deletion Cancer Array CGH 17440070 DET1,MRPL46,MRPS11 chr1 58899976 58900062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 58903528 58937198 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 89061582 89159690 Gain or loss Breast cancer - 20668451 DET1,MIR1179,MIR3529,MIR7-2 chr15 89061582 89159690 Gain or loss Cancer - 20668451 DET1,MIR1179,MIR3529,MIR7-2 chr15 89061582 89159690 Gain or loss Lung cancer - 20668451 DET1,MIR1179,MIR3529,MIR7-2 chr15 89061582 89159690 Gain or loss Ovarian cancer - 20668451 DET1,MIR1179,MIR3529,MIR7-2 chr15 89061582 89159690 Gain or loss Pancreas cancer - 20668451 DET1,MIR1179,MIR3529,MIR7-2 chr15 89061582 89159690 Gain or loss Prostate cancer - 20668451 DET1,MIR1179,MIR3529,MIR7-2 chr15 89061583 89159690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DET1,MIR1179,MIR3529,MIR7-2 chr15 89061583 89159690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DET1,MIR1179,MIR3529,MIR7-2 chr15 89061639 89159688 Gain and loss Pancreatic cancer SNP array 17952125 DET1,MIR1179,MIR3529,MIR7-2 chr15 89064570 89064670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DET1 chr1 5890941 5891007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 89099477 89099546 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89099477 89099546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89100000 102531392 Deletion Hepatocellular carcinoma Array CGH 16750200 ABHD2,ACAN,ADAMTS17,AEN,ALDH1A3,ANPEP,AP3S2,ARRDC4,ASB7,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CERS3,CHD2,CHSY1,CIB1,CRTC3,DDX11L9,DNM1P46,FAM138E,FAM169B,FAM174B,FANCI,FES,FLJ42289,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IGF1R,IQGAP1,ISG20,KIF7,LINS,LOC100144604,LOC100507118,LOC100507217,LOC100507472,LOC145820,LOC254559,LOC283761,LOC400456,LOC91948,LRRC28,LRRK1,LYSMD4,MAN2A2,MCTP2,MEF2A,MESP1,MESP2,MFGE8,MIR1179,MIR1469,MIR3175,MIR3529,MIR4714,MIR5094,MIR7-2,MIR9-3,NGRN,NR2F2,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,SNRPA1,SPATA8,ST8SIA2,SV2B,SYNM,TARSL2,TICRR,TM2D3,TTC23,TTLL13,UNC45A,VIMP,VPS33B,WASH3P,WDR93,ZNF710,ZNF774 chr15 89100000 102531392 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ABHD2,ACAN,ADAMTS17,AEN,ALDH1A3,ANPEP,AP3S2,ARRDC4,ASB7,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CERS3,CHD2,CHSY1,CIB1,CRTC3,DDX11L9,DNM1P46,FAM138E,FAM169B,FAM174B,FANCI,FES,FLJ42289,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IGF1R,IQGAP1,ISG20,KIF7,LINS,LOC100144604,LOC100507118,LOC100507217,LOC100507472,LOC145820,LOC254559,LOC283761,LOC400456,LOC91948,LRRC28,LRRK1,LYSMD4,MAN2A2,MCTP2,MEF2A,MESP1,MESP2,MFGE8,MIR1179,MIR1469,MIR3175,MIR3529,MIR4714,MIR5094,MIR7-2,MIR9-3,NGRN,NR2F2,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,SNRPA1,SPATA8,ST8SIA2,SV2B,SYNM,TARSL2,TICRR,TM2D3,TTC23,TTLL13,UNC45A,VIMP,VPS33B,WASH3P,WDR93,ZNF710,ZNF774 chr15 89100000 98500000 Loss Breast cancer Microarray-based CGH 17133270 ABHD2,ACAN,AEN,ANPEP,AP3S2,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HAPLN3,HDDC3,IDH2,IQGAP1,ISG20,KIF7,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,LOC91948,MAN2A2,MCTP2,MESP1,MESP2,MFGE8,MIR1179,MIR1469,MIR3175,MIR3529,MIR5094,MIR7-2,MIR9-3,NGRN,NR2F2,PEX11A,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,SPATA8,ST8SIA2,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr1 58913802 58915189 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 89160501 89164500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 89163443 89163583 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr15 89164501 89217000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AEN,ISG20 chr15 89178586 89178686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 89198278 89198378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ISG20 chr15 89200171 89200441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89200179 89200438 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89200179 89200438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89203101 89203420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 89212888 89227691 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 89212888 89227691 Gain or loss Cancer - 20668451 NOT_FOUND chr15 89212888 89227691 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 89212888 89227691 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 89212888 89227691 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 89212888 89227691 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 89212889 89227691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89212889 89227691 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89212889 89227691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89217001 89240000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 89220113 89661514 Deletion Breast cancer FISH 17142309 ABHD2,ACAN,HAPLN3,MFGE8 chr15 89228703 89240010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89228703 89240010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89228713 89240010 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89229279 89240008 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 89238155 89238228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 89240001 89305500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 89247160 89265425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89248424 89266818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89248424 89266818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89256671 89256771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 58925684 58925792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89266116 89266280 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89274414 89298326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89274414 89298326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89274414 89298326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89275152 89276803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89275152 89276803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89275161 89276780 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 58927985 58929843 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 89282121 89282221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 89293627 89293727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 89299110 89307357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89299110 89307357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89300969 89306571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89305501 89388500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAN chr15 89310279 89338808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89310279 89338814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89310279 89338814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89321442 89321539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89321444 89321539 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89321448 89321538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 89340355 89341355 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 89341138 89342138 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 89342777 89366837 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ACAN chr15 89342778 89366837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAN chr15 89342778 89366837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAN chr15 89342909 89366817 Gain and loss Pancreatic cancer SNP array 17952125 ACAN chr15 89375985 89376671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAN chr15 89376186 89376671 Gain and loss Pancreatic cancer SNP array 17952125 ACAN chr15 89376887 89377037 Gain and loss Pancreatic cancer SNP array 17952125 ACAN chr15 89376887 89377037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAN chr15 89423285 89433097 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 HAPLN3 chr15 89439851 89439950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 89444519 89645543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD2,MFGE8 chr15 89444519 89645543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD2,MFGE8 chr15 89506780 89519902 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 58954 59871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 58954 59871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 89570104 89639514 Gain and loss Pancreatic cancer SNP array 17952125 ABHD2 chr15 89570106 89639654 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ABHD2 chr1 58958809 59044901 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 OMA1,TACSTD2 chr15 89593670 89593770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 89596628 100168689 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ABHD2,ANPEP,AP3S2,ARRDC4,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,FAM169B,FAM174B,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HDDC3,IDH2,IGF1R,IQGAP1,KIF7,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,LOC91948,LRRC28,MAN2A2,MCTP2,MEF2A,MESP1,MESP2,MIR1469,MIR3175,MIR4714,MIR5094,MIR9-3,NGRN,NR2F2,PEX11A,PGPEP1L,PLIN1,POLG,PRC1,RCCD1,RGMA,RHCG,RLBP1,SEMA4B,SLCO3A1,SPATA8,ST8SIA2,SV2B,SYNM,TICRR,TTC23,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr1 58959768 58960763 Gain and loss Pancreatic cancer SNP array 17952125 OMA1 chr1 58960539 58960632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OMA1 chr1 58960543 58960629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OMA1 chr15 89610636 89655131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABHD2 chr15 89632152 89632232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABHD2 chr15 89632854 89841316 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABHD2,FANCI,RLBP1 chr1 5896395 5941653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4689,NPHP4 chr15 89649614 89649714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABHD2 chr15 89656443 92093625 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1057K arrays 21546498 ABHD2,ANPEP,AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,FANCI,FES,FURIN,GABARAPL3,GDPGP1,HDDC3,IDH2,IQGAP1,KIF7,LOC100507118,LOC254559,LOC283761,MAN2A2,MESP1,MESP2,MIR5094,MIR9-3,NGRN,PEX11A,PLIN1,POLG,PRC1,RCCD1,RHCG,RLBP1,SEMA4B,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 89714825 89715825 Gain Renal cell carcinoma References 21215367 ABHD2 chr15 89722206 89723206 Loss Renal cell carcinoma References 21215367 ABHD2 chr15 89764559 89765559 Gain Renal cell carcinoma References 21215367 RLBP1 chr15 89776273 89777273 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 89782582 89790269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FANCI chr15 89782788 89784409 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 89782898 89793176 Loss Normal 244K array 17666407 FANCI chr15 89860904 89861904 Loss Renal cell carcinoma References 21215367 POLG chr15 89860929 89861004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLG chr1 58986251 58986359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OMA1 chr15 89867104 89868104 Loss Renal cell carcinoma References 21215367 POLG chr15 89908495 89908585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 89934598 100192115 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANPEP,AP3S2,ARRDC4,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,FAM169B,FAM174B,FES,FURIN,GABARAPL3,GDPGP1,HDDC3,IDH2,IGF1R,IQGAP1,KIF7,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC254559,LOC283761,LOC400456,LOC91948,LRRC28,MAN2A2,MCTP2,MEF2A,MESP1,MESP2,MIR1469,MIR3175,MIR4714,MIR5094,NGRN,NR2F2,PEX11A,PGPEP1L,PLIN1,PRC1,RCCD1,RGMA,RHCG,SEMA4B,SLCO3A1,SPATA8,ST8SIA2,SV2B,SYNM,TICRR,TTC23,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 89992630 90037412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RHCG chr1 59000000 61300000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 C1orf87,CYP2J2,FGGY,HOOK1,HSD52,JUN,LOC100131060,MIR4711,MYSM1,OMA1,TACSTD2 chr1 59000000 68900000 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,C1orf87,CACHD1,CYP2J2,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FGGY,FOXD3,GADD45A,GNG12,GNG12-AS1,HOOK1,HSD52,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,L1TD1,LEPR,LEPROT,LINC00466,LOC100131060,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4711,MIR4794,MYSM1,NFIA,OMA1,PDE4B,PGM1,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,TACSTD2,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 59000000 84900000 Loss Breast cancer Microarray-based CGH 17133270 ACADM,AK4,AK5,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf173,C1orf87,CACHD1,CRYZ,CTH,CYP2J2,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DNASE2B,DOCK7,EFCAB7,ELTD1,FAM73A,FGGY,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GIPC2,GNG12,GNG12-AS1,HHLA3,HOOK1,HSD52,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LOC100131060,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4711,MIR4794,MIR548AP,MSH4,MYSM1,NEGR1,NEGR1-IT1,NEXN,NFIA,OMA1,PDE4B,PGM1,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RAVER2,ROR1,RPE65,SAMD13,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TACSTD2,TCTEX1D1,TM2D1,TNNI3K,TTLL7,TYW3,UBE2U,UOX,USP1,USP33,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 59000000 99700000 Gain Prostate cancer Array CGH 16573809 ABCA4,ABCD3,ACADM,AK4,AK5,ALG14,ALG6,ANGPTL3,ANKRD13C,ARHGAP29,ASB17,ATG4C,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf141,C1orf146,C1orf173,C1orf180,C1orf52,C1orf87,CACHD1,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CRYZ,CTBS,CTH,CYP2J2,CYR61,DDAH1,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DPYD,DPYD-AS1,DR1,EFCAB7,ELTD1,EPHX4,EVI5,F3,FAM69A,FAM73A,FGGY,FLJ27354,FLJ31662,FNBP1L,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG12,GNG12-AS1,GNG5,GTF2B,HFM1,HHLA3,HOOK1,HS2ST1,HSD52,HSP90B3P,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,JUN,KANK4,KIAA1107,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LMO4,LOC100129046,LOC100129620,LOC100131060,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR5,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR3117,MIR3671,MIR4423,MIR4711,MIR4794,MIR548AP,MIR760,MSH4,MTF2,MYSM1,NEGR1,NEGR1-IT1,NEXN,NFIA,ODF2L,OMA1,PDE4B,PGM1,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RAVER2,RBMXL1,ROR1,RPAP2,RPE65,RPF1,RPL5,RWDD3,SAMD13,SEP15,SERBP1,SGIP1,SH3GLB1,SLC35D1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TACSTD2,TCTEX1D1,TGFBR3,TM2D1,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TTLL7,TYW3,UBE2U,UOX,USP1,USP33,WDR63,WDR78,WLS,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr15 90053506 92224829 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANPEP,AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,FES,FURIN,GABARAPL3,GDPGP1,HDDC3,IDH2,IQGAP1,KIF7,LOC100507118,LOC283761,MAN2A2,MESP1,MESP2,MIR5094,NGRN,PEX11A,PLIN1,PRC1,RCCD1,SEMA4B,SV2B,TICRR,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 90088495 90120094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TICRR chr1 59012576 59957925 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FGGY,HSD52,JUN,LOC100131060,MYSM1,TACSTD2 chr15 90142709 90142766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TICRR chr15 90175180 90175280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF7 chr15 90185747 90185842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF7 chr1 59019048 59022587 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 59019048 59022587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 59019048 59022587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 59019050 59022373 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 59019050 59022373 Gain or loss Cancer - 20668451 NOT_FOUND chr1 59019050 59022373 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 59019050 59022373 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 59019050 59022373 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 59019050 59022373 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 90197950 90507775 Gain and loss Pancreatic cancer SNP array 17952125 ANPEP,AP3S2,C15orf38,C15orf38-AP3S2,KIF7,MESP1,MESP2,MIR5094,PEX11A,PLIN1,WDR93 chr15 90197950 90507783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANPEP,AP3S2,C15orf38,C15orf38-AP3S2,KIF7,MESP1,MESP2,MIR5094,PEX11A,PLIN1,WDR93 chr15 90197950 90507783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANPEP,AP3S2,C15orf38,C15orf38-AP3S2,KIF7,MESP1,MESP2,MIR5094,PEX11A,PLIN1,WDR93 chr1 59020501 59024000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 90229885 90229985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEX11A chr15 90246877 93627801 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANPEP,AP3S2,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,FAM174B,FES,FURIN,GABARAPL3,GDPGP1,HDDC3,IDH2,IQGAP1,LOC100144604,LOC100507118,LOC100507217,MAN2A2,MESP1,MESP2,MIR3175,MIR5094,NGRN,PRC1,RCCD1,RGMA,SEMA4B,SLCO3A1,ST8SIA2,SV2B,TTLL13,UNC45A,VPS33B,WDR93,ZNF710,ZNF774 chr15 90290000 91460000 Gain Breast cancer aCGH 21509527 ANPEP,AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,FES,FURIN,GABARAPL3,GDPGP1,IDH2,IQGAP1,MAN2A2,MESP1,MESP2,MIR5094,NGRN,SEMA4B,TTLL13,ZNF710,ZNF774 chr15 90293606 90294606 Loss Renal cell carcinoma References 21215367 MESP1 chr15 90299789 90333837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANPEP,MESP2 chr15 90306231 90370961 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ANPEP,MESP2 chr15 90316232 90316309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 90343281 90343355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANPEP chr15 90345243 90346243 Loss Renal cell carcinoma References 21215367 ANPEP chr15 90356725 100338915 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1067K arrays 21546498 ANPEP,AP3S2,ARRDC4,ASB9P1,BLM,C15orf32,C15orf38,C15orf38-AP3S2,CHD2,CIB1,CRTC3,DNM1P46,FAM169B,FAM174B,FES,FURIN,GABARAPL3,GDPGP1,HDDC3,IDH2,IGF1R,IQGAP1,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC400456,LOC91948,LRRC28,LYSMD4,MAN2A2,MCTP2,MEF2A,MIR1469,MIR3175,MIR4714,MIR5094,NGRN,NR2F2,PGPEP1L,PRC1,RCCD1,RGMA,SEMA4B,SLCO3A1,SPATA8,ST8SIA2,SV2B,SYNM,TTC23,TTLL13,UNC45A,VPS33B,ZNF710,ZNF774 chr15 90386348 90436995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP3S2,C15orf38-AP3S2,MIR5094 chr15 90391244 92242489 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AP3S2,BLM,C15orf38,C15orf38-AP3S2,CIB1,CRTC3,FES,FURIN,GABARAPL3,GDPGP1,HDDC3,IDH2,IQGAP1,LOC100507118,MAN2A2,MIR5094,NGRN,PRC1,RCCD1,SEMA4B,SV2B,TTLL13,UNC45A,VPS33B,ZNF710,ZNF774 chr15 90395182 90409628 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AP3S2,C15orf38-AP3S2 chr15 90399869 90459482 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AP3S2,C15orf38,C15orf38-AP3S2 chr15 90423352 90426194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP3S2,C15orf38-AP3S2 chr15 90445911 90449733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C15orf38,C15orf38-AP3S2 chr15 90445912 90460682 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C15orf38,C15orf38-AP3S2 chr15 90475115 90478455 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 90475578 90478074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 90487727 90487727 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 90531694 90532600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 90537319 91068340 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CIB1,GABARAPL3,GDPGP1,IDH2,IQGAP1,NGRN,SEMA4B,TTLL13,ZNF710,ZNF774 chr15 90570601 90576001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF710 chr15 90603911 90607766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF710 chr15 90630062 90630914 Gain and loss Pancreatic cancer SNP array 17952125 IDH2 chr15 90630062 90630914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IDH2 chr15 90669935 90678661 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 90680503 90838578 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CIB1,GDPGP1,NGRN,SEMA4B,TTLL13 chr15 90680503 90838578 Copy number gain Normal High-resolution SNP genotyping 21211785 CIB1,GDPGP1,NGRN,SEMA4B,TTLL13 chr15 90681505 90879965 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CIB1,GDPGP1,NGRN,SEMA4B,TTLL13 chr15 90683010 100022043 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ARRDC4,ASB9P1,BLM,C15orf32,CHD2,CIB1,CRTC3,FAM169B,FAM174B,FES,FURIN,GABARAPL3,GDPGP1,HDDC3,IGF1R,IQGAP1,LOC100144604,LOC100507118,LOC100507217,LOC145820,LOC400456,LOC91948,LRRC28,MAN2A2,MCTP2,MIR1469,MIR3175,MIR4714,NGRN,NR2F2,PGPEP1L,PRC1,RCCD1,RGMA,SEMA4B,SLCO3A1,SPATA8,ST8SIA2,SV2B,SYNM,TTC23,TTLL13,UNC45A,VPS33B,ZNF774 chr15 90738144 90812962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIB1,GDPGP1,NGRN,SEMA4B,TTLL13 chr15 90738144 90812962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIB1,GDPGP1,NGRN,SEMA4B,TTLL13 chr15 90738275 90808619 Gain and loss Pancreatic cancer SNP array 17952125 CIB1,GDPGP1,SEMA4B,TTLL13 chr15 90762398 90762493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA4B chr15 90815911 90845351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 90815911 90845351 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 90815911 90845351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 90931472 91045475 Amplificationlication Thyroid cancer ABI 7900HT PCR 20959410 IQGAP1 chr15 90956585 90956680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQGAP1 chr15 90961682 91000035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQGAP1 chr15 90961682 91000035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQGAP1 chr15 90961685 91000035 Gain and loss Pancreatic cancer SNP array 17952125 IQGAP1 chr15 90971265 90972265 Gain Renal cell carcinoma References 21215367 IQGAP1 chr15 90982015 91015936 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IQGAP1 chr15 90984603 90985603 Gain Renal cell carcinoma References 21215367 IQGAP1 chr15 90984622 90985622 Gain Renal cell carcinoma References 21215367 IQGAP1 chr15 90985184 90986184 Gain Renal cell carcinoma References 21215367 IQGAP1 chr15 91038651 91038951 Loss Renal cell carcinoma References 21215367 IQGAP1 chr15 91039719 91040719 Gain Renal cell carcinoma References 21215367 IQGAP1 chr15 91050856 91051856 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 91050941 91051941 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 91051056 91052056 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 91055981 91057109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 91056042 91056344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 91059027 91060027 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr15 91059027 91060027 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 91078042 91078429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTC3 chr15 91106865 91107978 Gain and loss Pancreatic cancer SNP array 17952125 CRTC3 chr15 91115484 91116992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRTC3 chr15 91132723 91627577 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BLM,CRTC3,FES,FURIN,HDDC3,LOC100507118,MAN2A2,PRC1,RCCD1,UNC45A,VPS33B chr15 91137740 91137840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTC3 chr15 91139881 91140790 Gain and loss Pancreatic cancer SNP array 17952125 CRTC3 chr15 91169565 91204856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRTC3 chr15 91200007 91283004 Loss Autism qPCR 20531469 BLM chr15 91244423 91366396 Gain and loss Pancreatic cancer SNP array 17952125 BLM chr15 91244423 91372237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLM chr15 91244423 91372237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLM chr1 5913000 7696000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,MIR4689,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr15 91310222 91311222 Gain Renal cell carcinoma References 21215367 BLM chr15 91315001 91318900 Deletion Glioma mate-paired sequence 20126413 BLM chr15 91316792 91317104 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BLM chr15 91324428 91325428 Gain Cancer Human 24 color M-FISH 21215367 BLM chr15 91324428 91325428 Gain Renal cell carcinoma References 21215367 BLM chr15 91339377 91340377 Gain Renal cell carcinoma References 21215367 BLM chr15 91341706 91341806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BLM chr15 91368641 91372172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 9136946 19436199 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr15 91370501 91418500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FURIN chr15 91387641 91433437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FES,FURIN chr15 91387641 91433437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FES,FURIN chr15 91387651 91417381 Gain and loss Pancreatic cancer SNP array 17952125 FURIN chr15 91400632 91400664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 91404612 91435937 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 FES,FURIN chr15 91409888 91410597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 91434201 91788400 Copy number Normal ReadDepth: A Parallel R Package 21305028 FES,HDDC3,LOC100507118,MAN2A2,PRC1,RCCD1,SV2B,UNC45A,VPS33B chr15 9143750 19456658 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr15 91444669 91444891 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr15 91462989 91464168 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAN2A2 chr15 91468546 91686822 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 HDDC3,LOC100507118,PRC1,RCCD1,SV2B,UNC45A,VPS33B chr15 91478561 91479561 Gain Renal cell carcinoma References 21215367 UNC45A chr15 91491722 91492722 Gain Renal cell carcinoma References 21215367 UNC45A chr15 91494667 91495667 Gain Renal cell carcinoma References 21215367 UNC45A chr15 91494693 91495693 Gain Renal cell carcinoma References 21215367 UNC45A chr15 91494734 91495734 Gain Renal cell carcinoma References 21215367 UNC45A chr15 91502359 91503359 Loss Renal cell carcinoma References 21215367 RCCD1 chr15 91550299 91552281 Gain and loss Pancreatic cancer SNP array 17952125 VPS33B chr1 5915905 5915905 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr15 91605927 91621304 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 91630468 91630556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 91670604 92156214 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SV2B chr15 91671304 91671404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SV2B chr15 91677657 91677832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SV2B chr15 91716559 91716632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SV2B chr15 91751147 91768868 Loss Normal Birdsuite, version 1.5.2 22087296 SV2B chr15 91751911 91752011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SV2B chr15 91764514 91764573 Gain and loss Pancreatic cancer SNP array 17952125 SV2B chr15 91764514 91764573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SV2B chr15 91784633 91784703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SV2B chr15 91788401 94647300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASB9P1,C15orf32,CHD2,FAM174B,LOC100144604,LOC100507217,MIR3175,RGMA,SLCO3A1,ST8SIA2,SV2B chr1 59179017 59179117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 91834883 91835883 Gain Renal cell carcinoma References 21215367 SV2B chr15 91846730 91847730 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 91846801 91847801 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 91857262 91857340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 91858682 91858982 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 91858832 91859832 Loss Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr1 59189704 59207492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 91924909 91925909 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 91924930 91925930 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 91924945 91925945 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 91925121 91926121 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 91925124 91926124 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 91927263 91928263 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 91947628 91959244 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr15 91951194 92045357 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 91954544 92037412 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 92010000 92500000 Duplication Schizophrenia BAC array CGH 17989066 SLCO3A1 chr15 92027881 92027923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 92052826 92053826 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr1 59205317 59205417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59205343 59205481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 92082499 92083499 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 92089313 92123835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 92100000 96300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASB9P1,C15orf32,CHD2,FAM174B,LOC100144604,LOC100507217,LOC145820,LOC400456,MCTP2,MIR3175,RGMA,SLCO3A1,ST8SIA2 chr15 92100000 96300000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 ASB9P1,C15orf32,CHD2,FAM174B,LOC100144604,LOC100507217,LOC145820,LOC400456,MCTP2,MIR3175,RGMA,SLCO3A1,ST8SIA2 chr15 92100000 96300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASB9P1,C15orf32,CHD2,FAM174B,LOC100144604,LOC100507217,LOC145820,LOC400456,MCTP2,MIR3175,RGMA,SLCO3A1,ST8SIA2 chr15 92150000 100210000 Gain Burkitt's lymphoma 244 K aCGH platform 19759907 ARRDC4,ASB9P1,C15orf32,CHD2,FAM169B,FAM174B,IGF1R,LOC100144604,LOC100507217,LOC145820,LOC400456,LOC91948,LRRC28,MCTP2,MEF2A,MIR1469,MIR3175,MIR4714,NR2F2,PGPEP1L,RGMA,SLCO3A1,SPATA8,ST8SIA2,SYNM,TTC23 chr1 59219369 59219508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 59219369 59219516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 92195988 92196088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 92224829 95665107 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ASB9P1,C15orf32,CHD2,FAM174B,LOC100144604,LOC100507217,MCTP2,MIR3175,RGMA,SLCO3A1,ST8SIA2 chr15 92237227 92237262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 92241145 92241260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 92282708 92282803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 92317721 92317855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 92330402 92376057 Translate Papillary thyroid carcinoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr1 5923407 5923456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPHP4 chr15 92356647 92372097 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 92367397 92367497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59237936 59238754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 92392850 93813053 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASB9P1,C15orf32,CHD2,FAM174B,LOC100144604,LOC100507217,MIR3175,RGMA,SLCO3A1,ST8SIA2 chr15 92424414 92424508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92425331 92425424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO3A1 chr15 92478933 92479033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92485588 92485677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92486368 92486468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92500000 100000000 Gain Acute lymphoblastic leukemia - 21339820 ARRDC4,ASB9P1,C15orf32,CHD2,FAM169B,FAM174B,IGF1R,LOC100144604,LOC100507217,LOC145820,LOC400456,LOC91948,LRRC28,MCTP2,MIR1469,MIR3175,MIR4714,NR2F2,PGPEP1L,RGMA,SLCO3A1,SPATA8,ST8SIA2,SYNM,TTC23 chr15 92508951 92509041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92514862 92548779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLCO3A1 chr15 92532137 92557833 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SLCO3A1 chr15 92538966 92539016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92556912 92556981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92572956 92573056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92575955 92824636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLCO3A1 chr15 92575955 92824636 Gain and loss Pancreatic cancer SNP array 17952125 SLCO3A1 chr15 92575955 92824636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO3A1 chr15 92593309 92593399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92632865 93237084 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1047K arrays 21546498 C15orf32,FAM174B,LOC100144604,SLCO3A1,ST8SIA2 chr15 92687327 92689599 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SLCO3A1 chr15 92697309 92697364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92706802 92706902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92708944 92709044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO3A1 chr15 92721994 92722230 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 92734299 92734366 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr15 92841099 92841199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 92908532 92908632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59297095 66640400 Loss Developmental delay affymetrix genechip 500K/SNP 6.5 array 21147756 AK4,ALG6,ANGPTL3,ATG4C,C1orf87,CACHD1,CYP2J2,DLEU2L,DNAJC6,DOCK7,EFCAB7,FGGY,FOXD3,HOOK1,HSD52,INADL,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,LOC100131060,MIR101-1,MIR3671,MIR4711,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,TM2D1,UBE2U,USP1 chr15 93005738 93005828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST8SIA2 chr15 93028315 93028957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C15orf32 chr15 93033418 93033513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C15orf32 chr15 93052288 93052388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 93072137 93072237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 93117053 93117157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 93135939 93136039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 5931800 5931852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPHP4 chr15 93197607 93197881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM174B chr15 93199706 93200535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 93199707 93201148 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 93247092 93247192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 93267980 93447142 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB9P1,CHD2,LOC100507217 chr1 59327368 59327468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100131060 chr15 93365193 93752265 Gain or loss Breast cancer - 20668451 CHD2,LOC100507217,MIR3175,RGMA chr15 93365193 93752265 Gain or loss Cancer - 20668451 CHD2,LOC100507217,MIR3175,RGMA chr15 93365193 93752265 Gain or loss Lung cancer - 20668451 CHD2,LOC100507217,MIR3175,RGMA chr15 93365193 93752265 Gain or loss Ovarian cancer - 20668451 CHD2,LOC100507217,MIR3175,RGMA chr15 93365193 93752265 Gain or loss Pancreas cancer - 20668451 CHD2,LOC100507217,MIR3175,RGMA chr15 93365193 93752265 Gain or loss Prostate cancer - 20668451 CHD2,LOC100507217,MIR3175,RGMA chr15 93365342 93365437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 93380771 93386006 Loss Normal 244K array 17666407 NOT_FOUND chr1 5934066 5934298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPHP4 chr1 5934179 5934301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPHP4 chr1 5934303 5934494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPHP4 chr1 59345199 59345289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100131060 chr15 93490701 93494900 Deletion Glioma mate-paired sequence 20126413 CHD2 chr15 93598101 93598168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGMA chr15 93611933 93612008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGMA chr15 93613450 93613550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGMA chr15 93678236 93678336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59370619 59370858 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 93724029 93756124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 93754271 94130560 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr15 93813053 96622820 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC145820,LOC400456,MCTP2 chr15 93814951 93815029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59382745 59382842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 93845138 93846566 Loss Normal 244K array 17666407 NOT_FOUND chr15 93848874 93848967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 93865747 93865847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 93953545 93953645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94000718 94001718 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 94011553 94012553 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 94034059 94034159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94063738 94063838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94081357 94112224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 94090037 94090224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 94090037 94090227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 94090037 94090227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 94114615 94114715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94124351 94124451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94128878 94128950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 94128878 94128950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 94138505 95078636 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MCTP2 chr15 94193534 94193634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94214009 94214109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94219335 94439704 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 59423122 59468206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 94236422 94236522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94300000 102531392 Gain Breast cancer Microarray-based CGH 17133270 ADAMTS17,ALDH1A3,ARRDC4,ASB7,CERS3,CHSY1,DDX11L9,DNM1P46,FAM138E,FAM169B,FLJ42289,IGF1R,LINS,LOC100507472,LOC145820,LOC400456,LOC91948,LRRC28,LRRK1,LYSMD4,MCTP2,MEF2A,MIR1469,MIR4714,NR2F2,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PGPEP1L,SNRPA1,SPATA8,SYNM,TARSL2,TM2D3,TTC23,VIMP,WASH3P chr15 94300000 98500000 Deletion Colorectal cancer GISTIC software 19359472 LOC145820,LOC400456,LOC91948,MCTP2,MIR1469,NR2F2,SPATA8 chr15 94300000 98500000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 LOC145820,LOC400456,LOC91948,MCTP2,MIR1469,NR2F2,SPATA8 chr1 59432000 59432070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59433622 59433717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94382674 94384014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 94391860 94391957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94456383 94457047 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 94463200 94463251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 94549098 94549198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94632284 94632664 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 94632284 94632664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 94637142 94649388 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 94647476 94647576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94666001 94715500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 94670543 94684496 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 94670543 94684496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 94670543 94684496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 94674950 94683045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 94677494 94677540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 94699268 97327267 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC145820,LOC400456,MCTP2,MIR1469,NR2F2,SPATA8 chr15 94705491 94705904 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 94705491 94705904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 94723201 95229200 Copy number Normal ReadDepth: A Parallel R Package 21305028 MCTP2 chr1 59474674 59940415 Gain and loss Pancreatic cancer SNP array 17952125 FGGY,HSD52 chr15 94786339 94786547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 94804089 94849215 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MCTP2 chr1 59480422 59480522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94819727 94819900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 94830820 94831125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 94830824 94831049 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 94830824 94831049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 94849869 94849969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCTP2 chr15 94900767 94900826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCTP2 chr15 94931776 94931876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCTP2 chr15 94943394 94943494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCTP2 chr15 95052889 95403459 Loss Bladder cancer array-CGH 21909424 NOT_FOUND chr15 95060301 95072000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 95063973 95064056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 95086772 95086872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95094154 95094254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95101533 95102821 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 95101533 95102821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 95127680 95129848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 95127680 95129848 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 95127680 95129848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 95135953 95889109 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LOC400456 chr15 95186303 95186540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 95186303 95186630 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 95186303 95186630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 95199381 96163064 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC145820,LOC400456 chr15 95208805 95208875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95229201 95988200 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC145820,LOC400456 chr1 59524885 59524985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95276438 95276538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95345983 95347392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 59535328 60000988 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGGY,HSD52 chr1 59535328 60000988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGGY,HSD52 chr1 59535328 60000988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGGY,HSD52 chr15 95364698 95364798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95435496 95435586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 95465417 95465509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 5954715 5969183 Amplification or deletion Cancer Array CGH 17440070 NPHP4 chr15 95508704 95833748 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC400456 chr15 95516790 95516874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95609079 95634640 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr15 95618796 95633191 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr15 95657088 95735864 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr15 95697731 95697960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 95697731 95697960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 95754314 95754626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 95754315 95754626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 95774994 95775094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95810343 96887431 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC145820,LOC400456,MIR1469,NR2F2 chr15 95810479 95810579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95816403 95816485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 95816403 95816485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 95854173 95854239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC400456 chr15 95904988 99757059 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1055K arrays 21546498 ARRDC4,FAM169B,IGF1R,LOC145820,LOC91948,MIR1469,MIR4714,NR2F2,PGPEP1L,SPATA8,SYNM,TTC23 chr1 59591299 59591485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59591470 59591570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59591479 59591706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95955515 95955615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 95988201 97911000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC145820,MIR1469,NR2F2,SPATA8 chr15 96027623 96028109 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC145820 chr15 96027943 96028088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC145820 chr15 96088092 97046858 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MIR1469,NR2F2 chr15 96100437 96100527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96101678 96136911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 96127545 96127769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96127669 96127769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96127776 96127944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96172413 96172513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96173138 96173230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96218061 96218784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 96300000 100338915 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARRDC4,DNM1P46,FAM169B,IGF1R,LOC91948,LRRC28,LYSMD4,MEF2A,MIR1469,MIR4714,NR2F2,PGPEP1L,SPATA8,SYNM,TTC23 chr15 96300000 100338915 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARRDC4,DNM1P46,FAM169B,IGF1R,LOC91948,LRRC28,LYSMD4,MEF2A,MIR1469,MIR4714,NR2F2,PGPEP1L,SPATA8,SYNM,TTC23 chr15 96300000 100338915 Duplication Mental retardation Salsa MLPA kit P036B and P070 20811773 ARRDC4,DNM1P46,FAM169B,IGF1R,LOC91948,LRRC28,LYSMD4,MEF2A,MIR1469,MIR4714,NR2F2,PGPEP1L,SPATA8,SYNM,TTC23 chr15 96300000 100338915 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ARRDC4,DNM1P46,FAM169B,IGF1R,LOC91948,LRRC28,LYSMD4,MEF2A,MIR1469,MIR4714,NR2F2,PGPEP1L,SPATA8,SYNM,TTC23 chr15 96301902 96368988 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr15 96304936 96318072 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr15 96304947 96318060 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 96304947 96318062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 96304947 96318062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 96333626 96337473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 96402389 96402633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 96435419 96435515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 96461267 96461317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96479471 96479546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96521463 96521561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96523001 96524500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 96523613 96523940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 96527941 96528023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 96580394 96580474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96632601 96636200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 96634540 96634948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 96653435 100338915 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1043K arrays 21546498 ARRDC4,DNM1P46,FAM169B,IGF1R,LOC91948,LRRC28,LYSMD4,MEF2A,MIR1469,MIR4714,NR2F2,PGPEP1L,SPATA8,SYNM,TTC23 chr15 96658001 96663200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 96659347 96661576 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 96659844 96661376 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 96659848 96661328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 96711831 96736162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 96715701 96720200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 96717590 96718155 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 96717594 96718159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 96781501 96783000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 96783935 99643192 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ARRDC4,FAM169B,IGF1R,LOC91948,MIR1469,MIR4714,NR2F2,PGPEP1L,SPATA8 chr15 96797914 96846730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 96797914 96846730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 96800383 96841532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 96853399 96853499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 96857931 96891920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1469,NR2F2 chr15 96891354 97698742 Amplification Cancer Affymetrix 250K Sty array 20164920 SPATA8 chr15 96892792 96893792 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 96904664 96905664 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 96906227 96907227 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 96910513 96911513 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 96910635 96911635 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 96927135 97112802 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 96927135 97112802 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr15 96935631 96936631 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 96955824 96956824 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr1 59700000 74900000 Gain Chordoma Array CGH 21602918 AK4,ALG6,ANGPTL3,ANKRD13C,ATG4C,C1orf141,C1orf87,CACHD1,CTH,CYP2J2,DEPDC1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FGGY,FOXD3,FPGT,FPGT-TNNI3K,GADD45A,GNG12,GNG12-AS1,HHLA3,HOOK1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,LRRC40,LRRC7,LRRIQ3,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4711,MIR4794,NEGR1,NEGR1-IT1,NFIA,PDE4B,PGM1,PIN1P1,PTGER3,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SRSF11,TCTEX1D1,TM2D1,TNNI3K,UBE2U,USP1,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr15 97007643 97011339 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 97010283 97325282 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 97010283 97325282 Gain or loss Cancer - 20668451 NOT_FOUND chr15 97010283 97325282 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 97010283 97325282 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 97010283 97325282 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 97010283 97325282 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 97010302 97319034 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 97010302 97325282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97010302 97325282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97046858 97357047 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 SPATA8 chr15 97084323 97084404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97129396 97129465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97140443 97140543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97145439 97145539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97163294 97163370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97175493 100338915 Copy number Normal - 21701786 ARRDC4,DNM1P46,FAM169B,IGF1R,LOC91948,LRRC28,LYSMD4,MEF2A,MIR4714,PGPEP1L,SPATA8,SYNM,TTC23 chr1 5971835 5972303 Gain Normal 244K array 17666407 NPHP4 chr15 97257680 99984059 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARRDC4,FAM169B,IGF1R,LOC91948,LRRC28,MIR4714,PGPEP1L,SPATA8,SYNM,TTC23 chr15 97259159 97259259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97271356 97271921 Gain Normal 244K array 17666407 NOT_FOUND chr15 97271553 97272241 Gain Normal 244K array 17666407 NOT_FOUND chr15 97321004 97321245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97321146 97321246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97321228 97321424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97322035 97325281 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 97326536 97326601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97327166 97366314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA8 chr15 97328982 97368547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 97349771 97350168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 97363040 97364040 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 97388414 97389414 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 97388588 97389588 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 97390201 97394900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 59739138 59784013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FGGY chr15 97391984 97393190 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 97392006 97393131 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 97392250 97392985 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 97396758 97397758 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 97399748 97770838 Duplication Depressive disorder Perlegen 600K platform 21152026 NOT_FOUND chr1 5974001 6077000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNAB2,NPHP4 chr1 5974113 6083840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNAB2,NPHP4 chr1 5974113 6083840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNAB2,NPHP4 chr15 97418508 97418567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97438608 97471192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 97462771 97490786 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 97462929 97493293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97462929 97493293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97471323 100192115 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARRDC4,FAM169B,IGF1R,LOC91948,LRRC28,MEF2A,MIR4714,PGPEP1L,SYNM,TTC23 chr15 97472754 97472836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97474122 97474918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 97494050 97607338 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr15 97494051 97608945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97494051 97608945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97494052 97599290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 97506984 97507984 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 97609175 97744019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97609175 97744019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97609175 97748455 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 97616372 97617748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97621620 97621708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97706490 97706555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59775675 59775775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr15 97762001 97814000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 97770057 97770222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97770134 97770234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 97814001 97850500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 97850501 97853500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 97880502 97880616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 97911001 98265200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 97923712 98074131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97923712 98074131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 97923737 98071524 Gain or loss Breast cancer - 20668451 NOT_FOUND chr15 97923737 98071524 Gain or loss Cancer - 20668451 NOT_FOUND chr15 97923737 98071524 Gain or loss Lung cancer - 20668451 NOT_FOUND chr15 97923737 98071524 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr15 97923737 98071524 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr15 97923737 98071524 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr15 97923738 98074131 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98039514 98039605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98039516 98039605 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98039517 98039605 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98065792 98065892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 98073429 98091172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98081541 98082042 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 98085133 98091149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98085133 98091149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98085137 98091149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98087203 98095507 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr15 98091816 98574562 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARRDC4,LOC91948 chr15 98109447 98109533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98147883 98164655 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 98147884 98164655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98147884 98164655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98147884 98164655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98148936 98149129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98148936 98149129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98149271 98150645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98149271 98150645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98150025 98150107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98154501 98159000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 59815719 59820360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGGY chr15 98157425 98239518 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 98161303 98216230 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr15 98166667 98166755 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 59819319 59824956 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FGGY chr15 98203369 98317280 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LOC91948 chr15 98211579 98252586 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr1 59821225 59822225 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGGY chr15 98227031 98227917 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 98231041 98243453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 98231984 98242507 Loss Normal 244K array 17666407 NOT_FOUND chr15 98233849 98240784 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr15 98233849 98240784 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 98234184 98240762 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 98234185 98240758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 59825167 59825267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr15 98259206 98570150 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ARRDC4,LOC91948 chr15 98265201 100338915 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARRDC4,DNM1P46,FAM169B,IGF1R,LOC91948,LRRC28,LYSMD4,MEF2A,MIR4714,PGPEP1L,SYNM,TTC23 chr15 98266001 99422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARRDC4,FAM169B,IGF1R,LOC91948,MIR4714 chr15 98329165 98699706 Amplification or deletion Normal BAC aCGH 22315515 ARRDC4,LOC91948 chr15 98329165 98699706 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARRDC4,LOC91948 chr15 98329166 98699706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARRDC4,LOC91948 chr15 98329166 98699706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARRDC4,LOC91948 chr15 98331993 98699650 Gain and loss Pancreatic cancer SNP array 17952125 ARRDC4,LOC91948 chr15 98337666 98337736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC91948 chr15 98425395 98425469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 98431829 98431918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98431829 98431918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98450024 98461222 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 98460016 98460239 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 98461005 98478994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 98500000 102531392 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADAMTS17,ALDH1A3,ARRDC4,ASB7,CERS3,CHSY1,DDX11L9,DNM1P46,FAM138E,FAM169B,FLJ42289,IGF1R,LINS,LOC100507472,LRRC28,LRRK1,LYSMD4,MEF2A,MIR4714,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PGPEP1L,SNRPA1,SYNM,TARSL2,TM2D3,TTC23,VIMP,WASH3P chr15 98500000 102531392 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 ADAMTS17,ALDH1A3,ARRDC4,ASB7,CERS3,CHSY1,DDX11L9,DNM1P46,FAM138E,FAM169B,FLJ42289,IGF1R,LINS,LOC100507472,LRRC28,LRRK1,LYSMD4,MEF2A,MIR4714,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PGPEP1L,SNRPA1,SYNM,TARSL2,TM2D3,TTC23,VIMP,WASH3P chr15 98500000 102531392 Loss Breast cancer Microarray-based CGH 17133270 ADAMTS17,ALDH1A3,ARRDC4,ASB7,CERS3,CHSY1,DDX11L9,DNM1P46,FAM138E,FAM169B,FLJ42289,IGF1R,LINS,LOC100507472,LRRC28,LRRK1,LYSMD4,MEF2A,MIR4714,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PGPEP1L,SNRPA1,SYNM,TARSL2,TM2D3,TTC23,VIMP,WASH3P chr15 98500000 102531392 Loss Pilocytic astrocytoma Array CGH 18622384 ADAMTS17,ALDH1A3,ARRDC4,ASB7,CERS3,CHSY1,DDX11L9,DNM1P46,FAM138E,FAM169B,FLJ42289,IGF1R,LINS,LOC100507472,LRRC28,LRRK1,LYSMD4,MEF2A,MIR4714,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PGPEP1L,SNRPA1,SYNM,TARSL2,TM2D3,TTC23,VIMP,WASH3P chr15 98500000 102531392 Loss Pilomyxoid astrocytoma Array CGH 18622384 ADAMTS17,ALDH1A3,ARRDC4,ASB7,CERS3,CHSY1,DDX11L9,DNM1P46,FAM138E,FAM169B,FLJ42289,IGF1R,LINS,LOC100507472,LRRC28,LRRK1,LYSMD4,MEF2A,MIR4714,OR4F13P,OR4F15,OR4F4,OR4F6,PCSK6,PGPEP1L,SNRPA1,SYNM,TARSL2,TM2D3,TTC23,VIMP,WASH3P chr15 98504499 98510703 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARRDC4 chr15 98531957 98532208 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr15 98533636 98552812 Gain Normal 244K array 17666407 NOT_FOUND chr1 59854502 60323099 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 FGGY,HOOK1,MIR4711 chr15 98567987 98568087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 98581716 98581816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 98624129 98625129 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 98671445 98671786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 98677395 98678395 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 98695580 98696580 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 98700528 98701528 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 98702122 98766368 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr15 98702186 98707957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98702186 98707957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98706950 98707870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 59871771 59871871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr1 59871913 59872008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr15 98750210 98751210 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 98758122 98902448 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr15 98758123 98902448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98758123 98902448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98758124 98902448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 5987725 5988082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPHP4 chr15 98782378 98782472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 59878705 59879763 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FGGY chr1 59878833 59879683 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGGY chr15 98804709 98805709 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 98804766 98805766 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 98809823 98809889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 98856986 98857086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 98872838 98911283 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 98887659 98922862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr15 98905233 98906233 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 98909548 98909653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98909548 98909653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98911257 98916550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98912133 98916119 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 98918414 98918520 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98918414 98918520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98918415 98918519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98918942 98919942 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 98926957 98959902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 98926958 98959927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98926958 98959927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 98938601 98942100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr15 98960337 99007174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM169B chr15 98960337 99007174 Gain and loss Pancreatic cancer SNP array 17952125 FAM169B chr15 98960337 99007174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM169B chr15 98978241 98978332 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 98987695 98987795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM169B chr15 98996091 98996185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM169B chr15 98996109 98996183 Gain and loss Pancreatic cancer SNP array 17952125 FAM169B chr15 99017926 99017979 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 FAM169B chr15 99018522 99018584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM169B chr15 99036860 99036940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM169B chr15 99064049 99064152 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 99109415 100338915 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1041K arrays 21546498 DNM1P46,IGF1R,LRRC28,LYSMD4,MEF2A,MIR4714,PGPEP1L,SYNM,TTC23 chr15 99111813 99111913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 99136397 99136624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 99149458 100021943 Gain Prostate cancer Array CGH 18632612 IGF1R,LRRC28,MIR4714,PGPEP1L,SYNM,TTC23 chr15 99159011 99159893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 99159046 99159855 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr15 99159071 99159893 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr15 99159071 99159893 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr15 99194139 99788015 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 IGF1R,MIR4714,PGPEP1L,SYNM,TTC23 chr15 99202548 99202769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IGF1R chr15 99202584 99203584 Loss Renal cell carcinoma References 21215367 IGF1R chr15 99202645 99203645 Gain Renal cell carcinoma References 21215367 IGF1R chr15 99230688 99231688 Gain Renal cell carcinoma References 21215367 IGF1R chr15 99233236 99234236 Loss Renal cell carcinoma References 21215367 IGF1R chr15 99237580 99274349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF1R chr15 99237580 99274349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF1R chr15 99237580 99274351 Gain and loss Pancreatic cancer SNP array 17952125 IGF1R chr15 99242789 99258979 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IGF1R chr15 99270591 99270899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IGF1R chr15 99276983 99427838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF1R,MIR4714 chr15 99276983 99427838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF1R,MIR4714 chr15 99298613 99478425 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IGF1R,MIR4714 chr15 99303946 99304046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGF1R chr15 99340489 100206128 Deletion Breast cancer FISH 17142309 IGF1R,LRRC28,MEF2A,PGPEP1L,SYNM,TTC23 chr15 99346356 99368281 Gain and loss Pancreatic cancer SNP array 17952125 IGF1R chr15 99355030 99357509 Loss Normal 244K array 17666407 IGF1R chr15 99370521 99413484 Gain Normal 244K array 17666407 IGF1R chr15 99380195 99427834 Gain and loss Pancreatic cancer SNP array 17952125 IGF1R chr15 99401648 100338915 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1045K arrays 21546498 DNM1P46,IGF1R,LRRC28,LYSMD4,MEF2A,PGPEP1L,SYNM,TTC23 chr15 99410092 99410159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IGF1R chr15 99422001 99427000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGF1R chr15 99427001 99532500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGF1R,PGPEP1L chr15 99443865 99444171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IGF1R chr15 99450993 99451108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGF1R chr15 99488278 99488817 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IGF1R chr15 99502754 99502854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGF1R chr15 99509769 99544963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PGPEP1L chr15 99516196 99516290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGPEP1L chr15 99533456 99609660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGPEP1L chr15 99533456 99609660 Gain and loss Pancreatic cancer SNP array 17952125 PGPEP1L chr15 99533456 99609660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGPEP1L chr15 99535177 99535177 Copy number Prostate cancer Illumina GA II sequencer 21307934 PGPEP1L chr15 99536223 99708384 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 PGPEP1L,SYNM,TTC23 chr15 99550339 99734009 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PGPEP1L,SYNM,TTC23 chr15 99550339 99734009 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PGPEP1L,SYNM,TTC23 chr15 99561749 99561847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 99571026 99573934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr15 99598506 99716889 Gain Stenocardia MACArray Karyo 74K BAC-chips 21860640 SYNM,TTC23 chr15 99598506 99716889 Gain Vasospasm MACArray Karyo 74K BAC-chips 21860640 SYNM,TTC23 chr15 99607966 99611267 Loss Normal aCGH 21627829 NOT_FOUND chr15 99628737 99635223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 99628737 99635223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 99628737 99635223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 99639240 99652983 Gain and loss Pancreatic cancer SNP array 17952125 SYNM chr15 99639243 99652979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNM chr15 99639243 99652979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNM chr15 99651501 99665000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYNM chr15 99653473 99758817 Gain aortic dissecting aneurysms Array-CGH 22263138 SYNM,TTC23 chr15 99653473 99758817 Gain Stenocardia MACArray Karyo 73K BAC-chips 21860640 SYNM,TTC23 chr15 99653473 99758817 Gain Vasospasm MACArray Karyo 73K BAC-chips 21860640 SYNM,TTC23 chr15 99661655 99847710 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 LRRC28,SYNM,TTC23 chr15 99661657 99847396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC28,SYNM,TTC23 chr15 99661657 99847396 Gain and loss Pancreatic cancer SNP array 17952125 LRRC28,SYNM,TTC23 chr15 99661657 99847396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC28,SYNM,TTC23 chr15 99665001 99667500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYNM chr15 99667501 99898500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC28,SYNM,TTC23 chr15 99691942 99692171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC23 chr15 99707205 99872978 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LRRC28,TTC23 chr15 99717953 99718053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC23 chr15 99718209 99718388 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC23 chr15 99719064 99719119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC23 chr15 99719065 99719120 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC23 chr1 59974458 59974543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr15 99829490 99888142 Loss Normal Birdsuite, version 1.5.2 22087296 LRRC28 chr15 99842275 99843275 Loss Renal cell carcinoma References 21215367 LRRC28 chr15 99847429 100338915 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DNM1P46,LRRC28,LYSMD4,MEF2A chr15 99857924 100137265 Duplication Normal Affymetrix 6.0 microarrays 20967226 LRRC28,MEF2A chr15 99858059 100095059 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LRRC28 chr15 99858059 100095059 Copy number gain Normal High-resolution SNP genotyping 21211785 LRRC28 chr15 99893183 99893283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC28 chr15 99895728 99902178 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC28 chr15 99896472 99906112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC28 chr15 99898501 99900000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC28 chr15 99900001 99967500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC28 chr1 59992554 60050663 Gain and loss Pancreatic cancer SNP array 17952125 FGGY chr15 99934689 99935689 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 99942640 99942672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr15 99949359 99950359 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 99967501 99974000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr15 99973246 99974246 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 99973340 99974340 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr15 99982547 99983547 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr15 99999580 100010107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr15 99999580 100010117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr15 99999580 100010117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 60006335 61937724 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf87,CYP2J2,FGGY,HOOK1,MIR4711,NFIA chr1 600103 600426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 60013480 60013580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr1 60050000 61570000 Loss Breast cancer aCGH 21509527 C1orf87,CYP2J2,FGGY,HOOK1,MIR4711,NFIA chr1 60053121 60114637 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGGY chr1 60053121 60114637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGGY chr1 60053121 60114637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGGY chr1 60071002 60104483 Gain and loss Pancreatic cancer SNP array 17952125 FGGY chr1 60081647 60085454 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FGGY chr16 0 0 Gain Cervical cancer array CGH 21063398 NOT_FOUND chr16 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr1 60131571 60165050 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FGGY chr1 60131571 60165050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGGY chr1 60131571 60165050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGGY chr1 60133111 60133211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr1 60152450 60152747 Gain and loss Pancreatic cancer SNP array 17952125 FGGY chr1 60153413 60153627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGGY chr1 60168088 60251447 Gain and loss Pancreatic cancer SNP array 17952125 FGGY,MIR4711 chr1 60176418 60176629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGGY chr1 6020646 6094789 Deletion T-cell lymphomas Array-CGH 22341440 KCNAB2,NPHP4 chr1 6020646 6095505 Gain and loss Pancreatic cancer SNP array 17952125 KCNAB2,NPHP4 chr1 60213019 60213314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGGY chr1 60213684 60213764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr1 60228058 60228146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGGY chr1 60228385 60381631 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CYP2J2,FGGY,HOOK1 chr1 60228655 60312014 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HOOK1 chr1 60228655 60312014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOOK1 chr1 60228655 60312014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOOK1 chr1 60283431 60283522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOOK1 chr1 60312914 60313014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOOK1 chr1 60314420 60314520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOOK1 chr1 60332244 60332320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOOK1 chr1 60335670 60336232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOOK1 chr1 604268 3413395 Gain Breast cancer 244K CGH oligonucleotide microarrays 20932292 ACAP3,ACTRT2,AGRN,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100133331,LOC100133445,LOC100288069,LOC115110,LOC148413,LOC254099,LOC643837,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TTC34,TTLL10,UBE2J2,VWA1 chr1 604268 4312064 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 ACAP3,ACTRT2,AGRN,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CPSF3L,DFFB,DVL1,FAM132A,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LINC00115,LOC100129534,LOC100130417,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC643837,LOC728716,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WRAP73 chr1 60432988 60433088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 60470595 60470794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf87 chr1 60604489 60604589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 60626002 60626087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6062915 6063015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB2 chr1 60644879 61164926 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 60717190 60750626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 6077001 6089000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNAB2 chr1 60774747 60774797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 60833082 60834696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 6084440 6162770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHD5,KCNAB2 chr1 6084440 6162770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD5,KCNAB2 chr1 60888686 61041374 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 6089001 6156500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNAB2 chr1 60900000 68700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,CACHD1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,SERBP1,SGIP1,SLC35D1,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 60900000 68700000 Deletion CNS Malformation Syndrome aCGH 17530927 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,CACHD1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,SERBP1,SGIP1,SLC35D1,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 60900000 68700000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,CACHD1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,SERBP1,SGIP1,SLC35D1,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 60900000 68700000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,CACHD1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,SERBP1,SGIP1,SLC35D1,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 60900000 68700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,CACHD1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,SERBP1,SGIP1,SLC35D1,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 60900000 69500000 Gain Malignant fibrous histiocytomas aCGH 21085701 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,CACHD1,DEPDC1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 60900000 69500000 Gain Multiple myeloma CGH, FISH 16461302 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,CACHD1,DEPDC1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 60900000 84700000 Gain Type 2 diabetes References 21956041 ACADM,AK4,AK5,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf173,CACHD1,CRYZ,CTH,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DOCK7,EFCAB7,ELTD1,FAM73A,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GIPC2,GNG12,GNG12-AS1,HHLA3,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4794,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,NFIA,PDE4B,PGM1,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TCTEX1D1,TM2D1,TNNI3K,TTLL7,TYW3,UBE2U,USP1,USP33,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 60900000 84700000 In Renal cell carcinoma MCG Whole Genome Array-4500 21228928 ACADM,AK4,AK5,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf173,CACHD1,CRYZ,CTH,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DOCK7,EFCAB7,ELTD1,FAM73A,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GIPC2,GNG12,GNG12-AS1,HHLA3,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4794,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,NFIA,PDE4B,PGM1,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TCTEX1D1,TM2D1,TNNI3K,TTLL7,TYW3,UBE2U,USP1,USP33,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 60900000 84700000 Loss Cancer array-based techniques 21183584 ACADM,AK4,AK5,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf173,CACHD1,CRYZ,CTH,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DOCK7,EFCAB7,ELTD1,FAM73A,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GIPC2,GNG12,GNG12-AS1,HHLA3,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4794,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,NFIA,PDE4B,PGM1,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TCTEX1D1,TM2D1,TNNI3K,TTLL7,TYW3,UBE2U,USP1,USP33,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 60900000 84700000 Loss Non-small cell lung cancer - 21385341 ACADM,AK4,AK5,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf173,CACHD1,CRYZ,CTH,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DOCK7,EFCAB7,ELTD1,FAM73A,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GIPC2,GNG12,GNG12-AS1,HHLA3,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4794,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,NFIA,PDE4B,PGM1,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TCTEX1D1,TM2D1,TNNI3K,TTLL7,TYW3,UBE2U,USP1,USP33,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 60900000 84700000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ACADM,AK4,AK5,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf173,CACHD1,CRYZ,CTH,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DOCK7,EFCAB7,ELTD1,FAM73A,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GIPC2,GNG12,GNG12-AS1,HHLA3,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4794,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,NFIA,PDE4B,PGM1,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TCTEX1D1,TM2D1,TNNI3K,TTLL7,TYW3,UBE2U,USP1,USP33,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 60900000 94500000 Loss Glioblastoma multiforme conventional CGH 21080181 ABCA4,ACADM,AK4,AK5,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf141,C1orf146,C1orf173,C1orf180,C1orf52,CACHD1,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DR1,EFCAB7,ELTD1,EPHX4,EVI5,FAM69A,FAM73A,FLJ27354,FNBP1L,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG12,GNG12-AS1,GNG5,GTF2B,HFM1,HHLA3,HS2ST1,HSP90B3P,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,KIAA1107,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC646626,LPAR3,LPHN2,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4423,MIR4794,MIR548AP,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,NFIA,ODF2L,PDE4B,PGM1,PIGK,PIN1P1,PKN2,PRKACB,PTGER3,PTGFR,RABGGTB,RAVER2,RBMXL1,ROR1,RPAP2,RPE65,RPF1,RPL5,SAMD13,SEP15,SERBP1,SGIP1,SH3GLB1,SLC35D1,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TCTEX1D1,TGFBR3,TM2D1,TMED5,TNNI3K,TTLL7,TYW3,UBE2U,UOX,USP1,USP33,WDR63,WDR78,WLS,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 6096119 6174449 Deletion T-cell lymphomas Array-CGH 22341440 CHD5,KCNAB2 chr1 6096119 6174449 Gain and loss Pancreatic cancer SNP array 17952125 CHD5,KCNAB2 chr1 60984401 60984680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 6099266 6706585 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACOT7,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,MIR4252,NOL9,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr16 1000121 1010064 Gain and loss Pancreatic cancer SNP array 17952125 LMF1 chr16 10002439 10002539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2A chr16 10036596 10036696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2A chr16 1005835 1016114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMF1 chr16 1006772 1019532 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMF1 chr16 10112737 10114241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIN2A chr16 10112740 10114241 Gain and loss Pancreatic cancer SNP array 17952125 GRIN2A chr16 10153146 10153296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2A chr16 10159016 15681446 Gain Prostate cancer Array CGH 18632612 ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,GRIN2A,GSPT1,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MKL2,MPV17L,NOMO1,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10177528 10177593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2A chr16 10181001 10185000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRIN2A chr16 1020255 1040158 Gain and loss Pancreatic cancer SNP array 17952125 LMF1,SOX8 chr16 10223133 10223431 Gain and loss Pancreatic cancer SNP array 17952125 GRIN2A chr16 10223133 10223431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIN2A chr16 10266921 10267001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2A chr16 10269566 10269654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2A chr16 10269765 10269915 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRIN2A chr16 10297101 10524800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATF7IP2 chr16 10300000 12500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATF7IP2,BCAR4,CIITA,CLEC16A,DEXI,EMP2,FAM18A,GSPT1,LITAF,NUBP1,PRM1,PRM2,PRM3,RMI2,RSL1D1,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 12500000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ATF7IP2,BCAR4,CIITA,CLEC16A,DEXI,EMP2,FAM18A,GSPT1,LITAF,NUBP1,PRM1,PRM2,PRM3,RMI2,RSL1D1,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 12500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATF7IP2,BCAR4,CIITA,CLEC16A,DEXI,EMP2,FAM18A,GSPT1,LITAF,NUBP1,PRM1,PRM2,PRM3,RMI2,RSL1D1,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 12500000 Gain Lujan-Fryns syndrom Affymetrix Genome-Wide Human SNP 6.0 arrays 21521776 ATF7IP2,BCAR4,CIITA,CLEC16A,DEXI,EMP2,FAM18A,GSPT1,LITAF,NUBP1,PRM1,PRM2,PRM3,RMI2,RSL1D1,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 16700000 Duplication and perhaps deletion Autism SNP 6.1 Array 19786961 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 16700000 Duplication and perhaps deletion Mental retardation SNP 6.1 Array 19786961 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 16700000 Duplication and perhaps deletion Schizophrenia SNP 6.1 Array 19786961 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 16700000 Duplication or deletion Mental retardation References 19951919 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 16700000 Duplication Schizophrenia - 20587603 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 16700000 Duplication Schizophrenia References 20553308 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 16700000 Duplications,deletions Autism CGH 18791038 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 16700000 Gain Splenic marginal zone lymphoma 44k aCGH 18492102 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10300000 20500000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM2A,ACSM5,ARL6IP1,ATF7IP2,BCAR4,BFAR,C16orf45,C16orf62,C16orf88,CCP110,CIITA,CLEC16A,CLEC19A,COQ7,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GDE1,GP2,GPR139,GPRC5B,GSPT1,IQCK,ITPRIPL2,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO2,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDILT,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RPS15A,RRN3,RSL1D1,SHISA9,SMG1,SNN,SNX29,SOCS1,SYT17,TEKT5,TMC5,TMC7,TNFRSF17,TNP2,TXNDC11,UMOD,XYLT1,ZC3H7A chr16 10300000 21700000 Gain Prostate cancer Array CGH 16573809 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,ARL6IP1,ATF7IP2,BCAR4,BFAR,C16orf45,C16orf62,C16orf88,CCP110,CIITA,CLEC16A,CLEC19A,COQ7,CPPED1,CRYM,CRYM-AS1,DCUN1D3,DEXI,DNAH3,EMP2,ERCC4,ERI2,FAM18A,FOPNL,GDE1,GP2,GPR139,GPRC5B,GSPT1,IGSF6,IQCK,ITPRIPL2,KIAA0430,LITAF,LOC100190986,LOC100271836,LOC81691,LYRM1,METTL9,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NTAN1,NUBP1,OTOA,PARN,PDILT,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RPS15A,RRN3,RSL1D1,SHISA9,SLC7A5P2,SMG1,SNN,SNX29,SNX29P1,SOCS1,SYT17,TEKT5,THUMPD1,TMC5,TMC7,TMEM159,TNFRSF17,TNP2,TXNDC11,UMOD,XYLT1,ZC3H7A,ZP2 chr16 10300000 27600000 Loss Malignant germ cell tumour CGH microscopy 17285132 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,AQP8,ARHGAP17,ARL6IP1,ATF7IP2,BCAR4,BFAR,C16orf45,C16orf52,C16orf62,C16orf82,C16orf88,CACNG3,CCP110,CDR2,CHP2,CIITA,CLEC16A,CLEC19A,COG7,COQ7,CPPED1,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DEXI,DNAH3,EARS2,EEF2K,EMP2,ERCC4,ERI2,ERN2,FAM18A,FLJ21408,FOPNL,GDE1,GGA2,GP2,GPR139,GPRC5B,GSPT1,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL4R,IQCK,ITPRIPL2,KDM8,KIAA0430,KIAA0556,LCMT1,LITAF,LOC100132247,LOC100190986,LOC100271836,LOC100506655,LOC554206,LOC653786,LOC81691,LYRM1,METTL9,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MIR548AA2,MIR548D2,MKL2,MPV17L,MYH11,NDE1,NDUFAB1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,NUBP1,OTOA,PALB2,PARN,PDILT,PDXDC1,PDZD9,PKD1P1,PLA2G10,PLK1,POLR3E,PRKCB,PRM1,PRM2,PRM3,RBBP6,RMI2,RPS15A,RRN3,RRN3P1,RRN3P3,RSL1D1,SCNN1B,SCNN1G,SHISA9,SLC5A11,SLC7A5P2,SMG1,SMG1P1,SNN,SNX29,SNX29P1,SOCS1,SYT17,TEKT5,THUMPD1,TMC5,TMC7,TMEM159,TNFRSF17,TNP2,TNRC6A,TXNDC11,UBFD1,UMOD,UQCRC2,USP31,VWA3A,XYLT1,ZC3H7A,ZKSCAN2,ZP2 chr16 10300000 38200000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,AHSP,ALDOA,ANKS4B,APOBR,AQP8,ARHGAP17,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATXN2L,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf45,C16orf52,C16orf53,C16orf54,C16orf58,C16orf62,C16orf82,C16orf88,C16orf92,C16orf93,CACNG3,CCDC101,CCP110,CD19,CD2BP2,CDIPT,CDR2,CHP2,CIITA,CLEC16A,CLEC19A,CLN3,COG7,COQ7,CORO1A,COX6A2,CPPED1,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DEXI,DNAH3,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,EMP2,ERCC4,ERI2,ERN2,FAM18A,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FOPNL,FUS,GDE1,GDPD3,GGA2,GP2,GPR139,GPRC5B,GSG1L,GSPT1,GTF3C1,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,INO80E,IQCK,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,KAT8,KCTD13,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LITAF,LOC100130700,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC729264,LOC730183,LOC81691,LYRM1,MAPK3,MAZ,METTL9,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4517,MIR4518,MIR4519,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR762,MKL2,MPV17L,MVP,MYH11,MYLPF,NDE1,NDUFAB1,NFATC2IP,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,NUBP1,NUPR1,ORAI3,OTOA,PALB2,PARN,PDILT,PDXDC1,PDZD9,PHKG2,PKD1P1,PLA2G10,PLK1,POLR3E,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RMI2,RNA5SP411,RNF40,RNU6-76,RPS15A,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1,SMG1P1,SNN,SNORA30,SNX29,SNX29P1,SNX29P2,SOCS1,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYT17,TAOK2,TBC1D10B,TBX6,TEKT5,TGFB1I1,THUMPD1,TMC5,TMC7,TMEM159,TMEM219,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,TXNDC11,UBE2MP1,UBFD1,UMOD,UQCRC2,USP31,VKORC1,VWA3A,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2 chr16 10315703 10349558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 10330886 10330921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1033226 1033716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX8 chr16 1033235 1033681 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX8 chr16 10341895 10341965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 10373595 10761730 Copy number Gastric cancer Human cDNA microarrays 17229543 ATF7IP2,EMP2,TEKT5 chr16 10373595 10761730 Deletion Intellectual disability 100k SNP Array 21811512 ATF7IP2,EMP2,TEKT5 chr16 10387413 10484996 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATF7IP2 chr16 10387413 10484996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP2 chr16 10387413 10484996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP2 chr16 10430225 10484996 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ATF7IP2 chr16 10430226 10484996 Deletion T-cell lymphomas Array-CGH 22341440 ATF7IP2 chr16 10431957 10484995 Gain and loss Pancreatic cancer SNP array 17952125 ATF7IP2 chr16 10497630 10497732 Gain and loss Pancreatic cancer SNP array 17952125 ATF7IP2 chr16 10497630 10497732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP2 chr16 10500000 16800000 Deletion or amplification Autism Array CGH 17480035 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10500000 16800000 Deletion or duplication Schizophrenia Array CGH 19955444 ABCC1,ABCC6,ABCC6P2,ATF7IP2,BCAR4,BFAR,C16orf45,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 10500000 21200000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ARL6IP1,ATF7IP2,BCAR4,BFAR,C16orf45,C16orf62,C16orf88,CCP110,CIITA,CLEC16A,CLEC19A,COQ7,CPPED1,DCUN1D3,DEXI,DNAH3,EMP2,ERCC4,ERI2,FAM18A,FOPNL,GDE1,GP2,GPR139,GPRC5B,GSPT1,IQCK,ITPRIPL2,KIAA0430,LITAF,LOC81691,LYRM1,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO2,NOMO3,NPIP,NTAN1,NUBP1,PARN,PDILT,PDXDC1,PKD1P1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RPS15A,RRN3,RSL1D1,SHISA9,SMG1,SNN,SNX29,SOCS1,SYT17,TEKT5,THUMPD1,TMC5,TMC7,TMEM159,TNFRSF17,TNP2,TXNDC11,UMOD,XYLT1,ZC3H7A chr16 10524801 11562100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATF7IP2,CIITA,CLEC16A,DEXI,EMP2,FAM18A,NUBP1,PRM1,PRM2,PRM3,RMI2,SOCS1,TEKT5,TNP2 chr16 10529936 10534118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATF7IP2 chr16 10529936 10534118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP2 chr16 10529936 10582040 Gain and loss Pancreatic cancer SNP array 17952125 ATF7IP2 chr16 10533476 10582040 Deletion T-cell lymphomas Array-CGH 22341440 ATF7IP2 chr16 10533550 10582040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATF7IP2 chr16 10533550 10582040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP2 chr16 10533550 10582040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATF7IP2 chr16 1055300 1056350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1055300 1056350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 10556424 11442611 LOH Normal High-resolution SNP genotyping 21211785 ATF7IP2,CIITA,CLEC16A,DEXI,EMP2,FAM18A,NUBP1,PRM1,PRM2,PRM3,RMI2,SOCS1,TEKT5,TNP2 chr16 1056818 1056916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 10568501 10907500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATF7IP2,EMP2,FAM18A,NUBP1,TEKT5 chr16 1062757 1071438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1062757 1071438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 10628862 10696303 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EMP2 chr16 10628862 10696303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMP2 chr16 10628862 10696303 Deletion T-cell lymphomas Array-CGH 22341440 EMP2 chr16 10628862 10696303 Gain and loss Pancreatic cancer SNP array 17952125 EMP2 chr16 10628862 10696303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMP2 chr16 1063384 1063478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 10647794 11795463 Gain Bladder cancer array-CGH 21909424 CIITA,CLEC16A,DEXI,EMP2,FAM18A,LITAF,NUBP1,PRM1,PRM2,PRM3,RMI2,SNN,SOCS1,TEKT5,TNP2,TXNDC11 chr16 10678574 10679090 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 1068869 1069964 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 1068869 1069964 Gain or loss Cancer - 20668451 NOT_FOUND chr16 1068869 1069964 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 1068869 1069964 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 1068869 1069964 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 1068869 1069964 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 1068870 1069964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 10719847 10719914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 10719847 10719914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 10721125 10721193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 10721125 10721193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 10722853 10722923 Gain and loss Pancreatic cancer SNP array 17952125 TEKT5 chr16 10722853 10722923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT5 chr16 10722924 10722982 Gain and loss Pancreatic cancer SNP array 17952125 TEKT5 chr16 10722924 10722982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT5 chr16 10722983 10723051 Gain and loss Pancreatic cancer SNP array 17952125 TEKT5 chr16 10722983 10723051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT5 chr16 10724714 10724780 Gain and loss Pancreatic cancer SNP array 17952125 TEKT5 chr16 10724714 10724780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT5 chr16 10745199 10770709 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TEKT5 chr16 10745199 10770709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEKT5 chr16 10745199 10770709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT5 chr16 10745218 10770709 Deletion T-cell lymphomas Array-CGH 22341440 TEKT5 chr16 10745218 10770709 Gain and loss Pancreatic cancer SNP array 17952125 TEKT5 chr16 10762277 10820122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TEKT5 chr16 10768034 10819570 Gain and loss Pancreatic cancer SNP array 17952125 TEKT5 chr16 10768034 10820122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT5 chr16 10771851 10920235 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 FAM18A,NUBP1,TEKT5 chr16 10775023 10775613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TEKT5 chr16 1078227 1086245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1078227 1086245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 10785388 10785446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEKT5 chr16 10827940 10839124 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NUBP1 chr16 10832606 10833139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 1083502 1084923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 6108425 6108425 Copy number Prostate cancer Illumina GA II sequencer 21307934 KCNAB2 chr16 10842659 11368140 LOH Normal High-resolution SNP genotyping 21211785 CIITA,CLEC16A,DEXI,FAM18A,NUBP1,PRM3,SOCS1,TNP2 chr16 10867648 10867929 Gain and loss Pancreatic cancer SNP array 17952125 FAM18A chr16 10867648 10926340 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM18A chr16 10867648 10926341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM18A chr16 10867648 10926341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM18A chr16 1086812 1100696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 10878562 10933676 Deletion T-cell lymphomas Array-CGH 22341440 FAM18A chr16 10878566 10925795 Gain and loss Pancreatic cancer SNP array 17952125 FAM18A chr16 10900000 12000000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 BCAR4,CIITA,CLEC16A,DEXI,FAM18A,GSPT1,LITAF,PRM1,PRM2,PRM3,RMI2,RSL1D1,SNN,SOCS1,TNP2,TXNDC11,ZC3H7A chr16 10907501 10909500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM18A chr16 10909501 11179500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CIITA,CLEC16A,DEXI,FAM18A chr16 10911039 10930159 Copy number loss Normal High-resolution SNP genotyping 21211785 FAM18A chr16 10930251 10943758 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 10930251 10943758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 10930278 10943817 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 10930278 10943817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 10930278 10943817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 10937470 10992607 Amplification or deletion Cancer Array CGH 17440070 CIITA chr16 10945846 11183547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIITA,CLEC16A,DEXI chr16 10945846 11183547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIITA,CLEC16A,DEXI chr16 10945943 11183527 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CIITA,CLEC16A,DEXI chr16 10945943 11183539 Gain and loss Pancreatic cancer SNP array 17952125 CIITA,CLEC16A,DEXI chr16 10956378 10956478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 610959 611897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 610959 611897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1 10000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ABAT,ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR548X,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PMM2,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 11014208 11349113 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CIITA,CLEC16A,DEXI,SOCS1 chr16 11015177 11015277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CIITA chr16 1 10300000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABAT,ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR548X,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PMM2,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 10300000 Loss Glioblastoma multiforme aCGH 21080181 ABAT,ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR548X,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PMM2,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 10300000 Loss Glioblastoma multiforme conventional CGH 21080181 ABAT,ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR548X,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PMM2,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr1 61103519 61694617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFIA chr1 61103519 61694617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIA chr16 1 10500000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ABAT,ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR548X,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PMM2,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 11060126 11060226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC16A chr16 11066504 11066604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC16A chr16 1 10714207 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABAT,ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,EMP2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR548X,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PMM2,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 11086399 11086525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC16A chr16 11109793 11109893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC16A chr16 11179501 11215500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC16A chr16 11194697 16121418 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCC1,ABCC6P2,BCAR4,BFAR,C16orf45,CLEC16A,CPPED1,ERCC4,FOPNL,GSPT1,KIAA0430,LITAF,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10,PRM1,PRM2,PRM3,RMI2,RRN3,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TNFRSF17,TNP2,TXNDC11,ZC3H7A chr16 11215501 11385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC16A,PRM1,PRM2,PRM3,SOCS1,TNP2 chr16 11244008 11244910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC16A chr16 11244011 11244910 Gain and loss Pancreatic cancer SNP array 17952125 CLEC16A chr16 11255774 11257540 Gain or loss Breast cancer - 20668451 CLEC16A chr16 11255774 11257540 Gain or loss Cancer - 20668451 CLEC16A chr16 11255774 11257540 Gain or loss Lung cancer - 20668451 CLEC16A chr16 11255774 11257540 Gain or loss Ovarian cancer - 20668451 CLEC16A chr16 11255774 11257540 Gain or loss Pancreas cancer - 20668451 CLEC16A chr16 11255774 11257540 Gain or loss Prostate cancer - 20668451 CLEC16A chr16 11255775 11257540 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLEC16A chr16 11255775 11257540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC16A chr16 11255775 11257540 Deletion T-cell lymphomas Array-CGH 22341440 CLEC16A chr16 11255775 11257540 Gain and loss Pancreatic cancer SNP array 17952125 CLEC16A chr16 11255775 11257540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC16A chr16 11260176 11260240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLEC16A chr16 11269215 11270661 Deletion T-cell lymphomas Array-CGH 22341440 CLEC16A chr16 11270219 11270620 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLEC16A chr16 11270219 11270620 Gain and loss Pancreatic cancer SNP array 17952125 CLEC16A chr16 11270219 11270620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC16A chr16 11274645 11274953 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLEC16A chr16 11274645 11274953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC16A chr16 11274645 11274953 Gain and loss Pancreatic cancer SNP array 17952125 CLEC16A chr16 11274645 11274953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC16A chr16 11275471 11275594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC16A chr16 11275476 11275591 Gain and loss Pancreatic cancer SNP array 17952125 CLEC16A chr16 11276994 11277838 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 11276994 11277838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11276994 11277838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11276998 11277809 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 11276998 11277838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11282199 11282708 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 11282199 11282708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11282199 11282708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11282200 11282691 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1128327 1128396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSTR5,SSTR5-AS1 chr16 11291877 11291969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 11294572 11294670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11294572 11294670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11299332 11301425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 11307798 11307885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11316425 11316533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11316425 11316534 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11316425 11316536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11318137 11353118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOCS1 chr16 11318137 11353118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOCS1 chr16 11318137 11353118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOCS1 chr16 11346395 11346495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 11346807 11353121 Gain and loss Pancreatic cancer SNP array 17952125 SOCS1 chr16 11350990 11351080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 11376468 11376932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 11385001 11426500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 11386275 11406724 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 11387410 11407666 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 11426501 11666500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LITAF,RMI2 chr16 1143739 1211611 Gain and loss Pancreatic cancer SNP array 17952125 C1QTNF8,CACNA1H chr16 1143739 1211772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF8,CACNA1H chr16 1143739 1211772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF8,CACNA1H chr16 11443548 11493112 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RMI2 chr16 11443548 11493112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RMI2 chr16 11443548 11493112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RMI2 chr16 11447907 11463663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11450918 11451000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 11511244 11512524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 1152524 1313594 Duplication Normal Affymetrix 6.0 microarrays 20967226 CACNA1H,TPSAB1,TPSB2,TPSD1,TPSG1 chr16 11549356 11588823 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 NOT_FOUND chr16 11549357 11587730 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 11549357 11588289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11549357 11588289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11549357 11588823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11562101 11789800 Copy number Normal ReadDepth: A Parallel R Package 21305028 LITAF,SNN,TXNDC11 chr16 11565952 11566024 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11565952 11566024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11589301 11594400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 11591235 11592795 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 11591538 11592052 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 1163769 1163834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 11666501 11676500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LITAF chr16 11669802 11680507 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LITAF chr16 11669802 11680507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LITAF chr16 11669802 11680507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LITAF chr16 1 16700000 Gain Cancer array-based techniques 21183584 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P2,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,BCAR4,BFAR,C16orf11,C16orf13,C16orf45,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLUAP1,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,DDX11L10,DECR2,DEXI,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,EMP2,ERCC4,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,GSPT1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KIAA0430,KREMEN2,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4717,MIR4718,MIR484,MIR548X,MIR5587,MIR662,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO3,NOXO1,NPIP,NPRL3,NPW,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PARN,PDIA2,PDPK1,PDXDC1,PGP,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PMM2,POLR3K,PPL,PRM1,PRM2,PRM3,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,RRN3,RSL1D1,SEC14L5,SEPT12,SHISA9,SLC9A3R2,SLX4,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SOCS1,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,TXNDC11,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZC3H7A,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 16700000 Gain Follicular lymphoma aCGH 20505157 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P2,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,BCAR4,BFAR,C16orf11,C16orf13,C16orf45,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLUAP1,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,DDX11L10,DECR2,DEXI,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,EMP2,ERCC4,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,GSPT1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KIAA0430,KREMEN2,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4717,MIR4718,MIR484,MIR548X,MIR5587,MIR662,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO3,NOXO1,NPIP,NPRL3,NPW,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PARN,PDIA2,PDPK1,PDXDC1,PGP,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PMM2,POLR3K,PPL,PRM1,PRM2,PRM3,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,RRN3,RSL1D1,SEC14L5,SEPT12,SHISA9,SLC9A3R2,SLX4,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SOCS1,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,TXNDC11,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZC3H7A,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 11676501 11681000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LITAF chr16 11677331 11680511 Gain and loss Pancreatic cancer SNP array 17952125 LITAF chr16 11680444 11744149 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LITAF chr16 11680444 11744149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LITAF chr16 11680444 11744149 Gain and loss Pancreatic cancer SNP array 17952125 LITAF chr16 11680444 11744149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LITAF chr16 11685919 11699876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 1170465 1170520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 11730000 19200000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ARL6IP1,BCAR4,BFAR,C16orf45,COQ7,CPPED1,ERCC4,FOPNL,GSPT1,ITPRIPL2,KIAA0430,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NOMO2,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RPS15A,RRN3,RSL1D1,SHISA9,SMG1,SNN,SNX29,SYT17,TMC7,TNFRSF17,TXNDC11,XYLT1,ZC3H7A chr16 11743915 11744529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11751944 11798508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNN,TXNDC11 chr16 11751944 11798508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNN,TXNDC11 chr16 11751944 11798508 Gain and loss Pancreatic cancer SNP array 17952125 SNN,TXNDC11 chr16 11751944 11798508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNN,TXNDC11 chr16 11760875 11760910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 11773510 11775197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TXNDC11 chr16 11787439 11787539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TXNDC11 chr16 11835554 11852943 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TXNDC11,ZC3H7A chr16 11835554 11852943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TXNDC11,ZC3H7A chr16 11835554 11852943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TXNDC11,ZC3H7A chr16 11838698 11839457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 11838709 11838939 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 11838709 11838939 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 11838712 11852896 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H7A chr16 11852501 11853500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZC3H7A chr16 11853501 12262000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAR4,GSPT1,RSL1D1,SNX29,TNFRSF17,ZC3H7A chr16 1185369 1185438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 11865978 11866172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H7A chr16 11874040 11917309 Gain and loss Pancreatic cancer SNP array 17952125 BCAR4,ZC3H7A chr16 11874040 11917313 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCAR4,ZC3H7A chr16 11874040 11917313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR4,ZC3H7A chr16 11894464 11939098 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCAR4,RSL1D1 chr16 11905583 12263509 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 BCAR4,GSPT1,RSL1D1,SNX29,TNFRSF17 chr16 11922000 11949843 Duplication Non-syndromic sensorineural hearing loss References 19212409 BCAR4,RSL1D1 chr16 11928956 11939026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RSL1D1 chr16 11966464 11969426 Gain or loss Breast cancer - 20668451 GSPT1 chr16 11966464 11969426 Gain or loss Cancer - 20668451 GSPT1 chr16 11966464 11969426 Gain or loss Lung cancer - 20668451 GSPT1 chr16 11966464 11969426 Gain or loss Ovarian cancer - 20668451 GSPT1 chr16 11966464 11969426 Gain or loss Pancreas cancer - 20668451 GSPT1 chr16 11966464 11969426 Gain or loss Prostate cancer - 20668451 GSPT1 chr16 11966465 11969426 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GSPT1 chr16 11966465 11969426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSPT1 chr16 11966465 11969426 Gain and loss Pancreatic cancer SNP array 17952125 GSPT1 chr16 11966465 11969426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSPT1 chr16 11966901 12144000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GSPT1,SNX29,TNFRSF17 chr16 11967554 11969114 Gain and loss Pancreatic cancer SNP array 17952125 GSPT1 chr16 11978102 12054642 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GSPT1 chr16 11978103 12054642 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GSPT1 chr16 11978103 12054642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSPT1 chr16 11978103 12054642 Gain and loss Pancreatic cancer SNP array 17952125 GSPT1 chr16 11978103 12054642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSPT1 chr16 1202470 1202545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 12025398 12028360 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr16 12053556 12575646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX29,TNFRSF17 chr16 12053556 12575646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29,TNFRSF17 chr16 12065401 13927883 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPPED1,MIR4718,SHISA9,SNX29 chr1 61207276 61207376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 12080192 12574366 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX29 chr16 12080192 12574366 Gain and loss Pancreatic cancer SNP array 17952125 SNX29 chr16 12088110 12091660 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX29 chr16 12088110 12091660 Gain and loss Pancreatic cancer SNP array 17952125 SNX29 chr16 12088110 12091660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29 chr16 12100063 35843070 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,AHSP,ALDOA,ANKS4B,APOBR,AQP8,ARHGAP17,ARL6IP1,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf45,C16orf52,C16orf53,C16orf54,C16orf58,C16orf62,C16orf82,C16orf88,C16orf92,C16orf93,CACNG3,CCDC101,CCP110,CD19,CD2BP2,CDIPT,CDR2,CHP2,CLEC19A,CLN3,COG7,COQ7,CORO1A,COX6A2,CPPED1,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DNAH3,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,ERCC4,ERI2,ERN2,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FOPNL,FUS,GDE1,GDPD3,GGA2,GP2,GPR139,GPRC5B,GSG1L,GTF3C1,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,INO80E,IQCK,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,KAT8,KCTD13,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LOC100130700,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC729264,LOC730183,LOC81691,LYRM1,MAPK3,MAZ,METTL9,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4517,MIR4518,MIR4519,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR762,MKL2,MPV17L,MVP,MYH11,MYLPF,NDE1,NDUFAB1,NFATC2IP,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,NUPR1,ORAI3,OTOA,PALB2,PARN,PDILT,PDXDC1,PDZD9,PHKG2,PKD1P1,PLA2G10,PLK1,POLR3E,PPP4C,PRKCB,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RNA5SP411,RNF40,RNU6-76,RPS15A,RRN3,RRN3P1,RRN3P2,RRN3P3,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1,SMG1P1,SNORA30,SNX29,SNX29P1,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYT17,TAOK2,TBC1D10B,TBX6,TGFB1I1,THUMPD1,TMC5,TMC7,TMEM159,TMEM219,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,UBFD1,UMOD,UQCRC2,USP31,VKORC1,VWA3A,XPO6,XYLT1,YPEL3,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2 chr16 12106907 12107007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX29 chr16 1211617 1211717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1H chr16 1211659 1215257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1H chr16 1211659 1215257 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1H chr16 1211659 1215257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1H chr16 1 21200000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ARL6IP1,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,BCAR4,BFAR,C16orf11,C16orf13,C16orf45,C16orf5,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf88,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CEMP1,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLUAP1,COQ7,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,EMP2,ERCC4,ERI2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GDE1,GFER,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSPT1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,IQCK,ITFG3,ITPRIPL2,JMJD8,KCTD5,KIAA0430,KREMEN2,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LOC81691,LUC7L,LYRM1,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4717,MIR4718,MIR484,MIR548X,MIR5587,MIR662,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPRL3,NPW,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PGP,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PMM2,POLR3K,PPL,PRM1,PRM2,PRM3,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RSL1D1,SEC14L5,SEPT12,SHISA9,SLC9A3R2,SLX4,SMG1,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SOCS1,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,SYT17,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,TXNDC11,UBE2I,UBN1,UMOD,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,XYLT1,ZC3H7A,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 12144001 12624700 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNX29 chr16 1218094 1253590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1H chr16 1218337 1220186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1H chr16 1218338 1220186 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1H chr16 12204342 12205019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX29 chr16 12204342 12205019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29 chr16 12225881 12225973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX29 chr16 12251284 12251364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX29 chr16 1225771 1225830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1H chr16 12262001 12263500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNX29 chr16 12263501 12908000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CPPED1,MIR4718,SNX29 chr1 61228580 61228653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 12297141 12297219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX29 chr16 1230679 1232555 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1H chr16 1230679 1232556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1H chr16 1230679 1232556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1H chr16 12354761 12354870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNX29 chr16 12357279 13489807 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPPED1,MIR4718,SHISA9,SNX29 chr16 12385308 12430208 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNX29 chr16 1 24200000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,ALG1,AMDHD2,ANKS3,ANKS4B,ARHGDIG,ARL6IP1,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,BCAR4,BFAR,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf88,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLUAP1,COG7,COQ7,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,E4F1,EARS2,ECI1,EEF2K,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GDE1,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSPT1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST2,HS3ST6,IFT140,IGFALS,IGSF6,IL32,IQCK,ITFG3,ITPRIPL2,JMJD8,KCTD5,KIAA0430,KREMEN2,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100507501,LOC440335,LOC652276,LOC653786,LOC81691,LUC7L,LYRM1,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4717,MIR4718,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PRKCB,PRM1,PRM2,PRM3,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P3,RSL1D1,SCNN1B,SCNN1G,SEC14L5,SEPT12,SHISA9,SLC7A5P2,SLC9A3R2,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SOCS1,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,SYT17,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VWA3A,WDR24,WDR90,WFIKKN1,XYLT1,ZC3H7A,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZP2,ZSCAN10 chr16 1 24200000 Gain Prostate cancer Array CGH 16573809 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,ALG1,AMDHD2,ANKS3,ANKS4B,ARHGDIG,ARL6IP1,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,BCAR4,BFAR,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf88,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLUAP1,COG7,COQ7,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,E4F1,EARS2,ECI1,EEF2K,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GDE1,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSPT1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST2,HS3ST6,IFT140,IGFALS,IGSF6,IL32,IQCK,ITFG3,ITPRIPL2,JMJD8,KCTD5,KIAA0430,KREMEN2,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100507501,LOC440335,LOC652276,LOC653786,LOC81691,LUC7L,LYRM1,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4717,MIR4718,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PRKCB,PRM1,PRM2,PRM3,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P3,RSL1D1,SCNN1B,SCNN1G,SEC14L5,SEPT12,SHISA9,SLC7A5P2,SLC9A3R2,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SOCS1,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,SYT17,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VWA3A,WDR24,WDR90,WFIKKN1,XYLT1,ZC3H7A,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZP2,ZSCAN10 chr16 1246061 1248610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1H chr16 1246061 1248610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1H chr16 1246274 1248495 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1H chr16 1247044 1266749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1H chr16 1247324 1914504 LOH Normal High-resolution SNP genotyping 21211785 BAIAP3,C16orf91,CACNA1H,CCDC154,CLCN7,CRAMP1L,EME2,FAHD1,GNPTG,HAGH,HN1L,IFT140,IGFALS,MAPK8IP3,MEIOB,MIR3177,MRPS34,NME3,NUBP2,PTX4,SPSB3,TELO2,TMEM204,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL chr16 12487328 12487428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX29 chr16 12500000 14700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CPPED1,ERCC4,MIR193B,MIR365A,MIR4718,MKL2,PARN,SHISA9,SNX29 chr16 12500000 14700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CPPED1,ERCC4,MIR193B,MIR365A,MIR4718,MKL2,PARN,SHISA9,SNX29 chr16 12511070 12511170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX29 chr16 1251423 1252961 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1H chr16 1254695 1255151 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 CACNA1H chr1 6125531 6170409 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHD5,KCNAB2 chr16 1256001 1320000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1H,TPSAB1,TPSB2,TPSD1,TPSG1 chr16 12600000 14800000 Loss Mental retardation Array CGH 17847001 BFAR,CPPED1,ERCC4,MIR193B,MIR365A,MIR4718,MKL2,PARN,PLA2G10,SHISA9,SNX29 chr1 61260001 61634062 Gain and loss Pancreatic cancer SNP array 17952125 NFIA chr16 1260594 1290187 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CACNA1H,TPSB2,TPSG1 chr16 1260595 1289930 Gain Normal Birdsuite, version 1.5.2 22087296 CACNA1H,TPSB2,TPSG1 chr16 12607660 12614014 Loss Normal Birdsuite, version 1.5.2 22087296 SNX29 chr16 12624701 15078800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC6P2,BFAR,CPPED1,ERCC4,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR365A,MIR4718,MKL2,NOMO1,NPIP,PARN,PDXDC1,PLA2G10,SHISA9,SNX29 chr16 1263078 1263178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1H chr16 12661158 12805245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPPED1,SNX29 chr16 12661158 12805245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPPED1,SNX29 chr16 12664438 12805229 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPPED1,SNX29 chr16 12664438 12805229 Gain and loss Pancreatic cancer SNP array 17952125 CPPED1,SNX29 chr16 12709070 12709155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 12715517 12715617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1 27600000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,ALG1,AMDHD2,ANKS3,ANKS4B,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,BCAR4,BFAR,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLUAP1,COG7,COQ7,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,E4F1,EARS2,ECI1,EEF2K,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM86A,FBXL16,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GDE1,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL32,IL4R,IQCK,ITFG3,ITPRIPL2,JMJD8,KCTD5,KDM8,KIAA0430,KIAA0556,KREMEN2,LCMT1,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100506655,LOC100507501,LOC440335,LOC554206,LOC652276,LOC653786,LOC81691,LUC7L,LYRM1,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4717,MIR4718,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PRKCB,PRM1,PRM2,PRM3,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P3,RSL1D1,SCNN1B,SCNN1G,SEC14L5,SEPT12,SHISA9,SLC5A11,SLC7A5P2,SLC9A3R2,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SOCS1,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,SYT17,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VWA3A,WDR24,WDR90,WFIKKN1,XYLT1,ZC3H7A,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZP2,ZSCAN10 chr16 12771677 12771677 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 CPPED1 chr16 12771677 12771677 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 CPPED1 chr16 1279823 1279966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPSB2 chr16 1280070 1291438 Gain and loss Pancreatic cancer SNP array 17952125 TPSAB1,TPSB2 chr16 12843845 12843967 Gain and loss Pancreatic cancer SNP array 17952125 CPPED1 chr16 12843845 12843968 Gain and loss Pancreatic cancer SNP array 17952125 CPPED1 chr16 12843845 12843968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPPED1 chr16 12903300 12903986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 12910 15123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 12923764 12968392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 12944657 12944726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 1 29500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 1295572 1299415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1299181 1315391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPSD1 chr16 1299181 1315391 Gain and loss Pancreatic cancer SNP array 17952125 TPSD1 chr16 1299181 1315391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPSD1 chr16 12995625 12995664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA9 chr1 61300000 107200000 Copy number Endometrioid adenocarcinoma CGH 16974079 ABCA4,ABCD3,ACADM,ACTG1P4,AGL,AK4,AK5,ALG14,ALG6,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANKRD13C,ARHGAP29,ASB17,ATG4C,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf141,C1orf146,C1orf173,C1orf180,C1orf52,CACHD1,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CRYZ,CTBS,CTH,CYR61,DBT,DDAH1,DEPDC1,DIRAS3,DLEU2L,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNTTIP2,DOCK7,DPH5,DPYD,DPYD-AS1,DR1,EFCAB7,ELTD1,EPHX4,EVI5,EXTL2,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FOXD3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG12,GNG12-AS1,GNG5,GPR88,GTF2B,HFM1,HHLA3,HIAT1,HS2ST1,HSP90B3P,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,KIAA1107,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIER1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR3117,MIR3671,MIR4423,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,NFIA,ODF2L,OLFM3,PALMD,PDE4B,PGM1,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RAVER2,RBMXL1,RNPC3,RNU6-6,ROR1,RPAP2,RPE65,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SEP15,SERBP1,SGIP1,SH3GLB1,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TCTEX1D1,TGFBR3,TM2D1,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TRMT13,TTLL7,TYW3,UBE2U,UOX,USP1,USP33,VCAM1,WDR63,WDR78,WLS,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 61300000 68900000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 AK4,ALG6,ANGPTL3,ATG4C,C1orf141,CACHD1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIER1,MIR101-1,MIR1262,MIR3117,MIR3671,MIR4794,NFIA,PDE4B,PGM1,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,TCTEX1D1,TM2D1,UBE2U,USP1,WDR78,WLS chr1 61300000 84900000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACADM,AK4,AK5,ALG6,ANGPTL3,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf173,CACHD1,CRYZ,CTH,DEPDC1,DIRAS3,DLEU2L,DNAJB4,DNAJC6,DNASE2B,DOCK7,EFCAB7,ELTD1,FAM73A,FOXD3,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GIPC2,GNG12,GNG12-AS1,HHLA3,IFI44,IFI44L,IL12RB2,IL23R,INADL,INSL5,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LHX8,LINC00466,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4794,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,NFIA,PDE4B,PGM1,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RAVER2,ROR1,RPE65,SAMD13,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TCTEX1D1,TM2D1,TNNI3K,TTLL7,TYW3,UBE2U,UOX,USP1,USP33,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr16 13002284 13002384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA9 chr16 13107946 13108046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA9 chr16 13109256 13949702 Deletion Myelodysplastic syndrome - 21251322 SHISA9 chr16 13133127 13133214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA9 chr16 1314211 1314305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 13142 2083863 Substitutions and indels small cell lung cancer array-CGH 20016488 ARHGDIG,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf91,C1QTNF8,CACNA1H,CCDC154,CCDC78,CHTF18,CLCN7,CRAMP1L,DDX11L10,DECR2,EME2,FAHD1,FAM173A,FAM195A,FBXL16,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HN1L,HS3ST6,IFT140,IGFALS,ITFG3,JMJD8,LINC00235,LINC00254,LMF1,LOC100134368,LUC7L,MAPK8IP3,MEIOB,METRN,MIR3176,MIR3177,MIR5587,MIR662,MPG,MRPL28,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NUBP2,PDIA2,PIGQ,POLR3K,PRR25,PTX4,RAB11FIP3,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNRNP25,SOLH,SOX8,SPSB3,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBL3,TELO2,TMEM204,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZNF598 chr16 13147963 13148063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA9 chr16 13156716 13156800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA9 chr16 13188743 13188843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA9 chr16 1319080 1319779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1 31988585 Copy number gain Normal High-resolution SNP genotyping 21211785 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC388242,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1320001 1341500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 13201846 13204019 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SHISA9 chr16 13201914 13204509 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SHISA9 chr16 13201967 13203995 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SHISA9 chr16 13219556 13222038 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHISA9 chr16 1323655 1339441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1323655 1339441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1324654 1339440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1324663 1339443 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 13255186 13255286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA9 chr16 1339244 1341876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1339244 1341876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1339244 1341876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1341501 1416000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BAIAP3,GNPTG,TSR3,UBE2I,UNKL chr16 1341933 1353352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1341933 1353352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1341933 1353352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 13432924 13433019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1 34400000 Gain Breast cancer Array CGH 16608533 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 34400000 Gain Hodgkin's lymphoma References 20651079 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 34400000 Gain Metanephric adenoma Oligo aCGH 20802469 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 34400000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 34600000 Gain Basal cell lymphoma Array CGH 16317097 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 34600000 Gain Breast cancer Microarray-based CGH 17133270 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 34600000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 13489378 13927883 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr16 1348967 1349067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr1 61352143 61352243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1353207 1404701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAIAP3,GNPTG,TSR3,UBE2I chr16 1353207 1404701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAIAP3,GNPTG,TSR3,UBE2I chr16 13536803 13536903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1 354200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGDIG,AXIN1,DDX11L10,HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,LUC7L,MPG,NPRL3,PDIA2,POLR3K,RGS11,RHBDF1,SNRNP25 chr16 1355014 1369647 Gain and loss Pancreatic cancer SNP array 17952125 UBE2I chr16 1 359092 Deletion Cancer Affymetrix 250K Sty array 20164920 ARHGDIG,AXIN1,DDX11L10,HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,LUC7L,MPG,NPRL3,PDIA2,POLR3K,RGS11,RHBDF1,SNRNP25 chr1 61359552 61386704 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 1362794 1364166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBE2I chr16 1362854 1364171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBE2I chr16 1363159 1363876 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 UBE2I chr16 1363159 1363876 Deletion Non-syndromic sensorineural hearing loss 370K1,370K2 19587683 UBE2I chr16 1 36600000 Copy number Endometrioid adenocarcinoma CGH 16974079 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 36600000 Gain Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 36600000 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 36600000 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 13662429 13662603 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr16 13663433 13663511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1373525 1404705 Gain and loss Pancreatic cancer SNP array 17952125 BAIAP3,GNPTG,TSR3,UBE2I chr16 13747634 13747734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 13803072 13803152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1 38200000 Duplication Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 38200000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 38200000 Gain Ewing's sarcoma CGH(Reference) 21437220 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 38200000 Gain or loss Endometrial cancer CGH 22040021 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 38200000 Loss Astrocytoma CGH 17387387 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 38200000 Loss Breast cancer aCGH 21264507 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 1 38200000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 13851836 13851940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 13851838 13851940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 13851839 13851940 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 1391520 1447989 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 BAIAP3,GNPTG,TSR3,UNKL chr16 1391520 1500112 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 BAIAP3,C16orf91,CCDC154,CLCN7,GNPTG,TSR3,UNKL chr16 13921514 13953706 Copy number Lung cancer - 20668451 NOT_FOUND chr16 13921514 13953706 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 13921514 13953706 Gain or loss Cancer - 20668451 NOT_FOUND chr16 13921514 13953706 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 13921514 13953706 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 13921514 13953706 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 13921514 13953706 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 13921516 13949868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 13921516 13949868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 13921524 13949705 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 13923497 13949497 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 NOT_FOUND chr16 13980479 14008778 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr16 13983124 13983242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 13998017 13998107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 14013839 14013884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1 40700000 Loss Cervical cancer array CGH 21063398 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 14072697 14268130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKL2 chr16 14072697 14268130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL2 chr16 14080646 14268130 Gain and loss Pancreatic cancer SNP array 17952125 MKL2 chr16 1409945 1419346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNPTG,UNKL chr16 1409945 1419346 Gain and loss Pancreatic cancer SNP array 17952125 GNPTG,UNKL chr16 1409945 1419346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNPTG,UNKL chr16 14133 15353 Copy number Autism exome sequencing 22495311 NOT_FOUND chr16 1416001 1439500 Copy number Normal ReadDepth: A Parallel R Package 21305028 UNKL chr16 14205727 14205782 Gain and loss Pancreatic cancer SNP array 17952125 MKL2 chr16 1422503 1423399 Gain and loss Pancreatic cancer SNP array 17952125 UNKL chr16 1422503 1423399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNKL chr16 1424387 1434558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNKL chr16 1424609 1434000 Gain and loss Pancreatic cancer SNP array 17952125 UNKL chr16 14265564 16041918 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1072K arrays 21546498 ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR484,MKL2,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10,RRN3 chr16 14276863 14276956 Gain and loss Pancreatic cancer SNP array 17952125 MKL2 chr16 14276863 14276958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL2 chr16 14276865 14276956 Gain and loss Pancreatic cancer SNP array 17952125 MKL2 chr16 14282501 14287000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL2 chr16 142854 144504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 142854 144504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 14287001 14288500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL2 chr16 14288501 14308500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL2 chr16 14305325 14305407 Gain and loss Pancreatic cancer SNP array 17952125 MKL2 chr16 14305325 14305407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL2 chr16 14307562 14307662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MKL2 chr16 14308501 14310000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL2 chr16 14310001 14412500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR193B,MIR365A,MKL2 chr16 14310643 14310729 Gain and loss Pancreatic cancer SNP array 17952125 MKL2 chr16 14310643 14310729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL2 chr16 14339141 14379988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL2 chr16 14353265 15195351 LOH Normal High-resolution SNP genotyping 21211785 ABCC6P2,BFAR,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR365A,MKL2,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10,RRN3 chr16 1435346 1465013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNKL chr16 1435346 1465013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNKL chr16 1435346 1465582 Gain and loss Pancreatic cancer SNP array 17952125 UNKL chr16 14360088 15195351 LOH Normal High-resolution SNP genotyping 21211785 ABCC6P2,BFAR,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR365A,MKL2,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10,RRN3 chr16 14360737 14361154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 143689411 143692835 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr16 14378019 14378310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 14390980 14391075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1439501 1451500 Copy number Normal ReadDepth: A Parallel R Package 21305028 UNKL chr16 1440690 1440927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UNKL chr16 14437060 14640920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARN chr16 14437060 14640920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARN chr16 14438075 14631567 Gain and loss Pancreatic cancer SNP array 17952125 PARN chr16 14455562 14455656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 14455562 14455656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 14456972 14458111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 14471050 14473381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 14472343 14472555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1451501 1483000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf91,UNKL chr16 14529556 14783012 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BFAR,PARN,PLA2G10 chr16 14529556 15133811 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ABCC6P2,BFAR,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10 chr16 14529556 15133811 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P2,BFAR,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10 chr1 61456544 61456644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1459643 2177081 LOH Normal High-resolution SNP genotyping 21211785 C16orf91,CCDC154,CLCN7,CRAMP1L,EME2,FAHD1,GFER,HAGH,HN1L,HS3ST6,IFT140,IGFALS,LINC00254,MAPK8IP3,MEIOB,MIR1225,MIR3177,MRPS34,MSRB1,NDUFB10,NME3,NOXO1,NPW,NTHL1,NUBP2,PKD1,PTX4,RNF151,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SPSB3,SYNGR3,TBL3,TELO2,TMEM204,TSC2,UNKL,ZNF598 chr1 6146230 6344245 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACOT7,CHD5,GPR153,HES3,ICMT,KCNAB2,RNF207,RPL22 chr16 14634297 14670193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARN chr16 14634297 14670193 Gain and loss Pancreatic cancer SNP array 17952125 PARN chr16 14634297 14670193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARN chr16 14645145 14645207 Gain and loss Pancreatic cancer SNP array 17952125 PARN chr16 14655664 14733847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BFAR,PARN chr16 14662503 14783012 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BFAR,PARN,PLA2G10 chr16 14662503 15105859 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P2,BFAR,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,PARN,PDXDC1,PLA2G10 chr16 14662503 15133811 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P2,BFAR,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10 chr16 14662503 15133811 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P2,BFAR,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10 chr16 14667268 16693507 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14667484 28215440 Deletion Normal Arbitrated Peel-off 21527027 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,AQP8,ARHGAP17,ARL6IP1,BFAR,C16orf45,C16orf52,C16orf62,C16orf82,C16orf88,CACNG3,CCP110,CDR2,CHP2,CLEC19A,COG7,COQ7,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DNAH3,EARS2,EEF2K,ERI2,ERN2,FLJ21408,FOPNL,GDE1,GGA2,GP2,GPR139,GPRC5B,GSG1L,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL4R,IQCK,ITPRIPL2,KDM8,KIAA0430,KIAA0556,LCMT1,LOC100132247,LOC100190986,LOC100271836,LOC100506655,LOC554206,LOC653786,LOC81691,LYRM1,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MIR548AA2,MIR548D2,MPV17L,MYH11,NDE1,NDUFAB1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,OTOA,PALB2,PARN,PDILT,PDXDC1,PDZD9,PKD1P1,PLA2G10,PLK1,POLR3E,PRKCB,RBBP6,RPS15A,RRN3,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SLC7A5P2,SMG1,SMG1P1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,TNRC6A,UBFD1,UMOD,UQCRC2,USP31,VWA3A,XPO6,XYLT1,ZKSCAN2,ZP2 chr16 14667484 28215440 Deletion Normal GeneGISTIC 21527027 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,AQP8,ARHGAP17,ARL6IP1,BFAR,C16orf45,C16orf52,C16orf62,C16orf82,C16orf88,CACNG3,CCP110,CDR2,CHP2,CLEC19A,COG7,COQ7,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DNAH3,EARS2,EEF2K,ERI2,ERN2,FLJ21408,FOPNL,GDE1,GGA2,GP2,GPR139,GPRC5B,GSG1L,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL4R,IQCK,ITPRIPL2,KDM8,KIAA0430,KIAA0556,LCMT1,LOC100132247,LOC100190986,LOC100271836,LOC100506655,LOC554206,LOC653786,LOC81691,LYRM1,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MIR548AA2,MIR548D2,MPV17L,MYH11,NDE1,NDUFAB1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,OTOA,PALB2,PARN,PDILT,PDXDC1,PDZD9,PKD1P1,PLA2G10,PLK1,POLR3E,PRKCB,RBBP6,RPS15A,RRN3,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SLC7A5P2,SMG1,SMG1P1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,TNRC6A,UBFD1,UMOD,UQCRC2,USP31,VWA3A,XPO6,XYLT1,ZKSCAN2,ZP2 chr16 14667484 28215440 Deletion Normal Standard peel-off 21527027 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,AQP8,ARHGAP17,ARL6IP1,BFAR,C16orf45,C16orf52,C16orf62,C16orf82,C16orf88,CACNG3,CCP110,CDR2,CHP2,CLEC19A,COG7,COQ7,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DNAH3,EARS2,EEF2K,ERI2,ERN2,FLJ21408,FOPNL,GDE1,GGA2,GP2,GPR139,GPRC5B,GSG1L,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL4R,IQCK,ITPRIPL2,KDM8,KIAA0430,KIAA0556,LCMT1,LOC100132247,LOC100190986,LOC100271836,LOC100506655,LOC554206,LOC653786,LOC81691,LYRM1,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MIR548AA2,MIR548D2,MPV17L,MYH11,NDE1,NDUFAB1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,OTOA,PALB2,PARN,PDILT,PDXDC1,PDZD9,PKD1P1,PLA2G10,PLK1,POLR3E,PRKCB,RBBP6,RPS15A,RRN3,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SLC7A5P2,SMG1,SMG1P1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,TNRC6A,UBFD1,UMOD,UQCRC2,USP31,VWA3A,XPO6,XYLT1,ZKSCAN2,ZP2 chr16 14673905 14696027 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 PARN chr16 14673908 14696027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARN chr16 14673908 14696027 Gain and loss Pancreatic cancer SNP array 17952125 PARN chr16 14673908 14696027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARN chr16 1467830 1468585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 14688993 14896923 Gain Autism 1M Ailent CGH whole-genome array 21865298 BFAR,PARN,PLA2G10 chr16 14699106 16308654 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10,RRN3 chr16 14700000 16700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Duplication or deletion Behavioral abnormalities aCGH 21150890 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Duplication or deletion Cognitive impairment aCGH 21150890 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Duplication or deletion Congenital heart defects aCGH 21150890 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Duplication or deletion Craniosynostosis aCGH 21150890 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Duplication or deletion polydactyly aCGH 21150890 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Gain Autism Array CGH 21269290 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Gain Intellectual disability Array CGH 21269290 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Gain Lujan-Fryns syndrom Affymetrix Genome-Wide Human SNP 6.0 arrays 21521776 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Gain Schizophrenia Array CGH 21269290 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Loss Adenocarcinoma array-CGH 19607727 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Loss Squamous cell cancer array-CGH 19607727 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14700000 16700000 Microdeletion fetus with increased nuchal translucency 244K Agilent microarray CGH 19018765 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PARN,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 14713047 14727651 Gain and loss Pancreatic cancer SNP array 17952125 BFAR,PARN chr16 14713047 14727651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BFAR,PARN chr16 14722900 14771096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BFAR,PARN,PLA2G10 chr16 14742556 14971206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ABCC6P2,BFAR,NOMO1,PLA2G10 chr16 14742556 14994666 Duplication Normal Affymetrix 6.0 microarrays 20967226 ABCC6P2,BFAR,NOMO1,PLA2G10 chr16 14742556 16285151 Microdeletions Autism high-density single nucleotide polymorphism arrays 19843651 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,PLA2G10,RRN3 chr16 14742556 16285151 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,PLA2G10,RRN3 chr16 14742556 16285151 Microdeletions idiopathic generalized epilepsy high-density single nucleotide polymorphism arrays 19843651 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,PLA2G10,RRN3 chr16 14742556 16285151 Microdeletions Schizophrenia high-density single nucleotide polymorphism arrays 19843651 ABCC1,ABCC6,ABCC6P2,BFAR,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,PLA2G10,RRN3 chr16 1474489 2010443 LOH Normal High-resolution SNP genotyping 21211785 C16orf91,CCDC154,CLCN7,CRAMP1L,EME2,FAHD1,HAGH,HN1L,HS3ST6,IFT140,IGFALS,LINC00254,MAPK8IP3,MEIOB,MIR3177,MRPS34,MSRB1,NDUFB10,NME3,NUBP2,PTX4,RPL3L,SPSB3,TELO2,TMEM204 chr16 14752171 14766771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BFAR,PLA2G10 chr16 14752171 14766788 Gain and loss Pancreatic cancer SNP array 17952125 BFAR,PLA2G10 chr16 1 4759050 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ABCA17P,ABCA3,ADCY9,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf79,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1475941 1478469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf91 chr16 1475941 1478469 Gain and loss Pancreatic cancer SNP array 17952125 C16orf91 chr16 1475941 1478469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf91 chr16 14765422 14765517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 14780000 16770000 Deletion renal disease Array CGH, FISH 17924346 ABCC1,ABCC6,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PDXDC1,PKD1P1,PLA2G10,RRN3 chr16 1478531 16308654 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P2,ADCY9,ALG1,AMDHD2,ANKS3,ATF7IP2,ATP6V0C,BCAR4,BFAR,C16orf45,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCNF,CEMP1,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLUAP1,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,DEXI,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,EMP2,ERCC4,ERVK13-1,FAHD1,FAM100A,FAM18A,FAM86A,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GFER,GLIS2,GLYR1,GRIN2A,GSPT1,HAGH,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,KCTD5,KIAA0430,KREMEN2,LINC00254,LINC00514,LITAF,LOC100128770,LOC100507501,LOC440335,LOC652276,MAPK8IP3,MEFV,MEIOB,METTL22,MGC3771,MGRN1,MIR1225,MIR193B,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4717,MIR4718,MIR484,MIR548X,MIR940,MKL2,MLST8,MMP25,MPV17L,MRPS34,MSRB1,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NDE1,NDUFB10,NLRC3,NME3,NMRAL1,NOMO1,NOXO1,NPIP,NPW,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PARN,PDPK1,PDXDC1,PGP,PKD1,PKMYT1,PLA2G10,PMM2,PPL,PRM1,PRM2,PRM3,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB26,RBFOX1,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RRN3,RSL1D1,SEC14L5,SEPT12,SHISA9,SLC9A3R2,SLX4,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNX29,SOCS1,SPSB3,SRL,SRRM2,SRRM2-AS1,SYNGR3,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TNFRSF12A,TNFRSF17,TNP2,TRAF7,TRAP1,TSC2,TXNDC11,UBN1,USP7,VASN,ZC3H7A,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 14789257 15133811 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1 chr16 14796084 14987969 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 ABCC6P2,NOMO1 chr16 14796084 14993173 Duplication Normal Affymetrix 6.0 microarrays 20967226 ABCC6P2,NOMO1 chr16 14796084 14993173 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ABCC6P2,NOMO1 chr16 14796084 15035487 Duplication Normal Affymetrix 6.0 microarrays 20967226 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP chr16 14796096 14805302 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 14800000 16800000 Deletion Epilepsy ref 20923578 ABCC1,ABCC6,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PDXDC1,PKD1P1,RRN3 chr16 14800000 16800000 Duplication Neurocognitive NimbleGen 123*135K array 19506092 ABCC1,ABCC6,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PDXDC1,PKD1P1,RRN3 chr16 14800000 21200000 Duplication Mental retardation array CGH 17124404 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ARL6IP1,C16orf45,C16orf62,C16orf88,CCP110,CLEC19A,COQ7,DCUN1D3,DNAH3,ERI2,FOPNL,GDE1,GP2,GPR139,GPRC5B,IQCK,ITPRIPL2,KIAA0430,LOC81691,LYRM1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO2,NOMO3,NPIP,NTAN1,PDILT,PDXDC1,PKD1P1,RPS15A,RRN3,SMG1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,UMOD,XYLT1 chr16 14800000 24200000 Gain Prostate cancer Array CGH 16573809 ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,ARL6IP1,C16orf45,C16orf52,C16orf62,C16orf88,CCP110,CDR2,CHP2,CLEC19A,COG7,COQ7,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DNAH3,EARS2,EEF2K,ERI2,ERN2,FOPNL,GDE1,GGA2,GP2,GPR139,GPRC5B,HS3ST2,IGSF6,IQCK,ITPRIPL2,KIAA0430,LOC100132247,LOC100190986,LOC100271836,LOC653786,LOC81691,LYRM1,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MIR548AA2,MIR548D2,MPV17L,MYH11,NDE1,NDUFAB1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NTAN1,OTOA,PALB2,PDILT,PDXDC1,PDZD9,PKD1P1,PLK1,POLR3E,PRKCB,RPS15A,RRN3,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC7A5P2,SMG1,SMG1P1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,UBFD1,UMOD,UQCRC2,USP31,VWA3A,XYLT1,ZP2 chr16 14803686 15002197 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,NOMO1 chr16 14805302 14844825 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 14808870 16190572 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14817728 15032941 Gain Normal 244K array 17666407 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP chr1 61482254 61482338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 14823790 14826073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 14824163 14826050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 14824193 16190572 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14824193 16505578 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PDXDC1,PKD1P1,RRN3 chr16 14826243 14826413 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 61482874 61483104 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 1483001 1501500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC154,CLCN7 chr16 1483365 1500454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC154,CLCN7 chr16 1483365 1500454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC154,CLCN7 chr16 1483368 1500454 Gain and loss Pancreatic cancer SNP array 17952125 CCDC154,CLCN7 chr16 14835144 14897514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 14835144 14897514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 14835164 14897514 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 14837252 16247941 Loss Developmental delay affymetrix genechip 500K/SNP 6.67 array 21147756 ABCC1,ABCC6,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14844825 14878916 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 14846829 14967222 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ABCC6P2,NOMO1 chr16 14851706 16326995 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NOMO3,NPIP,NTAN1,PDXDC1,RRN3 chr16 14859727 15133811 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1 chr16 14873336 14958740 Loss aortic dissecting aneurysms Array-CGH 22263138 ABCC6P2,NOMO1 chr16 14873336 14958740 Loss Stenocardia MACArray Karyo 104K BAC-chips 21860640 ABCC6P2,NOMO1 chr16 14873336 14958740 Loss Vasospasm MACArray Karyo 104K BAC-chips 21860640 ABCC6P2,NOMO1 chr16 14878916 14886470 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 14886470 14888478 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 14888466 14994666 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ABCC6P2,NOMO1 chr16 14888478 14897340 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 14896111 15105859 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,PDXDC1 chr16 14896111 15274051 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14897340 14897363 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 14897344 16215852 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14897344 16270022 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6,ABCC6P2,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14897352 15023746 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1 chr16 14897363 14897364 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 14897364 14956269 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ABCC6P2,NOMO1 chr16 14897364 14994678 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ABCC6P2,NOMO1 chr16 14897364 15016088 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1 chr16 14909501 14943250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC6P2,NOMO1 chr16 14916292 15032663 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ABCC6P2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP chr16 14916815 14916914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC6P2 chr16 14916817 14916913 Gain and loss Pancreatic cancer SNP array 17952125 ABCC6P2 chr16 14916817 14916914 Gain and loss Pancreatic cancer SNP array 17952125 ABCC6P2 chr16 14924160 14953402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOMO1 chr16 14930771 14953416 Gain and loss Pancreatic cancer SNP array 17952125 NOMO1 chr16 14938245 15039130 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP chr16 14938801 14953402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOMO1 chr16 14943251 14976000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOMO1 chr16 1494714 1494759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 149501 173500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NPRL3 chr16 1495551 1495611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLCN7 chr16 14956000 24556000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ABCC1,ABCC6,ABCC6P1,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,ARL6IP1,C16orf45,C16orf52,C16orf62,C16orf88,CACNG3,CCP110,CDR2,CHP2,CLEC19A,COG7,COQ7,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DNAH3,EARS2,EEF2K,ERI2,ERN2,FOPNL,GDE1,GGA2,GP2,GPR139,GPRC5B,HS3ST2,IGSF6,IQCK,ITPRIPL2,KIAA0430,LOC100132247,LOC100190986,LOC100271836,LOC653786,LOC81691,LYRM1,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MIR548AA2,MIR548D2,MPV17L,MYH11,NDE1,NDUFAB1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NTAN1,OTOA,PALB2,PDILT,PDXDC1,PDZD9,PKD1P1,PLK1,POLR3E,PRKCB,RBBP6,RPS15A,RRN3,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC7A5P2,SMG1,SMG1P1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,UBFD1,UMOD,UQCRC2,USP31,VWA3A,XYLT1,ZP2 chr16 14956177 14988913 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOMO1 chr16 14956201 16193208 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 ABCC1,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14956257 14984969 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOMO1 chr16 14956269 14987640 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOMO1 chr16 14957374 14994666 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOMO1 chr16 14957482 14980410 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOMO1 chr16 14961214 16285151 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14962365 16198600 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 chr16 14976001 14977500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOMO1 chr16 14976333 15039053 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP chr16 14976370 15140696 Gain and loss Pancreatic cancer SNP array 17952125 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1 chr16 14976487 15140696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1 chr16 14976487 15140696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1 chr16 14977501 14989500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOMO1 chr16 14987640 15016088 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1 chr16 14989501 14991500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOMO1 chr16 14989635 14991548 Gain and loss Pancreatic cancer SNP array 17952125 NOMO1 chr16 14991501 15028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3 chr16 1499272 1499327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLCN7 chr16 14993255 16638105 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO3,NPIP,NTAN1,PDXDC1,PKD1P1,RRN3 chr16 15000000 16500000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO3,NPIP,NTAN1,PDXDC1,PKD1P1,RRN3 chr16 1500429 1600859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLCN7,IFT140,PTX4,TELO2,TMEM204 chr16 1500429 1600859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCN7,IFT140,PTX4,TELO2,TMEM204 chr16 1500432 1602810 Gain and loss Pancreatic cancer SNP array 17952125 CLCN7,IFT140,PTX4,TELO2,TMEM204 chr16 1501501 1513500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLCN7 chr16 15016088 15023758 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 15032941 16197033 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,C16orf45,FOPNL,KIAA0430,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NPIP,NTAN1,PDXDC1,RRN3 chr16 15032942 16197033 Deletion Obesity Illumina SNP array 20622171 ABCC1,C16orf45,FOPNL,KIAA0430,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NPIP,NTAN1,PDXDC1,RRN3 chr16 15032942 16197033 Duplication Autism Illumina HumanHap560 BeadChip 20858243 ABCC1,C16orf45,FOPNL,KIAA0430,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NPIP,NTAN1,PDXDC1,RRN3 chr16 15032942 16197033 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,C16orf45,FOPNL,KIAA0430,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NPIP,NTAN1,PDXDC1,RRN3 chr16 15034391 16437092 Gain Developmental delay affymetrix genechip 500K/SNP 6.68 array 21147756 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO3,NPIP,NTAN1,PDXDC1,PKD1P1,RRN3 chr16 15039073 15274051 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR3180-4,NPIP,NTAN1,PDXDC1,RRN3 chr16 15039212 15057344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPIP chr16 15039212 15057344 Gain and loss Pancreatic cancer SNP array 17952125 NPIP chr16 15039212 15057344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPIP chr16 15050135 15050404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 1505173 1505273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLCN7 chr16 15061380 15095613 Gain and loss Pancreatic cancer SNP array 17952125 PDXDC1 chr16 15061382 15095659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDXDC1 chr16 15061382 15095659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDXDC1 chr16 15064442 16759687 Amplification Breast cancer FISH 17142309 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO3,NTAN1,PDXDC1,PKD1P1,RRN3 chr16 1508803 2198980 LOH Normal High-resolution SNP genotyping 21211785 CLCN7,CRAMP1L,EME2,FAHD1,GFER,HAGH,HN1L,HS3ST6,IFT140,IGFALS,LINC00254,MAPK8IP3,MEIOB,MIR1225,MIR3177,MIR3180-5,MIR4516,MRPS34,MSRB1,NDUFB10,NME3,NOXO1,NPW,NTHL1,NUBP2,PKD1,PTX4,RAB26,RNF151,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SPSB3,SYNGR3,TBL3,TELO2,TMEM204,TSC2,ZNF598 chr16 1508803 2240983 LOH Normal High-resolution SNP genotyping 21211785 CASKIN1,CLCN7,CRAMP1L,EME2,FAHD1,GFER,HAGH,HN1L,HS3ST6,IFT140,IGFALS,LINC00254,MAPK8IP3,MEIOB,MIR1225,MIR3177,MIR3180-5,MIR4516,MRPS34,MSRB1,NDUFB10,NME3,NOXO1,NPW,NTHL1,NUBP2,PKD1,PTX4,RAB26,RNF151,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SPSB3,SYNGR3,TBL3,TELO2,TMEM204,TRAF7,TSC2,ZNF598 chr16 1509330 14929488 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABAT,ABCA17P,ABCA3,ABCC6P2,ADCY9,ALG1,AMDHD2,ANKS3,ATF7IP2,ATP6V0C,BCAR4,BFAR,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf96,CARHSP1,CASKIN1,CCDC64B,CCNF,CEMP1,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLUAP1,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,DEXI,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,EMP2,ERCC4,ERVK13-1,FAHD1,FAM100A,FAM18A,FAM86A,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GRIN2A,GSPT1,HAGH,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,KCTD5,KREMEN2,LINC00254,LINC00514,LITAF,LOC100128770,LOC100507501,LOC440335,LOC652276,MAPK8IP3,MEFV,MEIOB,METTL22,MGC3771,MGRN1,MIR1225,MIR193B,MIR3177,MIR3178,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4717,MIR4718,MIR548X,MIR940,MKL2,MLST8,MMP25,MRPS34,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NDUFB10,NLRC3,NME3,NMRAL1,NOMO1,NOXO1,NPW,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PARN,PDPK1,PGP,PKD1,PKMYT1,PLA2G10,PMM2,PPL,PRM1,PRM2,PRM3,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB26,RBFOX1,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RSL1D1,SEC14L5,SEPT12,SHISA9,SLC9A3R2,SLX4,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNX29,SOCS1,SPSB3,SRL,SRRM2,SRRM2-AS1,SYNGR3,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TNFRSF12A,TNFRSF17,TNP2,TRAF7,TRAP1,TSC2,TXNDC11,UBN1,USP7,VASN,ZC3H7A,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 15095001 15134000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTAN1,PDXDC1 chr1 61509898 61543738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NFIA chr16 15100090 15100222 Gain and loss Pancreatic cancer SNP array 17952125 PDXDC1 chr16 15100090 15100222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDXDC1 chr16 15106005 15132796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTAN1,PDXDC1 chr16 15106005 15132796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTAN1,PDXDC1 chr16 15106920 15133067 Gain and loss Pancreatic cancer SNP array 17952125 NTAN1,PDXDC1 chr16 15131782 15131782 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 NTAN1 chr16 15131782 15131782 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 NTAN1 chr16 15134001 15156000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTAN1,RRN3 chr16 1513501 1533500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLCN7 chr16 15152055 15152152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 15152055 15152154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 15152056 15152152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1516702 2240983 LOH Normal High-resolution SNP genotyping 21211785 CASKIN1,CLCN7,CRAMP1L,EME2,FAHD1,GFER,HAGH,HN1L,HS3ST6,IFT140,IGFALS,LINC00254,MAPK8IP3,MEIOB,MIR1225,MIR3177,MIR3180-5,MIR4516,MRPS34,MSRB1,NDUFB10,NME3,NOXO1,NPW,NTHL1,NUBP2,PKD1,PTX4,RAB26,RNF151,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SPSB3,SYNGR3,TBL3,TELO2,TMEM204,TRAF7,TSC2,ZNF598 chr16 1516702 2907070 LOH Normal High-resolution SNP genotyping 21211785 ABCA17P,ABCA3,AMDHD2,ATP6V0C,C16orf59,C16orf79,CASKIN1,CCNF,CEMP1,CLCN7,CRAMP1L,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FLJ42627,GFER,HAGH,HN1L,HS3ST6,IFT140,IGFALS,KCTD5,LINC00254,LOC652276,MAPK8IP3,MEIOB,MIR1225,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR940,MLST8,MRPS34,MSRB1,NDUFB10,NME3,NOXO1,NPW,NTHL1,NTN3,NUBP2,PDPK1,PGP,PKD1,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB26,RNF151,RNPS1,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SPSB3,SRRM2,SRRM2-AS1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TMEM204,TRAF7,TSC2,ZG16B,ZNF598 chr16 15186307 18192575 Microdeletions idiopathic generalized epilepsy Affy 6.0 array 19843651 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1,RRN3,XYLT1 chr16 1518743 1545580 Gain and loss Pancreatic cancer SNP array 17952125 CLCN7,PTX4,TELO2 chr16 15222550 18085470 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1,XYLT1 chr16 1523659 1545578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLCN7,PTX4,TELO2 chr16 1523659 1545578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCN7,PTX4,TELO2 chr16 15237001 15263250 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3180-4 chr16 1524231 1545244 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CLCN7,PTX4,TELO2 chr1 61525543 61683939 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NFIA chr16 15263251 16623000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1 chr16 15300715 16262459 LOH Normal High-resolution SNP genotyping 21211785 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15311211 16298536 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 153121 155155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 1533501 1716500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRAMP1L,IFT140,PTX4,TELO2,TMEM204 chr16 15360000 17700000 Gain Ductal carcinoma SNP array 22052326 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1,XYLT1 chr16 15365326 15371268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 15365326 15371268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 15366674 16198600 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15369797 16256106 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15375070 15375201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 15386338 18291982 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1,XYLT1 chr16 15387379 16197033 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 ABCC1,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15387380 16197033 Gain Asthma Illumina 550K SNP array 20841430 ABCC1,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15387380 16225138 Microdeletion Epilepsy HumanHap 550K, and HumanHap 317K 21635232 ABCC1,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15387380 16270740 Gain Autism qPCR, Illumina1M 20531469 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15387380 18072544 Deletion Schizophrenia PennCNV software 19197363 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1,XYLT1 chr16 15387381 18072544 Copy number Schizophrenia - 20388499 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1,XYLT1 chr16 15388997 15418202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 15397111 15411044 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 15397112 15411040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 15397112 15411040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 15397163 15409751 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 15400000 16300000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15400000 16800000 Duplication Neuroendocrine carcinoma TaqMan real-time quantitative PCR and commercially available reagents (Applied Biosystems, Foster City, CA, USA) 21139019 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1 chr16 15406308 15448029 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 15407000 16152000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCC1,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15411955 16191749 Deletion or duplication Normal - 21701786 ABCC1,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15435742 16189809 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ABCC1,C16orf45,FOPNL,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr16 15435826 15589418 Gain and loss Pancreatic cancer SNP array 17952125 C16orf45,MPV17L chr16 15435826 15589418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf45,MPV17L chr16 15446641 15843228 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 C16orf45,KIAA0430,MIR484,MPV17L,MYH11,NDE1 chr1 61549029 64917453 Copy number gain Normal High-resolution SNP genotyping 21211785 ALG6,ANGPTL3,ATG4C,DLEU2L,DOCK7,EFCAB7,FOXD3,INADL,ITGB3BP,KANK4,L1TD1,LINC00466,NFIA,PGM1,ROR1,TM2D1,UBE2U,USP1 chr1 61552851 61552951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIA chr16 15580365 15580397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf45 chr16 15595746 15640653 Gain and loss Pancreatic cancer SNP array 17952125 C16orf45 chr16 15595746 15644510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf45 chr16 15595746 15644510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf45 chr16 155973 156767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 155973 156767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 15611512 15611587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf45 chr16 15612268 15612927 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 C16orf45 chr16 1561583 1561683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT140 chr1 61563140 61563240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIA chr16 15644625 15727711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf45,KIAA0430 chr16 15644625 15727711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf45,KIAA0430 chr16 15644652 15644730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf45 chr16 15644658 15644720 Gain and loss Pancreatic cancer SNP array 17952125 C16orf45 chr1 6156501 6187500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHD5,KCNAB2 chr16 15651604 15726491 Copy number Schizophrenia - 20877625 C16orf45,KIAA0430 chr16 15666085 15726492 Gain and loss Pancreatic cancer SNP array 17952125 C16orf45,KIAA0430 chr16 15700388 15700470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0430 chr16 15704492 15858388 Gain or loss Breast cancer - 20668451 KIAA0430,MIR484,MYH11,NDE1 chr16 15704492 15858388 Gain or loss Cancer - 20668451 KIAA0430,MIR484,MYH11,NDE1 chr16 15704492 15858388 Gain or loss Lung cancer - 20668451 KIAA0430,MIR484,MYH11,NDE1 chr16 15704492 15858388 Gain or loss Ovarian cancer - 20668451 KIAA0430,MIR484,MYH11,NDE1 chr16 15704492 15858388 Gain or loss Pancreas cancer - 20668451 KIAA0430,MIR484,MYH11,NDE1 chr16 15704492 15858388 Gain or loss Prostate cancer - 20668451 KIAA0430,MIR484,MYH11,NDE1 chr16 15704493 15858388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0430,MIR484,MYH11,NDE1 chr16 15704493 15858388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0430,MIR484,MYH11,NDE1 chr16 15704495 15858369 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0430,MIR484,MYH11,NDE1 chr16 15737123 15820206 Copy number Schizophrenia - 21195721 MIR484,MYH11,NDE1 chr16 15764243 15780473 Amplification or deletion Cancer Array CGH 17440070 NDE1 chr16 15800000 17900000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ABCC1,ABCC6,FOPNL,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MYH11,NDE1,NOMO3,PKD1P1,XYLT1 chr16 15807153 15838779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYH11,NDE1 chr16 1583810 1583865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT140,TMEM204 chr1 61586075 61586175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIA chr16 15867077 15889969 Gain and loss Pancreatic cancer SNP array 17952125 MYH11 chr16 15867078 15889963 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH11 chr16 15867078 15889963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH11 chr16 158678 159333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 1587544 2778228 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ABCA17P,ABCA3,AMDHD2,ATP6V0C,C16orf59,C16orf79,CASKIN1,CCNF,CEMP1,CRAMP1L,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FLJ42627,GFER,HAGH,HN1L,HS3ST6,IFT140,IGFALS,KCTD5,LINC00254,LOC652276,MAPK8IP3,MEIOB,MIR1225,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR940,MLST8,MRPS34,MSRB1,NDUFB10,NME3,NOXO1,NPW,NTHL1,NTN3,NUBP2,PDPK1,PGP,PKD1,PRSS27,RAB26,RNF151,RNPS1,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SPSB3,SYNGR3,TBC1D24,TBL3,TMEM204,TRAF7,TSC2,ZNF598 chr16 15878521 15878624 Gain and loss Pancreatic cancer SNP array 17952125 MYH11 chr16 15878521 15878624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH11 chr16 15888009 15931537 Gain Normal Birdsuite, version 1.5.2 22087296 MYH11 chr16 1590947 1757432 Indels Normal Affymetrix and Illumina arrays 20811451 CRAMP1L,HN1L,IFT140,MAPK8IP3,TMEM204 chr16 159147 185217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NPRL3 chr16 15933050 15933654 Gain and loss Pancreatic cancer SNP array 17952125 MYH11 chr16 15933055 15933654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH11 chr16 15941270 15941593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYH11 chr16 15950935 16144432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC1,FOPNL chr16 15950935 16144432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC1,FOPNL chr16 15976266 15982046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FOPNL chr16 1600164 1602810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT140,TMEM204 chr16 16009174 16144410 Gain and loss Pancreatic cancer SNP array 17952125 ABCC1 chr16 1602339 1667910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRAMP1L,IFT140,TMEM204 chr16 1602339 1667910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRAMP1L,IFT140,TMEM204 chr16 1603974 1692073 Gain and loss Pancreatic cancer SNP array 17952125 CRAMP1L,IFT140,TMEM204 chr1 61606567 61606660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIA chr16 16086736 16086823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC1 chr16 16092718 16304613 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC1,ABCC6 chr16 16092718 16764110 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC1,ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 chr16 16092718 16831289 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ABCC1,ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 chr16 16092718 16831289 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC1,ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 chr16 16092718 16831289 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC1,ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 chr16 16116101 18646100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC1,ABCC6,ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,NOMO3,PKD1P1,XYLT1 chr16 16125680 16125735 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ABCC1 chr16 16150922 16224829 Copy number Pseudoxanthoma Elasticum quantitative multiplex PCR of short fluorescent fragments (QMPSF) 17823974 ABCC1 chr16 16150924 16224815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC1 chr16 16150924 16224815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC1 chr16 16151491 16224815 Gain and loss Pancreatic cancer SNP array 17952125 ABCC1 chr16 16192414 16742637 Loss or gain Normal 244K array 17666407 ABCC1,ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 chr16 162083 167514 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NPRL3 chr16 16225331 16225458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC1 chr16 16233890 16296168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC1,ABCC6 chr16 16233890 16296168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC1,ABCC6 chr16 16233979 16296168 Gain and loss Pancreatic cancer SNP array 17952125 ABCC1,ABCC6 chr16 16260667 16475385 Loss Normal Birdsuite, version 1.5.2 22087296 ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 chr16 16274784 16391850 Loss aortic dissecting aneurysms Array-CGH 22263138 ABCC6,NOMO3 chr16 16274784 16391850 Loss Stenocardia MACArray Karyo 103K BAC-chips 21860640 ABCC6,NOMO3 chr16 16274784 16391850 Loss Vasospasm MACArray Karyo 103K BAC-chips 21860640 ABCC6,NOMO3 chr16 16278063 16278133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC6 chr16 162875 163709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 162875 163709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 162918 167514 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NPRL3 chr16 1 6300000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Copy number Normal - 21701786 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Copy number Rubinstein-Taybi syndrome Array-CGH 17473832 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Copy number Rubinstein-Taybi syndrome Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Deletion Developmental delay Array-based comparative genomic hybridization 18414209 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Deletion Mental retardation Array-based comparative genomic hybridization 18414209 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Deletion Rubinstein-Taybi syndrome segregation analysis of intragenic microsatellites, BAC FISH and direct sequencing of PCR and RT-PCR fragments 17052327 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain Congenital diaphragmatic hernia BAC-array CGH 21341218 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain,loss Breast cancer - 16397240 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain Medulloblastoma SNP arrays 21979893 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain Non-small cell lung cancer dChip 21829676 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain Normal Human genome CGH 65k ARRAY PLATFORM 22144094 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Indels Renal cell carcinoma MCG Whole Genome Array-4500 21228928 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Loss Hepatocellular carcinoma Array CGH 16750200 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Microdeletion ATR-16 Syndrome aCGH 22470819 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Microdeletion Rubinstein-Taybi syndrome FISH 17052063 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 6300000 Microdeletion Rubinstein-Taybi syndrome oligonucleotide array-based CGH 22269667 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 16315470 16315569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC6 chr16 16315472 16315568 Gain and loss Pancreatic cancer SNP array 17952125 ABCC6 chr16 16315472 16315569 Gain and loss Pancreatic cancer SNP array 17952125 ABCC6 chr16 16322751 16351948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOMO3 chr16 16322811 16395300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3179-1,MIR3179-2,MIR3179-3,NOMO3 chr16 16333235 16351938 Gain and loss Pancreatic cancer SNP array 17952125 NOMO3 chr16 16349901 16375507 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOMO3 chr16 163679 167490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPRL3 chr16 16389099 16395300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3179-1,MIR3179-2,MIR3179-3 chr16 16407337 16436955 Deletion Schizophrenia NimbleGen HD2 platform 21346763 PKD1P1 chr16 16420592 16564961 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PKD1P1 chr16 16448905 16765103 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 16448905 16765103 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 16460524 16730728 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 NOT_FOUND chr16 16467596 16756333 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 16475385 16492765 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16481609 16764110 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 16481609 16831289 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 16492765 16500214 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16500214 16535563 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 61653274 61906852 Gain Autism qPCR, Agilent 1M 20531469 NFIA chr16 16535563 16540861 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16535564 16694677 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 16538314 18268877 Loss Autism qPCR, Agilent 1M 20531469 XYLT1 chr16 16540861 16540862 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16540862 16598301 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 16540862 16598301 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16559285 16644036 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 16598301 16600146 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16600146 16607564 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16607564 16623582 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16623582 16706164 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 16658375 17727987 LOH Normal High-resolution SNP genotyping 21211785 XYLT1 chr16 166679 167521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 166679 167521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 1668279 1692073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRAMP1L chr16 1668279 1692073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRAMP1L chr16 16700000 20500000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ABCC6P1,ACSM2A,ACSM5,ARL6IP1,C16orf62,C16orf88,CCP110,CLEC19A,COQ7,GDE1,GP2,GPR139,GPRC5B,IQCK,ITPRIPL2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,PDILT,RPS15A,SMG1,SYT17,TMC5,TMC7,UMOD,XYLT1 chr16 16700000 20500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC6P1,ACSM2A,ACSM5,ARL6IP1,C16orf62,C16orf88,CCP110,CLEC19A,COQ7,GDE1,GP2,GPR139,GPRC5B,IQCK,ITPRIPL2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,PDILT,RPS15A,SMG1,SYT17,TMC5,TMC7,UMOD,XYLT1 chr16 16700000 20500000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ABCC6P1,ACSM2A,ACSM5,ARL6IP1,C16orf62,C16orf88,CCP110,CLEC19A,COQ7,GDE1,GP2,GPR139,GPRC5B,IQCK,ITPRIPL2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,PDILT,RPS15A,SMG1,SYT17,TMC5,TMC7,UMOD,XYLT1 chr16 16700000 20500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC6P1,ACSM2A,ACSM5,ARL6IP1,C16orf62,C16orf88,CCP110,CLEC19A,COQ7,GDE1,GP2,GPR139,GPRC5B,IQCK,ITPRIPL2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,PDILT,RPS15A,SMG1,SYT17,TMC5,TMC7,UMOD,XYLT1 chr16 16700000 27600000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ABCC6P1,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,AQP8,ARHGAP17,ARL6IP1,C16orf52,C16orf62,C16orf82,C16orf88,CACNG3,CCP110,CDR2,CHP2,CLEC19A,COG7,COQ7,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DNAH3,EARS2,EEF2K,ERI2,ERN2,FLJ21408,GDE1,GGA2,GP2,GPR139,GPRC5B,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL4R,IQCK,ITPRIPL2,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100190986,LOC100271836,LOC100506655,LOC554206,LOC653786,LOC81691,LYRM1,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR548AA2,MIR548D2,NDUFAB1,NOMO2,NPIPL3,NSMCE1,OTOA,PALB2,PDILT,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RPS15A,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SLC7A5P2,SMG1,SMG1P1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,TNRC6A,UBFD1,UMOD,UQCRC2,USP31,VWA3A,XYLT1,ZKSCAN2,ZP2 chr1 6167668 6182266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr1 6167668 6182266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr16 167679 1478531 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 ARHGDIG,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf91,C1QTNF8,CACNA1H,CCDC78,CHTF18,DECR2,FAM173A,FAM195A,FBXL16,GNG13,GNPTG,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,JMJD8,LINC00235,LMF1,LOC100134368,LUC7L,METRN,MIR3176,MIR5587,MIR662,MRPL28,MSLN,NARFL,NHLRC4,NME4,NPRL3,PDIA2,PIGQ,PRR25,RAB11FIP3,RAB40C,RGS11,RHBDL1,RHOT2,RPUSD1,SOLH,SOX8,SSTR5,SSTR5-AS1,STUB1,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1 chr16 16800000 28100000 Deletion Epilepsy ref 20923578 ABCC6P1,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,AQP8,ARHGAP17,ARL6IP1,C16orf52,C16orf62,C16orf82,C16orf88,CACNG3,CCP110,CDR2,CHP2,CLEC19A,COG7,COQ7,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DNAH3,EARS2,EEF2K,ERI2,ERN2,FLJ21408,GDE1,GGA2,GP2,GPR139,GPRC5B,GSG1L,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL4R,IQCK,ITPRIPL2,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100190986,LOC100271836,LOC100506655,LOC554206,LOC653786,LOC81691,LYRM1,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR548AA2,MIR548D2,NDUFAB1,NOMO2,NPIPL3,NSMCE1,OTOA,PALB2,PDILT,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RPS15A,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SLC7A5P2,SMG1,SMG1P1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,TNRC6A,UBFD1,UMOD,UQCRC2,USP31,VWA3A,XYLT1,ZKSCAN2,ZP2 chr16 16800000 34600000 Deletion Hepatocellular carcinoma Array CGH 16750200 ABCC6P1,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,AHSP,ALDOA,ANKS4B,APOBR,AQP8,ARHGAP17,ARL6IP1,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf52,C16orf53,C16orf54,C16orf58,C16orf62,C16orf82,C16orf88,C16orf92,C16orf93,CACNG3,CCDC101,CCP110,CD19,CD2BP2,CDIPT,CDR2,CHP2,CLEC19A,CLN3,COG7,COQ7,CORO1A,COX6A2,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DNAH3,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,ERI2,ERN2,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FUS,GDE1,GDPD3,GGA2,GP2,GPR139,GPRC5B,GSG1L,GTF3C1,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,INO80E,IQCK,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,KAT8,KCTD13,KDM8,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC729264,LOC730183,LOC81691,LYRM1,MAPK3,MAZ,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR4517,MIR4518,MIR4519,MIR4721,MIR548AA2,MIR548D2,MIR762,MVP,MYLPF,NDUFAB1,NFATC2IP,NOMO2,NPIPL3,NSMCE1,NUPR1,ORAI3,OTOA,PALB2,PDILT,PDZD9,PHKG2,PLK1,POLR3E,PPP4C,PRKCB,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RNF40,RNU6-76,RPS15A,RRN3P1,RRN3P2,RRN3P3,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1,SMG1P1,SNORA30,SNX29P1,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYT17,TAOK2,TBC1D10B,TBX6,TGFB1I1,THUMPD1,TMC5,TMC7,TMEM159,TMEM219,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,UBFD1,UMOD,UQCRC2,USP31,VKORC1,VWA3A,XPO6,XYLT1,YPEL3,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2 chr16 16815143 16862093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 16832614 16851231 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 16835304 16853911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 16839427 16848902 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 16839429 16862703 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 16839701 16849500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 16841865 16847915 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 168553 168655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 16882507 16917223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 1691 3351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1696195 1760319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRAMP1L,HN1L,MAPK8IP3 chr16 1696195 1760319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRAMP1L,HN1L,MAPK8IP3 chr16 1696221 1760319 Gain or loss Breast cancer - 20668451 CRAMP1L,HN1L,MAPK8IP3 chr16 1696221 1760319 Gain or loss Cancer - 20668451 CRAMP1L,HN1L,MAPK8IP3 chr16 1696221 1760319 Gain or loss Lung cancer - 20668451 CRAMP1L,HN1L,MAPK8IP3 chr16 1696221 1760319 Gain or loss Ovarian cancer - 20668451 CRAMP1L,HN1L,MAPK8IP3 chr16 1696221 1760319 Gain or loss Pancreas cancer - 20668451 CRAMP1L,HN1L,MAPK8IP3 chr16 1696221 1760319 Gain or loss Prostate cancer - 20668451 CRAMP1L,HN1L,MAPK8IP3 chr16 1696222 1760318 Gain and loss Pancreatic cancer SNP array 17952125 CRAMP1L,HN1L,MAPK8IP3 chr16 1698156 1698245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRAMP1L chr16 170335 171178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 170335 171178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPRL3 chr16 17033719 17033796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 17097559 17097819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 17103682 17472239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XYLT1 chr16 17103682 17472239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XYLT1 chr16 17108840 17472239 Gain and loss Pancreatic cancer SNP array 17952125 XYLT1 chr16 1713685 1713780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRAMP1L chr16 17145513 17153244 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 17148382 17148482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1716501 1749000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRAMP1L,HN1L chr16 17166718 17166818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 17191322 17191392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 17257626 17267859 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 XYLT1 chr16 17337098 17383146 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 XYLT1 chr16 17380359 17380449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XYLT1 chr16 17383150 17387147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XYLT1 chr16 17383151 17387148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XYLT1 chr16 17389754 17389854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XYLT1 chr16 17415822 17415922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XYLT1 chr16 17453780 17488286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 XYLT1 chr16 1747781 1794541 Gain Autism - 20841430 HN1L,MAPK8IP3,MIR3177 chr16 17480600 18293192 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 XYLT1 chr16 1749001 1784500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HN1L,MAPK8IP3 chr16 175341 175602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPRL3 chr16 17564264 17564310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XYLT1 chr16 17571760 17572374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 1760323 1761711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1760323 1761711 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8IP3 chr16 1760323 1761711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 176034 176577 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NPRL3 chr16 17611900 17611981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1761892 1763152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1761892 1763152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1761896 1763141 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAPK8IP3 chr16 1761898 1763141 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8IP3 chr16 1763230 1770629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1763230 1770629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1763328 1770629 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8IP3 chr16 17638461 17638536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 61765587 61798449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NFIA chr16 1766715 1772582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1766715 1772582 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8IP3 chr16 1766715 1772582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1770657 1779187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1770657 1779187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1772934 1779185 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8IP3 chr16 17733404 22344171 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCC6P1,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,ARL6IP1,C16orf52,C16orf62,C16orf88,CCP110,CLEC19A,COQ7,CRYM,CRYM-AS1,DCUN1D3,DNAH3,EEF2K,ERI2,GDE1,GP2,GPR139,GPRC5B,IGSF6,IQCK,ITPRIPL2,LOC100190986,LOC100271836,LOC81691,LYRM1,METTL9,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,NPIPL3,OTOA,PDILT,PDZD9,POLR3E,RPS15A,RRN3P1,SLC7A5P2,SMG1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,UMOD,UQCRC2,VWA3A,ZP2 chr16 17744652 17763105 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 17744652 17763521 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 17745401 17745493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 17755307 17755521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 17756171 17756269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 17798291 17798492 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 1780417 1783735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1780417 1783735 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8IP3 chr16 1780417 1783735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1781381 1781476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPK8IP3 chr16 1784501 1806500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPK8IP3,MIR3177 chr16 178971 219450 Gain and loss Pancreatic cancer SNP array 17952125 HBM,HBZ,NPRL3 chr16 178971 219463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HBM,HBZ,NPRL3 chr16 178971 219463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HBM,HBZ,NPRL3 chr16 1 7900000 Amplification Familial mediterranean fever MLPA 18648395 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Copy number Autism Illumina Infinium II HumanHap550 BeadChip 19546859 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Copy number Tourette syndrome Illumina Infinium II HumanHap550 BeadChip 19546859 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Copy number Tuberous sclerosis References 19566914 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Deletion Colorectal cancer GISTIC software 19359472 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Gain Basal cell lymphoma Array CGH 19029149 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Gain Gastric cancer Array CGH 16891809 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Loss and deletion Multiple myeloma Array CGH 16616336 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 7900000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 1 792220 LOH Normal High-resolution SNP genotyping 21211785 ARHGDIG,AXIN1,C16orf11,C16orf13,CCDC78,DDX11L10,DECR2,FAM173A,FAM195A,FBXL16,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,JMJD8,LINC00235,LOC100134368,LUC7L,METRN,MIR3176,MIR5587,MPG,MRPL28,NARFL,NHLRC4,NME4,NPRL3,PDIA2,PIGQ,POLR3K,RAB11FIP3,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,SNRNP25,SOLH,STUB1,TMEM8A,WDR24,WDR90,WFIKKN1 chr16 17934095 17934631 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 6179347 6193945 Gain and loss Pancreatic cancer SNP array 17952125 CHD5 chr1 61795600 61795679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIA chr16 1799109 1817163 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8IP3 chr16 1799109 1817196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 1799109 1817196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK8IP3 chr16 18000444 18293192 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 18025304 18028026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 18036757 18293192 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 18036757 18771465 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18036757 19066807 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ABCC6P1,ARL6IP1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,RPS15A,SMG1,TMC7 chr16 18036757 19066807 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P1,ARL6IP1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,RPS15A,SMG1,TMC7 chr16 18044072 18044172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 18045847 18045947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 18049351 18049416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1806501 1813000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPK8IP3 chr16 18069699 18675939 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr1 6180833 6193921 Deletion T-cell lymphomas Array-CGH 22341440 CHD5 chr16 18108163 18577489 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18108163 18771465 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18108163 18771465 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 1 811290 LOH Normal High-resolution SNP genotyping 21211785 ARHGDIG,AXIN1,C16orf11,C16orf13,CCDC78,DDX11L10,DECR2,FAM173A,FAM195A,FBXL16,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,JMJD8,LINC00235,LOC100134368,LUC7L,METRN,MIR3176,MIR5587,MPG,MRPL28,MSLN,NARFL,NHLRC4,NME4,NPRL3,PDIA2,PIGQ,POLR3K,RAB11FIP3,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,SNRNP25,SOLH,STUB1,TMEM8A,WDR24,WDR90,WFIKKN1 chr16 1813001 1892500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EME2,FAHD1,HAGH,IGFALS,MAPK8IP3,MEIOB,MRPS34,NME3,NUBP2,SPSB3 chr16 18139977 18140045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 18149209 18860765 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCC6P1,ARL6IP1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,RPS15A,SMG1 chr16 18152877 18728692 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18171589 18483758 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 1817226 1818909 Gain and loss Pancreatic cancer SNP array 17952125 MAPK8IP3 chr16 1817227 1830173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EME2,MAPK8IP3,MRPS34,NME3,SPSB3 chr16 1817227 1830173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EME2,MAPK8IP3,MRPS34,NME3,SPSB3 chr16 18207840 18285452 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr16 1821189 1822881 Loss Normal 244K array 17666407 MRPS34,NME3 chr16 18213251 18383250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 1823990 1867442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EME2,HAGH,IGFALS,NUBP2,SPSB3 chr16 1823990 1867442 Gain and loss Pancreatic cancer SNP array 17952125 EME2,HAGH,IGFALS,NUBP2,SPSB3 chr16 1823990 1867442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EME2,HAGH,IGFALS,NUBP2,SPSB3 chr1 61825811 61831251 Loss or gain Normal 244K array 17666407 NFIA chr16 18309681 18385113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 18319307 18348632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 61831939 61833212 Gain and loss Pancreatic cancer SNP array 17952125 NFIA chr16 18336886 18459088 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 18359458 18378197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 18359460 18374143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 18383251 18420750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 18399295 18399392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 18399295 18399394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 18399296 18399392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 18405310 18577489 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18405310 18771465 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18418684 18480909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 18418684 18480999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 18418684 18480999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 18420751 18722000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18459088 18483758 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 18464209 18690675 Duplication Normal Affymetrix 6.0 microarrays 20967226 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18464209 18712548 Duplication Normal Affymetrix 6.0 microarrays 20967226 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18483758 18501900 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MIR3180-1,MIR3180-2,MIR3180-3 chr16 18483758 18673730 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 chr16 18501900 18501901 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 18501901 18550718 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MIR3179-1,MIR3179-2,MIR3179-3,NOMO2 chr1 61852934 61853061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIA chr1 61853010 61853110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIA chr1 61853401 61857900 Deletion Glioma mate-paired sequence 20126413 NFIA chr1 61853831 61856325 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NFIA chr16 18550718 18585612 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ABCC6P1,NOMO2 chr1 61855446 61856289 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFIA chr16 18577196 18687445 Loss Normal 244K array 17666407 ABCC6P1 chr16 18585612 18656077 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ABCC6P1 chr1 61861129 61902813 Gain and loss Pancreatic cancer SNP array 17952125 NFIA chr16 18656077 18675619 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 18673 31889621 Copy number Lung cancer paired-end sequencing 18438408 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC388242,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 18687337 18728692 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr16 18689806 18697579 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr16 18698319 21372771 Substitutions and indels small cell lung cancer array-CGH 20016488 ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,ARL6IP1,C16orf62,C16orf88,CCP110,CLEC19A,COQ7,CRYM,CRYM-AS1,DCUN1D3,DNAH3,ERI2,GDE1,GP2,GPR139,GPRC5B,IQCK,ITPRIPL2,LOC81691,LYRM1,PDILT,RPS15A,SMG1,SNX29P1,SYT17,THUMPD1,TMC5,TMC7,TMEM159,UMOD,ZP2 chr16 18701779 18709157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 18701779 18709157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 18701790 18709157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 18710491 18720358 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr16 18710492 18720367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 18710492 18720367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 18710492 18720367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 18711302 18713341 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr16 18715597 18758579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 18718010 18754207 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 18723677 18844887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL6IP1,RPS15A,SMG1 chr16 18723677 18844887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL6IP1,RPS15A,SMG1 chr16 18726750 18845239 Gain and loss Pancreatic cancer SNP array 17952125 ARL6IP1,RPS15A,SMG1 chr16 18728269 19332896 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ARL6IP1,CLEC19A,COQ7,ITPRIPL2,RPS15A,SMG1,SYT17,TMC7 chr16 18729396 18751596 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 18738101 18747700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 18740026 18745877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 6187501 6195000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHD5 chr16 18751518 18784350 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 61876870 61876970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIA chr16 18788991 18789092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 18788991 18789092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1883249 1883353 Gain and loss Pancreatic cancer SNP array 17952125 FAHD1 chr16 18844001 19033500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMG1,TMC7 chr1 6188477 6203946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr1 6188477 6203946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr1 61884829 61892114 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NFIA chr1 61884829 61892114 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NFIA chr1 61885937 61891525 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NFIA chr1 61885937 61891525 Total allelic loss Normal High-resolution SNP genotyping 21211785 NFIA chr1 61886002 61892107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFIA chr16 18865289 18890516 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SMG1 chr1 61886582 61890763 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NFIA chr1 61886594 61890775 Loss Normal Birdsuite, version 1.5.2 22087296 NFIA chr16 1887010 1893847 Gain and loss Pancreatic cancer SNP array 17952125 FAHD1,MEIOB chr16 1 88827254 Deletion,amplification,duplication Normal Affymetrix 250K SNP array 21412953 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Deletion Autism - 19415332 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Deletion Medulloblastoma SNP arrays 21979893 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Gain Acute lymphoblastic leukemia array CGH 17690704 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Gain Esophageal squamous carcinoma CGH 21637470 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Gain Glioblastoma multiforme aCGH 21080181 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Gain Glioblastoma multiforme conventional CGH 21080181 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Gain Normal - 21541734 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Loss Glioblastoma multiforme aCGH 21080181 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 1 88827254 Loss Glioblastoma multiforme conventional CGH 21080181 AARS,ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,AXIN1,B3GNT9,BAIAP3,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf95,C16orf96,C1QTNF8,CA5A,CA7,CACNA1H,CACNG3,CALB2,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CEMP1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DDX19A,DDX19B,DDX28,DECR2,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HP,HPR,HS3ST2,HS3ST4,HS3ST6,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IFT140,IGFALS,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00235,LINC00254,LINC00273,LINC00311,LINC00514,LITAF,LMF1,LOC100128770,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LUC7L,LYRM1,MAF,MAP1LC3B,MAPK3,MAPK8IP3,MARVELD3,MAZ,MBTPS1,MEFV,MEIOB,METRN,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR1225,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR3182,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLKL,MLST8,MLYCD,MMP15,MMP2,MMP25,MON1B,MPG,MPHOSPH6,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PGP,PHKB,PHKG2,PHLPP2,PIEZO1,PIGQ,PKD1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RGS11,RHBDF1,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF166,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA70D,SNORA78,SNORD111,SNORD111B,SNORD60,SNORD71,SNRNP25,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,ST3GAL2,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYNGR3,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM204,TMEM208,TMEM219,TMEM231,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,TXNL4B,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR59,WDR90,WFDC1,WFIKKN1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 18890521 18901688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMG1 chr16 18902426 19007308 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SMG1,TMC7 chr16 18902828 18982000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMG1 chr16 18902828 18982000 Gain and loss Pancreatic cancer SNP array 17952125 SMG1 chr16 18902828 18982000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG1 chr1 6189132 6939396 LOH Normal High-resolution SNP genotyping 21211785 ACOT7,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KLHL21,MIR4252,NOL9,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr1 61892291 62734672 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 INADL,KANK4,L1TD1,NFIA,TM2D1 chr1 61892409 61893162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIA chr16 1892501 2117500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GFER,HS3ST6,LINC00254,MEIOB,MSRB1,NDUFB10,NOXO1,NPW,NTHL1,RNF151,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,TSC2,ZNF598 chr16 18930980 18931084 Gain and loss Pancreatic cancer SNP array 17952125 SMG1 chr16 18930980 18931086 Gain and loss Pancreatic cancer SNP array 17952125 SMG1 chr16 18930980 18931086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG1 chr1 61894616 64917453 Copy number gain Normal High-resolution SNP genotyping 21211785 ALG6,ANGPTL3,ATG4C,DLEU2L,DOCK7,EFCAB7,FOXD3,INADL,ITGB3BP,KANK4,L1TD1,LINC00466,NFIA,PGM1,ROR1,TM2D1,UBE2U,USP1 chr16 18986428 18998851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMC7 chr16 18986428 18998851 Gain and loss Pancreatic cancer SNP array 17952125 TMC7 chr16 18986428 18998851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC7 chr16 19000301 19531600 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC19A,COQ7,GDE1,ITPRIPL2,SYT17,TMC5,TMC7 chr16 1901465 1908325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEIOB chr16 1901465 1908325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEIOB chr16 1901592 1908442 Gain and loss Pancreatic cancer SNP array 17952125 MEIOB chr16 19032783 19040447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMC7 chr16 19032783 19040447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC7 chr16 19033501 19035000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMC7 chr1 61904357 62283606 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 INADL,NFIA,TM2D1 chr16 19074715 19186055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COQ7,ITPRIPL2,SYT17,TMC7 chr16 19074715 19186055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COQ7,ITPRIPL2,SYT17,TMC7 chr1 61907700 64917453 Copy number gain Normal High-resolution SNP genotyping 21211785 ALG6,ANGPTL3,ATG4C,DLEU2L,DOCK7,EFCAB7,FOXD3,INADL,ITGB3BP,KANK4,L1TD1,LINC00466,NFIA,PGM1,ROR1,TM2D1,UBE2U,USP1 chr16 19087138 19186055 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 COQ7,ITPRIPL2,SYT17 chr16 19087139 19186055 Gain and loss Pancreatic cancer SNP array 17952125 COQ7,ITPRIPL2,SYT17 chr16 19119432 19794974 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C16orf62,C16orf88,CCP110,CLEC19A,GDE1,IQCK,ITPRIPL2,SYT17,TMC5 chr16 19119432 19998146 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C16orf62,C16orf88,CCP110,CLEC19A,GDE1,GPRC5B,IQCK,ITPRIPL2,SYT17,TMC5 chr16 19125908 19125943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPRIPL2 chr16 19137931 19138282 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 19137931 19138282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 19158609 19158688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 1918183 1923083 Gain Normal 244K array 17666407 MEIOB chr1 61919305 61963683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFIA chr1 61919305 61963683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIA chr1 61920170 62338628 Gain and loss Pancreatic cancer SNP array 17952125 INADL,NFIA,TM2D1 chr16 19204602 19223223 Gain and loss Pancreatic cancer SNP array 17952125 SYT17 chr16 19204602 19227914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYT17 chr16 19204602 19227914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT17 chr16 1921079 1921658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEIOB chr16 1923664 2618557 LOH Normal High-resolution SNP genotyping 21211785 ABCA17P,ABCA3,AMDHD2,ATP6V0C,C16orf59,C16orf79,CASKIN1,CCNF,CEMP1,DNASE1L2,E4F1,ECI1,GFER,HS3ST6,LINC00254,MIR1225,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR940,MLST8,MSRB1,NDUFB10,NOXO1,NPW,NTHL1,NTN3,PDPK1,PGP,PKD1,RAB26,RNF151,RNPS1,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SYNGR3,TBC1D24,TBL3,TRAF7,TSC2,ZNF598 chr16 19244349 19244412 Gain and loss Pancreatic cancer SNP array 17952125 SYT17 chr16 19244349 19244412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYT17 chr16 19276851 19276919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT17 chr16 1928212 1933328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00254 chr16 1928212 1933328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00254 chr16 1928234 1933295 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 LINC00254 chr16 1928236 1933295 Gain and loss Pancreatic cancer SNP array 17952125 LINC00254 chr16 19285100 19285200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 19286468 19312266 Gain and loss Pancreatic cancer SNP array 17952125 CLEC19A chr16 19308276 19321487 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CLEC19A chr16 19329558 19417936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 19329558 19417936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 19332908 19927042 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 C16orf62,C16orf88,CCP110,GDE1,GPRC5B,IQCK,TMC5 chr16 19336 28321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1933977 1944672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00254 chr16 1933977 1944672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00254 chr16 1934582 1944680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 19375273 19417451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 19413818 19414136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 19414136 19419503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 19417433 19417570 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 19417433 19417570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 19417433 19417573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 19420518 19440951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMC5 chr16 19420518 19440951 Gain and loss Pancreatic cancer SNP array 17952125 TMC5 chr16 19420518 19440951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC5 chr16 19442679 122979707 Copy number Lung cancer - 20668451 AARS,ABCC11,ABCC12,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD11,ANKRD26P1,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARMC5,ASPHD1,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCKDK,BCL7C,BCMO1,BEAN1,BOLA2,BOLA2B,BRD7,C16orf3,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA5A,CA7,CACNG3,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GSG1L,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,METTL9,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4517,MIR4518,MIR4519,MIR4719,MIR4720,MIR4721,MIR4722,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR762,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MVP,MYLK3,MYLPF,N4BP1,NAE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NPIPL3,NQO1,NRN1L,NSMCE1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAPD5,PARD6A,PDF,PDILT,PDP2,PDPR,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,POLR2C,POLR3E,PPP4C,PRDM7,PRKCB,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNF40,RNU6-76,RPGRIP1L,RPL13,RRAD,RRN3P1,RRN3P2,RRN3P3,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SMPD3,SNAI3,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29P1,SNX29P2,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TCF25,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMCO7,TMED6,TMEM159,TMEM170A,TMEM208,TMEM219,TMEM231,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,YPEL3,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF276,ZNF319,ZNF423,ZNF469,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 19442679 122979707 Gain or loss Breast cancer - 20668451 AARS,ABCC11,ABCC12,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD11,ANKRD26P1,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARMC5,ASPHD1,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCKDK,BCL7C,BCMO1,BEAN1,BOLA2,BOLA2B,BRD7,C16orf3,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA5A,CA7,CACNG3,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GSG1L,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,METTL9,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4517,MIR4518,MIR4519,MIR4719,MIR4720,MIR4721,MIR4722,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR762,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MVP,MYLK3,MYLPF,N4BP1,NAE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NPIPL3,NQO1,NRN1L,NSMCE1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAPD5,PARD6A,PDF,PDILT,PDP2,PDPR,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,POLR2C,POLR3E,PPP4C,PRDM7,PRKCB,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNF40,RNU6-76,RPGRIP1L,RPL13,RRAD,RRN3P1,RRN3P2,RRN3P3,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SMPD3,SNAI3,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29P1,SNX29P2,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TCF25,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMCO7,TMED6,TMEM159,TMEM170A,TMEM208,TMEM219,TMEM231,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,YPEL3,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF276,ZNF319,ZNF423,ZNF469,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 19442679 122979707 Gain or loss Cancer - 20668451 AARS,ABCC11,ABCC12,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD11,ANKRD26P1,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARMC5,ASPHD1,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCKDK,BCL7C,BCMO1,BEAN1,BOLA2,BOLA2B,BRD7,C16orf3,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA5A,CA7,CACNG3,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GSG1L,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,METTL9,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4517,MIR4518,MIR4519,MIR4719,MIR4720,MIR4721,MIR4722,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR762,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MVP,MYLK3,MYLPF,N4BP1,NAE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NPIPL3,NQO1,NRN1L,NSMCE1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAPD5,PARD6A,PDF,PDILT,PDP2,PDPR,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,POLR2C,POLR3E,PPP4C,PRDM7,PRKCB,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNF40,RNU6-76,RPGRIP1L,RPL13,RRAD,RRN3P1,RRN3P2,RRN3P3,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SMPD3,SNAI3,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29P1,SNX29P2,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TCF25,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMCO7,TMED6,TMEM159,TMEM170A,TMEM208,TMEM219,TMEM231,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,YPEL3,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF276,ZNF319,ZNF423,ZNF469,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 19442679 122979707 Gain or loss Lung cancer - 20668451 AARS,ABCC11,ABCC12,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD11,ANKRD26P1,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARMC5,ASPHD1,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCKDK,BCL7C,BCMO1,BEAN1,BOLA2,BOLA2B,BRD7,C16orf3,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA5A,CA7,CACNG3,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GSG1L,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,METTL9,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4517,MIR4518,MIR4519,MIR4719,MIR4720,MIR4721,MIR4722,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR762,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MVP,MYLK3,MYLPF,N4BP1,NAE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NPIPL3,NQO1,NRN1L,NSMCE1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAPD5,PARD6A,PDF,PDILT,PDP2,PDPR,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,POLR2C,POLR3E,PPP4C,PRDM7,PRKCB,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNF40,RNU6-76,RPGRIP1L,RPL13,RRAD,RRN3P1,RRN3P2,RRN3P3,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SMPD3,SNAI3,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29P1,SNX29P2,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TCF25,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMCO7,TMED6,TMEM159,TMEM170A,TMEM208,TMEM219,TMEM231,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,YPEL3,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF276,ZNF319,ZNF423,ZNF469,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 19442679 122979707 Gain or loss Ovarian cancer - 20668451 AARS,ABCC11,ABCC12,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD11,ANKRD26P1,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARMC5,ASPHD1,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCKDK,BCL7C,BCMO1,BEAN1,BOLA2,BOLA2B,BRD7,C16orf3,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA5A,CA7,CACNG3,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GSG1L,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,METTL9,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4517,MIR4518,MIR4519,MIR4719,MIR4720,MIR4721,MIR4722,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR762,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MVP,MYLK3,MYLPF,N4BP1,NAE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NPIPL3,NQO1,NRN1L,NSMCE1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAPD5,PARD6A,PDF,PDILT,PDP2,PDPR,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,POLR2C,POLR3E,PPP4C,PRDM7,PRKCB,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNF40,RNU6-76,RPGRIP1L,RPL13,RRAD,RRN3P1,RRN3P2,RRN3P3,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SMPD3,SNAI3,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29P1,SNX29P2,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TCF25,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMCO7,TMED6,TMEM159,TMEM170A,TMEM208,TMEM219,TMEM231,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,YPEL3,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF276,ZNF319,ZNF423,ZNF469,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 19442679 122979707 Gain or loss Pancreas cancer - 20668451 AARS,ABCC11,ABCC12,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD11,ANKRD26P1,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARMC5,ASPHD1,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCKDK,BCL7C,BCMO1,BEAN1,BOLA2,BOLA2B,BRD7,C16orf3,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA5A,CA7,CACNG3,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GSG1L,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,METTL9,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4517,MIR4518,MIR4519,MIR4719,MIR4720,MIR4721,MIR4722,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR762,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MVP,MYLK3,MYLPF,N4BP1,NAE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NPIPL3,NQO1,NRN1L,NSMCE1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAPD5,PARD6A,PDF,PDILT,PDP2,PDPR,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,POLR2C,POLR3E,PPP4C,PRDM7,PRKCB,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNF40,RNU6-76,RPGRIP1L,RPL13,RRAD,RRN3P1,RRN3P2,RRN3P3,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SMPD3,SNAI3,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29P1,SNX29P2,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TCF25,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMCO7,TMED6,TMEM159,TMEM170A,TMEM208,TMEM219,TMEM231,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,YPEL3,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF276,ZNF319,ZNF423,ZNF469,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 19442679 122979707 Gain or loss Prostate cancer - 20668451 AARS,ABCC11,ABCC12,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD11,ANKRD26P1,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARMC5,ASPHD1,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCKDK,BCL7C,BCMO1,BEAN1,BOLA2,BOLA2B,BRD7,C16orf3,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA5A,CA7,CACNG3,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GSG1L,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,METTL9,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4517,MIR4518,MIR4519,MIR4719,MIR4720,MIR4721,MIR4722,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR762,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MVP,MYLK3,MYLPF,N4BP1,NAE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NPIPL3,NQO1,NRN1L,NSMCE1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAPD5,PARD6A,PDF,PDILT,PDP2,PDPR,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,POLR2C,POLR3E,PPP4C,PRDM7,PRKCB,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNF40,RNU6-76,RPGRIP1L,RPL13,RRAD,RRN3P1,RRN3P2,RRN3P3,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SMPD3,SNAI3,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29P1,SNX29P2,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TCF25,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMCO7,TMED6,TMEM159,TMEM170A,TMEM208,TMEM219,TMEM231,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,YPEL3,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF276,ZNF319,ZNF423,ZNF469,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 19442709 19472231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMC5 chr16 19442709 19472231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC5 chr16 19446689 19472227 Gain and loss Pancreatic cancer SNP array 17952125 TMC5 chr16 19474541 19619943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf62,CCP110,GDE1,TMC5 chr16 19474541 19619943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf62,CCP110,GDE1,TMC5 chr16 19474541 19619949 Gain and loss Pancreatic cancer SNP array 17952125 C16orf62,CCP110,GDE1,TMC5 chr16 1949520 1951977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1949520 1951977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1949521 1951977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 6195001 6196000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHD5 chr16 19511205 19543572 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCP110,GDE1 chr16 19516041 19516122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDE1 chr16 1952063 1954828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1952063 1954828 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1952063 1954828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 19522482 19539029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCP110,GDE1 chr16 1952336 1952468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1952336 1952468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1952975 1953108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1952975 1953108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 19531601 19759300 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf62,C16orf88,CCP110,GDE1,IQCK chr16 1957275 1958977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1957275 1958977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1957276 1958949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 6196001 6223000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHD5 chr16 19600721 19895615 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 C16orf62,C16orf88,GPRC5B,IQCK chr16 1962065 1968752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HS3ST6 chr16 1962065 1968752 Gain and loss Pancreatic cancer SNP array 17952125 HS3ST6 chr16 1962065 1968752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS3ST6 chr16 19625177 19633079 Gain and loss Pancreatic cancer SNP array 17952125 C16orf62 chr16 19625177 19636993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf62 chr16 19635279 19776358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf62,C16orf88,IQCK chr16 19635279 19776358 Gain and loss Pancreatic cancer SNP array 17952125 C16orf62,C16orf88,IQCK chr16 19635279 19776358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf62,C16orf88,IQCK chr16 19646235 19691514 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 C16orf62 chr16 19681970 19682062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf62 chr16 1968920 1971441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1968920 1971551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1968920 1971551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1974151 1977747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1974151 1977747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1974215 1977750 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 19759301 20315900 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR139,GPRC5B,IQCK chr16 19777793 19803652 Gain or loss Breast cancer - 20668451 IQCK chr16 19777793 19803652 Gain or loss Cancer - 20668451 IQCK chr16 19777793 19803652 Gain or loss Lung cancer - 20668451 IQCK chr16 19777793 19803652 Gain or loss Ovarian cancer - 20668451 IQCK chr16 19777793 19803652 Gain or loss Pancreas cancer - 20668451 IQCK chr16 19777793 19803652 Gain or loss Prostate cancer - 20668451 IQCK chr16 19777796 19803652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQCK chr16 19777796 19803652 Gain and loss Pancreatic cancer SNP array 17952125 IQCK chr16 19777796 19803652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQCK chr16 1979969 1984276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 1979969 1984276 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 1979969 1984276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 61980737 62402180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INADL,TM2D1 chr1 61980737 62402180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL,TM2D1 chr16 19841415 19842073 Gain Normal 244K array 17666407 IQCK chr16 19848625 19887830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPRC5B,IQCK chr16 19851865 19877742 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 GPRC5B,IQCK chr16 19853027 19867380 Loss Normal 244K array 17666407 IQCK chr16 19853044 19874003 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GPRC5B,IQCK chr16 19853051 19875086 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GPRC5B,IQCK chr16 19853052 19875080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPRC5B,IQCK chr16 19853139 19874851 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPRC5B,IQCK chr16 19853139 19874851 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPRC5B,IQCK chr16 19853151 19874863 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPRC5B,IQCK chr16 19853151 19874863 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GPRC5B,IQCK chr16 19853735 19874891 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 GPRC5B,IQCK chr16 19853735 19874891 Total allelic loss Normal High-resolution SNP genotyping 21211785 GPRC5B,IQCK chr16 19853735 19883063 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 GPRC5B,IQCK chr16 19853735 19883063 Total allelic loss Normal High-resolution SNP genotyping 21211785 GPRC5B,IQCK chr16 19853735 19889381 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 GPRC5B,IQCK chr16 19853735 19889381 Total allelic loss Normal High-resolution SNP genotyping 21211785 GPRC5B,IQCK chr16 19854635 19873364 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPRC5B,IQCK chr16 19872430 19872528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPRC5B chr1 61987338 62027964 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 1987768 1999764 Gain or loss Breast cancer - 20668451 MSRB1,RPL3L chr16 1987768 1999764 Gain or loss Cancer - 20668451 MSRB1,RPL3L chr16 1987768 1999764 Gain or loss Lung cancer - 20668451 MSRB1,RPL3L chr16 1987768 1999764 Gain or loss Ovarian cancer - 20668451 MSRB1,RPL3L chr16 1987768 1999764 Gain or loss Pancreas cancer - 20668451 MSRB1,RPL3L chr16 1987768 1999764 Gain or loss Prostate cancer - 20668451 MSRB1,RPL3L chr16 1987769 1999745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSRB1,RPL3L chr16 1987769 1999745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSRB1,RPL3L chr16 1987769 1999790 Gain and loss Pancreatic cancer SNP array 17952125 MSRB1,RPL3L chr16 19895982 19900042 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPRC5B chr16 19927240 19990093 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr16 1993286 1993400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MSRB1 chr1 61994112 61994216 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 61994113 61994210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 19950308 19992740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 19950308 19992740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 19950558 19951722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 6199801 6202638 Deletion T-cell lymphomas Array-CGH 22341440 CHD5 chr1 6199801 6202638 Gain and loss Pancreatic cancer SNP array 17952125 CHD5 chr16 19992009 20085436 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 GPR139 chr16 19996000 19996100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 62000379 62000474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 20004655 20004755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2003182 2003478 Gain and loss Pancreatic cancer SNP array 17952125 RPL3L chr16 2003183 2003476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPL3L chr16 2003183 2003478 Gain and loss Pancreatic cancer SNP array 17952125 RPL3L chr16 2004574 2970133 LOH Normal High-resolution SNP genotyping 21211785 ABCA17P,ABCA3,AMDHD2,ATP6V0C,C16orf59,C16orf79,CASKIN1,CCNF,CEMP1,DNASE1L2,E4F1,ECI1,ERVK13-1,FLJ42627,FLYWCH1,FLYWCH2,GFER,KCTD5,LOC652276,MIR1225,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR940,MLST8,NDUFB10,NOXO1,NPW,NTHL1,NTN3,PDPK1,PGP,PKD1,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,RAB26,RNF151,RNPS1,RPL3L,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SRRM2,SRRM2-AS1,SYNGR3,TBC1D24,TBL3,TCEB2,TRAF7,TSC2,ZG16B,ZNF598 chr16 20050109 20085117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR139 chr16 20080251 20081280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR139 chr16 20080543 20123190 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 GPR139 chr16 20085150 20085220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2009522 2010756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFB10 chr16 2009742 2010680 Gain and loss Pancreatic cancer SNP array 17952125 NDUFB10 chr16 2011390 2011490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFB10 chr16 20124010 20145478 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr16 20145547 20213816 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr16 20156703 20251696 Copy number Normal Quantitative Real-Time PCR 17666543 NOT_FOUND chr16 20162368 20162468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2016897 2028481 Gain and loss Pancreatic cancer SNP array 17952125 RNF151,TBL3 chr16 2016924 2028481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF151,TBL3 chr16 2016924 2028481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF151,TBL3 chr16 20176898 20176979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 20182174 20182242 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 20228397 20246403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 20228397 20246403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 20228398 20246336 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 20250073 20306344 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 20251874 20271538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 20251874 20271538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 20251875 20271538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 20258087 20292269 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 20268069 20268169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 20277998 20323560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GP2 chr16 20277998 20323560 Gain and loss Pancreatic cancer SNP array 17952125 GP2 chr16 20277998 20323560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GP2 chr16 2029817 2037868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GFER,NOXO1 chr16 2029817 2037868 Gain and loss Pancreatic cancer SNP array 17952125 GFER,NOXO1 chr16 2029817 2037868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFER,NOXO1 chr1 62030192 62030295 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 20315901 21201400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,DCUN1D3,DNAH3,ERI2,GP2,LOC81691,LYRM1,PDILT,THUMPD1,TMEM159,UMOD chr1 6203186 6215125 Gain and loss Pancreatic cancer SNP array 17952125 CHD5 chr16 20322423 20322468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GP2 chr16 20328357 20360149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GP2,UMOD chr16 20328357 20360149 Gain and loss Pancreatic cancer SNP array 17952125 GP2,UMOD chr16 20328357 20360149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GP2,UMOD chr16 20340850 20341850 Gain Osteosarcoma References 21215367 NOT_FOUND chr16 20363540 20363641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UMOD chr16 20370399 20406490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDILT chr16 20370399 20406490 Gain and loss Pancreatic cancer SNP array 17952125 PDILT chr16 20370399 20406490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDILT chr16 2037990 2078714 Gain or loss Breast cancer - 20668451 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 2037990 2078714 Gain or loss Cancer - 20668451 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 2037990 2078714 Gain or loss Lung cancer - 20668451 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 2037990 2078714 Gain or loss Ovarian cancer - 20668451 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 2037990 2078714 Gain or loss Pancreas cancer - 20668451 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 2037990 2078714 Gain or loss Prostate cancer - 20668451 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 2037991 2078713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 2037991 2078713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPW,SLC9A3R2,SYNGR3,ZNF598 chr1 6203840 6218631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr1 6203840 6218631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr16 2038515 2078636 Amplification or deletion Cancer Array CGH 17440070 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 2038588 2078713 Gain and loss Pancreatic cancer SNP array 17952125 NPW,SLC9A3R2,SYNGR3,ZNF598 chr16 20388066 20388166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDILT chr16 20392371 20943327 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,DCUN1D3,ERI2,LOC81691,LYRM1,PDILT,THUMPD1 chr16 20400262 20466261 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACSM2A,ACSM5,PDILT chr16 20403543 20407769 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PDILT chr16 20406525 20408482 Gain and loss Pancreatic cancer SNP array 17952125 PDILT chr16 20420270 20440143 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACSM5 chr16 20453641 20464612 Gain Normal Birdsuite, version 1.5.2 22087296 ACSM2A chr16 20455086 20495135 Gain and loss Pancreatic cancer SNP array 17952125 ACSM2A chr16 20455588 20495196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSM2A chr16 20455588 20495196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM2A chr1 62046740 62046830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 20500000 34400000 Deletion Mental retardation References 19951919 ACSM1,ACSM2B,ACSM3,AHSP,ALDOA,ANKS4B,APOBR,AQP8,ARHGAP17,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf52,C16orf53,C16orf54,C16orf58,C16orf82,C16orf92,C16orf93,CACNG3,CCDC101,CD19,CD2BP2,CDIPT,CDR2,CHP2,CLN3,COG7,CORO1A,COX6A2,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DNAH3,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,ERI2,ERN2,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FUS,GDPD3,GGA2,GSG1L,GTF3C1,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KDM8,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC729264,LOC730183,LOC81691,LYRM1,MAPK3,MAZ,METTL9,MIR4517,MIR4518,MIR4519,MIR4721,MIR548AA2,MIR548D2,MIR762,MVP,MYLPF,NDUFAB1,NFATC2IP,NPIPL3,NSMCE1,NUPR1,ORAI3,OTOA,PALB2,PDZD9,PHKG2,PLK1,POLR3E,PPP4C,PRKCB,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RNF40,RNU6-76,RRN3P1,RRN3P2,RRN3P3,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SNORA30,SNX29P1,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,THUMPD1,TMEM159,TMEM219,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBFD1,UQCRC2,USP31,VKORC1,VWA3A,XPO6,YPEL3,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2 chr16 20501893 20501994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 20516311 21134252 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ACSM1,ACSM2B,ACSM3,DCUN1D3,DNAH3,ERI2,LOC81691,LYRM1,THUMPD1 chr1 62052182 62289893 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 INADL,TM2D1 chr16 20529501 20534000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 20532731 20567367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACSM2B chr16 20542060 20610079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSM2B chr16 20542060 20610079 Gain and loss Pancreatic cancer SNP array 17952125 ACSM2B chr16 20542060 20610079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM2B chr1 62054679 62054782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 20556910 20557910 Gain Osteosarcoma References 21215367 ACSM2B chr16 20558879 20943327 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSM1,ACSM2B,ACSM3,DCUN1D3,ERI2,LOC81691,LYRM1,THUMPD1 chr16 2059991 2060067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 20621680 20621769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 20641108 20641178 Gain and loss Pancreatic cancer SNP array 17952125 ACSM1 chr16 20641108 20641178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM1 chr16 20641179 20641234 Gain and loss Pancreatic cancer SNP array 17952125 ACSM1 chr16 20641179 20641234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM1 chr16 20643163 20643263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACSM1 chr16 20652487 20660907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSM1 chr16 20652487 20660907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM1 chr16 20652492 20660907 Gain and loss Pancreatic cancer SNP array 17952125 ACSM1 chr16 2066833 2157921 Loss Stenocardia MACArray Karyo 105K BAC-chips 21860640 MIR1225,NPW,NTHL1,PKD1,SLC9A3R2,TSC2 chr16 2066833 2157921 Loss Vasospasm MACArray Karyo 105K BAC-chips 21860640 MIR1225,NPW,NTHL1,PKD1,SLC9A3R2,TSC2 chr16 20682813 20715979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSM1 chr16 20682813 20715979 Gain and loss Pancreatic cancer SNP array 17952125 ACSM1 chr16 20682813 20715979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM1 chr16 20686043 20686363 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ACSM1 chr16 20699017 20819172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSM1,ACSM3,ERI2,LOC81691,THUMPD1 chr16 20699017 20819172 Gain and loss Pancreatic cancer SNP array 17952125 ACSM1,ACSM3,ERI2,LOC81691,THUMPD1 chr16 20699017 20819172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM1,ACSM3,ERI2,LOC81691,THUMPD1 chr16 20703332 20703432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 20703332 20703434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 20703332 20703438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 20725322 20768485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THUMPD1 chr16 20725322 20768485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THUMPD1 chr16 20725322 20768488 Gain and loss Pancreatic cancer SNP array 17952125 THUMPD1 chr16 20742265 20742357 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 20742265 20742357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 20776918 20819161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSM3,ERI2,LOC81691 chr16 20776918 20819161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSM3,ERI2,LOC81691 chr16 207814 237991 Copy number Autism exome sequencing 22495311 HBA1,HBA2,HBM,HBQ1 chr16 2078712 2125900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTHL1,SLC9A3R2,TSC2 chr16 2078712 2125900 Gain and loss Pancreatic cancer SNP array 17952125 NTHL1,SLC9A3R2,TSC2 chr16 2078712 2125900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTHL1,SLC9A3R2,TSC2 chr16 2080197 2080286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A3R2 chr16 20819927 20843827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC81691 chr16 20819927 20843827 Gain and loss Pancreatic cancer SNP array 17952125 LOC81691 chr16 20819927 20843827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC81691 chr16 20851934 21078263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCUN1D3,DNAH3,LOC81691,LYRM1 chr16 20851934 21078263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCUN1D3,DNAH3,LOC81691,LYRM1 chr16 20851977 21078263 Gain and loss Pancreatic cancer SNP array 17952125 DCUN1D3,DNAH3,LOC81691,LYRM1 chr16 20895013 20895113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCUN1D3 chr1 62090759 62090862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2092299 3583347 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCA17P,ABCA3,AMDHD2,ATP6V0C,C16orf59,C16orf79,C16orf90,CASKIN1,CCDC64B,CCNF,CEMP1,CLDN6,CLDN9,CLUAP1,DNASE1L2,E4F1,ECI1,ERVK13-1,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,HCFC1R1,IL32,KCTD5,KREMEN2,LINC00514,LOC100128770,LOC652276,MEFV,MGC3771,MIR1225,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR940,MLST8,MMP25,MTRNR2L4,NAA60,NTHL1,NTN3,OR1F1,OR1F2P,OR2C1,PAQR4,PDPK1,PGP,PKD1,PKMYT1,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,RAB26,RNPS1,SNORD60,SRRM2,SRRM2-AS1,TBC1D24,TCEB2,THOC6,TIGD7,TNFRSF12A,TRAF7,TSC2,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF597,ZNF75A,ZSCAN10 chr16 20973152 20977094 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DNAH3 chr16 21023467 21023523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH3 chr1 62102476 62102576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2104726 2111251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSC2 chr16 21052 133600 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX11L10,MPG,POLR3K,RHBDF1,SNRNP25 chr16 21058152 21058598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH3 chr16 21077199 21099438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH3 chr16 21077199 21099438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH3 chr1 62107744 62166456 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TM2D1 chr16 21077501 21099431 Gain and loss Pancreatic cancer SNP array 17952125 DNAH3 chr16 21091793 21091924 Loss Normal 244K array 17666407 DNAH3 chr16 21091793 21092910 Loss Normal 244K array 17666407 DNAH3 chr16 21116274 21130369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH3 chr16 21116274 21130369 Gain and loss Pancreatic cancer SNP array 17952125 DNAH3 chr16 21116274 21130369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH3 chr16 21117421 21145459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAH3 chr16 21136056 21146000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAH3 chr16 21152517 21171251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH3,TMEM159 chr16 21152517 21171251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH3,TMEM159 chr16 21152560 21169642 Gain and loss Pancreatic cancer SNP array 17952125 DNAH3 chr16 2115481 2115576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSC2 chr16 2117501 2137000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSC2 chr16 21177343 21221873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM159,ZP2 chr16 21177343 21221873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM159,ZP2 chr16 21177344 21197782 Gain and loss Pancreatic cancer SNP array 17952125 TMEM159 chr1 62118989 66940612 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AK4,ALG6,ANGPTL3,ATG4C,CACHD1,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,INADL,ITGB3BP,JAK1,KANK4,L1TD1,LEPR,LEPROT,LINC00466,MIR101-1,MIR3671,MIR4794,PDE4B,PGM1,RAVER2,ROR1,TM2D1,UBE2U,USP1 chr16 21200000 52600000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCC11,ABCC12,ADCY7,AHSP,ALDOA,ANKRD26P1,ANKS4B,APOBR,AQP8,ARHGAP17,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,BRD7,C16orf52,C16orf53,C16orf54,C16orf58,C16orf78,C16orf82,C16orf87,C16orf92,C16orf93,CACNG3,CBLN1,CCDC101,CD19,CD2BP2,CDIPT,CDR2,CHP2,CLN3,CNEP1R1,COG7,CORO1A,COX6A2,CRYM,CRYM-AS1,CSDAP1,CTF1,CYLD,DCTN5,DCTPP1,DNAJA2,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,ERN2,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FUS,GDPD3,GGA2,GPT2,GSG1L,GTF3C1,HEATR3,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,INO80E,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KDM8,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LOC100130700,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC283914,LOC388242,LOC388276,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC653786,LOC729264,LOC730183,LONP2,MAPK3,MAZ,METTL9,MIR4517,MIR4518,MIR4519,MIR4721,MIR548AA2,MIR548AE2,MIR548D2,MIR762,MVP,MYLK3,MYLPF,N4BP1,NDUFAB1,NETO2,NFATC2IP,NKD1,NOD2,NPIPL3,NSMCE1,NUPR1,ORAI3,ORC6,OTOA,PALB2,PAPD5,PDZD9,PHKB,PHKG2,PLK1,POLR3E,PPP4C,PRKCB,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RNA5SP411,RNF40,RNU6-76,RRN3P1,RRN3P2,RRN3P3,SALL1,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SHCBP1,SIAH1,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SNORA30,SNX20,SNX29P1,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,UBFD1,UQCRC2,USP31,VKORC1,VPS35,VWA3A,XPO6,YPEL3,ZG16,ZKSCAN2,ZNF267,ZNF423,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2 chr16 21211558 21211859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZP2 chr16 2121853 2121950 Gain and loss Pancreatic cancer SNP array 17952125 TSC2 chr16 2121853 2121952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSC2 chr16 2121854 2121950 Gain and loss Pancreatic cancer SNP array 17952125 TSC2 chr16 21219671 21236770 Gain and loss Pancreatic cancer SNP array 17952125 ZP2 chr16 21219671 21237413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZP2 chr16 21219671 21237413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZP2 chr16 21238864 21239068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 21241957 21698983 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKS4B,CRYM,CRYM-AS1,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,SLC7A5P2,SNX29P1 chr16 21241957 21833734 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ANKS4B,CRYM,CRYM-AS1,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,SLC7A5P2,SNX29P1 chr16 21241957 21833734 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKS4B,CRYM,CRYM-AS1,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,SLC7A5P2,SNX29P1 chr16 21241957 21833734 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKS4B,CRYM,CRYM-AS1,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,SLC7A5P2,SNX29P1 chr16 21270906 21319904 Gain Normal Birdsuite, version 1.5.2 22087296 CRYM,CRYM-AS1 chr16 21280089 21501123 Deletion Normal Affymetrix 6.0 microarrays 20967226 CRYM,CRYM-AS1,LOC100190986,LOC100271836,NPIPL3,SNX29P1 chr16 21295469 21939221 Gain and loss Pancreatic cancer SNP array 17952125 CRYM,CRYM-AS1,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,SLC7A5P2,SNX29P1 chr16 21298814 21310913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYM chr16 21319904 21422574 Gain Normal Birdsuite, version 1.5.2 22087296 CRYM-AS1,NPIPL3,SNX29P1 chr16 21320950 21344159 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 CRYM-AS1 chr16 21321106 21365985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYM-AS1,SNX29P1 chr16 21321106 21776240 Gain and loss Pancreatic cancer SNP array 17952125 CRYM-AS1,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,SLC7A5P2,SNX29P1 chr16 21353201 22428450 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf52,CDR2,EEF2K,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,PDZD9,POLR3E,RRN3P1,SLC7A5P2,SNX29P1,UQCRC2,VWA3A chr16 21362285 21462896 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC100190986,LOC100271836,NPIPL3,SNX29P1 chr16 21368420 21377366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29P1 chr16 2137001 2190000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR1225,MIR3180-5,MIR4516,PKD1,TSC2 chr16 21382027 21439266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPIPL3,SNX29P1 chr16 21382027 21439266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPIPL3,SNX29P1 chr16 21382569 21501102 Loss Normal 244K array 17666407 LOC100190986,LOC100271836,NPIPL3,SNX29P1 chr16 21383000 30983000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ALDOA,APOBR,AQP8,ARHGAP17,ASPHD1,ATP2A1,ATXN2L,BCL7C,BOLA2,BOLA2B,C16orf52,C16orf53,C16orf54,C16orf82,C16orf92,C16orf93,CACNG3,CCDC101,CD19,CD2BP2,CDIPT,CDR2,CHP2,CLN3,COG7,CORO1A,CTF1,DCTN5,DCTPP1,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,ERN2,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,GDPD3,GGA2,GSG1L,GTF3C1,HIRIP3,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,INO80E,ITGAL,KCTD13,KDM8,KIAA0556,KIF22,LAT,LCMT1,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100862671,LOC388242,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC730183,MAPK3,MAZ,METTL9,MIR4517,MIR4518,MIR4519,MIR4721,MIR548AA2,MIR548D2,MIR762,MVP,MYLPF,NDUFAB1,NFATC2IP,NPIPL3,NSMCE1,NUPR1,ORAI3,OTOA,PALB2,PDZD9,PHKG2,PLK1,POLR3E,PPP4C,PRKCB,PRR14,PRRT2,QPRT,RABEP2,RBBP6,RNF40,RRN3P1,RRN3P2,RRN3P3,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A11,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SNORA30,SNX29P1,SNX29P2,SPN,SPNS1,SRCAP,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,TNRC6A,TUFM,UBFD1,UQCRC2,USP31,VWA3A,XPO6,YPEL3,ZG16,ZKSCAN2,ZNF48,ZNF629,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 2138646 2144141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR1225,PKD1,TSC2 chr16 2138646 2144141 Gain and loss Pancreatic cancer SNP array 17952125 MIR1225,PKD1,TSC2 chr16 2138646 2144141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR1225,PKD1,TSC2 chr16 21408063 21559206 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100190986,LOC100271836,NPIPL3,SLC7A5P2 chr16 21408063 21698983 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,SLC7A5P2 chr16 21408063 21833734 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,SLC7A5P2 chr16 21408063 21833734 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,SLC7A5P2 chr16 21422574 21422575 Gain Normal Birdsuite, version 1.5.2 22087296 NPIPL3 chr16 21422575 21440723 Gain Normal Birdsuite, version 1.5.2 22087296 NPIPL3 chr16 21422575 21498841 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100190986,LOC100271836,NPIPL3 chr16 21424476 21439266 Gain and loss Pancreatic cancer SNP array 17952125 NPIPL3 chr1 6214377 6214452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHD5 chr16 21439479 21495747 Substitutions and indels small cell lung cancer array-CGH 20016488 LOC100190986,LOC100271836 chr16 21440723 21476703 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100190986,LOC100271836 chr16 21441805 21501123 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100190986,LOC100271836 chr16 21441805 29265851 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 APOBR,AQP8,ARHGAP17,ATP2A1,ATXN2L,C16orf52,C16orf82,CACNG3,CCDC101,CD19,CDR2,CHP2,CLN3,COG7,DCTN5,EARS2,EEF2K,EIF3C,EIF3CL,ERN2,FLJ21408,GGA2,GSG1L,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,KDM8,KIAA0556,LAT,LCMT1,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC554206,LOC653786,METTL9,MIR4517,MIR4721,MIR548AA2,MIR548D2,NDUFAB1,NFATC2IP,NSMCE1,NUPR1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RABEP2,RBBP6,RRN3P1,RRN3P2,RRN3P3,SBK1,SCNN1B,SCNN1G,SH2B1,SLC5A11,SLC7A5P2,SMG1P1,SPNS1,SULT1A1,SULT1A2,TNRC6A,TUFM,UBFD1,UQCRC2,USP31,VWA3A,XPO6,ZKSCAN2 chr16 21442161 21480215 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100190986,LOC100271836 chr16 21444508 21493241 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100190986,LOC100271836 chr16 21444508 21493241 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 LOC100190986,LOC100271836 chr16 2145025 2145107 Gain and loss Pancreatic cancer SNP array 17952125 PKD1 chr16 2145025 2145107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKD1 chr16 21451791 21469202 Gain and loss Pancreatic cancer SNP array 17952125 LOC100271836 chr16 21451791 21469333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100271836 chr16 2145799 2168131 Copy number Lung cancer - 20668451 PKD1 chr16 2145799 2168131 Gain or loss Breast cancer - 20668451 PKD1 chr16 2145799 2168131 Gain or loss Cancer - 20668451 PKD1 chr16 2145799 2168131 Gain or loss Lung cancer - 20668451 PKD1 chr16 2145799 2168131 Gain or loss Ovarian cancer - 20668451 PKD1 chr16 2145799 2168131 Gain or loss Pancreas cancer - 20668451 PKD1 chr16 2145799 2168131 Gain or loss Prostate cancer - 20668451 PKD1 chr16 2145800 2168130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKD1 chr16 2145800 2168130 Gain and loss Pancreatic cancer SNP array 17952125 PKD1 chr16 2145800 2168130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKD1 chr16 21460751 21462500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100271836 chr16 21462902 21490364 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC100271836 chr16 21476703 21476934 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21476934 21494225 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21477807 21501091 Duplication Normal TaqMan assays 20972442 LOC100271836 chr16 21482719 21647775 Loss Autism - 20841430 LOC100271836,METTL9,SLC7A5P2 chr16 21482719 29234430 Duplication Autism Illumina HumanHap561 BeadChip 20858243 APOBR,AQP8,ARHGAP17,ATP2A1,ATXN2L,C16orf52,C16orf82,CACNG3,CCDC101,CD19,CDR2,CHP2,CLN3,COG7,DCTN5,EARS2,EEF2K,EIF3C,EIF3CL,ERN2,FLJ21408,GGA2,GSG1L,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,KDM8,KIAA0556,LAT,LCMT1,LOC100132247,LOC100271836,LOC100289092,LOC100506655,LOC554206,LOC653786,METTL9,MIR4517,MIR4721,MIR548AA2,MIR548D2,NDUFAB1,NFATC2IP,NSMCE1,NUPR1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RABEP2,RBBP6,RRN3P1,RRN3P2,RRN3P3,SBK1,SCNN1B,SCNN1G,SH2B1,SLC5A11,SLC7A5P2,SMG1P1,SPNS1,SULT1A1,SULT1A2,TNRC6A,TUFM,UBFD1,UQCRC2,USP31,VWA3A,XPO6,ZKSCAN2 chr16 21493293 21650621 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC100271836,METTL9,SLC7A5P2 chr16 21494225 21496289 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21496289 21498841 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21498841 21500956 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21500956 21501135 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21501135 21507000 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21502671 22513779 Substitutions and indels small cell lung cancer array-CGH 20016488 C16orf52,CDR2,EEF2K,IGSF6,LOC100271836,METTL9,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,SLC7A5P2,SMG1P1,UQCRC2,VWA3A chr16 21506424 21506687 Gain and loss Pancreatic cancer SNP array 17952125 LOC100271836 chr16 21506424 21506687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100271836 chr16 21507000 21510131 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21509120 21641889 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 LOC100271836,METTL9,SLC7A5P2 chr16 21509120 21698983 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 IGSF6,LOC100271836,METTL9,OTOA,SLC7A5P2 chr16 21509120 21698983 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 IGSF6,LOC100271836,METTL9,OTOA,SLC7A5P2 chr16 21509128 21698983 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IGSF6,LOC100271836,METTL9,OTOA,SLC7A5P2 chr16 21509128 21833734 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IGSF6,LOC100271836,METTL9,OTOA,RRN3P1,SLC7A5P2 chr16 21510131 21513685 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271836 chr16 21518357 21576292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC7A5P2 chr16 21518357 21576292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A5P2 chr16 21518413 21576292 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A5P2 chr16 21521457 28949693 Copy number Normal - 21701786 APOBR,AQP8,ARHGAP17,ATP2A1,ATXN2L,C16orf52,C16orf82,CACNG3,CCDC101,CD19,CDR2,CHP2,CLN3,COG7,DCTN5,EARS2,EEF2K,EIF3C,EIF3CL,ERN2,FLJ21408,GGA2,GSG1L,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100289092,LOC100506655,LOC554206,LOC653786,METTL9,MIR4721,MIR548AA2,MIR548D2,NDUFAB1,NSMCE1,NUPR1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RABEP2,RBBP6,RRN3P1,RRN3P3,SBK1,SCNN1B,SCNN1G,SH2B1,SLC5A11,SLC7A5P2,SMG1P1,SULT1A1,SULT1A2,TNRC6A,TUFM,UBFD1,UQCRC2,USP31,VWA3A,XPO6,ZKSCAN2 chr16 21526249 21650633 Gain Normal Birdsuite, version 1.5.2 22087296 METTL9,SLC7A5P2 chr1 6215521 6230298 Deletion T-cell lymphomas Array-CGH 22341440 CHD5 chr1 6215521 6230298 Gain and loss Pancreatic cancer SNP array 17952125 CHD5 chr16 21559426 21571430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 21559426 21571430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 21560106 21571473 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 21560108 21571464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 21560876 21560982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 21560880 21560982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 21561116 21561222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 21561116 21561222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 21573398 28501098 Loss Developmental delay affymetrix genechip 500K/SNP 6.69 array 21147756 AQP8,ARHGAP17,C16orf52,C16orf82,CACNG3,CDR2,CHP2,CLN3,COG7,DCTN5,EARS2,EEF2K,EIF3C,EIF3CL,ERN2,FLJ21408,GGA2,GSG1L,GTF3C1,HS3ST2,HS3ST4,IGSF6,IL21R,IL21R-AS1,IL4R,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100506655,LOC554206,LOC653786,METTL9,MIR548AA2,MIR548D2,NDUFAB1,NSMCE1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RRN3P1,RRN3P3,SBK1,SCNN1B,SCNN1G,SLC5A11,SMG1P1,TNRC6A,UBFD1,UQCRC2,USP31,VWA3A,XPO6,ZKSCAN2 chr16 21597336 21679551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGSF6,METTL9 chr16 21597336 21679551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF6,METTL9 chr16 21597337 21679550 Gain and loss Pancreatic cancer SNP array 17952125 IGSF6,METTL9 chr16 21623784 21679550 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 IGSF6,METTL9 chr1 62163175 62163523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TM2D1 chr16 21639554 21639654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METTL9 chr16 21641198 21716960 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IGSF6,METTL9,OTOA chr16 21645311 22520339 Duplication Autism Array CGH 22102821 C16orf52,CDR2,EEF2K,IGSF6,METTL9,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,SMG1P1,UQCRC2,VWA3A chr16 2166696 2166975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKD1 chr16 2167185 2186466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3180-5,MIR4516,PKD1 chr16 2167185 2186466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3180-5,MIR4516,PKD1 chr16 2167185 2258115 Gain and loss Pancreatic cancer SNP array 17952125 CASKIN1,MIR3180-5,MIR4516,MLST8,PKD1,RAB26,SNORD60,TRAF7 chr16 21675903 22357384 Gain Autism Exome sequencing and CGH 22495309 C16orf52,CDR2,EEF2K,OTOA,PDZD9,POLR3E,RRN3P1,UQCRC2,VWA3A chr16 21682239 22502538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C16orf52,CDR2,EEF2K,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,SMG1P1,UQCRC2,VWA3A chr16 21690969 22544204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C16orf52,CDR2,EEF2K,LOC100132247,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,SMG1P1,UQCRC2,VWA3A chr16 21694230 21905052 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OTOA,RRN3P1 chr16 21700000 27600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AQP8,ARHGAP17,C16orf52,C16orf82,CACNG3,CDR2,CHP2,COG7,DCTN5,EARS2,EEF2K,ERN2,FLJ21408,GGA2,GTF3C1,HS3ST2,HS3ST4,IL21R,IL21R-AS1,IL4R,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100506655,LOC554206,LOC653786,MIR548AA2,MIR548D2,NDUFAB1,NSMCE1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SMG1P1,TNRC6A,UBFD1,UQCRC2,USP31,VWA3A,ZKSCAN2 chr16 21700000 27600000 Deletion or duplication Drug metabolism References 21956041 AQP8,ARHGAP17,C16orf52,C16orf82,CACNG3,CDR2,CHP2,COG7,DCTN5,EARS2,EEF2K,ERN2,FLJ21408,GGA2,GTF3C1,HS3ST2,HS3ST4,IL21R,IL21R-AS1,IL4R,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100506655,LOC554206,LOC653786,MIR548AA2,MIR548D2,NDUFAB1,NSMCE1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SMG1P1,TNRC6A,UBFD1,UQCRC2,USP31,VWA3A,ZKSCAN2 chr16 21700000 27600000 Deletion Tracheal agenesis FISH, real-time quantitative PCR 20877625 AQP8,ARHGAP17,C16orf52,C16orf82,CACNG3,CDR2,CHP2,COG7,DCTN5,EARS2,EEF2K,ERN2,FLJ21408,GGA2,GTF3C1,HS3ST2,HS3ST4,IL21R,IL21R-AS1,IL4R,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100506655,LOC554206,LOC653786,MIR548AA2,MIR548D2,NDUFAB1,NSMCE1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SMG1P1,TNRC6A,UBFD1,UQCRC2,USP31,VWA3A,ZKSCAN2 chr16 21700000 27600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AQP8,ARHGAP17,C16orf52,C16orf82,CACNG3,CDR2,CHP2,COG7,DCTN5,EARS2,EEF2K,ERN2,FLJ21408,GGA2,GTF3C1,HS3ST2,HS3ST4,IL21R,IL21R-AS1,IL4R,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100506655,LOC554206,LOC653786,MIR548AA2,MIR548D2,NDUFAB1,NSMCE1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SMG1P1,TNRC6A,UBFD1,UQCRC2,USP31,VWA3A,ZKSCAN2 chr16 21700000 27600000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 AQP8,ARHGAP17,C16orf52,C16orf82,CACNG3,CDR2,CHP2,COG7,DCTN5,EARS2,EEF2K,ERN2,FLJ21408,GGA2,GTF3C1,HS3ST2,HS3ST4,IL21R,IL21R-AS1,IL4R,KDM8,KIAA0556,LCMT1,LOC100132247,LOC100506655,LOC554206,LOC653786,MIR548AA2,MIR548D2,NDUFAB1,NSMCE1,OTOA,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RRN3P1,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SMG1P1,TNRC6A,UBFD1,UQCRC2,USP31,VWA3A,ZKSCAN2 chr16 21704885 21705147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OTOA chr16 21715904 21719659 Gain and loss Pancreatic cancer SNP array 17952125 OTOA chr16 21715904 21727638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTOA chr16 21716331 22464053 Microdeletion Neurocognitive array CGH 20729854 C16orf52,CDR2,EEF2K,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,SMG1P1,UQCRC2,VWA3A chr16 21716331 22464053 Microdeletion Neurocognitive array-CGH 20729854 C16orf52,CDR2,EEF2K,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,SMG1P1,UQCRC2,VWA3A chr16 21724949 22349509 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C16orf52,EEF2K,OTOA,PDZD9,POLR3E,RRN3P1,UQCRC2,VWA3A chr16 21731160 21737573 Gain and loss Pancreatic cancer SNP array 17952125 OTOA chr16 21753540 21776240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTOA chr16 21788416 22351124 Loss Autism qPCR 20531469 C16orf52,EEF2K,PDZD9,POLR3E,RRN3P1,UQCRC2,VWA3A chr16 2179801 2186018 Gain and loss Pancreatic cancer SNP array 17952125 MIR3180-5,MIR4516,PKD1 chr16 21800000 22300000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 C16orf52,EEF2K,PDZD9,RRN3P1,UQCRC2,VWA3A chr16 21800673 21809609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRN3P1 chr16 21814292 21822285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRN3P1 chr16 21822947 21837978 Gain and loss Pancreatic cancer SNP array 17952125 RRN3P1 chr16 21822947 21837978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRN3P1 chr16 21854731 22331199 Loss Autism qPCR 20531469 C16orf52,EEF2K,PDZD9,POLR3E,UQCRC2,VWA3A chr16 21854731 22343312 Loss Autism qPCR, Agilent1M 20531469 C16orf52,EEF2K,PDZD9,POLR3E,UQCRC2,VWA3A chr16 21856623 22331199 Gain Normal - 20841430 C16orf52,EEF2K,PDZD9,POLR3E,UQCRC2,VWA3A chr16 21858880 21858939 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr16 21871482 21902174 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 21872110 21902169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 21872110 21902169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2189095 2222652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB26,SNORD60,TRAF7 chr16 21900000 26300000 Deletion abnormal development HR-CGH, Array-CGH 18461090 AQP8,ARHGAP17,C16orf52,CACNG3,CDR2,CHP2,COG7,DCTN5,EARS2,EEF2K,ERN2,GGA2,HS3ST2,HS3ST4,LCMT1,LOC100132247,LOC100506655,LOC554206,LOC653786,MIR548AA2,MIR548D2,NDUFAB1,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SMG1P1,TNRC6A,UBFD1,UQCRC2,USP31,VWA3A,ZKSCAN2 chr16 2190001 2196000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 21902693 21919934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 21902693 21919934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 21903089 21914084 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 21920000 22320000 Deletion Schizophrenia BAC array CGH 17989066 C16orf52,EEF2K,PDZD9,POLR3E,UQCRC2,VWA3A chr16 21925400 21925459 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 NOT_FOUND chr16 21927031 22006355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDZD9,UQCRC2 chr16 21927031 22006355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDZD9,UQCRC2 chr16 21927229 21994307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UQCRC2 chr16 2195451 2199416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB26 chr16 2195451 2199416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB26 chr16 2195496 2199414 Gain and loss Pancreatic cancer SNP array 17952125 RAB26 chr16 2196001 2202500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAB26 chr16 21983224 22002523 Gain and loss Pancreatic cancer SNP array 17952125 PDZD9,UQCRC2 chr16 21984018 26004132 Deletion Glioblastoma multiforme 244K oligo array 21138945 AQP8,ARHGAP17,C16orf52,CACNG3,CDR2,CHP2,COG7,DCTN5,EARS2,EEF2K,ERN2,GGA2,HS3ST2,HS3ST4,LCMT1,LOC100132247,LOC100506655,LOC554206,LOC653786,MIR548AA2,MIR548D2,NDUFAB1,PALB2,PDZD9,PLK1,POLR3E,PRKCB,RBBP6,RRN3P3,SCNN1B,SCNN1G,SLC5A11,SMG1P1,TNRC6A,UBFD1,UQCRC2,USP31,VWA3A,ZKSCAN2 chr16 21986695 21986765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UQCRC2 chr16 2199255 2201012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB26 chr16 2199255 2201012 Gain and loss Pancreatic cancer SNP array 17952125 RAB26 chr16 2199255 2201012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB26 chr16 21994522 21999517 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PDZD9,UQCRC2 chr16 21994522 21999517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDZD9,UQCRC2 chr16 22011363 22075675 Gain and loss Pancreatic cancer SNP array 17952125 C16orf52,PDZD9 chr16 22011363 22075775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf52,PDZD9 chr16 22011363 22075775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf52,PDZD9 chr16 2201603 2204823 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 RAB26 chr16 2201604 2204823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB26 chr16 2201604 2204823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB26 chr16 2202501 2218000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAB26,SNORD60,TRAF7 chr16 22035501 22255000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf52,EEF2K,VWA3A chr16 2203687 2204749 Gain and loss Pancreatic cancer SNP array 17952125 RAB26 chr16 22081071 22081121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf52 chr16 22085092 22109167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf52,VWA3A chr16 22085092 22109167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf52,VWA3A chr16 22085098 22109065 Gain and loss Pancreatic cancer SNP array 17952125 C16orf52,VWA3A chr16 221134 221472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 22125092 22207567 Gain or loss Breast cancer - 20668451 VWA3A chr16 22125092 22207567 Gain or loss Cancer - 20668451 VWA3A chr16 22125092 22207567 Gain or loss Lung cancer - 20668451 VWA3A chr16 22125092 22207567 Gain or loss Ovarian cancer - 20668451 VWA3A chr16 22125092 22207567 Gain or loss Pancreas cancer - 20668451 VWA3A chr16 22125092 22207567 Gain or loss Prostate cancer - 20668451 VWA3A chr16 22125093 22207567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWA3A chr16 22125093 22207567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA3A chr16 22125257 22205452 Gain and loss Pancreatic cancer SNP array 17952125 VWA3A chr16 2213568 2225744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAF7 chr16 2213568 2225744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAF7 chr16 2213595 2225743 Gain and loss Pancreatic cancer SNP array 17952125 TRAF7 chr16 2218001 2229500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CASKIN1,TRAF7 chr16 22201625 22679810 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CDR2,EEF2K,LOC100132247,LOC653786,POLR3E,RRN3P3,SMG1P1 chr16 22201625 22679810 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDR2,EEF2K,LOC100132247,LOC653786,POLR3E,RRN3P3,SMG1P1 chr16 22216231 22253265 Gain and loss Pancreatic cancer SNP array 17952125 EEF2K chr16 22216242 22252840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF2K chr16 22221235 32532138 Gain Bladder cancer array-CGH 21909424 AHSP,ALDOA,APOBR,AQP8,ARHGAP17,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf82,C16orf92,C16orf93,CACNG3,CCDC101,CD19,CD2BP2,CDIPT,CDR2,CHP2,CLN3,COG7,CORO1A,COX6A2,CSDAP1,CTF1,DCTN5,DCTPP1,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,ERN2,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FUS,GDPD3,GGA2,GSG1L,GTF3C1,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IL21R,IL21R-AS1,IL27,IL4R,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KDM8,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LOC100132247,LOC100289092,LOC100506655,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR548AA2,MIR548D2,MIR762,MVP,MYLPF,NDUFAB1,NFATC2IP,NSMCE1,NUPR1,ORAI3,PALB2,PHKG2,PLK1,POLR3E,PPP4C,PRKCB,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RNF40,RRN3P2,RRN3P3,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A11,SLC5A2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1P1,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TNRC6A,TRIM72,TUFM,UBFD1,USP31,VKORC1,XPO6,YPEL3,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 2226468 2228713 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CASKIN1,TRAF7 chr16 2226469 2228710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASKIN1,TRAF7 chr16 2226469 2228710 Gain and loss Pancreatic cancer SNP array 17952125 CASKIN1,TRAF7 chr16 2226469 2228710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASKIN1,TRAF7 chr16 22264758 22293439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEF2K chr16 22264758 22293439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF2K chr16 22264766 22293421 Gain and loss Pancreatic cancer SNP array 17952125 EEF2K chr16 2229501 2237000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CASKIN1 chr16 2229898 2241604 Copy number Breast cancer - 21806811 CASKIN1 chr16 2229898 2241604 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CASKIN1 chr16 2229901 2241576 Gain and loss Pancreatic cancer SNP array 17952125 CASKIN1 chr16 2229901 2241604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASKIN1 chr16 2229901 2241604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASKIN1 chr1 6223001 6225500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHD5 chr16 22315838 22315929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLR3E chr16 22338076 22679810 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDR2,LOC100132247,LOC653786,POLR3E,RRN3P3,SMG1P1 chr16 22338076 22679810 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDR2,LOC100132247,LOC653786,POLR3E,RRN3P3,SMG1P1 chr16 22349475 22465432 Gain Normal Birdsuite, version 1.5.2 22087296 CDR2,RRN3P3,SMG1P1 chr16 22351008 22358429 Duplication Schizophrenia NimbleGen HD2 platform 21346763 CDR2 chr16 22355698 22633240 Loss Normal 244K array 17666407 CDR2,LOC100132247,LOC653786,RRN3P3,SMG1P1 chr16 22368816 22679810 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDR2,LOC100132247,LOC653786,RRN3P3,SMG1P1 chr16 22368816 22679810 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDR2,LOC100132247,LOC653786,RRN3P3,SMG1P1 chr16 2237001 2257500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CASKIN1,MLST8 chr16 22370389 22385434 Gain and loss Pancreatic cancer SNP array 17952125 CDR2 chr16 22370389 22385434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDR2 chr16 22385028 22409662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDR2 chr16 22387991 22393998 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 22428451 22618200 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100132247,LOC653786,RRN3P3,SMG1P1 chr16 2243125 2258115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASKIN1,MLST8 chr16 2243125 2258115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASKIN1,MLST8 chr16 2243188 2252344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASKIN1 chr16 22432384 22455362 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 RRN3P3,SMG1P1 chr16 22432584 22455207 Gain and loss Pancreatic cancer SNP array 17952125 RRN3P3,SMG1P1 chr16 22432584 22455333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRN3P3,SMG1P1 chr16 2243739 2252344 Gain and loss Pancreatic cancer SNP array 17952125 CASKIN1 chr16 224546 227295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HBA1 chr16 22459409 22619691 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100132247,LOC653786,SMG1P1 chr16 22465433 22550746 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100132247,SMG1P1 chr16 22465433 22611363 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC100132247,LOC653786,SMG1P1 chr16 22465433 22612022 Deletion Cancer Affymetrix Genome-Wide Human SNP Array 6.0 21249187 LOC100132247,LOC653786,SMG1P1 chr16 22465433 22612022 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100132247,LOC653786,SMG1P1 chr16 22465800 22612021 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC100132247,LOC653786,SMG1P1 chr16 22465800 22612021 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132247,LOC653786,SMG1P1 chr16 22465800 22618231 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC100132247,LOC653786,SMG1P1 chr16 22465800 22620480 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC100132247,LOC653786,SMG1P1 chr16 224745 258971 Gain and loss Pancreatic cancer SNP array 17952125 HBA1,HBQ1,LUC7L chr16 224802 258971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HBA1,HBQ1,LUC7L chr16 224802 258971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HBA1,HBQ1,LUC7L chr16 224834 258971 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 HBA1,HBQ1,LUC7L chr16 22491640 22557063 Copy number Normal Quantitative Real-Time PCR 17666543 LOC100132247,LOC653786,SMG1P1 chr16 22494954 22606359 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC100132247,LOC653786,SMG1P1 chr16 22494954 22612021 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132247,LOC653786,SMG1P1 chr1 62250141 62250434 Gain and loss Pancreatic cancer SNP array 17952125 INADL chr16 22503592 22679810 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100132247,LOC653786 chr16 22503592 22679810 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100132247,LOC653786 chr16 22530626 22542368 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100132247 chr16 22533269 22620204 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100132247,LOC653786 chr16 22533269 22620204 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 LOC100132247,LOC653786 chr16 22535883 22613739 Substitutions and indels small cell lung cancer array-CGH 20016488 LOC100132247,LOC653786 chr16 22545598 22577929 Duplication Normal TaqMan assays 20972442 LOC100132247,LOC653786 chr1 6225501 6268500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHD5,RNF207,RPL22 chr16 22550746 22612021 Gain Normal Birdsuite, version 1.5.2 22087296 LOC653786 chr16 22553823 22690791 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 LOC653786 chr16 2257501 2291000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf79,DNASE1L2,E4F1,ECI1,MLST8,PGP chr16 2257789 2257882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLST8 chr16 22578173 22625780 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 LOC653786 chr16 22587183 22621003 Gain Normal TaqMan assays 20972442 LOC653786 chr16 22612021 22612022 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 22612022 22618243 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 2261749 2261842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGP chr16 22618201 24439800 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNG3,CHP2,COG7,DCTN5,EARS2,ERN2,GGA2,HS3ST2,MIR548AA2,MIR548D2,NDUFAB1,PALB2,PLK1,PRKCB,SCNN1B,SCNN1G,UBFD1,USP31 chr16 22618243 22620480 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 22619259 34143147 Substitutions and indels small cell lung cancer array-CGH 20016488 AHSP,ALDOA,APOBR,AQP8,ARHGAP17,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf82,C16orf92,C16orf93,CACNG3,CCDC101,CD19,CD2BP2,CDIPT,CHP2,CLN3,COG7,CORO1A,COX6A2,CSDAP1,CTF1,DCTN5,DCTPP1,DOC2A,EARS2,EIF3C,EIF3CL,ERN2,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FUS,GDPD3,GGA2,GSG1L,GTF3C1,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IL21R,IL21R-AS1,IL27,IL4R,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KDM8,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LOC100289092,LOC100506655,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR548AA2,MIR548D2,MIR762,MVP,MYLPF,NDUFAB1,NFATC2IP,NSMCE1,NUPR1,ORAI3,PALB2,PHKG2,PLK1,PPP4C,PRKCB,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RNF40,RNU6-76,RRN3P2,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBFD1,USP31,VKORC1,XPO6,YPEL3,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 22626887 22626939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 22640088 22688093 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr16 2265879 2330748 Gain or loss Breast cancer - 20668451 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 2265879 2330748 Gain or loss Cancer - 20668451 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 2265879 2330748 Gain or loss Lung cancer - 20668451 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 2265879 2330748 Gain or loss Ovarian cancer - 20668451 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 2265879 2330748 Gain or loss Pancreas cancer - 20668451 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 2265879 2330748 Gain or loss Prostate cancer - 20668451 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 2265880 2330748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 2265880 2330748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 2265884 2319857 Gain and loss Pancreatic cancer SNP array 17952125 DNASE1L2,E4F1,ECI1,RNPS1 chr1 6226849 6228225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr16 22699121 22699121 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 22718075 22718170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 22732991 22835572 Gain and loss Pancreatic cancer SNP array 17952125 HS3ST2,MIR548AA2,MIR548D2 chr16 22732999 22835572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HS3ST2,MIR548AA2,MIR548D2 chr16 22732999 22835572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS3ST2,MIR548AA2,MIR548D2 chr16 2275303 2811504 LOH Normal High-resolution SNP genotyping 21211785 ABCA17P,ABCA3,AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,DNASE1L2,E4F1,ECI1,ERVK13-1,FLJ42627,KCTD5,LOC652276,MIR3178,MIR3677,MIR4717,MIR940,NTN3,PDPK1,PRSS27,RNPS1,SRRM2,SRRM2-AS1,TBC1D24 chr16 22763803 22764299 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MIR548AA2,MIR548D2 chr1 62277102 62277371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INADL chr1 62277102 62277371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr16 22816473 22816749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 2287944 2288183 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNASE1L2 chr16 2291001 2412000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCA17P,ABCA3,ECI1,MIR3677,MIR4717,MIR940,RNPS1 chr16 22915925 22916021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST2 chr16 22952751 22953475 Loss Normal 244K array 17666407 NOT_FOUND chr16 22953201 22959100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 22955277 22957026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 22955370 22957061 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 22955501 22957000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 22955581 22956766 Loss Normal 244K array 17666407 NOT_FOUND chr16 22980228 23068092 Copy number Lung cancer - 20668451 NOT_FOUND chr16 22980228 23068092 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 22980228 23068092 Gain or loss Cancer - 20668451 NOT_FOUND chr16 22980228 23068092 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 22980228 23068092 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 22980228 23068092 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 22980228 23068092 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 22986804 23068092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 22986804 23068092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 22986868 23068092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 22994243 22994425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 22994453 22994553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6229993 6243622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr1 6229993 6243622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD5 chr1 62307205 62307285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INADL chr16 23101541 23135701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP31 chr16 23101541 23135701 Gain and loss Pancreatic cancer SNP array 17952125 USP31 chr16 23101541 23135701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP31 chr1 62310708 62310999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr1 62310708 62311001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr16 23136454 23167121 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USP31 chr16 23154773 23154873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP31 chr1 6232134 6233766 Gain and loss Pancreatic cancer SNP array 17952125 CHD5 chr16 23221092 23300121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCNN1G chr16 23221092 23300121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCNN1G chr16 23221133 23300120 Gain and loss Pancreatic cancer SNP array 17952125 SCNN1G chr16 2322248 2322734 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 23223992 23224091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCNN1G chr16 23272501 23309000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 2330169 2336394 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ABCA3 chr16 23307465 23371993 Gain and loss Pancreatic cancer SNP array 17952125 SCNN1B chr16 23307465 23372000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCNN1B chr16 23307465 23372000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCNN1B chr16 23318127 23318217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCNN1B chr16 23335473 23335522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCNN1B chr16 23351175 23351279 Gain and loss Pancreatic cancer SNP array 17952125 SCNN1B chr16 23351175 23351279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCNN1B chr16 2335485 2335662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABCA3 chr16 23360620 23360743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCNN1B chr16 23360654 23360743 Gain and loss Pancreatic cancer SNP array 17952125 SCNN1B chr16 23369108 23401526 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COG7,SCNN1B chr16 23381524 23381733 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCNN1B chr16 23383145 23429309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG7,SCNN1B chr16 23383145 23429309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG7,SCNN1B chr16 23383146 23429316 Gain and loss Pancreatic cancer SNP array 17952125 COG7,SCNN1B chr16 23414441 23452979 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COG7 chr16 23417683 23436489 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COG7 chr1 62342830 62342930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INADL chr16 23429693 23429752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COG7 chr16 23436037 23436349 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COG7 chr16 23440836 23476197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG7,GGA2 chr16 23440836 23476197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG7,GGA2 chr16 23441551 23476154 Gain and loss Pancreatic cancer SNP array 17952125 COG7,GGA2 chr16 23475893 23493209 Gain and loss Pancreatic cancer SNP array 17952125 GGA2 chr16 23475893 23493211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GGA2 chr16 23475893 23493211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GGA2 chr1 62348689 62348789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INADL chr16 23496237 23496504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GGA2 chr16 23499838 23515140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GGA2 chr16 23499838 23515140 Gain and loss Pancreatic cancer SNP array 17952125 GGA2 chr16 23499838 23515140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GGA2 chr16 23500081 23500181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GGA2 chr16 23505264 23505364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GGA2 chr16 23521983 23560179 Deletion Breast cancer MLPA 18501021 EARS2 chr16 23521983 23560179 Deletion Ovarian cancer MLPA 18501021 EARS2 chr16 23521983 23560179 Gain or loss Breast cancer - 20668451 EARS2 chr16 23521983 23560179 Gain or loss Cancer - 20668451 EARS2 chr16 23521983 23560179 Gain or loss Lung cancer - 20668451 EARS2 chr16 23521983 23560179 Gain or loss Ovarian cancer - 20668451 EARS2 chr16 23521983 23560179 Gain or loss Pancreas cancer - 20668451 EARS2 chr16 23521983 23560179 Gain or loss Prostate cancer - 20668451 EARS2 chr16 23521984 23560128 Gain and loss Pancreatic cancer SNP array 17952125 EARS2 chr16 23521984 23560179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EARS2 chr16 23521984 23560179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EARS2 chr16 23522031 23530167 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 23544903 23545003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EARS2 chr16 23560301 23565700 Deletion Glioma mate-paired sequence 20126413 EARS2 chr16 23560308 23588683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EARS2,UBFD1 chr16 23560308 23588683 Gain and loss Pancreatic cancer SNP array 17952125 EARS2,UBFD1 chr16 23560308 23588683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EARS2,UBFD1 chr16 23562159 23569628 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 EARS2,UBFD1 chr16 23597001 23633000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NDUFAB1,PALB2 chr16 23597701 23609189 Gain or loss Breast cancer - 20668451 NDUFAB1 chr16 23597701 23609189 Gain or loss Cancer - 20668451 NDUFAB1 chr16 23597701 23609189 Gain or loss Lung cancer - 20668451 NDUFAB1 chr16 23597701 23609189 Gain or loss Ovarian cancer - 20668451 NDUFAB1 chr16 23597701 23609189 Gain or loss Pancreas cancer - 20668451 NDUFAB1 chr16 23597701 23609189 Gain or loss Prostate cancer - 20668451 NDUFAB1 chr16 23597702 23609189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDUFAB1 chr16 23597702 23609189 Gain and loss Pancreatic cancer SNP array 17952125 NDUFAB1 chr16 23597702 23609189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFAB1 chr16 23609131 23632322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PALB2 chr16 23609131 23632322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PALB2 chr16 23609198 23632322 Gain and loss Pancreatic cancer SNP array 17952125 PALB2 chr16 23610619 23610714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 23645856 24292120 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CACNG3,CHP2,DCTN5,ERN2,PALB2,PLK1,PRKCB chr16 23647357 23647359 Deletion Breast cancer - 20616022 PALB2 chr16 23668555 23669665 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DCTN5 chr16 23673449 23677757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCTN5 chr16 23673449 23677757 Gain and loss Pancreatic cancer SNP array 17952125 DCTN5 chr16 23673449 23677757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTN5 chr16 23685262 23685362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6236858 6239833 Deletion T-cell lymphomas Array-CGH 22341440 CHD5 chr16 23716969 23717027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERN2 chr16 23717456 23717545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERN2 chr1 62372557 62389239 Gain and loss Pancreatic cancer SNP array 17952125 INADL chr16 23754800 24139431 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CHP2,PRKCB chr16 23754822 24139063 Copy number Lung cancer - 20668451 CHP2,PRKCB chr16 23754822 24139063 Gain or loss Breast cancer - 20668451 CHP2,PRKCB chr16 23754822 24139063 Gain or loss Cancer - 20668451 CHP2,PRKCB chr16 23754822 24139063 Gain or loss Lung cancer - 20668451 CHP2,PRKCB chr16 23754822 24139063 Gain or loss Ovarian cancer - 20668451 CHP2,PRKCB chr16 23754822 24139063 Gain or loss Pancreas cancer - 20668451 CHP2,PRKCB chr16 23754822 24139063 Gain or loss Prostate cancer - 20668451 CHP2,PRKCB chr16 23754822 24139063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHP2,PRKCB chr16 23754823 24139063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHP2,PRKCB chr16 23754823 24139063 Gain and loss Pancreatic cancer SNP array 17952125 CHP2,PRKCB chr16 23754823 24139063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHP2,PRKCB chr16 23818388 23818693 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 23825583 23825674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 23865376 23865451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCB chr1 6238692 6239656 Gain and loss Pancreatic cancer SNP array 17952125 CHD5 chr1 62389250 62389357 Gain and loss Pancreatic cancer SNP array 17952125 INADL chr1 62389250 62389358 Gain and loss Pancreatic cancer SNP array 17952125 INADL chr16 23899528 23899594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCB chr16 23923602 24472760 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CACNG3,PRKCB chr16 23923602 24472760 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CACNG3,PRKCB chr16 23931955 23932055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCB chr16 23934773 23934873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCB chr16 239411 12100062 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABAT,ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATF7IP2,ATP6V0C,AXIN1,BAIAP3,BCAR4,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DECR2,DEXI,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,EMP2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,GSPT1,HAGH,HAGHL,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR548X,MIR5587,MIR662,MIR940,MLST8,MMP25,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPW,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PMM2,PPL,PRM1,PRM2,PRM3,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDL1,RHOT2,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,RSL1D1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNX29,SOCS1,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,TXNDC11,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZC3H7A,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 23968072 23968143 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCB chr1 62400314 62400402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INADL chr16 24034427 24034491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCB chr16 24071159 24071256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCB chr16 24078313 24078408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCB chr16 2411385 2411434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA17P chr16 2412001 2444000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCA17P chr1 62414842 62497104 Gain and loss Pancreatic cancer SNP array 17952125 INADL chr16 24174376 24281238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNG3,PRKCB chr16 24174382 24281238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNG3,PRKCB chr16 24174382 24281238 Gain and loss Pancreatic cancer SNP array 17952125 CACNG3,PRKCB chr16 24174382 24281238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG3,PRKCB chr16 2419395 2448860 Gain or loss Breast cancer - 20668451 ABCA17P chr16 2419395 2448860 Gain or loss Cancer - 20668451 ABCA17P chr16 2419395 2448860 Gain or loss Lung cancer - 20668451 ABCA17P chr16 2419395 2448860 Gain or loss Ovarian cancer - 20668451 ABCA17P chr16 2419395 2448860 Gain or loss Pancreas cancer - 20668451 ABCA17P chr16 2419395 2448860 Gain or loss Prostate cancer - 20668451 ABCA17P chr16 2419441 2448856 Gain and loss Pancreatic cancer SNP array 17952125 ABCA17P chr16 2419482 2448860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA17P chr16 2419482 2448860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA17P chr16 24203684 24223152 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PRKCB chr16 24222087 24222187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCB chr16 24237802 24737226 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 CACNG3,RBBP6 chr16 24252237 24252368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 24252237 24252369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 24252237 24252369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 62425508 62430564 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 INADL chr1 62427326 62429743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INADL chr1 62427391 62428213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr1 62428782 62429186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr16 24290316 24290416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNG3 chr1 6243122 6255301 Deletion T-cell lymphomas Array-CGH 22341440 RPL22 chr1 6243122 6255301 Gain and loss Pancreatic cancer SNP array 17952125 RPL22 chr1 62431547 63035122 LOH Normal High-resolution SNP genotyping 21211785 DOCK7,INADL,KANK4,L1TD1,USP1 chr16 24318877 24318940 Gain and loss Pancreatic cancer SNP array 17952125 CACNG3 chr16 24327348 24327583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNG3 chr1 62433084 62450586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INADL chr1 62433084 62450586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr16 24398092 24398195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 24401814 24401904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 24433061 24467297 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 2444001 2466000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCA17P chr16 24448475 24453932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 24454975 24455075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 24458408 24491684 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr16 24458408 24491684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 24458409 24491682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 24458409 24491682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 24458409 24491682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 62446396 62446702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr16 2449632 2579885 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ABCA17P,AMDHD2,ATP6V0C,C16orf59,CCNF,NTN3,TBC1D24 chr1 62449817 62449926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr16 2450116 2454964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA17P chr16 2450116 2454964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA17P chr16 2450120 2454957 Gain and loss Pancreatic cancer SNP array 17952125 ABCA17P chr16 24505310 35027180 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AHSP,ALDOA,APOBR,AQP8,ARHGAP17,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf82,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FUS,GDPD3,GSG1L,GTF3C1,HERC2P4,HIRIP3,HS3ST4,HSD3B7,IL21R,IL21R-AS1,IL27,IL4R,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KDM8,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LOC100130700,LOC100289092,LOC100506655,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NSMCE1,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RNA5SP411,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 2457493 2458215 Gain and loss Pancreatic cancer SNP array 17952125 ABCA17P chr16 24580244 24589884 Gain and loss Pancreatic cancer SNP array 17952125 RBBP6 chr16 24581389 24581489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBBP6 chr16 2461500 2464147 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ABCA17P chr16 2461500 2464147 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ABCA17P chr16 2461501 2464147 Gain and loss Pancreatic cancer SNP array 17952125 ABCA17P chr16 2461501 2464147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA17P chr16 24648378 24648693 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr16 24648517 24745049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6A chr16 24648517 24745049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6A chr16 24649071 24743697 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6A chr16 2465148 2493487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA17P,CCNF chr16 2465148 2493487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA17P,CCNF chr16 2466001 2488500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCA17P,CCNF chr1 6246920 6376413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT7,GPR153,HES3,ICMT,RNF207,RPL22 chr1 6246920 6376413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT7,GPR153,HES3,ICMT,RNF207,RPL22 chr16 24692801 25097600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP17,LOC554206,SLC5A11,TNRC6A chr1 62474425 62557671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INADL chr1 62474425 62557671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr1 6247446 6292148 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ICMT,RNF207,RPL22 chr1 62475842 62475949 Gain and loss Pancreatic cancer SNP array 17952125 INADL chr1 62475844 62475949 Gain and loss Pancreatic cancer SNP array 17952125 INADL chr16 24765053 24830444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6A chr16 24765053 24830444 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6A chr16 24765053 24830444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6A chr16 2476826 2810537 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,ERVK13-1,FLJ42627,KCTD5,LOC652276,MIR3178,NTN3,PDPK1,PRSS27,SRRM2,SRRM2-AS1,TBC1D24 chr16 2476826 2810537 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,ERVK13-1,FLJ42627,KCTD5,LOC652276,MIR3178,NTN3,PDPK1,PRSS27,SRRM2,SRRM2-AS1,TBC1D24 chr16 24838211 24934176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP17,SLC5A11 chr16 24838211 24934176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP17,SLC5A11 chr16 24838215 24934153 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP17,SLC5A11 chr16 24850896 25094479 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGAP17,LOC554206,SLC5A11 chr16 2486032 2493487 Gain and loss Pancreatic cancer SNP array 17952125 CCNF chr16 24864212 24864312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC5A11 chr16 2488501 2493000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCNF chr16 2493001 2517000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf59,CCNF chr16 24932579 24932679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP17 chr16 24950566 24951592 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP17 chr16 24983703 24987747 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP17 chr1 62499059 62499158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INADL chr16 24991122 24991210 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ARHGAP17 chr16 250001 288000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITFG3,LUC7L chr16 25013247 25014684 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP17 chr16 25030000 27880000 Gain Ductal carcinoma SNP array 22052326 AQP8,C16orf82,FLJ21408,GSG1L,GTF3C1,HS3ST4,IL21R,IL21R-AS1,IL4R,KDM8,KIAA0556,LCMT1,LOC100506655,LOC554206,NSMCE1,ZKSCAN2 chr16 25030548 25097052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC554206 chr16 25030548 25097052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC554206 chr16 25034197 25034297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2503954 2510219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf59,CCNF chr16 2503954 2510219 Gain and loss Pancreatic cancer SNP array 17952125 C16orf59,CCNF chr16 2503954 2510219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf59,CCNF chr16 25082876 25082976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 25089533 25111249 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 25091459 25091559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 25092656 25117768 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 25097601 26413200 Copy number Normal ReadDepth: A Parallel R Package 21305028 AQP8,HS3ST4,LCMT1,LOC100506655,ZKSCAN2 chr16 2510367 2519732 Gain and loss Pancreatic cancer SNP array 17952125 C16orf59 chr16 2510428 2519732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf59 chr16 2510428 2519732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf59 chr16 25135784 25147752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCMT1 chr16 25135784 25147752 Gain and loss Pancreatic cancer SNP array 17952125 LCMT1 chr16 25135784 25147752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCMT1 chr16 25137428 25138584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LCMT1 chr16 25137479 25138635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LCMT1 chr16 25140265 25141529 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LCMT1 chr16 25154822 25176356 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 LCMT1,LOC100506655 chr16 25154827 25176343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCMT1,LOC100506655 chr16 25154827 25176343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCMT1,LOC100506655 chr16 25158698 25176356 Gain and loss Pancreatic cancer SNP array 17952125 LCMT1,LOC100506655 chr16 2517001 2522500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTN3 chr16 2517082 2521421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2517082 2521421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 25182080 25182180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LCMT1 chr16 251854 1821116 Gain Developmental delay affymetrix genechip 500K/SNP 6.65 array 21147756 ARHGDIG,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf91,C1QTNF8,CACNA1H,CCDC154,CCDC78,CHTF18,CLCN7,CRAMP1L,DECR2,FAM173A,FAM195A,FBXL16,GNG13,GNPTG,HAGHL,HN1L,IFT140,ITFG3,JMJD8,LINC00235,LMF1,LOC100134368,LUC7L,MAPK8IP3,METRN,MIR3176,MIR3177,MIR5587,MIR662,MRPL28,MSLN,NARFL,NHLRC4,NME3,NME4,PDIA2,PIGQ,PRR25,PTX4,RAB11FIP3,RAB40C,RGS11,RHBDL1,RHOT2,RPUSD1,SOLH,SOX8,SSTR5,SSTR5-AS1,STUB1,TELO2,TMEM204,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1 chr16 2520000 26680000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABAT,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,ALG1,AMDHD2,ANKS3,ANKS4B,AQP8,ARHGAP17,ARL6IP1,ATF7IP2,ATP6V0C,BCAR4,BFAR,C16orf45,C16orf5,C16orf52,C16orf62,C16orf71,C16orf72,C16orf88,C16orf89,C16orf90,C16orf96,CACNG3,CARHSP1,CCDC64B,CCP110,CDR2,CEMP1,CHP2,CIITA,CLDN6,CLDN9,CLEC16A,CLEC19A,CLUAP1,COG7,COQ7,CORO7,CORO7-PAM16,CPPED1,CREBBP,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DEXI,DNAH3,DNAJA3,DNASE1,EARS2,EEF2K,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAM100A,FAM18A,FAM86A,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GDE1,GGA2,GLIS2,GLYR1,GP2,GPR139,GPRC5B,GRIN2A,GSPT1,HCFC1R1,HMOX2,HS3ST2,HS3ST4,IGSF6,IL32,IQCK,ITPRIPL2,KCTD5,KIAA0430,KREMEN2,LCMT1,LINC00514,LITAF,LOC100128770,LOC100132247,LOC100190986,LOC100271836,LOC100506655,LOC100507501,LOC440335,LOC554206,LOC652276,LOC653786,LOC81691,LYRM1,MEFV,METTL22,METTL9,MGC3771,MGRN1,MIR193B,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MIR548AA2,MIR548D2,MIR548X,MKL2,MMP25,MPV17L,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NDE1,NDUFAB1,NLRC3,NMRAL1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NTAN1,NTN3,NUBP1,NUDT16L1,OR1F1,OR1F2P,OR2C1,OTOA,PALB2,PAM16,PAQR4,PARN,PDILT,PDPK1,PDXDC1,PDZD9,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,PPL,PRKCB,PRM1,PRM2,PRM3,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,RBBP6,RBFOX1,RMI2,ROGDI,RPS15A,RRN3,RRN3P1,RRN3P3,RSL1D1,SCNN1B,SCNN1G,SEC14L5,SEPT12,SHISA9,SLC5A11,SLC7A5P2,SLX4,SMG1,SMG1P1,SNN,SNX29,SNX29P1,SOCS1,SRL,SRRM2,SRRM2-AS1,SYT17,TBC1D24,TCEB2,TEKT5,TFAP4,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TRAP1,TXNDC11,UBFD1,UBN1,UMOD,UQCRC2,USP31,USP7,VASN,VWA3A,XYLT1,ZC3H7A,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF75A,ZP2,ZSCAN10 chr16 2520082 2520166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2522501 2568250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V0C,NTN3,TBC1D24 chr16 25245801 25252500 Deletion Glioma mate-paired sequence 20126413 ZKSCAN2 chr16 25247611 25250595 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZKSCAN2 chr16 25260758 25268897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZKSCAN2 chr16 2527970 173172108 Gain or loss Breast cancer - 20668451 AARS,ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD11,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf3,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf92,C16orf93,C16orf95,C16orf96,CA5A,CA7,CACNG3,CALB2,CAPNS2,CARHSP1,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC64B,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CEMP1,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CPPED1,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM100A,FAM18A,FAM192A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAS3,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LINC00514,LITAF,LOC100128770,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,MEFV,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3182,MIR328,MIR365A,MIR3935,MIR4517,MIR4518,MIR4519,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MLKL,MLYCD,MMP15,MMP2,MMP25,MON1B,MPHOSPH6,MPV17L,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NDE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC3,NLRC5,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NQO1,NRN1L,NSMCE1,NTAN1,NUBP1,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,PPL,PPP4C,PRDM7,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RLTPR,RMI2,RNA5SP411,RNF166,RNF40,RNU6-76,ROGDI,RPGRIP1L,RPL13,RPS15A,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNN,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,SRL,SRRM2,SRRM2-AS1,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBX6,TCEB2,TCF25,TEKT5,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM208,TMEM219,TMEM231,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAP1,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNDC11,TXNL4B,UBE2MP1,UBFD1,UBN1,UMOD,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF276,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 2527970 173172108 Gain or loss Cancer - 20668451 AARS,ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD11,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf3,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf92,C16orf93,C16orf95,C16orf96,CA5A,CA7,CACNG3,CALB2,CAPNS2,CARHSP1,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC64B,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CEMP1,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CPPED1,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM100A,FAM18A,FAM192A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAS3,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LINC00514,LITAF,LOC100128770,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,MEFV,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3182,MIR328,MIR365A,MIR3935,MIR4517,MIR4518,MIR4519,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MLKL,MLYCD,MMP15,MMP2,MMP25,MON1B,MPHOSPH6,MPV17L,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NDE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC3,NLRC5,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NQO1,NRN1L,NSMCE1,NTAN1,NUBP1,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,PPL,PPP4C,PRDM7,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RLTPR,RMI2,RNA5SP411,RNF166,RNF40,RNU6-76,ROGDI,RPGRIP1L,RPL13,RPS15A,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNN,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,SRL,SRRM2,SRRM2-AS1,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBX6,TCEB2,TCF25,TEKT5,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM208,TMEM219,TMEM231,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAP1,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNDC11,TXNL4B,UBE2MP1,UBFD1,UBN1,UMOD,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF276,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 2527970 173172108 Gain or loss Lung cancer - 20668451 AARS,ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD11,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf3,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf92,C16orf93,C16orf95,C16orf96,CA5A,CA7,CACNG3,CALB2,CAPNS2,CARHSP1,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC64B,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CEMP1,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CPPED1,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM100A,FAM18A,FAM192A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAS3,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LINC00514,LITAF,LOC100128770,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,MEFV,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3182,MIR328,MIR365A,MIR3935,MIR4517,MIR4518,MIR4519,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MLKL,MLYCD,MMP15,MMP2,MMP25,MON1B,MPHOSPH6,MPV17L,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NDE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC3,NLRC5,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NQO1,NRN1L,NSMCE1,NTAN1,NUBP1,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,PPL,PPP4C,PRDM7,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RLTPR,RMI2,RNA5SP411,RNF166,RNF40,RNU6-76,ROGDI,RPGRIP1L,RPL13,RPS15A,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNN,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,SRL,SRRM2,SRRM2-AS1,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBX6,TCEB2,TCF25,TEKT5,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM208,TMEM219,TMEM231,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAP1,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNDC11,TXNL4B,UBE2MP1,UBFD1,UBN1,UMOD,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF276,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 2527970 173172108 Gain or loss Ovarian cancer - 20668451 AARS,ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD11,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf3,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf92,C16orf93,C16orf95,C16orf96,CA5A,CA7,CACNG3,CALB2,CAPNS2,CARHSP1,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC64B,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CEMP1,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CPPED1,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM100A,FAM18A,FAM192A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAS3,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LINC00514,LITAF,LOC100128770,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,MEFV,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3182,MIR328,MIR365A,MIR3935,MIR4517,MIR4518,MIR4519,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MLKL,MLYCD,MMP15,MMP2,MMP25,MON1B,MPHOSPH6,MPV17L,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NDE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC3,NLRC5,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NQO1,NRN1L,NSMCE1,NTAN1,NUBP1,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,PPL,PPP4C,PRDM7,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RLTPR,RMI2,RNA5SP411,RNF166,RNF40,RNU6-76,ROGDI,RPGRIP1L,RPL13,RPS15A,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNN,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,SRL,SRRM2,SRRM2-AS1,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBX6,TCEB2,TCF25,TEKT5,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM208,TMEM219,TMEM231,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAP1,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNDC11,TXNL4B,UBE2MP1,UBFD1,UBN1,UMOD,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF276,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 2527970 173172108 Gain or loss Pancreas cancer - 20668451 AARS,ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD11,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf3,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf92,C16orf93,C16orf95,C16orf96,CA5A,CA7,CACNG3,CALB2,CAPNS2,CARHSP1,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC64B,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CEMP1,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CPPED1,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM100A,FAM18A,FAM192A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAS3,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LINC00514,LITAF,LOC100128770,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,MEFV,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3182,MIR328,MIR365A,MIR3935,MIR4517,MIR4518,MIR4519,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MLKL,MLYCD,MMP15,MMP2,MMP25,MON1B,MPHOSPH6,MPV17L,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NDE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC3,NLRC5,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NQO1,NRN1L,NSMCE1,NTAN1,NUBP1,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,PPL,PPP4C,PRDM7,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RLTPR,RMI2,RNA5SP411,RNF166,RNF40,RNU6-76,ROGDI,RPGRIP1L,RPL13,RPS15A,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNN,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,SRL,SRRM2,SRRM2-AS1,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBX6,TCEB2,TCF25,TEKT5,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM208,TMEM219,TMEM231,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAP1,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNDC11,TXNL4B,UBE2MP1,UBFD1,UBN1,UMOD,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF276,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 2527970 173172108 Gain or loss Prostate cancer - 20668451 AARS,ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,ADCY9,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD11,ANKRD26P1,ANKS3,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0C,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf3,C16orf45,C16orf46,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf71,C16orf72,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf92,C16orf93,C16orf95,C16orf96,CA5A,CA7,CACNG3,CALB2,CAPNS2,CARHSP1,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC64B,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CEMP1,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLDN6,CLDN9,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CLUAP1,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CPPED1,CREBBP,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DNAJA3,DNASE1,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM100A,FAM18A,FAM192A,FAM57B,FAM65A,FAM86A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GLIS2,GLYR1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAS3,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL32,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KCTD5,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,KREMEN2,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LINC00514,LITAF,LOC100128770,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,MEFV,METTL22,METTL9,MGC23284,MGC3771,MGRN1,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3182,MIR328,MIR365A,MIR3935,MIR4517,MIR4518,MIR4519,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MLKL,MLYCD,MMP15,MMP2,MMP25,MON1B,MPHOSPH6,MPV17L,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTRNR2L4,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NDE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC3,NLRC5,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NQO1,NRN1L,NSMCE1,NTAN1,NUBP1,NUDT16L1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDILT,PDP2,PDPK1,PDPR,PDXDC1,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,PPL,PPP4C,PRDM7,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RLTPR,RMI2,RNA5SP411,RNF166,RNF40,RNU6-76,ROGDI,RPGRIP1L,RPL13,RPS15A,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNAI3,SNN,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,SRL,SRRM2,SRRM2-AS1,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBC1D24,TBX6,TCEB2,TCF25,TEKT5,TEPP,TERF2,TERF2IP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM208,TMEM219,TMEM231,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAP1,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNDC11,TXNL4B,UBE2MP1,UBFD1,UBN1,UMOD,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VASN,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF19,ZNF200,ZNF205,ZNF213,ZNF23,ZNF263,ZNF267,ZNF276,ZNF319,ZNF423,ZNF434,ZNF469,ZNF48,ZNF500,ZNF597,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2,ZSCAN10 chr16 2527970 2633298 Copy number Breast cancer - 21806811 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527970 2633298 Gain or loss Breast cancer - 20668451 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527970 2633298 Gain or loss Cancer - 20668451 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527970 2633298 Gain or loss Lung cancer - 20668451 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527970 2633298 Gain or loss Ovarian cancer - 20668451 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527970 2633298 Gain or loss Pancreas cancer - 20668451 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527970 2633298 Gain or loss Prostate cancer - 20668451 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527971 2593190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527971 2593190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2527982 2590978 Gain and loss Pancreatic cancer SNP array 17952125 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2530025 2645942 Gain Normal Birdsuite, version 1.5.2 22087296 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1,TBC1D24 chr16 2536014 2536062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D24 chr1 62536409 62536516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INADL chr16 25373161 25373469 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 25390220 25390320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 62542553 62542653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INADL chr16 2544102 2554644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D24 chr16 25458314 25472975 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 62550928 64917453 Copy number gain Normal High-resolution SNP genotyping 21211785 ALG6,ANGPTL3,ATG4C,DLEU2L,DOCK7,EFCAB7,FOXD3,INADL,ITGB3BP,KANK4,L1TD1,LINC00466,PGM1,ROR1,UBE2U,USP1 chr16 25531056 25531362 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 25532212 25718755 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HS3ST4 chr16 25546878 25547657 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 62556222 63239826 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr16 25580966 25581066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 25610847 26056510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr16 25610848 26055070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS3ST4 chr16 25611240 26055070 Gain and loss Pancreatic cancer SNP array 17952125 HS3ST4 chr16 25617500 25617600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 25629276 25629330 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 2568251 2575500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMDHD2,ATP6V0C chr16 2575501 2682500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMDHD2,CEMP1,LOC652276,MIR3178,PDPK1 chr1 62575832 63153798 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr16 2575882 2681813 Duplication Normal Affymetrix 6.0 microarrays 20967226 AMDHD2,CEMP1,LOC652276,MIR3178,PDPK1 chr16 25766498 25766583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr1 62576849 63132606 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr1 62579330 63197298 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr16 25807393 25807493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr16 258301 265930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LUC7L chr16 258301 265930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LUC7L chr16 258301 265955 Gain and loss Pancreatic cancer SNP array 17952125 LUC7L chr16 258310 265915 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LUC7L chr16 25842322 26941975 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HS3ST4 chr1 6258599 6388087 Deletion T-cell lymphomas Array-CGH 22341440 ACOT7,GPR153,HES3,ICMT,RNF207,RPL22 chr1 6258599 6388087 Gain and loss Pancreatic cancer SNP array 17952125 ACOT7,GPR153,HES3,ICMT,RNF207,RPL22 chr16 25864734 25865734 Gain Osteosarcoma References 21215367 HS3ST4 chr1 62587570 63197298 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr16 2589045 2677262 Loss or gain Normal 244K array 17666407 LOC652276,PDPK1 chr16 2589819 2676116 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 LOC652276,PDPK1 chr16 2589819 2676116 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC652276,PDPK1 chr16 25915274 25915374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr16 2592267 2592458 Gain and loss Pancreatic cancer SNP array 17952125 PDPK1 chr16 2592267 2592458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDPK1 chr16 2593352 2620496 Gain and loss Pancreatic cancer SNP array 17952125 PDPK1 chr16 2593352 2620496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDPK1 chr16 2593385 2620496 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PDPK1 chr16 25934746 25934846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr16 25947734 25947823 Gain and loss Pancreatic cancer SNP array 17952125 HS3ST4 chr16 25947734 25947847 Gain and loss Pancreatic cancer SNP array 17952125 HS3ST4 chr16 25947734 25947847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS3ST4 chr16 25950988 25951242 Gain and loss Pancreatic cancer SNP array 17952125 HS3ST4 chr16 25951361 25951633 Gain and loss Pancreatic cancer SNP array 17952125 HS3ST4 chr16 25951361 25951633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS3ST4 chr16 25981574 25981919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS3ST4 chr16 25991260 25991360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr16 2606123 2633298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDPK1 chr16 2606123 2633298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDPK1 chr16 26065714 26098370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HS3ST4 chr16 26066331 26093613 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HS3ST4 chr16 26078840 26078940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr16 26085009 26085109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr16 26087911 26097570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HS3ST4 chr16 26090356 26116844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HS3ST4 chr16 26111667 26111757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr1 62612414 63164531 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr1 62612414 63168791 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr16 26141413 26141513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST4 chr1 62614700 62629430 Gain and loss Pancreatic cancer SNP array 17952125 INADL chr1 62615714 63116514 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr1 62615714 63132606 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr16 26171135 26171235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 26189217 26941975 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 62620689 63132606 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr1 62622611 63143988 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr1 62622611 63164531 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr1 62622611 63232435 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,INADL,KANK4,L1TD1,USP1 chr16 26270394 26270492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 26273618 26277177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 26290901 26291233 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 62631090 63132606 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,KANK4,L1TD1,USP1 chr1 62632705 62865990 Gain and loss Pancreatic cancer SNP array 17952125 KANK4,L1TD1 chr16 26357431 26374914 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 62639192 63164531 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,KANK4,L1TD1,USP1 chr1 62639910 63183764 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,KANK4,L1TD1,USP1 chr16 26403325 26403425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 62641251 63239239 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,KANK4,L1TD1,USP1 chr16 26413201 28740800 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOBR,C16orf82,CCDC101,CLN3,EIF3C,EIF3CL,FLJ21408,GSG1L,GTF3C1,IL21R,IL21R-AS1,IL27,IL4R,KDM8,KIAA0556,NSMCE1,NUPR1,SBK1,SULT1A1,SULT1A2,XPO6 chr16 2645942 2681813 Gain Normal Birdsuite, version 1.5.2 22087296 LOC652276,PDPK1 chr16 26461468 26461496 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr16 26468692 26468792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2651367 2652815 Gain and loss Pancreatic cancer SNP array 17952125 PDPK1 chr16 26515525 26515866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 26548 293489 Copy number Autism exome sequencing 22495311 DDX11L10,HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,LUC7L,MPG,NPRL3,POLR3K,RHBDF1,SNRNP25 chr16 26560245 26560345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 26565700 26565771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 6266177 6315911 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPR153,HES3,ICMT,RNF207 chr16 26630445 26663071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 26671 81659 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DDX11L10 chr16 26695137 26695237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 266993 1081992 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGDIG,AXIN1,C16orf11,C16orf13,CCDC78,CHTF18,DECR2,FAM173A,FAM195A,FBXL16,GNG13,HAGHL,ITFG3,JMJD8,LINC00235,LMF1,LOC100134368,LUC7L,METRN,MIR3176,MIR5587,MIR662,MRPL28,MSLN,NARFL,NHLRC4,NME4,PDIA2,PIGQ,PRR25,RAB11FIP3,RAB40C,RGS11,RHBDL1,RHOT2,RPUSD1,SOLH,SOX8,STUB1,TMEM8A,WDR24,WDR90,WFIKKN1 chr16 2670682 2670873 Gain and loss Pancreatic cancer SNP array 17952125 LOC652276 chr16 2670682 2670873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC652276 chr16 26713888 26713988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 62671556 63177533 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,KANK4,L1TD1,USP1 chr1 62671556 63189352 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,KANK4,L1TD1,USP1 chr1 62671556 63247620 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,KANK4,L1TD1,USP1 chr16 2672499 2699030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ42627,LOC652276 chr16 2672499 2699030 Gain and loss Pancreatic cancer SNP array 17952125 FLJ42627,LOC652276 chr16 2672499 2699030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ42627,LOC652276 chr1 62674459 63189352 LOH Normal High-resolution SNP genotyping 21211785 ANGPTL3,DOCK7,KANK4,L1TD1,USP1 chr1 62674562 62690503 Gain or loss Breast cancer - 20668451 L1TD1 chr1 62674562 62690503 Gain or loss Cancer - 20668451 L1TD1 chr1 62674562 62690503 Gain or loss Lung cancer - 20668451 L1TD1 chr1 62674562 62690503 Gain or loss Ovarian cancer - 20668451 L1TD1 chr1 62674562 62690503 Gain or loss Pancreas cancer - 20668451 L1TD1 chr1 62674562 62690503 Gain or loss Prostate cancer - 20668451 L1TD1 chr1 62674563 62690061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 L1TD1 chr1 62674563 62690061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 L1TD1 chr16 2678957 3208243 LOH Normal High-resolution SNP genotyping 21211785 CCDC64B,CLDN6,CLDN9,ERVK13-1,FLJ42627,FLYWCH1,FLYWCH2,HCFC1R1,IL32,KCTD5,KREMEN2,LINC00514,LOC100128770,LOC652276,MGC3771,MMP25,PAQR4,PKMYT1,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,SRRM2,SRRM2-AS1,TCEB2,THOC6,TNFRSF12A,ZG16B,ZNF205,ZNF213,ZSCAN10 chr16 26800000 60240000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABCC11,ABCC12,ADCY7,AHSP,AKTIP,ALDOA,AMFR,ANKRD26P1,APOBR,ARL2BP,ARMC5,ASPHD1,ATP2A1,ATXN2L,BBS2,BCKDK,BCL7C,BOLA2,BOLA2B,BRD7,C16orf53,C16orf54,C16orf58,C16orf78,C16orf80,C16orf82,C16orf87,C16orf92,C16orf93,CAPNS2,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CD19,CD2BP2,CDIPT,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,CLN3,CNEP1R1,CNGB1,CNOT1,COQ9,CORO1A,COX6A2,CPNE2,CRNDE,CSDAP1,CSNK2A2,CTF1,CX3CL1,CYLD,DCTPP1,DKFZP434H168,DNAJA2,DOC2A,DOK4,EIF3C,EIF3CL,FAM192A,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FTO,FUS,GDPD3,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,GSG1L,GTF3C1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HSD3B7,IL21R,IL21R-AS1,IL27,IL4R,INO80E,IRX3,IRX5,IRX6,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KATNB1,KCTD13,KDM8,KIAA0556,KIAA0664L3,KIF22,KIFC3,LAT,LINC00273,LOC100130700,LOC100289092,LOC100505619,LOC100507577,LOC100862671,LOC146481,LOC283856,LOC283914,LOC388242,LOC388276,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC729264,LOC730183,LONP2,LPCAT2,MAPK3,MAZ,MIR138-2,MIR3935,MIR4517,MIR4518,MIR4519,MIR4721,MIR548AE2,MIR762,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MVP,MYLK3,MYLPF,N4BP1,NDRG4,NETO2,NFATC2IP,NKD1,NLRC5,NOD2,NSMCE1,NUDT21,NUP93,NUPR1,OGFOD1,ORAI3,ORC6,PAPD5,PHKB,PHKG2,PLLP,POLR2C,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBL2,RNA5SP411,RNF40,RNU6-76,RPGRIP1L,RRN3P2,RSPRY1,SALL1,SBK1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC38A7,SLC5A2,SLC6A10P,SLC6A2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNORA46,SNORA50,SNX20,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TEPP,TGFB1I1,TMEM219,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,USB1,VKORC1,VPS35,XPO6,YPEL3,ZG16,ZNF267,ZNF319,ZNF423,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 26824422 26826998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 2682501 2711000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERVK13-1,FLJ42627 chr16 26825643 26841702 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 26837950 26838014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6268501 6401000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACOT7,GPR153,HES3,ICMT,RNF207 chr16 26865598 26865698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 26869481 26869554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 26870756 26870887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 62692987 62926557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK7,KANK4,USP1 chr1 62692987 62926557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK7,KANK4,USP1 chr16 26942000 28606000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 APOBR,C16orf82,CCDC101,CLN3,EIF3C,EIF3CL,FLJ21408,GSG1L,GTF3C1,IL21R,IL21R-AS1,IL27,IL4R,KDM8,KIAA0556,NSMCE1,NUPR1,SBK1,SULT1A2,XPO6 chr16 26950539 26950571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 26957621 26957741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 26969501 27134500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf82 chr1 62697088 63142732 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-278K arrays 21546498 ANGPTL3,DOCK7,KANK4,USP1 chr16 26985529 26987987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 2702424 2710553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERVK13-1 chr16 2702424 2710553 Gain and loss Pancreatic cancer SNP array 17952125 ERVK13-1 chr16 2702424 2710553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERVK13-1 chr16 2703021 2703102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 27052305 27054001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 270607 273004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LUC7L chr16 270607 273004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LUC7L chr16 270628 277215 Gain and loss Pancreatic cancer SNP array 17952125 LUC7L chr16 27074671 27074755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2711001 2829000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERVK13-1,KCTD5,PRSS27,SRRM2,SRRM2-AS1,TCEB2 chr16 27122317 27140544 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 27122317 27140544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 27133374 27133808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 27134501 27151500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 27143817 27187586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 27143817 27187614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 27151501 27163500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 27214409 27215027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KDM8 chr16 27228563 27228653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM8 chr16 27230001 27281500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ21408,KDM8,NSMCE1 chr16 27232752 27283600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ21408,KDM8,NSMCE1 chr16 27232752 27283600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ21408,KDM8,NSMCE1 chr16 27259005 27283596 Gain and loss Pancreatic cancer SNP array 17952125 FLJ21408,NSMCE1 chr16 27267854 27267948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NSMCE1 chr16 2727105 2730806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2727105 2730806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 27273001 27579400 Deletion Glioma mate-paired sequence 20126413 FLJ21408,GTF3C1,IL21R,IL21R-AS1,IL4R,KIAA0556,NSMCE1 chr16 27281501 27283000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ21408 chr16 27283001 27320500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ21408 chr16 273119 277210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LUC7L chr16 273119 277210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LUC7L chr16 27320501 27325500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IL4R chr16 27321223 27369616 Gain or loss Breast cancer - 20668451 IL4R chr16 27321223 27369616 Gain or loss Cancer - 20668451 IL4R chr16 27321223 27369616 Gain or loss Lung cancer - 20668451 IL4R chr16 27321223 27369616 Gain or loss Ovarian cancer - 20668451 IL4R chr16 27321223 27369616 Gain or loss Pancreas cancer - 20668451 IL4R chr16 27321223 27369616 Gain or loss Prostate cancer - 20668451 IL4R chr16 27321224 27369616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL4R chr16 27321224 27369616 Gain and loss Pancreatic cancer SNP array 17952125 IL4R chr16 27321224 27369616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL4R chr16 27331719 27349351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL4R chr16 27347001 27384500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IL4R chr16 27347023 27347455 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 IL4R chr16 27362945 27363014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IL4R chr16 27379436 27468721 Gain and loss Pancreatic cancer SNP array 17952125 IL21R,IL21R-AS1 chr16 27379436 27468752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL21R,IL21R-AS1 chr16 27379436 27468752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL21R,IL21R-AS1 chr16 27380243 27428251 Amplification or deletion Cancer Array CGH 17440070 IL21R chr16 27384501 27685000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GTF3C1,IL21R,IL21R-AS1,KIAA0556 chr16 2742330 2761414 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 KCTD5 chr16 2742331 2761412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCTD5 chr16 2742331 2761412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCTD5 chr16 2742655 2761412 Gain and loss Pancreatic cancer SNP array 17952125 KCTD5 chr16 27468971 27699190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF3C1,KIAA0556 chr16 27468971 27699190 Gain and loss Pancreatic cancer SNP array 17952125 GTF3C1,KIAA0556 chr16 27468971 27699190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF3C1,KIAA0556 chr16 27491679 27499577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GTF3C1 chr16 27514183 27514215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTF3C1 chr16 27580722 27580840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0556 chr16 27600000 34400000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Copy number Epilepsy References 22499536 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Copy number Normal - 21701786 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Autism - 22513405 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Autism Affymetrix 5.0 platform 18184952 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Autism high-density microarrays 22241247 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Autism ref 20970697 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Autism References 19966786 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Autism References 21394203 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Developmental delay array CGH 20808231 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Epilepsy ref 20970697 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Intellectual disability - 22045946 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Mental retardation References 19966786 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion Obesity array CGH 20808231 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion or duplication Autism from references 18923514 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion or duplication Autism References 22566537 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion or duplication Intellectual disability References 22566537 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion or duplication Mental retardation References 19951919 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion or duplication Obesity comparative genomic hybridization 21881559 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion or duplication Obesity References 21956041 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Autism - 20659124 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Autism Affymetrix 5.0, Illumina 550K, and Affymetrix 500K 19242545 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Autism ref 20970697 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Autism References 21394203 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Mental retardation \N 21062444 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Schizophrenia - 20587603 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Schizophrenia Genome-Wide Approaches 20433910 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Schizophrenia high-density microarrays 22241247 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Schizophrenia ref 20970697 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Duplication Schizophrenia References 20553308 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Gain Intracranial ependymoma matrix-based CGH 16609018 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Gain Schizophrenia Affymetrix 6.0 array 21399695 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Inherited homozygous deletion or duplication Autism References 21956041 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Loss Disorders of sex development - 21048976 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Microdeletion and microduplication Autism References 19218893 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Microdeletion Autism aCGH 18156158 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Microdeletion Autism References 22067053 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Microdeletion Mental retardation array-CGH 20152051 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Microdeletions and microduplications Autism - 21394203 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Microduplication neurodevelopmental Syndrome Array CGH 20503337 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 34400000 Microduplication Schizophrenia NimbleGen HD2, Affymetrix 6.0, Affymetrix 500K and ROMA 85K 19855392 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 38200000 Copy number Benign familial neonatal-infantile seizures 244K Human CGH (G4411B) microarray 21060786 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ26245,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100130700,LOC100289092,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNA5SP411,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 38200000 Gain Breast cancer aCGH 21045282 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ26245,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100130700,LOC100289092,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNA5SP411,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 38200000 Loss Cancer array-based techniques 21183584 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ26245,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100130700,LOC100289092,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNA5SP411,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 38200000 Loss Disorders of sex development oligo V6.5 21048976 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ26245,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100130700,LOC100289092,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNA5SP411,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27600000 38200000 Translocation Low-grade fibromyxoid sarcoma HumanOmni 1-Quad v 1.0 array 21536545 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ26245,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100130700,LOC100289092,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNA5SP411,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 2761416 2767298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRSS27 chr16 2761416 2767298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRSS27 chr16 2761417 2767140 Gain and loss Pancreatic cancer SNP array 17952125 PRSS27 chr16 27641106 27641214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0556 chr16 27641107 27641214 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0556 chr16 27641108 27641214 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0556 chr16 2766899 2767132 Loss Autism 1M Ailent CGH whole-genome array 21865298 PRSS27 chr16 27685001 27706000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0556 chr16 27706001 28028000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GSG1L,KIAA0556 chr16 27706350 27982331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GSG1L,KIAA0556 chr16 27706351 27982331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSG1L,KIAA0556 chr16 27706351 27982331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSG1L,KIAA0556 chr16 27709717 27806979 Gain and loss Pancreatic cancer SNP array 17952125 GSG1L,KIAA0556 chr16 2773955 2777451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2773955 2777451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2773955 2777950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 277440 342465 Gain or loss Breast cancer - 20668451 ARHGDIG,AXIN1,ITFG3,LUC7L,PDIA2,RGS11 chr16 277440 342465 Gain or loss Cancer - 20668451 ARHGDIG,AXIN1,ITFG3,LUC7L,PDIA2,RGS11 chr16 277440 342465 Gain or loss Lung cancer - 20668451 ARHGDIG,AXIN1,ITFG3,LUC7L,PDIA2,RGS11 chr16 277440 342465 Gain or loss Ovarian cancer - 20668451 ARHGDIG,AXIN1,ITFG3,LUC7L,PDIA2,RGS11 chr16 277440 342465 Gain or loss Pancreas cancer - 20668451 ARHGDIG,AXIN1,ITFG3,LUC7L,PDIA2,RGS11 chr16 277440 342465 Gain or loss Prostate cancer - 20668451 ARHGDIG,AXIN1,ITFG3,LUC7L,PDIA2,RGS11 chr16 277441 337110 Gain and loss Pancreatic cancer SNP array 17952125 ARHGDIG,ITFG3,LUC7L,PDIA2,RGS11 chr16 277441 342465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGDIG,AXIN1,ITFG3,LUC7L,PDIA2,RGS11 chr16 277441 342465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGDIG,AXIN1,ITFG3,LUC7L,PDIA2,RGS11 chr1 62775208 62783201 Gain and loss Pancreatic cancer SNP array 17952125 KANK4 chr16 27782073 27782176 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0556 chr16 27782073 27782178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0556 chr16 27783177 34570899 Loss Neuroblastoma aCGH 20406844 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,GSG1L,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0556,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 27787937 27789903 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA0556 chr16 27798338 27798438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 2786410 2786534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2788487 2795134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM2-AS1 chr16 2788487 2795134 Gain and loss Pancreatic cancer SNP array 17952125 SRRM2-AS1 chr16 2788487 2795134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM2-AS1 chr16 27887666 27889263 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GSG1L chr16 27917117 27917223 Gain and loss Pancreatic cancer SNP array 17952125 GSG1L chr16 27917117 27917223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSG1L chr16 279184 279744 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 LUC7L chr16 28016801 28130205 Gain and loss Pancreatic cancer SNP array 17952125 GSG1L,XPO6 chr16 28016817 28130691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSG1L,XPO6 chr16 28016817 28130691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSG1L,XPO6 chr16 28031436 28031518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GSG1L chr16 2807165 2811721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM2 chr16 2807165 2811721 Gain and loss Pancreatic cancer SNP array 17952125 SRRM2 chr16 2807165 2811721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM2 chr16 28082639 28922556 Gain Anaplastic thyroid cancer 33K microarrays 18753363 APOBR,ATP2A1,ATXN2L,CCDC101,CLN3,EIF3C,EIF3CL,IL27,LOC100289092,MIR4721,NUPR1,RABEP2,SBK1,SH2B1,SULT1A1,SULT1A2,TUFM,XPO6 chr16 28082639 29058054 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOBR,ATP2A1,ATXN2L,CCDC101,CD19,CLN3,EIF3C,EIF3CL,IL27,LAT,LOC100289092,MIR4517,MIR4721,NFATC2IP,NUPR1,RABEP2,SBK1,SH2B1,SPNS1,SULT1A1,SULT1A2,TUFM,XPO6 chr16 28085248 29588307 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 APOBR,ATP2A1,ATXN2L,BOLA2,BOLA2B,CCDC101,CD19,CLN3,EIF3C,EIF3CL,IL27,LAT,LOC100289092,LOC388242,LOC440354,LOC606724,LOC613038,MIR4517,MIR4721,NFATC2IP,NUPR1,RABEP2,RRN3P2,SBK1,SH2B1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPNS1,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TUFM,XPO6 chr16 28087 3208434 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ABCA17P,ABCA3,AMDHD2,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf59,C16orf79,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CRAMP1L,DDX11L10,DECR2,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM173A,FAM195A,FBXL16,FLJ42627,FLYWCH1,FLYWCH2,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC652276,LUC7L,MAPK8IP3,MEIOB,METRN,MGC3771,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,THOC6,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZG16B,ZNF205,ZNF213,ZNF598,ZSCAN10 chr16 28097074 28556705 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 APOBR,CLN3,EIF3C,EIF3CL,IL27,NUPR1,SBK1,XPO6 chr16 28097693 28097793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 28097920 28098045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28097920 28098045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28100000 34600000 Deletion Attention deficit hyperactivity disorder Affymetrix Human Mapping SNP 6.0 GeneChip 19097825 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Deletion Autism Human 1M BeadChip SNP array 19050728 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Deletion Epilepsy ref 20923578 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Deletion or duplication Autism ref 20964600 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Deletion or duplication Schizophrenia Array CGH 19955444 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Deletion Psychiatric disorder Human 1M BeadChip SNP array 19050728 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Deletion Schizophrenia CGH screen 19348701 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Duplication Schizophrenia References 18990708 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Duplication Schizophrenia References 19571808 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 34600000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 36600000 Loss Basal cell lymphoma Array CGH 16317097 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ26245,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100130700,LOC100289092,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNA5SP411,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 36600000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ26245,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100130700,LOC100289092,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNA5SP411,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100000 66700000 Amplification Esophageal squamous carcinoma CGH 18350619 ABCC11,ABCC12,ADCY7,AHSP,AKTIP,ALDOA,AMFR,ANKRD26P1,APOBR,ARL2BP,ARMC5,ASPHD1,ATP2A1,ATXN2L,BBS2,BCKDK,BCL7C,BEAN1,BOLA2,BOLA2B,BRD7,C16orf53,C16orf54,C16orf58,C16orf78,C16orf80,C16orf87,C16orf92,C16orf93,CAPNS2,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CD19,CD2BP2,CDH11,CDH5,CDH8,CDIPT,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,CKLF,CKLF-CMTM1,CLN3,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,COQ9,CORO1A,COX6A2,CPNE2,CRNDE,CSDAP1,CSNK2A2,CTF1,CX3CL1,CYLD,DCTPP1,DKFZP434H168,DNAJA2,DOC2A,DOK4,EIF3C,EIF3CL,FAM192A,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ26245,FTO,FUS,GDPD3,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HEATR3,HERC2P4,HERPUD1,HIRIP3,HSD3B7,IL27,INO80E,IRX3,IRX5,IRX6,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KATNB1,KCTD13,KIAA0664L3,KIF22,KIFC3,LAT,LINC00273,LOC100130700,LOC100289092,LOC100505619,LOC100505865,LOC100507577,LOC100862671,LOC146481,LOC283856,LOC283867,LOC283914,LOC388242,LOC388276,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC729264,LOC730183,LONP2,LPCAT2,MAPK3,MAZ,MIR138-2,MIR3935,MIR4517,MIR4518,MIR4519,MIR4721,MIR548AE2,MIR762,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MVP,MYLK3,MYLPF,N4BP1,NDRG4,NETO2,NFATC2IP,NKD1,NLRC5,NOD2,NUDT21,NUP93,NUPR1,OGFOD1,ORAI3,ORC6,PAPD5,PHKB,PHKG2,PLLP,POLR2C,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBL2,RNA5SP411,RNF40,RNU6-76,RPGRIP1L,RRN3P2,RSPRY1,SALL1,SBK1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SH2B1,SHCBP1,SIAH1,SLC12A3,SLC38A7,SLC5A2,SLC6A10P,SLC6A2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNORA46,SNORA50,SNX20,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TEPP,TGFB1I1,TK2,TMEM219,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,USB1,VKORC1,VPS35,XPO6,YPEL3,ZG16,ZNF267,ZNF319,ZNF423,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28100001 34600000 Gain Autism Array CGH 18522746 AHSP,ALDOA,APOBR,ARMC5,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf58,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CSDAP1,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HERC2P4,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIAA0664L3,KIF22,LAT,LINC00273,LOC100289092,LOC100862671,LOC283914,LOC388242,LOC390705,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC729264,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RNU6-76,RRN3P2,SBK1,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC5A2,SLC6A10P,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TGFB1I1,TMEM219,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,UBE2MP1,VKORC1,XPO6,YPEL3,ZG16,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 28102140 28102250 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28102140 28102252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2811754 4515862 Gain Developmental delay affymetrix genechip 500K/SNP 6.66 array 21147756 ADCY9,C16orf90,CCDC64B,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CREBBP,DNAJA3,DNASE1,FLJ39639,FLYWCH1,FLYWCH2,GLIS2,HCFC1R1,IL32,KREMEN2,LINC00514,LOC100128770,LOC100507501,MEFV,MGC3771,MMP25,MTRNR2L4,NAA60,NLRC3,NMRAL1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PKMYT1,PRSS21,PRSS22,PRSS30P,PRSS33,PRSS41,SLX4,SRL,SRRM2,TCEB2,TFAP4,THOC6,TIGD7,TNFRSF12A,TRAP1,VASN,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF597,ZNF75A,ZSCAN10 chr16 28129501 28293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 XPO6 chr16 28140185 28751472 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOBR,CCDC101,CLN3,EIF3C,EIF3CL,IL27,NUPR1,SBK1,SULT1A1,SULT1A2,XPO6 chr16 28140185 28751472 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOBR,CCDC101,CLN3,EIF3C,EIF3CL,IL27,NUPR1,SBK1,SULT1A1,SULT1A2,XPO6 chr16 28140185 29058054 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOBR,ATP2A1,ATXN2L,CCDC101,CD19,CLN3,EIF3C,EIF3CL,IL27,LAT,LOC100289092,MIR4517,MIR4721,NFATC2IP,NUPR1,RABEP2,SBK1,SH2B1,SPNS1,SULT1A1,SULT1A2,TUFM,XPO6 chr16 28141539 28154008 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 XPO6 chr16 2814790 2814890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRRM2 chr16 28183011 28183181 Gain and loss Pancreatic cancer SNP array 17952125 XPO6 chr16 28187489 30321298 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,APOBR,ASPHD1,ATP2A1,ATXN2L,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CCDC101,CD19,CDIPT,CLN3,CORO1A,DOC2A,EIF3C,EIF3CL,FAM57B,GDPD3,HIRIP3,IL27,INO80E,KCTD13,KIF22,LAT,LOC100289092,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MIR4517,MIR4721,MVP,NFATC2IP,NUPR1,PPP4C,PRRT2,QPRT,RABEP2,RRN3P2,SBK1,SEZ6L2,SH2B1,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SPNS1,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,TUFM,XPO6,YPEL3,ZG16 chr16 28187489 30338866 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,APOBR,ASPHD1,ATP2A1,ATXN2L,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CCDC101,CD19,CDIPT,CLN3,CORO1A,DOC2A,EIF3C,EIF3CL,FAM57B,GDPD3,HIRIP3,IL27,INO80E,KCTD13,KIF22,LAT,LOC100289092,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MIR4517,MIR4721,MVP,NFATC2IP,NUPR1,PPP4C,PRRT2,QPRT,RABEP2,RRN3P2,SBK1,SEZ6L2,SH2B1,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SPNS1,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,TUFM,XPO6,YPEL3,ZG16 chr16 28194273 28194306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPO6 chr16 28199775 28883867 LOH Normal High-resolution SNP genotyping 21211785 APOBR,ATXN2L,CCDC101,CLN3,EIF3C,EIF3CL,IL27,MIR4721,NUPR1,SBK1,SH2B1,SULT1A1,SULT1A2,TUFM,XPO6 chr16 2820174 2822285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRRM2,TCEB2 chr16 2820174 2822285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRRM2,TCEB2 chr16 2820234 2822280 Gain and loss Pancreatic cancer SNP array 17952125 SRRM2,TCEB2 chr16 28210743 29013720 LOH Normal High-resolution SNP genotyping 21211785 APOBR,ATP2A1,ATXN2L,CCDC101,CD19,CLN3,EIF3C,EIF3CL,IL27,LAT,LOC100289092,MIR4517,MIR4721,NFATC2IP,NUPR1,RABEP2,SBK1,SH2B1,SPNS1,SULT1A1,SULT1A2,TUFM,XPO6 chr16 28211341 28242661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPO6 chr16 28211341 28242661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPO6 chr16 2822742 2822836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCEB2 chr16 28236214 28239743 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28262355 28275423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28263163 28275423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 62827012 62860865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2829001 2833000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 28293501 28357500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SBK1 chr16 2829576 2831329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2829576 2831329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 2829576 2831329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28298403 28322701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SBK1 chr16 28298403 28322701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SBK1 chr16 2832986 2855592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS33,PRSS41 chr16 2833001 2885000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRSS21,PRSS33,PRSS41,ZG16B chr16 28332525 28333958 Gain and loss Pancreatic cancer SNP array 17952125 SBK1 chr16 28332525 28333958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SBK1 chr16 2834323 2857833 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS33,PRSS41 chr16 28357501 28508000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOBR,CLN3,EIF3C,EIF3CL chr1 62835775 62843768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 62835775 62843768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2836616 2836714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRSS33 chr16 2837445 2837522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 28377001 28389260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28377001 28389260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2839137 2860376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS41 chr16 28394123 31439837 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ALDOA,APOBR,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CLN3,CORO1A,COX6A2,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HIRIP3,HSD3B7,IL27,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIF22,LAT,LOC100289092,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RRN3P2,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,TRIM72,TUFM,VKORC1,YPEL3,ZG16,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 28396101 28411124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3C,EIF3CL chr16 28396101 28411124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3C,EIF3CL chr16 28396102 28413398 Gain and loss Pancreatic cancer SNP array 17952125 EIF3C,EIF3CL chr16 28398018 30227808 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ALDOA,APOBR,ASPHD1,ATP2A1,ATXN2L,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CCDC101,CD19,CDIPT,CLN3,CORO1A,DOC2A,EIF3C,EIF3CL,FAM57B,GDPD3,HIRIP3,IL27,INO80E,KCTD13,KIF22,LAT,LOC100289092,LOC388242,LOC440354,LOC440356,LOC606724,LOC613038,MAPK3,MAZ,MIR4517,MIR4721,MVP,NFATC2IP,NUPR1,PPP4C,PRRT2,QPRT,RABEP2,RRN3P2,SEZ6L2,SH2B1,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SPNS1,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,TUFM,YPEL3,ZG16 chr16 28413504 28417783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3C,EIF3CL chr16 28413504 28417783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3C,EIF3CL chr16 28413504 28417792 Gain and loss Pancreatic cancer SNP array 17952125 EIF3C,EIF3CL chr16 28416082 29013720 LOH Normal High-resolution SNP genotyping 21211785 APOBR,ATP2A1,ATXN2L,CCDC101,CD19,CLN3,EIF3C,EIF3CL,IL27,LAT,LOC100289092,MIR4517,MIR4721,NFATC2IP,NUPR1,RABEP2,SH2B1,SPNS1,SULT1A1,SULT1A2,TUFM chr16 2841747 2854335 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS41 chr16 28418184 28425656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3C chr16 28418184 28425656 Gain and loss Pancreatic cancer SNP array 17952125 EIF3C chr16 28418184 28425656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3C chr16 2842729 2848172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2842729 2848172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2842733 2848158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 2842878 2854183 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS41 chr16 28456162 28457996 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 28456163 28457831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28456163 28457996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28456163 28457996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2846391 2856578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS41 chr16 28472603 28494816 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CLN3 chr16 28472758 28510610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOBR,CLN3 chr16 28472758 28510610 Gain and loss Pancreatic cancer SNP array 17952125 APOBR,CLN3 chr16 28472758 28510610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOBR,CLN3 chr16 28477425 28494816 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CLN3 chr16 28508001 28529500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOBR,IL27 chr16 28510767 28528826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL27 chr16 28510767 28528826 Gain and loss Pancreatic cancer SNP array 17952125 IL27 chr16 28510767 28528826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL27 chr16 28514267 28527172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL27 chr16 28516708 28538982 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IL27 chr16 28518727 28528532 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 28518727 28528532 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 28519207 31440323 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 ALDOA,ASPHD1,ATP2A1,ATXN2L,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CCDC101,CD19,CD2BP2,CDIPT,CORO1A,COX6A2,CTF1,DCTPP1,DOC2A,EIF3C,EIF3CL,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIF22,LAT,LOC100289092,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4517,MIR4518,MIR4519,MIR4721,MIR762,MVP,MYLPF,NFATC2IP,NUPR1,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RNF40,RRN3P2,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,TRIM72,TUFM,VKORC1,YPEL3,ZG16,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 28521014 28526749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 28522411 28538392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 28523171 28529968 Gain Normal 244K array 17666407 NOT_FOUND chr16 28524404 28542375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28524404 28542375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28524418 28542367 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 28524419 28542367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28529501 28560000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NUPR1 chr16 2855886 2857570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 28560001 28719500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC101,EIF3C,SULT1A1,SULT1A2 chr16 28563412 28577452 Gain and loss Pancreatic cancer SNP array 17952125 CCDC101 chr16 28563412 28577452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC101 chr16 28569859 28715781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC101,EIF3C,SULT1A1,SULT1A2 chr16 28587048 28670623 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CCDC101,SULT1A1,SULT1A2 chr16 28590949 28751472 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CCDC101,EIF3C,EIF3CL,SULT1A1,SULT1A2 chr16 28590949 28751472 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC101,EIF3C,EIF3CL,SULT1A1,SULT1A2 chr16 28616917 28634866 Copy number Breast cancer API 2000/Qtrap mass spectrometry system 17947222 SULT1A1 chr16 28618738 28628417 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SULT1A1 chr16 28618998 28620433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SULT1A1 chr16 28618998 28620433 Gain and loss Pancreatic cancer SNP array 17952125 SULT1A1 chr16 28618998 28620433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SULT1A1 chr16 28630283 28654549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SULT1A1 chr16 28630285 28654535 Gain and loss Pancreatic cancer SNP array 17952125 SULT1A1 chr16 28677526 28691577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28677526 28691577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28700000 28900000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 ATP2A1,ATXN2L,EIF3C,EIF3CL,LOC100289092,MIR4721,SH2B1,TUFM chr16 28719501 28764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EIF3C,EIF3CL chr16 28731428 30134444 Deletion Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 ALDOA,ASPHD1,ATP2A1,ATXN2L,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CD19,CDIPT,DOC2A,EIF3C,EIF3CL,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LAT,LOC100289092,LOC388242,LOC440354,LOC440356,LOC606724,LOC613038,MAPK3,MAZ,MIR4517,MIR4721,MVP,NFATC2IP,PPP4C,PRRT2,QPRT,RABEP2,RRN3P2,SEZ6L2,SH2B1,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SPNS1,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,TUFM,YPEL3,ZG16 chr16 2873215 2889359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZG16B chr16 2873215 2889359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZG16B chr16 28732295 28952218 Copy number Rett syndrome References 21593744 ATP2A1,ATXN2L,CD19,EIF3C,EIF3CL,LOC100289092,MIR4721,RABEP2,SH2B1,TUFM chr16 28732295 28952218 Duplication Rett syndrome References 21593744 ATP2A1,ATXN2L,CD19,EIF3C,EIF3CL,LOC100289092,MIR4721,RABEP2,SH2B1,TUFM chr16 2873319 2889356 Gain and loss Pancreatic cancer SNP array 17952125 ZG16B chr16 28741857 28756057 Gain and loss Pancreatic cancer SNP array 17952125 EIF3C,EIF3CL chr16 28741915 28756057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3C,EIF3CL chr16 28741915 28756057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3C,EIF3CL chr16 28745016 28950951 Loss Autism - 20841430 ATP2A1,ATXN2L,CD19,EIF3C,EIF3CL,LOC100289092,MIR4721,RABEP2,SH2B1,TUFM chr16 28761615 28765144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28761615 28765144 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28761615 28765144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28764501 28766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 28765511 28793027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28766001 29046500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2A1,ATXN2L,CD19,LAT,LOC100289092,MIR4517,MIR4721,NFATC2IP,RABEP2,SH2B1,SPNS1,TUFM chr16 28782725 28793027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28782725 28793027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 62879381 62879926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28797304 28823331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28797304 28823331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28797310 28823331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 288001 348000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGDIG,AXIN1,ITFG3,PDIA2,RGS11 chr16 28800302 28800375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28823243 28844033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN2L chr16 28823243 28844033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN2L chr16 28823244 28844574 Gain and loss Pancreatic cancer SNP array 17952125 ATXN2L chr16 28847323 29824957 LOH Normal High-resolution SNP genotyping 21211785 ATP2A1,ATXN2L,BOLA2,BOLA2B,C16orf54,CD19,KIF22,LAT,LOC100289092,LOC388242,LOC440354,LOC606724,LOC613038,MAZ,MIR4517,MIR4721,NFATC2IP,PRRT2,QPRT,RABEP2,RRN3P2,SH2B1,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SPNS1,SULT1A3,SULT1A4,TUFM,ZG16 chr16 2885001 2889000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 28850761 28858162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4721,TUFM chr16 28850761 28858162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4721,TUFM chr16 28850779 28858164 Gain and loss Pancreatic cancer SNP array 17952125 MIR4721,TUFM chr16 28869819 28885266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH2B1 chr16 28869819 28885266 Gain and loss Pancreatic cancer SNP array 17952125 SH2B1 chr16 28869819 28885266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH2B1 chr16 28882516 28892650 Loss Normal 244K array 17666407 ATP2A1,LOC100289092,SH2B1 chr16 2889001 2939000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLYWCH2,PRSS22,PRSS30P chr16 28893581 28903364 Gain and loss Pancreatic cancer SNP array 17952125 ATP2A1 chr16 28893623 28903364 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2A1 chr16 28893623 28903364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2A1 chr16 28903648 28909605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2A1 chr16 28903648 28909605 Gain and loss Pancreatic cancer SNP array 17952125 ATP2A1 chr16 28903648 28909605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2A1 chr16 28912820 28913256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP2A1 chr16 2892849 2892956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 2892855 2892956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28944132 28944272 Gain Normal 244K array 17666407 CD19 chr16 28946577 28946831 Gain and loss Pancreatic cancer SNP array 17952125 CD19 chr16 28946577 28946831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD19 chr16 28956656 28971295 Gain and loss Pancreatic cancer SNP array 17952125 MIR4517,NFATC2IP chr16 28957477 28970549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4517,NFATC2IP chr16 28957477 28970549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4517,NFATC2IP chr16 28985078 28985180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 28985078 28985180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 28987739 29040752 Gain and loss Pancreatic cancer SNP array 17952125 LAT,SPNS1 chr16 28993816 29035537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAT,SPNS1 chr16 28993829 29003535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAT,SPNS1 chr16 28995630 28995694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPNS1 chr16 2901981 2941201 Gain and loss Pancreatic cancer SNP array 17952125 FLYWCH2,PRSS22 chr16 2901981 2941209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLYWCH2,PRSS22 chr16 2901981 2941209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLYWCH2,PRSS22 chr16 29039137 29041549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 29039141 29041358 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 29046501 29258500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RRN3P2 chr1 62907387 62907487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP1 chr16 29089668 29094062 Gain Normal 244K array 17666407 RRN3P2 chr16 29115889 29116158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RRN3P2 chr16 2912660 2913231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29132634 29165974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 29146890 31166396 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAL,KAT8,KCTD13,KIF22,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4518,MIR4519,MIR762,MVP,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,QPRT,RNF40,SEPHS2,SEPT1,SETD1A,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,VKORC1,YPEL3,ZG16,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29167674 29168140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29167674 29168140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2917664 2917735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 2917664 2917735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29177063 29830000 LOH Normal High-resolution SNP genotyping 21211785 BOLA2,BOLA2B,C16orf53,C16orf54,KIF22,LOC388242,LOC440354,LOC606724,LOC613038,MAZ,PRRT2,QPRT,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SULT1A3,SULT1A4,ZG16 chr16 29181449 29609853 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 BOLA2,BOLA2B,LOC388242,LOC440354,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SULT1A3,SULT1A4 chr16 29181449 29609853 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BOLA2,BOLA2B,LOC388242,LOC440354,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SULT1A3,SULT1A4 chr16 29182528 30347981 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29182528 30353518 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29198804 30876810 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,DCTPP1,DOC2A,FAM57B,FBRS,GDPD3,HIRIP3,INO80E,ITGAL,KCTD13,KIF22,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4518,MVP,MYLPF,PHKG2,PPP4C,PRR14,PRRT2,QPRT,RNF40,SEPHS2,SEPT1,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SRCAP,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,YPEL3,ZG16,ZNF48,ZNF629,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29210161 29250122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29210161 29293095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29210161 29293095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29211478 31166396 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAL,KAT8,KCTD13,KIF22,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4518,MIR4519,MIR762,MVP,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,QPRT,RNF40,SEPHS2,SEPT1,SETD1A,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,VKORC1,YPEL3,ZG16,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29211639 29256380 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 29231219 29247446 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 62924398 62924736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOCK7 chr1 62924408 62924746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOCK7 chr16 29248712 29609853 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BOLA2,BOLA2B,LOC388242,LOC440354,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SULT1A3,SULT1A4 chr16 29258501 29532000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BOLA2,BOLA2B,LOC388242,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SULT1A3,SULT1A4 chr1 62925932 62926940 Loss Autism 1M Ailent CGH whole-genome array 21865298 DOCK7 chr16 29269568 29603784 Gain and loss Pancreatic cancer SNP array 17952125 BOLA2,BOLA2B,LOC388242,LOC440354,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SULT1A3,SULT1A4 chr16 29275084 29818197 LOH Normal High-resolution SNP genotyping 21211785 BOLA2,BOLA2B,C16orf54,KIF22,LOC388242,LOC440354,LOC606724,LOC613038,MAZ,QPRT,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SULT1A3,SULT1A4,ZG16 chr16 29275084 29932358 LOH Normal High-resolution SNP genotyping 21211785 ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,CDIPT,KCTD13,KIF22,LOC388242,LOC440354,LOC440356,LOC606724,LOC613038,MAZ,MVP,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SULT1A3,SULT1A4,ZG16 chr16 29300304 29424454 Gain and loss Pancreatic cancer SNP array 17952125 SNX29P2 chr16 29303918 29317246 Gain and loss Pancreatic cancer SNP array 17952125 SNX29P2 chr16 29309814 29345840 Loss Normal Birdsuite, version 1.5.2 22087296 SNX29P2 chr16 29320004 30085308 Loss Autism - 20841430 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440354,LOC440356,LOC606724,LOC613038,MAZ,MVP,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SULT1A3,SULT1A4,TAOK2,TMEM219,ZG16 chr1 62932441 62932523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOCK7 chr16 29341228 30841464 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,DCTPP1,DOC2A,FAM57B,FBRS,GDPD3,HIRIP3,INO80E,ITGAL,KCTD13,KIF22,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4518,MVP,MYLPF,PHKG2,PPP4C,PRR14,PRRT2,QPRT,RNF40,SEPHS2,SEPT1,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SRCAP,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,YPEL3,ZG16,ZNF48,ZNF629,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29341228 31173862 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAL,KAT8,KCTD13,KIF22,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4518,MIR4519,MIR762,MVP,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,QPRT,RNF40,SEPHS2,SEPT1,SETD1A,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SNX29P2,SPN,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,VKORC1,YPEL3,ZG16,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29346408 29477671 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BOLA2,BOLA2B,LOC388242,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SULT1A3,SULT1A4 chr16 29350831 30332522 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29356321 29356422 Gain and loss Pancreatic cancer SNP array 17952125 SNX29P2 chr16 29356321 29356422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29P2 chr16 29357274 30120928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440354,LOC440356,LOC606724,LOC613038,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29357727 29464031 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC606724,SNX29P2 chr16 29361070 29377846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29P2 chr16 29361070 29381764 Gain and loss Pancreatic cancer SNP array 17952125 SNX29P2 chr16 29361739 29513788 Gain and loss Pancreatic cancer SNP array 17952125 BOLA2,BOLA2B,LOC388242,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNX29P2,SULT1A3,SULT1A4 chr16 29365833 29373786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29P2 chr1 6293700 18251002 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AADACL3,AADACL4,ACOT7,ACTL8,AGMAT,AGTRAP,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF19,ATP13A2,C1orf126,C1orf127,C1orf158,C1orf200,C1orf64,CA6,CAMTA1,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC11,DNAJC16,DRAXIN,EFHD2,ENO1,ENO1-AS1,EPHA2,ERRFI1,ESPN,ESPNP,EXOSC10,FAM131C,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,GPR153,GPR157,H6PD,HES2,HES3,HNRNPCL1,HSPB7,ICMT,KAZN,KIAA2013,KIF1B,KLHL21,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFAP2,MFN2,MIIP,MIR34A,MIR3675,MIR4252,MIR4632,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,NBPF1,NECAP2,NMNAT1,NOL9,NPPA,NPPA-AS1,NPPB,PADI1,PADI2,PADI3,PADI4,PADI6,PARK7,PDPN,PER3,PEX14,PGD,PHF13,PIK3CD,PLEKHG5,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RCC2,RERE,RSC1A1,RSG1,SDHB,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SZRD1,TARDBP,TAS1R1,THAP3,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,UBE4B,UBIAD1,UQCRHL,UTS2,VAMP3,VPS13D,ZBTB17,ZBTB48 chr16 29373370 29383784 Gain and loss Pancreatic cancer SNP array 17952125 SNX29P2 chr16 29373376 29377041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29P2 chr16 29373902 29383801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX29P2 chr16 29373902 29383801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX29P2 chr16 2938218 2938866 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FLYWCH2 chr16 2939001 3018500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLYWCH1,FLYWCH2,KREMEN2 chr16 29402511 29406470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29402511 29406470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29425212 30099408 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440354,LOC440356,LOC606724,LOC613038,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,ZG16 chr16 29458086 29458187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29458086 29458187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29463841 29467584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BOLA2,BOLA2B,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4 chr16 29472581 29513788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388242,LOC613038,SLX1A-SULT1A3,SLX1B-SULT1A4,SULT1A3,SULT1A4 chr16 2948271 2948371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLYWCH2 chr16 2949982 2950348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 29500000 30090000 Copy number Cognitive impairment - 21505072 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TMEM219,ZG16 chr16 29500000 30100000 Copy number Cognitive impairment - 21505072 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,ZG16 chr16 29500000 30108000 Loss Autism Array CGH 18522746 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29500000 30200000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29500284 30098069 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,ZG16 chr16 29500313 29559994 Loss Normal 244K array 17666407 LOC440354 chr16 29502984 30107398 Gain Autism Exome sequencing and CGH 22495309 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29502984 30127026 Gain Autism qPCR 20531469 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29502984 30127026 Loss Autism qPCR, Affy 500K(Marshall et al.2008), Agilent 1M 20531469 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29502984 30210849 Gain Autism qPCR, Affy 500K(Marshall et al.2008) 20531469 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,LOC606724,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29531923 29532462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29531923 29532462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29531923 29532462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29532001 29534000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 29534001 29723500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC440354,QPRT,SLC7A5P1,SPN chr16 2953509 34853952 Gain Normal Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABAT,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATXN2L,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf62,C16orf71,C16orf72,C16orf82,C16orf88,C16orf89,C16orf90,C16orf92,C16orf93,C16orf96,CACNG3,CARHSP1,CCDC101,CCDC64B,CCP110,CD19,CD2BP2,CDIPT,CDR2,CHP2,CIITA,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DEXI,DNAH3,DNAJA3,DNASE1,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,EMP2,ERCC4,ERI2,ERN2,FAM100A,FAM18A,FAM57B,FAM86A,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLYWCH1,FOPNL,FUS,GDE1,GDPD3,GGA2,GLIS2,GLYR1,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HS3ST2,HS3ST4,HSD3B7,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,KAT8,KCTD13,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00273,LINC00514,LITAF,LOC100128770,LOC100130700,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC729264,LOC730183,LOC81691,LYRM1,MAPK3,MAZ,MEFV,METTL22,METTL9,MGC3771,MGRN1,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4517,MIR4518,MIR4519,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR762,MKL2,MMP25,MPV17L,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NDE1,NDUFAB1,NFATC2IP,NLRC3,NMRAL1,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,NUBP1,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDILT,PDXDC1,PDZD9,PHKG2,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RBFOX1,RMI2,RNF40,RNU6-76,ROGDI,RPS15A,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNN,SNORA30,SNX29,SNX29P1,SNX29P2,SOCS1,SPN,SPNS1,SRCAP,SRL,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYT17,TAOK2,TBC1D10B,TBX6,TEKT5,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM219,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRAP1,TRIM72,TUFM,TXNDC11,UBE2MP1,UBFD1,UBN1,UMOD,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 29537496 29555243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440354 chr16 29537631 29555157 Gain and loss Pancreatic cancer SNP array 17952125 LOC440354 chr16 2954217 2958382 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 2954217 2958382 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 2954217 2958382 Gain or loss Cancer - 20668451 NOT_FOUND chr16 2954217 2958382 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 2954217 2958382 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 2954217 2958382 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 2954217 2958382 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 2954218 2958381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 2954218 2958381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 2954218 2958381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29550000 30200000 Deletion or duplication Normal - 21701786 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29550781 31443695 Gain Prostate cancer Array CGH 18632612 ALDOA,ASPHD1,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,COX6A2,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KCTD13,KIF22,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4518,MIR4519,MIR762,MVP,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RNF40,SEPHS2,SEPT1,SETD1A,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SPN,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,TRIM72,VKORC1,YPEL3,ZG16,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29554843 30001681 Loss Autism - 20841430 ASPHD1,C16orf53,C16orf54,CDIPT,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TMEM219,ZG16 chr16 29554843 30037994 Loss Autism - 20841430 ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TMEM219,ZG16 chr16 29554843 30195224 Loss Autism qPCR, Affy 500K(Marshall et al.2008), Agilent 1M 20531469 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29554844 30085308 Deletion Autism quantitative PCR 19404257 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TMEM219,ZG16 chr16 29554844 30085308 Duplication Autism quantitative PCR 19404257 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TMEM219,ZG16 chr16 29557497 30107356 Loss Developmental delay affymetrix genechip 500K/SNP 6.70 array 21147756 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29559251 30101408 Microdeletions Autism high-density single nucleotide polymorphism arrays 19843651 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,ZG16 chr16 29559251 30101408 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,ZG16 chr16 29560500 30104842 Microdeletions Paroxysmal kinesigenic dyskinesia CGH 21940615 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29563365 30085308 Loss Autism - 20841430 ALDOA,ASPHD1,C16orf53,C16orf54,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,MAZ,MVP,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SPN,TAOK2,TMEM219,ZG16 chr16 29569647 30209382 Duplication Schizophrenia NimbleGen HD2 platform 21346763 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC440354,LOC440356,LOC606724,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29575701 29803400 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf54,KIF22,LOC440354,QPRT,SLC7A5P1,SPN,ZG16 chr16 29581801 29589312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29581801 29589312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29581801 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,105 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29581885 29584338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 295906 69965031 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATP6V0D1,ATXN2L,AXIN1,B3GNT9,BAIAP3,BBS2,BCAR4,BCKDK,BCL7C,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf11,C16orf13,C16orf45,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CA7,CACNA1H,CACNG3,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CEMP1,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CHP2,CHTF18,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,COG7,COG8,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRL,CX3CL1,CYB5B,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX28,DECR2,DEXI,DKFZP434H168,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,ESRP2,EXOC3L1,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FHOD1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FTO,FUS,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS3,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HAS3,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD11B2,HSD3B7,HSF4,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,IRX3,IRX5,IRX6,ITFG1,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KATNB1,KCTD13,KCTD19,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIAA0895L,KIF22,KIFC3,KREMEN2,LAT,LCAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC283856,LOC283867,LOC283914,LOC388242,LOC388276,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR138-2,MIR1538,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP15,MMP2,MMP25,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTRNR2L4,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NETO2,NFAT5,NFATC2IP,NFATC3,NHLRC4,NIP7,NKD1,NLRC3,NLRC5,NME3,NME4,NMRAL1,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPW,NQO1,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDF,PDIA2,PDILT,PDP2,PDPK1,PDXDC1,PDZD9,PGP,PHKB,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLA2G15,PLEKHG4,PLK1,PLLP,PMM2,POLR2C,POLR3E,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RGS11,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SMPD3,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA78,SNORD60,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TERF2,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM186,TMEM204,TMEM208,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP31,USP7,VASN,VKORC1,VPS35,VPS4A,VWA3A,WDR24,WDR90,WFIKKN1,WWP2,XPO6,XYLT1,YPEL3,ZC3H7A,ZDHHC1,ZFP90,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 2959343 2963484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLYWCH1 chr16 2959343 2963484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLYWCH1 chr16 2959560 2963484 Gain and loss Pancreatic cancer SNP array 17952125 FLYWCH1 chr16 29597938 29616806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29597938 29616806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29597938 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,106 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29597942 29616806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 62961827 63042844 Gain and loss Pancreatic cancer SNP array 17952125 DOCK7 chr16 2962792 2970475 Gain or loss Breast cancer - 20668451 FLYWCH1 chr16 2962792 2970475 Gain or loss Cancer - 20668451 FLYWCH1 chr16 2962792 2970475 Gain or loss Lung cancer - 20668451 FLYWCH1 chr16 2962792 2970475 Gain or loss Ovarian cancer - 20668451 FLYWCH1 chr16 2962792 2970475 Gain or loss Pancreas cancer - 20668451 FLYWCH1 chr16 2962792 2970475 Gain or loss Prostate cancer - 20668451 FLYWCH1 chr16 2962793 2970506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLYWCH1 chr16 2962793 2970506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLYWCH1 chr16 2962795 2970475 Gain and loss Pancreatic cancer SNP array 17952125 FLYWCH1 chr16 29649904 29650226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29649929 29650226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29649990 29650226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29661289 29664828 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29661293 29664841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29661293 29664841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29661293 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,107 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SPN,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29697104 29700597 Gain and loss Pancreatic cancer SNP array 17952125 QPRT chr16 29697112 29700597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 QPRT chr16 29697112 29700597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QPRT chr16 29697112 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,108 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,QPRT,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29698287 31166396 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAL,KAT8,KCTD13,KIF22,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4518,MIR4519,MIR762,MVP,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,QPRT,RNF40,SEPHS2,SEPT1,SETD1A,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,VKORC1,YPEL3,ZG16,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29709559 29724207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29709559 29724207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29709559 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,109 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29715361 29928378 Copy number Normal Quantitative Real-Time PCR 17666543 ASPHD1,C16orf53,C16orf54,CDIPT,KCTD13,KIF22,LOC440356,MAZ,MVP,PRRT2,SEZ6L2,ZG16 chr16 29723501 29735500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 29725355 29730005 Copy number Gastric cancer Human cDNA microarrays 17229543 NOT_FOUND chr16 29725356 29730003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29725356 29730003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29725356 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,110 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29725460 29729206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29730910 29734702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29730910 29734702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29730910 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,111 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29731020 29734702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29735028 29741317 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr16 29735029 29741315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29735029 29741315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29735029 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,112 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29735333 29738935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29735501 29904000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf53,C16orf54,CDIPT,KIF22,LOC440356,MAZ,MVP,PRRT2,SEZ6L2,ZG16 chr16 29739281 29766843 Gain and loss Pancreatic cancer SNP array 17952125 C16orf54 chr16 29739289 29766854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf54 chr16 29739289 29766854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf54 chr16 29739289 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,113 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29765264 29766138 Gain Normal 244K array 17666407 NOT_FOUND chr16 29769411 31162689 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAL,KAT8,KCTD13,KIF22,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MAZ,MIR4518,MIR4519,MIR762,MVP,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,VKORC1,YPEL3,ZG16,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29777179 29782079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29777179 29782079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29777179 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,114 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29777180 29782556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29782656 29786869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29782656 29786869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29782656 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,115 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 29789983 29818074 Gain and loss Pancreatic cancer SNP array 17952125 KIF22,MAZ,ZG16 chr16 29790332 29818074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF22,MAZ,ZG16 chr16 29790332 29818074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF22,MAZ,ZG16 chr16 29790332 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,116 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3,ZG16 chr16 2979152 2979252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLYWCH1 chr16 2979794 2979894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLYWCH1 chr16 2979963 2985462 Gain and loss Pancreatic cancer SNP array 17952125 FLYWCH1 chr16 29803401 30056400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASPHD1,C16orf53,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,KIF22,LOC440356,MAZ,MVP,PRRT2,SEZ6L2,TAOK2,TMEM219 chr1 62980541 62980641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK7 chr16 29819487 29820360 Gain Normal 244K array 17666407 MAZ chr16 29819647 29824878 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MAZ,PRRT2 chr16 29819648 29824876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAZ,PRRT2 chr16 29819648 29824876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAZ,PRRT2 chr16 29819648 29838679 Gain and loss Pancreatic cancer SNP array 17952125 C16orf53,MAZ,MVP,PRRT2 chr16 29819648 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,117 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MAZ,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29821936 29821997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAZ chr16 29825164 29845046 Gain and loss Pancreatic cancer SNP array 17952125 C16orf53,MVP,PRRT2 chr16 29825166 29845046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf53,MVP,PRRT2 chr16 29825166 29845046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf53,MVP,PRRT2 chr16 29825166 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,118 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,LOC388242,LOC440356,LOC606724,LOC613037,LOC613038,MAPK3,MVP,PPP4C,PRRT2,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29830000 31293275 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf53,C16orf92,C16orf93,CD2BP2,CDIPT,CORO1A,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAL,ITGAM,KAT8,KCTD13,LOC100862671,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MVP,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,TRIM72,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29830750 30364674 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf53,C16orf92,CD2BP2,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,LOC388242,LOC440354,LOC440356,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MVP,PPP4C,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr1 62983503 64917453 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ALG6,ANGPTL3,ATG4C,DLEU2L,DOCK7,EFCAB7,FOXD3,ITGB3BP,LINC00466,PGM1,ROR1,UBE2U chr16 29848778 29848962 Gain and loss Pancreatic cancer SNP array 17952125 MVP chr16 29848778 29848962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MVP chr16 29859707 29891872 Gain and loss Pancreatic cancer SNP array 17952125 CDIPT,LOC440356,SEZ6L2 chr16 29880852 29891874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEZ6L2 chr16 29880852 29891874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEZ6L2 chr16 29880852 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,119 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29892723 29911082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEZ6L2 chr16 29892723 29911082 Gain and loss Pancreatic cancer SNP array 17952125 SEZ6L2 chr16 29892723 29911082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEZ6L2 chr16 29892723 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,120 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SEZ6L2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29904001 30043000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASPHD1,C16orf92,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,SEZ6L2,TAOK2,TMEM219 chr16 29911818 29914888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASPHD1 chr16 29911818 29914888 Gain and loss Pancreatic cancer SNP array 17952125 ASPHD1 chr16 29911818 29914888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASPHD1 chr16 29911818 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,121 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29915032 29924613 Gain and loss Pancreatic cancer SNP array 17952125 ASPHD1,KCTD13 chr16 29915060 29924596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASPHD1,KCTD13 chr16 29915060 29924596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASPHD1,KCTD13 chr16 29915060 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,122 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,ASPHD1,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29924338 29930243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCTD13 chr16 29924338 29930243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCTD13 chr16 29924338 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,123 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29924637 29931126 Gain and loss Pancreatic cancer SNP array 17952125 KCTD13 chr16 29927855 31301486 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf92,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAL,ITGAM,KAT8,KCTD13,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TAOK2,TBC1D10B,TBX6,TMEM219,TRIM72,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 29942156 29943524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29942156 29943524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29942156 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,124 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29943250 29949638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 29943250 29949687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29943250 29949687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 29943250 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,125 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29961204 29975150 Deletion Glycogen storage disease Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 TMEM219 chr16 29971945 29989242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAOK2,TMEM219 chr16 29971945 29989242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAOK2,TMEM219 chr16 29971945 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,126 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29971973 29989236 Gain and loss Pancreatic cancer SNP array 17952125 TAOK2,TMEM219 chr16 29981456 30222412 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,LOC388242,LOC606724,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29981456 30290781 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29981456 30290781 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,TMEM219,YPEL3 chr16 29985276 29985354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAOK2 chr16 29994839 30004193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIRIP3,TAOK2 chr16 29994839 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,127 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TAOK2,TBX6,YPEL3 chr16 29994841 30004196 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 HIRIP3,TAOK2 chr16 29994877 30004178 Gain and loss Pancreatic cancer SNP array 17952125 HIRIP3,TAOK2 chr16 29995314 29995401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAOK2 chr1 6300000 124300000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACOT11,ACOT7,ACTG1P4,ACTL8,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP85,CEPT1,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOL9,NOTCH2,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr1 6300000 124300000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACOT11,ACOT7,ACTG1P4,ACTL8,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGTRAP,AHCYL1,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf162,C1orf168,C1orf172,C1orf173,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf52,C1orf63,C1orf64,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC28B,CCDC30,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP85,CEPT1,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMBP1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCGR1B,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GMEB1,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2BA,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100129924,LOC100130557,LOC100131060,LOC100131564,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MOV10,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOL9,NOTCH2,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHG5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PRDX1,PRKAA2,PRKACB,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF220,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF1B,TNFRSF25,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC39A,TTC4,TTF2,TTLL7,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr16 30003809 31173862 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf92,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAL,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30003809 31499021 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,ARMC5,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf92,C16orf93,CD2BP2,CORO1A,COX6A2,CTF1,DCTPP1,DOC2A,FAM57B,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HIRIP3,HSD3B7,INO80E,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLC5A2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,TGFB1I1,TRIM72,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 30004583 30010709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIRIP3,INO80E chr16 30004583 30010709 Gain and loss Pancreatic cancer SNP array 17952125 HIRIP3,INO80E chr16 30004583 30010709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIRIP3,INO80E chr16 30004583 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,128 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBX6,YPEL3 chr16 30008266 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,129 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,INO80E,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBX6,YPEL3 chr16 30008266 30504511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDOA,BOLA2,BOLA2B,C16orf92,CD2BP2,CORO1A,DCTPP1,DOC2A,FAM57B,GDPD3,INO80E,ITGAL,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MYLPF,PPP4C,SEPHS2,SEPT1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBC1D10B,TBX6,YPEL3,ZNF48,ZNF771 chr16 30008266 30504511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDOA,BOLA2,BOLA2B,C16orf92,CD2BP2,CORO1A,DCTPP1,DOC2A,FAM57B,GDPD3,INO80E,ITGAL,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MYLPF,PPP4C,SEPHS2,SEPT1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBC1D10B,TBX6,YPEL3,ZNF48,ZNF771 chr16 30011136 30015038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INO80E chr16 30011136 30015038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80E chr16 30011136 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,130 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,DOC2A,FAM57B,GDPD3,INO80E,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBX6,YPEL3 chr16 30011141 30014437 Gain and loss Pancreatic cancer SNP array 17952125 INO80E chr16 30016521 30016600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INO80E chr16 30023632 30032678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30023632 30032678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30023632 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,131 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,FAM57B,GDPD3,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBX6,YPEL3 chr16 30023633 30032379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3002458 3004507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30026048 31173862 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf92,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,FAM57B,FBRS,FBXL19,FBXL19-AS1,GDPD3,HSD3B7,ITGAL,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 3003130 3004507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3003130 3004507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30032926 30042131 Gain or loss Breast cancer - 20668451 C16orf92,FAM57B chr16 30032926 30042131 Gain or loss Cancer - 20668451 C16orf92,FAM57B chr16 30032926 30042131 Gain or loss Lung cancer - 20668451 C16orf92,FAM57B chr16 30032926 30042131 Gain or loss Ovarian cancer - 20668451 C16orf92,FAM57B chr16 30032926 30042131 Gain or loss Pancreas cancer - 20668451 C16orf92,FAM57B chr16 30032926 30042131 Gain or loss Prostate cancer - 20668451 C16orf92,FAM57B chr16 30032926 30042131 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 C16orf92,FAM57B chr16 30032928 30042042 Gain and loss Pancreatic cancer SNP array 17952125 C16orf92,FAM57B chr16 30032928 30042131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf92,FAM57B chr16 30032928 30042131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf92,FAM57B chr16 30032928 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,132 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 ALDOA,BOLA2,BOLA2B,C16orf92,CORO1A,FAM57B,GDPD3,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBX6,YPEL3 chr16 30033213 30067116 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALDOA,C16orf92,FAM57B chr16 30043001 30101500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDOA,PPP4C,TBX6 chr1 6300460 6300560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 3004714 3010073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3004714 3010073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3004715 3008187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30051762 31293275 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,TRIM72,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30056401 30486500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDOA,BOLA2,BOLA2B,CD2BP2,CORO1A,DCTPP1,GDPD3,ITGAL,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MYLPF,PPP4C,SEPHS2,SEPT1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBC1D10B,TBX6,YPEL3,ZNF48,ZNF771 chr16 30059615 31166396 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,GDPD3,HSD3B7,ITGAL,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30059615 31173862 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,GDPD3,HSD3B7,ITGAL,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30059615 31179527 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,GDPD3,HSD3B7,ITGAL,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30063032 30290781 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALDOA,BOLA2,BOLA2B,CORO1A,GDPD3,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBX6,YPEL3 chr16 30067610 31173862 LOH Normal High-resolution SNP genotyping 21211785 ALDOA,BCKDK,BCL7C,BOLA2,BOLA2B,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,GDPD3,HSD3B7,ITGAL,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30088986 31179527 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,BOLA2,BOLA2B,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,GDPD3,HSD3B7,ITGAL,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PPP4C,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30097518 31299715 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,BOLA2,BOLA2B,C16orf93,CD2BP2,CORO1A,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,GDPD3,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,LOC730183,MAPK3,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TBX6,TRIM72,VKORC1,YPEL3,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30101501 30108750 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBX6,YPEL3 chr16 30101685 30102224 Loss or gain Normal 244K array 17666407 TBX6 chr16 30102415 30107897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBX6,YPEL3 chr16 30102415 30107897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX6,YPEL3 chr16 30102427 30107897 Gain and loss Pancreatic cancer SNP array 17952125 TBX6,YPEL3 chr16 30102427 30254369 Indel autism microarray-based comparative genomic hybridization (aCGH),BAC microarray,133 K-feature whole-genome microarray,fluorescence in situ hybridization (FISH) 21731881 BOLA2,BOLA2B,CORO1A,GDPD3,LOC388242,LOC606724,LOC613037,LOC613038,MAPK3,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBX6,YPEL3 chr16 3010343 3012382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3010361 3012382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3010361 3012382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30105758 30113128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YPEL3 chr16 30105758 30113128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YPEL3 chr16 30108506 30108595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 30108751 30675000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BOLA2,BOLA2B,CD2BP2,CORO1A,DCTPP1,GDPD3,ITGAL,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MIR4518,MYLPF,PRR14,SEPHS2,SEPT1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBC1D10B,ZNF48,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30111758 30113128 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30112712 30123128 Gain and loss Pancreatic cancer SNP array 17952125 GDPD3 chr16 30112718 30116383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDPD3 chr16 30112718 30116383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDPD3 chr16 30113244 30123150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDPD3 chr16 30113244 30123150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDPD3 chr16 3012627 3014288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KREMEN2 chr16 3012627 3014288 Gain and loss Pancreatic cancer SNP array 17952125 KREMEN2 chr16 3012627 3014288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KREMEN2 chr16 30134444 30419276 Loss Normal Birdsuite, version 1.5.2 22087296 BOLA2,BOLA2B,CD2BP2,CORO1A,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,MYLPF,SEPT1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBC1D10B,ZNF48,ZNF771 chr16 3014066 3017751 Gain and loss Pancreatic cancer SNP array 17952125 KREMEN2 chr16 3014094 3017751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KREMEN2 chr16 3014094 3017751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KREMEN2 chr16 30141850 30164433 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr16 30141851 30164435 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3015859 3016000 Loss Autism 1M Ailent CGH whole-genome array 21865298 KREMEN2 chr16 3017685 3025498 Gain and loss Pancreatic cancer SNP array 17952125 KREMEN2,PAQR4,PKMYT1 chr16 3017869 3025543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KREMEN2,PAQR4,PKMYT1 chr16 3017869 3025543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KREMEN2,PAQR4,PKMYT1 chr16 3018501 3134000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC64B,CLDN6,CLDN9,HCFC1R1,IL32,LINC00514,LOC100128770,MMP25,PAQR4,PKMYT1,THOC6,TNFRSF12A chr16 30186415 30254196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BOLA2,BOLA2B,CORO1A,LOC388242,LOC606724,LOC613037,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 chr16 30186415 30254196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BOLA2,BOLA2B,CORO1A,LOC388242,LOC606724,LOC613037,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 chr16 30202839 30219562 Gain and loss Pancreatic cancer SNP array 17952125 BOLA2,BOLA2B,LOC388242,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 chr16 30202839 30219562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BOLA2,BOLA2B,LOC388242,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 chr16 30203846 30254196 Gain and loss Pancreatic cancer SNP array 17952125 BOLA2,BOLA2B,LOC388242,LOC613037,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 chr16 30211516 31554569 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,BCKDK,BCL7C,C16orf58,C16orf93,CD2BP2,COX6A2,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,LOC100862671,LOC388242,LOC440354,LOC595101,LOC613037,LOC613038,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLC5A2,SLX1A-SULT1A3,SLX1B-SULT1A4,SNORA30,SRCAP,STX1B,STX4,SULT1A3,SULT1A4,TBC1D10B,TGFB1I1,TRIM72,VKORC1,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr1 63022394 63103772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANGPTL3,DOCK7 chr1 63022394 63103772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANGPTL3,DOCK7 chr16 3022483 3029132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAQR4,PKMYT1 chr16 30271548 31188405 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CD2BP2,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC440354,LOC595101,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SNORA30,SRCAP,STX1B,STX4,TBC1D10B,VKORC1,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30271670 30274128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30271670 30274128 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30271670 30274128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30275924 30289086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440354,LOC595101 chr16 30275924 30289086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440354,LOC595101 chr16 30275926 30288446 Gain and loss Pancreatic cancer SNP array 17952125 LOC440354,LOC595101 chr16 30289504 30290234 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC440354,LOC595101 chr16 30293624 30296811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440354,LOC595101 chr16 30293624 30296811 Gain and loss Pancreatic cancer SNP array 17952125 LOC440354,LOC595101 chr16 30293624 30296811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440354,LOC595101 chr16 30296958 30301672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440354,LOC595101 chr16 30296958 30301672 Gain and loss Pancreatic cancer SNP array 17952125 LOC440354,LOC595101 chr16 30296958 30301672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440354,LOC595101 chr16 30299313 30317767 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC440354,LOC595101 chr16 30309583 31173862 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CD2BP2,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC440354,LOC595101,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SEPT1,SETD1A,SNORA30,SRCAP,STX1B,STX4,TBC1D10B,VKORC1,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30314556 30318928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440354,LOC595101 chr16 30314556 30318928 Gain and loss Pancreatic cancer SNP array 17952125 LOC440354,LOC595101 chr16 30314556 30318928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440354,LOC595101 chr16 30316577 31313418 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CD2BP2,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC440354,LOC595101,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SNORA30,SRCAP,STX1B,STX4,TBC1D10B,TRIM72,VKORC1,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30326437 30337416 Gain and loss Pancreatic cancer SNP array 17952125 LOC595101 chr16 30326437 30338229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC595101 chr16 30326437 30338229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC595101 chr16 30331664 31365159 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CD2BP2,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC595101,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SNORA30,SRCAP,STX1B,STX4,TBC1D10B,TRIM72,VKORC1,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30338447 30338578 Gain and loss Pancreatic cancer SNP array 17952125 LOC595101 chr16 30338447 30338581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC595101 chr16 30342522 30348874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC595101 chr16 30342522 30348874 Gain and loss Pancreatic cancer SNP array 17952125 LOC595101 chr16 30342522 30348874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC595101 chr16 30346620 31946953 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,BCKDK,BCL7C,C16orf58,C16orf93,CD2BP2,COX6A2,CSDAP1,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KIAA0664L3,LOC100862671,LOC595101,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLC5A2,SNORA30,SRCAP,STX1B,STX4,TBC1D10B,TGFB1I1,TRIM72,VKORC1,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 30346620 32387770 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,BCKDK,BCL7C,C16orf58,C16orf93,CD2BP2,COX6A2,CSDAP1,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HERC2P4,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KIAA0664L3,LOC100862671,LOC390705,LOC595101,LOC729264,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLC5A2,SNORA30,SRCAP,STX1B,STX4,TBC1D10B,TGFB1I1,TRIM72,VKORC1,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 30356951 30401822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD2BP2,MYLPF,SEPT1,TBC1D10B,ZNF48 chr16 30362453 30364687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD2BP2 chr16 30362453 30364687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD2BP2 chr16 30363203 30364549 Gain and loss Pancreatic cancer SNP array 17952125 CD2BP2 chr16 3036683 3050728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00514 chr16 3036683 3050728 Gain and loss Pancreatic cancer SNP array 17952125 LINC00514 chr16 3036683 3050728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00514 chr16 30372819 30372919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D10B chr16 30372821 30372919 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D10B chr16 30382147 31463336 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,COX6A2,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 30382147 32124539 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,BCKDK,BCL7C,C16orf58,C16orf93,COX6A2,CSDAP1,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KIAA0664L3,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,MYLPF,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLC5A2,SNORA30,SRCAP,STX1B,STX4,TGFB1I1,TRIM72,VKORC1,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 30390018 32124539 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,BCKDK,BCL7C,C16orf58,C16orf93,COX6A2,CSDAP1,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KIAA0664L3,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SEPT1,SETD1A,SLC5A2,SNORA30,SRCAP,STX1B,STX4,TGFB1I1,TRIM72,VKORC1,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 30390409 30390525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT1,ZNF48 chr16 30390445 30390522 Gain and loss Pancreatic cancer SNP array 17952125 SEPT1,ZNF48 chr16 30390445 30390522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT1,ZNF48 chr16 30391483 30442007 Copy number Lung cancer - 20668451 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391483 30442007 Gain or loss Breast cancer - 20668451 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391483 30442007 Gain or loss Cancer - 20668451 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391483 30442007 Gain or loss Lung cancer - 20668451 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391483 30442007 Gain or loss Ovarian cancer - 20668451 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391483 30442007 Gain or loss Pancreas cancer - 20668451 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391483 30442007 Gain or loss Prostate cancer - 20668451 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391572 30442006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391572 30442006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30391660 30441772 Gain and loss Pancreatic cancer SNP array 17952125 DCTPP1,SEPT1,ZNF48,ZNF771 chr16 30400779 31299715 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30401956 30402016 Gain and loss Pancreatic cancer SNP array 17952125 ZNF48 chr16 3040242 3922252 LOH Normal High-resolution SNP genotyping 21211785 C16orf90,CCDC64B,CLDN6,CLDN9,CLUAP1,CREBBP,DNASE1,FLJ39639,HCFC1R1,IL32,LINC00514,LOC100128770,MEFV,MGC3771,MMP25,MTRNR2L4,NAA60,NLRC3,OR1F1,OR1F2P,OR2C1,SLX4,THOC6,TIGD7,TNFRSF12A,TRAP1,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF597,ZNF75A,ZSCAN10 chr16 30413167 31248487 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30419838 31293275 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30423108 30462409 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DCTPP1,SEPHS2,ZNF771 chr16 30423108 31179527 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30423108 31538221 LOH Normal High-resolution SNP genotyping 21211785 ARMC5,BCKDK,BCL7C,C16orf58,C16orf93,COX6A2,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SETD1A,SLC5A2,SNORA30,SRCAP,STX1B,STX4,TGFB1I1,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 30423108 31567672 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,BCKDK,BCL7C,C16orf58,C16orf93,COX6A2,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SETD1A,SLC5A2,SNORA30,SRCAP,STX1B,STX4,TGFB1I1,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843 chr16 30427625 31173862 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30429704 31196125 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785 chr16 30432764 31276983 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30436378 31173862 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30436378 31293275 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30437457 30471643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCTPP1,SEPHS2 chr16 30440043 31166396 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30440043 31429724 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,DCTPP1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30442829 30445411 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30442858 30445365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30442858 30445365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30447067 31188405 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SEPHS2,SETD1A,SNORA30,SRCAP,STX1B,STX4,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30449189 30453740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30450281 30453695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30462409 31299715 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,ITGAM,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30463943 31012954 LOH Normal High-resolution SNP genotyping 21211785 BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,RNF40,SETD1A,SNORA30,SRCAP,STX1B,ZNF629,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30463943 31244119 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30467482 31061280 LOH Normal High-resolution SNP genotyping 21211785 BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,RNF40,SETD1A,SNORA30,SRCAP,STX1B,STX4,ZNF629,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30467482 31162689 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SETD1A,SNORA30,SRCAP,STX1B,STX4,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30467482 31179527 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,RNF40,SETD1A,SNORA30,SRCAP,STX1B,STX4,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30472586 30477175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30472586 30477175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30472587 30477085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30481417 31270900 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAL,KAT8,LOC100862671,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF747,ZNF764,ZNF768,ZNF785 chr16 30486501 32510500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHSP,ARMC5,BCKDK,BCL7C,C16orf58,C16orf93,COX6A2,CSDAP1,CTF1,FBRS,FBXL19,FBXL19-AS1,FUS,HERC2P4,HSD3B7,ITGAD,ITGAL,ITGAM,ITGAX,KAT8,KIAA0664L3,LOC100862671,LOC390705,LOC729264,LOC730183,MIR4518,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SETD1A,SLC5A2,SNORA30,SRCAP,STX1B,STX4,TGFB1I1,TRIM72,VKORC1,ZNF267,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF785,ZNF843 chr16 30488554 30491556 Gain and loss Pancreatic cancer SNP array 17952125 ITGAL chr16 30497795 30504591 Gain and loss Pancreatic cancer SNP array 17952125 ITGAL chr16 30522203 30529183 Gain and loss Pancreatic cancer SNP array 17952125 ITGAL chr16 30522203 30529192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGAL chr16 30522203 30529192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAL chr16 3055313 3059669 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr16 3055314 3059552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3055314 3059669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3055314 3059669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30569724 30575234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30569724 30575234 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30569724 30575234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3057003 3057122 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 30577790 30589632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF688 chr16 30577790 30589632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF688 chr16 30578744 30589631 Gain and loss Pancreatic cancer SNP array 17952125 ZNF688 chr16 30593444 30625716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF689,ZNF785 chr16 30594122 30594205 Gain and loss Pancreatic cancer SNP array 17952125 ZNF785 chr16 30594122 30594205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF785 chr16 3059525 3059593 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3059525 3059636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30604291 30604416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 30617963 30658951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF689 chr16 30617963 30658951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF689 chr16 30618709 30621909 Loss Normal 244K array 17666407 ZNF689 chr16 30620151 30620257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF689 chr16 30620179 30620256 Gain and loss Pancreatic cancer SNP array 17952125 ZNF689 chr16 30620179 30620256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF689 chr16 30622886 30663100 Gain and loss Pancreatic cancer SNP array 17952125 PRR14 chr16 3062829 3062929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLDN9 chr16 30629359 30629487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30629359 30629487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30667224 30676183 Gain and loss Pancreatic cancer SNP array 17952125 FBRS,PRR14 chr16 30667238 30676183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBRS,PRR14 chr16 30667238 30676183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBRS,PRR14 chr16 30669792 30669886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 30675001 30706500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBRS chr16 30675607 30675699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 30676254 30681043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBRS chr16 30676254 30681043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBRS chr16 30676258 30680588 Gain and loss Pancreatic cancer SNP array 17952125 FBRS chr16 30680760 30680843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBRS chr16 30681100 30695129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBRS chr16 30681100 30695129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBRS chr16 30681131 30694037 Gain and loss Pancreatic cancer SNP array 17952125 FBRS chr16 30697271 30706024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30697271 30706024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30700540 30705990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30706501 30902000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL7C,C16orf93,LOC100862671,LOC730183,MIR4519,PHKG2,RNF40,SNORA30,SRCAP,ZNF629 chr16 3072167 3072235 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF12A chr16 3072167 3072308 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF12A chr16 30739927 30740859 Gain and loss Pancreatic cancer SNP array 17952125 SRCAP chr16 30739971 30740859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCAP chr16 30753770 30812900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf93,LOC100862671,PHKG2,RNF40,ZNF629 chr16 30753770 30812900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf93,LOC100862671,PHKG2,RNF40,ZNF629 chr16 3076118 3076302 Gain and loss Pancreatic cancer SNP array 17952125 THOC6 chr16 3076145 3076302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THOC6 chr16 3076196 3076302 Gain and loss Pancreatic cancer SNP array 17952125 THOC6 chr16 3078896 3082862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC64B,LOC100128770 chr16 3078896 3082862 Gain and loss Pancreatic cancer SNP array 17952125 CCDC64B,LOC100128770 chr16 3078896 3082862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC64B,LOC100128770 chr16 30806619 30812900 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30811287 31424780 LOH Normal High-resolution SNP genotyping 21211785 BCKDK,BCL7C,CTF1,FBXL19,FBXL19-AS1,FUS,HSD3B7,ITGAD,ITGAM,ITGAX,KAT8,MIR4519,MIR762,ORAI3,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,SETD1A,STX1B,STX4,TRIM72,VKORC1,ZNF646,ZNF668 chr16 30811875 30822381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30811875 30822381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30812726 30812801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30815429 30822381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30841418 30841786 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30841418 30841786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30841893 30867598 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30842919 30867605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30842919 30867605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30843396 30867605 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 30843396 30867605 Gain or loss Cancer - 20668451 NOT_FOUND chr16 30843396 30867605 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 30843396 30867605 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 30843396 30867605 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 30843396 30867605 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 63086239 63120758 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DOCK7 chr16 30867916 30873757 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr16 30867916 30873757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30867916 30873757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 30867916 30873757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 30876116 30903482 Copy number Autism Illumina Humanhap300 Beadchips 19492091 BCL7C,MIR4519 chr16 30876116 30903482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL7C,MIR4519 chr16 30876116 30903482 Gain and loss Pancreatic cancer SNP array 17952125 BCL7C,MIR4519 chr16 30876116 30903482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL7C,MIR4519 chr16 30892538 30894915 Loss Normal 244K array 17666407 NOT_FOUND chr16 30902001 30910500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL7C,CTF1,MIR762 chr16 30904029 30907972 Gain and loss Pancreatic cancer SNP array 17952125 BCL7C,CTF1,MIR762 chr16 30904029 30907974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL7C,CTF1,MIR762 chr16 30904029 30907974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL7C,CTF1,MIR762 chr16 30905848 30905948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 30908880 30908965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTF1 chr16 30910501 30991500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTF1,FBXL19,FBXL19-AS1,ORAI3,SETD1A chr16 30910869 30929276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTF1 chr16 30910869 30929276 Gain and loss Pancreatic cancer SNP array 17952125 CTF1 chr16 30910869 30929276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTF1 chr16 30939297 30939360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXL19 chr16 30951917 30958985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL19 chr16 30951917 30958985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL19 chr16 30952404 30958985 Gain and loss Pancreatic cancer SNP array 17952125 FBXL19 chr16 30979672 30993005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETD1A chr16 30979672 30993005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETD1A chr16 30979673 30993005 Gain and loss Pancreatic cancer SNP array 17952125 SETD1A chr16 30987180 30987280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SETD1A chr16 30991501 31069500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSD3B7,SETD1A,STX1B,STX4 chr16 30993263 31002327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSD3B7,SETD1A,STX1B chr16 30993263 31002327 Gain and loss Pancreatic cancer SNP array 17952125 HSD3B7,SETD1A,STX1B chr16 30993263 31002327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSD3B7,SETD1A,STX1B chr16 30995745 30995745 Copy number Prostate cancer Illumina GA II sequencer 21307934 SETD1A chr1 63100000 76700000 Amplification Breast cancer BAC 32k clone set 22002566 ACADM,AK4,ALG6,ANKRD13C,ASB17,ATG4C,C1orf141,C1orf173,CACHD1,CRYZ,CTH,DEPDC1,DIRAS3,DLEU2L,DNAJC6,DOCK7,EFCAB7,FOXD3,FPGT,FPGT-TNNI3K,GADD45A,GNG12,GNG12-AS1,HHLA3,IL12RB2,IL23R,INSL5,ITGB3BP,JAK1,LEPR,LEPROT,LHX8,LINC00466,LRRC40,LRRC7,LRRIQ3,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4794,MSH4,NEGR1,NEGR1-IT1,PDE4B,PGM1,PIN1P1,PTGER3,RABGGTB,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,TCTEX1D1,TNNI3K,TYW3,UBE2U,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr16 31002246 31007631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STX1B chr16 31002246 31007631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STX1B chr16 31002260 31008450 Gain and loss Pancreatic cancer SNP array 17952125 STX1B chr16 31009664 31014802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STX1B chr16 31009664 31014802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STX1B chr16 31009677 31013777 Gain and loss Pancreatic cancer SNP array 17952125 STX1B chr16 31010 2251161 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGDIG,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC78,CHTF18,CLCN7,CRAMP1L,DDX11L10,DECR2,EME2,FAHD1,FAM173A,FAM195A,FBXL16,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HN1L,HS3ST6,IFT140,IGFALS,ITFG3,JMJD8,LINC00235,LINC00254,LMF1,LOC100134368,LUC7L,MAPK8IP3,MEIOB,METRN,MIR1225,MIR3176,MIR3177,MIR3180-5,MIR4516,MIR5587,MIR662,MPG,MRPL28,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NTHL1,NUBP2,PDIA2,PIGQ,PKD1,POLR3K,PRR25,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBL3,TELO2,TMEM204,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZNF598 chr16 31010 3500902 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCA17P,ABCA3,AMDHD2,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf59,C16orf79,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CRAMP1L,DDX11L10,DECR2,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM173A,FAM195A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,OR1F1,OR1F2P,OR2C1,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 31010 7265579 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DDX11L10,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,LUC7L,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 31024929 31031420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31024929 31031420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3102564 3110517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMP25 chr16 3102564 3110517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP25 chr16 3102607 3110517 Gain and loss Pancreatic cancer SNP array 17952125 MMP25 chr16 31027162 31031613 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 31027162 31031613 Gain or loss Cancer - 20668451 NOT_FOUND chr16 31027162 31031613 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 31027162 31031613 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 31027162 31031613 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 31027162 31031613 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 31027222 31031420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 31036488 31050206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STX4 chr16 31036488 31050206 Gain and loss Pancreatic cancer SNP array 17952125 STX4 chr16 31036488 31050206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STX4 chr16 31050255 31054320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STX4 chr16 31050255 31054320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STX4 chr16 31050257 31054320 Gain and loss Pancreatic cancer SNP array 17952125 STX4 chr16 310504 310604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITFG3 chr16 31056370 31056663 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 31057750 31068888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 31057753 31068916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31069501 31132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCKDK,KAT8,PRSS53,VKORC1,ZNF646,ZNF668 chr16 31084766 31144011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCKDK,KAT8,PRSS53,PRSS8,VKORC1,ZNF646,ZNF668 chr16 31084766 31144011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCKDK,KAT8,PRSS53,PRSS8,VKORC1,ZNF646,ZNF668 chr16 31093395 31093646 Gain and loss Pancreatic cancer SNP array 17952125 ZNF646 chr16 31098953 31110600 Gain or loss Breast cancer - 20668451 PRSS53,VKORC1 chr16 31098953 31110600 Gain or loss Cancer - 20668451 PRSS53,VKORC1 chr16 31098953 31110600 Gain or loss Lung cancer - 20668451 PRSS53,VKORC1 chr16 31098953 31110600 Gain or loss Ovarian cancer - 20668451 PRSS53,VKORC1 chr16 31098953 31110600 Gain or loss Pancreas cancer - 20668451 PRSS53,VKORC1 chr16 31098953 31110600 Gain or loss Prostate cancer - 20668451 PRSS53,VKORC1 chr16 31098954 31110598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRSS53,VKORC1 chr16 31098954 31110598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRSS53,VKORC1 chr16 31098960 31110424 Gain and loss Pancreatic cancer SNP array 17952125 PRSS53,VKORC1 chr16 31102589 31102590 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 VKORC1 chr16 31120307 31121752 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 BCKDK chr16 31120310 31121752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCKDK chr16 31120310 31121752 Gain and loss Pancreatic cancer SNP array 17952125 BCKDK chr16 31120310 31121752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCKDK chr16 31132501 31136000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KAT8 chr16 31132916 31144011 Gain and loss Pancreatic cancer SNP array 17952125 KAT8,PRSS8 chr16 31134784 31135915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAT8 chr16 31134784 31135915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT8 chr16 31134785 31135915 Gain and loss Pancreatic cancer SNP array 17952125 KAT8 chr16 31136001 31375000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FUS,ITGAM,ITGAX,KAT8,PRSS36,PRSS8,PYCARD,PYDC1,TRIM72 chr16 3115309 3115394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL32 chr16 31163632 31163927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 31168413 31251702 Gain and loss Pancreatic cancer SNP array 17952125 FUS,PYCARD,PYDC1,TRIM72 chr16 31176008 31251714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FUS,PYCARD,PYDC1,TRIM72 chr16 31176008 31251714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUS,PYCARD,PYDC1,TRIM72 chr16 31187972 31996196 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,C16orf58,COX6A2,CSDAP1,FUS,ITGAD,ITGAM,ITGAX,KIAA0664L3,PYCARD,PYDC1,SLC5A2,TGFB1I1,TRIM72,ZNF267,ZNF720,ZNF843 chr16 31190000 33540000 Deletion Sezary syndrome Array-based CGH 18413736 AHSP,ARMC5,C16orf58,COX6A2,CSDAP1,FUS,HERC2P4,ITGAD,ITGAM,ITGAX,KIAA0664L3,LOC390705,LOC729264,PYCARD,PYDC1,RNU6-76,SLC5A2,SLC6A10P,TGFB1I1,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,ZNF267,ZNF720,ZNF843 chr16 31191453 31203097 Amplificationlication Lung adenocarcinoma 244K Whole Human Genome microarrays 21151896 FUS chr16 31203371 31203451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FUS chr16 31235704 31237760 Amplification or deletion Cancer Array CGH 17440070 TRIM72 chr16 31242868 31242964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 31247412 31247616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 3124925 3132805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 31250313 31288213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAM chr16 3125140 3132805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3125140 3132805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31270003 35143083 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,C16orf58,COX6A2,CSDAP1,FLJ26245,HERC2P4,ITGAD,ITGAM,ITGAX,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC5A2,SLC6A10P,TGFB1I1,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720,ZNF843 chr16 31274009 31301819 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ITGAM chr16 31274010 31301819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGAM chr16 31274010 31301819 Gain and loss Pancreatic cancer SNP array 17952125 ITGAM chr16 31274010 31301819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAM chr16 31279483 35143083 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,C16orf58,COX6A2,CSDAP1,FLJ26245,HERC2P4,ITGAD,ITGAM,ITGAX,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC5A2,SLC6A10P,TGFB1I1,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720,ZNF843 chr16 31283998 35143083 LOH Normal High-resolution SNP genotyping 21211785 AHSP,ARMC5,C16orf58,COX6A2,CSDAP1,FLJ26245,HERC2P4,ITGAD,ITGAM,ITGAX,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC5A2,SLC6A10P,TGFB1I1,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720,ZNF843 chr16 31312098 31344950 Gain and loss Pancreatic cancer SNP array 17952125 ITGAM chr16 31312134 31345327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGAM chr16 31312134 31345327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAM chr16 3134001 3141000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZSCAN10 chr16 31346556 31347222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31346556 31347222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 31346556 31347222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31354260 31361982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31354260 31361982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 31354260 31361982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31354385 31361849 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 31375001 31416000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITGAD,ITGAX chr16 31377818 31385986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGAX chr16 31377818 31385986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAX chr16 31377818 31385988 Gain and loss Pancreatic cancer SNP array 17952125 ITGAX chr16 31390985 31396781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGAX chr16 31390985 31396781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAX chr16 31390993 31396781 Gain and loss Pancreatic cancer SNP array 17952125 ITGAX chr16 31394763 31394797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 31401940 31409590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGAD chr16 31401940 31409590 Gain and loss Pancreatic cancer SNP array 17952125 ITGAD chr16 31401940 31409590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAD chr16 31408316 31427207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGAD chr16 31408316 31427207 Gain and loss Pancreatic cancer SNP array 17952125 ITGAD chr16 31408316 31427207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAD chr16 3141001 3183000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MGC3771,ZNF205,ZSCAN10 chr16 31416001 31427500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITGAD chr16 3142610 3142681 Gain and loss Pancreatic cancer SNP array 17952125 ZSCAN10 chr16 3142610 3142681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSCAN10 chr16 31427501 31622000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AHSP,ARMC5,C16orf58,COX6A2,CSDAP1,ITGAD,SLC5A2,TGFB1I1,ZNF843 chr1 63143439 63143741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK7 chr16 31446680 31447624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF843 chr16 31446680 31447624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF843 chr16 31446687 31447624 Gain and loss Pancreatic cancer SNP array 17952125 ZNF843 chr16 31462648 31521526 Gain and loss Pancreatic cancer SNP array 17952125 ARMC5,C16orf58,SLC5A2,TGFB1I1 chr16 31465624 31466532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31465624 31466532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31465639 31466529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 31474825 31474887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARMC5 chr16 31476343 88827254 Loss Wilms tumour 250K Genotyping Arrays 21544195 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AHSP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ARMC5,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf58,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSDAP1,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERC2P4,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0664L3,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00273,LINC00311,LOC100129617,LOC100130700,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388276,LOC390705,LOC400548,LOC643714,LOC643802,LOC644649,LOC729264,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNU6-76,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TSNAXIP1,TXNL4B,UBE2MP1,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF267,ZNF319,ZNF423,ZNF469,ZNF720,ZNF821,ZNRF1 chr16 31485720 31485790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFB1I1 chr16 31488031 88827254 Loss Wilms tumour 250K Genotyping Arrays 21544195 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AHSP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf58,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSDAP1,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERC2P4,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0664L3,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00273,LINC00311,LOC100129617,LOC100130700,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388276,LOC390705,LOC400548,LOC643714,LOC643802,LOC644649,LOC729264,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNU6-76,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TSNAXIP1,TXNL4B,UBE2MP1,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF267,ZNF319,ZNF423,ZNF469,ZNF720,ZNF821,ZNRF1 chr16 315057 387022 Copy number Autism exome sequencing 22495311 ARHGDIG,AXIN1,ITFG3,PDIA2,RGS11 chr16 31510771 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHSP,C16orf58,CSDAP1,FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31520558 31522248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31521359 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHSP,CSDAP1,FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31526202 35843070 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 AHSP,CSDAP1,FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31538221 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHSP,CSDAP1,FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31541140 33699384 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CSDAP1,HERC2P4,KIAA0664L3,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267,ZNF720 chr16 31541140 33703792 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CSDAP1,HERC2P4,KIAA0664L3,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267,ZNF720 chr16 31543488 31576343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 31554569 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CSDAP1,FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31567672 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CSDAP1,FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31602764 31680296 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr16 3160962 3161032 Gain and loss Pancreatic cancer SNP array 17952125 MGC3771 chr16 3160962 3161032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGC3771 chr16 31619434 31626246 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 31619435 31626230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31619435 31626230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31620484 31626244 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 31622001 31632500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 31624102 88827254 Loss Wilms tumour 250K Genotyping Arrays 21544195 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERC2P4,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0664L3,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00273,LINC00311,LOC100129617,LOC100130700,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388276,LOC390705,LOC400548,LOC643714,LOC643802,LOC644649,LOC729264,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNA5SP411,RNF166,RNU6-76,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A10P,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TSNAXIP1,TXNL4B,UBE2MP1,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF267,ZNF319,ZNF423,ZNF469,ZNF720,ZNF821,ZNRF1 chr16 31632096 31680386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31632096 31680386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31632096 31836123 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0664L3,ZNF720 chr16 31658070 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,KIAA0664L3,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267,ZNF720 chr16 31669014 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31672282 31710886 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr16 31672505 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31678970 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31678970 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,KIAA0664L3,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr1 63168119 64275521 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG6,ATG4C,DLEU2L,EFCAB7,FOXD3,ITGB3BP,LINC00466,PGM1,ROR1 chr16 3169213 3202513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF205,ZNF213 chr16 31724281 31755376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF720 chr16 31725864 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31726748 31727666 Gain and loss Pancreatic cancer SNP array 17952125 ZNF720 chr16 31726748 31727666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF720 chr16 31736153 31973415 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZNF267,ZNF720 chr16 31736153 32079501 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZNF267,ZNF720 chr16 31736153 32205188 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,ZNF267,ZNF720 chr16 31736153 32345224 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,ZNF267,ZNF720 chr16 31736153 32345224 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,ZNF267,ZNF720 chr16 31736153 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267,ZNF720 chr16 31736153 33581409 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267,ZNF720 chr16 31736153 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267,ZNF720 chr16 31738090 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31745804 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31745804 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267,ZNF720 chr16 31787730 32079501 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZNF267 chr16 31787730 32205188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,ZNF267 chr16 31787730 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267 chr16 31787730 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267 chr16 31792579 31836128 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 31792627 31836123 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31792627 31836123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31800497 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267 chr16 31807048 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267 chr16 31807048 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267 chr16 31820200 33694692 Copy number loss Normal High-resolution SNP genotyping 21211785 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267 chr16 31820200 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267 chr16 31828980 31831766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 3183001 3272500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR1F1,OR1F2P,ZNF200,ZNF213 chr16 31839845 32136481 Duplication Normal Affymetrix 6.0 microarrays 20967226 ZNF267 chr16 31854743 53525739 Deletion Cancer Affymetrix 250K Sty array 20164920 ABCC11,ABCC12,ADCY7,AKTIP,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CHD9,CNEP1R1,CYLD,DNAJA2,FLJ26245,GPT2,HEATR3,HERC2P4,ITFG1,LINC00273,LOC100130700,LOC100505619,LOC100507577,LOC146481,LOC283914,LOC388276,LOC390705,LOC643714,LOC643802,LOC729264,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,RBL2,RNA5SP411,RNU6-76,SALL1,SHCBP1,SIAH1,SLC6A10P,SNX20,TOX3,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,VPS35,ZNF267,ZNF423 chr16 3186154 3186226 Gain and loss Pancreatic cancer SNP array 17952125 ZNF213 chr16 3186154 3186226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF213 chr16 31873117 31901431 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF267 chr16 31873117 33662492 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267 chr16 31880910 31893183 Gain and loss Pancreatic cancer SNP array 17952125 ZNF267 chr16 31880910 31893183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF267 chr16 31882199 33718990 Duplication Normal Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267 chr16 31890000 33531000 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,ZNF267 chr16 31892501 31923250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF267 chr16 31894362 31922104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF267 chr16 31894624 31921668 Gain and loss Pancreatic cancer SNP array 17952125 ZNF267 chr16 31901431 31948315 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF267 chr16 31917693 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267 chr16 31917693 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1,ZNF267 chr16 3193346 3193430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 31940875 32210978 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HERC2P4 chr16 31940875 32538757 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 31940875 33820531 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 3194248 3195189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3194248 3195189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3194248 3195189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 31946953 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 31948315 31965996 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 31953353 32205188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4 chr16 31953353 32902091 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr1 6319616 6363848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACOT7,GPR153 chr16 31965996 31988374 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 31970812 31971102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 31974497 33760388 Loss Normal 244K array 17666407 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 31977906 32928444 Gain and loss Pancreatic cancer SNP array 17952125 HERC2P4,LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 31988362 33662480 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 31988362 33680554 Duplication Normal Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 31988374 32021183 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 31988585 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 31988585 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 31996196 33694692 Copy number loss Normal High-resolution SNP genotyping 21211785 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 31996196 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 31996196 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 32007266 32205188 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4 chr16 32007266 32205188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4 chr16 32007266 32345224 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32007266 32456419 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32007266 32497894 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32007266 32610994 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32007266 32746234 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,TP53TG3,TP53TG3B,TP53TG3C chr16 32007266 32773201 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,TP53TG3,TP53TG3B,TP53TG3C chr16 32007266 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32009310 32099878 Gain Normal BAC array 16365383 NOT_FOUND chr16 3201029 3203406 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 32021171 32538043 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32021171 32538757 Deletion Normal Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32021171 32550863 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32021171 32550863 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HERC2P4,LOC390705,LOC729264 chr16 32021171 32562518 Deletion Normal Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32021171 32563012 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32021183 32031832 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32022312 32124506 Gain Stenocardia MACArray Karyo 76K BAC-chips 21860640 NOT_FOUND chr16 32022312 32124506 Gain Vasospasm MACArray Karyo 76K BAC-chips 21860640 NOT_FOUND chr16 32031832 32054386 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32031832 32747839 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 HERC2P4,LOC390705,LOC729264,TP53TG3,TP53TG3B,TP53TG3C chr16 32048175 32547836 Copy number loss Normal High-resolution SNP genotyping 21211785 HERC2P4,LOC390705,LOC729264 chr16 32048175 32557988 Copy number loss Normal High-resolution SNP genotyping 21211785 HERC2P4,LOC390705,LOC729264 chr16 32048175 33694692 Copy number loss Normal High-resolution SNP genotyping 21211785 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32048175 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 32048175 35143083 Copy number loss Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 32054375 32542253 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32054375 32562442 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32054375 33718990 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32054386 32054387 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32054387 32084681 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32054387 32542265 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HERC2P4,LOC390705,LOC729264 chr16 32055854 32459508 Copy number Lung cancer paired-end sequencing 18438408 HERC2P4,LOC390705,LOC729264 chr16 3205613 3206544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3205613 3206544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32066096 32563012 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32066096 32563012 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HERC2P4,LOC390705,LOC729264 chr16 32066096 33539331 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32066096 33680554 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32066096 33683586 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32068548 32587324 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 HERC2P4,LOC390705,LOC729264 chr16 32070109 32071375 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 32073161 35143083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FLJ26245,HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC729264,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 32081252 32565820 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 HERC2P4,LOC390705,LOC729264 chr16 32082910 33715287 Amplification Breast cancer FISH 17142309 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32084681 32472013 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HERC2P4,LOC390705,LOC729264 chr16 32106704 32113996 Gain Normal BAC array 16365383 NOT_FOUND chr16 3212326 3225412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3212326 3225412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3212351 3225410 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32124539 32405827 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HERC2P4,LOC390705,LOC729264 chr16 32124539 32841251 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HERC2P4,LOC390705,LOC729264,TP53TG3,TP53TG3B,TP53TG3C chr16 32136481 32538043 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32136481 33745387 Duplication Normal Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32140874 32205188 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4 chr16 32140874 32205188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4 chr16 32140874 32345224 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32140874 32438331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32140874 32438331 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32140874 32610994 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32140874 32610994 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264 chr16 32140874 32746234 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,TP53TG3,TP53TG3B,TP53TG3C chr16 32140874 32758111 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,TP53TG3,TP53TG3B,TP53TG3C chr16 32140874 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32140874 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32151962 32562518 Deletion Normal Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32151962 32563012 Deletion Normal Affymetrix 6.0 microarrays 20967226 HERC2P4,LOC390705,LOC729264 chr16 32151986 33709485 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 HERC2P4,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32172144 32188269 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32172145 32176496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32172570 34717538 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 LINC00273,LOC146481,LOC283914,LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 32173168 33346220 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32173168 33346220 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32181810 32206373 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr16 32187845 32650970 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,LOC729264 chr16 32198944 32220115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 32202021 32211175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 32202996 32209339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 32203181 32211361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 32206388 32438331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264 chr16 32206388 32456419 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264 chr16 32206388 32456419 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264 chr16 32206388 32497894 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264 chr16 32206388 32610994 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264 chr16 32206388 32746234 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264,TP53TG3,TP53TG3B,TP53TG3C chr16 32206388 32898544 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32206388 32902091 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32206388 33187759 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32206388 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,LOC729264,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32210978 32542253 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,LOC729264 chr16 32210978 32543138 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,LOC729264 chr16 32210978 32563012 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,LOC729264 chr16 32210978 32650970 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,LOC729264 chr16 32269001 32392000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC390705 chr16 32270487 32281110 Gain Normal TaqMan assays 20972442 NOT_FOUND chr16 32288440 32538757 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705 chr16 32288440 32542253 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705 chr16 32288440 32562459 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705 chr16 32288440 32563012 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705 chr16 32288440 32563012 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705 chr16 32288440 32650970 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705 chr16 32288440 32723310 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 32288440 32787273 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 32288440 33618269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32296493 32610994 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705 chr16 32296493 32746234 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 32296493 32758111 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 32297917 32298822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32298171 32298749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32303108 32522407 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32303108 32542253 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 32303108 32550863 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 32303108 32563012 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32303108 32650970 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32303108 32698758 Deletion Normal Affymetrix 6.0 microarrays 20967226 TP53TG3,TP53TG3B,TP53TG3C chr16 32303108 32787273 Deletion Normal Affymetrix 6.0 microarrays 20967226 TP53TG3,TP53TG3B,TP53TG3C chr16 32303108 33517272 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32303108 33618269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32314845 46597768 Copy number Normal Quantitative Real-Time PCR 17666543 ANKRD26P1,FLJ26245,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,RNA5SP411,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C,UBE2MP1 chr16 3232029 3246628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3232029 3246628 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 3232029 3246628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3232029 3246628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32320722 32563012 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32320722 32563012 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32325165 32478825 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32325165 32562518 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32325165 32563012 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32325165 33680554 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32340542 32538757 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32340542 32538757 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32340542 32542253 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32340542 32650970 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32340542 33718990 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32341133 32610994 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 32341133 32746234 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 32341133 32902091 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32341133 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32341133 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr1 63234354 63234702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 32347609 32610994 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 32357891 32358320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32364447 32569534 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 32365889 33757575 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32387770 33474440 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32389908 32538043 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32389908 32542253 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32389908 33680554 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32392001 32397000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 32397001 32400000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 32400001 32422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 32403080 32405298 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 32418313 32538043 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 32419813 32610994 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 32419813 32610994 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 32419813 32746234 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 32746234 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 32758111 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 32773201 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 32773201 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 33187759 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 33187759 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 33295075 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 33452774 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32419813 33715261 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32422001 32470000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 32427979 32439701 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 32432795 32453587 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 32433419 32433475 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 32439675 32441217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 32446676 32576815 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 32446676 32746234 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 32459227 32459655 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 32470001 32506000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 32472001 32787273 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 TP53TG3,TP53TG3B,TP53TG3C chr16 32472001 33745387 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32472013 32496410 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32472505 33801989 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32475066 33781144 Copy number Lung cancer paired-end sequencing 18438408 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32481309 32530049 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr16 32496112 32516762 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr16 32496112 32516762 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr16 32496410 32538769 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32505801 32511500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 32506001 32513000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 3250708 3711614 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1075K arrays 21546498 C16orf90,CLUAP1,DNASE1,FLJ39639,MEFV,MTRNR2L4,NAA60,NLRC3,OR1F1,OR1F2P,OR2C1,SLX4,TIGD7,TRAP1,ZNF174,ZNF200,ZNF263,ZNF434,ZNF597,ZNF75A chr16 32510501 33750200 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32513001 32517500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 32525620 32525726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 32531735 33680554 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 3253803 3257372 Gain and loss Pancreatic cancer SNP array 17952125 OR1F1 chr16 32538769 32542142 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32542142 32542265 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32542265 32550875 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32550875 32563024 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32551273 32552273 Loss Osteosarcoma References 21215367 NOT_FOUND chr16 32559871 33699384 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32563024 32650982 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32577185 33187759 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32579144 32595554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32584258 33202625 Gain Autism 1M Ailent CGH whole-genome array 21865298 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32590597 32596379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32592349 32595554 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr16 32612180 32902091 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32612180 33187759 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32612180 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32630000 33780000 Loss Breast cancer aCGH 21509527 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32650970 33662480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32650982 32698770 Gain or loss Normal Birdsuite, version 1.5.2 22087296 TP53TG3,TP53TG3B,TP53TG3C chr16 32669331 33344111 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC390705,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32674891 32749246 Gain Stenocardia MACArray Karyo 75K BAC-chips 21860640 TP53TG3,TP53TG3B,TP53TG3C chr16 32674891 32749246 Gain Vasospasm MACArray Karyo 75K BAC-chips 21860640 TP53TG3,TP53TG3B,TP53TG3C chr16 32698770 32719553 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32702972 33346038 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32719553 32746359 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32722382 32898544 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P chr16 32722382 32902091 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P chr16 32722382 33187759 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P chr16 32722382 33281921 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32722382 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32722382 33456507 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32722382 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32722382 33715261 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 3272501 3274000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF200 chr16 32731001 32764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 3273488 3281452 Gain and loss Pancreatic cancer SNP array 17952125 ZNF200 chr16 3273488 3281456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF200 chr16 3273488 3281456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF200 chr16 3273488 3281461 Deletion T-cell lymphomas Array-CGH 22341440 ZNF200 chr16 32738162 33187759 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P chr16 32738162 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32738162 33295075 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32738162 33456507 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32738162 33555929 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32738162 33581409 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32738162 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32738162 33715261 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32745597 32764551 Gain Normal TaqMan assays 20972442 NOT_FOUND chr16 32746359 32751036 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32751036 32787285 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32751189 33618269 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32764501 32840000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 32766520 32766971 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32766520 32767004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32766520 32767004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 63278601 174979260 Duplication Intellectual disability Array CGH 22102821 ABCA4,ABCD3,ACADM,ACP6,ACTG1P4,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCY10,ADORA3,AGL,AHCYL1,AIM2,AK4,AK5,AKNAD1,AKR7A2P1,ALDH9A1,ALG14,ALG6,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,AQP10,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARNT,ASB17,ASH1L,ASH1L-AS1,ATF6,ATG4C,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP5F1,ATP8B2,ATXN7L2,B4GALT3,BARHL2,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BRDT,BTBD8,C1orf105,C1orf110,C1orf111,C1orf112,C1orf114,C1orf129,C1orf141,C1orf146,C1orf162,C1orf173,C1orf180,C1orf189,C1orf192,C1orf194,C1orf204,C1orf226,C1orf43,C1orf51,C1orf52,C1orf54,C1orf56,C1orf61,C1orf68,C1orf85,C1orf88,C2CD4D,CA14,CACHD1,CACYBP,CADM3,CAPZA1,CASQ1,CASQ2,CCBL2,CCDC18,CCDC19,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD48,CD53,CD58,CD5L,CD84,CDC14A,CDC42SE1,CDC7,CELF3,CELSR2,CENPL,CEPT1,CERS2,CGN,CHD1L,CHI3L2,CHIA,CHRNB2,CHTOP,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLK2,CNN3,COL11A1,COL24A1,COPA,CRABP2,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CTBS,CTH,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYCSP52,CYMP,CYR61,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DEDD,DENND2C,DENND2D,DENND4B,DEPDC1,DIRAS3,DLEU2L,DNAJA1P5,DNAJB4,DNAJC6,DNASE2B,DNM3,DNM3OS,DNTTIP2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DUSP12,DUSP23,DUSP27,ECM1,EFCAB7,EFNA1,EFNA3,EFNA4,ELTD1,EMBP1,ENSA,EPHX4,EPS8L3,ETV3,ETV3L,EVI5,EXTL2,F11R,F3,F5,FAM102B,FAM189B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM63A,FAM69A,FAM72B,FAM72D,FAM73A,FAM78B,FAM91A2,FASLG,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FLAD1,FLG,FLG2,FLJ27354,FLJ31662,FLJ39739,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FNBP1L,FNDC7,FOXD3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GABPB2,GADD45A,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA5,GJA8,GLMN,GNAI3,GNAT2,GNG12,GNG12-AS1,GNG5,GNRHR2,GOLPH3L,GON4L,GORAB,GPA33,GPATCH4,GPR161,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HAPLN2,HAX1,HCN3,HDGF,HENMT1,HFE2,HFM1,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HMGCS2,HORMAD1,HRNR,HS2ST1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSP90B3P,HSPA6,HSPA7,HYDIN2,IFI16,IFI44,IFI44L,IGSF3,IGSF8,IGSF9,IL12RB2,IL23R,IL6R,ILDR2,ILF2,INSL5,INSRR,INTS3,IQGAP3,ISG20L2,ITGA10,ITGB3BP,ITLN1,ITLN2,IVL,JAK1,JTB,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNJ10,KCNJ9,KCNN3,KIAA0907,KIAA1107,KIAA1324,KIFAP3,KIRREL,KLHDC9,KLHL20,KPRP,KRTCAP2,LAMTOR2,LAMTOR5,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LELP1,LENEP,LEPR,LEPROT,LHX8,LINC00466,LINC00568,LINC00622,LINC00623,LINC00624,LINC00626,LINGO4,LIX1L,LMNA,LMO4,LMX1A,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100130000,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC284688,LOC339524,LOC388692,LOC400794,LOC440600,LOC440700,LOC643355,LOC643441,LOC645166,LOC646268,LOC646626,LOC653513,LOC728875,LOC728989,LOC729970,LOC729987,LOC730159,LOR,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC40,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LY9,LYSMD1,MAB21L3,MAEL,MAGI3,MAN1A2,MCL1,MCOLN2,MCOLN3,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MGC27382,MGST3,MIER1,MIR101-1,MIR1262,MIR1295A,MIR1295B,MIR137,MIR137HG,MIR186,MIR190B,MIR197,MIR199A2,MIR214,MIR2682,MIR3117,MIR3119-1,MIR3119-2,MIR3120,MIR320B1,MIR3658,MIR3671,MIR4256,MIR4257,MIR4258,MIR4423,MIR4654,MIR4794,MIR5087,MIR5187,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR760,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MLLT11,MNDA,MOV10,MPC2,MPZ,MPZL1,MRPL24,MRPL9,MRPS21,MSH4,MSTO1,MSTO2P,MTF2,MTMR11,MTX1,MUC1,MYBPHL,MYOC,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCSTN,NDUFS2,NEGR1,NEGR1-IT1,NES,NEXN,NGF,NHLH1,NHLH2,NIT1,NME7,NOS1AP,NOTCH2,NOTCH2NL,NPR1,NR1I3,NRAS,NTNG1,NTRK1,NUDT17,NUF2,NUP210L,OAZ3,ODF2L,OLFM3,OLFML2B,OLFML3,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PALMD,PAQR6,PBX1,PBXIP1,PCP4L1,PDE4B,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFN1P2,PGCP1,PGLYRP3,PGLYRP4,PGM1,PHGDH,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIN1P1,PIP5K1A,PKLR,PKN2,PLEKHO1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PRCC,PRDX6,PRKAB2,PRKACB,PRMT6,PROK1,PRPF3,PRPF38B,PRR9,PRRC2C,PRRX1,PRUNE,PSMA5,PSMB4,PSMD4,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTPN22,PVRL4,PYGO2,PYHIN1,RAB13,RAB25,RABGAP1L,RABGGTB,RAP1A,RAVER2,RBM15,RBM8A,RBMXL1,RC3H1,RCSD1,REG4,RFX5,RGS4,RGS5,RHBG,RHOC,RIIAD1,RIT1,RNF115,RNPC3,RNU6-6,ROR1,RORC,RP11-165H20.1,RPAP2,RPE65,RPF1,RPL31P11,RPL5,RPRD2,RPS27,RPTN,RRNAD1,RSBN1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA4,SCNM1,SCYL3,SDHC,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SEP15,SERBP1,SERPINC1,SETDB1,SF3B4,SFT2D2,SGIP1,SH2D1B,SH2D2A,SH3GLB1,SHC1,SHE,SIKE1,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC22A15,SLC25A24,SLC25A44,SLC27A3,SLC30A7,SLC35A3,SLC35D1,SLC39A1,SLC44A3,SLC44A5,SLC50A1,SLC6A17,SLC9C2,SMCP,SMG5,SNAPIN,SNORA42,SNORA66,SNORD21,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNX27,SNX7,SORT1,SPAG17,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPTA1,SRG7,SRGAP2B,SRSF11,SSR2,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SUCO,SUMO1P3,SV2A,SYCP1,SYDE2,SYPL2,SYT11,SYT6,TADA1,TAF13,TAGLN2,TARS2,TBX15,TBX19,TCHH,TCHHL1,TCTEX1D1,TDRD10,TDRKH,TGFBR3,THBS3,THEM4,THEM5,TIPRL,TMCO1,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TMEM79,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNNI3K,TOMM40L,TOP1P1,TPM3,TRIM33,TRIM45,TRIM46,TRMT13,TSACC,TSHB,TSPAN2,TSTD1,TTC24,TTF2,TTLL7,TUFT1,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2U,UBL4B,UBQLN4,UCK2,UFC1,UHMK1,UOX,USF1,USP21,USP33,VAMP4,VANGL1,VANGL2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR77,WDR78,WLS,WNT2B,XCL1,XCL2,YY1AP1,ZBTB37,ZBTB7B,ZNF326,ZNF644,ZNF687,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr16 32787285 32806747 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32796297 32803964 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 32796298 32803964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32796339 32804601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32805085 32807450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32806747 32806748 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32806748 32823053 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32808219 33539319 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32808219 33575301 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32823053 32823606 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32823606 32864788 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 6328349 6328449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOT7 chr16 32835792 32865219 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32838419 32946499 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 SLC6A10P chr16 32840001 32866500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 32857742 33503589 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76,SLC6A10P,TP53TG3,TP53TG3B,TP53TG3C chr16 32864788 32962159 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SLC6A10P chr16 3288833 3295646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEFV chr16 3288833 3295646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEFV chr16 3288966 3290615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 32928151 32928745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 32946367 32947367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3295487 3308575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEFV chr16 3295487 3308575 Gain and loss Pancreatic cancer SNP array 17952125 MEFV chr16 3295487 3308575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEFV chr16 32962147 33618269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 32962159 32964249 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32964249 33009105 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 32985975 33187759 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 32985975 33295075 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 32985975 33452774 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 32985975 33456507 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 32985975 33456507 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 32985975 33555929 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 32985975 33581409 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33004911 33680554 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33009105 33149454 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 33013773 33014293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33017963 33156694 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 33017963 33281921 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 33017963 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 33017963 33295075 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 33017963 33456507 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 33017963 33555929 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33017963 33581409 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33017963 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33059692 33062578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33095876 33295075 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 33095876 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33097489 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33111657 33117433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33112480 33115680 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr16 33112481 33128887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3313187 3313926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ39639 chr16 3313348 3313698 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3314301 4351600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCY9,C16orf90,CLUAP1,CREBBP,DNASE1,FLJ39639,LOC100507501,MTRNR2L4,NAA60,NLRC3,OR2C1,SLX4,SRL,TFAP4,TIGD7,TRAP1,ZNF174,ZNF263,ZNF434,ZNF597,ZNF75A chr16 33146315 33228951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TP53TG3,TP53TG3B,TP53TG3C chr16 33147013 33235516 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 33147013 33235516 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TP53TG3,TP53TG3B,TP53TG3C chr16 33147013 33452774 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 33147013 33456507 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 33149454 33208394 Gain Normal Birdsuite, version 1.5.2 22087296 TP53TG3,TP53TG3B,TP53TG3C chr16 33169015 33172220 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 33169621 33173973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33169621 33173973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33169651 33185426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33192908 33734484 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33202501 33209000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TP53TG3,TP53TG3B,TP53TG3C chr16 33208395 33311641 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 33208395 33618281 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33209001 33259500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33245613 33436245 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33528838 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33539319 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33539319 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33575301 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33618269 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33618269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33662480 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33662480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33680554 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33680554 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33680554 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33245613 33736243 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76,TP53TG3,TP53TG3B,TP53TG3C chr16 33254707 33255375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 33268627 33520394 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33268627 33680554 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33273817 33282853 Gain Normal TaqMan assays 20972442 NOT_FOUND chr16 33275424 33523627 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33275424 33539319 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33275424 33539319 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33275424 33680554 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33275424 33718990 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76 chr16 33281551 33286899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 33282424 33456507 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705 chr16 33282424 33456507 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705 chr16 33282424 33555929 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76 chr16 33282424 33581409 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76 chr16 33282424 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76 chr16 33282424 34224164 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00273,LOC390705,RNU6-76 chr16 33283373 33465426 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33283373 33515882 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33283373 33523627 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33283373 33539319 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33283373 33539319 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33283373 33680554 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33283373 33680554 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33283373 33680554 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76 chr16 33284082 33334294 Gain Normal TaqMan assays 20972442 LOC390705 chr16 33285061 33699384 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC390705,RNU6-76 chr16 33287459 33332515 Gain and loss Pancreatic cancer SNP array 17952125 LOC390705 chr16 33288255 33445093 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705 chr16 33288255 33515882 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33288255 33517272 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33288255 33618269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33288255 33680554 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC390705,RNU6-76 chr16 33288255 33680554 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC390705,RNU6-76 chr16 33295151 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC390705,RNU6-76 chr16 33295986 33694692 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC390705,RNU6-76 chr16 33295986 33694692 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC390705,RNU6-76 chr16 33311629 33465426 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33510626 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33515882 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33517272 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33539319 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33618269 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33680554 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33680554 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33680554 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33311629 33734551 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RNU6-76 chr16 33311641 33539331 Gain or loss Normal Birdsuite, version 1.5.2 22087296 RNU6-76 chr16 3331202 3364534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TIGD7,ZNF263,ZNF75A chr16 33333744 33347220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 33344099 33445093 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr16 33344099 33523627 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33344099 33680554 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33344099 33680554 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33344099 33735555 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33346038 33515882 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33346038 33680554 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33346038 33735555 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33347885 33515882 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33350379 33515882 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RNU6-76 chr16 33350379 33515882 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33354757 33520394 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33354757 33539319 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33354757 33539319 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33354757 33618269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33354757 33735555 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33354757 33736214 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr1 63335974 63596958 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-292K arrays 21546498 NOT_FOUND chr1 63335974 63641668 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-294K arrays 21546498 LINC00466 chr16 33362222 33581409 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RNU6-76 chr16 33362222 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RNU6-76 chr1 63336720 63376039 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 33383931 33515882 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33383931 33520394 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33383931 33539319 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33392351 33398613 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 33392761 33694692 Allelic imbalance Normal High-resolution SNP genotyping 21211785 RNU6-76 chr16 33392761 33694692 Copy number loss Normal High-resolution SNP genotyping 21211785 RNU6-76 chr16 33393442 33393756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 333980 335087 Gain and loss Pancreatic cancer SNP array 17952125 PDIA2 chr16 33417001 33425500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33425501 33440500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33433122 33715261 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RNU6-76 chr16 33433122 33715261 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RNU6-76 chr16 33433300 33461478 Gain Normal TaqMan assays 20972442 NOT_FOUND chr16 33440501 33449000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 63344724 63376039 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 33449001 33458500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33458743 33662480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RNU6-76 chr16 3345890 3346925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3345890 3346925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3345942 3346880 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 3345942 3346880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3346627 3365326 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TIGD7,ZNF75A chr16 33466704 33466799 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 RNU6-76 chr1 63346783 63369848 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 3347259 3360815 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TIGD7,ZNF75A chr16 3347259 3365326 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TIGD7,ZNF75A chr16 33474440 35143083 LOH Normal High-resolution SNP genotyping 21211785 FLJ26245,LINC00273,LOC100130700,LOC146481,LOC283914,RNA5SP411,RNU6-76,UBE2MP1 chr16 33476524 33660229 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-76 chr16 33494966 33540569 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RNU6-76 chr16 33498782 33680554 Deletion Normal Affymetrix 6.0 microarrays 20967226 RNU6-76 chr16 33512498 33512760 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNU6-76 chr16 3351379 3351479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TIGD7 chr16 33518689 33520855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU6-76 chr16 33518746 33520741 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-76 chr16 33536935 33537651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU6-76 chr16 33537334 33537627 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-76 chr16 33539331 33618281 Gain or loss Normal Birdsuite, version 1.5.2 22087296 RNU6-76 chr16 33544442 33715261 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RNU6-76 chr16 33553751 33772000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNU6-76 chr16 33554458 33562037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU6-76 chr16 3357585 3357650 Gain and loss Pancreatic cancer SNP array 17952125 ZNF75A chr16 3357649 3357718 Gain and loss Pancreatic cancer SNP array 17952125 ZNF75A chr16 3357649 3357718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF75A chr1 6335810 7549455 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ACOT7,CAMTA1,DNAJC11,ESPN,HES2,KLHL21,MIR4252,NOL9,PHF13,PLEKHG5,TAS1R1,THAP3,TNFRSF25,ZBTB48 chr16 3359263 3359298 Gain and loss Pancreatic cancer SNP array 17952125 ZNF75A chr16 3359263 3359298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF75A chr16 3359745 3359812 Gain and loss Pancreatic cancer SNP array 17952125 ZNF75A chr16 3359745 3359812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF75A chr16 3359814 3359885 Gain and loss Pancreatic cancer SNP array 17952125 ZNF75A chr16 3359883 3359950 Gain and loss Pancreatic cancer SNP array 17952125 ZNF75A chr16 3359883 3359950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF75A chr16 3360449 3365028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF75A chr16 3360909 3360982 Gain and loss Pancreatic cancer SNP array 17952125 ZNF75A chr16 3360909 3360982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF75A chr16 33617382 33646870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33618281 33625111 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 33623082 33716863 Gain Stenocardia MACArray Karyo 77K BAC-chips 21860640 NOT_FOUND chr16 33623082 33716863 Gain Vasospasm MACArray Karyo 77K BAC-chips 21860640 NOT_FOUND chr16 33625111 33638076 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 33638076 33683586 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 63364026 63364116 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33648307 33648607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33659 2271982 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARHGDIG,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf79,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC78,CHTF18,CLCN7,CRAMP1L,DDX11L10,DECR2,EME2,FAHD1,FAM173A,FAM195A,FBXL16,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HN1L,HS3ST6,IFT140,IGFALS,ITFG3,JMJD8,LINC00235,LINC00254,LMF1,LOC100134368,LUC7L,MAPK8IP3,MEIOB,METRN,MIR1225,MIR3176,MIR3177,MIR3180-5,MIR4516,MIR5587,MIR662,MLST8,MPG,MRPL28,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NTHL1,NUBP2,PDIA2,PGP,PIGQ,PKD1,POLR3K,PRR25,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBL3,TELO2,TMEM204,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZNF598 chr16 33661561 33673206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 33666655 33667671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33682880 33685245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33685729 33694032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33685729 33694032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33690486 33692797 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33699384 35143083 LOH Normal High-resolution SNP genotyping 21211785 FLJ26245,LINC00273,LOC100130700,LOC146481,LOC283914,RNA5SP411,UBE2MP1 chr16 3372087 3374062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3372087 3391026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3372087 3391026 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3372087 3391026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3372120 3373699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33750201 34053800 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00273 chr16 33757575 33886347 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 33760882 33761325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 63376261 63376306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 33772001 33775000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 3377269 3599472 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C16orf90,CLUAP1,MTRNR2L4,NAA60,NLRC3,OR2C1,ZNF174,ZNF434,ZNF597 chr16 33773912 33775279 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 33775001 33806000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33799820 33874502 Gain Normal TaqMan assays 20972442 NOT_FOUND chr16 33802861 34050416 Copy number Lung cancer paired-end sequencing 18438408 LINC00273 chr16 33806001 33810000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33810001 33856500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33811001 33815300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 33843007 34316965 Gain Normal 244K array 17666407 LINC00273 chr16 33846173 33846260 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr16 33856501 33872000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 338645 3382037 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ABCA17P,ABCA3,AMDHD2,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf59,C16orf79,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CRAMP1L,DECR2,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM173A,FAM195A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GNG13,GNPTG,HAGH,HAGHL,HCFC1R1,HN1L,HS3ST6,IFT140,IGFALS,IL32,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC652276,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MRPL28,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPW,NTHL1,NTN3,NUBP2,OR1F1,OR1F2P,PAQR4,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SOLH,SOX8,SPSB3,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,THOC6,TIGD7,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZG16B,ZNF200,ZNF205,ZNF213,ZNF263,ZNF598,ZNF75A,ZSCAN10 chr16 33869153 33869267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33869998 33871862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33870018 33870652 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33870018 33870652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33872001 33878500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33872091 34191016 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 LINC00273 chr1 63387225 63388544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 33872927 33873078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33872927 33873078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 33872927 33873081 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33878501 33881000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33881001 33883500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33883501 33885500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 33885501 34040000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00273 chr16 33889259 33892284 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr16 3391245 3399361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3391245 3399361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3391264 3399363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 33913341 33913373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 3391421 3399365 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 33993894 35065456 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 FLJ26245,LOC100130700,LOC146481,LOC283914,RNA5SP411,UBE2MP1 chr16 339949 340518 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 AXIN1 chr16 339987 372234 Gain and loss Pancreatic cancer SNP array 17952125 AXIN1 chr16 34000000 39000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 FLJ26245,LOC100130700,LOC146481,LOC283914,RNA5SP411,UBE2MP1 chr16 34037267 34057303 Duplication Normal TaqMan assays 20972442 NOT_FOUND chr16 34040001 34054500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 34051610 34054322 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 34054501 34156500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 34054852 34162068 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr16 34065746 68640916 Copy number Lung cancer paired-end sequencing 18438408 ABCC11,ABCC12,ACD,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,ARL2BP,ATP6V0D1,B3GNT9,BBS2,BEAN1,BRD7,C16orf48,C16orf70,C16orf78,C16orf80,C16orf86,C16orf87,CA7,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH11,CDH16,CDH5,CDH8,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CIAPIN1,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,COQ9,CPNE2,CRNDE,CSNK2A2,CTCF,CTRL,CX3CL1,CYLD,DDX28,DKFZP434H168,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,FLJ26245,FTO,GFOD2,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HEATR3,HERPUD1,HSD11B2,HSF4,IRX3,IRX5,IRX6,ITFG1,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100130700,LOC100505619,LOC100505865,LOC100507577,LOC146481,LOC283856,LOC283867,LOC283914,LOC388276,LOC643714,LOC643802,LOC644649,LONP2,LPCAT2,LRRC29,LRRC36,MIR138-2,MIR328,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NAE1,NDRG4,NETO2,NFATC3,NKD1,NLRC5,NOD2,NOL3,NRN1L,NUDT21,NUP93,NUTF2,OGFOD1,ORC6,PAPD5,PARD6A,PDP2,PHKB,PLA2G15,PLEKHG4,PLLP,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RBL2,RLTPR,RNA5SP411,RPGRIP1L,RRAD,RSPRY1,SALL1,SETD6,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC6A2,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNX20,TEPP,THAP11,TK2,TMEM208,TOX3,TPPP3,TRADD,TSNAXIP1,UBE2MP1,USB1,VPS35,ZDHHC1,ZFP90,ZNF319,ZNF423 chr16 34113873 34116095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 34113873 34116095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34113873 34116095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34113873 34116095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34122782 34150129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34132039 34150129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34148031 45940899 Substitutions and indels small cell lung cancer array-CGH 20016488 FLJ26245,LOC100130700,LOC146481,LOC283914,RNA5SP411,UBE2MP1 chr16 34156501 34159000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 34159001 34173500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 63416635 63416818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34173501 34177000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 34194317 34194854 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 34198501 34202500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 34210062 34210843 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34215264 34490212 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 UBE2MP1 chr16 34215264 34627143 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC283914,UBE2MP1 chr16 34215264 34627143 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC283914,UBE2MP1 chr16 34219719 34464860 Indels Normal Affymetrix and Illumina arrays 20811451 UBE2MP1 chr16 34226376 34227262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34226376 34227262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34226469 34227265 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34231501 34244500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 342434 352533 Gain and loss Pancreatic cancer SNP array 17952125 AXIN1 chr16 34244501 34273000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 63424593 63424683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3426107 3433498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF434 chr16 3426107 3433498 Gain and loss Pancreatic cancer SNP array 17952125 ZNF434 chr16 3426107 3433498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF434 chr16 3426112 3433491 Deletion T-cell lymphomas Array-CGH 22341440 ZNF434 chr16 34261302 34262263 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 34261596 34262042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34273001 34280000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 3427616 3427716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 34280000 35280000 Gain Breast cancer aCGH 21509527 FLJ26245,LOC100130700,LOC146481,LOC283914,RNA5SP411,UBE2MP1 chr16 34280001 34324500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 34289152 34490212 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 UBE2MP1 chr16 34289152 34627143 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC283914,UBE2MP1 chr16 34301800 34632802 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34305375 34649292 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34307201 34614572 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 LOC283914,UBE2MP1 chr16 34313105 34346721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 34316526 34624994 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34316526 34632802 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 3431656 3522375 Copy number Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 NAA60,ZNF174,ZNF434,ZNF597 chr16 34317021 34615251 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC283914,UBE2MP1 chr16 34318608 34349423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 34320484 34611175 P11.1 Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC283914,UBE2MP1 chr16 34323915 34602359 Loss Normal 244K array 17666407 LOC283914,UBE2MP1 chr16 34324060 34560183 Duplication Normal Affymetrix 6.0 microarrays 20967226 UBE2MP1 chr16 34324060 34560183 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 UBE2MP1 chr16 34324060 34593714 Duplication Normal Affymetrix 6.0 microarrays 20967226 UBE2MP1 chr16 34324060 34597501 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 UBE2MP1 chr16 34324060 34609753 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34609753 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34613055 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34613055 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34614572 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34614572 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34618468 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34618468 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34622705 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34624994 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34625500 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34625500 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34625776 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34625776 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324060 34654789 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34324072 34613067 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC283914,UBE2MP1 chr16 34324072 34614568 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC283914,UBE2MP1 chr16 34324072 34614568 Gain Normal Birdsuite, version 1.5.2 22087296 LOC283914,UBE2MP1 chr16 34324072 34614572 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC283914,UBE2MP1 chr16 34324072 34625006 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC283914,UBE2MP1 chr16 34324072 34625497 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC283914,UBE2MP1 chr16 34324501 34328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 34326402 34550666 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 UBE2MP1 chr16 34328001 35071500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ26245,LOC100130700,LOC146481,LOC283914,RNA5SP411,UBE2MP1 chr16 34328205 34614572 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34328205 34618468 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34328205 34622705 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34328953 34614572 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34329310 34613055 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34329310 34614572 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34329310 34614572 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34337182 34548964 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE2MP1 chr16 3433736 3474856 Gain and loss Pancreatic cancer SNP array 17952125 ZNF174,ZNF434 chr16 3433736 3476954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF174,ZNF434 chr16 3433736 3476954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF174,ZNF434 chr16 34338956 34614572 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC283914,UBE2MP1 chr16 34344361 34560001 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 UBE2MP1 chr16 34344361 34614572 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC283914,UBE2MP1 chr16 34368364 34368465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34374408 34514555 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 UBE2MP1 chr16 34374795 34613055 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34374795 34614572 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34374795 34624994 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC283914,UBE2MP1 chr16 34381026 34381126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 34386141 34386200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 34393852 34613055 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC283914,UBE2MP1 chr16 34395947 34550255 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE2MP1 chr16 34399543 34539890 Duplication Rett syndrome References 21593744 UBE2MP1 chr16 34400000 38200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FLJ26245,LOC100130700,LOC146481,LOC283914,RNA5SP411,UBE2MP1 chr16 34420177 34420277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 3445140 3445240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF434 chr16 34476093 34627143 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 LOC283914 chr16 34476093 34627143 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC283914 chr16 34476094 88612553 Loss Prostate cancer Array CGH 18632612 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130700,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNA5SP411,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 3448079 3476953 Deletion T-cell lymphomas Array-CGH 22341440 ZNF174,ZNF434 chr16 3450129 3458874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF174,ZNF434 chr16 34538845 34539757 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 34538845 34539757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34538908 34539347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34543633 34543733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 3456501 3671500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf90,CLUAP1,NAA60,NLRC3,SLX4,ZNF174,ZNF597 chr16 34600000 36600000 Loss Autism References 18414403 FLJ26245,LOC100130700,LOC146481,LOC283914,RNA5SP411 chr16 34604268 34604368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283914 chr1 63461629 63461718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 34621097 34622406 Gain Normal 244K array 17666407 LOC283914 chr16 34635152 34635636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34635158 34635593 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34649292 88690776 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ26245,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130700,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146481,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNA5SP411,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 3469535 3485422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34734864 34736113 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 63476201 63482400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 63477202 63477385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 63477945 63480734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 348001 371500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AXIN1 chr16 34817172 34817252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 3481968 4752761 LOH Normal High-resolution SNP genotyping 21211785 ADCY9,ANKS3,C16orf5,C16orf90,C16orf96,CLUAP1,CORO7,CORO7-PAM16,CREBBP,DNAJA3,DNASE1,FAM100A,GLIS2,HMOX2,LOC100507501,MGRN1,NAA60,NLRC3,NMRAL1,NUDT16L1,PAM16,SLX4,SRL,TFAP4,TRAP1,VASN,ZNF597 chr16 3481968 4756157 LOH Normal High-resolution SNP genotyping 21211785 ADCY9,ANKS3,C16orf5,C16orf90,C16orf96,CLUAP1,CORO7,CORO7-PAM16,CREBBP,DNAJA3,DNASE1,FAM100A,GLIS2,HMOX2,LOC100507501,MGRN1,NAA60,NLRC3,NMRAL1,NUDT16L1,PAM16,SLX4,SRL,TFAP4,TRAP1,VASN,ZNF597 chr16 3481968 4765086 LOH Normal High-resolution SNP genotyping 21211785 ADCY9,ANKS3,C16orf5,C16orf90,C16orf96,CLUAP1,CORO7,CORO7-PAM16,CREBBP,DNAJA3,DNASE1,FAM100A,GLIS2,HMOX2,LOC100507501,MGRN1,NAA60,NLRC3,NMRAL1,NUDT16L1,PAM16,SLX4,SRL,TFAP4,TRAP1,VASN,ZNF597 chr16 34826513 34826620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34826781 34826856 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34826781 34826856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34827252 34827355 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34827252 34827355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34827764 34827858 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34827764 34827858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34828566 34828616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 3483485 3485461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3483485 3485461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34838125 34838243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34838125 34838243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34838694 34838768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34838694 34838768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34838906 34839014 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34838906 34839014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34840450 34840529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34840450 34840529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34840676 34840779 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34840676 34840779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34840927 34841030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34840927 34841030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34841188 34841281 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34841188 34841281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34841442 34841535 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34841442 34841535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34841685 34841787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34841685 34841787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34841940 34842042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34841940 34842042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34842702 34842796 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34842702 34842796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34843477 34843558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34843477 34843558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34844464 34844558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34844464 34844558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34846488 34846562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 34846488 34846562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 34872574 34879419 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 34879419 34916829 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 34894779 34895049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3490964 3526582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAA60,ZNF597 chr16 3490964 3526582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAA60,ZNF597 chr16 3491018 3526826 Gain and loss Pancreatic cancer SNP array 17952125 NAA60,ZNF597 chr16 34916555 34916655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 3491890 15170619 Duplication Intellectual disability Array CGH 22102821 ABAT,ABCC6P2,ADCY9,ALG1,ANKS3,ATF7IP2,BCAR4,BFAR,C16orf5,C16orf71,C16orf72,C16orf89,C16orf90,C16orf96,CARHSP1,CIITA,CLEC16A,CLUAP1,CORO7,CORO7-PAM16,CPPED1,CREBBP,DEXI,DNAJA3,DNASE1,EMP2,ERCC4,FAM100A,FAM18A,FAM86A,GLIS2,GLYR1,GRIN2A,GSPT1,HMOX2,LITAF,LOC100507501,LOC440335,METTL22,MGRN1,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR365A,MIR4718,MIR548X,MKL2,NAA60,NAGPA,NAGPA-AS1,NLRC3,NMRAL1,NOMO1,NPIP,NTAN1,NUBP1,NUDT16L1,PAM16,PARN,PDXDC1,PLA2G10,PMM2,PPL,PRM1,PRM2,PRM3,RBFOX1,RMI2,ROGDI,RRN3,RSL1D1,SEC14L5,SEPT12,SHISA9,SLX4,SNN,SNX29,SOCS1,SRL,TEKT5,TFAP4,TMEM114,TMEM186,TNFRSF17,TNP2,TRAP1,TXNDC11,UBN1,USP7,VASN,ZC3H7A,ZNF500,ZNF597 chr16 34941122 34954139 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr16 34988441 34988519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ26245 chr16 34993845 34993954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3499895 3527670 Deletion T-cell lymphomas Array-CGH 22341440 NAA60 chr1 63500372 63500966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 63500751 63502187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3501574 3534042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAA60 chr16 35036157 35036257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 35054181 35143083 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr16 35060000 50120000 Loss Acute lymphoblastic leukemia - 21339820 ABCC11,ABCC12,ANKRD26P1,C16orf78,C16orf87,CBLN1,CNEP1R1,DNAJA2,GPT2,HEATR3,ITFG1,LOC100507577,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,ORC6,PHKB,SHCBP1,SIAH1,VPS35,ZNF423 chr16 35062145 35141900 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr16 35071501 35143250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 35076815 35110851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 35091101 45008700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 63511452 63511512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 35185331 35185431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 635201 8847300 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DFFB,DNAJC11,DVL1,ERRFI1,ESPN,FAM132A,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LINC00115,LOC100129534,LOC100130417,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,PANK4,PARK7,PER3,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RERE,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UTS2,VAMP3,VWA1,WRAP73,ZBTB48 chr16 3522375 3631656 Loss Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 C16orf90,CLUAP1,NAA60,NLRC3,SLX4 chr1 63524001 63525500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 3529039 3567215 Gain and loss Pancreatic cancer SNP array 17952125 C16orf90,CLUAP1,NAA60 chr16 3529039 3567402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf90,CLUAP1,NAA60 chr16 3529039 3567402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf90,CLUAP1,NAA60 chr16 3531826 3567290 Deletion T-cell lymphomas Array-CGH 22341440 C16orf90,CLUAP1,NAA60 chr16 3535481 3535575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAA60 chr1 63545319 63614897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 63546396 63564792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 63554501 63561500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 63561318 63563385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 63561318 63563385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 63561501 63563000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 356928 360569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr16 356928 360569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr16 3571183 3584601 Deletion T-cell lymphomas Array-CGH 22341440 CLUAP1 chr16 3571187 3599247 Gain and loss Pancreatic cancer SNP array 17952125 CLUAP1,NLRC3 chr16 3571187 3601586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLUAP1,NLRC3 chr16 3571187 3601586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLUAP1,NLRC3 chr16 357397 360585 Gain and loss Pancreatic cancer SNP array 17952125 AXIN1 chr16 3586507 3823723 Deletion small cell lung cancer array-CGH 20016488 CLUAP1,CREBBP,DNASE1,NLRC3,SLX4,TRAP1 chr16 3588231 3820887 Substitutions and indels small cell lung cancer array-CGH 20016488 CLUAP1,CREBBP,DNASE1,NLRC3,SLX4,TRAP1 chr16 3589402 3903159 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CREBBP,DNASE1,NLRC3,SLX4,TRAP1 chr1 63598082 63599438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3604846 3860541 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 CREBBP,DNASE1,NLRC3,SLX4,TRAP1 chr1 63605886 63675464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00466 chr1 63605886 63675464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00466 chr1 63605886 63675466 Copy number Autism exome sequencing 22495311 LINC00466 chr1 63608956 78245151 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ACADM,AK4,AK5,ALG6,ANKRD13C,ASB17,C1orf141,C1orf173,CACHD1,CRYZ,CTH,DEPDC1,DIRAS3,DLEU2L,DNAJC6,EFCAB7,FOXD3,FPGT,FPGT-TNNI3K,GADD45A,GNG12,GNG12-AS1,HHLA3,IL12RB2,IL23R,INSL5,ITGB3BP,JAK1,LEPR,LEPROT,LHX8,LINC00466,LRRC40,LRRC7,LRRIQ3,MIER1,MIR101-1,MIR1262,MIR186,MIR3117,MIR3671,MIR4794,MSH4,NEGR1,NEGR1-IT1,PDE4B,PGM1,PIGK,PIN1P1,PTGER3,RABGGTB,RAVER2,ROR1,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TCTEX1D1,TNNI3K,TYW3,UBE2U,USP33,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 63618465 63700872 Gain and loss Pancreatic cancer SNP array 17952125 LINC00466 chr16 361861 371908 Gain and loss Pancreatic cancer SNP array 17952125 AXIN1 chr16 361865 371979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr16 361865 371979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr16 3624836 3625120 Gain and loss Pancreatic cancer SNP array 17952125 NLRC3 chr16 3624836 3625120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRC3 chr16 3624838 3625120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRC3 chr16 3629204 3629271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 63629337 63629487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00466 chr16 3630847 3654064 Gain and loss Pancreatic cancer SNP array 17952125 SLX4 chr16 3632940 3648096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLX4 chr16 3632940 3648096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLX4 chr16 3643986 3648097 Deletion T-cell lymphomas Array-CGH 22341440 SLX4 chr16 3646249 4247249 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ADCY9,CREBBP,DNASE1,SLX4,SRL,TRAP1 chr16 3648040 3707514 Deletion T-cell lymphomas Array-CGH 22341440 DNASE1,SLX4 chr16 3648040 3707521 Gain and loss Pancreatic cancer SNP array 17952125 DNASE1,SLX4 chr16 3648040 3707521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNASE1,SLX4 chr16 36600000 90354753 Loss Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 AARS,ABCC11,ABCC12,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AKTIP,AMFR,ANKRD11,ANKRD26P1,AP1G1,APRT,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CPNE7,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC400558,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PABPN1L,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RPL13,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF423,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 36600000 90354753 Loss Breast cancer Array CGH 16702952 AARS,ABCC11,ABCC12,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AKTIP,AMFR,ANKRD11,ANKRD26P1,AP1G1,APRT,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CPNE7,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC400558,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PABPN1L,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RPL13,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF423,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 36600000 90354753 Loss Medulloblastoma CGH 16968546 AARS,ABCC11,ABCC12,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AKTIP,AMFR,ANKRD11,ANKRD26P1,AP1G1,APRT,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CPNE7,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC400558,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PABPN1L,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RPL13,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF423,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 36600000 90354753 Loss Prostate cancer Affymetrix 250K SNP array 19242612 AARS,ABCC11,ABCC12,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AKTIP,AMFR,ANKRD11,ANKRD26P1,AP1G1,APRT,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CPNE7,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC400558,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PABPN1L,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RPL13,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF423,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 3665412 3667061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 3665474 3665975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3671501 3718000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNASE1,TRAP1 chr16 3672598 3726606 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 DNASE1,TRAP1 chr16 36766 2592859 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 ABCA17P,ABCA3,AMDHD2,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf59,C16orf79,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CRAMP1L,DDX11L10,DECR2,DNASE1L2,E4F1,ECI1,EME2,FAHD1,FAM173A,FAM195A,FBXL16,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HN1L,HS3ST6,IFT140,IGFALS,ITFG3,JMJD8,LINC00235,LINC00254,LMF1,LOC100134368,LUC7L,MAPK8IP3,MEIOB,METRN,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MPG,MRPL28,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,PDIA2,PDPK1,PGP,PIGQ,PKD1,POLR3K,PRR25,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TELO2,TMEM204,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZNF598 chr1 63679033 63761453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00466 chr1 63679033 63761453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00466 chr16 368130 369241 Gain and loss Pancreatic cancer SNP array 17952125 AXIN1 chr16 3685768 3713048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNASE1,TRAP1 chr1 6368973 6369061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOT7 chr16 369121 373249 Loss Normal 244K array 17666407 AXIN1 chr16 3692093 3693984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 37000 43625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 37000 43625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3703633 4253033 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ADCY9,CREBBP,DNASE1,SRL,TRAP1 chr1 63714403 63714463 Gain and loss Pancreatic cancer SNP array 17952125 LINC00466 chr16 371501 499500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AXIN1,DECR2,LOC100134368,MRPL28,NME4,RAB11FIP3,TMEM8A chr16 3715056 3870122 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 CREBBP,TRAP1 chr16 3715056 3870122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREBBP,TRAP1 chr16 3715056 3870122 Copy number Lung cancer - 20668451 CREBBP,TRAP1 chr16 3715056 3870122 Copy number Rubinstein-Taybi syndrome MLPA 22283845 CREBBP,TRAP1 chr16 3715056 3870122 Gain or loss Breast cancer - 20668451 CREBBP,TRAP1 chr16 3715056 3870122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREBBP,TRAP1 chr16 3715056 3870122 Gain or loss Cancer - 20668451 CREBBP,TRAP1 chr16 3715056 3870122 Gain or loss Lung cancer - 20668451 CREBBP,TRAP1 chr16 3715056 3870122 Gain or loss Ovarian cancer - 20668451 CREBBP,TRAP1 chr16 3715056 3870122 Gain or loss Pancreas cancer - 20668451 CREBBP,TRAP1 chr16 3715056 3870122 Gain or loss Prostate cancer - 20668451 CREBBP,TRAP1 chr16 3716570 3870712 Deletion T-cell lymphomas Array-CGH 22341440 CREBBP,TRAP1 chr16 3716572 3870712 Gain and loss Pancreatic cancer SNP array 17952125 CREBBP,TRAP1 chr16 3718001 3720000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRAP1 chr16 3720001 3726500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRAP1 chr16 372241 382961 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 AXIN1 chr16 3726327 3728439 Deletion Rubinstein-Taybi syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 TRAP1 chr1 63726909 63727274 Gain and loss Pancreatic cancer SNP array 17952125 LINC00466 chr1 63729851 63837565 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ALG6,FOXD3,LINC00466 chr1 63748722 63779246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00466 chr16 375620 396651 Gain and loss Pancreatic cancer SNP array 17952125 AXIN1 chr1 63761601 63810951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXD3,LINC00466 chr1 63761601 63810951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXD3,LINC00466 chr16 376764 377234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr16 376764 377234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr1 63770968 63837935 Gain and loss Pancreatic cancer SNP array 17952125 ALG6,FOXD3,LINC00466 chr16 3785706 3845786 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 CREBBP chr1 63787223 63788499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 63787223 63788499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 3798564 3798637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CREBBP chr16 38200000 88827254 Deletion Ewing's sarcoma CGH(Reference) 21437220 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 38200000 88827254 Deletion Ewing's sarcoma Karyotyping and CGH(Reference) 21437220 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 38200000 88827254 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 38200000 88827254 Deletion Normal - 20616218 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 38200000 88827254 Gain or loss Endometrial cancer CGH 22040021 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 38200000 88827254 LOH Breast cancer Illumina 111K SNP array 20837533 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 38200000 88827254 Loss Breast cancer aCGH 21264507 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 38200000 88827254 Loss Glioblastoma multiforme CGH 19960244 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 38200000 88827254 Loss Hepatocellular carcinoma CGH 22174799 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 3826527 3832131 Substitutions and indels small cell lung cancer array-CGH 20016488 CREBBP chr1 63831535 63898500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALG6 chr1 63831535 63898500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALG6 chr1 63833447 63833739 Gain and loss Pancreatic cancer SNP array 17952125 ALG6 chr16 3837219 18064779 Substitutions and indels small cell lung cancer array-CGH 20016488 ABAT,ABCC1,ABCC6,ABCC6P2,ADCY9,ALG1,ANKS3,ATF7IP2,BCAR4,BFAR,C16orf45,C16orf5,C16orf71,C16orf72,C16orf89,C16orf96,CARHSP1,CIITA,CLEC16A,CORO7,CORO7-PAM16,CPPED1,CREBBP,DEXI,DNAJA3,EMP2,ERCC4,FAM100A,FAM18A,FAM86A,FOPNL,GLIS2,GLYR1,GRIN2A,GSPT1,HMOX2,KIAA0430,LITAF,LOC100507501,LOC440335,METTL22,MGRN1,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4718,MIR484,MIR548X,MKL2,MPV17L,MYH11,NAGPA,NAGPA-AS1,NDE1,NMRAL1,NOMO1,NOMO3,NPIP,NTAN1,NUBP1,NUDT16L1,PAM16,PARN,PDXDC1,PKD1P1,PLA2G10,PMM2,PPL,PRM1,PRM2,PRM3,RBFOX1,RMI2,ROGDI,RRN3,RSL1D1,SEC14L5,SEPT12,SHISA9,SNN,SNX29,SOCS1,SRL,TEKT5,TFAP4,TMEM114,TMEM186,TNFRSF17,TNP2,TXNDC11,UBN1,USP7,VASN,XYLT1,ZC3H7A,ZNF500 chr16 3843862 3901296 Amplification or deletion Cancer Array CGH 17440070 CREBBP chr16 3857593 3857693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CREBBP chr16 3858275 3858502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CREBBP chr16 38600000 47000000 Deletion or duplication Autism Array CGH 19955444 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 38600000 47000000 Deletion or duplication Schizophrenia Array CGH 19955444 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 38600000 52600000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ABCC11,ABCC12,ADCY7,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CNEP1R1,CYLD,DNAJA2,GPT2,HEATR3,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,SALL1,SHCBP1,SIAH1,SNX20,TOX3,VPS35,ZNF423 chr16 38600000 52600000 Deletion Sudden cardiac death CGH 19188705 ABCC11,ABCC12,ADCY7,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CNEP1R1,CYLD,DNAJA2,GPT2,HEATR3,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,SALL1,SHCBP1,SIAH1,SNX20,TOX3,VPS35,ZNF423 chr16 38600000 56700000 Loss and deletion Multiple myeloma Array CGH 16616336 ABCC11,ABCC12,ADCY7,AKTIP,AMFR,ANKRD26P1,BBS2,BRD7,C16orf78,C16orf87,CAPNS2,CBLN1,CES1,CES1P1,CES1P2,CES5A,CHD9,CNEP1R1,CRNDE,CYLD,DKFZP434H168,DNAJA2,FTO,GNAO1,GPT2,HEATR3,IRX3,IRX5,IRX6,ITFG1,LOC100505619,LOC100507577,LOC283856,LOC388276,LOC643714,LOC643802,LONP2,LPCAT2,MIR3935,MIR548AE2,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1JP,MT1L,MT1M,MT2A,MT3,MT4,MYLK3,N4BP1,NETO2,NKD1,NOD2,NUDT21,OGFOD1,ORC6,PAPD5,PHKB,RBL2,RPGRIP1L,SALL1,SHCBP1,SIAH1,SLC6A2,SNX20,TOX3,VPS35,ZNF423 chr16 3862993 3941884 Deletion Autism - 20877625 CREBBP chr16 3862993 3941884 Deletion cryptorchidy - 20877625 CREBBP chr16 3862993 3941884 Deletion Deafness - 20877625 CREBBP chr16 3862993 3941884 Deletion epicanthic folds - 20877625 CREBBP chr16 3862993 3941884 Deletion Glaucoma - 20877625 CREBBP chr16 3862993 3941884 Deletion Hypotonia - 20877625 CREBBP chr16 3862993 3941884 Deletion Mental retardation - 20877625 CREBBP chr16 3862993 3941884 Deletion Mental retardation MLPA Pos 20877625 CREBBP chr16 3862993 3941884 Deletion Microcephaly - 20877625 CREBBP chr16 3862993 3941884 Deletion Nasal septum - 20877625 CREBBP chr16 3862993 3941884 Deletion short stature - 20877625 CREBBP chr16 386726 390754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr16 386726 390754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr16 3869501 3969500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CREBBP chr16 386962 953823 Gain Developmental delay Human whole genome oligonucleotide microarray kits 244K 21373258 AXIN1,C16orf11,C16orf13,CCDC78,CHTF18,DECR2,FAM173A,FAM195A,FBXL16,GNG13,HAGHL,JMJD8,LINC00235,LMF1,LOC100134368,METRN,MIR3176,MIR5587,MIR662,MRPL28,MSLN,NARFL,NHLRC4,NME4,PIGQ,PRR25,RAB11FIP3,RAB40C,RHBDL1,RHOT2,RPUSD1,SOLH,STUB1,TMEM8A,WDR24,WDR90,WFIKKN1 chr16 387193 390754 Gain and loss Pancreatic cancer SNP array 17952125 AXIN1 chr1 63874702 63946072 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALG6,ITGB3BP chr1 63881852 63938876 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALG6,ITGB3BP chr1 63890125 63940082 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALG6,ITGB3BP chr1 63894002 63894304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALG6 chr1 63894014 63894306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALG6 chr1 63897108 63940082 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALG6,ITGB3BP chr1 63899592 63962581 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALG6,ITGB3BP chr1 63899777 63946072 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALG6,ITGB3BP chr1 63899777 63951143 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALG6,ITGB3BP chr1 63914296 63940082 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ITGB3BP chr16 391859 402487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr16 391859 402487 Gain and loss Pancreatic cancer SNP array 17952125 AXIN1 chr16 391859 402487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AXIN1 chr1 63934113 63946072 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ITGB3BP chr1 6395065 6407317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT7 chr1 6395065 6407317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT7 chr1 63952110 64356559 Gain and loss Pancreatic cancer SNP array 17952125 DLEU2L,EFCAB7,ITGB3BP,PGM1,ROR1 chr16 3952658 4106187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY9 chr16 3952658 4106187 Gain and loss Pancreatic cancer SNP array 17952125 ADCY9 chr16 3952658 4106187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY9 chr16 3954907 4105460 Deletion T-cell lymphomas Array-CGH 22341440 ADCY9 chr1 63966407 63967011 Gain and loss Pancreatic cancer SNP array 17952125 ITGB3BP chr16 3969501 3976000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 3970735 3970775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 3976001 4173000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCY9 chr16 3976236 4010254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 3977969 3978019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 40000 40090000 Gain Ductal carcinoma SNP array 22052326 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 4007050 4007529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 6401001 6496500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACOT7,ESPN,HES2,MIR4252 chr1 64012281 64419769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLEU2L,EFCAB7,PGM1,ROR1 chr1 64012281 64419769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEU2L,EFCAB7,PGM1,ROR1 chr1 64020724 64021368 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB7 chr1 64026974 64027563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB7 chr16 40278841 40310908 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr16 4043 9448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4043 9448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4049592 4049677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY9 chr16 4060297 4095090 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADCY9 chr16 4065494 4095090 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADCY9 chr1 6406766 6418996 Gain and loss Pancreatic cancer SNP array 17952125 ACOT7 chr16 40700000 45500000 Copy number Normal - 20680643 NOT_FOUND chr16 40700000 88827254 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr1 6407434 6443591 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ACOT7 chr1 6407435 6443591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT7 chr1 6407435 6443591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT7 chr1 64081450 64081935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGM1 chr16 4084900 4129628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADCY9 chr1 64085438 64085538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGM1 chr16 4092 272577 Gain and loss Pancreatic cancer SNP array 17952125 DDX11L10,HBA1,HBA2,HBM,HBQ1,HBZ,LUC7L,MPG,NPRL3,POLR3K,RHBDF1,SNRNP25 chr1 64102260 64102358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGM1 chr1 64106348 64140746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PGM1 chr1 64113680 65009396 LOH Normal High-resolution SNP genotyping 21211785 CACHD1,PGM1,ROR1,UBE2U chr1 64124106 64218224 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PGM1 chr1 64124106 64237466 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PGM1 chr16 415620 512479 Gain and loss Pancreatic cancer SNP array 17952125 DECR2,LOC100134368,MRPL28,NME4,RAB11FIP3,TMEM8A chr16 415669 512479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DECR2,LOC100134368,MRPL28,NME4,RAB11FIP3,TMEM8A chr16 415669 512479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DECR2,LOC100134368,MRPL28,NME4,RAB11FIP3,TMEM8A chr1 64159507 64251193 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr1 64168850 64245244 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr1 64168850 64258795 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr1 64170250 64170350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 4173001 4307000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100507501,SRL chr16 4179378 4232077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4179378 4232077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4182105 4232077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 4182155 4243589 Deletion T-cell lymphomas Array-CGH 22341440 SRL chr1 64185136 64185229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6419114 6455255 Gain and loss Pancreatic cancer SNP array 17952125 ACOT7 chr1 64203603 64224291 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 64203603 64251193 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr1 64205211 64258795 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr1 64206587 64206693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 64219214 64220590 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 64222569 64222669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 64228699 64250300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr1 64244334 64244434 Gain and loss Pancreatic cancer SNP array 17952125 ROR1 chr1 64244335 64244434 Gain and loss Pancreatic cancer SNP array 17952125 ROR1 chr16 4247188 4263002 Deletion T-cell lymphomas Array-CGH 22341440 SRL chr16 4247189 4262935 Gain and loss Pancreatic cancer SNP array 17952125 SRL chr16 4247189 4263002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRL chr16 4247189 4263002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRL chr1 64257644 64257744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROR1 chr1 64267154 64267256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROR1 chr16 429298 429398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM8A chr16 429300 429397 Gain and loss Pancreatic cancer SNP array 17952125 TMEM8A chr16 429300 429398 Gain and loss Pancreatic cancer SNP array 17952125 TMEM8A chr1 64299346 64299446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROR1 chr16 43001 44500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 43010 47669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 43010 47669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4303072 4961262 LOH Normal High-resolution SNP genotyping 21211785 ANKS3,C16orf5,C16orf71,C16orf96,CORO7,CORO7-PAM16,DNAJA3,FAM100A,GLIS2,GLYR1,HMOX2,LOC100507501,LOC440335,MGRN1,NMRAL1,NUDT16L1,PAM16,PPL,ROGDI,SEPT12,TFAP4,UBN1,VASN,ZNF500 chr16 4304763 4329596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFAP4 chr16 4304763 4329596 Gain and loss Pancreatic cancer SNP array 17952125 TFAP4 chr16 4304763 4329596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFAP4 chr1 64304900 64305001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROR1 chr16 4307001 4315500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TFAP4 chr16 43075590 88440843 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR5093,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZNF19,ZNF23,ZNF319,ZNF423,ZNF821,ZNRF1 chr16 431054 10596531 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABAT,ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ATF7IP2,ATP6V0C,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf72,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CARHSP1,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,GRIN2A,HAGH,HAGHL,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC100507501,LOC440335,LOC652276,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR548X,MIR5587,MIR662,MIR940,MLST8,MMP25,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOXO1,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PMM2,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RBFOX1,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM114,TMEM186,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,USP7,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 431407 716119 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 C16orf11,C16orf13,DECR2,FAM195A,LINC00235,LOC100134368,MIR3176,MIR5587,NHLRC4,NME4,PIGQ,RAB11FIP3,RAB40C,SOLH,TMEM8A,WDR90,WFIKKN1 chr16 4315501 4359000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TFAP4 chr16 4322226 4327803 Deletion T-cell lymphomas Array-CGH 22341440 TFAP4 chr16 4330254 4341301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4330254 4341301 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 4330254 4341301 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 4330254 4341301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 433469 803070 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 C16orf11,C16orf13,CCDC78,DECR2,FAM173A,FAM195A,FBXL16,HAGHL,JMJD8,LINC00235,LOC100134368,METRN,MIR3176,MIR5587,NARFL,NHLRC4,NME4,PIGQ,RAB11FIP3,RAB40C,RHBDL1,RHOT2,SOLH,STUB1,WDR24,WDR90,WFIKKN1 chr16 4344546 4406572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CORO7,CORO7-PAM16,GLIS2,PAM16 chr16 4344546 4406572 Deletion T-cell lymphomas Array-CGH 22341440 CORO7,CORO7-PAM16,GLIS2,PAM16 chr16 4344546 4406572 Gain and loss Pancreatic cancer SNP array 17952125 CORO7,CORO7-PAM16,GLIS2,PAM16 chr16 4344546 4406572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO7,CORO7-PAM16,GLIS2,PAM16 chr16 4359001 4385500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GLIS2 chr16 4361850 4373527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 4361850 4373530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4361850 4373530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4361886 4374046 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr1 64372789 64372869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROR1 chr1 64381511 64422048 Gain and loss Pancreatic cancer SNP array 17952125 ROR1 chr16 4385139 4385189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLIS2 chr16 4385501 4392500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CORO7-PAM16,GLIS2,PAM16 chr1 64389169 64488417 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ROR1 chr16 4392501 4402500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CORO7-PAM16,PAM16 chr16 4402501 4501500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CORO7,CORO7-PAM16,DNAJA3,VASN chr16 441405 443462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100134368 chr16 4415854 4446774 Gain and loss Pancreatic cancer SNP array 17952125 CORO7,CORO7-PAM16,VASN chr16 4415883 4446774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CORO7,CORO7-PAM16,VASN chr16 4415883 4446774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO7,CORO7-PAM16,VASN chr16 4415883 4446777 Deletion T-cell lymphomas Array-CGH 22341440 CORO7,CORO7-PAM16,VASN chr1 6443798 6448855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT7 chr1 6443798 6448855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT7 chr1 64442078 64505479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ROR1 chr1 64442078 64505479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROR1 chr16 44501 48500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 4451204 4465283 Loss Normal Birdsuite, version 1.5.2 22087296 CORO7,CORO7-PAM16 chr16 4451694 4464897 Gain and loss Pancreatic cancer SNP array 17952125 CORO7,CORO7-PAM16 chr16 4451696 4464893 Deletion T-cell lymphomas Array-CGH 22341440 CORO7,CORO7-PAM16 chr16 4451697 4464897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CORO7,CORO7-PAM16 chr16 4451697 4464897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO7,CORO7-PAM16 chr1 64462278 64462378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROR1 chr16 4466381 4500349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CORO7,CORO7-PAM16,DNAJA3 chr16 4466381 4500349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO7,CORO7-PAM16,DNAJA3 chr16 4466426 4500348 Gain and loss Pancreatic cancer SNP array 17952125 CORO7,CORO7-PAM16,DNAJA3 chr1 64473482 64486353 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr16 447844 466641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DECR2,NME4 chr16 447905 487298 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DECR2,NME4,RAB11FIP3 chr1 6448739 6502708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT7,ESPN,HES2,MIR4252 chr1 6448739 6502708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT7,ESPN,HES2,MIR4252 chr16 4488148 4661988 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 C16orf5,C16orf96,DNAJA3,FAM100A,HMOX2,NMRAL1 chr16 44906907 45837474 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr16 44943250 44966500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 44943303 45001865 Gain Normal TaqMan assays 20972442 NOT_FOUND chr16 4495486 4500349 Deletion T-cell lymphomas Array-CGH 22341440 DNAJA3 chr16 44960498 46456625 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 44960498 46484435 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 44960498 46731496 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,ORC6,SHCBP1,VPS35 chr16 44960498 46947676 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 44960498 46951979 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 44960498 47022403 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 44960498 47028289 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 44960498 47033178 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 44960498 47041732 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 44960498 47048170 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 44960498 47112912 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,ORC6,SHCBP1,VPS35 chr16 44960498 47398568 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,ITFG1,MYLK3,NETO2,ORC6,SHCBP1,VPS35 chr16 44960498 47424881 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,ITFG1,MYLK3,NETO2,ORC6,SHCBP1,VPS35 chr16 44960498 47437945 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,ITFG1,MYLK3,NETO2,ORC6,SHCBP1,VPS35 chr16 44960498 47474343 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,ITFG1,MYLK3,NETO2,ORC6,SHCBP1,VPS35 chr16 44960498 47547570 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,ITFG1,MYLK3,NETO2,ORC6,PHKB,SHCBP1,VPS35 chr16 44960498 47929840 LOH Normal High-resolution SNP genotyping 21211785 ANKRD26P1,C16orf87,DNAJA2,GPT2,ITFG1,MYLK3,NETO2,ORC6,PHKB,SHCBP1,VPS35 chr16 44960498 68447613 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCC11,ABCC12,ACD,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,ARL2BP,ATP6V0D1,B3GNT9,BBS2,BEAN1,BRD7,C16orf48,C16orf70,C16orf78,C16orf80,C16orf86,C16orf87,CA7,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH11,CDH16,CDH5,CDH8,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CIAPIN1,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,COQ9,CPNE2,CRNDE,CSNK2A2,CTCF,CTRL,CX3CL1,CYLD,DDX28,DKFZP434H168,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,FTO,GFOD2,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HEATR3,HERPUD1,HSD11B2,HSF4,IRX3,IRX5,IRX6,ITFG1,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100505619,LOC100505865,LOC100507577,LOC283856,LOC283867,LOC388276,LOC643714,LOC643802,LOC644649,LONP2,LPCAT2,LRRC29,LRRC36,MIR138-2,MIR328,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NAE1,NDRG4,NETO2,NFATC3,NKD1,NLRC5,NOD2,NOL3,NRN1L,NUDT21,NUP93,NUTF2,OGFOD1,ORC6,PAPD5,PARD6A,PDP2,PHKB,PLA2G15,PLEKHG4,PLLP,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RBL2,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SETD6,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC6A2,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNX20,TEPP,THAP11,TK2,TMEM208,TOX3,TPPP3,TRADD,TSNAXIP1,USB1,VPS35,ZDHHC1,ZNF319,ZNF423 chr16 44960498 88827254 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 44966501 44993000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 44981416 45000453 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 44993001 45014000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 45000813 45007524 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 45001866 45016317 Gain Normal TaqMan assays 20972442 NOT_FOUND chr16 4500302 4937324 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ANKS3,C16orf5,C16orf71,C16orf96,DNAJA3,FAM100A,GLYR1,HMOX2,LOC440335,MGRN1,NMRAL1,NUDT16L1,PPL,ROGDI,SEPT12,UBN1,ZNF500 chr16 4500677 4528817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJA3,HMOX2,NMRAL1 chr16 4500677 4528817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJA3,HMOX2,NMRAL1 chr16 4500742 4504857 Deletion T-cell lymphomas Array-CGH 22341440 DNAJA3 chr16 4501501 4504000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAJA3 chr16 4502414 4528775 Gain and loss Pancreatic cancer SNP array 17952125 DNAJA3,HMOX2,NMRAL1 chr16 45035000 45055115 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr16 4504001 4600000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf5,DNAJA3,HMOX2,NMRAL1 chr16 45063169 45160510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45063169 45160510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45063169 45160510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45065445 58461486 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ABCC11,ABCC12,ADCY7,AKTIP,AMFR,ANKRD26P1,ARL2BP,BBS2,BRD7,C16orf78,C16orf80,C16orf87,CAPNS2,CBLN1,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,CNEP1R1,CNGB1,COQ9,CPNE2,CRNDE,CSNK2A2,CX3CL1,CYLD,DKFZP434H168,DNAJA2,DOK4,FAM192A,FTO,GINS3,GNAO1,GPR114,GPR56,GPR97,GPT2,HEATR3,HERPUD1,IRX3,IRX5,IRX6,ITFG1,KATNB1,KIFC3,LOC100505619,LOC100507577,LOC283856,LOC388276,LOC643714,LOC643802,LONP2,LPCAT2,MIR138-2,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NETO2,NKD1,NLRC5,NOD2,NUDT21,NUP93,OGFOD1,ORC6,PAPD5,PHKB,PLLP,POLR2C,PRSS54,RBL2,RPGRIP1L,RSPRY1,SALL1,SHCBP1,SIAH1,SLC12A3,SLC6A2,SNX20,TEPP,TOX3,USB1,VPS35,ZNF319,ZNF423 chr16 45065445 58461486 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1073K arrays 21546498 ABCC11,ABCC12,ADCY7,AKTIP,AMFR,ANKRD26P1,ARL2BP,BBS2,BRD7,C16orf78,C16orf80,C16orf87,CAPNS2,CBLN1,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,CNEP1R1,CNGB1,COQ9,CPNE2,CRNDE,CSNK2A2,CX3CL1,CYLD,DKFZP434H168,DNAJA2,DOK4,FAM192A,FTO,GINS3,GNAO1,GPR114,GPR56,GPR97,GPT2,HEATR3,HERPUD1,IRX3,IRX5,IRX6,ITFG1,KATNB1,KIFC3,LOC100505619,LOC100507577,LOC283856,LOC388276,LOC643714,LOC643802,LONP2,LPCAT2,MIR138-2,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NETO2,NKD1,NLRC5,NOD2,NUDT21,NUP93,OGFOD1,ORC6,PAPD5,PHKB,PLLP,POLR2C,PRSS54,RBL2,RPGRIP1L,RSPRY1,SALL1,SHCBP1,SIAH1,SLC12A3,SLC6A2,SNX20,TEPP,TOX3,USB1,VPS35,ZNF319,ZNF423 chr16 45065445 88690776 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 45066024 88642986 Loss Normal Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 45086927 88827254 Loss Wilms tumour 250K Genotyping Arrays 21544195 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr1 64509603 67945852 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AK4,C1orf141,CACHD1,DNAJC6,IL12RB2,IL23R,INSL5,JAK1,LEPR,LEPROT,MIER1,MIR101-1,MIR3117,MIR3671,MIR4794,PDE4B,RAVER2,ROR1,SERBP1,SGIP1,SLC35D1,TCTEX1D1,UBE2U,WDR78 chr16 45147502 45147604 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45147502 45147604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45147503 45147608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45161314 60438774 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC11,ABCC12,ADCY7,AKTIP,AMFR,ANKRD26P1,ARL2BP,BBS2,BRD7,C16orf78,C16orf80,C16orf87,CAPNS2,CBLN1,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,CNEP1R1,CNGB1,CNOT1,COQ9,CPNE2,CRNDE,CSNK2A2,CX3CL1,CYLD,DKFZP434H168,DNAJA2,DOK4,FAM192A,FTO,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HEATR3,HERPUD1,IRX3,IRX5,IRX6,ITFG1,KATNB1,KIFC3,LOC100505619,LOC100507577,LOC283856,LOC388276,LOC643714,LOC643802,LOC644649,LONP2,LPCAT2,MIR138-2,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NDRG4,NETO2,NKD1,NLRC5,NOD2,NUDT21,NUP93,OGFOD1,ORC6,PAPD5,PHKB,PLLP,POLR2C,PRSS54,RBL2,RPGRIP1L,RSPRY1,SALL1,SETD6,SHCBP1,SIAH1,SLC12A3,SLC38A7,SLC6A2,SNORA46,SNORA50,SNX20,TEPP,TOX3,USB1,VPS35,ZNF319,ZNF423 chr16 45162964 45163445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45171968 45212812 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 45171978 45212785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45171978 45212785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45171978 45212785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45172598 88651780 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 45188242 57139961 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCC11,ABCC12,ADCY7,AKTIP,AMFR,ANKRD26P1,BBS2,BRD7,C16orf78,C16orf87,CAPNS2,CBLN1,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CNEP1R1,CPNE2,CRNDE,CYLD,DKFZP434H168,DNAJA2,FTO,GNAO1,GPT2,HEATR3,HERPUD1,IRX3,IRX5,IRX6,ITFG1,LOC100505619,LOC100507577,LOC283856,LOC388276,LOC643714,LOC643802,LONP2,LPCAT2,MIR138-2,MIR3935,MIR548AE2,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NETO2,NKD1,NLRC5,NOD2,NUDT21,NUP93,OGFOD1,ORC6,PAPD5,PHKB,RBL2,RPGRIP1L,SALL1,SHCBP1,SIAH1,SLC12A3,SLC6A2,SNX20,TOX3,VPS35,ZNF423 chr16 45188242 88552724 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 45217817 45218398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45217817 45218654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45221950 45222452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 45251095 45280593 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45251095 45280645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45251095 45280645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4526126 4925910 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKS3,C16orf5,C16orf71,C16orf96,FAM100A,GLYR1,HMOX2,LOC440335,MGRN1,NUDT16L1,ROGDI,SEPT12,UBN1,ZNF500 chr1 64527014 64527112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROR1 chr16 45280263 45281016 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr16 45281059 45289806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45281059 45289806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45281059 45289806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45293694 45339722 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 45293695 45339722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45293695 45339722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45298960 45339722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45318501 45342000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 64532975 64558427 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr16 45348001 45350000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 45369001 45370000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 45393460 45422575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45393460 45422575 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45393460 45422575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45413780 45607724 Gain Bladder cancer array-CGH 21909424 NOT_FOUND chr16 45430744 45517486 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 45434041 45435998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45434044 45436033 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 64545374 64558427 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROR1 chr16 4546491 4590318 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C16orf5,HMOX2 chr16 4546492 4565480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf5,HMOX2 chr16 4546492 4565480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf5,HMOX2 chr16 4546492 4590441 Deletion T-cell lymphomas Array-CGH 22341440 C16orf5,HMOX2 chr16 45475001 45522000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 45475809 45522699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45475809 45522699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45475809 45522699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 454770 4505811 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 ABCA17P,ABCA3,ADCY9,AMDHD2,ATP6V0C,BAIAP3,C16orf11,C16orf13,C16orf59,C16orf79,C16orf90,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DECR2,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM173A,FAM195A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GNG13,GNPTG,HAGH,HAGHL,HCFC1R1,HN1L,HS3ST6,IFT140,IGFALS,IL32,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100507501,LOC652276,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NOXO1,NPW,NTHL1,NTN3,NUBP2,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 45500000 51200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC11,ABCC12,ADCY7,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CNEP1R1,CYLD,DNAJA2,GPT2,HEATR3,ITFG1,LOC100507577,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,SALL1,SHCBP1,SIAH1,SNX20,VPS35,ZNF423 chr16 45500000 51200000 Copy number Normal - 20680643 ABCC11,ABCC12,ADCY7,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CNEP1R1,CYLD,DNAJA2,GPT2,HEATR3,ITFG1,LOC100507577,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,SALL1,SHCBP1,SIAH1,SNX20,VPS35,ZNF423 chr16 45500000 51200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC11,ABCC12,ADCY7,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CNEP1R1,CYLD,DNAJA2,GPT2,HEATR3,ITFG1,LOC100507577,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,SALL1,SHCBP1,SIAH1,SNX20,VPS35,ZNF423 chr16 45500000 54500000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCC11,ABCC12,ADCY7,AKTIP,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CHD9,CNEP1R1,CYLD,DNAJA2,FTO,GPT2,HEATR3,IRX3,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LOC643802,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,RBL2,RPGRIP1L,SALL1,SHCBP1,SIAH1,SNX20,TOX3,VPS35,ZNF423 chr16 45500000 54500000 Loss Malignant fibrous histiocytomas aCGH 21085701 ABCC11,ABCC12,ADCY7,AKTIP,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CHD9,CNEP1R1,CYLD,DNAJA2,FTO,GPT2,HEATR3,IRX3,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LOC643802,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,RBL2,RPGRIP1L,SALL1,SHCBP1,SIAH1,SNX20,TOX3,VPS35,ZNF423 chr16 45500000 69400000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCC11,ABCC12,ACD,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,ARL2BP,ATP6V0D1,B3GNT9,BBS2,BEAN1,BRD7,C16orf48,C16orf70,C16orf78,C16orf80,C16orf86,C16orf87,CA7,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,COG8,COQ9,CPNE2,CRNDE,CSNK2A2,CTCF,CTRL,CX3CL1,CYLD,DDX28,DKFZP434H168,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,FTO,GFOD2,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HSD11B2,HSF4,IRX3,IRX5,IRX6,ITFG1,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100505619,LOC100505865,LOC100507577,LOC283856,LOC283867,LOC388276,LOC643714,LOC643802,LOC644649,LONP2,LPCAT2,LRRC29,LRRC36,MIR138-2,MIR328,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NAE1,NDRG4,NETO2,NFATC3,NIP7,NKD1,NLRC5,NOD2,NOL3,NRN1L,NUDT21,NUP93,NUTF2,OGFOD1,ORC6,PAPD5,PARD6A,PDF,PDP2,PHKB,PLA2G15,PLEKHG4,PLLP,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RBL2,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SETD6,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC6A2,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNTB2,SNX20,TEPP,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TOX3,TPPP3,TRADD,TSNAXIP1,USB1,VPS35,VPS4A,ZDHHC1,ZFP90,ZNF319,ZNF423 chr16 45500000 73300000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AARS,ABCC11,ABCC12,ACD,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATP6V0D1,ATXN1L,B3GNT9,BBS2,BEAN1,BRD7,C16orf48,C16orf70,C16orf78,C16orf80,C16orf86,C16orf87,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CHST4,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18C,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,COG4,COG8,COQ9,CPNE2,CRNDE,CSNK2A2,CTCF,CTRL,CX3CL1,CYB5B,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,FTO,FTSJD1,FUK,GFOD2,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSD11B2,HSF4,HTA,HYDIN,IL34,IRX3,IRX5,IRX6,IST1,ITFG1,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100507577,LOC283856,LOC283867,LOC388276,LOC643714,LOC643802,LOC644649,LONP2,LPCAT2,LRRC29,LRRC36,MARVELD3,MIR138-2,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTSS1L,MYLK3,N4BP1,NAE1,NDRG4,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUP93,NUTF2,OGFOD1,ORC6,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PKD1L3,PLA2G15,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RBL2,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC6A2,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,TAT,TEPP,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,VAC14,VPS35,VPS4A,WWP2,ZDHHC1,ZFHX3,ZFP90,ZNF19,ZNF23,ZNF319,ZNF423,ZNF821 chr16 45500000 88827254 Deletion Medulloblastoma SNP arrays 21979893 AARS,ABCC11,ABCC12,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf87,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MYLK3,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,ORC6,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS35,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 45516512 45516873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45516512 45516873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45526921 45527164 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45546775 45565126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45546775 45565126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 6455477 6460533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45547801 45565079 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45558994 45559580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45597094 45598005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 64562101 64562164 Gain and loss Pancreatic cancer SNP array 17952125 ROR1 chr16 45672942 45735409 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 45672943 45735409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45672943 45735409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45672943 45735409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 64572790 64572890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROR1 chr16 45741763 45741978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45746801 46052519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45746815 46052519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45746815 46052519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45780566 46216218 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr16 45837474 47162827 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,NETO2,ORC6,SHCBP1,VPS35 chr16 4584460 4584920 Gain Normal 244K array 17666407 C16orf5 chr16 45862453 45896271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 45874367 46163788 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 45904439 45904533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 45904441 45904533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 45948135 54344559 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCC11,ABCC12,ADCY7,AKTIP,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CHD9,CNEP1R1,CYLD,DNAJA2,FTO,GPT2,HEATR3,IRX3,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LOC643802,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,RBL2,RPGRIP1L,SALL1,SHCBP1,SIAH1,SNX20,TOX3,VPS35,ZNF423 chr16 45956961 47166656 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD26P1,C16orf87,DNAJA2,GPT2,MYLK3,NETO2,ORC6,SHCBP1,VPS35 chr16 4598887 4604871 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 4598887 4604928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4598887 4604928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 4598887 4604928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4600001 4605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 46041757 46041873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 46041759 46041873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 46052739 46291657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 46052739 46291657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 46052739 46291760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 4605501 4666000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf96,FAM100A chr16 46096131 46096800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 46096131 46096800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 46096844 46096935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 46096844 46096935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 46096844 46096955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 6461449 6514335 Gain and loss Pancreatic cancer SNP array 17952125 ESPN,HES2,MIR4252 chr16 4614854 4680972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf96,FAM100A,MGRN1 chr16 4614854 4680972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf96,FAM100A,MGRN1 chr16 4614854 4680974 Deletion T-cell lymphomas Array-CGH 22341440 C16orf96,FAM100A,MGRN1 chr16 4614870 4680975 Gain and loss Pancreatic cancer SNP array 17952125 C16orf96,FAM100A,MGRN1 chr1 64615315 64624133 Loss Normal Birdsuite, version 1.5.2 22087296 ROR1 chr16 46203946 54988902 Loss Prostate cancer Array CGH 18632612 ABCC11,ABCC12,ADCY7,AKTIP,ANKRD26P1,BRD7,C16orf78,C16orf87,CBLN1,CHD9,CNEP1R1,CRNDE,CYLD,DNAJA2,FTO,GPT2,HEATR3,IRX3,IRX5,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LOC643802,LONP2,MIR548AE2,MYLK3,N4BP1,NETO2,NKD1,NOD2,ORC6,PAPD5,PHKB,RBL2,RPGRIP1L,SALL1,SHCBP1,SIAH1,SNX20,TOX3,VPS35,ZNF423 chr16 46317943 46351517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 64639461 64639561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROR1 chr16 4645253 4645324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf96 chr16 4648853 4649153 Gain and loss Pancreatic cancer SNP array 17952125 C16orf96 chr16 4648853 4649153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf96 chr16 46520000 58150000 Loss Breast cancer aCGH 21509527 ABCC11,ABCC12,ADCY7,AKTIP,AMFR,ANKRD26P1,ARL2BP,BBS2,BRD7,C16orf78,C16orf80,C16orf87,CAPNS2,CBLN1,CCDC102A,CCDC135,CCL17,CCL22,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,CNEP1R1,CNGB1,COQ9,CPNE2,CRNDE,CX3CL1,CYLD,DKFZP434H168,DNAJA2,DOK4,FAM192A,FTO,GNAO1,GPR114,GPR56,GPR97,GPT2,HEATR3,HERPUD1,IRX3,IRX5,IRX6,ITFG1,KATNB1,KIFC3,LOC100505619,LOC100507577,LOC283856,LOC388276,LOC643714,LOC643802,LONP2,LPCAT2,MIR138-2,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NETO2,NKD1,NLRC5,NOD2,NUDT21,NUP93,OGFOD1,ORC6,PAPD5,PHKB,PLLP,POLR2C,RBL2,RPGRIP1L,RSPRY1,SALL1,SHCBP1,SIAH1,SLC12A3,SLC6A2,SNX20,TEPP,TOX3,USB1,VPS35,ZNF319,ZNF423 chr16 46548299 69323131 Loss Bladder cancer array-CGH 21909424 ABCC11,ABCC12,ACD,ADCY7,AGRP,AKTIP,AMFR,ANKRD26P1,ARL2BP,ATP6V0D1,B3GNT9,BBS2,BEAN1,BRD7,C16orf48,C16orf70,C16orf78,C16orf80,C16orf86,C16orf87,CA7,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,COQ9,CPNE2,CRNDE,CSNK2A2,CTCF,CTRL,CX3CL1,CYLD,DDX28,DKFZP434H168,DNAJA2,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,FTO,GFOD2,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,GPT2,HAS3,HEATR3,HERPUD1,HSD11B2,HSF4,IRX3,IRX5,IRX6,ITFG1,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100505619,LOC100505865,LOC100507577,LOC283856,LOC283867,LOC388276,LOC643714,LOC643802,LOC644649,LONP2,LPCAT2,LRRC29,LRRC36,MIR138-2,MIR328,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MYLK3,N4BP1,NAE1,NDRG4,NETO2,NFATC3,NKD1,NLRC5,NOD2,NOL3,NRN1L,NUDT21,NUP93,NUTF2,OGFOD1,ORC6,PAPD5,PARD6A,PDP2,PHKB,PLA2G15,PLEKHG4,PLLP,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RBL2,RLTPR,RPGRIP1L,RRAD,RSPRY1,SALL1,SETD6,SHCBP1,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC6A2,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNTB2,SNX20,TEPP,THAP11,TK2,TMCO7,TMEM208,TOX3,TPPP3,TRADD,TSNAXIP1,USB1,VPS35,ZDHHC1,ZFP90,ZNF319,ZNF423 chr16 46593372 46638042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD26P1,SHCBP1 chr16 46624169 46633001 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SHCBP1 chr16 46625338 46625438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHCBP1 chr16 4663914 4664013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM100A chr16 4666001 4689000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MGRN1 chr16 46674385 46738182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYLK3,ORC6,VPS35 chr16 46674385 46738182 Gain and loss Pancreatic cancer SNP array 17952125 MYLK3,ORC6,VPS35 chr16 46674385 46738182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYLK3,ORC6,VPS35 chr16 46693588 46723143 Deletion Prostate cancer aCGH 22341455 VPS35 chr16 46723557 46732305 Deletion Prostate cancer aCGH 22341455 ORC6 chr16 46736193 46782220 Deletion Prostate cancer aCGH 22341455 MYLK3 chr16 46758322 46826589 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MYLK3 chr16 46758322 46838806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf87,MYLK3 chr16 46758322 46838806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf87,MYLK3 chr16 46758323 46838806 Gain and loss Pancreatic cancer SNP array 17952125 C16orf87,MYLK3 chr16 46835712 46944908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf87,GPT2 chr16 46835712 46944908 Gain and loss Pancreatic cancer SNP array 17952125 C16orf87,GPT2 chr16 46835712 46944908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf87,GPT2 chr16 46835958 46865073 Deletion Prostate cancer aCGH 22341455 C16orf87 chr1 64683619 64870762 Gain and loss Pancreatic cancer SNP array 17952125 UBE2U chr16 4683717 4685846 Deletion T-cell lymphomas Array-CGH 22341440 MGRN1 chr16 4683717 4685846 Gain and loss Pancreatic cancer SNP array 17952125 MGRN1 chr16 4683717 4685857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGRN1 chr16 4683717 4685857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGRN1 chr1 64686153 64723783 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE2U chr16 4686514 4720151 Gain and loss Pancreatic cancer SNP array 17952125 MGRN1 chr16 4686514 4724164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGRN1 chr16 4686514 4724164 Deletion T-cell lymphomas Array-CGH 22341440 MGRN1 chr16 4686514 4724164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGRN1 chr1 64686637 64737925 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE2U chr1 64687075 64760497 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBE2U chr16 46886938 47037255 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DNAJA2,GPT2 chr16 4689001 4924000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKS3,C16orf71,GLYR1,LOC440335,MGRN1,NUDT16L1,ROGDI,SEPT12,UBN1,ZNF500 chr16 46895873 46895962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 46918307 46965200 Deletion Prostate cancer aCGH 22341455 GPT2 chr16 46935256 46935356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPT2 chr16 46951943 46976730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPT2 chr16 46951943 46976730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPT2 chr16 46951950 46976717 Gain and loss Pancreatic cancer SNP array 17952125 GPT2 chr16 46955462 46955561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPT2 chr1 64695770 65665163 LOH Normal High-resolution SNP genotyping 21211785 AK4,CACHD1,JAK1,MIR101-1,MIR3671,MIR4794,RAVER2,UBE2U chr16 46989273 47007624 Deletion Prostate cancer aCGH 22341455 DNAJA2 chr16 46989 54013 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr16 47000000 52600000 Deletion Colorectal cancer GISTIC software 19359472 ABCC11,ABCC12,ADCY7,BRD7,C16orf78,CBLN1,CNEP1R1,CYLD,DNAJA2,HEATR3,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LONP2,MIR548AE2,N4BP1,NETO2,NKD1,NOD2,PAPD5,PHKB,SALL1,SIAH1,SNX20,TOX3,ZNF423 chr16 47000000 52600000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ABCC11,ABCC12,ADCY7,BRD7,C16orf78,CBLN1,CNEP1R1,CYLD,DNAJA2,HEATR3,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LONP2,MIR548AE2,N4BP1,NETO2,NKD1,NOD2,PAPD5,PHKB,SALL1,SIAH1,SNX20,TOX3,ZNF423 chr16 47000000 52600000 Loss Prostate cancer Array CGH 16461572 ABCC11,ABCC12,ADCY7,BRD7,C16orf78,CBLN1,CNEP1R1,CYLD,DNAJA2,HEATR3,ITFG1,LOC100505619,LOC100507577,LOC388276,LOC643714,LONP2,MIR548AE2,N4BP1,NETO2,NKD1,NOD2,PAPD5,PHKB,SALL1,SIAH1,SNX20,TOX3,ZNF423 chr16 47000000 56700000 Loss Prostate cancer Array CGH 16461572 ABCC11,ABCC12,ADCY7,AKTIP,AMFR,BBS2,BRD7,C16orf78,CAPNS2,CBLN1,CES1,CES1P1,CES1P2,CES5A,CHD9,CNEP1R1,CRNDE,CYLD,DKFZP434H168,DNAJA2,FTO,GNAO1,HEATR3,IRX3,IRX5,IRX6,ITFG1,LOC100505619,LOC100507577,LOC283856,LOC388276,LOC643714,LOC643802,LONP2,LPCAT2,MIR3935,MIR548AE2,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1JP,MT1L,MT1M,MT2A,MT3,MT4,N4BP1,NETO2,NKD1,NOD2,NUDT21,OGFOD1,PAPD5,PHKB,RBL2,RPGRIP1L,SALL1,SIAH1,SLC6A2,SNX20,TOX3,ZNF423 chr16 47000000 90354753 Loss Breast cancer BAC-arrays 17001317 AARS,ABCC11,ABCC12,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AKTIP,AMFR,ANKRD11,AP1G1,APRT,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CPNE7,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC400558,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PABPN1L,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RPL13,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF423,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 47000000 90354753 Loss Breast cancer Microarray-based CGH 17133270 AARS,ABCC11,ABCC12,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AKTIP,AMFR,ANKRD11,AP1G1,APRT,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFA2T3,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CPNE7,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAJA2,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100507577,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC400558,LOC643714,LOC643802,LOC644649,LOC732275,LONP2,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MIR548AE2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,N4BP1,NAE1,NDRG4,NECAB2,NETO2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PABPN1L,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHKB,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RPL13,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF423,ZNF469,ZNF778,ZNF821,ZNRF1 chr1 64700722 64700754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2U chr16 470380 593863 Gain Normal Birdsuite, version 1.5.2 22087296 LINC00235,MIR3176,MIR5587,RAB11FIP3,SOLH chr16 47065101 47070800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 47068099 47084495 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 47076844 47076919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 470778 471088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 4708401 4714000 Deletion Glioma mate-paired sequence 20126413 MGRN1 chr1 64708701 64708810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2U chr1 64708705 65215142 LOH Normal High-resolution SNP genotyping 21211785 CACHD1,MIR4794,RAVER2,UBE2U chr1 64708705 65665163 LOH Normal High-resolution SNP genotyping 21211785 AK4,CACHD1,JAK1,MIR101-1,MIR3671,MIR4794,RAVER2,UBE2U chr16 47088079 47090024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 47088085 47090015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 64709063 64931329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBE2U chr1 64709063 64931329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2U chr16 47095681 47095781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 4710525 4711967 Gain Normal 244K array 17666407 MGRN1 chr16 47110663 47110763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 47115441 47177907 Deletion Prostate cancer aCGH 22341455 NETO2 chr16 47129808 47133420 Gain Normal 244K array 17666407 NETO2 chr16 47130140 47201621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITFG1,NETO2 chr16 47130140 47201621 Gain and loss Pancreatic cancer SNP array 17952125 ITFG1,NETO2 chr16 47130140 47201621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITFG1,NETO2 chr1 64716205 64730649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 47162827 48318986 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC11,ABCC12,ITFG1,LONP2,MIR548AE2,NETO2,PHKB chr16 47189296 47495017 Deletion Prostate cancer aCGH 22341455 ITFG1 chr16 47195961 47196058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITFG1 chr16 47242743 47242835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITFG1 chr16 4724290 4739396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGRN1 chr16 4724290 4739396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGRN1 chr16 4724322 4739396 Gain and loss Pancreatic cancer SNP array 17952125 MGRN1 chr16 47249794 47249895 Gain and loss Pancreatic cancer SNP array 17952125 ITFG1 chr16 47249794 47249895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITFG1 chr16 47277824 47312102 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITFG1 chr16 47323116 47323209 Gain and loss Pancreatic cancer SNP array 17952125 ITFG1 chr16 47323116 47323209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITFG1 chr16 47323116 47323213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITFG1 chr1 647328 650150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 47336229 47336307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITFG1 chr16 47340753 50277074 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1070K arrays 21546498 ABCC11,ABCC12,C16orf78,CBLN1,CNEP1R1,HEATR3,ITFG1,LOC100507577,LONP2,MIR548AE2,N4BP1,PAPD5,PHKB,SIAH1,ZNF423 chr16 47374369 47374686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITFG1 chr16 4740816 4755980 Gain and loss Pancreatic cancer SNP array 17952125 ANKS3,MGRN1,NUDT16L1 chr16 4740816 4757167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS3,MGRN1,NUDT16L1 chr16 4740816 4757167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS3,MGRN1,NUDT16L1 chr1 64740868 64740965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 47425529 48745471 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ABCC11,ABCC12,ITFG1,LOC100507577,LONP2,MIR548AE2,N4BP1,PHKB,SIAH1 chr16 47460682 47505335 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITFG1,PHKB chr16 47462794 47463730 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ITFG1 chr16 47462888 47464131 Gain Normal 244K array 17666407 ITFG1 chr16 47472180 47473105 Gain Normal 244K array 17666407 ITFG1 chr16 47495209 47735433 Deletion Prostate cancer aCGH 22341455 PHKB chr16 47497563 47497663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHKB chr16 475469 502039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB11FIP3 chr16 47572359 47572459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHKB chr16 4759050 48663678 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,AHSP,ALDOA,ALG1,ANKRD26P1,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATXN2L,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf45,C16orf52,C16orf53,C16orf54,C16orf58,C16orf62,C16orf71,C16orf72,C16orf82,C16orf87,C16orf88,C16orf89,C16orf92,C16orf93,CACNG3,CARHSP1,CCDC101,CCP110,CD19,CD2BP2,CDIPT,CDR2,CHP2,CIITA,CLEC16A,CLEC19A,CLN3,COG7,COQ7,CORO1A,COX6A2,CPPED1,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DEXI,DNAH3,DNAJA2,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,EMP2,ERCC4,ERI2,ERN2,FAM18A,FAM57B,FAM86A,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FLJ26245,FOPNL,FUS,GDE1,GDPD3,GGA2,GLYR1,GP2,GPR139,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,INO80E,IQCK,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,KAT8,KCTD13,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LITAF,LOC100130700,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC283914,LOC388242,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC729264,LOC730183,LOC81691,LONP2,LYRM1,MAPK3,MAZ,METTL22,METTL9,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4517,MIR4518,MIR4519,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MPV17L,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAGPA,NAGPA-AS1,NDE1,NDUFAB1,NETO2,NFATC2IP,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,NUBP1,NUPR1,ORAI3,ORC6,OTOA,PALB2,PARN,PDILT,PDXDC1,PDZD9,PHKB,PHKG2,PKD1P1,PLA2G10,PLK1,PMM2,POLR3E,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RBFOX1,RMI2,RNA5SP411,RNF40,RNU6-76,ROGDI,RPS15A,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHCBP1,SHISA9,SIAH1,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1,SMG1P1,SNN,SNORA30,SNX29,SNX29P1,SNX29P2,SOCS1,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYT17,TAOK2,TBC1D10B,TBX6,TEKT5,TGFB1I1,THUMPD1,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM219,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,TXNDC11,UBE2MP1,UBFD1,UBN1,UMOD,UQCRC2,USP31,USP7,VKORC1,VPS35,VWA3A,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF500,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2 chr16 47633757 47633857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHKB chr16 47639994 47640045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHKB chr16 4767616 4778523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKS3 chr16 4767616 4778523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKS3 chr16 4767675 4778348 Deletion T-cell lymphomas Array-CGH 22341440 ANKS3 chr16 4767675 4778349 Gain and loss Pancreatic cancer SNP array 17952125 ANKS3 chr16 47703391 47703491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHKB chr1 64774706 65493368 LOH Normal High-resolution SNP genotyping 21211785 CACHD1,JAK1,MIR4794,RAVER2 chr1 64774706 65519438 LOH Normal High-resolution SNP genotyping 21211785 CACHD1,JAK1,MIR4794,RAVER2 chr1 64774706 65714580 LOH Normal High-resolution SNP genotyping 21211785 AK4,CACHD1,JAK1,MIR101-1,MIR3671,MIR4794,RAVER2 chr16 47845801 47846593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 4785073 4786717 Deletion T-cell lymphomas Array-CGH 22341440 C16orf71 chr16 47866501 47875000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 64786706 66702972 LOH Normal High-resolution SNP genotyping 21211785 AK4,CACHD1,DNAJC6,JAK1,LEPR,LEPROT,MIR101-1,MIR3671,MIR4794,PDE4B,RAVER2 chr16 4786969 4792675 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 C16orf71 chr16 4786971 4792675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf71 chr16 4786971 4792675 Deletion T-cell lymphomas Array-CGH 22341440 C16orf71 chr16 4786971 4792675 Gain and loss Pancreatic cancer SNP array 17952125 C16orf71 chr16 4786971 4792675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf71 chr16 47870202 47873193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 47870202 47873193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 47870202 47873193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 64788244 64788782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 47893368 47893803 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 479088 756440 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 C16orf11,C16orf13,FAM195A,FBXL16,JMJD8,LINC00235,MIR3176,MIR5587,NHLRC4,PIGQ,RAB11FIP3,RAB40C,RHBDL1,RHOT2,SOLH,STUB1,WDR24,WDR90,WFIKKN1 chr16 47931170 47963291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 4793206 4837285 Deletion T-cell lymphomas Array-CGH 22341440 C16orf71,SEPT12,ZNF500 chr16 4793208 4837294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf71,SEPT12,ZNF500 chr16 4793211 4837294 Gain and loss Pancreatic cancer SNP array 17952125 C16orf71,SEPT12,ZNF500 chr16 47936030 47941966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 47938168 47938253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 4793881 4793943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf71 chr16 47940001 47948000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 47940980 47941501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 47965309 47990816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 47965309 47990816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 47965309 47990818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 47984063 47984158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 47989648 48023853 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 48001470 61794355 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ABCC11,ABCC12,ADCY7,AKTIP,AMFR,ARL2BP,BBS2,BRD7,C16orf78,C16orf80,CAPNS2,CBLN1,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH8,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,CNEP1R1,CNGB1,CNOT1,COQ9,CPNE2,CRNDE,CSNK2A2,CX3CL1,CYLD,DKFZP434H168,DOK4,FAM192A,FTO,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,HEATR3,HERPUD1,IRX3,IRX5,IRX6,KATNB1,KIFC3,LOC100505619,LOC100507577,LOC283856,LOC388276,LOC643714,LOC643802,LOC644649,LONP2,LPCAT2,MIR138-2,MIR3935,MIR548AE2,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,N4BP1,NDRG4,NKD1,NLRC5,NOD2,NUDT21,NUP93,OGFOD1,PAPD5,PLLP,POLR2C,PRSS54,RBL2,RPGRIP1L,RSPRY1,SALL1,SETD6,SIAH1,SLC12A3,SLC38A7,SLC6A2,SNORA46,SNORA50,SNX20,TEPP,TOX3,USB1,ZNF319,ZNF423 chr16 48001501 48516000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC11,ABCC12,LOC100507577,LONP2,MIR548AE2,SIAH1 chr16 48012212 48056219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 48017848 52725934 Deletion Non-syndromic sensorineural hearing loss Array-CGH 22140031 ABCC11,ABCC12,ADCY7,BRD7,C16orf78,CBLN1,CNEP1R1,CYLD,HEATR3,LOC100505619,LOC100507577,LOC388276,LOC643714,LONP2,MIR548AE2,N4BP1,NKD1,NOD2,PAPD5,SALL1,SIAH1,SNX20,TOX3,ZNF423 chr16 48024272 48024366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 48059 62591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX11L10 chr16 48059 62591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX11L10 chr16 4807001 5009400 Copy number Normal ReadDepth: A Parallel R Package 21305028 GLYR1,LOC440335,PPL,ROGDI,SEC14L5,SEPT12,UBN1,ZNF500 chr16 48082021 48418419 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ABCC11,ABCC12,LOC100507577,LONP2,MIR548AE2,SIAH1 chr16 48082023 48418419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCC11,ABCC12,LOC100507577,LONP2,MIR548AE2,SIAH1 chr16 48082023 48418419 Gain and loss Pancreatic cancer SNP array 17952125 ABCC11,ABCC12,LOC100507577,LONP2,MIR548AE2,SIAH1 chr16 48082023 48418419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCC11,ABCC12,LOC100507577,LONP2,MIR548AE2,SIAH1 chr16 48097820 48097953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 48107188 48107277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 48115676 48115776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 48116883 48180680 Deletion Prostate cancer aCGH 22341455 ABCC12 chr16 48145935 48146035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC12 chr1 64815413 64815542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6482110 6501731 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ESPN,MIR4252 chr16 482693 512734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB11FIP3 chr16 48270632 48270713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48278210 48387406 Deletion Prostate cancer aCGH 22341455 LONP2,MIR548AE2 chr16 48375773 48375846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LONP2,MIR548AE2 chr16 4837913 4872358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLYR1,LOC440335,ROGDI,SEPT12 chr16 4837913 4872358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLYR1,LOC440335,ROGDI,SEPT12 chr16 4838138 4872358 Gain and loss Pancreatic cancer SNP array 17952125 GLYR1,LOC440335,ROGDI,SEPT12 chr16 48394441 48419228 Deletion Prostate cancer aCGH 22341455 LOC100507577,MIR548AE2,SIAH1 chr16 48405526 48406238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548AE2,SIAH1 chr16 4842217 4872364 Deletion T-cell lymphomas Array-CGH 22341440 GLYR1,LOC440335,ROGDI chr16 4844260 4890579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLYR1,LOC440335,ROGDI chr16 48501 88500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX11L10 chr16 48519429 49214853 LOH Normal High-resolution SNP genotyping 21211785 N4BP1 chr16 48519429 49405897 LOH Normal High-resolution SNP genotyping 21211785 CBLN1,N4BP1 chr16 48536898 48537211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 64854559 64854628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 48549969 49214853 LOH Normal High-resolution SNP genotyping 21211785 N4BP1 chr16 48568540 49467419 LOH Normal High-resolution SNP genotyping 21211785 C16orf78,CBLN1,N4BP1 chr16 48572636 48644119 Deletion Prostate cancer aCGH 22341455 N4BP1 chr16 48616643 48627518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 N4BP1 chr16 48657398 48697799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48657398 48697799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48657402 48697796 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 48663678 88817300 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AARS,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 48689676 48689768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 48689676 48689770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48693043 88827254 Deletion Normal Arbitrated Peel-off 21527027 AARS,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 48693043 88827254 Deletion Normal GeneGISTIC 21527027 AARS,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 48693043 88827254 Deletion Normal Standard peel-off 21527027 AARS,ACD,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AKTIP,AMFR,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,BRD7,C16orf46,C16orf48,C16orf70,C16orf74,C16orf78,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CBLN1,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HEATR3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LOC732275,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PAPD5,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RRAD,RSPRY1,SALL1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF423,ZNF469,ZNF821,ZNRF1 chr16 48697286 48697733 Deletion Ewing's sarcoma Array CGH 19144156 NOT_FOUND chr16 4872508 4927137 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GLYR1,UBN1 chr16 4872509 4927137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLYR1,UBN1 chr16 4872509 4927137 Deletion T-cell lymphomas Array-CGH 22341440 GLYR1,UBN1 chr16 4872509 4927137 Gain and loss Pancreatic cancer SNP array 17952125 GLYR1,UBN1 chr16 4872509 4927137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLYR1,UBN1 chr16 48743054 48743134 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 48743065 49321291 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CBLN1 chr16 48745280 48826722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48745280 48826722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48745471 49438880 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C16orf78,CBLN1 chr16 48766707 48766750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 48791346 48823232 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 48798938 48866891 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr16 48835001 48856500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 48850399 49134613 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr16 48856501 48902500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 48857979 48909547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48857979 48909547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48873320 49420761 LOH Normal High-resolution SNP genotyping 21211785 C16orf78,CBLN1 chr16 48879323 48909544 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 48898527 48943435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 48898744 48898812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 48902501 49139000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 48910442 48960346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48910442 48960346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48910505 48960306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 48921307 48936970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 48930347 48930441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 48943602 48943704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 48943602 48943704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48951053 48951132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 48951053 48951132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 48959747 48960186 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 64897521 65665163 LOH Normal High-resolution SNP genotyping 21211785 AK4,CACHD1,JAK1,MIR101-1,MIR3671,MIR4794,RAVER2 chr16 48993231 48993326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49016572 49016667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49042448 49043448 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr16 4912851 5364830 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALG1,C16orf89,FAM86A,NAGPA,NAGPA-AS1,PPL,SEC14L5,UBN1 chr16 49139001 49312500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBLN1 chr16 49139742 49226142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 49139742 49226142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 49139742 49226142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 4916948 4916980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBN1 chr1 64917453 65900166 LOH Normal High-resolution SNP genotyping 21211785 AK4,CACHD1,DNAJC6,JAK1,LEPR,LEPROT,MIR101-1,MIR3671,MIR4794,RAVER2 chr1 64917453 65907829 LOH Normal High-resolution SNP genotyping 21211785 AK4,CACHD1,DNAJC6,JAK1,LEPR,LEPROT,MIR101-1,MIR3671,MIR4794,RAVER2 chr1 64917453 68405446 LOH Normal High-resolution SNP genotyping 21211785 AK4,C1orf141,CACHD1,DNAJC6,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INSL5,JAK1,LEPR,LEPROT,MIER1,MIR101-1,MIR3117,MIR3671,MIR4794,PDE4B,RAVER2,SERBP1,SGIP1,SLC35D1,TCTEX1D1,WDR78 chr16 49181590 51336198 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADCY7,BRD7,C16orf78,CBLN1,CNEP1R1,CYLD,HEATR3,NKD1,NOD2,PAPD5,SALL1,SNX20,ZNF423 chr16 49197488 49205096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 49199783 49765661 LOH Normal High-resolution SNP genotyping 21211785 C16orf78,CBLN1,ZNF423 chr1 64922799 65010933 Gain and loss Pancreatic cancer SNP array 17952125 CACHD1 chr16 4924001 4927000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UBN1 chr16 49257712 49272730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 49257712 49272730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 49257712 49272730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 49264252 49265252 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr16 4927001 5089000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NAGPA,NAGPA-AS1,PPL,SEC14L5,UBN1 chr16 49274146 54394461 Loss Prostate cancer Array CGH 18632612 ADCY7,AKTIP,BRD7,C16orf78,CBLN1,CHD9,CNEP1R1,CYLD,FTO,HEATR3,IRX3,LOC100505619,LOC388276,LOC643714,LOC643802,NKD1,NOD2,PAPD5,RBL2,RPGRIP1L,SALL1,SNX20,TOX3,ZNF423 chr16 49284924 49285024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49288551 49324488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBLN1 chr16 49288551 49324488 Gain and loss Pancreatic cancer SNP array 17952125 CBLN1 chr16 49288551 49324488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBLN1 chr16 49289229 49289261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49307902 49308090 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr16 4931075 5004972 Deletion T-cell lymphomas Array-CGH 22341440 PPL,UBN1 chr16 49311827 49315741 Deletion Prostate cancer aCGH 22341455 CBLN1 chr16 49313210 50472906 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCY7,BRD7,C16orf78,CBLN1,CNEP1R1,HEATR3,PAPD5,ZNF423 chr16 49331187 49331285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49333461 49393347 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 49333461 49393347 Gain or loss Cancer - 20668451 NOT_FOUND chr16 49333461 49393347 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 49333461 49393347 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 49333461 49393347 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 49333461 49393347 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 49333462 49393347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 49333462 49393347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 49333486 49390029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 49371579 49371679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49390234 49506662 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C16orf78 chr16 49394315 49394785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 49407807 49433320 Deletion Prostate cancer aCGH 22341455 C16orf78 chr16 4941775 4941893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPL chr16 4941777 4941892 Gain and loss Pancreatic cancer SNP array 17952125 PPL chr16 4941777 4941893 Gain and loss Pancreatic cancer SNP array 17952125 PPL chr16 4943621 4947896 Gain Normal 244K array 17666407 PPL chr16 49457645 49457744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49460866 49460979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 49460867 49460987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 49460867 49460987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 49466297 49466397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 4948319 5009154 Gain and loss Pancreatic cancer SNP array 17952125 PPL,SEC14L5 chr16 4948319 5009157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPL,SEC14L5 chr16 4948319 5009157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPL,SEC14L5 chr16 49502290 49502322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 64950392 65464124 LOH Normal High-resolution SNP genotyping 21211785 CACHD1,JAK1,MIR4794,RAVER2 chr1 64950392 65467859 LOH Normal High-resolution SNP genotyping 21211785 CACHD1,JAK1,MIR4794,RAVER2 chr16 49524520 49860917 Deletion Prostate cancer aCGH 22341455 ZNF423 chr1 64955414 64971276 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CACHD1 chr1 64955414 64973367 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CACHD1 chr16 49592569 49592699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF423 chr16 49600332 49600367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF423 chr16 49611255 49611498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF423 chr16 49621415 49793422 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ZNF423 chr16 49641978 49642057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF423 chr1 6496501 6557000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ESPN,PLEKHG5,TNFRSF25 chr16 49652544 49652644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF423 chr1 64969043 64969143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACHD1 chr16 49698983 49699435 Gain and loss Pancreatic cancer SNP array 17952125 ZNF423 chr16 49727387 49742684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF423 chr16 49727387 49742684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF423 chr16 49727830 49742653 Gain and loss Pancreatic cancer SNP array 17952125 ZNF423 chr1 64972920 64973016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACHD1 chr16 49735277 49735377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF423 chr16 49741001 49747500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF423 chr16 49763416 51939695 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1068K arrays 21546498 ADCY7,BRD7,CNEP1R1,CYLD,HEATR3,NKD1,NOD2,PAPD5,SALL1,SNX20,ZNF423 chr16 49821501 49825482 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ZNF423 chr16 49829206 49829291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF423 chr1 64983366 65071503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACHD1,MIR4794 chr1 64983366 65071503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACHD1,MIR4794 chr16 49888636 49888685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49903397 49903497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 499501 579000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00235,RAB11FIP3,SOLH chr16 49966235 51373170 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCY7,BRD7,CNEP1R1,CYLD,HEATR3,NKD1,NOD2,PAPD5,SALL1,SNX20 chr16 49989320 49989352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 49993991 50863290 LOH Normal High-resolution SNP genotyping 21211785 ADCY7,BRD7,CNEP1R1,CYLD,HEATR3,NKD1,NOD2,PAPD5,SNX20 chr16 50001617 50022787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 5001596 5270445 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALG1,C16orf89,FAM86A,NAGPA,NAGPA-AS1,SEC14L5 chr16 5001596 5270445 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALG1,C16orf89,FAM86A,NAGPA,NAGPA-AS1,SEC14L5 chr16 50059188 50070998 Deletion Prostate cancer aCGH 22341455 CNEP1R1 chr16 50071094 50324848 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ADCY7,HEATR3,PAPD5 chr16 50099880 50139391 Deletion Prostate cancer aCGH 22341455 HEATR3 chr1 65010935 65064007 Gain and loss Pancreatic cancer SNP array 17952125 CACHD1,MIR4794 chr16 5014848 5023916 Deletion T-cell lymphomas Array-CGH 22341440 SEC14L5 chr16 5014848 5023916 Gain and loss Pancreatic cancer SNP array 17952125 SEC14L5 chr16 5014848 5023937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC14L5 chr16 5014848 5023937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC14L5 chr16 50167078 50167172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65018502 65018592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACHD1 chr16 50186828 50269220 Deletion Prostate cancer aCGH 22341455 PAPD5 chr16 5019300 5019350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SEC14L5 chr16 5020000 14620000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ABAT,ALG1,ATF7IP2,BCAR4,C16orf72,C16orf89,CARHSP1,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,FAM86A,GRIN2A,GSPT1,LITAF,METTL22,MIR193B,MIR365A,MIR4718,MIR548X,MKL2,NAGPA,NAGPA-AS1,NUBP1,PARN,PMM2,PRM1,PRM2,PRM3,RBFOX1,RMI2,RSL1D1,SEC14L5,SHISA9,SNN,SNX29,SOCS1,TEKT5,TMEM114,TMEM186,TNFRSF17,TNP2,TXNDC11,USP7,ZC3H7A chr16 5021099 5065949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEC14L5 chr16 5022458 5022558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEC14L5 chr16 50237202 50238528 Gain and loss Pancreatic cancer SNP array 17952125 PAPD5 chr16 50237203 50238192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPD5 chr16 50262648 50262975 Gain and loss Pancreatic cancer SNP array 17952125 PAPD5 chr16 50262671 50262975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPD5 chr16 50262734 50262975 Gain and loss Pancreatic cancer SNP array 17952125 PAPD5 chr16 50321822 50352042 Deletion Prostate cancer aCGH 22341455 ADCY7 chr16 50322977 50323077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY7 chr16 5034125 5055973 Deletion T-cell lymphomas Array-CGH 22341440 SEC14L5 chr16 5034125 5056112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC14L5 chr16 5034125 5056112 Gain and loss Pancreatic cancer SNP array 17952125 SEC14L5 chr16 5034125 5056112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC14L5 chr16 50349348 51211964 LOH Normal High-resolution SNP genotyping 21211785 ADCY7,BRD7,CYLD,NKD1,NOD2,SALL1,SNX20 chr16 50352928 50402844 Deletion Prostate cancer aCGH 22341455 BRD7 chr16 50455149 50455249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 50554017 50610561 Amplification or deletion Cancer Array CGH 17440070 NKD1 chr16 50561900 50562238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 50582240 50668640 Deletion Prostate cancer aCGH 22341455 NKD1 chr16 5061821 5075588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAGPA,SEC14L5 chr16 5061821 5075588 Gain and loss Pancreatic cancer SNP array 17952125 NAGPA,SEC14L5 chr16 5061821 5075588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAGPA,SEC14L5 chr16 5061821 5075589 Deletion T-cell lymphomas Array-CGH 22341440 NAGPA,SEC14L5 chr16 5062785 5101775 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 C16orf89,NAGPA,NAGPA-AS1,SEC14L5 chr16 5062786 7709383 Deletion Cancer Affymetrix 250K Sty array 20164920 ALG1,C16orf89,FAM86A,NAGPA,NAGPA-AS1,RBFOX1,SEC14L5 chr16 50652394 50652494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NKD1 chr16 50674625 57636204 Losse Retinoblastoma Array-CGH 19183342 AKTIP,AMFR,ARL2BP,BBS2,CAPNS2,CCDC102A,CCL17,CCL22,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,COQ9,CPNE2,CRNDE,CX3CL1,CYLD,DKFZP434H168,DOK4,FAM192A,FTO,GNAO1,GPR114,HERPUD1,IRX3,IRX5,IRX6,LOC100505619,LOC283856,LOC388276,LOC643714,LOC643802,LPCAT2,MIR138-2,MIR3935,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,NKD1,NLRC5,NOD2,NUDT21,NUP93,OGFOD1,PLLP,POLR2C,RBL2,RPGRIP1L,RSPRY1,SALL1,SLC12A3,SLC6A2,SNX20,TOX3 chr16 50700210 50715263 Deletion Prostate cancer aCGH 22341455 SNX20 chr16 50707015 50707067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNX20 chr1 65071493 65205207 Gain or loss Breast cancer - 20668451 CACHD1 chr1 65071493 65205207 Gain or loss Cancer - 20668451 CACHD1 chr1 65071493 65205207 Gain or loss Lung cancer - 20668451 CACHD1 chr1 65071493 65205207 Gain or loss Ovarian cancer - 20668451 CACHD1 chr1 65071493 65205207 Gain or loss Pancreas cancer - 20668451 CACHD1 chr1 65071493 65205207 Gain or loss Prostate cancer - 20668451 CACHD1 chr1 65071494 65204775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACHD1 chr1 65071494 65204775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACHD1 chr16 50731049 50766986 Deletion Prostate cancer aCGH 22341455 NOD2 chr16 5074721 5087782 Gain and loss Pancreatic cancer SNP array 17952125 NAGPA,NAGPA-AS1 chr16 5075236 5087782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAGPA,NAGPA-AS1 chr16 5075236 5087782 Deletion T-cell lymphomas Array-CGH 22341440 NAGPA,NAGPA-AS1 chr16 5075236 5087782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAGPA,NAGPA-AS1 chr16 50762740 50762840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOD2 chr16 50772280 50804697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYLD chr16 50775960 50835845 Deletion Prostate cancer aCGH 22341455 CYLD chr1 6507809 6537168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESPN,PLEKHG5,TNFRSF25 chr1 6507809 6537168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESPN,PLEKHG5,TNFRSF25 chr1 65078465 65123432 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CACHD1 chr1 65081044 65081142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACHD1 chr16 50812820 50812920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYLD chr16 50843895 50843971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 50846864 50846962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 5085210 5132553 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ALG1,C16orf89,NAGPA-AS1 chr16 50874049 50874113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 50965326 51373170 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SALL1 chr16 50970003 50971496 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 65098506 65098506 Copy number Prostate cancer Illumina GA II sequencer 21307934 CACHD1 chr16 51001249 51001349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 5100795 5138553 Gain and loss Pancreatic cancer SNP array 17952125 ALG1,C16orf89,FAM86A chr16 51022533 51022613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51029418 51138307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51029418 51138307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51029418 51139215 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 51029424 51059980 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 65106084 65640984 LOH Normal High-resolution SNP genotyping 21211785 AK4,CACHD1,JAK1,MIR101-1,MIR3671,RAVER2 chr1 65111248 65111337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACHD1 chr16 5112664 5112749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf89 chr16 51166701 51166801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51169885 51185182 Deletion Prostate cancer aCGH 22341455 SALL1 chr16 5117617 5117990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 5119091 6618198 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1071K arrays 21546498 ALG1,FAM86A,RBFOX1 chr16 51194542 51194642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51197406 51197506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51200000 54500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKTIP,CHD9,FTO,IRX3,LOC100505619,LOC388276,LOC643714,LOC643802,RBL2,RPGRIP1L,TOX3 chr16 51200000 54500000 Copy number Normal - 21701786 AKTIP,CHD9,FTO,IRX3,LOC100505619,LOC388276,LOC643714,LOC643802,RBL2,RPGRIP1L,TOX3 chr16 51200000 54500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKTIP,CHD9,FTO,IRX3,LOC100505619,LOC388276,LOC643714,LOC643802,RBL2,RPGRIP1L,TOX3 chr16 51200000 65200000 Indels Infertility Agilent Human Genome CGH 244A Oligo Microarray Chip 21528002 AKTIP,AMFR,ARL2BP,BBS2,C16orf80,CAPNS2,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH8,CES1,CES1P1,CES1P2,CES5A,CETP,CHD9,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CRNDE,CSNK2A2,CX3CL1,DKFZP434H168,DOK4,FAM192A,FTO,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,HERPUD1,IRX3,IRX5,IRX6,KATNB1,KIFC3,LOC100505619,LOC283856,LOC388276,LOC643714,LOC643802,LOC644649,LPCAT2,MIR138-2,MIR3935,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,NDRG4,NLRC5,NUDT21,NUP93,OGFOD1,PLLP,POLR2C,PRSS54,RBL2,RPGRIP1L,RSPRY1,SETD6,SLC12A3,SLC38A7,SLC6A2,SNORA46,SNORA50,TEPP,TOX3,USB1,ZNF319 chr16 51200000 69400000 Copy number Breast cancer - 21806811 ACD,AGRP,AKTIP,AMFR,ARL2BP,ATP6V0D1,B3GNT9,BBS2,BEAN1,C16orf48,C16orf70,C16orf80,C16orf86,CA7,CAPNS2,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,COG8,COQ9,CPNE2,CRNDE,CSNK2A2,CTCF,CTRL,CX3CL1,DDX28,DKFZP434H168,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,FTO,GFOD2,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HERPUD1,HSD11B2,HSF4,IRX3,IRX5,IRX6,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100505619,LOC100505865,LOC283856,LOC283867,LOC388276,LOC643714,LOC643802,LOC644649,LPCAT2,LRRC29,LRRC36,MIR138-2,MIR328,MIR3935,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,NAE1,NDRG4,NFATC3,NIP7,NLRC5,NOL3,NRN1L,NUDT21,NUP93,NUTF2,OGFOD1,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PLLP,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RBL2,RLTPR,RPGRIP1L,RRAD,RSPRY1,SETD6,SLC12A3,SLC12A4,SLC38A7,SLC6A2,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNTB2,TEPP,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TOX3,TPPP3,TRADD,TSNAXIP1,USB1,VPS4A,ZDHHC1,ZFP90,ZNF319 chr16 51200000 73300000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AARS,ACD,AGRP,AKTIP,AMFR,AP1G1,ARL2BP,ATP6V0D1,ATXN1L,B3GNT9,BBS2,BEAN1,C16orf48,C16orf70,C16orf80,C16orf86,CA7,CALB2,CAPNS2,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CHST4,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18C,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,COG4,COG8,COQ9,CPNE2,CRNDE,CSNK2A2,CTCF,CTRL,CX3CL1,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,FTO,FTSJD1,FUK,GFOD2,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HERPUD1,HP,HPR,HSD11B2,HSF4,HTA,HYDIN,IL34,IRX3,IRX5,IRX6,IST1,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC283856,LOC283867,LOC388276,LOC643714,LOC643802,LOC644649,LPCAT2,LRRC29,LRRC36,MARVELD3,MIR138-2,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MIR3935,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTSS1L,NAE1,NDRG4,NFAT5,NFATC3,NIP7,NLRC5,NOB1,NOL3,NQO1,NRN1L,NUDT21,NUP93,NUTF2,OGFOD1,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L3,PLA2G15,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RBL2,RLTPR,RPGRIP1L,RRAD,RSPRY1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC6A2,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,TAT,TEPP,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,VAC14,VPS4A,WWP2,ZDHHC1,ZFHX3,ZFP90,ZNF19,ZNF23,ZNF319,ZNF821 chr16 51200000 85600000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AARS,ACD,ADAD2,ADAMTS18,ADAT1,AGRP,AKTIP,AMFR,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BBS2,BCAR1,BCMO1,BEAN1,C16orf46,C16orf48,C16orf70,C16orf80,C16orf86,CA7,CALB2,CAPNS2,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FHOD1,FTO,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRX3,IRX5,IRX6,IST1,KARS,KATNB1,KCNG4,KCTD19,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC283856,LOC283867,LOC283922,LOC388276,LOC400548,LOC643714,LOC643802,LOC644649,LPCAT2,LRRC29,LRRC36,MAF,MARVELD3,MBTPS1,MIR138-2,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR5093,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTSS1L,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NLRC5,NOB1,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RPGRIP1L,RRAD,RSPRY1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TOX3,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZNF19,ZNF23,ZNF319,ZNF821,ZNRF1 chr16 51214327 51214427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51246720 51247463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 51246720 51247463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51278772 51278872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51295854 51296089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 5135901 5945500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALG1,FAM86A chr1 65137345 65218480 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 CACHD1,RAVER2 chr16 51394686 51931570 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 51408416 51408516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51461750 51461874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 651474 653390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51526225 51527050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 51526225 51527050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 65156713 65156957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACHD1 chr16 51580092 51580186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65162417 65163769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 65162681 65182861 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 65162681 65184805 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 65162681 65185068 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 51627191 51627272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51628192 51628292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51646446 51918283 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 51646446 51918914 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 51646446 51918914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51646446 51918914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51708537 51708632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65174922 65219387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAVER2 chr16 517856 544637 Gain or loss Breast cancer - 20668451 RAB11FIP3 chr16 517856 544637 Gain or loss Cancer - 20668451 RAB11FIP3 chr16 517856 544637 Gain or loss Lung cancer - 20668451 RAB11FIP3 chr16 517856 544637 Gain or loss Ovarian cancer - 20668451 RAB11FIP3 chr16 517856 544637 Gain or loss Pancreas cancer - 20668451 RAB11FIP3 chr16 517856 544637 Gain or loss Prostate cancer - 20668451 RAB11FIP3 chr16 517857 544635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP3 chr16 517857 544635 Gain and loss Pancreatic cancer SNP array 17952125 RAB11FIP3 chr16 517857 544635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP3 chr1 65178977 65182861 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 51795990 51796090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51799529 51801232 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 65180250 65180633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51842243 51842336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51855135 51855235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51890101 51891172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 51922821 51936740 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr16 51925975 51926076 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 51925975 51926076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51928866 51928984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 51928866 51928984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 51928866 51928985 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 51941051 51941142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 51946501 51952000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 6519488 6548861 Gain and loss Pancreatic cancer SNP array 17952125 ESPN,PLEKHG5,TNFRSF25 chr16 51958352 51962383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 5197090 5197436 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 51982855 51986691 Loss Normal 244K array 17666407 NOT_FOUND chr16 52025862 52083053 Gain and loss Pancreatic cancer SNP array 17952125 LOC388276 chr16 52025862 52083060 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC388276 chr16 52025862 52083060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC388276 chr16 52025862 52083060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388276 chr16 52028579 53420362 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHD9,LOC100505619,LOC388276,LOC643714,LOC643802,TOX3 chr16 52034679 52034745 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 52034679 52034745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 52039771 52039871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 52082693 52094671 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC388276 chr16 52082693 52094671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC388276 chr16 52082693 52094671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388276 chr16 52083104 52094652 Gain and loss Pancreatic cancer SNP array 17952125 LOC388276 chr16 52086704 52086704 Copy number Prostate cancer Illumina GA II sequencer 21307934 LOC388276 chr16 52100736 52672177 LOH Normal High-resolution SNP genotyping 21211785 LOC100505619,LOC388276,LOC643714,TOX3 chr16 52118750 52118834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100505619 chr16 52191319 52295272 Copy number Autism exome sequencing 22495311 NOT_FOUND chr16 52191325 52295272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 52191325 52295272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 52192101 52279368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 52205469 52236205 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 65222877 65224351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAVER2 chr1 65222877 65224351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAVER2 chr16 52270958 52271060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 52274330 52274430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 52289787 52289887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 52295376 52705882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC643714,TOX3 chr16 52295376 52705882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643714,TOX3 chr16 52295569 52705870 Gain and loss Pancreatic cancer SNP array 17952125 LOC643714,TOX3 chr1 65230656 65230745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAVER2 chr16 52341981 52342081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 5234551 5448549 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1076K arrays 21546498 NOT_FOUND chr1 6523501 6523581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF25 chr1 65236134 65236216 Gain and loss Pancreatic cancer SNP array 17952125 RAVER2 chr1 65236138 65236212 Gain and loss Pancreatic cancer SNP array 17952125 RAVER2 chr16 52365553 52365653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 52387415 52387515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 52422627 54326141 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AKTIP,CHD9,FTO,IRX3,LOC643714,LOC643802,RBL2,RPGRIP1L,TOX3 chr16 52471917 52581713 Deletion Prostate cancer aCGH 22341455 TOX3 chr16 5253225 5253373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 52596352 52596442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643714 chr16 52600000 56700000 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 AKTIP,AMFR,BBS2,CAPNS2,CES1,CES1P1,CES1P2,CES5A,CHD9,CRNDE,DKFZP434H168,FTO,GNAO1,IRX3,IRX5,IRX6,LOC283856,LOC643714,LOC643802,LPCAT2,MIR3935,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1JP,MT1L,MT1M,MT2A,MT3,MT4,NUDT21,OGFOD1,RBL2,RPGRIP1L,SLC6A2 chr16 52600000 90354753 Loss Prostate cancer Array CGH 16573809 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,AKTIP,AMFR,ANKRD11,AP1G1,APRT,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CPNE7,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DKFZP434H168,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX3,IRX5,IRX6,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283856,LOC283867,LOC283922,LOC400548,LOC400558,LOC643714,LOC643802,LOC644649,LOC732275,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NLRC5,NOB1,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RBL2,RFWD3,RLTPR,RNF166,RPGRIP1L,RPL13,RRAD,RSPRY1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 5260158 5261183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 52610099 52610189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643714 chr1 65261239 65261345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAVER2 chr16 52706110 52716782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 52745001 52873000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 65284363 65284463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAVER2 chr16 52873001 52882000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 52874713 52877879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 52874713 52877879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 52874713 52877879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 52888032 52888132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65294690 65451007 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 JAK1,RAVER2 chr16 52956578 52991139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 65296705 65296779 Amplification Acute myeloid leukemia BAC aCGH 20962326 RAVER2 chr1 65296705 65296779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAVER2 chr16 52977133 53056446 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 53000146 53014433 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 53000724 53013583 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 53002829 53014433 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 5301884 6002554 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr16 5301884 7096383 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RBFOX1 chr1 65303726 65303879 Gain and loss Pancreatic cancer SNP array 17952125 JAK1 chr1 6530553 6531270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG5 chr16 53088944 53361413 Deletion Prostate cancer aCGH 22341455 CHD9 chr16 53121783 53309710 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHD9 chr16 53123555 53125260 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHD9 chr16 5312714 5329006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 65315683 65316402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAK1 chr16 53217858 53218166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHD9 chr16 53243389 53243489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHD9 chr1 65325534 65405194 Gain and loss Pancreatic cancer SNP array 17952125 JAK1 chr1 65330625 65330886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAK1 chr16 53446684 53475782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBL2 chr16 53468350 53525559 Deletion Prostate cancer aCGH 22341455 AKTIP,RBL2 chr1 6535180 6535260 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHG5 chr16 53522612 53525898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKTIP,RBL2 chr16 53522612 53525898 Gain and loss Pancreatic cancer SNP array 17952125 AKTIP,RBL2 chr16 53522612 53525898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKTIP,RBL2 chr16 53525191 53537169 Deletion Prostate cancer aCGH 22341455 AKTIP,RBL2 chr16 53528001 53530000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKTIP chr16 53530001 53727500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKTIP,RPGRIP1L chr16 5355798 5356692 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 5355798 5356692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 65358280 65947717 LOH Normal High-resolution SNP genotyping 21211785 AK4,DNAJC6,JAK1,LEPR,LEPROT,MIR101-1,MIR3671 chr16 53603963 53604043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 53633817 53737770 Deletion Prostate cancer aCGH 22341455 RPGRIP1L chr16 53636168 53949133 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FTO,RPGRIP1L chr1 65364293 65364446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAK1 chr16 53643952 53644047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPGRIP1L chr16 5366663 5369507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 53717086 54058455 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FTO,RPGRIP1L chr16 53737874 54148378 Deletion Prostate cancer aCGH 22341455 FTO chr1 65376661 65376743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JAK1 chr1 6538021 6562403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG5 chr1 6538021 6562403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG5 chr16 53822000 54962800 Loss Prostate cancer Array CGH 18632612 CRNDE,FTO,IRX3 chr16 53848161 53880727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FTO chr16 53849520 54194857 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 FTO chr1 65385819 65465763 Gain Ovarian cancer Affymetrix 20844748 JAK1 chr1 65385820 65470407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JAK1 chr1 65385820 65470407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAK1 chr16 53874968 53875069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FTO chr16 53882792 53883086 Gain and loss Pancreatic cancer SNP array 17952125 FTO chr16 53882792 53883086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FTO chr16 53882792 53883089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FTO chr16 53914501 53924500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FTO chr16 53915173 53922168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FTO chr16 53915173 53922168 Gain and loss Pancreatic cancer SNP array 17952125 FTO chr16 53915173 53922168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FTO chr1 65392751 65392921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAK1 chr16 53928911 53929011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FTO chr16 53931015 53931115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FTO chr16 5396185 5430203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 53970341 53970394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FTO chr16 53986368 53986451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FTO chr16 54000488 54351802 Gain Asthma Illumina 550K SNP array 20841430 FTO,IRX3 chr16 5403356 5407355 Loss Normal 244K array 17666407 NOT_FOUND chr16 54048572 54048622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FTO chr16 54070581 54098087 Copy number Lung cancer - 20668451 FTO chr16 54070581 54098087 Gain or loss Breast cancer - 20668451 FTO chr16 54070581 54098087 Gain or loss Cancer - 20668451 FTO chr16 54070581 54098087 Gain or loss Lung cancer - 20668451 FTO chr16 54070581 54098087 Gain or loss Ovarian cancer - 20668451 FTO chr16 54070581 54098087 Gain or loss Pancreas cancer - 20668451 FTO chr16 54070581 54098087 Gain or loss Prostate cancer - 20668451 FTO chr16 54070589 54098101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FTO chr16 54070589 54098101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FTO chr16 54070604 54097652 Gain and loss Pancreatic cancer SNP array 17952125 FTO chr16 54086912 55628876 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CAPNS2,CRNDE,FTO,IRX3,IRX5,IRX6,LPCAT2,MMP2 chr16 54097176 54097261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FTO chr16 54100455 54174650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FTO chr16 54100455 54174650 Gain and loss Pancreatic cancer SNP array 17952125 FTO chr16 54100455 54174650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FTO chr16 54129064 54841407 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FTO,IRX3 chr16 54165992 54166092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 541840 691644 Copy number gain Normal High-resolution SNP genotyping 21211785 C16orf11,C16orf13,LINC00235,MIR3176,MIR5587,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH,WFIKKN1 chr16 5421933 5424242 Loss Normal 244K array 17666407 NOT_FOUND chr16 54226897 54541091 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IRX3 chr16 54233360 54233445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 54243501 54425000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IRX3 chr16 54247522 54295201 Copy number Lung cancer - 20668451 NOT_FOUND chr16 54247522 54295201 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 54247522 54295201 Gain or loss Cancer - 20668451 NOT_FOUND chr16 54247522 54295201 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 54247522 54295201 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 54247522 54295201 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 54247522 54295201 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 54247934 54295199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 54248057 54296685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54248057 54296685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54248071 54248169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 54254249 54254347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 54291319 54323315 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IRX3 chr16 54294857 54295705 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 54304205 54304305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65432166 65433869 Gain and loss Pancreatic cancer SNP array 17952125 JAK1 chr16 54341931 54379458 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 54342316 54374193 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr16 54351171 54376491 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr16 54351993 54385568 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 54351994 54385568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54352307 54379863 Loss or gain Normal 244K array 17666407 NOT_FOUND chr16 54352452 54353890 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54352452 54428636 Copy number Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54352549 54379945 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 54352715 54379898 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 54352715 54379945 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 54353878 54374194 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 54353890 54367708 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 54353890 54379945 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54354412 54384955 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 54354412 54384955 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr16 54354723 54379254 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 54354723 54379254 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 54356251 54374194 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 54356251 54379458 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 54359983 54376864 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr16 54360332 54379254 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 54360332 54379254 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 54361849 54387091 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 54366967 54379945 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 54384955 54423513 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 54384955 54423513 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr16 54387058 54399855 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54391659 66507447 Substitutions and indels small cell lung cancer array-CGH 20016488 AMFR,ARL2BP,BBS2,BEAN1,C16orf80,CAPNS2,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH5,CDH8,CES1,CES1P1,CES1P2,CES5A,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CRNDE,CSNK2A2,CX3CL1,DKFZP434H168,DOK4,FAM192A,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,HERPUD1,IRX5,IRX6,KATNB1,KIFC3,LOC100505865,LOC283856,LOC283867,LOC644649,LPCAT2,MIR138-2,MIR3935,MMP15,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,NDRG4,NLRC5,NUDT21,NUP93,OGFOD1,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SLC6A2,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 54394264 54424576 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr16 54394267 54424529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 54394267 54424576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54394267 54424576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54399855 54399882 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54399882 54399883 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54399883 54416294 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54400504 54422636 Loss or gain Normal 244K array 17666407 NOT_FOUND chr16 54416294 54420211 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54420211 54425940 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 54420325 54420325 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr1 65442458 65593573 Gain and loss Pancreatic cancer SNP array 17952125 MIR101-1,MIR3671 chr16 54437629 54466783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54437629 54466783 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 54437629 54466783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54489253 55155771 LOH Normal High-resolution SNP genotyping 21211785 CRNDE,IRX5 chr16 54500000 56700000 Copy number Normal - 20680643 AMFR,BBS2,CAPNS2,CES1,CES1P1,CES1P2,CES5A,CRNDE,DKFZP434H168,GNAO1,IRX5,IRX6,LOC283856,LPCAT2,MIR3935,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1JP,MT1L,MT1M,MT2A,MT3,MT4,NUDT21,OGFOD1,SLC6A2 chr16 54500000 88827254 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AARS,ACD,ADAD2,ADAMTS18,ADAT1,AGRP,AMFR,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BBS2,BCAR1,BCMO1,BEAN1,C16orf46,C16orf48,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CAPNS2,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CRNDE,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DDX19A,DDX19B,DDX28,DHODH,DHX38,DKFZP434H168,DNAAF1,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GNAO1,GOT2,GPR114,GPR56,GPR97,HAS3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IRX5,IRX6,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283856,LOC283867,LOC283922,LOC400548,LOC644649,LOC732275,LPCAT2,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR3935,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NLRC5,NOB1,NOL3,NQO1,NRN1L,NUDT21,NUDT7,NUP93,NUTF2,OGFOD1,OSGIN1,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RRAD,RSPRY1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC6A2,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF469,ZNF821,ZNRF1 chr16 54502196 54502339 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 65454819 65455182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 54708010 54708110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 54723934 54759593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 54743158 54743252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 54782751 54948857 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 54782751 54948857 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 54782751 54948857 Gain or loss Cancer - 20668451 NOT_FOUND chr16 54782751 54948857 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 54782751 54948857 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 54782751 54948857 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 54782751 54948857 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 54782803 54948651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54782803 54948651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 54783649 54948644 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 54785043 54785304 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 65478747 66713540 LOH Normal High-resolution SNP genotyping 21211785 AK4,DNAJC6,LEPR,LEPROT,MIR101-1,MIR3671,PDE4B chr16 54799628 54799728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 54843001 54924000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 54912189 54912241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 54924001 54945500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 54952864 55016945 Gain or loss Breast cancer - 20668451 CRNDE,IRX5 chr16 54952864 55016945 Gain or loss Cancer - 20668451 CRNDE,IRX5 chr16 54952864 55016945 Gain or loss Lung cancer - 20668451 CRNDE,IRX5 chr16 54952864 55016945 Gain or loss Ovarian cancer - 20668451 CRNDE,IRX5 chr16 54952864 55016945 Gain or loss Pancreas cancer - 20668451 CRNDE,IRX5 chr16 54952864 55016945 Gain or loss Prostate cancer - 20668451 CRNDE,IRX5 chr16 54952865 55016804 Gain and loss Pancreatic cancer SNP array 17952125 CRNDE,IRX5 chr16 54952865 55016945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRNDE,IRX5 chr16 54952865 55016945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRNDE,IRX5 chr16 54953946 54954046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRNDE chr16 54964086 54964141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6549700 6583605 Gain and loss Pancreatic cancer SNP array 17952125 NOL9,PLEKHG5 chr16 55017131 55017182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 55020549 55042762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55020549 55042762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55020554 55042766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 65503182 65654140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AK4,MIR101-1,MIR3671 chr1 65503182 65654140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK4,MIR101-1,MIR3671 chr16 550423 558420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP3 chr16 550423 558420 Gain and loss Pancreatic cancer SNP array 17952125 RAB11FIP3 chr16 550423 558420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP3 chr16 55042925 55068908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55042925 55068908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55042937 55070513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55043296 55404305 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 IRX6 chr16 55051110 55051210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55072 259591 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DDX11L10,HBA1,HBA2,HBM,HBQ1,HBZ,LUC7L,MPG,NPRL3,POLR3K,RHBDF1,SNRNP25 chr16 55075801 55111696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55075801 55111696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55075801 55111696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55091717 55092090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 551196 5575799 Copy number Autism exome sequencing 22495311 ABCA17P,ABCA3,ADCY9,ALG1,AMDHD2,ANKS3,ATP6V0C,BAIAP3,C16orf11,C16orf13,C16orf5,C16orf59,C16orf71,C16orf79,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CLUAP1,CORO7,CORO7-PAM16,CRAMP1L,CREBBP,DNAJA3,DNASE1,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM195A,FAM86A,FBXL16,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,GFER,GLIS2,GLYR1,GNG13,GNPTG,HAGH,HAGHL,HCFC1R1,HMOX2,HN1L,HS3ST6,IFT140,IGFALS,IL32,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100507501,LOC440335,LOC652276,MAPK8IP3,MEFV,MEIOB,METRN,MGC3771,MGRN1,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MRPS34,MSLN,MSRB1,MTRNR2L4,NAA60,NAGPA,NAGPA-AS1,NARFL,NDUFB10,NHLRC4,NLRC3,NME3,NMRAL1,NOXO1,NPW,NTHL1,NTN3,NUBP2,NUDT16L1,OR1F1,OR1F2P,OR2C1,PAM16,PAQR4,PDPK1,PGP,PIGQ,PKD1,PKMYT1,PPL,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RHBDL1,RHOT2,RNF151,RNPS1,ROGDI,RPL3L,RPS2,RPUSD1,SEC14L5,SEPT12,SLC9A3R2,SLX4,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SOLH,SOX8,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,TFAP4,THOC6,TIGD7,TMEM204,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,UBE2I,UBN1,UNKL,VASN,WDR24,WDR90,WFIKKN1,ZG16B,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZSCAN10 chr16 55137428 55150597 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 55156462 55160370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55156462 55160370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55156470 55156550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55156542 55160345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55174527 55174860 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 55180001 55287500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 55180768 55182500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55180768 55182500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55180768 55182500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55187692 55187792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55199997 55200909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55200000 55200909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 5520573 5521573 Gain Osteosarcoma References 21215367 NOT_FOUND chr16 55207994 55208059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55216888 55218525 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55217086 55218523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55217086 55218523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55224035 55225398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55224035 55225398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55230079 55231498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55230079 55231498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55230079 55244616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55235100 55236653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55239661 55240927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55243312 55244616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55243312 55244616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55249355 55250716 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 55249356 55250713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55249356 55250713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55249356 55262538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55253649 55254246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55253649 55254246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55257212 55257312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55258149 55259478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55258153 55259478 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 55258154 55259478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55258154 55259478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55261227 55262542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55261227 55262542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55267603 55275608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55267603 55275608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55267603 55275608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55287531 55287631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65530100 65530162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55321573 55436177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRX6 chr16 55321573 55436177 Gain and loss Pancreatic cancer SNP array 17952125 IRX6 chr16 55321573 55436177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRX6 chr16 55335819 55335919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55369591 57653333 Gain Prostate cancer Array CGH 18632612 AMFR,ARL2BP,BBS2,CAPNS2,CCDC102A,CCL17,CCL22,CES1,CES1P1,CES1P2,CES5A,CETP,CIAPIN1,COQ9,CPNE2,CX3CL1,DKFZP434H168,DOK4,FAM192A,GNAO1,GPR114,HERPUD1,LOC283856,LPCAT2,MIR138-2,MIR3935,MMP2,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,NLRC5,NUDT21,NUP93,OGFOD1,PLLP,POLR2C,RSPRY1,SLC12A3,SLC6A2 chr1 65537026 65537251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55375656 55375756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55441501 55741500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPNS2,LPCAT2,MMP2,SLC6A2 chr16 55448509 55475034 Loss Normal 244K array 17666407 NOT_FOUND chr16 55449931 55450014 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55449931 55450014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55456619 55507263 Genomic rearrangement Gitelman Syndrome MLPA or QMPSF 21415153 NOT_FOUND chr16 55456643 55504850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55456643 55504850 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55456643 55504850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 5548091 5555787 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 55520129 55520215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MMP2 chr16 55523248 55535294 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MMP2 chr16 55523249 55535294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMP2 chr16 55523249 55535294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP2 chr16 55523560 55535294 Gain and loss Pancreatic cancer SNP array 17952125 MMP2 chr16 55537872 55537970 Gain and loss Pancreatic cancer SNP array 17952125 MMP2 chr16 55537872 55537970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP2 chr16 55543295 55543385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPCAT2 chr16 55552539 55590514 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LPCAT2 chr16 55553263 55575257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPCAT2 chr16 55553263 55575257 Gain and loss Pancreatic cancer SNP array 17952125 LPCAT2 chr16 55553263 55575257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPCAT2 chr16 55556386 55556483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPCAT2 chr16 55580911 55674937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPNS2,LPCAT2 chr16 55580911 55674937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPNS2,LPCAT2 chr16 55612126 55674932 Gain and loss Pancreatic cancer SNP array 17952125 LPCAT2 chr16 55632716 55784457 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CES1P2,SLC6A2 chr16 55663340 55908904 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CES1,CES1P1,CES1P2,CES5A,SLC6A2 chr16 55663911 55664011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55684007 55739377 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC6A2 chr16 55684007 55739377 Gain and loss Pancreatic cancer SNP array 17952125 SLC6A2 chr16 55684011 55739377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC6A2 chr16 55684011 55739377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC6A2 chr16 55694911 55695011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A2 chr1 6557001 6586000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOL9,PLEKHG5 chr16 557012 574109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP3 chr16 557012 574109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP3 chr16 55743883 55777367 Gain and loss Pancreatic cancer SNP array 17952125 CES1P2 chr16 55743888 55777477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CES1P2 chr16 55777742 55830441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CES1P1,CES1P2 chr16 55777742 55830441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CES1P1,CES1P2 chr16 55777746 55831887 Gain and loss Pancreatic cancer SNP array 17952125 CES1P1,CES1P2 chr16 55810123 55810445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 55836538 55845046 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CES1 chr16 55836539 55845046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CES1 chr16 55836539 55845046 Gain and loss Pancreatic cancer SNP array 17952125 CES1 chr16 55836539 55845046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CES1 chr16 55847505 55876077 Gain and loss Pancreatic cancer SNP array 17952125 CES1 chr16 55847511 55876072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CES1 chr16 55847511 55876072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CES1 chr1 65584793 65584893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55848001 56064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CES1,CES5A chr16 55862616 57274342 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AMFR,BBS2,CES1,CES5A,CETP,CPNE2,DKFZP434H168,FAM192A,GNAO1,HERPUD1,LOC283856,MIR138-2,MIR3935,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,NLRC5,NUDT21,NUP93,OGFOD1,RSPRY1,SLC12A3 chr16 55869313 55913447 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CES5A chr16 55883900 55885648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CES5A chr16 55884184 55884708 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CES5A chr16 5589596 5589696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 55902640 55902692 Loss Normal 244K array 17666407 CES5A chr1 65590667 65590729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55923814 55924619 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 CES5A chr1 65593520 65593706 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 65593520 65593710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 55950219 55957600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CES5A chr16 55950219 55957600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CES5A chr16 55950219 55957602 Gain and loss Pancreatic cancer SNP array 17952125 CES5A chr16 55963908 55976455 Gain and loss Pancreatic cancer SNP array 17952125 CES5A chr16 55963915 55976455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CES5A chr16 55963915 55976455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CES5A chr16 55980020 56631711 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AMFR,BBS2,CES5A,DKFZP434H168,GNAO1,LOC283856,MIR3935,MT3,MT4,NUDT21,OGFOD1 chr1 65598340 65815197 Gain and loss Pancreatic cancer SNP array 17952125 AK4,DNAJC6 chr16 5598816 5605457 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 55996180 56007475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55996180 56007475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 55996511 55996611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 560005 574109 Gain and loss Pancreatic cancer SNP array 17952125 RAB11FIP3 chr16 56005346 56007274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 56019582 56038845 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 56019587 56038870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56019587 56038870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56019587 56038870 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr16 56036056 57044794 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMFR,BBS2,CETP,DKFZP434H168,GNAO1,HERPUD1,LOC283856,MIR138-2,MIR3935,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,NUDT21,NUP93,OGFOD1,SLC12A3 chr16 56038903 56052679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56038903 56052679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56038904 56052679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 56054052 56063422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56054052 56063422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56054080 56063422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 56058085 56058185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 56058339 56058439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 56063381 56077828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56063381 56077828 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 56063381 56077828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56064501 56077500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 5607394 7290455 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 RBFOX1 chr16 56077501 56124000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 56103596 56127978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283856 chr16 56103596 56127978 Gain and loss Pancreatic cancer SNP array 17952125 LOC283856 chr16 56103596 56127978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283856 chr16 56124001 56127500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283856 chr16 56127501 56209000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283856 chr16 56134068 56183094 Gain and loss Pancreatic cancer SNP array 17952125 LOC283856 chr16 56134102 56183094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283856 chr16 56134102 56183094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283856 chr16 56137979 59246299 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AMFR,ARL2BP,BBS2,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CSNK2A2,CX3CL1,DKFZP434H168,DOK4,FAM192A,GINS3,GNAO1,GOT2,GPR114,GPR56,GPR97,HERPUD1,KATNB1,KIFC3,LOC283856,MIR138-2,MIR3935,MMP15,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,NDRG4,NLRC5,NUDT21,NUP93,OGFOD1,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 56163417 56165527 Loss Normal 244K array 17666407 LOC283856 chr16 56194551 56195107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283856 chr16 56194566 56195080 Gain and loss Pancreatic cancer SNP array 17952125 LOC283856 chr16 56209001 56261500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DKFZP434H168,GNAO1,LOC283856 chr16 56220023 56256445 Copy number Autism exome sequencing 22495311 DKFZP434H168,GNAO1,LOC283856 chr16 56220023 56256445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DKFZP434H168,GNAO1,LOC283856 chr16 56220023 56256445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DKFZP434H168,GNAO1,LOC283856 chr16 56227640 56227720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZP434H168,GNAO1 chr16 56228731 56242451 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 GNAO1 chr1 65624723 65669591 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AK4 chr16 56259658 56281476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAO1,MIR3935 chr16 56259658 56281476 Gain and loss Pancreatic cancer SNP array 17952125 GNAO1,MIR3935 chr16 56259658 56281476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAO1,MIR3935 chr16 56261501 56342500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNAO1,MIR3935 chr1 6562643 6571926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG5 chr1 6562643 6571926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG5 chr16 56266508 56266608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNAO1 chr16 56281001 56287200 Deletion Glioma mate-paired sequence 20126413 GNAO1 chr16 56282886 56285606 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GNAO1 chr16 56282897 56285347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNAO1 chr16 56283390 56285348 Loss Normal 244K array 17666407 GNAO1 chr16 56286219 56322868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAO1 chr16 56286219 56322868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAO1 chr16 56286225 56322867 Gain and loss Pancreatic cancer SNP array 17952125 GNAO1 chr1 65630676 65697347 Gain Normal Birdsuite, version 1.5.2 22087296 AK4 chr16 56327161 56348663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAO1 chr16 56327161 56348663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAO1 chr16 56328618 56348657 Gain and loss Pancreatic cancer SNP array 17952125 GNAO1 chr16 56335872 56335947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNAO1 chr16 56337252 56337312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNAO1 chr16 56342501 56355500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNAO1 chr16 56349630 56393940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAO1 chr16 56349630 56393940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAO1 chr16 56349632 56393909 Gain and loss Pancreatic cancer SNP array 17952125 GNAO1 chr16 56355501 56395000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNAO1 chr16 56395001 56547000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMFR,BBS2,NUDT21,OGFOD1 chr16 56405185 56408332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMFR chr16 56405185 56408332 Gain and loss Pancreatic cancer SNP array 17952125 AMFR chr16 56405185 56408332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMFR chr1 65640984 66268711 LOH Normal High-resolution SNP genotyping 21211785 AK4,DNAJC6,LEPR,LEPROT,PDE4B chr16 56421941 56422047 Gain and loss Pancreatic cancer SNP array 17952125 AMFR chr16 56421941 56422047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMFR chr16 56465789 56465935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUDT21 chr16 56475004 56562497 Gain and loss Pancreatic cancer SNP array 17952125 BBS2,NUDT21,OGFOD1 chr16 56475004 56562513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BBS2,NUDT21,OGFOD1 chr16 56475004 56562513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BBS2,NUDT21,OGFOD1 chr1 6565069 6628531 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOL9,PLEKHG5,TAS1R1 chr1 65654087 65654277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK4 chr16 56547001 56556000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BBS2 chr16 56551526 56551626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BBS2 chr16 56554001 56554001 Copy number Prostate cancer Illumina GA II sequencer 21307934 BBS2 chr16 56556001 56575500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 56564857 56609576 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MT4 chr16 56567840 56578853 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 56567840 56579516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56567840 56579516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56575501 56593000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 56580339 56581794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 56586074 56591263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56586074 56591263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 56586074 56591263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 65658902 65670837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AK4 chr1 65658902 65670837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK4 chr1 65658906 65875410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AK4,DNAJC6 chr1 65658906 65875410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK4,DNAJC6 chr16 56592806 56613022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MT4 chr16 56592806 56613022 Gain and loss Pancreatic cancer SNP array 17952125 MT4 chr16 56592806 56613022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MT4 chr16 56593001 56616000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MT4 chr16 56616001 56641500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MT3 chr16 56616783 56638303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MT3 chr16 56616783 56638303 Gain and loss Pancreatic cancer SNP array 17952125 MT3 chr16 56616783 56638303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MT3 chr16 56641501 56695000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MT1A,MT1B,MT1DP,MT1E,MT1F,MT1JP,MT1L,MT1M,MT2A chr16 56657709 56764704 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1M,MT1X,NUP93 chr1 65666839 66360306 LOH Normal High-resolution SNP genotyping 21211785 AK4,DNAJC6,LEPR,LEPROT,PDE4B chr16 56669987 56670087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MT1JP chr16 56674473 56674573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 56674475 56674573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 56700000 56877561 Deletion or duplication Autism Array CGH 19955444 MT1G,MT1H,MT1IP,MT1X,NUP93 chr16 56700000 56877561 Deletion or duplication Schizophrenia Array CGH 19955444 MT1G,MT1H,MT1IP,MT1X,NUP93 chr16 56700000 57400000 Loss and deletion Multiple myeloma Array CGH 16616336 ARL2BP,CCL22,CETP,CPNE2,FAM192A,HERPUD1,MIR138-2,MT1G,MT1H,MT1IP,MT1X,NLRC5,NUP93,PLLP,RSPRY1,SLC12A3 chr16 56700000 65200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL2BP,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH8,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CSNK2A2,CX3CL1,DOK4,FAM192A,GINS3,GOT2,GPR114,GPR56,GPR97,HERPUD1,KATNB1,KIFC3,LOC644649,MIR138-2,MMP15,MT1G,MT1H,MT1IP,MT1X,NDRG4,NLRC5,NUP93,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 56700000 65200000 Copy number Normal - 20680643 ARL2BP,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH8,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CSNK2A2,CX3CL1,DOK4,FAM192A,GINS3,GOT2,GPR114,GPR56,GPR97,HERPUD1,KATNB1,KIFC3,LOC644649,MIR138-2,MMP15,MT1G,MT1H,MT1IP,MT1X,NDRG4,NLRC5,NUP93,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 56700000 65200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL2BP,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH8,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CSNK2A2,CX3CL1,DOK4,FAM192A,GINS3,GOT2,GPR114,GPR56,GPR97,HERPUD1,KATNB1,KIFC3,LOC644649,MIR138-2,MMP15,MT1G,MT1H,MT1IP,MT1X,NDRG4,NLRC5,NUP93,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 56700000 65200000 Gain Medulloblastoma SNP arrays 21979893 ARL2BP,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH8,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CSNK2A2,CX3CL1,DOK4,FAM192A,GINS3,GOT2,GPR114,GPR56,GPR97,HERPUD1,KATNB1,KIFC3,LOC644649,MIR138-2,MMP15,MT1G,MT1H,MT1IP,MT1X,NDRG4,NLRC5,NUP93,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 56700000 65200000 Loss Cancer array-based techniques 21183584 ARL2BP,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH8,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CSNK2A2,CX3CL1,DOK4,FAM192A,GINS3,GOT2,GPR114,GPR56,GPR97,HERPUD1,KATNB1,KIFC3,LOC644649,MIR138-2,MMP15,MT1G,MT1H,MT1IP,MT1X,NDRG4,NLRC5,NUP93,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 56700000 65200000 Loss Ovarian cancer Affymetrix 20844748 ARL2BP,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH8,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CSNK2A2,CX3CL1,DOK4,FAM192A,GINS3,GOT2,GPR114,GPR56,GPR97,HERPUD1,KATNB1,KIFC3,LOC644649,MIR138-2,MMP15,MT1G,MT1H,MT1IP,MT1X,NDRG4,NLRC5,NUP93,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 56700000 65200000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ARL2BP,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH8,CETP,CIAPIN1,CNGB1,CNOT1,COQ9,CPNE2,CSNK2A2,CX3CL1,DOK4,FAM192A,GINS3,GOT2,GPR114,GPR56,GPR97,HERPUD1,KATNB1,KIFC3,LOC644649,MIR138-2,MMP15,MT1G,MT1H,MT1IP,MT1X,NDRG4,NLRC5,NUP93,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC12A3,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 56700000 69400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ACD,AGRP,ARL2BP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf80,C16orf86,CA7,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES2,CES3,CES4A,CETP,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,COG8,COQ9,CPNE2,CSNK2A2,CTCF,CTRL,CX3CL1,DDX28,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,GINS3,GOT2,GPR114,GPR56,GPR97,HAS3,HERPUD1,HSD11B2,HSF4,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100505865,LOC283867,LOC644649,LRRC29,LRRC36,MIR138-2,MIR328,MMP15,MT1G,MT1H,MT1IP,MT1X,NAE1,NDRG4,NFATC3,NIP7,NLRC5,NOL3,NRN1L,NUP93,NUTF2,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PLLP,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,RSPRY1,SETD6,SLC12A3,SLC12A4,SLC38A7,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNTB2,TEPP,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,USB1,VPS4A,ZDHHC1,ZFP90,ZNF319 chr16 56700000 82700000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AARS,ACD,ADAMTS18,ADAT1,AGRP,AP1G1,ARL2BP,ATMIN,ATP6V0D1,ATXN1L,B3GNT9,BCAR1,BCMO1,BEAN1,C16orf46,C16orf48,C16orf70,C16orf80,C16orf86,CA7,CALB2,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES2,CES3,CES4A,CETP,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,CPNE2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM96B,FBXL8,FHOD1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HERPUD1,HP,HPR,HSD11B2,HSD17B2,HSF4,HTA,HYDIN,IL34,IST1,KARS,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LDHD,LOC100129617,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC283867,LOC283922,LOC644649,LRRC29,LRRC36,MAF,MARVELD3,MIR138-2,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MIR4719,MIR4720,MLKL,MMP15,MON1B,MPHOSPH6,MT1G,MT1H,MT1IP,MT1X,MTSS1L,NAE1,NDRG4,NFAT5,NFATC3,NIP7,NLRC5,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUP93,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RRAD,RSPRY1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,VAC14,VAT1L,VPS4A,WDR59,WWOX,WWP2,ZDHHC1,ZFHX3,ZFP1,ZFP90,ZNF19,ZNF23,ZNF319,ZNF821,ZNRF1 chr16 56700000 88827254 Deletion Medulloblastoma SNP arrays 21979893 AARS,ACD,ADAD2,ADAMTS18,ADAT1,AGRP,AP1G1,ARL2BP,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf46,C16orf48,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES2,CES3,CES4A,CETP,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE2,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DDX19A,DDX19B,DDX28,DHODH,DHX38,DNAAF1,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM192A,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HERPUD1,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MT1G,MT1H,MT1IP,MT1X,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NLRC5,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUP93,NUTF2,OSGIN1,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PLLP,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RRAD,RSPRY1,SDR42E1,SETD6,SF3B3,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAF1C,TAT,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF319,ZNF469,ZNF821,ZNRF1 chr16 56705000 56720797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MT1H,MT1IP,MT1X chr16 56705000 56720797 Gain and loss Pancreatic cancer SNP array 17952125 MT1H,MT1IP,MT1X chr16 56705000 56720797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MT1H,MT1IP,MT1X chr16 56722362 56732795 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr16 56749312 56789283 Gain or loss Breast cancer - 20668451 NUP93 chr16 56749312 56789283 Gain or loss Cancer - 20668451 NUP93 chr16 56749312 56789283 Gain or loss Lung cancer - 20668451 NUP93 chr16 56749312 56789283 Gain or loss Ovarian cancer - 20668451 NUP93 chr16 56749312 56789283 Gain or loss Pancreas cancer - 20668451 NUP93 chr16 56749312 56789283 Gain or loss Prostate cancer - 20668451 NUP93 chr16 56749320 56789283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP93 chr16 56749320 56789283 Gain and loss Pancreatic cancer SNP array 17952125 NUP93 chr16 56749320 56789283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP93 chr16 56752532 56753159 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 56770590 56770685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUP93 chr16 56774944 56775044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUP93 chr16 56783625 56796999 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NUP93 chr16 56790973 56791234 Gain and loss Pancreatic cancer SNP array 17952125 NUP93 chr16 56790973 56791234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP93 chr16 56804348 56804448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUP93 chr1 65682211 65682480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AK4 chr16 56841340 56875233 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NUP93 chr16 56841364 56875233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP93 chr16 56841364 56875233 Gain and loss Pancreatic cancer SNP array 17952125 NUP93 chr16 56841364 56875233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP93 chr16 5684570 5684670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 56848404 56848721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NUP93 chr16 56860587 56879788 Gain and loss Pancreatic cancer SNP array 17952125 NUP93 chr16 56871403 56886444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP93 chr16 56871403 56886444 Gain and loss Pancreatic cancer SNP array 17952125 NUP93 chr16 56871403 56886444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP93 chr16 56893056 56893156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 56969455 56969553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HERPUD1 chr16 56969457 56969553 Gain and loss Pancreatic cancer SNP array 17952125 HERPUD1 chr1 65697347 65709500 Gain Normal Birdsuite, version 1.5.2 22087296 AK4 chr16 56983894 56997548 Gain and loss Pancreatic cancer SNP array 17952125 CETP chr16 56983924 56997548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CETP chr16 56983924 56997548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CETP chr16 57055118 57105023 Gain and loss Pancreatic cancer SNP array 17952125 NLRC5 chr16 57055118 57105024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRC5 chr16 57055118 57105024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRC5 chr16 57070440 57070530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLRC5 chr16 57079001 57108000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NLRC5 chr1 65708647 65746519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAJC6 chr16 57088313 57088417 Gain and loss Pancreatic cancer SNP array 17952125 NLRC5 chr16 57088313 57088419 Gain and loss Pancreatic cancer SNP array 17952125 NLRC5 chr16 57088313 57088419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRC5 chr1 65709500 65796703 Gain Normal Birdsuite, version 1.5.2 22087296 DNAJC6 chr16 57106887 57111932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRC5 chr16 57106887 57111932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRC5 chr16 57106928 57111051 Gain and loss Pancreatic cancer SNP array 17952125 NLRC5 chr16 57111359 57221251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPNE2,FAM192A,NLRC5,RSPRY1 chr16 57111359 57221251 Gain and loss Pancreatic cancer SNP array 17952125 CPNE2,FAM192A,NLRC5,RSPRY1 chr16 57111359 57221251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE2,FAM192A,NLRC5,RSPRY1 chr16 57136506 57433538 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARL2BP,CCL22,CPNE2,CX3CL1,FAM192A,PLLP,RSPRY1 chr16 57139904 57140038 Gain and loss Pancreatic cancer SNP array 17952125 CPNE2 chr16 57139904 57140038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE2 chr16 57143080 57143080 Copy number Prostate cancer Illumina GA II sequencer 21307934 CPNE2 chr16 57151201 57151336 Gain and loss Pancreatic cancer SNP array 17952125 CPNE2 chr16 57151201 57151336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE2 chr16 57165066 57165183 Gain and loss Pancreatic cancer SNP array 17952125 CPNE2 chr16 57165066 57165183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE2 chr16 57172375 57172461 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPNE2 chr16 57184412 57235579 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM192A,RSPRY1 chr16 57196711 57196798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM192A chr16 57199190 57199231 Loss Normal 244K array 17666407 FAM192A chr16 57202901 57209400 Deletion Glioma mate-paired sequence 20126413 FAM192A chr16 57204513 57207559 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM192A chr16 57204688 57207910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM192A chr16 57204692 57207765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM192A chr16 57204829 57207991 Loss or gain Normal 244K array 17666407 FAM192A chr16 57220501 57276500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RSPRY1 chr16 57230273 57233686 Gain Normal 244K array 17666407 RSPRY1 chr16 57231314 57234814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RSPRY1 chr16 57237243 57237326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSPRY1 chr16 57249741 64579967 Loss Prostate cancer Array CGH 18632612 ARL2BP,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH8,CIAPIN1,CNGB1,CNOT1,COQ9,CSNK2A2,CX3CL1,DOK4,GINS3,GOT2,GPR114,GPR56,GPR97,KATNB1,KIFC3,LOC644649,MMP15,NDRG4,PLLP,POLR2C,PRSS54,RSPRY1,SETD6,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 57257799 57276175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSPRY1 chr16 57257799 57276175 Gain and loss Pancreatic cancer SNP array 17952125 RSPRY1 chr16 57257799 57276175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSPRY1 chr1 65728392 65759947 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAJC6 chr16 57298535 57325747 Indels Normal Affymetrix 6.0 array 21223598 PLLP chr16 57298538 57325685 Gain and loss Pancreatic cancer SNP array 17952125 PLLP chr16 57298538 57325747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLLP chr16 57298538 57325747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLLP chr16 57320001 57320081 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 57320001 57320081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 57320019 57350992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 57323785 57323855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 57335656 57335762 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 57335656 57335762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 57335657 57335762 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 6573371 6585648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOL9,PLEKHG5 chr1 6573371 6585648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL9,PLEKHG5 chr16 57341114 57341527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 57341114 57341527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 57358412 57358467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 57361929 57362223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 57361936 57362225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 57361936 57362225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 57363489 57372424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 57368047 57368968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 57368458 57368968 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 57377060 57377134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 57400000 66700000 Loss Autism References 18414403 BEAN1,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH5,CDH8,CIAPIN1,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,COQ9,CSNK2A2,CX3CL1,DOK4,GINS3,GOT2,GPR114,GPR56,GPR97,KATNB1,KIFC3,LOC100505865,LOC283867,LOC644649,MMP15,NDRG4,POLR2C,PRSS54,SETD6,SLC38A7,SNORA46,SNORA50,TEPP,TK2,USB1,ZNF319 chr16 57400000 66700000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 BEAN1,C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CCL22,CDH11,CDH5,CDH8,CIAPIN1,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,COQ9,CSNK2A2,CX3CL1,DOK4,GINS3,GOT2,GPR114,GPR56,GPR97,KATNB1,KIFC3,LOC100505865,LOC283867,LOC644649,MMP15,NDRG4,POLR2C,PRSS54,SETD6,SLC38A7,SNORA46,SNORA50,TEPP,TK2,USB1,ZNF319 chr16 57400000 72900000 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 AARS,ACD,AGRP,AP1G1,ATP6V0D1,ATXN1L,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf80,C16orf86,CA7,CALB2,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES2,CES3,CES4A,CHST4,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18C,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,COG4,COG8,COQ9,CSNK2A2,CTCF,CTRL,CX3CL1,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FTSJD1,FUK,GFOD2,GINS3,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSD11B2,HSF4,HYDIN,IL34,IST1,KATNB1,KCTD19,KIAA0895L,KIFC3,LCAT,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC283867,LOC644649,LRRC29,LRRC36,MARVELD3,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MMP15,MTSS1L,NAE1,NDRG4,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L3,PLA2G15,PLEKHG4,PMFBP1,POLR2C,PRMT7,PRSS54,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SETD6,SF3B3,SLC12A4,SLC38A7,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,TAT,TEPP,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,TXNL4B,USB1,VAC14,VPS4A,WWP2,ZDHHC1,ZFHX3,ZFP90,ZNF19,ZNF23,ZNF319,ZNF821 chr16 57400000 90354753 Deletion Prostate cancer Affymetrix 50K SNP mapping array 17245344 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE7,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC400558,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SETD6,SF3B3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 57400000 90354753 Gain Basal cell lymphoma Array CGH 16317097 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE7,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC400558,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SETD6,SF3B3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 57400000 90354753 Gain Diffuse large b-cell lymphoma Array CGH 16317097 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE7,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC400558,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SETD6,SF3B3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 57400000 90354753 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE7,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC400558,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SETD6,SF3B3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 57400000 90354753 Loss Basal cell lymphoma Array CGH 16317097 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE7,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC400558,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SETD6,SF3B3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 57400000 90354753 Loss Diffuse large b-cell lymphoma Array CGH 16317097 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE7,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC400558,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SETD6,SF3B3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 57400000 90354753 Loss Endometrioid adenocarcinoma CGH 16974079 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE7,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC400558,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SETD6,SF3B3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 57400000 90354753 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf80,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNGB1,CNOT1,CNTNAP4,COG4,COG8,COQ9,COTL1,COX4I1,CPNE7,CRISPLD2,CSNK2A2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GINS3,GLG1,GOT2,GPR114,GPR56,GPR97,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KATNB1,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KIFC3,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC400558,LOC644649,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MMP15,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NDRG4,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,POLR2C,PRDM7,PRMT7,PRSS54,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SETD6,SF3B3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TEPP,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USB1,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF319,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 57407780 57407990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CX3CL1 chr16 57409548 57409638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CX3CL1 chr16 57418782 65034312 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 C16orf80,CCDC102A,CCDC113,CCDC135,CCL17,CDH11,CDH8,CIAPIN1,CNGB1,CNOT1,COQ9,CSNK2A2,CX3CL1,DOK4,GINS3,GOT2,GPR114,GPR56,GPR97,KATNB1,KIFC3,LOC644649,MMP15,NDRG4,POLR2C,PRSS54,SETD6,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 57434046 57965843 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC102A,CCDC135,CCL17,CIAPIN1,CNGB1,COQ9,DOK4,GPR114,GPR56,GPR97,KATNB1,KIFC3,POLR2C chr16 57483910 57483929 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 COQ9 chr16 57484144 57484241 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COQ9 chr1 65749253 65749355 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC6 chr16 57496517 57496605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLR2C chr16 5750689 5750790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 57560000 58960000 Loss Acute lymphoblastic leukemia - 21339820 C16orf80,CCDC102A,CCDC113,CCDC135,CNGB1,CNOT1,CSNK2A2,GINS3,GOT2,GPR114,GPR56,GPR97,KATNB1,KIFC3,MMP15,NDRG4,PRSS54,SETD6,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 57595380 57595504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR114 chr16 57598977 57599075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR114 chr16 57602586 57632359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR114 chr16 57623929 59070656 Loss Urothelial carcinoma array CGH validated by FISH 21177765 C16orf80,CCDC113,CCDC135,CNGB1,CNOT1,CSNK2A2,GINS3,GOT2,GPR56,GPR97,KATNB1,KIFC3,MMP15,NDRG4,PRSS54,SETD6,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 57645879 57645934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 57699639 57699714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 57822431 57822469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIFC3 chr16 57836994 57837086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 57889676 60286073 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C16orf80,CCDC113,CNGB1,CNOT1,CSNK2A2,GINS3,GOT2,LOC644649,MMP15,NDRG4,PRSS54,SETD6,SLC38A7,SNORA46,SNORA50,TEPP,USB1,ZNF319 chr16 57896745 57896845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 579001 608500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3176,MIR5587,SOLH chr16 57904957 57905028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 57954500 57954577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNGB1 chr1 65796703 65804087 Gain Normal Birdsuite, version 1.5.2 22087296 DNAJC6 chr1 65796761 65802871 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DNAJC6 chr1 65796762 65802855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAJC6 chr16 57984316 57984425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNGB1 chr16 58000684 58001249 Gain and loss Pancreatic cancer SNP array 17952125 CNGB1 chr16 580107 619273 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 C16orf11,MIR3176,MIR5587,NHLRC4,SOLH chr16 58013414 58038992 Gain and loss Pancreatic cancer SNP array 17952125 TEPP,USB1,ZNF319 chr16 580177 619272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf11,MIR3176,MIR5587,NHLRC4,SOLH chr16 580177 619272 Gain and loss Pancreatic cancer SNP array 17952125 C16orf11,MIR3176,MIR5587,NHLRC4,SOLH chr16 580177 619272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf11,MIR3176,MIR5587,NHLRC4,SOLH chr1 65804087 65999483 Gain Normal Birdsuite, version 1.5.2 22087296 DNAJC6,LEPR,LEPROT chr16 5804223 5804323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 5805523 5805616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 58076469 58076569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MMP15 chr16 58097404 58097504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65809820 65809922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC6 chr16 58131531 58131671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 58131531 58131671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 58131531 58131674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 65813528 65816490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAJC6 chr16 58138115 67646882 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf70,C16orf80,CA7,CBFB,CCDC113,CCDC79,CDH11,CDH16,CDH5,CDH8,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNOT1,CSNK2A2,CTCF,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GINS3,GOT2,HSD11B2,HSF4,KCTD19,KIAA0895L,LOC100505865,LOC283867,LOC644649,LRRC29,LRRC36,MIR328,NAE1,NDRG4,NOL3,PDP2,PLEKHG4,PRSS54,RRAD,SETD6,SLC38A7,SLC9A5,SNORA46,SNORA50,TK2,TMEM208,TPPP3,TRADD,ZDHHC1 chr1 65814400 65816651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC6 chr16 58144994 58145059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 58227105 58735188 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC113,CNOT1,CSNK2A2,GINS3,NDRG4,PRSS54,SETD6,SLC38A7,SNORA46,SNORA50 chr1 65825934 65826034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJC6 chr16 582611 856123 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C16orf11,C16orf13,CCDC78,CHTF18,FAM173A,FAM195A,FBXL16,GNG13,HAGHL,JMJD8,METRN,MIR3176,MIR5587,MIR662,MSLN,NARFL,NHLRC4,PIGQ,PRR25,RAB40C,RHBDL1,RHOT2,RPUSD1,SOLH,STUB1,WDR24,WDR90,WFIKKN1 chr16 58277518 58277595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65828530 65851742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAJC6 chr16 583059 29546342 Deletion Autism Array CGH 22102821 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARL6IP1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,BAIAP3,BCAR4,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO7,CORO7-PAM16,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,DCTN5,DCUN1D3,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM86A,FBXL16,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,GDE1,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HCFC1R1,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,IQCK,ITPRIPL2,JMJD8,KCTD5,KDM8,KIAA0430,KIAA0556,KREMEN2,LAT,LCMT1,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC388242,LOC440335,LOC440354,LOC554206,LOC606724,LOC613038,LOC652276,LOC653786,LOC81691,LYRM1,MAPK8IP3,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR940,MKL2,MLST8,MMP25,MPV17L,MRPS34,MSLN,MSRB1,MTRNR2L4,MYH11,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,OTOA,PALB2,PAM16,PAQR4,PARN,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,PPL,PRKCB,PRM1,PRM2,PRM3,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RHBDL1,RHOT2,RMI2,RNF151,RNPS1,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPT12,SH2B1,SHISA9,SLC5A11,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA64,SNORA78,SNORD60,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPNS1,SPSB3,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TBC1D24,TBL3,TCEB2,TEKT5,TELO2,TFAP4,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,ZC3H7A,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF434,ZNF500,ZNF597,ZNF598,ZNF75A,ZP2,ZSCAN10 chr16 58322760 58322848 Gain and loss Pancreatic cancer SNP array 17952125 PRSS54 chr16 58322760 58322859 Gain and loss Pancreatic cancer SNP array 17952125 PRSS54 chr16 58322760 58322869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRSS54 chr16 58361199 58370424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 58364201 58368200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 58365815 58366327 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 58400001 69400000 Loss Leiomyosarcoma array CGH 16982739 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CNOT1,COG8,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,GINS3,GOT2,HAS3,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LOC100505865,LOC283867,LOC644649,LRRC29,LRRC36,MIR328,NAE1,NDRG4,NFATC3,NIP7,NOL3,NRN1L,NUTF2,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SETD6,SLC12A4,SLC38A7,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA46,SNORA50,SNTB2,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VPS4A,ZDHHC1,ZFP90 chr1 65842178 66366843 LOH Normal High-resolution SNP genotyping 21211785 DNAJC6,LEPR,LEPROT,PDE4B chr16 58472115 58472202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 58485338 58485406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65850835 65850993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAJC6 chr16 5851107 5851207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65851742 65852015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAJC6 chr1 65851743 65852019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAJC6 chr16 58588699 59680956 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 CNOT1,GOT2,SLC38A7,SNORA50 chr16 58589584 58589897 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNOT1 chr1 6586001 6633000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOL9,TAS1R1 chr16 58605519 58605619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNOT1 chr16 58638645 58658275 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CNOT1 chr16 58638645 58658275 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 CNOT1 chr16 58640103 58640107 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CNOT1 chr16 58640107 58654487 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CNOT1 chr16 58724527 60547472 Deletion Autism 2M single nucleotide polymorphism (SNP) technology, array comparative genomic hybridisation (CGH), long-range PCR, Sanger sequencing 20972252 GOT2,LOC644649 chr16 58724527 60547472 Deletion Invasive breast cancer 2M single nucleotide polymorphism (SNP) technology, array comparative genomic hybridisation (CGH), long-range PCR, Sanger sequencing 20972252 GOT2,LOC644649 chr1 65872786 65873068 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DNAJC6 chr1 6587691 6597327 Gain and loss Pancreatic cancer SNP array 17952125 NOL9 chr16 58812289 62127751 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CDH8,LOC644649 chr16 58849369 58849458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 58949501 58952000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 58949782 58950885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 58955027 58955128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 58978208 63997630 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH8,LOC644649 chr1 65898202 65908125 Copy number gain Normal High-resolution SNP genotyping 21211785 LEPR,LEPROT chr16 58984786 59679485 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 65900166 65901442 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LEPR,LEPROT chr1 65901442 68405446 LOH Normal High-resolution SNP genotyping 21211785 C1orf141,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INSL5,LEPR,LEPROT,MIER1,MIR3117,PDE4B,SERBP1,SGIP1,SLC35D1,TCTEX1D1,WDR78 chr16 59024229 59024930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 65907829 65909455 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LEPR chr1 65907829 65909455 Copy number loss Normal High-resolution SNP genotyping 21211785 LEPR chr16 590789 739373 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C16orf11,C16orf13,FAM195A,JMJD8,MIR3176,NHLRC4,PIGQ,RAB40C,RHBDL1,RHOT2,SOLH,STUB1,WDR24,WDR90,WFIKKN1 chr16 590789 780379 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C16orf11,C16orf13,CCDC78,FAM173A,FAM195A,FBXL16,HAGHL,JMJD8,METRN,MIR3176,NARFL,NHLRC4,PIGQ,RAB40C,RHBDL1,RHOT2,SOLH,STUB1,WDR24,WDR90,WFIKKN1 chr16 59082658 59082753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65908301 65908631 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LEPR chr16 590873 672032 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C16orf11,MIR3176,NHLRC4,PIGQ,RAB40C,SOLH chr1 65909455 68405446 LOH Normal High-resolution SNP genotyping 21211785 C1orf141,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INSL5,LEPR,MIER1,MIR3117,PDE4B,SERBP1,SGIP1,SLC35D1,TCTEX1D1,WDR78 chr16 59169360 59170932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 59190748 59190848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59205171 59350595 Amplification Breast cancer FISH 17142309 NOT_FOUND chr16 59220591 59254728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 59284498 59284587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59298669 59298769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59302878 59347810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 593556 593905 Gain and loss Pancreatic cancer SNP array 17952125 SOLH chr16 593556 593905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOLH chr16 59357232 59357332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59364195 60612397 Deletion Breast cancer FISH 17142309 LOC644649 chr1 65938762 65939053 Gain and loss Pancreatic cancer SNP array 17952125 LEPR chr16 59402784 59402854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 5941798 5941847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 65943701 77157200 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACADM,ANKRD13C,ASB17,C1orf141,C1orf173,CRYZ,CTH,DEPDC1,DIRAS3,FPGT,FPGT-TNNI3K,GADD45A,GNG12,GNG12-AS1,HHLA3,IL12RB2,IL23R,INSL5,LEPR,LHX8,LRRC40,LRRC7,LRRIQ3,MIER1,MIR1262,MIR186,MIR3117,MSH4,NEGR1,NEGR1-IT1,PDE4B,PIN1P1,PTGER3,RABGGTB,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,TCTEX1D1,TNNI3K,TYW3,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr16 59438784 59438862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 59445107 59445207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 5945501 8247800 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX1 chr16 59467538 59471424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 59472508 59472583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59506891 59647107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 59511715 59511865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59527361 59527460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 5953048 5953148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59560085 59560135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 5957777 6619303 Gain Non-syndromic sensorineural hearing loss array CGH 18496225 RBFOX1 chr16 5961698 5963521 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 6596332 6606643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOL9 chr1 6596332 6606643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL9 chr16 59646850 59647319 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 59712780 59712880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59718088 59718183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 59731687 59731745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 59759400 59759717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 5976689 5999761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 59768575 59768664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 5984488 6170059 Loss Autism - 20841430 RBFOX1 chr16 59874592 61294302 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr16 59930821 59932053 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 5996067 6407032 Loss Bladder cancer array-CGH 21909424 RBFOX1 chr1 65999329 65999620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEPR chr1 65999331 65999623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEPR chr16 6000000 6720000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 RBFOX1 chr16 60000 32290000 Gain Breast cancer aCGH 21509527 ABAT,ABCA17P,ABCA3,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY9,AHSP,ALDOA,ALG1,AMDHD2,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARHGDIG,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATXN2L,AXIN1,BAIAP3,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf11,C16orf13,C16orf45,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf71,C16orf72,C16orf79,C16orf82,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CACNA1H,CACNG3,CARHSP1,CASKIN1,CCDC101,CCDC154,CCDC64B,CCDC78,CCNF,CCP110,CD19,CD2BP2,CDIPT,CDR2,CEMP1,CHP2,CHTF18,CIITA,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,COG7,COQ7,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPPED1,CRAMP1L,CREBBP,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DDX11L10,DECR2,DEXI,DNAH3,DNAJA3,DNASE1,DNASE1L2,DOC2A,E4F1,EARS2,ECI1,EEF2K,EIF3C,EIF3CL,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,FAHD1,FAM100A,FAM173A,FAM18A,FAM195A,FAM57B,FAM86A,FBRS,FBXL16,FBXL19,FBXL19-AS1,FLJ21408,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FUS,GDE1,GDPD3,GFER,GGA2,GLIS2,GLYR1,GNG13,GNPTG,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HERC2P4,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD3B7,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,ITFG3,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KCTD13,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,KREMEN2,LAT,LCMT1,LINC00235,LINC00254,LINC00514,LITAF,LMF1,LOC100128770,LOC100132247,LOC100134368,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100507501,LOC100862671,LOC388242,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LUC7L,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR193B,MIR3176,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR365A,MIR3677,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR5587,MIR662,MIR762,MIR940,MKL2,MLST8,MMP25,MPG,MPV17L,MRPL28,MRPS34,MSLN,MSRB1,MTRNR2L4,MVP,MYH11,MYLPF,NAA60,NAGPA,NAGPA-AS1,NARFL,NDE1,NDUFAB1,NDUFB10,NFATC2IP,NHLRC4,NLRC3,NME3,NME4,NMRAL1,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPRL3,NPW,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUPR1,OR1F1,OR1F2P,OR2C1,ORAI3,OTOA,PALB2,PAM16,PAQR4,PARN,PDIA2,PDILT,PDPK1,PDXDC1,PDZD9,PGP,PHKG2,PIGQ,PKD1,PKD1P1,PKMYT1,PLA2G10,PLK1,PMM2,POLR3E,POLR3K,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB11FIP3,RAB26,RAB40C,RABEP2,RBBP6,RBFOX1,RGS11,RHBDF1,RHBDL1,RHOT2,RMI2,RNF151,RNF40,RNPS1,ROGDI,RPL3L,RPS15A,RPS2,RPUSD1,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA64,SNORA78,SNORD60,SNRNP25,SNX29,SNX29P1,SNX29P2,SOCS1,SOLH,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TFAP4,TGFB1I1,THOC6,THUMPD1,TIGD7,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM219,TMEM8A,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TRAP1,TRIM72,TSC2,TSR3,TUFM,TXNDC11,UBE2I,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USP31,USP7,VASN,VKORC1,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 60010293 60010465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 60025584 61667839 Deletion Autism 1M single nucleotide polymorphism (SNP) technology, array comparative genomic hybridisation (CGH), long-range PCR, Sanger sequencing 20972252 NOT_FOUND chr16 60025584 61667839 Deletion Invasive breast cancer 1M single nucleotide polymorphism (SNP) technology, array comparative genomic hybridisation (CGH), long-range PCR, Sanger sequencing 20972252 NOT_FOUND chr16 60027157 61668976 Loss Autism LR 20531469 NOT_FOUND chr16 60028384 60028469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 600401 604400 Deletion Glioma mate-paired sequence 20126413 SOLH chr16 60040976 60041109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 6009133 7702500 Deletion T-cell lymphomas Array-CGH 22341440 RBFOX1 chr16 6009501 6011000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 60120696 60145151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 60142000 61582000 Loss Autism Array CGH 18522746 NOT_FOUND chr16 601597 602043 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SOLH chr16 60164222 60164322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 60198487 61736238 LOH Normal - 20944671 CDH8 chr16 60244866 60628240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 60244866 60628240 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 60244866 60628240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 60264962 60265062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 60270894 60322602 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr16 60290000 88150000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AARS,ACD,ADAD2,ADAMTS18,ADAT1,AGRP,AP1G1,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf46,C16orf48,C16orf70,C16orf74,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFB,CCDC79,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNTNAP4,COG4,COG8,COTL1,COX4I1,CRISPLD2,CTCF,CTRB1,CTRB2,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DNAAF1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GLG1,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR5093,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,NAE1,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RRAD,SDR42E1,SF3B3,SLC12A4,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAF1C,TAT,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TSNAXIP1,TXNL4B,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZNF19,ZNF23,ZNF821,ZNRF1 chr1 66030785 66612850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LEPR,PDE4B chr1 66030785 66612850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEPR,PDE4B chr16 60329845 60329945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 60334555 60334881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 60334559 60334881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 66033488 67659620 LOH Normal High-resolution SNP genotyping 21211785 C1orf141,IL23R,INSL5,LEPR,MIER1,MIR3117,PDE4B,SGIP1,SLC35D1,TCTEX1D1,WDR78 chr1 66033488 67708128 LOH Normal High-resolution SNP genotyping 21211785 C1orf141,IL23R,INSL5,LEPR,MIER1,MIR3117,PDE4B,SGIP1,SLC35D1,TCTEX1D1,WDR78 chr16 60357835 60391854 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 60387903 60418094 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 60423394 60423494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 60452011 60452092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 60461115 60461208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 60539214 60553542 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 66055740 66055939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEPR chr16 60604363 60604695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 60607859 60607927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 66061887 66061987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEPR chr16 60626501 60628500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 6072599 6783832 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 RBFOX1 chr1 6607513 6618219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOL9,TAS1R1 chr1 6607513 6618219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL9,TAS1R1 chr16 60778945 60779051 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 60778945 60779051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 60782638 62116021 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDH8 chr1 6608011 6618322 Gain and loss Pancreatic cancer SNP array 17952125 NOL9,TAS1R1 chr16 60811600 63807800 Loss Prostate cancer Array CGH 18632612 CDH8 chr16 60811618 64579967 Loss Prostate cancer Array CGH 18632612 CDH8 chr16 60834756 62160761 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 CDH8 chr16 608501 724500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf11,C16orf13,FAM195A,NHLRC4,PIGQ,RAB40C,RHOT2,WDR90,WFIKKN1 chr1 66091019 66552280 Gain and loss Pancreatic cancer SNP array 17952125 LEPR,PDE4B chr16 6093705 6094705 Gain Osteosarcoma References 21215367 RBFOX1 chr16 60937490 60964468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 60948776 60949151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 60976873 60977189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 66101487 66101586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEPR chr16 61031666 61031765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 61071571 61117182 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 61073871 61112899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 6107679 6107779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 61079107 61079207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 61086020 61109247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 61091995 61092198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 61092196 61092336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 61092200 61092380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 61096605 88552724 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AARS,ACD,ADAD2,ADAMTS18,ADAT1,AGRP,AP1G1,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf46,C16orf48,C16orf70,C16orf74,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFB,CCDC79,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDYL2,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNTNAP4,COG4,COG8,COTL1,COX4I1,CRISPLD2,CTCF,CTRB1,CTRB2,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DNAAF1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GLG1,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,NAE1,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RRAD,SDR42E1,SF3B3,SLC12A4,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAF1C,TAT,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TSNAXIP1,TXNL4B,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF469,ZNF821,ZNRF1 chr16 61100001 61110100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 61101677 61108225 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 61101677 61108225 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 61101677 61108225 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 61101832 61108160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 61101834 61108170 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 61101872 61108164 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 61101992 61108225 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 61165340 61210704 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 61272973 61273073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 61417366 61417453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 61427634 64760270 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDH8 chr16 61454489 62121099 LOH Normal High-resolution SNP genotyping 21211785 CDH8 chr16 61503715 61503815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 61515756 61871277 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CDH8 chr16 6161100 6195634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBFOX1 chr16 61650712 61824330 Loss Autism qPCR 20531469 CDH8 chr16 6165930 337544445 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AARS,ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSF3,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AFG3L1P,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD11,ANKRD26P1,ANKS4B,AP1G1,APOBR,APRT,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BANP,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf3,C16orf45,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf55,C16orf58,C16orf62,C16orf7,C16orf70,C16orf72,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA5A,CA7,CACNG3,CALB2,CAPNS2,CARHSP1,CBFA2T3,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH15,CDH16,CDH3,CDH5,CDH8,CDIPT,CDK10,CDR2,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHMP1A,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPNE7,CPPED1,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CTU2,CX3CL1,CYB5B,CYBA,CYLD,DBNDD1,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEF8,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EMP2,ERCC4,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM18A,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FANCA,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GALNS,GAN,GAS8,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL17C,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00304,LINC00311,LITAF,LOC100128881,LOC100129617,LOC100130015,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100287036,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC400558,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,MC1R,METTL22,METTL9,MGC23284,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3182,MIR328,MIR365A,MIR3935,MIR4517,MIR4518,MIR4519,MIR4718,MIR4719,MIR4720,MIR4721,MIR4722,MIR484,MIR5093,MIR5189,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MPV17L,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVD,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAE1,NDE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NQO1,NRN1L,NSMCE1,NTAN1,NUBP1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PABPN1L,PALB2,PAPD5,PARD6A,PARN,PDF,PDILT,PDP2,PDPR,PDXDC1,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PKD1P1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,PPP4C,PRDM7,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RFWD3,RLTPR,RMI2,RNA5SP411,RNF166,RNF40,RNU6-76,RPGRIP1L,RPL13,RPS15A,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC22A31,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1,SMG1P1,SMPD3,SNAI3,SNN,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SPATA2L,SPG7,SPIRE2,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TCF25,TEKT5,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM114,TMEM159,TMEM170A,TMEM186,TMEM208,TMEM219,TMEM231,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRAPPC2L,TRIM72,TSNAXIP1,TUBB3,TUFM,TXNDC11,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H18,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF276,ZNF319,ZNF423,ZNF469,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF778,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 61660222 61660322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6616818 6684460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHL21,PHF13,TAS1R1,ZBTB48 chr1 6616818 6684460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL21,PHF13,TAS1R1,ZBTB48 chr16 61705688 61705788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH8 chr16 61806791 61806871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH8 chr16 6184030 6185030 Gain Osteosarcoma References 21215367 RBFOX1 chr16 61854113 61854236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH8 chr16 6185476 6186476 Loss Osteosarcoma References 21215367 RBFOX1 chr16 61856015 61856115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH8 chr16 61924339 61969205 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH8 chr16 61943892 77781805 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AARS,ACD,ADAMTS18,ADAT1,AGRP,AP1G1,ATP6V0D1,ATXN1L,B3GNT9,BCAR1,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CALB2,CBFB,CCDC79,CDH1,CDH11,CDH16,CDH3,CDH5,CDH8,CENPT,CES2,CES3,CES4A,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CMTM1,CMTM2,CMTM3,CMTM4,CNTNAP4,COG4,COG8,CTCF,CTRB1,CTRB2,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM96B,FBXL8,FHOD1,FTSJD1,FUK,GABARAPL2,GFOD2,GLG1,HAS3,HP,HPR,HSD11B2,HSF4,HTA,HYDIN,IL34,IST1,KARS,KCTD19,KIAA0895L,LCAT,LDHD,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC283867,LOC283922,LRRC29,LRRC36,MARVELD3,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MIR4719,MLKL,MON1B,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L3,PLA2G15,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAT,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TSNAXIP1,TXNL4B,VAC14,VPS4A,WDR59,WWP2,ZDHHC1,ZFHX3,ZFP1,ZFP90,ZNF19,ZNF23,ZNF821,ZNRF1 chr1 6619518 6629887 Gain and loss Pancreatic cancer SNP array 17952125 TAS1R1 chr16 61985234 62250890 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CDH8 chr16 61999925 62000254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH8 chr16 62033512 62033612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH8 chr16 62070545 62070624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH8 chr16 620933 624117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGQ chr16 620933 624117 Gain and loss Pancreatic cancer SNP array 17952125 PIGQ chr16 620933 624117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGQ chr16 62094160 62106840 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 62129610 62129705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 6217951 6218051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 6218006 6218106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 62197881 63191894 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr16 62208501 62210000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 62213442 62257672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 6227135 6227201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 62313808 62313889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 624429 626348 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PIGQ chr16 624430 626343 Gain and loss Pancreatic cancer SNP array 17952125 PIGQ chr16 624430 626348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGQ chr16 624430 626348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGQ chr16 6244340 6245340 Gain Osteosarcoma References 21215367 RBFOX1 chr16 62458891 62888624 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 62458891 62889004 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 62458891 62889370 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 62458891 62892164 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 62462195 62889004 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 62510000 63810000 Loss Acute lymphoblastic leukemia - 21339820 NOT_FOUND chr16 6254936 6359431 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBFOX1 chr16 6258194 6281329 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBFOX1 chr16 62591051 62606391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 625958 626028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIGQ chr16 62605856 62612148 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 66272112 66272250 Gain and loss Pancreatic cancer SNP array 17952125 PDE4B chr1 66272179 66272250 Gain and loss Pancreatic cancer SNP array 17952125 PDE4B chr16 62733619 62733703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 6280090 6280388 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX1 chr16 62818209 62818309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6628495 6696145 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC11,KLHL21,PHF13,TAS1R1,THAP3,ZBTB48 chr16 62851971 62852425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 66286674 66286760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 62871893 62871978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 62918143 62918243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 6300000 10300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABAT,C16orf72,CARHSP1,GRIN2A,METTL22,MIR548X,PMM2,RBFOX1,TMEM114,TMEM186,USP7 chr16 6300000 10300000 Copy number Normal - 21701786 ABAT,C16orf72,CARHSP1,GRIN2A,METTL22,MIR548X,PMM2,RBFOX1,TMEM114,TMEM186,USP7 chr16 6300000 10300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABAT,C16orf72,CARHSP1,GRIN2A,METTL22,MIR548X,PMM2,RBFOX1,TMEM114,TMEM186,USP7 chr16 6300000 10300000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABAT,C16orf72,CARHSP1,GRIN2A,METTL22,MIR548X,PMM2,RBFOX1,TMEM114,TMEM186,USP7 chr16 6300000 10300000 Loss Malignant fibrous histiocytomas aCGH 21085701 ABAT,C16orf72,CARHSP1,GRIN2A,METTL22,MIR548X,PMM2,RBFOX1,TMEM114,TMEM186,USP7 chr16 6300000 12500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABAT,ATF7IP2,BCAR4,C16orf72,CARHSP1,CIITA,CLEC16A,DEXI,EMP2,FAM18A,GRIN2A,GSPT1,LITAF,METTL22,MIR548X,NUBP1,PMM2,PRM1,PRM2,PRM3,RBFOX1,RMI2,RSL1D1,SNN,SNX29,SOCS1,TEKT5,TMEM114,TMEM186,TNFRSF17,TNP2,TXNDC11,USP7,ZC3H7A chr16 63082383 63082458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 631040 631689 Gain and loss Pancreatic cancer SNP array 17952125 PIGQ chr16 631040 631689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGQ chr16 63130000 64130000 Loss Breast cancer aCGH 21509527 NOT_FOUND chr16 63146550 63148485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 63148002 63148102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 631850 638475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGQ chr16 631850 638475 Gain and loss Pancreatic cancer SNP array 17952125 PIGQ chr16 631850 638475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGQ chr16 63254308 63254396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63273155 63273255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63302284 63302384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 66332696 66332817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4B chr16 63328276 63328688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 6334356 6573261 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 RBFOX1 chr16 63452171 63612645 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr16 63470220 63470320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63483786 65297573 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CDH11 chr16 63523469 63523569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63535157 63713440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 63535157 63713440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 63538183 63713420 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 63538183 63713420 Gain or loss Cancer - 20668451 NOT_FOUND chr16 63538183 63713420 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 63538183 63713420 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 63538183 63713420 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 63538183 63713420 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 63538186 63713420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 63553470 63553570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63557284 63557384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63608516 63608611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63629477 63663606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 63636377 63636457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63641705 63649308 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 6367765 6369683 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX1 chr16 63712001 63714500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 63714501 63718000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 66373972 66374057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 63751244 63751344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63764050 64760270 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr16 63771018 63771118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63834097 63834247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 63870700 63896012 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 63916434 63961301 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 639312 653439 Gain and loss Pancreatic cancer SNP array 17952125 RAB40C chr16 639364 657830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 639364 657830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 639847 2067671 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 BAIAP3,C16orf13,C16orf91,C1QTNF8,CACNA1H,CCDC154,CCDC78,CHTF18,CLCN7,CRAMP1L,EME2,FAHD1,FAM173A,FAM195A,FBXL16,GFER,GNG13,GNPTG,HAGH,HAGHL,HN1L,HS3ST6,IFT140,IGFALS,JMJD8,LINC00254,LMF1,MAPK8IP3,MEIOB,METRN,MIR3177,MIR662,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NME3,NOXO1,NUBP2,PRR25,PTX4,RAB40C,RHBDL1,RHOT2,RNF151,RPL3L,RPS2,RPUSD1,SNHG9,SNORA10,SNORA64,SNORA78,SOX8,SPSB3,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBL3,TELO2,TMEM204,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZNF598 chr16 63997630 65886963 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH11,LOC283867 chr16 64003601 64003701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 64012260 64040388 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 64023814 64023914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 66406105 66406199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 64061421 64061521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 64068495 64585763 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1069K arrays 21546498 NOT_FOUND chr16 6407248 6407303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 64077500 64077820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 64113912 64622817 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 66414001 66436641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE4B chr16 64163521 64163621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 64170744 64170844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 64173354 64173543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 64173582 64173729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 66429317 66429417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 64380705 64380805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 64446819 64448584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 64449195 64449295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 64460000 66570000 Loss Breast cancer aCGH 21509527 BEAN1,CDH11,CDH5,LOC100505865,LOC283867,TK2 chr16 64552948 64553023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 64572910 64598247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 64607380 64607468 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 64658900 64672826 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr16 64707553 64740888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 64751347 65287109 LOH Normal High-resolution SNP genotyping 21211785 CDH11 chr16 64752110 64764278 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 64755822 64931068 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr16 64830262 67237770 LOH Normal High-resolution SNP genotyping 21211785 B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH11,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM96B,FBXL8,HSF4,KIAA0895L,LOC100505865,LOC283867,MIR328,NAE1,NOL3,PDP2,RRAD,TK2,TRADD chr16 64832577 67033194 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH11,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 64834054 67033194 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH11,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 64849001 65068500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH11 chr16 64893213 64893302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 64893213 64893328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 64893213 64893328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 64902354 66257342 LOH Normal High-resolution SNP genotyping 21211785 CDH11,LOC283867 chr16 64919562 64953320 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 64952312 69066728 Gain Prostate cancer Array CGH 18632612 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH11,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NFATC3,NOL3,NRN1L,NUTF2,PARD6A,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,THAP11,TK2,TMCO7,TMEM208,TPPP3,TRADD,TSNAXIP1,ZDHHC1,ZFP90 chr16 64958025 64996190 Gain or loss Breast cancer - 20668451 CDH11 chr16 64958025 64996190 Gain or loss Cancer - 20668451 CDH11 chr16 64958025 64996190 Gain or loss Lung cancer - 20668451 CDH11 chr16 64958025 64996190 Gain or loss Ovarian cancer - 20668451 CDH11 chr16 64958025 64996190 Gain or loss Pancreas cancer - 20668451 CDH11 chr16 64958025 64996190 Gain or loss Prostate cancer - 20668451 CDH11 chr16 64958064 64996186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 64958064 64996186 Gain and loss Pancreatic cancer SNP array 17952125 CDH11 chr16 64958064 64996186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 64971994 66851561 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH11,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 64984919 64985019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH11 chr16 65011521 65045209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH11 chr16 65014125 66888644 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH11,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65018740 65074245 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CDH11 chr16 65032225 66851561 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH11,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65037441 66899266 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH11,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65039618 66851561 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH11,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65039618 67237770 LOH Normal High-resolution SNP genotyping 21211785 B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH11,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM96B,FBXL8,HSF4,KIAA0895L,LOC100505865,LOC283867,MIR328,NAE1,NOL3,PDP2,RRAD,TK2,TRADD chr16 65042866 66851561 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH11,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65051732 66851561 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH11,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65061008 65074230 Gain and loss Pancreatic cancer SNP array 17952125 CDH11 chr16 65061009 65073673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 65068501 65073500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH11 chr16 65071460 65071560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH11 chr16 65072687 66851561 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH11,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65073501 65206000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH11 chr16 65075948 65076553 Gain and loss Pancreatic cancer SNP array 17952125 CDH11 chr16 65093251 65128488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH11 chr16 65100853 65141816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 65100853 65141816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 65102155 65141816 Gain and loss Pancreatic cancer SNP array 17952125 CDH11 chr16 65121937 65122020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH11 chr16 65124361 67216846 LOH Normal High-resolution SNP genotyping 21211785 B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH11,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,FBXL8,HSF4,KIAA0895L,LOC100505865,LOC283867,NAE1,NOL3,PDP2,RRAD,TK2,TRADD chr16 65140663 65141816 Gain and loss Pancreatic cancer SNP array 17952125 CDH11 chr16 65141016 66995406 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH11,CDH16,CDH5,CES2,CES3,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65141861 65141971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 65141862 65141970 Gain and loss Pancreatic cancer SNP array 17952125 CDH11 chr16 65141862 65141970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 65143967 65161194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 65143967 65161194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH11 chr16 65143971 65170537 Gain and loss Pancreatic cancer SNP array 17952125 CDH11 chr16 65156475 65173334 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 65157795 65170535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65157795 65170535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65162665 65764903 LOH Normal High-resolution SNP genotyping 21211785 LOC283867 chr16 65164545 66851561 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65170852 65179676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65170852 65179676 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65170852 65179676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65195436 65205294 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65195436 65205296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65195436 65205296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65200000 69400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,COG8,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HAS3,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NFATC3,NIP7,NOL3,NRN1L,NUTF2,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNTB2,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VPS4A,ZDHHC1,ZFP90 chr16 65200000 69400000 Deletion Schizophrenia high-density microarrays 22241247 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,COG8,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HAS3,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NFATC3,NIP7,NOL3,NRN1L,NUTF2,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNTB2,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VPS4A,ZDHHC1,ZFP90 chr16 65200000 69400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,COG8,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HAS3,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NFATC3,NIP7,NOL3,NRN1L,NUTF2,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNTB2,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VPS4A,ZDHHC1,ZFP90 chr16 65200000 69400000 Duplication Mental retardation \N 21062444 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,COG8,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HAS3,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NFATC3,NIP7,NOL3,NRN1L,NUTF2,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNTB2,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VPS4A,ZDHHC1,ZFP90 chr16 65200000 69400000 Loss Breast cancer - 16397240 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,COG8,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HAS3,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NFATC3,NIP7,NOL3,NRN1L,NUTF2,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNTB2,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VPS4A,ZDHHC1,ZFP90 chr16 65200000 73300000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 AARS,ACD,AGRP,AP1G1,ATP6V0D1,ATXN1L,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CALB2,CBFB,CCDC79,CDH1,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CHST4,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18C,CMTM1,CMTM2,CMTM3,CMTM4,COG4,COG8,CTCF,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FTSJD1,FUK,GFOD2,HAS3,HP,HPR,HSD11B2,HSF4,HTA,HYDIN,IL34,IST1,KCTD19,KIAA0895L,LCAT,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC283867,LRRC29,LRRC36,MARVELD3,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L3,PLA2G15,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,TAT,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,TXNL4B,VAC14,VPS4A,WWP2,ZDHHC1,ZFHX3,ZFP90,ZNF19,ZNF23,ZNF821 chr16 65200000 73300000 Deletion Infiltrating lobular breast cancer array CGH 19191266 AARS,ACD,AGRP,AP1G1,ATP6V0D1,ATXN1L,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CALB2,CBFB,CCDC79,CDH1,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CHST4,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18C,CMTM1,CMTM2,CMTM3,CMTM4,COG4,COG8,CTCF,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FTSJD1,FUK,GFOD2,HAS3,HP,HPR,HSD11B2,HSF4,HTA,HYDIN,IL34,IST1,KCTD19,KIAA0895L,LCAT,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC283867,LRRC29,LRRC36,MARVELD3,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L3,PLA2G15,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,TAT,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,TXNL4B,VAC14,VPS4A,WWP2,ZDHHC1,ZFHX3,ZFP90,ZNF19,ZNF23,ZNF821 chr16 65200000 73300000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 AARS,ACD,AGRP,AP1G1,ATP6V0D1,ATXN1L,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CALB2,CBFB,CCDC79,CDH1,CDH16,CDH3,CDH5,CENPT,CES2,CES3,CES4A,CHST4,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18C,CMTM1,CMTM2,CMTM3,CMTM4,COG4,COG8,CTCF,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FTSJD1,FUK,GFOD2,HAS3,HP,HPR,HSD11B2,HSF4,HTA,HYDIN,IL34,IST1,KCTD19,KIAA0895L,LCAT,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC283867,LRRC29,LRRC36,MARVELD3,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L3,PLA2G15,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,TAT,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,TXNL4B,VAC14,VPS4A,WWP2,ZDHHC1,ZFHX3,ZFP90,ZNF19,ZNF23,ZNF821 chr16 65200000 88827254 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AARS,ACD,ADAD2,ADAMTS18,ADAT1,AGRP,AP1G1,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf46,C16orf48,C16orf70,C16orf74,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFB,CCDC79,CDH1,CDH13,CDH16,CDH3,CDH5,CDYL2,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNTNAP4,COG4,COG8,COTL1,COX4I1,CRISPLD2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CYB5B,CYBA,DDX19A,DDX19B,DDX28,DHODH,DHX38,DNAAF1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GLG1,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RRAD,SDR42E1,SF3B3,SLC12A4,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAF1C,TAT,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TSNAXIP1,TXNL4B,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF469,ZNF821,ZNRF1 chr16 65200000 88827254 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AARS,ACD,ADAD2,ADAMTS18,ADAT1,AGRP,AP1G1,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,BEAN1,C16orf46,C16orf48,C16orf70,C16orf74,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFB,CCDC79,CDH1,CDH13,CDH16,CDH3,CDH5,CDYL2,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNTNAP4,COG4,COG8,COTL1,COX4I1,CRISPLD2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CYB5B,CYBA,DDX19A,DDX19B,DDX28,DHODH,DHX38,DNAAF1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GFOD2,GINS2,GLG1,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KLHDC4,KLHL36,LCAT,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283867,LOC283922,LOC400548,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RRAD,SDR42E1,SF3B3,SLC12A4,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAF1C,TAT,TERF2,TERF2IP,THAP11,TK2,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TSNAXIP1,TXNL4B,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF469,ZNF821,ZNRF1 chr16 65206155 65288111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65206155 65288111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65206159 65288111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65224076 65224176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 65234781 65234931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 65253149 66569859 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CDH5,LOC100505865,LOC283867,TK2 chr16 65266079 66855477 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65266079 66986611 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH16,CDH5,CES2,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65293379 65296435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 65296755 66623461 Gain Urothelial carcinoma array CGH validated by FISH 21177765 BEAN1,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,LOC100505865,LOC283867,TK2 chr16 65312299 65343026 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LOC283867 chr16 65312301 65343026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65312301 65343026 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65312301 65343026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65349703 65393024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65349703 65393024 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65349703 65393024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65380695 65381028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC283867 chr16 65394279 65422380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65394279 65422380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65394281 65422380 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 LOC283867 chr16 65394284 65422380 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65394536 65401864 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC283867 chr16 65410242 65410341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283867 chr16 65433501 65491500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283867 chr16 65435781 65445545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65435781 65445545 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65435781 65445545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65441886 67620576 LOH Normal High-resolution SNP genotyping 21211785 AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CTCF,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,HSD11B2,HSF4,KCTD19,KIAA0895L,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NOL3,PDP2,PLEKHG4,RRAD,SLC9A5,TK2,TMEM208,TPPP3,TRADD,ZDHHC1 chr16 65471577 66569859 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CDH5,LOC100505865,LOC283867,TK2 chr16 65471577 66851561 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65471577 66855477 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65471577 66888644 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65471577 66969096 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH16,CDH5,CES2,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65471577 66989889 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH16,CDH5,CES2,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65471577 66994200 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH16,CDH5,CES2,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65471577 67111898 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65471577 67406614 LOH Normal High-resolution SNP genotyping 21211785 B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM96B,FBXL8,FHOD1,HSF4,KCTD19,KIAA0895L,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NOL3,PDP2,PLEKHG4,RRAD,SLC9A5,TK2,TMEM208,TRADD chr16 65471577 67614668 LOH Normal High-resolution SNP genotyping 21211785 AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CTCF,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,HSD11B2,HSF4,KCTD19,KIAA0895L,LOC100505865,LOC283867,LRRC29,LRRC36,MIR328,NAE1,NOL3,PDP2,PLEKHG4,RRAD,SLC9A5,TK2,TMEM208,TPPP3,TRADD,ZDHHC1 chr16 65471937 65479356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65471937 65479356 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65471937 65479356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65481962 65482205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283867 chr16 65482187 65482434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283867 chr16 65485602 65560334 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 LOC283867 chr16 65489571 65489671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283867 chr16 65491501 65500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283867 chr16 65498383 66855609 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65498383 66997123 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH16,CDH5,CES2,CES3,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65499526 65510267 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65499526 65510321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65499526 65510321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 654996 657830 Gain and loss Pancreatic cancer SNP array 17952125 RAB40C chr16 65500485 65500569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283867 chr16 65500501 65506000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283867 chr16 65506001 65533500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283867 chr16 65509362 66894921 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65513082 65516940 Gain or loss Breast cancer - 20668451 LOC283867 chr16 65513082 65516940 Gain or loss Cancer - 20668451 LOC283867 chr16 65513082 65516940 Gain or loss Lung cancer - 20668451 LOC283867 chr16 65513082 65516940 Gain or loss Ovarian cancer - 20668451 LOC283867 chr16 65513082 65516940 Gain or loss Pancreas cancer - 20668451 LOC283867 chr16 65513082 65516940 Gain or loss Prostate cancer - 20668451 LOC283867 chr16 65513090 65516939 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65513092 65516931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65513092 65516931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65523467 65525768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65523467 65525768 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65523467 65525768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65525847 65536495 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LOC283867 chr16 65525848 65536473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65525848 65536473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65525848 65536493 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65533501 65610000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC283867 chr16 65552639 65566552 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65552639 65566553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65552639 65566553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr1 66557267 66646247 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 PDE4B chr16 65576114 65576214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC283867 chr16 65580133 65601160 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LOC283867 chr16 65580134 65601162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65580134 65601162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC283867 chr16 65587031 65601156 Gain and loss Pancreatic cancer SNP array 17952125 LOC283867 chr16 65589264 66855609 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,LOC283867,NAE1,TK2 chr16 65589264 66997123 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH16,CDH5,CES2,CES3,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65596195 67111898 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,LOC283867,NAE1,PDP2,RRAD,TK2 chr16 65596195 67237770 LOH Normal High-resolution SNP genotyping 21211785 B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM96B,FBXL8,HSF4,KIAA0895L,LOC100505865,LOC283867,MIR328,NAE1,NOL3,PDP2,RRAD,TK2,TRADD chr16 65598250 65632953 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC283867 chr16 65610923 65611219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65610923 65611220 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65620413 65620867 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr16 65620550 65692459 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 65620550 65692459 Gain or loss Cancer - 20668451 NOT_FOUND chr16 65620550 65692459 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 65620550 65692459 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 65620550 65692459 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 65620550 65692459 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 65620550 65692459 Translate Acute myeloid leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr16 65620551 65692457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65620551 65692457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65620551 65692457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65631822 65738257 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 65640000 65778000 Homozygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 NOT_FOUND chr16 65640000 65778000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 NOT_FOUND chr16 65645146 65645422 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr16 65700501 65701500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 65701416 65739941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65701416 65739941 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65701416 65739941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65729401 67424500 Copy number Normal ReadDepth: A Parallel R Package 21305028 B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM96B,FBXL8,FHOD1,HSF4,KCTD19,KIAA0895L,LOC100505865,LRRC29,LRRC36,MIR328,NAE1,NOL3,PDP2,PLEKHG4,RRAD,SLC9A5,TK2,TMEM208,TPPP3,TRADD chr16 65733001 65740000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 65739507 65742392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65740001 65802500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 65742106 66986611 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH16,CDH5,CES2,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,NAE1,PDP2,RRAD,TK2 chr16 65742106 67614668 LOH Normal High-resolution SNP genotyping 21211785 AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf70,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CTCF,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,HSD11B2,HSF4,KCTD19,KIAA0895L,LOC100505865,LRRC29,LRRC36,MIR328,NAE1,NOL3,PDP2,PLEKHG4,RRAD,SLC9A5,TK2,TMEM208,TPPP3,TRADD,ZDHHC1 chr16 65745589 65751313 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 65745589 65751313 Gain or loss Cancer - 20668451 NOT_FOUND chr16 65745589 65751313 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 65745589 65751313 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 65745589 65751313 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 65745589 65751313 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 65745594 65751313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65745594 65751313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65745605 65751306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65749268 65749362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 65751392 65755578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65751392 65755578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65751392 65755578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65754858 65761349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65754858 65761349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65756216 65761347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65761325 65761414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 65764380 65764499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 65765371 65767120 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65765371 65767125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65765371 65767125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65765632 65765732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 65767008 65772014 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65767008 65781608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65767008 65781608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65767010 65775384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65767010 65775384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65775784 65781540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65783569 65790322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65783569 65790322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65786987 65850577 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 65790515 65795433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65790515 65795433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65790515 65795433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65793725 65793799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65794069 65794169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 65798543 65818414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65798543 65818414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65798544 65818411 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65802501 65808500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 658087 664133 Gain and loss Pancreatic cancer SNP array 17952125 RAB40C chr16 65811167 65811482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 658134 664171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 658134 664171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 65818001 65869500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 65818515 65820682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65818517 65820683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65818517 65820683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65818667 66989889 LOH Normal High-resolution SNP genotyping 21211785 BEAN1,CA7,CCDC79,CDH16,CDH5,CES2,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,NAE1,PDP2,RRAD,TK2 chr16 65820795 65838926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65820795 65838926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65820800 65838896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65829988 67711252 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CTCF,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HSD11B2,HSF4,KCTD19,KIAA0895L,LOC100505865,LRRC29,LRRC36,MIR328,NAE1,NOL3,PARD6A,PDP2,PLEKHG4,RLTPR,RRAD,SLC9A5,TK2,TMEM208,TPPP3,TRADD,ZDHHC1 chr16 65840356 65863594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65840373 65863594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65850782 65851758 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 66585934 67512546 LOH Normal High-resolution SNP genotyping 21211785 INSL5,MIER1,MIR3117,PDE4B,SGIP1,SLC35D1,TCTEX1D1,WDR78 chr16 65862129 65863321 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 65868914 65880883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65868914 65880883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65869501 65886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 65870990 65880879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 6588011 6878909 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RBFOX1 chr16 65880894 65918162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65880894 65918162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65885339 65918165 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65886001 65895000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 65886963 66168953 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr16 6589144 6589178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 6590572 6597268 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RBFOX1 chr16 6590809 6590909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 65913062 65913391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65913062 65913391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65913066 65913391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65918246 65976604 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65918248 65976604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65918248 65976604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65944631 65978180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 65974403 65974503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 65978001 65982500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 65981215 65984886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65981215 65984922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65981215 65984922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65982086 65982239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65982086 65982244 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65982501 65992000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 65985829 66007878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65985829 66007878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 65985829 66007878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 65992001 66019500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 66019501 66052500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 66022537 66028953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66022537 66028953 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66022537 66028953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66024956 66025528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66029418 66072590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66029418 66072590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66029426 66072589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 6604055 6616448 Loss Normal Birdsuite, version 1.5.2 22087296 RBFOX1 chr16 66045983 66072561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66051096 66051165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 66052501 66119000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 66071307 66071624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 66073978 66075217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66073978 66075217 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66073978 66075217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66083352 68459817 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH16,CDH5,CENPT,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LOC100505865,LRRC29,LRRC36,MIR328,NAE1,NFATC3,NOL3,NRN1L,NUTF2,PARD6A,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,THAP11,TK2,TMEM208,TPPP3,TRADD,TSNAXIP1,ZDHHC1 chr1 66609036 66609126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 66106671 66106765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 6611655 6611755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 66119001 66140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 66120221 66138189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66120255 66138189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66120255 66138189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66144782 66901470 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 BEAN1,CA7,CCDC79,CDH5,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,LOC100505865,NAE1,TK2 chr16 66153811 66230587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66153811 66230587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66153964 66230580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66166813 66166890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 66168953 67071321 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BEAN1,CA7,CBFB,CCDC79,CDH16,CDH5,CES2,CES3,CES4A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,LOC100505865,NAE1,PDP2,RRAD,TK2 chr16 66195712 66195812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 66205339 66205426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 66236001 66260000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 66236531 66248957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66236531 66248957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66239273 66248971 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66248929 66251882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66248929 66251882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66248934 66252214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66252351 66254182 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 66252352 66254181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66252352 66254181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66252363 66254169 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66254351 66258129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66254353 66258129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66254353 66258129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66258217 66260162 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 66258220 66260004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66258220 66260161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66258220 66260161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66260001 66515500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BEAN1,CDH5,LOC100505865 chr16 66265938 66310720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66265938 66310720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66265946 66310720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 6628068 6646077 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBFOX1 chr16 66296406 66317090 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 66300774 66306111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 66302487 66305087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 66314506 66398056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66314506 66398056 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66314506 66398056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 6632597 6646077 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBFOX1 chr1 66635262 66635362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 66362847 66385004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66377803 66377867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 66638196 66638346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 66392363 66392396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 66398282 66419466 Gain and loss Pancreatic cancer SNP array 17952125 CDH5 chr16 66398510 66419472 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CDH5 chr16 66398511 66419471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH5 chr16 66398511 66419471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH5 chr16 66419560 66438862 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CDH5 chr16 66419563 66426706 Gain and loss Pancreatic cancer SNP array 17952125 CDH5 chr16 66419565 66425300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH5 chr16 66419565 66425300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH5 chr16 66433714 66435598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH5 chr16 66433714 66435598 Gain and loss Pancreatic cancer SNP array 17952125 CDH5 chr16 66433714 66435598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH5 chr16 66438319 66462720 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 BEAN1,CDH5,LOC100505865 chr16 66438320 66462716 Gain and loss Pancreatic cancer SNP array 17952125 BEAN1,CDH5,LOC100505865 chr16 66438331 66462727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEAN1,CDH5,LOC100505865 chr16 66438331 66462727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEAN1,CDH5,LOC100505865 chr16 66459729 66503617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BEAN1 chr16 66464456 66475899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66464456 66475899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66464499 66475907 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 BEAN1 chr16 66464500 66475906 Gain and loss Pancreatic cancer SNP array 17952125 BEAN1 chr16 66466526 66507994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BEAN1 chr16 66469061 66469144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66476282 66477772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66476282 66477772 Gain and loss Pancreatic cancer SNP array 17952125 BEAN1 chr16 66476282 66477772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66481857 66508760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BEAN1 chr16 66484705 66521078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66484705 66521078 Gain and loss Pancreatic cancer SNP array 17952125 BEAN1 chr16 66484705 66521078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66492225 66495131 Loss Normal Birdsuite, version 1.5.2 22087296 BEAN1 chr16 66509319 70983045 Deletion small cell lung cancer array-CGH 20016488 AARS,ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CLEC18A,CLEC18C,CMTM1,CMTM2,CMTM3,CMTM4,COG4,COG8,CTCF,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FUK,GFOD2,HAS3,HSD11B2,HSF4,HYDIN,IL34,KCTD19,KIAA0895L,LCAT,LOC100130894,LOC100506060,LOC100506083,LRRC29,LRRC36,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORD111,SNORD111B,SNTB2,ST3GAL2,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VAC14,VPS4A,WWP2,ZDHHC1,ZFP90 chr16 66512595 69401523 Substitutions and indels small cell lung cancer array-CGH 20016488 ACD,AGRP,ATP6V0D1,B3GNT9,BEAN1,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,COG8,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FAM96B,FBXL8,FHOD1,GFOD2,HAS3,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LRRC29,LRRC36,MIR328,NAE1,NFATC3,NIP7,NOL3,NRN1L,NUTF2,PARD6A,PDF,PDP2,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNTB2,TERF2,THAP11,TK2,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VPS4A,ZDHHC1,ZFP90 chr16 66515501 66543500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BEAN1,TK2 chr16 66520975 66523266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66520975 66523266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66520975 66528254 Gain and loss Pancreatic cancer SNP array 17952125 BEAN1 chr16 66525913 66528254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66525913 66528254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEAN1 chr16 66531288 66535516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66531288 66535516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66531288 66535516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66535731 66560026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TK2 chr16 66535731 66560026 Gain and loss Pancreatic cancer SNP array 17952125 TK2 chr16 66535731 66560026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TK2 chr16 66543501 66590000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CKLF,CKLF-CMTM1,TK2 chr16 66554224 66554324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TK2 chr16 66567068 66571953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TK2 chr16 66567068 66571953 Gain and loss Pancreatic cancer SNP array 17952125 TK2 chr16 66567068 66571953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TK2 chr16 665706 668268 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 RAB40C chr16 665707 668268 Gain and loss Pancreatic cancer SNP array 17952125 RAB40C chr16 66578798 66590857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CKLF,CKLF-CMTM1,TK2 chr16 66578798 66590857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CKLF,CKLF-CMTM1,TK2 chr16 66578801 66584668 Gain and loss Pancreatic cancer SNP array 17952125 TK2 chr16 665792 668268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 665792 668268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr1 66658328 66691989 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 PDE4B chr16 66590001 66675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4 chr16 66609074 67149166 LOH Normal High-resolution SNP genotyping 21211785 C16orf70,CA7,CBFB,CCDC79,CDH16,CES2,CES3,CES4A,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,FAM96B,NAE1,PDP2,RRAD chr16 66609114 66609220 Gain and loss Pancreatic cancer SNP array 17952125 CKLF-CMTM1,CMTM1 chr16 66609114 66609221 Gain and loss Pancreatic cancer SNP array 17952125 CKLF-CMTM1,CMTM1 chr16 66609114 66609221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CKLF-CMTM1,CMTM1 chr1 66661182 66661282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 66612678 66614846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CKLF-CMTM1,CMTM1,CMTM2 chr16 66612678 66614846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CKLF-CMTM1,CMTM1,CMTM2 chr16 66612984 66614606 Gain and loss Pancreatic cancer SNP array 17952125 CKLF-CMTM1,CMTM1,CMTM2 chr16 66614700 66670706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMTM2,CMTM3,CMTM4 chr16 66614700 66670706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM2,CMTM3,CMTM4 chr16 66614701 66670727 Gain and loss Pancreatic cancer SNP array 17952125 CMTM2,CMTM3,CMTM4 chr16 66645740 66662305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CMTM3,CMTM4 chr16 66647183 66647288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM3 chr16 66657156 66657251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMTM4 chr16 66675501 66677500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CMTM4 chr16 66676876 66818301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC79,CMTM4,DYNC1LI2 chr16 66676876 66818301 Gain and loss Pancreatic cancer SNP array 17952125 CCDC79,CMTM4,DYNC1LI2 chr16 66676876 66818301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC79,CMTM4,DYNC1LI2 chr16 66680853 66680947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM4 chr16 66680854 66680947 Gain and loss Pancreatic cancer SNP array 17952125 CMTM4 chr16 66680856 66680947 Gain and loss Pancreatic cancer SNP array 17952125 CMTM4 chr16 66700000 70800000 Deletion T-cell acute lymphoblastic leukemia Array CGH 18185524 AARS,ACD,AGRP,ATP6V0D1,B3GNT9,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CLEC18A,CLEC18C,CMTM4,COG4,COG8,CTCF,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FUK,GFOD2,HAS3,HSD11B2,HSF4,IL34,KCTD19,KIAA0895L,LCAT,LOC100130894,LOC100506060,LOC100506083,LRRC29,LRRC36,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORD111,SNORD111B,SNTB2,ST3GAL2,TERF2,THAP11,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VAC14,VPS4A,WWP2,ZDHHC1,ZFP90 chr16 66700000 70800000 Gain Basal cell lymphoma Array CGH 19029149 AARS,ACD,AGRP,ATP6V0D1,B3GNT9,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CLEC18A,CLEC18C,CMTM4,COG4,COG8,CTCF,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FUK,GFOD2,HAS3,HSD11B2,HSF4,IL34,KCTD19,KIAA0895L,LCAT,LOC100130894,LOC100506060,LOC100506083,LRRC29,LRRC36,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORD111,SNORD111B,SNTB2,ST3GAL2,TERF2,THAP11,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VAC14,VPS4A,WWP2,ZDHHC1,ZFP90 chr16 66700000 70800000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 AARS,ACD,AGRP,ATP6V0D1,B3GNT9,C16orf48,C16orf70,C16orf86,CA7,CBFB,CCDC79,CDH1,CDH16,CDH3,CENPT,CES2,CES3,CES4A,CHTF8,CIRH1A,CLEC18A,CLEC18C,CMTM4,COG4,COG8,CTCF,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FUK,GFOD2,HAS3,HSD11B2,HSF4,IL34,KCTD19,KIAA0895L,LCAT,LOC100130894,LOC100506060,LOC100506083,LRRC29,LRRC36,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORD111,SNORD111B,SNTB2,ST3GAL2,TERF2,THAP11,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,VAC14,VPS4A,WWP2,ZDHHC1,ZFP90 chr16 66700000 74100000 Deletion Hepatocellular carcinoma Array CGH 16750200 AARS,ACD,AGRP,AP1G1,ATP6V0D1,ATXN1L,B3GNT9,C16orf48,C16orf70,C16orf86,CA7,CALB2,CBFB,CCDC79,CDH1,CDH16,CDH3,CENPT,CES2,CES3,CES4A,CHST4,CHTF8,CIRH1A,CLEC18A,CLEC18C,CMTM4,COG4,COG8,CTCF,CTRL,CYB5B,DDX19A,DDX19B,DDX28,DHODH,DHX38,DPEP2,DPEP3,DUS2L,DYNC1LI2,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,EXOSC6,FAM65A,FAM96B,FBXL8,FHOD1,FTSJD1,FUK,GFOD2,HAS3,HP,HPR,HSD11B2,HSF4,HTA,HYDIN,IL34,IST1,KCTD19,KIAA0895L,LCAT,LOC100130894,LOC100506060,LOC100506083,LOC100506172,LRRC29,LRRC36,MARVELD3,MIR140,MIR1538,MIR1972-1,MIR1972-2,MIR328,MTSS1L,NAE1,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUTF2,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PKD1L3,PLA2G15,PLEKHG4,PMFBP1,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,RRAD,SF3B3,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,TAT,TERF2,THAP11,TMCO7,TMED6,TMEM208,TPPP3,TRADD,TSNAXIP1,TXNL4B,VAC14,VPS4A,WWP2,ZDHHC1,ZFHX3,ZFP90,ZNF19,ZNF23,ZNF821 chr16 66700000 90354753 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AARS,ACD,ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,AGRP,ANKRD11,AP1G1,APRT,ATMIN,ATP2C2,ATP6V0D1,ATXN1L,B3GNT9,BANP,BCAR1,BCMO1,C16orf3,C16orf46,C16orf48,C16orf55,C16orf7,C16orf70,C16orf74,C16orf86,C16orf95,CA5A,CA7,CALB2,CBFA2T3,CBFB,CCDC79,CDH1,CDH13,CDH15,CDH16,CDH3,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CENPT,CES2,CES3,CES4A,CFDP1,CHMP1A,CHST4,CHST5,CHST6,CHTF8,CIRH1A,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CMTM4,CNTNAP4,COG4,COG8,COTL1,COX4I1,CPNE7,CRISPLD2,CTCF,CTRB1,CTRB2,CTRL,CTU2,CYB5B,CYBA,DBNDD1,DDX19A,DDX19B,DDX28,DEF8,DHODH,DHX38,DNAAF1,DPEP1,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EDC4,ELMO3,EMC8,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM65A,FAM92B,FAM96B,FANCA,FBXL8,FBXO31,FHOD1,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GALNS,GAN,GAS8,GCSH,GFOD2,GINS2,GLG1,HAS3,HP,HPR,HSBP1,HSD11B2,HSD17B2,HSDL1,HSF4,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KCTD19,KIAA0182,KIAA0513,KIAA0895L,KIAA1609,KLHDC4,KLHL36,LCAT,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100130894,LOC100287036,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283922,LOC400548,LOC400558,LOC732275,LRRC29,LRRC36,MAF,MAP1LC3B,MARVELD3,MBTPS1,MC1R,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR328,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NAE1,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NOL3,NQO1,NRN1L,NUDT7,NUTF2,OSGIN1,PABPN1L,PARD6A,PDF,PDP2,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PLEKHG4,PMFBP1,PRDM7,PRMT7,PSKH1,PSMB10,PSMD7,RANBP10,RFWD3,RLTPR,RNF166,RPL13,RRAD,SDR42E1,SF3B3,SLC12A4,SLC22A31,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNAI3,SNORA70D,SNORD111,SNORD111B,SNORD68,SNORD71,SNTB2,SPATA2L,SPG7,SPIRE2,ST3GAL2,SYCE1L,TAF1C,TAT,TCF25,TERF2,TERF2IP,THAP11,TMCO7,TMED6,TMEM170A,TMEM208,TMEM231,TPPP3,TRADD,TRAPPC2L,TSNAXIP1,TUBB3,TXNL4B,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF276,ZNF469,ZNF778,ZNF821,ZNRF1 chr16 66706323 66706366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMTM4 chr16 66715567 66715613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMTM4 chr16 66771759 66805166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC79,DYNC1LI2 chr16 66780691 66780825 Gain and loss Pancreatic cancer SNP array 17952125 DYNC1LI2 chr16 66780691 66780825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYNC1LI2 chr16 6679703 7970814 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RBFOX1 chr16 66819950 66827637 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CCDC79 chr16 66819951 66827637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC79 chr16 66819951 66827637 Gain and loss Pancreatic cancer SNP array 17952125 CCDC79 chr16 66819951 66827637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC79 chr16 66821001 66856500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC79,NAE1 chr16 66836748 66852459 Gain and loss Pancreatic cancer SNP array 17952125 NAE1 chr16 66836748 66852460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAE1 chr16 66836748 66852460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAE1 chr16 66839286 66911193 Amplification or deletion Cancer Array CGH 17440070 CA7,NAE1 chr1 66685425 66685525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 66855924 66893223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CA7,NAE1 chr16 66855924 66893223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA7,NAE1 chr16 66855964 66890417 Gain and loss Pancreatic cancer SNP array 17952125 CA7,NAE1 chr16 66875658 66875722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66875658 66875722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66889570 66902330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66892021 66902349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66892021 66902349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66902536 66948663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH16,PDP2 chr16 66902536 66948663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH16,PDP2 chr1 66690376 67370976 LOH Normal High-resolution SNP genotyping 21211785 INSL5,MIR3117,PDE4B,SGIP1,TCTEX1D1,WDR78 chr16 66904643 66904744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 66904643 66904744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 66906750 66906837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 66906803 66948663 Gain and loss Pancreatic cancer SNP array 17952125 CDH16,PDP2 chr1 66691991 71187083 Deletion Esophageal cancer affymetrix genechip human mapping 264K Nsp arrays 21851588 ANKRD13C,C1orf141,CTH,DEPDC1,DIRAS3,GADD45A,GNG12,GNG12-AS1,HHLA3,IL12RB2,IL23R,INSL5,LRRC40,LRRC7,MIER1,MIR1262,MIR3117,PDE4B,PIN1P1,RPE65,SERBP1,SGIP1,SLC35D1,SRSF11,TCTEX1D1,WDR78,WLS chr16 66920791 66920933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDP2 chr16 66920797 66920933 Gain and loss Pancreatic cancer SNP array 17952125 PDP2 chr16 66920867 66920933 Gain and loss Pancreatic cancer SNP array 17952125 PDP2 chr16 6693885 6695555 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX1 chr16 66940887 66944016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH16 chr16 66942648 66967713 Duplication Oligozoospermia Array-CGH 20877625 CDH16,FAM96B,RRAD chr16 66946501 66972000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH16,CES2,FAM96B,RRAD chr16 66949733 67039905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH16,CES2,CES3,CES4A,FAM96B,RRAD chr16 66949733 67039905 Gain and loss Pancreatic cancer SNP array 17952125 CDH16,CES2,CES3,CES4A,FAM96B,RRAD chr16 66949733 67039905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH16,CES2,CES3,CES4A,FAM96B,RRAD chr16 66952249 66952341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH16 chr16 66956175 66988155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CES2,FAM96B,RRAD chr16 66972001 67084000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBFB,CES2,CES3,CES4A chr1 66700000 76700000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ACADM,ANKRD13C,ASB17,C1orf141,C1orf173,CRYZ,CTH,DEPDC1,DIRAS3,FPGT,FPGT-TNNI3K,GADD45A,GNG12,GNG12-AS1,HHLA3,IL12RB2,IL23R,INSL5,LHX8,LRRC40,LRRC7,LRRIQ3,MIER1,MIR1262,MIR186,MIR3117,MSH4,NEGR1,NEGR1-IT1,PDE4B,PIN1P1,PTGER3,RABGGTB,RPE65,SERBP1,SGIP1,SLC35D1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,TCTEX1D1,TNNI3K,TYW3,WDR78,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr16 67008183 67041762 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CES3,CES4A chr16 670116 672768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 67018 75839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 67018 75839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 670225 672746 Gain and loss Pancreatic cancer SNP array 17952125 RAB40C chr16 67065957 67066068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBFB chr16 67065959 67066068 Gain and loss Pancreatic cancer SNP array 17952125 CBFB chr16 67065960 67066068 Gain and loss Pancreatic cancer SNP array 17952125 CBFB chr16 67070292 67070391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBFB chr16 67071321 67832694 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACD,AGRP,ATP6V0D1,B3GNT9,C16orf48,C16orf70,C16orf86,CBFB,CTCF,E2F4,ELMO3,EXOC3L1,FAM65A,FBXL8,FHOD1,GFOD2,HSD11B2,HSF4,KCTD19,KIAA0895L,LRRC29,LRRC36,MIR328,NOL3,PARD6A,PLEKHG4,RANBP10,RLTPR,SLC9A5,TMEM208,TPPP3,TRADD,ZDHHC1 chr16 67084001 67085500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBFB chr16 67085501 67122000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBFB chr16 67093532 67124636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CBFB chr16 67103973 69257715 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ACD,AGRP,ATP6V0D1,B3GNT9,C16orf48,C16orf70,C16orf86,CBFB,CDH1,CDH3,CENPT,CHTF8,CIRH1A,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,E2F4,EDC4,ELMO3,ESRP2,EXOC3L1,FAM65A,FBXL8,FHOD1,GFOD2,HAS3,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LRRC29,LRRC36,MIR328,NFATC3,NOL3,NRN1L,NUTF2,PARD6A,PLA2G15,PLEKHG4,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,SLC12A4,SLC7A6,SLC7A6OS,SLC9A5,SMPD3,SNTB2,THAP11,TMCO7,TMEM208,TPPP3,TRADD,TSNAXIP1,ZDHHC1,ZFP90 chr1 66711296 66922788 Gain and loss Pancreatic cancer SNP array 17952125 PDE4B chr16 67126919 67127062 Gain and loss Pancreatic cancer SNP array 17952125 CBFB chr16 67126919 67127062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBFB chr16 67126919 67127065 Gain and loss Pancreatic cancer SNP array 17952125 CBFB chr16 67130715 67158539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf70,CBFB chr16 67130715 67158539 Gain and loss Pancreatic cancer SNP array 17952125 C16orf70,CBFB chr16 67130715 67158539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf70,CBFB chr16 67136433 67238320 Loss Lung cancer Array CGH 21203850 B3GNT9,C16orf70,E2F4,ELMO3,EXOC3L1,FBXL8,HSF4,KIAA0895L,MIR328,NOL3,TRADD chr16 671380 671448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB40C chr16 671667 674440 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 RAB40C chr16 671675 674530 Gain and loss Pancreatic cancer SNP array 17952125 RAB40C chr16 671677 674530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 671677 674530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 67174843 67180909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C16orf70 chr16 67188264 67188336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRADD chr16 67193480 67411172 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 E2F4,ELMO3,EXOC3L1,FBXL8,FHOD1,HSF4,KCTD19,KIAA0895L,LRRC29,LRRC36,MIR328,NOL3,PLEKHG4,SLC9A5,TMEM208,TRADD chr16 67199555 67199648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSF4 chr1 66722887 66722987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 67235651 67290458 Gain or loss Breast cancer - 20668451 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr16 67235651 67290458 Gain or loss Cancer - 20668451 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr16 67235651 67290458 Gain or loss Lung cancer - 20668451 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr16 67235651 67290458 Gain or loss Ovarian cancer - 20668451 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr16 67235651 67290458 Gain or loss Pancreas cancer - 20668451 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr16 67235651 67290458 Gain or loss Prostate cancer - 20668451 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr16 67236240 67290440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr16 67236240 67290440 Gain and loss Pancreatic cancer SNP array 17952125 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr16 67236240 67290440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMO3,FHOD1,LRRC29,MIR328,SLC9A5,TMEM208 chr1 6672474 6692718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PHF13,THAP3 chr1 66729316 66745224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE4B chr16 673127 67920025 Copy number Autism exome sequencing 22495311 ABAT,ABCA17P,ABCA3,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADCY7,ADCY9,AGRP,AHSP,AKTIP,ALDOA,ALG1,AMDHD2,AMFR,ANKRD26P1,ANKS3,ANKS4B,APOBR,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATP6V0C,ATP6V0D1,ATXN2L,B3GNT9,BAIAP3,BBS2,BCAR4,BCKDK,BCL7C,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf13,C16orf45,C16orf48,C16orf5,C16orf52,C16orf53,C16orf54,C16orf58,C16orf59,C16orf62,C16orf70,C16orf71,C16orf72,C16orf78,C16orf79,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf89,C16orf90,C16orf91,C16orf92,C16orf93,C16orf96,C1QTNF8,CA7,CACNA1H,CACNG3,CAPNS2,CARHSP1,CASKIN1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC154,CCDC64B,CCDC78,CCDC79,CCL17,CCL22,CCNF,CCP110,CD19,CD2BP2,CDH11,CDH16,CDH5,CDH8,CDIPT,CDR2,CEMP1,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CHD9,CHP2,CHTF18,CIAPIN1,CIITA,CKLF,CKLF-CMTM1,CLCN7,CLDN6,CLDN9,CLEC16A,CLEC19A,CLN3,CLUAP1,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,COG7,COQ7,COQ9,CORO1A,CORO7,CORO7-PAM16,COX6A2,CPNE2,CPPED1,CRAMP1L,CREBBP,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CX3CL1,CYLD,DCTN5,DCTPP1,DCUN1D3,DEXI,DKFZP434H168,DNAH3,DNAJA2,DNAJA3,DNASE1,DNASE1L2,DOC2A,DOK4,DYNC1LI2,E2F4,E4F1,EARS2,ECI1,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EME2,EMP2,ERCC4,ERI2,ERN2,ERVK13-1,EXOC3L1,FAHD1,FAM100A,FAM173A,FAM18A,FAM192A,FAM195A,FAM57B,FAM65A,FAM86A,FAM96B,FBRS,FBXL16,FBXL19,FBXL19-AS1,FBXL8,FHOD1,FLJ21408,FLJ26245,FLJ39639,FLJ42627,FLYWCH1,FLYWCH2,FOPNL,FTO,FUS,GDE1,GDPD3,GFER,GFOD2,GGA2,GINS3,GLIS2,GLYR1,GNAO1,GNG13,GNPTG,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAGH,HAGHL,HCFC1R1,HEATR3,HERC2P4,HERPUD1,HIRIP3,HMOX2,HN1L,HS3ST2,HS3ST4,HS3ST6,HSD11B2,HSD3B7,HSF4,IFT140,IGFALS,IGSF6,IL21R,IL21R-AS1,IL27,IL32,IL4R,INO80E,IQCK,IRX3,IRX5,IRX6,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JMJD8,KAT8,KATNB1,KCTD13,KCTD19,KCTD5,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIAA0895L,KIF22,KIFC3,KREMEN2,LAT,LCMT1,LINC00254,LINC00273,LINC00514,LITAF,LMF1,LOC100128770,LOC100130700,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506655,LOC100507501,LOC100507577,LOC100862671,LOC146481,LOC283856,LOC283867,LOC283914,LOC388242,LOC388276,LOC390705,LOC440335,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC652276,LOC653786,LOC729264,LOC730183,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAPK3,MAPK8IP3,MAZ,MEFV,MEIOB,METRN,METTL22,METTL9,MGC3771,MGRN1,MIR1225,MIR138-2,MIR193B,MIR3177,MIR3178,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3180-5,MIR328,MIR365A,MIR3677,MIR3935,MIR4516,MIR4517,MIR4518,MIR4519,MIR4717,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR662,MIR762,MIR940,MKL2,MLST8,MMP15,MMP2,MMP25,MPV17L,MRPS34,MSLN,MSRB1,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTRNR2L4,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAA60,NAE1,NAGPA,NAGPA-AS1,NARFL,NDE1,NDRG4,NDUFAB1,NDUFB10,NETO2,NFATC2IP,NKD1,NLRC3,NLRC5,NME3,NMRAL1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NOXO1,NPIP,NPIPL3,NPW,NRN1L,NSMCE1,NTAN1,NTHL1,NTN3,NUBP1,NUBP2,NUDT16L1,NUDT21,NUP93,NUPR1,NUTF2,OGFOD1,OR1F1,OR1F2P,OR2C1,ORAI3,ORC6,OTOA,PALB2,PAM16,PAPD5,PAQR4,PARD6A,PARN,PDILT,PDP2,PDPK1,PDXDC1,PDZD9,PGP,PHKB,PHKG2,PKD1,PKD1P1,PKMYT1,PLA2G10,PLEKHG4,PLK1,PLLP,PMM2,POLR2C,POLR3E,PPL,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRR25,PRRT2,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS36,PRSS41,PRSS53,PRSS54,PRSS8,PTX4,PYCARD,PYDC1,QPRT,RAB26,RAB40C,RABEP2,RANBP10,RBBP6,RBFOX1,RBL2,RHBDL1,RHOT2,RLTPR,RMI2,RNA5SP411,RNF151,RNF40,RNPS1,RNU6-76,ROGDI,RPGRIP1L,RPL3L,RPS15A,RPS2,RPUSD1,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SEC14L5,SEPHS2,SEPT1,SEPT12,SETD1A,SETD6,SEZ6L2,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC38A7,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5P1,SLC7A5P2,SLC9A3R2,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SLX4,SMG1,SMG1P1,SNHG9,SNN,SNORA10,SNORA30,SNORA46,SNORA50,SNORA64,SNORA78,SNORD60,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SOX8,SPN,SPNS1,SPSB3,SRCAP,SRL,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYNGR3,SYT17,TAOK2,TBC1D10B,TBC1D24,TBL3,TBX6,TCEB2,TEKT5,TELO2,TEPP,TFAP4,TGFB1I1,THAP11,THOC6,THUMPD1,TIGD7,TK2,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM204,TMEM208,TMEM219,TNFRSF12A,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TPSAB1,TPSB2,TPSD1,TPSG1,TRADD,TRAF7,TRAP1,TRIM72,TSC2,TSNAXIP1,TSR3,TUFM,TXNDC11,UBE2I,UBE2MP1,UBFD1,UBN1,UMOD,UNKL,UQCRC2,USB1,USP31,USP7,VASN,VKORC1,VPS35,VWA3A,WDR24,WDR90,WFIKKN1,XPO6,XYLT1,YPEL3,ZC3H7A,ZDHHC1,ZG16,ZG16B,ZKSCAN2,ZNF174,ZNF200,ZNF205,ZNF213,ZNF263,ZNF267,ZNF319,ZNF423,ZNF434,ZNF48,ZNF500,ZNF597,ZNF598,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF75A,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2,ZSCAN10 chr16 67316722 67368868 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCTD19,LRRC36,PLEKHG4 chr16 67323285 67323369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHG4 chr16 67328696 67426943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCTD19,LRRC36,TPPP3 chr16 67328696 67426943 Gain and loss Pancreatic cancer SNP array 17952125 KCTD19,LRRC36,TPPP3 chr16 67328696 67426943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCTD19,LRRC36,TPPP3 chr16 67333881 67334002 Gain and loss Pancreatic cancer SNP array 17952125 KCTD19 chr16 67333882 67333997 Gain and loss Pancreatic cancer SNP array 17952125 KCTD19 chr16 67333885 67333993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCTD19 chr16 6738909 6738971 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX1 chr1 66741048 67740857 LOH Normal High-resolution SNP genotyping 21211785 C1orf141,IL23R,INSL5,MIER1,MIR3117,PDE4B,SGIP1,SLC35D1,TCTEX1D1,WDR78 chr16 67412357 68067925 LOH Normal High-resolution SNP genotyping 21211785 ACD,AGRP,ATP6V0D1,C16orf48,C16orf86,CENPT,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,EDC4,FAM65A,GFOD2,HSD11B2,LCAT,LRRC36,NRN1L,NUTF2,PARD6A,PSKH1,PSMB10,RANBP10,RLTPR,SLC12A4,THAP11,TPPP3,TSNAXIP1,ZDHHC1 chr16 67424501 68411200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACD,AGRP,ATP6V0D1,C16orf48,C16orf86,CENPT,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,EDC4,ESRP2,FAM65A,GFOD2,HSD11B2,LCAT,NFATC3,NRN1L,NUTF2,PARD6A,PLA2G15,PRMT7,PSKH1,PSMB10,RANBP10,RLTPR,SLC12A4,SLC7A6,SLC7A6OS,SMPD3,THAP11,TPPP3,TSNAXIP1,ZDHHC1 chr16 67434245 67434320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZDHHC1 chr16 67435010 67676584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGRP,ATP6V0D1,CTCF,FAM65A,HSD11B2,ZDHHC1 chr16 67435010 67676584 Gain and loss Pancreatic cancer SNP array 17952125 AGRP,ATP6V0D1,CTCF,FAM65A,HSD11B2,ZDHHC1 chr16 67435010 67676584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGRP,ATP6V0D1,CTCF,FAM65A,HSD11B2,ZDHHC1 chr16 67439951 67440016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZDHHC1 chr16 674623 680445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 674623 680445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB40C chr16 674702 680401 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 RAB40C chr16 674703 680445 Gain and loss Pancreatic cancer SNP array 17952125 RAB40C chr16 67470409 67470493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSD11B2 chr16 67476980 67477081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP6V0D1 chr16 67476982 67477077 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V0D1 chr16 67476982 67477080 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V0D1 chr16 67489608 67489697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP6V0D1 chr16 67519716 67519987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 6753260 6841514 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 RBFOX1 chr16 67581283 67581315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 66758683 66758739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4B chr16 67598456 67598555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTCF chr16 67598459 67598555 Gain and loss Pancreatic cancer SNP array 17952125 CTCF chr16 67598459 67598559 Gain and loss Pancreatic cancer SNP array 17952125 CTCF chr1 66759929 66804717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE4B chr16 6764480 6764570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 67689469 67689550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RLTPR chr16 67697661 67710102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf48,C16orf86,GFOD2 chr16 67697661 67710102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf48,C16orf86,GFOD2 chr16 67697661 67710113 Gain and loss Pancreatic cancer SNP array 17952125 C16orf48,C16orf86,GFOD2 chr16 67709414 67723982 Gain and loss Pancreatic cancer SNP array 17952125 GFOD2 chr16 67709414 67723985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GFOD2 chr16 67709414 67723985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFOD2 chr16 67712358 67746766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GFOD2 chr1 66771654 66986570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE4B chr1 66771654 66986570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4B chr16 67724034 67760424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GFOD2,RANBP10 chr16 67724034 67760424 Gain and loss Pancreatic cancer SNP array 17952125 GFOD2,RANBP10 chr16 67724034 67760424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFOD2,RANBP10 chr16 67753864 67786922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RANBP10 chr16 67767075 67767181 Gain and loss Pancreatic cancer SNP array 17952125 RANBP10 chr16 67767075 67767181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RANBP10 chr16 67773160 67783407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RANBP10 chr16 67775429 67793887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RANBP10 chr16 67778533 67892385 Gain and loss Pancreatic cancer SNP array 17952125 CENPT,NUTF2,RANBP10,THAP11,TSNAXIP1 chr16 67778533 67900456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CENPT,NUTF2,RANBP10,THAP11,TSNAXIP1 chr16 67778533 67900456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CENPT,NUTF2,RANBP10,THAP11,TSNAXIP1 chr16 67780930 67796337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RANBP10 chr16 67782527 67782625 Gain and loss Pancreatic cancer SNP array 17952125 RANBP10 chr16 67782527 67782627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RANBP10 chr16 67782528 67782625 Gain and loss Pancreatic cancer SNP array 17952125 RANBP10 chr16 67792875 67792963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RANBP10 chr16 67793682 67793816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RANBP10 chr16 67804325 67883165 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CENPT,NUTF2,RANBP10,THAP11,TSNAXIP1 chr16 67832694 68227480 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CENPT,CTRL,DDX28,DPEP2,DPEP3,DUS2L,EDC4,LCAT,NFATC3,NRN1L,NUTF2,PSKH1,PSMB10,RANBP10,SLC12A4,THAP11,TSNAXIP1 chr1 66784931 66800466 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE4B chr16 67853420 67853503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSNAXIP1 chr16 67880818 67905218 Deletion Prostate cancer aCGH 22341455 CENPT,NUTF2 chr16 67883264 67892443 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NUTF2 chr16 67895081 67916446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EDC4,NUTF2 chr16 67895081 67916446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EDC4,NUTF2 chr16 6790192 6790260 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX1 chr16 67902780 67916446 Gain and loss Pancreatic cancer SNP array 17952125 EDC4,NUTF2 chr16 67920025 67921999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRN1L chr16 67920025 67931014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRN1L,PSKH1 chr16 67920025 67931014 Gain and loss Pancreatic cancer SNP array 17952125 NRN1L,PSKH1 chr16 67920025 67931014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRN1L,PSKH1 chr16 67931047 67934510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSKH1 chr16 67931047 67934510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSKH1 chr16 67931189 67934508 Gain and loss Pancreatic cancer SNP array 17952125 PSKH1 chr16 67934661 67943190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSKH1 chr16 67934661 67943190 Gain and loss Pancreatic cancer SNP array 17952125 PSKH1 chr16 67934661 67943190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSKH1 chr16 67947036 67977374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTRL,LCAT,PSKH1,PSMB10 chr16 67947036 67977374 Gain and loss Pancreatic cancer SNP array 17952125 CTRL,LCAT,PSKH1,PSMB10 chr16 67947036 67977374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTRL,LCAT,PSKH1,PSMB10 chr16 67950084 67950142 Gain and loss Pancreatic cancer SNP array 17952125 PSKH1 chr16 67950084 67950142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSKH1 chr16 67950143 67950213 Gain and loss Pancreatic cancer SNP array 17952125 PSKH1 chr16 67950143 67950213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSKH1 chr16 67951790 68772637 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 CDH1,CDH3,CTRL,DDX28,DPEP2,DPEP3,DUS2L,ESRP2,LCAT,NFATC3,PLA2G15,PRMT7,PSKH1,PSMB10,SLC12A4,SLC7A6,SLC7A6OS,SMPD3,ZFP90 chr16 6795534 6795721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX1 chr16 67958295 67958385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PSKH1 chr16 68015999 68057668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX28,DPEP2,DUS2L chr16 68015999 68057668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX28,DPEP2,DUS2L chr16 68016041 68055209 Gain and loss Pancreatic cancer SNP array 17952125 DDX28,DPEP2 chr16 68085544 70837486 LOH Normal High-resolution SNP genotyping 21211785 AARS,CDH1,CDH3,CHTF8,CIRH1A,CLEC18A,CLEC18C,COG4,COG8,CYB5B,DDX19A,DDX19B,DUS2L,ESRP2,EXOSC6,FUK,HAS3,IL34,LOC100130894,LOC100506060,LOC100506083,MIR140,MIR1538,MIR1972-1,MIR1972-2,MTSS1L,NFAT5,NFATC3,NIP7,NOB1,NQO1,PDF,PDPR,PDXDC2P,PLA2G15,PRMT7,SF3B3,SLC7A6,SLC7A6OS,SMPD3,SNORD111,SNORD111B,SNTB2,ST3GAL2,TERF2,TMCO7,TMED6,VAC14,VPS4A,WWP2,ZFP90 chr16 68123622 68168463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NFATC3 chr16 68156498 68296054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESRP2,NFATC3,PLA2G15 chr16 68156498 68296054 Gain and loss Pancreatic cancer SNP array 17952125 ESRP2,NFATC3,PLA2G15 chr16 68156498 68296054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESRP2,NFATC3,PLA2G15 chr16 68157212 68157272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFATC3 chr16 68164911 88827254 Loss Medulloblastoma array-CGH 16783165 AARS,ADAD2,ADAMTS18,ADAT1,AP1G1,ATMIN,ATP2C2,ATXN1L,BANP,BCAR1,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CALB2,CDH1,CDH13,CDH3,CDYL2,CENPN,CFDP1,CHST4,CHST5,CHST6,CHTF8,CIRH1A,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CNTNAP4,COG4,COG8,COTL1,COX4I1,CRISPLD2,CTRB1,CTRB2,CTU2,CYB5B,CYBA,DDX19A,DDX19B,DHODH,DHX38,DNAAF1,DYNLRB2,EMC8,ESRP2,EXOSC6,FA2H,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GINS2,GLG1,HAS3,HP,HPR,HSBP1,HSD17B2,HSDL1,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283922,LOC400548,LOC732275,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR140,MIR1538,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NECAB2,NFAT5,NFATC3,NIP7,NOB1,NQO1,NUDT7,OSGIN1,PDF,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLA2G15,PLCG2,PMFBP1,PRMT7,PSMD7,RFWD3,RNF166,SDR42E1,SF3B3,SLC38A8,SLC7A5,SLC7A6,SLC7A6OS,SMPD3,SNAI3,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,ST3GAL2,SYCE1L,TAF1C,TAT,TERF2,TERF2IP,TMCO7,TMED6,TMEM170A,TMEM231,TXNL4B,USP10,VAC14,VAT1L,VPS4A,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZFPM1,ZNF19,ZNF23,ZNF469,ZNF821,ZNRF1 chr1 6682059 7947070 Deletion Normal Arbitrated Peel-off 21527027 CAMTA1,DNAJC11,PER3,PHF13,THAP3,UTS2,VAMP3 chr1 6682059 8309316 Deletion Normal GeneGISTIC 21527027 CAMTA1,DNAJC11,ERRFI1,PARK7,PER3,PHF13,THAP3,TNFRSF9,UTS2,VAMP3 chr1 6682059 8309316 Deletion Normal Standard peel-off 21527027 CAMTA1,DNAJC11,ERRFI1,PARK7,PER3,PHF13,THAP3,TNFRSF9,UTS2,VAMP3 chr16 68220590 68220690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFATC3 chr16 68227480 69411838 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH1,CDH3,CHTF8,CIRH1A,COG8,ESRP2,HAS3,NFATC3,NIP7,PDF,PLA2G15,PRMT7,SLC7A6,SLC7A6OS,SMPD3,SNTB2,TERF2,TMCO7,TMED6,VPS4A,ZFP90 chr16 68227664 68227763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFATC3 chr16 68250000 68860000 Loss Breast cancer aCGH 21509527 CDH1,CDH3,ESRP2,NFATC3,PLA2G15,PRMT7,SLC7A6,SLC7A6OS,SMPD3,ZFP90 chr16 682501 695830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf13,FAM195A,WFIKKN1 chr16 682501 695830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf13,FAM195A,WFIKKN1 chr16 682508 695809 Gain and loss Pancreatic cancer SNP array 17952125 C16orf13,FAM195A,WFIKKN1 chr16 68269082 68269159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESRP2 chr16 6828720 6828820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 68292004 69753654 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CDH1,CDH3,CHTF8,CIRH1A,COG8,CYB5B,HAS3,MIR1538,NFAT5,NIP7,NQO1,PDF,PLA2G15,PRMT7,SLC7A6,SLC7A6OS,SMPD3,SNTB2,TERF2,TMCO7,TMED6,VPS4A,ZFP90 chr16 68299978 68300079 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A6 chr16 68299978 68300079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A6 chr16 68300807 68317893 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A6 chr16 68300808 68318034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC7A6 chr16 68300808 68318034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A6 chr16 68333276 68346330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRMT7,SLC7A6,SLC7A6OS chr16 68333276 68346330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRMT7,SLC7A6,SLC7A6OS chr16 68333276 68346344 Gain and loss Pancreatic cancer SNP array 17952125 PRMT7,SLC7A6,SLC7A6OS chr16 68353710 68533145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRMT7,SMPD3 chr16 68353710 68533145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRMT7,SMPD3 chr16 68353749 68533144 Gain and loss Pancreatic cancer SNP array 17952125 PRMT7,SMPD3 chr16 68353774 68533144 Copy number Lung cancer - 20668451 PRMT7,SMPD3 chr16 68353774 68533144 Gain or loss Breast cancer - 20668451 PRMT7,SMPD3 chr16 68353774 68533144 Gain or loss Cancer - 20668451 PRMT7,SMPD3 chr16 68353774 68533144 Gain or loss Lung cancer - 20668451 PRMT7,SMPD3 chr16 68353774 68533144 Gain or loss Ovarian cancer - 20668451 PRMT7,SMPD3 chr16 68353774 68533144 Gain or loss Pancreas cancer - 20668451 PRMT7,SMPD3 chr16 68353774 68533144 Gain or loss Prostate cancer - 20668451 PRMT7,SMPD3 chr16 68372441 68372528 Gain and loss Pancreatic cancer SNP array 17952125 PRMT7 chr16 68372441 68372528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRMT7 chr16 68377397 68377491 Gain and loss Pancreatic cancer SNP array 17952125 PRMT7 chr16 68377397 68377491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRMT7 chr16 68390447 68390547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT7 chr16 6840000 8440000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 RBFOX1 chr16 68411201 69397900 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH1,CDH3,CHTF8,CIRH1A,COG8,HAS3,NIP7,PDF,SMPD3,SNTB2,TERF2,TMCO7,TMED6,VPS4A,ZFP90 chr16 68411831 68416303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMPD3 chr16 68412623 68870723 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CDH1,CDH3,SMPD3,ZFP90 chr16 68412623 68870723 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH1,CDH3,SMPD3,ZFP90 chr16 68470863 68470963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMPD3 chr16 68488152 68488252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 68497215 68498215 Loss Chordoma References 21215367 NOT_FOUND chr16 68497911 68501070 Loss Normal 244K array 17666407 NOT_FOUND chr16 68518501 68557500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 68519797 68772384 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH1,CDH3,ZFP90 chr16 68524485 68524584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 68524485 68524584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 68531949 68803414 Duplication Normal Affymetrix 6.0 microarrays 20967226 CDH1,CDH3,ZFP90 chr16 68534408 68575859 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ZFP90 chr16 68542311 68555388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 68542311 68555388 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 68542311 68555388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 68544064 68870723 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH1,CDH3,ZFP90 chr16 68544064 68870723 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH1,CDH3,ZFP90 chr16 68547412 68645625 Amplification or deletion Cancer Array CGH 17440070 ZFP90 chr16 68550770 68550870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 68560016 68826357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH1,CDH3,ZFP90 chr16 68567713 68657352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFP90 chr16 68567713 68657352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFP90 chr16 68567909 68582208 Gain and loss Pancreatic cancer SNP array 17952125 ZFP90 chr16 68573058 68842253 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CDH1,CDH3,ZFP90 chr16 68573058 68842253 Copy number gain Normal High-resolution SNP genotyping 21211785 CDH1,CDH3,ZFP90 chr16 68585631 68829994 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CDH1,CDH3,ZFP90 chr16 6858731 6858816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 68602144 68630379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 68603283 68829994 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CDH1,CDH3 chr16 68604862 68838427 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CDH1,CDH3 chr16 68607297 68709028 Gain Normal Birdsuite, version 1.5.2 22087296 CDH3 chr16 68609343 68806723 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CDH1,CDH3 chr16 68609343 68829994 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CDH1,CDH3 chr16 68609343 68840958 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CDH1,CDH3 chr16 68609343 68840958 Copy number gain Normal High-resolution SNP genotyping 21211785 CDH1,CDH3 chr16 6863901 6864007 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX1 chr16 6863901 6864007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX1 chr16 6863902 6864007 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX1 chr16 68643203 68797292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH1,CDH3 chr16 68674100 68877374 Loss or gain Normal 244K array 17666407 CDH1,CDH3 chr16 68677242 68839267 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDH1,CDH3 chr16 68677242 68854619 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDH1,CDH3 chr16 68677242 68858699 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDH1,CDH3 chr16 68690128 68870723 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH1,CDH3 chr16 68690128 68870723 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH1,CDH3 chr16 68698718 68797051 Copy number Lung cancer paired-end sequencing 18438408 CDH1,CDH3 chr16 68702855 68754003 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CDH3 chr16 68705030 68752685 Gain and loss Pancreatic cancer SNP array 17952125 CDH3 chr16 68705030 68752706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH3 chr16 68705030 68752706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH3 chr16 68709016 68811310 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CDH1,CDH3 chr16 68709016 68812148 Duplication Normal Affymetrix 6.0 microarrays 20967226 CDH1,CDH3 chr16 68709016 68839267 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CDH1,CDH3 chr16 68709028 68709060 Gain Normal Birdsuite, version 1.5.2 22087296 CDH3 chr16 68709060 68709061 Gain Normal Birdsuite, version 1.5.2 22087296 CDH3 chr16 68709061 68744695 Gain Normal Birdsuite, version 1.5.2 22087296 CDH3 chr16 68709061 68755857 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CDH3 chr16 68709061 68811322 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CDH1,CDH3 chr16 68732367 68753268 Loss Autism 1M Ailent CGH whole-genome array 21865298 CDH3 chr16 68735149 68803921 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CDH1 chr16 68737715 68792024 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CDH1 chr16 68744695 68755857 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 68748870 68754003 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 68751390 68751443 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr16 68755857 68770545 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 68765223 68778297 Gain and loss Pancreatic cancer SNP array 17952125 CDH1 chr16 68765429 68778297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH1 chr16 68765429 68778297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH1 chr16 68765900 69136452 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH1,TMCO7 chr16 68771194 68869444 Loss Breast cancer Qiagen RNeasy Mini Kit 21633010 CDH1 chr16 68772637 69838272 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CDH1,CHTF8,CIRH1A,COG8,CYB5B,HAS3,MIR1538,NFAT5,NIP7,NOB1,NQO1,PDF,SNTB2,TERF2,TMCO7,TMED6,VPS4A,WWP2 chr16 68811710 68826847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH1 chr16 68813784 68838038 Gain and loss Pancreatic cancer SNP array 17952125 CDH1 chr16 68824385 68824486 Gain and loss Pancreatic cancer SNP array 17952125 CDH1 chr16 68824385 68824486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH1 chr16 68838182 68843334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH1 chr16 68838182 68843334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH1 chr16 68842486 68843304 Gain and loss Pancreatic cancer SNP array 17952125 CDH1 chr16 68843798 68880913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH1,TMCO7 chr16 68843798 68880913 Gain and loss Pancreatic cancer SNP array 17952125 CDH1,TMCO7 chr16 68843798 68880913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH1,TMCO7 chr16 68849042 68929053 Gain Normal Birdsuite, version 1.5.2 22087296 CDH1,TMCO7 chr16 68849481 69388324 Copy number Lung cancer paired-end sequencing 18438408 CDH1,CHTF8,CIRH1A,COG8,HAS3,NIP7,PDF,SNTB2,TMCO7,TMED6,VPS4A chr16 6888176 6918876 Copy number Schizophrenia - 18511947 RBFOX1 chr16 68886528 69960112 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 CHTF8,CIRH1A,COG8,CYB5B,HAS3,MIR1538,NFAT5,NIP7,NOB1,NQO1,PDF,SNTB2,TERF2,TMCO7,TMED6,VPS4A,WWP2 chr16 68890572 68964782 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TMCO7 chr16 68890573 68925230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 68890573 68925230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 68890598 68925230 Gain and loss Pancreatic cancer SNP array 17952125 TMCO7 chr1 66891198 66904603 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 68938322 68964780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 68938322 68964780 Gain and loss Pancreatic cancer SNP array 17952125 TMCO7 chr16 68938322 68964780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 68957901 68958001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMCO7 chr16 68970839 69030492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 68970839 69030492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 68971216 69030492 Gain and loss Pancreatic cancer SNP array 17952125 TMCO7 chr16 6897740 6898441 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX1 chr16 6897924 6897941 Deletion Medulloblastoma Illumina SNP arrays 21163964 RBFOX1 chr16 69036697 69036803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 69036700 69036803 Gain and loss Pancreatic cancer SNP array 17952125 TMCO7 chr16 69045999 69071677 Gain and loss Pancreatic cancer SNP array 17952125 TMCO7 chr16 69045999 69071678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 69045999 69071678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 69049628 69049722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMCO7 chr16 69061501 69073000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMCO7 chr16 69071976 69114958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 69071976 69114958 Gain and loss Pancreatic cancer SNP array 17952125 TMCO7 chr16 69071976 69114958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCO7 chr16 69094985 69095297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMCO7 chr16 69110511 69110830 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMCO7 chr16 69115202 69163701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHTF8,HAS3,TMCO7 chr16 69115202 69163701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHTF8,HAS3,TMCO7 chr16 69115241 69163921 Gain and loss Pancreatic cancer SNP array 17952125 CHTF8,HAS3,TMCO7 chr16 69120913 69120992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 691227 691311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 69129409 69129502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 69136452 69421492 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHTF8,CIRH1A,COG8,HAS3,NIP7,PDF,SNTB2,TERF2,TMED6,VPS4A chr16 69171001 69184000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CIRH1A chr16 69201944 69202044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CIRH1A chr16 69237968 69252085 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SNTB2 chr16 69237969 69252085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNTB2 chr16 69237969 69252085 Gain and loss Pancreatic cancer SNP array 17952125 SNTB2 chr16 69237969 69252085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNTB2 chr16 69248001 69272500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNTB2 chr16 69251501 69354016 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 SNTB2,VPS4A chr16 69252608 69277455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNTB2 chr16 69252608 69277455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNTB2 chr16 69252681 69277195 Gain and loss Pancreatic cancer SNP array 17952125 SNTB2 chr16 69253071 69257240 Gain and loss Pancreatic cancer SNP array 17952125 SNTB2 chr16 69262304 69275762 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNTB2 chr16 69265309 69266309 Gain Chordoma References 21215367 SNTB2 chr16 69272501 69291500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNTB2 chr16 69278845 69392572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG8,NIP7,PDF,SNTB2,TERF2,TMED6,VPS4A chr16 69278845 69392572 Gain and loss Pancreatic cancer SNP array 17952125 COG8,NIP7,PDF,SNTB2,TERF2,TMED6,VPS4A chr16 69278845 69392572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG8,NIP7,PDF,SNTB2,TERF2,TMED6,VPS4A chr16 69280411 69280940 Gain and loss Pancreatic cancer SNP array 17952125 SNTB2 chr16 69280411 69280940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNTB2 chr16 69291501 69355500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNTB2,VPS4A chr1 66930163 66956491 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 69322931 69875931 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 COG8,CYB5B,MIR1538,NFAT5,NIP7,NOB1,NQO1,PDF,SNTB2,TERF2,TMED6,VPS4A,WWP2 chr16 69346502 69364654 Gain and loss Pancreatic cancer SNP array 17952125 COG8,PDF,VPS4A chr16 69346537 69364646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG8,PDF,VPS4A chr16 69355501 69403000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COG8,NIP7,PDF,TERF2,TMED6,VPS4A chr16 69361400 69361500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 69364623 69874484 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 COG8,CYB5B,MIR1538,NFAT5,NIP7,NOB1,NQO1,TERF2,TMED6,WWP2 chr16 69369380 70612450 LOH Normal High-resolution SNP genotyping 21211785 AARS,CLEC18A,CLEC18C,COG4,COG8,CYB5B,DDX19A,DDX19B,EXOSC6,FUK,LOC100506060,LOC100506083,MIR140,MIR1538,MIR1972-1,MIR1972-2,NFAT5,NIP7,NOB1,NQO1,PDPR,PDXDC2P,SF3B3,SNORD111,SNORD111B,ST3GAL2,TERF2,TMED6,WWP2 chr16 69395723 69395846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TERF2 chr16 69397901 69777400 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYB5B,MIR1538,NFAT5,NOB1,NQO1,TERF2 chr16 69398789 69822070 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 CYB5B,MIR1538,NFAT5,NOB1,NQO1,TERF2,WWP2 chr16 69398791 69446554 Gain and loss Pancreatic cancer SNP array 17952125 TERF2 chr16 69398793 69822070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYB5B,MIR1538,NFAT5,NOB1,NQO1,TERF2,WWP2 chr16 69398793 69822070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYB5B,MIR1538,NFAT5,NOB1,NQO1,TERF2,WWP2 chr16 69400000 69800000 Gain Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 131 samples 21899760 CYB5B,MIR1538,NFAT5,NOB1,NQO1,TERF2,WWP2 chr16 69400000 73300000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 119 samples 21899760 AARS,AP1G1,ATXN1L,CALB2,CHST4,CLEC18A,CLEC18C,COG4,CYB5B,DDX19A,DDX19B,DHODH,DHX38,EXOSC6,FTSJD1,FUK,HP,HPR,HTA,HYDIN,IL34,IST1,LOC100130894,LOC100506060,LOC100506083,MARVELD3,MIR140,MIR1538,MIR1972-1,MIR1972-2,MTSS1L,NFAT5,NOB1,NQO1,PDPR,PDXDC2P,PHLPP2,PKD1L3,PMFBP1,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,TAT,TERF2,TXNL4B,VAC14,WWP2,ZFHX3,ZNF19,ZNF23,ZNF821 chr16 69402534 69753601 Copy number Lung cancer paired-end sequencing 18438408 CYB5B,MIR1538,NFAT5,NQO1,TERF2 chr16 69403001 69606000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYB5B,MIR1538,NFAT5,TERF2 chr16 69403428 69760528 Gain Non-syndromic sensorineural hearing loss BAC end sequencing 19587683 CYB5B,MIR1538,NFAT5,NQO1,TERF2 chr16 69404749 69760030 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CYB5B,MIR1538,NFAT5,NQO1,TERF2 chr16 69406623 69754335 Substitutions and indels small cell lung cancer array-CGH 20016488 CYB5B,MIR1538,NFAT5,NQO1,TERF2 chr16 69409 85537 Loss Normal 244K array 17666407 NOT_FOUND chr16 69421492 69820548 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CYB5B,MIR1538,NFAT5,NOB1,NQO1,WWP2 chr16 69426852 69426928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 69444102 69444186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 69444102 69444186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 69444102 69444225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 69446253 69477060 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYB5B chr16 69451249 69488138 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYB5B chr16 69464588 69464717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYB5B chr16 69474217 69475498 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CYB5B chr16 69485849 69525101 Gain and loss Pancreatic cancer SNP array 17952125 CYB5B chr16 69500855 69545517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 69529634 69604396 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR1538,NFAT5 chr16 69532791 69565973 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 69533301 69538700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 69535297 69537391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 69535863 69582939 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 69543004 70813070 Gain Bladder cancer array-CGH 21909424 AARS,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,EXOSC6,FUK,IL34,LOC100130894,LOC100506060,LOC100506083,MIR140,MIR1538,MIR1972-1,MIR1972-2,MTSS1L,NFAT5,NOB1,NQO1,PDPR,PDXDC2P,SF3B3,SNORD111,SNORD111B,ST3GAL2,VAC14,WWP2 chr16 695580 701235 Gain and loss Pancreatic cancer SNP array 17952125 FAM195A,WDR90 chr16 69564484 69589769 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 69565578 69565922 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr16 69576462 69822070 Gain and loss Pancreatic cancer SNP array 17952125 MIR1538,NFAT5,NOB1,NQO1,WWP2 chr16 695766 696426 Loss or gain Normal 244K array 17666407 FAM195A chr16 69579335 69588251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 69604094 69605500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFAT5 chr16 69606001 69760000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFAT5,NQO1 chr1 66960655 66960755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 69618511 69822070 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NFAT5,NOB1,NQO1,WWP2 chr16 69627047 70612450 LOH Normal High-resolution SNP genotyping 21211785 AARS,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,EXOSC6,FUK,LOC100506060,LOC100506083,MIR140,MIR1972-1,MIR1972-2,NFAT5,NOB1,NQO1,PDPR,PDXDC2P,SF3B3,SNORD111,SNORD111B,ST3GAL2,WWP2 chr16 69711614 69730788 Duplication Normal TaqMan assays 20972442 NFAT5 chr16 69711679 71473919 LOH Normal High-resolution SNP genotyping 21211785 AARS,CALB2,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,EXOSC6,FTSJD1,FUK,HYDIN,IL34,LOC100130894,LOC100506060,LOC100506083,MIR140,MIR1972-1,MIR1972-2,MTSS1L,NFAT5,NOB1,NQO1,PDPR,PDXDC2P,SF3B3,SNORD111,SNORD111B,ST3GAL2,VAC14,WWP2 chr1 66971601 66975900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 69721865 69722191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFAT5 chr16 69723588 69744131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NFAT5,NQO1 chr1 66972908 66973008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 66973793 66974124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 66975445 66978960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 69759339 70983255 Substitutions and indels small cell lung cancer array-CGH 20016488 AARS,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,EXOSC6,FUK,HYDIN,IL34,LOC100130894,LOC100506060,LOC100506083,MIR140,MIR1972-1,MIR1972-2,MTSS1L,NOB1,NQO1,PDPR,PDXDC2P,SF3B3,SNORD111,SNORD111B,ST3GAL2,VAC14,WWP2 chr16 69765380 70390833 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AARS,CLEC18A,CLEC18C,DDX19A,DDX19B,EXOSC6,LOC100506060,LOC100506083,MIR140,MIR1972-1,MIR1972-2,NOB1,PDPR,PDXDC2P,WWP2 chr16 69767601 73763726 Copy number Lung cancer paired-end sequencing 18438408 AARS,AP1G1,ATXN1L,CALB2,CHST4,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,DHODH,DHX38,EXOSC6,FTSJD1,FUK,HP,HPR,HTA,HYDIN,IL34,IST1,LOC100130894,LOC100506060,LOC100506083,LOC100506172,MARVELD3,MIR140,MIR1972-1,MIR1972-2,MTSS1L,NOB1,PDPR,PDXDC2P,PHLPP2,PKD1L3,PMFBP1,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,TAT,TXNL4B,VAC14,WWP2,ZFHX3,ZNF19,ZNF23,ZNF821 chr16 69777401 70156900 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC18A,MIR140,MIR1972-1,MIR1972-2,NOB1,PDPR,PDXDC2P,WWP2 chr16 69778425 75164434 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AARS,AP1G1,ATXN1L,CALB2,CHST4,CLEC18A,CLEC18B,CLEC18C,COG4,DDX19A,DDX19B,DHODH,DHX38,EXOSC6,FA2H,FTSJD1,FUK,GLG1,HP,HPR,HTA,HYDIN,IL34,IST1,LDHD,LOC100130894,LOC100506060,LOC100506083,LOC100506172,LOC283922,MARVELD3,MIR140,MIR1972-1,MIR1972-2,MLKL,MTSS1L,NOB1,PDPR,PDXDC2P,PHLPP2,PKD1L3,PMFBP1,PSMD7,RFWD3,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,TAT,TXNL4B,VAC14,WDR59,WWP2,ZFHX3,ZNF19,ZNF23,ZNF821,ZNRF1 chr16 69800000 73300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AARS,AP1G1,ATXN1L,CALB2,CHST4,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,DHODH,DHX38,EXOSC6,FTSJD1,FUK,HP,HPR,HTA,HYDIN,IL34,IST1,LOC100130894,LOC100506060,LOC100506083,MARVELD3,MIR140,MIR1972-1,MIR1972-2,MTSS1L,PDPR,PDXDC2P,PHLPP2,PKD1L3,PMFBP1,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,TAT,TXNL4B,VAC14,WWP2,ZFHX3,ZNF19,ZNF23,ZNF821 chr16 69800000 73300000 Deletion Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 AARS,AP1G1,ATXN1L,CALB2,CHST4,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,DHODH,DHX38,EXOSC6,FTSJD1,FUK,HP,HPR,HTA,HYDIN,IL34,IST1,LOC100130894,LOC100506060,LOC100506083,MARVELD3,MIR140,MIR1972-1,MIR1972-2,MTSS1L,PDPR,PDXDC2P,PHLPP2,PKD1L3,PMFBP1,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,TAT,TXNL4B,VAC14,WWP2,ZFHX3,ZNF19,ZNF23,ZNF821 chr16 69800000 73300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AARS,AP1G1,ATXN1L,CALB2,CHST4,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,DHODH,DHX38,EXOSC6,FTSJD1,FUK,HP,HPR,HTA,HYDIN,IL34,IST1,LOC100130894,LOC100506060,LOC100506083,MARVELD3,MIR140,MIR1972-1,MIR1972-2,MTSS1L,PDPR,PDXDC2P,PHLPP2,PKD1L3,PMFBP1,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,TAT,TXNL4B,VAC14,WWP2,ZFHX3,ZNF19,ZNF23,ZNF821 chr16 69800000 73300000 Loss Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AARS,AP1G1,ATXN1L,CALB2,CHST4,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,DHODH,DHX38,EXOSC6,FTSJD1,FUK,HP,HPR,HTA,HYDIN,IL34,IST1,LOC100130894,LOC100506060,LOC100506083,MARVELD3,MIR140,MIR1972-1,MIR1972-2,MTSS1L,PDPR,PDXDC2P,PHLPP2,PKD1L3,PMFBP1,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,TAT,TXNL4B,VAC14,WWP2,ZFHX3,ZNF19,ZNF23,ZNF821 chr16 69800000 88827254 Copy number Breast cancer - 21806811 AARS,ADAD2,ADAMTS18,ADAT1,AP1G1,ATMIN,ATP2C2,ATXN1L,BANP,BCAR1,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CALB2,CDH13,CDYL2,CENPN,CFDP1,CHST4,CHST5,CHST6,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CNTNAP4,COG4,COTL1,COX4I1,CRISPLD2,CTRB1,CTRB2,CTU2,CYBA,DDX19A,DDX19B,DHODH,DHX38,DNAAF1,DYNLRB2,EMC8,EXOSC6,FA2H,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GINS2,GLG1,HP,HPR,HSBP1,HSD17B2,HSDL1,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283922,LOC400548,LOC732275,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR140,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NECAB2,NUDT7,OSGIN1,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLCG2,PMFBP1,PSMD7,RFWD3,RNF166,SDR42E1,SF3B3,SLC38A8,SLC7A5,SNAI3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,SYCE1L,TAF1C,TAT,TERF2IP,TMEM170A,TMEM231,TXNL4B,USP10,VAC14,VAT1L,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC7,ZFHX3,ZFP1,ZFPM1,ZNF19,ZNF23,ZNF469,ZNF821,ZNRF1 chr1 66980717 66981039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 69826657 69871353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWP2 chr16 69835853 88827254 Copy number gain Normal High-resolution SNP genotyping 21211785 AARS,ADAD2,ADAMTS18,ADAT1,AP1G1,ATMIN,ATP2C2,ATXN1L,BANP,BCAR1,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CALB2,CDH13,CDYL2,CENPN,CFDP1,CHST4,CHST5,CHST6,CLEC18A,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CNTNAP4,COG4,COTL1,COX4I1,CRISPLD2,CTRB1,CTRB2,CTU2,CYBA,DDX19A,DDX19B,DHODH,DHX38,DNAAF1,DYNLRB2,EMC8,EXOSC6,FA2H,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GINS2,GLG1,HP,HPR,HSBP1,HSD17B2,HSDL1,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100506060,LOC100506083,LOC100506172,LOC146513,LOC283922,LOC400548,LOC732275,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR140,MIR1910,MIR1972-1,MIR1972-2,MIR3182,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NECAB2,NUDT7,OSGIN1,PDPR,PDXDC2P,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLCG2,PMFBP1,PSMD7,RFWD3,RNF166,SDR42E1,SF3B3,SLC38A8,SLC7A5,SNAI3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,SYCE1L,TAF1C,TAT,TERF2IP,TMEM170A,TMEM231,TXNL4B,USP10,VAC14,VAT1L,WDR59,WFDC1,WWOX,WWP2,ZC3H18,ZCCHC14,ZDHHC7,ZFHX3,ZFP1,ZFPM1,ZNF19,ZNF23,ZNF469,ZNF821,ZNRF1 chr16 69838272 70547795 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 AARS,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,EXOSC6,FUK,LOC100506060,LOC100506083,MIR140,MIR1972-1,MIR1972-2,PDPR,PDXDC2P,ST3GAL2,WWP2 chr16 69852159 69875285 Allelic imbalance Normal High-resolution SNP genotyping 21211785 WWP2 chr16 69871176 69890120 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWP2 chr16 69871869 69884175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWP2 chr16 69873703 69881010 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 WWP2 chr16 69873704 69881013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WWP2 chr16 69873704 69881013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWP2 chr16 69873707 69881013 Gain and loss Pancreatic cancer SNP array 17952125 WWP2 chr16 69874078 69888318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWP2 chr16 69877995 69878027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWP2 chr16 69896482 71471460 LOH Normal High-resolution SNP genotyping 21211785 AARS,CALB2,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,EXOSC6,FTSJD1,FUK,HYDIN,IL34,LOC100130894,LOC100506060,LOC100506083,MIR140,MIR1972-1,MIR1972-2,MTSS1L,PDPR,PDXDC2P,SF3B3,SNORD111,SNORD111B,ST3GAL2,VAC14,WWP2 chr1 66990595 67102591 Gain and loss Pancreatic cancer SNP array 17952125 MIR3117,SGIP1 chr1 66990730 67017058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGIP1 chr1 66990730 67017058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGIP1 chr16 69913424 69918065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WWP2 chr16 69922593 69922703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWP2 chr16 6994009 6994114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX1 chr16 69950127 69981836 Gain and loss Pancreatic cancer SNP array 17952125 MIR140,WWP2 chr16 69950127 69981840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR140,WWP2 chr16 69950127 69981840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR140,WWP2 chr16 69987425 70647241 Gain Autism - 20841430 AARS,CLEC18A,CLEC18C,COG4,DDX19A,DDX19B,EXOSC6,FUK,IL34,LOC100506060,LOC100506083,MIR1972-1,MIR1972-2,PDPR,PDXDC2P,SF3B3,SNORD111,SNORD111B,ST3GAL2 chr16 70010000 84688200 Loss Prostate cancer Array CGH 18632612 AARS,ADAD2,ADAMTS18,ADAT1,AP1G1,ATMIN,ATP2C2,ATXN1L,BCAR1,BCMO1,C16orf46,CALB2,CDH13,CDYL2,CENPN,CFDP1,CHST4,CHST5,CHST6,CLEC18B,CLEC18C,CLEC3A,CMC2,CMIP,CNTNAP4,COG4,COTL1,CTRB1,CTRB2,DDX19A,DDX19B,DHODH,DHX38,DNAAF1,DYNLRB2,EXOSC6,FA2H,FTSJD1,FUK,GABARAPL2,GAN,GCSH,GLG1,HP,HPR,HSBP1,HSD17B2,HSDL1,HTA,HYDIN,IL34,IST1,KARS,KCNG4,KIAA1609,KLHL36,LDHD,LOC100129617,LOC100130894,LOC100506060,LOC100506083,LOC100506172,LOC283922,MAF,MARVELD3,MBTPS1,MIR1972-1,MIR1972-2,MIR3182,MIR4719,MIR4720,MLKL,MLYCD,MON1B,MPHOSPH6,MTSS1L,NECAB2,NUDT7,OSGIN1,PDPR,PDXDC2P,PHLPP2,PKD1L2,PKD1L3,PLCG2,PMFBP1,PSMD7,RFWD3,SDR42E1,SF3B3,SLC38A8,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,SYCE1L,TAF1C,TAT,TERF2IP,TMEM170A,TMEM231,TXNL4B,VAC14,VAT1L,WDR59,WFDC1,WWOX,ZFHX3,ZFP1,ZNF19,ZNF23,ZNF821,ZNRF1 chr16 70039001 70053651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDXDC2P chr16 70039001 70053651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDXDC2P chr16 70039006 70053651 Gain and loss Pancreatic cancer SNP array 17952125 PDXDC2P chr16 70065477 70080755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDXDC2P chr16 70065477 70080755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDXDC2P chr16 70065563 70080742 Gain and loss Pancreatic cancer SNP array 17952125 PDXDC2P chr1 67008163 67008263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGIP1 chr16 7010498 7296058 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 RBFOX1 chr16 70117560 70129910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 70117560 70129910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 70117560 70129910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 70131361 70649096 LOH Normal High-resolution SNP genotyping 21211785 AARS,CLEC18C,COG4,DDX19A,DDX19B,EXOSC6,FUK,IL34,LOC100506060,LOC100506083,PDPR,SF3B3,SNORD111,SNORD111B,ST3GAL2 chr16 70156901 70435200 Copy number Normal ReadDepth: A Parallel R Package 21305028 AARS,CLEC18C,DDX19A,DDX19B,EXOSC6,LOC100506060,LOC100506083,PDPR,ST3GAL2 chr16 70158255 70168496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDPR chr16 70158255 70168496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDPR chr16 70158292 70168496 Gain and loss Pancreatic cancer SNP array 17952125 PDPR chr16 70192850 70192950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDPR chr16 70196702 70196802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 70217571 70233367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC18C chr16 70217571 70233367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC18C chr16 70217590 70233367 Gain and loss Pancreatic cancer SNP array 17952125 CLEC18C chr16 70223486 70480682 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 AARS,DDX19A,DDX19B,EXOSC6,LOC100506060,LOC100506083,ST3GAL2 chr16 70229240 70315216 Gain and loss Pancreatic cancer SNP array 17952125 AARS,EXOSC6,LOC100506060 chr16 70232304 70306205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AARS,EXOSC6,LOC100506060 chr16 70232304 70306205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AARS,EXOSC6,LOC100506060 chr16 70257495 70257598 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506060 chr16 70257495 70257599 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506060 chr16 70257495 70257601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506060 chr16 70289971 70290105 Gain and loss Pancreatic cancer SNP array 17952125 AARS chr16 70289971 70290105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AARS chr16 70310909 70312963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AARS chr16 70320404 70400477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AARS,DDX19A,DDX19B,LOC100506083 chr16 70320404 70400477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AARS,DDX19A,DDX19B,LOC100506083 chr16 70320416 70400477 Gain and loss Pancreatic cancer SNP array 17952125 AARS,DDX19A,DDX19B,LOC100506083 chr16 70349806 70349891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX19B,LOC100506083 chr1 67036012 67039527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGIP1 chr1 67036012 67039527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGIP1 chr16 70367035 71028485 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COG4,DDX19A,DDX19B,FUK,HYDIN,IL34,LOC100130894,LOC100506083,MTSS1L,SF3B3,SNORD111,SNORD111B,ST3GAL2,VAC14 chr16 7037413 7037448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 70405599 70672619 Copy number Normal Quantitative Real-Time PCR 17666543 COG4,DDX19A,FUK,IL34,SF3B3,SNORD111,SNORD111B,ST3GAL2 chr16 70433338 79533419 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ADAMTS18,ADAT1,AP1G1,ATXN1L,BCAR1,CALB2,CFDP1,CHST4,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,COG4,CTRB1,CTRB2,DHODH,DHX38,FA2H,FTSJD1,FUK,GABARAPL2,GLG1,HP,HPR,HTA,HYDIN,IL34,IST1,KARS,LDHD,LOC100130894,LOC100506172,LOC283922,MARVELD3,MIR4719,MLKL,MON1B,MTSS1L,NUDT7,PHLPP2,PKD1L3,PMFBP1,PSMD7,RFWD3,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,SYCE1L,TAT,TERF2IP,TMEM170A,TMEM231,TXNL4B,VAC14,VAT1L,WDR59,WWOX,ZFHX3,ZFP1,ZNF19,ZNF23,ZNF821,ZNRF1 chr16 70435201 70966500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COG4,FUK,HYDIN,IL34,LOC100130894,MTSS1L,SF3B3,SNORD111,SNORD111B,ST3GAL2,VAC14 chr16 70451090 70475551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL2 chr16 70451090 70475551 Gain and loss Pancreatic cancer SNP array 17952125 ST3GAL2 chr16 70451090 70475551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL2 chr1 67046498 69204632 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf141,DEPDC1,DIRAS3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INSL5,MIER1,MIR1262,MIR3117,RPE65,SERBP1,SGIP1,SLC35D1,TCTEX1D1,WDR78,WLS chr16 70481972 70520407 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 COG4,FUK chr16 70486940 70520407 Gain and loss Pancreatic cancer SNP array 17952125 COG4,FUK chr16 70486946 70520407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG4,FUK chr16 70486946 70520407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG4,FUK chr16 70492292 70526487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COG4,FUK chr1 67051162 67163158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3117,SGIP1 chr1 67051162 67163158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3117,SGIP1 chr16 70517227 70517302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COG4 chr16 705173 707481 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 WDR90 chr16 705174 707479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR90 chr16 705174 707479 Gain and loss Pancreatic cancer SNP array 17952125 WDR90 chr16 705174 707479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR90 chr16 70520942 70591378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG4,SF3B3,SNORD111,SNORD111B chr16 70520942 70591378 Gain and loss Pancreatic cancer SNP array 17952125 COG4,SF3B3,SNORD111,SNORD111B chr16 70520942 70591378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG4,SF3B3,SNORD111,SNORD111B chr16 70533845 70831848 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 COG4,IL34,LOC100130894,MTSS1L,SF3B3,SNORD111,SNORD111B,VAC14 chr16 70592861 88827254 Deletion Normal Standard GISTIC 21527027 ADAD2,ADAMTS18,ADAT1,AP1G1,ATMIN,ATP2C2,ATXN1L,BANP,BCAR1,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CALB2,CDH13,CDYL2,CENPN,CFDP1,CHST4,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,COTL1,COX4I1,CRISPLD2,CTRB1,CTRB2,CTU2,CYBA,DHODH,DHX38,DNAAF1,DYNLRB2,EMC8,FA2H,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTSJD1,GABARAPL2,GAN,GCSH,GINS2,GLG1,HP,HPR,HSBP1,HSD17B2,HSDL1,HTA,HYDIN,IL17C,IL34,IRF8,IST1,JPH3,KARS,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LDHD,LINC00311,LOC100129617,LOC100130894,LOC100506172,LOC146513,LOC283922,LOC400548,LOC732275,MAF,MAP1LC3B,MARVELD3,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MTSS1L,MVD,NECAB2,NUDT7,OSGIN1,PHLPP2,PIEZO1,PKD1L2,PKD1L3,PLCG2,PMFBP1,PSMD7,RFWD3,RNF166,SDR42E1,SF3B3,SLC38A8,SLC7A5,SNAI3,SNORA70D,SNORD71,SYCE1L,TAF1C,TAT,TERF2IP,TMEM170A,TMEM231,TXNL4B,USP10,VAC14,VAT1L,WDR59,WFDC1,WWOX,ZC3H18,ZCCHC14,ZDHHC7,ZFHX3,ZFP1,ZFPM1,ZNF19,ZNF23,ZNF469,ZNF821,ZNRF1 chr16 70596538 70597946 Gain and loss Pancreatic cancer SNP array 17952125 SF3B3 chr16 70600144 70616455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL34,SF3B3 chr16 70600144 70616455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL34,SF3B3 chr16 70600164 70616456 Gain and loss Pancreatic cancer SNP array 17952125 IL34,SF3B3 chr16 70607264 70607317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SF3B3 chr16 70630000 74660000 Loss Breast cancer aCGH 21509527 AP1G1,ATXN1L,CALB2,CHST4,CLEC18B,DHODH,DHX38,FTSJD1,GLG1,HP,HPR,HTA,HYDIN,IL34,IST1,LOC100130894,LOC100506172,LOC283922,MARVELD3,MTSS1L,PHLPP2,PKD1L3,PMFBP1,PSMD7,RFWD3,SNORA70D,SNORD71,TAT,TXNL4B,VAC14,ZFHX3,ZNF19,ZNF23,ZNF821 chr16 70631934 77523571 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 ADAMTS18,ADAT1,AP1G1,ATXN1L,BCAR1,CALB2,CFDP1,CHST4,CHST5,CHST6,CLEC18B,CNTNAP4,CTRB1,CTRB2,DHODH,DHX38,FA2H,FTSJD1,GABARAPL2,GLG1,HP,HPR,HTA,HYDIN,IL34,IST1,KARS,LDHD,LOC100130894,LOC100506172,LOC283922,MARVELD3,MIR4719,MLKL,MON1B,MTSS1L,PHLPP2,PKD1L3,PMFBP1,PSMD7,RFWD3,SNORA70D,SNORD71,SYCE1L,TAT,TERF2IP,TMEM170A,TMEM231,TXNL4B,VAC14,WDR59,ZFHX3,ZFP1,ZNF19,ZNF23,ZNF821,ZNRF1 chr16 70646001 70669798 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IL34 chr16 70646009 70668646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL34 chr16 70646009 70668646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL34 chr16 70646026 70652454 Gain and loss Pancreatic cancer SNP array 17952125 IL34 chr16 70648570 70651812 Loss Autism 1M Ailent CGH whole-genome array 21865298 IL34 chr16 70653305 70654528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL34 chr16 70653608 70669840 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 IL34 chr16 70655469 70675458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL34 chr16 70666462 70671389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL34 chr16 70676259 70685015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL34 chr16 70676259 70685015 Gain and loss Pancreatic cancer SNP array 17952125 IL34 chr16 70676259 70685015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL34 chr16 7068172 7068204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 70685116 70704311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL34,MTSS1L chr16 70685116 70704311 Gain and loss Pancreatic cancer SNP array 17952125 IL34,MTSS1L chr16 70685116 70704311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL34,MTSS1L chr1 67070000 69950000 Loss Acute lymphoblastic leukemia - 21339820 C1orf141,DEPDC1,DIRAS3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INSL5,MIER1,MIR1262,MIR3117,RPE65,SERBP1,SGIP1,SLC35D1,TCTEX1D1,WDR78,WLS chr16 70706858 70741353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTSS1L,VAC14 chr16 70708520 70708620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTSS1L chr16 70710500 70763525 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MTSS1L,VAC14 chr16 70710500 70763525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTSS1L,VAC14 chr16 70710500 70763525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTSS1L,VAC14 chr16 70710500 70763561 Gain and loss Pancreatic cancer SNP array 17952125 MTSS1L,VAC14 chr16 70712948 70712999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTSS1L chr16 70732657 71028485 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HYDIN,LOC100130894,VAC14 chr16 7073764 7109087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBFOX1 chr1 67074000 69951000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 C1orf141,DEPDC1,DIRAS3,GADD45A,GNG12,GNG12-AS1,IL12RB2,IL23R,INSL5,MIER1,MIR1262,MIR3117,RPE65,SERBP1,SGIP1,SLC35D1,TCTEX1D1,WDR78,WLS chr16 70760000 71460000 Loss Acute lymphoblastic leukemia - 21339820 CALB2,FTSJD1,HYDIN,LOC100130894,VAC14 chr16 70788195 72195088 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 AP1G1,ATXN1L,CALB2,CHST4,DHODH,DHX38,FTSJD1,HP,HPR,HYDIN,IST1,LOC100130894,MARVELD3,PHLPP2,PKD1L3,PMFBP1,SNORA70D,SNORD71,TAT,TXNL4B,VAC14,ZNF19,ZNF23,ZNF821 chr16 70836111 70836210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 70887955 71454095 LOH Normal High-resolution SNP genotyping 21211785 CALB2,FTSJD1,HYDIN chr16 7089113 7090113 Gain Osteosarcoma References 21215367 RBFOX1 chr16 70894710 70894810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 70906818 70906888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 70909763 70954840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HYDIN chr16 70938484 71171821 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 HYDIN chr1 67094250 67096885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SGIP1 chr16 70949410 70949479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 70966501 71371300 Copy number Normal ReadDepth: A Parallel R Package 21305028 FTSJD1,HYDIN chr16 70968104 70968219 Gain and loss Pancreatic cancer SNP array 17952125 HYDIN chr16 70968104 70968219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYDIN chr16 70977183 70977283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 70986340 70986440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 7098667 7098902 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 RBFOX1 chr16 70988067 83325567 Substitutions and indels small cell lung cancer array-CGH 20016488 ADAMTS18,ADAT1,AP1G1,ATMIN,ATXN1L,BCAR1,BCMO1,C16orf46,CALB2,CDH13,CDYL2,CENPN,CFDP1,CHST4,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,CTRB1,CTRB2,DHODH,DHX38,DYNLRB2,FA2H,FTSJD1,GABARAPL2,GAN,GCSH,GLG1,HP,HPR,HSD17B2,HTA,HYDIN,IST1,KARS,LDHD,LOC100129617,LOC100506172,LOC283922,MAF,MARVELD3,MIR4719,MIR4720,MLKL,MON1B,MPHOSPH6,NUDT7,PHLPP2,PKD1L2,PKD1L3,PLCG2,PMFBP1,PSMD7,RFWD3,SDR42E1,SNORA70D,SNORD71,SYCE1L,TAT,TERF2IP,TMEM170A,TMEM231,TXNL4B,VAT1L,WDR59,WWOX,ZFHX3,ZFP1,ZNF19,ZNF23,ZNF821,ZNRF1 chr16 71006393 71006493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 7100856 7101174 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 RBFOX1 chr16 7100856 7101178 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 RBFOX1 chr16 7100856 7101209 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 RBFOX1 chr16 71020585 71020685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr1 67102661 67165734 Gain and loss Pancreatic cancer SNP array 17952125 SGIP1 chr16 71027815 71028058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71027896 71028025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 710582 712590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR90 chr16 710582 712590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR90 chr16 71060112 71060321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71060182 71060313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 7107758 7108087 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX1 chr16 71082176 71082213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71096607 71096693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71099217 71099272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71115348 71115448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 711158 712591 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 WDR90 chr16 711159 712590 Gain and loss Pancreatic cancer SNP array 17952125 WDR90 chr16 71123335 71123619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HYDIN chr16 71125031 71125131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71131355 71131455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71131357 71131614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71170942 71171037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYDIN chr16 71200358 71200416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HYDIN chr16 71203450 71629089 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CALB2,CHST4,FTSJD1,HYDIN,TAT,ZNF19,ZNF23 chr16 71203450 72231717 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AP1G1,ATXN1L,CALB2,CHST4,DHODH,DHX38,FTSJD1,HP,HPR,HYDIN,IST1,MARVELD3,PHLPP2,PKD1L3,PMFBP1,SNORA70D,SNORD71,TAT,TXNL4B,ZNF19,ZNF23,ZNF821 chr16 71204293 71489962 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CALB2,FTSJD1,HYDIN,ZNF23 chr16 712584 716460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR90 chr16 712584 716460 Gain and loss Pancreatic cancer SNP array 17952125 WDR90 chr16 712584 716460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR90 chr16 71264902 71264971 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 7130898 7174339 Loss Normal Birdsuite, version 1.5.2 22087296 RBFOX1 chr16 71310794 71311098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 71348484 71348584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 71359463 71377555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 71371301 74356700 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP1G1,ATXN1L,CALB2,CHST4,DHODH,DHX38,HP,HPR,HTA,IST1,LOC100506172,MARVELD3,PHLPP2,PKD1L3,PMFBP1,PSMD7,SNORA70D,SNORD71,TAT,TXNL4B,ZFHX3,ZNF19,ZNF23,ZNF821 chr16 71374285 71639775 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CALB2,CHST4,TAT,ZNF19,ZNF23 chr16 71374285 71639775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALB2,CHST4,TAT,ZNF19,ZNF23 chr16 71374285 71639775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALB2,CHST4,TAT,ZNF19,ZNF23 chr16 71378468 71639775 Gain and loss Pancreatic cancer SNP array 17952125 CALB2,CHST4,TAT,ZNF19,ZNF23 chr16 71413333 71413393 Gain and loss Pancreatic cancer SNP array 17952125 CALB2 chr1 67141890 67141990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGIP1 chr1 67153227 67226890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGIP1,TCTEX1D1 chr1 67153227 67226890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGIP1,TCTEX1D1 chr16 71549914 71550670 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 71576257 71576354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 71580216 71580316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 71586 574806 Gain and loss Pancreatic cancer SNP array 17952125 ARHGDIG,AXIN1,DECR2,HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,LOC100134368,LUC7L,MPG,MRPL28,NME4,NPRL3,PDIA2,POLR3K,RAB11FIP3,RGS11,RHBDF1,SNRNP25,TMEM8A chr16 71600278 71600331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 71614493 71645862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 67163229 67226890 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SGIP1,TCTEX1D1 chr16 7165286 7178645 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBFOX1 chr16 71661282 76344466 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAT1,AP1G1,ATXN1L,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CNTNAP4,CTRB1,CTRB2,DHODH,DHX38,FA2H,GABARAPL2,GLG1,HP,HPR,HTA,IST1,KARS,LDHD,LOC100506172,LOC283922,MARVELD3,MLKL,PHLPP2,PKD1L3,PMFBP1,PSMD7,RFWD3,SNORA70D,SNORD71,TERF2IP,TMEM170A,TMEM231,TXNL4B,WDR59,ZFHX3,ZFP1,ZNF821,ZNRF1 chr16 7167598 7167698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 716959 719457 Gain and loss Pancreatic cancer SNP array 17952125 RHOT2,WDR90 chr16 716959 737296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JMJD8,RHBDL1,RHOT2,STUB1,WDR24,WDR90 chr16 716959 737296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JMJD8,RHBDL1,RHOT2,STUB1,WDR24,WDR90 chr16 71700862 71700962 Gain and loss Pancreatic cancer SNP array 17952125 PHLPP2 chr16 71700862 71700962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHLPP2 chr16 71701893 71701993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHLPP2 chr16 71717200 71720274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PHLPP2 chr16 71718038 71735847 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PHLPP2,SNORA70D chr16 71718038 71735847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHLPP2,SNORA70D chr16 71718038 71735847 Gain and loss Pancreatic cancer SNP array 17952125 PHLPP2,SNORA70D chr16 71718038 71735847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHLPP2,SNORA70D chr16 71755303 71755519 Gain Normal 244K array 17666407 NOT_FOUND chr16 71771129 71771704 Gain Normal 244K array 17666407 AP1G1 chr16 7180870 7181253 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 RBFOX1 chr1 67181498 104009233 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 ABCA4,ABCD3,ACADM,AGL,AK5,ALG14,ANKRD13C,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf141,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CRYZ,CTBS,CTH,CYR61,DBT,DDAH1,DEPDC1,DIRAS3,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,EXTL2,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG12,GNG12-AS1,GNG5,GPR88,GTF2B,HFM1,HHLA3,HIAT1,HS2ST1,HSP90B3P,IFI44,IFI44L,IL12RB2,IL23R,INSL5,KIAA1107,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIER1,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,ODF2L,OLFM3,PALMD,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RBMXL1,RNU6-6,RPAP2,RPE65,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SEP15,SERBP1,SGIP1,SH3GLB1,SLC30A7,SLC35A3,SLC35D1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TCTEX1D1,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TRMT13,TTLL7,TYW3,UOX,USP33,VCAM1,WDR63,WDR78,WLS,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 67181872 67231749 Gain and loss Pancreatic cancer SNP array 17952125 SGIP1,TCTEX1D1 chr16 7186459 7231400 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBFOX1 chr16 71871300 71871400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 71878001 71879500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 7188423 7188760 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 RBFOX1 chr16 71886147 71886247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATXN1L chr16 71956150 71964097 Gain Normal Birdsuite, version 1.5.2 22087296 IST1,PKD1L3 chr16 71975225 71987961 Gain Normal Birdsuite, version 1.5.2 22087296 PKD1L3 chr16 719767 730998 Gain and loss Pancreatic cancer SNP array 17952125 RHBDL1,RHOT2,STUB1 chr16 719769 730998 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 RHBDL1,RHOT2,STUB1 chr16 719772 730998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHBDL1,RHOT2,STUB1 chr16 719772 730998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHBDL1,RHOT2,STUB1 chr16 72048823 72048923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DHODH chr1 67207918 67208018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGIP1 chr16 72162507 72207421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PMFBP1 chr16 7217610 7234640 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBFOX1 chr16 72207211 72207303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 72208229 72208324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 7223181 7270339 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 RBFOX1 chr16 72256776 72258553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 7226822 8435529 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RBFOX1 chr16 72278115 72278188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 72286419 72286569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 72413000 73507000 Deletion Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 HTA,LOC100506172,ZFHX3 chr16 72413000 73507000 Deletion Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 HTA,LOC100506172,ZFHX3 chr1 67242267 67292668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INSL5,TCTEX1D1,WDR78 chr1 67242267 67292668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INSL5,TCTEX1D1,WDR78 chr16 72424503 72522439 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr16 724501 750000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBXL16,JMJD8,RHBDL1,STUB1,WDR24 chr16 72473951 72509291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 7249017 7249106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 72508336 72508436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 72531877 72558781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 72532592 72532924 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 72532592 72532924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 72542588 72939870 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ZFHX3 chr16 72626662 72671701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 72643741 72646152 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 72671778 72671871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 72702263 72702363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 72715834 72715934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 672781 1038212 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100288069,LOC643837,NOC2L,PLEKHN1,RNF223,SAMD11 chr1 672781 852347 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM41C,LINC00115,LOC100288069,LOC643837 chr1 67280352 67280482 Gain and loss Pancreatic cancer SNP array 17952125 WDR78 chr16 72812396 72812815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 72814032 72849337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZFHX3 chr16 7282778 34307201 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABAT,ABCC1,ABCC6,ABCC6P1,ABCC6P2,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,AHSP,ALDOA,ANKS4B,APOBR,AQP8,ARHGAP17,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATP2A1,ATXN2L,BCAR4,BCKDK,BCL7C,BFAR,BOLA2,BOLA2B,C16orf45,C16orf52,C16orf53,C16orf54,C16orf58,C16orf62,C16orf72,C16orf82,C16orf88,C16orf92,C16orf93,CACNG3,CARHSP1,CCDC101,CCP110,CD19,CD2BP2,CDIPT,CDR2,CHP2,CIITA,CLEC16A,CLEC19A,CLN3,COG7,COQ7,CORO1A,COX6A2,CPPED1,CRYM,CRYM-AS1,CSDAP1,CTF1,DCTN5,DCTPP1,DCUN1D3,DEXI,DNAH3,DOC2A,EARS2,EEF2K,EIF3C,EIF3CL,EMP2,ERCC4,ERI2,ERN2,FAM18A,FAM57B,FBRS,FBXL19,FBXL19-AS1,FLJ21408,FOPNL,FUS,GDE1,GDPD3,GGA2,GP2,GPR139,GPRC5B,GRIN2A,GSG1L,GSPT1,GTF3C1,HERC2P4,HIRIP3,HS3ST2,HS3ST4,HSD3B7,IGSF6,IL21R,IL21R-AS1,IL27,IL4R,INO80E,IQCK,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,KAT8,KCTD13,KDM8,KIAA0430,KIAA0556,KIAA0664L3,KIF22,LAT,LCMT1,LINC00273,LITAF,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100506655,LOC100862671,LOC388242,LOC390705,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC653786,LOC729264,LOC730183,LOC81691,LYRM1,MAPK3,MAZ,METTL22,METTL9,MIR193B,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR365A,MIR4517,MIR4518,MIR4519,MIR4718,MIR4721,MIR484,MIR548AA2,MIR548D2,MIR548X,MIR762,MKL2,MPV17L,MVP,MYH11,MYLPF,NDE1,NDUFAB1,NFATC2IP,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NSMCE1,NTAN1,NUBP1,NUPR1,ORAI3,OTOA,PALB2,PARN,PDILT,PDXDC1,PDZD9,PHKG2,PKD1P1,PLA2G10,PLK1,PMM2,POLR3E,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRR14,PRRT2,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,QPRT,RABEP2,RBBP6,RBFOX1,RMI2,RNF40,RNU6-76,RPS15A,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,SBK1,SCNN1B,SCNN1G,SEPHS2,SEPT1,SETD1A,SEZ6L2,SH2B1,SHISA9,SLC5A11,SLC5A2,SLC6A10P,SLC7A5P1,SLC7A5P2,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1,SMG1P1,SNN,SNORA30,SNX29,SNX29P1,SNX29P2,SOCS1,SPN,SPNS1,SRCAP,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYT17,TAOK2,TBC1D10B,TBX6,TEKT5,TGFB1I1,THUMPD1,TMC5,TMC7,TMEM114,TMEM159,TMEM186,TMEM219,TNFRSF17,TNP2,TNRC6A,TP53TG3,TP53TG3B,TP53TG3C,TRIM72,TUFM,TXNDC11,UBFD1,UMOD,UQCRC2,USP31,USP7,VKORC1,VWA3A,XPO6,XYLT1,YPEL3,ZC3H7A,ZG16,ZKSCAN2,ZNF267,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF843,ZP2 chr16 72829055 72874014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZFHX3 chr16 72846917 72847246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFHX3 chr16 72849308 72849341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFHX3 chr16 72856149 72856233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFHX3 chr16 72859686 72917454 Deletion Autism Array CGH 22102821 ZFHX3 chr16 72888181 72897687 Gain or loss Breast cancer - 20668451 ZFHX3 chr16 72888181 72897687 Gain or loss Cancer - 20668451 ZFHX3 chr16 72888181 72897687 Gain or loss Lung cancer - 20668451 ZFHX3 chr16 72888181 72897687 Gain or loss Ovarian cancer - 20668451 ZFHX3 chr16 72888181 72897687 Gain or loss Pancreas cancer - 20668451 ZFHX3 chr16 72888181 72897687 Gain or loss Prostate cancer - 20668451 ZFHX3 chr16 72888182 72897685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 72888182 72897685 Gain and loss Pancreatic cancer SNP array 17952125 ZFHX3 chr16 72888182 72897685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 72892281 73055707 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZFHX3 chr16 72892281 73055707 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZFHX3 chr16 72892281 73144686 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HTA,ZFHX3 chr16 72900000 74100000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 HTA,LOC100506172,ZFHX3 chr16 72917033 72917133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFHX3 chr16 72917878 73022634 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZFHX3 chr16 72917878 73022634 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 ZFHX3 chr16 72923807 72959560 Gain and loss Pancreatic cancer SNP array 17952125 ZFHX3 chr16 72931572 73012790 Gain Normal 244K array 17666407 ZFHX3 chr16 72937474 72953794 Gain Normal Birdsuite, version 1.5.2 22087296 ZFHX3 chr16 72941770 72959560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 72953795 72954559 Gain Normal Birdsuite, version 1.5.2 22087296 ZFHX3 chr16 72953795 73009537 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZFHX3 chr16 72954559 73009537 Gain Normal Birdsuite, version 1.5.2 22087296 ZFHX3 chr16 72969373 72983176 Gain and loss Pancreatic cancer SNP array 17952125 ZFHX3 chr16 72969373 72983514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 72969373 72983514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 72975732 72975832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFHX3 chr16 72999565 73002277 Gain and loss Pancreatic cancer SNP array 17952125 ZFHX3 chr16 73000032 73012944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 73000032 73012944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 73007292 73007352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFHX3 chr16 73009537 73014102 Gain Normal Birdsuite, version 1.5.2 22087296 ZFHX3 chr16 73011913 73025975 Gain and loss Pancreatic cancer SNP array 17952125 ZFHX3 chr16 73026171 73026241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFHX3 chr16 73043357 73198518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HTA,ZFHX3 chr16 73043357 73198518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTA,ZFHX3 chr16 73044217 73198514 Gain and loss Pancreatic cancer SNP array 17952125 HTA,ZFHX3 chr16 73047918 73048010 Gain and loss Pancreatic cancer SNP array 17952125 ZFHX3 chr16 73047918 73048010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 73055287 73055387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFHX3 chr16 73055289 73055387 Gain and loss Pancreatic cancer SNP array 17952125 ZFHX3 chr16 7306161 7306261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 73075064 73075316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFHX3 chr16 73075299 73075509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFHX3 chr16 73128535 73148905 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr16 73143239 73150640 Gain Normal 244K array 17666407 NOT_FOUND chr16 73150976 73151056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 73177451 73177551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 73192416 73192506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 73203494 73204620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73203992 73204279 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73212797 73258280 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 73212797 73258280 Gain or loss Cancer - 20668451 NOT_FOUND chr16 73212797 73258280 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 73212797 73258280 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 73212797 73258280 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 73212797 73258280 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 73212798 73258280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73212798 73258280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73214311 73258229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 7322750 7703341 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX1 chr16 7322752 7702500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RBFOX1 chr16 7322752 7702500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX1 chr16 7322752 7702500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX1 chr16 73263256 73287156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73263262 73292290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73263262 73292290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73291939 73292034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 73300000 73570000 Loss Acute lymphoblastic leukemia - 21339820 LOC100506172 chr16 73300000 78200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS18,ADAT1,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,CTRB1,CTRB2,FA2H,GABARAPL2,GLG1,KARS,LDHD,LOC100506172,LOC283922,MIR4719,MLKL,MON1B,NUDT7,PSMD7,RFWD3,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 73300000 78200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS18,ADAT1,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,CTRB1,CTRB2,FA2H,GABARAPL2,GLG1,KARS,LDHD,LOC100506172,LOC283922,MIR4719,MLKL,MON1B,NUDT7,PSMD7,RFWD3,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 73300000 78200000 Duplication Poland's syndrome Agilent Human Genome CGH Microarray Kit46B 22110015 ADAMTS18,ADAT1,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,CTRB1,CTRB2,FA2H,GABARAPL2,GLG1,KARS,LDHD,LOC100506172,LOC283922,MIR4719,MLKL,MON1B,NUDT7,PSMD7,RFWD3,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 73300000 78200000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 ADAMTS18,ADAT1,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,CTRB1,CTRB2,FA2H,GABARAPL2,GLG1,KARS,LDHD,LOC100506172,LOC283922,MIR4719,MLKL,MON1B,NUDT7,PSMD7,RFWD3,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 73300000 78200000 Gain Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 132 samples 21899760 ADAMTS18,ADAT1,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,CTRB1,CTRB2,FA2H,GABARAPL2,GLG1,KARS,LDHD,LOC100506172,LOC283922,MIR4719,MLKL,MON1B,NUDT7,PSMD7,RFWD3,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 73300000 82700000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 ADAMTS18,ADAT1,ATMIN,BCAR1,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,CTRB1,CTRB2,DYNLRB2,FA2H,GABARAPL2,GAN,GCSH,GLG1,HSD17B2,KARS,LDHD,LOC100129617,LOC100506172,LOC283922,MAF,MIR4719,MIR4720,MLKL,MON1B,MPHOSPH6,NUDT7,PKD1L2,PLCG2,PSMD7,RFWD3,SDR42E1,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 73300000 82700000 Loss Cancer array-based techniques 21183584 ADAMTS18,ADAT1,ATMIN,BCAR1,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,CTRB1,CTRB2,DYNLRB2,FA2H,GABARAPL2,GAN,GCSH,GLG1,HSD17B2,KARS,LDHD,LOC100129617,LOC100506172,LOC283922,MAF,MIR4719,MIR4720,MLKL,MON1B,MPHOSPH6,NUDT7,PKD1L2,PLCG2,PSMD7,RFWD3,SDR42E1,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 73300000 82700000 Loss Ovarian cancer Affymetrix 20844748 ADAMTS18,ADAT1,ATMIN,BCAR1,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,CTRB1,CTRB2,DYNLRB2,FA2H,GABARAPL2,GAN,GCSH,GLG1,HSD17B2,KARS,LDHD,LOC100129617,LOC100506172,LOC283922,MAF,MIR4719,MIR4720,MLKL,MON1B,MPHOSPH6,NUDT7,PKD1L2,PLCG2,PSMD7,RFWD3,SDR42E1,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 73300000 88827254 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ADAD2,ADAMTS18,ADAT1,ATMIN,ATP2C2,BANP,BCAR1,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CDH13,CDYL2,CENPN,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,COTL1,COX4I1,CRISPLD2,CTRB1,CTRB2,CTU2,CYBA,DNAAF1,DYNLRB2,EMC8,FA2H,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GABARAPL2,GAN,GCSH,GINS2,GLG1,HSBP1,HSD17B2,HSDL1,IL17C,IRF8,JPH3,KARS,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LDHD,LINC00311,LOC100129617,LOC100506172,LOC146513,LOC283922,LOC400548,LOC732275,MAF,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MVD,NECAB2,NUDT7,OSGIN1,PIEZO1,PKD1L2,PLCG2,PSMD7,RFWD3,RNF166,SDR42E1,SLC38A8,SLC7A5,SNAI3,SYCE1L,TAF1C,TERF2IP,TMEM170A,TMEM231,USP10,VAT1L,WDR59,WFDC1,WWOX,ZC3H18,ZCCHC14,ZDHHC7,ZFP1,ZFPM1,ZNF469,ZNRF1 chr16 73304359 73366224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73304359 73366224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73304359 73366224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 67330447 67366808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR78 chr1 67330447 67366808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR78 chr16 73304501 73345000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 73317076 73318076 Gain Chordoma References 21215367 NOT_FOUND chr16 73322157 73322231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 7334099 7378423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBFOX1 chr16 73347968 73348068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 73367280 73367341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 73367823 73367871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67340919 67341049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR78 chr1 67344190 67437669 Gain and loss Pancreatic cancer SNP array 17952125 MIER1,WDR78 chr16 7345142 7345242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 73464975 73576482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73464975 73576518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73464975 73576518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73517479 73517511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67351961 67352061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR78 chr16 73590415 73702393 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 73590415 73702393 Gain or loss Cancer - 20668451 NOT_FOUND chr16 73590415 73702393 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 73590415 73702393 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 73590415 73702393 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 73590415 73702393 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 73590416 73702393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73590416 73702393 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73590416 73702393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73631704 73631804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 73637683 73649628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73647036 73658919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 73700501 73707000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 73703260 73708166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73703260 73708166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73703260 73708170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73707001 73814000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 73720641 74613616 LOH Normal High-resolution SNP genotyping 21211785 CLEC18B,GLG1,LOC283922,PSMD7 chr1 67373848 67373944 Gain and loss Pancreatic cancer SNP array 17952125 WDR78 chr16 73739922 73763630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73739922 73763630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73758253 73763480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73763893 73795604 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 73763893 73809807 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 7377194 7377294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 73777344 73838459 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 73778391 73854498 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr16 73783865 73784646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73783874 73784646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73795496 73798573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73795496 73798573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73795499 73798560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73810372 73816316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73810372 73816316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73810399 73816322 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 7381289 7381389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 73814001 73860000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 73820428 73859452 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 73820428 73859452 Gain or loss Cancer - 20668451 NOT_FOUND chr16 73820428 73859452 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 73820428 73859452 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 73820428 73859452 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 73820428 73859452 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 73820429 73859452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73820429 73859452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73820430 73843004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73826788 73826865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 738397 745061 Gain and loss Pancreatic cancer SNP array 17952125 FBXL16,WDR24 chr16 73869706 88827254 Copy number Lung cancer paired-end sequencing 18438408 ADAD2,ADAMTS18,ADAT1,ATMIN,ATP2C2,BANP,BCAR1,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CDH13,CDYL2,CENPN,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,COTL1,COX4I1,CRISPLD2,CTRB1,CTRB2,CTU2,CYBA,DNAAF1,DYNLRB2,EMC8,FA2H,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GABARAPL2,GAN,GCSH,GINS2,GLG1,HSBP1,HSD17B2,HSDL1,IL17C,IRF8,JPH3,KARS,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LDHD,LINC00311,LOC100129617,LOC146513,LOC283922,LOC400548,LOC732275,MAF,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MVD,NECAB2,NUDT7,OSGIN1,PIEZO1,PKD1L2,PLCG2,PSMD7,RFWD3,RNF166,SDR42E1,SLC38A8,SLC7A5,SNAI3,SYCE1L,TAF1C,TERF2IP,TMEM170A,TMEM231,USP10,VAT1L,WDR59,WFDC1,WWOX,ZC3H18,ZCCHC14,ZDHHC7,ZFP1,ZFPM1,ZNF469,ZNRF1 chr16 73881406 73881506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 73885109 74024888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73885109 74024888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 73885109 74024888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 73893611 73893711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 73902081 73936793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 73955342 73984627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 73977115 74134472 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 7398132 7610763 Loss Urothelial carcinoma array CGH validated by FISH 21177765 RBFOX1 chr16 73985401 73990000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 74023266 74028956 Loss Normal 244K array 17666407 NOT_FOUND chr16 74034645 74056088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74038426 74056085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74038426 74056085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 67404757 67498236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIER1,SLC35D1 chr1 67404757 67498236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIER1,SLC35D1 chr16 74064523 74086783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74064523 74086783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74064528 74086427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74096909 74111535 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 74100000 79200000 Copy number Prostate cancer 250K Sty SNP Array 19156837 ADAMTS18,ADAT1,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,CTRB1,CTRB2,FA2H,GABARAPL2,GLG1,KARS,LDHD,LOC283922,MIR4719,MLKL,MON1B,NUDT7,PSMD7,RFWD3,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 74100000 79200000 Deletion Acute myeloid leukemia Human Genome CGH 44k microarrays 17377590 ADAMTS18,ADAT1,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,CTRB1,CTRB2,FA2H,GABARAPL2,GLG1,KARS,LDHD,LOC283922,MIR4719,MLKL,MON1B,NUDT7,PSMD7,RFWD3,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 74100000 79200000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADAMTS18,ADAT1,BCAR1,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CNTNAP4,CTRB1,CTRB2,FA2H,GABARAPL2,GLG1,KARS,LDHD,LOC283922,MIR4719,MLKL,MON1B,NUDT7,PSMD7,RFWD3,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 74100000 84200000 Deletion Hepatocellular carcinoma Array CGH 16750200 ADAMTS18,ADAT1,ATMIN,BCAR1,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CFDP1,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,CTRB1,CTRB2,DNAAF1,DYNLRB2,FA2H,GABARAPL2,GAN,GCSH,GLG1,HSBP1,HSD17B2,HSDL1,KARS,LDHD,LOC100129617,LOC283922,MAF,MBTPS1,MIR3182,MIR4719,MIR4720,MLKL,MLYCD,MON1B,MPHOSPH6,NECAB2,NUDT7,OSGIN1,PKD1L2,PLCG2,PSMD7,RFWD3,SDR42E1,SLC38A8,SYCE1L,TERF2IP,TMEM170A,TMEM231,VAT1L,WDR59,WWOX,ZFP1,ZNRF1 chr16 74100000 90354753 Loss Prostate cancer Array CGH 16573809 ACSF3,ADAD2,ADAMTS18,ADAT1,AFG3L1P,ANKRD11,APRT,ATMIN,ATP2C2,BANP,BCAR1,BCMO1,C16orf3,C16orf46,C16orf55,C16orf7,C16orf74,C16orf95,CA5A,CBFA2T3,CDH13,CDH15,CDK10,CDT1,CDYL2,CENPBD1,CENPN,CFDP1,CHMP1A,CHST5,CHST6,CLEC18B,CLEC3A,CMC2,CMIP,CNTNAP4,COTL1,COX4I1,CPNE7,CRISPLD2,CTRB1,CTRB2,CTU2,CYBA,DBNDD1,DEF8,DNAAF1,DPEP1,DYNLRB2,EMC8,FA2H,FAM92B,FANCA,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GABARAPL2,GALNS,GAN,GAS8,GCSH,GINS2,GLG1,HSBP1,HSD17B2,HSDL1,IL17C,IRF8,JPH3,KARS,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LDHD,LINC00304,LINC00311,LOC100128881,LOC100129617,LOC100130015,LOC100287036,LOC146513,LOC283922,LOC400548,LOC400558,LOC732275,MAF,MAP1LC3B,MBTPS1,MC1R,MGC23284,MIR1910,MIR3182,MIR4719,MIR4720,MIR4722,MIR5093,MIR5189,MLKL,MLYCD,MON1B,MPHOSPH6,MTHFSD,MVD,NECAB2,NUDT7,OSGIN1,PABPN1L,PIEZO1,PKD1L2,PLCG2,PRDM7,PSMD7,RFWD3,RNF166,RPL13,SDR42E1,SLC22A31,SLC38A8,SLC7A5,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,SYCE1L,TAF1C,TCF25,TERF2IP,TMEM170A,TMEM231,TRAPPC2L,TUBB3,USP10,VAT1L,WDR59,WFDC1,WWOX,ZC3H18,ZCCHC14,ZDHHC7,ZFP1,ZFPM1,ZNF276,ZNF469,ZNF778,ZNRF1 chr16 741089 774289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC78,FAM173A,FBXL16,METRN chr16 74111535 74115583 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 74115584 74133500 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 74119931 74126569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74119931 74126569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74119931 74147667 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 67412310 67457358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIER1 chr16 74131393 74147671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74131393 74147671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74157750 74169279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74157750 74169279 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74157750 74169279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74188263 74188363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 74190499 74214655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74190499 74214655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74190499 74214655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74201543 74201643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 742125 759289 Gain and loss Pancreatic cancer SNP array 17952125 FBXL16 chr16 74219123 74239078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74219123 74239078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74219131 74239078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74226420 74226559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 74239144 74248830 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74239184 74248829 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr16 74239185 74248829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74239185 74248829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74243715 74276942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 742499 743126 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 FBXL16 chr16 74273 128859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPG,POLR3K,RHBDF1,SNRNP25 chr16 74273 128859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPG,POLR3K,RHBDF1,SNRNP25 chr16 74285829 74291521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74287357 74291545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74289931 74290225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74289931 74290225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74300455 74301214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74300455 74301214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74332943 74333043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PSMD7 chr1 67434415 67434511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIER1 chr16 74356701 74862700 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC18B,FA2H,GLG1,LOC283922,MLKL,RFWD3 chr16 74452445 74452556 Gain and loss Pancreatic cancer SNP array 17952125 CLEC18B chr16 74452447 74452556 Gain and loss Pancreatic cancer SNP array 17952125 CLEC18B chr16 74452447 74452556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC18B chr1 67445303 67445431 Gain and loss Pancreatic cancer SNP array 17952125 MIER1 chr16 74490000 75270000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 BCAR1,CTRB1,CTRB2,FA2H,GLG1,LDHD,MLKL,RFWD3,WDR59,ZFP1,ZNRF1 chr16 74523494 74523594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLG1 chr1 67452671 99313693 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCA4,ABCD3,ACADM,AK5,ALG14,ANKRD13C,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf141,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DEPDC1,DIRAS3,DNAJB4,DNASE2B,DNTTIP2,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FUBP1,GADD45A,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG12,GNG12-AS1,GNG5,GTF2B,HFM1,HHLA3,HS2ST1,HSP90B3P,IFI44,IFI44L,IL12RB2,IL23R,KIAA1107,LHX8,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIER1,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR4423,MIR548AP,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,ODF2L,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RBMXL1,RPAP2,RPE65,RPF1,RPL5,RWDD3,SAMD13,SEP15,SERBP1,SH3GLB1,SLC35D1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,WLS,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr16 74542425 75084384 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FA2H,GLG1,MLKL,RFWD3,WDR59,ZNRF1 chr16 74565193 74568678 Loss Normal Birdsuite, version 1.5.2 22087296 GLG1 chr16 74568678 74577519 Loss Normal Birdsuite, version 1.5.2 22087296 GLG1 chr16 74576356 74614035 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GLG1 chr16 74577519 74578285 Loss Normal Birdsuite, version 1.5.2 22087296 GLG1 chr16 74578285 74578672 Loss Normal Birdsuite, version 1.5.2 22087296 GLG1 chr16 74589698 74622140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLG1 chr16 74591416 74615316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLG1 chr16 74607116 74615464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLG1 chr16 74612365 74641087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLG1 chr16 74655278 74655349 Gain and loss Pancreatic cancer SNP array 17952125 RFWD3 chr16 74658028 74658099 Gain and loss Pancreatic cancer SNP array 17952125 RFWD3 chr1 67465825 67465925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35D1 chr16 74669370 74669453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RFWD3 chr16 74719491 75631878 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCAR1,CFDP1,CHST5,CHST6,CTRB1,CTRB2,FA2H,GABARAPL2,LDHD,MLKL,TMEM170A,TMEM231,WDR59,ZFP1,ZNRF1 chr16 74726150 74726254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MLKL chr16 74750331 74750431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FA2H chr1 67477711 67477798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35D1 chr16 74808505 75067064 Loss Autism Exome sequencing and CGH 22495309 FA2H,WDR59,ZNRF1 chr16 74826481 74827022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74826481 74827022 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74826481 74827022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74833161 74833261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67485068 67574604 Gain and loss Pancreatic cancer SNP array 17952125 C1orf141,SLC35D1 chr16 74852414 74852533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 74862701 74989200 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDR59 chr16 74868677 75150461 Gain and loss Pancreatic cancer SNP array 17952125 LDHD,WDR59,ZNRF1 chr16 74868677 75150636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDHD,WDR59,ZNRF1 chr16 74868677 75150636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDHD,WDR59,ZNRF1 chr16 74879028 74879142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 74879028 74879142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 74989201 75596400 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAR1,CFDP1,CHST5,CHST6,CTRB1,CTRB2,LDHD,TMEM170A,TMEM231,WDR59,ZFP1,ZNRF1 chr16 74989337 74989388 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDR59 chr16 74997300 75007489 Loss Autism qPCR, Illumina1M 20531469 WDR59 chr16 750001 757000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBXL16 chr1 67505870 67505998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35D1 chr16 75076716 75104967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNRF1 chr16 750768 758866 Gain and loss Pancreatic cancer SNP array 17952125 FBXL16 chr16 75079920 75217831 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LDHD,ZFP1,ZNRF1 chr16 75080063 75080163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNRF1 chr16 75085938 75120613 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNRF1 chr16 75094822 75106827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNRF1 chr16 75095001 75103400 Deletion Glioma mate-paired sequence 20126413 ZNRF1 chr16 75095303 75102302 Deletion Normal TaqMan assays 20972442 ZNRF1 chr16 75095688 75101449 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 ZNRF1 chr16 75095688 75101449 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNRF1 chr16 75096634 75101530 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNRF1 chr16 75096635 75101525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNRF1 chr16 75156422 75159065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 67516323 67517050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35D1 chr16 75164434 76348792 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAT1,BCAR1,CFDP1,CHST5,CHST6,CNTNAP4,CTRB1,CTRB2,GABARAPL2,KARS,TERF2IP,TMEM170A,TMEM231,ZFP1 chr16 75166320 75276261 Gain Stenocardia MACArray Karyo 78K BAC-chips 21860640 BCAR1,CTRB1,CTRB2,ZFP1 chr16 75166320 75276261 Gain Vasospasm MACArray Karyo 78K BAC-chips 21860640 BCAR1,CTRB1,CTRB2,ZFP1 chr16 75219002 75228579 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 75224186 75226991 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 75240743 75240806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTRB2 chr16 752638 758866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL16 chr16 752638 758866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL16 chr1 67526598 67526698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 75273876 75276547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCAR1 chr16 75341285 75631878 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CFDP1,CHST5,CHST6,GABARAPL2,TMEM170A,TMEM231 chr16 75353647 75353747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CFDP1 chr16 75354484 75354577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CFDP1 chr16 75356366 75616061 Copy number Normal Quantitative Real-Time PCR 17666543 CFDP1,CHST5,CHST6,GABARAPL2,TMEM170A,TMEM231 chr16 75414341 75426945 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CFDP1 chr16 75422389 75457204 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CFDP1 chr16 75422623 75457204 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CFDP1 chr16 75446891 75446991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CFDP1 chr1 67545635 67635171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf141,IL23R chr1 67545635 67635171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf141,IL23R chr16 75458565 75489855 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CFDP1,TMEM170A chr16 75500301 75644624 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ADAT1,CHST5,CHST6,GABARAPL2,TMEM231 chr16 75514597 76024276 LOH Normal High-resolution SNP genotyping 21211785 ADAT1,CHST5,CHST6,GABARAPL2,KARS,TERF2IP,TMEM231 chr16 75535759 75535859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 75555813 75582197 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 CHST5,TMEM231 chr16 75563743 82429929 Loss Prostate cancer Array CGH 18632612 ADAMTS18,ADAT1,ATMIN,BCMO1,C16orf46,CDYL2,CENPN,CHST5,CLEC3A,CMC2,CMIP,CNTNAP4,DYNLRB2,GABARAPL2,GAN,GCSH,HSD17B2,KARS,LOC100129617,MAF,MIR4719,MIR4720,MON1B,MPHOSPH6,NUDT7,PKD1L2,PLCG2,SDR42E1,SYCE1L,TERF2IP,TMEM231,VAT1L,WWOX chr16 7557105 7557428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX1 chr16 75582042 77371955 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS18,ADAT1,CNTNAP4,GABARAPL2,KARS,MIR4719,MON1B,SYCE1L,TERF2IP,TMEM231 chr16 75596401 76026500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAT1,GABARAPL2,KARS,TERF2IP chr16 75648139 75650360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADAT1 chr16 75648139 75650361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADAT1 chr16 757001 769500 Copy number Normal ReadDepth: A Parallel R Package 21305028 METRN chr16 75718203 75718287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67572185 67606050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf141 chr16 75758984 75758986 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 75758986 75763797 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 75763797 75780367 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 757655 758175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 75780367 75780371 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 75781501 75787500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 75782337 75791042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 75782337 75791042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 75782337 75791042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 75797772 75804400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 75800 1753000 Gain Prostate cancer Array CGH 18632612 ARHGDIG,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf91,C1QTNF8,CACNA1H,CCDC154,CCDC78,CHTF18,CLCN7,CRAMP1L,DECR2,FAM173A,FAM195A,FBXL16,GNG13,GNPTG,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HN1L,IFT140,ITFG3,JMJD8,LINC00235,LMF1,LOC100134368,LUC7L,METRN,MIR3176,MIR5587,MIR662,MPG,MRPL28,MSLN,NARFL,NHLRC4,NME4,NPRL3,PDIA2,PIGQ,POLR3K,PRR25,PTX4,RAB11FIP3,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RPUSD1,SNRNP25,SOLH,SOX8,SSTR5,SSTR5-AS1,STUB1,TELO2,TMEM204,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1 chr16 75810000 87470000 Loss Breast cancer aCGH 21509527 ADAD2,ADAMTS18,ATMIN,ATP2C2,BCMO1,C16orf46,C16orf74,C16orf95,CDH13,CDYL2,CENPN,CLEC3A,CMC2,CMIP,CNTNAP4,COTL1,COX4I1,CRISPLD2,DNAAF1,DYNLRB2,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GAN,GCSH,GINS2,HSBP1,HSD17B2,HSDL1,IRF8,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC100129617,LOC146513,LOC400548,LOC732275,MAF,MAP1LC3B,MBTPS1,MIR1910,MIR3182,MIR4719,MIR4720,MIR5093,MLYCD,MON1B,MPHOSPH6,MTHFSD,NECAB2,NUDT7,OSGIN1,PKD1L2,PLCG2,SDR42E1,SLC38A8,SYCE1L,TAF1C,USP10,VAT1L,WFDC1,WWOX,ZCCHC14,ZDHHC7 chr16 75833306 75866072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 75836 3158832 Gain Prostate cancer Array CGH 18632612 ABCA17P,ABCA3,AMDHD2,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf59,C16orf79,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CRAMP1L,DECR2,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM173A,FAM195A,FBXL16,FLJ42627,FLYWCH1,FLYWCH2,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HN1L,HS3ST6,IFT140,IGFALS,IL32,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC652276,LUC7L,MAPK8IP3,MEIOB,METRN,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,THOC6,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZG16B,ZNF598,ZSCAN10 chr16 75870316 76483506 LOH Normal High-resolution SNP genotyping 21211785 CNTNAP4 chr16 75873525 76026512 Copy number Lung cancer - 20668451 NOT_FOUND chr16 75873525 76026512 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 75873525 76026512 Gain or loss Cancer - 20668451 NOT_FOUND chr16 75873525 76026512 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 75873525 76026512 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 75873525 76026512 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 75873525 76026512 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 75873527 76026512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 75873527 76026512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 75873929 76026512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 67588742 67608119 Gain and loss Pancreatic cancer SNP array 17952125 C1orf141 chr16 75899063 76268665 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr16 75923713 75929604 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 759429 772927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC78,FAM173A,METRN chr16 759429 772927 Gain and loss Pancreatic cancer SNP array 17952125 CCDC78,FAM173A,METRN chr16 759429 772927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC78,FAM173A,METRN chr1 67594918 67595021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 67594918 67595022 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 75969413 75980097 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 75982928 75983028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76011878 76174547 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 760184 760278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 76026501 80023900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTS18,CLEC3A,CNTNAP4,MAF,MIR4719,MON1B,NUDT7,SYCE1L,VAT1L,WWOX chr16 76027408 76027500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 76096005 76096105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76113788 76115434 Loss Normal 244K array 17666407 NOT_FOUND chr16 76137876 76137965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67615660 67627885 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 76169519 76169619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76188266 76412349 Gain Normal Birdsuite, version 1.5.2 22087296 CNTNAP4 chr16 76188666 76188766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76256872 76256966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76301699 76301782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 76313912 76333652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTNAP4 chr16 76316827 76333315 Gain and loss Pancreatic cancer SNP array 17952125 CNTNAP4 chr16 76343287 76343387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP4 chr16 76357963 76398531 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CNTNAP4 chr16 76379984 76571504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTNAP4 chr16 76379984 76571504 Gain and loss Pancreatic cancer SNP array 17952125 CNTNAP4 chr16 76379984 76571504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTNAP4 chr16 76386115 76386215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP4 chr16 76416881 76416981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP4 chr16 76435072 76637919 Gain Normal Birdsuite, version 1.5.2 22087296 CNTNAP4 chr16 76459911 76460011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP4 chr1 67646081 67668711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL23R chr1 67646081 67668711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL23R chr16 76475637 76475737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP4 chr16 76531376 76562452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTNAP4 chr1 67655485 67655589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL23R chr16 76574865 76574961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP4 chr16 76596028 76598690 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 76613944 76623495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 76613944 76623495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 76613992 76623495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 76613997 76614067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76622889 76622982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76625758 76625904 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 76637861 76695591 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 76640025 76641295 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 76642623 77066948 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 MIR4719 chr16 76645062 76929941 Gain Normal Birdsuite, version 1.5.2 22087296 MIR4719 chr16 76645062 77052862 Copy number Normal Birdsuite, version 1.5.2 22087296 MIR4719 chr16 76655858 76655912 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr16 76662867 76675377 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr1 67667501 67669500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IL23R chr16 76685816 78205652 Deletion Cancer Affymetrix 250K Sty array 20164920 ADAMTS18,CLEC3A,MIR4719,MON1B,NUDT7,SYCE1L,VAT1L,WWOX chr16 76691052 77803532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS18,MIR4719,MON1B,NUDT7,SYCE1L chr16 76691052 77803532 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS18,MIR4719,MON1B,NUDT7,SYCE1L chr16 76691052 77803532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS18,MIR4719,MON1B,NUDT7,SYCE1L chr16 76706245 77427046 Copy number Cancer CGH 20581869 ADAMTS18,MIR4719,MON1B,SYCE1L chr16 76729164 76729811 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 76729167 76729843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 76741114 76767164 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 6767971 7752350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1 chr1 6767971 7752350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1 chr1 6767971 7752351 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CAMTA1 chr16 76799976 77363956 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAMTS18,MIR4719,MON1B,SYCE1L chr16 76801362 88566434 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAD2,ADAMTS18,ATMIN,ATP2C2,BANP,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CDH13,CDYL2,CENPN,CLEC3A,CMC2,CMIP,COTL1,COX4I1,CRISPLD2,DNAAF1,DYNLRB2,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GAN,GCSH,GINS2,HSBP1,HSD17B2,HSDL1,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC100129617,LOC146513,LOC400548,LOC732275,MAF,MAP1LC3B,MBTPS1,MIR1910,MIR3182,MIR4719,MIR4720,MIR5093,MIR5189,MLYCD,MON1B,MPHOSPH6,MTHFSD,NECAB2,NUDT7,OSGIN1,PKD1L2,PLCG2,SDR42E1,SLC38A8,SLC7A5,SYCE1L,TAF1C,USP10,VAT1L,WFDC1,WWOX,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 76811430 76929139 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR4719 chr16 76820125 76820225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76820541 77766362 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADAMTS18,MIR4719,MON1B,NUDT7,SYCE1L chr16 76848674 77895810 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS18,MIR4719,MON1B,NUDT7,SYCE1L,VAT1L chr16 76858886 76923660 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR4719 chr16 76861743 76861843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 76865792 76865966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 7688078 7688207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX1 chr16 76909336 76942266 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 76909405 76942239 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 76912726 76912796 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 76916517 76969258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 76920825 76959358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 76927301 76944400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr16 76927449 76942067 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 76928217 76961758 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 76928806 76943016 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 76928806 76943016 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 76929110 76942253 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr16 76929120 76942453 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 76929140 76942399 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 76929222 76941603 Loss or gain Normal 244K array 17666407 NOT_FOUND chr16 76929929 76942490 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 76929941 76938764 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 76929941 76940641 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 76929941 76942239 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 76929941 76942266 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 76929941 76942266 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 76930740 76943016 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 76930740 76943016 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 76931253 76942490 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 76933962 76943016 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 76933962 76943016 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 76935774 76943016 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 76935774 76943016 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 76942266 77052862 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 76950127 76950765 Loss Normal 244K array 17666407 NOT_FOUND chr16 769501 798000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC78,FAM173A,HAGHL,NARFL chr16 76952017 76952107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 76952904 77327922 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAMTS18,MON1B,SYCE1L chr16 76980411 77535716 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAMTS18,MON1B,SYCE1L chr16 76980689 77535677 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAMTS18,MON1B,SYCE1L chr16 76994109 77065566 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr16 77024470 77024570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 77026930 77058754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 67705726 67705826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL23R chr16 77059855 77088808 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 77062499 77252441 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 MON1B,SYCE1L chr16 77062499 77449191 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ADAMTS18,MON1B,SYCE1L chr16 77069332 77180848 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 77073173 77073273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 77073306 77177153 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 77105899 77109454 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr16 77108818 77124595 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr16 77129014 77163630 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 77132045 77149385 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 77132177 77149385 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 77138639 77159207 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr16 77143815 77144069 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 77149054 77440263 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAMTS18,MON1B,SYCE1L chr16 77159207 77323907 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ADAMTS18,MON1B,SYCE1L chr16 7716845 7716953 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX1 chr16 7716845 7716953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX1 chr1 67718831 67718937 Gain and loss Pancreatic cancer SNP array 17952125 IL23R chr16 77190685 77350206 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ADAMTS18,MON1B,SYCE1L chr16 77192694 77366625 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ADAMTS18,MON1B,SYCE1L chr16 77200307 77342789 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ADAMTS18,MON1B,SYCE1L chr16 77210876 77481326 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAMTS18,MON1B,SYCE1L chr16 77215302 77345302 Loss Barrett's syndrome BAC array 19417022 ADAMTS18,MON1B,SYCE1L chr16 77219165 77251379 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MON1B,SYCE1L chr16 77219165 77280601 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MON1B,SYCE1L chr16 77219165 77340451 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAMTS18,MON1B,SYCE1L chr16 77223246 77482459 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAMTS18,MON1B,SYCE1L chr16 77225392 77318865 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ADAMTS18,MON1B,SYCE1L chr16 77257347 77257436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 77269209 77293232 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 NOT_FOUND chr16 77314953 77315007 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 77341752 77435119 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ADAMTS18 chr16 77355337 77598385 Deletion Normal GISTIC2.0 21527027 ADAMTS18 chr16 7739957 7740957 Gain Osteosarcoma References 21215367 RBFOX1 chr16 77401601 77440900 Deletion Glioma mate-paired sequence 20126413 ADAMTS18 chr16 77434153 77435050 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADAMTS18 chr16 77434460 77435452 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ADAMTS18 chr16 77470019 77470054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67747281 67771053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 77497019 77634452 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr16 774974 778384 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CCDC78,HAGHL chr16 774976 778384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC78,HAGHL chr16 774976 778384 Gain and loss Pancreatic cancer SNP array 17952125 CCDC78,HAGHL chr16 774976 778384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC78,HAGHL chr16 77518608 77518708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67753363 67753553 Loss Normal 244K array 17666407 NOT_FOUND chr16 77612599 77612689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67761400 67761500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 77617288 77620500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 77626779 77672263 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 77648659 78063502 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLEC3A,NUDT7,VAT1L chr16 77648829 77649348 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr16 77659117 77672258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 77670758 77670898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 77703064 77703164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 77730543 78943100 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CLEC3A,NUDT7,VAT1L,WWOX chr16 777 54026 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 77787558 77787658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67778801 67783400 Deletion Glioma mate-paired sequence 20126413 IL12RB2 chr1 67779398 67779504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL12RB2 chr16 77797111 77797181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 778047 788073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAGHL,NARFL chr16 778047 788073 Gain and loss Pancreatic cancer SNP array 17952125 HAGHL,NARFL chr16 778047 788073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAGHL,NARFL chr1 67780547 67781404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IL12RB2 chr16 77818020 77839048 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 VAT1L chr1 67782435 67783243 Gain Normal 244K array 17666407 IL12RB2 chr1 67783126 67783430 Gain Normal 244K array 17666407 IL12RB2 chr16 77855852 77855943 Gain and loss Pancreatic cancer SNP array 17952125 VAT1L chr16 77855852 77855971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAT1L chr16 77855853 77855964 Gain and loss Pancreatic cancer SNP array 17952125 VAT1L chr16 77892204 77896128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VAT1L chr1 67790665 67791040 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 IL12RB2 chr16 77952367 77952450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAT1L chr16 7796067 7796167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6779674 7762169 Gain and loss Pancreatic cancer SNP array 17952125 CAMTA1 chr1 67799344 67799706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL12RB2 chr16 78017699 80883296 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CDYL2,CLEC3A,DYNLRB2,MAF,WWOX chr16 78027032 78027132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 78038478 78238868 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLEC3A,WWOX chr16 78060110 78067410 Loss Normal Birdsuite, version 1.5.2 22087296 CLEC3A chr16 78103085 78103185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 7810338 7810384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 78108228 78238868 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 WWOX chr16 78185729 78192112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WWOX chr16 78185729 78192112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWOX chr16 78185731 78192112 Gain or loss Breast cancer - 20668451 WWOX chr16 78185731 78192112 Gain or loss Cancer - 20668451 WWOX chr16 78185731 78192112 Gain or loss Lung cancer - 20668451 WWOX chr16 78185731 78192112 Gain or loss Ovarian cancer - 20668451 WWOX chr16 78185731 78192112 Gain or loss Pancreas cancer - 20668451 WWOX chr16 78185731 78192112 Gain or loss Prostate cancer - 20668451 WWOX chr16 78185736 78192112 Gain and loss Pancreatic cancer SNP array 17952125 WWOX chr16 78190173 78191193 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 WWOX chr16 78200000 80500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MAF,WWOX chr16 78200000 80500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MAF,WWOX chr16 78207508 78208207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WWOX chr16 78209079 78209143 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WWOX chr16 78259974 78260069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr16 78261053 78261135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWOX chr16 78297870 78297919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr16 78323313 78323413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr1 67834535 67834832 Gain and loss Pancreatic cancer SNP array 17952125 IL12RB2 chr16 78351287 78381989 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWOX chr1 67838037 67838722 Gain and loss Pancreatic cancer SNP array 17952125 IL12RB2 chr16 78404074 78432787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWOX chr1 67840639 67840739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL12RB2 chr16 78411354 78411386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr16 78451145 78454588 Gain Normal Birdsuite, version 1.5.2 22087296 WWOX chr16 78451145 78488148 Gain Normal Birdsuite, version 1.5.2 22087296 WWOX chr16 78454588 78484370 Gain Normal Birdsuite, version 1.5.2 22087296 WWOX chr16 78461530 79083971 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 WWOX chr16 78461530 79787842 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MAF,WWOX chr16 78484370 78488148 Gain Normal Birdsuite, version 1.5.2 22087296 WWOX chr16 78506182 79059414 LOH Normal High-resolution SNP genotyping 21211785 WWOX chr16 78593027 78593127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr16 78606216 79175098 LOH Normal High-resolution SNP genotyping 21211785 WWOX chr1 67861657 67875689 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL12RB2,SERBP1 chr16 7861872 7861972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67862904 67866040 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 78754402 78754503 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 WWOX chr16 78754402 78754503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WWOX chr16 78768757 78894217 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 WWOX chr1 67879241 68011129 Gain and loss Pancreatic cancer SNP array 17952125 SERBP1 chr16 788043 790700 Gain and loss Pancreatic cancer SNP array 17952125 NARFL chr16 788045 790734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NARFL chr16 788045 790734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NARFL chr16 78834001 78836000 Copy number Normal ReadDepth: A Parallel R Package 21305028 WWOX chr16 78840831 78874441 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWOX chr16 78882804 78891515 Loss Normal 244K array 17666407 WWOX chr16 7889341 7889434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 78943100 84385507 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAD2,ATMIN,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,DNAAF1,DYNLRB2,GAN,GCSH,HSBP1,HSD17B2,HSDL1,KCNG4,LOC100129617,MAF,MBTPS1,MIR3182,MIR4720,MLYCD,MPHOSPH6,NECAB2,OSGIN1,PKD1L2,PLCG2,SDR42E1,SLC38A8,TAF1C,WFDC1,WWOX chr16 78947813 78947899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WWOX chr1 67895102 67895399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERBP1 chr1 67895104 67895400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERBP1 chr16 78954311 78954411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr16 78982411 78982477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr1 67898425 67899286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 7900000 10500000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 ABAT,ATF7IP2,C16orf72,CARHSP1,GRIN2A,METTL22,MIR548X,PMM2,TMEM114,TMEM186,USP7 chr16 7900000 10500000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ABAT,ATF7IP2,C16orf72,CARHSP1,GRIN2A,METTL22,MIR548X,PMM2,TMEM114,TMEM186,USP7 chr16 7900000 10500000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABAT,ATF7IP2,C16orf72,CARHSP1,GRIN2A,METTL22,MIR548X,PMM2,TMEM114,TMEM186,USP7 chr16 7900000 14800000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ABAT,ATF7IP2,BCAR4,BFAR,C16orf72,CARHSP1,CIITA,CLEC16A,CPPED1,DEXI,EMP2,ERCC4,FAM18A,GRIN2A,GSPT1,LITAF,METTL22,MIR193B,MIR365A,MIR4718,MIR548X,MKL2,NUBP1,PARN,PLA2G10,PMM2,PRM1,PRM2,PRM3,RMI2,RSL1D1,SHISA9,SNN,SNX29,SOCS1,TEKT5,TMEM114,TMEM186,TNFRSF17,TNP2,TXNDC11,USP7,ZC3H7A chr16 79026132 79026444 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WWOX chr16 79047065 79060724 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 WWOX chr1 67906093 67906510 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NOT_FOUND chr16 7906912 7907912 Loss Osteosarcoma References 21215367 NOT_FOUND chr16 79112420 79112520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr16 79132355 79142040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WWOX chr16 79132355 79142040 Gain and loss Pancreatic cancer SNP array 17952125 WWOX chr16 79132355 79142040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWOX chr16 79189791 79787842 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MAF,WWOX chr16 79195176 79395676 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 WWOX chr16 79195176 79395680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WWOX chr16 79195176 79395680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWOX chr16 79195179 79395676 Gain and loss Pancreatic cancer SNP array 17952125 WWOX chr16 79195214 80590034 Amplification Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 DYNLRB2,MAF,WWOX chr16 79200000 81700000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ATMIN,BCMO1,C16orf46,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,LOC100129617,MAF,MIR4720,PKD1L2,WWOX chr16 79200000 81700000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ATMIN,BCMO1,C16orf46,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,LOC100129617,MAF,MIR4720,PKD1L2,WWOX chr16 79214909 79230205 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WWOX chr16 79224456 79743187 LOH Normal High-resolution SNP genotyping 21211785 MAF,WWOX chr1 67923368 67991732 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr1 67923471 67926607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 67923471 67926607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79244147 79244240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWOX chr1 67924654 67926040 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr16 79263630 79302872 Loss Normal 244K array 17666407 NOT_FOUND chr16 79267176 79267176 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 79288692 79288792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79348542 79348642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 7937924 7938024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67939737 68071730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 67939737 68071730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79407214 79407974 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr16 79433742 79433841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79469999 80189999 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 MAF chr16 79500157 79500251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 67950298 67950356 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 79531210 79531310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79534004 79540783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 79534184 79541402 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 79534184 79541402 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 79544036 83662252 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ATMIN,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,HSD17B2,LOC100129617,MAF,MIR3182,MIR4720,MPHOSPH6,PKD1L2,PLCG2,SDR42E1 chr16 795444 803862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 795444 803862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 795444 803862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79553046 80933065 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDYL2,DYNLRB2,MAF chr16 79557724 83956314 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATMIN,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,HSBP1,HSD17B2,LOC100129617,MAF,MIR3182,MIR4720,MLYCD,MPHOSPH6,PKD1L2,PLCG2,SDR42E1 chr16 79567206 79597997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79567206 79597997 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 79567206 79597997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79597604 79620428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 79597604 79624220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79597604 79624220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79601896 79652573 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MAF chr16 79618067 79662761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAF chr16 79626959 79638452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAF chr16 79626959 79638452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAF chr16 79627142 79636280 Copy number Autism Illumina Humanhap300 Beadchips 19492091 MAF chr16 79627142 79636280 Gain and loss Pancreatic cancer SNP array 17952125 MAF chr16 79644603 79668373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79644603 79668373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 7964889 8054474 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 79652093 79668305 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 7967033 7967133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79673430 79687481 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr16 79673430 79687481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79673430 79687481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 79673430 79687481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79676966 79677318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 79686501 79869500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 79691985 79811477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79691985 79811477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79691991 79811476 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 79731395 79731901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 79736150 79748195 Loss Autism Exome sequencing and CGH 22495309 NOT_FOUND chr16 79740936 84513465 Loss Autism 1M Ailent CGH whole-genome array 21865298 ADAD2,ATMIN,ATP2C2,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,DNAAF1,DYNLRB2,GAN,GCSH,HSBP1,HSD17B2,HSDL1,KCNG4,KIAA1609,LOC100129617,MBTPS1,MIR3182,MIR4720,MLYCD,MPHOSPH6,NECAB2,OSGIN1,PKD1L2,PLCG2,SDR42E1,SLC38A8,TAF1C,WFDC1 chr16 79743951 79744051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79759172 79861019 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr16 79778899 79778984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79785183 79804615 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 79791783 79791883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 798001 877000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHTF18,GNG13,MIR662,MSLN,PRR25,RPUSD1 chr16 79806159 79806259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79811016 79811115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79829797 79882248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79829797 79882248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 79829797 79882248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79845872 79845957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79852250 79852491 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 79895970 79896110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79906001 79907000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 79906076 79971441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79906076 79971441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 79906076 79971441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 79953788 79968731 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 79969890 79969985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79981556 79981656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 79985501 80507000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 80010478 80010577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80023901 80555200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 80036395 80302866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 80036395 80302866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 80036396 80300905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 80039505 80039605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80055360 80055533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 8006610 8006934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 8006623 8006948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 80067129 80067625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 80067129 80067646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 80077408 80077493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80081035 80724598 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CDYL2,DYNLRB2 chr16 80096155 80096255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80107950 80108042 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 80136934 83164493 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATMIN,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,HSD17B2,LOC100129617,MIR4720,MPHOSPH6,PKD1L2,PLCG2,SDR42E1 chr16 80139138 80184006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 80140703 80140792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8016009 8046067 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 80176768 80176860 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 80217187 80217440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80217331 80217438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80217428 80217528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80217431 80217655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80343141 80374805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 80370408 80549399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 80370408 80549399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 80370430 80549400 Copy number Lung cancer - 20668451 NOT_FOUND chr16 80370430 80549400 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 80370430 80549400 Gain or loss Cancer - 20668451 NOT_FOUND chr16 80370430 80549400 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 80370430 80549400 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 80370430 80549400 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 80370430 80549400 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 80370431 80549399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 80373640 80390488 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 80395111 80395165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 68040343 68040443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80486414 80486504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 804894 1111069 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHTF18,GNG13,LMF1,MIR662,MSLN,PRR25,RPUSD1,SOX8 chr16 80500000 82700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATMIN,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,HSD17B2,LOC100129617,MIR4720,MPHOSPH6,PKD1L2,PLCG2,SDR42E1 chr16 80500000 82700000 Deletion Medulloblastoma SNP arrays 21979893 ATMIN,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,HSD17B2,LOC100129617,MIR4720,MPHOSPH6,PKD1L2,PLCG2,SDR42E1 chr16 80500000 82700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATMIN,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,HSD17B2,LOC100129617,MIR4720,MPHOSPH6,PKD1L2,PLCG2,SDR42E1 chr16 80500000 85600000 Gain Non-small cell lung cancer dChip 21829676 ADAD2,ATMIN,ATP2C2,BCMO1,C16orf46,CDH13,CDYL2,CENPN,CMC2,CMIP,COTL1,CRISPLD2,DNAAF1,DYNLRB2,FAM92B,GAN,GCSH,HSBP1,HSD17B2,HSDL1,KCNG4,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC100129617,LOC400548,MBTPS1,MIR3182,MIR4720,MIR5093,MLYCD,MPHOSPH6,NECAB2,OSGIN1,PKD1L2,PLCG2,SDR42E1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 80500000 88827254 Gain Normal Human genome CGH 77k ARRAY PLATFORM 22144094 ADAD2,ATMIN,ATP2C2,BANP,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CDH13,CDYL2,CENPN,CMC2,CMIP,COTL1,COX4I1,CRISPLD2,CTU2,CYBA,DNAAF1,DYNLRB2,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GAN,GCSH,GINS2,HSBP1,HSD17B2,HSDL1,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC100129617,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4720,MIR4722,MIR5093,MIR5189,MLYCD,MPHOSPH6,MTHFSD,MVD,NECAB2,OSGIN1,PIEZO1,PKD1L2,PLCG2,RNF166,SDR42E1,SLC38A8,SLC7A5,SNAI3,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 80520835 80520867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80523960 80524047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8052809 8078101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 80553032 80553273 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 80553032 80553348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 80553032 80553355 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 80555069 80555219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80555201 82022600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATMIN,BCMO1,C16orf46,CDYL2,CENPN,CMC2,CMIP,DYNLRB2,GAN,GCSH,LOC100129617,MIR4720,PKD1L2,PLCG2 chr16 80588753 80602594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 80588753 80602594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 80588759 80602571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 80593429 80608616 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 80605897 81458377 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 ATMIN,BCMO1,C16orf46,CDYL2,CENPN,CMC2,GAN,GCSH,MIR4720,PKD1L2 chr16 80626364 80689638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDYL2 chr16 80626364 80689638 Gain and loss Pancreatic cancer SNP array 17952125 CDYL2 chr16 80626364 80689638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDYL2 chr16 80634494 80634815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 80653686 80670692 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDYL2 chr16 80663800 80686278 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CDYL2 chr16 80710620 80710715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDYL2 chr16 80711601 80711668 Gain and loss Pancreatic cancer SNP array 17952125 CDYL2 chr16 80711601 80711668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDYL2 chr16 80711670 80711736 Gain and loss Pancreatic cancer SNP array 17952125 CDYL2 chr16 80711670 80711736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDYL2 chr16 80712880 80712948 Gain and loss Pancreatic cancer SNP array 17952125 CDYL2 chr16 80712880 80712948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDYL2 chr16 80713566 80713666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDYL2 chr16 8071714 8100024 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr16 80721699 80721960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDYL2 chr16 80739268 80761330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDYL2 chr16 80739268 80761330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDYL2 chr16 80739273 80761313 Gain and loss Pancreatic cancer SNP array 17952125 CDYL2 chr16 80739605 82222770 Deletion Obesity Illumina SNP array 20622171 ATMIN,BCMO1,C16orf46,CDYL2,CENPN,CMC2,CMIP,GAN,GCSH,HSD17B2,LOC100129617,MIR4720,MPHOSPH6,PKD1L2,PLCG2,SDR42E1 chr16 80759878 82408573 Deletion Cancer Affymetrix 250K Sty array 20164920 ATMIN,BCMO1,C16orf46,CDYL2,CENPN,CMC2,CMIP,GAN,GCSH,HSD17B2,LOC100129617,MIR4720,MPHOSPH6,PKD1L2,PLCG2,SDR42E1 chr16 80812240 80812382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDYL2 chr16 80820958 80831050 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDYL2 chr16 80866730 80867647 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 80944803 80944867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 80951778 81548504 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATMIN,BCMO1,C16orf46,CENPN,CMC2,CMIP,GAN,GCSH,MIR4720,PKD1L2 chr16 80958508 80958574 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 80972437 88692209 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 ADAD2,ATMIN,ATP2C2,BANP,BCMO1,C16orf46,C16orf74,C16orf95,CA5A,CDH13,CENPN,CMC2,CMIP,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GAN,GCSH,GINS2,HSBP1,HSD17B2,HSDL1,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC100129617,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MIR1910,MIR3182,MIR4720,MIR5093,MIR5189,MLYCD,MPHOSPH6,MTHFSD,NECAB2,OSGIN1,PKD1L2,PLCG2,SDR42E1,SLC38A8,SLC7A5,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 80974017 81018675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CMC2 chr16 8099107 8099799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 81006303 81039189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CMC2 chr16 81016344 81049425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CENPN,CMC2 chr16 81028068 81028166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMC2 chr1 68103517 72980239 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD13C,CTH,DEPDC1,DIRAS3,GADD45A,GNG12,GNG12-AS1,HHLA3,LRRC40,LRRC7,MIR1262,MIR186,NEGR1,NEGR1-IT1,PIN1P1,PTGER3,RPE65,SRSF11,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr16 81040022 81040348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CENPN,CMC2 chr16 81045426 81045521 Gain and loss Pancreatic cancer SNP array 17952125 CENPN chr16 81045426 81045521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CENPN chr16 81088767 81088867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf46 chr16 81099311 81099411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf46 chr16 81109185 81240041 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C16orf46,GCSH,PKD1L2 chr16 81117 83756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 8116843 8413943 Copy number Schizophrenia - 18511947 NOT_FOUND chr16 81171613 81171677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKD1L2 chr16 81194800 81194883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKD1L2 chr16 81218001 81219000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PKD1L2 chr16 81223646 81237214 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 PKD1L2 chr16 81237214 81242637 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 PKD1L2 chr16 8127204 8127313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 81299843 81299943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCMO1 chr16 81334785 81397804 Gain Normal Birdsuite, version 1.5.2 22087296 GAN chr1 68134450 68134550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 81358230 81358305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAN chr16 8138663 8435529 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr16 81389048 82008540 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CMIP,GAN,LOC100129617,MIR4720,PLCG2 chr16 81397804 81413514 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 GAN chr16 81433192 81433306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 81439761 82387705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMIP,HSD17B2,LOC100129617,MPHOSPH6,PLCG2,SDR42E1 chr16 81439761 82387705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMIP,HSD17B2,LOC100129617,MPHOSPH6,PLCG2,SDR42E1 chr16 81449460 82387705 Gain and loss Pancreatic cancer SNP array 17952125 CMIP,HSD17B2,LOC100129617,MPHOSPH6,PLCG2,SDR42E1 chr16 81460473 81460538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 81460473 81460538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 81539093 81784852 Loss Prostate cancer Array CGH 18632612 CMIP,LOC100129617 chr16 81547517 81547641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CMIP chr16 81561477 81561771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CMIP chr16 81589855 81589955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMIP chr16 81592953 81637815 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CMIP chr16 81597428 81597513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMIP chr16 81600070 81600165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMIP chr16 81611835 81611907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMIP chr16 81630362 81647884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CMIP chr16 8165917 8165977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 816629 816959 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 MSLN chr16 81667968 81668027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CMIP chr16 8168512 8170505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 81686256 81686356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMIP chr1 6816980 6817265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 81700000 87100000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ADAD2,ATP2C2,C16orf74,CDH13,CMIP,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSD17B2,HSDL1,IRF8,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC100129617,LOC146513,LOC400548,LOC732275,MBTPS1,MIR1910,MIR3182,MIR5093,MLYCD,MPHOSPH6,MTHFSD,NECAB2,OSGIN1,PLCG2,SDR42E1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 81700000 87100000 Loss Prostate cancer Array CGH 16461572 ADAD2,ATP2C2,C16orf74,CDH13,CMIP,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSD17B2,HSDL1,IRF8,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC100129617,LOC146513,LOC400548,LOC732275,MBTPS1,MIR1910,MIR3182,MIR5093,MLYCD,MPHOSPH6,MTHFSD,NECAB2,OSGIN1,PLCG2,SDR42E1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 81706187 82050795 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CMIP,PLCG2,SDR42E1 chr16 81713945 81714045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMIP chr1 68173926 68174487 Gain and loss Pancreatic cancer SNP array 17952125 GNG12 chr16 81742548 81759394 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 CMIP chr16 81753452 81765933 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 81756080 81756180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 81767936 81767994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 81769899 81872085 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 PLCG2 chr1 68183827 68183922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12 chr16 81879664 81879721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCG2 chr16 81926795 81960024 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCG2 chr16 81991649 81991721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCG2 chr16 819974 820049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 81998903 82019054 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr16 82014513 82021922 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 82021922 82682771 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CDH13,HSD17B2,MPHOSPH6,SDR42E1 chr16 82022601 83996000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13,HSBP1,HSD17B2,MIR3182,MLYCD,MPHOSPH6,OSGIN1,SDR42E1 chr16 82048834 82048934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 82049781 82049861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 82102205 82102295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSD17B2 chr16 82164503 82164691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 82186100 82186200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPHOSPH6 chr16 82206271 82790849 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDH13 chr1 68221033 68221941 Gain and loss Pancreatic cancer SNP array 17952125 GNG12 chr16 82214966 82248859 Loss Normal 244K array 17666407 NOT_FOUND chr16 8221899 8737890 LOH Normal High-resolution SNP genotyping 21211785 METTL22,TMEM114 chr16 8221899 8773812 LOH Normal High-resolution SNP genotyping 21211785 ABAT,METTL22,TMEM114 chr1 68222067 68222157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12 chr16 82221595 82253574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 82224224 82251673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 82228341 82234413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 68223668 68229335 Gain and loss Pancreatic cancer SNP array 17952125 GNG12 chr16 82249001 82250500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 822785 824518 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 82288408 82288508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 82295946 82296179 Loss Normal 244K array 17666407 NOT_FOUND chr16 82324148 82371577 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr16 82325542 82325692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 68234493 68235054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12 chr16 82365996 82366583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 82391898 82426612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 82399093 82404095 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr16 82399094 82400529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82399123 82400529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 82446130 88827254 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,CDH13,COTL1,COX4I1,CRISPLD2,CTU2,CYBA,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4722,MIR5093,MIR5189,MLYCD,MTHFSD,MVD,NECAB2,OSGIN1,PIEZO1,RNF166,SLC38A8,SLC7A5,SNAI3,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 82447180 82449270 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 82467827 82500439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 8247801 8652600 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM114 chr16 82490231 82507286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82490231 82507286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 82490231 82507286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82503001 82521500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 82507007 82581425 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr16 82515038 86823390 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAD2,ATP2C2,C16orf74,CDH13,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IRF8,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MBTPS1,MIR1910,MIR3182,MIR5093,MLYCD,MTHFSD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 82521501 82524000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 82524001 82641500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 82540173 82557437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 82540173 82557438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82540173 82557438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82557318 82683859 Loss Autism - 20841430 CDH13 chr16 82559737 82593880 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 82559738 82593878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82559738 82593878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 82559738 82593878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82584041 82639297 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr16 82600889 82633263 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 82600890 82633263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82600890 82633263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82600902 82633197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 82622574 82667809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH13 chr16 82631024 82631139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 82631025 82631138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 82631052 82631142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 826424 854842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHTF18,GNG13,RPUSD1 chr16 82644869 82708018 Amplification Intellectual disability 100k SNP Array 21811512 CDH13 chr16 82644872 82708018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82644872 82708018 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82644872 82708018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82653953 82710695 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr1 68267066 68267098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12 chr16 82700000 85600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAD2,ATP2C2,CDH13,COTL1,CRISPLD2,DNAAF1,FAM92B,HSBP1,HSDL1,KCNG4,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC400548,MBTPS1,MIR3182,MIR5093,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 82700000 85600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAD2,ATP2C2,CDH13,COTL1,CRISPLD2,DNAAF1,FAM92B,HSBP1,HSDL1,KCNG4,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC400548,MBTPS1,MIR3182,MIR5093,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 82700000 85600000 Microdeletion Alveolar capillary dysplasia array CGH 19500772 ADAD2,ATP2C2,CDH13,COTL1,CRISPLD2,DNAAF1,FAM92B,HSBP1,HSDL1,KCNG4,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC400548,MBTPS1,MIR3182,MIR5093,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 82700000 87200000 Microdeletions VACTERL syndrome Illumina Omni-2-Quad SNP array 21315191 ADAD2,ATP2C2,C16orf74,CDH13,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IRF8,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MBTPS1,MIR1910,MIR3182,MIR5093,MLYCD,MTHFSD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 82700000 88827254 Deletions or mutations VACTERL syndrome Illumina Omni-1-Quad SNP array 21315191 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,CDH13,COTL1,COX4I1,CRISPLD2,CTU2,CYBA,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4722,MIR5093,MIR5189,MLYCD,MTHFSD,MVD,NECAB2,OSGIN1,PIEZO1,RNF166,SLC38A8,SLC7A5,SNAI3,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 82700000 88827254 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,CDH13,COTL1,COX4I1,CRISPLD2,CTU2,CYBA,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4722,MIR5093,MIR5189,MLYCD,MTHFSD,MVD,NECAB2,OSGIN1,PIEZO1,RNF166,SLC38A8,SLC7A5,SNAI3,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 82700000 88827254 Loss Prostate cancer Array CGH 16573809 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,CDH13,COTL1,COX4I1,CRISPLD2,CTU2,CYBA,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4722,MIR5093,MIR5189,MLYCD,MTHFSD,MVD,NECAB2,OSGIN1,PIEZO1,RNF166,SLC38A8,SLC7A5,SNAI3,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 82700000 88827254 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,CDH13,COTL1,COX4I1,CRISPLD2,CTU2,CYBA,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4722,MIR5093,MIR5189,MLYCD,MTHFSD,MVD,NECAB2,OSGIN1,PIEZO1,RNF166,SLC38A8,SLC7A5,SNAI3,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 82700000 88827254 Translocation Developmental delay FISH 19490664 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,CDH13,COTL1,COX4I1,CRISPLD2,CTU2,CYBA,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MGC23284,MIR1910,MIR3182,MIR4722,MIR5093,MIR5189,MLYCD,MTHFSD,MVD,NECAB2,OSGIN1,PIEZO1,RNF166,SLC38A8,SLC7A5,SNAI3,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 82713389 82736265 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82713389 82736265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82723121 83882068 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CDH13,HSBP1,MIR3182 chr16 82736365 82769025 Amplification Intellectual disability 100k SNP Array 21811512 CDH13 chr16 82736366 82769024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82736366 82769024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82736393 82769024 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82743349 82743399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr1 68276173 68410274 Gain and loss Pancreatic cancer SNP array 17952125 GNG12,GNG12-AS1 chr16 82767501 82773500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13 chr16 82768961 82778163 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CDH13 chr16 82768962 82778163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82768962 82778163 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82768962 82778163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82773501 82785500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13 chr16 82774218 84680399 Amplification Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 ADAD2,ATP2C2,CDH13,COTL1,DNAAF1,HSBP1,HSDL1,KCNG4,KIAA1609,MBTPS1,MIR3182,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C,WFDC1 chr16 82782245 82788273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82782245 82788273 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82782245 82788273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82783665 82788160 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82785501 82789500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13 chr16 82789501 83051000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13 chr16 82793430 82793530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82800294 82887663 Loss Autism qPCR 20531469 CDH13 chr16 82806085 82806180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82810486 82810580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82813324 82830857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82813324 82830857 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82813324 82830857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr1 68281620 68282508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12 chr16 82827767 82827938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82827864 82827963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82828019 82828113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr1 68284232 68289069 Gain or loss Breast cancer - 20668451 GNG12 chr1 68284232 68289069 Gain or loss Cancer - 20668451 GNG12 chr1 68284232 68289069 Gain or loss Lung cancer - 20668451 GNG12 chr1 68284232 68289069 Gain or loss Ovarian cancer - 20668451 GNG12 chr1 68284232 68289069 Gain or loss Pancreas cancer - 20668451 GNG12 chr1 68284232 68289069 Gain or loss Prostate cancer - 20668451 GNG12 chr1 68284233 68289902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNG12 chr1 68284233 68289902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12 chr16 82853922 82854035 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82853922 82854035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82853942 82854035 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 828603 839477 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHTF18,RPUSD1 chr1 68287631 68288016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12 chr16 82885822 82920888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82885822 82920888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82885901 82920951 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CDH13 chr16 82885902 82920927 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 82911612 82911710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82911883 82912101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82912122 82912324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82916775 82917402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82917383 86364648 Loss Developmental delay affymetrix genechip 500K/SNP 6.71 array 21147756 ADAD2,ATP2C2,C16orf74,CDH13,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,GINS2,HSBP1,HSDL1,IRF8,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC146513,LOC400548,MBTPS1,MIR1910,MIR3182,MIR5093,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 82934310 82934410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82948215 82948293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 82959634 83055293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82959634 83055293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 82990535 83030397 Loss Autism Exome sequencing and CGH 22495309 CDH13 chr16 82995534 83055107 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83024703 83048144 Copy number loss Normal High-resolution SNP genotyping 21211785 CDH13 chr16 83051001 83054500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13 chr16 83053982 83054282 Gain Normal 244K array 17666407 CDH13 chr16 83054501 83271000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13 chr16 83056817 83061318 Loss Normal 244K array 17666407 CDH13 chr16 83058850 83062414 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CDH13 chr16 83058940 83061596 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH13 chr16 83068608 83095794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83068608 83095794 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83068608 83095794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 831018 851813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHTF18,GNG13,RPUSD1 chr1 68310202 68368933 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GNG12-AS1 chr1 68313202 77461343 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ACADM,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DEPDC1,DIRAS3,FPGT,FPGT-TNNI3K,GNG12-AS1,HHLA3,LHX8,LRRC40,LRRC7,LRRIQ3,MIR1262,MIR186,MSH4,NEGR1,NEGR1-IT1,PIN1P1,PTGER3,RABGGTB,RPE65,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TYW3,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr1 68315432 68315532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1 chr16 83156709 83209188 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83156738 83209203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83156738 83209203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 831713 838089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPUSD1 chr16 83185632 83185732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 8319966 8319998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 83201418 83232168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH13 chr16 83207007 88690615 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,CDH13,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MIR1910,MIR3182,MIR5093,MIR5189,MLYCD,MTHFSD,NECAB2,OSGIN1,SLC38A8,SLC7A5,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 83213092 83229821 Gain Normal 244K array 17666407 CDH13 chr16 83226394 83295586 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 CDH13 chr16 83239632 83253416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83239632 83253416 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83239632 83253416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 8324788 8325164 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 83291050 83371026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83291050 83371026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83291119 83371026 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr1 68330089 68330223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1 chr16 83304616 83304716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83330703 83350815 Substitutions and indels small cell lung cancer array-CGH 20016488 CDH13 chr16 83343173 83535839 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 CDH13 chr16 83347436 83347536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83355819 87816747 Substitutions and indels small cell lung cancer array-CGH 20016488 ADAD2,ATP2C2,C16orf74,C16orf95,CDH13,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,HSBP1,HSDL1,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MBTPS1,MIR1910,MIR3182,MIR5093,MLYCD,MTHFSD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZCCHC14,ZDHHC7 chr1 68336738 68470841 Amplification Intellectual disability 100k SNP Array 21811512 GNG12-AS1 chr1 68336740 68470854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1 chr1 68336740 68470854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1 chr16 83370000 85070000 Loss Acute lymphoblastic leukemia - 21339820 ADAD2,ATP2C2,CDH13,COTL1,CRISPLD2,DNAAF1,HSBP1,HSDL1,KCNG4,KIAA0513,KIAA1609,KLHL36,MBTPS1,MIR3182,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 83376501 83667500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13,MIR3182 chr16 833913 840206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHTF18,RPUSD1 chr16 83411113 83500608 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83411113 83500614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83411113 83500614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83447437 83494788 Loss Normal Birdsuite, version 1.5.2 22087296 CDH13 chr16 83452383 83452483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr1 68346947 68347037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1 chr1 683476 683578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 683476 683579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 8348724 8361778 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 8348724 8370118 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 83511584 83511984 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83511584 83511984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr1 68351318 68351418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1 chr16 8355086 8355186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 83565573 83602642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83565573 83602642 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83565573 83602642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83586351 83640211 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 CDH13 chr16 83588462 83588542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83597947 83600680 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH13 chr16 83610254 83610354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83618910 83685329 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 CDH13 chr16 83618911 83685327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83618911 83685327 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83618911 83685327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83644296 85244296 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ADAD2,ATP2C2,CDH13,COTL1,CRISPLD2,DNAAF1,FAM92B,HSBP1,HSDL1,KCNG4,KIAA0513,KIAA1609,KLHL36,LOC400548,MBTPS1,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7 chr16 83646769 83659796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH13 chr16 83652612 83652708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83666158 83666335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83666388 83666488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83667501 83945500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH13,HSBP1,MLYCD chr1 68367114 68367311 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNG12-AS1 chr16 83678678 83678766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83680946 83680995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83689465 83703615 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 CDH13 chr16 83689466 83703615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83689466 83703615 Gain and loss Pancreatic cancer SNP array 17952125 CDH13 chr16 83689466 83703615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH13 chr16 83706989 83707576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH13 chr16 83725096 83725180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 83747731 84274333 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ADAD2,CDH13,DNAAF1,HSBP1,HSDL1,KCNG4,MBTPS1,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C chr16 83763410 84264134 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ADAD2,CDH13,DNAAF1,HSBP1,HSDL1,KCNG4,MBTPS1,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C chr16 83783096 83783196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr1 68379469 68427455 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GNG12-AS1 chr16 83804696 84688032 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAD2,ATP2C2,CDH13,COTL1,DNAAF1,HSBP1,HSDL1,KCNG4,KIAA1609,KLHL36,MBTPS1,MLYCD,NECAB2,OSGIN1,SLC38A8,TAF1C,WFDC1 chr16 83817258 84006448 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CDH13,HSBP1,MLYCD,NECAB2,OSGIN1 chr16 83828699 83828799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH13 chr16 838412 857932 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHTF18,GNG13,PRR25 chr16 83859801 83862615 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 83859817 83862162 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 83859993 83861891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 83860208 83861626 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr16 83874065 83879184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 83874065 83879184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 83874065 83879184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 8389266 8764399 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 METTL22,TMEM114 chr16 83906768 83906889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 83941795 83941895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLYCD chr16 83945501 84056000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MLYCD,NECAB2,OSGIN1,SLC38A8 chr1 68394851 68394951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1 chr16 83956314 84381984 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAD2,DNAAF1,HSDL1,KCNG4,MBTPS1,NECAB2,OSGIN1,SLC38A8,TAF1C,WFDC1 chr16 83957590 83957690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 83973688 84006192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NECAB2,OSGIN1 chr16 83988194 83988294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSGIN1 chr16 83992621 84009518 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NECAB2,OSGIN1 chr16 83993211 84005176 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NECAB2,OSGIN1 chr16 83994059 84012303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NECAB2,OSGIN1 chr16 83994118 84010803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NECAB2,OSGIN1 chr16 83996001 84299600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAD2,DNAAF1,HSDL1,KCNG4,MBTPS1,NECAB2,OSGIN1,SLC38A8,TAF1C chr16 83997150 84003577 Gain and loss Pancreatic cancer SNP array 17952125 NECAB2,OSGIN1 chr1 68400032 68401361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1 chr16 84039080 84039147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 84045582 84045682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC38A8 chr16 8405269 8405349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 68405446 106736186 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCA4,ABCD3,ACADM,ACTG1P4,AGL,AK5,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANKRD13C,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CRYZ,CTBS,CTH,CYR61,DBT,DDAH1,DEPDC1,DIRAS3,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,EXTL2,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG12-AS1,GNG5,GPR88,GTF2B,HFM1,HHLA3,HIAT1,HS2ST1,HSP90B3P,IFI44,IFI44L,KIAA1107,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,ODF2L,OLFM3,PALMD,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RBMXL1,RNPC3,RNU6-6,RPAP2,RPE65,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SEP15,SH3GLB1,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TRMT13,TTLL7,TYW3,UOX,USP33,VCAM1,WDR63,WLS,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 68405446 106736186 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCA4,ABCD3,ACADM,ACTG1P4,AGL,AK5,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANKRD13C,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CRYZ,CTBS,CTH,CYR61,DBT,DDAH1,DEPDC1,DIRAS3,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,EXTL2,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG12-AS1,GNG5,GPR88,GTF2B,HFM1,HHLA3,HIAT1,HS2ST1,HSP90B3P,IFI44,IFI44L,KIAA1107,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR1262,MIR137,MIR137HG,MIR186,MIR2682,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,ODF2L,OLFM3,PALMD,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RBMXL1,RNPC3,RNU6-6,RPAP2,RPE65,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SEP15,SH3GLB1,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TRMT13,TTLL7,TYW3,UOX,USP33,VCAM1,WDR63,WLS,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 68405446 72539860 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD13C,CTH,DEPDC1,DIRAS3,GNG12-AS1,HHLA3,LRRC40,LRRC7,MIR1262,MIR186,NEGR1,NEGR1-IT1,PIN1P1,PTGER3,RPE65,SRSF11,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr1 68405446 72539860 Copy number gain Normal High-resolution SNP genotyping 21211785 ANKRD13C,CTH,DEPDC1,DIRAS3,GNG12-AS1,HHLA3,LRRC40,LRRC7,MIR1262,MIR186,NEGR1,NEGR1-IT1,PIN1P1,PTGER3,RPE65,SRSF11,WLS,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr16 84056001 84114500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MBTPS1,SLC38A8 chr16 84091805 84091905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBTPS1 chr16 84094051 84247154 Deletion Medulloblastoma Illumina SNP arrays 21163964 ADAD2,DNAAF1,HSDL1,MBTPS1,TAF1C chr16 84114501 84117500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MBTPS1 chr16 84117501 84201000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAAF1,HSDL1,MBTPS1 chr16 84126825 84126924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBTPS1 chr16 8417995 8418194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8418182 8418398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 84200000 87100000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADAD2,ATP2C2,C16orf74,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IRF8,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MIR1910,MIR5093,MTHFSD,TAF1C,USP10,WFDC1,ZDHHC7 chr16 84200000 88700000 Loss and deletion Multiple myeloma Array CGH 16616336 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MIR1910,MIR5093,MIR5189,MTHFSD,SLC7A5,TAF1C,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 84200000 90354753 Deletion Lung cancer Relied on a multipoint score function 16773561 ACSF3,ADAD2,AFG3L1P,ANKRD11,APRT,ATP2C2,BANP,C16orf3,C16orf55,C16orf7,C16orf74,C16orf95,CA5A,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,COTL1,COX4I1,CPNE7,CRISPLD2,CTU2,CYBA,DBNDD1,DEF8,DNAAF1,DPEP1,EMC8,FAM92B,FANCA,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GALNS,GAS8,GINS2,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00304,LINC00311,LOC100128881,LOC100130015,LOC100287036,LOC146513,LOC400548,LOC400558,LOC732275,MAP1LC3B,MC1R,MGC23284,MIR1910,MIR4722,MIR5093,MIR5189,MTHFSD,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SLC7A5,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TAF1C,TCF25,TRAPPC2L,TUBB3,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF276,ZNF469,ZNF778 chr16 84200000 90354753 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACSF3,ADAD2,AFG3L1P,ANKRD11,APRT,ATP2C2,BANP,C16orf3,C16orf55,C16orf7,C16orf74,C16orf95,CA5A,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,COTL1,COX4I1,CPNE7,CRISPLD2,CTU2,CYBA,DBNDD1,DEF8,DNAAF1,DPEP1,EMC8,FAM92B,FANCA,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GALNS,GAS8,GINS2,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00304,LINC00311,LOC100128881,LOC100130015,LOC100287036,LOC146513,LOC400548,LOC400558,LOC732275,MAP1LC3B,MC1R,MGC23284,MIR1910,MIR4722,MIR5093,MIR5189,MTHFSD,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SLC7A5,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TAF1C,TCF25,TRAPPC2L,TUBB3,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF276,ZNF469,ZNF778 chr16 84200000 90354753 Loss Breast cancer BAC-arrays 17001317 ACSF3,ADAD2,AFG3L1P,ANKRD11,APRT,ATP2C2,BANP,C16orf3,C16orf55,C16orf7,C16orf74,C16orf95,CA5A,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,COTL1,COX4I1,CPNE7,CRISPLD2,CTU2,CYBA,DBNDD1,DEF8,DNAAF1,DPEP1,EMC8,FAM92B,FANCA,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GALNS,GAS8,GINS2,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00304,LINC00311,LOC100128881,LOC100130015,LOC100287036,LOC146513,LOC400548,LOC400558,LOC732275,MAP1LC3B,MC1R,MGC23284,MIR1910,MIR4722,MIR5093,MIR5189,MTHFSD,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SLC7A5,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TAF1C,TCF25,TRAPPC2L,TUBB3,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF276,ZNF469,ZNF778 chr16 84200000 90354753 Loss Prostate cancer Array CGH 16573809 ACSF3,ADAD2,AFG3L1P,ANKRD11,APRT,ATP2C2,BANP,C16orf3,C16orf55,C16orf7,C16orf74,C16orf95,CA5A,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,COTL1,COX4I1,CPNE7,CRISPLD2,CTU2,CYBA,DBNDD1,DEF8,DNAAF1,DPEP1,EMC8,FAM92B,FANCA,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GALNS,GAS8,GINS2,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00304,LINC00311,LOC100128881,LOC100130015,LOC100287036,LOC146513,LOC400548,LOC400558,LOC732275,MAP1LC3B,MC1R,MGC23284,MIR1910,MIR4722,MIR5093,MIR5189,MTHFSD,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SLC7A5,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TAF1C,TCF25,TRAPPC2L,TUBB3,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF276,ZNF469,ZNF778 chr16 84201001 84254000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAD2,DNAAF1,TAF1C chr1 68420178 68420759 Gain and loss Pancreatic cancer SNP array 17952125 GNG12-AS1 chr16 84202524 84267311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAD2,DNAAF1,KCNG4,TAF1C chr16 84202524 84267311 Gain and loss Pancreatic cancer SNP array 17952125 ADAD2,DNAAF1,KCNG4,TAF1C chr16 84202524 84267311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAD2,DNAAF1,KCNG4,TAF1C chr16 84210118 84210186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAAF1 chr1 68421789 68421881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1 chr16 84221253 88815036 Gain Developmental delay affymetrix genechip 500K/SNP 6.72 array 21147756 ADAD2,ATP2C2,BANP,C16orf74,C16orf95,CA5A,COTL1,COX4I1,CRISPLD2,CTU2,CYBA,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IL17C,IRF8,JPH3,KCNG4,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MGC23284,MIR1910,MIR4722,MIR5093,MIR5189,MTHFSD,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,USP10,WFDC1,ZC3H18,ZCCHC14,ZDHHC7,ZFPM1,ZNF469 chr16 84250485 84250780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 84250485 84250782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 84254001 85085000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2C2,COTL1,CRISPLD2,KCNG4,KIAA0513,KIAA1609,KLHL36,USP10,WFDC1,ZDHHC7 chr16 84268782 84280089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNG4 chr16 84268782 84280089 Gain and loss Pancreatic cancer SNP array 17952125 KCNG4 chr16 84268782 84280089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNG4 chr1 68428799 68428899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1 chr16 84298624 84342190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WFDC1 chr16 84298624 84342190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WFDC1 chr16 84298630 84342190 Gain and loss Pancreatic cancer SNP array 17952125 WFDC1 chr16 84299601 85083900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2C2,COTL1,CRISPLD2,KIAA0513,KIAA1609,KLHL36,USP10,WFDC1,ZDHHC7 chr1 6843093 9540699 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CA6,CAMTA1,ENO1,ENO1-AS1,ERRFI1,GPR157,H6PD,MIR34A,PARK7,PER3,RERE,SLC2A5,SLC2A7,SLC45A1,SPSB1,TNFRSF9,UTS2,VAMP3 chr16 84332728 84332807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WFDC1 chr16 84339154 84339288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WFDC1 chr16 843639 960983 Gain and loss Pancreatic cancer SNP array 17952125 CHTF18,GNG13,LMF1,PRR25 chr16 843639 960985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHTF18,GNG13,LMF1,PRR25 chr16 843639 960985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHTF18,GNG13,LMF1,PRR25 chr16 84369737 84390601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 84369737 84390601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 84369737 84390601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 84372831 84373006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 84372887 84373005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 84380376 84384901 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 84385507 87825785 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP2C2,C16orf74,C16orf95,COTL1,COX4I1,CRISPLD2,EMC8,FAM92B,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IRF8,JPH3,KIAA0182,KIAA0513,KIAA1609,KLHDC4,KLHL36,LINC00311,LOC146513,LOC400548,LOC732275,MAP1LC3B,MIR1910,MIR5093,MTHFSD,USP10,ZCCHC14,ZDHHC7 chr16 84390697 84398109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 84390697 84398109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 84390697 84398109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 84406980 84407643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2C2 chr16 84406980 84407646 Gain and loss Pancreatic cancer SNP array 17952125 ATP2C2 chr16 844265 844353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHTF18 chr16 84457587 84492774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP2C2 chr16 84474549 84474827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP2C2 chr16 84490275 84513710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2C2,KIAA1609 chr16 84490275 84513710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2C2,KIAA1609 chr16 84490290 84512600 Gain and loss Pancreatic cancer SNP array 17952125 ATP2C2,KIAA1609 chr16 84554440 84555058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 84564381 84564959 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 84608043 84640642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COTL1 chr1 68462001 68494556 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GNG12-AS1 chr16 84626796 84627526 Gain and loss Pancreatic cancer SNP array 17952125 COTL1 chr16 8479311 8479411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 68480745 68481326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1 chr1 68480745 68481326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1 chr16 84841810 84842117 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 84841810 84842117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 84850283 85033002 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 CRISPLD2,ZDHHC7 chr16 84866536 84866630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRISPLD2 chr16 84866538 84866630 Gain and loss Pancreatic cancer SNP array 17952125 CRISPLD2 chr16 84866540 84866630 Gain and loss Pancreatic cancer SNP array 17952125 CRISPLD2 chr16 84871012 84981407 Gain Stenocardia MACArray Karyo 80K BAC-chips 21860640 CRISPLD2 chr16 84871012 84981407 Gain Vasospasm MACArray Karyo 80K BAC-chips 21860640 CRISPLD2 chr16 84925626 85139173 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 CRISPLD2,FAM92B,KIAA0513,ZDHHC7 chr16 84926875 84929941 Gain and loss Pancreatic cancer SNP array 17952125 CRISPLD2 chr16 84926875 84936786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRISPLD2 chr16 84926875 84936786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRISPLD2 chr16 84941228 84941328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRISPLD2 chr16 85022235 85022350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZDHHC7 chr16 85055214 85055662 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr16 850695 899171 Copy number Autism exome sequencing 22495311 GNG13,PRR25 chr16 85083901 85159800 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM92B,KIAA0513 chr16 85085001 85111500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0513 chr16 85101633 85105571 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KIAA0513 chr16 85101634 85105570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0513 chr16 85101634 85105570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0513 chr16 85101659 85105548 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0513 chr16 85111501 85906000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf74,COX4I1,EMC8,FAM92B,GINS2,KIAA0182,KIAA0513,LINC00311,LOC400548,MIR1910,MIR5093 chr16 85113374 85126859 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0513 chr16 85113374 85126900 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0513 chr16 85113374 85128190 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA0513 chr16 85116585 85117335 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0513 chr16 85121284 85157509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM92B,KIAA0513 chr16 85121284 85157509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM92B,KIAA0513 chr16 85121988 85158596 Gain and loss Pancreatic cancer SNP array 17952125 FAM92B,KIAA0513 chr16 85146427 85148406 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 85158358 85160033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 85158358 85160033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 85158443 85159948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 85159801 85918800 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf74,COX4I1,EMC8,GINS2,KIAA0182,LINC00311,LOC400548,MIR1910,MIR5093 chr16 85169616 85172804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC400548 chr16 85169616 85172804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC400548 chr16 85169831 85170868 Gain and loss Pancreatic cancer SNP array 17952125 LOC400548 chr16 85171711 86599633 Amplification Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 C16orf74,COX4I1,EMC8,FLJ30679,FOXF1,FOXF1-AS1,GINS2,IRF8,KIAA0182,LINC00311,LOC146513,LOC400548,LOC732275,MIR1910,MIR5093,MTHFSD chr1 68518519 68518619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1 chr16 85194539 85194823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 68520640 68520889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1 chr16 8521047 8521128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85273627 85273717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85281766 85281856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85289299 85289353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8535302 8535495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8535397 8535510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85367645 85367705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8537993 8541181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 85388538 85433860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 85399263 85564336 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 85403888 85403920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85406871 85406971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85436033 85436133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85497830 85497930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85527980 85609265 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr16 8557001 8856000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABAT,METTL22,TMEM114 chr16 85583471 85583551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8559504 8562226 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 85600000 87200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C16orf74,COX4I1,EMC8,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IRF8,KIAA0182,LOC146513,LOC732275,MIR1910,MTHFSD chr16 85600000 87200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C16orf74,COX4I1,EMC8,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IRF8,KIAA0182,LOC146513,LOC732275,MIR1910,MTHFSD chr16 85600000 87200000 Loss Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 C16orf74,COX4I1,EMC8,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IRF8,KIAA0182,LOC146513,LOC732275,MIR1910,MTHFSD chr16 85600000 88827254 Gain Medulloblastoma SNP arrays 21979893 BANP,C16orf74,C16orf95,CA5A,COX4I1,CTU2,CYBA,EMC8,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IL17C,IRF8,JPH3,KIAA0182,KLHDC4,LOC146513,LOC732275,MAP1LC3B,MGC23284,MIR1910,MIR4722,MIR5189,MTHFSD,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 85600000 88827254 Gain Normal Human genome CGH 74k ARRAY PLATFORM 22144094 BANP,C16orf74,C16orf95,CA5A,COX4I1,CTU2,CYBA,EMC8,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,GINS2,IL17C,IRF8,JPH3,KIAA0182,KLHDC4,LOC146513,LOC732275,MAP1LC3B,MGC23284,MIR1910,MIR4722,MIR5189,MTHFSD,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 85605263 85605410 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 85613933 85613965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85615005 85615124 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr16 85629719 85629784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 85646037 85646112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0182 chr16 85658482 85658555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0182 chr16 85671954 85672026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0182 chr16 85711280 85722588 Gain or loss Breast cancer 44A and 44B oligo aCGH microarrays 21082043 GINS2 chr1 68571266 68571345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1,WLS chr16 85716459 85716559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GINS2 chr16 85799709 85799809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8581817 8581817 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr16 8581817 8581817 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr16 85821074 85840649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COX4I1,EMC8 chr16 85835719 85835819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COX4I1 chr16 85842462 85897888 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr16 85843690 85897888 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr16 85843701 85843801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 85893924 85908349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 85893924 85908523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 85897888 86098581 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 IRF8 chr16 85905827 85905928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 85905827 85905928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 85906001 85928000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 85918801 86829600 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,IRF8,LOC146513,LOC732275,MTHFSD chr16 85920445 85974864 Gain and loss Pancreatic cancer SNP array 17952125 IRF8 chr16 85920445 85974877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRF8 chr16 85920445 85974877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRF8 chr16 85928001 86192500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IRF8 chr16 85930787 85930862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 8595669 8597061 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr16 8595669 8597063 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 85963377 88690615 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 BANP,C16orf95,CA5A,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,JPH3,KLHDC4,LOC146513,LOC732275,MAP1LC3B,MIR5189,MTHFSD,SLC7A5,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 85982907 85995883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 85983320 85995870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 85983320 85995870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 85997364 86082966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 85997378 86082961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 85997378 86082961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 85997918 86025248 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr16 85997979 85999233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 86015504 86016210 Gain Normal 244K array 17666407 NOT_FOUND chr16 86059816 86059881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 68606466 68627663 Gain and loss Pancreatic cancer SNP array 17952125 GNG12-AS1,WLS chr16 86098534 86143546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 68611101 68611201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1,WLS chr16 86126636 86308811 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr1 68613598 68613934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1,WLS chr16 86172468 87009930 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,LOC146513,LOC732275,MTHFSD chr16 86192501 86306000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86194000 86289263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 86194000 86289263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 86194000 86289263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 86195 3107469 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCA17P,ABCA3,AMDHD2,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf59,C16orf79,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC64B,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CLDN6,CLDN9,CRAMP1L,DECR2,DNASE1L2,E4F1,ECI1,EME2,ERVK13-1,FAHD1,FAM173A,FAM195A,FBXL16,FLJ42627,FLYWCH1,FLYWCH2,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HCFC1R1,HN1L,HS3ST6,IFT140,IGFALS,ITFG3,JMJD8,KCTD5,KREMEN2,LINC00235,LINC00254,LINC00514,LMF1,LOC100128770,LOC100134368,LOC652276,LUC7L,MAPK8IP3,MEIOB,METRN,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR5587,MIR662,MIR940,MLST8,MMP25,MPG,MRPL28,MRPS34,MSLN,MSRB1,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,PAQR4,PDIA2,PDPK1,PGP,PIGQ,PKD1,PKMYT1,POLR3K,PRR25,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SRRM2,SRRM2-AS1,SSTR5,SSTR5-AS1,STUB1,SYNGR3,TBC1D24,TBL3,TCEB2,TELO2,THOC6,TMEM204,TMEM8A,TNFRSF12A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZG16B,ZNF598 chr1 68619712 68619928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1,WLS chr16 86205955 86206199 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr16 8623027 8647580 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr16 8623028 8647580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 8623028 8647580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 8623049 8647578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 8623049 8647580 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 86246025 88690776 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BANP,C16orf95,CA5A,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,JPH3,KLHDC4,LOC146513,LOC732275,MAP1LC3B,MIR5189,MTHFSD,SLC7A5,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr1 68624695 68630253 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNG12-AS1,WLS chr16 86262704 86262755 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 86291389 86292831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 86292746 86293621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 86296007 86296510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 86298920 86357056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC146513 chr16 86298920 86357056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC146513 chr16 86298920 86357083 Gain and loss Pancreatic cancer SNP array 17952125 LOC146513 chr16 86306001 86392500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC146513,LOC732275 chr16 86324664 86324867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC146513 chr16 86345551 86359812 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 8636625 8714816 Gain Autism qPCR, Illumina1M 20531469 NOT_FOUND chr16 86392501 86462000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86421131 86460615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 86421131 86460615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 86421131 86460615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 86447257 86517872 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 FOXF1-AS1 chr16 86459771 86459809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86462001 86677500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,MTHFSD chr16 86476851 86671233 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,MTHFSD chr16 86479126 86527613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXF1-AS1 chr16 86479126 86527613 Gain and loss Pancreatic cancer SNP array 17952125 FOXF1-AS1 chr16 86479126 86527613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXF1-AS1 chr16 86484047 86484129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86524367 86524442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXF1-AS1 chr16 8652601 9234500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABAT,C16orf72,CARHSP1,METTL22,PMM2,TMEM186,USP7 chr1 68652960 68674786 Gain and loss Pancreatic cancer SNP array 17952125 GNG12-AS1,WLS chr16 86533633 88124707 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1078K arrays 21546498 BANP,C16orf95,CA5A,FBXO31,FLJ30679,FOXC2,FOXF1,FOXF1-AS1,FOXL1,JPH3,KLHDC4,MAP1LC3B,MTHFSD,SLC7A5,ZCCHC14 chr16 86539284 86539337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FOXF1-AS1 chr16 86539301 86539354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FOXF1-AS1 chr16 86542539 86668425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ30679,FOXC2,FOXF1,FOXL1,MTHFSD chr16 86542539 86668425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ30679,FOXC2,FOXF1,FOXL1,MTHFSD chr16 86542539 86709501 Gain and loss Pancreatic cancer SNP array 17952125 FLJ30679,FOXC2,FOXF1,FOXL1,MTHFSD chr16 86554067 88124707 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1074K arrays 21546498 BANP,C16orf95,CA5A,FBXO31,FLJ30679,FOXC2,FOXL1,JPH3,KLHDC4,MAP1LC3B,MTHFSD,SLC7A5,ZCCHC14 chr16 86554881 86570715 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTHFSD chr16 86560361 86560530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86565878 86565940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTHFSD chr16 86576805 88222835 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1077K arrays 21546498 BANP,C16orf95,CA5A,FBXO31,FLJ30679,FOXC2,FOXL1,JPH3,KLHDC4,MAP1LC3B,MTHFSD,SLC7A5,ZCCHC14 chr16 86580132 86581743 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MTHFSD chr16 86581816 86628689 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLJ30679,FOXC2,FOXL1,MTHFSD chr16 86590068 86591608 Gain and loss Pancreatic cancer SNP array 17952125 FLJ30679 chr1 68661039 68661101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNG12-AS1,WLS chr16 8662818 8664378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 8663044 8664235 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 86670232 86673159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 86670393 86673640 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 68667103 68688230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1,WLS chr1 68667103 68688230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG12-AS1,WLS chr16 86671164 86672892 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr16 86671164 86672892 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 86674516 88690776 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 BANP,C16orf95,CA5A,FBXO31,JPH3,KLHDC4,MAP1LC3B,MIR5189,SLC7A5,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr1 68667473 68667573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNG12-AS1,WLS chr16 86677501 86736500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86679148 86692066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 86691220 86736134 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 86698910 86699010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86699037 86699175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86702023 86702121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86730529 86775252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 86736501 86739500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86739501 86748000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86748001 86750500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86750501 86790000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86754605 86754732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 8675928 8785933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABAT,METTL22 chr16 8675928 8785933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABAT,METTL22 chr16 8675946 8785932 Gain and loss Pancreatic cancer SNP array 17952125 ABAT,METTL22 chr16 8675946 8785933 Deletion T-cell lymphomas Array-CGH 22341440 ABAT,METTL22 chr16 86790001 86795500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86795501 86815500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 686795 688830 Copy number Autism exome sequencing 22495311 NOT_FOUND chr16 86808845 86808945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86815501 86837000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86823390 88506340 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BANP,C16orf95,CA5A,FBXO31,JPH3,KLHDC4,MAP1LC3B,SLC7A5,ZCCHC14,ZNF469 chr16 86829601 87006700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86837001 86853500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 8684612 8684907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 8684613 8684909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 8684613 8684909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 86853501 86857500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86857501 86906500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86906501 87110000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 86922268 86922791 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 86937912 86937992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86963224 86963261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 86982615 86982797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 86986673 87137417 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr16 86998919 87002647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 68700000 69500000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 DEPDC1,RPE65 chr16 87006701 88827254 Copy number Normal ReadDepth: A Parallel R Package 21305028 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87021379 87034666 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 87030924 87033241 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87033189 87733189 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 C16orf95,FBXO31,JPH3,MAP1LC3B,ZCCHC14 chr16 87047226 87128890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87047226 87128890 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87047226 87128890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 8706814 8706876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87074061 87074141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 87085871 87086021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 87091936 87109063 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 87092258 87137402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 87094998 87095705 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 87100000 88700000 Deletion Acute myeloid leukemia Human Genome CGH 44k microarrays 17377590 BANP,C16orf95,CA5A,FBXO31,JPH3,KLHDC4,MAP1LC3B,MIR5189,SLC7A5,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87100000 88700000 Gain and amplification Multiple myeloma Array CGH 16616336 BANP,C16orf95,CA5A,FBXO31,JPH3,KLHDC4,MAP1LC3B,MIR5189,SLC7A5,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87110001 87116000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 87110561 87135152 Gain Normal 244K array 17666407 NOT_FOUND chr16 87113490 87113590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 87116001 87136500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 68713527 68735353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 68713527 68735353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87136501 87216500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 87147613 87164049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87147613 87164049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87164320 87225756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87164343 87225756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87164343 87225756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87200000 88827254 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87200000 88827254 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87200000 88827254 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87200000 88827254 Copy number Normal - 21701786 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87200000 88827254 Gain Breast cancer Array CGH 16608533 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87200000 88827254 Gain Disorders of sex development oligo V6.3 21048976 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87200000 88827254 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87200000 88827254 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87200000 88827254 Translocation Developmental delay FISH 19490664 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87216501 87258000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 87220199 87254453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 87226766 87226821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 87232502 87234031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87232502 87234385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87232502 87234385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87237199 87244950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87237199 87244958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87237199 87244958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87238098 87698143 Increase Cancer CGH 20581869 C16orf95,FBXO31,JPH3,MAP1LC3B,ZCCHC14 chr16 87245849 87257019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87245849 87257019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87245849 87257019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87258001 87270000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 87266465 87288783 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr16 87270001 87618500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C16orf95,FBXO31,MAP1LC3B,ZCCHC14 chr16 87271591 87280383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87271591 87280383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87271592 87280290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87279743 87280937 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr16 87290411 87300301 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87290411 87300312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87290411 87300312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87300000 87370000 Loss Acute lymphoblastic leukemia - 21339820 C16orf95,FBXO31 chr16 87300392 87309285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87300392 87309285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87302916 87318382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87302916 87330317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87303868 87309285 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87306494 87327262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 87309254 87330160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87310667 88827254 LOH Normal High-resolution SNP genotyping 21211785 BANP,C16orf95,CA5A,CTU2,CYBA,FBXO31,IL17C,JPH3,KLHDC4,MAP1LC3B,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZCCHC14,ZFPM1,ZNF469 chr16 87312524 87314368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87312524 87314368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87323757 87337492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C16orf95 chr16 87330709 87335327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87330709 87335327 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87330709 87335327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87335603 87335812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 87335703 87335822 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 87336676 87339657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C16orf95 chr16 87336676 87339657 Gain and loss Pancreatic cancer SNP array 17952125 C16orf95 chr16 87336676 87339657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C16orf95 chr16 87361995 88230730 LOH Normal High-resolution SNP genotyping 21211785 BANP,CA5A,FBXO31,JPH3,KLHDC4,MAP1LC3B,SLC7A5,ZCCHC14 chr16 87365878 87366044 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBXO31 chr16 87390134 87391080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBXO31 chr16 87397687 87403166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO31 chr16 87397687 87403166 Gain and loss Pancreatic cancer SNP array 17952125 FBXO31 chr16 87397687 87403166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO31 chr16 87399730 87454722 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 FBXO31,MAP1LC3B,ZCCHC14 chr16 87403378 87405843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO31 chr16 87403378 87405843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO31 chr16 87403380 87405879 Gain and loss Pancreatic cancer SNP array 17952125 FBXO31 chr16 87407644 87450885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO31,MAP1LC3B,ZCCHC14 chr16 87407644 87450885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO31,MAP1LC3B,ZCCHC14 chr16 87407650 87450864 Gain and loss Pancreatic cancer SNP array 17952125 FBXO31,MAP1LC3B,ZCCHC14 chr16 87419184 87419434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBXO31 chr16 87425144 87425719 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBXO31 chr16 87451007 87455020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC14 chr16 87451007 87455020 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC14 chr16 87451007 87455020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC14 chr16 87453490 87801384 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 JPH3,KLHDC4,ZCCHC14 chr16 87455812 88254372 Amplification Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 BANP,CA5A,JPH3,KLHDC4,SLC7A5,ZCCHC14 chr16 87457595 87460569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC14 chr16 87457595 87460569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC14 chr16 87459120 87491186 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZCCHC14 chr16 87468767 87570902 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ZCCHC14 chr16 87468767 87570902 Gain or loss Breast cancer - 20668451 ZCCHC14 chr16 87468767 87570902 Gain or loss Cancer - 20668451 ZCCHC14 chr16 87468767 87570902 Gain or loss Lung cancer - 20668451 ZCCHC14 chr16 87468767 87570902 Gain or loss Ovarian cancer - 20668451 ZCCHC14 chr16 87468767 87570902 Gain or loss Pancreas cancer - 20668451 ZCCHC14 chr16 87468767 87570902 Gain or loss Prostate cancer - 20668451 ZCCHC14 chr16 87468768 87570902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC14 chr16 87468768 87570902 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC14 chr16 87468768 87570902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC14 chr16 87498277 87498277 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ZCCHC14 chr16 87502855 87502955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZCCHC14 chr16 87523484 87524275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZCCHC14 chr16 87523855 87524442 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC14 chr1 68752646 68752940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87534050 87545433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87549438 87549931 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr16 87558875 88827254 LOH Normal High-resolution SNP genotyping 21211785 BANP,CA5A,CTU2,CYBA,IL17C,JPH3,KLHDC4,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZFPM1,ZNF469 chr16 87580066 88668978 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 BANP,CA5A,JPH3,KLHDC4,MIR5189,SLC7A5,ZC3H18,ZFPM1,ZNF469 chr16 87580427 88827254 LOH Normal High-resolution SNP genotyping 21211785 BANP,CA5A,CTU2,CYBA,IL17C,JPH3,KLHDC4,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZFPM1,ZNF469 chr16 87581199 87581299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 87627501 87675000 Copy number Normal ReadDepth: A Parallel R Package 21305028 JPH3 chr16 876547 876852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 87660862 87660953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 JPH3 chr16 87675001 87731500 Copy number Normal ReadDepth: A Parallel R Package 21305028 JPH3 chr16 87687754 87749670 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 JPH3,KLHDC4 chr16 87687792 87749670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JPH3,KLHDC4 chr16 87687792 87749670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JPH3,KLHDC4 chr16 87687825 87749670 Gain and loss Pancreatic cancer SNP array 17952125 JPH3,KLHDC4 chr16 87694595 87778383 Deletion Attention deficit hyperactivity disorder - 22138692 JPH3,KLHDC4 chr16 877001 883000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 87715878 87716151 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 JPH3 chr16 87719718 87719857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 JPH3 chr16 87731501 87740500 Copy number Normal ReadDepth: A Parallel R Package 21305028 JPH3 chr16 87740341 87740441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 87740501 87746000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHDC4 chr16 87741053 87741331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 87746001 87796500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHDC4 chr16 87753129 87757584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHDC4 chr16 87753129 87757584 Gain and loss Pancreatic cancer SNP array 17952125 KLHDC4 chr16 87753129 87757584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC4 chr16 87754284 87754374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLHDC4 chr16 87760292 87763056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC4 chr16 87765664 87789400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHDC4 chr16 87765664 87789400 Gain and loss Pancreatic cancer SNP array 17952125 KLHDC4 chr16 87765664 87789400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC4 chr16 87789672 87793725 Gain and loss Pancreatic cancer SNP array 17952125 KLHDC4 chr16 87789935 87794030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHDC4 chr16 87790168 87790248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLHDC4 chr16 87796501 87850000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHDC4 chr16 87811612 87822471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87811612 87822471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87811619 87822864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87822387 88827254 Substitutions and indels small cell lung cancer array-CGH 20016488 BANP,CA5A,CTU2,CYBA,IL17C,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SLC7A5,SNAI3,ZC3H18,ZFPM1,ZNF469 chr16 87826786 87828005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 87827474 87829903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87850001 87918000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC7A5 chr16 87861535 88084470 Copy number Gastric cancer Human cDNA microarrays 17229543 BANP,CA5A,SLC7A5 chr16 87861535 88084470 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 BANP,CA5A,SLC7A5 chr16 87861536 88084470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BANP,CA5A,SLC7A5 chr16 87861536 88084470 Gain and loss Pancreatic cancer SNP array 17952125 BANP,CA5A,SLC7A5 chr16 87861536 88084470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BANP,CA5A,SLC7A5 chr16 87862020 87862418 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 8789401 87765664 Copy number Autism exome sequencing 22495311 AARS,ABAT,ABCC1,ABCC11,ABCC12,ABCC6,ABCC6P1,ABCC6P2,ACD,ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ADAD2,ADAMTS18,ADAT1,ADCY7,AGRP,AHSP,AKTIP,ALDOA,AMFR,ANKRD26P1,ANKS4B,AP1G1,APOBR,AQP8,ARHGAP17,ARL2BP,ARL6IP1,ARMC5,ASPHD1,ATF7IP2,ATMIN,ATP2A1,ATP2C2,ATP6V0D1,ATXN1L,ATXN2L,B3GNT9,BBS2,BCAR1,BCAR4,BCKDK,BCL7C,BCMO1,BEAN1,BFAR,BOLA2,BOLA2B,BRD7,C16orf45,C16orf46,C16orf48,C16orf52,C16orf53,C16orf54,C16orf58,C16orf62,C16orf70,C16orf72,C16orf74,C16orf78,C16orf80,C16orf82,C16orf86,C16orf87,C16orf88,C16orf92,C16orf93,C16orf95,CA7,CACNG3,CALB2,CAPNS2,CARHSP1,CBFB,CBLN1,CCDC101,CCDC102A,CCDC113,CCDC135,CCDC79,CCL17,CCL22,CCP110,CD19,CD2BP2,CDH1,CDH11,CDH13,CDH16,CDH3,CDH5,CDH8,CDIPT,CDR2,CDYL2,CENPN,CENPT,CES1,CES1P1,CES1P2,CES2,CES3,CES4A,CES5A,CETP,CFDP1,CHD9,CHP2,CHST4,CHST5,CHST6,CHTF8,CIAPIN1,CIITA,CIRH1A,CKLF,CKLF-CMTM1,CLEC16A,CLEC18A,CLEC18B,CLEC18C,CLEC19A,CLEC3A,CLN3,CMC2,CMIP,CMTM1,CMTM2,CMTM3,CMTM4,CNEP1R1,CNGB1,CNOT1,CNTNAP4,COG4,COG7,COG8,COQ7,COQ9,CORO1A,COTL1,COX4I1,COX6A2,CPNE2,CPPED1,CRISPLD2,CRNDE,CRYM,CRYM-AS1,CSDAP1,CSNK2A2,CTCF,CTF1,CTRB1,CTRB2,CTRL,CX3CL1,CYB5B,CYLD,DCTN5,DCTPP1,DCUN1D3,DDX19A,DDX19B,DDX28,DEXI,DHODH,DHX38,DKFZP434H168,DNAAF1,DNAH3,DNAJA2,DOC2A,DOK4,DPEP2,DPEP3,DUS2L,DYNC1LI2,DYNLRB2,E2F4,EARS2,EDC4,EEF2K,EIF3C,EIF3CL,ELMO3,EMC8,EMP2,ERCC4,ERI2,ERN2,ESRP2,EXOC3L1,EXOSC6,FA2H,FAM18A,FAM192A,FAM57B,FAM65A,FAM92B,FAM96B,FBRS,FBXL19,FBXL19-AS1,FBXL8,FBXO31,FHOD1,FLJ21408,FLJ26245,FLJ30679,FOPNL,FOXC2,FOXF1,FOXF1-AS1,FOXL1,FTO,FTSJD1,FUK,FUS,GABARAPL2,GAN,GCSH,GDE1,GDPD3,GFOD2,GGA2,GINS2,GINS3,GLG1,GNAO1,GOT2,GP2,GPR114,GPR139,GPR56,GPR97,GPRC5B,GPT2,GRIN2A,GSG1L,GSPT1,GTF3C1,HAS3,HEATR3,HERC2P4,HERPUD1,HIRIP3,HP,HPR,HS3ST2,HS3ST4,HSBP1,HSD11B2,HSD17B2,HSD3B7,HSDL1,HSF4,HTA,HYDIN,IGSF6,IL21R,IL21R-AS1,IL27,IL34,IL4R,INO80E,IQCK,IRF8,IRX3,IRX5,IRX6,IST1,ITFG1,ITGAD,ITGAL,ITGAM,ITGAX,ITPRIPL2,JPH3,KARS,KAT8,KATNB1,KCNG4,KCTD13,KCTD19,KDM8,KIAA0182,KIAA0430,KIAA0513,KIAA0556,KIAA0664L3,KIAA0895L,KIAA1609,KIF22,KIFC3,KLHDC4,KLHL36,LAT,LCAT,LCMT1,LDHD,LINC00273,LINC00311,LITAF,LOC100129617,LOC100130700,LOC100130894,LOC100132247,LOC100190986,LOC100271836,LOC100289092,LOC100505619,LOC100505865,LOC100506060,LOC100506083,LOC100506172,LOC100506655,LOC100507577,LOC100862671,LOC146481,LOC146513,LOC283856,LOC283867,LOC283914,LOC283922,LOC388242,LOC388276,LOC390705,LOC400548,LOC440354,LOC440356,LOC554206,LOC595101,LOC606724,LOC613037,LOC613038,LOC643714,LOC643802,LOC644649,LOC653786,LOC729264,LOC730183,LOC732275,LOC81691,LONP2,LPCAT2,LRRC29,LRRC36,LYRM1,MAF,MAP1LC3B,MAPK3,MARVELD3,MAZ,MBTPS1,METTL9,MIR138-2,MIR140,MIR1538,MIR1910,MIR193B,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,MIR3182,MIR328,MIR365A,MIR3935,MIR4517,MIR4518,MIR4519,MIR4718,MIR4719,MIR4720,MIR4721,MIR484,MIR5093,MIR548AA2,MIR548AE2,MIR548D2,MIR548X,MIR762,MKL2,MLKL,MLYCD,MMP15,MMP2,MON1B,MPHOSPH6,MPV17L,MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A,MT3,MT4,MTHFSD,MTSS1L,MVP,MYH11,MYLK3,MYLPF,N4BP1,NAE1,NDE1,NDRG4,NDUFAB1,NECAB2,NETO2,NFAT5,NFATC2IP,NFATC3,NIP7,NKD1,NLRC5,NOB1,NOD2,NOL3,NOMO1,NOMO2,NOMO3,NPIP,NPIPL3,NQO1,NRN1L,NSMCE1,NTAN1,NUBP1,NUDT21,NUDT7,NUP93,NUPR1,NUTF2,OGFOD1,ORAI3,ORC6,OSGIN1,OTOA,PALB2,PAPD5,PARD6A,PARN,PDF,PDILT,PDP2,PDPR,PDXDC1,PDXDC2P,PDZD9,PHKB,PHKG2,PHLPP2,PKD1L2,PKD1L3,PKD1P1,PLA2G10,PLA2G15,PLCG2,PLEKHG4,PLK1,PLLP,PMFBP1,PMM2,POLR2C,POLR3E,PPP4C,PRKCB,PRM1,PRM2,PRM3,PRMT7,PRR14,PRRT2,PRSS36,PRSS53,PRSS54,PRSS8,PSKH1,PSMB10,PSMD7,PYCARD,PYDC1,QPRT,RABEP2,RANBP10,RBBP6,RBL2,RFWD3,RLTPR,RMI2,RNA5SP411,RNF40,RNU6-76,RPGRIP1L,RPS15A,RRAD,RRN3,RRN3P1,RRN3P2,RRN3P3,RSL1D1,RSPRY1,SALL1,SBK1,SCNN1B,SCNN1G,SDR42E1,SEPHS2,SEPT1,SETD1A,SETD6,SEZ6L2,SF3B3,SH2B1,SHCBP1,SHISA9,SIAH1,SLC12A3,SLC12A4,SLC38A7,SLC38A8,SLC5A11,SLC5A2,SLC6A10P,SLC6A2,SLC7A5P1,SLC7A5P2,SLC7A6,SLC7A6OS,SLC9A5,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SMG1,SMG1P1,SMPD3,SNN,SNORA30,SNORA46,SNORA50,SNORA70D,SNORD111,SNORD111B,SNORD71,SNTB2,SNX20,SNX29,SNX29P1,SNX29P2,SOCS1,SPN,SPNS1,SRCAP,ST3GAL2,STX1B,STX4,SULT1A1,SULT1A2,SULT1A3,SULT1A4,SYCE1L,SYT17,TAF1C,TAOK2,TAT,TBC1D10B,TBX6,TEKT5,TEPP,TERF2,TERF2IP,TGFB1I1,THAP11,THUMPD1,TK2,TMC5,TMC7,TMCO7,TMED6,TMEM159,TMEM170A,TMEM186,TMEM208,TMEM219,TMEM231,TNFRSF17,TNP2,TNRC6A,TOX3,TP53TG3,TP53TG3B,TP53TG3C,TPPP3,TRADD,TRIM72,TSNAXIP1,TUFM,TXNDC11,TXNL4B,UBE2MP1,UBFD1,UMOD,UQCRC2,USB1,USP10,USP31,USP7,VAC14,VAT1L,VKORC1,VPS35,VPS4A,VWA3A,WDR59,WFDC1,WWOX,WWP2,XPO6,XYLT1,YPEL3,ZC3H7A,ZCCHC14,ZDHHC1,ZDHHC7,ZFHX3,ZFP1,ZFP90,ZG16,ZKSCAN2,ZNF19,ZNF23,ZNF267,ZNF319,ZNF423,ZNF48,ZNF629,ZNF646,ZNF668,ZNF688,ZNF689,ZNF720,ZNF747,ZNF764,ZNF768,ZNF771,ZNF785,ZNF821,ZNF843,ZNRF1,ZP2 chr16 87918001 88129500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BANP,CA5A chr16 87919501 88060474 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BANP,CA5A chr16 8794033 8797492 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ABAT chr16 87965263 88055649 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 BANP,CA5A chr16 8796822 8798991 Deletion T-cell lymphomas Array-CGH 22341440 ABAT chr16 8796825 8798991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABAT chr16 8796825 8798991 Gain and loss Pancreatic cancer SNP array 17952125 ABAT chr16 8796825 8798991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABAT chr16 87970408 88179649 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BANP chr16 87979791 87979950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 87979791 87979950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 8799193 8850684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABAT chr16 8799193 8850684 Deletion T-cell lymphomas Array-CGH 22341440 ABAT chr16 8799193 8850684 Gain and loss Pancreatic cancer SNP array 17952125 ABAT chr16 8799193 8850684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABAT chr16 87999533 87999771 Deletion Ewing's sarcoma Array CGH 19144156 BANP chr16 8803181 9120496 Gain Autism 1M Ailent CGH whole-genome array 21865298 ABAT,CARHSP1,PMM2,TMEM186,USP7 chr16 88037227 88037333 Gain and loss Pancreatic cancer SNP array 17952125 BANP chr16 880582 913386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMF1 chr16 88091927 88094569 Loss Normal 244K array 17666407 BANP chr16 88097122 88097688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BANP chr16 88102305 88151675 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BANP chr16 88102306 88151674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BANP chr16 88102306 88151674 Gain and loss Pancreatic cancer SNP array 17952125 BANP chr16 88102306 88151674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BANP chr16 88110635 88110694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BANP chr16 88129501 88133000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 88133001 88154000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 88154001 88246500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 88154591 88157349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88154591 88157349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88154595 88158450 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88155343 88155426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88155343 88155426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88165556 88165610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 88169676 88191154 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 88169677 88191155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88169677 88191155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88169677 88191155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88179776 88242083 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88181462 88187850 Gain Normal 244K array 17666407 NOT_FOUND chr16 88181626 88182072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 88195590 88222426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 88205469 88827254 LOH Normal High-resolution SNP genotyping 21211785 CTU2,CYBA,IL17C,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SNAI3,ZC3H18,ZFPM1,ZNF469 chr16 88214449 88827254 LOH Normal High-resolution SNP genotyping 21211785 CTU2,CYBA,IL17C,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SNAI3,ZC3H18,ZFPM1,ZNF469 chr16 88214501 88232338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88214501 88232365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88214501 88232365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88227785 88234659 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 88231395 88827254 LOH Normal High-resolution SNP genotyping 21211785 CTU2,CYBA,IL17C,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SNAI3,ZC3H18,ZFPM1,ZNF469 chr16 88238346 88251712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88238347 88251524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88238347 88251524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88243042 88243106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 88246501 88280000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 88251711 88265176 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88251711 88265181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88251711 88265181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88265560 88265648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 88280001 88318500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 88280577 88290260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88280577 88290260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88280579 88290262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88290258 88295614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88290267 88295614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88290267 88295614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88295293 88827254 LOH Normal High-resolution SNP genotyping 21211785 CTU2,CYBA,IL17C,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SNAI3,ZC3H18,ZFPM1,ZNF469 chr16 883001 964500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LMF1 chr16 88301041 88314895 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr16 88301042 88314895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88301042 88314895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88304528 88313201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88307558 88340610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 88314934 88333811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88314934 88333811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88314934 88333811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88318501 88420000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 88326598 88326828 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 88326601 88326894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 88331459 88410566 Gain or loss Breast cancer - 20668451 NOT_FOUND chr16 88331459 88410566 Gain or loss Cancer - 20668451 NOT_FOUND chr16 88331459 88410566 Gain or loss Lung cancer - 20668451 NOT_FOUND chr16 88331459 88410566 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr16 88331459 88410566 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr16 88331459 88410566 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr16 88331460 88410561 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 88331460 88410566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88331460 88410566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88339247 88339702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 88398233 88495450 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZNF469 chr16 88420001 88495000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF469 chr16 88422408 88465228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88422408 88465228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88423559 88425891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 88424470 88425844 Loss Normal 244K array 17666407 NOT_FOUND chr16 88436931 88827254 Deletion Cancer Affymetrix 250K Sty array 20164920 CTU2,CYBA,IL17C,MGC23284,MIR4722,MIR5189,MVD,PIEZO1,RNF166,SNAI3,ZC3H18,ZFPM1,ZNF469 chr1 68846549 68847630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 88467520 88505287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF469 chr16 88467520 88505287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF469 chr16 88488908 88488988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 88495001 88519000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF469 chr16 88495324 88496634 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF469 chr16 88501 149500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MPG,NPRL3,POLR3K,RHBDF1,SNRNP25 chr16 88508026 88510383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88513168 88530006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88513168 88530006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88519001 88593500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR5189,ZFPM1 chr16 88528813 88528923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88542684 88561968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88542684 88561968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 8854303 8870364 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABAT chr16 8854303 8870364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABAT chr16 8856001 8891500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABAT,TMEM186 chr16 8856271 8860694 Deletion T-cell lymphomas Array-CGH 22341440 ABAT chr16 8856279 8870367 Gain and loss Pancreatic cancer SNP array 17952125 ABAT chr16 88564018 88564383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88565268 88565809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88566489 88594696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88566489 88594696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88576334 88576412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFPM1 chr16 88593501 88607000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZFPM1 chr16 88598782 88613438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88598782 88613438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFPM1 chr16 88607001 88641500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZC3H18 chr16 88616509 88638880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZC3H18 chr16 88616509 88638880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H18 chr16 88616964 88815036 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CTU2,CYBA,IL17C,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3,ZC3H18 chr16 88622898 88623251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88622898 88623251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88633670 88641534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H18 chr16 88636292 88636356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 88637496 88648505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZC3H18 chr16 88641501 88827254 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTU2,CYBA,IL17C,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3,ZC3H18 chr16 88645830 88682594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZC3H18 chr16 88650475 88669839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZC3H18 chr16 88650475 88669839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H18 chr16 88659868 88659968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H18 chr16 88660778 88660878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H18 chr16 88686678 88787634 Amplification Breast cancer Array CGH 17440070 CTU2,CYBA,IL17C,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3,ZC3H18 chr16 88686678 88787634 Deletion Cancer Array CGH 17440070 CTU2,CYBA,IL17C,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3,ZC3H18 chr16 88689140 88689229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H18 chr16 88689218 88689322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H18 chr16 88689218 88689328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H18 chr16 88700000 90354753 Copy number Fanconi anemia References 19566914 ACSF3,AFG3L1P,ANKRD11,APRT,C16orf3,C16orf55,C16orf7,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,CPNE7,CTU2,CYBA,DBNDD1,DEF8,DPEP1,FANCA,GALNS,GAS8,IL17C,LINC00304,LOC100128881,LOC100130015,LOC100287036,LOC400558,MC1R,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TRAPPC2L,TUBB3,ZNF276,ZNF778 chr16 88700000 90354753 Gain Basal cell lymphoma Array CGH 19029149 ACSF3,AFG3L1P,ANKRD11,APRT,C16orf3,C16orf55,C16orf7,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,CPNE7,CTU2,CYBA,DBNDD1,DEF8,DPEP1,FANCA,GALNS,GAS8,IL17C,LINC00304,LOC100128881,LOC100130015,LOC100287036,LOC400558,MC1R,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TRAPPC2L,TUBB3,ZNF276,ZNF778 chr16 88700000 90354753 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACSF3,AFG3L1P,ANKRD11,APRT,C16orf3,C16orf55,C16orf7,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,CPNE7,CTU2,CYBA,DBNDD1,DEF8,DPEP1,FANCA,GALNS,GAS8,IL17C,LINC00304,LOC100128881,LOC100130015,LOC100287036,LOC400558,MC1R,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TRAPPC2L,TUBB3,ZNF276,ZNF778 chr16 88700000 90354753 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACSF3,AFG3L1P,ANKRD11,APRT,C16orf3,C16orf55,C16orf7,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,CPNE7,CTU2,CYBA,DBNDD1,DEF8,DPEP1,FANCA,GALNS,GAS8,IL17C,LINC00304,LOC100128881,LOC100130015,LOC100287036,LOC400558,MC1R,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TRAPPC2L,TUBB3,ZNF276,ZNF778 chr16 88700000 90354753 Gain Diffuse large b-cell lymphoma Array CGH 19029149 ACSF3,AFG3L1P,ANKRD11,APRT,C16orf3,C16orf55,C16orf7,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,CPNE7,CTU2,CYBA,DBNDD1,DEF8,DPEP1,FANCA,GALNS,GAS8,IL17C,LINC00304,LOC100128881,LOC100130015,LOC100287036,LOC400558,MC1R,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TRAPPC2L,TUBB3,ZNF276,ZNF778 chr16 88700000 90354753 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACSF3,AFG3L1P,ANKRD11,APRT,C16orf3,C16orf55,C16orf7,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,CPNE7,CTU2,CYBA,DBNDD1,DEF8,DPEP1,FANCA,GALNS,GAS8,IL17C,LINC00304,LOC100128881,LOC100130015,LOC100287036,LOC400558,MC1R,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TRAPPC2L,TUBB3,ZNF276,ZNF778 chr16 88700000 90354753 Loss and deletion Multiple myeloma Array CGH 16616336 ACSF3,AFG3L1P,ANKRD11,APRT,C16orf3,C16orf55,C16orf7,CBFA2T3,CDH15,CDK10,CDT1,CENPBD1,CHMP1A,CPNE7,CTU2,CYBA,DBNDD1,DEF8,DPEP1,FANCA,GALNS,GAS8,IL17C,LINC00304,LOC100128881,LOC100130015,LOC100287036,LOC400558,MC1R,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,PRDM7,RNF166,RPL13,SLC22A31,SNAI3,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TRAPPC2L,TUBB3,ZNF276,ZNF778 chr16 88708363 88708427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 88710165 88710265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYBA chr16 88713000 88762000 Duplication Non-syndromic sensorineural hearing loss References 19212409 CYBA,MGC23284,MVD,SNAI3 chr16 88738501 88738604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGC23284 chr16 88738502 88738604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGC23284 chr16 88765087 88765147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF166 chr16 88810354 88810454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIEZO1 chr16 88829839 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 8883567 8886653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 88837952 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 6888501 6991500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr16 8893451 8964842 Gain or loss Breast cancer - 20668451 CARHSP1,PMM2 chr16 8893451 8964842 Gain or loss Cancer - 20668451 CARHSP1,PMM2 chr16 8893451 8964842 Gain or loss Lung cancer - 20668451 CARHSP1,PMM2 chr16 8893451 8964842 Gain or loss Ovarian cancer - 20668451 CARHSP1,PMM2 chr16 8893451 8964842 Gain or loss Pancreas cancer - 20668451 CARHSP1,PMM2 chr16 8893451 8964842 Gain or loss Prostate cancer - 20668451 CARHSP1,PMM2 chr16 8893452 8964842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARHSP1,PMM2 chr16 8893452 8964842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARHSP1,PMM2 chr16 8894851 8964842 Deletion T-cell lymphomas Array-CGH 22341440 CARHSP1,PMM2 chr16 8894851 8964842 Gain and loss Pancreatic cancer SNP array 17952125 CARHSP1,PMM2 chr16 88949646 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 88963784 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 88981057 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 68898883 68898983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPE65 chr16 89299100 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 89320592 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 89349701 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 894170 910605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMF1 chr16 89609369 89626818 Amplification Breast cancer Array CGH 17440070 SPG7 chr16 89609369 89626818 Deletion Cancer Array CGH 17440070 SPG7 chr16 8964174 8965275 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr16 89647671 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 89663258 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 89669542 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 89672567 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 8969708 8969708 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr16 8969708 8969708 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr16 89719070 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 89750449 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 89979701 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 90039525 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 90058130 88827254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr16 9020842 9141963 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 USP7 chr16 9046621 9091522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USP7 chr16 9052484 9052584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP7 chr1 69055237 69055321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 9086079 9086204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 9086079 9086204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 69090742 69090842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 9093038 9121037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 9093038 9121037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 9093038 9121055 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 9093038 9121056 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr16 9094715 9094918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 9126202 9171928 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 69131074 69131150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 9157757 9158239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 9157971 9158239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 69174362 69174436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 9187194 9187274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C16orf72 chr16 919651 1081992 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LMF1,SOX8 chr16 919651 1111069 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LMF1,SOX8 chr16 919651 1111069 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LMF1,SOX8 chr1 69200000 70700000 Amplification Lung cancer aCGH 21911935 LRRC40,LRRC7,PIN1P1,SRSF11 chr16 923425 944273 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LMF1 chr16 9234501 10297100 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRIN2A,MIR548X chr16 924545 948579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMF1 chr16 9272701 9792528 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR548X chr16 9272877 9272977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 9292472 9318263 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr16 933903 944701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMF1 chr1 69348525 69348625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69360736 69395648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 9361448 9361548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 9364378 9364462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69399248 69444246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 9404001 9404101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 6942565 6942642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr1 69426046 69426146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 94345 1693333 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGDIG,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf91,C1QTNF8,CACNA1H,CCDC154,CCDC78,CHTF18,CLCN7,CRAMP1L,DECR2,FAM173A,FAM195A,FBXL16,GNG13,GNPTG,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,IFT140,ITFG3,JMJD8,LINC00235,LMF1,LOC100134368,LUC7L,METRN,MIR3176,MIR5587,MIR662,MPG,MRPL28,MSLN,NARFL,NHLRC4,NME4,NPRL3,PDIA2,PIGQ,POLR3K,PRR25,PTX4,RAB11FIP3,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RPUSD1,SNRNP25,SOLH,SOX8,SSTR5,SSTR5-AS1,STUB1,TELO2,TMEM204,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL,WDR24,WDR90,WFIKKN1 chr1 69449758 69449858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 946346 947315 Loss Normal 244K array 17666407 LMF1 chr1 69465557 69510654 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 9473575 10344522 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GRIN2A chr1 69490419 69490519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69500000 247249719 Gain Medulloblastoma SNP arrays 21979893 ABCA4,ABCB10,ABCD3,ABL2,ACADM,ACBD3,ACBD6,ACP6,ACTA1,ACTG1P4,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADSS,AGL,AGT,AHCTF1,AHCYL1,AIDA,AIM2,AK5,AKNAD1,AKR7A2P1,AKT3,ALDH9A1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANKRD13C,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASB17,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V1G3,ATP8B2,ATXN7L2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BARHL2,BATF3,BCAN,BCAR3,BCAS2,BCL10,BCL2L15,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BRDT,BROX,BTBD8,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf146,C1orf162,C1orf173,C1orf180,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf52,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf88,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CAPZA1,CASQ1,CASQ2,CCBL2,CCDC18,CCDC19,CCSAP,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD53,CD55,CD58,CD5L,CD84,CDC14A,CDC42BPA,CDC42SE1,CDC7,CDC73,CDK18,CELF3,CELSR2,CENPF,CENPL,CEP170,CEP350,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLK2,CNIH3,CNIH4,CNN3,CNST,CNTN2,COG2,COL11A1,COL24A1,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CRYZ,CSDE1,CSF1,CSRP1,CTBS,CTH,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYCSP52,CYMP,CYR61,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCLRE1B,DCST1,DCST2,DDAH1,DDR2,DDX20,DDX59,DEDD,DEGS1,DENND1B,DENND2C,DENND2D,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNAJA1P5,DNAJB4,DNASE2B,DNM3,DNM3OS,DNTTIP2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,ELTD1,EMBP1,ENAH,ENSA,EPHX1,EPHX4,EPRS,EPS8L3,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXTL2,F11R,F13B,F3,F5,FAIM3,FAM102B,FAM129A,FAM163A,FAM177B,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM46C,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM73A,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ27354,FLJ31662,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GGPS1,GIPC2,GJA5,GJA8,GJC2,GLMN,GLRX2,GLT25D2,GLUL,GM140,GNAI3,GNAT2,GNG4,GNG5,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GREM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HENMT1,HFE2,HFM1,HHAT,HHIPL2,HHLA3,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HMGCS2,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HS2ST1,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSP90B3P,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IFI44,IFI44L,IGFN1,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX8,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMO4,LMOD1,LMX1A,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505768,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339524,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC645166,LOC646268,LOC646626,LOC653513,LOC728463,LOC728875,LOC728989,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPAR3,LPGAT1,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC40,LRRC52,LRRC7,LRRC71,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAB21L3,MAEL,MAGI3,MAN1A2,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MCOLN2,MCOLN3,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGC27382,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR186,MIR190B,MIR194-1,MIR197,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR3620,MIR3658,MIR4256,MIR4257,MIR4258,MIR4260,MIR4423,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548AP,MIR548D1,MIR548F1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR664,MIR760,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MLLT11,MNDA,MOV10,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSH4,MSTO1,MSTO2P,MTF2,MTMR11,MTR,MTX1,MUC1,MYBPH,MYBPHL,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEGR1,NEGR1-IT1,NEK2,NEK7,NENF,NES,NEXN,NFASC,NGF,NHLH1,NHLH2,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NRAS,NSL1,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,ODF2L,OLFM3,OLFML2B,OLFML3,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PALMD,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGLYRP3,PGLYRP4,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGK,PIGM,PIGR,PIK3C2B,PIN1P1,PIP5K1A,PKLR,PKN2,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PRKACB,PRMT6,PROK1,PROX1,PRPF3,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB4,PSMD4,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTGS2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABGGTB,RABIF,RALGPS2,RAP1A,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM15,RBM34,RBM8A,RBMXL1,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOC,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPC3,RNPEP,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,RORC,RP11-165H20.1,RPAP2,RPF1,RPL31P11,RPL5,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RSBN1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S1PR1,SAMD13,SARS,SASS6,SCAMP3,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SEP15,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SH3GLB1,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC22A15,SLC25A24,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC30A7,SLC35A3,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC44A5,SLC45A3,SLC50A1,SLC6A17,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA66,SNORA77,SNORD21,SNORD44,SNORD45A,SNORD45B,SNORD45C,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRG7,SRGAP2,SRGAP2B,SRP9,SRSF11,SSR2,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYDE2,SYPL2,SYT11,SYT14,SYT2,SYT6,TADA1,TAF13,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX15,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,TGFBR3,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMED5,TMEM167B,TMEM183A,TMEM183B,TMEM206,TMEM56,TMEM56-RWDD3,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNI3K,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM67,TRMT13,TRMT1L,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN2,TSTD1,TTC13,TTC24,TTF2,TTLL7,TUFT1,TXNIP,TYW3,UAP1,UBAP2L,UBE2Q1,UBE2T,UBL4B,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,UOX,URB2,USF1,USH2A,USP21,USP33,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR26,WDR3,WDR47,WDR63,WDR64,WDR77,WNT2B,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF326,ZNF644,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF697,ZNF847P,ZNHIT6,ZP4,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 84700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 84700000 Copy number Normal - 21701786 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 84700000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 84700000 Deletion Poland's syndrome Agilent Human Genome CGH Microarray Kit44B 22110015 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 84700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 84700000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 84700000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 88100000 Deletion Medulloblastoma SNP arrays 21979893 ACADM,AK5,ANKRD13C,ASB17,BCL10,C1orf173,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DNAJB4,DNASE2B,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,GNG5,HHLA3,HS2ST1,IFI44,IFI44L,LHX8,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,LPHN2,LRRC40,LRRC7,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR186,MIR4423,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,ODF2L,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RPF1,SAMD13,SEP15,SH3GLB1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 88100000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ACADM,AK5,ANKRD13C,ASB17,BCL10,C1orf173,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DNAJB4,DNASE2B,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,GNG5,HHLA3,HS2ST1,IFI44,IFI44L,LHX8,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,LPHN2,LRRC40,LRRC7,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR186,MIR4423,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,ODF2L,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RPF1,SAMD13,SEP15,SH3GLB1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69500000 99400000 Loss Glioblastoma multiforme aCGH 21080181 ABCA4,ABCD3,ACADM,AK5,ALG14,ANKRD13C,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DNAJB4,DNASE2B,DNTTIP2,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG5,GTF2B,HFM1,HHLA3,HS2ST1,HSP90B3P,IFI44,IFI44L,KIAA1107,LHX8,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR5,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR186,MIR2682,MIR4423,MIR548AP,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,ODF2L,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RBMXL1,RPAP2,RPF1,RPL5,RWDD3,SAMD13,SEP15,SH3GLB1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69513059 69558875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 69547501 69547601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69552025 70380720 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRRC7 chr1 69553001 69554500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr16 9565748 9565855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 9565748 9565855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr16 9565767 9565855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 9578806 9578944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69579581 69579899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 9589804 9589904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 9601447 9601542 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr16 9601447 9601542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 69606376 69617239 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr16 9621049 9622049 Loss Osteosarcoma References 21215367 NOT_FOUND chr16 964501 1256000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1QTNF8,CACNA1H,LMF1,SOX8,SSTR5,SSTR5-AS1 chr1 69652122 69652222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69653630 69653730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr16 965984 1484303 Copy number Normal - 20703242 BAIAP3,C16orf91,C1QTNF8,CACNA1H,GNPTG,LMF1,SOX8,SSTR5,SSTR5-AS1,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL chr16 9681332 9683152 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr16 9686526 9686621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 696962 708526 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100288069 chr1 696962 803181 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LINC00115,LOC100288069,LOC643837 chr16 969913 1834962 Gain Normal Illumina 300K SNP 19997636 BAIAP3,C16orf91,C1QTNF8,CACNA1H,CCDC154,CLCN7,CRAMP1L,EME2,GNPTG,HN1L,IFT140,LMF1,MAPK8IP3,MIR3177,MRPS34,NME3,NUBP2,PTX4,SOX8,SPSB3,SSTR5,SSTR5-AS1,TELO2,TMEM204,TPSAB1,TPSB2,TPSD1,TPSG1,TSR3,UBE2I,UNKL chr1 69700000 116100000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABCA4,ABCD3,ACADM,ACTG1P4,ADORA3,AGL,AHCYL1,AK5,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANKRD13C,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf173,C1orf180,C1orf194,C1orf52,C1orf88,CAPZA1,CCBL2,CCDC18,CD53,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CSDE1,CSF1,CTBS,CTH,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HENMT1,HFM1,HHLA3,HIAT1,HIPK1,HS2ST1,HSP90B3P,IFI44,IFI44L,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAGI3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR4256,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MOV10,MSH4,MTF2,MYBPHL,NBPF4,NBPF6,NEGR1,NEGR1-IT1,NEXN,NGF,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHTF1,PIGK,PIN1P1,PKN2,PPM1J,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGER3,PTGFR,PTPN22,RABGGTB,RAP1A,RBM15,RBMXL1,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SRG7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TAF13,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TNNI3K,TRIM33,TRMT13,TSHB,TSPAN2,TTLL7,TYW3,UBL4B,UOX,USP33,VAV3,VAV3-AS1,VCAM1,WDR47,WDR63,WDR77,WNT2B,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 116100000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABCA4,ABCD3,ACADM,ACTG1P4,ADORA3,AGL,AHCYL1,AK5,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANKRD13C,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf173,C1orf180,C1orf194,C1orf52,C1orf88,CAPZA1,CCBL2,CCDC18,CD53,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CSDE1,CSF1,CTBS,CTH,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HENMT1,HFM1,HHLA3,HIAT1,HIPK1,HS2ST1,HSP90B3P,IFI44,IFI44L,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAGI3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR4256,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MOV10,MSH4,MTF2,MYBPHL,NBPF4,NBPF6,NEGR1,NEGR1-IT1,NEXN,NGF,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHTF1,PIGK,PIN1P1,PKN2,PPM1J,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGER3,PTGFR,PTPN22,RABGGTB,RAP1A,RBM15,RBMXL1,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SRG7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TAF13,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TNNI3K,TRIM33,TRMT13,TSHB,TSPAN2,TTLL7,TYW3,UBL4B,UOX,USP33,VAV3,VAV3-AS1,VCAM1,WDR47,WDR63,WDR77,WNT2B,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 120600000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABCA4,ABCD3,ACADM,ACTG1P4,ADAM30,ADORA3,AGL,AHCYL1,AK5,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANKRD13C,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf173,C1orf180,C1orf194,C1orf52,C1orf88,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CSDE1,CSF1,CTBS,CTH,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HENMT1,HFM1,HHLA3,HIAT1,HIPK1,HMGCS2,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSP90B3P,IFI44,IFI44L,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LHX8,LINC00622,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAB21L3,MAGI3,MAN1A2,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR320B1,MIR4256,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR942,MOV10,MSH4,MTF2,MYBPHL,NBPF4,NBPF6,NBPF7,NEGR1,NEGR1-IT1,NEXN,NGF,NHLH2,NOTCH2,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHGDH,PHTF1,PIGK,PIN1P1,PKN2,PPM1J,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTPN22,RABGGTB,RAP1A,RBM15,RBMXL1,REG4,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SPAG17,SRG7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TAF13,TBX15,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TNNI3K,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,TTLL7,TYW3,UBL4B,UOX,USP33,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR77,WNT2B,ZNF326,ZNF644,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 120600000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABCA4,ABCD3,ACADM,ACTG1P4,ADAM30,ADORA3,AGL,AHCYL1,AK5,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANKRD13C,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf173,C1orf180,C1orf194,C1orf52,C1orf88,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CSDE1,CSF1,CTBS,CTH,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HENMT1,HFM1,HHLA3,HIAT1,HIPK1,HMGCS2,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSP90B3P,IFI44,IFI44L,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LHX8,LINC00622,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAB21L3,MAGI3,MAN1A2,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR186,MIR197,MIR2682,MIR320B1,MIR4256,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR942,MOV10,MSH4,MTF2,MYBPHL,NBPF4,NBPF6,NBPF7,NEGR1,NEGR1-IT1,NEXN,NGF,NHLH2,NOTCH2,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHGDH,PHTF1,PIGK,PIN1P1,PKN2,PPM1J,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGER3,PTGFR,PTGFRN,PTPN22,RABGGTB,RAP1A,RBM15,RBMXL1,REG4,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SPAG17,SRG7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TAF13,TBX15,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TNNI3K,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,TTLL7,TYW3,UBL4B,UOX,USP33,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR77,WNT2B,ZNF326,ZNF644,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 84900000 Copy number Effusion lymphoma Real-time QPCR 18079361 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,DNASE2B,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SAMD13,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,UOX,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 84900000 Loss Breast cancer Microarray-based CGH 17133270 ACADM,AK5,ANKRD13C,ASB17,C1orf173,CRYZ,CTH,DNAJB4,DNASE2B,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,HHLA3,IFI44,IFI44L,LHX8,LPHN2,LRRC40,LRRC7,LRRIQ3,MGC27382,MIR186,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,SAMD13,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,ST6GALNAC3,ST6GALNAC5,TNNI3K,TTLL7,TYW3,UOX,USP33,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 88400000 Copy number Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 ACADM,AK5,ANKRD13C,ASB17,BCL10,C1orf173,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DNAJB4,DNASE2B,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,GNG5,HHLA3,HS2ST1,IFI44,IFI44L,LHX8,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,LPHN2,LRRC40,LRRC7,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR186,MIR4423,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,ODF2L,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RPF1,SAMD13,SEP15,SH3GLB1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 88400000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ACADM,AK5,ANKRD13C,ASB17,BCL10,C1orf173,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DNAJB4,DNASE2B,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,GNG5,HHLA3,HS2ST1,IFI44,IFI44L,LHX8,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,LPHN2,LRRC40,LRRC7,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR186,MIR4423,MIR548AP,MSH4,NEGR1,NEGR1-IT1,NEXN,ODF2L,PIGK,PIN1P1,PRKACB,PTGER3,PTGFR,RABGGTB,RPF1,SAMD13,SEP15,SH3GLB1,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 99700000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCA4,ABCD3,ACADM,AK5,ALG14,ANKRD13C,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DNAJB4,DNASE2B,DNTTIP2,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG5,GTF2B,HFM1,HHLA3,HS2ST1,HSP90B3P,IFI44,IFI44L,KIAA1107,LHX8,LMO4,LOC100129046,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR5,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR186,MIR2682,MIR4423,MIR548AP,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,ODF2L,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RBMXL1,RPAP2,RPF1,RPL5,RWDD3,SAMD13,SEP15,SH3GLB1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69700000 99700000 Loss Breast cancer Microarray-based CGH 17133270 ABCA4,ABCD3,ACADM,AK5,ALG14,ANKRD13C,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CRYZ,CTBS,CTH,CYR61,DDAH1,DNAJB4,DNASE2B,DNTTIP2,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG5,GTF2B,HFM1,HHLA3,HS2ST1,HSP90B3P,IFI44,IFI44L,KIAA1107,LHX8,LMO4,LOC100129046,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR5,LRRC40,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR186,MIR2682,MIR4423,MIR548AP,MIR760,MSH4,MTF2,NEGR1,NEGR1-IT1,NEXN,ODF2L,PIGK,PIN1P1,PKN2,PRKACB,PTBP2,PTGER3,PTGFR,RABGGTB,RBMXL1,RPAP2,RPF1,RPL5,RWDD3,SAMD13,SEP15,SH3GLB1,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRSF11,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,ZNF326,ZNF644,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZZZ3 chr1 69716304 69716609 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr16 971809 976979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMF1 chr16 971809 976979 Gain and loss Pancreatic cancer SNP array 17952125 LMF1 chr16 971809 976979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMF1 chr16 9754762 10184112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIN2A chr16 9754762 10184112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIN2A chr16 9762923 10184112 Deletion T-cell lymphomas Array-CGH 22341440 GRIN2A chr16 9764507 10181769 Gain and loss Pancreatic cancer SNP array 17952125 GRIN2A chr1 69768979 69775290 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr16 977036 979156 Gain and loss Pancreatic cancer SNP array 17952125 LMF1 chr16 9775299 9775369 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr16 979471 1055445 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 LMF1,SOX8 chr16 9796884 9796968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69799912 69800270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 69806669 70361755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC7 chr1 69806669 70361755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC7 chr16 981149 990927 Gain and loss Pancreatic cancer SNP array 17952125 LMF1 chr1 69821862 69821962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69826501 69826538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69856086 70301185 Gain and loss Pancreatic cancer SNP array 17952125 LRRC7 chr16 9892974 9893067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2A chr16 99075401 88827254 Deletion Glioma mate-paired sequence 20126413 chr1 6991501 6993000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr1 6993001 7371000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr16 9930139 10035574 Gain Stenocardia MACArray Karyo 79K BAC-chips 21860640 GRIN2A chr16 9930139 10035574 Gain Vasospasm MACArray Karyo 79K BAC-chips 21860640 GRIN2A chr16 994046 997024 Gain and loss Pancreatic cancer SNP array 17952125 LMF1 chr16 9946464 9946554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIN2A chr16 9968477 10165051 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GRIN2A chr16 9968477 10165051 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GRIN2A chr16 997495 1027569 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMF1 chr1 69982518 69982618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 69993021 69993114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 70057295 70057528 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 70090957 70091046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 70091070 70091261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 70093371 70093552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 70093548 70093738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 0 0 Amplicon Cervical cancer array CGH 21063398 NOT_FOUND chr17 0 0 Gain Cervical cancer array CGH 21063398 NOT_FOUND chr17 0 0 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 0 0 Gain or loss Cancer - 20668451 NOT_FOUND chr17 0 0 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 0 0 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 0 0 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 0 0 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 70117861 70118165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 70117862 70118095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 70205705 70205805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 70212740 70212840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 70219028 70219128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 70283792 70283890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC7 chr1 70322518 70383296 Gain and loss Pancreatic cancer SNP array 17952125 LRRC7 chr1 70357848 70358143 Gain and loss Pancreatic cancer SNP array 17952125 LRRC7 chr1 70377190 70409021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC7,PIN1P1 chr1 70383085 70443863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC7,PIN1P1 chr1 70383085 70443863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC7,PIN1P1 chr1 70383386 70429705 Gain and loss Pancreatic cancer SNP array 17952125 LRRC7,PIN1P1 chr1 7040000 7830000 Loss Breast cancer aCGH 21509527 CAMTA1 chr1 70418415 70418710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC7 chr1 70418417 70418711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC7 chr1 70420801 70422802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC7 chr1 70438941 70532438 Gain and loss Pancreatic cancer SNP array 17952125 LRRC7 chr1 7044268 7046030 Gain and loss Pancreatic cancer SNP array 17952125 CAMTA1 chr1 70443953 70502757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC7 chr1 70443953 70502757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC7 chr1 70485139 70485139 Copy number Prostate cancer Illumina GA II sequencer 21307934 LRRC7 chr1 70500138 70592993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC7 chr1 70500138 70592993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC7 chr1 70532656 70545432 Gain and loss Pancreatic cancer SNP array 17952125 LRRC7 chr1 70540700 70541022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC7 chr1 70588976 70617273 Gain and loss Pancreatic cancer SNP array 17952125 LRRC40,LRRC7 chr1 70593081 70606291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 70593081 70606291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 70649465 70649565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC40 chr1 70649543 70677840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC40,SRSF11 chr1 70649543 70677840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC40,SRSF11 chr1 70656231 70656231 Copy number Prostate cancer Illumina GA II sequencer 21307934 LRRC40 chr1 7066977 7067071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr1 70701043 70701138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRSF11 chr1 70708230 70709084 Gain and loss Pancreatic cancer SNP array 17952125 SRSF11 chr1 70711146 75581176 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD13C,C1orf173,CRYZ,CTH,FPGT,FPGT-TNNI3K,HHLA3,LRRIQ3,MIR186,NEGR1,NEGR1-IT1,PTGER3,SRSF11,TNNI3K,TYW3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr1 70718778 70719108 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 70756217 70756334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD13C chr1 70768425 70768525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD13C chr1 70768797 70769213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD13C chr1 70817066 70841683 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD13C,HHLA3 chr1 7082373 7082442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr1 70828457 72536874 LOH Normal High-resolution SNP genotyping 21211785 CTH,HHLA3,MIR186,NEGR1,NEGR1-IT1,PTGER3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr1 70829622 70846509 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HHLA3 chr1 70833840 70836579 Loss Normal 244K array 17666407 NOT_FOUND chr1 70841392 72055932 LOH Normal High-resolution SNP genotyping 21211785 CTH,MIR186,NEGR1,PTGER3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr1 70850104 72058901 LOH Normal High-resolution SNP genotyping 21211785 CTH,MIR186,NEGR1,PTGER3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr1 708526 730720 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100288069 chr1 70898936 70899536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTH chr1 70901720 70902020 Loss Chordoma References 21215367 CTH chr1 70921387 70921635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 70998381 70998681 Loss Chordoma References 21215367 NOT_FOUND chr17 1000000 19800000 Gain Acute myeloid leukemia BAC Array CGH 17237825 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr1 7100000 16100000 Copy number Normal - 21701786 AADACL3,AADACL4,AGMAT,AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf126,C1orf127,C1orf158,C1orf200,CA6,CAMTA1,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC16,DRAXIN,EFHD2,ENO1,ENO1-AS1,ERRFI1,EXOSC10,FBLIM1,FBXO2,FBXO44,FBXO6,FHAD1,GPR157,H6PD,HNRNPCL1,KAZN,KIAA2013,KIF1B,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PARK7,PDPN,PER3,PEX14,PGD,PIK3CD,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RERE,RSC1A1,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF8,TNFRSF9,UBE4B,UBIAD1,UTS2,VAMP3,VPS13D chr1 7100000 27800000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 AADACL3,AADACL4,ACTL8,AGMAT,AGTRAP,AIM1L,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF19,ARID1A,ASAP3,ATP13A2,AUNIP,C1QA,C1QB,C1QC,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf172,C1orf200,C1orf213,C1orf63,C1orf64,CA6,CAMK2N1,CAMTA1,CAPZB,CASP9,CASZ1,CATSPER4,CD164L2,CD52,CDA,CDC42,CELA2A,CELA2B,CELA3A,CELA3B,CEP85,CLCN6,CLCNKA,CLCNKB,CLIC4,CLSTN1,CNKSR1,CNR2,CORT,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DDOST,DFFA,DHDDS,DHRS3,DNAJC16,DRAXIN,E2F2,ECE1,EFHD2,EIF4G3,EMC1,ENO1,ENO1-AS1,EPHA2,EPHA8,EPHB2,ERRFI1,ESPNP,EXOSC10,EXTL1,FAM110D,FAM131C,FAM43B,FAM46B,FAM54B,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FHAD1,FLJ37453,FUCA1,GALE,GPATCH3,GPN2,GPR157,GPR3,GRHL3,H6PD,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HSPB7,HSPG2,HTR1D,HTR6,ID3,IFFO2,IGSF21,IL22RA1,IL28RA,KAZN,KDM1A,KIAA2013,KIF17,KIF1B,KLHDC7A,LDLRAD2,LDLRAP1,LIN28A,LINC00339,LOC100506730,LOC100506801,LOC100506963,LOC284632,LOC339505,LOC440563,LOC644961,LOC646471,LOC649330,LOC729059,LRRC38,LUZP1,LYPLA2,LZIC,MAD2L2,MAN1C1,MAP3K6,MASP2,MDS2,MFAP2,MFN2,MIIP,MINOS1,MIR1976,MIR3115,MIR34A,MIR3675,MIR378F,MIR3917,MIR4253,MIR4632,MIR4684,MIR4695,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,MUL1,MYOM3,NBL1,NBPF1,NBPF3,NCMAP,NECAP2,NIPAL3,NMNAT1,NPPA,NPPA-AS1,NPPB,NR0B2,NUDC,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PER3,PEX14,PGD,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLOD1,PNRC2,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RAP1GAP,RBP7,RCAN3,RCAN3AS,RCC2,RERE,RHCE,RHD,RNF186,RPL11,RPS6KA1,RSC1A1,RSG1,RUNX3,SDHB,SEPN1,SFN,SH2D5,SH3BGRL3,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC30A2,SLC45A1,SLC9A1,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SRRM1,SRSF10,STMN1,STPG1,SYF2,SYTL1,SZRD1,TARDBP,TAS1R2,TCEA3,TCEB3,TMCO4,TMEM201,TMEM222,TMEM50A,TMEM51,TMEM57,TMEM82,TNFRSF1B,TNFRSF8,TNFRSF9,TRIM63,TRNP1,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTS2,VAMP3,VPS13D,VWA5B1,WASF2,WDTC1,WNT4,ZBTB17,ZBTB40,ZDHHC18,ZNF436,ZNF593,ZNF683 chr1 7100000 9200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CA6,CAMTA1,ENO1,ENO1-AS1,ERRFI1,GPR157,PARK7,PER3,RERE,SLC2A5,SLC2A7,SLC45A1,TNFRSF9,UTS2,VAMP3 chr1 7100000 9200000 Deletion Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 CA6,CAMTA1,ENO1,ENO1-AS1,ERRFI1,GPR157,PARK7,PER3,RERE,SLC2A5,SLC2A7,SLC45A1,TNFRSF9,UTS2,VAMP3 chr1 7100000 9200000 Deletion with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CA6,CAMTA1,ENO1,ENO1-AS1,ERRFI1,GPR157,PARK7,PER3,RERE,SLC2A5,SLC2A7,SLC45A1,TNFRSF9,UTS2,VAMP3 chr1 7100000 9200000 Gain Non-small cell lung cancer In situ minichips 20864512 CA6,CAMTA1,ENO1,ENO1-AS1,ERRFI1,GPR157,PARK7,PER3,RERE,SLC2A5,SLC2A7,SLC45A1,TNFRSF9,UTS2,VAMP3 chr17 10021110 10123771 Amplification or deletion Cancer Array CGH 17440070 GAS7 chr1 71002171 71002271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 71008201 71014900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 71009950 71012912 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 1010000 2320000 Deletion Sezary syndrome Array-based CGH 18413736 ABR,BHLHA9,CRK,DPH1,HIC1,INPP5K,LOC284009,METTL16,MIR132,MIR212,MIR22,MIR22HG,MNT,MYO1C,OVCA2,PITPNA,PITPNA-AS1,PRPF8,RILP,RPA1,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TLCD2,TSR1,TUSC5,WDR81,YWHAE chr17 10132108 10217047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH13 chr17 101382 124600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 10142345 10142810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 10142840 15848909 Gain Wilms tumour 250K Genotyping Arrays 21544195 ADORA2B,ADPRM,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAGOH2,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,MYOCD,PIRT,PMP22,SCO1,SHISA6,TBC1D26,TEKT3,TMEM220,TRIM16,ZNF18,ZNF286A chr17 10144146 10144496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 10145530 10217047 Gain and loss Pancreatic cancer SNP array 17952125 MYH13 chr1 71016687 71022184 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr17 10167005 10172600 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 10192755 10302402 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 MYH13,MYH8 chr17 10234364 10265992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH13 chr17 10234364 10265992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH13 chr17 10234367 10265747 Gain and loss Pancreatic cancer SNP array 17952125 MYH13 chr17 10287332 10313601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH8 chr17 10287332 10313601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH8 chr17 10287339 10313601 Gain and loss Pancreatic cancer SNP array 17952125 MYH8 chr17 10287416 10297580 Loss Autism Exome sequencing and CGH 22495309 MYH8 chr1 71030057 71225522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 10336353 10360684 Gain and loss Pancreatic cancer SNP array 17952125 MYH4 chr17 10336354 10362584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH4 chr17 10336354 10362584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH4 chr17 10360000 10720000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 ADPRM,LINC00675,MAGOH2,MYH1,MYH2,MYH3,MYH4,SCO1,TMEM220 chr17 10365198 10393700 Gain and loss Pancreatic cancer SNP array 17952125 MYH4 chr17 10365198 10393742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH4 chr17 10365198 10393742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH4 chr17 10372009 10372104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH4 chr17 10379116 10381898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1038001 1182000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABR,BHLHA9 chr17 1044501 1044955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABR chr17 10459172 10459272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 10472568 10500192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 10472568 10500192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 10472576 10500192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 10489809 10489809 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 10515476 10515564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 10524373 10541610 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 MYH3 chr17 10524380 10541570 Gain and loss Pancreatic cancer SNP array 17952125 MYH3 chr17 10524380 10541572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH3 chr17 10524380 10541572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH3 chr17 10532861 10533176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYH3 chr17 10541652 10555600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH3 chr17 10541652 10555600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH3 chr17 10541658 10555273 Gain and loss Pancreatic cancer SNP array 17952125 MYH3 chr17 10557337 10574371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH3 chr17 10557337 10574371 Gain and loss Pancreatic cancer SNP array 17952125 MYH3 chr17 10557337 10574371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH3 chr17 10577855 12429482 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADPRM,DNAH9,LINC00675,MAGOH2,MAP2K4,MIR744,PIRT,SCO1,SHISA6,TMEM220,ZNF18 chr17 10646701 10647978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1066336 1066431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABR chr17 10669274 10669681 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 10675416 12635879 Deletion Cancer Affymetrix 250K Sty array 20164920 DNAH9,LINC00670,LINC00675,MAP2K4,MIR744,MYOCD,PIRT,SHISA6,ZNF18 chr17 10700000 16000000 Amplification Autism Affymetrix 10K SNP arrays 17322880 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,NCOR1,PIRT,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,TTC19,ZNF18,ZNF286A,ZSWIM7 chr17 10700000 16000000 Copy number Hereditary neuropathy with liability to pressure palsy References 19521722 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,NCOR1,PIRT,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,TTC19,ZNF18,ZNF286A,ZSWIM7 chr17 10700000 16000000 Deletion or duplication Schizophrenia Array CGH 19955444 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,NCOR1,PIRT,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,TTC19,ZNF18,ZNF286A,ZSWIM7 chr17 10700000 16000000 Deletion Schizophrenia References 19571808 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,NCOR1,PIRT,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,TTC19,ZNF18,ZNF286A,ZSWIM7 chr17 10700000 16000000 Duplication Charcot-marie-tooth disease References 18787571 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,NCOR1,PIRT,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,TTC19,ZNF18,ZNF286A,ZSWIM7 chr17 10700000 16000000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,NCOR1,PIRT,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,TTC19,ZNF18,ZNF286A,ZSWIM7 chr17 10700000 16000000 Loss Autism References 18414403 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,NCOR1,PIRT,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,TTC19,ZNF18,ZNF286A,ZSWIM7 chr17 10700000 22200000 Loss Breast cancer BAC-arrays 17001317 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LINC00675,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PIRT,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 10700000 22200000 Loss Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LINC00675,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PIRT,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 10700000 50200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AA06,AARSD1,AATF,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,ADAP2,ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATAD5,ATP5G1,ATP6V0A1,ATPAF2,ATXN7L3,B4GALNT2,B9D1,BECN1,BLMH,BRCA1,C17orf102,C17orf103,C17orf104,C17orf105,C17orf108,C17orf50,C17orf51,C17orf53,C17orf65,C17orf66,C17orf69,C17orf75,C17orf76-AS1,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5R1,CDK5RAP3,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHAD,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,CPD,CRHR1,CRLF3,CRYBA1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHRS13,DHRS7B,DHX58,DHX8,DLX3,DLX4,DNAH9,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,EFCAB13,EFCAB5,EFTUD2,EIF1,ELAC2,EME1,EPN2,EPN2-AS1,EPN2-IT1,EPN3,ERAL1,ERBB2,ETV4,EVI2A,EVI2B,EVPLL,EZH1,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM215A,FAM222B,FAM27L,FAM83G,FBXL20,FBXO47,FBXW10,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45513,FLOT2,FMNL1,FNDC8,FOXN1,FOXO3B,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GNGT2,GOSR1,GOSR2,GPATCH8,GPR179,GRAP,GRAPL,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSPB9,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNJ12,KCNJ18,KIAA0100,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LINC00670,LINC00671,LINC00672,LINC00675,LLGL1,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC339240,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K3,MAP2K4,MAP3K14,MAP3K14-AS1,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MED9,MEIS3P1,MEOX1,MFAP4,MGC12916,MGC57346,MIEN1,MIR10A,MIR1180,MIR1203,MIR1288,MIR144,MIR152,MIR193A,MIR196A1,MIR2117,MIR2909,MIR3184,MIR3185,MIR33B,MIR365B,MIR423,MIR4315-1,MIR4315-2,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4731,MIR4732,MIR4733,MIR4734,MIR5010,MIR5089,MIR632,MIR744,MLLT6,MLX,MMP28,MPP2,MPP3,MPRIP,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MSL1,MTRNR2L1,MYCBPAP,MYL4,MYO15A,MYO18A,MYO19,MYO1D,MYOCD,NAGLU,NAGS,NARR,NBR1,NBR2,NCOR1,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C3L,NT5M,NUFIP2,NXPH3,OMG,ORMDL3,OSBPL7,PCGF2,PDK2,PEMT,PEX12,PGAP3,PHB,PHF12,PHOSPHO1,PIGL,PIGS,PIGW,PIP4K2B,PIPOX,PIRT,PLCD3,PLD6,PLEKHH3,PLEKHM1,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PROCA1,PRPSAP2,PRR15L,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,PYY2,RAB11FIP4,RAB34,RAB5C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASD1,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RNF112,RNF135,RPL19,RPL23,RPL23A,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SARM1,SCRN2,SDF2,SEBOX,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHISA6,SHMT1,SKAP1,SLC13A2,SLC25A39,SLC35B1,SLC35G3,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC5A10,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SNF8,SNORA21,SNORA59A,SNORA59B,SNORD124,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPECC1,SPOP,SPPL2C,SRCIN1,SREBF1,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SUPT6H,SUZ12,SUZ12P1,SYNRG,TAC4,TADA2A,TAF15,TAOK1,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TBKBP1,TBX21,TCAP,TEFM,TEKT3,TEX34,THRA,TIAF1,TLCD1,TMEM101,TMEM106A,TMEM106A-AS1,TMEM11,TMEM132E,TMEM199,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNS4,TOB1,TOB1-AS1,TOM1L2,TOP2A,TOP3A,TP53I13,TRAF4,TRIM16,TRIM16L,TRPV2,TTC19,TTC25,TTLL6,TUBG1,TUBG2,UBB,UBE2Z,UBTF,ULK2,UNC119,UNC45B,USP22,USP32P1,USP32P2,UTP18,UTP6,VAT1,VPS25,VTN,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,WSB1,XYLT2,ZNF18,ZNF207,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7 chr17 10701941 10702046 Gain and loss Pancreatic cancer SNP array 17952125 LINC00675 chr17 10701941 10702046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00675 chr17 10702028 10702128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00675 chr17 10702387 10707339 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00675 chr17 10730323 10730424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIRT chr17 10730323 10730427 Gain and loss Pancreatic cancer SNP array 17952125 PIRT chr17 10730341 10730427 Gain and loss Pancreatic cancer SNP array 17952125 PIRT chr17 10827580 10836456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 10829666 10837088 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 10829666 10837088 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 10830402 10836404 Deletion Normal - 21790672 NOT_FOUND chr17 10831192 10836619 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 10831192 10836619 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr17 10888116 10888216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 10897830 10897977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 71090623 71286079 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 71090623 71286079 Gain or loss Cancer - 20668451 NOT_FOUND chr1 71090623 71286079 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 71090623 71286079 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 71090623 71286079 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 71090623 71286079 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 71090624 71286079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 71090624 71286079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 10910683 12755698 Deletion Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 ARHGAP44,DNAH9,LINC00670,MAP2K4,MIR744,MYOCD,SHISA6,ZNF18 chr17 1091601 1096000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 10921286 10966760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 10961600 10967784 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr1 71100000 72049479 LOH Normal High-resolution SNP genotyping 21211785 MIR186,NEGR1,PTGER3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr17 11001497 11001755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 11001497 11001755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 11001497 11001790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1 10157411 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABR,ACADVL,ACAP1,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH10,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 11063899 16776778 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ADORA2B,ARHGAP44,C17orf76-AS1,CCDC144A,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COX10,COX10-AS1,DNAH9,ELAC2,FAM106CP,FAM18B2,FAM18B2-CDRT4,FAM211A,HS3ST3A1,HS3ST3B1,KRT16P2,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR1288,MIR4731,MIR744,MYOCD,NCOR1,PIGL,PMP22,SHISA6,SNORD49A,SNORD49B,SNORD65,TBC1D26,TEKT3,TRIM16,TRPV2,TTC19,UBB,USP32P1,ZNF18,ZNF286A,ZNF287,ZNF624,ZSWIM7 chr17 1 10700000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 10700000 Deletion Hepatocellular carcinoma Array CGH 16750200 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 10700000 Loss Breast cancer - 19261255 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 10700000 Loss Intracranial arachnoid cysts 34 larynx and 22 pharynx carcinomas 17641416 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 10700000 Loss Myofibroblastic sarcoma CGH 19369631 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 10700000 Loss Primary mediastinal b-cell lymphoma Array CGH 17728785 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 10700000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 11085305 11402921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHISA6 chr17 11085305 11402921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHISA6 chr1 71108911 72049479 LOH Normal High-resolution SNP genotyping 21211785 MIR186,NEGR1,PTGER3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr17 11107397 11402921 Gain and loss Pancreatic cancer SNP array 17952125 SHISA6 chr17 1 11200000 Copy number cataract PCR-based DNA sequencing methods 16735990 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Copy number Papillary thyroid carcinoma QRT-PCR 22161024 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Deletion Autism Multiplex ligation-dependent probe amplification 18925931 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Deletion Bipolar disorder whole-organ genomic mapping strategy 18458673 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Deletion Chronic lymphocytic leukemia FISH 17805327 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Deletion Ewing's sarcoma Karyotyping(Reference) 21437220 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Deletion Liposarcoma FISH, CGH 21253554 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Deletion Splenic marginal zone lymphoma BAC CGH array 21957467 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Deletion Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays(Agilent 21957467 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Gain Metanephric adenoma Oligo aCGH 20802469 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Loss Breast cancer - 16397240 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Loss Cancer array-based techniques 21183584 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Loss Glioblastoma multiforme aCGH 21080181 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 11200000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 11120237 11120330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 11157980 11202026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHISA6 chr17 11162445 11162493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA6 chr1 711183 712376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288069 chr17 11191993 11199898 Gain Normal 244K array 17666407 SHISA6 chr17 11200000 15900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 15900000 Copy number Peripheral neuropathy - 21193943 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 15900000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 15900000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 15900000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 15900000 Deletion Schizophrenia - 20587603 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 15900000 Gain Malignant fibrous histiocytomas aCGH 21085701 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 15900000 Loss Barrett's adenocarcinoma FISH 18663352 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 15900000 Loss Ovarian cancer Affymetrix 20844748 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,SHISA6,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A,ZSWIM7 chr17 11200000 22100000 Amplification Osteosarcoma LightCycler 480 Real-Time PCR 22292074 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 22100000 Duplication,deletion Charcot-marie-tooth disease DHPLC and capillary electrophoresis analysis 16463004 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 22100000 Duplication Mental retardation MLPA 17901693 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 22100000 Gain Glioblastoma multiforme aCGH 21080181 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 22100000 Gain Glioblastoma multiforme conventional CGH 21080181 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 22100000 Gain Malignant fibrous histiocytomas aCGH 21085701 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 22100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 22100000 Microduplication Charcot - 16760730 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 22200000 Gain ovarian endometriomas metaphase CGH 16273235 ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LLGL1,LOC339240,LRRC48,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 11200000 35400000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AA06,AATF,ABHD15,ADAP2,ADORA2B,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ANKRD13B,AP2B1,ARGFXP2,ARHGAP44,ASIC2,ATAD5,ATPAF2,B9D1,BLMH,C17orf102,C17orf103,C17orf108,C17orf50,C17orf51,C17orf66,C17orf75,C17orf76-AS1,C17orf79,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,CORO6,COX10,COX10-AS1,CPD,CRLF3,CRYBA1,DHRS11,DHRS13,DHRS7B,DNAH9,DPRXP4,DRG2,EFCAB5,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FLOT2,FNDC8,FOXN1,FOXO3B,GAS2L2,GGNBP2,GID4,GIT1,GOSR1,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,IFT20,KCNJ12,KCNJ18,KIAA0100,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LINC00670,LLGL1,LOC339240,LRRC37B,LRRC37BP1,LRRC48,LYZL6,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR144,MIR193A,MIR2909,MIR3184,MIR33B,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR632,MIR744,MMP28,MPRIP,MRM1,MTRNR2L1,MYO15A,MYO18A,MYO19,MYO1D,MYOCD,NARR,NCOR1,NEK8,NF1,NLE1,NLK,NOS2,NSRP1,NT5M,NUFIP2,OMG,PEMT,PEX12,PHF12,PIGL,PIGS,PIGW,PIPOX,PLD6,PMP22,POLDIP2,PPY2,PROCA1,PRPSAP2,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RAI1,RASD1,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF112,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SHISA6,SHMT1,SLC13A2,SLC35G3,SLC46A1,SLC47A1,SLC47A2,SLC5A10,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SPACA3,SPAG5,SPAG5-AS1,SPECC1,SREBF1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TBC1D26,TBC1D28,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TBC1D3P5,TEFM,TEKT3,TIAF1,TLCD1,TMEM11,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TOM1L2,TOP3A,TP53I13,TRAF4,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,UNC119,UNC45B,USP22,USP32P1,USP32P2,UTP6,VTN,WSB1,ZNF18,ZNF207,ZNF286A,ZNF286B,ZNF287,ZNF624,ZNF830,ZNHIT3,ZSWIM7 chr17 1120603 1121504 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 1120603 1121504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 11246600 11347984 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 SHISA6 chr17 1127395 1180796 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BHLHA9 chr17 11294856 11294954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA6 chr17 1129707 1151031 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 1129707 1151031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1129707 1151031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 1129707 1151031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1130370 1900332 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 BHLHA9,CRK,INPP5K,MIR22,MIR22HG,MYO1C,PITPNA,PITPNA-AS1,PRPF8,RILP,RPA1,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SLC43A2,SMYD4,TLCD2,TUSC5,WDR81,YWHAE chr17 11311318 11311418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA6 chr17 11343582 11374615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHISA6 chr17 11352286 11353191 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SHISA6 chr17 11352390 11353014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SHISA6 chr17 11352390 11353963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SHISA6 chr17 11355522 11355622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHISA6 chr1 71137728 71138728 Gain Chordoma References 21215367 NOT_FOUND chr17 11405198 11408103 Gain and loss Pancreatic cancer SNP array 17952125 SHISA6 chr17 11406142 11406712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHISA6 chr17 11441241 11447734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHISA6 chr17 11442473 11813856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH9,SHISA6 chr17 11442473 11813856 Gain and loss Pancreatic cancer SNP array 17952125 DNAH9,SHISA6 chr17 11442473 11813856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH9,SHISA6 chr17 11490353 12494377 Deletion Breast cancer FISH 17142309 DNAH9,LINC00670,MAP2K4,MIR744,ZNF18 chr17 11498096 11498416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 1151644 1174715 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BHLHA9 chr17 11560797 11560897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH9 chr17 1156460 1156529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 1156460 1156529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1156618 1156739 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr17 1 15900000 Amplification Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF594,ZSWIM7,ZZEF1 chr17 1 15900000 Deletion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF594,ZSWIM7,ZZEF1 chr17 1 15900000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF594,ZSWIM7,ZZEF1 chr17 1 15900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF594,ZSWIM7,ZZEF1 chr17 1 16000000 Deletion Non-small cell lung cancer FISH 19010865 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF594,ZSWIM7,ZZEF1 chr17 1 16000000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF594,ZSWIM7,ZZEF1 chr17 1 16000000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF594,ZSWIM7,ZZEF1 chr17 1 16000000 Loss Hepatocellular carcinoma Array CGH 18803288 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF594,ZSWIM7,ZZEF1 chr17 11619082 11619182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH9 chr1 71166401 71791912 LOH Normal High-resolution SNP genotyping 21211785 MIR186,PTGER3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr17 11667747 11667847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH9 chr1 71167169 71682814 LOH Normal High-resolution SNP genotyping 21211785 MIR186,PTGER3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr17 11695726 11695823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH9 chr17 11726943 11813790 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DNAH9 chr17 11728097 11728184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH9 chr17 117304 8365794 Gain Prostate cancer Array CGH 18632612 ABR,ACADVL,ACAP1,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHX33,DLG4,DNAH2,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MED11,MED31,METTL16,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPEM1,SPNS2,SPNS3,SRR,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP6,VAMP2,VMO1,VPS53,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 11796122 12006278 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11815924 11820681 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH9 chr17 1181815 1206624 Gain Normal Birdsuite, version 1.5.2 22087296 TUSC5 chr17 11821487 11841414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH9 chr17 11821487 11841414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH9 chr17 11821487 11841510 Gain and loss Pancreatic cancer SNP array 17952125 DNAH9 chr17 11851332 11897247 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 DNAH9,ZNF18 chr17 11856000 12200000 Homozygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11856000 12200000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Deletion, loss Breast cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Deletion, loss Colorectal cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Deletion, loss Pancreatic cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Gain or loss Breast cancer - 20668451 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Gain or loss Cancer - 20668451 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Gain or loss Lung cancer - 20668451 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Gain or loss Ovarian cancer - 20668451 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Gain or loss Pancreas cancer - 20668451 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864859 11987776 Gain or loss Prostate cancer - 20668451 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864866 11987865 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864866 11987865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864866 11987865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864929 11987872 Gain and loss Pancreatic cancer SNP array 17952125 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11864929 11987872 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 DNAH9,MAP2K4,MIR744,ZNF18 chr17 11878452 15865667 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ADORA2B,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MEIS3P1,MGC12916,MIR4731,MIR744,MYOCD,PMP22,TBC1D26,TEKT3,TRIM16,ZNF18,ZNF286A chr17 11880565 11880679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 11880565 11880679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1 18983734 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1103K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MED9,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 11903038 11903138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 1 19125299 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1107K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MED9,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 11919137 11934628 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 MAP2K4 chr17 11921136 11921210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 11921136 11921210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 11925941 11926038 Deletion Acute myeloid leukemia BAC aCGH 20962326 MAP2K4 chr17 11925941 11926038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2K4 chr17 11929273 11959317 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP2K4 chr17 1194585 1250306 Deletion,duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 TUSC5,YWHAE chr17 1194588 1250264 Gain and loss Pancreatic cancer SNP array 17952125 TUSC5,YWHAE chr17 1194592 1250267 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TUSC5,YWHAE chr17 1194592 1250267 Copy number Lung cancer - 20668451 TUSC5,YWHAE chr17 1194592 1250267 Gain or loss Breast cancer - 20668451 TUSC5,YWHAE chr17 1194592 1250267 Gain or loss Cancer - 20668451 TUSC5,YWHAE chr17 1194592 1250267 Gain or loss Lung cancer - 20668451 TUSC5,YWHAE chr17 1194592 1250267 Gain or loss Ovarian cancer - 20668451 TUSC5,YWHAE chr17 1194592 1250267 Gain or loss Pancreas cancer - 20668451 TUSC5,YWHAE chr17 1194592 1250267 Gain or loss Prostate cancer - 20668451 TUSC5,YWHAE chr17 1194595 1250267 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TUSC5,YWHAE chr17 1194595 1250267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUSC5,YWHAE chr17 1194595 1250267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUSC5,YWHAE chr17 1 19505685 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1081K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 19680000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 12002245 15511681 Loss Prostate cancer Array CGH 18632612 ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT4,CDRT7,COX10,COX10-AS1,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MAP2K4,MGC12916,MIR4731,MYOCD,PMP22,TEKT3 chr17 12021508 12021608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2K4 chr1 71202454 71223351 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 12061403 12061503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 1 20649281 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 20774742 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 12100286 15503045 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT4,CDRT7,COX10,COX10-AS1,ELAC2,FAM18B2,FAM18B2-CDRT4,HS3ST3A1,HS3ST3B1,LINC00670,MGC12916,MIR4731,MYOCD,PMP22,TEKT3 chr17 12104013 12104081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 1 21055067 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 21055067 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr1 71211429 71211461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 12124760 12247510 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr17 1 21346127 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1110K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 12137305 12137621 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 12159928 12161159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 1 21944094 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22098241 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22100000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22100000 Deletion Medulloblastoma SNP arrays 21979893 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22100000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22100000 Loss Breast cancer Array CGH 16608533 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Copy number Cancer ICA method 16751803 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Copy number gain Normal High-resolution SNP genotyping 21211785 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Copy number Miller-Dieker syndrome MLPA 22283845 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deleted,duplicated Non-syndromic sensorineural hearing loss array CGH,FISH 17457615 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Colorectal cancer MS markers (18q, 17p, and 5q) 20709793 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Colorectal cancer MS markers(5q, 8p, 10q, 15q, 17p, 18p, and 18q) 20709793 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Colorectal cancer MS markers(to 3p, 4p, 5q, 8p, 9p, 13q, 17p, and 18q) 20709793 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Ewing's sarcoma CGH(Reference) 21437220 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Follicular lymphoma - 19010834 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Medulloblastoma SNP arrays 21979893 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Deletion Normal - 20616218 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Gain or loss Endometrial cancer CGH 22040021 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Increases Breast cancer Patient-specific Data Fusion 22028636 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 In Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 In Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 LOH Breast cancer Illumina 112K SNP array 20837533 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Astrocytoma CGH 17387387 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Basal cell lymphoma Array CGH 16317097 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Breast cancer aCGH 21264507 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1080K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1085K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1096K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1097K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1099K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1100K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss colon cancer comparative genomic hybridization 17210682 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Hepatocellular carcinoma CGH 22174799 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 22200000 Loss Medulloblastoma FISH 21292688 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 12245617 12245717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 1225928 31649829 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1225928 31649843 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1225928 31649843 Copy number HIV/AIDS paralogue ratio test (PRT) 20877625 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1225928 31649843 Copy number HIV/AIDS Reference 17953491 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1225928 31649843 Copy number Immune disease - 21076436 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1225928 31649843 Copy number Rheumatoid arthritis Reference 17953491 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1225928 31649843 Copy number Type 1 diabetes Reference 17953491 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1225928 31649843 Segmental duplications HIV/AIDS Real-Time PCR 15637236 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 12282854 12330639 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 12284565 12318910 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 12285129 12314966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 12291612 12322489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 12291626 12310909 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 12293859 12299979 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 12306804 12540753 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 LINC00670 chr17 12325164 12358625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 1 23726569 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1086K arrays 21546498 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 12394011 12481229 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00670 chr17 12394011 12481229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00670 chr17 12394011 12481229 Gain and loss Pancreatic cancer SNP array 17952125 LINC00670 chr17 12394011 12481229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00670 chr17 1 24000000 Copy number Endometrioid adenocarcinoma CGH 16974079 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Deletion Chronic lymphocytic leukemia dChip software 17971485 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Deletion Colorectal cancer GISTIC software 19359472 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Deletion Embryonal rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Loss Basal cell lymphoma CGH 17170743 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Loss Breast cancer Array CGH 16461572 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Loss Follicular lymphoma CGH 17170743 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Loss Human rectal carcinomas oligonucleotide arrays 16397240 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 1 24000000 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr1 71240996 71258766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 1242109 31665953 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ABHD15,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GIT1,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RPA1,RPAIN,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr1 71245335 71245420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 12455289 12455376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00670 chr17 12459173 12459260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00670 chr17 12472708 12656242 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00670,MYOCD chr17 1 2492179 Deletion Normal - 21701786 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,DPH1,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,LOC100506388,LOC284009,METTL16,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OVCA2,PITPNA,PITPNA-AS1,PRPF8,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TIMM22,TLCD2,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 12493762 13142916 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ARHGAP44,ELAC2,LINC00670,MYOCD chr17 125067 194593 Copy number Autism exome sequencing 22495311 LOC100506388,RPH3AL chr17 12509939 12607724 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00670,MYOCD chr17 12509939 12607724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00670,MYOCD chr17 12509939 12607724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00670,MYOCD chr17 12510031 12609356 Gain and loss Pancreatic cancer SNP array 17952125 LINC00670,MYOCD chr17 12633553 12835685 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ARHGAP44,MYOCD chr17 12633554 12835685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP44,MYOCD chr17 12633554 12835685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP44,MYOCD chr17 12633581 12835684 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP44,MYOCD chr17 12633581 12835685 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP44,MYOCD chr17 12635678 12635710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYOCD chr17 1 267000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf97,DOC2B,LOC100506388,RPH3AL chr17 1272190 1306294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YWHAE chr17 1272190 1306294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YWHAE chr17 1272207 1306294 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 YWHAE chr17 1272207 1306294 Gain or loss Breast cancer - 20668451 YWHAE chr17 1272207 1306294 Gain or loss Cancer - 20668451 YWHAE chr17 1272207 1306294 Gain or loss Lung cancer - 20668451 YWHAE chr17 1272207 1306294 Gain or loss Ovarian cancer - 20668451 YWHAE chr17 1272207 1306294 Gain or loss Pancreas cancer - 20668451 YWHAE chr17 1272207 1306294 Gain or loss Prostate cancer - 20668451 YWHAE chr17 1272226 1306294 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 YWHAE chr17 1272226 1306294 Gain and loss Pancreatic cancer SNP array 17952125 YWHAE chr17 12745983 12746059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP44 chr17 12809385 13110583 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP44,ELAC2 chr17 12836426 12862084 Amplification Intellectual disability 100k SNP Array 21811512 ARHGAP44 chr17 12836426 12862084 Deletion Intellectual disability 100k SNP Array 21811512 ARHGAP44 chr17 12836426 12862084 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ARHGAP44 chr17 12836435 12862049 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP44 chr17 12836435 12862063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP44 chr17 12836435 12862063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP44 chr17 12836435 12862063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP44 chr1 71284749 74440273 Deletion Cancer Affymetrix 250K Sty array 20164920 MIR186,NEGR1,NEGR1-IT1,PTGER3,ZRANB2,ZRANB2-AS1,ZRANB2-AS2 chr17 12848405 12878905 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP44 chr17 12852765 12852865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP44 chr17 12863668 12863761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGAP44 chr17 12895495 12895595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELAC2 chr17 12942017 13623693 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1105K arrays 21546498 HS3ST3A1 chr17 1297348 1297422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 YWHAE chr1 71301561 71319266 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 PTGER3 chr1 71301563 71319333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTGER3 chr1 71301563 71319333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTGER3 chr17 13024783 13056163 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 13026348 13763498 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 HS3ST3A1 chr17 13044954 13045144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13045142 13045393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 71305902 71305987 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr1 71305902 71305987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 130759 130855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPH3AL chr17 13119162 13185172 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr17 1312001 1575000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRK,INPP5K,MYO1C,PITPNA,PITPNA-AS1,PRPF8,RILP,SCARF1,SLC43A2 chr17 13131974 13132074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 1314229 1342751 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CRK chr17 1314232 1342633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRK chr17 1314232 1342633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRK chr17 13142916 13812349 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 HS3ST3A1 chr17 1314875 1342745 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRK chr17 1314875 1342745 Gain and loss Pancreatic cancer SNP array 17952125 CRK chr17 13161203 13161529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 1 31800000 Loss Breast cancer Microarray-based CGH 17133270 ABHD15,ABR,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,BLMH,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FOXN1,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GIT1,GLOD4,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,NXN,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TIMM22,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,UNC119,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VPS53,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 13185868 13185968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 1325459 1359544 Amplification Colorectal cancer CGH 22274926 CRK chr17 1326433 1326533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRK chr17 1 3300000 Deletion Neurodevelopmental disorder References 17015230 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,DPH1,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1G1,OR3A1,OR3A2,OR3A4P,OVCA2,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TIMM22,TLCD2,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3300000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,DPH1,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1G1,OR3A1,OR3A2,OR3A4P,OVCA2,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TIMM22,TLCD2,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3300000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,DPH1,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1G1,OR3A1,OR3A2,OR3A4P,OVCA2,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TIMM22,TLCD2,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3300000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,DPH1,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1G1,OR3A1,OR3A2,OR3A4P,OVCA2,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TIMM22,TLCD2,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3300000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,DPH1,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1G1,OR3A1,OR3A2,OR3A4P,OVCA2,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TIMM22,TLCD2,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3300000 Loss Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,DPH1,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1G1,OR3A1,OR3A2,OR3A4P,OVCA2,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TIMM22,TLCD2,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 13307038 13307138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13339731 13445969 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HS3ST3A1 chr17 13339731 13445969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HS3ST3A1 chr17 13339731 13445969 Gain and loss Pancreatic cancer SNP array 17952125 HS3ST3A1 chr17 13339731 13445969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS3ST3A1 chr17 1335570 1591800 Gain and loss Pancreatic cancer SNP array 17952125 CRK,INPP5K,MYO1C,PITPNA,PITPNA-AS1,PRPF8,RILP,SCARF1,SLC43A2 chr17 1335633 21191548 Loss Prostate cancer Array CGH 18632612 ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,C17orf100,C17orf103,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 13387571 13387688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 13403539 13403639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST3A1 chr17 13436655 13436832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST3A1 chr17 13436831 13437070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS3ST3A1 chr17 13441121 14046599 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDRT15P1,COX10,COX10-AS1,HS3ST3A1 chr17 1344620 1366704 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CRK chr17 1344622 1366719 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRK chr17 1344622 1366719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRK chr17 1344622 1366719 Gain and loss Pancreatic cancer SNP array 17952125 CRK chr17 1344622 1366719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRK chr17 13455229 13458633 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 HS3ST3A1 chr17 13470601 13475200 Deletion Glioma mate-paired sequence 20126413 HS3ST3A1 chr17 13472409 13473418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HS3ST3A1 chr17 1353365 14045669 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT15P1,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GGT6,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF594,ZZEF1 chr17 1 35400000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AA06,AATF,ABHD15,ABR,ACADVL,ACAP1,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,AP2B1,ARGFXP2,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,BLMH,C17orf100,C17orf102,C17orf103,C17orf107,C17orf108,C17orf49,C17orf50,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf66,C17orf74,C17orf75,C17orf76-AS1,C17orf79,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CD68,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DPRXP4,DRG2,DVL2,EFCAB5,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,EVI2A,EVI2B,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FLOT2,FNDC8,FOXN1,FOXO3B,FXR2,GABARAP,GAS2L2,GAS7,GEMIN4,GGNBP2,GGT6,GID4,GIT1,GLOD4,GLP2R,GLTPD2,GOSR1,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,IFT20,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC37B,LRRC37BP1,LRRC48,LSMD1,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR2909,MIR3183,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4731,MIR4732,MIR4733,MIR497,MIR497HG,MIR632,MIR744,MIS12,MMP28,MNT,MPDU1,MPRIP,MRM1,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NARR,NCOR1,NDEL1,NEK8,NEURL4,NF1,NLE1,NLGN2,NLK,NLRP1,NOS2,NSRP1,NT5M,NTN1,NUFIP2,NUP88,NXN,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PHF12,PHF23,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLDIP2,POLR2A,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB6,PSMD11,PYY2,RAB11FIP4,RAB34,RABEP1,RAD51D,RAD51L3-RFFL,RAI1,RANGRF,RAP1GAP2,RASD1,RASL10B,RCVRN,RDM1,RFFL,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF135,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL23A,RPL26,RPL29P2,RTN4RL1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G3,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,SSH2,STX8,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TBC1D3P5,TEFM,TEKT1,TEKT3,TIAF1,TIMM22,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,UNC119,UNC45B,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VMO1,VPS53,VTN,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZNF830,ZNHIT3,ZSWIM7,ZZEF1 chr17 1354484 1354534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRK chr17 13565908 13566008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 1 3600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Copy number Normal - 21701786 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Deletion Miller-Dieker syndrome high-density microarrays 22241247 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Duplication Autism - 21901111 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Duplication Chromosome fusion - 21901111 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Duplication Developmental delay - 21901111 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Duplication Facial dysmorphism - 21901111 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Duplication Heart disease Illumina 629Quad Beadchip platform 21282601 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Loss Glioblastoma CGH 17387387 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 1 3600000 Microdeletion Miller-Dieker lissencephaly syndrome aCGH 22470819 ABR,ASPA,BHLHA9,C17orf97,CRK,CTNS,DBIL5P,DOC2B,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,HIC1,INPP5K,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE chr17 13645270 13645558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 1368037 1412835 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 INPP5K,MYO1C chr17 1368037 1412835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5K,MYO1C chr17 1368037 1412835 Gain and loss Pancreatic cancer SNP array 17952125 INPP5K,MYO1C chr17 1368037 1412835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5K,MYO1C chr17 13690927 13691007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7137778 7137842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 13821966 14069281 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDRT15P1,COX10,COX10-AS1 chr17 13830577 13830672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13834149 13834249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13856005 13875551 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 13873167 13873267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13884204 13884335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13884342 13884508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13893521 13893566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13913444 14052712 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDRT15P1,COX10,COX10-AS1 chr17 13913444 14052712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDRT15P1,COX10,COX10-AS1 chr17 13913444 14052712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDRT15P1,COX10,COX10-AS1 chr17 13913444 14052714 Gain and loss Pancreatic cancer SNP array 17952125 CDRT15P1,COX10,COX10-AS1 chr17 13927603 13927679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 13963466 13963547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COX10-AS1 chr17 1398122 1398154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5K chr17 1399529 1399885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP5K chr1 714001 717500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100288069 chr17 14034987 15425596 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CDRT15,CDRT4,CDRT7,COX10,FAM18B2,FAM18B2-CDRT4,HS3ST3B1,MGC12916,MIR4731,PMP22,TEKT3 chr17 14036155 14036406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX10 chr17 14039002 15414023 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CDRT15,CDRT4,CDRT7,COX10,FAM18B2,FAM18B2-CDRT4,HS3ST3B1,MGC12916,MIR4731,PMP22,TEKT3 chr17 14040000 15410000 Gain Autism Array CGH 18522746 CDRT15,CDRT4,CDRT7,COX10,FAM18B2,FAM18B2-CDRT4,HS3ST3B1,MGC12916,MIR4731,PMP22,TEKT3 chr17 14040467 15411904 Microdeletion Epilepsy HumanHap 550K, and HumanHap 317K 21635232 CDRT15,CDRT4,CDRT7,COX10,FAM18B2,FAM18B2-CDRT4,HS3ST3B1,MGC12916,MIR4731,PMP22,TEKT3 chr17 14041181 14041281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COX10 chr17 14063278 15411904 Deletion Obesity Illumina SNP array 20622171 CDRT15,CDRT4,CDRT7,COX10,FAM18B2,FAM18B2-CDRT4,HS3ST3B1,MGC12916,MIR4731,PMP22,TEKT3 chr17 14079715 14080904 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COX10 chr17 14079715 14080904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX10 chr17 14079898 14080875 Gain and loss Pancreatic cancer SNP array 17952125 COX10 chr17 14103971 14104071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COX10 chr17 1410652 1439096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INPP5K,PITPNA,PITPNA-AS1 chr17 14111831 14111831 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 COX10 chr17 14111831 14111831 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 COX10 chr17 14126237 14126337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14128601 14134200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 14130633 14132277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 14133018 14216943 Gain Stenocardia MACArray Karyo 81K BAC-chips 21860640 CDRT15,HS3ST3B1,MGC12916 chr17 14133018 14216943 Gain Vasospasm MACArray Karyo 81K BAC-chips 21860640 CDRT15,HS3ST3B1,MGC12916 chr17 1 41361241 Loss Wilms tumour 250K Genotyping Arrays 21544195 AA06,AARSD1,AATF,ABHD15,ABR,ACACA,ACADVL,ACAP1,ACLY,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP44,ARHGEF15,ARL5C,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP6V0A1,ATPAF2,AURKB,B9D1,BCL6B,BECN1,BHLHA9,BLMH,BRCA1,C17orf100,C17orf102,C17orf103,C17orf107,C17orf108,C17orf49,C17orf50,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf66,C17orf74,C17orf75,C17orf76-AS1,C17orf78,C17orf79,C17orf85,C17orf96,C17orf97,C17orf98,C1QBP,CACNB1,CAMKK1,CAMTA2,CASC3,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD68,CDC6,CDK12,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CSF3,CTC1,CTDNEP1,CTNS,CWC25,CXCL16,CYB5D1,CYB5D2,DBIL5P,DDX52,DERL2,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX58,DLG4,DNAH2,DNAH9,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DVL2,EFCAB5,EFNB3,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,ERBB2,EVI2A,EVI2B,EVPLL,EZH1,FAM101B,FAM106A,FAM106CP,FAM134C,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBXL20,FBXO39,FBXO47,FBXW10,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLOT2,FNDC8,FOXN1,FOXO3B,FXR2,G6PC,GABARAP,GAS2L2,GAS7,GAST,GEMIN4,GGNBP2,GGT6,GHDC,GID4,GIT1,GJD3,GLOD4,GLP2R,GLTPD2,GOSR1,GP1BA,GPR179,GPS2,GRAP,GRAPL,GRB7,GSDMA,GSDMB,GSG2,GUCY2D,HAP1,HCRT,HES7,HIC1,HNF1B,HS3ST3A1,HS3ST3B1,HSD17B1,HSPB9,IFI35,IFT20,IGFBP4,IKZF3,INCA1,INPP5K,ITGAE,JUP,KAT2A,KCNAB3,KCNH4,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KLHL10,KLHL11,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LINC00324,LINC00670,LINC00671,LINC00672,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100131347,LOC100505782,LOC100506388,LOC100506713,LOC147093,LOC284009,LOC284023,LOC284100,LOC339166,LOC339240,LOC440434,LOC728392,LRRC37A11P,LRRC37B,LRRC37BP1,LRRC3C,LRRC48,LSMD1,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED1,MED11,MED24,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MIEN1,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR212,MIR22,MIR22HG,MIR2909,MIR3183,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4731,MIR4732,MIR4733,MIR4734,MIR497,MIR497HG,MIR5010,MIR632,MIR744,MIS12,MLLT6,MLX,MMP28,MNT,MPDU1,MPRIP,MRM1,MRPL45,MSL1,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NAGLU,NARR,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NOS2,NR1D1,NSRP1,NT5C3L,NT5M,NTN1,NUFIP2,NUP88,NXN,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,ORMDL3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PHF12,PHF23,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLEKHH3,PLSCR3,PLXDC1,PMP22,PNMT,POLDIP2,POLR2A,PPP1R1B,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB3,PSMB6,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY2,RAB11FIP4,RAB34,RAB5C,RABEP1,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RCVRN,RDM1,RFFL,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF135,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RTN4RL1,RUNDC1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G3,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA21,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD124,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SOCS7,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SRCIN1,SREBF1,SRR,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STX8,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TCAP,TEFM,TEKT1,TEKT3,THRA,TIAF1,TIMM22,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNS4,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TTC25,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,UNC119,UNC45B,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VAT1,VMO1,VPS25,VPS53,VTN,WDR16,WDR81,WIPF2,WNK4,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 14141001 14148500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 14145125 14193444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 14145175 14193444 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 14145175 14193444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 14145175 14193444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 14162402 14162475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14168053 14168153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 1 41900000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 AA06,AARSD1,AATF,ABHD15,ABR,ACACA,ACADVL,ACAP1,ACLY,ADAP2,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ANKRD13B,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP44,ARHGEF15,ARL4D,ARL5C,ARRB2,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP6V0A1,ATPAF2,AURKB,B9D1,BCL6B,BECN1,BHLHA9,BLMH,BRCA1,C17orf100,C17orf102,C17orf103,C17orf105,C17orf107,C17orf108,C17orf49,C17orf50,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf66,C17orf74,C17orf75,C17orf76-AS1,C17orf78,C17orf79,C17orf85,C17orf96,C17orf97,C17orf98,C1QBP,CACNB1,CAMKK1,CAMTA2,CASC3,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD68,CDC6,CDK12,CDK5R1,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COPS3,CORO6,COX10,COX10-AS1,CPD,CRK,CRLF3,CRYBA1,CSF3,CTC1,CTDNEP1,CTNS,CWC25,CXCL16,CYB5D1,CYB5D2,DBIL5P,DDX52,DERL2,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX58,DHX8,DLG4,DNAH2,DNAH9,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,EFCAB5,EFNB3,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,ERAL1,ERBB2,ETV4,EVI2A,EVI2B,EVPLL,EZH1,FAM101B,FAM106A,FAM106CP,FAM134C,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBXL20,FBXO39,FBXO47,FBXW10,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLOT2,FNDC8,FOXN1,FOXO3B,FXR2,G6PC,GABARAP,GAS2L2,GAS7,GAST,GEMIN4,GGNBP2,GGT6,GHDC,GID4,GIT1,GJD3,GLOD4,GLP2R,GLTPD2,GOSR1,GP1BA,GPR179,GPS2,GRAP,GRAPL,GRB7,GSDMA,GSDMB,GSG2,GUCY2D,HAP1,HCRT,HES7,HIC1,HNF1B,HS3ST3A1,HS3ST3B1,HSD17B1,HSPB9,IFI35,IFT20,IGFBP4,IKZF3,INCA1,INPP5K,ITGAE,JUP,KAT2A,KCNAB3,KCNH4,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0100,KIAA0664,KIAA0753,KIF1C,KLHL10,KLHL11,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LINC00324,LINC00670,LINC00671,LINC00672,LINC00675,LLGL1,LOC100128288,LOC100130581,LOC100130950,LOC100131347,LOC100505782,LOC100506388,LOC100506713,LOC147093,LOC284009,LOC284023,LOC284100,LOC339166,LOC339240,LOC440434,LOC728392,LRRC37A11P,LRRC37B,LRRC37BP1,LRRC3C,LRRC48,LSMD1,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED1,MED11,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,MFAP4,MFSD6L,MGC12916,MIEN1,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR144,MIR193A,MIR195,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR3183,MIR3184,MIR324,MIR33B,MIR365B,MIR3676,MIR423,MIR4314,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4731,MIR4732,MIR4733,MIR4734,MIR497,MIR497HG,MIR5010,MIR632,MIR744,MIS12,MLLT6,MLX,MMP28,MNT,MPDU1,MPP3,MPRIP,MRM1,MRPL45,MSL1,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NAGLU,NARR,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NOS2,NR1D1,NSRP1,NT5C3L,NT5M,NTN1,NUFIP2,NUP88,NXN,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,ORMDL3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PHF12,PHF23,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLEKHH3,PLSCR3,PLXDC1,PMP22,PNMT,POLDIP2,POLR2A,PPP1R1B,PPY2,PROCA1,PRPF8,PRPSAP2,PSMB3,PSMB6,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY2,RAB11FIP4,RAB34,RAB5C,RABEP1,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RCVRN,RDM1,RFFL,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF135,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RTN4RL1,RUNDC1,SARM1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SDF2,SEBOX,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SEZ6,SGK494,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G3,SLC35G6,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA21,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD124,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SOCS7,SOST,SOX15,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SRCIN1,SREBF1,SRR,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STX8,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TCAP,TEFM,TEKT1,TEKT3,THRA,TIAF1,TIMM22,TLCD1,TLCD2,TM4SF5,TMEM102,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM88,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNS4,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TTC25,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,UNC119,UNC45B,USP22,USP32P1,USP32P2,USP43,USP6,UTP6,VAMP2,VAT1,VMO1,VPS25,VPS53,VTN,WDR16,WDR81,WIPF2,WNK4,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 14234734 14871533 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HS3ST3B1 chr17 1424445 1478880 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PITPNA,SLC43A2 chr17 1424448 1478880 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PITPNA,SLC43A2 chr17 1424448 1478880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PITPNA,SLC43A2 chr17 1424448 1478880 Gain and loss Pancreatic cancer SNP array 17952125 PITPNA,SLC43A2 chr17 1424448 1478880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNA,SLC43A2 chr17 14292694 14345441 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr17 14294953 14295053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14364446 14766493 Amplification Breast cancer FISH 17142309 NOT_FOUND chr17 14444253 14444305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14488389 14488489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14495830 14495886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14499326 14499426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14506864 14521809 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 14527576 14527642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14536811 14536911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 1454419 1454715 Gain and loss Pancreatic cancer SNP array 17952125 PITPNA chr17 1454419 1454715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNA chr17 1454420 1454716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNA chr17 14547915 14548015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14549118 14549576 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 14549118 14549576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 14611625 14624245 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 14611625 14624245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 14611625 14624245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1462532 1462632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITPNA chr17 1466237 1466339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 1466237 1466339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 14688080 14688174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14692436 14692511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14740000 19350000 Loss Acute lymphoblastic leukemia - 21339820 ADORA2B,ALKBH5,ATPAF2,B9D1,C17orf76-AS1,CCDC144A,CCDC144B,CDRT1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM83G,FBXW10,FLCN,FLII,FOXO3B,GID4,GRAP,GRAPL,KRT16P2,LGALS9C,LLGL1,LOC339240,LRRC48,MAPK7,MED9,MEIS3P1,MFAP4,MIR1180,MIR1288,MIR33B,MIR4731,MPRIP,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORD49A,SNORD49B,SNORD65,SREBF1,TBC1D26,TBC1D28,TEKT3,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,USP32P1,USP32P2,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 147406 166961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 14749186 14749261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14791783 14792240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 14814818 14815265 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 14815783 14815883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14833469 15132646 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDRT7 chr17 1483901 1495791 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SLC43A2 chr17 1483903 1495791 Gain and loss Pancreatic cancer SNP array 17952125 SLC43A2 chr17 1483903 1495797 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC43A2 chr17 1483903 1495797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC43A2 chr17 1483903 1495797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC43A2 chr17 14846125 14846159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 14864271 16460839 Deletion Breast cancer FISH 17142309 ADORA2B,C17orf76-AS1,CDRT1,CDRT15P2,CDRT4,CDRT7,CENPV,FAM18B2,FAM18B2-CDRT4,FAM211A,MEIS3P1,MIR1288,MIR4731,NCOR1,PIGL,PMP22,SNORD49A,SNORD49B,SNORD65,TBC1D26,TEKT3,TRIM16,TRPV2,TTC19,UBB,ZNF286A,ZNF287,ZSWIM7 chr17 14897946 14897946 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr17 14897946 14897946 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr17 1496199 1500142 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC43A2 chr17 1496199 1500142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC43A2 chr17 1496199 1500142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC43A2 chr17 1496201 1500142 Gain and loss Pancreatic cancer SNP array 17952125 SLC43A2 chr17 14965299 14966532 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 1 4972526 LOH Normal High-resolution SNP genotyping 21211785 ABR,ALOX15,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf107,C17orf85,C17orf97,CAMKK1,CAMTA2,CHRNE,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DOC2B,DPH1,EMC6,ENO3,FAM101B,FAM57A,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIF1C,LOC100506388,LOC284009,MED11,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYBBP1A,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PITPNA,PITPNA-AS1,PLD2,PRPF8,PSMB6,RAP1GAP2,RILP,RNF167,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,UBE2G1,VMO1,VPS53,WDR81,YWHAE,ZMYND15,ZZEF1 chr17 1 4974199 LOH Normal High-resolution SNP genotyping 21211785 ABR,ALOX15,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf107,C17orf85,C17orf97,CAMKK1,CAMTA2,CHRNE,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DOC2B,DPH1,EMC6,ENO3,FAM101B,FAM57A,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIF1C,LOC100506388,LOC284009,MED11,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYBBP1A,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PITPNA,PITPNA-AS1,PLD2,PRPF8,PSMB6,RAP1GAP2,RILP,RNF167,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,UBE2G1,VMO1,VPS53,WDR81,YWHAE,ZMYND15,ZZEF1 chr17 14981992 15034769 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 14984626 14999442 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 14984651 14995227 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 14985200 16043971 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADORA2B,CDRT1,CDRT15P2,CDRT4,FAM18B2,FAM18B2-CDRT4,MEIS3P1,MIR4731,NCOR1,PMP22,TBC1D26,TEKT3,TRIM16,TTC19,ZNF286A,ZSWIM7 chr17 14992101 15034905 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 1500672 1534926 Gain or loss Breast cancer - 20668451 SLC43A2 chr17 1500672 1534926 Gain or loss Cancer - 20668451 SLC43A2 chr17 1500672 1534926 Gain or loss Lung cancer - 20668451 SLC43A2 chr17 1500672 1534926 Gain or loss Ovarian cancer - 20668451 SLC43A2 chr17 1500672 1534926 Gain or loss Pancreas cancer - 20668451 SLC43A2 chr17 1500672 1534926 Gain or loss Prostate cancer - 20668451 SLC43A2 chr17 1500674 1534891 Gain and loss Pancreatic cancer SNP array 17952125 SLC43A2 chr17 1500674 1534926 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC43A2 chr17 1500674 1534926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC43A2 chr17 1500674 1534926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC43A2 chr17 15070002 15094782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 15073820 15109369 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 NOT_FOUND chr17 15073820 15109369 Deletion Charcot-marie-tooth disease ChIP assays 22180461 NOT_FOUND chr17 15073820 15109369 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr17 15073822 15109369 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 15073822 15109369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15073822 15109369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 15073822 15109369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15081828 15081915 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 15081828 15081915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15104501 15107500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 15122301 15128400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 15124184 15126420 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr17 15124352 15126210 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr1 71513908 71514217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZRANB2-AS1 chr17 15147853 15185683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4731,PMP22 chr17 15147853 15185683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4731,PMP22 chr17 15147853 15185683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4731,PMP22 chr17 15147856 15185624 Gain and loss Pancreatic cancer SNP array 17952125 MIR4731,PMP22 chr17 15155387 15155495 Gain and loss Pancreatic cancer SNP array 17952125 PMP22 chr17 15155388 15155493 Gain and loss Pancreatic cancer SNP array 17952125 PMP22 chr17 15155391 15155493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PMP22 chr17 15252426 15252728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15252426 15252730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 15252426 15252730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15254790 15285930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 15276738 15276838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 15280063 15407600 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDRT4,FAM18B2,FAM18B2-CDRT4 chr17 15280063 15407600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDRT4,FAM18B2,FAM18B2-CDRT4 chr17 15280063 15407600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDRT4,FAM18B2,FAM18B2-CDRT4 chr17 15281815 15311650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 15287678 15288230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15301836 16542913 Duplication Autism Array CGH 22102821 ADORA2B,C17orf76-AS1,CDRT1,CDRT15P2,CDRT4,CENPV,FAM18B2,FAM18B2-CDRT4,FAM211A,MEIS3P1,MIR1288,NCOR1,PIGL,SNORD49A,SNORD49B,SNORD65,TBC1D26,TRIM16,TRPV2,TTC19,UBB,ZNF286A,ZNF287,ZNF624,ZSWIM7 chr17 153277 153966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPH3AL chr17 15346304 15407570 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDRT4,FAM18B2,FAM18B2-CDRT4 chr17 15346304 15407570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDRT4,FAM18B2,FAM18B2-CDRT4 chr17 15346304 15407570 Gain and loss Pancreatic cancer SNP array 17952125 CDRT4,FAM18B2,FAM18B2-CDRT4 chr17 15346304 15407570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDRT4,FAM18B2,FAM18B2-CDRT4 chr17 153476 153958 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RPH3AL chr17 15350905 15351179 Gain and loss Pancreatic cancer SNP array 17952125 CDRT4,FAM18B2-CDRT4 chr17 15350905 15351393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDRT4,FAM18B2-CDRT4 chr17 15369739 15369839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDRT4,FAM18B2-CDRT4 chr17 15395051 15395150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM18B2-CDRT4 chr17 15400000 17900000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ADORA2B,C17orf76-AS1,CCDC144A,CDRT1,CDRT15P2,CENPV,COPS3,FAM106CP,FAM18B2,FAM18B2-CDRT4,FAM211A,FLCN,KRT16P2,LRRC48,MED9,MEIS3P1,MIR1288,MIR33B,MPRIP,NCOR1,NT5M,PEMT,PIGL,PLD6,RAI1,RASD1,SMCR5,SMCR9,SNORD49A,SNORD49B,SNORD65,SREBF1,TBC1D26,TNFRSF13B,TOM1L2,TRIM16,TRPV2,TTC19,UBB,USP32P1,ZNF286A,ZNF287,ZNF624,ZSWIM7 chr17 154052 179196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 15409572 15410303 Gain and loss Pancreatic cancer SNP array 17952125 FAM18B2,FAM18B2-CDRT4 chr17 15409572 15410303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM18B2,FAM18B2-CDRT4 chr17 15411629 15435499 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 FAM18B2,FAM18B2-CDRT4 chr17 15418138 15528338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDRT1,FAM18B2,FAM18B2-CDRT4 chr17 15432427 15463743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM18B2,FAM18B2-CDRT4 chr17 15432427 15463743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM18B2,FAM18B2-CDRT4 chr17 15432891 15433123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM18B2,FAM18B2-CDRT4 chr17 15433014 15463743 Gain and loss Pancreatic cancer SNP array 17952125 FAM18B2,FAM18B2-CDRT4 chr17 15471999 15528338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDRT1 chr17 15471999 15528338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDRT1 chr17 15472006 15526918 Gain and loss Pancreatic cancer SNP array 17952125 CDRT1 chr17 154727 154900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPH3AL chr17 154753 154927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPH3AL chr17 15483886 15487515 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 15483886 15487515 Deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 NOT_FOUND chr17 15483886 15487515 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 71550547 71550598 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 ZRANB2-AS2 chr17 15511000 15549083 Duplication Non-syndromic sensorineural hearing loss References 19212409 CDRT1,TRIM16 chr17 15519515 15519682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDRT1 chr17 15519515 15519682 Gain and loss Pancreatic cancer SNP array 17952125 CDRT1 chr17 15519515 15519682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDRT1 chr17 15530872 15536092 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TRIM16 chr17 15543777 15563177 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 TRIM16 chr17 15543780 15588817 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIM16 chr17 15543780 15588817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM16 chr17 15543780 15588817 Gain and loss Pancreatic cancer SNP array 17952125 TRIM16 chr17 15543780 15588817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM16 chr17 15548271 15548939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM16 chr17 15548271 15548939 Gain and loss Pancreatic cancer SNP array 17952125 TRIM16 chr17 15548271 15548939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM16 chr1 71556249 71556349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZRANB2-AS2 chr17 15574751 15582000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIM16 chr17 15576316 15588820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM16 chr17 15576316 15588820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM16 chr17 15576322 15588493 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIM16 chr17 1557820 1560286 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRPF8 chr17 1557820 1560286 Gain and loss Pancreatic cancer SNP array 17952125 PRPF8 chr17 1557820 1560412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF8 chr17 15582001 15584500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIM16 chr17 15584501 15587500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIM16 chr17 15587501 15630000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF286A chr17 15591355 15614730 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZNF286A chr17 15608742 15609703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF286A chr17 15612756 15615465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF286A chr17 1561552 1566255 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PRPF8 chr17 1561555 1566252 Gain and loss Pancreatic cancer SNP array 17952125 PRPF8 chr17 1561555 1566255 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRPF8 chr17 1561555 1566255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPF8 chr17 1561555 1566255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF8 chr17 15617726 15635510 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF286A chr17 15627327 15628346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15630001 15632000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 15630645 15631734 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 15630889 15632778 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 15630889 15632778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15632001 15788000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDRT15P2,MEIS3P1,TBC1D26 chr17 15636901 15637084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D26 chr17 1563941 1564035 Gain and loss Pancreatic cancer SNP array 17952125 PRPF8 chr17 1563941 1564035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF8 chr17 1563947 1564031 Gain and loss Pancreatic cancer SNP array 17952125 PRPF8 chr1 71565175 71565275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZRANB2-AS2 chr17 1566580 1588628 Gain and loss Pancreatic cancer SNP array 17952125 PRPF8 chr17 1566580 1588629 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRPF8 chr17 1566580 1588636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPF8 chr17 1566580 1588636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF8 chr17 15668184 15727332 Duplication Non-syndromic sensorineural hearing loss References 19212409 CDRT15P2,MEIS3P1 chr17 15673408 15708192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEIS3P1 chr17 1567534 1599152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRPF8 chr17 156975 157182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPH3AL chr17 15699923 15739754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 1570475 1600791 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRPF8 chr17 15730283 15734509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 1575001 1606000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRPF8 chr17 15784285 15802838 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 15788001 15796000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 15788956 15819935 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 15788956 15819935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15788956 15819935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 15788956 15819935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 157950 178435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 15804294 15804611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 71580647 72460201 Gain and loss Pancreatic cancer SNP array 17952125 NEGR1,NEGR1-IT1,ZRANB2-AS2 chr17 15819233 15820233 Gain Osteosarcoma References 21215367 NOT_FOUND chr17 15820599 15843731 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 15820599 15843731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15822489 15823489 Gain Osteosarcoma References 21215367 NOT_FOUND chr17 15843507 15872821 Gain and loss Pancreatic cancer SNP array 17952125 ADORA2B chr17 15843507 15889061 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADORA2B,ZSWIM7 chr17 15843507 15889061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADORA2B,ZSWIM7 chr17 15843507 15889061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADORA2B,ZSWIM7 chr17 15875443 16059570 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADORA2B,NCOR1,TTC19,ZSWIM7 chr17 15875443 16059570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADORA2B,NCOR1,TTC19,ZSWIM7 chr17 15875443 16059570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADORA2B,NCOR1,TTC19,ZSWIM7 chr17 15875444 16059570 Gain and loss Pancreatic cancer SNP array 17952125 ADORA2B,NCOR1,TTC19,ZSWIM7 chr17 15890796 15926001 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 TTC19,ZSWIM7 chr17 15900000 22100000 Amplification Esophageal squamous carcinoma CGH 21637470 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Amplification Invasive pancreatic ductal carcinoma array CGH 16982739 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Copy number Autism FISH 20877625 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Copy number Breast cancer BAC array 16272173 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Copy number Normal - 21701786 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Copy number Potocki-lupski syndrome FISH 20877625 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Copy number Smith-Magenis syndrome FISH 20877625 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Congenital abnormalities BAC array CGH platform 21549014 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Developmental delay Array-based comparative genomic hybridization 18414209 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Developmental delay BAC array CGH platform 21549014 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Epilepsy ref 20970697 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Mental retardation Array-based comparative genomic hybridization 18414209 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Mental retardation BAC array CGH platform 21549014 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Smith-Magenis syndrome G-banded chromosome analysis 16775514 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Smith-Magenis syndrome high-density microarrays 22241247 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion Smith-Magenis syndrome oligonucleotide-based comparative genomic hybridization 20188345 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Duplication Autism ref 20970697 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Duplication Mental retardation References 19951919 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Duplication Potocki-lupski syndrome Array-CGH 21271655 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Duplication Potocki-lupski syndrome FISH 17357070 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Duplication Potocki-lupski syndrome from references 18923514 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Duplication Potocki-lupski syndrome high-density microarrays 22241247 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Duplication Potocki-lupski syndrome oligonucleotide-based comparative genomic hybridization 20188345 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Duplication Potocki-lupski syndrome References 20110824 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Gain Breast cancer Array CGH 16608533 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Gain Malignant fibrous histiocytomas aCGH 21085701 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Gain Schizophrenia Affymetrix 6.0 array 21399695 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Loss Adenocarcinoma array-CGH 19607727 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Loss Non-small cell lung cancer dChip 21829676 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Loss Squamous cell cancer array-CGH 19607727 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Charcot-marie-tooth disease aCGH 22470819 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Neurofibromatosis aCGH 22470819 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Neuropathy aCGH 22470819 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Smith-Magenis syndrome aCGH 22470819 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Smith-Magenis syndrome FISH 17357070 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Smith-Magenis syndrome FISH 18301319 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Smith-Magenis syndrome References 18469339 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Smith-Magenis syndrome References 22241097 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Tourette syndrome from references 18923514 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microdeletion Type 1 diabetes aCGH 22470819 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22100000 Microduplication Potocki-lupski syndrome Taqman real-time quantitative PCR 18469339 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22200000 Gain Follicular lymphoma aCGH 20505157 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 22200000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 15900000 78774742 Gain Medulloblastoma SNP arrays 21979893 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AXIN2,B4GALNT2,B9D1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf103,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf51,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT15L2,CENPV,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHRS7B,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM83G,FBF1,FBXL20,FBXO47,FBXW10,FDXR,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL1,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MED9,MEOX1,METTL23,METTL2A,MFAP4,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1180,MIR1203,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR33B,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEMT,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGL,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SHMT1,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA59A,SNORA59B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPECC1,SPHK1,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM11,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53I13,TRAF4,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV2,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBB,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF286B,ZNF287,ZNF385C,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7 chr17 15908868 16062016 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NCOR1,TTC19 chr17 15928081 15928420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC19 chr17 1592880 1605309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1592880 1605309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 15930455 15930455 Copy number Prostate cancer Illumina GA II sequencer 21307934 TTC19 chr17 1593070 1605309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 1593070 1605310 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 15942743 15942843 Gain and loss Pancreatic cancer SNP array 17952125 NCOR1 chr17 15942743 15942843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOR1 chr17 15971646 15971709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCOR1 chr17 15981807 15981911 Gain and loss Pancreatic cancer SNP array 17952125 NCOR1 chr17 15981807 15981911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOR1 chr17 15981809 15981911 Gain and loss Pancreatic cancer SNP array 17952125 NCOR1 chr17 1598667 1631614 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR22,MIR22HG,TLCD2,WDR81 chr17 159937 161772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 15997830 15997864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCOR1 chr17 16000000 22200000 Copy number Neuropathy references 17597781 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16000000 22200000 Deletion and duplication Potocki-lupski syndrome real-time PCR assays 18059269 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16000000 22200000 Deletion Hepatocellular carcinoma Array CGH 16750200 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16000000 22200000 Deletion Neurodevelopmental disorder References 17015230 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16000000 22200000 Deletion Smith-Magenis syndrome references 17597781 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16000000 22200000 Duplication Potocki-lupski syndrome references 17597781 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16000000 22200000 Gain and amplification Multiple myeloma Array CGH 16616336 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16000000 22200000 Gain Mental retardation Array CGH 17847001 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16000000 22200000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,CENPV,COPS3,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MED9,MFAP4,MIR1180,MIR1288,MIR33B,MPRIP,MTRNR2L1,MYO15A,NCOR1,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D28,TMEM11,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,ULK2,USP22,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr1 71601049 71601460 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZRANB2-AS2 chr17 16035871 16036186 Gain and loss Pancreatic cancer SNP array 17952125 NCOR1 chr17 16035871 16036186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOR1 chr17 16035871 16036191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOR1 chr1 71605325 71605574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZRANB2-AS2 chr17 1606001 1782000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR22,MIR22HG,RPA1,SERPINF1,SERPINF2,SMYD4,TLCD2,WDR81 chr17 16061234 16170286 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NCOR1,PIGL chr17 16061234 16170286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCOR1,PIGL chr17 16061234 16170286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOR1,PIGL chr17 16061259 16170294 Gain and loss Pancreatic cancer SNP array 17952125 NCOR1,PIGL chr17 1612009 1627618 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR22,MIR22HG,TLCD2,WDR81 chr17 1612009 1627618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR22,MIR22HG,TLCD2,WDR81 chr17 1612009 1627618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR22,MIR22HG,TLCD2,WDR81 chr17 1612009 1627624 Gain and loss Pancreatic cancer SNP array 17952125 MIR22,MIR22HG,TLCD2,WDR81 chr17 16126053 16126127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGL chr17 16133812 16134923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIGL chr17 161772 168534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 16186572 16197537 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PIGL chr17 16186572 16197537 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PIGL chr17 16186574 16197537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGL chr17 16186574 16197537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGL chr17 16186574 16197538 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIGL chr17 16186574 16197538 Gain and loss Pancreatic cancer SNP array 17952125 PIGL chr17 16188442 18802659 LOH Normal High-resolution SNP genotyping 21211785 ALKBH5,ATPAF2,C17orf76-AS1,CCDC144A,CCDC144B,CENPV,COPS3,DRG2,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM211A,FBXW10,FLCN,FLII,FOXO3B,GID4,KRT16P2,LGALS9C,LLGL1,LOC339240,LRRC48,MED9,MIR33B,MPRIP,MYO15A,NT5M,PEMT,PIGL,PLD6,PRPSAP2,RAI1,RASD1,SHMT1,SMCR5,SMCR7,SMCR8,SMCR9,SNORD49A,SNORD49B,SNORD65,SREBF1,TBC1D28,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,TRPV2,UBB,USP32P1,USP32P2,ZNF286B,ZNF287,ZNF624 chr17 16200923 17564918 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C17orf76-AS1,CCDC144A,CENPV,COPS3,FAM106CP,FAM211A,FLCN,KRT16P2,MED9,MPRIP,NT5M,PEMT,PIGL,PLD6,RASD1,SMCR9,SNORD49A,SNORD49B,SNORD65,TNFRSF13B,TRPV2,UBB,USP32P1,ZNF287,ZNF624 chr17 16223001 16259000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CENPV,PIGL chr17 16225092 16226779 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIGL chr17 16225092 16226779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGL chr17 16225092 16226779 Gain and loss Pancreatic cancer SNP array 17952125 PIGL chr17 16225092 16226779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGL chr17 1625034 1734601 Copy number Lung cancer paired-end sequencing 18438408 RPA1,SERPINF1,SERPINF2,SMYD4,WDR81 chr17 16259001 16337500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPV2,UBB chr17 16259581 16281040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 16259581 16281040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 16259612 16281042 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr17 16259613 16281036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 16259613 16281040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 16283081 16286063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UBB chr17 16283081 16286063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBB chr17 16283081 16286063 Gain and loss Pancreatic cancer SNP array 17952125 UBB chr17 16283081 16286063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBB chr17 16283544 16283615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 16283544 16283615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 16284075 16284145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 16284075 16284145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 16285265 16285337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBB chr17 16285633 16335888 Gain and loss Pancreatic cancer SNP array 17952125 TRPV2,UBB chr17 16286053 16335889 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRPV2,UBB chr17 16286053 16336192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPV2,UBB chr17 16286053 16336192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPV2,UBB chr17 1629582 1679925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERPINF1,SERPINF2,WDR81 chr17 1629582 1679925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERPINF1,SERPINF2,WDR81 chr17 1629598 1679844 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SERPINF1,SERPINF2,WDR81 chr17 1629598 1679844 Gain and loss Pancreatic cancer SNP array 17952125 SERPINF1,SERPINF2,WDR81 chr17 1629757 1898716 Loss Normal 244K array 17666407 RPA1,RTN4RL1,SERPINF1,SERPINF2,SMYD4,WDR81 chr17 16315876 16315976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 16329768 16329845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPV2 chr17 163373 194801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100506388,RPH3AL chr17 16344726 16344810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C17orf76-AS1 chr17 16368910 16368981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C17orf76-AS1,FAM211A chr17 16392186 16393103 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 FAM211A chr17 16395426 16413245 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM211A chr17 16395426 16413245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM211A chr17 16395426 16413245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM211A chr17 16395436 16413189 Gain and loss Pancreatic cancer SNP array 17952125 FAM211A chr17 1639844 1639931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR81 chr1 71641212 72520993 Deletion body mass index References 19812545 NEGR1,NEGR1-IT1,ZRANB2-AS2 chr1 71641213 72520765 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NEGR1,NEGR1-IT1,ZRANB2-AS2 chr1 71641213 72521005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEGR1,NEGR1-IT1,ZRANB2-AS2 chr1 71641213 72521005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEGR1,NEGR1-IT1,ZRANB2-AS2 chr1 71642715 71727289 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ZRANB2-AS2 chr17 16430195 16430296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 16446175 16447022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 16460887 16461920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF287 chr17 16460887 16461920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF287 chr17 16461535 16461914 Gain and loss Pancreatic cancer SNP array 17952125 ZNF287 chr17 16464776 16497883 Gain and loss Pancreatic cancer SNP array 17952125 ZNF287 chr17 16464785 16497883 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF287 chr17 16464785 16497883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF287 chr17 16464785 16497883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF287 chr17 16467781 16758162 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC144A,FAM106CP,KRT16P2,USP32P1,ZNF287,ZNF624 chr17 1648983 1649044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERPINF2 chr17 1649595 1725887 Loss Bladder cancer array-CGH 21909424 SERPINF1,SERPINF2,SMYD4 chr17 16526490 16758162 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC144A,FAM106CP,KRT16P2,USP32P1,ZNF624 chr17 16527476 16528266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF624 chr17 16527502 16528277 Gain and loss Pancreatic cancer SNP array 17952125 ZNF624 chr17 16530000 17450000 Loss Breast cancer aCGH 21509527 CCDC144A,COPS3,FAM106CP,FLCN,KRT16P2,MED9,MPRIP,NT5M,PEMT,PLD6,RASD1,SMCR9,TNFRSF13B,USP32P1,ZNF624 chr17 16530000 18020000 Deletion Ductal carcinoma SNP array 22052326 ATPAF2,CCDC144A,COPS3,DRG2,FAM106CP,FLCN,GID4,KRT16P2,LRRC48,MED9,MIR33B,MPRIP,MYO15A,NT5M,PEMT,PLD6,RAI1,RASD1,SMCR5,SMCR9,SREBF1,TNFRSF13B,TOM1L2,USP32P1,ZNF624 chr17 16534271 16621920 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144A,ZNF624 chr17 16534271 16648492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC144A,ZNF624 chr17 16534271 16648492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144A,ZNF624 chr17 16534440 16795790 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144A,FAM106CP,KRT16P2,USP32P1,ZNF624 chr17 16535836 16535945 Gain and loss Pancreatic cancer SNP array 17952125 ZNF624 chr17 16535836 16535945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF624 chr17 16551342 16887834 Copy number Normal Quantitative Real-Time PCR 17666543 CCDC144A,FAM106CP,KRT16P2,TNFRSF13B,USP32P1,ZNF624 chr17 16554098 16554398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF624 chr17 16554100 16554400 Gain and loss Pancreatic cancer SNP array 17952125 ZNF624 chr17 16554100 16554400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF624 chr17 16589670 16590802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 16589675 16590800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 716595 915966 Copy number gain Normal High-resolution SNP genotyping 21211785 C1orf170,FAM41C,KLHL17,LINC00115,LOC100130417,LOC643837,NOC2L,PLEKHN1,SAMD11 chr17 16598056 16663526 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CCDC144A chr17 16598056 16665025 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CCDC144A chr17 16598056 16680995 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CCDC144A chr17 16598056 16686460 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CCDC144A chr17 16603639 16680995 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CCDC144A chr17 16632918 16634540 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144A chr17 16642048 16644476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144A chr17 16642048 16648493 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144A chr17 16642512 16644476 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144A chr17 16645911 16667446 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CCDC144A chr17 16645911 16667446 Copy number loss Normal High-resolution SNP genotyping 21211785 CCDC144A chr17 16650517 16667446 Copy number loss Normal High-resolution SNP genotyping 21211785 CCDC144A chr17 16653501 16695000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC144A,FAM106CP,USP32P1 chr17 16657468 16665371 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CCDC144A chr17 16662022 16666531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144A chr17 16662181 16694959 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144A,FAM106CP,USP32P1 chr17 16663526 16665025 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CCDC144A chr17 16674038 16676792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144A chr17 16684780 16689922 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 16684780 16689922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 16694058 16694504 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 USP32P1 chr17 16694058 16694504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP32P1 chr17 16695001 16724000 Copy number Normal ReadDepth: A Parallel R Package 21305028 USP32P1 chr17 16697974 16698348 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 USP32P1 chr17 16697974 16698348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP32P1 chr17 16723271 18814979 Gain Non-syndromic sensorineural hearing loss array CGH 18496225 ALKBH5,ATPAF2,CCDC144B,COPS3,DRG2,EVPLL,FAM106A,FAM18B1,FBXW10,FLCN,FLII,FOXO3B,GID4,KRT16P2,LGALS9C,LLGL1,LOC339240,LRRC48,MED9,MIR33B,MPRIP,MYO15A,NT5M,PEMT,PLD6,PRPSAP2,RAI1,RASD1,SHMT1,SMCR5,SMCR7,SMCR8,SMCR9,SREBF1,TBC1D28,TNFRSF13B,TOM1L2,TOP3A,TRIM16L,USP32P2,ZNF286B chr17 16724001 16726000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 16726001 16767000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT16P2 chr17 1673675 1673755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERPINF1 chr17 16763408 17426408 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 COPS3,FLCN,MED9,MPRIP,NT5M,PEMT,PLD6,RASD1,SMCR9,TNFRSF13B chr17 16766954 16778878 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 16766954 16778878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 16766954 16778878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 16766954 16778878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 16767001 16780000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 16780001 16790500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 16783124 16816127 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 16783124 16816127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 16783124 16816127 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 16783124 16816127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1 6800000 Copy number Small bowel adenocarcinoma BAC arrays and 30K oligonucleotide arrays 21586687 ABR,AIPL1,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf100,C17orf107,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CHRNE,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DERL2,DHX33,DOC2B,DPH1,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIAA0753,KIF1C,LOC100130950,LOC100506388,LOC284009,LOC339166,LOC728392,MED11,MED31,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MIR4520A,MIR4520B,MIS12,MNT,MYBBP1A,MYO1C,NLRP1,NUP88,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PRPF8,PSMB6,RABEP1,RAP1GAP2,RILP,RNF167,RNMTL1,RPA1,RPAIN,RPH3AL,RTN4RL1,SCARF1,SCIMP,SERPINF1,SERPINF2,SGSM2,SHPK,SLC13A5,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP6,VMO1,VPS53,WDR81,WSCD1,XAF1,YWHAE,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1 6800000 Loss Colorectal cancer - 21586687 ABR,AIPL1,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf100,C17orf107,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CHRNE,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DERL2,DHX33,DOC2B,DPH1,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIAA0753,KIF1C,LOC100130950,LOC100506388,LOC284009,LOC339166,LOC728392,MED11,MED31,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MIR4520A,MIR4520B,MIS12,MNT,MYBBP1A,MYO1C,NLRP1,NUP88,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PRPF8,PSMB6,RABEP1,RAP1GAP2,RILP,RNF167,RNMTL1,RPA1,RPAIN,RPH3AL,RTN4RL1,SCARF1,SCIMP,SERPINF1,SERPINF2,SGSM2,SHPK,SLC13A5,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP6,VMO1,VPS53,WDR81,WSCD1,XAF1,YWHAE,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 1680095 1748119 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPA1,SERPINF1,SMYD4 chr17 1680095 1748119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPA1,SERPINF1,SMYD4 chr17 1680095 1748119 Gain and loss Pancreatic cancer SNP array 17952125 RPA1,SERPINF1,SMYD4 chr17 1680095 1748119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPA1,SERPINF1,SMYD4 chr17 168088427 168129700 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr17 1682829 1733175 Deletion Colorectal cancer CGH 22274926 SMYD4 chr17 16830501 17081500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MPRIP,TNFRSF13B chr17 1 6858022 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 ABR,AIPL1,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf100,C17orf107,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CHRNE,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DERL2,DHX33,DOC2B,DPH1,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIAA0753,KIF1C,LOC100130950,LOC100506388,LOC284009,LOC339166,LOC728392,MED11,MED31,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MIR4520A,MIR4520B,MIS12,MNT,MYBBP1A,MYO1C,NLRP1,NUP88,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PRPF8,PSMB6,RABEP1,RAP1GAP2,RILP,RNF167,RNMTL1,RPA1,RPAIN,RPH3AL,RTN4RL1,SCARF1,SCIMP,SERPINF1,SERPINF2,SGSM2,SHPK,SLC13A5,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP6,VMO1,VPS53,WDR81,WSCD1,XAF1,YWHAE,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 16861193 16861293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNFRSF13B chr17 16886799 17029599 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MPRIP chr17 16886799 17029599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 16886799 17029599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 16886831 17029598 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MPRIP chr17 16886920 16887127 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr17 16891980 16909266 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 16892089 16903982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 16907872 16907931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 16937119 16998334 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MPRIP chr17 16939733 16939833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 16966591 16966661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPRIP chr17 16975342 16975431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPRIP chr17 16975705 17029612 Gain and loss Pancreatic cancer SNP array 17952125 MPRIP chr17 17010389 17042742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MPRIP chr17 17012803 17029612 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MPRIP chr17 17012803 17029612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17014122 17014228 Gain and loss Pancreatic cancer SNP array 17952125 MPRIP chr17 17014122 17014228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17015515 17015600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPRIP chr17 17022454 17022745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17022458 17022710 Gain and loss Pancreatic cancer SNP array 17952125 MPRIP chr17 17022458 17022710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17032050 17032150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPRIP chr17 17045036 17050357 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MPRIP chr17 17045036 17050357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17045036 17050357 Gain and loss Pancreatic cancer SNP array 17952125 MPRIP chr17 17045036 17050357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17050850 17050950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPRIP chr17 17056251 17081227 Gain or loss Breast cancer - 20668451 MPRIP chr17 17056251 17081227 Gain or loss Cancer - 20668451 MPRIP chr17 17056251 17081227 Gain or loss Lung cancer - 20668451 MPRIP chr17 17056251 17081227 Gain or loss Ovarian cancer - 20668451 MPRIP chr17 17056251 17081227 Gain or loss Pancreas cancer - 20668451 MPRIP chr17 17056251 17081227 Gain or loss Prostate cancer - 20668451 MPRIP chr17 17056254 17072176 Gain and loss Pancreatic cancer SNP array 17952125 MPRIP chr17 17056254 17081227 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MPRIP chr17 17056254 17081227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17056254 17081227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17056300 17728675 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 COPS3,FLCN,MED9,MIR33B,MPRIP,NT5M,PEMT,PLD6,RAI1,RASD1,SMCR5,SMCR9,SREBF1 chr17 1707976 1708490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD4 chr17 17079799 17079972 Gain and loss Pancreatic cancer SNP array 17952125 MPRIP chr17 1708083 1708490 Gain and loss Pancreatic cancer SNP array 17952125 SMYD4 chr17 17081501 17187500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COPS3,FLCN,MPRIP,PLD6 chr17 17086049 17086925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPRIP chr17 17086059 17086888 Gain and loss Pancreatic cancer SNP array 17952125 MPRIP chr17 17090232 17090332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPRIP chr17 17090866 17125316 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLCN,MPRIP,PLD6 chr17 17090866 17125316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLCN,MPRIP,PLD6 chr17 17090866 17125316 Gain and loss Pancreatic cancer SNP array 17952125 FLCN,MPRIP,PLD6 chr17 17090866 17125316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLCN,MPRIP,PLD6 chr17 17130629 17148882 Loss Normal 244K array 17666407 FLCN chr17 17147374 17191702 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COPS3 chr17 17147374 17191702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COPS3 chr17 17147374 17191702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPS3 chr17 17147404 17191702 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 COPS3 chr1 71716467 72584538 LOH Normal High-resolution SNP genotyping 21211785 NEGR1,NEGR1-IT1 chr17 17169201 17173800 Deletion Glioma mate-paired sequence 20126413 COPS3 chr17 17171100 17171975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COPS3 chr17 17187501 17199500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 17199501 17339000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NT5M,SMCR9 chr17 17210245 18333998 LOH Normal High-resolution SNP genotyping 21211785 ALKBH5,ATPAF2,DRG2,EVPLL,FLII,GID4,LLGL1,LOC339240,LRRC48,MED9,MIR33B,MYO15A,NT5M,PEMT,RAI1,RASD1,SHMT1,SMCR5,SMCR7,SMCR8,SMCR9,SREBF1,TOM1L2,TOP3A chr17 17227416 17228051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NT5M chr17 17227416 17228051 Gain and loss Pancreatic cancer SNP array 17952125 NT5M chr17 17227416 17228051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NT5M chr17 17266720 17267743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 17300466 17301298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 17304473 17304572 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 17304473 17304574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 17304486 17304571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 17321025 17337259 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMCR9 chr17 17321025 17337259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMCR9 chr17 17321025 17337259 Gain and loss Pancreatic cancer SNP array 17952125 SMCR9 chr17 17321025 17337259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMCR9 chr17 17328432 17341068 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr17 17338477 17340432 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 17338477 17340432 Gain or loss Cancer - 20668451 NOT_FOUND chr17 17338477 17340432 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 17338477 17340432 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 17338477 17340432 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 17338477 17340432 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 17338480 17340432 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 17338480 17340432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 17338480 17340432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 17338480 17340432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 17339001 17421000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MED9,PEMT,RASD1 chr17 17349602 17435719 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MED9,PEMT,RASD1 chr17 17349602 17435719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED9,PEMT,RASD1 chr17 17349602 17435719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED9,PEMT,RASD1 chr17 17349604 17435719 Gain and loss Pancreatic cancer SNP array 17952125 MED9,PEMT,RASD1 chr17 17400772 17400872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 17404524 17457857 Gain Normal Birdsuite, version 1.5.2 22087296 PEMT chr17 17418972 17645184 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 PEMT,RAI1 chr17 17421001 17537000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PEMT chr17 17422670 17422778 Gain and loss Pancreatic cancer SNP array 17952125 PEMT chr17 17422670 17422778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEMT chr17 17442269 22704027 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,C17orf103,C17orf51,CCDC144B,CCDC144C,CCDC144NL,CDRT15L2,DHRS7B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM18B1,FAM27L,FAM83G,FBXW10,FLII,FLJ36000,FOXO3B,GID4,GRAP,GRAPL,KCNJ12,KCNJ18,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAP2K3,MAPK7,MFAP4,MIR1180,MIR33B,MTRNR2L1,MYO15A,PEMT,PRPSAP2,RAI1,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SNORA59A,SNORA59B,SPECC1,SREBF1,TBC1D28,TMEM11,TOM1L2,TOP3A,TRIM16L,ULK2,USP22,USP32P2,ZNF286B chr17 17454554 17454654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEMT chr17 17466490 17499342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PEMT chr17 17482081 18485753 LOH Normal High-resolution SNP genotyping 21211785 ALKBH5,ATPAF2,CCDC144B,DRG2,EVPLL,FAM106A,FLII,GID4,LGALS9C,LLGL1,LOC339240,LRRC48,MIR33B,MYO15A,PEMT,RAI1,SHMT1,SMCR5,SMCR7,SMCR8,SREBF1,TOM1L2,TOP3A,USP32P2 chr17 1748865 1749598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPA1 chr17 1748994 1749320 Gain and loss Pancreatic cancer SNP array 17952125 RPA1 chr17 1749686 21141348 Copy number Lung cancer paired-end sequencing 18438408 ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr1 717501 829000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM41C,LINC00115,LOC643837 chr17 17507063 17507182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 17518065 17520412 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 17525512 17655490 Copy number Autism exome sequencing 22495311 RAI1 chr17 17525512 17655492 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAI1 chr17 17525512 17655492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAI1 chr17 17525512 17655492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAI1 chr17 17525512 17657400 Copy number Autism Illumina Humanhap300 Beadchips 19492091 RAI1 chr17 17525512 17657400 Gain and loss Pancreatic cancer SNP array 17952125 RAI1 chr17 17532705 18673874 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1112K arrays 21546498 ALKBH5,ATPAF2,CCDC144B,DRG2,EVPLL,FAM106A,FBXW10,FLII,FOXO3B,GID4,LGALS9C,LLGL1,LOC339240,LRRC48,MIR33B,MYO15A,RAI1,SHMT1,SMCR5,SMCR7,SMCR8,SREBF1,TBC1D28,TOM1L2,TOP3A,TRIM16L,USP32P2,ZNF286B chr17 17537001 17695000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAI1,SMCR5 chr17 17622694 17623116 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAI1 chr17 17622694 17623116 Gain and loss Pancreatic cancer SNP array 17952125 RAI1 chr17 17622694 18869071 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ALKBH5,ATPAF2,CCDC144B,DRG2,EVPLL,FAM106A,FAM18B1,FBXW10,FLII,FOXO3B,GID4,LGALS9C,LLGL1,LOC339240,LRRC48,MIR33B,MYO15A,PRPSAP2,RAI1,SHMT1,SLC5A10,SMCR5,SMCR7,SMCR8,SREBF1,TBC1D28,TOM1L2,TOP3A,TRIM16L,USP32P2,ZNF286B chr17 17634699 17635699 Loss Osteosarcoma References 21215367 RAI1 chr17 17637430 17637530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAI1 chr17 17654892 17655550 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RAI1 chr17 17655794 17681041 Gain and loss Pancreatic cancer SNP array 17952125 RAI1,SMCR5 chr17 17655794 17681050 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAI1,SMCR5 chr17 17655794 17681050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAI1,SMCR5 chr17 17655794 17681050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAI1,SMCR5 chr17 17657875 17657970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAI1 chr17 17658826 17658916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAI1 chr17 17686706 17860912 Gain and loss Pancreatic cancer SNP array 17952125 MIR33B,RAI1,SREBF1,TOM1L2 chr17 17687546 17816509 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MIR33B,RAI1,SREBF1,TOM1L2 chr17 17687548 17816515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR33B,RAI1,SREBF1,TOM1L2 chr17 17687548 17816515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR33B,RAI1,SREBF1,TOM1L2 chr17 17687824 17688258 Gain and loss Pancreatic cancer SNP array 17952125 RAI1 chr17 17689691 17689984 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAI1 chr17 17690865 17816449 Gain and loss Pancreatic cancer SNP array 17952125 MIR33B,RAI1,SREBF1,TOM1L2 chr17 17690865 17816455 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR33B,RAI1,SREBF1,TOM1L2 chr17 17693874 17693964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAI1 chr17 17695001 17941000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATPAF2,LRRC48,MIR33B,RAI1,SREBF1,TOM1L2 chr17 17699063 17699143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAI1 chr17 17702308 17703020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAI1 chr17 17702635 17718313 Gain and loss Pancreatic cancer SNP array 17952125 MIR33B,RAI1,SREBF1 chr17 17723129 20463036 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,CCDC144B,CCDC144C,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM18B1,FAM83G,FBXW10,FLII,FOXO3B,GID4,GRAP,GRAPL,KRT16P3,LGALS9B,LGALS9C,LLGL1,LOC339240,LRRC48,MAPK7,MFAP4,MIR1180,MYO15A,PRPSAP2,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR7,SMCR8,SNORA59A,SNORA59B,SPECC1,SREBF1,TBC1D28,TOM1L2,TOP3A,TRIM16L,ULK2,USP32P2,ZNF286B chr1 71772509 72667050 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NEGR1,NEGR1-IT1 chr17 17728675 18608326 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ALKBH5,ATPAF2,CCDC144B,DRG2,EVPLL,FAM106A,FLII,FOXO3B,GID4,LGALS9C,LLGL1,LOC339240,LRRC48,MYO15A,SHMT1,SMCR7,SMCR8,SREBF1,TBC1D28,TOM1L2,TOP3A,USP32P2,ZNF286B chr17 17816851 17860914 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TOM1L2 chr17 17816923 17860898 Copy number Smith-Magenis syndrome MLPA 22283845 TOM1L2 chr17 17816924 17860928 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TOM1L2 chr17 17816924 17860928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOM1L2 chr17 17816924 17860928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOM1L2 chr17 1782001 1799500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPA1 chr17 17825231 17825611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOM1L2 chr17 17845139 17845234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOM1L2 chr17 17845141 17845234 Gain and loss Pancreatic cancer SNP array 17952125 TOM1L2 chr17 17845143 17845234 Gain and loss Pancreatic cancer SNP array 17952125 TOM1L2 chr17 17854682 17855861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOM1L2 chr17 17862059 17883205 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRRC48,TOM1L2 chr17 17862059 17883205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC48,TOM1L2 chr17 17862059 17883205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC48,TOM1L2 chr17 17862304 17883205 Gain and loss Pancreatic cancer SNP array 17952125 LRRC48,TOM1L2 chr17 1786540 1787865 Gain and loss Pancreatic cancer SNP array 17952125 RPA1 chr17 1786540 1787865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPA1 chr17 1 78774742 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3183,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 1 78774742 Copy number gain Normal High-resolution SNP genotyping 21211785 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3183,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 1 78774742 Deletion Ewing's sarcoma dPCR, FISH(Reference) 21437220 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3183,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 1 78774742 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3183,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 1 78774742 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3183,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 1 78774742 Gain Esophageal squamous carcinoma CGH 21637470 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3183,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 1 78774742 Gain Glioblastoma multiforme aCGH 21080181 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3183,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 1 78774742 Indels Normal Affymetrix 6.0 array 21223598 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3183,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 17883336 17912443 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRRC48 chr17 17883336 17912443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC48 chr17 17883336 17912443 Gain and loss Pancreatic cancer SNP array 17952125 LRRC48 chr17 17883336 17912443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC48 chr17 17887989 17888021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC48 chr17 17931964 17952017 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATPAF2,GID4 chr17 17931964 17952017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATPAF2,GID4 chr17 17931964 17952017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATPAF2,GID4 chr17 17932007 17952017 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ATPAF2,GID4 chr17 17932008 17952017 Gain and loss Pancreatic cancer SNP array 17952125 ATPAF2,GID4 chr17 17934546 17934646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATPAF2 chr17 17935146 17945526 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ATPAF2,GID4 chr17 17940000 20010000 Amplification Sezary syndrome Array-based CGH 18413736 AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ATPAF2,B9D1,CCDC144B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM18B1,FAM83G,FBXW10,FLII,FOXO3B,GID4,GRAP,GRAPL,LGALS9C,LLGL1,LOC339240,MAPK7,MFAP4,MIR1180,MYO15A,PRPSAP2,RNF112,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR7,SMCR8,SNORA59A,SNORA59B,SPECC1,TBC1D28,TOP3A,TRIM16L,ULK2,USP32P2,ZNF286B chr17 17940393 19251679 Amplification Medulloblastoma Array CGH 16783165 ALKBH5,ATPAF2,B9D1,CCDC144B,DRG2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM18B1,FAM83G,FBXW10,FLII,FOXO3B,GID4,GRAP,GRAPL,LGALS9C,LLGL1,LOC339240,MIR1180,MYO15A,PRPSAP2,SHMT1,SLC5A10,SMCR7,SMCR8,TBC1D28,TOP3A,TRIM16L,USP32P2,ZNF286B chr17 17941001 18008000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATPAF2,DRG2,GID4 chr17 17952744 18023841 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 DRG2,GID4,MYO15A chr17 17952745 18023841 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DRG2,GID4,MYO15A chr17 17952745 18023841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DRG2,GID4,MYO15A chr17 17952745 18023841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DRG2,GID4,MYO15A chr17 17952745 18034452 Gain and loss Pancreatic cancer SNP array 17952125 DRG2,GID4,MYO15A chr17 17990591 17990680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 17990591 17990680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1799501 1927000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPA1,RTN4RL1 chr17 18008001 18027000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DRG2,MYO15A chr17 18024935 18024994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO15A chr17 18027001 18029000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO15A chr17 18027592 18053990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO15A chr17 18027592 18053990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO15A chr17 18028014 18053993 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MYO15A chr17 18028278 18052676 Gain and loss Pancreatic cancer SNP array 17952125 MYO15A chr17 18029001 18073000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO15A chr17 18056048 18056148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO15A chr17 18069626 18088911 Gain and loss Pancreatic cancer SNP array 17952125 ALKBH5,MYO15A chr17 18069660 18088913 Copy number Smith-Magenis syndrome MLPA 22283845 ALKBH5,MYO15A chr17 18069661 18088914 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALKBH5,MYO15A chr17 18069661 18088914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALKBH5,MYO15A chr17 18069661 18088914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALKBH5,MYO15A chr17 18069956 18070649 Gain and loss Pancreatic cancer SNP array 17952125 MYO15A chr17 18073001 18088000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALKBH5,MYO15A chr17 18088001 18104000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALKBH5 chr17 18088880 18102780 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALKBH5 chr17 18088880 18102780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALKBH5 chr17 18088880 18102780 Gain and loss Pancreatic cancer SNP array 17952125 ALKBH5 chr17 18088880 18102780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALKBH5 chr17 18104001 18109500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALKBH5 chr17 18104594 18109818 Gain and loss Pancreatic cancer SNP array 17952125 ALKBH5 chr17 18104594 18109820 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALKBH5 chr17 18104594 18109820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALKBH5 chr17 18104594 18109820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALKBH5 chr17 18109501 18123000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALKBH5 chr17 18117960 18159046 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLII,LLGL1 chr17 18117960 18159046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLII,LLGL1 chr17 18117960 18159046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLII,LLGL1 chr17 18117987 18159013 Gain and loss Pancreatic cancer SNP array 17952125 FLII,LLGL1 chr17 1 81195210 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ABR,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGDIA,ARHGEF15,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ASPSCR1,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,AZI1,B3GNTL1,B4GALNT2,B9D1,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BCL6B,BECN1,BHLHA9,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf101,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf89,C17orf96,C17orf97,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC40,CCDC42,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHMP6,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRK,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DBIL5P,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DOC2B,DPH1,DPRXP4,DRG2,DUS1L,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF4A3,EIF5A,ELAC2,ELP5,EMC6,EME1,ENDOV,ENGASE,ENO3,ENPP7,ENTHD2,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM101B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM195B,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM57A,FAM64A,FAM83G,FASN,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FOXO3B,FSCN2,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GAA,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GCGR,GDPD1,GEMIN4,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLOD4,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXDC,HEXIM1,HEXIM2,HGS,HIC1,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INPP5K,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00482,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100506388,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284009,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METRNL,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1250,MIR1253,MIR1288,MIR132,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR212,MIR22,MIR22HG,MIR2909,MIR301A,MIR3064,MIR3065,MIR3183,MIR3184,MIR3185,MIR3186,MIR324,MIR338,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MNT,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYADML2,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1C,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXN,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OVCA2,OXLD1,P2RX1,P2RX5,P2RX5-TAX1BP3,P4HB,PAFAH1B1,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNA,PITPNA-AS1,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPF8,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RABEP1,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RILP,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF213,RNF222,RNF43,RNFT1,RNMTL1,RPA1,RPAIN,RPH3AL,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RTN4RL1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARF1,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SERPINF1,SERPINF2,SEZ6,SGCA,SGK494,SGSH,SGSM2,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SIRT7,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC26A11,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC38A10,SLC39A11,SLC43A2,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMG8,SMTNL2,SMURF2,SMYD4,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNORD91A,SNORD91B,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRR,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D16,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMM22,TIMP2,TK1,TLCD1,TLCD2,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TSPAN10,TSR1,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TUSC5,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,UTS2R,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VPS53,VTN,WBP2,WDR16,WDR45L,WDR81,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,YWHAE,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 18123001 18220500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLII,LLGL1,SMCR7,SMCR8,TOP3A chr17 1813312 1965348 Loss Lung cancer Array CGH 21203850 DPH1,HIC1,MIR132,MIR212,OVCA2,RTN4RL1,SMG6 chr17 18140806 18395498 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 EVPLL,FLII,LGALS9C,LLGL1,LOC339240,SHMT1,SMCR7,SMCR8,TOP3A chr17 18155943 18156690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLII chr17 18156801 18157566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLII chr17 18159319 18172094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLII,SMCR7 chr17 18159319 18172094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLII,SMCR7 chr17 18159441 18167109 Gain and loss Pancreatic cancer SNP array 17952125 FLII,SMCR7 chr17 18159441 18167242 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLII,SMCR7 chr17 18171912 18207581 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TOP3A chr17 18171912 18207581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOP3A chr17 18171912 18207581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOP3A chr17 18171913 18207581 Gain and loss Pancreatic cancer SNP array 17952125 TOP3A chr17 18175250 18350351 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EVPLL,LOC339240,SHMT1,SMCR8,TOP3A chr17 18175250 18387109 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EVPLL,LGALS9C,LOC339240,SHMT1,SMCR8,TOP3A chr17 18175250 18387109 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EVPLL,LGALS9C,LOC339240,SHMT1,SMCR8,TOP3A chr17 18194446 18194544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOP3A chr17 18195776 18223090 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMCR8,TOP3A chr17 18197045 18210215 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TOP3A chr17 18205453 18215819 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TOP3A chr17 18206023 18232090 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHMT1,SMCR8,TOP3A chr17 1820620 1820720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 18207677 18221344 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMCR8,TOP3A chr17 18216687 18387109 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EVPLL,LGALS9C,LOC339240,SHMT1,SMCR8,TOP3A chr17 18220501 18228000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMCR8 chr17 18221804 18233686 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHMT1,SMCR8 chr17 18221804 18233686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHMT1,SMCR8 chr17 18225283 18225353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMCR8 chr17 18228001 18479000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC144B,EVPLL,FAM106A,LGALS9C,LOC339240,SHMT1,SMCR8,USP32P2 chr17 18229719 18254555 Gain Normal Birdsuite, version 1.5.2 22087296 SHMT1,SMCR8 chr17 18229719 18296116 Loss,gain Normal Birdsuite, version 1.5.2 22087296 EVPLL,SHMT1,SMCR8 chr17 18237519 18245000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHMT1 chr17 18237558 18344438 Gain and loss Pancreatic cancer SNP array 17952125 EVPLL,LOC339240,SHMT1 chr17 18240721 18241289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHMT1 chr17 18250636 18250694 Gain and loss Pancreatic cancer SNP array 17952125 SHMT1 chr17 18250636 18250694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHMT1 chr17 18254543 18394150 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EVPLL,LGALS9C,LOC339240,SHMT1 chr17 18254555 18260587 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SHMT1 chr17 18255198 18258419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHMT1 chr17 18255575 18256241 Gain and loss Pancreatic cancer SNP array 17952125 SHMT1 chr17 18257918 18405311 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 EVPLL,LGALS9C,LOC339240,SHMT1 chr17 18260575 18394150 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EVPLL,LGALS9C,LOC339240,SHMT1 chr17 18260575 18415359 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EVPLL,LGALS9C,LOC339240,SHMT1,USP32P2 chr17 18260587 18296116 Gain or loss Normal Birdsuite, version 1.5.2 22087296 EVPLL,SHMT1 chr17 18260587 18381685 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 EVPLL,LGALS9C,LOC339240,SHMT1 chr17 18264372 18269134 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHMT1 chr17 18264372 18269134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHMT1 chr17 18267359 18294600 Gain and loss Pancreatic cancer SNP array 17952125 EVPLL chr17 18270966 18275887 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 18270966 18275887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18280000 18880000 Loss Breast cancer aCGH 21509527 CCDC144B,EVPLL,FAM106A,FAM18B1,FAM83G,FBXW10,FOXO3B,LGALS9C,LOC339240,PRPSAP2,SLC5A10,TBC1D28,TRIM16L,USP32P2,ZNF286B chr17 18283966 18286931 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EVPLL chr17 18283966 18286931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EVPLL chr17 18283966 18286931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVPLL chr17 18294283 18294804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18296105 18405299 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LGALS9C,LOC339240 chr17 18296117 18405946 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LGALS9C,LOC339240 chr17 18296117 18405946 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LGALS9C,LOC339240 chr17 18296117 18405946 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LGALS9C,LOC339240 chr17 18296994 18297101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18299662 18405934 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LGALS9C,LOC339240 chr17 18299662 18415359 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LGALS9C,LOC339240,USP32P2 chr17 18299663 18405933 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LGALS9C,LOC339240 chr17 18304430 18307094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18306658 18405934 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LGALS9C,LOC339240 chr17 18306658 18415359 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LGALS9C,LOC339240,USP32P2 chr17 18320820 18427061 Loss Autism 1M Ailent CGH whole-genome array 21865298 LGALS9C,LOC339240,USP32P2 chr17 18320824 18338983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC339240 chr17 18320824 18338983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC339240 chr17 18320824 18338983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339240 chr17 18320894 18338406 Gain and loss Pancreatic cancer SNP array 17952125 LOC339240 chr17 18329022 18343584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 18341485 18345074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18344355 18345074 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 18344355 18345074 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 18355302 18364845 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 18356418 18363695 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 18356418 18363695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18370333 18370842 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 18371596 18372500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18381842 18469646 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144B,FAM106A,LGALS9C,USP32P2 chr17 18381842 18469655 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144B,FAM106A,LGALS9C,USP32P2 chr17 18381842 18469655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B,FAM106A,LGALS9C,USP32P2 chr17 18381842 18469655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B,FAM106A,LGALS9C,USP32P2 chr17 18405946 18415371 Loss Normal Birdsuite, version 1.5.2 22087296 USP32P2 chr17 184117 193065 Gain Normal 244K array 17666407 RPH3AL chr17 18416760 18417140 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 USP32P2 chr17 18416791 18417000 Gain and loss Pancreatic cancer SNP array 17952125 USP32P2 chr17 18416791 18417000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP32P2 chr17 184202 184672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPH3AL chr17 18424239 18457000 Duplication Non-syndromic sensorineural hearing loss References 19212409 CCDC144B,FAM106A,USP32P2 chr1 71843355 71912987 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NEGR1 chr17 18449092 18449392 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144B chr17 18449092 18449393 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144B chr17 18449094 18449394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B chr17 18479001 18490250 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC144B chr17 18479567 18486462 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144B chr17 18479567 18486462 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144B chr17 18479567 18488465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B chr17 18479567 18488465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B chr17 18494394 18496737 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144B chr17 18494394 18496737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B chr17 18494402 18495580 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144B chr17 18505975 18525689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B chr17 18505975 18550933 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144B,TBC1D28 chr17 18514942 18515487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B chr17 18521299 18521797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144B chr17 18534461 18539282 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TBC1D28 chr17 18539508 18543257 Loss Normal Birdsuite, version 1.5.2 22087296 TBC1D28 chr17 18542053 18580157 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FOXO3B,TBC1D28,ZNF286B chr17 18566127 18580157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXO3B,ZNF286B chr17 18566127 18580157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXO3B,ZNF286B chr1 7185673 7185723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 18578195 18578510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF286B chr17 18578914 18579405 Gain and loss Pancreatic cancer SNP array 17952125 ZNF286B chr17 185815 185876 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 RPH3AL chr17 18588050 18623387 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 18588051 18623386 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 18588051 18623386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18588051 18623386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18588064 18623386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 1859247 1860243 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RTN4RL1 chr17 18618054 18734638 Duplication Normal Affymetrix 6.0 microarrays 20967226 FAM18B1,FBXW10,TRIM16L chr17 18625033 18650752 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FBXW10,TRIM16L chr17 18625140 18650752 Gain and loss Pancreatic cancer SNP array 17952125 FBXW10,TRIM16L chr17 18625318 18650751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXW10,TRIM16L chr17 18625318 18650751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXW10,TRIM16L chr17 1863600 1863868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RTN4RL1 chr17 1863630 1863868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RTN4RL1 chr17 18639082 18848079 Gain and loss Pancreatic cancer SNP array 17952125 FAM18B1,FBXW10,PRPSAP2,TRIM16L chr17 18679745 18686402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM18B1,FBXW10 chr17 18679745 18686402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM18B1,FBXW10 chr17 18684656 18684956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM18B1 chr17 18684657 18684958 Gain and loss Pancreatic cancer SNP array 17952125 FAM18B1 chr17 18684658 18684958 Gain and loss Pancreatic cancer SNP array 17952125 FAM18B1 chr17 18700367 18775306 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM18B1,PRPSAP2 chr17 18700367 18775306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM18B1,PRPSAP2 chr17 18700367 18775306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM18B1,PRPSAP2 chr17 18700387 18775305 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 FAM18B1,PRPSAP2 chr17 18702217 18775305 Gain and loss Pancreatic cancer SNP array 17952125 FAM18B1,PRPSAP2 chr17 18708790 18739268 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM18B1 chr17 18731864 18732888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 18731866 18732911 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr17 18752317 18752903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18763085 19135083 Gain Normal 244K array 17666407 FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 chr17 18771341 19132640 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 chr17 18771341 19132640 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 chr17 18771341 19132640 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 chr17 18788037 18788111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPSAP2 chr17 18788241 19132640 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 chr17 18794708 18864728 Gain and loss Pancreatic cancer SNP array 17952125 PRPSAP2,SLC5A10 chr17 18794714 18864729 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRPSAP2,SLC5A10 chr17 18794714 18864729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPSAP2,SLC5A10 chr17 18794714 18864729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPSAP2,SLC5A10 chr17 18794868 19299938 LOH Normal High-resolution SNP genotyping 21211785 B9D1,EPN2,EPN2-AS1,EPN2-IT1,FAM83G,GRAP,GRAPL,MAPK7,MFAP4,MIR1180,PRPSAP2,SLC5A10 chr17 18795073 18795142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRPSAP2 chr17 18795663 18798187 Gain and loss Pancreatic cancer SNP array 17952125 PRPSAP2 chr17 18795665 18798187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRPSAP2 chr17 18795665 18798187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPSAP2 chr17 18795665 18798187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPSAP2 chr17 1880156 1893469 Gain and loss Pancreatic cancer SNP array 17952125 RTN4RL1 chr17 1880181 1893474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL1 chr17 1880181 1893474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL1 chr17 18803001 18850000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRPSAP2 chr17 18812827 18848842 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRPSAP2 chr17 18812827 18848842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPSAP2 chr17 18812827 18848842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPSAP2 chr17 18823700 18845631 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 PRPSAP2 chr17 18837023 19933105 Amplification Cancer Affymetrix 250K Sty array 20164920 AKAP10,ALDH3A1,ALDH3A2,B9D1,EPN2,EPN2-AS1,EPN2-IT1,FAM83G,GRAP,GRAPL,MAPK7,MFAP4,MIR1180,RNF112,SLC47A1,SLC47A2,SLC5A10,SNORA59A,SNORA59B,SPECC1,ULK2 chr17 18854001 18860500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC5A10 chr17 18857610 18857710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC5A10 chr17 18860501 18941250 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM83G,GRAP,SLC5A10 chr17 18863807 19044654 Loss Barrett's syndrome BAC array 19417022 FAM83G,GRAP,GRAPL,SLC5A10 chr17 18864716 18891061 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM83G,SLC5A10 chr17 18864716 18891061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM83G,SLC5A10 chr17 18864716 18891061 Gain and loss Pancreatic cancer SNP array 17952125 FAM83G,SLC5A10 chr17 18864716 18891061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83G,SLC5A10 chr17 18876248 19034153 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM83G,GRAP,GRAPL,SLC5A10 chr17 18876248 19034153 Gain Normal Birdsuite, version 1.5.2 22087296 FAM83G,GRAP,GRAPL,SLC5A10 chr17 18878895 18880449 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM83G,SLC5A10 chr17 18878895 18880449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83G,SLC5A10 chr17 18880235 18880335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM83G,SLC5A10 chr17 18883249 18883334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM83G,SLC5A10 chr17 18900 9728900 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 ABR,ACADVL,ACAP1,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH10,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 18901 16486774 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,PMP22,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TBC1D26,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF287,ZNF594,ZSWIM7,ZZEF1 chr17 18901 19535432 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 18901 21459693 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 18901 22029237 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 18901 22691152 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 18901 5841540 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABR,ALOX15,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf107,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CHRNE,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DERL2,DHX33,DOC2B,DPH1,EMC6,ENO3,FAM101B,FAM57A,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIF1C,LOC100130950,LOC100506388,LOC284009,LOC339166,LOC728392,MED11,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MIS12,MNT,MYBBP1A,MYO1C,NLRP1,NUP88,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PITPNA,PITPNA-AS1,PLD2,PRPF8,PSMB6,RABEP1,RAP1GAP2,RILP,RNF167,RNMTL1,RPA1,RPAIN,RPH3AL,RTN4RL1,SCARF1,SCIMP,SERPINF1,SERPINF2,SGSM2,SHPK,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,UBE2G1,USP6,VMO1,VPS53,WDR81,YWHAE,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 18901 7490406 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABR,ACADVL,ACAP1,AIPL1,ALOX12,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ASGR1,ASGR2,ASPA,ATP2A3,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CD68,CHRNB1,CHRNE,CLDN7,CLEC10A,CRK,CTDNEP1,CTNS,CXCL16,CYB5D2,DBIL5P,DERL2,DHX33,DLG4,DOC2B,DPH1,DVL2,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,GABARAP,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GPS2,GSG2,HIC1,INCA1,INPP5K,ITGAE,KCTD11,KIAA0664,KIAA0753,KIF1C,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC339166,LOC728392,MED11,MED31,METTL16,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR4520A,MIR4520B,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYO1C,NEURL4,NLGN2,NLRP1,NUP88,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PHF23,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RAP1GAP2,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNMTL1,RPA1,RPAIN,RPH3AL,RTN4RL1,SCARF1,SCIMP,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SPAG7,SPATA22,SPEM1,SPNS2,SPNS3,SRR,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP6,VMO1,VPS53,WDR81,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 18901 883601 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C17orf97,DBIL5P,DOC2B,FAM101B,FAM57A,GEMIN4,GLOD4,LOC100506388,NXN,RNMTL1,RPH3AL,VPS53 chr17 18905950 18906165 Gain and loss Pancreatic cancer SNP array 17952125 FAM83G,SLC5A10 chr17 18905950 18906165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83G,SLC5A10 chr17 18905950 18906166 Gain and loss Pancreatic cancer SNP array 17952125 FAM83G,SLC5A10 chr17 18907958 18908174 Gain and loss Pancreatic cancer SNP array 17952125 FAM83G,SLC5A10 chr17 18907959 18908174 Gain and loss Pancreatic cancer SNP array 17952125 FAM83G,SLC5A10 chr17 18907959 18908174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83G,SLC5A10 chr17 18915293 19083446 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRAP,GRAPL,SLC5A10 chr17 1892027 1893475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL1 chr17 1892027 1893475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL1 chr17 18925751 19086055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRAP,GRAPL chr17 18926450 18929231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAP chr17 18937012 18940399 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRAP chr17 18937012 18940399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAP chr17 18941251 19172000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPN2,GRAP,GRAPL chr17 18948134 19112404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRAP,GRAPL chr17 18956458 18956674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 18956459 18956674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 18956459 18956674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18976757 19003214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 18976757 19003214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18976757 19003214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 18976757 19003214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 18982173 18983727 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 18982173 18983727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1899588 1900537 Gain Normal 244K array 17666407 RTN4RL1 chr17 1899952 1900052 Deletion Acute myeloid leukemia BAC aCGH 20962326 RTN4RL1 chr17 1899952 1900052 Gain and loss Pancreatic cancer SNP array 17952125 RTN4RL1 chr17 1899952 1900052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL1 chr17 18999765 19003150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 18999765 19003150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19002074 19002493 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 1900315 1900424 Gain and loss Pancreatic cancer SNP array 17952125 RTN4RL1 chr17 1900315 1900424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL1 chr17 19010934 19013706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19020297 19198517 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 EPN2,EPN2-IT1,GRAPL chr17 1902482 1903111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RTN4RL1 chr17 19031922 19032137 Gain and loss Pancreatic cancer SNP array 17952125 GRAPL chr17 19031922 19032137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAPL chr17 19033936 19034151 Gain and loss Pancreatic cancer SNP array 17952125 GRAPL chr17 19033936 19034151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAPL chr17 19034153 19070824 Gain Normal Birdsuite, version 1.5.2 22087296 GRAPL chr17 1905143 1909730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL1 chr17 1905143 1909730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4RL1 chr17 19052490 19055265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAPL chr17 19063049 19066433 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 19063049 19066433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 1906354 1908879 Gain and loss Pancreatic cancer SNP array 17952125 RTN4RL1 chr17 19063705 19064124 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 19081283 19180621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPN2,EPN2-IT1 chr17 19081283 19180621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPN2,EPN2-IT1 chr17 19081302 19180621 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPN2,EPN2-IT1 chr17 19081303 19180620 Gain and loss Pancreatic cancer SNP array 17952125 EPN2,EPN2-IT1 chr17 1909883 2153819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPH1,HIC1,MIR132,MIR212,OVCA2,RTN4RL1,SMG6 chr17 1909883 2153819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPH1,HIC1,MIR132,MIR212,OVCA2,RTN4RL1,SMG6 chr17 1909888 2220160 Gain and loss Pancreatic cancer SNP array 17952125 DPH1,HIC1,MIR132,MIR212,OVCA2,RTN4RL1,SMG6,SRR chr17 1 9100000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ABR,ACADVL,ACAP1,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHX33,DLG4,DNAH2,DOC2B,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH10,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP6,VAMP2,VMO1,VPS53,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 19109505 78599918 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,B9D1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf103,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf51,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144C,CCDC144NL,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT15L2,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHRS7B,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FAM27L,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFAP4,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1180,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA59A,SNORA59B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPECC1,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM11,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 19127616 19175498 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EPN2,EPN2-IT1 chr17 19136024 19211040 Amplification Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 EPN2,EPN2-AS1,EPN2-IT1 chr17 19155263 19155362 Gain and loss Pancreatic cancer SNP array 17952125 EPN2 chr17 19155263 19155362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPN2 chr17 19172001 19260500 Copy number Normal ReadDepth: A Parallel R Package 21305028 B9D1,EPN2,EPN2-AS1,EPN2-IT1,MIR1180 chr17 19182180 19183180 Loss Osteosarcoma References 21215367 EPN2 chr17 19187076 19206639 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPN2,EPN2-AS1 chr17 19187076 19206639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPN2,EPN2-AS1 chr17 19187076 19206639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPN2,EPN2-AS1 chr17 19187082 19206619 Gain and loss Pancreatic cancer SNP array 17952125 EPN2,EPN2-AS1 chr17 19188412 19188480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPN2 chr17 19211040 78181864 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,B9D1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf103,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf51,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC144C,CCDC144NL,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT15L2,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHRS7B,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENGASE,ENPP7,EPN2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FAM27L,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFAP4,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1180,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA59A,SNORA59B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPECC1,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM11,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 19221658 19227445 Copy number Lung cancer - 20668451 EPN2 chr17 19221658 19227445 Gain or loss Breast cancer - 20668451 EPN2 chr17 19221658 19227445 Gain or loss Cancer - 20668451 EPN2 chr17 19221658 19227445 Gain or loss Lung cancer - 20668451 EPN2 chr17 19221658 19227445 Gain or loss Ovarian cancer - 20668451 EPN2 chr17 19221658 19227445 Gain or loss Pancreas cancer - 20668451 EPN2 chr17 19221658 19227445 Gain or loss Prostate cancer - 20668451 EPN2 chr17 19221659 19227445 Gain and loss Pancreatic cancer SNP array 17952125 EPN2 chr17 19221659 19227450 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPN2 chr17 19221659 19227450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPN2 chr17 19221659 19227450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPN2 chr17 19227253 19227353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPN2 chr17 19227347 19231086 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EPN2 chr17 19227348 19231086 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPN2 chr17 19227348 19231086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPN2 chr17 19227348 19231086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPN2 chr17 19227349 19231086 Gain and loss Pancreatic cancer SNP array 17952125 EPN2 chr17 19255116 19261179 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 B9D1 chr17 19255116 19261179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B9D1 chr17 19255116 19261179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B9D1 chr17 19255230 19261179 Gain and loss Pancreatic cancer SNP array 17952125 B9D1 chr1 71926328 71926377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr17 19289875 19290757 Gain and loss Pancreatic cancer SNP array 17952125 MFAP4 chr17 19289875 19290757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFAP4 chr17 19296131 19296696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 19296131 19296696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19320120 19320220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF112 chr17 19340848 19341434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19348531 20957773 LOH Normal High-resolution SNP genotyping 21211785 AKAP10,ALDH3A1,ALDH3A2,CCDC144C,CCDC144NL,CDRT15L2,KRT16P3,LGALS9B,SLC47A1,SLC47A2,SNORA59A,SNORA59B,SPECC1,ULK2,USP22 chr17 19350718 19351024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 19358834 19358934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 19363885 19524790 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 SLC47A1,SNORA59A,SNORA59B chr17 193768 197043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPH3AL chr17 19377001 19378500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 19377759 19422938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19377759 19422938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 19377759 19422938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19377785 19422811 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 19394518 19394603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 19401465 19401616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 19412721 19412821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 19424112 19439830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19440316 19483953 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SLC47A1,SNORA59A,SNORA59B chr17 19442466 19442536 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19442466 19442536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19443490 19443558 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19443490 19443558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19445745 19445789 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19445745 19445789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19446119 19446161 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19446119 19446161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19446164 19447113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19447114 19447181 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19447179 19447250 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19447179 19447250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19447252 19447319 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19447252 19447319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19447342 19448955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19448954 19449021 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19448954 19449021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19449031 19449097 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19449031 19449097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19449100 19449172 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19449100 19449172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19449206 19449272 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19449272 19449337 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A1 chr17 19449272 19449337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 19449350 19449838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A1 chr17 194692 198788 Loss Normal 244K array 17666407 RPH3AL chr17 19484010 19484317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 19492641 19521501 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 19492641 19521501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19492641 19521501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19492655 19521500 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 19492683 19521495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 19493403 19493492 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 19493403 19493492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19505912 19505995 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 19505912 19505995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 195111 196048 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RPH3AL chr17 19512503 19512912 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 19522220 19560635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH3A2 chr17 19522220 19560635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH3A2 chr17 19522221 19560515 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALDH3A2 chr17 19522221 19560515 Gain and loss Pancreatic cancer SNP array 17952125 ALDH3A2 chr17 19545793 19545893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 19547001 19552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH3A2 chr17 19552501 19557500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH3A2 chr17 19557501 19564000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH3A2 chr17 19562964 19566054 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALDH3A2 chr17 19564001 19581000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH3A2 chr17 19572012 22159777 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AKAP10,ALDH3A1,ALDH3A2,C17orf103,C17orf51,CCDC144C,CCDC144NL,CDRT15L2,DHRS7B,FAM27L,FLJ36000,KCNJ12,KCNJ18,KRT16P3,LGALS9B,MAP2K3,MTRNR2L1,SLC47A2,SPECC1,TMEM11,ULK2,USP22 chr17 19581001 19589500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC47A2 chr17 19581889 19592338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC47A2 chr17 19581889 19592338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC47A2 chr17 19581889 19592338 Gain and loss Pancreatic cancer SNP array 17952125 SLC47A2 chr17 19581889 19592338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A2 chr17 19589501 19611000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC47A2 chr17 19599285 19600114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC47A2 chr17 19604264 19605264 Gain Osteosarcoma References 21215367 SLC47A2 chr17 19605371 19606371 Gain Osteosarcoma References 21215367 SLC47A2 chr17 19614735 19711822 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ALDH3A1,SLC47A2,ULK2 chr17 19614735 19711831 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ALDH3A1,SLC47A2,ULK2 chr17 19614736 19711841 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALDH3A1,SLC47A2,ULK2 chr17 19614736 19711841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH3A1,SLC47A2,ULK2 chr17 19614736 19711841 Gain and loss Pancreatic cancer SNP array 17952125 ALDH3A1,SLC47A2,ULK2 chr17 19614736 19711841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH3A1,SLC47A2,ULK2 chr17 19620902 19621002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 19684031 19684420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ULK2 chr17 19689156 19704946 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ULK2 chr17 19691974 19692029 Gain and loss Pancreatic cancer SNP array 17952125 ULK2 chr17 19691974 19692029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ULK2 chr17 19749344 19821721 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKAP10,ULK2 chr17 19749344 19821721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKAP10,ULK2 chr17 19749344 19821721 Gain and loss Pancreatic cancer SNP array 17952125 AKAP10,ULK2 chr17 19749344 19821721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP10,ULK2 chr17 1977475 1978083 Gain and loss Pancreatic cancer SNP array 17952125 SMG6 chr17 19802050 19815517 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AKAP10 chr17 19807626 19807713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 19841593 19841706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP10 chr17 19841594 19841705 Gain and loss Pancreatic cancer SNP array 17952125 AKAP10 chr17 19841599 19841681 Gain and loss Pancreatic cancer SNP array 17952125 AKAP10 chr17 19842897 19843299 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AKAP10 chr17 19853205 20158659 Gain or loss Breast cancer - 20668451 AKAP10,SPECC1 chr17 19853205 20158659 Gain or loss Cancer - 20668451 AKAP10,SPECC1 chr17 19853205 20158659 Gain or loss Lung cancer - 20668451 AKAP10,SPECC1 chr17 19853205 20158659 Gain or loss Ovarian cancer - 20668451 AKAP10,SPECC1 chr17 19853205 20158659 Gain or loss Pancreas cancer - 20668451 AKAP10,SPECC1 chr17 19853205 20158659 Gain or loss Prostate cancer - 20668451 AKAP10,SPECC1 chr17 19853206 20162931 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKAP10,SPECC1 chr17 19853206 20162931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKAP10,SPECC1 chr17 19853206 20162931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP10,SPECC1 chr17 19895436 19895536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 19899504 19900273 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 19900192 19900535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 19920000 19940000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 SPECC1 chr17 19927859 19927947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPECC1 chr17 19930926 20158544 Gain and loss Pancreatic cancer SNP array 17952125 SPECC1 chr17 19933386 20373764 Copy number Normal Quantitative Real-Time PCR 17666543 CCDC144C,LGALS9B,SPECC1 chr17 19955729 19956895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPECC1 chr17 19956568 20361452 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144C,LGALS9B,SPECC1 chr17 19970293 19970397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPECC1 chr17 19970294 19970388 Gain and loss Pancreatic cancer SNP array 17952125 SPECC1 chr17 19974985 20166343 Deletion Normal Affymetrix 6.0 microarrays 20967226 SPECC1 chr17 19986898 20031245 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPECC1 chr1 7200000 16200000 Copy number Hepatocellular carcinoma Quantitative real time PCR 18929564 AADACL3,AADACL4,AGMAT,AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf126,C1orf127,C1orf158,C1orf200,CA6,CAMTA1,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC16,DRAXIN,EFHD2,ENO1,ENO1-AS1,ERRFI1,EXOSC10,FBLIM1,FBXO2,FBXO44,FBXO6,FHAD1,FLJ37453,GPR157,H6PD,HNRNPCL1,KAZN,KIAA2013,KIF1B,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PARK7,PDPN,PER3,PEX14,PGD,PIK3CD,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RERE,RSC1A1,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SNORA59A,SNORA59B,SPEN,SPSB1,SRM,TARDBP,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF8,TNFRSF9,UBE4B,UBIAD1,UQCRHL,UTS2,VAMP3,VPS13D chr1 7200000 16200000 Copy number Neuroblastoma - 19287153 AADACL3,AADACL4,AGMAT,AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf126,C1orf127,C1orf158,C1orf200,CA6,CAMTA1,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC16,DRAXIN,EFHD2,ENO1,ENO1-AS1,ERRFI1,EXOSC10,FBLIM1,FBXO2,FBXO44,FBXO6,FHAD1,FLJ37453,GPR157,H6PD,HNRNPCL1,KAZN,KIAA2013,KIF1B,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PARK7,PDPN,PER3,PEX14,PGD,PIK3CD,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RERE,RSC1A1,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SNORA59A,SNORA59B,SPEN,SPSB1,SRM,TARDBP,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF8,TNFRSF9,UBE4B,UBIAD1,UQCRHL,UTS2,VAMP3,VPS13D chr17 20020000 21450000 Loss Acute lymphoblastic leukemia - 21339820 C17orf103,C17orf51,CCDC144C,CCDC144NL,CDRT15L2,DHRS7B,KCNJ12,KCNJ18,KRT16P3,LGALS9B,MAP2K3,SPECC1,TMEM11,USP22 chr17 20057621 20057721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPECC1 chr17 200697 200764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPH3AL chr17 20111990 23308272 Amplification Medulloblastoma Array CGH 16783165 C17orf103,C17orf51,CCDC144C,CCDC144NL,CDRT15L2,DHRS7B,FAM27L,FLJ36000,KCNJ12,KCNJ18,KRT16P3,LGALS9B,MAP2K3,MTRNR2L1,SPECC1,TMEM11,USP22 chr17 20119654 20119754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPECC1 chr17 20133875 20134138 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPECC1 chr1 7201563 7201631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 20160026 20234600 Loss or gain Normal 244K array 17666407 CCDC144C,SPECC1 chr17 20165052 20246097 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144C,SPECC1 chr17 20165069 20206205 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPECC1 chr17 20165069 20206205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPECC1 chr17 20165069 20206205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPECC1 chr17 20166905 20167014 Gain and loss Pancreatic cancer SNP array 17952125 SPECC1 chr17 20166905 20167014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPECC1 chr17 20170000 21840000 Loss Breast cancer aCGH 21509527 C17orf103,C17orf51,CCDC144C,CCDC144NL,CDRT15L2,DHRS7B,FAM27L,KCNJ12,KCNJ18,KRT16P3,LGALS9B,MAP2K3,SPECC1,TMEM11,USP22 chr17 20184648 20184948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPECC1 chr17 20184649 20184950 Gain and loss Pancreatic cancer SNP array 17952125 SPECC1 chr17 20184650 20184950 Gain and loss Pancreatic cancer SNP array 17952125 SPECC1 chr1 7202007 7202171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1 chr17 20209466 20241469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC144C,SPECC1 chr17 20219684 20220744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20221437 20379981 Amplification or deletion Cancer Array CGH 17440070 CCDC144C,LGALS9B chr17 20227887 20422653 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC144C,KRT16P3,LGALS9B chr17 20227887 20528134 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC144C,CDRT15L2,KRT16P3,LGALS9B chr17 20238037 20282814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC144C chr17 20259698 20260608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144C chr17 20261333 20262955 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144C chr17 20261333 20262955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144C chr1 72026165 72217293 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NEGR1 chr17 20268500 20274916 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144C chr17 20268500 20274916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144C chr17 20270927 20274916 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144C chr17 202809 18798804 Deletion Myelodysplastic syndrome - 21251322 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MED9,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 202809 22129948 Deletion Myelodysplastic syndrome - 21251322 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 20284932 20290677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC144C chr17 20284932 20290677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144C chr17 20285251 20312500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC144C chr17 20285952 20335955 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CCDC144C chr17 20293300 20312888 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC144C chr17 20293300 20312888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC144C chr17 20293300 20312888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC144C chr17 20293767 20311440 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 CCDC144C chr17 20293878 20311375 Gain and loss Pancreatic cancer SNP array 17952125 CCDC144C chr17 20312501 20336750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 20325234 20327907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20335243 20335349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20336751 20345000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 20337539 20338060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20345001 20366250 Copy number Normal ReadDepth: A Parallel R Package 21305028 LGALS9B chr17 20345421 20348386 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 20345421 20348386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20345421 20348386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20356465 20361384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGALS9B chr17 20363217 20372592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LGALS9B chr17 20363217 20372592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LGALS9B chr17 20363217 20372592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGALS9B chr17 20366251 20434500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT16P3,LGALS9B chr17 20374420 20374695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20380658 20640432 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDRT15L2,KRT16P3 chr17 20381675 20381733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20381675 20381733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20387385 20394868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20387385 20394868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20387386 20394829 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20389276 20393868 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 20396903 20398286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72040000 72150000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 NEGR1 chr17 20408441 20408779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20423629 20424816 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 20423629 20424816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20423649 20424628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20427663 20430363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20432963 20434605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20433198 20434274 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 20433198 20434274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20439442 20439609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20453367 20453515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20456465 20460003 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20456587 20457913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20457001 20459500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 20458283 20458705 Gain Normal 244K array 17666407 NOT_FOUND chr17 20460899 20461002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20491206 20525702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72051321 72051395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr17 20534500 20712063 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr17 205453 206418 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 20549240 20575451 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr17 20549240 21491135 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C17orf103,C17orf51,CCDC144NL,DHRS7B,KCNJ12,KCNJ18,MAP2K3,TMEM11,USP22 chr17 20549240 22029237 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C17orf103,C17orf51,CCDC144NL,DHRS7B,FAM27L,FLJ36000,KCNJ12,KCNJ18,MAP2K3,MTRNR2L1,TMEM11,USP22 chr17 20551630 20555157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 20554332 20554438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20559616 21208425 Amplification Breast cancer FISH 17142309 C17orf103,CCDC144NL,DHRS7B,MAP2K3,TMEM11,USP22 chr17 20560388 20581029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20560388 20581032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20586984 20599003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20586984 20599003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20587176 20599003 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 20593236 20598490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20603180 20603652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 20614971 20615328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20619355 20620809 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 20619515 20620805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20619515 20620805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20619554 20620781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20629078 20629632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20644164 20646285 Loss Normal 244K array 17666407 NOT_FOUND chr17 20684501 20688000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 20684952 20688162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20707302 20740045 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 20707302 20740045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20707302 20740045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20710976 20712389 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 20738438 20738544 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20738438 20738544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20745873 20746620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20753347 21191540 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 C17orf103,CCDC144NL,DHRS7B,MAP2K3,TMEM11,USP22 chr17 20763879 20766353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 20787355 20833322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC144NL chr17 20800584 20802307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20832251 20832351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 20838001 20842500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 20842501 20904500 Copy number Normal ReadDepth: A Parallel R Package 21305028 USP22 chr17 2084322 2084766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMG6 chr17 20843497 20887665 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 20843497 20887665 Gain or loss Cancer - 20668451 NOT_FOUND chr17 20843497 20887665 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 20843497 20887665 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 20843497 20887665 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 20843497 20887665 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 20843498 20886944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20843498 20886944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 20843502 20886944 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 20843502 20886944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 20871161 20871240 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 20904501 20906000 Copy number Normal ReadDepth: A Parallel R Package 21305028 USP22 chr17 20906001 21058000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHRS7B,USP22 chr17 20914594 20914656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP22 chr17 20928641 20932477 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 USP22 chr17 20970850 21035428 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DHRS7B chr17 20970850 21035428 Gain and loss Pancreatic cancer SNP array 17952125 DHRS7B chr17 20970859 21035428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHRS7B chr17 20970859 21035428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS7B chr17 20993453 20993587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 72101628 72343952 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NEGR1,NEGR1-IT1 chr1 72103015 74245163 LOH Normal High-resolution SNP genotyping 21211785 NEGR1,NEGR1-IT1 chr1 72103015 74697593 LOH Normal High-resolution SNP genotyping 21211785 FPGT,FPGT-TNNI3K,LRRIQ3,NEGR1,NEGR1-IT1 chr17 21041854 21058299 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 DHRS7B chr17 21041855 21058299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHRS7B chr17 21041855 21058299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS7B chr17 21041861 21058500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DHRS7B chr17 21041861 21058500 Gain and loss Pancreatic cancer SNP array 17952125 DHRS7B chr17 210486 210865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 21058001 21059000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHRS7B chr17 21059001 21084000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHRS7B chr17 21063475 22200000 LOH Normal High-resolution SNP genotyping 21211785 C17orf103,C17orf51,DHRS7B,FAM27L,FLJ36000,KCNJ12,KCNJ18,MAP2K3,MTRNR2L1,TMEM11 chr17 21073239 21073533 Gain and loss Pancreatic cancer SNP array 17952125 DHRS7B chr17 21073241 21073533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS7B chr17 21082780 21097315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DHRS7B chr17 21082780 21097315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHRS7B chr17 21082780 21097315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS7B chr17 21084001 21093500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHRS7B chr17 21087218 21097169 Gain and loss Pancreatic cancer SNP array 17952125 DHRS7B chr17 21093501 21127500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHRS7B,TMEM11 chr17 210966117 211031762 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr17 21103495 21103569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM11 chr17 21109127 58038015 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AA06,AARSD1,AATF,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,ADAP2,AKAP1,ALDOC,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATAD5,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BLMH,BRCA1,BZRAP1,BZRAP1-AS1,C17orf102,C17orf103,C17orf104,C17orf105,C17orf108,C17orf112,C17orf47,C17orf50,C17orf51,C17orf53,C17orf65,C17orf66,C17orf67,C17orf69,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5R1,CDK5RAP3,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CRHR1,CRLF3,CRYBA1,CSF3,CUEDC1,CWC25,DBF4B,DCAKD,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB5,EFTUD2,EIF1,EME1,EPN3,EPX,ERAL1,ERBB2,ETV4,EVI2A,EVI2B,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FAM222B,FAM27L,FBXL20,FBXO47,FKBP10,FLJ36000,FLJ40194,FLJ45513,FLOT2,FMNL1,FNDC8,FOXN1,FZD2,G6PC,G6PC3,GAS2L2,GAST,GDPD1,GFAP,GGNBP2,GHDC,GIP,GIT1,GJC1,GJD3,GNGT2,GOSR1,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNJ12,KCNJ18,KIAA0100,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3184,MIR3185,MIR3614,MIR365B,MIR423,MIR4315-1,MIR4315-2,MIR451A,MIR451B,MIR4522,MIR4523,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4732,MIR4733,MIR4734,MIR4736,MIR5010,MIR5089,MIR632,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MYCBPAP,MYL4,MYO18A,MYO19,MYO1D,NAGLU,NAGS,NARR,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C3L,NUFIP2,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PEX12,PGAP3,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,POLDIP2,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PROCA1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,RAB11FIP4,RAB34,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SARM1,SCPEP1,SCRN2,SDF2,SEBOX,SEPT4,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC25A39,SLC35B1,SLC35G3,SLC46A1,SLC4A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SMG8,SNF8,SNORA21,SNORD124,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STXBP4,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNRG,TAC4,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TBKBP1,TBX21,TCAP,TEFM,TEX14,TEX34,THRA,TIAF1,TLCD1,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM11,TMEM132E,TMEM199,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TTC25,TTLL6,TUBD1,TUBG1,TUBG2,UBE2Z,UBTF,UNC119,UNC45B,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 2112090 2129903 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SMG6 chr17 21127501 21134500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 21128560 21159144 Gain or loss Breast cancer - 20668451 C17orf103 chr17 21128560 21159144 Gain or loss Cancer - 20668451 C17orf103 chr17 21128560 21159144 Gain or loss Lung cancer - 20668451 C17orf103 chr17 21128560 21159144 Gain or loss Ovarian cancer - 20668451 C17orf103 chr17 21128560 21159144 Gain or loss Pancreas cancer - 20668451 C17orf103 chr17 21128560 21159144 Gain or loss Prostate cancer - 20668451 C17orf103 chr17 21128561 21159118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C17orf103 chr17 21128561 21159118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf103 chr17 21128561 21159118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf103 chr17 21128626 21159118 Gain and loss Pancreatic cancer SNP array 17952125 C17orf103 chr17 21134501 21149000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf103 chr17 21144429 21206026 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 C17orf103,MAP2K3 chr17 21155628 21184084 Copy number Lung cancer paired-end sequencing 18438408 C17orf103 chr17 21157001 21163000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 21166501 21181000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 21174375 21174475 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 21187668 21187840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 21188890 21188971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2K3 chr17 21191534 21939036 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf51,FAM27L,FLJ36000,KCNJ12,KCNJ18,MAP2K3 chr17 21193501 21201500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAP2K3 chr17 21200102 21201525 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP2K3 chr17 21201501 21242500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAP2K3 chr17 21220292 21260985 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21220292 21263772 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 21220292 21263772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21220292 21263772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21242501 21436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf51,KCNJ12,KCNJ18 chr17 21246527 21289471 Deletion Schizophrenia NimbleGen HD2 platform 21346763 KCNJ12 chr17 21251441 21251898 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr17 21257924 21260682 Gain Normal 244K array 17666407 NOT_FOUND chr17 21259375 21259375 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 21259962 21259962 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 21270135 21289534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNJ12 chr17 21272823 21470495 Gain Normal Birdsuite, version 1.5.2 22087296 C17orf51,KCNJ12,KCNJ18 chr17 21276220 21492779 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf51,KCNJ12,KCNJ18 chr17 21279166 21279261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 21283925 21471926 Loss Normal 244K array 17666407 C17orf51,KCNJ12,KCNJ18 chr17 21285362 21285452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNJ12 chr17 21286642 21495308 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf51,KCNJ12,KCNJ18 chr17 21295017 21472656 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C17orf51,KCNJ12,KCNJ18 chr17 21295017 21472656 Copy number gain Normal High-resolution SNP genotyping 21211785 C17orf51,KCNJ12,KCNJ18 chr17 21298088 21456857 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf51,KCNJ12,KCNJ18 chr17 21298088 21459693 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf51,KCNJ12,KCNJ18 chr17 21311601 21311601 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 KCNJ12,KCNJ18 chr17 21311601 21311601 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 KCNJ12,KCNJ18 chr17 21312213 21312270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ12,KCNJ18 chr17 21345725 21385241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21346127 22200000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1111K arrays 21546498 C17orf51,FAM27L,FLJ36000,MTRNR2L1 chr17 21348468 21348978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21348477 21348978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 7213686 7213850 Gain and loss Pancreatic cancer SNP array 17952125 CAMTA1 chr17 21373095 21373502 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 21373095 21373502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21373095 21373502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21376468 21395534 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 21395463 21395534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2141671 2141805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMG6 chr17 21421677 21421764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72143185 72187543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr17 21436501 21438000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf51 chr17 21445191 21476126 Deletion Schizophrenia NimbleGen HD2 platform 21346763 C17orf51 chr17 21445483 22311188 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C17orf51,FAM27L,FLJ36000,MTRNR2L1 chr17 21449435 68346547 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AA06,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACSF2,ADAM11,ADAP2,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BLMH,BPTF,BRCA1,BRIP1,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf112,C17orf47,C17orf50,C17orf51,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf78,C17orf79,C17orf82,C17orf96,C17orf98,C1QL1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CD79B,CDC27,CDC6,CDK12,CDK5R1,CDK5RAP3,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EME1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EZH1,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FAM27L,FBXL20,FBXO47,FKBP10,FLJ36000,FLJ40194,FLJ45513,FLOT2,FMNL1,FNDC8,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAS2L2,GAST,GDPD1,GFAP,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KIAA0100,KIF18B,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LHX1,LIG3,LIMD2,LINC00671,LINC00672,LINC00674,LOC100130581,LOC100131347,LOC100505782,LOC146880,LOC147093,LOC284080,LOC284100,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL2A,MGC57346,MIEN1,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR365B,MIR423,MIR4315-1,MIR4315-2,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MYCBPAP,MYL4,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C3L,NUFIP2,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRKAR1A,PRKCA,PROCA1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,RAB11FIP4,RAB34,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RGS9,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SARM1,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SEBOX,SEPT4,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A6,SLC25A39,SLC35B1,SLC35G3,SLC46A1,SLC4A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEX14,TEX2,TEX34,THRA,TIAF1,TLCD1,TLK2,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TTC25,TTLL6,TUBD1,TUBG1,TUBG2,UBE2Z,UBTF,UNC119,UNC45B,USP32,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 214574 218243 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21468000 78642000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FAM27L,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 21471897 21627596 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr17 21473462 21476932 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 21475414 22200000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1082K arrays 21546498 FAM27L,FLJ36000,MTRNR2L1 chr17 21476527 21485298 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 21476548 21485262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21476932 21485815 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 21480205 21501755 Gain Normal TaqMan assays 20972442 NOT_FOUND chr17 21485815 21489750 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 21489750 21856162 Loss Normal Birdsuite, version 1.5.2 22087296 FAM27L chr17 21491135 35542587 Duplication Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 AA06,AATF,ABHD15,ACACA,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS11,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FAM27L,FLJ36000,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MMP28,MRM1,MTRNR2L1,MYO18A,MYO19,MYO1D,NARR,NEK8,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,PEX12,PHF12,PIGS,PIGW,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830,ZNHIT3 chr17 2153001 2154500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMG6 chr17 2153998 2175303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMG6 chr17 2153998 2175303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG6 chr17 2156807 2157391 Gain and loss Pancreatic cancer SNP array 17952125 SMG6 chr17 215813 216146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 21617989 22569015 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FAM27L,FLJ36000,MTRNR2L1 chr17 21624144 21841587 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM27L chr17 21624144 21939036 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM27L,FLJ36000 chr17 21641572 78599918 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FAM27L,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 21645255 22143683 Duplication Normal Affymetrix 6.0 microarrays 20967226 FAM27L,FLJ36000,MTRNR2L1 chr17 21654000 21655891 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 21654000 21655891 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21654000 21655891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2165597 2175303 Gain and loss Pancreatic cancer SNP array 17952125 SMG6 chr17 217110 217511 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 72171311 72705751 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NEGR1,NEGR1-IT1 chr17 2172734 2187428 Gain and loss Pancreatic cancer SNP array 17952125 SMG6 chr17 2172742 2187428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMG6 chr17 2172742 2187428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG6 chr17 21728501 21730500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 21730501 21942500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM27L,FLJ36000 chr17 21733030 21841587 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM27L chr17 21733030 21939036 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM27L,FLJ36000 chr17 21733030 21939036 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM27L,FLJ36000 chr17 21733030 22014559 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM27L,FLJ36000 chr17 21746026 21746113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21749497 21750625 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 21749497 21750630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21749497 21750630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21750108 21750427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21755434 21779704 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 21773541 21775293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 21787829 21787929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 2179163 2179257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG6 chr17 21798167 21939036 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM27L,FLJ36000 chr17 2180320 2180414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG6 chr17 21815071 21939036 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM27L,FLJ36000 chr17 21817636 21827328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM27L chr17 21817700 21829101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM27L chr17 21818891 21827577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM27L chr17 21824042 21827396 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM27L chr17 21825379 22638278 LOH Normal High-resolution SNP genotyping 21211785 FAM27L,FLJ36000,MTRNR2L1 chr17 21826118 21827399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM27L chr17 21826610 21827364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21826617 21845534 Loss Stenocardia MACArray Karyo 106K BAC-chips 21860640 NOT_FOUND chr17 21826617 21845534 Loss Vasospasm MACArray Karyo 106K BAC-chips 21860640 NOT_FOUND chr17 21826644 21829611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21826796 21827574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21826866 21827610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21828188 21837197 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr17 21828652 21829524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21828753 21830118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21828949 21842708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21828950 21836973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21828960 21832872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21829779 21836428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21829793 21835447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21829900 21843897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21830067 21831125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21830141 21841041 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 21834469 21837197 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 21834469 21837197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21850381 22014559 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ36000 chr17 21850381 22014559 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ36000 chr17 2185501 2188500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMG6 chr17 21856162 21859450 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 2187556 2231094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMG6,SRR,TSR1 chr17 2187556 2231094 Gain and loss Pancreatic cancer SNP array 17952125 SMG6,SRR,TSR1 chr17 2187556 2231094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMG6,SRR,TSR1 chr17 2188501 2208000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMG6,SRR chr17 21913460 21973197 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 21915608 21973197 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 2192346 2247830 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SGSM2,SMG6,SNORD91A,SNORD91B,SRR,TSR1 chr17 21932837 21947898 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 21935538 21947898 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 21936912 21937061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 21942501 21956500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 21942958 21943026 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21942958 21943026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21944170 21944235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21944170 21944235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21944238 21944305 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21944238 21944305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21945465 21945844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21945492 21945562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21945492 21945562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21945583 21945844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21946467 22239815 Copy number Normal Quantitative Real-Time PCR 17666543 MTRNR2L1 chr17 21946483 21946551 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21946483 21946551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21948112 21948186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21948112 21948186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21949145 21949213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21949211 21949281 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21949211 21949281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21949284 21949351 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21949284 21949351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21950388 21950456 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21950388 21950456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21950465 21950532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21950465 21950532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21950534 21950606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21950534 21950606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21950639 21950704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21950639 21950704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21950717 21950759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21950717 21950759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21952305 21952376 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21952305 21952376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21952378 21952445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21952378 21952445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21953153 21953222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21953153 21953222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21954848 21954915 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21954848 21954915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21955261 21955328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 21955261 21955328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 21961787 21961867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 21975001 21979500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 21992001 21993500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 22045526 22170456 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr17 22045526 22465691 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr17 2206480 2206545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMG6 chr17 2208001 2253000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SGSM2,SNORD91A,SNORD91B,SRR,TSR1 chr17 221026 347876 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C17orf97,FAM101B chr17 22122672 22122762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 22162801 22314600 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 22168501 22292500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 22200000 22600602 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 22200000 22771685 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 22200000 22897447 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 22200000 22901474 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 22200000 23633791 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 22200000 28800000 Duplication T-cell acute lymphoblastic leukemia FISH 20065082 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 22200000 28800000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 22200000 28800000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 22200000 35400000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AA06,AATF,ABHD15,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS11,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MMP28,MRM1,MYO18A,MYO19,MYO1D,NARR,NEK8,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,PEX12,PHF12,PIGS,PIGW,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830,ZNHIT3 chr17 22200000 47600000 Copy number Cancer ICA method 16751803 AA06,AARSD1,AATF,ABHD15,ABI3,ACACA,ACBD4,ACLY,ADAM11,ADAP2,ALDOC,ANKRD13B,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATAD5,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BLMH,BRCA1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf50,C17orf53,C17orf65,C17orf66,C17orf69,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5R1,CDK5RAP3,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CORO6,CPD,CRHR1,CRLF3,CRYBA1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHRS13,DHX58,DHX8,DNAJC7,DPRXP4,DUSP14,DUSP3,EFCAB13,EFCAB5,EFTUD2,EIF1,ERAL1,ERBB2,ETV4,EVI2A,EVI2B,EZH1,FAM134C,FAM171A2,FAM215A,FAM222B,FBXL20,FBXO47,FKBP10,FLJ40194,FLOT2,FMNL1,FNDC8,FOXN1,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIP,GIT1,GJC1,GJD3,GNGT2,GOSR1,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIAA0100,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LSM12,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR144,MIR152,MIR193A,MIR196A1,MIR2117,MIR2909,MIR3184,MIR3185,MIR365B,MIR423,MIR4315-1,MIR4315-2,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR5010,MIR5089,MIR632,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL10,MRPL45,MRPL45P2,MSL1,MYL4,MYO18A,MYO19,MYO1D,NAGLU,NAGS,NARR,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NMT1,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C3L,NUFIP2,OMG,ORMDL3,OSBPL7,PCGF2,PEX12,PGAP3,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,POLDIP2,PPP1R1B,PPY,PPY2,PRAC,PROCA1,PRR15L,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,PYY2,RAB11FIP4,RAB34,RAB5C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RNF135,RPL19,RPL23,RPL23A,RPL27,RPRML,RUNDC1,RUNDC3A,SARM1,SCRN2,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SKAP1,SLC13A2,SLC25A39,SLC35G3,SLC46A1,SLC4A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNF8,SNORA21,SNORD124,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPPL2C,SRCIN1,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TBKBP1,TBX21,TCAP,TEFM,TEX34,THRA,TIAF1,TLCD1,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNS4,TOP2A,TP53I13,TRAF4,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UNC119,UNC45B,UTP6,VAT1,VPS25,VTN,WIPF2,WNK4,WNT3,WNT9B,WSB1,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 47600000 Gain T-cell lymphomas 250k GeneChip SNP array 19863542 AA06,AARSD1,AATF,ABHD15,ABI3,ACACA,ACBD4,ACLY,ADAM11,ADAP2,ALDOC,ANKRD13B,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATAD5,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BLMH,BRCA1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf50,C17orf53,C17orf65,C17orf66,C17orf69,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5R1,CDK5RAP3,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CORO6,CPD,CRHR1,CRLF3,CRYBA1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHRS13,DHX58,DHX8,DNAJC7,DPRXP4,DUSP14,DUSP3,EFCAB13,EFCAB5,EFTUD2,EIF1,ERAL1,ERBB2,ETV4,EVI2A,EVI2B,EZH1,FAM134C,FAM171A2,FAM215A,FAM222B,FBXL20,FBXO47,FKBP10,FLJ40194,FLOT2,FMNL1,FNDC8,FOXN1,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIP,GIT1,GJC1,GJD3,GNGT2,GOSR1,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIAA0100,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LSM12,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR144,MIR152,MIR193A,MIR196A1,MIR2117,MIR2909,MIR3184,MIR3185,MIR365B,MIR423,MIR4315-1,MIR4315-2,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR5010,MIR5089,MIR632,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL10,MRPL45,MRPL45P2,MSL1,MYL4,MYO18A,MYO19,MYO1D,NAGLU,NAGS,NARR,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NMT1,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C3L,NUFIP2,OMG,ORMDL3,OSBPL7,PCGF2,PEX12,PGAP3,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,POLDIP2,PPP1R1B,PPY,PPY2,PRAC,PROCA1,PRR15L,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,PYY2,RAB11FIP4,RAB34,RAB5C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RNF135,RPL19,RPL23,RPL23A,RPL27,RPRML,RUNDC1,RUNDC3A,SARM1,SCRN2,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SKAP1,SLC13A2,SLC25A39,SLC35G3,SLC46A1,SLC4A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNF8,SNORA21,SNORD124,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPPL2C,SRCIN1,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TBKBP1,TBX21,TCAP,TEFM,TEX34,THRA,TIAF1,TLCD1,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNS4,TOP2A,TP53I13,TRAF4,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UNC119,UNC45B,UTP6,VAT1,VPS25,VTN,WIPF2,WNK4,WNT3,WNT9B,WSB1,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Amplification Normal Refference 21823210 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Deletion duplication Neurofibromatosis High-resolution array CGH 20686819 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Deletion Neurofibromatosis High-resolution array CGH 20686819 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Deletion Peripheral nerve sheath tumors High-resolution array CGH 20686819 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Duplication Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Cancer - 21499728 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Glioblastoma multiforme CGH 19960244 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Hepatocellular carcinoma CGH 22174799 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Medulloblastoma FISH 21292688 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Medulloblastoma SNP arrays 21979893 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Neuroblastoma - 17897457 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Neuroblastoma - 18923524 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain Neuroblastoma Affymetrix 10K SNP array 17327916 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain or loss Breast cancer aCGH 21264507 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Gain or loss Endometrial cancer CGH 22040021 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 Increases Breast cancer Patient-specific Data Fusion 22028636 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200000 78774742 In Neuroblastoma FISH 21484798 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22200001 25800000 Duplication Breast cancer FISH 22042366 KSR1,MIR4522,TBC1D3P5,WSB1 chr1 72222209 72222619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEGR1 chr17 222711 366915 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C17orf97,FAM101B chr17 22287134 22311731 Gain Normal TaqMan assays 20972442 NOT_FOUND chr17 22292501 22331500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 22313712 22314501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 22319119 22328472 Gain Normal TaqMan assays 20972442 NOT_FOUND chr17 22324326 22367302 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr17 22335132 78089216 Gain Acute myeloid leukemia FISH 20724749 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EME1,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 2234105 2251104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM2,TSR1 chr17 2234105 2251104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM2,TSR1 chr17 2236945 2250756 Gain and loss Pancreatic cancer SNP array 17952125 SGSM2,TSR1 chr1 72237191 72308124 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NEGR1,NEGR1-IT1 chr17 223763 347876 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C17orf97,FAM101B chr17 22401874 24972817 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 NOT_FOUND chr17 22404432 30321894 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD15,ADAP2,ALDOC,ANKRD13B,ATAD5,BLMH,C17orf108,C17orf79,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MYO18A,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB11FIP4,RAB34,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,WSB1 chr17 22425988 22458455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 22434026 22435028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 22441001 22442500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 22479313 22877776 Amplification Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr1 72250782 72362529 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NEGR1,NEGR1-IT1 chr17 22533369 23072456 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 22543327 22543380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 2255606 2266129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM2 chr17 2255606 2266129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM2 chr17 22560667 22564508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 22560736 22562381 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 22565000 78598000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr1 72258884 72374107 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NEGR1,NEGR1-IT1 chr17 2259104 2259124 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SGSM2 chr17 22631590 22632053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 22631590 22632053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 22638278 34298107 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AA06,ABHD15,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FNDC8,FOXN1,GAS2L2,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MMP28,MYO18A,MYO1D,NARR,NEK8,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,PEX12,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TBC1D29,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830 chr17 22638278 35329793 Copy number gain Normal High-resolution SNP genotyping 21211785 AA06,AATF,ABHD15,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS11,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MMP28,MRM1,MYO18A,MYO19,MYO1D,NARR,NEK8,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,PEX12,PHF12,PIGS,PIGW,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830,ZNHIT3 chr17 22645233 22664772 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 22645233 22664772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 22645233 22664772 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 22645233 22664772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2266102 2361950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284009,METTL16,MNT,SGSM2 chr17 2266102 2361950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284009,METTL16,MNT,SGSM2 chr17 2266769 2268021 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SGSM2 chr17 22668501 22769000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 22681485 22716785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 22682442 29866716 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABHD15,ADAP2,ALDOC,ANKRD13B,ATAD5,BLMH,C17orf108,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37BP1,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4732,MIR4733,MYO18A,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB11FIP4,RAB34,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12P1,TAOK1,TBC1D29,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 2268539 2361930 Gain and loss Pancreatic cancer SNP array 17952125 LOC284009,METTL16,MNT,SGSM2 chr17 22716824 57174968 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 AA06,AARSD1,AATF,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,ADAP2,AKAP1,ALDOC,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATAD5,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BLMH,BRCA1,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf112,C17orf47,C17orf50,C17orf53,C17orf65,C17orf66,C17orf67,C17orf69,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5R1,CDK5RAP3,CHAD,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CRHR1,CRLF3,CRYBA1,CSF3,CUEDC1,CWC25,DBF4B,DCAKD,DDX52,DGKE,DHRS11,DHRS13,DHX58,DHX8,DLX3,DLX4,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB5,EFTUD2,EIF1,EME1,EPN3,EPX,ERAL1,ERBB2,ETV4,EVI2A,EVI2B,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FAM222B,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FLOT2,FMNL1,FNDC8,FOXN1,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIP,GIT1,GJC1,GJD3,GNGT2,GOSR1,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIAA0100,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR2117,MIR2909,MIR3184,MIR3185,MIR3614,MIR365B,MIR423,MIR4315-1,MIR4315-2,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR4736,MIR5010,MIR5089,MIR632,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,MYO18A,MYO19,MYO1D,NAGLU,NAGS,NARR,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C3L,NUFIP2,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PEX12,PGAP3,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,POLDIP2,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PROCA1,PRR15L,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,PYY2,RAB11FIP4,RAB34,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF43,RPL19,RPL23,RPL23A,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SARM1,SCPEP1,SCRN2,SDF2,SEBOX,SEPT4,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SKAP1,SLC13A2,SLC25A39,SLC35B1,SLC35G3,SLC46A1,SLC4A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNF8,SNORA21,SNORD124,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STXBP4,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNRG,TAC4,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TBKBP1,TBX21,TCAP,TEFM,TEX14,TEX34,THRA,TIAF1,TLCD1,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UNC119,UNC45B,UTP18,UTP6,VAT1,VEZF1,VPS25,VTN,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,WSB1,XYLT2,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 22743091 22788343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 22769001 22782500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 22781146 22781343 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 22782501 23000000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 22799036 23306227 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 22799869 22805265 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 22799869 22805265 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr17 22807797 22974545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 22807797 22974545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 22823162 22974845 Copy number Lung cancer - 20668451 NOT_FOUND chr17 22823162 22974845 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 22823162 22974845 Gain or loss Cancer - 20668451 NOT_FOUND chr17 22823162 22974845 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 22823162 22974845 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 22823162 22974845 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 22823162 22974845 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 2282986 2283074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGSM2 chr1 72285414 72285514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1,NEGR1-IT1 chr17 22877539 22878376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 22897447 27816011 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ALDOC,C17orf108,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN,WSB1 chr17 22899674 22899756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 22902614 23201246 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr17 22928684 22974844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 22980951 23000706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 22980951 23000706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 22980951 23000711 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 22997431 23100753 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr17 23000001 23028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 23005888 23006547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23005888 23006547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23054555 23054626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 23103001 23123000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 23107922 23151682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23107922 23151682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23107922 23151682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23107922 23151682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23118802 23118988 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr17 23123001 23150500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 72317292 72328395 Duplication Attention deficit hyperactivity disorder - 22138692 NEGR1 chr17 23200000 28800000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Copy number Normal - 21701786 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Deletion Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Deletion Acute monocytic leukemia - 18172006 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Deletion Liposarcoma FISH, CGH 21253554 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Deletion Normal - 22101487 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Deletion or duplication Neurofibromatosis high-density microarrays 22241247 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Deletion pediatric T-cell acute lymphoblastic leukemia - 18172006 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Deletion Smith-Magenis syndrome ref 20970697 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Duplication Potocki-lupski syndrome ref 20970697 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Loss Breast cancer aCGH 21045282 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Microdeletion Neurofibromatosis type 1 array CGH 20513137 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Microdeletion Neurofibromatosis type 1 high-resolution oligonucleotide array CGH 19767589 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Microdeletion Neurofibromatosis type 1 real-time quantitative PCR 17380155 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Microdeletion Neurofibromatosis type 1 RT-PCR 20844836 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Microdeletion or microduplication Neurofibromatosis type 1 from references 18923514 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 28800000 Microduplication Developmental delay aCGH 22241097 ABHD15,ALDOC,ANKRD13B,BLMH,C17orf108,CORO6,CPD,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 23200000 35400000 Gain,loss Breast cancer - 16397240 AA06,AATF,ABHD15,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS11,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MMP28,MRM1,MYO18A,MYO19,MYO1D,NARR,NEK8,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,PEX12,PHF12,PIGS,PIGW,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830,ZNHIT3 chr17 23200000 35400000 Loss Myxofibrosarcoma Array CGH 16751306 AA06,AATF,ABHD15,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS11,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MMP28,MRM1,MYO18A,MYO19,MYO1D,NARR,NEK8,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,PEX12,PHF12,PIGS,PIGW,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830,ZNHIT3 chr17 23200000 44800000 Breakpoint Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 AA06,AARSD1,AATF,ABHD15,ACACA,ACBD4,ACLY,ADAM11,ADAP2,ALDOC,ANKRD13B,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATAD5,ATP6V0A1,ATXN7L3,BECN1,BLMH,BRCA1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf50,C17orf53,C17orf65,C17orf66,C17orf69,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CACNB1,CASC3,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC6,CDK12,CDK5R1,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,CORO6,CPD,CRHR1,CRLF3,CRYBA1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHRS13,DHX58,DHX8,DNAJC7,DPRXP4,DUSP14,DUSP3,EFCAB5,EFTUD2,EIF1,ERAL1,ERBB2,ETV4,EVI2A,EVI2B,EZH1,FAM134C,FAM171A2,FAM215A,FAM222B,FBXL20,FBXO47,FKBP10,FLOT2,FMNL1,FNDC8,FOXN1,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIT1,GJC1,GJD3,GOSR1,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HSD17B1,HSPB9,IFI35,IFT20,IGFBP4,IKZF3,ITGA2B,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIAA0100,KIF18B,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS9,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LSM12,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR144,MIR193A,MIR2117,MIR2909,MIR3184,MIR365B,MIR423,MIR4315-1,MIR4315-2,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR5010,MIR632,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL45,MSL1,MYO18A,MYO19,MYO1D,NAGLU,NAGS,NARR,NBR1,NBR2,NEK8,NEUROD2,NF1,NKIRAS2,NLE1,NLK,NMT1,NOS2,NR1D1,NSF,NSFP1,NSRP1,NT5C3L,NUFIP2,OMG,ORMDL3,PCGF2,PEX12,PGAP3,PHF12,PIGS,PIGW,PIP4K2B,PIPOX,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,POLDIP2,PPP1R1B,PPY,PPY2,PROCA1,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,PYY2,RAB11FIP4,RAB34,RAB5C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RNF135,RPL19,RPL23,RPL23A,RPL27,RUNDC1,RUNDC3A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC25A39,SLC35G3,SLC46A1,SLC4A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNORA21,SNORD124,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SOCS7,SOST,SPACA3,SPAG5,SPAG5-AS1,SPPL2C,SRCIN1,SSH2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TCAP,TEFM,TEX34,THRA,TIAF1,TLCD1,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNS4,TOP2A,TP53I13,TRAF4,TTC25,TUBG1,TUBG2,UBTF,UNC119,UNC45B,UTP6,VAT1,VPS25,VTN,WIPF2,WNK4,WSB1,ZNF207,ZNF385C,ZNF830,ZNHIT3,ZPBP2 chr17 23200000 78774742 Gain Medulloblastoma SNP arrays 21979893 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 23229468 23244536 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23229468 23244536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23229523 23243474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23229523 23243474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23229523 23243474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72323056 72341953 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr17 23238049 23282864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 23292711 33304986 Copy number Lung cancer paired-end sequencing 18438408 AA06,ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,WSB1,ZNF207,ZNF830 chr17 23297991 24583299 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 23306227 24785808 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 23367977 24365146 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 23367977 24367066 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 23369923 23370060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23373483 23373615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23373483 23373617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23373483 23373617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23393309 23547529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23393309 23547529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23393309 23547534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23393309 23547534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23393814 23547531 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 23393814 23547531 Gain or loss Cancer - 20668451 NOT_FOUND chr17 23393814 23547531 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 23393814 23547531 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 23393814 23547531 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 23393814 23547531 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 23417473 23419293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23419482 23419580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23419482 23419580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23447841 23492790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 23520154 23520307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23530633 23530789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23533773 24473421 Gain Urothelial carcinoma array CGH validated by FISH 21177765 NOT_FOUND chr17 23571189 23571342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23572501 23804500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 23577967 23579216 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23578461 23578647 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23578461 23578647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23592532 23592685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23598597 23599439 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23598597 23599442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23598597 23599442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72359919 72359974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr17 23605638 23605782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23620191 23623058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23627611 23627706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23627822 23628565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23632292 23632445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2363633 77411833 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 23655222 23655373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23670248 23679837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23670248 23679837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23670353 23679377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23676764 23708866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 23679480 23686622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23679480 23686622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23679485 23686603 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23686913 23698160 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23686913 23698160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23686913 23698160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23686913 23698160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23697786 23708600 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23697786 23708600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23697786 23708600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23697787 23708600 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23708814 23713215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23708814 23713215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23708814 23713215 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23708814 23713215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23710831 23710957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23711233 23711378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23715417 23716392 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23715417 23716392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23715417 23716392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23715417 23716392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23718425 23721500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23718425 23721500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23718425 23721500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23718425 23721844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23723114 23752173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23723114 23752173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23723181 23752173 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23723253 23752192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23726569 25263387 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1087K arrays 21546498 NOT_FOUND chr17 23728959 23729112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23734269 23734422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23745788 23757355 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23745788 23757355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23745788 23757355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2374588 23757355 Copy number Autism exome sequencing 22495311 ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HS3ST3A1,HS3ST3B1,INCA1,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR195,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RPAIN,RPL26,RPL29P2,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMTNL2,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TTC19,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 23750179 23757355 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23750218 24362950 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 23750218 24365146 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 23750218 24913908 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 72376008 74027486 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr17 23773905 23820636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 23775585 23775738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23775933 78654742 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 23775933 78654742 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FAM222B,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC13A2,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 23780518 24913908 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 23781686 23781839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23802501 23809600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 23804501 23807000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 23804513 23807618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 23804530 23806501 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 23806525 23807622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 23807001 23844500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 23818941 23819587 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23818941 23819587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23818967 23819551 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23824791 23848514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23824791 23848514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23824791 23848514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23824858 23848923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23828961 23829102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23844501 23892000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 23873541 23873688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23875086 23889302 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23875086 23889302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23875086 23889302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23875086 23889302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23885020 24428572 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 23890749 23891080 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23890749 23891080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72389150 72578706 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NEGR1 chr17 23892001 24051000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 23897852 23903770 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23897852 23903770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23897852 23903770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23897852 23903770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23904532 23922664 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23904532 23922664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23904532 23922664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23904533 23922664 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23911672 23911822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23913832 23914357 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23913832 23914357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23924260 23928079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23924260 23928079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23924260 23928079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23924271 23928024 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23928735 23950424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23928735 23950424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23928735 23950424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23928735 23950424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23940414 23947377 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23940414 23947377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23953439 23953553 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23958639 23958792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23959109 23965338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23959109 23965338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23959109 23965338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23959109 23965338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23965586 23996300 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23965586 23996300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23965586 23996300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23965855 23995798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23999733 24013330 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 23999734 24013060 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 23999734 24013060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 23999734 24013060 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 23999734 24013060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24000000 25800000 Deletion Colorectal cancer GISTIC software 19359472 KSR1,MIR4522,TBC1D3P5,WSB1 chr17 24000000 38100000 Amplification Breast cancer BAC-arrays 17001317 AA06,AATF,ABHD15,ACACA,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ARHGAP23,ARL5C,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CDK5R1,CISD3,CORO6,CPD,CRLF3,CRYBA1,CWC25,DDX52,DHRS11,DHRS13,DPRXP4,DUSP14,EFCAB5,ERAL1,ERBB2,EVI2A,EVI2B,FAM222B,FBXL20,FBXO47,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,GPR179,GRB7,GSDMB,HNF1B,IFT20,IKZF3,KIAA0100,KRT18P55,KSR1,LASP1,LGALS9,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC37B,LRRC37BP1,LRRC3C,LYZL6,MED1,MIEN1,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR632,MLLT6,MMP28,MRM1,MRPL45,MYO18A,MYO19,MYO1D,NARR,NEK8,NEUROD2,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,ORMDL3,PCGF2,PEX12,PGAP3,PHF12,PIGS,PIGW,PIP4K2B,PIPOX,PLXDC1,PNMT,POLDIP2,PPP1R1B,PPY2,PROCA1,PSMB3,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL19,RPL23,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SOCS7,SPACA3,SPAG5,SPAG5-AS1,SRCIN1,SSH2,STAC2,STARD3,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TCAP,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 38100000 Amplification Breast cancer Scanning and OncoBAC array CGH, Affymetrix U133A arrays 17157792 AA06,AATF,ABHD15,ACACA,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ARHGAP23,ARL5C,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CDK5R1,CISD3,CORO6,CPD,CRLF3,CRYBA1,CWC25,DDX52,DHRS11,DHRS13,DPRXP4,DUSP14,EFCAB5,ERAL1,ERBB2,EVI2A,EVI2B,FAM222B,FBXL20,FBXO47,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,GPR179,GRB7,GSDMB,HNF1B,IFT20,IKZF3,KIAA0100,KRT18P55,KSR1,LASP1,LGALS9,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC37B,LRRC37BP1,LRRC3C,LYZL6,MED1,MIEN1,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR632,MLLT6,MMP28,MRM1,MRPL45,MYO18A,MYO19,MYO1D,NARR,NEK8,NEUROD2,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,ORMDL3,PCGF2,PEX12,PGAP3,PHF12,PIGS,PIGW,PIP4K2B,PIPOX,PLXDC1,PNMT,POLDIP2,PPP1R1B,PPY2,PROCA1,PSMB3,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL19,RPL23,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SOCS7,SPACA3,SPAG5,SPAG5-AS1,SRCIN1,SSH2,STAC2,STARD3,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TCAP,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 38100000 Gain Bladder cancer Affymetrix GeneChip Mapping 10K 2.0 19088036 AA06,AATF,ABHD15,ACACA,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ARHGAP23,ARL5C,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CDK5R1,CISD3,CORO6,CPD,CRLF3,CRYBA1,CWC25,DDX52,DHRS11,DHRS13,DPRXP4,DUSP14,EFCAB5,ERAL1,ERBB2,EVI2A,EVI2B,FAM222B,FBXL20,FBXO47,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,GPR179,GRB7,GSDMB,HNF1B,IFT20,IKZF3,KIAA0100,KRT18P55,KSR1,LASP1,LGALS9,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC37B,LRRC37BP1,LRRC3C,LYZL6,MED1,MIEN1,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR632,MLLT6,MMP28,MRM1,MRPL45,MYO18A,MYO19,MYO1D,NARR,NEK8,NEUROD2,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,ORMDL3,PCGF2,PEX12,PGAP3,PHF12,PIGS,PIGW,PIP4K2B,PIPOX,PLXDC1,PNMT,POLDIP2,PPP1R1B,PPY2,PROCA1,PSMB3,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL19,RPL23,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SOCS7,SPACA3,SPAG5,SPAG5-AS1,SRCIN1,SSH2,STAC2,STARD3,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P5,TCAP,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WSB1,ZNF207,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 81195210 Amplification Gastric cancer Array CGH 17167181 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FAM222B,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3184,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SIRT7,SKA2,SKAP1,SLC13A2,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,UTS2R,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 81195210 Copy number Breast cancer - 19287154 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FAM222B,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3184,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SIRT7,SKA2,SKAP1,SLC13A2,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,UTS2R,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 81195210 Copy number Leukemia qPCR 20874852 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FAM222B,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3184,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SIRT7,SKA2,SKAP1,SLC13A2,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,UTS2R,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 81195210 Gain Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FAM222B,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3184,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SIRT7,SKA2,SKAP1,SLC13A2,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,UTS2R,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 81195210 Gain Neuroblastoma Affymetrix 50K, 250K SNP arrays from 18664255 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FAM222B,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3184,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SIRT7,SKA2,SKAP1,SLC13A2,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,UTS2R,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 81195210 Gain Neuroblastoma Affymetrix U133 Plus 2 chip 17533364 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FAM222B,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3184,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SIRT7,SKA2,SKAP1,SLC13A2,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,UTS2R,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 81195210 Loss Human rectal carcinomas oligonucleotide arrays 16397240 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FAM222B,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3184,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SIRT7,SKA2,SKAP1,SLC13A2,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,UTS2R,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 24000000 81195210 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,ADAP2,AFMID,AKAP1,ALDOC,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHRS13,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FAM222B,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FLOT2,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FOXN1,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0100,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR144,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3184,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO18A,MYO19,MYO1D,NACA2,NAGLU,NAGS,NARF,NARR,NAT9,NBR1,NBR2,NEK8,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLK,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHF12,PHOSPHO1,PIGS,PIGW,PIP4K2B,PIPOX,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLDIP2,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL23A,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SECTM1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SGSH,SH3GL1P1,SH3GL1P2,SIRT7,SKA2,SKAP1,SLC13A2,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC46A1,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM199,TMEM235,TMEM92,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRAF4,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC119,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,UTS2R,VAT1,VEZF1,VMP1,VPS25,VTN,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WSB1,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 24013343 24053375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24013429 24053375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24013429 24053375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24013429 24053375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24015402 24015553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24030266 24030420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24041601 24045300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 24043455 24044133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 24051001 24101000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 2405229 77442758 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 24054661 24062999 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24054661 24062999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24054661 24062999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24054661 24062999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24065429 24069328 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24065429 24069328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24065429 24069328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24065430 24069328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24071018 24075500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24071127 24075500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24071147 24075078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24071695 24071761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24073727 24073798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24074574 24074637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24074575 24074636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24074826 24074899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24074827 24074898 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 2407518 2407604 Gain and loss Pancreatic cancer SNP array 17952125 METTL16 chr17 2407518 2407604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL16 chr17 24075504 24078077 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24075504 24078077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24075504 24078077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24075509 24077353 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 2407842 2408138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL16 chr17 2407886 2408138 Gain and loss Pancreatic cancer SNP array 17952125 METTL16 chr17 2407886 2408138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL16 chr17 24079567 27921023 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ABHD15,ALDOC,ANKRD13B,C17orf108,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 24079959 24093911 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24079959 24093911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24079959 24093911 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24079959 24093911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2409123 77451655 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 2409123 77451655 Gain or loss Breast cancer - 20668451 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 2409123 77451655 Gain or loss Cancer - 20668451 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 2409123 77451655 Gain or loss Lung cancer - 20668451 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 2409123 77451655 Gain or loss Ovarian cancer - 20668451 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 2409123 77451655 Gain or loss Pancreas cancer - 20668451 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 2409123 77451655 Gain or loss Prostate cancer - 20668451 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL16,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 24093092 24095700 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr17 24095149 24102103 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 24095149 24102103 Gain or loss Cancer - 20668451 NOT_FOUND chr17 24095149 24102103 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 24095149 24102103 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 24095149 24102103 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 24095149 24102103 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 24095149 24102103 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 24095150 24102103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24095150 24102103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24095150 24102103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24095166 24101223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24101001 24109500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24109415 24193967 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24109415 24193967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24109415 24193967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24109501 24110500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24110501 24114000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24112056 24310787 Amplification Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr17 24124073 24135448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 24128361 24162624 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 24137681 24279608 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr17 24185866 24185964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24186001 24230500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 2419735 77453916 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 24206153 24212201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24206153 24212201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24206160 24212204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24206160 24212204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24206168 24212198 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 24212513 24212584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24212513 24212584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24212677 24212762 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24212677 24212762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2421678 77462586 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACADVL,ACAP1,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,ADORA2B,ADPRM,AFMID,AIPL1,AKAP1,AKAP10,ALDH3A1,ALDH3A2,ALDOC,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,AMZ2,AMZ2P1,ANKFN1,ANKFY1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARHGAP44,ARHGEF15,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARRB2,ARSG,ASB16,ASGR1,ASGR2,ASIC2,ASPA,ATAD5,ATP1B2,ATP2A3,ATP5G1,ATP5H,ATP6V0A1,ATPAF2,ATXN7L3,AURKB,AXIN2,B4GALNT2,B9D1,BCAS3,BCL6B,BECN1,BIRC5,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf100,C17orf102,C17orf103,C17orf104,C17orf105,C17orf107,C17orf108,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf49,C17orf50,C17orf51,C17orf53,C17orf58,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf74,C17orf75,C17orf76-AS1,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf85,C17orf96,C17orf98,C17orf99,C1QBP,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CAMKK1,CAMTA2,CANT1,CASC3,CASKIN2,CBX1,CCDC103,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD68,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CEP112,CEP95,CHAD,CHD3,CHRNB1,CHRNE,CISD3,CLDN7,CLEC10A,CLTC,CNP,CNTD1,CNTNAP1,CNTROB,COA3,COASY,COG1,COIL,COL1A1,COPS3,COPZ2,CORO6,COX10,COX10-AS1,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CTC1,CTDNEP1,CTNS,CUEDC1,CWC25,CXCL16,CYB561,CYB5D1,CYB5D2,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DERL2,DGKE,DHRS11,DHRS13,DHRS7B,DHRS7C,DHX33,DHX40,DHX58,DHX8,DLG4,DLX3,DLX4,DNAH17,DNAH2,DNAH9,DNAI2,DNAJC7,DPRXP4,DRG2,DUSP14,DUSP3,DVL2,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFNB3,EFTUD2,EIF1,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,EME1,ENGASE,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EPN3,EPX,ERAL1,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EVPLL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM106A,FAM106CP,FAM117A,FAM134C,FAM171A2,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM20A,FAM211A,FAM215A,FAM222B,FAM27L,FAM64A,FAM83G,FBF1,FBXL20,FBXO39,FBXO47,FBXW10,FDXR,FGF11,FKBP10,FLCN,FLII,FLJ36000,FLJ40194,FLJ45079,FLJ45513,FLOT2,FMNL1,FNDC8,FOXJ1,FOXN1,FOXO3B,FTSJ3,FXR2,FZD2,G6PC,G6PC3,GABARAP,GALK1,GALR2,GAS2L2,GAS7,GAST,GDPD1,GFAP,GGA3,GGNBP2,GGT6,GH1,GH2,GHDC,GID4,GIP,GIT1,GJC1,GJD3,GLP2R,GLTPD2,GNA13,GNGT2,GOSR1,GOSR2,GP1BA,GPATCH8,GPR142,GPR179,GPRC5C,GPS2,GRAP,GRAPL,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,GSG2,GUCY2D,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HES7,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HS3ST3A1,HS3ST3B1,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IFT20,IGF2BP1,IGFBP4,IKZF3,INCA1,INTS2,ITGA2B,ITGA3,ITGAE,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNAB3,KCNH4,KCNH6,KCNJ12,KCNJ16,KCNJ18,KCNJ2,KCNJ2-AS1,KCTD11,KCTD2,KDM6B,KIAA0100,KIAA0195,KIAA0664,KIAA0753,KIF18B,KIF19,KIF1C,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRBA2,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT16P2,KRT16P3,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,KSR1,LASP1,LEPREL4,LGALS3BP,LGALS9,LGALS9B,LGALS9C,LHX1,LIG3,LIMD2,LINC00324,LINC00338,LINC00469,LINC00511,LINC00670,LINC00671,LINC00672,LINC00673,LINC00674,LINC00675,LLGL1,LLGL2,LOC100128288,LOC100130581,LOC100130950,LOC100131096,LOC100131347,LOC100287042,LOC100505782,LOC100506713,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284023,LOC284080,LOC284100,LOC339166,LOC339240,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC728392,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC48,LRRC59,LSM12,LSMD1,LUC7L3,LYZL6,MAGOH2,MAP2K3,MAP2K4,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPK7,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED11,MED13,MED24,MED31,MED9,MEIS3P1,MEOX1,METTL23,METTL2A,MFAP4,MFSD11,MFSD6L,MGAT5B,MGC12916,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MINK1,MIR10A,MIR1180,MIR1203,MIR1253,MIR1288,MIR142,MIR144,MIR152,MIR193A,MIR195,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR324,MIR33B,MIR3614,MIR3615,MIR365B,MIR3676,MIR3678,MIR423,MIR4314,MIR4315-1,MIR4315-2,MIR4316,MIR451A,MIR451B,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4731,MIR4732,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR497,MIR497HG,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MIR744,MIS12,MKS1,MLLT6,MLX,MMD,MMP28,MPDU1,MPO,MPP2,MPP3,MPRIP,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTRNR2L1,MTVR2,MXRA7,MYBBP1A,MYCBPAP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYL4,MYO15A,MYO15B,MYO18A,MYO19,MYO1D,MYOCD,NACA2,NAGLU,NAGS,NARR,NAT9,NBR1,NBR2,NCOR1,NDEL1,NEK8,NEURL4,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NLGN2,NLK,NLRP1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOS2,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NT5M,NTN1,NUFIP2,NUP85,NUP88,NXPH3,ODF4,OMG,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PCGF2,PCTP,PDK2,PECAM1,PELP1,PEMT,PER1,PEX12,PFAS,PFN1,PGAP3,PGS1,PHB,PHF12,PHF23,PHOSPHO1,PIGL,PIGS,PIGW,PIK3R5,PIK3R6,PIP4K2B,PIPOX,PIRT,PITPNC1,PITPNM3,PLCD3,PLD2,PLD6,PLEKHH3,PLEKHM1,PLEKHM1P,PLSCR3,PLXDC1,PMP22,PNMT,PNPO,POLDIP2,POLG2,POLR2A,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PPY2,PRAC,PRCD,PRKAR1A,PRKCA,PROCA1,PRPSAP1,PRPSAP2,PRR11,PRR15L,PSMB3,PSMB6,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,PYY2,QRICH2,RAB11FIP4,RAB34,RAB37,RAB5C,RABEP1,RAD51C,RAD51D,RAD51L3-RFFL,RAI1,RAMP2,RAMP2-AS1,RANGRF,RAP1GAP2,RAPGEFL1,RARA,RASD1,RASL10B,RBFOX3,RCVRN,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RNASEK,RNASEK-C17ORF49,RND2,RNF112,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF167,RNF222,RNF43,RNFT1,RPAIN,RPL19,RPL23,RPL23A,RPL26,RPL27,RPL29P2,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SARM1,SAT2,SCARNA16,SCARNA20,SCARNA21,SCIMP,SCN4A,SCO1,SCPEP1,SCRN2,SDF2,SDK2,SEBOX,SEC14L1,SENP3,SENP3-EIF4A1,SEPT4,SEPT9,SEZ6,SGCA,SGK494,SH3GL1P1,SH3GL1P2,SHBG,SHISA6,SHMT1,SHPK,SKA2,SKAP1,SLC13A2,SLC13A5,SLC16A11,SLC16A13,SLC16A5,SLC16A6,SLC25A11,SLC25A19,SLC25A35,SLC25A39,SLC2A4,SLC35B1,SLC35G3,SLC35G6,SLC39A11,SLC46A1,SLC47A1,SLC47A2,SLC4A1,SLC52A1,SLC5A10,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMCR5,SMCR7,SMCR8,SMCR9,SMG8,SMTNL2,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORA76,SNORD10,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD42A,SNORD42B,SNORD49A,SNORD49B,SNORD4A,SNORD4B,SNORD65,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX15,SOX9,SP2,SP6,SPACA3,SPAG5,SPAG5-AS1,SPAG7,SPAG9,SPATA20,SPATA22,SPDYE4,SPECC1,SPEM1,SPHK1,SPNS2,SPNS3,SPOP,SPPL2C,SRCIN1,SREBF1,SRP68,SRSF1,SRSF2,SSH2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STX8,STXBP4,SUMO2,SUPT4H1,SUPT6H,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TAX1BP3,TBC1D26,TBC1D28,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBC1D3P5,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEKT1,TEKT3,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIAF1,TIMP2,TK1,TLCD1,TLK2,TM4SF5,TMC6,TMC8,TMEM100,TMEM101,TMEM102,TMEM104,TMEM106A,TMEM106A-AS1,TMEM107,TMEM11,TMEM132E,TMEM199,TMEM220,TMEM235,TMEM88,TMEM92,TMEM95,TMEM97,TMEM98,TMEM99,TMIGD1,TMUB2,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOM1L2,TOP2A,TOP3A,TP53,TP53I13,TRAF4,TRAPPC1,TRIM16,TRIM16L,TRIM25,TRIM37,TRIM47,TRIM65,TRPV1,TRPV2,TRPV3,TSEN54,TTC19,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,TXNDC17,UBB,UBE2G1,UBE2O,UBE2Z,UBTF,ULK2,UNC119,UNC13D,UNC45B,UNK,USH1G,USP22,USP32,USP32P1,USP32P2,USP36,USP43,USP6,UTP18,UTP6,VAMP2,VAT1,VEZF1,VMO1,VMP1,VPS25,VTN,WBP2,WDR16,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,WRAP53,WSB1,WSCD1,XAF1,XYLT2,YBX2,YPEL2,ZACN,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF207,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF385C,ZNF594,ZNF624,ZNF652,ZNF830,ZNHIT3,ZPBP2,ZSWIM7,ZZEF1 chr17 24230479 24248841 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24230479 24248841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24230479 24248841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24230482 24248841 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 24230482 24248841 Gain or loss Cancer - 20668451 NOT_FOUND chr17 24230482 24248841 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 24230482 24248841 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 24230482 24248841 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 24230482 24248841 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 24230484 24248696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24230501 24239500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24239501 24248000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24248001 24254500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24248924 24254215 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 24248925 24254215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24248928 24254089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24248928 24254089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24248928 24254215 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24251131 24913488 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24256397 24302634 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24256417 24302634 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24256417 24302634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24256417 24302634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24300501 24354500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24306075 24357207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24306075 24357207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24306075 24357289 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24306075 24357584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24354501 24357500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 72435602 72435702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr17 243673 253559 Copy number Autism exome sequencing 22495311 NOT_FOUND chr17 24372464 24372784 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24379393 24917822 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24383076 24917822 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24390956 24913488 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24390956 24913908 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24394044 24408127 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24394044 24408362 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24394044 24408362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24394044 24408362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24424501 24442000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24424654 24531533 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24424654 24531533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24424654 24531533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24424654 24531556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24424663 24442663 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24424996 24425343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24429872 24521087 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 NOT_FOUND chr17 2443672 2535659 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PAFAH1B1 chr17 2443686 2535638 Gain and loss Pancreatic cancer SNP array 17952125 PAFAH1B1 chr17 2444011 2535638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAFAH1B1 chr17 2444011 2535638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAFAH1B1 chr17 24442001 24484500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24451601 24475255 Deletion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr1 72446599 72491103 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr1 72447012 72535215 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr17 24484501 24533000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24519305 24564517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 72454417 72598834 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 NEGR1 chr1 72454417 72598834 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NEGR1 chr17 24550825 25569488 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 72455349 72527045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr17 24554567 24555618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24554567 24555618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24560331 24595080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 2456111 2486747 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 72458600 72462648 Gain Normal 244K array 17666407 NEGR1 chr17 24598001 24605626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24598001 24605626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24598001 24605626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24598001 24605626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24598824 25729155 LOH Normal High-resolution SNP genotyping 21211785 MIR4522,WSB1 chr17 24601387 28216582 Deletion Acute myeloid leukemia - 21251322 ABHD15,ALDOC,ANKRD13B,C17orf108,CORO6,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TP53I13,TRAF4,UNC119,VTN,WSB1 chr17 24606981 24645292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24606981 24645292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24612772 24645262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24612772 24645262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24616122 24635155 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 72463446 72598834 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NEGR1 chr1 72463446 72598834 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NEGR1 chr1 72463689 72463789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr17 24641926 27576519 Gain Bladder cancer array-CGH 21909424 ALDOC,C17orf108,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR451A,MIR451B,MIR4522,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN,WSB1 chr1 72465474 72478194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr1 72467192 72475693 Loss or gain Normal 244K array 17666407 NEGR1 chr17 24679463 24771653 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 24681162 25222067 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24739704 24739773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24739704 24739827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24739704 24739833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24742069 24895628 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 24742069 24895628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24742069 24895628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24742069 24895628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72474649 72531566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr1 72474676 72534115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr1 72475787 72528255 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr1 72476416 72535407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEGR1 chr17 24775912 24776011 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24775912 24776011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72478515 72523662 Loss or gain Normal 244K array 17666407 NEGR1 chr17 24785808 24790970 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 72478788 73906923 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr17 24790318 24790412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 24796444 24796544 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24796444 24796544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24796446 24796544 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24836374 24839429 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 24911817 24918168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24911817 24918168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24911817 24918168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24917001 24949500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24917822 24947353 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24919797 24924300 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24919865 24924298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24919865 24924298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24924613 24940736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24924613 24940736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24924620 24940735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24931638 25690664 LOH Normal High-resolution SNP genotyping 21211785 MIR4522,WSB1 chr17 24934441 25555119 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24934441 25575365 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24934441 26767739 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,IFT20,KRT18P55,KSR1,LGALS9,MIR4522,MIR4723,NLK,NOS2,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TBC1D3P5,TMEM199,TMEM97,TNFAIP1,VTN,WSB1 chr17 24944612 24965904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24944612 24965904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24944633 24965904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24947353 26820626 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,IFT20,KRT18P55,KSR1,LGALS9,MIR4522,MIR4723,NLK,NOS2,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC13A2,SLC46A1,TBC1D3P5,TMEM199,TMEM97,TNFAIP1,VTN,WSB1 chr17 24949501 24962500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24954059 25575365 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 24962501 24974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 24965900 24973986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24965900 24974043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24965900 24974043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24977091 25281144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24977091 25281144 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24977091 25281144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24992735 24992846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 24992740 24992846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 24992769 24992846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25010778 25271160 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr17 25036291 31270365 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4522,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TBC1D3P5,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,WSB1,ZNF207 chr17 2505723 2505825 Gain and loss Pancreatic cancer SNP array 17952125 PAFAH1B1 chr17 2505723 2505825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAFAH1B1 chr1 72512661 72571186 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72512823 72513426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEGR1 chr17 25128763 25128888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25128794 25128888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 72513322 72583736 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72513322 72591187 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72514108 72514208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr1 72514119 72514314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr1 72515500 72624172 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NEGR1 chr1 72519109 72547710 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72519109 72556524 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72519109 72583724 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72519109 72584492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72519109 72595412 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72519121 72583721 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72519121 72583736 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72519121 72591187 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72519121 72591478 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72519135 72583736 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72519169 72583736 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr17 25193000 27295000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ALDOC,C17orf108,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR451A,MIR451B,MIR4522,MIR4723,MIR4732,NARR,NEK8,NLK,NOS2,PHF12,PIGS,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TBC1D3P5,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN,WSB1 chr1 72520262 73237082 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr17 25224101 25983100 Copy number Normal ReadDepth: A Parallel R Package 21305028 KSR1,LGALS9,MIR4522,TBC1D3P5,WSB1 chr1 72522436 72541492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72522436 72547710 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72522436 72551667 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72522436 72556524 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72522436 72583724 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72522436 72584492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72522436 72585028 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72522436 72595412 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72522942 72600553 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NEGR1 chr17 25233672 25233751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 25234150 25234252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25234150 25234252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 72526301 72538100 Deletion Glioma mate-paired sequence 20126413 NEGR1 chr17 25263387 25986342 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1088K arrays 21546498 KSR1,LGALS9,MIR4522,TBC1D3P5,WSB1 chr1 72527933 72528080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEGR1 chr1 72527959 72536624 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NEGR1 chr1 72528018 72610078 Copy number Alcoholism Illumina Human Hap660W-Quad BeadChip 21790672 NEGR1 chr1 72528018 72610078 Copy number Normal - 21790672 NEGR1 chr1 72528281 72536662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEGR1 chr1 72528689 72535946 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72528689 72584492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72528689 72589597 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72528701 72535958 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72528701 72535958 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NEGR1 chr1 72528701 72535958 Loss Normal Birdsuite, version 1.5.2 22087296 NEGR1 chr17 25292812 25459595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25292812 25459595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2530992 2531278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAFAH1B1 chr17 2531000 2531280 Gain and loss Pancreatic cancer SNP array 17952125 PAFAH1B1 chr17 2531000 2531280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAFAH1B1 chr17 25320327 25459595 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 72533432 72584492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72535401 72584538 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72535401 72584538 Total allelic loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72535947 72584491 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NEGR1 chr1 72535958 72541006 Loss Normal Birdsuite, version 1.5.2 22087296 NEGR1 chr1 72536874 72584538 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72536874 72584538 Total allelic loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72537301 72586300 Deletion Glioma mate-paired sequence 20126413 NEGR1 chr1 72537670 72584669 Deletion Normal TaqMan assays 20972442 NEGR1 chr17 2538501 2562500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PAFAH1B1 chr1 72538803 72584603 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NEGR1 chr1 72538803 72584603 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NEGR1 chr1 72538912 72584427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEGR1 chr1 72538943 72579511 Copy number Incontinentia Pigmenti Agilent SurePrint G4 one Million microarrays 22033527 NEGR1 chr1 72539001 72552000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEGR1 chr1 72539143 72579311 Insert Cancer ultra-high resolution array CGH 21272361 NEGR1 chr17 2539430 2554594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAFAH1B1 chr17 2539430 2554594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAFAH1B1 chr17 2539432 2562064 Gain and loss Pancreatic cancer SNP array 17952125 PAFAH1B1 chr1 72539743 72540094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEGR1 chr1 72539860 72583039 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72539860 72583039 Total allelic loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72539860 72584538 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72539860 72584538 Total allelic loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72539860 73177707 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72541006 72541504 Loss Normal Birdsuite, version 1.5.2 22087296 NEGR1 chr1 72541006 72583736 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72541006 72589609 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72541006 72591367 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72541006 72591478 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr17 25410196 25410291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25410198 25410291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25410199 25410291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 72541074 72583724 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72541074 72583724 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541074 72583724 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541074 72583749 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 NEGR1 chr1 72541074 72584492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541074 72584492 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541191 72583059 Substitutions and indels small cell lung cancer array-CGH 20016488 NEGR1 chr1 72541492 72581344 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541492 72583724 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541492 72584492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541504 72583736 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NEGR1 chr1 72541504 72583736 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NEGR1 chr1 72541512 72551850 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541512 72583724 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr1 72541512 72585028 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72541524 72583736 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NEGR1 chr17 2541715 2541785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAFAH1B1 chr17 25419776 25420778 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 72543581 72584538 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72543581 72584538 Total allelic loss Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72543719 72583724 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72543719 72585028 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72543719 72589343 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr17 25437876 26761082 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,IFT20,KRT18P55,KSR1,LGALS9,MIR4522,MIR4723,NLK,NOS2,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TBC1D3P5,TMEM199,TMEM97,TNFAIP1,VTN,WSB1 chr17 25454008 25537617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25454008 25537617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25467960 25537617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25468223 25468316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25468223 25468316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25474197 25474267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 25502112 27607887 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ALDOC,C17orf108,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR451A,MIR451B,MIR4522,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN,WSB1 chr1 72550248 72568068 Loss Urothelial carcinoma array CGH validated by FISH 21177765 NEGR1 chr1 72552001 72556500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEGR1 chr17 25545463 25586841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25545463 25586841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25549032 25586831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25549204 26259751 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,KSR1,LGALS9,MIR4522,NOS2,TBC1D3P5,WSB1 chr1 72556501 72560000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEGR1 chr1 72556617 72556717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr17 25575365 26426028 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,KSR1,LGALS9,MIR4522,NLK,NOS2,TBC1D3P5,WSB1 chr17 25575365 26827735 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,IFT20,KRT18P55,KSR1,LGALS9,MIR4522,MIR4723,NLK,NOS2,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC13A2,SLC46A1,TBC1D3P5,TMEM199,TMEM97,TNFAIP1,VTN,WSB1 chr17 25576451 26767739 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,IFT20,KRT18P55,KSR1,LGALS9,MIR4522,MIR4723,NLK,NOS2,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TBC1D3P5,TMEM199,TMEM97,TNFAIP1,VTN,WSB1 chr17 25588131 25588231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 25594925 25595020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 25594992 25595061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 25596932 25611165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 25599349 25643200 Gain and loss Pancreatic cancer SNP array 17952125 MIR4522,WSB1 chr17 25599349 25643204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4522,WSB1 chr17 25599349 25643204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4522,WSB1 chr1 72560001 72561500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEGR1 chr1 72561301 72583724 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72561301 72584492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr1 72561301 72591466 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr17 25613604 26191779 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 KSR1,LGALS9,MIR4522,NOS2,TBC1D3P5,WSB1 chr1 72561501 72584000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEGR1 chr17 2562501 2875500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0664,MIR1253,PAFAH1B1,RAP1GAP2 chr17 25639215 25639321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WSB1 chr17 25639216 25639321 Gain and loss Pancreatic cancer SNP array 17952125 WSB1 chr17 25639216 25639321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WSB1 chr17 25667492 25685191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25667492 25685197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25667492 25685197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25690664 26827735 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,IFT20,KRT18P55,KSR1,LGALS9,MIR4723,NLK,NOS2,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC13A2,SLC46A1,TBC1D3P5,TMEM199,TMEM97,TNFAIP1,VTN chr17 25690664 26960757 LOH Normal High-resolution SNP genotyping 21211785 ALDOC,C17orf108,FOXN1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR4723,NLK,NOS2,PIGS,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SGK494,SLC13A2,SLC46A1,SPAG5,SPAG5-AS1,TBC1D3P5,TMEM199,TMEM97,TNFAIP1,UNC119,VTN chr17 25695647 25695748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25695649 25695748 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25698623 25722559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 25711607 25711710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25711607 25711710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 25711607 25711717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 25730000 27680000 Gain Breast cancer aCGH 21509527 ALDOC,C17orf108,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,MIR144,MIR451A,MIR451B,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TBC1D3P5,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN chr17 25730110 25819825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KSR1,TBC1D3P5 chr17 25730110 25819825 Gain and loss Pancreatic cancer SNP array 17952125 KSR1,TBC1D3P5 chr17 25730110 25819825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR1,TBC1D3P5 chr17 25800000 31800000 Amplification Cancer Immunohistochemistry analysis 16799635 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Amplification Charcot-marie-tooth disease Array CGH 16909382 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Amplification Primary lung adenocarcinoma Immunohistochemistry analysis 16799635 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Copy number Alzheimer's disease Illumina Infinium II HumanHap550 BeadChip 19546859 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Copy number Low-grade astrocytoma Illumina HumanHap550K single-nucleotide polymorphism oligonucleotide arrays 19016743 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Copy number Neuroblastoma - 19287153 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Copy number Neurofibromatosis type 1 References 19566914 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Deletion Acute myeloid leukemia Human Genome CGH 44k microarrays 17377590 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Deletion Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Deletion Neurodevelopmental disorder References 17015230 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Deletion Neurofibromatosis Real-Time PCR 18196300 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Deletion Neurofibromatosis type 1 PCR 18800150 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Deletion Ovarian serous carcinoma Western Blot 19048115 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Deletion Plexiform neurofibroma PCR 18800150 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Gain Fibroblasts Bacterial Artificial Chromosome Array CGH 17951408 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Gain Hypertension references 17576883 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Gain Lung cancer Bacterial Artificial Chromosome Array CGH 17951408 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Gain Myelodysplastic syndrome Array CGH 18663149 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Loss Gastric cancer Array CGH 16891809 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 31800000 Loss Gastrointestinal stromal cancer MLPA 17209131 ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf108,C17orf75,C17orf79,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,KSR1,LGALS9,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLK,NOS2,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UTP6,VTN,ZNF207 chr17 25800000 38100000 Copy number Meningioma FISH 19431122 AA06,AATF,ABHD15,ACACA,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ARHGAP23,ARL5C,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CDK5R1,CISD3,CORO6,CPD,CRLF3,CRYBA1,CWC25,DDX52,DHRS11,DHRS13,DPRXP4,DUSP14,EFCAB5,ERAL1,ERBB2,EVI2A,EVI2B,FAM222B,FBXL20,FBXO47,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,GPR179,GRB7,GSDMB,HNF1B,IFT20,IKZF3,KIAA0100,KRT18P55,KSR1,LASP1,LGALS9,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC37B,LRRC37BP1,LRRC3C,LYZL6,MED1,MIEN1,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR632,MLLT6,MMP28,MRM1,MRPL45,MYO18A,MYO19,MYO1D,NARR,NEK8,NEUROD2,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,ORMDL3,PCGF2,PEX12,PGAP3,PHF12,PIGS,PIGW,PIP4K2B,PIPOX,PLXDC1,PNMT,POLDIP2,PPP1R1B,PPY2,PROCA1,PSMB3,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL19,RPL23,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SOCS7,SPACA3,SPAG5,SPAG5-AS1,SRCIN1,SSH2,STAC2,STARD3,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,ZNF207,ZNF830,ZNHIT3,ZPBP2 chr17 25800000 38100000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 AA06,AATF,ABHD15,ACACA,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ARHGAP23,ARL5C,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CDK5R1,CISD3,CORO6,CPD,CRLF3,CRYBA1,CWC25,DDX52,DHRS11,DHRS13,DPRXP4,DUSP14,EFCAB5,ERAL1,ERBB2,EVI2A,EVI2B,FAM222B,FBXL20,FBXO47,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,GPR179,GRB7,GSDMB,HNF1B,IFT20,IKZF3,KIAA0100,KRT18P55,KSR1,LASP1,LGALS9,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC37B,LRRC37BP1,LRRC3C,LYZL6,MED1,MIEN1,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR632,MLLT6,MMP28,MRM1,MRPL45,MYO18A,MYO19,MYO1D,NARR,NEK8,NEUROD2,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,ORMDL3,PCGF2,PEX12,PGAP3,PHF12,PIGS,PIGW,PIP4K2B,PIPOX,PLXDC1,PNMT,POLDIP2,PPP1R1B,PPY2,PROCA1,PSMB3,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL19,RPL23,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SOCS7,SPACA3,SPAG5,SPAG5-AS1,SRCIN1,SSH2,STAC2,STARD3,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,ZNF207,ZNF830,ZNHIT3,ZPBP2 chr17 25812412 25812512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR1 chr17 25828552 25877957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KSR1 chr17 25828552 25877957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR1 chr17 25828567 25875344 Gain and loss Pancreatic cancer SNP array 17952125 KSR1 chr1 72583039 74245163 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72584538 106736186 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCA4,ABCD3,ACADM,ACTG1P4,AGL,AK5,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CRYZ,CTBS,CYR61,DBT,DDAH1,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,EXTL2,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG5,GPR88,GTF2B,HFM1,HIAT1,HS2ST1,HSP90B3P,IFI44,IFI44L,KIAA1107,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRRC39,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR2682,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MSH4,MTF2,NEGR1,NEXN,ODF2L,OLFM3,PALMD,PIGK,PKN2,PRKACB,PTBP2,PTGFR,RABGGTB,RBMXL1,RNPC3,RNU6-6,RPAP2,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SEP15,SH3GLB1,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TRMT13,TTLL7,TYW3,UOX,USP33,VCAM1,WDR63,ZNF326,ZNF644,ZNHIT6,ZZZ3 chr1 72584538 107300946 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCA4,ABCD3,ACADM,ACTG1P4,AGL,AK5,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CRYZ,CTBS,CYR61,DBT,DDAH1,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,EXTL2,F3,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG5,GPR88,GTF2B,HFM1,HIAT1,HS2ST1,HSP90B3P,IFI44,IFI44L,KIAA1107,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRRC39,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR2682,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MSH4,MTF2,NEGR1,NEXN,ODF2L,OLFM3,PALMD,PIGK,PKN2,PRKACB,PTBP2,PTGFR,RABGGTB,RBMXL1,RNPC3,RNU6-6,RPAP2,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SEP15,SH3GLB1,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TRMT13,TTLL7,TYW3,UOX,USP33,VCAM1,WDR63,ZNF326,ZNF644,ZNHIT6,ZZZ3 chr1 72584538 109622260 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCA4,ABCD3,ACADM,ACTG1P4,AGL,AK5,AKNAD1,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,ASB17,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf173,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CTBS,CYR61,DBT,DDAH1,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,ELTD1,EPHX4,EVI5,EXTL2,F3,FAM102B,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNG5,GPR88,GPSM2,GTF2B,HENMT1,HFM1,HIAT1,HS2ST1,HSP90B3P,IFI44,IFI44L,KIAA1107,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRRC39,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR2682,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MSH4,MTF2,NBPF4,NBPF6,NEGR1,NEXN,NTNG1,ODF2L,OLFM3,PALMD,PIGK,PKN2,PRKACB,PRMT6,PRPF38B,PTBP2,PTGFR,RABGGTB,RBMXL1,RNPC3,RNU6-6,RPAP2,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SASS6,SEP15,SH3GLB1,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SRG7,SSX2IP,ST6GALNAC3,ST6GALNAC5,STXBP3,SYDE2,TAF13,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TNNI3K,TRMT13,TTLL7,TYW3,UOX,USP33,VAV3,VAV3-AS1,VCAM1,WDR47,WDR63,ZNF326,ZNF644,ZNHIT6,ZZZ3 chr1 72584538 112843008 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCA4,ABCD3,ACADM,ACTG1P4,ADORA3,AGL,AHCYL1,AK5,AKNAD1,ALG14,ALX3,AMIGO1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,ASB17,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf162,C1orf173,C1orf180,C1orf194,C1orf52,C1orf88,CCBL2,CCDC18,CD53,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CSF1,CTBS,CYB561D1,CYMP,CYR61,DBT,DDAH1,DDX20,DENND2D,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM212B,FAM40A,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HENMT1,HFM1,HIAT1,HS2ST1,HSP90B3P,IFI44,IFI44L,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRRC39,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR197,MIR2682,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MSH4,MTF2,MYBPHL,NBPF4,NBPF6,NEGR1,NEXN,NTNG1,ODF2L,OLFM3,OVGP1,PALMD,PGCP1,PIGK,PKN2,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGFR,RABGGTB,RAP1A,RBM15,RBMXL1,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SLC16A4,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SRG7,SSX2IP,ST6GALNAC3,ST6GALNAC5,STXBP3,SYDE2,SYPL2,TAF13,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TNNI3K,TRMT13,TTLL7,TYW3,UBL4B,UOX,USP33,VAV3,VAV3-AS1,VCAM1,WDR47,WDR63,WDR77,ZNF326,ZNF644,ZNHIT6,ZZZ3 chr1 72584538 115388085 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCA4,ABCD3,ACADM,ACTG1P4,ADORA3,AGL,AHCYL1,AK5,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf173,C1orf180,C1orf194,C1orf52,C1orf88,CAPZA1,CCBL2,CCDC18,CD53,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CSDE1,CSF1,CTBS,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM69A,FAM73A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HENMT1,HFM1,HIAT1,HIPK1,HS2ST1,HSP90B3P,IFI44,IFI44L,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LHX8,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAGI3,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR197,MIR2682,MIR4256,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MOV10,MSH4,MTF2,MYBPHL,NBPF4,NBPF6,NEGR1,NEXN,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHTF1,PIGK,PKN2,PPM1J,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGFR,PTPN22,RABGGTB,RAP1A,RBM15,RBMXL1,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SRG7,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SYDE2,SYPL2,SYT6,TAF13,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TNNI3K,TRIM33,TRMT13,TTLL7,TYW3,UBL4B,UOX,USP33,VAV3,VAV3-AS1,VCAM1,WDR47,WDR63,WDR77,WNT2B,ZNF326,ZNF644,ZNHIT6,ZZZ3 chr1 72584538 121186686 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCA4,ABCD3,ACADM,ACTG1P4,ADAM30,ADORA3,AGL,AHCYL1,AK5,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,AP4B1,AP4B1-AS1,ARHGAP29,ASB17,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf173,C1orf180,C1orf194,C1orf52,C1orf88,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CRYZ,CSDE1,CSF1,CTBS,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNAJB4,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FAM72B,FAM73A,FCGR1B,FLJ27354,FLJ31662,FNBP1L,FNDC7,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HENMT1,HFM1,HIAT1,HIPK1,HIST2H2BA,HMGCS2,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSP90B3P,IFI44,IFI44L,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LHX8,LINC00622,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,MAB21L3,MAGI3,MAN1A2,MCOLN2,MCOLN3,MGC27382,MIR137,MIR137HG,MIR197,MIR2682,MIR320B1,MIR4256,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR942,MOV10,MSH4,MTF2,MYBPHL,NBPF4,NBPF6,NBPF7,NEGR1,NEXN,NGF,NHLH2,NOTCH2,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHGDH,PHTF1,PIGK,PKN2,PPM1J,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGFR,PTGFRN,PTPN22,RABGGTB,RAP1A,RBM15,RBMXL1,REG4,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC44A5,SLC6A17,SNORA66,SNORD21,SNORD45A,SNORD45B,SNORD45C,SNX7,SORT1,SPAG17,SRG7,SSX2IP,ST6GALNAC3,ST6GALNAC5,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TAF13,TBX15,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TNNI3K,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,TTLL7,TYW3,UBL4B,UOX,USP33,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR77,WNT2B,ZNF326,ZNF644,ZNF697,ZNHIT6,ZZZ3 chr1 72584538 73508502 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72584538 73635237 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72584538 73650345 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72584538 73767826 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr1 72584538 74245163 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr17 25859163 25859263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR1 chr17 25859303 25859403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR1 chr17 25873517 25873617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KSR1 chr1 72587919 85749039 Substitutions and indels small cell lung cancer array-CGH 20016488 ACADM,AK5,ASB17,BCL10,C1orf173,C1orf180,C1orf52,CRYZ,CTBS,DNAJB4,DNASE2B,ELTD1,FAM73A,FPGT,FPGT-TNNI3K,FUBP1,GIPC2,GNG5,IFI44,IFI44L,LHX8,LOC646626,LPAR3,LPHN2,LRRIQ3,MCOLN2,MCOLN3,MGC27382,MIR4423,MIR548AP,MSH4,NEGR1,NEXN,PIGK,PRKACB,PTGFR,RABGGTB,RPF1,SAMD13,SLC44A5,SNORD45A,SNORD45B,SNORD45C,SSX2IP,ST6GALNAC3,ST6GALNAC5,SYDE2,TNNI3K,TTLL7,TYW3,UOX,USP33,WDR63,ZZZ3 chr17 25884706 26024708 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KSR1,LGALS9 chr17 25901604 25922975 Gain Normal 244K array 17666407 KSR1 chr17 25903001 25925000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KSR1 chr17 25904847 26119143 Substitutions and indels small cell lung cancer array-CGH 20016488 KSR1,LGALS9,NOS2 chr17 25904848 25908130 Gain and loss Pancreatic cancer SNP array 17952125 KSR1 chr17 25908256 25914633 Gain and loss Pancreatic cancer SNP array 17952125 KSR1 chr17 25910710 25914633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KSR1 chr17 25910710 25914633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR1 chr17 25918527 25922689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KSR1 chr17 25918527 25922689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR1 chr17 25925001 26056500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KSR1,LGALS9 chr17 25926265 26661176 LOH Normal High-resolution SNP genotyping 21211785 C17orf108,IFT20,KRT18P55,KSR1,LGALS9,NLK,NOS2,PPY2,PYY2,TMEM97 chr17 25927652 25985463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KSR1,LGALS9 chr17 25927652 25985463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR1,LGALS9 chr17 25927652 25987894 Gain and loss Pancreatic cancer SNP array 17952125 KSR1,LGALS9 chr17 25933378 25933485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR1 chr17 25933379 25933466 Gain and loss Pancreatic cancer SNP array 17952125 KSR1 chr17 25933379 25933466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KSR1 chr1 7259475 7259572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 25965000 35565000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 AA06,AATF,ABHD15,ACACA,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS11,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,LGALS9,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MMP28,MRM1,MYO18A,MYO19,MYO1D,NARR,NEK8,NF1,NLE1,NLK,NOS2,NSRP1,NUFIP2,OMG,PEX12,PHF12,PIGS,PIGW,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAF15,TAOK1,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,ZNF207,ZNF830,ZNHIT3 chr17 25965192 27475483 Deletion Acute myeloid leukemia - 21251322 ALDOC,C17orf108,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,LGALS9,MIR144,MIR451A,MIR451B,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,NOS2,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN chr17 25974129 25974229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LGALS9 chr17 25976143 26085650 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LGALS9,NOS2 chr17 2598122 2598226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0664 chr17 25983101 26362600 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf108,NOS2 chr17 25986342 39807761 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1089K arrays 21546498 AA06,AATF,ABHD15,ACACA,ADAP2,ALDOC,ANKRD13B,AP2B1,ARGFXP2,ARHGAP23,ARL5C,ASIC2,ATAD5,BLMH,C17orf102,C17orf108,C17orf50,C17orf66,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,CACNB1,CASC3,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR7,CCT6B,CDC6,CDK12,CDK5R1,CISD3,CORO6,CPD,CRLF3,CRYBA1,CSF3,CWC25,DDX52,DHRS11,DHRS13,DPRXP4,DUSP14,EFCAB5,ERAL1,ERBB2,EVI2A,EVI2B,FAM222B,FBXL20,FBXO47,FLOT2,FNDC8,FOXN1,GAS2L2,GGNBP2,GIT1,GJD3,GOSR1,GPR179,GRB7,GSDMA,GSDMB,HNF1B,IFT20,IGFBP4,IKZF3,KIAA0100,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT18P55,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LRRC37A11P,LRRC37B,LRRC37BP1,LRRC3C,LYZL6,MED1,MED24,MIEN1,MIR144,MIR193A,MIR2909,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4732,MIR4733,MIR4734,MIR632,MLLT6,MMP28,MRM1,MRPL45,MSL1,MYO18A,MYO19,MYO1D,NARR,NEK8,NEUROD2,NF1,NLE1,NLK,NOS2,NR1D1,NSRP1,NUFIP2,OMG,ORMDL3,PCGF2,PEX12,PGAP3,PHF12,PIGS,PIGW,PIP4K2B,PIPOX,PLXDC1,PNMT,POLDIP2,PPP1R1B,PPY2,PROCA1,PSMB3,PSMD11,PSMD3,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,RPL19,RPL23,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNORA21,SNORD124,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SNORD7,SOCS7,SPACA3,SPAG5,SPAG5-AS1,SRCIN1,SSH2,STAC2,STARD3,SUPT6H,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TEFM,THRA,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMEM99,TMIGD1,TNFAIP1,TNS4,TOP2A,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,WIPF2,ZNF207,ZNF830,ZNHIT3,ZPBP2 chr1 7259939 7260039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 26003000 27355000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ALDOC,C17orf108,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,MIR144,MIR451A,MIR451B,MIR4723,MIR4732,NARR,NEK8,NLK,NOS2,PHF12,PIGS,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN chr17 260434 273762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf97 chr17 260434 273762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf97 chr17 26053650 26053919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 26053650 26053919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26056501 26083500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 26082850 26109477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOS2 chr17 26082850 26109477 Gain and loss Pancreatic cancer SNP array 17952125 NOS2 chr17 26082850 26109477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOS2 chr17 26090000 26259000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 C17orf108,NOS2 chr17 26108458 26265366 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 C17orf108,NOS2 chr17 2612042 2612102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0664 chr17 26124994 26125107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOS2 chr17 26130735 29677311 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD15,ADAP2,ALDOC,ANKRD13B,ATAD5,BLMH,C17orf108,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,LRRC37BP1,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4732,MIR4733,MYO18A,NARR,NEK8,NF1,NLK,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P2,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM199,TMEM97,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,VTN chr17 26133830 26175826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 26133852 26175904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26133852 26175904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26137649 26137749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 72617420 72698482 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NEGR1 chr17 26183146 26246421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf108 chr17 26183146 26246421 Gain and loss Pancreatic cancer SNP array 17952125 C17orf108 chr17 26183146 26246421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf108 chr17 26185485 27216066 Deletion Cancer Affymetrix 250K Sty array 20164920 ALDOC,C17orf108,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,MIR144,MIR451A,MIR451B,MIR4723,MIR4732,NARR,NEK8,NLK,PIGS,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN chr17 26192807 26248120 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C17orf108 chr17 26212987 26213065 Gain and loss Pancreatic cancer SNP array 17952125 C17orf108 chr17 26212987 26213091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf108 chr17 26246407 26246464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 26250127 26257379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 26250133 26257379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26257157 26257236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 26261142 27104249 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ALDOC,FAM222B,FOXN1,IFT20,KIAA0100,KRT18P55,MIR4723,NARR,NEK8,NLK,PIGS,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN chr17 2627100 2887783 Gain and loss Pancreatic cancer SNP array 17952125 MIR1253,RAP1GAP2 chr17 26272880 26310335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26272880 26310335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26273059 26310335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 26310712 26310993 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 26310712 26310993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26322082 26351051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26322082 26351051 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 26322082 26351051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26322082 26351053 Copy number Autism exome sequencing 22495311 NOT_FOUND chr17 26350862 26746744 Deletion Normal Arbitrated Peel-off 21527027 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26350862 26746744 Deletion Normal GeneGISTIC 21527027 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26350862 26746744 Deletion Normal Standard peel-off 21527027 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26362601 33674300 Copy number Normal ReadDepth: A Parallel R Package 21305028 AA06,ABHD15,ADAP2,ALDOC,ANKRD13B,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf102,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,CDK5R1,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,FNDC8,FOXN1,GIT1,GOSR1,IFT20,KIAA0100,KRT18P55,LIG3,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4724,MIR4725,MIR4732,MIR4733,MIR632,MYO18A,MYO1D,NARR,NEK8,NF1,NLE1,NLK,NSRP1,NUFIP2,OMG,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PSMD11,PYY2,RAB11FIP4,RAB34,RAD51D,RAD51L3-RFFL,RFFL,RHBDL3,RHOT1,RNF135,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SH3GL1P1,SH3GL1P2,SLC13A2,SLC35G3,SLC46A1,SLC6A4,SLFN5,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPACA3,SPAG5,SPAG5-AS1,SSH2,SUPT6H,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TLCD1,TMEM132E,TMEM199,TMEM97,TMEM98,TMIGD1,TNFAIP1,TP53I13,TRAF4,UNC119,UNC45B,UTP6,VTN,ZNF207,ZNF830 chr17 26398305 26402261 Gain and loss Pancreatic cancer SNP array 17952125 NLK chr17 26421552 26421652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLK chr17 26438606 26453055 Deletion Glioblastoma multiforme Array CGH 19115005 NLK chr17 26446120 26728821 Copy number Lung cancer - 20668451 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Deletion Glioblastoma Agilent 244K, Affymetrix SNP6.0 and Illumina 550K 18772890 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Deletion Glioblastoma multiforme Illumina SNP arrays 22286061 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Deletion Normal GISTIC2.0 21527027 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Gain or loss Breast cancer - 20668451 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Gain or loss Cancer - 20668451 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Gain or loss Lung cancer - 20668451 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Gain or loss Ovarian cancer - 20668451 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Gain or loss Pancreas cancer - 20668451 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Gain or loss Prostate cancer - 20668451 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Microdeletion Neuroendocrine carcinoma References 19617690 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Microdeletion Neurofibromatosis type 1 Cytogenetics Whole Genome 2.7M Array 21532985 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Microdeletion Neurofibromatosis type 1 FISH 19278970 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Microdeletion Neurofibromatosis type 1 FISH 21031083 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Microdeletion NF1 microdeletion syndrome MLPA 22283845 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Microduplication early-onset of baldness dental enamel hypoplasia CGH 18183042 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Microduplication Mental retardation CGH 18183042 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446120 26728821 Microduplications Down syndrome array CGH 22511594 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446121 26728817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446121 26728817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446121 26728821 Copy number Autism exome sequencing 22495311 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26446243 26725590 Gain and loss Pancreatic cancer SNP array 17952125 IFT20,KRT18P55,MIR4723,NLK,POLDIP2,PPY2,PYY2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 2646481 2887785 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MIR1253,RAP1GAP2 chr17 2646482 2884500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR1253,RAP1GAP2 chr17 2646482 2884500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR1253,RAP1GAP2 chr17 26481501 26482500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NLK chr17 26490000 27520000 Loss Acute lymphoblastic leukemia - 21339820 ALDOC,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,IFT20,KIAA0100,KRT18P55,MIR144,MIR451A,MIR451B,MIR4723,MIR4732,MYO18A,NARR,NEK8,NLK,PHF12,PIGS,PIPOX,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN chr17 26532345 26568338 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 PYY2 chr17 26532931 26532931 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 26540239 27138320 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDOC,FAM222B,FOXN1,IFT20,KIAA0100,KRT18P55,MIR4723,NARR,NEK8,PIGS,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN chr17 26540239 27138320 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDOC,FAM222B,FOXN1,IFT20,KIAA0100,KRT18P55,MIR4723,NARR,NEK8,PIGS,POLDIP2,PPY2,PROCA1,PYY2,RAB34,RPL23A,SARM1,SDF2,SEBOX,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TLCD1,TMEM199,TMEM97,TNFAIP1,TRAF4,UNC119,VTN chr17 26567739 26626308 Gain Autism 1M Ailent CGH whole-genome array 21865298 KRT18P55,PPY2 chr17 26576214 26734130 Deletion Neurofibromatosis type 1 ABI Prism 3100 Genetic Analyzer 18212816 IFT20,KRT18P55,MIR4723,POLDIP2,SARM1,SEBOX,SLC46A1,TMEM199,TMEM97,TNFAIP1,VTN chr17 26594001 26596000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 26606947 26607015 Gain and loss Pancreatic cancer SNP array 17952125 KRT18P55 chr17 26606947 26607015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT18P55 chr17 26611486 26611711 Deletion Neurofibromatosis Real-Time PCR 18196300 KRT18P55 chr17 26612781 26613078 Deletion Neurofibromatosis Real-Time PCR 18196300 KRT18P55 chr17 26614112 26614421 Deletion Neurofibromatosis Real-Time PCR 18196300 KRT18P55 chr17 26616287 26616583 Deletion Neurofibromatosis Real-Time PCR 18196300 KRT18P55 chr17 26642254 28641850 Deletion Neurofibromatosis Real-Time PCR 18196300 ABHD15,ALDOC,ANKRD13B,BLMH,CORO6,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,MIR144,MIR3184,MIR423,MIR451A,MIR451B,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NSRP1,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PROCA1,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SLC6A4,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TP53I13,TRAF4,UNC119,VTN chr17 26645778 28282024 Deletion Acute myeloid leukemia - 21251322 ABHD15,ALDOC,ANKRD13B,CORO6,CRYBA1,DHRS13,EFCAB5,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,IFT20,KIAA0100,MIR144,MIR451A,MIR451B,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PROCA1,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TIAF1,TLCD1,TMEM199,TMEM97,TNFAIP1,TP53I13,TRAF4,UNC119,VTN chr17 26645795 26648377 Gain and loss Pancreatic cancer SNP array 17952125 TMEM97 chr17 26645795 26648481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM97 chr17 26645795 26648481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM97 chr17 26646606 26646625 Deletion Neurofibromatosis Real-Time PCR 18196300 TMEM97 chr17 26647173 26647192 Deletion Neurofibromatosis Real-Time PCR 18196300 TMEM97 chr17 26654917 26665217 Gain and loss Pancreatic cancer SNP array 17952125 IFT20,TMEM97,TNFAIP1 chr17 26654917 26665256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT20,TMEM97,TNFAIP1 chr17 26654917 26665256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT20,TMEM97,TNFAIP1 chr17 26668802 26672835 Gain and loss Pancreatic cancer SNP array 17952125 TNFAIP1 chr17 26668802 26672843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFAIP1 chr17 26668802 26672843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFAIP1 chr17 26673150 26673305 Deletion Neurofibromatosis Real-Time PCR 18196300 TNFAIP1 chr17 26676955 26677471 Deletion Neurofibromatosis Real-Time PCR 18196300 POLDIP2 chr17 26677010 28109086 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABHD15,ALDOC,ANKRD13B,CORO6,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,GIT1,KIAA0100,MIR144,MIR451A,MIR451B,MIR4523,MIR4723,MIR4732,MYO18A,NARR,NEK8,NUFIP2,PHF12,PIGS,PIPOX,POLDIP2,PROCA1,RAB34,RPL23A,SARM1,SDF2,SEBOX,SEZ6,SGK494,SLC13A2,SLC46A1,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SSH2,SUPT6H,TAOK1,TIAF1,TLCD1,TMEM199,TP53I13,TRAF4,UNC119,VTN chr17 26678618 26679028 Deletion Neurofibromatosis Real-Time PCR 18196300 POLDIP2 chr1 72668221 72668309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEGR1 chr17 26683718 26684067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POLDIP2 chr17 26683719 26684067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POLDIP2 chr17 2668540 26668420 Deletion Neurofibromatosis Real-Time PCR 18196300 ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,C17orf100,C17orf103,C17orf107,C17orf108,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HS3ST3A1,HS3ST3B1,IFT20,INCA1,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KRT18P55,KSR1,LGALS9,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1288,MIR195,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLK,NLRP1,NOS2,NT5M,NTN1,NUP88,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,P2RX1,P2RX5,P2RX5-TAX1BP3,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PPY2,PRPSAP2,PSMB6,PYY2,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RPAIN,RPL26,RPL29P2,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMTNL2,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,STX8,TAX1BP3,TBC1D26,TBC1D28,TBC1D3P5,TEKT1,TEKT3,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TMEM97,TNFAIP1,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TTC19,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,WDR16,WRAP53,WSB1,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 26692292 26692904 Deletion Neurofibromatosis Real-Time PCR 18196300 NOT_FOUND chr17 267001 836500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DBIL5P,FAM101B,FAM57A,GEMIN4,GLOD4,NXN,RNMTL1,VPS53 chr17 26709590 26709800 Deletion Neurofibromatosis Real-Time PCR 18196300 SARM1 chr17 26711564 26711914 Deletion Neurofibromatosis Real-Time PCR 18196300 SARM1 chr17 26724945 26725307 Deletion Neurofibromatosis Real-Time PCR 18196300 SARM1,SLC46A1 chr17 26739501 26954000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDOC,FOXN1,KIAA0100,PIGS,SGK494,SLC13A2,SPAG5,SPAG5-AS1,UNC119 chr17 26742768 26886401 Gain and loss Pancreatic cancer SNP array 17952125 FOXN1,PIGS,SLC13A2,UNC119 chr17 26742768 26889356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXN1,PIGS,SLC13A2,UNC119 chr17 26742768 26889356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN1,PIGS,SLC13A2,UNC119 chr17 26763614 27289284 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ALDOC,DHRS13,ERAL1,FAM222B,FLOT2,FOXN1,KIAA0100,MIR144,MIR451A,MIR451B,MIR4732,NARR,NEK8,PHF12,PIGS,PROCA1,RAB34,RPL23A,SDF2,SEZ6,SGK494,SLC13A2,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SPAG5,SPAG5-AS1,SUPT6H,TLCD1,TRAF4,UNC119 chr17 26816687 26816974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC13A2 chr17 26816687 26816980 Gain and loss Pancreatic cancer SNP array 17952125 SLC13A2 chr17 26816687 26816980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC13A2 chr17 26869570 26869865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 26869570 26869867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 26911128 26911215 Gain and loss Pancreatic cancer SNP array 17952125 SPAG5 chr17 26911128 26911215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG5 chr17 26914900 26915026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG5 chr17 26914902 26915023 Gain and loss Pancreatic cancer SNP array 17952125 SPAG5 chr17 26914902 26915023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG5 chr17 26925811 26925896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG5 chr17 26926543 26926653 Gain and loss Pancreatic cancer SNP array 17952125 SPAG5-AS1 chr17 26926543 26926653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG5-AS1 chr17 26933785 26933885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG5-AS1 chr17 26949618 27884440 Amplification Breast cancer FISH 17142309 CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,KIAA0100,MIR144,MIR451A,MIR451B,MIR4523,MIR4732,MYO18A,NARR,NEK8,NUFIP2,PHF12,PIPOX,PROCA1,RAB34,RPL23A,SDF2,SEZ6,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SUPT6H,TAOK1,TIAF1,TLCD1,TRAF4 chr17 26956573 26956884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA0100 chr17 2699731 2941034 Amplification Prostate cancer aCGH 22341455 RAP1GAP2 chr17 2699731 2941034 Deletion Prostate cancer aCGH 22341455 RAP1GAP2 chr17 27009508 27897870 LOH Normal High-resolution SNP genotyping 21211785 ABHD15,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,MIR144,MIR451A,MIR451B,MIR4523,MIR4732,MYO18A,NARR,NEK8,NUFIP2,PHF12,PIPOX,PROCA1,RAB34,RPL23A,SEZ6,SNORD42A,SNORD42B,SNORD4A,SNORD4B,SUPT6H,TAOK1,TIAF1,TLCD1,TP53I13,TRAF4 chr17 27028564 27028658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUPT6H chr17 27058430 27592750 LOH Normal High-resolution SNP genotyping 21211785 CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,MIR144,MIR451A,MIR451B,MIR4732,MYO18A,NEK8,NUFIP2,PHF12,PIPOX,SEZ6,TIAF1,TRAF4 chr17 27064875 27064985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK8 chr17 27064885 27064985 Gain and loss Pancreatic cancer SNP array 17952125 NEK8 chr17 27064895 27064985 Gain and loss Pancreatic cancer SNP array 17952125 NEK8 chr17 27065850 27065928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK8 chr17 27071803 28064142 LOH Normal High-resolution SNP genotyping 21211785 ABHD15,ANKRD13B,CORO6,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,GIT1,MIR144,MIR451A,MIR451B,MIR4523,MIR4732,MYO18A,NUFIP2,PHF12,PIPOX,SEZ6,SSH2,TAOK1,TIAF1,TP53I13,TRAF4 chr17 27085709 27085784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM222B chr17 27127169 28064142 LOH Normal High-resolution SNP genotyping 21211785 ABHD15,ANKRD13B,CORO6,CRYBA1,DHRS13,ERAL1,FAM222B,FLOT2,GIT1,MIR144,MIR451A,MIR451B,MIR4523,MIR4732,MYO18A,NUFIP2,PHF12,PIPOX,SEZ6,SSH2,TAOK1,TIAF1,TP53I13 chr17 27128901 27133000 Deletion Glioma mate-paired sequence 20126413 FAM222B chr17 27130738 27131656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM222B chr17 27155572 30543919 Deletion Acute myeloid leukemia - 21251322 ABHD15,ADAP2,ANKRD13B,ARGFXP2,ATAD5,BLMH,C17orf79,CORO6,CPD,CRLF3,CRYBA1,DHRS13,DPRXP4,EFCAB5,ERAL1,EVI2A,EVI2B,FAM222B,FLOT2,GIT1,GOSR1,LRRC37B,LRRC37BP1,MIR144,MIR193A,MIR3184,MIR365B,MIR423,MIR451A,MIR451B,MIR4523,MIR4724,MIR4725,MIR4732,MIR4733,MYO18A,NF1,NSRP1,NUFIP2,OMG,PHF12,PIPOX,RAB11FIP4,RHOT1,RNF135,SEZ6,SH3GL1P1,SH3GL1P2,SLC6A4,SSH2,SUZ12,SUZ12P1,TAOK1,TBC1D29,TEFM,TIAF1,TMIGD1,TP53I13,UTP6 chr17 27203003 27210369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLOT2 chr17 27203003 27210369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLOT2 chr17 27203006 27210423 Gain and loss Pancreatic cancer SNP array 17952125 FLOT2 chr17 27214303 27252842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHRS13,FLOT2,PHF12 chr17 27214303 27252842 Gain and loss Pancreatic cancer SNP array 17952125 DHRS13,FLOT2,PHF12 chr17 27214303 27252842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS13,FLOT2,PHF12 chr17 27243613 27283563 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PHF12,SEZ6 chr17 27243613 27285861 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PHF12,SEZ6 chr17 27245834 27562095 Deletion Neurofibromatosis type 1 ABI Prism 3100 Genetic Analyzer 18212816 MYO18A,PHF12,PIPOX,SEZ6,TIAF1 chr17 27245834 27562095 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MYO18A,PHF12,PIPOX,SEZ6,TIAF1 chr17 27279623 27279723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 27280859 27323501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEZ6 chr17 27288184 27352162 Gain or loss Breast cancer - 20668451 SEZ6 chr17 27288184 27352162 Gain or loss Cancer - 20668451 SEZ6 chr17 27288184 27352162 Gain or loss Lung cancer - 20668451 SEZ6 chr17 27288184 27352162 Gain or loss Ovarian cancer - 20668451 SEZ6 chr17 27288184 27352162 Gain or loss Pancreas cancer - 20668451 SEZ6 chr17 27288184 27352162 Gain or loss Prostate cancer - 20668451 SEZ6 chr17 27288185 27352162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEZ6 chr17 27288185 27352162 Gain and loss Pancreatic cancer SNP array 17952125 SEZ6 chr17 27288185 27352162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEZ6 chr17 27312697 27312797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEZ6 chr1 72732859 73238324 LOH Normal High-resolution SNP genotyping 21211785 NEGR1 chr17 27372156 27404630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO18A,PIPOX,TIAF1 chr17 27372156 27404630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO18A,PIPOX,TIAF1 chr17 27372279 27404630 Gain and loss Pancreatic cancer SNP array 17952125 MYO18A,PIPOX,TIAF1 chr1 72737847 72769905 Loss Normal Birdsuite, version 1.5.2 22087296 NEGR1 chr17 27389103 27440083 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 MYO18A,TIAF1 chr17 27391567 27392657 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 27399794 27400226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 27460851 27461168 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO18A chr17 27462690 27463722 Gain and loss Pancreatic cancer SNP array 17952125 MYO18A chr17 27462690 27463722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO18A chr17 27492358 27494250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO18A chr17 27493586 27576859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRYBA1,MYO18A chr17 27493586 27576859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYBA1,MYO18A chr17 27493586 27576899 Gain and loss Pancreatic cancer SNP array 17952125 CRYBA1,MYO18A chr17 27510001 27512000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 27520431 27582453 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CRYBA1 chr17 27529501 27531000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 27535387 73524449 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AA06,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABHD15,ABI3,ACACA,ACBD4,ACE,ACLY,ACSF2,ADAM11,ADAP2,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD13B,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BLMH,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C1QL1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CASC3,CASKIN2,CBX1,CCDC103,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,CORO6,COX11,CPD,CPSF4L,CRHR1,CRLF3,CRYBA1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHX40,DHX58,DHX8,DLX3,DLX4,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFCAB5,EFTUD2,EIF1,EME1,EPN3,EPX,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EZH1,FADS6,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45513,FMNL1,FNDC8,FTSJ3,FZD2,G6PC,G6PC3,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GIT1,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LIMD2,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131347,LOC100287042,LOC100505782,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL2A,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3184,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR423,MIR4315-1,MIR4315-2,MIR4523,MIR4524A,MIR4524B,MIR454,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4733,MIR4734,MIR4736,MIR4737,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,MYO19,MYO1D,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NR1D1,NSF,NSFP1,NSRP1,NT5C,NT5C3L,NUFIP2,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PHB,PHOSPHO1,PIGW,PIP4K2B,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRKAR1A,PRKCA,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,RAB11FIP4,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RGS9,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF43,RNFT1,RPL19,RPL23,RPL27,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEPT4,SGCA,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC35B1,SLC35G3,SLC39A11,SLC4A1,SLC6A4,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD7,SNX11,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,SSH2,SSTR2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUZ12,SUZ12P1,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TAOK1,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEX14,TEX2,TEX34,THRA,TLK2,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM92,TMEM98,TMEM99,TMIGD1,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TP53I13,TRIM25,TRIM37,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2Z,UBTF,UNC45B,USH1G,USP32,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 27557325 27557576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 27617308 27672551 Gain and loss Pancreatic cancer SNP array 17952125 NUFIP2 chr17 27617308 27675793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUFIP2 chr17 27617308 27675793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUFIP2 chr17 27627835 27628062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 27682505 27693302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 27682505 27693302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 27682505 27693302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 27700000 28300000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ABHD15,ANKRD13B,CORO6,EFCAB5,GIT1,MIR4523,SSH2,TAOK1,TP53I13 chr17 27701241 27701334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 27701263 27738893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4523,TAOK1 chr17 27701263 27738893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4523,TAOK1 chr17 27701264 27721580 Gain and loss Pancreatic cancer SNP array 17952125 MIR4523,TAOK1 chr17 27795615 27832154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAOK1 chr17 27795615 27832154 Gain and loss Pancreatic cancer SNP array 17952125 TAOK1 chr17 27795615 27832154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAOK1 chr17 27800000 29300000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ABHD15,ADAP2,ANKRD13B,ATAD5,BLMH,CORO6,CPD,CRLF3,EFCAB5,GIT1,GOSR1,LRRC37BP1,MIR3184,MIR423,NSRP1,RNF135,SH3GL1P2,SLC6A4,SSH2,SUZ12P1,TAOK1,TBC1D29,TEFM,TMIGD1,TP53I13 chr17 27814505 27814613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAOK1 chr17 27814507 27814612 Gain and loss Pancreatic cancer SNP array 17952125 TAOK1 chr17 27814507 27814613 Gain and loss Pancreatic cancer SNP array 17952125 TAOK1 chr1 72783341 72865920 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 27838214 27842383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAOK1 chr17 27838214 27842383 Gain and loss Pancreatic cancer SNP array 17952125 TAOK1 chr17 27838214 27842383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAOK1 chr17 27843741 28228015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD15,ANKRD13B,CORO6,GIT1,SSH2,TAOK1,TP53I13 chr17 27843741 28228015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD15,ANKRD13B,CORO6,GIT1,SSH2,TAOK1,TP53I13 chr17 27843741 28228308 Gain and loss Pancreatic cancer SNP array 17952125 ABHD15,ANKRD13B,CORO6,GIT1,SSH2,TAOK1,TP53I13 chr17 27845001 27847500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TAOK1 chr1 72784509 72860746 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 27853402 27853482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAOK1 chr17 27901664 27901729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GIT1 chr17 27905053 27905108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GIT1 chr17 27909627 28457993 LOH Normal High-resolution SNP genotyping 21211785 ANKRD13B,CORO6,EFCAB5,GIT1,MIR3184,MIR423,NSRP1,SSH2 chr17 27943226 27943350 Gain and loss Pancreatic cancer SNP array 17952125 CORO6 chr17 27943226 27943350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CORO6 chr17 28067096 28067187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SSH2 chr17 28103575 28103640 Deletion Neurofibromatosis High-resolution array CGH 20686819 SSH2 chr17 28125691 28125791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSH2 chr17 28146576 30229278 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADAP2,ATAD5,BLMH,C17orf79,CPD,CRLF3,DPRXP4,EFCAB5,EVI2A,EVI2B,GOSR1,LRRC37BP1,MIR193A,MIR3184,MIR365B,MIR423,MIR4724,MIR4725,MIR4733,NF1,NSRP1,OMG,RAB11FIP4,RNF135,SH3GL1P2,SLC6A4,SSH2,SUZ12P1,TBC1D29,TEFM,TMIGD1,UTP6 chr17 28165238 28165317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSH2 chr17 28181350 28181460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSH2 chr17 28181352 28181460 Gain and loss Pancreatic cancer SNP array 17952125 SSH2 chr17 28181354 28181460 Gain and loss Pancreatic cancer SNP array 17952125 SSH2 chr17 2820000 3480000 Loss Breast cancer aCGH 21509527 ASPA,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,RAP1GAP2,SPATA22,TRPV1,TRPV3 chr17 28201959 28202059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSH2 chr1 72821051 72821151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 28256935 28256985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB5,SSH2 chr17 28262164 29858053 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADAP2,ATAD5,BLMH,CPD,CRLF3,DPRXP4,EFCAB5,EVI2A,EVI2B,GOSR1,LRRC37BP1,MIR3184,MIR423,MIR4733,NF1,NSRP1,OMG,RAB11FIP4,RNF135,SH3GL1P2,SLC6A4,SUZ12P1,TBC1D29,TEFM,TMIGD1 chr17 28279040 28292780 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 EFCAB5 chr17 28279041 28292778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB5 chr17 28279041 28292778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB5 chr17 28279294 28292777 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB5 chr17 28297991 30268152 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAP2,ATAD5,BLMH,C17orf79,CPD,CRLF3,DPRXP4,EFCAB5,EVI2A,EVI2B,GOSR1,LRRC37BP1,MIR193A,MIR3184,MIR365B,MIR423,MIR4724,MIR4725,MIR4733,NF1,NSRP1,OMG,RAB11FIP4,RNF135,SH3GL1P2,SLC6A4,SUZ12,SUZ12P1,TBC1D29,TEFM,TMIGD1,UTP6 chr17 28297991 31503652 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAP2,ARGFXP2,ASIC2,ATAD5,BLMH,C17orf75,C17orf79,CDK5R1,CPD,CRLF3,DPRXP4,EFCAB5,EVI2A,EVI2B,GOSR1,LRRC37B,LRRC37BP1,MIR193A,MIR3184,MIR365B,MIR423,MIR4724,MIR4725,MIR4733,MIR632,MYO1D,NF1,NSRP1,OMG,PSMD11,RAB11FIP4,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC6A4,SPACA3,SUZ12,SUZ12P1,TBC1D29,TEFM,TMEM98,TMIGD1,UTP6,ZNF207 chr17 28309463 28687067 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 BLMH,EFCAB5,MIR3184,MIR423,NSRP1,SLC6A4,TMIGD1 chr17 28313925 28314303 Deletion Neurofibromatosis Real-Time PCR 18196300 EFCAB5 chr17 28342994 28349005 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 EFCAB5 chr17 28342995 28349005 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB5 chr17 28342995 28349008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB5 chr17 28342995 28349008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB5 chr17 28364221 29507664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAP2,ATAD5,BLMH,CPD,CRLF3,DPRXP4,EFCAB5,GOSR1,LRRC37BP1,MIR3184,MIR423,MIR4733,NF1,NSRP1,RNF135,SH3GL1P2,SLC6A4,SUZ12P1,TBC1D29,TEFM,TMIGD1 chr17 28364221 29507664 Gain and loss Pancreatic cancer SNP array 17952125 ADAP2,ATAD5,BLMH,CPD,CRLF3,DPRXP4,EFCAB5,GOSR1,LRRC37BP1,MIR3184,MIR423,MIR4733,NF1,NSRP1,RNF135,SH3GL1P2,SLC6A4,SUZ12P1,TBC1D29,TEFM,TMIGD1 chr17 28364221 29507664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAP2,ATAD5,BLMH,CPD,CRLF3,DPRXP4,EFCAB5,GOSR1,LRRC37BP1,MIR3184,MIR423,MIR4733,NF1,NSRP1,RNF135,SH3GL1P2,SLC6A4,SUZ12P1,TBC1D29,TEFM,TMIGD1 chr17 28366349 28411165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EFCAB5 chr17 28420000 29400000 Gain Breast cancer aCGH 21509527 ADAP2,ATAD5,BLMH,CPD,CRLF3,DPRXP4,EFCAB5,GOSR1,LRRC37BP1,MIR3184,MIR423,NSRP1,RNF135,SH3GL1P2,SLC6A4,SUZ12P1,TBC1D29,TEFM,TMIGD1 chr17 28421130 28421199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB5 chr17 28439017 28439117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 28500000 29700000 Amplification Cervical cancer Array CGH 21063398 ADAP2,ATAD5,BLMH,CPD,CRLF3,DPRXP4,EVI2A,EVI2B,GOSR1,LRRC37BP1,MIR4733,NF1,NSRP1,OMG,RNF135,SH3GL1P2,SLC6A4,SUZ12P1,TBC1D29,TEFM,TMIGD1 chr17 28524944 28524944 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 SLC6A4 chr17 28524944 28524944 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 SLC6A4 chr17 28619556 28619647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 28620747 28620882 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 28649259 28681300 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMIGD1 chr17 2865605 2865693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAP1GAP2 chr17 2867989 3722909 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ASPA,C17orf85,CTNS,EMC6,GSG2,ITGAE,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,P2RX5,P2RX5-TAX1BP3,RAP1GAP2,SHPK,SPATA22,TAX1BP3,TRPV1,TRPV3 chr17 2871196 2871258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAP1GAP2 chr17 2875501 2888500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAP1GAP2 chr17 28794278 29841486 Loss Prostate cancer Array CGH 18632612 ADAP2,ATAD5,CPD,CRLF3,DPRXP4,EVI2A,EVI2B,GOSR1,LRRC37BP1,MIR4733,NF1,OMG,RAB11FIP4,RNF135,SH3GL1P2,SUZ12P1,TBC1D29,TEFM chr17 28797037 29337463 Deletion Glioblastoma multiforme Array CGH 19115005 ADAP2,ATAD5,CRLF3,DPRXP4,GOSR1,LRRC37BP1,RNF135,SH3GL1P2,SUZ12P1,TBC1D29,TEFM chr17 28800000 35400000 Amplification Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Amplification Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Amplification Ductal carcinoma Array CGH 18381933 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Amplification Normal - 22101487 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Copy number Breast cancer SMRT array 16417655 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Copy number Normal real-time PCR 18848619 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Copy number Renal cysts - 20603712 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Deletion Autism quantitative multiplex PCR 20587423 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Deletion T-cell acute lymphoblastic leukemia FISH 20065082 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Loss Cancer array-based techniques 21183584 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Loss Glioblastoma multiforme aCGH 21080181 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Loss Ovarian cancer Affymetrix 20844748 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35400000 Microdeletion Mayer-Rokitansky-Kuster-Hauser syndrome array-CGH 19889212 AA06,AATF,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 35600000 Amplification Urothelial cell carcinoma FISH 18451213 AA06,AATF,ACACA,ADAP2,AP2B1,ARGFXP2,ASIC2,ATAD5,C17orf102,C17orf50,C17orf66,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK5R1,CRLF3,DHRS11,DPRXP4,EVI2A,EVI2B,FNDC8,GAS2L2,GGNBP2,GOSR1,LHX1,LIG3,LRRC37B,LRRC37BP1,LYZL6,MIR193A,MIR2909,MIR365B,MIR4724,MIR4725,MIR4733,MIR632,MMP28,MRM1,MYO19,MYO1D,NF1,NLE1,OMG,PEX12,PIGW,PSMD11,RAB11FIP4,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RNF135,SH3GL1P1,SH3GL1P2,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SPACA3,SUZ12,SUZ12P1,TAF15,TBC1D29,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,TEFM,TMEM132E,TMEM98,UNC45B,UTP6,ZNF207,ZNF830,ZNHIT3 chr17 28800000 47600000 Gain Metanephric adenoma Oligo aCGH 20802469 AA06,AARSD1,AATF,ABI3,ACACA,ACBD4,ACLY,ADAM11,ADAP2,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATAD5,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf102,C17orf104,C17orf105,C17orf50,C17orf53,C17orf65,C17orf66,C17orf69,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5R1,CDK5RAP3,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CRLF3,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHX58,DHX8,DNAJC7,DPRXP4,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EVI2A,EVI2B,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FMNL1,FNDC8,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR1,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LSM12,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR193A,MIR196A1,MIR2117,MIR2909,MIR3185,MIR365B,MIR4315-1,MIR4315-2,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4733,MIR4734,MIR5010,MIR5089,MIR632,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL10,MRPL45,MRPL45P2,MSL1,MYL4,MYO19,MYO1D,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,OMG,ORMDL3,OSBPL7,PCGF2,PEX12,PGAP3,PHB,PHOSPHO1,PIGW,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB11FIP4,RAB5C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RNF135,RPL19,RPL23,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SH3GL1P1,SH3GL1P2,SKAP1,SLC25A39,SLC35G3,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNF8,SNORA21,SNORD124,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPACA3,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SUZ12,SUZ12P1,SYNRG,TADA2A,TAF15,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBKBP1,TBX21,TCAP,TEFM,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM98,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UNC45B,UTP6,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 28800000 54900000 Gain Breast cancer Array CGH 16608533 AA06,AARSD1,AATF,ABCC3,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,ADAP2,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATAD5,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf102,C17orf104,C17orf105,C17orf112,C17orf50,C17orf53,C17orf65,C17orf66,C17orf67,C17orf69,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5R1,CDK5RAP3,CHAD,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,COX11,CRHR1,CRLF3,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHX58,DHX8,DLX3,DLX4,DNAJC7,DPRXP4,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ERBB2,ETV4,EVI2A,EVI2B,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FNDC8,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR1,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR193A,MIR196A1,MIR2117,MIR2909,MIR3185,MIR365B,MIR4315-1,MIR4315-2,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4733,MIR4734,MIR5010,MIR5089,MIR632,MLLT6,MLX,MMD,MMP28,MPP2,MPP3,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MSL1,MYCBPAP,MYL4,MYO19,MYO1D,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OMG,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PEX12,PGAP3,PHB,PHOSPHO1,PIGW,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPP1R9B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB11FIP4,RAB5C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RNF135,RPL19,RPL23,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SH3GL1P1,SH3GL1P2,SKAP1,SLC25A39,SLC35B1,SLC35G3,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNF8,SNORA21,SNORD124,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPACA3,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STXBP4,SUZ12,SUZ12P1,SYNRG,TAC4,TADA2A,TAF15,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBKBP1,TBX21,TCAP,TEFM,TEX34,THRA,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM92,TMEM98,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UNC45B,UTP18,UTP6,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 28800000 78774742 Gain Metanephric adenoma Oligo aCGH 20802469 AA06,AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,ADAP2,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARGFXP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ATAD5,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf75,C17orf77,C17orf78,C17orf79,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5R1,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CRLF3,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DPRXP4,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERBB2,ERN1,ETV4,EVI2A,EVI2B,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FMNL1,FNDC8,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR1,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LGALS3BP,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC37B,LRRC37BP1,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR193A,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR365B,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4724,MIR4725,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4733,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR632,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO19,MYO1D,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NEUROD2,NF1,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OMG,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHOSPHO1,PIGW,PIP4K2B,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD11,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,QRICH2,RAB11FIP4,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RHBDL3,RHOT1,RND2,RNF126P1,RNF135,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SH3GL1P1,SH3GL1P2,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC4A1,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPACA3,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SUZ12,SUZ12P1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TBC1D16,TBC1D29,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEFM,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM235,TMEM92,TMEM98,TMEM99,TMUB2,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTP6,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF207,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 28821969 28822140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GOSR1 chr17 2886981 2887437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAP1GAP2 chr17 2886981 2887437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAP1GAP2 chr1 72893633 73019191 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 72895367 72895472 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 2898000 2925000 Duplication Non-syndromic sensorineural hearing loss References 19212409 RAP1GAP2 chr17 28980655 29960126 Duplication Autism Illumina HumanHap562 BeadChip 20858243 ADAP2,ATAD5,CRLF3,DPRXP4,EVI2A,EVI2B,MIR193A,MIR365B,MIR4724,MIR4725,MIR4733,NF1,OMG,RAB11FIP4,RNF135,SUZ12P1,TEFM chr17 28983508 29962135 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ADAP2,ATAD5,CRLF3,DPRXP4,EVI2A,EVI2B,MIR193A,MIR365B,MIR4724,MIR4725,MIR4733,NF1,OMG,RAB11FIP4,RNF135,SUZ12P1,TEFM chr17 289998 295959 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 FAM101B chr17 289998 295959 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 FAM101B chr1 72900000 78400000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACADM,AK5,ASB17,C1orf173,CRYZ,FAM73A,FPGT,FPGT-TNNI3K,LHX8,LRRIQ3,MSH4,NEXN,PIGK,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,ST6GALNAC3,ST6GALNAC5,TNNI3K,TYW3,USP33,ZZZ3 chr17 290008 295959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM101B chr17 290008 295959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM101B chr17 290454 290519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM101B chr17 29087983 29088761 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SUZ12P1 chr17 2912016 3092354 Gain and loss Barrett's syndrome BAC array 19417022 OR1D2,OR1D5,OR1G1,RAP1GAP2 chr17 2912016 3092354 Gain and loss Esophageal adenocarcinoma BAC array 19417022 OR1D2,OR1D5,OR1G1,RAP1GAP2 chr1 72912131 72912969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 2912712 2913651 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 RAP1GAP2 chr17 2912712 2913705 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 RAP1GAP2 chr17 2912713 2913651 Gain and loss Pancreatic cancer SNP array 17952125 RAP1GAP2 chr17 2912713 2913705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAP1GAP2 chr17 2912713 2913705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAP1GAP2 chr17 29145531 29385300 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1101K arrays 21546498 ADAP2,ATAD5,CRLF3,DPRXP4,RNF135,TEFM chr17 29169 20234630 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 2921948 2922048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAP1GAP2 chr17 29225450 29225590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29255449 29287827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADAP2 chr17 29327743 29327843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 29356051 29446047 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 MIR4733,NF1 chr1 72936821 72936921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 29388753 29391004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 29404279 29546036 Deletion Glioblastoma multiforme Array CGH 19115005 MIR4733,NF1 chr17 2942101 2943040 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr17 2942102 2943040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2942102 2943040 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 2942102 2943040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29421994 29708905 Copy number Glioblastoma multiforme GISTIC algorithm 22241976 EVI2A,EVI2B,NF1,OMG chr17 29421994 29708905 Loss Idiopathic neurodevelopmental disorder SNP microarrays 17353900 EVI2A,EVI2B,NF1,OMG chr17 29426218 29488638 Deletion Neurofibromatosis High-resolution array CGH 20686819 NF1 chr17 2945802 2958395 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 72946459 73125916 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr17 29471213 29471300 Gain and loss Pancreatic cancer SNP array 17952125 NF1 chr17 29471213 29471300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF1 chr1 72948989 72949089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 295000 621000 Loss Idiopathic neurodevelopmental disorder MLPA,aCGH 21092253 FAM101B,VPS53 chr17 29534337 29534437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NF1 chr17 29542339 29542400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NF1 chr1 72955934 72956040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29567679 29847027 Amplification or deletion Cancer Array CGH 17440070 EVI2A,EVI2B,NF1,OMG,RAB11FIP4 chr1 72959347 72959420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 29606409 29608329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NF1 chr17 29606409 29608329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF1 chr17 29606411 29608331 Gain and loss Pancreatic cancer SNP array 17952125 NF1 chr17 29621353 29623368 Gain and loss Pancreatic cancer SNP array 17952125 NF1,OMG chr17 29621354 29623373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NF1,OMG chr17 29621354 29623373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF1,OMG chr17 29625225 29625375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NF1 chr17 29636800 29639312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EVI2B,NF1 chr17 29636800 29639312 Gain and loss Pancreatic cancer SNP array 17952125 EVI2B,NF1 chr17 29636800 29639312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI2B,NF1 chr17 2966462 2967363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR1D5 chr17 2966471 2967363 Gain and loss Pancreatic cancer SNP array 17952125 OR1D5 chr17 29670168 29672533 Gain and loss Pancreatic cancer SNP array 17952125 NF1 chr17 29670168 29672534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NF1 chr17 29670168 29672534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF1 chr17 29682555 29694651 Substitutions and indels small cell lung cancer array-CGH 20016488 NF1 chr17 29683989 29684089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NF1 chr17 29685050 29685120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NF1 chr17 29699811 33361359 Substitutions and indels small cell lung cancer array-CGH 20016488 AA06,ARGFXP2,ASIC2,C17orf102,C17orf75,C17orf79,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,CDK5R1,LIG3,LRRC37B,MIR193A,MIR365B,MIR4724,MIR4725,MIR632,MYO1D,NF1,PSMD11,RAB11FIP4,RAD51L3-RFFL,RFFL,RHBDL3,RHOT1,SH3GL1P1,SPACA3,SUZ12,TMEM132E,TMEM98,UTP6,ZNF207,ZNF830 chr17 29707584 29709741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29707584 29709741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 29707584 29709741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29711512 29714365 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 29711512 29714365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29730249 29730335 Gain and loss Pancreatic cancer SNP array 17952125 RAB11FIP4 chr17 29730249 29730335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP4 chr17 29757956 29758048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB11FIP4 chr17 29760047 29793170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB11FIP4 chr17 29764522 29764637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB11FIP4 chr17 2976653 2977595 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr17 2976654 2977595 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 2976654 2977709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 2976654 2977709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29787065 29787110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB11FIP4 chr17 2981856 3082150 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 OR1D2,OR1G1 chr17 29842259 29842482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB11FIP4 chr17 29842474 29842544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB11FIP4 chr17 29842511 29842671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB11FIP4 chr17 29863677 29896552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR193A,RAB11FIP4 chr17 29864353 43119234 Loss Wilms tumour 250K Genotyping Arrays 21544195 AA06,AARSD1,AATF,ACACA,ACLY,ADAM11,AOC2,AOC3,AOC4,AP2B1,ARGFXP2,ARHGAP23,ARL4D,ARL5C,ASB16,ASIC2,ATP6V0A1,ATXN7L3,BECN1,BRCA1,C17orf102,C17orf104,C17orf105,C17orf50,C17orf53,C17orf65,C17orf66,C17orf75,C17orf78,C17orf79,C17orf96,C17orf98,C1QL1,CACNB1,CASC3,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC6,CDK12,CDK5R1,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FNDC8,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GJC1,GJD3,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HIGD1B,HNF1B,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,ITGA2B,JUP,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LRRC37A11P,LRRC37B,LRRC3C,LSM12,LYZL6,MED1,MED24,MEOX1,MIEN1,MIR193A,MIR2117,MIR2909,MIR365B,MIR4725,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR632,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL45,MSL1,MYO19,MYO1D,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NKIRAS2,NLE1,NR1D1,NT5C3L,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLEKHH3,PLXDC1,PNMT,PPP1R1B,PPY,PSMB3,PSMC3IP,PSMD11,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB11FIP4,RAB5C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RHBDL3,RHOT1,RND2,RPL19,RPL23,RPL27,RUNDC1,RUNDC3A,SH3GL1P1,SLC25A39,SLC35G3,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNORA21,SNORD124,SNORD7,SOCS7,SOST,SPACA3,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,SUZ12,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM98,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TUBG1,TUBG2,UBTF,UNC45B,UTP6,VAT1,VPS25,WIPF2,WNK4,ZNF207,ZNF385C,ZNF830,ZNHIT3,ZPBP2 chr17 29895301 29900500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 29897095 29898728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 72989922 72989997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 29920449 29935983 Gain Normal 244K array 17666407 NOT_FOUND chr17 29922597 29936205 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 29925255 29930501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29925255 29930501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 29925255 29930501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29929001 30005000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 29931881 29990450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29931881 29990450 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 29931881 29990450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 29937710 29937746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 2995336 2995336 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr17 2995336 2995336 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr17 2995351 2996289 Amplification Prostate cancer aCGH 22341455 OR1D2 chr17 2995351 2996289 Deletion Prostate cancer aCGH 22341455 OR1D2 chr1 73000034 73000134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 30005001 30664500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARGFXP2,C17orf75,C17orf79,LRRC37B,RHBDL3,RHOT1,SH3GL1P1,SUZ12,UTP6 chr17 30021565 30021665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 3003934 3004926 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3003934 3004926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30049714 30049774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 30094460 30137450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 30114328 31319764 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ARGFXP2,C17orf75,C17orf79,CDK5R1,LRRC37B,MIR632,MYO1D,PSMD11,RHBDL3,RHOT1,SH3GL1P1,SPACA3,SUZ12,TMEM98,UTP6,ZNF207 chr17 30152074 30170521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 30170097 30170197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 30172182 30172269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 30185940 30216350 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf79,UTP6 chr17 30189486 30189624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 3019165 3019265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 30279053 30312619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SUZ12 chr17 30279053 30312619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUZ12 chr17 30279064 30312615 Gain and loss Pancreatic cancer SNP array 17952125 SUZ12 chr17 30312678 30314177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SUZ12 chr17 30312678 30314177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUZ12 chr17 30312689 30314316 Gain and loss Pancreatic cancer SNP array 17952125 SUZ12 chr17 30326097 30428650 Deletion Peripheral nerve sheath tumors High-resolution array CGH 20686819 LRRC37B,SH3GL1P1,SUZ12 chr17 30331650 30356201 Gain or loss Breast cancer - 20668451 LRRC37B chr17 30331650 30356201 Gain or loss Cancer - 20668451 LRRC37B chr17 30331650 30356201 Gain or loss Lung cancer - 20668451 LRRC37B chr17 30331650 30356201 Gain or loss Ovarian cancer - 20668451 LRRC37B chr17 30331650 30356201 Gain or loss Pancreas cancer - 20668451 LRRC37B chr17 30331650 30356201 Gain or loss Prostate cancer - 20668451 LRRC37B chr17 30331651 30356201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC37B chr17 30331651 30356201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC37B chr17 30331655 30355936 Gain and loss Pancreatic cancer SNP array 17952125 LRRC37B chr17 30353734 30398962 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC37B,SH3GL1P1 chr17 30360244 30440407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC37B,SH3GL1P1 chr17 30360244 30440407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC37B,SH3GL1P1 chr17 30360244 30440427 Gain and loss Pancreatic cancer SNP array 17952125 LRRC37B,SH3GL1P1 chr17 30405521 30405626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 30405521 30405626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30409621 30473599 Amplification or deletion Cancer Array CGH 17440070 RHOT1 chr17 30427859 30428139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 30427872 30428139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3043058 3309819 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 OR1A1,OR1A2,OR1D4,OR1E1,OR3A1,OR3A2,OR3A4P chr17 3043058 3565280 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASPA,CTNS,OR1A1,OR1A2,OR1D4,OR1E1,OR1E2,OR3A1,OR3A2,OR3A3,OR3A4P,SHPK,SPATA22,TRPV1,TRPV3 chr17 30445041 30445105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 30445041 30445105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30450929 30470948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOT1 chr17 30450929 30470948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOT1 chr17 30450929 30471001 Gain and loss Pancreatic cancer SNP array 17952125 RHOT1 chr17 30471195 30493420 Gain and loss Pancreatic cancer SNP array 17952125 ARGFXP2,RHOT1 chr17 30472744 30481863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARGFXP2,RHOT1 chr17 30472744 30481863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARGFXP2,RHOT1 chr17 30472763 30481863 Gain and loss Pancreatic cancer SNP array 17952125 ARGFXP2,RHOT1 chr17 30472906 30493435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARGFXP2,RHOT1 chr17 3047561 3048492 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3047562 3048492 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr17 3047563 3048492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3047563 3048492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30475909 30494272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARGFXP2,RHOT1 chr17 30498949 30540477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOT1 chr17 30498949 30540477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOT1 chr17 30499396 30537691 Gain and loss Pancreatic cancer SNP array 17952125 RHOT1 chr17 30530000 30870000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 C17orf75,CDK5R1,MIR632,MYO1D,PSMD11,RHBDL3,RHOT1,ZNF207 chr17 30538437 30564848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RHOT1 chr17 30539277 31503652 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASIC2,C17orf75,CDK5R1,MIR632,MYO1D,PSMD11,RHBDL3,RHOT1,SPACA3,TMEM98,ZNF207 chr17 30543652 30545560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOT1 chr17 30543652 30545560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOT1 chr17 30544423 30545439 Gain and loss Pancreatic cancer SNP array 17952125 RHOT1 chr17 30550165 30550265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RHOT1 chr17 30594199 30618852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHBDL3 chr17 30594199 30618852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHBDL3 chr17 30594203 30618521 Gain and loss Pancreatic cancer SNP array 17952125 RHBDL3 chr17 30596008 30612536 Deletion Neurofibromatosis High-resolution array CGH 20686819 RHBDL3 chr17 30624580 30787596 Deletion Oligozoospermia Array-CGH 20877625 C17orf75,MIR632,PSMD11,RHBDL3,ZNF207 chr17 30634052 32989426 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AA06,ASIC2,C17orf102,C17orf75,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CDK5R1,MIR632,MYO1D,PSMD11,RHBDL3,SPACA3,TMEM132E,TMEM98,ZNF207 chr17 3065664 3066594 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr17 3065665 3066594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3065665 3066594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3065665 3066594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30664501 30666000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf75 chr17 30701437 30724833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30701437 30724833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30701445 30724733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 30702832 30792457 Copy number loss Normal High-resolution SNP genotyping 21211785 PSMD11 chr17 30706624 30781249 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PSMD11 chr1 730720 747332 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 30762192 30784328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMD11 chr17 30762192 30784328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD11 chr17 30762470 30774160 Gain and loss Pancreatic cancer SNP array 17952125 PSMD11 chr17 30786228 30799885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMD11 chr17 30786228 30799885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD11 chr17 30790116 30799899 Gain and loss Pancreatic cancer SNP array 17952125 PSMD11 chr17 3079033 3079122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30810604 30811684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 30810631 30811681 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 30826027 30888828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 30841271 30841324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1D chr17 30873407 30909188 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr17 30893667 30893851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1D chr17 30893850 30894101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1D chr17 30920749 30949928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO1D chr17 30924789 30924885 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr17 30924789 30924885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 30925928 30929695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 30925928 30929695 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr17 30925928 30929695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 30938395 31077547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 30938395 31077547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 30938406 31077541 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr1 73095037 73095137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 30990824 30990924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1D chr17 31081633 31171045 Gain aortic dissecting aneurysms Array-CGH 22263138 MYO1D chr17 31081633 31171045 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 MYO1D chr17 31082792 31094652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31082792 31094652 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr17 31082792 31094652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31082870 31094653 Gain or loss Breast cancer - 20668451 MYO1D chr17 31082870 31094653 Gain or loss Cancer - 20668451 MYO1D chr17 31082870 31094653 Gain or loss Lung cancer - 20668451 MYO1D chr17 31082870 31094653 Gain or loss Ovarian cancer - 20668451 MYO1D chr17 31082870 31094653 Gain or loss Pancreas cancer - 20668451 MYO1D chr17 31082870 31094653 Gain or loss Prostate cancer - 20668451 MYO1D chr17 31091501 31126000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO1D chr17 31095650 31104010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31095650 31104010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31095948 31104010 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr17 31112029 31116211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31112029 31116211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31112046 31116210 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr17 31116989 31146753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31116989 31146753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31116989 31146755 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr17 31160313 31160413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1D chr17 31160596 31198350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31160596 31198350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1D chr17 31160600 31198351 Copy number Gastric cancer Human cDNA microarrays 17229543 MYO1D chr17 31160600 31198351 Gain or loss Breast cancer - 20668451 MYO1D chr17 31160600 31198351 Gain or loss Cancer - 20668451 MYO1D chr17 31160600 31198351 Gain or loss Lung cancer - 20668451 MYO1D chr17 31160600 31198351 Gain or loss Ovarian cancer - 20668451 MYO1D chr17 31160600 31198351 Gain or loss Pancreas cancer - 20668451 MYO1D chr17 31160600 31198351 Gain or loss Prostate cancer - 20668451 MYO1D chr17 31160600 31198351 Translate Acute lymphoblastic leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 MYO1D chr17 31160600 31198351 Translate Chondrosarcoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 MYO1D chr17 31160601 31198350 Gain and loss Pancreatic cancer SNP array 17952125 MYO1D chr17 31161549 31161638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1D chr17 31194820 31522468 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ASIC2,MYO1D,SPACA3,TMEM98 chr17 31206073 31220008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31206073 31220008 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 31206073 31220008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31222608 31231490 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 31222608 31231910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31222608 31231910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31222613 31231490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 31235272 31236172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 31239891 31240000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 31239891 31240000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31240599 31240921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 31240624 31240921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31240732 31240920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 31256143 31283843 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM98 chr17 31269197 31281893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31269197 31281893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31269199 31281416 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr17 31269202 31281886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3128014 3128979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3128014 3128979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31285638 31294787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31285638 31294787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31285662 31294787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 31309398 31466733 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 ASIC2,SPACA3 chr17 31309398 31593135 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASIC2,SPACA3 chr17 31309398 31593135 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASIC2,SPACA3 chr17 31309398 31651855 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASIC2,SPACA3 chr17 31309398 31981395 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 AA06,ASIC2,SPACA3 chr17 31309398 31981395 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AA06,ASIC2,SPACA3 chr17 31309398 31981395 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AA06,ASIC2,SPACA3 chr17 31310000 33210000 Loss Breast cancer aCGH 21509527 AA06,ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,SPACA3,TMEM132E chr17 31327651 31332645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31327651 31332645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 31327651 31332645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31334443 31353125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31334805 31353125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31334805 31353125 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31334805 31353125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31364210 31369118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31364210 31369118 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31364210 31369118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31378777 31382952 Loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31400392 31400722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASIC2 chr17 31401905 31651855 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASIC2 chr17 31401905 31651855 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASIC2 chr17 31401905 31981395 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AA06,ASIC2 chr17 31401905 31981395 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AA06,ASIC2 chr17 31415755 31422954 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ASIC2 chr17 31415756 31422953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31415756 31422953 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31415756 31422953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 3141679 3142626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3141679 3142644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3141679 3142644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31421234 31457127 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31427937 31700688 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ASIC2 chr17 31432489 31460923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASIC2 chr17 31439718 31441600 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31439718 31441619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31439718 31441619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31440158 31567477 Loss Autism 1M Ailent CGH whole-genome array 21865298 ASIC2 chr17 31441440 31441586 Gain Normal 244K array 17666407 ASIC2 chr17 31448720 31449893 Loss Normal 244K array 17666407 ASIC2 chr17 31452528 31509204 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ASIC2 chr17 31452528 31653809 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ASIC2 chr17 31455332 31457127 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ASIC2 chr17 31455333 31457778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31455333 31457778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31456683 31635490 Loss Normal 244K array 17666407 ASIC2 chr17 31459625 31460645 Loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31459625 31559752 Duplication Normal Affymetrix 6.0 microarrays 20967226 ASIC2 chr17 31459625 31559752 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ASIC2 chr17 31459625 31653797 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31460351 31460435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 31460645 31461240 Loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31460645 31653809 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ASIC2 chr17 31460733 31529397 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ASIC2 chr17 31460733 31529397 Copy number gain Normal High-resolution SNP genotyping 21211785 ASIC2 chr17 31460733 31558193 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ASIC2 chr17 31460733 31558193 Copy number gain Normal High-resolution SNP genotyping 21211785 ASIC2 chr17 31460821 31653809 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ASIC2 chr17 31461229 31653797 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31461240 31461241 Loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31461241 31464091 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31461388 31891735 Copy number Incontinentia Pigmenti Agilent SurePrint G24 one Million microarrays 22033527 AA06,ASIC2 chr17 31461573 31600118 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ASIC2 chr17 31461660 31461953 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31461665 31461953 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31462117 31503652 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ASIC2 chr17 31464079 31567444 Deletion Normal Affymetrix 6.0 microarrays 20967226 ASIC2 chr17 31464079 31567444 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ASIC2 chr17 31464079 31653797 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ASIC2 chr17 31464079 31653797 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ASIC2 chr17 31464091 31486016 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31464899 31653797 Deletion Normal Affymetrix 6.0 microarrays 20967226 ASIC2 chr17 31467913 31653797 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31471028 31653797 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31473221 31501499 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ASIC2 chr17 314735 515143 Loss Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 VPS53 chr17 3147484 3147802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 31475539 31653797 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31479689 31653797 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31484488 31653797 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31485183 31653797 Deletion Normal Affymetrix 6.0 microarrays 20967226 ASIC2 chr17 31485567 31653797 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ASIC2 chr17 31486016 31509204 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31487760 33574650 Microdeletion Epilepsy array CGH (Nimblegen 135 K v3.1) Illumina 610quad microarrays 21858020 AA06,ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,FNDC8,LIG3,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,TMEM132E,UNC45B,ZNF830 chr17 31489202 31567444 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31489202 31653797 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASIC2 chr17 31498593 31642646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASIC2 chr17 31503445 31641761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASIC2 chr17 31506184 33553588 Loss Autism 1M Ailent CGH whole-genome array 21865298 AA06,ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,FNDC8,LIG3,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,TMEM132E,UNC45B,ZNF830 chr17 31507252 31626412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASIC2 chr17 31509204 31567456 Loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31511251 31895500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AA06,ASIC2 chr17 31517245 31528097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31522468 31904724 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AA06,ASIC2 chr17 3154257 3410803 Deletion Cystic renal disease FISH 19844256 ASPA,OR1E1,OR1E2,OR3A1,OR3A2,OR3A3,OR3A4P,SPATA22 chr17 3154257 3410803 Deletion Diabetes mellitus FISH 19844256 ASPA,OR1E1,OR1E2,OR3A1,OR3A2,OR3A3,OR3A4P,SPATA22 chr17 31546381 31548269 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ASIC2 chr17 31546384 31548269 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31546385 31548270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31546385 31548270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31553603 31553684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 31562578 31564084 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31562578 31566057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31562580 31665959 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ASIC2 chr17 31567456 31610407 Loss Normal Birdsuite, version 1.5.2 22087296 ASIC2 chr17 31574056 31699961 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 ASIC2 chr17 31575633 31575733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 31583743 31651855 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASIC2 chr17 31583743 31651855 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASIC2 chr17 31583743 31981395 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AA06,ASIC2 chr17 31583743 31981395 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AA06,ASIC2 chr17 31592200 31658488 Gain Congenital diaphragmatic hernia BAC-array CGH 21341218 ASIC2 chr17 3160355 3161401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3160355 3161401 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3160355 3161401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 31605198 31616152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31605204 31616072 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31626906 31635481 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ASIC2 chr17 31634841 31649843 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31646134 31653133 Loss Normal TaqMan assays 20972442 ASIC2 chr17 31647958 31649844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31647958 31649844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31664144 31667624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31664144 31667624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31664147 31665951 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31779683 31779783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 31799968 31981395 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AA06,ASIC2 chr17 31800000 38100000 Amplification Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Amplification Breast cancer BAC-arrays 17001317 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Amplification Hepatocellular carcinoma FISH 16785998 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Amplification Primary lung adenocarcinoma Immunohistochemistry analysis 16799635 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Copy number HIV/AIDS duplex PCR 18848619 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Copy number HIV/AIDS TaqMan assays 17330138 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Copy number Rheumatoid arthritis duplex PCR 18848619 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Copy number Rheumatoid arthritis References 19220326 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Copy number Systemic lupus erythematosus duplex PCR 18848619 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Copy number Systemic lupus erythematosus References 19220326 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Copy number Type 1 diabetes References 19220326 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Deletion or duplication Autism Array CGH 19955444 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Deletion or duplication Schizophrenia Array CGH 19955444 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 38100000 Gain Myelodysplastic syndrome Array CGH 18663149 AA06,AATF,ACACA,AP2B1,ARHGAP23,ARL5C,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,FNDC8,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LIG3,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,NLE1,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,TMEM132E,UNC45B,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 50200000 Amplification Breast cancer ABI Prism 7700 Sequence Detection System PCR 17457667 AA06,AARSD1,AATF,ABCC3,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,AP2B1,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf102,C17orf104,C17orf105,C17orf50,C17orf53,C17orf65,C17orf66,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CHAD,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ERBB2,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FNDC8,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR2909,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MSL1,MYCBPAP,MYL4,MYO19,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,ORMDL3,OSBPL7,PCGF2,PDK2,PEX12,PGAP3,PHB,PHOSPHO1,PIGW,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPP1R9B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RND2,RPL19,RPL23,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC35G3,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNF8,SNORA21,SNORD124,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SYNRG,TAC4,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UNC45B,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 50200000 Amplification or deletion Breast cancer Retrieval references of full articles and abstracts 16951389 AA06,AARSD1,AATF,ABCC3,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,AP2B1,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf102,C17orf104,C17orf105,C17orf50,C17orf53,C17orf65,C17orf66,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CHAD,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ERBB2,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FNDC8,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR2909,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MSL1,MYCBPAP,MYL4,MYO19,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,ORMDL3,OSBPL7,PCGF2,PDK2,PEX12,PGAP3,PHB,PHOSPHO1,PIGW,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPP1R9B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RND2,RPL19,RPL23,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC35G3,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNF8,SNORA21,SNORD124,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SYNRG,TAC4,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UNC45B,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 57600000 Copy number Breast cancer References 19452229 AA06,AARSD1,AATF,ABCC3,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,AKAP1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,AP2B1,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf112,C17orf47,C17orf50,C17orf53,C17orf65,C17orf66,C17orf67,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CHAD,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,COX11,CRHR1,CSF3,CUEDC1,CWC25,DBF4B,DCAKD,DDX52,DGKE,DHRS11,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,DYNLL2,EFCAB13,EFTUD2,EIF1,EME1,EPN3,EPX,ERBB2,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FNDC8,FZD2,G6PC,G6PC3,GAS2L2,GAST,GDPD1,GFAP,GGNBP2,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR2117,MIR2909,MIR301A,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4734,MIR4736,MIR5010,MIR5089,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,MYO19,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PEX12,PGAP3,PHB,PHOSPHO1,PIGW,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRR11,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RND2,RNF126P1,RNF43,RPL19,RPL23,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCPEP1,SCRN2,SEPT4,SGCA,SKA2,SKAP1,SLC25A39,SLC35B1,SLC35G3,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SMG8,SNF8,SNORA21,SNORD124,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STXBP4,SUPT4H1,SYNRG,TAC4,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBKBP1,TBX21,TCAP,TEX14,TEX34,THRA,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UNC45B,UTP18,VAT1,VEZF1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 64200000 Gain Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AA06,AARSD1,AATF,ABCC3,ABI3,ACACA,ACBD4,ACE,ACLY,ACSF2,ADAM11,AKAP1,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APPBP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ASIC2,ATP5G1,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BRCA1,BRIP1,BZRAP1,BZRAP1-AS1,C17orf102,C17orf104,C17orf105,C17orf112,C17orf47,C17orf50,C17orf53,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf78,C17orf82,C17orf96,C17orf98,C1QL1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCDC47,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300LG,CD79B,CDC27,CDC6,CDK12,CDK5RAP3,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,COX11,CRHR1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHX40,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EME1,EPN3,EPX,ERBB2,ERN1,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FNDC8,FTSJ3,FZD2,G6PC,G6PC3,GAS2L2,GAST,GDPD1,GFAP,GGNBP2,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEATR6,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LIMD2,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC146880,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL2A,MGC57346,MIEN1,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4734,MIR4736,MIR4737,MIR5010,MIR5047,MIR5089,MIR548W,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,MYO19,NACA2,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PHB,PHOSPHO1,PIGW,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RGS9,RND2,RNF126P1,RNF43,RNFT1,RPL19,RPL23,RPL27,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCARNA20,SCN4A,SCPEP1,SCRN2,SEPT4,SGCA,SKA2,SKAP1,SLC25A39,SLC35B1,SLC35G3,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNORA21,SNORA76,SNORD104,SNORD124,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUPT4H1,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEX14,TEX2,TEX34,THRA,TLK2,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TTC25,TTLL6,TUBD1,TUBG1,TUBG2,UBE2Z,UBTF,UNC45B,USP32,UTP18,VAT1,VEZF1,VMP1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 31800000 81195210 Copy number Endometrioid adenocarcinoma CGH 16974079 AA06,AANAT,AARSD1,AATF,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ACTG1,ADAM11,AFMID,AKAP1,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARHGAP23,ARHGAP27,ARHGDIA,ARL16,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ASIC2,ASPSCR1,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf102,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf62,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf70,C17orf72,C17orf77,C17orf78,C17orf80,C17orf82,C17orf89,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC137,CCDC40,CCDC43,CCDC47,CCDC57,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD7,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSF3,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DCXR,DDX42,DDX5,DDX52,DGKE,DHRS11,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DUS1L,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERBB2,ERN1,ETV4,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM195B,FAM20A,FAM215A,FASN,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FMNL1,FN3K,FN3KRP,FNDC8,FOXJ1,FOXK2,FSCN2,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GCGR,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GPS1,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXDC,HEXIM1,HEXIM2,HGS,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LGALS3BP,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC3C,LRRC45,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAFG,MAFG-AS1,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3065,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MIR657,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,MYO19,NACA2,NAGLU,NAGS,NARF,NAT9,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NR1D1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCGF2,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHOSPHO1,PIGW,PIP4K2B,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R27,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYCR1,PYY,QRICH2,RAB37,RAB40B,RAB5C,RAC3,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RFNG,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SECTM1,SEPT4,SEPT9,SGCA,SGSH,SIRT7,SKA2,SKAP1,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC38A10,SLC39A11,SLC4A1,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TBC1D16,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TEX34,THRA,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM105,TMEM106A,TMEM106A-AS1,TMEM132E,TMEM235,TMEM92,TMEM99,TMUB2,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,UTS2R,VAT1,VEZF1,VMP1,VPS25,WBP2,WDR45L,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF385C,ZNF652,ZNF750,ZNF830,ZNHIT3,ZPBP2 chr17 31801769 32075536 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 AA06,ASIC2 chr17 31820231 31882204 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 AA06,ASIC2 chr17 31820233 31831152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31836750 33582750 Microdeletion renal disease Array CGH, FISH 17924346 AA06,ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,FNDC8,LIG3,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,TMEM132E,UNC45B,ZNF830 chr17 31847513 31847618 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31847513 31847619 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31847513 31847619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31851169 31851269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 31871285 31882151 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31871285 31882216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31871287 31882216 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ASIC2 chr17 31890369 32680966 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ASIC2,CCL11,CCL2,CCL7,CCL8 chr17 31893783 33277865 Deletion Autism FISH,qPCR 21055719 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,TMEM132E chr17 31893783 33277865 Deletion Schizophrenia FISH,qPCR 21055719 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,TMEM132E chr17 31895501 32364500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASIC2 chr17 31916586 31925775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31916586 31925775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31916619 31925775 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31921171 31921279 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31921171 31921279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31922987 33333394 Microdeletion Epilepsy HumanHap 550K, and HumanHap 317K 21635232 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,LIG3,TMEM132E,ZNF830 chr17 31923035 33323544 Deletion Autism Affymetrix Cytogenetics Whole-genome 2.7M array 22511894 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,LIG3,TMEM132E,ZNF830 chr17 31923035 33323544 Deletion Developmental delay Affymetrix Cytogenetics Whole-genome 2.7M array 22511894 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,LIG3,TMEM132E,ZNF830 chr17 31923035 33323544 Deletion Diabetes mellitus Affymetrix Cytogenetics Whole-genome 2.7M array 22511894 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,LIG3,TMEM132E,ZNF830 chr17 31923035 33323544 Deletion learning difficulties Affymetrix Cytogenetics Whole-genome 2.7M array 22511894 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,LIG3,TMEM132E,ZNF830 chr17 31923035 33323544 Deletion Renal cysts Affymetrix Cytogenetics Whole-genome 2.7M array 22511894 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,CCT6B,LIG3,TMEM132E,ZNF830 chr17 31925601 31965376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31925601 31965376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31925713 31964788 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31949191 31950191 Loss Osteosarcoma References 21215367 ASIC2 chr17 31965516 31969263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31965516 31969263 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 31965516 31969263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31974917 32020387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31974917 32020387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 31975640 32020387 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 32000000 36900000 Amplification Lung cancer Array-based CGH 19153074 AATF,ACACA,AP2B1,ARHGAP23,ASIC2,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCT6B,CISD3,DDX52,DHRS11,DUSP14,FNDC8,GAS2L2,GGNBP2,GPR179,HNF1B,LHX1,LIG3,LOC284100,LOC440434,LYZL6,MIR2909,MIR4726,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NLE1,PCGF2,PEX12,PIGW,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,SOCS7,SRCIN1,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TMEM132E,UNC45B,ZNF830,ZNHIT3 chr17 32004414 32005154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32004414 32044138 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 32022339 32031324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32022339 32031324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32022425 32031344 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 32032114 32039510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32032114 32039510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32032149 32032267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASIC2 chr17 32032353 32039519 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 32036161 32221507 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASIC2 chr17 32058858 32066000 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 ASIC2 chr17 32094778 32096735 Gain Normal 244K array 17666407 ASIC2 chr17 32112762 32113000 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 32112762 32113058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32112762 32113083 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 32117729 33246206 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,TMEM132E chr17 3215975 3238915 Loss Normal Quantitative PCR 18989455 NOT_FOUND chr17 32210639 32210739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 32213189 32220785 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ASIC2 chr17 32215836 32215936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 32215860 32923416 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1109K arrays 21546498 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,TMEM132E chr17 32217531 32217849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASIC2 chr17 32217537 32217855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASIC2 chr17 32250000 32400000 Duplication Autism Array CGH 22102821 ASIC2 chr17 32285149 33090510 LOH Normal High-resolution SNP genotyping 21211785 ASIC2,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,TMEM132E chr17 32302701 32663038 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASIC2,CCL11,CCL2,CCL7,CCL8 chr17 32302701 32663038 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASIC2,CCL11,CCL2,CCL7,CCL8 chr17 32324599 32325034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASIC2 chr17 32330334 32330434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 32334896 32334973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 32337790 32337845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 32338342 32338442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 32338641 32338733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 32341588 32614628 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ASIC2,CCL11,CCL2,CCL7 chr17 3235974 3236882 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3235974 3236882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 32364501 32381000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASIC2 chr17 32368612 32374596 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASIC2 chr17 32368612 32374596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32368612 32374596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32368612 32374607 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 32369061 32369161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 32380288 32488283 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASIC2 chr17 32380288 32488283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr17 32380288 32488283 Gain and loss Pancreatic cancer SNP array 17952125 ASIC2 chr17 32380288 32488283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASIC2 chr1 73238371 73238463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32422217 40869210 Duplication Acute myeloid leukemia - 21251322 AATF,ACACA,ACLY,AP2B1,ARHGAP23,ARL5C,ASIC2,ATP6V0A1,C17orf102,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CASC3,CCL1,CCL11,CCL13,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL2,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCL7,CCL8,CCR10,CCR7,CCT6B,CDC6,CDK12,CISD3,CNP,CNTNAP1,COASY,CSF3,CWC25,DDX52,DHRS11,DHX58,DNAJC7,DUSP14,EIF1,ERBB2,EZH1,FAM134C,FBXL20,FBXO47,FKBP10,FNDC8,GAS2L2,GAST,GGNBP2,GHDC,GJD3,GPR179,GRB7,GSDMA,GSDMB,HAP1,HCRT,HNF1B,HSD17B1,HSPB9,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LIG3,LINC00672,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MED24,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MLLT6,MLX,MMP28,MRM1,MRPL45,MSL1,MYO19,NAGLU,NEUROD2,NKIRAS2,NLE1,NR1D1,NT5C3L,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLEKHH3,PLXDC1,PNMT,PPP1R1B,PSMB3,PSMC3IP,PSMD3,PTRF,RAB5C,RAD51D,RAD51L3-RFFL,RAPGEFL1,RARA,RASL10B,RDM1,RFFL,RPL19,RPL23,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCE1,SNORA21,SNORD124,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,THRA,TMEM132E,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,UNC45B,WIPF2,ZNF385C,ZNF830,ZNHIT3,ZPBP2 chr17 3242249 3242575 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 32453044 32453237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASIC2 chr17 32464311 32464411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC2 chr17 3247148 3248454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3247148 3248454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3247510 3248454 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 32516036 32841015 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCL1,CCL11,CCL13,CCL2,CCL7,CCL8 chr17 32516036 32841015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCL1,CCL11,CCL13,CCL2,CCL7,CCL8 chr17 32516036 32841015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCL1,CCL11,CCL13,CCL2,CCL7,CCL8 chr17 32516044 32841015 Gain and loss Pancreatic cancer SNP array 17952125 CCL1,CCL11,CCL13,CCL2,CCL7,CCL8 chr17 32547458 32547552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32614628 32969580 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C17orf102,CCL1,CCL11,CCL13,CCL8,TMEM132E chr17 32629110 32629210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32629261 32629361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32629263 32629505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32642843 32848430 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCL1,CCL13,CCL8 chr1 7326636 7326736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 32698987 32699086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 3270612 3271577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3270612 3271577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3270612 3271577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 32713466 32713566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32722611 32722711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32727314 32727414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32734203 32734421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32744344 32744444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32748853 32795906 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 32748853 32807637 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 32761491 32761537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32766344 32766880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 32769616 32769716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32774830 32774930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32795906 33552889 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf102,CCT6B,FNDC8,LIG3,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,TMEM132E,UNC45B,ZNF830 chr17 32807041 32823773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 32807098 32823773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 32807098 32823773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 32809213 32832671 Loss Normal 244K array 17666407 NOT_FOUND chr17 32811911 32812941 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 32820000 33200000 Gain Acute lymphoblastic leukemia - 21339820 C17orf102,TMEM132E chr17 32825000 33206000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 C17orf102,TMEM132E chr17 3282914 3283885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3282914 3283885 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3282914 3283885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 32829486 32833158 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 32840524 32840897 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr17 32841078 32911709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf102,TMEM132E chr17 32841078 32911709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf102,TMEM132E chr17 32841428 32912485 Gain and loss Pancreatic cancer SNP array 17952125 C17orf102,TMEM132E chr17 32848123 32848218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32877171 32877221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 73289025 73310498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 3290058 3321839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR1E1 chr17 3290058 3321839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR1E1 chr17 3290058 3321841 Gain and loss Pancreatic cancer SNP array 17952125 OR1E1 chr17 32924064 32947707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM132E chr17 32924064 32947707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132E chr17 32924118 32947707 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132E chr17 32944946 32996556 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 TMEM132E chr17 32952046 33043559 Gain and loss Pancreatic cancer SNP array 17952125 TMEM132E chr17 32952053 33043633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM132E chr17 32952053 33043633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM132E chr17 32961012 32961112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM132E chr17 32969580 33297228 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CCT6B,ZNF830 chr17 32976159 32976259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 32991116 35706985 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AATF,ACACA,AP2B1,C17orf50,C17orf66,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCT6B,DHRS11,FNDC8,GAS2L2,GGNBP2,LHX1,LIG3,LYZL6,MIR2909,MMP28,MRM1,MYO19,NLE1,PEX12,PIGW,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,TAF15,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,UNC45B,ZNF830,ZNHIT3 chr17 3300000 10700000 Loss Prostate cancer Array CGH 16461572 ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GGT6,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,INCA1,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,MFSD6L,MINK1,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,ODF4,OR1E1,OR1E2,OR3A3,P2RX1,P2RX5,P2RX5-TAX1BP3,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNM3,PLD2,PLSCR3,POLR2A,PSMB6,RABEP1,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RPAIN,RPL26,RPL29P2,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC52A1,SMTNL2,SNORA48,SNORA67,SNORD10,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,STX8,TAX1BP3,TEKT1,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3300000 6500000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AIPL1,ALOX15,ANKFY1,ARRB2,ASPA,ATP2A3,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CTNS,CXCL16,CYB5D2,DERL2,DHX33,EMC6,ENO3,FAM64A,GGT6,GLTPD2,GP1BA,GSG2,INCA1,ITGAE,KIAA0753,KIF1C,LOC100130950,LOC339166,LOC728392,MED11,MINK1,MIS12,MYBBP1A,NLRP1,NUP88,OR1E1,OR1E2,OR3A3,P2RX1,P2RX5,P2RX5-TAX1BP3,PELP1,PFN1,PITPNM3,PLD2,PSMB6,RABEP1,RNF167,RPAIN,SCIMP,SHPK,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPATA22,SPNS2,SPNS3,TAX1BP3,TM4SF5,TRPV1,TRPV3,UBE2G1,USP6,VMO1,WSCD1,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3300000 6500000 Gain Breast cancer oligonucleotide CGH arrays 19602461 AIPL1,ALOX15,ANKFY1,ARRB2,ASPA,ATP2A3,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CTNS,CXCL16,CYB5D2,DERL2,DHX33,EMC6,ENO3,FAM64A,GGT6,GLTPD2,GP1BA,GSG2,INCA1,ITGAE,KIAA0753,KIF1C,LOC100130950,LOC339166,LOC728392,MED11,MINK1,MIS12,MYBBP1A,NLRP1,NUP88,OR1E1,OR1E2,OR3A3,P2RX1,P2RX5,P2RX5-TAX1BP3,PELP1,PFN1,PITPNM3,PLD2,PSMB6,RABEP1,RNF167,RPAIN,SCIMP,SHPK,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPATA22,SPNS2,SPNS3,TAX1BP3,TM4SF5,TRPV1,TRPV3,UBE2G1,USP6,VMO1,WSCD1,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3300000 6500000 Loss and deletion Multiple myeloma Array CGH 16616336 AIPL1,ALOX15,ANKFY1,ARRB2,ASPA,ATP2A3,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CTNS,CXCL16,CYB5D2,DERL2,DHX33,EMC6,ENO3,FAM64A,GGT6,GLTPD2,GP1BA,GSG2,INCA1,ITGAE,KIAA0753,KIF1C,LOC100130950,LOC339166,LOC728392,MED11,MINK1,MIS12,MYBBP1A,NLRP1,NUP88,OR1E1,OR1E2,OR3A3,P2RX1,P2RX5,P2RX5-TAX1BP3,PELP1,PFN1,PITPNM3,PLD2,PSMB6,RABEP1,RNF167,RPAIN,SCIMP,SHPK,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPATA22,SPNS2,SPNS3,TAX1BP3,TM4SF5,TRPV1,TRPV3,UBE2G1,USP6,VMO1,WSCD1,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr1 73300138 73320765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 73300774 73329680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 33030796 33281814 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CCT6B chr1 73303356 73324899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 73304257 73312835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 33046526 33077600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33046526 33077600 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33046526 33077600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33047594 35805344 Gain Breast cancer 244K CGH oligonucleotide microarrays 20932292 AATF,ACACA,AP2B1,C17orf50,C17orf66,C17orf78,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCT6B,DHRS11,FNDC8,GAS2L2,GGNBP2,LHX1,LIG3,LYZL6,MIR2909,MMP28,MRM1,MYO19,NLE1,PEX12,PIGW,RAD51D,RAD51L3-RFFL,RASL10B,RDM1,RFFL,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,TADA2A,TAF15,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,UNC45B,ZNF830,ZNHIT3 chr1 73305579 73320808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 33094474 33094574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 33112480 33112530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 33117010 33117042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 33120546 33179209 Copy number renal disease - 20603712 NOT_FOUND chr17 33120546 33179209 Deletion bilateral cystic kidneys quantitative multiplex PCR 16371430 NOT_FOUND chr17 33120546 33179209 Deletion Diabetes mellitus Quantitative Multiplex-PCR 19417042 NOT_FOUND chr17 33120546 33179209 Deletion multicystic dysplasia quantitative multiplex PCR 16371430 NOT_FOUND chr17 33120546 33179209 Deletion renal disease quantitative multiplex PCR 16371430 NOT_FOUND chr17 33120548 33179182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33120548 33179209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33120548 33179209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33140728 33649105 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCT6B,FNDC8,LIG3,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,UNC45B,ZNF830 chr17 33161001 33166500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 33174139 33174239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 33176001 33180500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 33206638 78774742 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf77,C17orf78,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERBB2,ERN1,ETV4,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FMNL1,FNDC8,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LGALS3BP,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO19,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHOSPHO1,PIGW,PIP4K2B,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,QRICH2,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC4A1,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TBC1D16,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMEM99,TMUB2,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 33206638 78774742 Copy number gain Normal High-resolution SNP genotyping 21211785 AANAT,AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,AP2B1,APOH,APPBP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf50,C17orf53,C17orf58,C17orf64,C17orf65,C17orf66,C17orf67,C17orf69,C17orf72,C17orf77,C17orf78,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCR10,CCR7,CCT6B,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHRS11,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERBB2,ERN1,ETV4,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FMNL1,FNDC8,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAS2L2,GAST,GDPD1,GFAP,GGA3,GGNBP2,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LGALS3BP,LHX1,LIG3,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR2909,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MMP28,MPO,MPP2,MPP3,MRC2,MRM1,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,MYO19,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NLE1,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PEX12,PGAP3,PGS1,PHB,PHOSPHO1,PIGW,PIP4K2B,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,QRICH2,RAB37,RAB5C,RAD51C,RAD51D,RAD51L3-RFFL,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RBFOX3,RDM1,RECQL5,RFFL,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC35G3,SLC39A11,SLC4A1,SLC9A3R1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNORD7,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TAF15,TANC2,TBC1D16,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMEM99,TMUB2,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNC45B,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF385C,ZNF652,ZNF830,ZNHIT3,ZPBP2 chr17 33218164 33218223 Deletion Neurofibromatosis High-resolution array CGH 20686819 NOT_FOUND chr17 3324153 3349450 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 OR1E2,OR3A3,SPATA22 chr1 73325120 73487705 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr17 3326046 3349449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR1E2,SPATA22 chr17 3326046 3349449 Gain and loss Pancreatic cancer SNP array 17952125 OR1E2,SPATA22 chr17 3326046 3349449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR1E2,SPATA22 chr17 33267468 33427467 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CCT6B,LIG3,RAD51D,RAD51L3-RFFL,RFFL,ZNF830 chr17 33287994 33430126 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 CCT6B,LIG3,RAD51D,RAD51L3-RFFL,RFFL,ZNF830 chr17 33289079 33649105 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FNDC8,LIG3,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,UNC45B,ZNF830 chr17 33289079 33649105 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FNDC8,LIG3,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,UNC45B,ZNF830 chr17 33289079 33955396 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2B1,FNDC8,LIG3,NLE1,PEX12,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,UNC45B,ZNF830 chr17 33289079 33955396 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2B1,FNDC8,LIG3,NLE1,PEX12,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,UNC45B,ZNF830 chr17 33289079 34010545 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2B1,FNDC8,LIG3,NLE1,PEX12,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,UNC45B,ZNF830 chr17 33289079 34010545 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2B1,FNDC8,LIG3,NLE1,PEX12,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,UNC45B,ZNF830 chr17 33297228 33597572 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 FNDC8,LIG3,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,UNC45B chr17 33341875 33341981 Gain and loss Pancreatic cancer SNP array 17952125 RAD51L3-RFFL,RFFL chr17 33341875 33341981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51L3-RFFL,RFFL chr17 33341876 33341981 Gain and loss Pancreatic cancer SNP array 17952125 RAD51L3-RFFL,RFFL chr17 33358342 33369355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51L3-RFFL,RFFL chr17 33358354 33369355 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAD51L3-RFFL,RFFL chr17 33358401 33369298 Gain and loss Pancreatic cancer SNP array 17952125 RAD51L3-RFFL,RFFL chr17 33365251 33402000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAD51L3-RFFL,RFFL chr1 73337120 73337220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 33376424 33649105 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FNDC8,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,UNC45B chr17 33376424 33649105 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FNDC8,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,UNC45B chr17 33376424 34010545 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2B1,FNDC8,NLE1,PEX12,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SLFN5,SNORD7,UNC45B chr17 3337967 3338047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 3339284 3580845 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ASPA,CTNS,EMC6,P2RX5,P2RX5-TAX1BP3,SHPK,SPATA22,TAX1BP3,TRPV1,TRPV3 chr17 33402001 33408500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAD51L3-RFFL,RFFL chr17 33408501 33416250 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAD51L3-RFFL,RFFL chr17 33412080 33421451 Gain and loss Pancreatic cancer SNP array 17952125 RAD51L3-RFFL,RFFL chr17 33412080 33422205 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAD51L3-RFFL,RFFL chr17 33412080 33422205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51L3-RFFL,RFFL chr17 33412080 33607593 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FNDC8,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,UNC45B chr17 33416251 33579500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FNDC8,NLE1,RAD51D,RAD51L3-RFFL,RFFL,SLC35G3,SLFN5,UNC45B chr1 73343063 73344548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33470938 33712771 Copy number Lung cancer paired-end sequencing 18438408 SLC35G3,SLFN11,SLFN5,UNC45B chr17 33473508 33473608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 33497739 33653559 Substitutions and indels small cell lung cancer array-CGH 20016488 SLC35G3,SLFN5,UNC45B chr17 33514087 33514187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC45B chr17 33529126 33664621 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 SLFN5 chr17 33529260 33551942 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr17 33535461 33705009 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 SLFN11,SLFN5 chr17 33541291 33552235 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 33541291 33552247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33541292 33552182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33567716 33567821 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33567716 33567822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33567716 33567822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33569356 33569407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 3356980 3357980 Gain Osteosarcoma References 21215367 SPATA22 chr17 33579501 33655750 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLFN5 chr17 33591517 33602455 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 SLFN5 chr17 33591517 33607593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLFN5 chr17 33591517 33607593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLFN5 chr17 33591832 33602390 Gain and loss Pancreatic cancer SNP array 17952125 SLFN5 chr17 33597572 34362084 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AP2B1,C17orf50,C17orf66,CCL14,CCL15,CCL15-CCL14,CCL16,CCL23,CCL5,GAS2L2,LYZL6,MMP28,PEX12,RASL10B,RDM1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SNORD7,TAF15 chr17 3360546 3408039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASPA,SPATA22 chr17 3360546 3408039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASPA,SPATA22 chr17 33605594 43055641 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 AARSD1,AATF,ACACA,ACLY,ADAM11,AOC2,AOC3,AOC4,AP2B1,ARHGAP23,ARL4D,ARL5C,ASB16,ATP6V0A1,ATXN7L3,BECN1,BRCA1,C17orf104,C17orf105,C17orf50,C17orf53,C17orf65,C17orf66,C17orf78,C17orf96,C17orf98,C1QL1,CACNB1,CASC3,CCDC103,CCDC43,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCR10,CCR7,CD300LG,CDC6,CDK12,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,CWC25,DBF4B,DDX52,DHRS11,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GJC1,GJD3,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HIGD1B,HNF1B,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,ITGA2B,JUP,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LSM12,LYZL6,MED1,MED24,MEOX1,MIEN1,MIR2117,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL45,MSL1,MYO19,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLEKHH3,PLXDC1,PNMT,PPP1R1B,PPY,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RND2,RPL19,RPL23,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SMARCE1,SNORA21,SNORD124,SNORD7,SOCS7,SOST,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TUBG1,TUBG2,UBTF,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZNHIT3,ZPBP2 chr17 33605602 33675352 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 33605602 33675352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33605602 33675352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33605602 33675352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3363235 3408039 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ASPA,SPATA22 chr17 3363236 3408039 Gain and loss Pancreatic cancer SNP array 17952125 ASPA,SPATA22 chr17 33640884 33640985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33640886 33640985 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33652813 38104734 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,AP2B1,ARHGAP23,ARL5C,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,GAS2L2,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MMP28,MRM1,MRPL45,MYO19,NEUROD2,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RASL10B,RDM1,RPL19,RPL23,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SNORA21,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,ZNHIT3,ZPBP2 chr17 33674301 35167000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP2B1,C17orf50,C17orf66,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,DHRS11,GAS2L2,GGNBP2,LYZL6,MMP28,MRM1,MYO19,PEX12,PIGW,RASL10B,RDM1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SNORD7,TAF15,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 33680175 54454623 Substitutions and indels small cell lung cancer array-CGH 20016488 AARSD1,AATF,ABCC3,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,AP2B1,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf112,C17orf50,C17orf53,C17orf65,C17orf66,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CHAD,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,COX11,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHRS11,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ERBB2,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAS2L2,GAST,GFAP,GGNBP2,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,LYZL6,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR2909,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MMD,MMP28,MPP2,MPP3,MRM1,MRPL10,MRPL27,MRPL45,MRPL45P2,MSL1,MYCBPAP,MYL4,MYO19,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PEX12,PGAP3,PHB,PHOSPHO1,PIGW,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPP1R9B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RND2,RPL19,RPL23,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SMARCE1,SNF8,SNORA21,SNORD124,SNORD7,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STXBP4,SYNRG,TAC4,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652,ZNHIT3,ZPBP2 chr1 73369395 73369561 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33698876 42666324 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AARSD1,AATF,ACACA,ACLY,AOC2,AOC3,AOC4,AP2B1,ARHGAP23,ARL4D,ARL5C,ASB16,ATP6V0A1,ATXN7L3,BECN1,BRCA1,C17orf105,C17orf50,C17orf53,C17orf65,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CASC3,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCR10,CCR7,CD300LG,CDC6,CDK12,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,CWC25,DDX52,DHRS11,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FZD2,G6PC,G6PC3,GAS2L2,GAST,GGNBP2,GHDC,GJD3,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HNF1B,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,ITGA2B,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LSM12,LYZL6,MED1,MED24,MEOX1,MIEN1,MIR2117,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MLLT6,MLX,MMP28,MPP2,MPP3,MRM1,MRPL45,MSL1,MYO19,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLEKHH3,PLXDC1,PNMT,PPP1R1B,PPY,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RASL10B,RDM1,RND2,RPL19,RPL23,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SLFN11,SLFN12,SLFN12L,SLFN13,SLFN14,SMARCE1,SNORA21,SNORD124,SNORD7,SOCS7,SOST,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TUBG1,TUBG2,UBTF,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZNHIT3,ZPBP2 chr17 33706517 33732627 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 33706517 33732627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33706517 33732627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 33706517 33732627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 33708908 33767330 Gain Normal 244K array 17666407 SLFN12,SLFN13 chr17 33735019 33753219 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLFN12 chr17 33735019 33753219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLFN12 chr17 33735019 33753219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLFN12 chr17 33735874 33753219 Gain and loss Pancreatic cancer SNP array 17952125 SLFN12 chr17 33739501 33754000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLFN12 chr17 33739511 40889276 Copy number Lung cancer paired-end sequencing 18438408 AATF,ACACA,ACLY,AP2B1,ARHGAP23,ARL5C,ATP6V0A1,C17orf50,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CASC3,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CCR10,CCR7,CDC6,CDK12,CISD3,CNP,CNTNAP1,COASY,CSF3,CWC25,DDX52,DHRS11,DHX58,DNAJC7,DUSP14,EIF1,ERBB2,EZH1,FAM134C,FBXL20,FBXO47,FKBP10,GAS2L2,GAST,GGNBP2,GHDC,GJD3,GPR179,GRB7,GSDMA,GSDMB,HAP1,HCRT,HNF1B,HSD17B1,HSPB9,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LHX1,LINC00672,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MED24,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MLLT6,MLX,MMP28,MRM1,MRPL45,MSL1,MYO19,NAGLU,NEUROD2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PCGF2,PEX12,PGAP3,PIGW,PIP4K2B,PLEKHH3,PLXDC1,PNMT,PPP1R1B,PSMB3,PSMC3IP,PSMD3,PTRF,RAB5C,RAPGEFL1,RARA,RASL10B,RDM1,RPL19,RPL23,SLFN12,SLFN12L,SLFN13,SLFN14,SMARCE1,SNORA21,SNORD124,SNORD7,SOCS7,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,THRA,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,WIPF2,ZNF385C,ZNHIT3,ZPBP2 chr17 3374001 3652000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASPA,CTNS,EMC6,GSG2,ITGAE,P2RX5,P2RX5-TAX1BP3,SHPK,SPATA22,TAX1BP3,TRPV1,TRPV3 chr17 33748933 33811291 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLFN12,SLFN12L,SLFN13 chr17 33753580 33753680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLFN12 chr17 33761001 33762500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLFN13 chr17 33761531 33809541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLFN12L,SLFN13 chr17 33761531 33809541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLFN12L,SLFN13 chr17 33761531 33809541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLFN12L,SLFN13 chr17 33761654 33809431 Gain and loss Pancreatic cancer SNP array 17952125 SLFN12L,SLFN13 chr17 33762762 33795562 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLFN13 chr17 33785091 33818975 Indels Normal Affymetrix and Illumina arrays 20811451 SLFN12L chr17 33803799 34010545 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2B1,PEX12,SLFN12L,SLFN14,SNORD7 chr17 33803799 34010545 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP2B1,PEX12,SLFN12L,SLFN14,SNORD7 chr17 33805205 33805205 Copy number Prostate cancer Illumina GA II sequencer 21307934 SLFN12L chr17 33805634 34663603 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 AP2B1,C17orf50,C17orf66,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,GAS2L2,LYZL6,MMP28,PEX12,RASL10B,RDM1,SLFN12L,SLFN14,SNORD7,TAF15,TBC1D3B,TBC1D3C chr17 33811501 33813500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLFN12L chr17 33823001 33889500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLFN14 chr17 33845000 35540000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 AATF,ACACA,AP2B1,C17orf50,C17orf66,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,DHRS11,GAS2L2,GGNBP2,LHX1,LYZL6,MIR2909,MMP28,MRM1,MYO19,PEX12,PIGW,RASL10B,RDM1,SLFN14,SNORD7,TAF15,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 33876678 33920734 Gain and loss Pancreatic cancer SNP array 17952125 AP2B1,PEX12,SLFN14,SNORD7 chr17 33876678 33920891 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AP2B1,PEX12,SLFN14,SNORD7 chr17 33876678 33920891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP2B1,PEX12,SLFN14,SNORD7 chr17 33876678 33920891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP2B1,PEX12,SLFN14,SNORD7 chr17 33889501 33951500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP2B1,PEX12,SNORD7 chr17 33906176 33906276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 33939785 34015709 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AP2B1 chr17 33939785 34015709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP2B1 chr17 33939785 34015709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP2B1 chr17 33941331 33988592 Gain and loss Pancreatic cancer SNP array 17952125 AP2B1 chr17 33945492 33962446 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2B1 chr17 33949805 35559815 Amplification Gastric cancer array CGH 21811585 AATF,ACACA,AP2B1,C17orf50,C17orf66,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,DHRS11,GAS2L2,GGNBP2,LHX1,LYZL6,MIR2909,MMP28,MRM1,MYO19,PIGW,RASL10B,RDM1,TAF15,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 33951501 34020500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP2B1 chr17 33999357 34034160 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2B1 chr17 34020501 34111500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP2B1,C17orf50,GAS2L2,MMP28,RASL10B chr17 34047293 34047731 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AP2B1 chr17 34070996 34071051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 34081482 34084703 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 34081482 34084703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34083141 34084274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 34089604 34566438 Duplication Intellectual disability Array CGH 22102821 C17orf50,C17orf66,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,LYZL6,MMP28,RDM1,TAF15,TBC1D3B chr17 3410 25899435 Substitutions and indels small cell lung cancer array-CGH 20016488 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KSR1,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TBC1D3P5,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 34111501 34163500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MMP28,TAF15 chr17 34115398 34139582 Gain or loss Breast cancer - 20668451 MMP28,TAF15 chr17 34115398 34139582 Gain or loss Cancer - 20668451 MMP28,TAF15 chr17 34115398 34139582 Gain or loss Lung cancer - 20668451 MMP28,TAF15 chr17 34115398 34139582 Gain or loss Ovarian cancer - 20668451 MMP28,TAF15 chr17 34115398 34139582 Gain or loss Pancreas cancer - 20668451 MMP28,TAF15 chr17 34115398 34139582 Gain or loss Prostate cancer - 20668451 MMP28,TAF15 chr17 34115399 34139557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMP28,TAF15 chr17 34115399 34139557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP28,TAF15 chr17 34115401 34137578 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MMP28,TAF15 chr17 34115412 34136964 Gain and loss Pancreatic cancer SNP array 17952125 MMP28,TAF15 chr17 34137612 34137977 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF15 chr17 34140138 34144823 Gain and loss Pancreatic cancer SNP array 17952125 TAF15 chr17 34141579 34141699 Gain and loss Pancreatic cancer SNP array 17952125 TAF15 chr17 34141581 34141699 Gain and loss Pancreatic cancer SNP array 17952125 TAF15 chr17 34141581 34141699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF15 chr17 34143675 34158157 Gain or loss Breast cancer - 20668451 TAF15 chr17 34143675 34158157 Gain or loss Cancer - 20668451 TAF15 chr17 34143675 34158157 Gain or loss Lung cancer - 20668451 TAF15 chr17 34143675 34158157 Gain or loss Ovarian cancer - 20668451 TAF15 chr17 34143675 34158157 Gain or loss Pancreas cancer - 20668451 TAF15 chr17 34143675 34158157 Gain or loss Prostate cancer - 20668451 TAF15 chr17 34143676 34158084 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF15 chr17 34143676 34158084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF15 chr17 34143676 34158084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF15 chr17 34143676 34159596 Gain and loss Pancreatic cancer SNP array 17952125 TAF15 chr17 34147697 38680670 Amplification Breast cancer Array CGH 16620391 AATF,ACACA,ARHGAP23,ARL5C,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CASC3,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CDC6,CDK12,CISD3,CSF3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,GGNBP2,GJD3,GPR179,GRB7,GSDMA,GSDMB,HNF1B,IGFBP4,IKZF3,LASP1,LHX1,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,LYZL6,MED1,MED24,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MRM1,MRPL45,MSL1,MYO19,NEUROD2,NR1D1,ORMDL3,PCGF2,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,PSMD3,RAPGEFL1,RARA,RDM1,RPL19,RPL23,SNORA21,SNORD124,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,THRA,TNS4,TOP2A,WIPF2,ZNHIT3,ZPBP2 chr17 34153267 38083571 Gain Prostate cancer Array CGH 18632612 AATF,ACACA,ARHGAP23,ARL5C,C17orf66,C17orf78,C17orf96,C17orf98,CACNB1,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,CCL5,CDK12,CISD3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,GGNBP2,GPR179,GRB7,GSDMB,HNF1B,IKZF3,LASP1,LHX1,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LYZL6,MED1,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MRM1,MRPL45,MYO19,NEUROD2,ORMDL3,PCGF2,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,RDM1,RPL19,RPL23,SNORA21,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TAF15,TBC1D3,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,ZNHIT3,ZPBP2 chr17 3415489 3459454 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TRPV3 chr17 3415489 3459454 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 TRPV3 chr17 3415491 3447141 Gain and loss Pancreatic cancer SNP array 17952125 TRPV3 chr17 3415493 3447085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPV3 chr17 3415493 3447085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPV3 chr17 34162528 34174003 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF15 chr17 34162528 34174003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF15 chr17 34162528 34174003 Gain and loss Pancreatic cancer SNP array 17952125 TAF15 chr17 34162528 34174003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF15 chr17 34163501 34279000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf66,CCL5,LYZL6,RDM1,TAF15 chr17 34175470 34209684 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C17orf66,CCL5 chr17 34175470 34209684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf66,CCL5 chr17 34175470 34209684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf66,CCL5 chr17 34177324 34209684 Gain and loss Pancreatic cancer SNP array 17952125 C17orf66,CCL5 chr17 34186213 34186313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C17orf66 chr17 34186452 34186532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C17orf66 chr1 73419055 73423272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 34191415 34191510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C17orf66 chr17 34200000 34500000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL4,CCL5,LYZL6,RDM1,TBC1D3B chr17 34210973 34242007 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 34210973 34242007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34210973 34242007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 34210973 34242007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34215401 34220000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 34216976 34218433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 34217158 34217217 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 NOT_FOUND chr17 34244865 34251190 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RDM1 chr17 34244867 34251168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RDM1 chr17 34244867 34251168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RDM1 chr17 34244968 34251141 Gain and loss Pancreatic cancer SNP array 17952125 RDM1 chr17 34257644 34263579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LYZL6,RDM1 chr17 34257644 34263579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LYZL6,RDM1 chr17 34257644 34263579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYZL6,RDM1 chr17 34259868 34263523 Gain and loss Pancreatic cancer SNP array 17952125 LYZL6 chr17 34262642 34262773 Gain and loss Pancreatic cancer SNP array 17952125 LYZL6 chr17 34262642 34262773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYZL6 chr17 34262642 34262774 Gain and loss Pancreatic cancer SNP array 17952125 LYZL6 chr17 34279001 34333000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279893 34331541 Gain or loss Breast cancer - 20668451 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279893 34331541 Gain or loss Cancer - 20668451 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279893 34331541 Gain or loss Lung cancer - 20668451 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279893 34331541 Gain or loss Ovarian cancer - 20668451 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279893 34331541 Gain or loss Pancreas cancer - 20668451 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279893 34331541 Gain or loss Prostate cancer - 20668451 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279893 34331541 Translate Acute myeloid leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279894 34331541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279894 34331541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279894 34331541 Gain and loss Pancreatic cancer SNP array 17952125 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34279894 34331541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34290000 34680000 Loss Breast cancer aCGH 21509527 CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C chr17 34293388 35742374 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,C17orf78,CCL14,CCL15,CCL15-CCL14,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34295294 34295387 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr17 34296978 34328099 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCL14,CCL15,CCL15-CCL14,CCL16 chr1 73429962 73430128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34303536 34308523 Gain Esophageal adenocarcinoma MLPA 18820669 CCL16 chr17 34304766 34337187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCL14,CCL15,CCL15-CCL14,CCL16 chr17 34316108 35336345 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL15,CCL15-CCL14,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 3432525 3432625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPV3 chr17 34330358 36141535 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,C17orf78,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,DDX52,DHRS11,DUSP14,GGNBP2,HNF1B,LHX1,MIR2909,MRM1,MYO19,PIGW,SYNRG,TADA2A,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 3433082 3433168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPV3 chr17 34333001 34518000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCL18,CCL23,CCL3,CCL4,TBC1D3B chr17 34337246 35343602 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 343377 22164889 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 343377 440727 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 VPS53 chr17 343377 9814021 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABR,ACADVL,ACAP1,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH10,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 34340508 34340540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCL23 chr17 34346244 34377181 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 34346244 34377181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34346244 34377181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3435620 3469192 Gain Normal Birdsuite, version 1.5.2 22087296 TRPV1,TRPV3 chr17 34362084 35508852 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AATF,ACACA,CCL18,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34432801 34452035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCL4 chr17 34433041 34433141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 34439005 34462984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 34439685 34462984 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 34439685 34462984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34439685 34462984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34445738 34446405 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 34445738 34447572 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 34447581 34447681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 34449802 34494539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TBC1D3B chr17 34451207 34819827 Deletion Neurofibromatosis High-resolution array CGH 20686819 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H chr17 34473083 34561298 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B chr17 34473083 34561298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B chr17 34473083 34561298 Gain and loss Pancreatic cancer SNP array 17952125 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B chr17 34473083 34561298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B chr17 34475107 34815461 Deletion Peripheral nerve sheath tumors High-resolution array CGH 20686819 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3G,TBC1D3H chr17 34490844 34490966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34501175 34533532 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CCL3L1,CCL3L3,TBC1D3B chr17 34509135 35075749 LOH Normal High-resolution SNP genotyping 21211785 CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34509135 35077085 LOH Normal High-resolution SNP genotyping 21211785 CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34509135 35079863 LOH Normal High-resolution SNP genotyping 21211785 CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34509135 35080048 LOH Normal High-resolution SNP genotyping 21211785 CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34509135 35080199 LOH Normal High-resolution SNP genotyping 21211785 CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34509135 35480915 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34515456 35343602 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34517154 35466807 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34518001 34519500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 34519501 34574500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCL3L1,CCL3L3,CCL4L1,CCL4L2 chr17 34522267 34625730 Copy number HIV/AIDS Meta-analysis 21209899 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3C chr17 34533532 35278849 LOH Normal High-resolution SNP genotyping 21211785 CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34536875 35278096 LOH Normal High-resolution SNP genotyping 21211785 CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34536875 35394836 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr1 73454531 73483916 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 34545604 35352064 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34545604 35379193 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 3454662 3454806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPV3 chr17 34566673 34575539 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 34570354 34575542 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 34570354 34575918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34570354 34575918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34574501 34655000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3C chr17 3458304 3486365 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TRPV1,TRPV3 chr17 3458305 3486365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPV1,TRPV3 chr17 3458305 3486365 Gain and loss Pancreatic cancer SNP array 17952125 TRPV1,TRPV3 chr17 3458305 3486365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPV1,TRPV3 chr17 34583235 34607427 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D3C chr17 34583235 34607428 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBC1D3C chr17 34583235 34607428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3C chr17 34583235 34607428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3C chr17 34584028 35471905 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34587129 35375969 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3C,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34596555 35471905 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34610061 34614506 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 34610062 34614506 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 34610062 34614506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34610062 34614506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 34610096 34614506 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 34612208 34732327 Gain Autism qPCR 20531469 CCL3L1,CCL3L3,CCL4L1,CCL4L2 chr17 34619129 35333243 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34619129 35334343 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34620314 34635500 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CCL3L1,CCL3L3 chr17 34620316 34635500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCL3L1,CCL3L3 chr17 34620316 34635500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCL3L1,CCL3L3 chr17 34620316 34635500 Gain and loss Pancreatic cancer SNP array 17952125 CCL3L1,CCL3L3 chr17 34620316 34635500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCL3L1,CCL3L3 chr17 34623188 35337679 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34623188 35342406 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34623188 35375969 LOH Normal High-resolution SNP genotyping 21211785 AATF,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34623188 35480915 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34623188 35508116 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34623188 35746271 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,C17orf78,CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34634168 35387448 Amplification Breast cancer Illumina high-density SNP arrays 18852474 AATF,CCL4L1,CCL4L2,DHRS11,GGNBP2,LHX1,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 34644928 35410945 LOH Normal High-resolution SNP genotyping 21211785 AATF,DHRS11,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,TBC1D3G,TBC1D3H,ZNHIT3 chr17 346628 469478 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 VPS53 chr17 34670000 39170000 Amplification Breast cancer aCGH 21509527 AATF,ACACA,ARHGAP23,ARL5C,C17orf78,C17orf96,C17orf98,CACNB1,CASC3,CCR7,CDC6,CDK12,CISD3,CSF3,CWC25,DDX52,DHRS11,DUSP14,ERBB2,FBXL20,FBXO47,GGNBP2,GJD3,GPR179,GRB7,GSDMA,GSDMB,HNF1B,IGFBP4,IKZF3,KRT10,KRT12,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT39,KRT40,KRTAP3-1,KRTAP3-2,KRTAP3-3,LASP1,LHX1,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR2909,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MRM1,MRPL45,MSL1,MYO19,NEUROD2,NR1D1,ORMDL3,PCGF2,PGAP3,PIGW,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,PSMD3,RAPGEFL1,RARA,RPL19,RPL23,SMARCE1,SNORA21,SNORD124,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TBC1D3,TBC1D3F,TBC1D3G,TBC1D3H,TCAP,THRA,TMEM99,TNS4,TOP2A,WIPF2,ZNHIT3,ZPBP2 chr17 34670365 34811402 Gain or loss Breast cancer - 20668451 TBC1D3G,TBC1D3H chr17 34670365 34811402 Gain or loss Cancer - 20668451 TBC1D3G,TBC1D3H chr17 34670365 34811402 Gain or loss Lung cancer - 20668451 TBC1D3G,TBC1D3H chr17 34670365 34811402 Gain or loss Ovarian cancer - 20668451 TBC1D3G,TBC1D3H chr17 34670365 34811402 Gain or loss Pancreas cancer - 20668451 TBC1D3G,TBC1D3H chr17 34670365 34811402 Gain or loss Prostate cancer - 20668451 TBC1D3G,TBC1D3H chr17 34670374 34811424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBC1D3G,TBC1D3H chr17 34670374 34811424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3G,TBC1D3H chr17 34670374 34811424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3G,TBC1D3H chr17 34670374 34811435 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D3G,TBC1D3H chr17 34672843 34758459 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 TBC1D3H chr17 34701673 34702274 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 34780654 35904972 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 AATF,ACACA,C17orf78,DHRS11,DUSP14,GGNBP2,LHX1,MIR2909,MRM1,MYO19,PIGW,SYNRG,TADA2A,TBC1D3G,ZNHIT3 chr17 34786206 35245713 Amplification Breast cancer FISH 17142309 DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3G,ZNHIT3 chr17 34800000 35180000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3G,ZNHIT3 chr17 34814063 34861053 Copy number Gastric cancer Human cDNA microarrays 17229543 MYO19,ZNHIT3 chr17 34814063 34861053 Gain or loss Breast cancer - 20668451 MYO19,ZNHIT3 chr17 34814063 34861053 Gain or loss Cancer - 20668451 MYO19,ZNHIT3 chr17 34814063 34861053 Gain or loss Lung cancer - 20668451 MYO19,ZNHIT3 chr17 34814063 34861053 Gain or loss Ovarian cancer - 20668451 MYO19,ZNHIT3 chr17 34814063 34861053 Gain or loss Pancreas cancer - 20668451 MYO19,ZNHIT3 chr17 34814063 34861053 Gain or loss Prostate cancer - 20668451 MYO19,ZNHIT3 chr17 34814075 34861053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO19,ZNHIT3 chr17 34814075 34861053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO19,ZNHIT3 chr17 34815057 34861030 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MYO19,ZNHIT3 chr17 34816380 34861030 Gain and loss Pancreatic cancer SNP array 17952125 MYO19,ZNHIT3 chr17 34832933 34879137 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYO19,ZNHIT3 chr17 34847001 34879137 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYO19,ZNHIT3 chr17 34847001 34883928 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYO19,ZNHIT3 chr17 3486511 3513146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHPK,TRPV1 chr17 3486511 3513146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHPK,TRPV1 chr17 3486765 3511581 Gain and loss Pancreatic cancer SNP array 17952125 SHPK,TRPV1 chr17 34871264 34944326 Copy number Lung cancer - 20668451 GGNBP2,MYO19,PIGW chr17 34871264 34944326 Gain or loss Breast cancer - 20668451 GGNBP2,MYO19,PIGW chr17 34871264 34944326 Gain or loss Cancer - 20668451 GGNBP2,MYO19,PIGW chr17 34871264 34944326 Gain or loss Lung cancer - 20668451 GGNBP2,MYO19,PIGW chr17 34871264 34944326 Gain or loss Ovarian cancer - 20668451 GGNBP2,MYO19,PIGW chr17 34871264 34944326 Gain or loss Pancreas cancer - 20668451 GGNBP2,MYO19,PIGW chr17 34871264 34944326 Gain or loss Prostate cancer - 20668451 GGNBP2,MYO19,PIGW chr17 34871265 34941095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GGNBP2,MYO19,PIGW chr17 34871818 34942044 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GGNBP2,MYO19,PIGW chr17 34871818 34942044 Gain and loss Pancreatic cancer SNP array 17952125 GGNBP2,MYO19,PIGW chr17 34892265 34892369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGW chr17 34892270 34892368 Gain and loss Pancreatic cancer SNP array 17952125 PIGW chr17 34892270 34892368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGW chr17 34900000 35300000 Amplification Cervical cancer Array CGH 21063398 DHRS11,GGNBP2,LHX1,MRM1 chr17 3491925 3523885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHPK,TRPV1 chr17 34925507 35139027 Amplification Gastric cancer array CGH 21811585 DHRS11,GGNBP2,MRM1 chr17 34934413 34935020 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GGNBP2 chr17 34955883 34955984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS11 chr17 34955888 34955963 Gain and loss Pancreatic cancer SNP array 17952125 DHRS11 chr17 34961387 35506166 Amplification Gastric cancer array CGH 21811585 AATF,ACACA,LHX1,MIR2909,MRM1 chr17 34979166 35227087 Amplification Breast cancer 32K, 33K and 38K array-based CGH 20459607 NOT_FOUND chr1 73498586 73502199 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr17 34987770 35457855 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AATF,ACACA,LHX1,MIR2909 chr1 7349892 7374254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAMTA1 chr17 34989583 35061419 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 NOT_FOUND chr17 35000000 35200000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 NOT_FOUND chr17 35005501 35065500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 35012153 35047410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 35013548 35017701 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35013548 35017701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35013548 35017701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35014577 35017699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35021703 35021803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 35021733 35021833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 35029392 35032292 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35029392 35032292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35036704 35046404 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 35036704 35046404 Gain or loss Cancer - 20668451 NOT_FOUND chr17 35036704 35046404 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 35036704 35046404 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 35036704 35046404 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 35036704 35046404 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 35036705 35046401 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35036705 35046404 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35036705 35046404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35036705 35046404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35044794 35843609 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,C17orf78,LHX1,MIR2909,TADA2A chr17 35046844 35073214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35046908 35073248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35046937 35073250 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 35046938 35073248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35046938 35073248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35058324 35104753 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 35065501 35086000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 35067383 35272328 Amplification Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr17 35069593 35087331 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 35069593 35089368 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 35073966 35076326 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35073966 35076326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35073966 35076326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35073966 35076326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35074518 35115526 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 35076296 35221880 Amplification Gastric cancer array CGH 21811585 NOT_FOUND chr17 35077760 35080254 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35077760 35080254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35077760 35080254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35078032 35080254 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 35078033 35080254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35080900 35097836 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 35080902 35097836 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35080902 35097836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35080902 35097836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35080902 35097836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35086001 35115000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 35095348 35146598 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr17 35097918 35138441 Amplification Adenocarcinoma FISH 19001599 NOT_FOUND chr17 35097918 35138441 Amplification Breast cancer aCGH 22152285 NOT_FOUND chr17 35097918 35138441 Amplification Breast cancer ddPCR 17661082 NOT_FOUND chr17 35097918 35138441 Amplification breast cancer FISH,chromogenic in situhybridization (CISH) 20459554 NOT_FOUND chr17 35097918 35138441 Amplification, loss Breast cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr17 35097918 35138441 Amplification, loss Ovarian cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr17 35097918 35138441 Amplification Non-small cell lung cancer FISH 19001599 NOT_FOUND chr17 35097918 35138441 Amplification Squamous cell cancer FISH 19001599 NOT_FOUND chr17 35097918 35138441 Copy number Breast cancer CISH 16864174 NOT_FOUND chr17 35097918 35138441 Copy number Breast cancer Fluorescence in situ hybridisation 16254685 NOT_FOUND chr17 35097918 35138441 Copy number Cholangiocarcinoma quantitative PCR 21472131 NOT_FOUND chr17 35097918 35138441 Copy number Esophageal cancer rtPCR 21481261 NOT_FOUND chr17 35097918 35138441 Copy number Syphilis Real-time PCR 21752804 NOT_FOUND chr17 35097918 35138441 Gain Breast cancer References 19490591 NOT_FOUND chr17 35097918 35138441 Gain Neuroendocrine carcinoma FISH 20385747 NOT_FOUND chr17 35097918 35138441 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 35097918 35138441 Gain or loss Cancer - 20668451 NOT_FOUND chr17 35097918 35138441 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 35097918 35138441 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 35097918 35138441 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 35097918 35138441 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 35097918 35138441 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 35097918 35138441 Increased Lung cancer fluorescent in situ hybridization 21424799 NOT_FOUND chr17 35097918 35138441 Increases Gastric cancer Fluorescence in situ hybridization (FISH) and immunohistochemistry 21689422 NOT_FOUND chr17 35097918 35138441 Indels Breast cancer FISH,Affymetrix 250K Nsp mapping arrays,Affymetrix GeneChip arrays v3.0 20803611 NOT_FOUND chr17 35099022 35099122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 35102118 35136335 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 NOT_FOUND chr17 35104766 35138441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35104766 35138441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35104913 35104945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 35109780 35138441 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35109920 35138436 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35109920 35138436 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr17 35115001 35117000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 35117001 35147000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 35128461 35152367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 35128703 35128803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 3512939 3518722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHPK chr17 3512939 3518722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHPK chr17 3512939 3518725 Gain and loss Pancreatic cancer SNP array 17952125 SHPK chr17 35137632 35863452 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,C17orf78,DUSP14,LHX1,MIR2909,TADA2A chr17 35137632 36006492 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,C17orf78,DDX52,DUSP14,LHX1,MIR2909,SYNRG,TADA2A chr17 35137632 36127619 LOH Normal High-resolution SNP genotyping 21211785 AATF,ACACA,C17orf78,DDX52,DUSP14,HNF1B,LHX1,MIR2909,SYNRG,TADA2A chr17 35138934 35140314 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 35138934 35140314 Gain or loss Cancer - 20668451 NOT_FOUND chr17 35138934 35140314 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 35138934 35140314 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 35138934 35140314 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 35138934 35140314 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 35138934 35140314 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 35138935 35140566 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35138937 35140314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35138937 35140314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35138941 35140342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35147001 35166500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 35147712 35157064 Copy number Gastric cancer Human cDNA microarrays 17229543 NOT_FOUND chr17 35147712 35157064 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 35147712 35157064 Gain or loss Cancer - 20668451 NOT_FOUND chr17 35147712 35157064 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 35147712 35157064 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 35147712 35157064 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 35147712 35157064 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 35147713 35157070 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35147713 35157070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35147713 35157070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35147744 35157063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35167001 35293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 35174724 35273967 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35174724 35273967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35174724 35273967 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 NOT_FOUND chr17 35174724 35273967 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 35174724 35273967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35174724 35273967 Gain or loss Cancer - 20668451 NOT_FOUND chr17 35174724 35273967 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 35174724 35273967 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 35174724 35273967 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 35174724 35273967 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 35174737 35273967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35185000 35230000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr17 3518839 3519711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHPK chr17 3518839 3519711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHPK chr17 3518858 3519707 Gain and loss Pancreatic cancer SNP array 17952125 SHPK chr17 35210228 35210328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 35210398 35210566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 3522497 3546332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNS,SHPK chr17 3522497 3546332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNS,SHPK chr17 3523273 3546332 Gain and loss Pancreatic cancer SNP array 17952125 CTNS,SHPK chr1 73524101 73528300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 35244501 35245500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 3524810 3569522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTNS,P2RX5-TAX1BP3,SHPK,TAX1BP3 chr17 35249148 35249303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 73526189 73526503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 35265737 35265844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 35265737 35265871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 35277981 35287668 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35277981 35287668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35277981 35287668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35277995 35287668 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35278849 36560627 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AATF,ACACA,C17orf78,DDX52,DUSP14,GPR179,HNF1B,LHX1,LOC284100,LOC440434,MIR2909,MRPL45,SOCS7,SYNRG,TADA2A,TBC1D3,TBC1D3F chr17 35293501 35799500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AATF,ACACA,C17orf78,LHX1,MIR2909,TADA2A chr17 35314374 35328429 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AATF chr17 35314374 35328429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AATF chr17 35314374 35328429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AATF chr17 35314376 35328369 Gain and loss Pancreatic cancer SNP array 17952125 AATF chr17 35329001 35519000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AATF,ACACA,MIR2909 chr17 35330822 35337380 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AATF chr17 35330822 35337380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AATF chr17 35330822 35337380 Gain and loss Pancreatic cancer SNP array 17952125 AATF chr17 35330822 35337380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AATF chr17 35353259 35354622 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AATF chr17 35353259 35354622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AATF chr17 35372752 35387545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AATF chr17 35372752 35387545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AATF chr17 35372752 35387545 Gain and loss Pancreatic cancer SNP array 17952125 AATF chr17 35372752 35387545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AATF chr17 35390586 35407738 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AATF,MIR2909 chr17 35390586 35407738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AATF,MIR2909 chr17 35390586 35407738 Gain and loss Pancreatic cancer SNP array 17952125 AATF,MIR2909 chr17 35390586 35407738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AATF,MIR2909 chr17 35400000 35600000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 AATF,ACACA chr17 35400000 35600000 Copy number HIV/AIDS References 21956041 AATF,ACACA chr17 35400000 35600000 Deletion Normal Refference 21823210 AATF,ACACA chr17 35400000 47600000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 AARSD1,AATF,ABI3,ACACA,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MPP2,MPP3,MRPL10,MRPL45,MRPL45P2,MSL1,MYL4,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,OSBPL7,PCGF2,PGAP3,PHB,PHOSPHO1,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL19,RPL23,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SKAP1,SLC25A39,SLC4A1,SMARCE1,SNF8,SNORA21,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SYNRG,TADA2A,TBC1D3,TBC1D3F,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF385C,ZNF652,ZPBP2 chr17 35400000 47600000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 AARSD1,AATF,ABI3,ACACA,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MPP2,MPP3,MRPL10,MRPL45,MRPL45P2,MSL1,MYL4,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,OSBPL7,PCGF2,PGAP3,PHB,PHOSPHO1,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL19,RPL23,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SKAP1,SLC25A39,SLC4A1,SMARCE1,SNF8,SNORA21,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SYNRG,TADA2A,TBC1D3,TBC1D3F,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF385C,ZNF652,ZPBP2 chr17 35400000 47600000 Gain Follicular lymphoma aCGH 20505157 AARSD1,AATF,ABI3,ACACA,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MPP2,MPP3,MRPL10,MRPL45,MRPL45P2,MSL1,MYL4,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,OSBPL7,PCGF2,PGAP3,PHB,PHOSPHO1,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL19,RPL23,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SKAP1,SLC25A39,SLC4A1,SMARCE1,SNF8,SNORA21,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SYNRG,TADA2A,TBC1D3,TBC1D3F,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF385C,ZNF652,ZPBP2 chr17 35400000 47600000 Gain Non-small cell lung cancer In situ minichips 20864512 AARSD1,AATF,ABI3,ACACA,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MPP2,MPP3,MRPL10,MRPL45,MRPL45P2,MSL1,MYL4,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,OSBPL7,PCGF2,PGAP3,PHB,PHOSPHO1,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL19,RPL23,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SKAP1,SLC25A39,SLC4A1,SMARCE1,SNF8,SNORA21,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SYNRG,TADA2A,TBC1D3,TBC1D3F,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF385C,ZNF652,ZPBP2 chr17 35400000 47600000 Loss Cancer array-based techniques 21183584 AARSD1,AATF,ABI3,ACACA,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MPP2,MPP3,MRPL10,MRPL45,MRPL45P2,MSL1,MYL4,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,OSBPL7,PCGF2,PGAP3,PHB,PHOSPHO1,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL19,RPL23,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SKAP1,SLC25A39,SLC4A1,SMARCE1,SNF8,SNORA21,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,SYNRG,TADA2A,TBC1D3,TBC1D3F,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF385C,ZNF652,ZPBP2 chr17 35400000 54900000 Amplification Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 AARSD1,AATF,ABCC3,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf112,C17orf53,C17orf65,C17orf67,C17orf69,C17orf78,C17orf96,C17orf98,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CHAD,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,COX11,CRHR1,CSF3,CWC25,DBF4B,DCAKD,DDX52,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ERBB2,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MIR5089,MLLT6,MLX,MMD,MPP2,MPP3,MRPL10,MRPL27,MRPL45,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PGAP3,PHB,PHOSPHO1,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPP1R1B,PPP1R9B,PPY,PRAC,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL19,RPL23,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORA21,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STXBP4,SYNRG,TAC4,TADA2A,TBC1D3,TBC1D3F,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652,ZPBP2 chr17 35400000 59900000 Copy number Breast cancer fast real-time PCR 20953835 AARSD1,AATF,ABCC3,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,AKAP1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APPBP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BCAS3,BECN1,BRCA1,BRIP1,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf112,C17orf47,C17orf53,C17orf64,C17orf65,C17orf67,C17orf69,C17orf78,C17orf82,C17orf96,C17orf98,C1QL1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,COX11,CRHR1,CSF3,CUEDC1,CWC25,DBF4B,DCAKD,DDX52,DGKE,DHX40,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,DYNLL2,EFCAB13,EFTUD2,EIF1,EME1,EPN3,EPX,ERBB2,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GDPD1,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEATR6,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LOC645638,LOC653653,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4734,MIR4736,MIR4737,MIR5010,MIR5089,MKS1,MLLT6,MLX,MMD,MPO,MPP2,MPP3,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,NACA2,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PGAP3,PHB,PHOSPHO1,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRR11,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RNF126P1,RNF43,RNFT1,RPL19,RPL23,RPL27,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCARNA20,SCPEP1,SCRN2,SEPT4,SGCA,SKA2,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SMG8,SNF8,SNORA21,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STXBP4,SUPT4H1,SYNRG,TAC4,TADA2A,TBC1D3,TBC1D3F,TBC1D3P1-DHX40P1,TBKBP1,TBX2,TBX21,TBX4,TCAP,TEX14,TEX34,THRA,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TTC25,TTLL6,TUBD1,TUBG1,TUBG2,UBE2Z,UBTF,USP32,UTP18,VAT1,VEZF1,VMP1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZNF385C,ZNF652,ZPBP2 chr17 35400000 68400000 Gain Thyroid cancer FISH 19087340 AARSD1,AATF,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACACA,ACBD4,ACE,ACLY,ACSF2,ADAM11,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARSG,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BPTF,BRCA1,BRIP1,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf112,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf78,C17orf82,C17orf96,C17orf98,C1QL1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCDC47,CCR10,CCR7,CD300LG,CD79B,CDC27,CDC6,CDK12,CDK5RAP3,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,COX11,CRHR1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHX40,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EME1,EPN3,EPX,ERBB2,ERN1,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FTSJ3,FZD2,G6PC,G6PC3,GAST,GDPD1,GFAP,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KIF18B,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LIMD2,LINC00671,LINC00672,LINC00674,LOC100130581,LOC100131347,LOC100505782,LOC146880,LOC147093,LOC284080,LOC284100,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL2A,MGC57346,MIEN1,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4734,MIR4736,MIR4737,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MKS1,MLLT6,MLX,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,NACA2,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PECAM1,PGAP3,PHB,PHOSPHO1,PIP4K2B,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRKAR1A,PRKCA,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RGS9,RND2,RNF126P1,RNF43,RNFT1,RPL19,RPL23,RPL27,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCARNA20,SCN4A,SCPEP1,SCRN2,SEPT4,SGCA,SKA2,SKAP1,SLC16A6,SLC25A39,SLC35B1,SLC4A1,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUPT4H1,SYNRG,TAC4,TACO1,TADA2A,TANC2,TBC1D3,TBC1D3F,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEX14,TEX2,TEX34,THRA,TLK2,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TTC25,TTLL6,TUBD1,TUBG1,TUBG2,UBE2Z,UBTF,USP32,UTP18,VAT1,VEZF1,VMP1,VPS25,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZNF385C,ZNF652,ZPBP2 chr1 73541372 73541722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 73541916 73542016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 35425140 35427592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 35425140 35427592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35425140 35427592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 35425214 35427592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 35425441 35425489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 35428876 35464415 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35428876 35464415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35428876 35464415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35428877 35464175 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35446909 35447009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACACA chr17 35456687 35456787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACACA chr17 35472678 35503644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35472678 35503644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35472678 35503644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35472686 35503644 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35492459 35492531 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35492459 35492531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35502567 35510499 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35502567 35510499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35502567 35510499 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35502567 35510499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35502726 36061262 LOH Normal High-resolution SNP genotyping 21211785 ACACA,C17orf78,DDX52,DUSP14,HNF1B,SYNRG,TADA2A chr17 3551641 3551720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNS chr17 35527079 35527152 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35527079 35527152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35531743 35546566 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35532315 35546568 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ACACA chr17 35532392 35540072 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35532393 35546566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35542587 59512051 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AARSD1,ABCC3,ABI3,ACACA,ACBD4,ACLY,ACSF2,ADAM11,AKAP1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APPBP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BCAS3,BECN1,BRCA1,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf112,C17orf47,C17orf53,C17orf64,C17orf65,C17orf67,C17orf69,C17orf78,C17orf82,C17orf96,C17orf98,C1QL1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK12,CDK5RAP3,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,COX11,CRHR1,CSF3,CUEDC1,CWC25,DBF4B,DCAKD,DDX52,DGKE,DHX40,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP14,DUSP3,DYNLL2,EFCAB13,EFTUD2,EIF1,EME1,EPN3,EPX,ERBB2,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FBXL20,FBXO47,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GDPD1,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GPR179,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEATR6,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284080,LOC284100,LOC440434,LOC644172,LOC645638,LOC653653,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4734,MIR4736,MIR4737,MIR5010,MIR5089,MKS1,MLLT6,MLX,MMD,MPO,MPP2,MPP3,MRPL10,MRPL27,MRPL45,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,PCGF2,PCTP,PDK2,PGAP3,PHB,PHOSPHO1,PIP4K2B,PLCD3,PLEKHH3,PLEKHM1,PLXDC1,PNMT,PNPO,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRR11,PRR15L,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RNF126P1,RNF43,RNFT1,RPL19,RPL23,RPL27,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCARNA20,SCPEP1,SCRN2,SEPT4,SGCA,SKA2,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SMG8,SNF8,SNORA21,SNORD124,SNX11,SOCS7,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRCIN1,SRSF1,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STXBP4,SUPT4H1,SYNRG,TAC4,TADA2A,TBC1D3,TBC1D3F,TBC1D3P1-DHX40P1,TBKBP1,TBX2,TBX21,TCAP,TEX14,TEX34,THRA,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TTC25,TTLL6,TUBD1,TUBG1,TUBG2,UBE2Z,UBTF,USP32,UTP18,VAT1,VEZF1,VMP1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZNF385C,ZNF652,ZPBP2 chr17 35550033 35581957 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35550033 35581957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35550033 35581957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35550110 35581950 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 3555271 3565280 Indels Normal Affymetrix and Illumina arrays 20811451 CTNS chr17 35559915 35560001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35586501 35605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACACA chr17 35588133 35605426 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35588133 35605426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35588133 35605426 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35588133 35605426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35600000 35700000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ACACA chr17 35600000 37800000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ACACA,ARHGAP23,ARL5C,C17orf78,C17orf96,C17orf98,CACNB1,CDK12,CISD3,CWC25,DDX52,DUSP14,FBXL20,FBXO47,GPR179,HNF1B,LASP1,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,MED1,MIR4726,MIR4727,MIR4734,MLLT6,MRPL45,NEUROD2,PCGF2,PIP4K2B,PLXDC1,PPP1R1B,PSMB3,RPL19,RPL23,SNORA21,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TBC1D3,TBC1D3F chr17 35600000 37800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACACA,ARHGAP23,ARL5C,C17orf78,C17orf96,C17orf98,CACNB1,CDK12,CISD3,CWC25,DDX52,DUSP14,FBXL20,FBXO47,GPR179,HNF1B,LASP1,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,MED1,MIR4726,MIR4727,MIR4734,MLLT6,MRPL45,NEUROD2,PCGF2,PIP4K2B,PLXDC1,PPP1R1B,PSMB3,RPL19,RPL23,SNORA21,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TBC1D3,TBC1D3F chr17 35600000 37800000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACACA,ARHGAP23,ARL5C,C17orf78,C17orf96,C17orf98,CACNB1,CDK12,CISD3,CWC25,DDX52,DUSP14,FBXL20,FBXO47,GPR179,HNF1B,LASP1,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,MED1,MIR4726,MIR4727,MIR4734,MLLT6,MRPL45,NEUROD2,PCGF2,PIP4K2B,PLXDC1,PPP1R1B,PSMB3,RPL19,RPL23,SNORA21,SOCS7,SRCIN1,STAC2,STARD3,SYNRG,TADA2A,TBC1D3,TBC1D3F chr17 35600000 41900000 Gain Gastrointestinal stromal cancer array CGH 16982739 AARSD1,ACACA,ACLY,AOC2,AOC3,AOC4,ARHGAP23,ARL4D,ARL5C,ATP6V0A1,BECN1,BRCA1,C17orf105,C17orf78,C17orf96,C17orf98,CACNB1,CASC3,CCR10,CCR7,CDC6,CDK12,CISD3,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,CWC25,DDX52,DHX58,DHX8,DNAJC7,DUSP14,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FBXL20,FBXO47,FKBP10,G6PC,GAST,GHDC,GJD3,GPR179,GRB7,GSDMA,GSDMB,HAP1,HCRT,HNF1B,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LINC00671,LINC00672,LOC100130581,LOC100131347,LOC100505782,LOC147093,LOC284100,LOC440434,LRRC37A11P,LRRC3C,MED1,MED24,MEOX1,MIEN1,MIR2117,MIR4726,MIR4727,MIR4728,MIR4734,MIR5010,MLLT6,MLX,MPP3,MRPL45,MSL1,NAGLU,NBR1,NBR2,NEUROD2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PCGF2,PGAP3,PIP4K2B,PLEKHH3,PLXDC1,PNMT,PPP1R1B,PSMB3,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL19,RPL23,RPL27,RUNDC1,SMARCE1,SNORA21,SNORD124,SOCS7,SOST,SRCIN1,STAC2,STARD3,STAT3,STAT5A,STAT5B,SYNRG,TADA2A,TBC1D3,TBC1D3F,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 35600000 78774742 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACACA,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP23,ARHGAP27,ARL17A,ARL17B,ARL4D,ARL5C,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf78,C17orf80,C17orf82,C17orf96,C17orf98,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNB1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCR10,CCR7,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK12,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CISD3,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CWC25,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DDX52,DGKE,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DUSP14,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERBB2,ERN1,ETV4,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBF1,FBXL20,FBXO47,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAST,GDPD1,GFAP,GGA3,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPR179,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HNF1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LASP1,LEPREL4,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00672,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100131347,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC284100,LOC400620,LOC440434,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A11P,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4726,MIR4727,MIR4728,MIR4729,MIR4730,MIR4734,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MLLT6,MLX,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NEUROD2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCGF2,PCTP,PDK2,PECAM1,PGAP3,PGS1,PHB,PHOSPHO1,PIP4K2B,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PLXDC1,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R1B,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMB3,PSMC3IP,PSMC5,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,QRICH2,RAB37,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL19,RPL23,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA21,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOCS7,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRCIN1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,SYNRG,TAC4,TACO1,TADA2A,TANC2,TBC1D16,TBC1D3,TBC1D3F,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMEM99,TMUB2,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF385C,ZNF652,ZPBP2 chr1 73562153 73569411 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr17 35629100 35691965 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35629100 35691965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35629100 35691965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35629163 35689627 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 3564672 3651286 Gain and loss Pancreatic cancer SNP array 17952125 CTNS,EMC6,GSG2,ITGAE,P2RX5,P2RX5-TAX1BP3,TAX1BP3 chr17 3564672 3651293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNS,EMC6,GSG2,ITGAE,P2RX5,P2RX5-TAX1BP3,TAX1BP3 chr17 3564672 3651293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNS,EMC6,GSG2,ITGAE,P2RX5,P2RX5-TAX1BP3,TAX1BP3 chr17 35653001 35653094 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35653001 35653095 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35653001 35653097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35697671 35712939 Copy number Gastric cancer Human cDNA microarrays 17229543 ACACA chr17 35697671 35712939 Gain or loss Breast cancer - 20668451 ACACA chr17 35697671 35712939 Gain or loss Cancer - 20668451 ACACA chr17 35697671 35712939 Gain or loss Lung cancer - 20668451 ACACA chr17 35697671 35712939 Gain or loss Ovarian cancer - 20668451 ACACA chr17 35697671 35712939 Gain or loss Pancreas cancer - 20668451 ACACA chr17 35697671 35712939 Gain or loss Prostate cancer - 20668451 ACACA chr17 35697672 35712939 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35697672 35712939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35697672 35712939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA chr17 35697693 35712744 Gain and loss Pancreatic cancer SNP array 17952125 ACACA chr17 35718501 35724000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACACA chr17 35718971 35820467 Gain or loss Breast cancer - 20668451 ACACA,C17orf78,TADA2A chr17 35718971 35820467 Gain or loss Cancer - 20668451 ACACA,C17orf78,TADA2A chr17 35718971 35820467 Gain or loss Lung cancer - 20668451 ACACA,C17orf78,TADA2A chr17 35718971 35820467 Gain or loss Ovarian cancer - 20668451 ACACA,C17orf78,TADA2A chr17 35718971 35820467 Gain or loss Pancreas cancer - 20668451 ACACA,C17orf78,TADA2A chr17 35718971 35820467 Gain or loss Prostate cancer - 20668451 ACACA,C17orf78,TADA2A chr17 35718972 35767420 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA,C17orf78,TADA2A chr17 35718972 35767420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACACA,C17orf78,TADA2A chr17 35718972 35767420 Gain and loss Pancreatic cancer SNP array 17952125 ACACA,C17orf78,TADA2A chr17 35718972 35767420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACACA,C17orf78,TADA2A chr17 35724001 35777500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACACA,C17orf78,TADA2A chr17 3573946 3576734 Gain and loss Pancreatic cancer SNP array 17952125 P2RX5,P2RX5-TAX1BP3 chr17 3573946 3576742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P2RX5,P2RX5-TAX1BP3 chr17 3573946 3576742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RX5,P2RX5-TAX1BP3 chr17 35759010 35759408 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACACA chr17 35770761 35773593 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TADA2A chr17 35770761 35773593 Gain and loss Pancreatic cancer SNP array 17952125 TADA2A chr17 35770761 35773593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TADA2A chr1 73577300 74474239 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr17 35777729 35778219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TADA2A chr17 35798321 35827695 Copy number Breast cancer CISH 16864174 TADA2A chr17 35798321 35827934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TADA2A chr17 35798321 35827934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TADA2A chr17 35798321 35827934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TADA2A chr17 35798327 35827695 Gain and loss Pancreatic cancer SNP array 17952125 TADA2A chr17 35801010 35801116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TADA2A chr17 35801012 35801116 Gain and loss Pancreatic cancer SNP array 17952125 TADA2A chr17 35827001 35979500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX52,DUSP14,SYNRG,TADA2A chr17 35838350 36560627 Copy number gain Normal High-resolution SNP genotyping 21211785 DDX52,DUSP14,GPR179,HNF1B,LOC284100,LOC440434,MRPL45,SOCS7,SYNRG,TBC1D3,TBC1D3F chr17 35853201 35867508 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DUSP14 chr17 35853201 35867508 Gain or loss Breast cancer - 20668451 DUSP14 chr17 35853201 35867508 Gain or loss Cancer - 20668451 DUSP14 chr17 35853201 35867508 Gain or loss Lung cancer - 20668451 DUSP14 chr17 35853201 35867508 Gain or loss Ovarian cancer - 20668451 DUSP14 chr17 35853201 35867508 Gain or loss Pancreas cancer - 20668451 DUSP14 chr17 35853201 35867508 Gain or loss Prostate cancer - 20668451 DUSP14 chr17 35853202 35867507 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DUSP14 chr17 35853202 35867507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP14 chr17 35853202 35867507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP14 chr17 35853392 35867502 Gain and loss Pancreatic cancer SNP array 17952125 DUSP14 chr17 35869792 35869995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUSP14 chr17 35885606 35911375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SYNRG chr17 35885606 35911380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNRG chr17 35885606 35911380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNRG chr17 35885626 35911341 Gain and loss Pancreatic cancer SNP array 17952125 SYNRG chr17 3595073 3627673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GSG2,ITGAE,P2RX5,P2RX5-TAX1BP3 chr17 35963547 35975250 Gain or loss Breast cancer - 20668451 DDX52,SYNRG chr17 35963547 35975250 Gain or loss Cancer - 20668451 DDX52,SYNRG chr17 35963547 35975250 Gain or loss Lung cancer - 20668451 DDX52,SYNRG chr17 35963547 35975250 Gain or loss Ovarian cancer - 20668451 DDX52,SYNRG chr17 35963547 35975250 Gain or loss Pancreas cancer - 20668451 DDX52,SYNRG chr17 35963547 35975250 Gain or loss Prostate cancer - 20668451 DDX52,SYNRG chr17 35963550 35975250 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DDX52,SYNRG chr17 35963550 35975250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX52,SYNRG chr17 35963550 35975250 Gain and loss Pancreatic cancer SNP array 17952125 DDX52,SYNRG chr17 35963550 35975250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX52,SYNRG chr17 35991941 36017353 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 DDX52 chr17 36000000 37600000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ARHGAP23,ARL5C,C17orf96,C17orf98,CACNB1,CISD3,CWC25,DDX52,FBXL20,FBXO47,GPR179,HNF1B,LASP1,LINC00672,LOC100131347,LOC284100,LOC440434,LRRC37A11P,MED1,MIR4726,MIR4727,MIR4734,MLLT6,MRPL45,PCGF2,PIP4K2B,PLXDC1,PSMB3,RPL19,RPL23,SNORA21,SOCS7,SRCIN1,STAC2,TBC1D3,TBC1D3F chr17 3600000 11200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ATP1B2,ATP2A3,AURKB,BCL6B,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,ENO3,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GGT6,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,INCA1,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,MFSD6L,MINK1,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,ODF4,P2RX1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNM3,PLD2,PLSCR3,POLR2A,PSMB6,RABEP1,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RPAIN,RPL26,RPL29P2,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC52A1,SMTNL2,SNORA48,SNORA67,SNORD10,SOX15,SPAG7,SPDYE4,SPEM1,SPNS2,SPNS3,STX8,TEKT1,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3600000 11200000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ATP1B2,ATP2A3,AURKB,BCL6B,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,ENO3,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GGT6,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,INCA1,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MED11,MED31,MFSD6L,MINK1,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,ODF4,P2RX1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNM3,PLD2,PLSCR3,POLR2A,PSMB6,RABEP1,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RPAIN,RPL26,RPL29P2,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC52A1,SMTNL2,SNORA48,SNORA67,SNORD10,SOX15,SPAG7,SPDYE4,SPEM1,SPNS2,SPNS3,STX8,TEKT1,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3600000 22100000 Deletion Medulloblastoma SNP arrays 21979893 ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CTC1,CTDNEP1,CXCL16,CYB5D1,CYB5D2,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GGT6,GID4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HS3ST3A1,HS3ST3B1,INCA1,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1288,MIR195,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,ODF4,P2RX1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RASD1,RCVRN,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RPAIN,RPL26,RPL29P2,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SHMT1,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMTNL2,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SOX15,SPAG7,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,STX8,TBC1D26,TBC1D28,TEKT1,TEKT3,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV2,TTC19,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 3600000 6800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIPL1,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ATP2A3,C17orf100,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CXCL16,CYB5D2,DERL2,DHX33,ENO3,FAM64A,FBXO39,GGT6,GLTPD2,GP1BA,GSG2,INCA1,ITGAE,KIAA0753,KIF1C,LOC100130950,LOC339166,LOC728392,MED11,MED31,MINK1,MIR4520A,MIR4520B,MIS12,MYBBP1A,NLRP1,NUP88,P2RX1,PELP1,PFN1,PITPNM3,PLD2,PSMB6,RABEP1,RNF167,RPAIN,SCIMP,SLC13A5,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPNS2,SPNS3,TEKT1,TM4SF5,TXNDC17,UBE2G1,USP6,VMO1,WSCD1,XAF1,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3600000 6800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIPL1,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ATP2A3,C17orf100,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CXCL16,CYB5D2,DERL2,DHX33,ENO3,FAM64A,FBXO39,GGT6,GLTPD2,GP1BA,GSG2,INCA1,ITGAE,KIAA0753,KIF1C,LOC100130950,LOC339166,LOC728392,MED11,MED31,MINK1,MIR4520A,MIR4520B,MIS12,MYBBP1A,NLRP1,NUP88,P2RX1,PELP1,PFN1,PITPNM3,PLD2,PSMB6,RABEP1,RNF167,RPAIN,SCIMP,SLC13A5,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPNS2,SPNS3,TEKT1,TM4SF5,TXNDC17,UBE2G1,USP6,VMO1,WSCD1,XAF1,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3600000 6800000 Loss Diffuse large b-cell lymphoma QMPSF assay 18287131 AIPL1,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ATP2A3,C17orf100,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CXCL16,CYB5D2,DERL2,DHX33,ENO3,FAM64A,FBXO39,GGT6,GLTPD2,GP1BA,GSG2,INCA1,ITGAE,KIAA0753,KIF1C,LOC100130950,LOC339166,LOC728392,MED11,MED31,MINK1,MIR4520A,MIR4520B,MIS12,MYBBP1A,NLRP1,NUP88,P2RX1,PELP1,PFN1,PITPNM3,PLD2,PSMB6,RABEP1,RNF167,RPAIN,SCIMP,SLC13A5,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPNS2,SPNS3,TEKT1,TM4SF5,TXNDC17,UBE2G1,USP6,VMO1,WSCD1,XAF1,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3600000 6800000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 AIPL1,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ATP2A3,C17orf100,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CXCL16,CYB5D2,DERL2,DHX33,ENO3,FAM64A,FBXO39,GGT6,GLTPD2,GP1BA,GSG2,INCA1,ITGAE,KIAA0753,KIF1C,LOC100130950,LOC339166,LOC728392,MED11,MED31,MINK1,MIR4520A,MIR4520B,MIS12,MYBBP1A,NLRP1,NUP88,P2RX1,PELP1,PFN1,PITPNM3,PLD2,PSMB6,RABEP1,RNF167,RPAIN,SCIMP,SLC13A5,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPNS2,SPNS3,TEKT1,TM4SF5,TXNDC17,UBE2G1,USP6,VMO1,WSCD1,XAF1,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 3600000 6800000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 AIPL1,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ATP2A3,C17orf100,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CXCL16,CYB5D2,DERL2,DHX33,ENO3,FAM64A,FBXO39,GGT6,GLTPD2,GP1BA,GSG2,INCA1,ITGAE,KIAA0753,KIF1C,LOC100130950,LOC339166,LOC728392,MED11,MED31,MINK1,MIR4520A,MIR4520B,MIS12,MYBBP1A,NLRP1,NUP88,P2RX1,PELP1,PFN1,PITPNM3,PLD2,PSMB6,RABEP1,RNF167,RPAIN,SCIMP,SLC13A5,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPNS2,SPNS3,TEKT1,TM4SF5,TXNDC17,UBE2G1,USP6,VMO1,WSCD1,XAF1,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 36001826 36103630 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX52,HNF1B chr17 36018896 36019097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36018896 36019097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36020657 36020831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 36036461 36036828 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36036461 36036828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36037498 36058286 Gain and loss Pancreatic cancer SNP array 17952125 HNF1B chr17 36037511 36057629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNF1B chr17 36037511 36057629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNF1B chr17 36037511 36058286 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HNF1B chr17 36038575 36074934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HNF1B chr17 36038575 36074934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNF1B chr17 36038575 36074934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNF1B chr17 36049469 36104550 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HNF1B chr17 36066047 36074900 Gain and loss Pancreatic cancer SNP array 17952125 HNF1B chr17 36073767 36964372 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP23,C17orf96,CISD3,CWC25,GPR179,HNF1B,LOC284100,LOC440434,MIR4726,MIR4734,MLLT6,MRPL45,PCGF2,PIP4K2B,PSMB3,SOCS7,SRCIN1,TBC1D3,TBC1D3F chr17 36073767 36964372 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP23,C17orf96,CISD3,CWC25,GPR179,HNF1B,LOC284100,LOC440434,MIR4726,MIR4734,MLLT6,MRPL45,PCGF2,PIP4K2B,PSMB3,SOCS7,SRCIN1,TBC1D3,TBC1D3F chr17 36082653 36315655 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 HNF1B,LOC284100,TBC1D3,TBC1D3F chr17 36096816 36099138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNF1B chr17 36101823 36101923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HNF1B chr17 36107771 36113528 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36107771 36113528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36107771 36113528 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36107771 36113528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36109939 36230163 Amplification Gastric cancer array CGH 21635755 LOC284100 chr17 36157798 36165110 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36157798 36165110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36157798 36165110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36157800 36181937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36176018 36181937 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36176018 36181937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36176018 36181937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36185478 37055591 LOH Normal High-resolution SNP genotyping 21211785 ARHGAP23,C17orf96,C17orf98,CISD3,CWC25,GPR179,LASP1,LOC284100,LOC440434,MIR4726,MIR4727,MIR4734,MLLT6,MRPL45,PCGF2,PIP4K2B,PSMB3,RPL23,SNORA21,SOCS7,SRCIN1,TBC1D3,TBC1D3F chr17 36186586 36192312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36186586 36192312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36186587 36192312 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36186587 36192312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36201974 36209737 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC284100 chr17 36201974 36209737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284100 chr17 36201974 36209737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284100 chr17 36201981 36209737 Gain and loss Pancreatic cancer SNP array 17952125 LOC284100 chr17 36227896 36232373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC284100 chr17 36227896 36232373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284100 chr17 36227896 36232373 Gain and loss Pancreatic cancer SNP array 17952125 LOC284100 chr17 36227896 36232373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284100 chr17 36228900 36246052 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC284100 chr17 36228900 36246052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284100 chr17 36228900 36246052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284100 chr17 36228921 36244862 Gain and loss Pancreatic cancer SNP array 17952125 LOC284100 chr17 36270956 36276988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36270956 36276988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36271081 36276988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36285721 36295005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3,TBC1D3F chr17 36285721 36295005 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D3,TBC1D3F chr17 36285721 36295005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3,TBC1D3F chr1 73630384 73630484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 3632698 4966698 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ALOX15,ANKFY1,ARRB2,ATP2A3,C17orf107,C17orf85,CAMKK1,CAMTA2,CHRNE,CXCL16,CYB5D2,ENO3,GGT6,GLTPD2,GP1BA,INCA1,ITGAE,KIF1C,MED11,MINK1,MYBBP1A,P2RX1,PELP1,PFN1,PLD2,PSMB6,RNF167,SLC25A11,SLC52A1,SMTNL2,SPAG7,SPNS2,SPNS3,TM4SF5,UBE2G1,VMO1,ZMYND15,ZZEF1 chr17 36332478 36347362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3,TBC1D3F chr17 36332478 36347362 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D3,TBC1D3F chr17 36332478 36347362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3,TBC1D3F chr17 36342156 37010452 LOH Normal High-resolution SNP genotyping 21211785 ARHGAP23,C17orf96,C17orf98,CISD3,CWC25,GPR179,LOC440434,MIR4726,MIR4727,MIR4734,MLLT6,MRPL45,PCGF2,PIP4K2B,PSMB3,RPL23,SNORA21,SOCS7,SRCIN1,TBC1D3,TBC1D3F chr17 36368195 36376670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440434 chr17 36368195 36376670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440434 chr17 36368379 36376634 Gain and loss Pancreatic cancer SNP array 17952125 LOC440434 chr17 36387494 36396152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440434 chr17 36403208 36403911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440434 chr17 36403579 36403875 Gain and loss Pancreatic cancer SNP array 17952125 LOC440434 chr17 36408971 36409672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440434 chr17 36408971 36409672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440434 chr17 36409335 36409631 Gain and loss Pancreatic cancer SNP array 17952125 LOC440434 chr17 36414259 36414538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36418299 36418892 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36418299 36418892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36418556 36418852 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36436409 36436933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36443662 36444633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36443662 36444633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36444864 36507015 Copy number loss Normal High-resolution SNP genotyping 21211785 GPR179,MRPL45 chr17 36450337 36451239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36450337 36451239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36450642 36451175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36456319 36457094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL45 chr17 36456319 36457094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL45 chr17 36457239 36475133 Loss Normal Birdsuite, version 1.5.2 22087296 MRPL45 chr17 36464276 36465008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL45 chr17 36464276 36465008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL45 chr17 36469018 36469892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL45 chr17 36469442 36469828 Gain and loss Pancreatic cancer SNP array 17952125 MRPL45 chr17 36474894 36475657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL45 chr17 36474894 36475657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL45 chr17 36481724 36482119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR179 chr17 36487073 36487107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR179 chr17 36488747 38350779 LOH Normal High-resolution SNP genotyping 21211785 ARHGAP23,ARL5C,C17orf96,C17orf98,CACNB1,CASC3,CDK12,CISD3,CSF3,CWC25,ERBB2,FBXL20,FBXO47,GPR179,GRB7,GSDMA,GSDMB,IKZF3,LASP1,LINC00672,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MSL1,NEUROD2,NR1D1,ORMDL3,PCGF2,PGAP3,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,PSMD3,RAPGEFL1,RPL19,RPL23,SNORA21,SNORD124,SOCS7,SRCIN1,STAC2,STARD3,TCAP,THRA,ZPBP2 chr17 36491277 36512447 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 GPR179,SOCS7 chr17 36491683 36491783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR179 chr17 36493928 36494510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR179 chr17 36493985 36494323 Gain and loss Pancreatic cancer SNP array 17952125 GPR179 chr17 36494308 36494308 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GPR179 chr17 36502991 36523280 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 SOCS7 chr17 365056 564846 Gain and loss Pancreatic cancer SNP array 17952125 VPS53 chr17 36506759 36507919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36510770 36528661 Loss Normal Birdsuite, version 1.5.2 22087296 SOCS7 chr17 36515110 36516266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOCS7 chr17 3652001 3656000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITGAE chr17 36526959 36528138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOCS7 chr17 36526959 36528138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOCS7 chr17 36532314 36544684 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SOCS7 chr17 36532869 36533945 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOCS7 chr17 36532869 36533945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOCS7 chr17 36532869 36533945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOCS7 chr17 36534739 36686457 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ARHGAP23,SOCS7,SRCIN1 chr17 36549211 36550265 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOCS7 chr17 36549211 36550265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOCS7 chr17 36554901 37123136 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGAP23,C17orf96,C17orf98,CISD3,CWC25,FBXO47,LASP1,LINC00672,MIR4726,MIR4727,MIR4734,MLLT6,PCGF2,PIP4K2B,PSMB3,RPL23,SNORA21,SOCS7,SRCIN1 chr17 36558702 36559580 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOCS7 chr17 36558702 36559580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOCS7 chr17 36558702 36559580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOCS7 chr17 36559000 36559545 Gain and loss Pancreatic cancer SNP array 17952125 SOCS7 chr17 36560000 39170000 Gain Breast cancer aCGH 21509527 ARHGAP23,ARL5C,C17orf96,C17orf98,CACNB1,CASC3,CCR7,CDC6,CDK12,CISD3,CSF3,CWC25,ERBB2,FBXL20,FBXO47,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT10,KRT12,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT39,KRT40,KRTAP3-1,KRTAP3-2,KRTAP3-3,LASP1,LINC00672,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MSL1,NEUROD2,NR1D1,ORMDL3,PCGF2,PGAP3,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,PSMD3,RAPGEFL1,RARA,RPL19,RPL23,SMARCE1,SNORA21,SNORD124,SOCS7,SRCIN1,STAC2,STARD3,TCAP,THRA,TMEM99,TNS4,TOP2A,WIPF2,ZPBP2 chr17 36560627 37113477 LOH Normal High-resolution SNP genotyping 21211785 ARHGAP23,C17orf96,C17orf98,CISD3,CWC25,FBXO47,LASP1,LINC00672,MIR4726,MIR4727,MIR4734,MLLT6,PCGF2,PIP4K2B,PSMB3,RPL23,SNORA21,SOCS7,SRCIN1 chr17 36560627 37137604 LOH Normal High-resolution SNP genotyping 21211785 ARHGAP23,C17orf96,C17orf98,CISD3,CWC25,FBXO47,LASP1,LINC00672,MIR4726,MIR4727,MIR4734,MLLT6,PCGF2,PIP4K2B,PSMB3,RPL23,SNORA21,SOCS7,SRCIN1 chr17 36560627 39005051 LOH Normal High-resolution SNP genotyping 21211785 ARHGAP23,ARL5C,C17orf96,C17orf98,CACNB1,CASC3,CCR7,CDC6,CDK12,CISD3,CSF3,CWC25,ERBB2,FBXL20,FBXO47,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT10,KRT222,KRT24,KRT25,KRT26,KRT27,KRT28,LASP1,LINC00672,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4726,MIR4727,MIR4728,MIR4734,MLLT6,MSL1,NEUROD2,NR1D1,ORMDL3,PCGF2,PGAP3,PIP4K2B,PLXDC1,PNMT,PPP1R1B,PSMB3,PSMD3,RAPGEFL1,RARA,RPL19,RPL23,SMARCE1,SNORA21,SNORD124,SOCS7,SRCIN1,STAC2,STARD3,TCAP,THRA,TMEM99,TNS4,TOP2A,WIPF2,ZPBP2 chr17 36569431 36570509 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36569431 36570509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36569431 36570509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36569654 36569743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 36569969 36570469 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36577009 36577972 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36577009 36577972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36577009 36577972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36577363 36577659 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36587224 36587986 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP23 chr17 36587224 36587986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36587224 36587986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36587532 36587942 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP23 chr17 36593880 36595120 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP23 chr17 36593880 36595120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36593880 36595120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36594192 36594632 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP23 chr17 36596722 36596914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36598223 36600417 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP23 chr17 36598223 36600417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36599815 36600417 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP23 chr17 3661208 3696289 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ITGAE chr17 3661571 3696266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGAE chr17 3661571 3696266 Gain and loss Pancreatic cancer SNP array 17952125 ITGAE chr17 3661571 3696266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGAE chr17 36622484 36623015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36636267 36653666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP23 chr17 36636426 36637429 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP23 chr17 36636426 36637429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36636477 36649035 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 ARHGAP23 chr17 36637937 36643557 Loss Normal 244K array 17666407 ARHGAP23 chr17 36638350 36649970 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ARHGAP23 chr17 36638350 36649970 Total allelic loss Normal High-resolution SNP genotyping 21211785 ARHGAP23 chr17 36641086 36647295 Loss Normal Birdsuite, version 1.5.2 22087296 ARHGAP23 chr17 36642241 36643231 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP23 chr17 36642241 36643231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36642241 36643231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36642280 36642759 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP23 chr17 36643136 36657760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP23 chr17 36647823 36648782 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP23 chr17 36647823 36648782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36647823 36648782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36655799 37242724 Deletion Glioblastoma multiforme 244K oligo array 21138945 ARHGAP23,C17orf96,C17orf98,CISD3,CWC25,FBXO47,LASP1,LINC00672,LOC100131347,LRRC37A11P,MIR4726,MIR4727,MIR4734,MLLT6,PCGF2,PIP4K2B,PLXDC1,PSMB3,RPL23,SNORA21,SRCIN1 chr17 36658795 36684045 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP23 chr17 36659465 36660430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36659465 36660430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36659465 36665673 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP23 chr17 36659465 36666142 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP23 chr17 36660867 36684045 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP23 chr17 36661507 36684045 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP23 chr17 36665162 36666142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36665162 36666142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP23 chr17 36666924 36684045 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP23 chr17 36666936 36671898 Loss Normal Birdsuite, version 1.5.2 22087296 ARHGAP23 chr17 36667005 36686818 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP23,SRCIN1 chr17 36668161 36684045 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARHGAP23 chr17 36669019 36686864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRCIN1 chr17 36669037 36686198 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 36670187 36686354 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRCIN1 chr17 36671076 36686808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRCIN1 chr17 36671886 36683964 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 36671886 36684045 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 36671898 36675211 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 36672430 36691010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRCIN1 chr17 36673803 36710534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRCIN1 chr17 36674744 36686537 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SRCIN1 chr17 36674744 36686537 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 SRCIN1 chr17 36675001 36686000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 36675117 36676419 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36675117 36676419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36675211 36676539 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 36675211 36684057 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 36675223 36686758 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 SRCIN1 chr17 36675647 36685241 Gain Normal 244K array 17666407 NOT_FOUND chr17 36675787 36684819 Copy number Incontinentia Pigmenti Agilent SurePrint G15 one Million microarrays 22033527 NOT_FOUND chr17 36676528 36684045 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 36676539 36676540 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 36676540 36684057 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 36676540 36684057 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 36676540 36686250 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 36678253 36687600 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 SRCIN1 chr17 36681089 36681613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36681469 36685840 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr17 36684057 36686366 Loss Normal Birdsuite, version 1.5.2 22087296 SRCIN1 chr17 36685437 36686475 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRCIN1 chr17 36685437 36686475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36686366 36686792 Loss Normal Birdsuite, version 1.5.2 22087296 SRCIN1 chr17 36689379 36689464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRCIN1 chr17 36690382 36690588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36692737 36692790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRCIN1 chr17 36698520 36698632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SRCIN1 chr17 36711604 36712629 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRCIN1 chr17 36711604 36712629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36714595 36714666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRCIN1 chr17 36717478 36719031 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRCIN1 chr17 36717478 36719031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36724695 36725473 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRCIN1 chr17 36724695 36725473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36724695 36725473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36725111 36725428 Gain and loss Pancreatic cancer SNP array 17952125 SRCIN1 chr17 36730869 36730969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRCIN1 chr17 36733001 36739500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SRCIN1 chr17 36733205 36739323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36739501 36894000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf96,CISD3,MIR4726,MIR4734,MLLT6,PCGF2,SRCIN1 chr17 36744410 36745511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36748585 36748637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRCIN1 chr17 36755870 36760590 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRCIN1 chr17 36755870 36760590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36755870 36760590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRCIN1 chr17 36755876 36760590 Gain and loss Pancreatic cancer SNP array 17952125 SRCIN1 chr17 36758317 36785944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRCIN1 chr17 36760271 36779253 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SRCIN1 chr17 36760531 36779150 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 SRCIN1 chr17 36770542 36776009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 36773277 36779573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36773277 36779578 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36773277 36779578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36773277 36779578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36785827 36793150 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 36786395 36790200 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 36786796 36812396 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 36787428 36792181 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 36787428 36792181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36787428 36792181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36787449 36792181 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3679801 3684400 Deletion Glioma mate-paired sequence 20126413 ITGAE chr17 36803505 36807370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36803505 36807370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3681534 3682591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITGAE chr17 36816290 36821553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36830335 36834348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf96 chr17 36830335 36834348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf96 chr17 36830335 36834636 Gain and loss Pancreatic cancer SNP array 17952125 C17orf96 chr17 36831283 36831320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 36841593 37123136 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf98,CISD3,CWC25,FBXO47,LASP1,LINC00672,MIR4726,MIR4727,MIR4734,MLLT6,PCGF2,PIP4K2B,PSMB3,RPL23,SNORA21 chr17 36846147 36851122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36846147 36851122 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 36846147 36851122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 36857961 36863833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4734,MLLT6 chr17 36869291 36877164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4726,MLLT6 chr17 36869291 36877164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4726,MLLT6 chr17 36869588 36877164 Gain and loss Pancreatic cancer SNP array 17952125 MIR4726,MLLT6 chr17 36877734 36877921 Gain and loss Pancreatic cancer SNP array 17952125 MLLT6 chr17 36877734 36877924 Gain and loss Pancreatic cancer SNP array 17952125 MLLT6 chr17 36877734 36877924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT6 chr17 36886467 36890918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CISD3,PCGF2 chr17 36886467 36890918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CISD3,PCGF2 chr17 36886467 36891194 Gain and loss Pancreatic cancer SNP array 17952125 CISD3,PCGF2 chr17 36894001 37010000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf98,CWC25,MIR4727,PCGF2,PIP4K2B,PSMB3,RPL23,SNORA21 chr17 36895916 36899642 Gain and loss Pancreatic cancer SNP array 17952125 PCGF2 chr17 36895916 36902324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCGF2 chr17 36895916 36902324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCGF2 chr17 36898973 36915391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCGF2,PSMB3 chr17 36898973 36915391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCGF2,PSMB3 chr17 36910760 36915391 Gain and loss Pancreatic cancer SNP array 17952125 PSMB3 chr17 369114 564758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 369114 564758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 36920703 36936394 Gain Normal Birdsuite, version 1.5.2 22087296 PIP4K2B chr17 36923523 36932191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIP4K2B chr17 36923523 36932191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIP4K2B chr17 36923524 36932191 Gain and loss Pancreatic cancer SNP array 17952125 PIP4K2B chr17 36933396 36938160 Gain and loss Pancreatic cancer SNP array 17952125 PIP4K2B chr17 36933396 36938167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIP4K2B chr17 36933396 36938167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIP4K2B chr17 3694501 3704250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITGAE chr17 36955774 36955849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIP4K2B chr17 36957429 36957493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CWC25 chr17 36970 37070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 36975494 37008718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf98,CWC25,MIR4727,RPL23 chr17 36975622 36981836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CWC25 chr17 36975622 36981836 Gain and loss Pancreatic cancer SNP array 17952125 CWC25 chr17 36975622 36981836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CWC25 chr17 36992058 36996673 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 C17orf98 chr17 36992059 36996673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf98 chr17 36992059 36996673 Gain and loss Pancreatic cancer SNP array 17952125 C17orf98 chr17 36992059 36996673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf98 chr17 37019559 37022545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 37019559 37022545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 37019559 37022545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 37019559 37022545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 37020001 37047000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LASP1 chr17 37029218 37034355 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LASP1 chr17 37029218 37034355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LASP1 chr17 37029218 37034355 Gain and loss Pancreatic cancer SNP array 17952125 LASP1 chr17 37029218 37034355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LASP1 chr17 37036105 37049977 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LASP1 chr17 37036105 37049977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LASP1 chr17 37036105 37049977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LASP1 chr17 37040166 37232171 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FBXO47,LASP1,LINC00672,LOC100131347,LRRC37A11P,PLXDC1 chr17 3704251 3711000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf85,ITGAE chr17 37042939 37043356 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 LASP1 chr17 37047001 37060500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LASP1 chr17 37048216 37081335 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LASP1 chr17 37060501 37070500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LASP1 chr17 37060738 37061202 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LASP1 chr17 37060738 37061202 Gain and loss Pancreatic cancer SNP array 17952125 LASP1 chr17 37070501 37178500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBXO47,LASP1,LINC00672 chr17 3707 1856379 Deletion Intellectual disability Array CGH 22102821 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,FAM101B,FAM57A,GEMIN4,GLOD4,INPP5K,LOC100506388,MIR22,MIR22HG,MIR3183,MYO1C,NXN,PITPNA,PITPNA-AS1,PRPF8,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SLC43A2,SMYD4,TIMM22,TLCD2,TUSC5,VPS53,WDR81,YWHAE chr17 37080000 38480000 Gain Acute lymphoblastic leukemia - 21339820 ARL5C,CACNB1,CASC3,CDC6,CDK12,CSF3,ERBB2,FBXL20,FBXO47,GRB7,GSDMA,GSDMB,IKZF3,LINC00672,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,RPL19,SNORD124,STAC2,STARD3,TCAP,THRA,WIPF2,ZPBP2 chr17 37086000 38485000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ARL5C,CACNB1,CASC3,CDC6,CDK12,CSF3,ERBB2,FBXL20,FBXO47,GRB7,GSDMA,GSDMB,IKZF3,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,RPL19,SNORD124,STAC2,STARD3,TCAP,THRA,WIPF2,ZPBP2 chr17 37096360 37704028 LOH Normal High-resolution SNP genotyping 21211785 ARL5C,CACNB1,CDK12,FBXL20,FBXO47,LOC100131347,LRRC37A11P,MED1,PLXDC1,RPL19,STAC2 chr17 37098653 37101424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FBXO47 chr17 37098653 37101424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO47 chr17 37098653 37101424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO47 chr17 37098669 37101419 Gain and loss Pancreatic cancer SNP array 17952125 FBXO47 chr1 7371001 7373500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr17 3710358 3743086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf85 chr17 3710358 3743086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf85 chr17 3710374 3743086 Gain and loss Pancreatic cancer SNP array 17952125 C17orf85 chr17 37107744 37108893 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 FBXO47 chr17 3711001 3834500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2A3,C17orf85,CAMKK1,P2RX1 chr17 37122106 37125749 Gain and loss Pancreatic cancer SNP array 17952125 FBXO47 chr17 37122139 37125746 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FBXO47 chr17 37122139 37125746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO47 chr17 37122139 37125746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO47 chr17 37127932 37128021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 37127932 37128038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 37127932 37128038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 37130591 37144422 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 37130591 37144422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 37130591 37144422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 37132417 37144422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 37137604 37933876 LOH Normal High-resolution SNP genotyping 21211785 ARL5C,CACNB1,CDK12,ERBB2,FBXL20,GRB7,IKZF3,LOC100131347,LRRC37A11P,MED1,MIEN1,MIR4728,NEUROD2,PGAP3,PLXDC1,PNMT,PPP1R1B,RPL19,STAC2,STARD3,TCAP chr17 37139905 37140183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 37139905 37140183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 37142507 37148208 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr17 37164382 37196476 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRRC37A11P chr17 37164382 37196476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC37A11P chr17 37164382 37196476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC37A11P chr17 37164390 37196476 Gain and loss Pancreatic cancer SNP array 17952125 LRRC37A11P chr17 37178501 37183000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 3718032 3718272 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 C17orf85 chr17 37183001 37235500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131347,LRRC37A11P,PLXDC1 chr17 37190000 38430000 Amplification Sezary syndrome Array-based CGH 18413736 ARL5C,CACNB1,CASC3,CDK12,CSF3,ERBB2,FBXL20,GRB7,GSDMA,GSDMB,IKZF3,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RPL19,SNORD124,STAC2,STARD3,TCAP,THRA,WIPF2,ZPBP2 chr17 37190883 38426381 LOH Normal High-resolution SNP genotyping 21211785 ARL5C,CACNB1,CASC3,CDK12,CSF3,ERBB2,FBXL20,GRB7,GSDMA,GSDMB,IKZF3,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RPL19,SNORD124,STAC2,STARD3,TCAP,THRA,WIPF2,ZPBP2 chr17 37194228 38313239 LOH Normal High-resolution SNP genotyping 21211785 ARL5C,CACNB1,CASC3,CDK12,CSF3,ERBB2,FBXL20,GRB7,GSDMA,GSDMB,IKZF3,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RPL19,SNORD124,STAC2,STARD3,TCAP,THRA,ZPBP2 chr17 37195373 39325272 LOH Normal High-resolution SNP genotyping 21211785 ARL5C,CACNB1,CASC3,CCR7,CDC6,CDK12,CSF3,ERBB2,FBXL20,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT10,KRT12,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT39,KRT40,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-11,KRTAP4-12,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,LOC100131347,LRRC37A11P,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,RPL19,SMARCE1,SNORD124,STAC2,STARD3,TCAP,THRA,TMEM99,TNS4,TOP2A,WIPF2,ZPBP2 chr17 37211725 37222381 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100131347,PLXDC1 chr17 37211725 37222381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100131347,PLXDC1 chr17 37211725 37222381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100131347,PLXDC1 chr17 37211732 37222381 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131347,PLXDC1 chr17 37222719 38815947 LOH Normal High-resolution SNP genotyping 21211785 ARL5C,CACNB1,CASC3,CCR7,CDC6,CDK12,CSF3,ERBB2,FBXL20,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT222,LOC100131347,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,RPL19,SMARCE1,SNORD124,STAC2,STARD3,TCAP,THRA,TNS4,TOP2A,WIPF2,ZPBP2 chr17 37222719 38828407 LOH Normal High-resolution SNP genotyping 21211785 ARL5C,CACNB1,CASC3,CCR7,CDC6,CDK12,CSF3,ERBB2,FBXL20,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT222,LOC100131347,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,RPL19,SMARCE1,SNORD124,STAC2,STARD3,TCAP,THRA,TNS4,TOP2A,WIPF2,ZPBP2 chr17 37222727 37232995 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100131347,PLXDC1 chr17 37222727 37232995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100131347,PLXDC1 chr17 37222727 37232995 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131347,PLXDC1 chr17 37222727 37232995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100131347,PLXDC1 chr17 37225685 38832725 LOH Normal High-resolution SNP genotyping 21211785 ARL5C,CACNB1,CASC3,CCR7,CDC6,CDK12,CSF3,ERBB2,FBXL20,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT222,LOC100131347,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PLXDC1,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,RPL19,SMARCE1,SNORD124,STAC2,STARD3,TCAP,THRA,TNS4,TOP2A,WIPF2,ZPBP2 chr17 3722909 4467178 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ANKFY1,ATP2A3,C17orf85,CAMKK1,CYB5D2,GGT6,MYBBP1A,P2RX1,SPNS2,SPNS3,UBE2G1,ZZEF1 chr17 37234959 37245980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100131347,PLXDC1 chr17 37234959 37245980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100131347,PLXDC1 chr17 37234959 37246017 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100131347,PLXDC1 chr17 37234982 37245983 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131347,PLXDC1 chr17 37235501 37327500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARL5C,LOC100131347,PLXDC1 chr17 37246863 37258401 Amplification or deletion Cancer Array CGH 17440070 PLXDC1 chr17 37247569 37258125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLXDC1 chr17 37247569 37258125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXDC1 chr17 37247587 37258139 Gain and loss Pancreatic cancer SNP array 17952125 PLXDC1 chr17 37263325 37275176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLXDC1 chr17 37263325 37275176 Gain and loss Pancreatic cancer SNP array 17952125 PLXDC1 chr17 37263325 37275176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXDC1 chr17 37276696 37328798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL5C,PLXDC1 chr17 37276696 37328798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL5C,PLXDC1 chr17 37276710 37328798 Gain and loss Pancreatic cancer SNP array 17952125 ARL5C,PLXDC1 chr17 37304199 37304273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXDC1 chr17 37319013 37988602 Deletion Cancer Affymetrix 250K Sty array 20164920 ARL5C,CACNB1,CDK12,ERBB2,FBXL20,GRB7,IKZF3,MED1,MIEN1,MIR4728,NEUROD2,PGAP3,PNMT,PPP1R1B,RPL19,STAC2,STARD3,TCAP chr17 3732133 3732218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C17orf85 chr17 37327501 37329500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 37329501 37364500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNB1,RPL19 chr17 37333080 37346656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNB1 chr17 37333795 37366291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNB1,RPL19 chr17 37340424 37371174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNB1,RPL19,STAC2 chr17 37340424 37371174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNB1,RPL19,STAC2 chr17 37346602 37370419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNB1,RPL19,STAC2 chr17 37347267 37366160 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNB1,RPL19 chr17 37348147 37380705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNB1,RPL19,STAC2 chr17 37348482 37362461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNB1,RPL19 chr1 73735700 73736235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 37364501 37382000 Copy number Normal ReadDepth: A Parallel R Package 21305028 STAC2 chr17 37368091 38826179 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CCR7,CDC6,CDK12,CSF3,ERBB2,FBXL20,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT222,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,SMARCE1,SNORD124,STAC2,STARD3,TCAP,THRA,TNS4,TOP2A,WIPF2,ZPBP2 chr17 37372285 37383280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAC2 chr17 37372285 37383280 Gain and loss Pancreatic cancer SNP array 17952125 STAC2 chr17 37372285 37383280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAC2 chr17 37381982 37422960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL20,STAC2 chr17 37381982 37422960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL20,STAC2 chr17 37381983 37423197 Gain and loss Pancreatic cancer SNP array 17952125 FBXL20,STAC2 chr17 37401330 37452978 Amplification or deletion Cancer Array CGH 17440070 FBXL20 chr17 37422501 37599500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBXL20,MED1 chr17 37422563 37431182 Gain or loss Breast cancer - 20668451 FBXL20 chr17 37422563 37431182 Gain or loss Cancer - 20668451 FBXL20 chr17 37422563 37431182 Gain or loss Lung cancer - 20668451 FBXL20 chr17 37422563 37431182 Gain or loss Ovarian cancer - 20668451 FBXL20 chr17 37422563 37431182 Gain or loss Pancreas cancer - 20668451 FBXL20 chr17 37422563 37431182 Gain or loss Prostate cancer - 20668451 FBXL20 chr17 37422564 37431180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37422564 37431180 Gain and loss Pancreatic cancer SNP array 17952125 FBXL20 chr17 37422564 37431180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 3743015 3743015 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 C17orf85 chr17 3743015 3743015 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 C17orf85 chr17 37431120 37459533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37431120 37459533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37431122 37468501 Gain and loss Pancreatic cancer SNP array 17952125 FBXL20 chr17 3746638 3766709 Gain and loss Pancreatic cancer SNP array 17952125 C17orf85,CAMKK1 chr17 3746640 3766709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf85,CAMKK1 chr17 3746640 3766709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf85,CAMKK1 chr17 37466783 37470909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 3749306 4237605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKFY1,ATP2A3,C17orf85,CAMKK1,CYB5D2,P2RX1,UBE2G1,ZZEF1 chr17 37502280 37923756 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CDK12,ERBB2,FBXL20,GRB7,IKZF3,MED1,MIEN1,MIR4728,NEUROD2,PGAP3,PNMT,PPP1R1B,STARD3,TCAP chr17 37506952 37518277 Gain and loss Pancreatic cancer SNP array 17952125 FBXL20 chr17 37506979 37518277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37506979 37518277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37518654 37526908 Gain or loss Breast cancer - 20668451 FBXL20 chr17 37518654 37526908 Gain or loss Cancer - 20668451 FBXL20 chr17 37518654 37526908 Gain or loss Lung cancer - 20668451 FBXL20 chr17 37518654 37526908 Gain or loss Ovarian cancer - 20668451 FBXL20 chr17 37518654 37526908 Gain or loss Pancreas cancer - 20668451 FBXL20 chr17 37518654 37526908 Gain or loss Prostate cancer - 20668451 FBXL20 chr17 37518655 37526901 Gain and loss Pancreatic cancer SNP array 17952125 FBXL20 chr17 37518657 37526872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37518657 37526872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37526975 37528895 Gain and loss Pancreatic cancer SNP array 17952125 FBXL20 chr17 37528361 37528897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37528361 37528897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL20 chr17 37530522 37560548 Gain or loss Breast cancer - 20668451 FBXL20,MED1 chr17 37530522 37560548 Gain or loss Cancer - 20668451 FBXL20,MED1 chr17 37530522 37560548 Gain or loss Lung cancer - 20668451 FBXL20,MED1 chr17 37530522 37560548 Gain or loss Ovarian cancer - 20668451 FBXL20,MED1 chr17 37530522 37560548 Gain or loss Pancreas cancer - 20668451 FBXL20,MED1 chr17 37530522 37560548 Gain or loss Prostate cancer - 20668451 FBXL20,MED1 chr17 37530524 37560548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL20,MED1 chr17 37530524 37560548 Gain and loss Pancreatic cancer SNP array 17952125 FBXL20,MED1 chr17 37530524 37560548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL20,MED1 chr17 37537531 37537574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXL20 chr17 37561921 37562021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED1 chr17 37562439 37586822 Gain and loss Pancreatic cancer SNP array 17952125 MED1 chr17 37562439 37586822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED1 chr17 37583618 38826179 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CCR7,CDC6,CDK12,CSF3,ERBB2,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT222,LRRC3C,MED1,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,SMARCE1,SNORD124,STARD3,TCAP,THRA,TNS4,TOP2A,WIPF2,ZPBP2 chr17 37589604 37590996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED1 chr17 37589604 37590996 Gain and loss Pancreatic cancer SNP array 17952125 MED1 chr17 37589604 37590996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED1 chr17 37594632 37599143 Gain and loss Pancreatic cancer SNP array 17952125 MED1 chr17 37594632 37599722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED1 chr17 37594632 37599722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED1 chr17 37604720 37681950 Gain or loss Breast cancer - 20668451 CDK12,MED1 chr17 37604720 37681950 Gain or loss Cancer - 20668451 CDK12,MED1 chr17 37604720 37681950 Gain or loss Lung cancer - 20668451 CDK12,MED1 chr17 37604720 37681950 Gain or loss Ovarian cancer - 20668451 CDK12,MED1 chr17 37604720 37681950 Gain or loss Pancreas cancer - 20668451 CDK12,MED1 chr17 37604720 37681950 Gain or loss Prostate cancer - 20668451 CDK12,MED1 chr17 37604722 37681950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK12,MED1 chr17 37604722 37681950 Gain and loss Pancreatic cancer SNP array 17952125 CDK12,MED1 chr17 37604722 37681950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK12,MED1 chr17 3761691 3814485 Gain and loss Pancreatic cancer SNP array 17952125 CAMKK1,P2RX1 chr17 37623501 37627000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDK12 chr17 37681001 37720000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDK12 chr17 37686990 37687030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDK12 chr17 37693090 37717484 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 37693090 37717484 Gain or loss Cancer - 20668451 NOT_FOUND chr17 37693090 37717484 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 37693090 37717484 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 37693090 37717484 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 37693090 37717484 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 37693091 37717484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 37693091 37717484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 37693865 37717484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 3769618 3814491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMKK1,P2RX1 chr17 3769618 3814491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMKK1,P2RX1 chr17 37701986 39160102 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CCR7,CDC6,CSF3,ERBB2,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT10,KRT12,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT39,KRT40,KRTAP3-2,KRTAP3-3,LRRC3C,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,SMARCE1,SNORD124,STARD3,TCAP,THRA,TMEM99,TNS4,TOP2A,WIPF2,ZPBP2 chr17 37718868 37794039 Gain or loss Breast cancer - 20668451 NEUROD2,PPP1R1B,STARD3 chr17 37718868 37794039 Gain or loss Cancer - 20668451 NEUROD2,PPP1R1B,STARD3 chr17 37718868 37794039 Gain or loss Lung cancer - 20668451 NEUROD2,PPP1R1B,STARD3 chr17 37718868 37794039 Gain or loss Ovarian cancer - 20668451 NEUROD2,PPP1R1B,STARD3 chr17 37718868 37794039 Gain or loss Pancreas cancer - 20668451 NEUROD2,PPP1R1B,STARD3 chr17 37718868 37794039 Gain or loss Prostate cancer - 20668451 NEUROD2,PPP1R1B,STARD3 chr17 37718869 37794039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEUROD2,PPP1R1B,STARD3 chr17 37718869 37794039 Gain and loss Pancreatic cancer SNP array 17952125 NEUROD2,PPP1R1B,STARD3 chr17 37718869 37794039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEUROD2,PPP1R1B,STARD3 chr17 37719964 39224666 LOH Normal - 20944671 CASC3,CCR7,CDC6,CSF3,ERBB2,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT10,KRT12,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT39,KRT40,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,LRRC3C,MED24,MIEN1,MIR4728,MSL1,NEUROD2,NR1D1,ORMDL3,PGAP3,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,SMARCE1,SNORD124,STARD3,TCAP,THRA,TMEM99,TNS4,TOP2A,WIPF2,ZPBP2 chr17 3773917 3814485 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 CAMKK1,P2RX1 chr17 37749347 37749441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 73775085 73776024 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 37782777 37782865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 37789981 37790057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R1B chr17 37792629 38922402 Gain Urothelial carcinoma array CGH validated by FISH 21177765 CASC3,CCR7,CDC6,CSF3,ERBB2,GJD3,GRB7,GSDMA,GSDMB,IGFBP4,IKZF3,KRT222,KRT24,KRT25,LRRC3C,MED24,MIEN1,MIR4728,MSL1,NR1D1,ORMDL3,PGAP3,PNMT,PPP1R1B,PSMD3,RAPGEFL1,RARA,SMARCE1,SNORD124,STARD3,TCAP,THRA,TNS4,TOP2A,WIPF2,ZPBP2 chr17 37795881 38309630 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CSF3,ERBB2,GRB7,GSDMA,GSDMB,IKZF3,LRRC3C,MED24,MIEN1,MIR4728,MSL1,NR1D1,ORMDL3,PGAP3,PNMT,PSMD3,SNORD124,STARD3,TCAP,THRA,ZPBP2 chr17 37800000 41900000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Deletion Mental retardation array-CGH 20152051 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Deletion Mental retardation References 19951919 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Deletion Normal - 21851588 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Deletion or duplication Mental retardation References 21956041 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Gain Brain cancer GeneChip Mapping 10K 2.0 Array 19584924 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Gain or loss Schizophrenia Affymetrix 6.0 array 21399695 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Gain Schizophrenia Affymetrix 6.0 array 21399695 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Inversion Non-syndromic sensorineural hearing loss FISH Inversion Assay 19165922 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Loss Prader-willi syndrome SignatureChip OS2.0 manufactured for Signature Genomic Laboratories 20588305 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Microdeletion 17q21.31 microdeletion syndrome - 16940994 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Microdeletion 17q21.31 microdeletion syndrome FISH 20606400 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Microdeletion 17q21.31 microdeletion syndrome MLPA 22283845 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Microdeletion 17q21.31 microdeletion syndrome Nsp1 250K SNP array 18628315 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Microdeletion Intellectual disability References 22194194 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 41900000 Microdeletion Non-syndromic sensorineural hearing loss Array-CGH 21084979 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf105,CASC3,CCR10,CCR7,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CSF3,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ERBB2,ETV4,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,GJD3,GRB7,GSDMA,GSDMB,HAP1,HCRT,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LRRC3C,MED24,MEOX1,MIEN1,MIR2117,MIR4728,MIR5010,MLX,MPP3,MSL1,NAGLU,NBR1,NBR2,NKIRAS2,NR1D1,NT5C3L,ORMDL3,PGAP3,PLEKHH3,PNMT,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,SMARCE1,SNORD124,SOST,STARD3,STAT3,STAT5A,STAT5B,TCAP,THRA,TMEM106A,TMEM106A-AS1,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 44800000 Amplification Ovarian clear cell carcinoma FISH 19293255 AARSD1,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP6V0A1,ATXN7L3,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CASC3,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DNAJC7,DUSP3,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FKBP10,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GJC1,GJD3,GPATCH8,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,ITGA2B,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED24,MEOX1,MGC57346,MIEN1,MIR2117,MIR4315-1,MIR4315-2,MIR4728,MIR5010,MLX,MPP2,MPP3,MSL1,NAGLU,NAGS,NBR1,NBR2,NKIRAS2,NMT1,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,PGAP3,PLCD3,PLEKHH3,PLEKHM1,PNMT,PPY,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SMARCE1,SNORD124,SOST,SPPL2C,STARD3,STAT3,STAT5A,STAT5B,STH,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TUBG1,TUBG2,UBTF,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 44800000 Gain Malignant fibrous histiocytomas aCGH 21085701 AARSD1,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP6V0A1,ATXN7L3,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CASC3,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC6,CNP,CNTD1,CNTNAP1,COA3,COASY,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DNAJC7,DUSP3,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FKBP10,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GJC1,GJD3,GPATCH8,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HSD17B1,HSPB9,IFI35,IGFBP4,IKZF3,ITGA2B,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED24,MEOX1,MGC57346,MIEN1,MIR2117,MIR4315-1,MIR4315-2,MIR4728,MIR5010,MLX,MPP2,MPP3,MSL1,NAGLU,NAGS,NBR1,NBR2,NKIRAS2,NMT1,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,PGAP3,PLCD3,PLEKHH3,PLEKHM1,PNMT,PPY,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SMARCE1,SNORD124,SOST,SPPL2C,STARD3,STAT3,STAT5A,STAT5B,STH,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TUBG1,TUBG2,UBTF,VAT1,VPS25,WIPF2,WNK4,ZNF385C,ZPBP2 chr17 37800000 47600000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 AARSD1,ABI3,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4728,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL45P2,MSL1,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,OSBPL7,PGAP3,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNMT,PNPO,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SKAP1,SLC25A39,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPPL2C,STARD3,STAT3,STAT5A,STAT5B,STH,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF385C,ZNF652,ZPBP2 chr17 37800000 47600000 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 AARSD1,ABI3,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4728,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL45P2,MSL1,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,OSBPL7,PGAP3,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNMT,PNPO,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SKAP1,SLC25A39,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPPL2C,STARD3,STAT3,STAT5A,STAT5B,STH,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF385C,ZNF652,ZPBP2 chr17 37800000 47600000 Microdeletion TAR Syndrome References 17847015 AARSD1,ABI3,ACBD4,ACLY,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CNP,CNTD1,CNTNAP1,COA3,COASY,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,ERBB2,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRB7,GRN,GSDMA,GSDMB,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,IKZF3,ITGA2B,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MED24,MEOX1,MGC57346,MIEN1,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR4728,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL45P2,MSL1,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,ORMDL3,OSBPL7,PGAP3,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNMT,PNPO,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SKAP1,SLC25A39,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPPL2C,STARD3,STAT3,STAT5A,STAT5B,STH,TBKBP1,TBX21,TCAP,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM99,TMUB2,TNS4,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,VAT1,VPS25,WIPF2,WNK4,WNT3,WNT9B,ZNF385C,ZNF652,ZPBP2 chr17 37800000 78774742 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCR10,CCR7,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERBB2,ERN1,ETV4,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAST,GDPD1,GFAP,GGA3,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4728,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MLX,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGAP3,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC3IP,PSMC5,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,QRICH2,RAB37,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMEM99,TMUB2,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF385C,ZNF652,ZPBP2 chr17 37800000 78774742 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASC3,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCR10,CCR7,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDC6,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSF3,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERBB2,ERN1,ETV4,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAST,GDPD1,GFAP,GGA3,GH1,GH2,GHDC,GIP,GJC1,GJD3,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRB7,GRIN2C,GRN,GSDMA,GSDMB,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,IKZF3,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MED24,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIEN1,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4728,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MLX,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NR1D1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OR4D1,OR4D2,ORMDL3,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGAP3,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PNMT,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC3IP,PSMC5,PSMD12,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,QRICH2,RAB37,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD124,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STARD3,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TCAP,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,THRA,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMEM99,TMUB2,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPF2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF385C,ZNF652,ZPBP2 chr17 37804553 37804635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STARD3 chr17 37807993 37828800 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PGAP3,PNMT,STARD3,TCAP chr17 37808001 37828800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGAP3,PNMT,STARD3,TCAP chr17 37808001 37828800 Gain and loss Pancreatic cancer SNP array 17952125 PGAP3,PNMT,STARD3,TCAP chr17 37808001 37828800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGAP3,PNMT,STARD3,TCAP chr17 37810692 38426381 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CSF3,ERBB2,GRB7,GSDMA,GSDMB,IKZF3,LRRC3C,MED24,MIEN1,MIR4728,MSL1,NR1D1,ORMDL3,PGAP3,PNMT,PSMD3,RAPGEFL1,SNORD124,STARD3,TCAP,THRA,WIPF2,ZPBP2 chr17 37822152 38426381 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CSF3,ERBB2,GRB7,GSDMA,GSDMB,IKZF3,LRRC3C,MED24,MIEN1,MIR4728,MSL1,NR1D1,ORMDL3,PGAP3,PNMT,PSMD3,RAPGEFL1,SNORD124,TCAP,THRA,WIPF2,ZPBP2 chr17 37844392 37884914 Amplification Breast cancer 244K CGH oligonucleotide microarrays 20932292 ERBB2,MIR4728 chr17 37844392 37884914 Amplification Breast cancer FISH 18702822 ERBB2,MIR4728 chr17 37844392 37884914 Amplification Breast cancer FISH 20943603 ERBB2,MIR4728 chr17 37844392 37884914 Amplification Breast cancer RT-PCR 17938205 ERBB2,MIR4728 chr17 37844392 37884914 Amplification Gastric adenocarcinoma aCGH 22014070 ERBB2,MIR4728 chr17 37844392 37884914 Gain Pheochromocytoma SALSA P005 and P006 Chromosomal Aberration MLPA Kit 18310300 ERBB2,MIR4728 chr17 37845742 37845804 Gain and loss Pancreatic cancer SNP array 17952125 ERBB2 chr17 37856253 37868583 Amplification Breast cancer dCHIP software 18086299 ERBB2 chr17 37856253 37868583 Amplification Breast cancer FISH 17260090 ERBB2 chr17 37856253 37868583 Amplification Breast cancer FISH 20217132 ERBB2 chr17 37856253 37868583 Amplification Breast cancer FISH 22042366 ERBB2 chr17 37856253 37868583 Amplification Breast cancer GISTIC 18335499 ERBB2 chr17 37856253 37868583 Amplification Breast cancer Qiagen RNeasy Mini Kit 21633010 ERBB2 chr17 37856253 37868583 Amplification Ovarian cancer FISH 20217132 ERBB2 chr17 37856253 37868583 Amplification Salivary gland carcinoma Fluorescence in situ hybridisation 22240798 ERBB2 chr17 37856253 37868583 Copy number Breast cancer FISH 20697085 ERBB2 chr17 37856253 37868583 Copy number Non-small cell lung cancer FISH 17317677 ERBB2 chr17 37856253 37868583 Duplication Cancer FISH 20697084 ERBB2 chr17 37856253 37868583 Gain Lung cancer PCR and sequenced 17626639 ERBB2 chr17 37856253 37884915 Amplification Cervical cancer array CGH and SNP array 17311676 ERBB2,MIR4728 chr17 37856253 37884915 Gain Esophageal adenocarcinoma MLPA 18820669 ERBB2,MIR4728 chr17 37856253 37884915 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ERBB2,MIR4728 chr17 37856254 37884915 Amplification Carcinoma ex pleomorphic adenoma array-CGH 18828159 ERBB2,MIR4728 chr17 37864388 37928122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERBB2,GRB7,IKZF3,MIEN1,MIR4728 chr17 37864388 37928122 Gain and loss Pancreatic cancer SNP array 17952125 ERBB2,GRB7,IKZF3,MIEN1,MIR4728 chr17 37864388 37928122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB2,GRB7,IKZF3,MIEN1,MIR4728 chr17 37866615 37866715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB2 chr17 37873726 37873899 Amplification Breast cancer FISH 19019769 ERBB2 chr17 37873726 37873899 Amplification Breast cancer MLPA 19123950 ERBB2 chr17 37873726 37873899 Amplification Breast cancer MLPA and CISH 19767729 ERBB2 chr17 37873726 37873899 Amplification Invasive breast cancer FISH 19060846 ERBB2 chr17 37873726 37873899 Amplificationlication Neuroblastic tumor FISH 20581805 ERBB2 chr17 37873726 37873899 Copy number Ovarian cancer FISH 18182111 ERBB2 chr17 37941477 37949990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37941477 37949990 Gain and loss Pancreatic cancer SNP array 17952125 IKZF3 chr17 37941477 37949990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37941477 37949992 Copy number Autism exome sequencing 22495311 IKZF3 chr17 37948501 37973500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IKZF3 chr17 3794963 3795017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMKK1 chr17 37951956 37953854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37952308 37953854 Gain and loss Pancreatic cancer SNP array 17952125 IKZF3 chr17 37954758 37960750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37954758 37960750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37954758 37960757 Gain and loss Pancreatic cancer SNP array 17952125 IKZF3 chr17 3796697 3796791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 37967617 37971821 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 IKZF3 chr17 37967618 37971821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37967618 37971821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37967673 37971821 Gain and loss Pancreatic cancer SNP array 17952125 IKZF3 chr17 37972604 37978746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37972604 37978746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37972616 37978783 Gain and loss Pancreatic cancer SNP array 17952125 IKZF3 chr17 37977879 37983375 Gain and loss Pancreatic cancer SNP array 17952125 IKZF3 chr17 37977881 37983375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37977881 37983375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37985066 38014928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 37985066 38014928 Gain and loss Pancreatic cancer SNP array 17952125 IKZF3 chr17 37985066 38014928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 38004501 38004601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IKZF3 chr17 38014501 38016000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IKZF3 chr17 38015220 38020773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 38015220 38020773 Gain and loss Pancreatic cancer SNP array 17952125 IKZF3 chr17 38015220 38020773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF3 chr17 38016001 38075000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GSDMB,IKZF3,ZPBP2 chr17 38053722 38054282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 38064837 38072547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSDMB chr17 38064837 38072547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSDMB chr17 38064837 38072549 Gain and loss Pancreatic cancer SNP array 17952125 GSDMB chr17 38073461 38082495 Gain and loss Pancreatic cancer SNP array 17952125 GSDMB,ORMDL3 chr17 38073463 38082495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSDMB,ORMDL3 chr17 38073463 38082495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSDMB,ORMDL3 chr17 38075001 38090000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ORMDL3 chr17 38077290 38077389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ORMDL3 chr17 38084945 38087371 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 38084945 38087371 Gain or loss Cancer - 20668451 NOT_FOUND chr17 38084945 38087371 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 38084945 38087371 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 38084945 38087371 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 38084945 38087371 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 38084946 38087371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 38084946 38087371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 38084962 38087371 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 38088157 38105358 Gain or loss Breast cancer - 20668451 LRRC3C chr17 38088157 38105358 Gain or loss Cancer - 20668451 LRRC3C chr17 38088157 38105358 Gain or loss Lung cancer - 20668451 LRRC3C chr17 38088157 38105358 Gain or loss Ovarian cancer - 20668451 LRRC3C chr17 38088157 38105358 Gain or loss Pancreas cancer - 20668451 LRRC3C chr17 38088157 38105358 Gain or loss Prostate cancer - 20668451 LRRC3C chr17 38088158 38105358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC3C chr17 38088158 38105358 Gain and loss Pancreatic cancer SNP array 17952125 LRRC3C chr17 38088158 38105358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC3C chr17 38090001 38443000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CASC3,CSF3,GSDMA,LRRC3C,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,SNORD124,THRA,WIPF2 chr17 38090564 38972724 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CCR7,CDC6,CSF3,GJD3,GSDMA,IGFBP4,KRT222,KRT24,KRT25,KRT26,KRT27,KRT28,LRRC3C,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,RARA,SMARCE1,SNORD124,THRA,TNS4,TOP2A,WIPF2 chr17 38100000 38400000 Copy number HIV/AIDS Real-Time PCR 18360285 CASC3,CSF3,GSDMA,LRRC3C,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,SNORD124,THRA,WIPF2 chr17 38100000 38400000 Copy number HIV/AIDS TaqMan assays 17330138 CASC3,CSF3,GSDMA,LRRC3C,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,SNORD124,THRA,WIPF2 chr17 38100000 38400000 Copy number Systemic lupus erythematosus References 19287148 CASC3,CSF3,GSDMA,LRRC3C,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,SNORD124,THRA,WIPF2 chr17 38100000 38400000 Deletion Frontotemporal lobar degeneration References 19640594 CASC3,CSF3,GSDMA,LRRC3C,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,SNORD124,THRA,WIPF2 chr17 38100000 38400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 CASC3,CSF3,GSDMA,LRRC3C,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,SNORD124,THRA,WIPF2 chr17 38100000 38400000 Loss HIV/AIDS References 17008540 CASC3,CSF3,GSDMA,LRRC3C,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,SNORD124,THRA,WIPF2 chr17 38100000 50200000 Amplification Breast cancer - 19261255 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Amplification Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Copy number Basal-like breast cancer 32K BAC Array CGH platform 18066063 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Copy number Breast cancer References 20031965 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Copy number Colorectal cancer - 19287155 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Copy number Hereditary breast References 19566914 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Copy number Ovarian cancer Affymetrix 50K Xba Mapping Array 19047089 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Copy number Ovarian cancer References 19566914 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Copy number Triple-negative breast cancer 7500 Fast Real-Time PCR 18950515 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Deletion Breast cancer FISH 16846527 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Deletion Lung cancer Relied on a multipoint score function 16773561 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Loss Breast cancer - 19261255 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 50200000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COL1A1,COPZ2,CRHR1,CSF3,DBF4B,DCAKD,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,EFCAB13,EFTUD2,EIF1,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MSL1,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STAT3,STAT5A,STAT5B,STH,TAC4,TBKBP1,TBX21,TEX34,THRA,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOP2A,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,ZNF385C,ZNF652 chr17 38100000 57600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AARSD1,ABCC3,ABI3,ACBD4,ACLY,ACSF2,ADAM11,AKAP1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf112,C17orf47,C17orf53,C17orf65,C17orf67,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CASC3,CBX1,CCDC103,CCDC43,CCR10,CCR7,CD300LG,CDC27,CDC6,CDK5RAP3,CHAD,CNP,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,COX11,CRHR1,CSF3,CUEDC1,DBF4B,DCAKD,DGKE,DHX58,DHX8,DLX3,DLX4,DNAJC7,DUSP3,DYNLL2,EFCAB13,EFTUD2,EIF1,EME1,EPN3,EPX,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FKBP10,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GAST,GDPD1,GFAP,GHDC,GIP,GJC1,GJD3,GNGT2,GOSR2,GPATCH8,GRN,GSDMA,HAP1,HCRT,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,IFI35,IGF2BP1,IGFBP4,ITGA2B,ITGA3,ITGB3,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KIF18B,KIF2B,KLHL10,KLHL11,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,LOC284080,LOC644172,LPO,LRRC37A,LRRC37A2,LRRC37A4P,LRRC3C,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED24,MEOX1,MGC57346,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR2117,MIR301A,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR454,MIR4729,MIR4736,MIR5010,MIR5089,MKS1,MLX,MMD,MPO,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MRPS23,MSI2,MSL1,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NR1D1,NSF,NSFP1,NT5C3L,NXPH3,OR4D1,OR4D2,OSBPL7,PCTP,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPM1E,PPP1R9B,PPY,PRAC,PRR11,PRR15L,PSMC3IP,PSMD3,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RAPGEFL1,RARA,RND2,RNF126P1,RNF43,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCPEP1,SCRN2,SEPT4,SGCA,SKA2,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMARCE1,SMG8,SNF8,SNORD124,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRSF1,STAT3,STAT5A,STAT5B,STH,STXBP4,SUPT4H1,TAC4,TBKBP1,TBX21,TEX14,TEX34,THRA,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMEM99,TMUB2,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TTC25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VEZF1,VPS25,WFIKKN2,WIPF2,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZNF385C,ZNF652 chr17 38105820 38150574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSDMA,PSMD3 chr17 38105820 38150574 Gain and loss Pancreatic cancer SNP array 17952125 GSDMA,PSMD3 chr17 38105820 38150574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSDMA,PSMD3 chr17 38133058 38826179 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CCR7,CDC6,CSF3,GJD3,GSDMA,IGFBP4,KRT222,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,RARA,SMARCE1,SNORD124,THRA,TNS4,TOP2A,WIPF2 chr17 38151039 38844158 LOH Normal High-resolution SNP genotyping 21211785 CASC3,CCR7,CDC6,CSF3,GJD3,IGFBP4,KRT222,MED24,MSL1,NR1D1,PSMD3,RAPGEFL1,RARA,SMARCE1,SNORD124,THRA,TNS4,TOP2A,WIPF2 chr17 38159477 38166648 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 38159477 38166801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 38163119 38163219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 38166731 38168585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 38166731 38168585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 38166737 38168585 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 38166738 38168580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 38178979 38185143 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MED24,SNORD124 chr17 38178980 38185142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED24,SNORD124 chr17 38178980 38185142 Gain and loss Pancreatic cancer SNP array 17952125 MED24,SNORD124 chr17 38178980 38185142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED24,SNORD124 chr17 38186222 38202344 Gain and loss Pancreatic cancer SNP array 17952125 MED24 chr17 38186222 38202587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED24 chr17 38186222 38202587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED24 chr17 38203179 38204245 Gain and loss Pancreatic cancer SNP array 17952125 MED24 chr17 38203179 38204248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED24 chr17 38203179 38204248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED24 chr17 38204464 38216179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED24 chr17 38204464 38216179 Gain and loss Pancreatic cancer SNP array 17952125 MED24 chr17 38204464 38216179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED24 chr17 38215675 38229836 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 THRA chr17 38215678 38229807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THRA chr17 38215678 38229807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THRA chr17 38215678 38229816 Gain and loss Pancreatic cancer SNP array 17952125 THRA chr17 38229968 38249303 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NR1D1,THRA chr17 38231442 38243546 Amplification or deletion Cancer Array CGH 17440070 THRA chr17 3823398 3823484 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 38238949 38249301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR1D1,THRA chr17 38238949 38249301 Gain and loss Pancreatic cancer SNP array 17952125 NR1D1,THRA chr17 38238949 38249301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR1D1,THRA chr17 38250135 38256247 Gain and loss Pancreatic cancer SNP array 17952125 NR1D1 chr17 38250135 38256248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR1D1 chr17 38250135 38256248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR1D1 chr17 38256727 38263664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR1D1 chr17 38256727 38263664 Gain and loss Pancreatic cancer SNP array 17952125 NR1D1 chr17 38256727 38263664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR1D1 chr17 38280217 38304247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASC3,MSL1 chr17 38280217 38304247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASC3,MSL1 chr17 38285124 38303321 Gain and loss Pancreatic cancer SNP array 17952125 CASC3,MSL1 chr17 38296886 38296982 Gain and loss Pancreatic cancer SNP array 17952125 CASC3 chr17 38296886 38296982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASC3 chr17 38306341 38318912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASC3 chr17 38306341 38318912 Gain and loss Pancreatic cancer SNP array 17952125 CASC3 chr17 38306341 38318912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASC3 chr1 73831089 73831189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 38320201 38421779 Loss Lung cancer Array CGH 21203850 CASC3,RAPGEFL1,WIPF2 chr17 38338390 38338485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAPGEFL1 chr17 38338392 38338485 Gain and loss Pancreatic cancer SNP array 17952125 RAPGEFL1 chr17 38338393 38338485 Gain and loss Pancreatic cancer SNP array 17952125 RAPGEFL1 chr17 38346118 38346245 Gain and loss Pancreatic cancer SNP array 17952125 RAPGEFL1 chr17 38346118 38346245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAPGEFL1 chr17 38350496 38350596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAPGEFL1 chr17 38352399 38385873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WIPF2 chr17 38356071 38385625 Gain and loss Pancreatic cancer SNP array 17952125 WIPF2 chr17 38356073 38386033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38356073 38386033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38386108 38399233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38386108 38399233 Gain and loss Pancreatic cancer SNP array 17952125 WIPF2 chr17 38386108 38399233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38400000 40900000 Amplification Breast cancer MLPA and CISH 19767729 ACLY,ATP6V0A1,CCR10,CCR7,CDC6,CNP,CNTNAP1,COASY,DHX58,DNAJC7,EIF1,EZH1,FAM134C,FKBP10,GAST,GHDC,GJD3,HAP1,HCRT,HSD17B1,HSPB9,IGFBP4,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LOC100505782,LOC147093,MIR5010,MLX,NAGLU,NKIRAS2,NT5C3L,PLEKHH3,PSMC3IP,PTRF,RAB5C,RARA,SMARCE1,STAT3,STAT5A,STAT5B,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,WIPF2,ZNF385C chr17 38400000 40900000 Amplification Human papillomavirus FISH 17975027 ACLY,ATP6V0A1,CCR10,CCR7,CDC6,CNP,CNTNAP1,COASY,DHX58,DNAJC7,EIF1,EZH1,FAM134C,FKBP10,GAST,GHDC,GJD3,HAP1,HCRT,HSD17B1,HSPB9,IGFBP4,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LOC100505782,LOC147093,MIR5010,MLX,NAGLU,NKIRAS2,NT5C3L,PLEKHH3,PSMC3IP,PTRF,RAB5C,RARA,SMARCE1,STAT3,STAT5A,STAT5B,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,WIPF2,ZNF385C chr17 38400000 40900000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACLY,ATP6V0A1,CCR10,CCR7,CDC6,CNP,CNTNAP1,COASY,DHX58,DNAJC7,EIF1,EZH1,FAM134C,FKBP10,GAST,GHDC,GJD3,HAP1,HCRT,HSD17B1,HSPB9,IGFBP4,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LOC100505782,LOC147093,MIR5010,MLX,NAGLU,NKIRAS2,NT5C3L,PLEKHH3,PSMC3IP,PTRF,RAB5C,RARA,SMARCE1,STAT3,STAT5A,STAT5B,TMEM99,TNS4,TOP2A,TTC25,TUBG1,TUBG2,WIPF2,ZNF385C chr17 38403459 38403550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38403461 38403550 Gain and loss Pancreatic cancer SNP array 17952125 WIPF2 chr17 38403466 38403550 Gain and loss Pancreatic cancer SNP array 17952125 WIPF2 chr17 38403971 38408497 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 WIPF2 chr17 38403972 38408482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38403972 38408482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38403972 38408491 Gain and loss Pancreatic cancer SNP array 17952125 WIPF2 chr17 38412351 38419998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38412351 38419998 Gain and loss Pancreatic cancer SNP array 17952125 WIPF2 chr17 38412351 38419998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38420148 38427930 Gain and loss Pancreatic cancer SNP array 17952125 WIPF2 chr17 38420148 38427985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38420148 38427985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38425359 39091575 Amplification Medulloblastoma Array CGH 16783165 CCR7,CDC6,GJD3,IGFBP4,KRT10,KRT12,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,RARA,SMARCE1,TMEM99,TNS4,TOP2A,WIPF2 chr17 38430783 38437584 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 WIPF2 chr17 38430784 38437583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38430784 38437583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIPF2 chr17 38430891 38434223 Gain and loss Pancreatic cancer SNP array 17952125 WIPF2 chr17 3843845 3878746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP2A3 chr17 38449839 38530994 Copy number Breast cancer - 16846527 CDC6,GJD3,RARA chr17 38449839 38530994 Copy number Breast cancer - 21637503 CDC6,GJD3,RARA chr17 38449839 38530994 Copy number Breast cancer direct sequencing 16760289 CDC6,GJD3,RARA chr17 38449839 38530994 Copy number Breast cancer MLPA 16551709 CDC6,GJD3,RARA chr17 38449839 38530994 Copy number Ovarian cancer - 21637503 CDC6,GJD3,RARA chr17 38449839 38530994 Copy number Ovarian cancer direct sequencing 16760289 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion and duplication Breast cancer MLPA 18703817 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Breast cancer - 17634833 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Breast cancer MLPA 17561994 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Breast cancer MLPA 17592676 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Breast cancer MLPA 18501021 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Breast cancer multiplex ligation-dependent probe amplification (MLPA) 16793929 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion early bilateral breast cancer array CGH 21989022 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Non-syndromic sensorineural hearing loss PCR 19491894 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Ovarian cancer MLPA 17561994 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Ovarian cancer MLPA 18501021 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Ovarian cancer multiplex ligation-dependent probe amplification 18465347 CDC6,GJD3,RARA chr17 38449839 38530994 Deletion Ovarian cancer multiplex ligation-dependent probe amplification (MLPA) 16793929 CDC6,GJD3,RARA chr17 38449839 38530994 Duplications,deletions Ovarian cancer - 18559594 CDC6,GJD3,RARA chr17 38449839 38530994 Gain or loss Breast cancer - 20668451 CDC6,GJD3,RARA chr17 38449839 38530994 Gain or loss Cancer - 20668451 CDC6,GJD3,RARA chr17 38449839 38530994 Gain or loss Lung cancer - 20668451 CDC6,GJD3,RARA chr17 38449839 38530994 Gain or loss Ovarian cancer - 20668451 CDC6,GJD3,RARA chr17 38449839 38530994 Gain or loss Pancreas cancer - 20668451 CDC6,GJD3,RARA chr17 38449839 38530994 Gain or loss Prostate cancer - 20668451 CDC6,GJD3,RARA chr17 38449839 38530994 Genomic rearrangement Breast cancer MLPA 16843109 CDC6,GJD3,RARA chr17 38449839 38530994 Genomic rearrangement Breast cancer MLPA 18465347 CDC6,GJD3,RARA chr17 38449839 38530994 Genomic rearrangement Disease Long-range PCR 17646271 CDC6,GJD3,RARA chr17 38449839 38530994 Genomic rearrangement Ovarian cancer MLPA 16843109 CDC6,GJD3,RARA chr17 38449839 38530994 Genomic rearrangement Ovarian cancer MLPA 18465347 CDC6,GJD3,RARA chr17 38449839 38530994 Genomic rearrangements Breast cancer MLPA 22377129 CDC6,GJD3,RARA chr17 38449839 38530994 Genomic rearrangements Ovarian cancer MLPA 22377129 CDC6,GJD3,RARA chr17 38449839 38530994 Loss Ovarian cancer MLPA 18208621 CDC6,GJD3,RARA chr17 38449840 38530994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC6,GJD3,RARA chr17 38449840 38530994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC6,GJD3,RARA chr17 38449844 38530934 Gain and loss Pancreatic cancer SNP array 17952125 CDC6,GJD3,RARA chr17 38475999 38476064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RARA chr17 38505587 38505685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RARA chr17 38521264 78444637 Gain Bladder cancer array-CGH 21909424 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCR10,CCR7,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAST,GDPD1,GFAP,GGA3,GH1,GH2,GHDC,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,IGFBP4,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT10,KRT12,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT39,KRT40,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100505782,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC147093,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MLX,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC3IP,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,QRICH2,RAB37,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMARCE1,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMEM99,TMUB2,TNRC6C,TNS4,TOB1,TOB1-AS1,TOM1L1,TOP2A,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF385C,ZNF652 chr17 38531135 38549760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOP2A chr17 38544283 38545514 Gain and loss Pancreatic cancer SNP array 17952125 TOP2A chr17 38544772 38574202 Amplification Cervical cancer array CGH and SNP array 17311676 TOP2A chr17 38544797 38574169 Amplification Breast cancer FISH 17260090 TOP2A chr17 38544797 38574169 Amplification Breast cancer FISH 18702822 TOP2A chr17 38544797 38574169 Amplification Breast cancer FISH 22042366 TOP2A chr17 38544797 38574169 Amplification Breast cancer GISTIC 18335499 TOP2A chr17 3854487 3993002 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ATP2A3,ZZEF1 chr17 3854487 3993002 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ATP2A3,ZZEF1 chr17 3854487 3993002 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ATP2A3,ZZEF1 chr17 3854489 3993002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2A3,ZZEF1 chr17 3854489 3993002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2A3,ZZEF1 chr17 3854489 3993063 Gain and loss Pancreatic cancer SNP array 17952125 ATP2A3,ZZEF1 chr17 3854499 3857198 Gain and loss Pancreatic cancer SNP array 17952125 ATP2A3 chr17 38547562 38547662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOP2A chr17 38557114 38557208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOP2A chr17 38560627 38814457 Loss Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 CCR7,IGFBP4,KRT222,SMARCE1,TNS4,TOP2A chr17 38576024 38719231 Gain and loss Pancreatic cancer SNP array 17952125 CCR7,IGFBP4,TNS4 chr17 38576772 38719232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCR7,IGFBP4,TNS4 chr17 38576772 38719232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCR7,IGFBP4,TNS4 chr17 38587412 38589075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 3862248 4153992 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ANKFY1,ATP2A3,CYB5D2,ZZEF1 chr17 38710043 39095187 Deletion Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 CCR7,KRT10,KRT12,KRT20,KRT222,KRT23,KRT24,KRT25,KRT26,KRT27,KRT28,SMARCE1,TMEM99 chr17 38719420 38727115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCR7 chr17 38719420 38727115 Gain and loss Pancreatic cancer SNP array 17952125 CCR7 chr17 38719420 38727115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCR7 chr17 38755183 38814469 Gain Normal Birdsuite, version 1.5.2 22087296 KRT222,SMARCE1 chr17 38777604 38804687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCE1 chr17 38780759 38825561 Loss or gain Normal 244K array 17666407 KRT222,SMARCE1 chr17 38793572 38795790 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMARCE1 chr17 38795301 38801738 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SMARCE1 chr17 38795930 38805931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCE1 chr17 38796550 38799387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCE1 chr17 38800793 38800981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMARCE1 chr17 38800802 38800976 Gain and loss Pancreatic cancer SNP array 17952125 SMARCE1 chr17 38800802 38800976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMARCE1 chr17 38808822 38821792 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KRT222 chr17 38808823 38821206 Gain and loss Pancreatic cancer SNP array 17952125 KRT222 chr17 38810460 38822096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT222 chr17 38818757 38822095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT222 chr17 38818757 38822095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT222 chr17 38820120 38820311 Gain and loss Pancreatic cancer SNP array 17952125 KRT222 chr17 38820120 38820311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT222 chr17 38820123 38820311 Gain and loss Pancreatic cancer SNP array 17952125 KRT222 chr17 38828887 38828959 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 38828887 38828959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 38831878 38834030 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 38831879 38834029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 38831879 38834029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 38831885 38834029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 38845321 38845424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 7388501 7485500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr17 38860534 38887059 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr17 38878401 38878507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 38878402 38878505 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 38906479 38906584 Gain and loss Pancreatic cancer SNP array 17952125 KRT25 chr17 38909092 38909559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT25 chr17 38909092 38909559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT25 chr17 38909093 38909559 Gain and loss Pancreatic cancer SNP array 17952125 KRT25 chr17 38916860 38957206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT26,KRT27,KRT28 chr17 38916860 38957206 Gain and loss Pancreatic cancer SNP array 17952125 KRT26,KRT27,KRT28 chr17 38916860 38957206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT26,KRT27,KRT28 chr17 38955501 39188000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT10,KRT12,KRT20,KRT23,KRT28,KRT39,KRT40,KRTAP1-4,KRTAP1-5,KRTAP3-1,KRTAP3-2,KRTAP3-3,TMEM99 chr17 38960736 38979288 Gain or loss Breast cancer - 20668451 KRT10,TMEM99 chr17 38960736 38979288 Gain or loss Cancer - 20668451 KRT10,TMEM99 chr17 38960736 38979288 Gain or loss Lung cancer - 20668451 KRT10,TMEM99 chr17 38960736 38979288 Gain or loss Ovarian cancer - 20668451 KRT10,TMEM99 chr17 38960736 38979288 Gain or loss Pancreas cancer - 20668451 KRT10,TMEM99 chr17 38960736 38979288 Gain or loss Prostate cancer - 20668451 KRT10,TMEM99 chr17 38960736 38979288 Rearrangement Prostate cancer array-based CGH 17079440 KRT10,TMEM99 chr17 38960738 38979288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT10,TMEM99 chr17 38960738 38979288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT10,TMEM99 chr17 38960741 38979228 Gain and loss Pancreatic cancer SNP array 17952125 KRT10,TMEM99 chr17 38969898 39004023 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRT10,TMEM99 chr17 39005051 39248277 Allelic imbalance Normal High-resolution SNP genotyping 21211785 KRT12,KRT20,KRT23,KRT39,KRT40,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-7 chr17 39005051 39248277 Copy number gain Normal High-resolution SNP genotyping 21211785 KRT12,KRT20,KRT23,KRT39,KRT40,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-7 chr17 39027178 39028190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 39073283 39094457 Gain and loss Pancreatic cancer SNP array 17952125 KRT23 chr17 39073296 39094788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT23 chr17 39073296 39094788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT23 chr17 39094767 39098704 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 39133290 39273024 Gain aortic dissecting aneurysms Array-CGH 22263138 KRT40,KRTAP1-1,KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-7,KRTAP4-8,KRTAP4-9 chr17 39161535 39195131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRTAP1-3,KRTAP1-4,KRTAP1-5,KRTAP3-1 chr17 39176829 39177006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 39181094 39181157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39186629 39191682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP1-3 chr17 39186629 39191682 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP1-3 chr17 39186629 39191682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP1-3 chr17 39187781 39824871 LOH Normal High-resolution SNP genotyping 21211785 KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT42P,KRT9,KRTAP1-1,KRTAP1-3,KRTAP16-1,KRTAP17-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LOC100505782,LOC147093 chr17 39188001 39192000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRTAP1-3 chr17 39192001 39280000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRTAP1-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP4-11,KRTAP4-12,KRTAP4-7,KRTAP4-8,KRTAP4-9 chr17 39199016 39211872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP2-1,KRTAP2-2 chr17 39199016 39211872 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP2-1,KRTAP2-2 chr17 39199016 39211872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP2-1,KRTAP2-2 chr17 3921207 3921277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZZEF1 chr17 39233693 39266064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP4-7,KRTAP4-8,KRTAP4-9 chr17 39233693 39266064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP4-7,KRTAP4-8,KRTAP4-9 chr17 39234315 39266064 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP4-7,KRTAP4-8,KRTAP4-9 chr17 39248277 39781652 LOH Normal High-resolution SNP genotyping 21211785 KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT9,KRTAP16-1,KRTAP17-1,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LOC100505782,LOC147093 chr1 73927225 73927330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 73927240 73927330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39280001 39542000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT33A,KRT33B,KRT34,KRTAP16-1,KRTAP17-1,KRTAP4-1,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9 chr17 39280050 39296520 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP4-12,KRTAP4-6 chr17 39280070 39296520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP4-12,KRTAP4-6 chr17 39280070 39296520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP4-12,KRTAP4-6 chr17 39308253 39340639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP4-1,KRTAP4-2,KRTAP4-3,KRTAP4-4 chr17 39308253 39340639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP4-1,KRTAP4-2,KRTAP4-3,KRTAP4-4 chr17 39308257 39340639 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP4-1,KRTAP4-2,KRTAP4-3,KRTAP4-4 chr17 39350088 39350879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39355813 39358325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39360232 40920928 LOH Normal High-resolution SNP genotyping 21211785 ACLY,ATP6V0A1,CCR10,CNP,CNTNAP1,COASY,DHX58,DNAJC7,EIF1,EZH1,FAM134C,FKBP10,GAST,GHDC,HAP1,HCRT,HSD17B1,HSPB9,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT42P,KRT9,KRTAP16-1,KRTAP17-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LOC100505782,LOC147093,MIR5010,MLX,NAGLU,NKIRAS2,NT5C3L,PLEKHH3,PSMC3IP,PTRF,RAB5C,RAMP2,RAMP2-AS1,STAT3,STAT5A,STAT5B,TTC25,TUBG1,TUBG2,ZNF385C chr17 39360337 41458716 Gain Urothelial carcinoma array CGH validated by FISH 21177765 AARSD1,ACLY,AOC2,AOC3,AOC4,ATP6V0A1,BECN1,BRCA1,CCR10,CNP,CNTD1,CNTNAP1,COA3,COASY,DHX58,DNAJC7,EIF1,EZH1,FAM134C,FKBP10,G6PC,GAST,GHDC,HAP1,HCRT,HSD17B1,HSPB9,IFI35,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT42P,KRT9,KRTAP16-1,KRTAP17-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LEPREL4,LINC00671,LOC100130581,LOC100505782,LOC147093,MIR5010,MLX,NAGLU,NBR1,NBR2,NKIRAS2,NT5C3L,PLEKHH3,PSMC3IP,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,RAB5C,RAMP2,RAMP2-AS1,RND2,RPL27,RUNDC1,STAT3,STAT5A,STAT5B,TMEM106A,TMEM106A-AS1,TTC25,TUBG1,TUBG2,VAT1,VPS25,WNK4,ZNF385C chr17 39373698 39375359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39373698 39375359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39373699 39374548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39385637 39437363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9 chr17 39385637 39437363 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9 chr17 39385637 39437363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9 chr17 39404499 40395607 LOH Normal High-resolution SNP genotyping 21211785 ACLY,CNP,DHX58,DNAJC7,EIF1,FKBP10,GAST,GHDC,HAP1,HCRT,HSPB9,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT42P,KRT9,KRTAP16-1,KRTAP17-1,KRTAP9-4,KRTAP9-9,LEPREL4,LOC100505782,LOC147093,NKIRAS2,NT5C3L,RAB5C,STAT5B,TTC25,ZNF385C chr17 39437558 39441495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39437558 39441959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39437558 39441959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39444085 39447871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39444085 39447871 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39444085 39447871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39453417 39453818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39457915 39458117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39457915 39458117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3946651 4368839 Gain Autism Exome sequencing and CGH 22495309 ANKFY1,CYB5D2,SPNS3,UBE2G1,ZZEF1 chr17 39467530 39499532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP17-1 chr17 39467530 39499532 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP17-1 chr17 39467530 39499532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP17-1 chr17 39498567 40443441 LOH Normal High-resolution SNP genotyping 21211785 ACLY,CNP,DHX58,DNAJC7,EIF1,FKBP10,GAST,GHDC,HAP1,HCRT,HSPB9,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT42P,KRT9,LEPREL4,LOC100505782,LOC147093,NKIRAS2,NT5C3L,RAB5C,STAT5A,STAT5B,TTC25,ZNF385C chr17 39503644 39509238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT33A chr17 39503644 39509238 Gain and loss Pancreatic cancer SNP array 17952125 KRT33A chr17 39503644 39509238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT33A chr17 39509647 39556512 Gain and loss Pancreatic cancer SNP array 17952125 KRT31,KRT33B,KRT34 chr17 39509647 39556540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT31,KRT33B,KRT34 chr17 39509647 39556540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT31,KRT33B,KRT34 chr17 39542001 39546000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 39546001 39740500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT13,KRT14,KRT15,KRT19,KRT31,KRT32,KRT35,KRT36,KRT37,KRT38,KRT9,LOC100505782,LOC147093 chr17 39557370 40080867 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACLY,EIF1,FKBP10,GAST,HAP1,JUP,KLHL10,KLHL11,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT32,KRT35,KRT36,KRT37,KRT38,KRT42P,KRT9,LEPREL4,LOC100505782,LOC147093,NT5C3L chr17 3956127 3956219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZZEF1 chr17 39568777 39568883 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505782 chr17 39568777 39568883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505782 chr17 39574852 39595370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT37,KRT38 chr17 39574852 39595370 Gain and loss Pancreatic cancer SNP array 17952125 KRT37,KRT38 chr17 39574852 39595370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT37,KRT38 chr17 39603600 39611977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39603600 39611977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39603600 39611977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39608877 39619608 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KRT32 chr17 39608880 39619608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT32 chr17 39608880 39619608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT32 chr17 39609377 39610345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39619880 39624624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT32 chr17 39619880 39624624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT32 chr17 39619944 39624624 Gain and loss Pancreatic cancer SNP array 17952125 KRT32 chr17 39624700 39630958 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39624700 39631055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39624700 39631055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39637928 39653762 Gain and loss Pancreatic cancer SNP array 17952125 KRT36 chr17 39637928 39653776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT36 chr17 39637928 39653776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT36 chr1 73963922 73964022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 39639758 39639814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 3964651 3964741 Gain and loss Pancreatic cancer SNP array 17952125 ZZEF1 chr17 3964651 3964741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZZEF1 chr17 39682566 39700993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT19 chr17 39682566 39700993 Gain and loss Pancreatic cancer SNP array 17952125 KRT19 chr17 39682566 39700993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT19 chr17 39723751 39724045 Gain and loss Pancreatic cancer SNP array 17952125 KRT9 chr17 39723752 39724045 Gain and loss Pancreatic cancer SNP array 17952125 KRT9 chr17 39723752 39724045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT9 chr17 39736890 39737096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39736904 39737097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39736904 39737097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39740000 39740066 Gain and loss Pancreatic cancer SNP array 17952125 KRT14 chr17 39740501 39759000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT14 chr17 39741452 39751563 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KRT14 chr17 39741490 39750763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT14 chr17 39741490 39750763 Gain and loss Pancreatic cancer SNP array 17952125 KRT14 chr17 39741490 39750763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT14 chr17 39743892 39777945 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRT16,KRT17 chr17 39752522 39757703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39752522 39757703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39752522 39757710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39759001 39781500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT16,KRT17 chr17 39778016 39785996 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 KRT17,KRT42P chr17 39778017 39785996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT17,KRT42P chr17 39778017 39785996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT17,KRT42P chr17 39778174 39785996 Gain and loss Pancreatic cancer SNP array 17952125 KRT17,KRT42P chr17 39781501 39785500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT42P chr17 39781652 42542758 Copy number gain Normal High-resolution SNP genotyping 21211785 AARSD1,ACLY,AOC2,AOC3,AOC4,ARL4D,ASB16,ATP6V0A1,ATXN7L3,BECN1,BRCA1,C17orf105,C17orf53,C17orf65,CCR10,CD300LG,CNP,CNTD1,CNTNAP1,COA3,COASY,DHX58,DHX8,DNAJC7,DUSP3,EIF1,ETV4,EZH1,FAM134C,FAM171A2,FAM215A,FKBP10,G6PC,G6PC3,GAST,GHDC,GPATCH8,GRN,HAP1,HCRT,HDAC5,HSD17B1,HSPB9,IFI35,ITGA2B,JUP,KAT2A,KCNH4,KLHL10,KLHL11,KRT42P,LEPREL4,LINC00671,LOC100130581,LSM12,MEOX1,MIR2117,MIR5010,MLX,MPP2,MPP3,NAGLU,NAGS,NBR1,NBR2,NKIRAS2,NT5C3L,PLEKHH3,PPY,PSMC3IP,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAB5C,RAMP2,RAMP2-AS1,RND2,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SOST,STAT3,STAT5A,STAT5B,TMEM101,TMEM106A,TMEM106A-AS1,TMUB2,TTC25,TUBG1,TUBG2,UBTF,VAT1,VPS25,WNK4,ZNF385C chr17 39781652 78774742 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACLY,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATP6V0A1,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CCR10,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNP,CNTD1,CNTNAP1,COA3,COASY,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX58,DHX8,DLX3,DLX4,DNAH17,DNAI2,DNAJC7,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF1,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,EZH1,FADS6,FAM100B,FAM104A,FAM117A,FAM134C,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FKBP10,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GAST,GDPD1,GFAP,GGA3,GH1,GH2,GHDC,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HAP1,HCRT,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,HSF5,HSPB9,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,JUP,KANSL1,KANSL1-AS1,KAT2A,KAT7,KCNH4,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KLHL10,KLHL11,KPNA2,KPNB1,KRT42P,LEPREL4,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5010,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MLX,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGLU,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NKIRAS2,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NT5C3L,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHH3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC3IP,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PTRH2,PYY,QRICH2,RAB37,RAB5C,RAD51C,RAMP2,RAMP2-AS1,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STAT3,STAT5A,STAT5B,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTC25,TTLL6,TTYH2,TUBD1,TUBG1,TUBG2,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF385C,ZNF652 chr17 39785501 39822500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KRT42P chr17 39786111 39796769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRT42P chr17 39786111 39796769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRT42P chr17 39786626 39796761 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KRT42P chr17 39786627 39796744 Gain and loss Pancreatic cancer SNP array 17952125 KRT42P chr17 39790237 39790307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRT42P chr17 39797908 39798105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39797908 39798601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39805076 39822399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39805076 39822399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39805076 39822399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 39807761 40897528 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1090K arrays 21546498 ACLY,ATP6V0A1,CCR10,CNP,CNTNAP1,COASY,DHX58,DNAJC7,EIF1,EZH1,FAM134C,FKBP10,GAST,GHDC,HAP1,HCRT,HSD17B1,HSPB9,JUP,KAT2A,KCNH4,KLHL10,KLHL11,LEPREL4,MIR5010,MLX,NAGLU,NKIRAS2,NT5C3L,PLEKHH3,PSMC3IP,PTRF,RAB5C,STAT3,STAT5A,STAT5B,TTC25,TUBG1,TUBG2,ZNF385C chr17 39808600 41006967 LOH Normal High-resolution SNP genotyping 21211785 ACLY,AOC2,AOC3,ATP6V0A1,BECN1,CCR10,CNP,CNTD1,CNTNAP1,COA3,COASY,DHX58,DNAJC7,EIF1,EZH1,FAM134C,FKBP10,GAST,GHDC,HAP1,HCRT,HSD17B1,HSPB9,JUP,KAT2A,KCNH4,KLHL10,KLHL11,LEPREL4,MIR5010,MLX,NAGLU,NKIRAS2,NT5C3L,PLEKHH3,PSMC3IP,PSME3,PTRF,RAB5C,RAMP2,RAMP2-AS1,STAT3,STAT5A,STAT5B,TTC25,TUBG1,TUBG2,VPS25,WNK4,ZNF385C chr17 39823609 39828177 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 39828178 39936328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF1,GAST,HAP1,JUP chr17 39828178 39936328 Gain and loss Pancreatic cancer SNP array 17952125 EIF1,GAST,HAP1,JUP chr17 39828178 39936328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF1,GAST,HAP1,JUP chr17 39841953 39842252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 39841953 39842252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 73987779 73987897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 3988918 3989416 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZZEF1 chr17 3988922 3989163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZZEF1 chr17 3988941 3989181 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ZZEF1 chr17 39925171 39925271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JUP chr17 39928401 39928481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JUP chr17 3993299 4007738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZZEF1 chr17 3993299 4007738 Gain and loss Pancreatic cancer SNP array 17952125 ZZEF1 chr17 3993299 4007738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZZEF1 chr17 39988653 40700658 LOH Normal High-resolution SNP genotyping 21211785 ACLY,ATP6V0A1,CNP,DHX58,DNAJC7,GHDC,HCRT,HSPB9,KAT2A,KCNH4,KLHL10,KLHL11,MIR5010,NAGLU,NKIRAS2,NT5C3L,PTRF,RAB5C,STAT3,STAT5A,STAT5B,TTC25,ZNF385C chr17 39990353 39992382 Gain and loss Pancreatic cancer SNP array 17952125 NT5C3L chr17 39990450 39992433 Gain or loss Breast cancer - 20668451 NT5C3L chr17 39990450 39992433 Gain or loss Cancer - 20668451 NT5C3L chr17 39990450 39992433 Gain or loss Lung cancer - 20668451 NT5C3L chr17 39990450 39992433 Gain or loss Ovarian cancer - 20668451 NT5C3L chr17 39990450 39992433 Gain or loss Pancreas cancer - 20668451 NT5C3L chr17 39990450 39992433 Gain or loss Prostate cancer - 20668451 NT5C3L chr17 39990451 39992433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NT5C3L chr17 39990451 39992433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NT5C3L chr17 39990501 39992000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NT5C3L chr17 39992001 40179500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACLY,CNP,DNAJC7,KLHL10,KLHL11,NKIRAS2,NT5C3L,TTC25,ZNF385C chr17 400000 1400000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ABR,BHLHA9,CRK,DBIL5P,FAM57A,GEMIN4,GLOD4,INPP5K,MIR3183,MYO1C,NXN,RNMTL1,TIMM22,TUSC5,VPS53,YWHAE chr17 40078305 40078484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 74008425 74772831 LOH Normal High-resolution SNP genotyping 21211785 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K chr17 40089366 40108417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC25 chr17 40089366 40108417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC25 chr17 40098012 40108406 Gain and loss Pancreatic cancer SNP array 17952125 TTC25 chr17 4010000 8200000 Loss Acute lymphoblastic leukemia - 21339820 ACADVL,ACAP1,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARRB2,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C1QBP,CAMTA2,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CXCL16,CYB5D1,CYB5D2,DERL2,DHX33,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,ENO3,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GGT6,GLTPD2,GP1BA,GPS2,GUCY2D,HES7,INCA1,KCNAB3,KCTD11,KDM6B,KIAA0753,KIF1C,LINC00324,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC728392,LSMD1,MED11,MED31,MINK1,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MPDU1,MYBBP1A,NEURL4,NLGN2,NLRP1,NUP88,PELP1,PER1,PFAS,PFN1,PHF23,PITPNM3,PLD2,PLSCR3,POLR2A,PSMB6,RABEP1,RANGRF,RNASEK,RNASEK-C17ORF49,RNF167,RPAIN,RPL29P2,SAT2,SCARNA21,SCIMP,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC52A1,SMTNL2,SNORA48,SNORA67,SNORD10,SOX15,SPAG7,SPEM1,SPNS2,SPNS3,TEKT1,TM4SF5,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,UBE2G1,USP6,VAMP2,VMO1,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 40110334 40122652 Gain and loss Pancreatic cancer SNP array 17952125 CNP,TTC25 chr17 40110334 40122673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNP,TTC25 chr17 40110334 40122673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNP,TTC25 chr17 4013414 4114023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKFY1,CYB5D2,ZZEF1 chr17 4013414 4114023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFY1,CYB5D2,ZZEF1 chr17 4013950 4114000 Gain and loss Pancreatic cancer SNP array 17952125 ANKFY1,CYB5D2,ZZEF1 chr17 40141502 40185157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC7,NKIRAS2,ZNF385C chr17 40141502 40185157 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC7,NKIRAS2,ZNF385C chr17 40141502 40185157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC7,NKIRAS2,ZNF385C chr17 40141765 40183429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC7,NKIRAS2,ZNF385C chr17 40179501 40215000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF385C chr17 40186749 40234286 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF385C chr17 40189060 40189160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385C chr17 40192094 40213504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 40192094 40214740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 40192094 40214740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 74020314 74020346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 74021840 74021940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 40231342 40263133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHX58 chr17 40231342 40263133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX58 chr17 40235928 40240778 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 40262001 40296000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHX58,HSPB9,KAT2A,RAB5C chr17 40277413 40277493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB5C chr17 40280805 40283366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB5C chr17 40280805 40283366 Gain and loss Pancreatic cancer SNP array 17952125 RAB5C chr17 40280805 40283366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB5C chr17 40283180 40327415 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 KCNH4,RAB5C chr17 40283363 40332318 Gain and loss Pancreatic cancer SNP array 17952125 KCNH4,RAB5C chr17 40283636 40283740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB5C chr17 40283805 40332289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH4,RAB5C chr17 40283805 40332289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH4,RAB5C chr17 402855 403309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 402920 403309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 40332001 40617000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V0A1,GHDC,HCRT,KCNH4,PTRF,STAT3,STAT5A,STAT5B chr17 40332633 40338284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCRT,KCNH4 chr17 40332668 40338284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HCRT,KCNH4 chr17 40332668 40338284 Gain and loss Pancreatic cancer SNP array 17952125 HCRT,KCNH4 chr17 40332668 40338284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCRT,KCNH4 chr17 40332679 40336155 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 HCRT,KCNH4 chr17 40338519 40348394 Copy number Autism exome sequencing 22495311 GHDC chr17 40338519 40348394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GHDC chr17 40338519 40348394 Gain and loss Pancreatic cancer SNP array 17952125 GHDC chr17 40338519 40348394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GHDC chr17 40342566 40348440 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GHDC chr17 40357608 40365105 Gain and loss Pancreatic cancer SNP array 17952125 STAT5B chr17 40358974 40380608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAT5B chr17 40358974 40380608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAT5B chr17 4036370 4036466 Gain and loss Pancreatic cancer SNP array 17952125 ZZEF1 chr17 4036383 4036465 Gain and loss Pancreatic cancer SNP array 17952125 ZZEF1 chr17 40365818 40369223 Gain and loss Pancreatic cancer SNP array 17952125 STAT5B chr17 40392586 40401170 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 STAT5B chr17 40392588 40401170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAT5B chr17 40392588 40401170 Gain and loss Pancreatic cancer SNP array 17952125 STAT5B chr17 40392588 40401170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAT5B chr1 74039817 74903573 LOH Normal High-resolution SNP genotyping 21211785 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K chr17 4042812 4042907 Gain and loss Pancreatic cancer SNP array 17952125 ZZEF1 chr17 4042812 4042909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZZEF1 chr17 40456232 40493912 Gain and loss Pancreatic cancer SNP array 17952125 STAT3,STAT5A chr17 40456240 40493912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAT3,STAT5A chr17 40456240 40493912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAT3,STAT5A chr17 40493711 40493811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAT3 chr17 40494206 40541903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAT3 chr17 40494206 40541903 Gain and loss Pancreatic cancer SNP array 17952125 STAT3 chr17 40494206 40541903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAT3 chr17 40497280 41090088 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 AOC2,AOC3,AOC4,ATP6V0A1,BECN1,CCR10,CNTD1,CNTNAP1,COA3,COASY,EZH1,FAM134C,G6PC,HSD17B1,LINC00671,MIR5010,MLX,NAGLU,PLEKHH3,PSMC3IP,PSME3,PTRF,RAMP2,RAMP2-AS1,STAT3,TUBG1,TUBG2,VPS25,WNK4 chr17 40504336 40504435 Gain and loss Pancreatic cancer SNP array 17952125 STAT3 chr17 40504336 40504436 Gain and loss Pancreatic cancer SNP array 17952125 STAT3 chr17 40504336 40504437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAT3 chr17 40544533 40565417 Gain or loss Breast cancer - 20668451 PTRF chr17 40544533 40565417 Gain or loss Cancer - 20668451 PTRF chr17 40544533 40565417 Gain or loss Lung cancer - 20668451 PTRF chr17 40544533 40565417 Gain or loss Ovarian cancer - 20668451 PTRF chr17 40544533 40565417 Gain or loss Pancreas cancer - 20668451 PTRF chr17 40544533 40565417 Gain or loss Prostate cancer - 20668451 PTRF chr17 40544535 40565417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTRF chr17 40544535 40565417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTRF chr17 40544544 40565407 Gain and loss Pancreatic cancer SNP array 17952125 PTRF chr17 40552637 55267073 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AARSD1,ABCC3,ABI3,ACBD4,ACSF2,ADAM11,AKAP1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATP6V0A1,ATXN7L3,B4GALNT2,BECN1,BRCA1,C17orf104,C17orf105,C17orf112,C17orf53,C17orf65,C17orf67,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CBX1,CCDC103,CCDC43,CCR10,CD300LG,CDC27,CDK5RAP3,CHAD,CNTD1,CNTNAP1,COA3,COASY,COIL,COL1A1,COPZ2,COX11,CRHR1,DBF4B,DCAKD,DGKE,DHX8,DLX3,DLX4,DUSP3,EFCAB13,EFTUD2,EME1,EPN3,ETV4,EZH1,FAM117A,FAM134C,FAM171A2,FAM215A,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC,G6PC3,GFAP,GIP,GJC1,GNGT2,GOSR2,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSD17B1,IFI35,IGF2BP1,ITGA2B,ITGA3,ITGB3,KANSL1,KANSL1-AS1,KAT7,KIF18B,KIF2B,KPNB1,LINC00671,LOC100130581,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MEOX1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR2117,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR5010,MIR5089,MLX,MMD,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MTVR2,MYCBPAP,MYL4,NAGLU,NAGS,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NSF,NSFP1,NXPH3,OSBPL7,PCTP,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHH3,PLEKHM1,PNPO,PPP1R9B,PPY,PRAC,PRR15L,PSMC3IP,PSME3,PTGES3L,PTGES3L-AARSD1,PTRF,PYY,RAMP2,RAMP2-AS1,RND2,RNF126P1,RPL27,RPRML,RSAD1,RUNDC1,RUNDC3A,SAMD14,SCPEP1,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SNF8,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STH,STXBP4,TAC4,TBKBP1,TBX21,TEX34,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMUB2,TOB1,TOB1-AS1,TOM1L1,TRIM25,TTLL6,TUBG1,TUBG2,UBE2Z,UBTF,UTP18,VAT1,VPS25,WFIKKN2,WNK4,WNT3,WNT9B,XYLT2,ZNF652 chr17 40565524 40577324 Gain and loss Pancreatic cancer SNP array 17952125 PTRF chr17 40568580 40577324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTRF chr17 40573322 40573578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTRF chr17 40578525 40605766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 40580467 40585251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 40580467 40585251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 40581652 40585246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 40594047 40603189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 40594054 40603189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 40594054 40603189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 40617001 40656000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V0A1 chr1 74065411 74110401 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 40655074 40680466 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ATP6V0A1,MIR5010 chr17 40655075 40680464 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP6V0A1,MIR5010 chr17 40655075 40680464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP6V0A1,MIR5010 chr17 40655075 40680464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP6V0A1,MIR5010 chr17 40655075 40680466 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V0A1,MIR5010 chr17 40656001 40682000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V0A1,MIR5010 chr17 40662748 40662837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP6V0A1 chr17 40673954 40674051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP6V0A1 chr17 40682001 40827500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COASY,FAM134C,HSD17B1,MLX,NAGLU,PLEKHH3,PSMC3IP,TUBG1,TUBG2 chr17 40687543 40695262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAGLU chr17 40687543 40695262 Gain and loss Pancreatic cancer SNP array 17952125 NAGLU chr17 40687543 40695262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAGLU chr17 40687543 40695266 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NAGLU chr17 40694927 40701209 Gain and loss Pancreatic cancer SNP array 17952125 NAGLU chr17 40695340 40701779 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NAGLU chr17 40696059 40696159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAGLU chr17 40696270 40750197 Gain or loss Breast cancer - 20668451 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696270 40750197 Gain or loss Cancer - 20668451 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696270 40750197 Gain or loss Lung cancer - 20668451 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696270 40750197 Gain or loss Ovarian cancer - 20668451 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696270 40750197 Gain or loss Pancreas cancer - 20668451 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696270 40750197 Gain or loss Prostate cancer - 20668451 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696271 40750197 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696271 40750197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696271 40750197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40696278 40750148 Gain and loss Pancreatic cancer SNP array 17952125 COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP chr17 40706749 40706798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSD17B1 chr17 40717316 40731832 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 COASY,FAM134C,MLX,PSMC3IP chr17 4072312 4073842 Gain and loss Pancreatic cancer SNP array 17952125 ANKFY1 chr17 40760522 40760646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM134C chr17 40760525 40760644 Gain and loss Pancreatic cancer SNP array 17952125 FAM134C chr17 40760557 40760646 Gain and loss Pancreatic cancer SNP array 17952125 FAM134C chr17 40811265 40819024 Loss Pilocytic astrocytoma Affymetrix GeneChip HG_U133A 18670637 TUBG2 chr17 40827058 40858780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCR10,CNTNAP1,EZH1,PLEKHH3 chr17 40827058 40858780 Gain and loss Pancreatic cancer SNP array 17952125 CCR10,CNTNAP1,EZH1,PLEKHH3 chr17 40827058 40858780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCR10,CNTNAP1,EZH1,PLEKHH3 chr17 40827501 40887500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCR10,CNTNAP1,EZH1,PLEKHH3 chr17 40834631 40852011 Loss Pilocytic astrocytoma Affymetrix GeneChip HG_U133A 18670637 CNTNAP1 chr1 74085020 74085270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 4085757 4118144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKFY1 chr17 40862502 40866902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EZH1 chr17 40862502 40866902 Gain and loss Pancreatic cancer SNP array 17952125 EZH1 chr17 40862502 40866902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EZH1 chr17 40869050 40923893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EZH1,RAMP2,RAMP2-AS1 chr17 40869050 40923893 Gain and loss Pancreatic cancer SNP array 17952125 EZH1,RAMP2,RAMP2-AS1 chr17 40869050 40923893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EZH1,RAMP2,RAMP2-AS1 chr17 40875832 40916789 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 EZH1,RAMP2,RAMP2-AS1 chr17 40887501 40933500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EZH1,RAMP2,RAMP2-AS1,VPS25,WNK4 chr17 40897528 46094850 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1091K arrays 21546498 AARSD1,ACBD4,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATXN7L3,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CDC27,CDK5RAP3,CNTD1,COA3,CRHR1,DBF4B,DCAKD,DHX8,DUSP3,EFCAB13,EFTUD2,ETV4,FAM171A2,FAM215A,FMNL1,FZD2,G6PC,G6PC3,GFAP,GJC1,GOSR2,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,IFI35,ITGA2B,ITGB3,KANSL1,KANSL1-AS1,KIF18B,KPNB1,LINC00671,LOC100130581,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC46,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MEOX1,MGC57346,MIR2117,MIR4315-1,MIR4315-2,MIR5089,MPP2,MPP3,MRPL10,MRPL45P2,MYL4,NAGS,NBR1,NBR2,NMT1,NPEPPS,NSF,NSFP1,OSBPL7,PLCD3,PLEKHM1,PNPO,PPY,PRR15L,PSME3,PTGES3L,PTGES3L-AARSD1,PYY,RAMP2,RAMP2-AS1,RND2,RPL27,RPRML,RUNDC1,RUNDC3A,SCRN2,SLC25A39,SLC4A1,SOST,SP2,SP6,SPPL2C,STH,TBKBP1,TBX21,TEX34,TMEM101,TMEM106A,TMEM106A-AS1,TMUB2,UBTF,VAT1,VPS25,WNK4,WNT3,WNT9B chr17 40900000 44900000 Copy number Neuroticism SNP array 17667963 AARSD1,ACBD4,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATXN7L3,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CNTD1,COA3,CRHR1,DBF4B,DCAKD,DHX8,DUSP3,EFTUD2,ETV4,FAM171A2,FAM215A,FMNL1,FZD2,G6PC,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,IFI35,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LINC00671,LOC100130581,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MEOX1,MGC57346,MIR2117,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NBR1,NBR2,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PSME3,PTGES3L,PTGES3L-AARSD1,PYY,RAMP2,RAMP2-AS1,RND2,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SOST,SPPL2C,STH,TEX34,TMEM101,TMEM106A,TMEM106A-AS1,TMUB2,UBTF,VAT1,VPS25,WNK4,WNT3 chr17 40900000 44900000 Copy number Prostate cancer 250K Sty SNP Array 19156837 AARSD1,ACBD4,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATXN7L3,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CNTD1,COA3,CRHR1,DBF4B,DCAKD,DHX8,DUSP3,EFTUD2,ETV4,FAM171A2,FAM215A,FMNL1,FZD2,G6PC,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,IFI35,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LINC00671,LOC100130581,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MEOX1,MGC57346,MIR2117,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NBR1,NBR2,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PSME3,PTGES3L,PTGES3L-AARSD1,PYY,RAMP2,RAMP2-AS1,RND2,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SOST,SPPL2C,STH,TEX34,TMEM101,TMEM106A,TMEM106A-AS1,TMUB2,UBTF,VAT1,VPS25,WNK4,WNT3 chr17 40900000 44900000 Gain Williams-beuren syndrome Affymetrix GeneChip Human Mapping NspI Array 18553513 AARSD1,ACBD4,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATXN7L3,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CNTD1,COA3,CRHR1,DBF4B,DCAKD,DHX8,DUSP3,EFTUD2,ETV4,FAM171A2,FAM215A,FMNL1,FZD2,G6PC,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,IFI35,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LINC00671,LOC100130581,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MEOX1,MGC57346,MIR2117,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NBR1,NBR2,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PSME3,PTGES3L,PTGES3L-AARSD1,PYY,RAMP2,RAMP2-AS1,RND2,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SOST,SPPL2C,STH,TEX34,TMEM101,TMEM106A,TMEM106A-AS1,TMUB2,UBTF,VAT1,VPS25,WNK4,WNT3 chr17 40900000 44900000 Loss Mental retardation Array CGH 17847001 AARSD1,ACBD4,ADAM11,AOC2,AOC3,AOC4,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATXN7L3,BECN1,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CNTD1,COA3,CRHR1,DBF4B,DCAKD,DHX8,DUSP3,EFTUD2,ETV4,FAM171A2,FAM215A,FMNL1,FZD2,G6PC,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,IFI35,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LINC00671,LOC100130581,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MEOX1,MGC57346,MIR2117,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NBR1,NBR2,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PSME3,PTGES3L,PTGES3L-AARSD1,PYY,RAMP2,RAMP2-AS1,RND2,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SOST,SPPL2C,STH,TEX34,TMEM101,TMEM106A,TMEM106A-AS1,TMUB2,UBTF,VAT1,VPS25,WNK4,WNT3 chr17 40926009 41015758 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AOC2,AOC3,BECN1,CNTD1,COA3,PSME3,VPS25,WNK4 chr17 40926182 41031220 Loss or gain Normal 244K array 17666407 AOC2,AOC3,AOC4,BECN1,CNTD1,COA3,LINC00671,PSME3,VPS25,WNK4 chr17 40927933 41058228 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 AOC2,AOC3,AOC4,BECN1,CNTD1,COA3,G6PC,LINC00671,PSME3,VPS25,WNK4 chr17 40929636 40950911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTD1,COA3,VPS25,WNK4 chr17 40930407 78774742 Copy number Biliary cancer Agilent CGH platform 20360734 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNTD1,COA3,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 40930407 78774742 Copy number Breast cancer Agilent CGH platform 20360734 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNTD1,COA3,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 40930407 78774742 Copy number Coronary artery disease Agilent CGH platform 20360734 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNTD1,COA3,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 40930407 78774742 Copy number Crohn's disease Agilent CGH platform 20360734 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNTD1,COA3,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 40930407 78774742 Copy number Hypertension Agilent CGH platform 20360734 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNTD1,COA3,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 40930407 78774742 Copy number Rheumatoid arthritis Agilent CGH platform 20360734 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNTD1,COA3,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 40930407 78774742 Copy number Type 1 diabetes Agilent CGH platform 20360734 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNTD1,COA3,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 40930407 78774742 Copy number Type 2 diabetes Agilent CGH platform 20360734 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,AOC2,AOC3,AOC4,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BECN1,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,CNTD1,COA3,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00671,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PSME3,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,VPS25,WBP2,WFIKKN2,WIPI1,WNK4,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 40933483 40938062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WNK4 chr17 40933501 40935000 Copy number Normal ReadDepth: A Parallel R Package 21305028 WNK4 chr17 40934468 40951047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTD1,COA3,WNK4 chr17 40935001 40942000 Copy number Normal ReadDepth: A Parallel R Package 21305028 WNK4 chr17 40936077 41045630 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AOC2,AOC3,AOC4,BECN1,CNTD1,COA3,LINC00671,PSME3,WNK4 chr17 40936493 40967414 Gain and loss Pancreatic cancer SNP array 17952125 BECN1,CNTD1,COA3,WNK4 chr17 40936493 40967414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BECN1,CNTD1,COA3,WNK4 chr17 40937033 41051063 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AOC2,AOC3,AOC4,BECN1,CNTD1,COA3,LINC00671,PSME3,WNK4 chr17 40938272 40954479 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTD1,COA3,WNK4 chr17 40938388 40941745 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 WNK4 chr17 40939356 40960275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTD1,COA3,WNK4 chr17 40939892 40948305 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 WNK4 chr17 40939895 40948305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNK4 chr17 40939895 40948305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNK4 chr17 40940284 40956392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTD1,COA3,WNK4 chr17 40941539 41004287 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AOC2,AOC3,BECN1,CNTD1,COA3,PSME3,WNK4 chr17 40941539 41004287 Loss Normal Birdsuite, version 1.5.2 22087296 AOC2,AOC3,BECN1,CNTD1,COA3,PSME3,WNK4 chr17 40941646 40947944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WNK4 chr17 40942001 41177000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AARSD1,AOC2,AOC3,AOC4,BECN1,CNTD1,COA3,G6PC,IFI35,LINC00671,PSME3,PTGES3L,PTGES3L-AARSD1,RPL27,RUNDC1,VAT1,WNK4 chr17 40947586 40980552 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 BECN1,CNTD1,COA3,WNK4 chr17 40947799 40951801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTD1,COA3,WNK4 chr17 40949958 40972940 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BECN1,CNTD1,COA3 chr17 40950280 40970427 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BECN1,CNTD1,COA3 chr17 40952048 40962797 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BECN1,CNTD1 chr17 40952212 40973216 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BECN1,CNTD1 chr17 40959601 40959895 Gain and loss Pancreatic cancer SNP array 17952125 CNTD1 chr17 40959603 40959895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTD1 chr17 40959616 40959891 Gain and loss Pancreatic cancer SNP array 17952125 CNTD1 chr17 40961218 41036766 Copy number Lung cancer paired-end sequencing 18438408 AOC2,AOC3,AOC4,BECN1,CNTD1,LINC00671,PSME3 chr17 40973796 41019235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AOC2,AOC3,AOC4,BECN1,PSME3 chr17 40977732 41171794 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 AARSD1,AOC2,AOC3,AOC4,G6PC,IFI35,LINC00671,PSME3,PTGES3L,PTGES3L-AARSD1,RPL27,RUNDC1,VAT1 chr17 40977732 41171794 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AARSD1,AOC2,AOC3,AOC4,G6PC,IFI35,LINC00671,PSME3,PTGES3L,PTGES3L-AARSD1,RPL27,RUNDC1,VAT1 chr17 40981517 41020603 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 AOC2,AOC3,AOC4,PSME3 chr17 40987063 41061004 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 AOC2,AOC3,AOC4,G6PC,LINC00671,PSME3 chr17 40988249 41565982 Copy number Normal - 21701786 AARSD1,AOC2,AOC3,AOC4,ARL4D,BRCA1,DHX8,G6PC,IFI35,LINC00671,LOC100130581,MIR2117,NBR1,NBR2,PSME3,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41001676 41015758 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AOC2,AOC3 chr17 41001676 41020476 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AOC2,AOC3,AOC4 chr17 41006741 41015665 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 AOC3 chr17 41006741 41015665 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 AOC3 chr17 41006741 41015665 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AOC3 chr17 41006741 41015665 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AOC3 chr17 41006741 41015665 Gain or loss Normal Birdsuite, version 1.5.2 22087296 AOC3 chr17 41006823 41011471 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 AOC3 chr17 41006823 41015120 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 AOC3 chr17 41006823 41015664 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 AOC3 chr17 41006823 41711411 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 AARSD1,AOC3,AOC4,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LINC00671,LOC100130581,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41006967 41015650 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AOC3 chr17 41006967 41015650 Copy number gain Normal High-resolution SNP genotyping 21211785 AOC3 chr17 41006967 41029570 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AOC3,AOC4,LINC00671 chr17 41006967 41029570 Copy number gain Normal High-resolution SNP genotyping 21211785 AOC3,AOC4,LINC00671 chr17 41006967 41043151 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AOC3,AOC4,LINC00671 chr17 41006967 41043151 Copy number gain Normal High-resolution SNP genotyping 21211785 AOC3,AOC4,LINC00671 chr17 41006967 41048240 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AOC3,AOC4,LINC00671 chr17 41006967 41048240 Copy number gain Normal High-resolution SNP genotyping 21211785 AOC3,AOC4,LINC00671 chr17 41011471 41012856 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr17 41015650 41711850 LOH Normal High-resolution SNP genotyping 21211785 AARSD1,AOC4,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LINC00671,LOC100130581,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41015650 42222620 LOH Normal High-resolution SNP genotyping 21211785 AARSD1,AOC4,ARL4D,BRCA1,C17orf105,C17orf53,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC,G6PC3,HDAC5,IFI35,LINC00671,LOC100130581,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,NBR1,NBR2,PPY,PTGES3L,PTGES3L-AARSD1,PYY,RND2,RPL27,RUNDC1,SOST,TMEM101,TMEM106A,TMEM106A-AS1,VAT1 chr17 41015650 43234795 LOH Normal High-resolution SNP genotyping 21211785 AARSD1,ACBD4,ADAM11,AOC4,ARL4D,ASB16,ATXN7L3,BRCA1,C17orf104,C17orf105,C17orf53,C17orf65,C1QL1,CCDC103,CCDC43,CD300LG,DBF4B,DCAKD,DHX8,DUSP3,EFTUD2,ETV4,FAM171A2,FAM215A,FZD2,G6PC,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HIGD1B,IFI35,ITGA2B,KIF18B,LINC00671,LOC100130581,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,NBR1,NBR2,NMT1,PLCD3,PPY,PTGES3L,PTGES3L-AARSD1,PYY,RND2,RPL27,RUNDC1,RUNDC3A,SLC25A39,SLC4A1,SOST,TMEM101,TMEM106A,TMEM106A-AS1,TMUB2,UBTF,VAT1 chr17 41015665 41022689 Loss Normal Birdsuite, version 1.5.2 22087296 AOC4 chr17 41019020 41020078 Gain and loss Pancreatic cancer SNP array 17952125 AOC4 chr17 41019020 41020078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOC4 chr17 41024818 41064448 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 G6PC,LINC00671 chr1 74102519 74102619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 41025629 41058131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 G6PC,LINC00671 chr17 41029570 42222620 LOH Normal High-resolution SNP genotyping 21211785 AARSD1,ARL4D,BRCA1,C17orf105,C17orf53,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC,G6PC3,HDAC5,IFI35,LINC00671,LOC100130581,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,NBR1,NBR2,PPY,PTGES3L,PTGES3L-AARSD1,PYY,RND2,RPL27,RUNDC1,SOST,TMEM101,TMEM106A,TMEM106A-AS1,VAT1 chr17 41033278 41035531 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 LINC00671 chr17 41034018 41035489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00671 chr17 41034018 41035489 Gain and loss Pancreatic cancer SNP array 17952125 LINC00671 chr17 41034018 41035489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00671 chr17 41041705 41042134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00671 chr17 41048240 42222620 LOH Normal High-resolution SNP genotyping 21211785 AARSD1,ARL4D,BRCA1,C17orf105,C17orf53,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC,G6PC3,HDAC5,IFI35,LINC00671,LOC100130581,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,NBR1,NBR2,PPY,PTGES3L,PTGES3L-AARSD1,PYY,RND2,RPL27,RUNDC1,SOST,TMEM101,TMEM106A,TMEM106A-AS1,VAT1 chr17 41053494 41071110 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 G6PC chr17 41062469 41719833 Deletion Craniosynostosis - 20877625 AARSD1,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LOC100130581,MEOX1,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41062469 41719833 Deletion Hypotonia - 20877625 AARSD1,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LOC100130581,MEOX1,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41062469 41719833 Deletion Mental retardation - 20877625 AARSD1,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LOC100130581,MEOX1,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41062469 41719833 Deletion Mental retardation FISH Pos 20877625 AARSD1,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LOC100130581,MEOX1,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41062469 41719833 Deletion Palpebral fissures - 20877625 AARSD1,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LOC100130581,MEOX1,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41062469 41719833 Deletion retrognathia - 20877625 AARSD1,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LOC100130581,MEOX1,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41062469 41719833 Deletion unilateral cryptorchidism - 20877625 AARSD1,ARL4D,BRCA1,DHX8,ETV4,G6PC,IFI35,LOC100130581,MEOX1,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41065198 42155230 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AARSD1,ARL4D,BRCA1,C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC,G6PC3,HDAC5,IFI35,LOC100130581,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,NBR1,NBR2,PPY,PTGES3L,PTGES3L-AARSD1,PYY,RND2,RPL27,RUNDC1,SOST,TMEM101,TMEM106A,TMEM106A-AS1,VAT1 chr17 41065198 42233432 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AARSD1,ARL4D,BRCA1,C17orf105,C17orf53,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC,G6PC3,HDAC5,IFI35,LOC100130581,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,NBR1,NBR2,PPY,PTGES3L,PTGES3L-AARSD1,PYY,RND2,RPL27,RUNDC1,SOST,TMEM101,TMEM106A,TMEM106A-AS1,VAT1 chr17 41065963 41505032 Insertion Frontotemporal lobar degeneration Genescan 3.7 Software,quantitative multiplex PCR of short fluorescent fragments,high resolution array CGH,Human High Resolution Discovery Microarray Kit 1x1M 20634582 AARSD1,ARL4D,BRCA1,G6PC,IFI35,LOC100130581,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41065963 41505032 Insertion Frontotemporal lobar degeneration Genescan 3.7 Software,quantitative multiplex PCR of short fluorescent fragments,high resolution array CGH,Human High Resolution Discovery Microarray Kit 1x2M 20634582 AARSD1,ARL4D,BRCA1,G6PC,IFI35,LOC100130581,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41065963 41505032 Insertion Frontotemporal lobar degeneration Genescan 3.7 Software,quantitative multiplex PCR of short fluorescent fragments,high resolution array CGH,Human High Resolution Discovery Microarray Kit 1x3M 20634582 AARSD1,ARL4D,BRCA1,G6PC,IFI35,LOC100130581,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41065963 41505032 Insertion Frontotemporal lobar degeneration Genescan 3.7 Software,quantitative multiplex PCR of short fluorescent fragments,high resolution array CGH,Human High Resolution Discovery Microarray Kit 1x4M 20634582 AARSD1,ARL4D,BRCA1,G6PC,IFI35,LOC100130581,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41069088 41513448 Copy number Lung cancer paired-end sequencing 18438408 AARSD1,ARL4D,BRCA1,IFI35,LOC100130581,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41069421 41069945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41073731 41075005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 41073731 41075005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41100000 78180000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AANAT,AARSD1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTGES3L,PTGES3L-AARSD1,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF43,RNFT1,RPL27,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 41107486 41610161 Microdeletion Non-syndromic sensorineural hearing loss FISH 21084979 AARSD1,ARL4D,BRCA1,DHX8,ETV4,IFI35,LOC100130581,MIR2117,NBR1,NBR2,PTGES3L,PTGES3L-AARSD1,RND2,RPL27,RUNDC1,TMEM106A,TMEM106A-AS1,VAT1 chr17 41108265 41108315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AARSD1,PTGES3L-AARSD1 chr17 41118038 41173230 Indels Normal Affymetrix and Illumina arrays 20811451 IFI35,PTGES3L,PTGES3L-AARSD1,RPL27,RUNDC1,VAT1 chr17 41155833 41190993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IFI35,RND2,VAT1 chr17 41159000 78182000 Amplification Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF43,RNFT1,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 41159000 78182000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF43,RNFT1,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 41159000 78182000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BIRC5,BPTF,BRCA1,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD300LG,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DHX8,DLX3,DLX4,DNAH17,DNAI2,DUSP3,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENGASE,ENPP7,EPN3,EPX,ERN1,ETV4,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FAM215A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IFI35,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100130581,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,MEOX1,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MPP2,MPP3,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAGS,NAT9,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTRH2,PYY,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RND2,RNF126P1,RNF157,RNF157-AS1,RNF43,RNFT1,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOST,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM106A,TMEM106A-AS1,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VAT1,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 41177001 41252500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRCA1,RND2 chr17 41186492 41186615 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 4119261 4216718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKFY1,UBE2G1 chr17 4119261 4216718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFY1,UBE2G1 chr17 41196312 41322420 Copy number Cancer Affymetrix GeneChip Genome Wide Human SNP array 6.0 22207351 BRCA1,NBR2 chr17 41200740 41201249 Deletion Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA1 chr17 41200740 41201249 Deletion Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA1 chr17 4120877 4216722 Gain and loss Pancreatic cancer SNP array 17952125 ANKFY1,UBE2G1 chr17 41209080 41209081 Insertion Breast cancer - 20616022 BRCA1 chr17 41212860 60108628 Deletion Acute myeloid leukemia - 21251322 ABCC3,ABI3,ACBD4,ACSF2,ADAM11,AKAP1,ANKFN1,ANKRD40,APPBP2,ARHGAP27,ARL17A,ARL17B,ARL4D,ASB16,ATP5G1,ATXN7L3,B4GALNT2,BCAS3,BRCA1,BRIP1,BZRAP1,BZRAP1-AS1,C17orf104,C17orf105,C17orf112,C17orf47,C17orf53,C17orf64,C17orf65,C17orf67,C17orf69,C17orf82,C1QL1,CA10,CA4,CACNA1G,CACNA1G-AS1,CALCOCO2,CBX1,CCDC103,CCDC43,CD300LG,CDC27,CDK5RAP3,CHAD,CLTC,COIL,COL1A1,COPZ2,COX11,CRHR1,CUEDC1,DBF4B,DCAKD,DGKE,DHX40,DHX8,DLX3,DLX4,DUSP3,DYNLL2,EFCAB13,EFTUD2,EME1,EPN3,EPX,ETV4,FAM117A,FAM171A2,FAM215A,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC3,GDPD1,GFAP,GIP,GJC1,GNGT2,GOSR2,GPATCH8,GRN,HDAC5,HEATR6,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,KANSL1,KANSL1-AS1,KAT7,KIF18B,KIF2B,KPNB1,LOC100130581,LOC284080,LOC644172,LOC645638,LOC653653,LPO,LRRC37A,LRRC37A2,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MED13,MEOX1,MGC57346,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR2117,MIR301A,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR454,MIR4729,MIR4736,MIR4737,MIR5089,MKS1,MMD,MPO,MPP2,MPP3,MRPL10,MRPL27,MRPL45P2,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,NACA2,NAGS,NBR1,NBR2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NPEPPS,NSF,NSFP1,NXPH3,OR4D1,OR4D2,OSBPL7,PCTP,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHM1,PNPO,PPM1D,PPM1E,PPP1R9B,PPY,PRAC,PRR11,PRR15L,PTRH2,PYY,RAD51C,RNF126P1,RNF43,RNFT1,RPRML,RPS6KB1,RSAD1,RUNDC3A,SAMD14,SCARNA20,SCPEP1,SCRN2,SEPT4,SGCA,SKA2,SKAP1,SLC25A39,SLC35B1,SLC4A1,SMG8,SNF8,SNX11,SOST,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,SRSF1,STH,STXBP4,SUPT4H1,TAC4,TBC1D3P1-DHX40P1,TBKBP1,TBX2,TBX21,TBX4,TEX14,TEX34,TMEM100,TMEM101,TMEM106A,TMEM106A-AS1,TMEM92,TMUB2,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TTLL6,TUBD1,UBE2Z,UBTF,USP32,UTP18,VEZF1,VMP1,WFIKKN2,WNT3,WNT9B,XYLT2,YPEL2,ZNF652 chr17 41214000 41218359 Duplication Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA1 chr17 41214000 41218359 Duplication Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA1 chr17 41216787 41216862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRCA1 chr17 41217448 41268973 Copy number Lung cancer - 20668451 BRCA1 chr17 41217448 41268973 Gain or loss Breast cancer - 20668451 BRCA1 chr17 41217448 41268973 Gain or loss Cancer - 20668451 BRCA1 chr17 41217448 41268973 Gain or loss Lung cancer - 20668451 BRCA1 chr17 41217448 41268973 Gain or loss Ovarian cancer - 20668451 BRCA1 chr17 41217448 41268973 Gain or loss Pancreas cancer - 20668451 BRCA1 chr17 41217448 41268973 Gain or loss Prostate cancer - 20668451 BRCA1 chr17 41217449 41268973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRCA1 chr17 41217449 41268973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRCA1 chr17 41219555 41219794 Duplication Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA1 chr17 41219555 41219794 Duplication Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA1 chr17 41222949 41222968 Deletion Breast cancer - 20616022 BRCA1 chr17 41228596 41228597 Deletion-insertion Breast cancer - 20616022 BRCA1 chr17 41230471 41235875 Duplication Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA1 chr17 41230471 41235875 Duplication Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 BRCA1 chr17 41240150 41267911 Gain and loss Pancreatic cancer SNP array 17952125 BRCA1 chr17 41252501 41285000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRCA1,NBR2 chr17 41277026 41327933 Gain and loss Pancreatic cancer SNP array 17952125 BRCA1,NBR1,NBR2 chr17 41278034 41280216 Gain and loss Pancreatic cancer SNP array 17952125 NBR2 chr17 41278037 41280212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBR2 chr17 41278037 41280212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBR2 chr17 41280849 41285026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NBR2 chr17 41285001 41328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NBR1,NBR2 chr17 4131817 4131888 Gain and loss Pancreatic cancer SNP array 17952125 ANKFY1 chr17 4131817 4131888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFY1 chr1 74132011 74709040 LOH Normal High-resolution SNP genotyping 21211785 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K chr17 41327543 41461546 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LOC100130581,NBR1,TMEM106A,TMEM106A-AS1 chr17 41327543 41461546 Microdeletion Intellectual disability Western blot 22194194 LOC100130581,NBR1,TMEM106A,TMEM106A-AS1 chr17 41327624 41461547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130581,NBR1,TMEM106A,TMEM106A-AS1 chr17 41327624 41461547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130581,NBR1,TMEM106A,TMEM106A-AS1 chr17 41328001 41331000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NBR1 chr17 41329190 41331653 Gain and loss Pancreatic cancer SNP array 17952125 NBR1 chr17 41331001 41461000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100130581,NBR1,TMEM106A,TMEM106A-AS1 chr17 41373542 41373642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM106A-AS1 chr17 41392042 41458611 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130581 chr17 41427543 41462421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100130581 chr17 41432483 41432869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 41439751 41734030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARL4D,DHX8,ETV4,LOC100130581,MEOX1,MIR2117 chr17 41439751 41843177 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARL4D,DHX8,ETV4,LOC100130581,MEOX1,MIR2117,SOST chr17 41439751 41958405 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARL4D,C17orf105,CD300LG,DHX8,DUSP3,ETV4,LOC100130581,MEOX1,MIR2117,MPP2,MPP3,SOST chr17 41439751 42061631 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARL4D,C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,LOC100130581,MEOX1,MIR2117,MPP2,MPP3,PPY,PYY,SOST chr17 41439751 42268630 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARL4D,ASB16,C17orf105,C17orf53,C17orf65,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC3,HDAC5,LOC100130581,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101,TMUB2 chr17 41439751 42632332 Multiallelic Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ARL4D,ASB16,ATXN7L3,C17orf105,C17orf53,C17orf65,CD300LG,DHX8,DUSP3,ETV4,FAM171A2,FAM215A,G6PC3,GPATCH8,GRN,HDAC5,ITGA2B,LOC100130581,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,SOST,TMEM101,TMUB2,UBTF chr17 41442561 41442798 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 41458670 41700670 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ARL4D,DHX8,ETV4,LOC100130581,MIR2117 chr17 41461001 41465500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100130581 chr17 41463128 41605371 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ARL4D,DHX8,ETV4,LOC100130581,MIR2117 chr17 41463181 41625943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL4D,DHX8,ETV4,LOC100130581,MIR2117 chr17 41463181 41625943 Gain and loss Pancreatic cancer SNP array 17952125 ARL4D,DHX8,ETV4,LOC100130581,MIR2117 chr17 41463181 41625943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL4D,DHX8,ETV4,LOC100130581,MIR2117 chr17 41467598 41498847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARL4D chr17 41484033 42140850 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41486933 41486979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 41500000 42000000 Copy number Cognitive impairment - 21505072 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MIR2117,MPP2,MPP3,SOST chr17 41509340 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41509340 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41511888 41709662 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41511888 41709662 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41511888 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41511888 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41513294 41756820 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41516464 42133114 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41517674 41709662 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41518102 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41518102 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41518102 41719935 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4,MEOX1,MIR2117 chr17 41518251 42049569 Loss or gain Normal 244K array 17666407 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MIR2117,MPP2,MPP3,PPY,PYY,SOST chr17 41518415 41709662 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41518415 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41518415 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41518415 41832098 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DHX8,ETV4,MEOX1,MIR2117,SOST chr17 41518904 41632325 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41518904 41648520 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41518904 41651599 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41518904 41717774 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41518904 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41518916 41708649 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DHX8,ETV4,MIR2117 chr17 41519537 41734024 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 DHX8,ETV4,MEOX1,MIR2117 chr17 41519685 41711850 Copy number gain Normal High-resolution SNP genotyping 21211785 DHX8,ETV4,MIR2117 chr17 41519685 41714284 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DHX8,ETV4,MIR2117 chr17 41519685 41714284 Copy number gain Normal High-resolution SNP genotyping 21211785 DHX8,ETV4,MIR2117 chr17 41519685 41933777 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C17orf105,CD300LG,DHX8,DUSP3,ETV4,MEOX1,MIR2117,MPP3,SOST chr17 41519685 41933777 Copy number gain Normal High-resolution SNP genotyping 21211785 C17orf105,CD300LG,DHX8,DUSP3,ETV4,MEOX1,MIR2117,MPP3,SOST chr17 41520682 41706515 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DHX8,ETV4,MIR2117 chr17 41520682 41706515 Copy number gain Normal High-resolution SNP genotyping 21211785 DHX8,ETV4,MIR2117 chr17 41521057 42155415 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC3,HDAC5,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41521114 41789790 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 DHX8,ETV4,MEOX1,MIR2117 chr17 41521344 41566740 Duplication Oligozoospermia Array-CGH 20877625 DHX8,MIR2117 chr17 41521344 41566740 Duplication Sertoli-cell only syndrome Array-CGH 20877625 DHX8,MIR2117 chr17 41521344 42143248 Copy number Incontinentia Pigmenti Agilent SurePrint G16 one Million microarrays 22033527 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,LSM12,MEOX1,MIR2117,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41521501 41684500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHX8,ETV4,MIR2117 chr17 41521619 41719991 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DHX8,ETV4,MEOX1,MIR2117 chr17 41521619 41719991 Gain Normal Birdsuite, version 1.5.2 22087296 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41632325 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41521621 41632325 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41521621 41644356 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41521621 41651599 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41521621 41651599 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41521621 41700920 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41521621 41703504 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DHX8,ETV4,MIR2117 chr17 41521621 41709662 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41521621 41709662 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41521621 41717774 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41717774 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41719833 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41719833 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41719935 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41719991 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41750183 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41750183 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41756820 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41521621 41832098 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DHX8,ETV4,MEOX1,MIR2117,SOST chr17 41521621 42107467 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MIR2117,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41522088 41708649 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DHX8,ETV4,MIR2117 chr17 41522088 41709662 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MIR2117 chr17 41522088 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1,MIR2117 chr17 41522227 42107492 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MIR2117,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41522402 42154117 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC3,LSM12,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41522422 41719991 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DHX8,ETV4,MEOX1 chr17 41523027 41533258 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr17 41525524 41933777 Copy number gain Normal High-resolution SNP genotyping 21211785 C17orf105,CD300LG,DHX8,DUSP3,ETV4,MEOX1,MPP3,SOST chr17 41528446 41924261 Copy number Lung cancer paired-end sequencing 18438408 C17orf105,DHX8,DUSP3,ETV4,MEOX1,MPP3,SOST chr17 41530000 42040000 Copy number Cognitive impairment - 21505072 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,PPY,PYY,SOST chr17 41532208 41532530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 41532785 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41532785 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41532916 41707706 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DHX8,ETV4 chr17 41533259 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41536766 41708649 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DHX8,ETV4 chr17 41536766 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41536766 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41536766 41750183 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41543275 41553923 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 41544224 41706870 Duplication Rett syndrome References 21593744 DHX8,ETV4 chr17 41546454 41623467 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41553381 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41557154 41700920 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4 chr17 41557154 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41557154 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41557154 41750183 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41557154 41756820 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41558942 41559942 Loss Osteosarcoma References 21215367 NOT_FOUND chr17 41559185 41734030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DHX8,ETV4,MEOX1 chr17 41559185 41843177 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DHX8,ETV4,MEOX1,SOST chr17 41559185 41958405 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf105,CD300LG,DHX8,DUSP3,ETV4,MEOX1,MPP2,MPP3,SOST chr17 41559185 42061631 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,PPY,PYY,SOST chr17 41559185 42268630 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB16,C17orf105,C17orf53,C17orf65,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC3,HDAC5,LSM12,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101,TMUB2 chr17 41559185 42632332 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB16,ATXN7L3,C17orf105,C17orf53,C17orf65,CD300LG,DHX8,DUSP3,ETV4,FAM171A2,FAM215A,G6PC3,GPATCH8,GRN,HDAC5,ITGA2B,LSM12,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,SOST,TMEM101,TMUB2,UBTF chr17 41560151 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41560151 42107467 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41563921 41708649 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4 chr17 41563921 41708649 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4 chr17 41563921 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41563921 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41563921 42033296 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,PPY,PYY,SOST chr17 41564451 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41564451 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41564451 41750183 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41564451 41764423 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41564451 41987366 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C17orf105,CD300LG,DHX8,DUSP3,ETV4,MEOX1,MPP2,MPP3,SOST chr17 41564451 41995946 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,SOST chr17 41568592 41626007 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DHX8,ETV4 chr17 41568981 41623640 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41568981 41750183 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41569489 41708649 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 DHX8,ETV4 chr17 41569489 41709662 Amplification Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 DHX8,ETV4 chr17 41569931 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 4157041 4326327 Gain Normal Birdsuite, version 1.5.2 22087296 ANKFY1,UBE2G1 chr17 41570665 41707706 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4 chr17 41570665 41708649 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4 chr17 41570665 41708649 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4 chr17 41570665 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41570665 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41570665 41750177 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41570665 41750183 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41570665 41750183 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41570665 41756820 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41570665 41756820 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41570665 41832098 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DHX8,ETV4,MEOX1,SOST chr17 41570665 41913048 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C17orf105,DHX8,DUSP3,ETV4,MEOX1,MPP3,SOST chr17 41570665 41995946 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,SOST chr17 41570665 42020975 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,PPY,SOST chr17 41570665 42061279 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,PPY,PYY,SOST chr17 41570665 42099176 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41570665 42107467 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41570665 42107467 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41570665 42120174 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,LSM12,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41570859 41650470 Amplification or deletion Cancer Array CGH 17440070 DHX8,ETV4 chr17 41572068 42268630 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB16,C17orf105,C17orf53,C17orf65,CD300LG,DHX8,DUSP3,ETV4,FAM215A,G6PC3,HDAC5,LSM12,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101,TMUB2 chr17 41572099 41708649 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 DHX8,ETV4 chr17 41575332 41597441 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8 chr17 41575332 41602941 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8 chr17 41575332 41610271 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41575332 41619846 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41575332 41621799 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41575332 41623467 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41575332 41623640 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41575332 41632325 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41575332 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41575332 42015510 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,SOST chr17 41575332 42107467 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41577915 41602941 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8 chr17 41577915 41632325 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41579685 41579998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DHX8 chr17 41580310 41592845 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8 chr17 41580310 41602941 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8 chr17 41580310 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41580310 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41581088 41708649 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4 chr17 41581088 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41581088 42107467 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DHX8,DUSP3,ETV4,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41581530 41602941 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8 chr17 41581530 41610271 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41581530 41627777 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DHX8,ETV4 chr17 41587072 41597441 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DHX8 chr17 41587103 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41587103 41719935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DHX8,ETV4,MEOX1 chr17 41602774 41610190 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ETV4 chr17 41618727 41719935 Duplication Normal Affymetrix 6.0 microarrays 20967226 ETV4,MEOX1 chr17 41624471 41624530 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr17 41626716 41627083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41626903 41724649 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MEOX1 chr17 41648213 41648314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41648215 41648314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 41659025 41699345 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NOT_FOUND chr17 41676893 41678190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 41677240 41678190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41677240 41678190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41692501 41693500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 41692691 41693749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41692691 41693749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 41692691 41693749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41693501 41725000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEOX1 chr17 41700624 42107467 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41700624 42107467 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C17orf105,CD300LG,DUSP3,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41714303 41922542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf105,DUSP3,MEOX1,MPP3,SOST chr17 41717774 42107467 Deletion Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41717774 42107467 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41719640 41794865 Gain and loss Pancreatic cancer SNP array 17952125 MEOX1 chr17 41719640 41794865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEOX1 chr17 41719935 42107467 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MEOX1,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41724262 41981453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf105,CD300LG,DUSP3,MEOX1,MPP2,MPP3,SOST chr17 41725001 41832000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEOX1,SOST chr17 41725248 41922148 Deletion Non-syndromic sensorineural hearing loss Targeted BAC, 610K 19587683 C17orf105,DUSP3,MEOX1,MPP3,SOST chr17 41726926 41770918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEOX1 chr17 41728078 41767375 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 MEOX1 chr17 41728274 41770916 Gain and loss Pancreatic cancer SNP array 17952125 MEOX1 chr17 41730000 41910000 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 C17orf105,DUSP3,MEOX1,MPP3,SOST chr17 41747597 41958405 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf105,CD300LG,DUSP3,MPP2,MPP3,SOST chr17 41747597 42061631 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,PPY,PYY,SOST chr17 41747597 42061631 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,PPY,PYY,SOST chr17 41747597 42268630 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB16,C17orf105,C17orf53,C17orf65,CD300LG,DUSP3,FAM215A,G6PC3,HDAC5,LSM12,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101,TMUB2 chr17 41747597 42268630 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB16,C17orf105,C17orf53,C17orf65,CD300LG,DUSP3,FAM215A,G6PC3,HDAC5,LSM12,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101,TMUB2 chr17 41747597 42632332 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB16,ATXN7L3,C17orf105,C17orf53,C17orf65,CD300LG,DUSP3,FAM171A2,FAM215A,G6PC3,GPATCH8,GRN,HDAC5,ITGA2B,LSM12,MPP2,MPP3,NAGS,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,SOST,TMEM101,TMUB2,UBTF chr17 41749001 41749101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 41750175 42099176 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750175 42107467 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750175 42107467 Deletion Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750175 42107467 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750175 42107467 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750175 42107467 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750175 42107467 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750175 42107467 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750183 42107467 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41750187 41756831 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 41750187 42078147 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,PPY,PYY,SOST chr17 41750187 42120174 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C17orf105,CD300LG,DUSP3,FAM215A,LSM12,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41752812 41753090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 41752812 41753106 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 41752816 41753091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 41756820 42078146 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,PPY,PYY,SOST chr17 41756820 42107467 Deletion Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41756820 42107467 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41756831 41756832 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 41756832 41764423 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 41756832 42107479 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41758316 42139813 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 C17orf105,CD300LG,DUSP3,FAM215A,LSM12,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41758796 41829496 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr17 41764411 42107467 Deletion Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41764423 41784437 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 41781845 41922658 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 C17orf105,DUSP3,MPP3,SOST chr17 41784425 42107467 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41784437 41860676 Gain or loss Normal Birdsuite, version 1.5.2 22087296 C17orf105,DUSP3,SOST chr17 41784916 42137476 Loss Autism 1M Ailent CGH whole-genome array 21865298 C17orf105,CD300LG,DUSP3,FAM215A,LSM12,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41791184 42107467 Deletion Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41791184 42107467 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41798857 42061631 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,PPY,PYY,SOST chr17 41798857 42061631 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,PPY,PYY,SOST chr17 41798857 42268630 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB16,C17orf105,C17orf53,C17orf65,CD300LG,DUSP3,FAM215A,G6PC3,HDAC5,LSM12,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101,TMUB2 chr17 41798857 42268630 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASB16,C17orf105,C17orf53,C17orf65,CD300LG,DUSP3,FAM215A,G6PC3,HDAC5,LSM12,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101,TMUB2 chr17 41815840 42099176 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,DUSP3,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,SOST,TMEM101 chr17 41816762 41855562 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 DUSP3,SOST chr17 41817726 41817795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 41827329 41827376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 41832001 41915000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf105,DUSP3,MPP3,SOST chr1 74183406 74210584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 41836954 41837019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 41844980 41845080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUSP3 chr17 41860664 42107467 Duplication Normal Affymetrix 6.0 microarrays 20967226 C17orf105,CD300LG,FAM215A,MPP2,MPP3,NAGS,PPY,PYY,TMEM101 chr17 41860676 41987366 Gain or loss Normal Birdsuite, version 1.5.2 22087296 C17orf105,CD300LG,MPP2,MPP3 chr17 41889387 42452116 Gain and loss Pancreatic cancer SNP array 17952125 ASB16,ATXN7L3,C17orf53,C17orf65,CD300LG,FAM171A2,FAM215A,G6PC3,GRN,HDAC5,ITGA2B,LSM12,MPP2,MPP3,NAGS,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,TMEM101,TMUB2,UBTF chr17 41900000 44800000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 ACBD4,ADAM11,ARHGAP27,ARL17A,ARL17B,ASB16,ATXN7L3,C17orf104,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CRHR1,DBF4B,DCAKD,EFTUD2,FAM171A2,FAM215A,FMNL1,FZD2,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,SPPL2C,STH,TEX34,TMEM101,TMUB2,UBTF chr17 41900000 44800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACBD4,ADAM11,ARHGAP27,ARL17A,ARL17B,ASB16,ATXN7L3,C17orf104,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CRHR1,DBF4B,DCAKD,EFTUD2,FAM171A2,FAM215A,FMNL1,FZD2,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,SPPL2C,STH,TEX34,TMEM101,TMUB2,UBTF chr17 41900000 44800000 Copy number Normal - 21701786 ACBD4,ADAM11,ARHGAP27,ARL17A,ARL17B,ASB16,ATXN7L3,C17orf104,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CRHR1,DBF4B,DCAKD,EFTUD2,FAM171A2,FAM215A,FMNL1,FZD2,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,SPPL2C,STH,TEX34,TMEM101,TMUB2,UBTF chr17 41900000 44800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACBD4,ADAM11,ARHGAP27,ARL17A,ARL17B,ASB16,ATXN7L3,C17orf104,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CRHR1,DBF4B,DCAKD,EFTUD2,FAM171A2,FAM215A,FMNL1,FZD2,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,SPPL2C,STH,TEX34,TMEM101,TMUB2,UBTF chr17 41900000 44800000 Microdeletion Non-syndromic sensorineural hearing loss Array-CGH 21084979 ACBD4,ADAM11,ARHGAP27,ARL17A,ARL17B,ASB16,ATXN7L3,C17orf104,C17orf53,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CD300LG,CRHR1,DBF4B,DCAKD,EFTUD2,FAM171A2,FAM215A,FMNL1,FZD2,G6PC3,GFAP,GJC1,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,ITGA2B,KANSL1,KANSL1-AS1,KIF18B,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LSM12,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,MPP2,MPP3,NAGS,NMT1,NSF,NSFP1,PLCD3,PLEKHM1,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,SPPL2C,STH,TEX34,TMEM101,TMUB2,UBTF chr17 41945197 41984749 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 MPP2 chr17 41945392 41988332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPP2 chr17 41945392 41988332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPP2 chr17 41949385 42012364 Gain and loss Pancreatic cancer SNP array 17952125 FAM215A,MPP2 chr17 41949797 42012364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM215A,MPP2 chr17 41949832 42244748 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 C17orf53,FAM215A,G6PC3,HDAC5,LSM12,MPP2,NAGS,PPY,PYY,TMEM101 chr17 41951716 42923972 LOH Normal High-resolution SNP genotyping 21211785 ADAM11,ASB16,ATXN7L3,C17orf104,C17orf53,C17orf65,CCDC43,DBF4B,FAM171A2,FAM215A,FZD2,G6PC3,GJC1,GPATCH8,GRN,HDAC5,ITGA2B,LSM12,MPP2,NAGS,PPY,PYY,RUNDC3A,SLC25A39,SLC4A1,TMEM101,TMUB2,UBTF chr17 41969226 42142846 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 FAM215A,LSM12,MPP2,NAGS,PPY,PYY,TMEM101 chr17 41970216 41970508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPP2 chr17 41970216 41970510 Gain and loss Pancreatic cancer SNP array 17952125 MPP2 chr17 41970220 41970495 Gain and loss Pancreatic cancer SNP array 17952125 MPP2 chr17 41975936 41976036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPP2 chr17 41982042 41982142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPP2 chr17 41987366 42020987 Gain or loss Normal Birdsuite, version 1.5.2 22087296 FAM215A,PPY chr17 42020987 42078158 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PYY chr17 42023391 42190000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 G6PC3,HDAC5,LSM12,NAGS,PYY,TMEM101 chr17 42023391 42190000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 G6PC3,HDAC5,LSM12,NAGS,PYY,TMEM101 chr17 42023398 42189993 Gain and loss Pancreatic cancer SNP array 17952125 G6PC3,HDAC5,LSM12,NAGS,PYY,TMEM101 chr1 74203946 74219552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 420550 420635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS53 chr17 42055752 42093318 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NAGS,PYY,TMEM101 chr17 42078158 42107479 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NAGS,PYY,TMEM101 chr17 42080376 42098869 Amplification or deletion Cancer Array CGH 17440070 NAGS,PYY,TMEM101 chr17 42087497 78311473 Gain Prostate cancer Array CGH 18632612 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,ADAM11,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARMC7,ARSG,ASB16,ATP5G1,ATP5H,ATXN7L3,AXIN2,B4GALNT2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf104,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf53,C17orf58,C17orf64,C17orf65,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC103,CCDC40,CCDC43,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DBF4B,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DNAH17,DNAI2,DYNLL2,EFCAB13,EFCAB3,EFTUD2,EIF4A3,EME1,ENGASE,ENPP7,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM171A2,FAM20A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,FZD2,G6PC3,GAA,GALK1,GALR2,GDPD1,GFAP,GGA3,GH1,GH2,GIP,GJC1,GNA13,GNGT2,GOSR2,GPATCH8,GPR142,GPRC5C,GRB2,GRIN2C,GRN,H3F3B,HDAC5,HEATR6,HELZ,HEXIM1,HEXIM2,HIGD1B,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IGF2BP1,INTS2,ITGA2B,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF18B,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LSM12,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAT9,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPRML,RPS6KB1,RSAD1,RUNDC3A,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC25A39,SLC26A11,SLC35B1,SLC39A11,SLC4A1,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM101,TMEM104,TMEM235,TMEM92,TMUB2,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UBTF,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 42095931 42096031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 42107479 42120174 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LSM12 chr17 42110965 42111055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 42115600 42437714 Duplication Autism Array CGH 22102821 ASB16,ATXN7L3,C17orf53,C17orf65,FAM171A2,G6PC3,GRN,HDAC5,LSM12,RUNDC3A,SLC25A39,SLC4A1,TMUB2,UBTF chr17 42120174 42143377 Loss Normal Birdsuite, version 1.5.2 22087296 LSM12 chr17 42131224 42131324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSM12 chr17 42148034 53102456 Copy number Lung cancer paired-end sequencing 18438408 ABCC3,ABI3,ACBD4,ACSF2,ADAM11,ANKRD40,ARHGAP27,ARL17A,ARL17B,ASB16,ATP5G1,ATXN7L3,B4GALNT2,C17orf104,C17orf112,C17orf53,C17orf65,C17orf69,C1QL1,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CBX1,CCDC103,CCDC43,CDC27,CDK5RAP3,CHAD,COL1A1,COPZ2,COX11,CRHR1,DBF4B,DCAKD,DLX3,DLX4,EFCAB13,EFTUD2,EME1,EPN3,FAM117A,FAM171A2,FLJ40194,FLJ45513,FMNL1,FZD2,G6PC3,GFAP,GIP,GJC1,GNGT2,GOSR2,GPATCH8,GRN,HDAC5,HEXIM1,HEXIM2,HIGD1B,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGA2B,ITGA3,ITGB3,KANSL1,KANSL1-AS1,KAT7,KIF18B,KIF2B,KPNB1,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC46,LRRC59,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR4315-1,MIR4315-2,MIR5089,MRPL10,MRPL27,MRPL45P2,MYCBPAP,MYL4,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NPEPPS,NSF,NSFP1,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLCD3,PLEKHM1,PNPO,PPP1R9B,PRAC,PRR15L,RPRML,RSAD1,RUNDC3A,SAMD14,SCRN2,SGCA,SKAP1,SLC25A39,SLC35B1,SLC4A1,SNF8,SNX11,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STH,STXBP4,TAC4,TBKBP1,TBX21,TEX34,TMEM92,TMUB2,TOB1,TOB1-AS1,TOM1L1,TTLL6,UBE2Z,UBTF,UTP18,WFIKKN2,WNT3,WNT9B,XYLT2,ZNF652 chr17 42148675 42148758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 G6PC3 chr17 42154132 42154717 Gain and loss Pancreatic cancer SNP array 17952125 HDAC5 chr17 42154132 42154717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDAC5 chr17 42186293 42186337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDAC5 chr17 42193304 42193398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDAC5 chr17 42195044 42250980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB16,C17orf53,HDAC5 chr17 42195044 42250980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB16,C17orf53,HDAC5 chr17 42196856 42251081 Gain or loss Breast cancer - 20668451 ASB16,C17orf53,HDAC5 chr17 42196856 42251081 Gain or loss Cancer - 20668451 ASB16,C17orf53,HDAC5 chr17 42196856 42251081 Gain or loss Lung cancer - 20668451 ASB16,C17orf53,HDAC5 chr17 42196856 42251081 Gain or loss Ovarian cancer - 20668451 ASB16,C17orf53,HDAC5 chr17 42196856 42251081 Gain or loss Pancreas cancer - 20668451 ASB16,C17orf53,HDAC5 chr17 42196856 42251081 Gain or loss Prostate cancer - 20668451 ASB16,C17orf53,HDAC5 chr17 42196863 42251081 Gain and loss Pancreatic cancer SNP array 17952125 ASB16,C17orf53,HDAC5 chr17 42197001 42204500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC5 chr17 42204501 42207000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 42207001 42249000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASB16,C17orf53 chr17 42249001 42255000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASB16,C17orf65 chr17 42255001 42341500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASB16,ATXN7L3,C17orf65,SLC4A1,TMUB2,UBTF chr17 42260498 44124536 LOH Normal High-resolution SNP genotyping 21211785 ACBD4,ADAM11,ARHGAP27,ATXN7L3,C17orf104,C17orf65,C17orf69,C1QL1,CCDC103,CCDC43,CRHR1,DBF4B,DCAKD,EFTUD2,FAM171A2,FMNL1,FZD2,GFAP,GJC1,GPATCH8,GRN,HEXIM1,HEXIM2,HIGD1B,ITGA2B,KANSL1,KIF18B,LOC644172,LRRC37A4P,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,NMT1,PLCD3,PLEKHM1,RUNDC3A,SLC25A39,SLC4A1,SPPL2C,STH,TEX34,TMUB2,UBTF chr17 42265711 42317484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN7L3,TMUB2,UBTF chr17 42265711 42317484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN7L3,TMUB2,UBTF chr17 42271137 42271206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATXN7L3 chr17 42280755 42280855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 42283966 42319095 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 UBTF chr17 42283966 42319095 Gain or loss Breast cancer - 20668451 UBTF chr17 42283966 42319095 Gain or loss Cancer - 20668451 UBTF chr17 42283966 42319095 Gain or loss Lung cancer - 20668451 UBTF chr17 42283966 42319095 Gain or loss Ovarian cancer - 20668451 UBTF chr17 42283966 42319095 Gain or loss Pancreas cancer - 20668451 UBTF chr17 42283966 42319095 Gain or loss Prostate cancer - 20668451 UBTF chr17 42283967 42309436 Gain and loss Pancreatic cancer SNP array 17952125 UBTF chr17 42292983 42293072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBTF chr17 42297388 43288252 LOH Normal High-resolution SNP genotyping 21211785 ACBD4,ADAM11,C17orf104,C1QL1,CCDC103,CCDC43,DBF4B,DCAKD,EFTUD2,FAM171A2,FZD2,GFAP,GJC1,GPATCH8,GRN,HEXIM1,HEXIM2,HIGD1B,ITGA2B,KIF18B,NMT1,PLCD3,RUNDC3A,SLC25A39,SLC4A1,UBTF chr17 42299184 42902014 Insert Cancer ultra-high resolution array CGH 21272361 ADAM11,C17orf104,CCDC43,DBF4B,FAM171A2,FZD2,GJC1,GPATCH8,GRN,ITGA2B,RUNDC3A,SLC25A39,SLC4A1 chr17 42301601 43085900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAM11,C17orf104,C1QL1,CCDC103,CCDC43,DBF4B,EFTUD2,FAM171A2,FZD2,GFAP,GJC1,GPATCH8,GRN,HIGD1B,ITGA2B,KIF18B,RUNDC3A,SLC25A39,SLC4A1 chr17 42305722 43288252 LOH Normal High-resolution SNP genotyping 21211785 ACBD4,ADAM11,C17orf104,C1QL1,CCDC103,CCDC43,DBF4B,DCAKD,EFTUD2,FAM171A2,FZD2,GFAP,GJC1,GPATCH8,GRN,HEXIM1,HEXIM2,HIGD1B,ITGA2B,KIF18B,NMT1,PLCD3,RUNDC3A,SLC25A39,SLC4A1 chr17 42326359 42632332 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM171A2,GPATCH8,GRN,ITGA2B,RUNDC3A,SLC25A39,SLC4A1 chr17 42341501 42567500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM171A2,GPATCH8,GRN,ITGA2B,RUNDC3A,SLC25A39,SLC4A1 chr17 42353489 42353613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 42353489 42353614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 42355485 42373732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 42355485 42373732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 42355511 42373160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 4235794 4437169 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SPNS2,SPNS3,UBE2G1 chr17 4235794 4437169 Copy number gain Normal High-resolution SNP genotyping 21211785 SPNS2,SPNS3,UBE2G1 chr17 42411010 42411372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 42411010 42411372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 42435720 42515021 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM171A2,GPATCH8,ITGA2B chr17 42437008 42437071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM171A2 chr17 42453549 42488162 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 GPATCH8,ITGA2B chr17 42474190 42474482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPATCH8 chr17 42474194 42474469 Gain and loss Pancreatic cancer SNP array 17952125 GPATCH8 chr17 42474194 42474469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPATCH8 chr17 42480430 42483361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPATCH8 chr17 42480430 42483361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPATCH8 chr17 42482333 42482809 Gain and loss Pancreatic cancer SNP array 17952125 GPATCH8 chr1 74252662 74252712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 42550867 42550956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPATCH8 chr17 42552625 42621664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPATCH8 chr17 42552625 42621664 Gain and loss Pancreatic cancer SNP array 17952125 GPATCH8 chr17 42552625 42621664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPATCH8 chr1 74255618 74255718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 74256179 74256279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 42567501 42570000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPATCH8 chr17 42574804 42575135 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 GPATCH8 chr17 42591556 42592259 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 42595063 42595133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 42603476 43500471 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ACBD4,ADAM11,ARHGAP27,C17orf104,C1QL1,CCDC103,CCDC43,DBF4B,DCAKD,EFTUD2,FMNL1,FZD2,GFAP,GJC1,HEXIM1,HEXIM2,HIGD1B,KIF18B,MAP3K14,MAP3K14-AS1,NMT1,PLCD3,TEX34 chr1 742614 745077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 742614 745077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 42622151 42657504 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 FZD2 chr17 42641427 42656043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 42641427 42656044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 42641427 42656044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 74264287 74436459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 74264287 74436459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 42643130 42643219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 42657576 42657676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 42660346 44186025 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ACBD4,ADAM11,ARHGAP27,C17orf104,C17orf69,C1QL1,CCDC103,CCDC43,CRHR1,DBF4B,DCAKD,EFTUD2,FMNL1,GFAP,GJC1,HEXIM1,HEXIM2,HIGD1B,KANSL1,KIF18B,LOC644172,LRRC37A4P,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,NMT1,PLCD3,PLEKHM1,SPPL2C,STH,TEX34 chr17 42663809 43912906 LOH Normal High-resolution SNP genotyping 21211785 ACBD4,ADAM11,ARHGAP27,C17orf104,C17orf69,C1QL1,CCDC103,CCDC43,CRHR1,DBF4B,DCAKD,EFTUD2,FMNL1,GFAP,GJC1,HEXIM1,HEXIM2,HIGD1B,KIF18B,LOC644172,LRRC37A4P,MAP3K14,MAP3K14-AS1,MGC57346,MIR4315-1,MIR4315-2,NMT1,PLCD3,PLEKHM1,TEX34 chr17 42666324 43971712 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACBD4,ADAM11,ARHGAP27,C17orf104,C17orf69,C1QL1,CCDC103,CCDC43,CRHR1,DBF4B,DCAKD,EFTUD2,FMNL1,GFAP,GJC1,HEXIM1,HEXIM2,HIGD1B,KIF18B,LOC644172,LRRC37A4P,MAP3K14,MAP3K14-AS1,MAPT-AS1,MGC57346,MIR4315-1,MIR4315-2,NMT1,PLCD3,PLEKHM1,SPPL2C,TEX34 chr17 42667588 44302039 LOH Normal High-resolution SNP genotyping 21211785 ACBD4,ADAM11,ARHGAP27,C17orf104,C17orf69,C1QL1,CCDC103,CCDC43,CRHR1,DBF4B,DCAKD,EFTUD2,FMNL1,GFAP,GJC1,HEXIM1,HEXIM2,HIGD1B,KANSL1,KANSL1-AS1,KIF18B,LOC644172,LRRC37A4P,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,NMT1,PLCD3,PLEKHM1,SPPL2C,STH,TEX34 chr17 42667588 44309096 LOH Normal High-resolution SNP genotyping 21211785 ACBD4,ADAM11,ARHGAP27,C17orf104,C17orf69,C1QL1,CCDC103,CCDC43,CRHR1,DBF4B,DCAKD,EFTUD2,FMNL1,GFAP,GJC1,HEXIM1,HEXIM2,HIGD1B,KANSL1,KANSL1-AS1,KIF18B,LOC644172,LRRC37A4P,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,NMT1,PLCD3,PLEKHM1,SPPL2C,STH,TEX34 chr17 42669501 42671000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 42684911 43679156 LOH Normal High-resolution SNP genotyping 21211785 ACBD4,ADAM11,ARHGAP27,C17orf104,C1QL1,CCDC103,CCDC43,DBF4B,DCAKD,EFTUD2,FMNL1,GFAP,GJC1,HEXIM1,HEXIM2,HIGD1B,KIF18B,LOC644172,LRRC37A4P,MAP3K14,MAP3K14-AS1,MIR4315-1,MIR4315-2,NMT1,PLCD3,PLEKHM1,TEX34 chr17 42686207 42745076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf104 chr17 42686207 42745076 Gain and loss Pancreatic cancer SNP array 17952125 C17orf104 chr17 42686207 42745076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf104 chr17 427027 21322119 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 42754908 42754972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC43 chr17 42756346 42873674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM11,CCDC43,DBF4B chr17 42756346 42873674 Gain and loss Pancreatic cancer SNP array 17952125 ADAM11,CCDC43,DBF4B chr17 42756346 42873674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM11,CCDC43,DBF4B chr17 42800434 42800524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DBF4B chr17 4283501 4308000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 4283968 4338247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPNS3 chr17 4283968 4338247 Gain and loss Pancreatic cancer SNP array 17952125 SPNS3 chr17 4283968 4338247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPNS3 chr17 42856129 42856957 Gain and loss Pancreatic cancer SNP array 17952125 ADAM11 chr17 42875373 43085418 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QL1,CCDC103,EFTUD2,GFAP,GJC1,HIGD1B,KIF18B chr17 42875373 43085418 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QL1,CCDC103,EFTUD2,GFAP,GJC1,HIGD1B,KIF18B chr17 42875373 43119955 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QL1,CCDC103,DCAKD,EFTUD2,GFAP,GJC1,HIGD1B,KIF18B chr17 42875373 43119955 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QL1,CCDC103,DCAKD,EFTUD2,GFAP,GJC1,HIGD1B,KIF18B chr17 42906958 43019574 Loss Normal 244K array 17666407 CCDC103,EFTUD2,GFAP,GJC1,HIGD1B,KIF18B chr17 42915095 43085418 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QL1,CCDC103,EFTUD2,GFAP,HIGD1B,KIF18B chr17 42915095 43119955 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QL1,CCDC103,DCAKD,EFTUD2,GFAP,HIGD1B,KIF18B chr17 42921379 43119955 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QL1,CCDC103,DCAKD,EFTUD2,GFAP,HIGD1B,KIF18B chr17 42963442 43055641 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 C1QL1,CCDC103,EFTUD2,GFAP,KIF18B chr17 42963443 43055640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QL1,CCDC103,EFTUD2,GFAP,KIF18B chr17 42963443 43055640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QL1,CCDC103,EFTUD2,GFAP,KIF18B chr17 42963603 43055634 Gain and loss Pancreatic cancer SNP array 17952125 C1QL1,CCDC103,EFTUD2,GFAP,KIF18B chr17 42964465 43025006 Gain Autism 1M Ailent CGH whole-genome array 21865298 CCDC103,EFTUD2,GFAP,KIF18B chr17 42971194 43025594 Gain Autism 1M Ailent CGH whole-genome array 21865298 CCDC103,EFTUD2,GFAP,KIF18B chr17 42975162 43019604 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CCDC103,EFTUD2,GFAP,KIF18B chr17 42989778 42989877 Gain and loss Pancreatic cancer SNP array 17952125 GFAP chr17 42989778 42989879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFAP chr17 43020583 45713631 LOH Normal High-resolution SNP genotyping 21211785 ACBD4,ARHGAP27,ARL17A,ARL17B,C17orf69,C1QL1,CDC27,CRHR1,DCAKD,EFCAB13,FMNL1,GOSR2,HEXIM1,HEXIM2,ITGB3,KANSL1,KANSL1-AS1,KIF18B,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,MIR5089,MRPL45P2,MYL4,NMT1,NPEPPS,NSF,NSFP1,PLCD3,PLEKHM1,RPRML,SPPL2C,STH,TEX34,WNT3,WNT9B chr17 43041299 78654742 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACBD4,ACE,ACOX1,ACSF2,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARHGAP27,ARL17A,ARL17B,ARMC7,ARSG,ATP5G1,ATP5H,AXIN2,B4GALNT2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf69,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QL1,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CRHR1,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DCAKD,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DNAH17,DNAI2,DYNLL2,EFCAB13,EFCAB3,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM20A,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FMNL1,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GIP,GNA13,GNGT2,GOSR2,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HEXIM1,HEXIM2,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IGF2BP1,INTS2,ITGA3,ITGB3,ITGB4,JMJD6,KANSL1,KANSL1-AS1,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC644172,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC37A4P,LRRC46,LRRC59,LUC7L3,MAP2K6,MAP3K14,MAP3K14-AS1,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MGC57346,MIF4GD,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR301A,MIR3064,MIR3185,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MRC2,MRPL10,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYL4,MYO15B,NACA2,NAT9,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NMT1,NOG,NOL11,NPEPPS,NPTX1,NSF,NSFP1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLCD3,PLEKHM1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SKAP1,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC35B1,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SPPL2C,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STH,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TEX34,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM235,TMEM92,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,WNT3,WNT9B,XYLT2,YPEL2,ZACN,ZNF652 chr17 4308001 4323500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 43082274 43116003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAKD chr17 43082274 43116003 Gain and loss Pancreatic cancer SNP array 17952125 DCAKD chr17 43082274 43116003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAKD chr1 74308546 75100460 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C1orf173,FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K chr17 43085901 43490700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACBD4,ARHGAP27,DCAKD,FMNL1,HEXIM1,HEXIM2,MAP3K14,MAP3K14-AS1,NMT1,PLCD3,TEX34 chr17 43095467 43095467 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 43100349 43874506 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACBD4,ARHGAP27,C17orf69,CRHR1,DCAKD,FMNL1,HEXIM1,HEXIM2,LOC644172,LRRC37A4P,MAP3K14,MAP3K14-AS1,MGC57346,MIR4315-1,MIR4315-2,NMT1,PLCD3,PLEKHM1,TEX34 chr17 43108368 43144482 Duplication Schizophrenia NimbleGen HD2 platform 21346763 DCAKD,NMT1 chr17 43126501 43167500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DCAKD,NMT1 chr17 43127629 43144415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAKD,NMT1 chr17 43127629 43144415 Gain and loss Pancreatic cancer SNP array 17952125 DCAKD,NMT1 chr17 43127629 43144415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAKD,NMT1 chr17 43156502 43199228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NMT1,PLCD3 chr17 43165608 43178484 Amplification Systemic lupus erythematosus BioRad Chromo4 real-time PCR system 21278068 NMT1 chr17 43165609 43178484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMT1 chr17 43165609 43178484 Gain and loss Pancreatic cancer SNP array 17952125 NMT1 chr17 43165609 43178484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMT1 chr17 43167501 43233000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACBD4,HEXIM1,NMT1,PLCD3 chr17 43188511 43188575 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43188511 43188575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43226316 53630276 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC3,ABI3,ACSF2,ANKRD40,ARHGAP27,ARL17A,ARL17B,ATP5G1,B4GALNT2,C17orf112,C17orf69,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CBX1,CDC27,CDK5RAP3,CHAD,COL1A1,COPZ2,COX11,CRHR1,DLX3,DLX4,EFCAB13,EME1,EPN3,FAM117A,FLJ40194,FLJ45513,FMNL1,GIP,GNGT2,GOSR2,HEXIM1,HEXIM2,HILS1,HLF,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGA3,ITGB3,KANSL1,KANSL1-AS1,KAT7,KIF2B,KPNB1,LOC284080,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,LRRC46,LRRC59,LUC7L3,MAP3K14,MAP3K14-AS1,MAPT,MAPT-AS1,MAPT-IT1,MBTD1,MGC57346,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR4315-1,MIR4315-2,MIR5089,MMD,MRPL10,MRPL27,MRPL45P2,MYCBPAP,MYL4,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NPEPPS,NSF,NSFP1,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PLEKHM1,PNPO,PPP1R9B,PRAC,PRR15L,RPRML,RSAD1,SAMD14,SCRN2,SGCA,SKAP1,SLC35B1,SNF8,SNX11,SP2,SP6,SPAG9,SPATA20,SPOP,SPPL2C,STH,STXBP4,TAC4,TBKBP1,TBX21,TEX34,TMEM92,TOB1,TOB1-AS1,TOM1L1,TTLL6,UBE2Z,UTP18,WFIKKN2,WNT3,WNT9B,XYLT2,ZNF652 chr17 43233001 43284000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HEXIM2 chr17 4323501 4411000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPNS2,SPNS3 chr17 43239732 43254146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEXIM2 chr17 43239732 43254146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEXIM2 chr17 43239732 43254199 Gain and loss Pancreatic cancer SNP array 17952125 HEXIM2 chr17 43255638 43263902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43255638 43263902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43255638 43263902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43257899 43264674 Copy number Lung cancer - 20668451 NOT_FOUND chr17 43257899 43264674 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 43257899 43264674 Gain or loss Cancer - 20668451 NOT_FOUND chr17 43257899 43264674 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 43257899 43264674 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 43257899 43264674 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 43257899 43264674 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 43264077 43269855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43264077 43269855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43264099 43269689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43270057 43273641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43270057 43273641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43270057 43273641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43277279 43288239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43277279 43288239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43277279 43288239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43281225 43289137 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 43284001 43480000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP27,FMNL1,MAP3K14,MAP3K14-AS1,TEX34 chr17 43296818 43297554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43304 43394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 43312975 43313075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMNL1 chr17 43328515 43361320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K14,MAP3K14-AS1,TEX34 chr17 43328515 43361320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K14,MAP3K14-AS1,TEX34 chr17 43328612 43361320 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K14,MAP3K14-AS1,TEX34 chr17 43333147 43333246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K14-AS1,TEX34 chr17 43353636 43374625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP3K14 chr17 43360000 45370000 Gain Breast cancer aCGH 21509527 ARHGAP27,ARL17A,ARL17B,C17orf69,CDC27,CRHR1,GOSR2,ITGB3,KANSL1,KANSL1-AS1,LOC644172,LRRC37A,LRRC37A2,LRRC37A4P,MAP3K14,MAPT,MAPT-AS1,MAPT-IT1,MGC57346,MIR4315-1,MIR4315-2,MIR5089,MYL4,NSF,NSFP1,PLEKHM1,RPRML,SPPL2C,STH,WNT3,WNT9B chr17 43373916 43381673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K14 chr17 43373916 43381673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K14 chr17 43373936 43380653 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K14 chr17 43384335 43390109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K14 chr17 43384335 43390109 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K14 chr17 43384335 43390109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K14 chr17 43403427 43414146 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 43403428 43414146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43403428 43414146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43403428 43414146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43458534 43470138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43458534 43470138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43458793 43470138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43469526 43469612 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43469526 43469612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43480001 43492000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP27 chr17 43480720 43493836 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP27 chr17 43480720 43493836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP27 chr17 43480720 43493836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP27 chr17 43480720 43493846 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP27 chr17 43488111 43488189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP27 chr17 4348877 4389977 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 SPNS3 chr17 4348877 4389977 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SPNS3 chr17 4348882 4389078 Gain and loss Pancreatic cancer SNP array 17952125 SPNS3 chr17 4348882 4389078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPNS3 chr17 43490701 43971400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP27,C17orf69,CRHR1,LOC644172,LRRC37A4P,MAPT-AS1,MGC57346,MIR4315-1,MIR4315-2,PLEKHM1,SPPL2C chr17 43502414 43533806 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP27,PLEKHM1 chr17 43502414 43533806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP27,PLEKHM1 chr17 43502414 43533806 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP27,PLEKHM1 chr17 43502414 43533806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP27,PLEKHM1 chr17 43510662 43516682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLEKHM1 chr17 43521039 43521145 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM1 chr17 43521039 43521145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM1 chr17 43539501 43540500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHM1 chr17 43539910 43555104 Gain and loss Pancreatic cancer SNP array 17952125 MIR4315-1,MIR4315-2,PLEKHM1 chr17 43539919 43555104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4315-1,MIR4315-2,PLEKHM1 chr17 43539919 43555104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4315-1,MIR4315-2,PLEKHM1 chr17 43539919 43555104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4315-1,MIR4315-2,PLEKHM1 chr1 74356475 75831618 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 C1orf173,CRYZ,FPGT,FPGT-TNNI3K,LHX8,LRRIQ3,SLC44A5,TNNI3K,TYW3 chr17 43565801 43862599 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C17orf69,CRHR1,LOC644172,LRRC37A4P,MGC57346,PLEKHM1 chr17 43565801 43862599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf69,CRHR1,LOC644172,LRRC37A4P,MGC57346,PLEKHM1 chr17 43565801 43862599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf69,CRHR1,LOC644172,LRRC37A4P,MGC57346,PLEKHM1 chr17 43565804 43862551 Gain and loss Pancreatic cancer SNP array 17952125 C17orf69,CRHR1,LOC644172,LRRC37A4P,MGC57346,PLEKHM1 chr1 74357621 74375852 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43588788 43588872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC37A4P chr17 43629041 43629147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 43629041 43629147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 43700052 43973092 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C17orf69,CRHR1,MAPT,MAPT-AS1,MGC57346,SPPL2C chr17 4370191 4370254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPNS3 chr17 43744983 43745073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRHR1 chr1 74375961 74384943 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 437690 437790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS53 chr17 43803501 43806000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRHR1 chr17 43814732 43814947 Gain and loss Pancreatic cancer SNP array 17952125 CRHR1 chr17 43814733 43814947 Gain and loss Pancreatic cancer SNP array 17952125 CRHR1 chr17 43814733 43814947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRHR1 chr17 43876478 43876546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRHR1 chr17 4388939 4405430 Copy number Gastric cancer Human cDNA microarrays 17229543 SPNS2,SPNS3 chr17 4388941 4405430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPNS2,SPNS3 chr17 4388941 4405430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPNS2,SPNS3 chr17 4388950 4405393 Gain and loss Pancreatic cancer SNP array 17952125 SPNS2,SPNS3 chr17 43911458 43911557 Gain and loss Pancreatic cancer SNP array 17952125 CRHR1 chr17 43911458 43911559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRHR1 chr17 43923270 44005064 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 MAPT,MAPT-AS1,MAPT-IT1,SPPL2C chr17 43924501 43926000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPT-AS1 chr17 43928291 43928386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPT-AS1 chr17 43930335 46303881 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ARL17A,ARL17B,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,GOSR2,ITGB3,KANSL1,KANSL1-AS1,KPNB1,LRRC37A,LRRC37A2,LRRC46,MAPT,MAPT-AS1,MAPT-IT1,MIR1203,MIR152,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NPEPPS,NSF,NSFP1,OSBPL7,PNPO,PRR15L,RPRML,SCRN2,SKAP1,SNX11,SP2,SP6,STH,TBKBP1,TBX21,WNT3,WNT9B chr17 43957672 44191836 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KANSL1,MAPT,MAPT-AS1,MAPT-IT1,STH chr17 43958001 44080000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPT,MAPT-AS1,MAPT-IT1,STH chr17 43961806 43963271 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT-AS1 chr17 43961806 43963271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT-AS1 chr17 43961806 43963271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT-AS1 chr17 43961813 43963271 Gain and loss Pancreatic cancer SNP array 17952125 MAPT-AS1 chr17 43970800 43972219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAPT,MAPT-AS1 chr17 43971712 64091714 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC3,ABI3,ACE,ACSF2,AKAP1,AMZ2P1,ANKFN1,ANKRD40,APPBP2,ARL17A,ARL17B,ATP5G1,AXIN2,B4GALNT2,BCAS3,BRIP1,BZRAP1,BZRAP1-AS1,C17orf112,C17orf47,C17orf64,C17orf67,C17orf72,C17orf82,CA10,CA4,CACNA1G,CACNA1G-AS1,CALCOCO2,CBX1,CCDC47,CD79B,CDC27,CDK5RAP3,CEP112,CEP95,CHAD,CLTC,COIL,COL1A1,COPZ2,COX11,CSH1,CSH2,CSHL1,CUEDC1,CYB561,DCAF7,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DYNLL2,EFCAB13,EFCAB3,EME1,EPN3,EPX,ERN1,FAM117A,FLJ40194,FLJ45513,FTSJ3,GDPD1,GH1,GH2,GIP,GNA13,GNGT2,GOSR2,HEATR6,HILS1,HLF,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,IGF2BP1,INTS2,ITGA3,ITGB3,KANSL1,KANSL1-AS1,KAT7,KCNH6,KIF2B,KPNB1,LIMD2,LOC146880,LOC284080,LOC645638,LOC653653,LOC729683,LPO,LRRC37A,LRRC37A2,LRRC37A3,LRRC46,LRRC59,LUC7L3,MAP3K3,MAPT,MAPT-AS1,MAPT-IT1,MARCH10,MBTD1,MED13,METTL2A,MILR1,MIR10A,MIR1203,MIR142,MIR152,MIR196A1,MIR21,MIR301A,MIR3064,MIR3185,MIR3614,MIR4315-1,MIR4315-2,MIR454,MIR4729,MIR4736,MIR4737,MIR5047,MIR5089,MIR548W,MKS1,MMD,MPO,MRC2,MRPL10,MRPL27,MRPL45P2,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,MYCBPAP,MYL4,NACA2,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NOG,NPEPPS,NSF,NSFP1,NXPH3,OR4D1,OR4D2,OSBPL7,PCTP,PDK2,PECAM1,PHB,PHOSPHO1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R9B,PRAC,PRR11,PRR15L,PSMC5,PTRH2,RAD51C,RGS9,RNF126P1,RNF43,RNFT1,RPRML,RPS6KB1,RSAD1,SAMD14,SCARNA20,SCN4A,SCPEP1,SCRN2,SEPT4,SGCA,SKA2,SKAP1,SLC35B1,SMARCD2,SMG8,SMURF2,SNF8,SNORA76,SNORD104,SNX11,SP2,SP6,SPAG9,SPATA20,SPOP,SRSF1,STH,STRADA,STXBP4,SUPT4H1,TAC4,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEX14,TEX2,TLK2,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TTLL6,TUBD1,UBE2Z,USP32,UTP18,VEZF1,VMP1,WFIKKN2,WNT3,WNT9B,XYLT2,YPEL2,ZNF652 chr17 43973092 44246132 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 KANSL1,MAPT,MAPT-IT1,STH chr17 43975017 43977392 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAPT,MAPT-IT1 chr17 43975020 43977391 Gain and loss Pancreatic cancer SNP array 17952125 MAPT,MAPT-IT1 chr17 43975020 43977392 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT,MAPT-IT1 chr17 43975020 43977392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT,MAPT-IT1 chr17 43975020 43977392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT,MAPT-IT1 chr17 43981232 44006809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT chr17 43981232 44006809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 43981232 44006809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 43982246 44006848 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44007869 44010742 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT chr17 44007869 44010742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44007869 44010742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44007875 44010742 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44008300 44009187 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MAPT chr17 44012199 44012308 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44012199 44012308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44016405 44812847 LOH Normal High-resolution SNP genotyping 21211785 ARL17A,ARL17B,KANSL1,KANSL1-AS1,LRRC37A,LRRC37A2,MAPT,NSF,NSFP1,STH chr17 44023617 44026102 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAPT chr17 44023619 44026117 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44023619 44026127 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT chr17 44023619 44026127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44023619 44026127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44028097 44037353 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAPT chr17 44028098 44037333 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT chr17 44028098 44037333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44028098 44037333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44028113 44037333 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44034852 44038771 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT chr17 44034852 44038771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44034852 44038771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44039593 44043378 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44039593 44043382 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAPT chr17 44039602 44043382 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT chr17 44039602 44043382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44039602 44043382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44044707 44047300 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44044708 44047300 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT chr17 44044708 44047300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44044708 44047300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44053525 44058716 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44053527 44058834 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPT chr17 44053527 44058834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44053527 44058834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 44064851 44064920 Gain and loss Pancreatic cancer SNP array 17952125 MAPT chr17 44064851 44064920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPT chr17 4406978 4410625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPNS2 chr17 4406978 4410625 Gain and loss Pancreatic cancer SNP array 17952125 SPNS2 chr17 4406978 4410625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPNS2 chr17 44082050 44082150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPT chr17 44086862 44086914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPT chr17 44090216 44136976 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KANSL1,MAPT chr17 44103243 44103328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPT chr17 44107487 44107551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KANSL1 chr17 4411001 4426000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPNS2 chr1 74413106 74722129 Gain and loss Pancreatic cancer SNP array 17952125 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K chr17 44151001 44161000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KANSL1 chr17 44153870 44153975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KANSL1 chr17 44153966 44154132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KANSL1 chr17 44154083 44154881 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1 chr17 44154091 44154881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KANSL1 chr17 44154091 44154881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44154091 44154881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44155540 44157118 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KANSL1 chr17 44157124 44161110 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KANSL1 chr17 44157132 44161110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44157132 44161110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44157132 44161119 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KANSL1 chr17 44158000 45402000 Gain Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 ARL17A,ARL17B,CDC27,EFCAB13,GOSR2,ITGB3,KANSL1,KANSL1-AS1,LRRC37A,LRRC37A2,MIR5089,MYL4,NSF,NSFP1,RPRML,WNT3,WNT9B chr17 44158744 44161045 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1 chr17 44161001 44615500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARL17A,ARL17B,KANSL1,KANSL1-AS1,LRRC37A,LRRC37A2,NSFP1 chr17 44170618 45112624 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ARL17A,ARL17B,GOSR2,KANSL1,KANSL1-AS1,LRRC37A,LRRC37A2,MIR5089,NSF,NSFP1,RPRML,WNT3,WNT9B chr17 44173801 44275000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KANSL1,KANSL1-AS1 chr17 44194592 44249468 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KANSL1 chr17 44194602 44226685 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1 chr17 44194602 44249439 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KANSL1 chr17 44194602 44249439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44194602 44249439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44194738 48263149 Copy number gain Normal High-resolution SNP genotyping 21211785 ABI3,ARL17A,ARL17B,ATP5G1,B4GALNT2,CALCOCO2,CBX1,CDC27,CDK5RAP3,COL1A1,COPZ2,DLX3,DLX4,EFCAB13,FAM117A,FLJ40194,FLJ45513,GIP,GNGT2,GOSR2,HILS1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGA3,ITGB3,KANSL1,KANSL1-AS1,KAT7,KPNB1,LOC284080,LRRC37A,LRRC37A2,LRRC46,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NGFR,NPEPPS,NSF,NSFP1,NXPH3,OSBPL7,PDK2,PHB,PHOSPHO1,PNPO,PPP1R9B,PRAC,PRR15L,RPRML,SAMD14,SCRN2,SGCA,SKAP1,SLC35B1,SNF8,SNX11,SP2,SP6,SPOP,TAC4,TBKBP1,TBX21,TTLL6,UBE2Z,WNT3,WNT9B,ZNF652 chr17 44197915 44198208 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1 chr17 44197915 44198208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44197917 44198208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44215528 44215628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KANSL1 chr17 44244755 45187207 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARL17A,ARL17B,GOSR2,KANSL1,KANSL1-AS1,LRRC37A,LRRC37A2,MIR5089,NSF,NSFP1,RPRML,WNT3,WNT9B chr17 44246132 46266628 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARL17A,ARL17B,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,GOSR2,ITGB3,KANSL1,KANSL1-AS1,KPNB1,LRRC37A,LRRC37A2,LRRC46,MIR1203,MIR152,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NPEPPS,NSF,NSFP1,OSBPL7,PNPO,PRR15L,RPRML,SCRN2,SKAP1,SNX11,SP2,SP6,TBKBP1,TBX21,WNT3,WNT9B chr17 44259632 44262521 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KANSL1 chr17 4426001 4451000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYBBP1A,SPNS2 chr17 44263371 44297227 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KANSL1,KANSL1-AS1 chr17 44263371 44297227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANSL1,KANSL1-AS1 chr17 44263371 44297227 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1,KANSL1-AS1 chr17 44263371 44297227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1,KANSL1-AS1 chr17 44275001 45211100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARL17A,ARL17B,CDC27,GOSR2,KANSL1,LRRC37A,LRRC37A2,MIR5089,NSF,NSFP1,RPRML,WNT3,WNT9B chr17 44277685 44277753 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 KANSL1 chr17 44299215 44299480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1 chr17 44299822 44492120 Copy number gain Normal High-resolution SNP genotyping 21211785 ARL17A,ARL17B,KANSL1,LRRC37A,NSFP1 chr17 44313201 44313328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 44313202 44313324 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 44325147 44328229 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 44325147 44328229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 44325147 44328229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 44325147 44328229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4434043 4458363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYBBP1A,SPNS2 chr17 4434043 4458363 Gain and loss Pancreatic cancer SNP array 17952125 MYBBP1A,SPNS2 chr17 4434043 4458363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYBBP1A,SPNS2 chr17 44340730 44361421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 44340730 44361421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 44340765 44361421 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 44340829 44361421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 44340829 44361421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 44360632 44395064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARL17A,ARL17B,LRRC37A chr17 44362460 44377153 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL17A,ARL17B,LRRC37A chr17 44362460 44377153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B,LRRC37A chr17 44362460 44377153 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A,ARL17B,LRRC37A chr17 44362460 44377153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B,LRRC37A chr1 74436514 74782696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K chr1 74436514 74782696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K chr17 4437068 4437110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPNS2 chr17 44381722 44381881 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A,ARL17B,LRRC37A chr17 44381722 44381881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B,LRRC37A chr17 44381726 44381881 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A,ARL17B,LRRC37A chr17 44389013 44389114 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A,ARL17B,LRRC37A chr17 44389013 44389114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B,LRRC37A chr17 44390917 44400954 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL17A,ARL17B,LRRC37A chr17 44390917 44400954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B,LRRC37A chr17 44390917 44400954 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A,ARL17B,LRRC37A chr17 44390917 44400954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B,LRRC37A chr17 44392095 44392774 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARL17A,ARL17B,LRRC37A chr17 44420669 44420954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B chr17 44429773 44488506 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL17A,ARL17B,NSFP1 chr17 44429773 44488506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B,NSFP1 chr17 44429773 44488506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,ARL17B,NSFP1 chr17 44429802 44482146 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A,ARL17B,NSFP1 chr17 44468713 44468810 Gain and loss Pancreatic cancer SNP array 17952125 NSFP1 chr17 44468713 44468816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NSFP1 chr17 4451001 4735000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALOX15,ARRB2,CXCL16,GGT6,GLTPD2,MED11,MYBBP1A,PELP1,PLD2,PSMB6,SMTNL2,TM4SF5,VMO1,ZMYND15 chr17 44562699 44566386 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 44565154 44602235 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL17A,LRRC37A2 chr17 44565154 44602235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,LRRC37A2 chr17 44565154 44602235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A,LRRC37A2 chr17 44565328 44602235 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A,LRRC37A2 chr17 44583439 44583768 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 74459950 75058499 LOH Normal High-resolution SNP genotyping 21211785 C1orf173,FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K chr17 44615501 44662000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARL17A,LRRC37A2 chr17 44638596 44641742 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL17A chr17 44638596 44641742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL17A chr17 44638596 44641742 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A chr17 44638596 44641742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A chr17 44640532 44666355 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARL17A chr17 44642588 44655586 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL17A chr17 44642588 44655586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL17A chr17 44642588 44655586 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A chr17 44642588 44655586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A chr17 44655731 44663127 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL17A chr17 44655731 44663127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL17A chr17 44655731 44663127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL17A chr17 44656607 44663108 Gain and loss Pancreatic cancer SNP array 17952125 ARL17A chr17 44662001 44663500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 44663501 44720000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NSF,NSFP1 chr17 44669729 45499914 Amplification Breast cancer FISH 17142309 CDC27,EFCAB13,GOSR2,ITGB3,MIR5089,MYL4,NSF,NSFP1,RPRML,WNT3,WNT9B chr17 4467178 4958111 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ALOX15,ARRB2,C17orf107,CAMTA2,CHRNE,CXCL16,ENO3,GLTPD2,GP1BA,INCA1,KIF1C,MED11,MINK1,PELP1,PFN1,PLD2,PSMB6,RNF167,SLC25A11,SLC52A1,SMTNL2,SPAG7,TM4SF5,VMO1,ZMYND15 chr17 44673157 45060263 Amplification Cancer Affymetrix 250K Sty array 20164920 GOSR2,MIR5089,NSF,NSFP1,RPRML,WNT3,WNT9B chr17 44680600 44688810 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NSF,NSFP1 chr17 44680600 44688810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NSF,NSFP1 chr17 44680600 44688810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NSF,NSFP1 chr17 44684620 44685015 Gain and loss Pancreatic cancer SNP array 17952125 NSF,NSFP1 chr17 4469793 4469896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 4469793 4469896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 44706789 44708091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NSF,NSFP1 chr1 74471436 74471642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 44727485 44794834 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NSF chr17 44727485 44794834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NSF chr17 44727485 44794834 Gain and loss Pancreatic cancer SNP array 17952125 NSF chr17 44727485 44794834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NSF chr17 44758200 44758263 Gain and loss Pancreatic cancer SNP array 17952125 NSF chr17 44763016 44788109 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NSF chr17 44800000 47600000 Amplification Ovarian clear cell carcinoma FISH 19293255 ABI3,ATP5G1,B4GALNT2,CALCOCO2,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,FLJ40194,GIP,GNGT2,GOSR2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGB3,KPNB1,LRRC46,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NGFR,NPEPPS,NSF,OSBPL7,PHB,PHOSPHO1,PNPO,PRAC,PRR15L,RPRML,SCRN2,SKAP1,SNF8,SNX11,SP2,SP6,TBKBP1,TBX21,TTLL6,UBE2Z,WNT3,WNT9B,ZNF652 chr17 44800000 47600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABI3,ATP5G1,B4GALNT2,CALCOCO2,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,FLJ40194,GIP,GNGT2,GOSR2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGB3,KPNB1,LRRC46,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NGFR,NPEPPS,NSF,OSBPL7,PHB,PHOSPHO1,PNPO,PRAC,PRR15L,RPRML,SCRN2,SKAP1,SNF8,SNX11,SP2,SP6,TBKBP1,TBX21,TTLL6,UBE2Z,WNT3,WNT9B,ZNF652 chr17 44800000 47600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABI3,ATP5G1,B4GALNT2,CALCOCO2,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,FLJ40194,GIP,GNGT2,GOSR2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGB3,KPNB1,LRRC46,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NGFR,NPEPPS,NSF,OSBPL7,PHB,PHOSPHO1,PNPO,PRAC,PRR15L,RPRML,SCRN2,SKAP1,SNF8,SNX11,SP2,SP6,TBKBP1,TBX21,TTLL6,UBE2Z,WNT3,WNT9B,ZNF652 chr17 44800000 47600000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 ABI3,ATP5G1,B4GALNT2,CALCOCO2,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,FLJ40194,GIP,GNGT2,GOSR2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGB3,KPNB1,LRRC46,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NGFR,NPEPPS,NSF,OSBPL7,PHB,PHOSPHO1,PNPO,PRAC,PRR15L,RPRML,SCRN2,SKAP1,SNF8,SNX11,SP2,SP6,TBKBP1,TBX21,TTLL6,UBE2Z,WNT3,WNT9B,ZNF652 chr17 44800000 47600000 Microdeletion Non-syndromic sensorineural hearing loss FISH 21084979 ABI3,ATP5G1,B4GALNT2,CALCOCO2,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,FLJ40194,GIP,GNGT2,GOSR2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGB3,KPNB1,LRRC46,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NGFR,NPEPPS,NSF,OSBPL7,PHB,PHOSPHO1,PNPO,PRAC,PRR15L,RPRML,SCRN2,SKAP1,SNF8,SNX11,SP2,SP6,TBKBP1,TBX21,TTLL6,UBE2Z,WNT3,WNT9B,ZNF652 chr17 4480962 4491709 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 SMTNL2 chr17 4480970 4491709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMTNL2 chr17 4480970 4491709 Gain and loss Pancreatic cancer SNP array 17952125 SMTNL2 chr17 4480970 4491709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMTNL2 chr17 44832790 44833155 Gain and loss Pancreatic cancer SNP array 17952125 NSF chr17 44836419 44847241 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WNT3 chr17 44836419 44847241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT3 chr17 44836419 44847241 Gain and loss Pancreatic cancer SNP array 17952125 WNT3 chr17 44836419 44847241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT3 chr17 44849105 44849211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT3 chr17 44849107 44849211 Gain and loss Pancreatic cancer SNP array 17952125 WNT3 chr17 44856630 44857283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT3 chr17 44870501 45021000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GOSR2,WNT3,WNT9B chr17 44900000 47400000 Deletion Frontotemporal lobar degeneration References 19640594 ABI3,ATP5G1,B4GALNT2,CALCOCO2,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,FLJ40194,GIP,GNGT2,GOSR2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGB3,KPNB1,LRRC46,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NPEPPS,OSBPL7,PHOSPHO1,PNPO,PRAC,PRR15L,RPRML,SCRN2,SKAP1,SNF8,SNX11,SP2,SP6,TBKBP1,TBX21,TTLL6,UBE2Z,WNT9B,ZNF652 chr17 44900000 47400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABI3,ATP5G1,B4GALNT2,CALCOCO2,CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,FLJ40194,GIP,GNGT2,GOSR2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGB3,KPNB1,LRRC46,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR5089,MRPL10,MRPL45P2,MYL4,NFE2L1,NPEPPS,OSBPL7,PHOSPHO1,PNPO,PRAC,PRR15L,RPRML,SCRN2,SKAP1,SNF8,SNX11,SP2,SP6,TBKBP1,TBX21,TTLL6,UBE2Z,WNT9B,ZNF652 chr17 44900000 81195210 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 AANAT,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACE,ACOX1,ACSF2,ACTG1,AFMID,AKAP1,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD40,APOH,APPBP2,ARHGDIA,ARL16,ARMC7,ARSG,ASPSCR1,ATP5G1,ATP5H,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf62,C17orf64,C17orf67,C17orf70,C17orf72,C17orf77,C17orf80,C17orf82,C17orf89,C17orf99,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC47,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DCXR,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DNAH17,DNAI2,DUS1L,DYNLL2,EFCAB13,EFCAB3,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM195B,FAM20A,FASN,FBF1,FDXR,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,FTSJ3,GAA,GALK1,GALR2,GCGR,GDPD1,GGA3,GH1,GH2,GIP,GNA13,GNGT2,GOSR2,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HEXDC,HGS,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IGF2BP1,INTS2,ITGA3,ITGB3,ITGB4,JMJD6,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,LRRC45,LRRC46,LRRC59,LUC7L3,MAFG,MAFG-AS1,MAP2K6,MAP3K3,MARCH10,MBTD1,MED13,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR152,MIR196A1,MIR21,MIR301A,MIR3064,MIR3065,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MIR657,MKS1,MMD,MPO,MRC2,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,NACA2,NARF,NAT9,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NOG,NOL11,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R27,PPP1R9B,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTRH2,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RAD51C,RBFOX3,RECQL5,RFNG,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SECTM1,SEPT4,SEPT9,SGCA,SGSH,SIRT7,SKA2,SKAP1,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC26A11,SLC35B1,SLC38A10,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM105,TMEM235,TMEM92,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UNC13D,UNK,USH1G,USP32,USP36,UTP18,UTS2R,VEZF1,VMP1,WBP2,WDR45L,WFIKKN2,WIPI1,WNT9B,XYLT2,YPEL2,ZACN,ZNF652,ZNF750 chr17 44900000 81195210 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 AANAT,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACE,ACOX1,ACSF2,ACTG1,AFMID,AKAP1,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD40,APOH,APPBP2,ARHGDIA,ARL16,ARMC7,ARSG,ASPSCR1,ATP5G1,ATP5H,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf62,C17orf64,C17orf67,C17orf70,C17orf72,C17orf77,C17orf80,C17orf82,C17orf89,C17orf99,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC47,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CD79B,CDC27,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DCXR,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DNAH17,DNAI2,DUS1L,DYNLL2,EFCAB13,EFCAB3,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM195B,FAM20A,FASN,FBF1,FDXR,FLJ40194,FLJ43681,FLJ45079,FLJ45513,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,FTSJ3,GAA,GALK1,GALR2,GCGR,GDPD1,GGA3,GH1,GH2,GIP,GNA13,GNGT2,GOSR2,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HEXDC,HGS,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IGF2BP1,INTS2,ITGA3,ITGB3,ITGB4,JMJD6,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,LRRC45,LRRC46,LRRC59,LUC7L3,MAFG,MAFG-AS1,MAP2K6,MAP3K3,MARCH10,MBTD1,MED13,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR152,MIR196A1,MIR21,MIR301A,MIR3064,MIR3065,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5047,MIR5089,MIR548W,MIR634,MIR635,MIR636,MIR657,MKS1,MMD,MPO,MRC2,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYL4,MYO15B,NACA2,NARF,NAT9,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NOG,NOL11,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R27,PPP1R9B,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTRH2,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RAD51C,RBFOX3,RECQL5,RFNG,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPRML,RPS6KB1,RPTOR,RSAD1,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SECTM1,SEPT4,SEPT9,SGCA,SGSH,SIRT7,SKA2,SKAP1,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC26A11,SLC35B1,SLC38A10,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM105,TMEM235,TMEM92,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UNC13D,UNK,USH1G,USP32,USP36,UTP18,UTS2R,VEZF1,VMP1,WBP2,WDR45L,WFIKKN2,WIPI1,WNT9B,XYLT2,YPEL2,ZACN,ZNF652,ZNF750 chr17 44927653 44947371 Gain or loss Breast cancer - 20668451 WNT9B chr17 44927653 44947371 Gain or loss Cancer - 20668451 WNT9B chr17 44927653 44947371 Gain or loss Lung cancer - 20668451 WNT9B chr17 44927653 44947371 Gain or loss Ovarian cancer - 20668451 WNT9B chr17 44927653 44947371 Gain or loss Pancreas cancer - 20668451 WNT9B chr17 44927653 44947371 Gain or loss Prostate cancer - 20668451 WNT9B chr17 44927654 44947356 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WNT9B chr17 44927654 44947356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT9B chr17 44927654 44947356 Gain and loss Pancreatic cancer SNP array 17952125 WNT9B chr17 44927654 44947356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT9B chr17 44965761 45010486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GOSR2 chr17 44980000 45430000 Loss Acute lymphoblastic leukemia - 21339820 CDC27,EFCAB13,GOSR2,ITGB3,MIR5089,MYL4,RPRML chr17 44981267 44981332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 450000 4360000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABR,ANKFY1,ASPA,ATP2A3,BHLHA9,C17orf85,CAMKK1,CRK,CTNS,CYB5D2,DBIL5P,DPH1,EMC6,FAM57A,GEMIN4,GLOD4,GSG2,HIC1,INPP5K,ITGAE,KIAA0664,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SPNS3,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,UBE2G1,VPS53,WDR81,YWHAE,ZZEF1 chr17 45008219 45012718 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GOSR2 chr17 45008219 45012718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOSR2 chr17 45008219 45012718 Gain and loss Pancreatic cancer SNP array 17952125 GOSR2 chr17 45008219 45012718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOSR2 chr17 45031244 45110524 Gain or loss Breast cancer - 20668451 MIR5089,RPRML chr17 45031244 45110524 Gain or loss Cancer - 20668451 MIR5089,RPRML chr17 45031244 45110524 Gain or loss Lung cancer - 20668451 MIR5089,RPRML chr17 45031244 45110524 Gain or loss Ovarian cancer - 20668451 MIR5089,RPRML chr17 45031244 45110524 Gain or loss Pancreas cancer - 20668451 MIR5089,RPRML chr17 45031244 45110524 Gain or loss Prostate cancer - 20668451 MIR5089,RPRML chr17 45031244 45110524 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MIR5089,RPRML chr17 45031247 45110524 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR5089,RPRML chr17 45031247 45110524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5089,RPRML chr17 45031247 45110524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5089,RPRML chr17 45032379 45110384 Gain and loss Pancreatic cancer SNP array 17952125 MIR5089,RPRML chr17 450509 20683212 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 45051425 45051425 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 45051642 45051642 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 451209 18772157 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K4,MED11,MED31,MED9,MEIS3P1,METTL16,MFSD6L,MGC12916,MINK1,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 451209 6915690 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABR,AIPL1,ALOX12,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf100,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DERL2,DHX33,DPH1,EMC6,ENO3,FAM57A,FAM64A,FBXO39,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIAA0753,KIF1C,LOC100130950,LOC100506713,LOC284009,LOC339166,LOC728392,MED11,MED31,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MIR4520A,MIR4520B,MIS12,MNT,MYBBP1A,MYO1C,NLRP1,NUP88,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PRPF8,PSMB6,RABEP1,RAP1GAP2,RILP,RNF167,RNMTL1,RPA1,RPAIN,RTN4RL1,SCARF1,SCIMP,SERPINF1,SERPINF2,SGSM2,SHPK,SLC13A5,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP6,VMO1,VPS53,WDR81,WSCD1,XAF1,YWHAE,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 45129849 46047320 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CDC27,EFCAB13,ITGB3,KPNB1,LRRC46,MRPL10,MRPL45P2,MYL4,NPEPPS,OSBPL7,PNPO,PRR15L,SCRN2,SP2,SP6,TBKBP1,TBX21 chr17 45133339 45140527 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 45133689 45140525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45133689 45140525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45133693 45140291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45142688 45196518 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDC27 chr17 45142688 45196518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC27 chr17 45142688 45196518 Gain and loss Pancreatic cancer SNP array 17952125 CDC27 chr17 45142688 45196518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC27 chr17 45181434 45183173 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 45211101 46299000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBX1,CDC27,CDK5RAP3,COPZ2,EFCAB13,ITGB3,KPNB1,LRRC46,MIR1203,MIR152,MRPL10,MRPL45P2,MYL4,NFE2L1,NPEPPS,OSBPL7,PNPO,PRR15L,SCRN2,SKAP1,SNX11,SP2,SP6,TBKBP1,TBX21 chr17 4521427 4554381 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ALOX15 chr17 4521429 4554381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALOX15 chr17 4521429 4554381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALOX15 chr17 4521437 4554155 Gain and loss Pancreatic cancer SNP array 17952125 ALOX15 chr17 45221057 45261455 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDC27 chr17 45221057 45261455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC27 chr17 45221057 45261455 Gain and loss Pancreatic cancer SNP array 17952125 CDC27 chr17 45221057 45261455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC27 chr17 45270670 45280378 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 45270670 45280378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45270670 45280378 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45270670 45280378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 74527757 74527877 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 LRRIQ3 chr1 74527759 74527879 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LRRIQ3 chr17 45278271 45281198 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 45278271 45281198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45278283 45280186 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 45282501 45542000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EFCAB13,ITGB3,MRPL45P2,MYL4 chr17 45292480 45326517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYL4 chr17 4536964 4614292 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALOX15,ARRB2,PELP1 chr17 45371485 45372091 Gain and loss Pancreatic cancer SNP array 17952125 ITGB3 chr17 45398438 45398531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45398438 45398539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45398439 45398518 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45401561 45406948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB13 chr17 45401561 45406948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB13 chr17 45401561 45406948 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB13 chr17 45401561 45406948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB13 chr1 74540836 74540922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRIQ3 chr17 45422375 45427587 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB13 chr17 45422388 45427587 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB13 chr17 45422388 45427587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB13 chr17 45422388 45427587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB13 chr17 45470000 81020000 Gain Breast cancer aCGH 21509527 AANAT,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ABI3,ACE,ACOX1,ACSF2,ACTG1,AFMID,AKAP1,ALYREF,AMZ2,AMZ2P1,ANAPC11,ANKFN1,ANKRD40,APOH,APPBP2,ARHGDIA,ARL16,ARMC7,ARSG,ASPSCR1,ATP5G1,ATP5H,AXIN2,AZI1,B3GNTL1,B4GALNT2,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf101,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf62,C17orf64,C17orf67,C17orf70,C17orf72,C17orf77,C17orf80,C17orf82,C17orf89,C17orf99,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CALCOCO2,CANT1,CARD14,CASKIN2,CBX1,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC47,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CD79B,CDC42EP4,CDK3,CDK5RAP3,CDR2L,CEP112,CEP95,CHAD,CHMP6,CLTC,COG1,COIL,COL1A1,COPZ2,COX11,CPSF4L,CSH1,CSH2,CSHL1,CSNK1D,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DCXR,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DNAH17,DNAI2,DUS1L,DYNLL2,EFCAB13,EFCAB3,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,ENTHD2,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM195B,FAM20A,FASN,FBF1,FDXR,FLJ40194,FLJ45079,FLJ45513,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,FTSJ3,GAA,GALK1,GALR2,GCGR,GDPD1,GGA3,GH1,GH2,GIP,GNA13,GNGT2,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HEXDC,HGS,HILS1,HLF,HN1,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,HSF5,ICAM2,ICT1,IGF2BP1,INTS2,ITGA3,ITGB4,JMJD6,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,KPNB1,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,LRRC45,LRRC46,LRRC59,LUC7L3,MAFG,MAFG-AS1,MAP2K6,MAP3K3,MARCH10,MBTD1,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR10A,MIR1203,MIR1250,MIR142,MIR152,MIR196A1,MIR21,MIR301A,MIR3064,MIR3065,MIR3185,MIR3186,MIR338,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR4740,MIR5047,MIR548W,MIR634,MIR635,MIR636,MIR657,MKS1,MMD,MPO,MRC2,MRPL10,MRPL12,MRPL27,MRPL38,MRPL45P2,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYADML2,MYCBPAP,MYO15B,NACA2,NARF,NAT9,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NOG,NOL11,NOTUM,NPB,NPEPPS,NPLOC4,NPTX1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OSBPL7,OTOP2,OTOP3,OXLD1,P4HB,PCTP,PCYT2,PDE6G,PDK2,PECAM1,PGS1,PHB,PHOSPHO1,PITPNC1,PLEKHM1P,PNPO,POLG2,PPM1D,PPM1E,PPP1R27,PPP1R9B,PRAC,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PRR15L,PSMC5,PSMD12,PTRH2,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RAD51C,RBFOX3,RECQL5,RFNG,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,RSAD1,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SCRN2,SDK2,SEC14L1,SECTM1,SEPT4,SEPT9,SGCA,SGSH,SIRT7,SKA2,SKAP1,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC26A11,SLC35B1,SLC38A10,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNF8,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SNX11,SOCS3,SOX9,SP2,SP6,SPAG9,SPATA20,SPHK1,SPOP,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBCD,TBKBP1,TBX2,TBX21,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX19,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM105,TMEM235,TMEM92,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TSPAN10,TTLL6,TTYH2,TUBD1,UBE2O,UBE2Z,UNC13D,UNK,USH1G,USP32,USP36,UTP18,UTS2R,VEZF1,VMP1,WBP2,WDR45L,WFIKKN2,WIPI1,XYLT2,YPEL2,ZACN,ZNF652,ZNF750 chr17 45488488 45522842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB13 chr17 45488488 45522842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB13 chr17 45488730 45522843 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EFCAB13 chr17 45488730 45522844 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB13 chr17 45507458 45507550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB13 chr17 45527695 45543419 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MRPL45P2 chr17 45527695 45543419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL45P2 chr17 45527695 45543419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL45P2 chr17 45527695 45543421 Gain and loss Pancreatic cancer SNP array 17952125 MRPL45P2 chr17 45542001 45547000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MRPL45P2 chr17 45543679 45562176 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MRPL45P2 chr17 45543679 45562176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL45P2 chr17 45543679 45562176 Gain and loss Pancreatic cancer SNP array 17952125 MRPL45P2 chr17 45543679 45562176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL45P2 chr17 45547001 45643500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MRPL45P2,NPEPPS chr17 4554860 4555258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 4554860 4555261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45566103 45582873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL45P2 chr17 45566103 45582873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL45P2 chr17 45566104 45582873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MRPL45P2 chr17 45567695 45582873 Gain and loss Pancreatic cancer SNP array 17952125 MRPL45P2 chr17 45568000 55168000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ABCC3,ABI3,ACSF2,AKAP1,ANKFN1,ANKRD40,ATP5G1,B4GALNT2,C17orf112,C17orf67,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CBX1,CDK5RAP3,CHAD,COIL,COL1A1,COPZ2,COX11,DGKE,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ40194,FLJ45513,GIP,GNGT2,HILS1,HLF,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGA3,KAT7,KIF2B,KPNB1,LOC284080,LRRC46,LRRC59,LUC7L3,MBTD1,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MIR3614,MMD,MRPL10,MRPL27,MRPL45P2,MTVR2,MYCBPAP,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NOG,NPEPPS,NXPH3,OSBPL7,PCTP,PDK2,PHB,PHOSPHO1,PNPO,PPP1R9B,PRAC,PRR15L,RNF126P1,RSAD1,SAMD14,SCPEP1,SCRN2,SGCA,SKAP1,SLC35B1,SNF8,SNX11,SP2,SP6,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TBKBP1,TBX21,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,TRIM25,TTLL6,UBE2Z,UTP18,WFIKKN2,XYLT2,ZNF652 chr17 45598365 45608291 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 45598365 45608291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45598365 45608291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45598401 45608291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45598438 45598439 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr17 45603873 45604836 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 45603873 45604836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45603873 45604836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45603873 45604836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4560533 4571544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4560533 4571544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4560537 4571544 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr17 4560537 4571544 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 4560537 4571544 Gain or loss Cancer - 20668451 NOT_FOUND chr17 4560537 4571544 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 4560537 4571544 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 4560537 4571544 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 4560537 4571544 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 4560538 4571543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45616455 45633999 Copy number Epithelial cancer whole genome tiling path microarray CGH platform 20478067 NPEPPS chr17 45616456 45633992 Gain and loss Pancreatic cancer SNP array 17952125 NPEPPS chr17 45616456 45633999 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPEPPS chr17 45616456 45633999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPEPPS chr17 45616456 45633999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPEPPS chr17 4564608 4564857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 45681060 45681160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPEPPS chr17 45689501 45713000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NPEPPS chr17 45706832 45713843 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 45706832 45713843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45706832 45713843 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45706832 45713843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4571828 7483888 Loss Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 ACADVL,ACAP1,AIPL1,ALOX12,ALOX12P2,ALOX15P1,ARRB2,ASGR1,ASGR2,BCL6B,C17orf100,C17orf107,C17orf49,C17orf61,C17orf61-PLSCR3,C17orf74,C1QBP,CAMTA2,CD68,CHRNB1,CHRNE,CLDN7,CLEC10A,CTDNEP1,CXCL16,DERL2,DHX33,DLG4,DVL2,EIF4A1,EIF5A,ELP5,ENO3,FAM64A,FBXO39,FGF11,GABARAP,GLTPD2,GP1BA,GPS2,INCA1,KCTD11,KIAA0753,KIF1C,LOC100130950,LOC100506713,LOC339166,LOC728392,MED11,MED31,MINK1,MIR195,MIR324,MIR4520A,MIR4520B,MIR497,MIR497HG,MIS12,NEURL4,NLGN2,NLRP1,NUP88,PELP1,PFN1,PHF23,PITPNM3,PLD2,PLSCR3,POLR2A,PSMB6,RABEP1,RNASEK,RNASEK-C17ORF49,RNF167,RPAIN,SCIMP,SENP3,SENP3-EIF4A1,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC2A4,SLC35G6,SLC52A1,SNORA48,SNORA67,SNORD10,SPAG7,SPEM1,TEKT1,TM4SF5,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TXNDC17,USP6,VMO1,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594 chr17 45732286 45732373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KPNB1 chr1 7457464 7457564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 45753339 45753403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KPNB1 chr17 4576289 4598933 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PELP1 chr17 4577694 4577793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELP1 chr17 45777501 45780000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBKBP1 chr17 45778392 45793511 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBKBP1 chr17 45778392 45793511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBKBP1 chr17 45778392 45793511 Gain and loss Pancreatic cancer SNP array 17952125 TBKBP1 chr17 45778392 45793511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBKBP1 chr17 45780001 45784500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBKBP1 chr17 45782341 45782723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBKBP1 chr17 45784501 45799500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBKBP1 chr17 45799501 45893000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OSBPL7,TBX21 chr17 45800228 45805561 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45800230 45805561 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 45800230 45805561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45800230 45805561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45805589 45813817 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBX21 chr17 45805589 45813817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBX21 chr17 45805589 45813817 Gain and loss Pancreatic cancer SNP array 17952125 TBX21 chr17 45805589 45813817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX21 chr17 45805682 45805782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 45813599 45829831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBX21 chr17 45813599 45829831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX21 chr17 45813599 45829913 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBX21 chr17 45813599 45829913 Gain and loss Pancreatic cancer SNP array 17952125 TBX21 chr17 4581457 4583637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PELP1 chr17 4581457 4583637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PELP1 chr17 4581471 4583645 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PELP1 chr17 4581472 4583637 Gain and loss Pancreatic cancer SNP array 17952125 PELP1 chr17 45818505 45818606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX21 chr17 45818507 45818606 Gain and loss Pancreatic cancer SNP array 17952125 TBX21 chr17 4581994 4582094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELP1 chr17 45828120 45873207 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 4583576 4589972 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PELP1 chr17 4583577 4589972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PELP1 chr17 4583577 4589972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PELP1 chr17 4583579 4589890 Gain and loss Pancreatic cancer SNP array 17952125 PELP1 chr17 45858518 45907199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL10,OSBPL7 chr17 45858594 45907195 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MRPL10,OSBPL7 chr17 45858594 45907195 Gain and loss Pancreatic cancer SNP array 17952125 MRPL10,OSBPL7 chr17 4587357 4588084 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PELP1 chr17 45887668 45932180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC46,MRPL10,OSBPL7,SCRN2,SP6 chr17 45893001 45901500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MRPL10,OSBPL7 chr17 45896853 45901226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL10,OSBPL7 chr17 45896853 45901226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL10,OSBPL7 chr17 45896860 45901322 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MRPL10,OSBPL7 chr17 45896860 45901322 Gain and loss Pancreatic cancer SNP array 17952125 MRPL10,OSBPL7 chr17 4590085 4596156 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PELP1 chr17 45901501 45964500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC46,MRPL10,SCRN2,SP6 chr17 4590557 4596154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PELP1 chr17 4590557 4596154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PELP1 chr17 4590557 4596159 Gain and loss Pancreatic cancer SNP array 17952125 PELP1 chr17 45911189 45918335 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRRC46,SCRN2 chr17 45911189 45918335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC46,SCRN2 chr17 45911189 45918335 Gain and loss Pancreatic cancer SNP array 17952125 LRRC46,SCRN2 chr17 45911189 45918335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC46,SCRN2 chr17 45923095 45923195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SP6 chr17 45934075 45960448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 45934288 45934337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 45935493 45935577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 74593813 74593913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRIQ3 chr17 45940811 45963860 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 45940811 45963860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45940811 45963860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 45940943 45963857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 45949240 46466966 Gain Anaplastic thyroid cancer 33K microarrays 18753363 CBX1,CDK5RAP3,COPZ2,MIR1203,MIR152,NFE2L1,PNPO,PRR15L,SKAP1,SNX11,SP2 chr17 4595426 4614292 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARRB2,PELP1 chr17 45958475 45979682 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 SP2 chr17 45964501 46063500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDK5RAP3,PNPO,PRR15L,SP2 chr17 45965047 45976109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SP2 chr17 45965047 45976109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP2 chr17 45965098 45975160 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SP2 chr17 45965098 45975160 Gain and loss Pancreatic cancer SNP array 17952125 SP2 chr17 45979519 45988210 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SP2 chr17 45979519 45988210 Gain and loss Pancreatic cancer SNP array 17952125 SP2 chr17 45979554 45988210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SP2 chr17 45979554 45988210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP2 chr17 45993820 46059541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDK5RAP3,PNPO,PRR15L,SP2 chr17 45993820 46059541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK5RAP3,PNPO,PRR15L,SP2 chr17 45993820 46059541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK5RAP3,PNPO,PRR15L,SP2 chr17 45993820 46059625 Gain and loss Pancreatic cancer SNP array 17952125 CDK5RAP3,PNPO,PRR15L,SP2 chr17 46060583 46060683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 46061156 46295421 Gain small cell lung cancer Real-time Quantitative PCR 17426248 CBX1,COPZ2,MIR1203,MIR152,NFE2L1,SKAP1,SNX11 chr17 46062972 46077744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 46063501 46123500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COPZ2,MIR152 chr17 46067227 46124061 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COPZ2,MIR152 chr17 46067227 46124061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COPZ2,MIR152 chr17 46067227 46124061 Gain and loss Pancreatic cancer SNP array 17952125 COPZ2,MIR152 chr17 46067227 46124061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPZ2,MIR152 chr1 74607839 74608533 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LRRIQ3 chr17 46092164 46092217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 46094850 54666454 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1092K arrays 21546498 ABCC3,ABI3,ACSF2,ANKFN1,ANKRD40,ATP5G1,B4GALNT2,C17orf112,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CBX1,CHAD,COL1A1,COPZ2,COX11,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ40194,FLJ45513,GIP,GNGT2,HILS1,HLF,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,ITGA3,KAT7,KIF2B,LOC284080,LRRC59,LUC7L3,MBTD1,MIR10A,MIR1203,MIR152,MIR196A1,MIR3185,MMD,MRPL27,MYCBPAP,NFE2L1,NGFR,NME1,NME1-NME2,NME2,NXPH3,PCTP,PDK2,PHB,PHOSPHO1,PPP1R9B,PRAC,RSAD1,SAMD14,SGCA,SKAP1,SLC35B1,SNF8,SNX11,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,TTLL6,UBE2Z,UTP18,WFIKKN2,XYLT2,ZNF652 chr17 46125552 46140040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NFE2L1 chr17 46125552 46140040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFE2L1 chr17 46125552 46140040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFE2L1 chr17 46127681 46140262 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NFE2L1 chr17 46127682 46140262 Gain and loss Pancreatic cancer SNP array 17952125 NFE2L1 chr17 46129004 46129116 Gain and loss Pancreatic cancer SNP array 17952125 NFE2L1 chr17 46129004 46129118 Gain and loss Pancreatic cancer SNP array 17952125 NFE2L1 chr17 46129004 46129120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFE2L1 chr17 46151839 46152324 Gain and loss Pancreatic cancer SNP array 17952125 CBX1 chr17 46151963 46185069 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CBX1,SNX11 chr17 46151963 46185069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBX1,SNX11 chr17 46151963 46185069 Gain and loss Pancreatic cancer SNP array 17952125 CBX1,SNX11 chr17 46151963 46185069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX1,SNX11 chr17 46193389 46199878 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNX11 chr17 46193389 46199878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX11 chr17 46193389 46199878 Gain and loss Pancreatic cancer SNP array 17952125 SNX11 chr17 46193389 46199878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX11 chr17 46193401 46203148 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 SNX11 chr17 46199115 46199489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNX11 chr17 4621935 4633253 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ARRB2 chr17 4621935 4633253 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ARRB2 chr17 4621936 4633253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARRB2 chr17 4621936 4633253 Gain and loss Pancreatic cancer SNP array 17952125 ARRB2 chr17 4621936 4633253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARRB2 chr17 46220000 47560000 Loss Acute lymphoblastic leukemia - 21339820 ABI3,ATP5G1,B4GALNT2,CALCOCO2,FLJ40194,GIP,GNGT2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,MIR10A,MIR1203,MIR196A1,MIR3185,PHB,PHOSPHO1,PRAC,SKAP1,SNF8,TTLL6,UBE2Z,ZNF652 chr17 46229722 46230009 Gain and loss Pancreatic cancer SNP array 17952125 SKAP1 chr17 46251653 46324770 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SKAP1 chr17 46263001 46278500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SKAP1 chr17 46266628 46539668 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 SKAP1 chr17 46267604 46274706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SKAP1 chr17 46267604 46274706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SKAP1 chr17 46267770 46274706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SKAP1 chr17 46267770 46274706 Gain and loss Pancreatic cancer SNP array 17952125 SKAP1 chr17 46295340 46296377 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SKAP1 chr17 46295340 46296377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SKAP1 chr17 46295340 46296377 Gain and loss Pancreatic cancer SNP array 17952125 SKAP1 chr17 46295340 46296377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SKAP1 chr17 46297954 46735521 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 HOXB-AS3,HOXB1,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,MIR10A,MIR196A1,SKAP1 chr17 46299001 46729100 Copy number Normal ReadDepth: A Parallel R Package 21305028 HOXB-AS3,HOXB1,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,MIR10A,MIR196A1,SKAP1 chr17 46327285 46327373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SKAP1 chr17 46349501 46352500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SKAP1 chr17 46352501 46376500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SKAP1 chr17 4635321 4636471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED11 chr17 4635321 4636471 Gain and loss Pancreatic cancer SNP array 17952125 MED11 chr17 4635321 4636471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED11 chr17 46366330 46366430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SKAP1 chr17 46376501 46383000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SKAP1 chr17 46383001 46390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SKAP1 chr17 4638994 4640425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CXCL16 chr17 4638994 4640425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CXCL16 chr17 4639047 4640425 Gain and loss Pancreatic cancer SNP array 17952125 CXCL16 chr17 46397083 46553094 Gain and loss Pancreatic cancer SNP array 17952125 SKAP1 chr17 46397083 46553200 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SKAP1 chr17 46397083 46553204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SKAP1 chr17 46397083 46553204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SKAP1 chr17 46397986 46553094 Gain or loss Breast cancer - 20668451 SKAP1 chr17 46397986 46553094 Gain or loss Cancer - 20668451 SKAP1 chr17 46397986 46553094 Gain or loss Lung cancer - 20668451 SKAP1 chr17 46397986 46553094 Gain or loss Ovarian cancer - 20668451 SKAP1 chr17 46397986 46553094 Gain or loss Pancreas cancer - 20668451 SKAP1 chr17 46397986 46553094 Gain or loss Prostate cancer - 20668451 SKAP1 chr17 4646185 4647185 Loss Osteosarcoma References 21215367 ZMYND15 chr17 4646415 4648744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZMYND15 chr17 4646415 4648744 Gain and loss Pancreatic cancer SNP array 17952125 ZMYND15 chr17 4646415 4648744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYND15 chr1 7464727 7464787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr1 74649815 74661054 Gain and loss Pancreatic cancer SNP array 17952125 LRRIQ3 chr17 46504806 46505003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SKAP1 chr17 46504992 46505094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SKAP1 chr17 46509362 46509425 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr17 46523985 46524070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 46530545 46530633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 46530545 46530633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 46540662 46540762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 4657377 4673694 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 4657378 4673694 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4657378 4673694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4657392 4673694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 46574446 47561329 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABI3,ATP5G1,B4GALNT2,CALCOCO2,FLJ40194,GIP,GNGT2,HOXB-AS3,HOXB-AS5,HOXB1,HOXB13,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,IGF2BP1,MIR10A,MIR196A1,MIR3185,PHB,PHOSPHO1,PRAC,SNF8,TTLL6,UBE2Z,ZNF652 chr17 46585919 46594449 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 46585919 46604104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 46585919 46604104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 46598811 46604103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 46609785 46692426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOXB-AS3,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,MIR10A chr17 4661032 4664614 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 46617036 46617186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 46623961 46649738 Gain and loss Pancreatic cancer SNP array 17952125 HOXB3 chr17 46627974 46628029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOXB3 chr17 46629402 46629467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HOXB3 chr17 46651343 46651404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HOXB3 chr17 46692895 46730291 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 HOXB9,MIR196A1 chr17 46692896 46730289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOXB9,MIR196A1 chr17 46692909 46730289 Gain and loss Pancreatic cancer SNP array 17952125 HOXB9,MIR196A1 chr17 46723706 46723806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 46729101 47260400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP5G1,B4GALNT2,CALCOCO2,GIP,HOXB-AS5,HOXB13,IGF2BP1,MIR3185,PRAC,SNF8,TTLL6,UBE2Z chr17 46735521 51346804 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC3,ABI3,ACSF2,ANKRD40,ATP5G1,B4GALNT2,C17orf112,CA10,CACNA1G,CACNA1G-AS1,CALCOCO2,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ40194,FLJ45513,GIP,GNGT2,HILS1,HOXB-AS5,HOXB13,IGF2BP1,ITGA3,KAT7,LOC284080,LRRC59,LUC7L3,MBTD1,MIR3185,MRPL27,MYCBPAP,NGFR,NME1,NME1-NME2,NME2,NXPH3,PDK2,PHB,PHOSPHO1,PPP1R9B,PRAC,RSAD1,SAMD14,SGCA,SLC35B1,SNF8,SPAG9,SPATA20,SPOP,TAC4,TMEM92,TOB1,TOB1-AS1,TTLL6,UBE2Z,UTP18,WFIKKN2,XYLT2,ZNF652 chr17 46786469 46786614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 46827085 46872235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTLL6 chr17 4683350 4742135 Gain or loss Breast cancer - 20668451 GLTPD2,MINK1,PLD2,PSMB6,TM4SF5,VMO1 chr17 4683350 4742135 Gain or loss Cancer - 20668451 GLTPD2,MINK1,PLD2,PSMB6,TM4SF5,VMO1 chr17 4683350 4742135 Gain or loss Lung cancer - 20668451 GLTPD2,MINK1,PLD2,PSMB6,TM4SF5,VMO1 chr17 4683350 4742135 Gain or loss Ovarian cancer - 20668451 GLTPD2,MINK1,PLD2,PSMB6,TM4SF5,VMO1 chr17 4683350 4742135 Gain or loss Pancreas cancer - 20668451 GLTPD2,MINK1,PLD2,PSMB6,TM4SF5,VMO1 chr17 4683350 4742135 Gain or loss Prostate cancer - 20668451 GLTPD2,MINK1,PLD2,PSMB6,TM4SF5,VMO1 chr17 46854280 46886879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTLL6 chr17 46861907 46862007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTLL6 chr17 46934848 46935605 Gain and loss Pancreatic cancer SNP array 17952125 CALCOCO2 chr17 46934848 46935612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALCOCO2 chr17 46978996 46982051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 46984675 46984761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 46993062 46993161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2Z chr17 47053989 47085681 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 IGF2BP1 chr17 4706239 4706856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 47062673 47592367 Gain and loss Pancreatic cancer SNP array 17952125 ABI3,B4GALNT2,FLJ40194,GNGT2,IGF2BP1,NGFR,PHB,PHOSPHO1,ZNF652 chr17 47062674 47592160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI3,B4GALNT2,FLJ40194,GNGT2,IGF2BP1,NGFR,PHB,PHOSPHO1,ZNF652 chr17 4706449 4706865 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 47089473 49687051 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCC3,ABI3,ACSF2,ANKRD40,B4GALNT2,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ40194,FLJ45513,GNGT2,HILS1,IGF2BP1,ITGA3,KAT7,LOC284080,LRRC59,LUC7L3,MBTD1,MRPL27,MYCBPAP,NGFR,NME1,NME1-NME2,NME2,NXPH3,PDK2,PHB,PHOSPHO1,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,TAC4,TMEM92,TOB1,TOB1-AS1,UTP18,WFIKKN2,XYLT2,ZNF652 chr17 47095478 47133926 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 IGF2BP1 chr17 4710314 4738655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MINK1,PLD2 chr1 74710364 74721621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FPGT-TNNI3K,TNNI3K chr17 47103809 47103878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGF2BP1 chr17 47108801 47115802 Loss Normal Birdsuite, version 1.5.2 22087296 IGF2BP1 chr17 47140356 48041388 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABI3,B4GALNT2,FAM117A,FLJ40194,FLJ45513,GNGT2,KAT7,NGFR,NXPH3,PHB,PHOSPHO1,SLC35B1,SPOP,TAC4,ZNF652 chr17 4716885 4730566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLD2 chr17 4717703 4732311 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLD2 chr17 4718810 4740817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MINK1,PLD2 chr17 47235979 47271164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 B4GALNT2 chr17 4725458 4733342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLD2 chr17 47260401 47386900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABI3,FLJ40194,GNGT2,PHOSPHO1,ZNF652 chr17 4726800 4729338 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 4728437 4742134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4728437 4742134 Gain and loss Pancreatic cancer SNP array 17952125 MINK1 chr17 4728437 4742134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 47286464 47286564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNGT2 chr1 747332 751231 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 47339861 47373394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF652 chr1 74734094 74734194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FPGT-TNNI3K,TNNI3K chr17 4735001 4747500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MINK1 chr17 47362770 47370306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF652 chr17 47366427 51839988 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCC3,ACSF2,ANKRD40,C17orf112,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,ITGA3,KAT7,LOC284080,LRRC59,LUC7L3,MBTD1,MRPL27,MYCBPAP,NGFR,NME1,NME1-NME2,NME2,NXPH3,PDK2,PHB,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,TAC4,TMEM92,TOB1,TOB1-AS1,UTP18,WFIKKN2,XYLT2,ZNF652 chr17 47379863 47394947 Gain or loss Breast cancer - 20668451 ZNF652 chr17 47379863 47394947 Gain or loss Cancer - 20668451 ZNF652 chr17 47379863 47394947 Gain or loss Lung cancer - 20668451 ZNF652 chr17 47379863 47394947 Gain or loss Ovarian cancer - 20668451 ZNF652 chr17 47379863 47394947 Gain or loss Pancreas cancer - 20668451 ZNF652 chr17 47379863 47394947 Gain or loss Prostate cancer - 20668451 ZNF652 chr1 74738520 74738620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FPGT-TNNI3K,TNNI3K chr17 47386901 48120600 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLX3,DLX4,FAM117A,FLJ45513,KAT7,NGFR,NXPH3,PHB,SLC35B1,SPOP,TAC4,ZNF652 chr17 47400000 50200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABCC3,ACSF2,ANKRD40,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,ITGA3,KAT7,LOC284080,LRRC59,LUC7L3,MBTD1,MRPL27,MYCBPAP,NGFR,NME1,NME1-NME2,NME2,NXPH3,PDK2,PHB,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,TAC4,TMEM92,TOB1,TOB1-AS1,UTP18,WFIKKN2,XYLT2,ZNF652 chr17 47400000 74800000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ACE,ACOX1,ACSF2,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CASKIN2,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COX11,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,DCAF7,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DNAI2,DYNLL2,EFCAB3,EME1,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM20A,FBF1,FDXR,FLJ45513,FOXJ1,FTSJ3,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HILS1,HLF,HN1,HSF5,ICAM2,ICT1,INTS2,ITGA3,ITGB4,JMJD6,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,LIMD2,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100287042,LOC146880,LOC284080,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,LRRC59,LUC7L3,MAP2K6,MAP3K3,MARCH10,MBTD1,MED13,METTL23,METTL2A,MFSD11,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR4738,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MRC2,MRPL27,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYO15B,NACA2,NAT9,NGFR,NME1,NME1-NME2,NME2,NOG,NOL11,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PHB,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PPP1R9B,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF43,RNFT1,RPL38,RPS6KB1,RSAD1,SAMD14,SAP30BP,SCARNA20,SCN4A,SCPEP1,SDK2,SEPT4,SGCA,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC35B1,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOX9,SPAG9,SPATA20,SPHK1,SPOP,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,STXBP4,SUMO2,SUPT4H1,TAC4,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TLK2,TMEM100,TMEM104,TMEM92,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,UTP18,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,XYLT2,YPEL2,ZACN,ZNF652 chr17 47411130 48137311 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 DLX3,DLX4,FAM117A,FLJ45513,ITGA3,KAT7,LOC284080,NGFR,NXPH3,PHB,SLC35B1,SPOP,TAC4,ZNF652 chr17 4741840 4747148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4741840 4747148 Gain and loss Pancreatic cancer SNP array 17952125 MINK1 chr17 4741840 4747148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4743727 4746986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4743727 4746986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr1 74745821 74851443 Gain and loss Pancreatic cancer SNP array 17952125 FPGT-TNNI3K,TNNI3K chr17 47471612 47481360 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr17 4747501 4964000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf107,CAMTA2,CHRNE,ENO3,GP1BA,INCA1,KIF1C,MINK1,PFN1,RNF167,SLC25A11,SLC52A1,SPAG7 chr17 47477168 47477635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 475101 506196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS53 chr17 47544230 47544330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 47546526 49705574 Amplification Breast cancer Array CGH 16620391 ABCC3,ACSF2,ANKRD40,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,ITGA3,KAT7,LOC284080,LRRC59,LUC7L3,MBTD1,MRPL27,MYCBPAP,NGFR,NME1,NME1-NME2,NME2,NXPH3,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,TAC4,TMEM92,TOB1,TOB1-AS1,UTP18,WFIKKN2,XYLT2 chr17 47551045 47551145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 47567018 48652790 LOH Normal High-resolution SNP genotyping 21211785 ACSF2,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,ITGA3,KAT7,LOC284080,LRRC59,MRPL27,MYCBPAP,NGFR,NXPH3,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPATA20,SPOP,TAC4,TMEM92,XYLT2 chr1 74757108 74757841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FPGT-TNNI3K,TNNI3K chr17 47583179 47584179 Gain Renal cell carcinoma References 21215367 NGFR chr17 47600000 54900000 Amplification Ovarian clear cell carcinoma FISH 19293255 ABCC3,ACSF2,ANKFN1,ANKRD40,C17orf112,C17orf67,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,COX11,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,HLF,ITGA3,KAT7,KIF2B,LOC284080,LRRC59,LUC7L3,MBTD1,MMD,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,NOG,NXPH3,PCTP,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,UTP18,WFIKKN2,XYLT2 chr17 47600000 54900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC3,ACSF2,ANKFN1,ANKRD40,C17orf112,C17orf67,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,COX11,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,HLF,ITGA3,KAT7,KIF2B,LOC284080,LRRC59,LUC7L3,MBTD1,MMD,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,NOG,NXPH3,PCTP,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,UTP18,WFIKKN2,XYLT2 chr17 47600000 54900000 Copy number Normal - 21701786 ABCC3,ACSF2,ANKFN1,ANKRD40,C17orf112,C17orf67,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,COX11,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,HLF,ITGA3,KAT7,KIF2B,LOC284080,LRRC59,LUC7L3,MBTD1,MMD,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,NOG,NXPH3,PCTP,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,UTP18,WFIKKN2,XYLT2 chr17 47600000 54900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC3,ACSF2,ANKFN1,ANKRD40,C17orf112,C17orf67,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,COX11,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,HLF,ITGA3,KAT7,KIF2B,LOC284080,LRRC59,LUC7L3,MBTD1,MMD,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,NOG,NXPH3,PCTP,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,UTP18,WFIKKN2,XYLT2 chr17 47600000 54900000 Gain Barrett's adenocarcinoma FISH 18663352 ABCC3,ACSF2,ANKFN1,ANKRD40,C17orf112,C17orf67,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,COX11,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,HLF,ITGA3,KAT7,KIF2B,LOC284080,LRRC59,LUC7L3,MBTD1,MMD,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,NOG,NXPH3,PCTP,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,UTP18,WFIKKN2,XYLT2 chr17 47600000 54900000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ABCC3,ACSF2,ANKFN1,ANKRD40,C17orf112,C17orf67,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,COX11,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,HLF,ITGA3,KAT7,KIF2B,LOC284080,LRRC59,LUC7L3,MBTD1,MMD,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,NOG,NXPH3,PCTP,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,UTP18,WFIKKN2,XYLT2 chr17 47600000 55600000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 ABCC3,ACSF2,AKAP1,ANKFN1,ANKRD40,C17orf112,C17orf67,CA10,CACNA1G,CACNA1G-AS1,CHAD,COIL,COL1A1,COX11,DGKE,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,HLF,ITGA3,KAT7,KIF2B,LOC284080,LRRC59,LUC7L3,MBTD1,MIR3614,MMD,MRPL27,MSI2,MTVR2,MYCBPAP,NME1,NME1-NME2,NME2,NOG,NXPH3,PCTP,PDK2,PPP1R9B,RNF126P1,RSAD1,SAMD14,SCPEP1,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,STXBP4,TAC4,TMEM100,TMEM92,TOB1,TOB1-AS1,TOM1L1,TRIM25,UTP18,WFIKKN2,XYLT2 chr17 47600000 78774742 Copy number Cancer ICA method 16751803 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ACE,ACOX1,ACSF2,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COX11,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM20A,FBF1,FDXR,FLJ45079,FLJ45513,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HILS1,HLF,HN1,HSF5,ICAM2,ICT1,INTS2,ITGA3,ITGB4,JMJD6,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,LRRC59,LUC7L3,MAP2K6,MAP3K3,MARCH10,MBTD1,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MRC2,MRPL27,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYO15B,NACA2,NAT9,NME1,NME1-NME2,NME2,NOG,NOL11,NPTX1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PPP1R9B,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,RSAD1,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC35B1,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPAG9,SPATA20,SPHK1,SPOP,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM235,TMEM92,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,XYLT2,YPEL2,ZACN chr17 47600000 78774742 Gain Gastrointestinal stromal cancer array CGH 16982739 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ACE,ACOX1,ACSF2,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COL1A1,COX11,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DGKE,DHX40,DLX3,DLX4,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM117A,FAM20A,FBF1,FDXR,FLJ45079,FLJ45513,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HILS1,HLF,HN1,HSF5,ICAM2,ICT1,INTS2,ITGA3,ITGB4,JMJD6,KAT7,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC284080,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,LRRC59,LUC7L3,MAP2K6,MAP3K3,MARCH10,MBTD1,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MRC2,MRPL27,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYO15B,NACA2,NAT9,NME1,NME1-NME2,NME2,NOG,NOL11,NPTX1,NT5C,NUP85,NXPH3,OR4D1,OR4D2,OTOP2,OTOP3,PCTP,PDK2,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PPP1R9B,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,RSAD1,SAMD14,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SDK2,SEC14L1,SEPT4,SEPT9,SGCA,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC35B1,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPAG9,SPATA20,SPHK1,SPOP,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TAC4,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM235,TMEM92,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,XYLT2,YPEL2,ZACN chr17 47601996 47613853 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 47672000 49744000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 ABCC3,ACSF2,ANKRD40,CA10,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,ITGA3,KAT7,LOC284080,LRRC59,LUC7L3,MBTD1,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SLC35B1,SPAG9,SPATA20,SPOP,TAC4,TMEM92,TOB1,TOB1-AS1,UTP18,WFIKKN2,XYLT2 chr17 47673588 47674588 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr17 4776680 4778599 Gain and loss Pancreatic cancer SNP array 17952125 MINK1 chr17 4776680 4778599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4777459 4778164 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MINK1 chr17 47784703 47817990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM117A,SLC35B1 chr17 47810325 49253052 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCC3,ACSF2,ANKRD40,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,ITGA3,KAT7,LOC284080,LRRC59,LUC7L3,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SPAG9,SPATA20,TAC4,TMEM92,TOB1,TOB1-AS1,WFIKKN2,XYLT2 chr17 4781349 4784063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4781349 4784063 Gain and loss Pancreatic cancer SNP array 17952125 MINK1 chr17 4781349 4784063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4781829 4789260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4781829 4789260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 47834921 48652790 LOH Normal High-resolution SNP genotyping 21211785 ACSF2,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,DLX3,DLX4,EME1,EPN3,FAM117A,FLJ45513,HILS1,ITGA3,KAT7,LOC284080,LRRC59,MRPL27,MYCBPAP,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SPATA20,TAC4,TMEM92,XYLT2 chr17 4784375 4789260 Gain and loss Pancreatic cancer SNP array 17952125 MINK1 chr17 47862392 48021044 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ45513,KAT7,TAC4 chr17 4789697 4792570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4789697 4792570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MINK1 chr17 4789697 4792575 Gain and loss Pancreatic cancer SNP array 17952125 MINK1 chr17 4795131 4801150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRNE,MINK1 chr17 4795131 4801150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNE,MINK1 chr17 4795159 4801147 Gain and loss Pancreatic cancer SNP array 17952125 CHRNE,MINK1 chr17 48001681 48001751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 48008817 48019245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 48021001 48021093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 48024502 48035145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 4803243 4811856 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 C17orf107,CHRNE chr17 4803246 4811856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf107,CHRNE chr17 4803246 4811856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf107,CHRNE chr17 4803353 4811832 Gain and loss Pancreatic cancer SNP array 17952125 C17orf107,CHRNE chr17 48041388 48560164 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACSF2,CHAD,COL1A1,DLX3,DLX4,EME1,HILS1,ITGA3,LOC284080,LRRC59,MRPL27,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,TMEM92,XYLT2 chr1 74804637 74804737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FPGT-TNNI3K,TNNI3K chr1 74806386 74912010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FPGT-TNNI3K,TNNI3K chr1 74806386 74912010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FPGT-TNNI3K,TNNI3K chr17 48067733 48067833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLX3 chr17 4812017 4831655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 4812017 4831675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4812017 4831675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 48120601 49613300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCC3,ACSF2,ANKRD40,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,EME1,EPN3,HILS1,ITGA3,LOC284080,LRRC59,LUC7L3,MBTD1,MRPL27,MYCBPAP,NME1,NME1-NME2,NME2,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SPAG9,SPATA20,TMEM92,TOB1,TOB1-AS1,UTP18,WFIKKN2,XYLT2 chr17 48132 48166 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 NOT_FOUND chr17 48134446 48901547 LOH Normal High-resolution SNP genotyping 21211785 ABCC3,ACSF2,ANKRD40,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,EME1,EPN3,HILS1,ITGA3,LRRC59,LUC7L3,MRPL27,MYCBPAP,PDK2,PPP1R9B,RSAD1,SAMD14,SGCA,SPATA20,TMEM92,XYLT2 chr17 48249007 48698607 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1104K arrays 21546498 ACSF2,CACNA1G,CACNA1G-AS1,CHAD,COL1A1,EME1,EPN3,HILS1,LRRC59,MRPL27,MYCBPAP,RSAD1,SGCA,SPATA20,TMEM92,XYLT2 chr17 48287887 78774742 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1084K arrays 21546498 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ABCC3,ACE,ACOX1,ACSF2,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,ANKRD40,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA10,CA4,CACNA1G,CACNA1G-AS1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CHAD,CLTC,COG1,COIL,COX11,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DGKE,DHX40,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,EME1,ENDOV,ENGASE,ENPP7,EPN3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HLF,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,LRRC59,LUC7L3,MAP2K6,MAP3K3,MARCH10,MBTD1,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MRC2,MRPL27,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYCBPAP,MYO15B,NACA2,NAT9,NME1,NME1-NME2,NME2,NOG,NOL11,NPTX1,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PCTP,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,RSAD1,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SDK2,SEC14L1,SEPT4,SEPT9,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPAG9,SPATA20,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM235,TMEM92,TNRC6C,TOB1,TOB1-AS1,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,UTP18,VEZF1,VMP1,WBP2,WFIKKN2,WIPI1,XYLT2,YPEL2,ZACN chr17 48308592 48669406 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ACSF2,CACNA1G,CACNA1G-AS1,CHAD,EME1,EPN3,LRRC59,MRPL27,MYCBPAP,RSAD1,SPATA20,TMEM92,XYLT2 chr17 48310000 48670000 Deletion Schizophrenia BAC array CGH 17989066 ACSF2,CACNA1G,CACNA1G-AS1,CHAD,EME1,EPN3,LRRC59,MRPL27,MYCBPAP,RSAD1,SPATA20,TMEM92,XYLT2 chr17 4831026 4831696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4832149 4841629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GP1BA,SLC25A11 chr17 4832149 4841629 Gain and loss Pancreatic cancer SNP array 17952125 GP1BA,SLC25A11 chr17 4832149 4841629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GP1BA,SLC25A11 chr17 48339159 48339235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 48369345 48606237 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACSF2,CHAD,EME1,LRRC59,MRPL27,MYCBPAP,RSAD1,XYLT2 chr17 48369345 48627779 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ACSF2,CHAD,EME1,EPN3,LRRC59,MRPL27,MYCBPAP,RSAD1,SPATA20,XYLT2 chr17 48369345 48627779 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACSF2,CHAD,EME1,EPN3,LRRC59,MRPL27,MYCBPAP,RSAD1,SPATA20,XYLT2 chr17 48400884 48434530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 XYLT2 chr17 48417879 48420011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 4841957 4876639 Gain and loss Pancreatic cancer SNP array 17952125 CAMTA2,ENO3,PFN1,RNF167,SLC25A11,SPAG7 chr17 4841971 4868721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENO3,PFN1,RNF167,SLC25A11,SPAG7 chr17 4841971 4868721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENO3,PFN1,RNF167,SLC25A11,SPAG7 chr17 48475004 48475088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 48539 13891992 Deletion Acute myeloid leukemia - 21251322 ABR,ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO1C,MYOCD,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF594,ZZEF1 chr17 48539 22427632 Deletion Acute myeloid leukemia - 21251322 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 48539 4044849 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 ABR,ASPA,ATP2A3,BHLHA9,C17orf85,C17orf97,CAMKK1,CRK,CTNS,DBIL5P,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GLOD4,GSG2,HIC1,INPP5K,ITGAE,KIAA0664,LOC100506388,LOC284009,METTL16,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PITPNA,PITPNA-AS1,PRPF8,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SPATA22,SRR,TAX1BP3,TIMM22,TLCD2,TRPV1,TRPV3,TSR1,TUSC5,VPS53,WDR81,YWHAE,ZZEF1 chr17 48539 4746522 Increase Cancer CGH 20581869 ABR,ALOX15,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf85,C17orf97,CAMKK1,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DPH1,EMC6,FAM101B,FAM57A,GEMIN4,GGT6,GLOD4,GLTPD2,GSG2,HIC1,INPP5K,ITGAE,KIAA0664,LOC100506388,LOC284009,MED11,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYBBP1A,MYO1C,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PITPNA,PITPNA-AS1,PLD2,PRPF8,PSMB6,RAP1GAP2,RILP,RNMTL1,RPA1,RPH3AL,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SHPK,SLC43A2,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,UBE2G1,VMO1,VPS53,WDR81,YWHAE,ZMYND15,ZZEF1 chr1 7485501 7488500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr17 48560164 48833204 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC3,ANKRD40,CACNA1G,CACNA1G-AS1,EPN3,LUC7L3,MYCBPAP,RSAD1,SPATA20 chr17 48575206 48874340 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ABCC3,ANKRD40,CACNA1G,CACNA1G-AS1,EPN3,LUC7L3,MYCBPAP,SPATA20 chr17 48677741 48677813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1G chr17 48737405 48737539 Amplification or deletion Cancer Array CGH 17440070 ABCC3 chr17 48764615 48764715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC3 chr17 4876622 4879445 Gain and loss Pancreatic cancer SNP array 17952125 CAMTA2 chr17 4876624 4879451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMTA2 chr17 4876624 4879451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMTA2 chr17 48782357 48811692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD40,LUC7L3 chr17 48798417 48798517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LUC7L3 chr1 74883205 74910755 Gain and loss Pancreatic cancer SNP array 17952125 FPGT-TNNI3K,TNNI3K chr17 48833204 49543108 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MBTD1,NME1,NME1-NME2,NME2,SPAG9,TOB1,TOB1-AS1,UTP18,WFIKKN2 chr1 74883582 74883682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FPGT-TNNI3K,TNNI3K chr1 7488501 7622500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr17 48882141 48882200 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr17 48919035 48919097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WFIKKN2 chr17 48969873 48969964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 48971161 48971261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 49000 9649000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ABR,ACADVL,ACAP1,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,AURKB,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC42,CD68,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHX33,DLG4,DNAH2,DPH1,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GPS2,GSG2,GUCY2D,HES7,HIC1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,LINC00324,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC728392,LSMD1,MED11,MED31,METTL16,MFSD6L,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIS12,MNT,MPDU1,MYBBP1A,MYH10,MYO1C,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PER1,PFAS,PFN1,PHF23,PIK3R5,PIK3R6,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLSCR3,POLR2A,PRPF8,PSMB6,RABEP1,RANGRF,RAP1GAP2,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORA48,SNORA67,SNORD10,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPEM1,SPNS2,SPNS3,SRR,STX8,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr1 74900141 74900237 Gain and loss Pancreatic cancer SNP array 17952125 FPGT-TNNI3K,TNNI3K chr1 74903573 75638278 LOH Normal High-resolution SNP genotyping 21211785 C1orf173,CRYZ,FPGT-TNNI3K,LHX8,TNNI3K,TYW3 chr17 49068262 49069731 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SPAG9 chr1 74907657 74910313 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FPGT-TNNI3K,TNNI3K chr17 49087297 49087397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG9 chr1 74910861 74943329 Gain and loss Pancreatic cancer SNP array 17952125 FPGT-TNNI3K,TNNI3K chr17 49172701 49173047 Loss Normal 244K array 17666407 SPAG9 chr1 7491802 7494108 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CAMTA1 chr17 49181728 49189408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPAG9 chr17 49188561 49218641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPAG9 chr17 49189349 49190230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG9 chr17 49204620 49211902 Loss Normal 244K array 17666407 NOT_FOUND chr17 49207046 49214646 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 49207046 49214646 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr17 49207786 49215747 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 74920824 74920880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FPGT-TNNI3K,TNNI3K chr17 49208291 49216229 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 4922477 4940393 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 KIF1C,SLC52A1 chr17 4922478 4940392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF1C,SLC52A1 chr17 4922478 4940392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1C,SLC52A1 chr17 4922478 4940395 Gain and loss Pancreatic cancer SNP array 17952125 KIF1C,SLC52A1 chr17 49226591 49227308 Loss Normal 244K array 17666407 NOT_FOUND chr17 49230119 49230189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7492405 7494002 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 CAMTA1 chr1 7492405 7494002 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CAMTA1 chr1 74924520 75083945 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf173,FPGT-TNNI3K,TNNI3K chr17 492510 492610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS53 chr17 49253052 50881678 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CA10,MBTD1,UTP18 chr17 49255261 49257572 Gain and loss Pancreatic cancer SNP array 17952125 MBTD1 chr17 49255300 49257553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBTD1 chr17 49255300 49257553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBTD1 chr1 7492658 7494097 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAMTA1 chr17 49284284 49458197 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 MBTD1,UTP18 chr17 49285137 49285237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBTD1 chr17 49317521 52271251 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 C17orf112,CA10,KIF2B,MBTD1,UTP18 chr17 49373406 49373506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UTP18 chr17 493901 498600 Deletion Glioma mate-paired sequence 20126413 VPS53 chr1 74943758 74971333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FPGT-TNNI3K,TNNI3K chr1 74943758 74971333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FPGT-TNNI3K,TNNI3K chr17 49444406 49449022 Duplication Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 NOT_FOUND chr17 49444939 49478956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 4949757 4967121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 4949757 4967121 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 4949757 4967121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 49504217 49504317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 49513663 49523000 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 49515609 49525095 Gain Normal 244K array 17666407 NOT_FOUND chr17 495756 496775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VPS53 chr17 4960456 5019048 Gain or loss Breast cancer - 20668451 ZFP3,ZNF232 chr17 4960456 5019048 Gain or loss Cancer - 20668451 ZFP3,ZNF232 chr17 4960456 5019048 Gain or loss Lung cancer - 20668451 ZFP3,ZNF232 chr17 4960456 5019048 Gain or loss Ovarian cancer - 20668451 ZFP3,ZNF232 chr17 4960456 5019048 Gain or loss Pancreas cancer - 20668451 ZFP3,ZNF232 chr17 4960456 5019048 Gain or loss Prostate cancer - 20668451 ZFP3,ZNF232 chr17 4960457 5019053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFP3,ZNF232 chr17 4960457 5019053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFP3,ZNF232 chr1 74960708 74960804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FPGT-TNNI3K,TNNI3K chr17 49613301 50701200 Copy number Normal ReadDepth: A Parallel R Package 21305028 CA10 chr1 74961551 74961651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FPGT-TNNI3K,TNNI3K chr17 49629110 49629210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 49639635 49639720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 4964001 4983500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZFP3 chr17 49705575 49714060 Gain Neuroblastoma References 19638189 CA10 chr1 74971428 75003896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FPGT-TNNI3K,TNNI3K chr1 74971428 75003896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FPGT-TNNI3K,TNNI3K chr17 49718535 49723742 Gain Neuroblastoma References 19638189 CA10 chr17 4972411 5019048 Gain and loss Pancreatic cancer SNP array 17952125 ZFP3,ZNF232 chr17 4972526 4983202 Copy number gain Normal High-resolution SNP genotyping 21211785 ZFP3 chr17 49737422 49737522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CA10 chr17 4983202 12108575 LOH Normal High-resolution SNP genotyping 21211785 ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C1QBP,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIR744,MIS12,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PITPNM3,PLSCR3,POLR2A,RABEP1,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPAIN,RPL26,RPL29P2,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,USP6,VAMP2,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZFP3,ZNF18,ZNF232,ZNF594 chr17 4983202 5025557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ZFP3,ZNF232 chr17 49852333 49852397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CA10 chr17 49865014 49900406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CA10 chr17 4986617 5007072 Insert Cancer ultra-high resolution array CGH 21272361 ZFP3 chr17 49902764 49912087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CA10 chr17 49910162 49910478 Gain and loss Pancreatic cancer SNP array 17952125 CA10 chr17 49913041 49948159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CA10 chr17 4992337 6501035 LOH Normal High-resolution SNP genotyping 21211785 AIPL1,C1QBP,DERL2,DHX33,FAM64A,KIAA0753,LOC100130950,LOC339166,LOC728392,MIS12,NLRP1,NUP88,PITPNM3,RABEP1,RPAIN,SCIMP,USP6,WSCD1,ZFP3,ZNF232,ZNF594 chr1 74993815 74993915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FPGT-TNNI3K,TNNI3K chr17 49962685 49962785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CA10 chr17 49966382 49966748 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CA10 chr17 49968612 49968712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CA10 chr17 49979148 50010749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CA10 chr17 49979972 51782036 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C17orf112,CA10 chr17 49995572 49995667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CA10 chr17 50022081 50022174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CA10 chr17 50060176 50060225 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CA10 chr17 50083270 50083370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CA10 chr17 50112652 78774742 Gain Medulloblastoma array-CGH 16783165 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA10,CA4,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,COIL,COX11,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DGKE,DHX40,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HLF,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MRC2,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYO15B,NACA2,NAT9,NOG,NOL11,NPTX1,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PCTP,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SDK2,SEC14L1,SEPT4,SEPT9,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM235,TNRC6C,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,VEZF1,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 50138864 50139537 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CA10 chr17 5016545 5016645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF232 chr17 50200000 61100000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AKAP1,ANKFN1,APPBP2,BCAS3,BRIP1,BZRAP1,BZRAP1-AS1,C17orf112,C17orf47,C17orf64,C17orf67,C17orf82,CA10,CA4,CLTC,COIL,COX11,CUEDC1,DGKE,DHX40,DYNLL2,EFCAB3,EPX,GDPD1,HEATR6,HLF,HSF5,INTS2,KIF2B,LOC645638,LOC653653,LPO,MARCH10,MED13,METTL2A,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MIR4737,MIR548W,MKS1,MMD,MPO,MRC2,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,NOG,OR4D1,OR4D2,PCTP,PPM1D,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,STXBP4,SUPT4H1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TEX14,TLK2,TMEM100,TOM1L1,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 50200000 70900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,AKAP1,AMZ2,AMZ2P1,ANKFN1,APOH,APPBP2,ARSG,AXIN2,BCAS3,BPTF,BRIP1,BZRAP1,BZRAP1-AS1,C17orf112,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf82,CA10,CA4,CACNG1,CACNG4,CACNG5,CCDC47,CD79B,CEP112,CEP95,CLTC,COIL,COX11,CSH1,CSH2,CSHL1,CUEDC1,CYB561,DCAF7,DDX42,DDX5,DGKE,DHX40,DYNLL2,EFCAB3,EPX,ERN1,FAM20A,FTSJ3,GDPD1,GH1,GH2,GNA13,HEATR6,HELZ,HLF,HSF5,ICAM2,INTS2,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KIF2B,KPNA2,LIMD2,LINC00511,LINC00673,LINC00674,LOC146880,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR5047,MIR548W,MIR634,MIR635,MKS1,MMD,MPO,MRC2,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,NOG,NOL11,OR4D1,OR4D2,PCTP,PECAM1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRKAR1A,PRKCA,PRR11,PSMC5,PSMD12,PTRH2,RAD51C,RGS9,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCN4A,SCPEP1,SEPT4,SKA2,SLC16A6,SLC39A11,SMARCD2,SMG8,SMURF2,SNORA38B,SNORA76,SNORD104,SOX9,SRSF1,STRADA,STXBP4,SUPT4H1,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX14,TEX2,TLK2,TMEM100,TOM1L1,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,WIPI1,YPEL2 chr17 5023554 5035902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP6,ZNF232 chr17 5023554 5035902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP6,ZNF232 chr17 5025557 12108575 LOH Normal High-resolution SNP genotyping 21211785 ACADVL,ACAP1,ADPRM,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C1QBP,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DERL2,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100130950,LOC100506713,LOC284023,LOC339166,LOC728392,LSMD1,MAGOH2,MAP2K4,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MIR744,MIS12,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NLRP1,NTN1,NUP88,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PITPNM3,PLSCR3,POLR2A,RABEP1,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPAIN,RPL26,RPL29P2,SAT2,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,USP6,VAMP2,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4,ZNF18,ZNF232,ZNF594 chr17 5025852 5028317 Gain and loss Pancreatic cancer SNP array 17952125 ZNF232 chr17 50259187 50259238 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr17 50283029 50283129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 50288737 50288968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 75031501 75535189 LOH Normal High-resolution SNP genotyping 21211785 C1orf173,CRYZ,TYW3 chr17 50319861 50319961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 50333203 50394309 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 50333203 50394309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50333203 50394309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 50333203 50394309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50338365 50369954 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 50384266 50401053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 50384266 50401053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50384266 50401053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 50384266 50401053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50386310 50386904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 50398506 50398677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 50401125 50596448 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 50401125 50596448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50401125 50596448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50401155 50477136 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 75044393 75044425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf173 chr17 504562 25958123 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,KSR1,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4522,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MTRNR2L1,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TBC1D3P5,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSB1,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr1 75049175 75953808 LOH Normal High-resolution SNP genotyping 21211785 C1orf173,CRYZ,LHX8,SLC44A5,TYW3 chr17 50508768 50508860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5052980 5078861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP6 chr17 5052980 5078861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP6 chr17 50531618 50531718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5054430 5067496 Gain and loss Pancreatic cancer SNP array 17952125 USP6 chr17 5054624 5078807 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 USP6 chr17 5058074 5059316 Gain and loss Pancreatic cancer SNP array 17952125 USP6 chr17 5067461 6967461 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 AIPL1,ALOX12,ALOX12P2,ALOX15P1,BCL6B,C17orf100,C17orf49,C1QBP,DERL2,DHX33,FAM64A,FBXO39,KIAA0753,LOC100130950,LOC100506713,LOC339166,LOC728392,MED31,MIR195,MIR4520A,MIR4520B,MIR497,MIR497HG,MIS12,NLRP1,NUP88,PITPNM3,RABEP1,RNASEK,RNASEK-C17ORF49,RPAIN,SCIMP,SLC13A5,SLC16A11,SLC16A13,TEKT1,TXNDC17,USP6,WSCD1,XAF1,ZNF594 chr17 506784 507537 Gain and loss Pancreatic cancer SNP array 17952125 VPS53 chr17 50697320 50757425 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 50697320 50757425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50697320 50757425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50697370 50755884 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 50701201 51940900 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf112,KIF2B chr17 50758835 50758937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50774017 50774049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 50818383 50820416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 50824973 50854340 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 50824973 50854340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50824973 50854340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50824974 50854318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 50847379 51683515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf112 chr17 5087966 5089180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF594 chr17 50885121 50885221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 50892723 70290352 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,AKAP1,AMZ2,AMZ2P1,ANKFN1,APOH,APPBP2,ARSG,AXIN2,BCAS3,BPTF,BRIP1,BZRAP1,BZRAP1-AS1,C17orf112,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf82,CA4,CACNG1,CACNG4,CACNG5,CCDC47,CD79B,CEP112,CEP95,CLTC,COIL,COX11,CSH1,CSH2,CSHL1,CUEDC1,CYB561,DCAF7,DDX42,DDX5,DGKE,DHX40,DYNLL2,EFCAB3,EPX,ERN1,FAM20A,FTSJ3,GDPD1,GH1,GH2,GNA13,HEATR6,HELZ,HLF,HSF5,ICAM2,INTS2,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KIF2B,KPNA2,LIMD2,LINC00674,LOC146880,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR5047,MIR548W,MIR634,MIR635,MKS1,MMD,MPO,MRC2,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,NOG,NOL11,OR4D1,OR4D2,PCTP,PECAM1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRKAR1A,PRKCA,PRR11,PSMC5,PSMD12,PTRH2,RAD51C,RGS9,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCN4A,SCPEP1,SEPT4,SKA2,SLC16A6,SMARCD2,SMG8,SMURF2,SNORA38B,SNORA76,SNORD104,SOX9,SRSF1,STRADA,STXBP4,SUPT4H1,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX14,TEX2,TLK2,TMEM100,TOM1L1,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,WIPI1,YPEL2 chr17 5091143 5091200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF594 chr17 50913698 78599918 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AKAP1,AMZ2,AMZ2P1,ANKFN1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf112,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA4,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,COIL,COX11,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DGKE,DHX40,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HLF,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KIF2B,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MMD,MPO,MRC2,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYO15B,NACA2,NAT9,NOG,NOL11,NPTX1,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PCTP,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SDK2,SEC14L1,SEPT4,SEPT9,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,STXBP4,SUMO2,SUPT4H1,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM100,TMEM104,TMEM235,TNRC6C,TOM1L1,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,VEZF1,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 5091377 5134537 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100130950,SCIMP,ZNF594 chr17 50965242 50965342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 50972609 50972709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 50974341 50974401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 50984170 50984280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 50984170 50984282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 50984170 50984284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 5100695 5115503 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100130950,SCIMP chr17 51021664 51054124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 51084764 51084853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75112511 75112606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf173 chr17 51151989 51155141 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 51151989 51164481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 51151989 51164481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 51152278 51164444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 51160772 51160872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51166013 51166108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75117836 75150621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1orf173 chr17 51183355 51209747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 51183355 51209747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 51183413 51209733 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 51183413 51209733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 751231 755963 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 5126281 5229856 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LOC100130950,RABEP1,SCIMP chr17 5126281 5229856 Gain or loss Breast cancer - 20668451 LOC100130950,RABEP1,SCIMP chr17 5126281 5229856 Gain or loss Cancer - 20668451 LOC100130950,RABEP1,SCIMP chr17 5126281 5229856 Gain or loss Lung cancer - 20668451 LOC100130950,RABEP1,SCIMP chr17 5126281 5229856 Gain or loss Ovarian cancer - 20668451 LOC100130950,RABEP1,SCIMP chr17 5126281 5229856 Gain or loss Pancreas cancer - 20668451 LOC100130950,RABEP1,SCIMP chr17 5126281 5229856 Gain or loss Prostate cancer - 20668451 LOC100130950,RABEP1,SCIMP chr17 5126317 5227242 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130950,RABEP1,SCIMP chr17 5126331 5227242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130950,RABEP1,SCIMP chr17 5126524 5126624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100130950,SCIMP chr17 51292515 51576678 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr1 75130900 75130980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf173 chr17 5131273 5131367 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100130950,SCIMP chr17 5132770 5177353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100130950,SCIMP chr17 51346804 52558528 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 KIF2B chr17 51403925 51404014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51427895 51428094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51469520 51469668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75148054 75148204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51513197 51527433 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51513197 51527433 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51513197 51529003 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51513197 51529003 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51513197 51529003 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51514372 51529003 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51514372 51529003 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51515177 51527956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 51515584 51526822 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51515584 51526822 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51515584 51529003 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51515584 51529003 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 51515901 51527590 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 51515901 51531391 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 51515913 51527590 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 51580080 51580180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51581868 51581968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51585790 51585839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51585835 51915006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF2B chr17 51585835 51915006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF2B chr17 51585841 51915006 Gain and loss Pancreatic cancer SNP array 17952125 KIF2B chr17 51628052 51660332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 51674459 51674491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51680612 51680712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51714101 51714201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51782036 52136988 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 KIF2B chr17 51834885 51869439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 51904281 51904381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51924546 51943629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 51926523 51926623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 51940901 52699900 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 51954495 51957654 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 52026001 52029000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 52026274 52027542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52026274 52027542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52026274 52027546 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52035441 52035522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 52060081 52061172 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr17 52085578 58300000 Loss Breast cancer oligonucleotide CGH arrays 19602461 AKAP1,ANKFN1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,CA4,CLTC,COIL,COX11,CUEDC1,DGKE,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HLF,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MMD,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NOG,OR4D1,OR4D2,PCTP,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,STXBP4,SUPT4H1,TBC1D3P1-DHX40P1,TEX14,TMEM100,TOM1L1,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 52115578 52120407 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 52115894 52434492 Loss Normal 244K array 17666407 NOT_FOUND chr1 75217756 75217846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TYW3 chr17 52180745 52205025 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 52224273 52266256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52224273 52266256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52248000 61848000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ACE,AKAP1,ANKFN1,APPBP2,BCAS3,BRIP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf64,C17orf67,C17orf82,CA4,CCDC47,CLTC,COIL,COX11,CUEDC1,CYB561,DCAF7,DGKE,DHX40,DYNLL2,EFCAB3,EPX,GDPD1,HEATR6,HLF,HSF5,INTS2,KCNH6,LIMD2,LOC645638,LOC653653,LOC729683,LPO,MAP3K3,MARCH10,MED13,METTL2A,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MIR4737,MIR548W,MKS1,MMD,MPO,MRC2,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,NOG,OR4D1,OR4D2,PCTP,PPM1D,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,STRADA,STXBP4,SUPT4H1,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TEX14,TLK2,TMEM100,TOM1L1,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 52266552 52295922 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52266552 52295922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52277690 52277790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 52278105 52278205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5228714 5228990 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RABEP1 chr17 5228714 5228990 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 RABEP1 chr17 52293072 52293602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 5230143 5263720 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RABEP1 chr17 5230144 5263720 Gain and loss Pancreatic cancer SNP array 17952125 RABEP1 chr17 5230146 5263720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RABEP1 chr17 5230146 5263720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABEP1 chr17 5230156 5232894 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RABEP1 chr17 52302582 52308412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 52303530 52303636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52303530 52303636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52320269 52346408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52320269 52346408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 5232251 5278889 Amplification or deletion Cancer Array CGH 17440070 RABEP1 chr17 52323568 52346392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52370562 52393403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52370562 52393410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52370562 52393410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52410467 52439126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52410467 52439126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52410488 52448452 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52443666 52490415 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 52444724 52450647 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 52445032 52447654 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 52445066 53148466 Loss Normal 244K array 17666407 COX11,STXBP4,TOM1L1 chr17 52477838 52479154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52477838 52479154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52477838 52479154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52488382 52488452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5249038 5249718 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RABEP1 chr17 52494657 52494757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 52517552 52553709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52517552 52553709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52517620 52553608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52558528 54005865 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 COX11,HLF,MMD,PCTP,STXBP4,TMEM100,TOM1L1 chr17 52620000 57300000 Amplification Sezary syndrome Array-based CGH 18413736 AKAP1,ANKFN1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,COIL,COX11,CUEDC1,DGKE,DYNLL2,EPX,GDPD1,HLF,HSF5,LPO,MIR142,MIR301A,MIR3614,MIR454,MIR4736,MKS1,MMD,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NOG,OR4D1,OR4D2,PCTP,PPM1E,PRR11,RAD51C,RNF126P1,RNF43,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,STXBP4,SUPT4H1,TEX14,TMEM100,TOM1L1,TRIM25,TRIM37,VEZF1 chr17 5263684 5276920 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RABEP1 chr17 5263685 5276920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RABEP1 chr17 5263685 5276920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABEP1 chr17 5264242 5272371 Gain and loss Pancreatic cancer SNP array 17952125 RABEP1 chr17 52649907 52650907 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr17 52651495 52651556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52651495 52651556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 52663404 52696012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 52688929 53112298 Gain or loss Breast cancer - 20668451 COX11,STXBP4,TOM1L1 chr17 52688929 53112298 Gain or loss Cancer - 20668451 COX11,STXBP4,TOM1L1 chr17 52688929 53112298 Gain or loss Lung cancer - 20668451 COX11,STXBP4,TOM1L1 chr17 52688929 53112298 Gain or loss Ovarian cancer - 20668451 COX11,STXBP4,TOM1L1 chr17 52688929 53112298 Gain or loss Pancreas cancer - 20668451 COX11,STXBP4,TOM1L1 chr17 52688929 53112298 Gain or loss Prostate cancer - 20668451 COX11,STXBP4,TOM1L1 chr17 52688930 53112298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COX11,STXBP4,TOM1L1 chr17 52688930 53112298 Gain and loss Pancreatic cancer SNP array 17952125 COX11,STXBP4,TOM1L1 chr17 52688930 53112298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX11,STXBP4,TOM1L1 chr17 52689497 52689886 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 5269338 5275700 Gain and loss Pancreatic cancer SNP array 17952125 RABEP1 chr17 5269338 5275700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABEP1 chr17 52694764 52695764 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr17 52699901 53813100 Copy number Normal ReadDepth: A Parallel R Package 21305028 COX11,HLF,MMD,STXBP4,TMEM100,TOM1L1 chr17 52710280 52712377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 52710674 52711053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 527137 561549 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VPS53 chr17 527 295960 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C17orf97,DOC2B,FAM101B,LOC100506388,RPH3AL chr17 52731616 52731716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5276822 5283195 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 RABEP1 chr17 5276823 5283195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RABEP1 chr17 5276823 5283195 Gain and loss Pancreatic cancer SNP array 17952125 RABEP1 chr17 5276823 5283195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABEP1 chr17 5279813 5280802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RABEP1 chr17 52807635 52807735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 52816480 52818155 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 52831501 53292500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COX11,STXBP4,TOM1L1 chr17 52845701 52846502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 52846909 52847006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5286320 5312905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP88,RABEP1 chr17 5286320 5312905 Gain and loss Pancreatic cancer SNP array 17952125 NUP88,RABEP1 chr17 5286320 5312905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP88,RABEP1 chr17 52866361 52866455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7529185 7529265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 52984143 52984243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOM1L1 chr17 53006232 53006318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOM1L1 chr1 75301486 75301680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75301685 75301864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 53040801 53046700 Deletion Glioma mate-paired sequence 20126413 COX11,STXBP4 chr17 53041685 53045120 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 COX11 chr17 53042809 53044913 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COX11 chr17 53042845 53044836 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 COX11 chr17 53050468 53050740 Gain and loss Pancreatic cancer SNP array 17952125 STXBP4 chr17 53050468 53050740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP4 chr17 53050468 53050758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP4 chr17 53060482 53060576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP4 chr1 75306140 75339237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53086257 53086357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP4 chr17 53096301 53096381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP4 chr17 53096769 53122168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STXBP4 chr17 5311235 5330213 Gain and loss Pancreatic cancer SNP array 17952125 NUP88,RPAIN chr17 53116491 54652064 Copy number Lung cancer paired-end sequencing 18438408 ANKFN1,HLF,MMD,PCTP,STXBP4,TMEM100 chr17 5314504 5353626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QBP,DHX33,NUP88,RPAIN chr17 53176841 53177672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP4 chr17 53177171 53177632 Gain and loss Pancreatic cancer SNP array 17952125 STXBP4 chr17 5318337 5330221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP88,RPAIN chr17 5318337 5330221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP88,RPAIN chr17 53215366 53215466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP4 chr17 53221809 53222055 Gain and loss Pancreatic cancer SNP array 17952125 STXBP4 chr17 53221809 53222098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP4 chr17 53221809 53222108 Gain and loss Pancreatic cancer SNP array 17952125 STXBP4 chr17 53223618 53223751 Gain and loss Pancreatic cancer SNP array 17952125 STXBP4 chr17 53223618 53223751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP4 chr17 53253091 53777409 LOH Normal High-resolution SNP genotyping 21211785 HLF,MMD chr17 53271841 53282398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53271847 53282407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53271847 53282407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53272285 53272614 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 53272757 53281214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 53284802 54732597 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,HLF,MMD,NOG,PCTP,TMEM100 chr17 53292501 53338000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 53295336 53387683 Gain and loss Pancreatic cancer SNP array 17952125 HLF chr17 53295336 53387683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HLF chr17 5330439 5334854 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 RPAIN chr17 5330440 5334858 Gain and loss Pancreatic cancer SNP array 17952125 RPAIN chr17 5330632 5334857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPAIN chr17 5330632 5334857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPAIN chr1 75335695 75368749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 75336213 76555896 LOH Normal High-resolution SNP genotyping 21211785 ACADM,ASB17,LHX8,MSH4,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,ST6GALNAC3 chr17 53373550 53373650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HLF chr17 53403908 53420614 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 53403909 53420614 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53403909 53420614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53403909 53420614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53406119 53420512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53421772 53422140 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53431582 53431682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 53433283 53439706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53433283 53439706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53433283 53439706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 5343472 5428548 Gain and loss Pancreatic cancer SNP array 17952125 DERL2,DHX33,LOC728392,MIS12,NLRP1 chr17 5343483 5345189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHX33 chr17 5343483 5345189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX33 chr17 53435854 53439587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53447086 53447181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 53447580 54102876 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MMD,PCTP,TMEM100 chr17 5345443 5428556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DERL2,DHX33,LOC728392,MIS12,NLRP1 chr17 5345443 5428556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DERL2,DHX33,LOC728392,MIS12,NLRP1 chr17 5345858 5428001 Gain and loss Pancreatic cancer SNP array 17952125 DERL2,DHX33,LOC728392,MIS12,NLRP1 chr17 53515798 53521810 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53515798 53521810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53515798 53521810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53515812 53521810 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 535165 5337797 Copy number Autism exome sequencing 22495311 ABR,ALOX15,ANKFY1,ARRB2,ASPA,ATP2A3,BHLHA9,C17orf107,C17orf85,C1QBP,CAMKK1,CAMTA2,CHRNE,CRK,CTNS,CXCL16,CYB5D2,DBIL5P,DPH1,EMC6,ENO3,FAM57A,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIF1C,LOC100130950,LOC284009,MED11,METTL16,MINK1,MIR1253,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYBBP1A,MYO1C,NUP88,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PITPNA,PITPNA-AS1,PLD2,PRPF8,PSMB6,RABEP1,RAP1GAP2,RILP,RNF167,RNMTL1,RPA1,RPAIN,RTN4RL1,SCARF1,SCIMP,SERPINF1,SERPINF2,SGSM2,SHPK,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,UBE2G1,USP6,VMO1,VPS53,WDR81,YWHAE,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 53521032 53521132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 53536328 53555847 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 53545335 53579759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 53562496 53568594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 5358253 5358313 Gain and loss Pancreatic cancer SNP array 17952125 DHX33 chr17 53585158 54908034 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,C17orf67,NOG,PCTP,TMEM100 chr17 53587514 53588446 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53587514 53588446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53587514 53588446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53587688 53588457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53589359 53590164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53589359 53590164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53589808 53589925 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53590949 54732597 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,NOG,PCTP,TMEM100 chr17 53590949 54908034 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,C17orf67,NOG,PCTP,TMEM100 chr17 53592666 53592749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 53599349 54732597 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,NOG,PCTP,TMEM100 chr17 53601761 53603689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53601761 53603689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53601761 53603689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53601780 53603689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 75360751 75360853 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53617001 53633000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 53625088 53636783 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53625088 53636783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53625088 53636783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53625207 53636783 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 7536294 7536384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 53630276 53915316 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 PCTP,TMEM100 chr17 53633001 53699500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 53637798 53651665 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53637798 53651665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53637802 53651600 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 75366707 75399806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 75366707 75399806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53670847 53700354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53670847 53700878 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53670847 53700878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53670847 53700878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53699501 53713000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 53701822 53741738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 53702216 53713295 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53702216 53713295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53702216 53713295 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53702216 53713295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 5371484 5371574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DHX33 chr17 53719312 53719387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 53722429 53733303 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 53733595 53761120 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53733597 53760477 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53733597 53760477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53734001 53771000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 53738052 53756583 Loss Normal - 20841430 NOT_FOUND chr17 53738052 53767652 Loss Autism - 20841430 NOT_FOUND chr17 53746984 54612022 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,PCTP,TMEM100 chr17 53746984 54614230 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,PCTP,TMEM100 chr17 53754668 53754802 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr17 53763592 53763678 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53763592 53763678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53777538 53784562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53777538 53784562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53777538 53784562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53779583 53783721 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 53784860 53849893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCTP,TMEM100 chr17 53784860 53849893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCTP,TMEM100 chr17 53786039 53848099 Gain and loss Pancreatic cancer SNP array 17952125 PCTP,TMEM100 chr17 53794276 55061287 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,C17orf67,COIL,DGKE,MIR3614,MTVR2,NOG,PCTP,SCPEP1,TMEM100,TRIM25 chr17 53794276 55094323 LOH Normal High-resolution SNP genotyping 21211785 ANKFN1,C17orf67,COIL,DGKE,MIR3614,MTVR2,NOG,PCTP,SCPEP1,TMEM100,TRIM25 chr17 53798397 53798547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM100 chr17 5380000 6640000 Loss Breast cancer aCGH 21509527 AIPL1,ALOX15P1,C17orf100,DERL2,FAM64A,KIAA0753,LOC339166,LOC728392,MED31,MIR4520A,MIR4520B,MIS12,NLRP1,PITPNM3,SLC13A5,TXNDC17,WSCD1 chr17 53804337 53804437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM100 chr17 53813101 53990200 Copy number Normal ReadDepth: A Parallel R Package 21305028 PCTP chr17 53821034 53907698 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PCTP chr1 75382999 76024923 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LHX8,SLC44A5 chr1 75384304 75788792 Gain and loss Pancreatic cancer SNP array 17952125 LHX8,SLC44A5 chr17 53852528 53920758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCTP chr17 53852528 53920758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCTP chr17 53852530 53920744 Gain and loss Pancreatic cancer SNP array 17952125 PCTP chr1 75385766 76334878 LOH Normal High-resolution SNP genotyping 21211785 ACADM,LHX8,MSH4,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C chr17 53858502 53858602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5386156 5489694 Amplification or deletion Cancer Array CGH 17440070 DERL2,LOC728392,MIS12,NLRP1 chr17 53872659 53875526 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr17 53915316 75065284 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AKAP1,AMZ2,AMZ2P1,ANKFN1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,CA4,CACNG1,CACNG4,CACNG5,CASKIN2,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,COIL,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,DCAF7,DDX42,DDX5,DGKE,DHX40,DNAI2,DYNLL2,EFCAB3,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FOXJ1,FTSJ3,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LIMD2,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100287042,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR4738,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MPO,MRC2,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYO15B,NACA2,NAT9,NOG,NOL11,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PECAM1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF43,RNFT1,RPL38,RPS6KB1,SAP30BP,SCARNA20,SCN4A,SCPEP1,SDK2,SEPT4,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOX9,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SUPT4H1,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TLK2,TMEM104,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,VEZF1,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 53921897 53950211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53921897 53950211 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53921897 53950211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53952615 53964410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53952615 53964410 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53952615 53964410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 75395266 76055869 LOH Normal High-resolution SNP genotyping 21211785 LHX8,SLC44A5 chr17 53957501 53965500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 53973947 53976682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53973947 53976682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53973947 53976682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53986606 53986645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 53988731 53988830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 53989037 54124415 Copy number Lung cancer - 20668451 NOT_FOUND chr17 53989037 54124415 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 53989037 54124415 Gain or loss Cancer - 20668451 NOT_FOUND chr17 53989037 54124415 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 53989037 54124415 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 53989037 54124415 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 53989037 54124415 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 53989039 54124415 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 53989041 54124415 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 53989041 54124415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53989041 54124415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 53990201 54142000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 53997375 54149948 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr17 54005865 54578068 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKFN1 chr17 54035464 54035614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5404002 5415364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC728392,NLRP1 chr17 5405463 5405786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NLRP1 chr17 54064002 54064196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54064022 54064196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54065942 54066022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54091509 54091656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54091509 54091665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54091513 54091656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54098897 54099057 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54098897 54099057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54098899 54099057 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54102876 54621652 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKFN1 chr17 54109934 54110093 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54109934 54110097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54111886 54112050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54111886 54112050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54111887 54112050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 75412339 75412409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54124933 54166685 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 54124961 54166691 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 54124961 54166691 Gain or loss Cancer - 20668451 NOT_FOUND chr17 54124961 54166691 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 54124961 54166691 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 54124961 54166691 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 54124961 54166691 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 54124962 54166689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54124962 54166689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54124962 54166689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54142001 54395000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKFN1 chr17 54158828 54159003 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 54188231 54417314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKFN1 chr17 54188231 54417314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54188231 54417314 Gain and loss Pancreatic cancer SNP array 17952125 ANKFN1 chr17 54188231 54417314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54211035 54211124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75421318 75421421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54258532 54258632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKFN1 chr17 54268259 54268336 Gain and loss Pancreatic cancer SNP array 17952125 ANKFN1 chr17 54268259 54268336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54347414 54347474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKFN1 chr17 54376429 54376508 Gain and loss Pancreatic cancer SNP array 17952125 ANKFN1 chr17 54376429 54376508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54383335 54383540 Gain and loss Pancreatic cancer SNP array 17952125 ANKFN1 chr17 54383335 54383540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54395001 54546800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKFN1 chr1 75440404 75849389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LHX8,SLC44A5 chr1 75440404 75849389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LHX8,SLC44A5 chr17 54414781 54539048 Gain or loss Breast cancer - 20668451 ANKFN1 chr17 54414781 54539048 Gain or loss Cancer - 20668451 ANKFN1 chr17 54414781 54539048 Gain or loss Lung cancer - 20668451 ANKFN1 chr17 54414781 54539048 Gain or loss Ovarian cancer - 20668451 ANKFN1 chr17 54414781 54539048 Gain or loss Pancreas cancer - 20668451 ANKFN1 chr17 54414781 54539048 Gain or loss Prostate cancer - 20668451 ANKFN1 chr17 54414793 54539011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKFN1 chr17 54414793 54539011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54414793 54539011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54421011 54421097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54430349 54538864 Gain and loss Pancreatic cancer SNP array 17952125 ANKFN1 chr17 54437361 54780416 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKFN1,NOG chr17 54440782 54440882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKFN1 chr17 54456984 54457984 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ANKFN1 chr17 54459879 54507711 Substitutions and indels small cell lung cancer array-CGH 20016488 ANKFN1 chr17 54499881 54499994 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 ANKFN1 chr17 54502170 54502270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKFN1 chr17 54511096 54512096 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ANKFN1 chr17 54512895 57988419 Substitutions and indels small cell lung cancer array-CGH 20016488 AKAP1,ANKFN1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,CLTC,COIL,CUEDC1,DGKE,DHX40,DYNLL2,EPX,GDPD1,HSF5,LPO,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NOG,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RPS6KB1,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TEX14,TRIM25,TRIM37,TUBD1,VEZF1,VMP1,YPEL2 chr17 54525481 54671830 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKFN1,NOG chr17 54542090 54587582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54542090 54587582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKFN1 chr17 54542098 54587334 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKFN1 chr17 54543740 54587343 Gain and loss Pancreatic cancer SNP array 17952125 ANKFN1 chr17 54543742 54587343 Amplification T-cell lymphomas Array-CGH 22341440 ANKFN1 chr17 54546801 54749200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKFN1,NOG chr17 54561545 54561601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54569901 54570015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54578068 55251248 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKAP1,C17orf67,COIL,DGKE,MIR3614,MTVR2,NOG,RNF126P1,SCPEP1,TRIM25 chr17 54579294 54579394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54583279 54583364 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54583279 54583364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54587338 54587862 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 54587883 54634706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 54587883 54634706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54587883 54634706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54587900 54635977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54597960 54598060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54604472 58038015 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,CLTC,COIL,CUEDC1,DGKE,DHX40,DYNLL2,EPX,GDPD1,HSF5,LPO,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NOG,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TEX14,TRIM25,TRIM37,TUBD1,VEZF1,VMP1,YPEL2 chr17 54615152 54615252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54621652 55440772 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKAP1,C17orf67,COIL,DGKE,MIR3614,MSI2,MTVR2,NOG,RNF126P1,SCPEP1,TRIM25 chr1 75462382 75462467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54636467 54636529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54642153 54647390 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 54642153 54647390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54642153 54647390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54642174 54647392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54652616 54706655 Gain and loss Pancreatic cancer SNP array 17952125 NOG chr17 54652616 54707341 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOG chr17 54652616 54707341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOG chr17 54652616 54707341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOG chr17 5466433 5999210 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC339166,NLRP1,WSCD1 chr17 54666454 77236301 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1093K arrays 21546498 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AKAP1,AMZ2,AMZ2P1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA4,CACNG1,CACNG4,CACNG5,CANT1,CASKIN2,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,COIL,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DGKE,DHX40,DNAH17,DNAI2,DYNLL2,EFCAB3,ENGASE,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR4738,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MPO,MRC2,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYO15B,NACA2,NAT9,NOG,NOL11,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF43,RNFT1,RPL38,RPS6KB1,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SDK2,SEC14L1,SEPT4,SEPT9,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SUPT4H1,SYNGR2,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,VEZF1,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 54667778 56789426 Copy number Lung cancer paired-end sequencing 18438408 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,COIL,CUEDC1,DGKE,DYNLL2,EPX,HSF5,LPO,MIR142,MIR3614,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NOG,OR4D1,OR4D2,RAD51C,RNF126P1,RNF43,SCPEP1,SEPT4,SRSF1,SUPT4H1,TEX14,TRIM25,VEZF1 chr17 54692891 54692987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54692891 54692989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54719438 54719842 Gain Normal 244K array 17666407 NOT_FOUND chr1 75474269 75488159 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 54749201 54901000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf67 chr17 54751213 55539287 LOH Normal High-resolution SNP genotyping 21211785 AKAP1,C17orf67,COIL,DGKE,MIR3614,MSI2,MTVR2,RNF126P1,SCPEP1,TRIM25 chr17 54753786 54753886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54758734 54921099 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C17orf67,DGKE chr17 54763834 54833877 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr17 54763835 54833877 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 54763835 54833877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54763835 54833877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 54779560 56826669 LOH Normal High-resolution SNP genotyping 21211785 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,COIL,CUEDC1,DGKE,DYNLL2,EPX,HSF5,LPO,MIR142,MIR3614,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,OR4D1,OR4D2,RAD51C,RNF126P1,RNF43,SCPEP1,SEPT4,SRSF1,SUPT4H1,TEX14,TRIM25,VEZF1 chr17 54785409 54829576 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 54800261 56826669 LOH Normal High-resolution SNP genotyping 21211785 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,COIL,CUEDC1,DGKE,DYNLL2,EPX,HSF5,LPO,MIR142,MIR3614,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,OR4D1,OR4D2,RAD51C,RNF126P1,RNF43,SCPEP1,SEPT4,SRSF1,SUPT4H1,TEX14,TRIM25,VEZF1 chr17 54863018 56857259 LOH Normal High-resolution SNP genotyping 21211785 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,COIL,CUEDC1,DGKE,DYNLL2,EPX,HSF5,LPO,MIR142,MIR3614,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,OR4D1,OR4D2,PPM1E,RAD51C,RNF126P1,RNF43,SCPEP1,SEPT4,SRSF1,SUPT4H1,TEX14,TRIM25,VEZF1 chr17 54878207 56665795 LOH Normal High-resolution SNP genotyping 21211785 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,COIL,CUEDC1,DGKE,DYNLL2,EPX,HSF5,LPO,MIR142,MIR3614,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,OR4D1,OR4D2,RNF126P1,RNF43,SCPEP1,SEPT4,SRSF1,SUPT4H1,TEX14,TRIM25,VEZF1 chr17 54900000 58400000 Microdeletion Heart disease aCGH 20206336 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,CA4,CLTC,COIL,CUEDC1,DGKE,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TEX14,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 54900000 58400000 Microdeletion Limb Abnormalities aCGH 20206336 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf67,CA4,CLTC,COIL,CUEDC1,DGKE,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TEX14,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 54900000 59900000 Duplication Breast cancer RT-PCR, FISH 21467264 AKAP1,APPBP2,BCAS3,BRIP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf64,C17orf67,C17orf82,CA4,CLTC,COIL,CUEDC1,DGKE,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,OR4D1,OR4D2,PPM1D,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TBX2,TBX4,TEX14,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 54900000 59900000 Gain Myxofibrosarcoma Array CGH 16751306 AKAP1,APPBP2,BCAS3,BRIP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf64,C17orf67,C17orf82,CA4,CLTC,COIL,CUEDC1,DGKE,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,OR4D1,OR4D2,PPM1D,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TBX2,TBX4,TEX14,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 54900000 59900000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 AKAP1,APPBP2,BCAS3,BRIP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf64,C17orf67,C17orf82,CA4,CLTC,COIL,CUEDC1,DGKE,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR3614,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,OR4D1,OR4D2,PPM1D,PPM1E,PRR11,PTRH2,RAD51C,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCPEP1,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TBX2,TBX4,TEX14,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 54900000 68400000 Gain,loss Breast cancer - 16397240 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,AKAP1,AMZ2,AMZ2P1,APOH,APPBP2,ARSG,AXIN2,BCAS3,BPTF,BRIP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf82,CA4,CACNG1,CACNG4,CACNG5,CCDC47,CD79B,CEP112,CEP95,CLTC,COIL,CSH1,CSH2,CSHL1,CUEDC1,CYB561,DCAF7,DDX42,DDX5,DGKE,DHX40,DYNLL2,EFCAB3,EPX,ERN1,FAM20A,FTSJ3,GDPD1,GH1,GH2,GNA13,HEATR6,HELZ,HSF5,ICAM2,INTS2,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LIMD2,LINC00674,LOC146880,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR5047,MIR548W,MIR634,MIR635,MKS1,MPO,MRC2,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,NOL11,OR4D1,OR4D2,PECAM1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRKAR1A,PRKCA,PRR11,PSMC5,PSMD12,PTRH2,RAD51C,RGS9,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCN4A,SCPEP1,SEPT4,SKA2,SLC16A6,SMARCD2,SMG8,SMURF2,SNORA38B,SNORA76,SNORD104,SRSF1,STRADA,SUPT4H1,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX14,TEX2,TLK2,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,WIPI1,YPEL2 chr17 54900000 78774742 Amplification Urothelial carcinoma CGH and FISH 18382360 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AKAP1,AMZ2,AMZ2P1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA4,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,COIL,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DGKE,DHX40,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MPO,MRC2,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYO15B,NACA2,NAT9,NOL11,NPTX1,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SDK2,SEC14L1,SEPT4,SEPT9,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SUPT4H1,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,VEZF1,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 54900000 78774742 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AKAP1,AMZ2,AMZ2P1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf28,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA4,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,COIL,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DGKE,DHX40,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MPO,MRC2,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MTVR2,MXRA7,MYO15B,NACA2,NAT9,NOL11,NPTX1,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF126P1,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,SAP30BP,SCARNA16,SCARNA20,SCN4A,SCPEP1,SDK2,SEC14L1,SEPT4,SEPT9,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SUPT4H1,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM25,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,VEZF1,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 549000 613000 Gain Idiopathic neurodevelopmental disorder MLPA,aCGH 21092253 VPS53 chr17 54901001 55255200 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKAP1,C17orf67,COIL,DGKE,MIR3614,MTVR2,RNF126P1,SCPEP1,TRIM25 chr17 54906000 68498000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,AKAP1,AMZ2,AMZ2P1,APOH,APPBP2,ARSG,AXIN2,BCAS3,BPTF,BRIP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf58,C17orf64,C17orf67,C17orf72,C17orf82,CA4,CACNG1,CACNG4,CACNG5,CCDC47,CD79B,CEP112,CEP95,CLTC,COIL,CSH1,CSH2,CSHL1,CUEDC1,CYB561,DCAF7,DDX42,DDX5,DGKE,DHX40,DYNLL2,EFCAB3,EPX,ERN1,FAM20A,FTSJ3,GDPD1,GH1,GH2,GNA13,HEATR6,HELZ,HSF5,ICAM2,INTS2,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LIMD2,LINC00674,LOC146880,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3614,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR5047,MIR548W,MIR634,MIR635,MKS1,MPO,MRC2,MRPS23,MSI2,MSX2P1,MTMR4,MTVR2,NACA2,NOL11,OR4D1,OR4D2,PECAM1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRKAR1A,PRKCA,PRR11,PSMC5,PSMD12,PTRH2,RAD51C,RGS9,RNF126P1,RNF43,RNFT1,RPS6KB1,SCARNA20,SCN4A,SCPEP1,SEPT4,SKA2,SLC16A6,SMARCD2,SMG8,SMURF2,SNORA38B,SNORA76,SNORD104,SRSF1,STRADA,SUPT4H1,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX14,TEX2,TLK2,TRIM25,TRIM37,TUBD1,USP32,VEZF1,VMP1,WIPI1,YPEL2 chr17 54911226 54911258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C17orf67 chr17 549250 560469 Gain Autism 1M Ailent CGH whole-genome array 21865298 VPS53 chr17 54947567 54947690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54947571 54947788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5496387 5496467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 54969499 54969642 Gain and loss Pancreatic cancer SNP array 17952125 TRIM25 chr17 54969502 54969642 Gain and loss Pancreatic cancer SNP array 17952125 TRIM25 chr17 54969502 54969642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM25 chr17 54997668 55040484 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COIL chr17 54997668 55040484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COIL chr17 54997668 55040484 Gain and loss Pancreatic cancer SNP array 17952125 COIL chr17 54997668 55040484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COIL chr17 55004000 55032901 Duplication Non-syndromic sensorineural hearing loss References 19212409 COIL chr1 75502188 79011902 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACADM,AK5,ASB17,DNAJB4,FAM73A,FUBP1,GIPC2,LHX8,MGC27382,MSH4,NEXN,PIGK,PTGFR,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C,ST6GALNAC3,ST6GALNAC5,USP33,ZZZ3 chr17 55031321 55031421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COIL chr17 55051831 55129099 Gain or loss Breast cancer - 20668451 RNF126P1,SCPEP1 chr17 55051831 55129099 Gain or loss Cancer - 20668451 RNF126P1,SCPEP1 chr17 55051831 55129099 Gain or loss Lung cancer - 20668451 RNF126P1,SCPEP1 chr17 55051831 55129099 Gain or loss Ovarian cancer - 20668451 RNF126P1,SCPEP1 chr17 55051831 55129099 Gain or loss Pancreas cancer - 20668451 RNF126P1,SCPEP1 chr17 55051831 55129099 Gain or loss Prostate cancer - 20668451 RNF126P1,SCPEP1 chr17 55051832 55129099 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF126P1,SCPEP1 chr17 55051832 55129099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF126P1,SCPEP1 chr17 55051832 55129099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF126P1,SCPEP1 chr17 55052038 55127254 Gain and loss Pancreatic cancer SNP array 17952125 RNF126P1,SCPEP1 chr17 55056498 56671083 LOH Normal High-resolution SNP genotyping 21211785 AKAP1,BZRAP1,BZRAP1-AS1,C17orf47,CUEDC1,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,RNF126P1,RNF43,SCPEP1,SEPT4,SRSF1,SUPT4H1,TEX14,VEZF1 chr17 55061600 55218400 Duplication renal disease Array CGH, FISH 17924346 AKAP1,RNF126P1,SCPEP1 chr17 55063521 55063595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCPEP1 chr1 75508955 75788048 Loss Autism qPCR 20531469 LHX8,SLC44A5 chr17 55117687 55118542 Loss Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 NOT_FOUND chr17 55129450 55139638 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 55129450 55139638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 55129450 55139638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55129451 55139572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55129451 55139572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55129820 55133214 Loss Normal 244K array 17666407 NOT_FOUND chr17 55139811 55273235 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKAP1 chr17 55139811 55273235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKAP1 chr17 55139811 55273235 Gain and loss Pancreatic cancer SNP array 17952125 AKAP1 chr17 55139811 55273235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP1 chr17 55144989 55540417 Amplification Cancer Affymetrix 250K Sty array 20164920 AKAP1,MSI2 chr17 55181959 55182041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKAP1 chr17 55224998 55225966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 75524398 75571913 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 55251248 56227359 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CUEDC1,DYNLL2,MRPS23,MSI2,SRSF1,VEZF1 chr17 55255201 56241900 Copy number Normal ReadDepth: A Parallel R Package 21305028 CUEDC1,DYNLL2,MRPS23,MSI2,MSX2P1,OR4D1,SRSF1,VEZF1 chr17 55273399 55273490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 55273409 55273480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 55273409 55273480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55279581 55279687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55279585 55279687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 55279598 55279687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 5528427 5529380 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr17 55288784 55288859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5528899 6196701 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC339166,WSCD1 chr17 55291633 55325078 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 55291633 55325078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55291633 55325078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 55291633 55325078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55325224 55382568 Gain or loss Breast cancer - 20668451 MSI2 chr17 55325224 55382568 Gain or loss Cancer - 20668451 MSI2 chr17 55325224 55382568 Gain or loss Lung cancer - 20668451 MSI2 chr17 55325224 55382568 Gain or loss Ovarian cancer - 20668451 MSI2 chr17 55325224 55382568 Gain or loss Pancreas cancer - 20668451 MSI2 chr17 55325224 55382568 Gain or loss Prostate cancer - 20668451 MSI2 chr17 55325225 55382564 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSI2 chr17 55325225 55382564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55325225 55382564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55325229 55379602 Gain and loss Pancreatic cancer SNP array 17952125 MSI2 chr17 5534101 5540000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 55350429 55513944 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 MSI2 chr17 55350429 55513944 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MSI2 chr17 55350429 55513944 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MSI2 chr17 55350451 78473884 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf28,C17orf47,C17orf58,C17orf64,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA4,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DHX40,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MPO,MRC2,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MXRA7,MYO15B,NACA2,NAT9,NOL11,NPTX1,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,SAP30BP,SCARNA16,SCARNA20,SCN4A,SDK2,SEC14L1,SEPT4,SEPT9,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SUPT4H1,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,VEZF1,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 55375245 56125611 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CUEDC1,MRPS23,MSI2,SRSF1,VEZF1 chr1 75538075 75567291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 55384506 55396899 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSI2 chr17 55384506 55396899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55384506 55396899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55384506 55451167 Gain and loss Pancreatic cancer SNP array 17952125 MSI2 chr17 55386720 60690169 Gain Malignant melanoma BAC array CGH 17260012 APPBP2,BCAS3,BRIP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf64,C17orf82,CA4,CLTC,CUEDC1,DHX40,DYNLL2,EFCAB3,EPX,GDPD1,HEATR6,HSF5,INTS2,LOC645638,LOC653653,LPO,MED13,METTL2A,MIR142,MIR21,MIR301A,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,NACA2,OR4D1,OR4D2,PPM1D,PPM1E,PRR11,PTRH2,RAD51C,RNF43,RNFT1,RPS6KB1,SCARNA20,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TEX14,TLK2,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 55394503 56847709 LOH Normal High-resolution SNP genotyping 21211785 BZRAP1,BZRAP1-AS1,C17orf47,CUEDC1,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,PPM1E,RAD51C,RNF43,SEPT4,SRSF1,SUPT4H1,TEX14,VEZF1 chr17 55400854 56942635 LOH Normal - 20944671 BZRAP1,BZRAP1-AS1,C17orf47,CUEDC1,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,PPM1E,RAD51C,RNF43,SEPT4,SRSF1,SUPT4H1,TEX14,VEZF1 chr17 55408166 55451118 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 MSI2 chr1 75541001 75570059 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 75541205 75565489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 55437855 56732084 LOH Normal High-resolution SNP genotyping 21211785 BZRAP1,BZRAP1-AS1,C17orf47,CUEDC1,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,RNF43,SEPT4,SRSF1,SUPT4H1,TEX14,VEZF1 chr17 55438501 55445000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MSI2 chr17 55440772 56642148 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BZRAP1,BZRAP1-AS1,C17orf47,CUEDC1,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,RNF43,SEPT4,SRSF1,SUPT4H1,TEX14,VEZF1 chr17 55442212 55451118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSI2 chr17 55442212 55451118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr1 75544650 75544750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75544769 75544869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75544778 75544873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75545477 75576203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 55475327 55511218 Gain and loss Pancreatic cancer SNP array 17952125 MSI2 chr17 55475344 55511074 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSI2 chr17 55475344 55511074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55475344 55511074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55510099 55599157 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MSI2 chr17 55534368 55534805 Gain and loss Pancreatic cancer SNP array 17952125 MSI2 chr17 5556349 5556449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 55567001 55596000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MSI2 chr1 75557017 75557092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75557179 75557366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 55573549 56591201 LOH Normal High-resolution SNP genotyping 21211785 BZRAP1,BZRAP1-AS1,CUEDC1,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,RNF43,SRSF1,SUPT4H1,VEZF1 chr17 55581582 55809920 Copy number Parkinson disease PennCNV and QuantiSNP 21829596 MSI2 chr17 55582079 55591683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSI2 chr17 55582079 55591683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55582079 55591683 Gain and loss Pancreatic cancer SNP array 17952125 MSI2 chr17 55582079 55591683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55594662 55594743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55596101 55596135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSI2 chr17 55600000 58400000 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 BZRAP1,BZRAP1-AS1,C17orf47,CA4,CLTC,CUEDC1,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF43,RNFT1,RPS6KB1,SCARNA20,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TEX14,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 55600000 58400000 Amplification Ovarian clear cell carcinoma FISH 19293255 BZRAP1,BZRAP1-AS1,C17orf47,CA4,CLTC,CUEDC1,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF43,RNFT1,RPS6KB1,SCARNA20,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TEX14,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 55600000 58400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BZRAP1,BZRAP1-AS1,C17orf47,CA4,CLTC,CUEDC1,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF43,RNFT1,RPS6KB1,SCARNA20,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TEX14,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 55600000 58400000 Gain Barrett's adenocarcinoma FISH 18663352 BZRAP1,BZRAP1-AS1,C17orf47,CA4,CLTC,CUEDC1,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF43,RNFT1,RPS6KB1,SCARNA20,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TEX14,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 55600000 58400000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 BZRAP1,BZRAP1-AS1,C17orf47,CA4,CLTC,CUEDC1,DHX40,DYNLL2,EPX,GDPD1,HEATR6,HSF5,LOC645638,LOC653653,LPO,MIR142,MIR21,MIR301A,MIR454,MIR4729,MIR4736,MIR4737,MKS1,MPO,MRPS23,MSI2,MSX2P1,MTMR4,OR4D1,OR4D2,PPM1E,PRR11,PTRH2,RAD51C,RNF43,RNFT1,RPS6KB1,SCARNA20,SEPT4,SKA2,SMG8,SRSF1,SUPT4H1,TBC1D3P1-DHX40P1,TEX14,TRIM37,TUBD1,USP32,VEZF1,VMP1,YPEL2 chr17 55600000 68400000 Gain Medulloblastoma SNP arrays 21979893 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,AMZ2,AMZ2P1,APOH,APPBP2,ARSG,AXIN2,BCAS3,BPTF,BRIP1,BZRAP1,BZRAP1-AS1,C17orf47,C17orf58,C17orf64,C17orf72,C17orf82,CA4,CACNG1,CACNG4,CACNG5,CCDC47,CD79B,CEP112,CEP95,CLTC,CSH1,CSH2,CSHL1,CUEDC1,CYB561,DCAF7,DDX42,DDX5,DHX40,DYNLL2,EFCAB3,EPX,ERN1,FAM20A,FTSJ3,GDPD1,GH1,GH2,GNA13,HEATR6,HELZ,HSF5,ICAM2,INTS2,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LIMD2,LINC00674,LOC146880,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4736,MIR4737,MIR5047,MIR548W,MIR634,MIR635,MKS1,MPO,MRC2,MRPS23,MSI2,MSX2P1,MTMR4,NACA2,NOL11,OR4D1,OR4D2,PECAM1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRKAR1A,PRKCA,PRR11,PSMC5,PSMD12,PTRH2,RAD51C,RGS9,RNF43,RNFT1,RPS6KB1,SCARNA20,SCN4A,SEPT4,SKA2,SLC16A6,SMARCD2,SMG8,SMURF2,SNORA38B,SNORA76,SNORD104,SRSF1,STRADA,SUPT4H1,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX14,TEX2,TLK2,TRIM37,TUBD1,USP32,VEZF1,VMP1,WIPI1,YPEL2 chr17 55600000 78774742 Gain Breast cancer Array CGH 16608533 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,BZRAP1,BZRAP1-AS1,C17orf109,C17orf110,C17orf28,C17orf47,C17orf58,C17orf64,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA4,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,CPSF4L,CSH1,CSH2,CSHL1,CUEDC1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DHX40,DNAH17,DNAI2,DYNLL2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,EPX,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HN1,HSF5,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LPO,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR142,MIR21,MIR301A,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4730,MIR4736,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MKS1,MPO,MRC2,MRPL38,MRPS23,MRPS7,MSI2,MSX2P1,MTMR4,MXRA7,MYO15B,NACA2,NAT9,NOL11,NPTX1,NT5C,NUP85,OR4D1,OR4D2,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPM1E,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RAD51C,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RNF43,RNFT1,RPL38,RPS6KB1,RPTOR,SAP30BP,SCARNA16,SCARNA20,SCN4A,SDK2,SEC14L1,SEPT4,SEPT9,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF1,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SUPT4H1,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX14,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,VEZF1,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 55601000 55625289 Duplication Non-syndromic sensorineural hearing loss References 19212409 MSI2 chr17 55609472 55824368 Gain or loss Breast cancer - 20668451 MSI2 chr17 55609472 55824368 Gain or loss Cancer - 20668451 MSI2 chr17 55609472 55824368 Gain or loss Lung cancer - 20668451 MSI2 chr17 55609472 55824368 Gain or loss Ovarian cancer - 20668451 MSI2 chr17 55609472 55824368 Gain or loss Pancreas cancer - 20668451 MSI2 chr17 55609472 55824368 Gain or loss Prostate cancer - 20668451 MSI2 chr17 55609473 55824368 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSI2 chr17 55609473 55824368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55609473 55824368 Gain and loss Pancreatic cancer SNP array 17952125 MSI2 chr17 55609473 55824368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55629000 55650105 Duplication Non-syndromic sensorineural hearing loss References 19212409 MSI2 chr17 55630592 55630657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSI2 chr17 55646646 55646745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSI2 chr17 5565118 5565218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5565509 5565609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 55655108 55655208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSI2 chr17 55659863 55659989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55659913 55659985 Gain and loss Pancreatic cancer SNP array 17952125 MSI2 chr17 55659913 55659985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55663659 55663789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55670979 55671079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSI2 chr17 55682000 55682067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MSI2 chr17 55689953 55690078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSI2 chr17 55710079 55711484 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSI2 chr17 55710079 55711484 Gain and loss Pancreatic cancer SNP array 17952125 MSI2 chr17 55710079 55711484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSI2 chr17 55719262 55719332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSI2 chr17 55801129 55801436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 55809011 56184899 Amplification or deletion Cancer Array CGH 17440070 CUEDC1,DYNLL2,MRPS23,SRSF1,VEZF1 chr17 55824877 55824977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 55854652 55863563 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 55854652 55863563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55854652 55863563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 55854652 55863563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55865866 55866433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 55865866 55866442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55865866 55866442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 55875302 55958362 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CUEDC1,MRPS23 chr17 55875302 55958362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUEDC1,MRPS23 chr17 55875302 55958362 Gain and loss Pancreatic cancer SNP array 17952125 CUEDC1,MRPS23 chr17 55875302 55958362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUEDC1,MRPS23 chr17 55934631 55936055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 55936370 55936470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 55947700 56583137 Amplification Breast cancer FISH 17142309 BZRAP1,BZRAP1-AS1,CUEDC1,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MSX2P1,MTMR4,OR4D1,OR4D2,RNF43,SRSF1,SUPT4H1,VEZF1 chr17 55958266 55958357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CUEDC1 chr1 755963 755964 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 755964 766985 Gain Normal Birdsuite, version 1.5.2 22087296 LINC00115,LOC643837 chr17 55992359 55992609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 55992601 55992799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75600232 75600278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LHX8 chr17 56032336 56096818 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRSF1,VEZF1 chr17 56032336 56096818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRSF1,VEZF1 chr17 56032336 56096818 Gain and loss Pancreatic cancer SNP array 17952125 SRSF1,VEZF1 chr17 56032336 56096818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRSF1,VEZF1 chr17 56082233 56082321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRSF1 chr17 56094476 56094580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 56094476 56094580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 56094478 56094580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 56109998 56824973 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BZRAP1,BZRAP1-AS1,C17orf47,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MSX2P1,MTMR4,OR4D1,OR4D2,RAD51C,RNF43,SEPT4,SUPT4H1,TEX14 chr17 56109998 56824973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BZRAP1,BZRAP1-AS1,C17orf47,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MSX2P1,MTMR4,OR4D1,OR4D2,RAD51C,RNF43,SEPT4,SUPT4H1,TEX14 chr17 56109998 56824973 Gain and loss Pancreatic cancer SNP array 17952125 BZRAP1,BZRAP1-AS1,C17orf47,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MSX2P1,MTMR4,OR4D1,OR4D2,RAD51C,RNF43,SEPT4,SUPT4H1,TEX14 chr17 56109998 56824973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BZRAP1,BZRAP1-AS1,C17orf47,DYNLL2,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MSX2P1,MTMR4,OR4D1,OR4D2,RAD51C,RNF43,SEPT4,SUPT4H1,TEX14 chr17 56128456 56128746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 56128456 56128748 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 56128456 56128748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 56152921 56153004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75615356 75621732 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LHX8 chr17 56159308 56159625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 56159308 56159625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 56181083 56181189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 56181084 56181189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 56181085 56181189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 5618721 6517938 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AIPL1,FAM64A,KIAA0753,LOC339166,PITPNM3,WSCD1 chr17 56218375 56218445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 56218375 56218445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 56224868 56224968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 56225398 56225498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 56227359 56631267 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BZRAP1,BZRAP1-AS1,C17orf47,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MSX2P1,MTMR4,OR4D1,OR4D2,RNF43,SEPT4,SUPT4H1 chr17 56235609 56267530 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MSX2P1,OR4D2 chr17 56235759 56239609 Loss Normal 244K array 17666407 MSX2P1 chr17 56240772 56624856 Insert Cancer ultra-high resolution array CGH 21272361 BZRAP1,BZRAP1-AS1,C17orf47,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MTMR4,OR4D2,RNF43,SEPT4,SUPT4H1 chr17 56241901 56646700 Copy number Normal ReadDepth: A Parallel R Package 21305028 BZRAP1,BZRAP1-AS1,C17orf47,EPX,HSF5,LPO,MIR142,MIR4736,MKS1,MPO,MTMR4,OR4D2,RNF43,SEPT4,SUPT4H1,TEX14 chr17 56242312 56243605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 56243100 56243195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 56262780 56262849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 56271610 56347596 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EPX,LPO,MKS1,MPO chr17 56286550 56286650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MKS1 chr17 56287755 56287855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MKS1 chr17 56300742 56328050 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LPO chr17 56329530 56329630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPO chr17 56332034 56332326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPO chr17 56332034 56332328 Gain and loss Pancreatic cancer SNP array 17952125 LPO chr17 56383587 56383672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BZRAP1 chr17 56393934 56394036 Gain and loss Pancreatic cancer SNP array 17952125 BZRAP1 chr17 56393934 56394036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BZRAP1 chr17 56414572 56466001 Copy number Lung cancer - 20668451 BZRAP1-AS1,RNF43,SUPT4H1 chr17 56414572 56466001 Gain or loss Breast cancer - 20668451 BZRAP1-AS1,RNF43,SUPT4H1 chr17 56414572 56466001 Gain or loss Cancer - 20668451 BZRAP1-AS1,RNF43,SUPT4H1 chr17 56414572 56466001 Gain or loss Lung cancer - 20668451 BZRAP1-AS1,RNF43,SUPT4H1 chr17 56414572 56466001 Gain or loss Ovarian cancer - 20668451 BZRAP1-AS1,RNF43,SUPT4H1 chr17 56414572 56466001 Gain or loss Pancreas cancer - 20668451 BZRAP1-AS1,RNF43,SUPT4H1 chr17 56414572 56466001 Gain or loss Prostate cancer - 20668451 BZRAP1-AS1,RNF43,SUPT4H1 chr1 756457 758975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 56502014 56502484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSF5 chr17 56518921 56519018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSF5 chr17 56568014 56568113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTMR4 chr17 56568328 56568428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTMR4 chr17 56570120 56570220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTMR4 chr17 56584011 56584752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTMR4 chr17 56598186 56598281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEPT4 chr17 56600423 57012081 Deletion Breast cancer FISH 17142309 C17orf47,PPM1E,RAD51C,SEPT4,TEX14 chr17 56603901 56603971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEPT4 chr17 56620289 56650196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf47,TEX14 chr17 56622939 56623039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 56631267 57338106 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 GDPD1,MIR301A,MIR454,PPM1E,PRR11,RAD51C,SKA2,SMG8,TEX14,TRIM37 chr17 56646701 56722600 Copy number Normal ReadDepth: A Parallel R Package 21305028 TEX14 chr17 56722601 56950300 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPM1E,RAD51C,TEX14 chr17 56735868 56747819 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEX14 chr17 56738124 56738209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEX14 chr17 5678824 5678902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339166 chr17 56803986 56917298 Copy number Lung cancer paired-end sequencing 18438408 PPM1E,RAD51C chr17 56815001 56850000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPM1E chr17 56832039 56841607 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1E chr17 56832039 56841607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1E chr17 56832039 56841607 Gain and loss Pancreatic cancer SNP array 17952125 PPM1E chr17 56832039 56841607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1E chr17 568336 880135 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DBIL5P,FAM57A,GEMIN4,GLOD4,NXN,RNMTL1,VPS53 chr1 7568342 7571019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAMTA1 chr17 56843894 56845423 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1E chr17 56843894 56845423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1E chr17 56843894 56845423 Gain and loss Pancreatic cancer SNP array 17952125 PPM1E chr17 56843894 56845423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1E chr17 56883001 56915500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPM1E chr17 56888589 56916446 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1E chr17 56888589 56916446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1E chr17 56888589 56916446 Gain and loss Pancreatic cancer SNP array 17952125 PPM1E chr17 56888589 56916446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1E chr17 56890726 56922767 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPM1E chr17 56915188 57297444 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MIR301A,MIR454,PPM1E,PRR11,SKA2,SMG8,TRIM37 chr17 56931474 59333068 Copy number Lung cancer paired-end sequencing 18438408 APPBP2,BCAS3,C17orf64,CA4,CLTC,DHX40,GDPD1,HEATR6,LOC645638,LOC653653,MIR21,MIR301A,MIR454,MIR4729,MIR4737,PPM1D,PPM1E,PRR11,PTRH2,RNFT1,RPS6KB1,SCARNA20,SKA2,SMG8,TBC1D3P1-DHX40P1,TRIM37,TUBD1,USP32,VMP1,YPEL2 chr17 56950301 57355100 Copy number Normal ReadDepth: A Parallel R Package 21305028 GDPD1,MIR301A,MIR454,PPM1E,PRR11,SKA2,SMG8,TRIM37 chr1 75698925 75899769 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC44A5 chr17 56999347 57532286 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GDPD1,MIR301A,MIR454,MIR4729,PPM1E,PRR11,SKA2,SMG8,TRIM37,YPEL2 chr17 57022676 57023323 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1E chr17 57022676 57023323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1E chr17 57022676 57023323 Gain and loss Pancreatic cancer SNP array 17952125 PPM1E chr17 57022676 57023323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1E chr17 57044419 57044499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPM1E chr17 57099676 57700512 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 CLTC,DHX40,GDPD1,MIR301A,MIR454,MIR4729,PRR11,SKA2,SMG8,TRIM37,YPEL2 chr1 75710580 76495496 LOH Normal High-resolution SNP genotyping 21211785 ACADM,ASB17,MSH4,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C chr17 57114767 57295537 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR301A,MIR454,PRR11,SKA2,SMG8,TRIM37 chr17 57114767 57295537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR301A,MIR454,PRR11,SKA2,SMG8,TRIM37 chr17 57114767 57295537 Gain and loss Pancreatic cancer SNP array 17952125 MIR301A,MIR454,PRR11,SKA2,SMG8,TRIM37 chr17 57114767 57295537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR301A,MIR454,PRR11,SKA2,SMG8,TRIM37 chr1 75712849 76398149 LOH Normal High-resolution SNP genotyping 21211785 ACADM,ASB17,MSH4,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C chr17 57147345 58213715 LOH Normal High-resolution SNP genotyping 21211785 CLTC,DHX40,GDPD1,HEATR6,LOC645638,LOC653653,MIR21,MIR301A,MIR454,MIR4729,MIR4737,PRR11,PTRH2,RNFT1,RPS6KB1,SKA2,SMG8,TBC1D3P1-DHX40P1,TRIM37,TUBD1,VMP1,YPEL2 chr17 57174969 78241241 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf64,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CA4,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CLTC,COG1,CPSF4L,CSH1,CSH2,CSHL1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DHX40,DNAH17,DNAI2,EFCAB3,EIF4A3,ENGASE,ENPP7,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GDPD1,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HEATR6,HELZ,HN1,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC645638,LOC653653,LOC729683,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR21,MIR301A,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR454,MIR4729,MIR4737,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MRC2,MRPL38,MRPS7,MXRA7,MYO15B,NACA2,NAT9,NOL11,NT5C,NUP85,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PRCD,PRKAR1A,PRKCA,PRPSAP1,PRR11,PSMC5,PSMD12,PTRH2,QRICH2,RAB37,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RNFT1,RPL38,RPS6KB1,SAP30BP,SCARNA16,SCARNA20,SCN4A,SDK2,SEC14L1,SEPT9,SGSH,SKA2,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMG8,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM37,TRIM47,TRIM65,TSEN54,TTYH2,TUBD1,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,VMP1,WBP2,WIPI1,YPEL2,ZACN chr17 57181205 57185913 Gain or loss Breast cancer - 20668451 TRIM37 chr17 57181205 57185913 Gain or loss Cancer - 20668451 TRIM37 chr17 57181205 57185913 Gain or loss Lung cancer - 20668451 TRIM37 chr17 57181205 57185913 Gain or loss Ovarian cancer - 20668451 TRIM37 chr17 57181205 57185913 Gain or loss Pancreas cancer - 20668451 TRIM37 chr17 57181205 57185913 Gain or loss Prostate cancer - 20668451 TRIM37 chr17 572226 21191548 Loss Acute myeloid leukemia FISH 20724749 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 5726487 5741568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339166 chr17 57288113 57288113 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 SMG8 chr17 57296 58061 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 57297511 57360083 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 GDPD1 chr17 57297512 57365737 Gain and loss Pancreatic cancer SNP array 17952125 GDPD1 chr17 57297517 57358844 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GDPD1 chr17 57297517 57358844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDPD1 chr17 57297517 57358844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDPD1 chr17 57306228 57306325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDPD1 chr17 57306230 57306325 Gain and loss Pancreatic cancer SNP array 17952125 GDPD1 chr17 57306234 57306325 Gain and loss Pancreatic cancer SNP array 17952125 GDPD1 chr17 57338106 58516171 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C17orf64,CA4,CLTC,DHX40,GDPD1,HEATR6,LOC645638,LOC653653,MIR21,MIR4729,MIR4737,PTRH2,RNFT1,RPS6KB1,SCARNA20,TBC1D3P1-DHX40P1,TUBD1,USP32,VMP1,YPEL2 chr17 57339591 57373620 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GDPD1 chr17 57355101 58468300 Copy number Normal ReadDepth: A Parallel R Package 21305028 CA4,CLTC,DHX40,HEATR6,LOC645638,LOC653653,MIR21,MIR4729,MIR4737,PTRH2,RNFT1,RPS6KB1,SCARNA20,TBC1D3P1-DHX40P1,TUBD1,USP32,VMP1,YPEL2 chr17 57374747 57497348 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 MIR4729,YPEL2 chr17 57374749 57497425 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4729,YPEL2 chr17 57374749 57497425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4729,YPEL2 chr17 57374749 57497425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4729,YPEL2 chr17 57377824 57497425 Gain and loss Pancreatic cancer SNP array 17952125 MIR4729,YPEL2 chr17 57437880 57438113 Gain and loss Pancreatic cancer SNP array 17952125 YPEL2 chr17 57437880 57438113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YPEL2 chr17 5744799 6736372 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AIPL1,ALOX15P1,C17orf100,FAM64A,FBXO39,KIAA0753,LOC339166,MED31,MIR4520A,MIR4520B,PITPNM3,SLC13A5,TEKT1,TXNDC17,WSCD1,XAF1 chr17 57448000 57448080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YPEL2 chr17 57468976 57469085 Gain and loss Pancreatic cancer SNP array 17952125 YPEL2 chr17 57468976 57469086 Gain and loss Pancreatic cancer SNP array 17952125 YPEL2 chr17 57468976 57469088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YPEL2 chr17 57529441 57842003 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CLTC,DHX40,PTRH2,VMP1 chr17 57554463 57554562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 57554463 57554564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 57569112 57572779 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 57569501 57572500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 57576673 57576773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 75759802 75760268 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr1 75759835 75760504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr17 57600000 58300000 Copy number Effusion lymphoma Real-time QPCR 18079361 CA4,CLTC,DHX40,HEATR6,LOC645638,LOC653653,MIR21,MIR4737,PTRH2,RNFT1,RPS6KB1,TBC1D3P1-DHX40P1,TUBD1,USP32,VMP1 chr17 57600000 58300000 Copy number Hepatocellular carcinoma Quantitative real time PCR 18929564 CA4,CLTC,DHX40,HEATR6,LOC645638,LOC653653,MIR21,MIR4737,PTRH2,RNFT1,RPS6KB1,TBC1D3P1-DHX40P1,TUBD1,USP32,VMP1 chr17 57600000 62600000 Amplification XY sex reversal FISH 17503084 ACE,APPBP2,BCAS3,BRIP1,C17orf64,C17orf72,C17orf82,CA4,CCDC47,CD79B,CEP95,CLTC,CSH1,CSH2,CSHL1,CYB561,DCAF7,DDX42,DDX5,DHX40,EFCAB3,ERN1,FTSJ3,GH1,GH2,HEATR6,ICAM2,INTS2,KCNH6,LIMD2,LOC645638,LOC653653,LOC729683,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR21,MIR3064,MIR4737,MIR5047,MIR548W,MRC2,NACA2,PECAM1,POLG2,PPM1D,PSMC5,PTRH2,RNFT1,RPS6KB1,SCARNA20,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX2,TLK2,TUBD1,USP32,VMP1 chr17 57600000 62600000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACE,APPBP2,BCAS3,BRIP1,C17orf64,C17orf72,C17orf82,CA4,CCDC47,CD79B,CEP95,CLTC,CSH1,CSH2,CSHL1,CYB561,DCAF7,DDX42,DDX5,DHX40,EFCAB3,ERN1,FTSJ3,GH1,GH2,HEATR6,ICAM2,INTS2,KCNH6,LIMD2,LOC645638,LOC653653,LOC729683,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR21,MIR3064,MIR4737,MIR5047,MIR548W,MRC2,NACA2,PECAM1,POLG2,PPM1D,PSMC5,PTRH2,RNFT1,RPS6KB1,SCARNA20,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX2,TLK2,TUBD1,USP32,VMP1 chr17 57600000 62600000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACE,APPBP2,BCAS3,BRIP1,C17orf64,C17orf72,C17orf82,CA4,CCDC47,CD79B,CEP95,CLTC,CSH1,CSH2,CSHL1,CYB561,DCAF7,DDX42,DDX5,DHX40,EFCAB3,ERN1,FTSJ3,GH1,GH2,HEATR6,ICAM2,INTS2,KCNH6,LIMD2,LOC645638,LOC653653,LOC729683,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR21,MIR3064,MIR4737,MIR5047,MIR548W,MRC2,NACA2,PECAM1,POLG2,PPM1D,PSMC5,PTRH2,RNFT1,RPS6KB1,SCARNA20,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TANC2,TBC1D3P1-DHX40P1,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX2,TLK2,TUBD1,USP32,VMP1 chr17 57601735 57601835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 5762000 10559000 LOH and copy numberLOH Colorectal cancer 50 K SNP array 21297112 ACADVL,ACAP1,AIPL1,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LOC100128288,LOC100506713,LOC284023,LOC339166,LSMD1,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PITPNM3,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,WSCD1,XAF1,YBX2,ZBTB4 chr17 57634915 58178411 LOH Normal High-resolution SNP genotyping 21211785 CLTC,DHX40,HEATR6,LOC645638,MIR21,MIR4737,PTRH2,RNFT1,RPS6KB1,TBC1D3P1-DHX40P1,TUBD1,VMP1 chr17 57650339 57826573 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CLTC,DHX40,PTRH2,VMP1 chr17 57650339 57826573 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CLTC,DHX40,PTRH2,VMP1 chr17 57685351 57685451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DHX40 chr1 75768942 76024923 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SLC44A5 chr17 57694501 57707500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLTC chr17 57696851 57707770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLTC chr17 57696851 57707770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLTC chr17 57697160 57707770 Gain and loss Pancreatic cancer SNP array 17952125 CLTC chr17 57712949 57713049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLTC chr17 57779317 58575445 Duplication small cell lung cancer array-CGH 20016488 APPBP2,C17orf64,CA4,HEATR6,LOC645638,LOC653653,MIR21,MIR4737,PTRH2,RNFT1,RPS6KB1,SCARNA20,TBC1D3P1-DHX40P1,TUBD1,USP32,VMP1 chr17 57802 62178 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 57811646 57847569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VMP1 chr17 57811646 57847569 Gain and loss Pancreatic cancer SNP array 17952125 VMP1 chr17 57811646 57847569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VMP1 chr17 57812762 57813102 Gain and loss Pancreatic cancer SNP array 17952125 VMP1 chr17 57814196 57814260 Gain and loss Pancreatic cancer SNP array 17952125 VMP1 chr1 75784454 75784783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC44A5 chr17 57854943 57878844 Duplication Non-syndromic sensorineural hearing loss References 19212409 VMP1 chr17 57854996 57880028 Gain and loss Pancreatic cancer SNP array 17952125 VMP1 chr17 57854996 57881186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VMP1 chr17 57854996 57881186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VMP1 chr17 57870000 59630000 Amplification Sezary syndrome Array-based CGH 18413736 APPBP2,BCAS3,C17orf64,C17orf82,CA4,HEATR6,LOC645638,LOC653653,MIR21,MIR4737,PPM1D,RNFT1,RPS6KB1,SCARNA20,TBC1D3P1-DHX40P1,TBX2,TBX4,TUBD1,USP32,VMP1 chr1 75787 702396 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3 chr1 75787 708514 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3 chr17 57878844 57950000 Duplication Non-syndromic sensorineural hearing loss References 19212409 MIR21,TUBD1,VMP1 chr17 57889751 58044759 Gain and loss Pancreatic cancer SNP array 17952125 MIR21,RNFT1,RPS6KB1,TUBD1,VMP1 chr17 57910136 58044755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR21,RNFT1,RPS6KB1,TUBD1,VMP1 chr17 57910136 58044755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR21,RNFT1,RPS6KB1,TUBD1,VMP1 chr17 579175 600568 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VPS53 chr17 57947459 57947860 Gain and loss Pancreatic cancer SNP array 17952125 TUBD1 chr17 57950000 57971625 Duplication Non-syndromic sensorineural hearing loss References 19212409 RPS6KB1,TUBD1 chr17 57973000 57993593 Duplication Non-syndromic sensorineural hearing loss References 19212409 RPS6KB1 chr17 57996135 58570131 Substitutions and indels small cell lung cancer array-CGH 20016488 APPBP2,C17orf64,CA4,HEATR6,LOC645638,LOC653653,MIR4737,RNFT1,RPS6KB1,SCARNA20,TBC1D3P1-DHX40P1,USP32 chr17 58040493 58057661 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RNFT1,TBC1D3P1-DHX40P1 chr1 75804595 75804695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC44A5 chr17 58058494 58124685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEATR6,MIR4737,TBC1D3P1-DHX40P1 chr17 58058494 58124685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR6,MIR4737,TBC1D3P1-DHX40P1 chr17 58058780 58124629 Gain and loss Pancreatic cancer SNP array 17952125 HEATR6,MIR4737,TBC1D3P1-DHX40P1 chr17 58059501 58061000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D3P1-DHX40P1 chr17 58061001 58095000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D3P1-DHX40P1 chr17 5807840 5807940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339166 chr17 58092714 58092818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3P1-DHX40P1 chr17 58092716 58092818 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D3P1-DHX40P1 chr17 58095001 58136000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HEATR6,MIR4737,TBC1D3P1-DHX40P1 chr17 58114998 58115102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 58114998 58115103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 58114999 58115101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 58121080 60118579 Deletion intellectual deficit Array-CGH 22052739 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,HEATR6,INTS2,LOC645638,LOC653653,MED13,NACA2,PPM1D,SCARNA20,TBX2,TBX4,USP32 chr17 58121080 60118579 Deletion no characteristic dysmorphism Array-CGH 22052739 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,HEATR6,INTS2,LOC645638,LOC653653,MED13,NACA2,PPM1D,SCARNA20,TBX2,TBX4,USP32 chr17 58121080 60118579 Deletion sensorineural hearing loss Array-CGH 22052739 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,HEATR6,INTS2,LOC645638,LOC653653,MED13,NACA2,PPM1D,SCARNA20,TBX2,TBX4,USP32 chr17 58121080 60118579 Deletion speech delay Array-CGH 22052739 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,HEATR6,INTS2,LOC645638,LOC653653,MED13,NACA2,PPM1D,SCARNA20,TBX2,TBX4,USP32 chr17 58123904 58157946 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HEATR6 chr17 58132408 58239437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CA4,HEATR6,LOC645638,LOC653653 chr17 58132408 58239437 Gain and loss Pancreatic cancer SNP array 17952125 CA4,HEATR6,LOC645638,LOC653653 chr17 58132408 58239437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA4,HEATR6,LOC645638,LOC653653 chr17 58171686 58246893 Amplification or deletion Cancer Array CGH 17440070 CA4,LOC653653 chr17 58172730 60315273 Deletion intellectual deficit Array-CGH 22052739 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,INTS2,LOC653653,MED13,NACA2,PPM1D,SCARNA20,TBX2,TBX4,USP32 chr17 58172730 60315273 Deletion no characteristic dysmorphism Array-CGH 22052739 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,INTS2,LOC653653,MED13,NACA2,PPM1D,SCARNA20,TBX2,TBX4,USP32 chr17 58172730 60315273 Deletion sensorineural hearing loss Array-CGH 22052739 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,INTS2,LOC653653,MED13,NACA2,PPM1D,SCARNA20,TBX2,TBX4,USP32 chr17 58172730 60315273 Deletion speech delay Array-CGH 22052739 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,INTS2,LOC653653,MED13,NACA2,PPM1D,SCARNA20,TBX2,TBX4,USP32 chr1 75820324 75820835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr17 5822 31270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOC2B chr17 5822 31270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOC2B chr17 5822350 6051282 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 LOC339166,WSCD1 chr17 58226169 59469518 LOH Normal High-resolution SNP genotyping 21211785 APPBP2,BCAS3,C17orf64,CA4,PPM1D,SCARNA20,USP32 chr17 582548 592830 Gain and loss Pancreatic cancer SNP array 17952125 VPS53 chr17 582597 592824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 582597 592824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 58288094 58288217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP32 chr17 58292291 58913161 LOH Normal High-resolution SNP genotyping 21211785 APPBP2,BCAS3,C17orf64,PPM1D,SCARNA20,USP32 chr17 58292291 59335529 LOH Normal High-resolution SNP genotyping 21211785 APPBP2,BCAS3,C17orf64,PPM1D,SCARNA20,USP32 chr17 58292291 59402350 LOH Normal High-resolution SNP genotyping 21211785 APPBP2,BCAS3,C17orf64,PPM1D,SCARNA20,USP32 chr17 58292291 59469518 LOH Normal High-resolution SNP genotyping 21211785 APPBP2,BCAS3,C17orf64,PPM1D,SCARNA20,USP32 chr17 58292291 59470587 LOH Normal High-resolution SNP genotyping 21211785 APPBP2,BCAS3,C17orf64,PPM1D,SCARNA20,USP32 chr17 58300000 61100000 Amplification Ovarian clear cell carcinoma FISH 19293255 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,EFCAB3,INTS2,MARCH10,MED13,METTL2A,MIR548W,MRC2,NACA2,PPM1D,SCARNA20,TANC2,TBC1D3P2,TBX2,TBX4,TLK2,USP32 chr17 58300000 61100000 Copy number Neuroblastoma Affymetrix 100K SNP arrays 19435921 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,EFCAB3,INTS2,MARCH10,MED13,METTL2A,MIR548W,MRC2,NACA2,PPM1D,SCARNA20,TANC2,TBC1D3P2,TBX2,TBX4,TLK2,USP32 chr17 58300000 61100000 Gain and amplification Multiple myeloma Array CGH 16616336 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,EFCAB3,INTS2,MARCH10,MED13,METTL2A,MIR548W,MRC2,NACA2,PPM1D,SCARNA20,TANC2,TBC1D3P2,TBX2,TBX4,TLK2,USP32 chr17 58300000 61100000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,EFCAB3,INTS2,MARCH10,MED13,METTL2A,MIR548W,MRC2,NACA2,PPM1D,SCARNA20,TANC2,TBC1D3P2,TBX2,TBX4,TLK2,USP32 chr17 58300000 81195210 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 AANAT,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,ACTG1,AFMID,ALYREF,AMZ2,AMZ2P1,ANAPC11,APOH,APPBP2,ARHGDIA,ARL16,ARMC7,ARSG,ASPSCR1,ATP5H,AXIN2,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf58,C17orf62,C17orf64,C17orf70,C17orf72,C17orf77,C17orf80,C17orf82,C17orf89,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC47,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,CHMP6,COG1,CPSF4L,CSH1,CSH2,CSHL1,CSNK1D,CYB561,CYGB,CYTH1,DCAF7,DCXR,DDX42,DDX5,DNAH17,DNAI2,DUS1L,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM195B,FAM20A,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,FTSJ3,GAA,GALK1,GALR2,GCGR,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HELZ,HEXDC,HGS,HN1,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00482,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC729683,LRRC37A3,LRRC45,MAFG,MAFG-AS1,MAP2K6,MAP3K3,MARCH10,MED13,METRNL,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR1250,MIR3064,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR4740,MIR5047,MIR548W,MIR634,MIR635,MIR636,MIR657,MRC2,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NACA2,NARF,NAT9,NOL11,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PPP1R27,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMC5,PSMD12,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SCARNA20,SCN4A,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC39A11,SLC9A3R1,SMARCD2,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,STRADA,SUMO2,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P2,TBCD,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX19,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP32,USP36,UTS2R,WBP2,WDR45L,WIPI1,ZACN,ZNF750 chr17 58335815 58335915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP32 chr17 58375308 58375405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP32 chr17 58400000 59900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,NACA2,PPM1D,TBX2,TBX4,USP32 chr17 58400000 59900000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,NACA2,PPM1D,TBX2,TBX4,USP32 chr17 58428176 58428270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP32 chr17 58440630 58858799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APPBP2,BCAS3,C17orf64,PPM1D,USP32 chr17 58440653 58530467 Gain and loss Pancreatic cancer SNP array 17952125 APPBP2,C17orf64,USP32 chr17 58468301 58822500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APPBP2,BCAS3,C17orf64,PPM1D,USP32 chr17 58468320 58553426 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 APPBP2,C17orf64,USP32 chr17 58480953 58513480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf64 chr17 58499308 64939230 Amplification Breast cancer Array CGH 16620391 ACE,AMZ2P1,APOH,APPBP2,AXIN2,BCAS3,BRIP1,C17orf64,C17orf72,C17orf82,CACNG5,CCDC47,CD79B,CEP112,CEP95,CSH1,CSH2,CSHL1,CYB561,DCAF7,DDX42,DDX5,EFCAB3,ERN1,FTSJ3,GH1,GH2,GNA13,ICAM2,INTS2,KCNH6,LIMD2,LOC146880,LOC729683,LRRC37A3,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR5047,MIR548W,MIR634,MRC2,NACA2,PECAM1,PLEKHM1P,POLG2,PPM1D,PRKCA,PSMC5,RGS9,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TANC2,TBC1D3P2,TBX2,TBX4,TCAM1P,TEX2,TLK2 chr17 58516171 59795213 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 APPBP2,BCAS3,BRIP1,C17orf82,NACA2,PPM1D,TBX2,TBX4 chr17 58535860 58541728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APPBP2 chr17 58562 7162432 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABR,ACADVL,AIPL1,ALOX12,ALOX12P2,ALOX15,ALOX15P1,ANKFY1,ARRB2,ASGR1,ASGR2,ASPA,ATP2A3,BCL6B,BHLHA9,C17orf100,C17orf107,C17orf49,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CHRNE,CLEC10A,CRK,CTDNEP1,CTNS,CXCL16,CYB5D2,DBIL5P,DERL2,DHX33,DLG4,DPH1,DVL2,ELP5,EMC6,ENO3,FAM101B,FAM57A,FAM64A,FBXO39,GABARAP,GEMIN4,GGT6,GLOD4,GLTPD2,GP1BA,GSG2,HIC1,INCA1,INPP5K,ITGAE,KIAA0664,KIAA0753,KIF1C,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC339166,LOC728392,MED11,MED31,METTL16,MINK1,MIR1253,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR4520A,MIR4520B,MIR497,MIR497HG,MIS12,MNT,MYBBP1A,MYO1C,NLRP1,NUP88,NXN,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PFN1,PHF23,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PRPF8,PSMB6,RABEP1,RAP1GAP2,RILP,RNASEK,RNASEK-C17ORF49,RNF167,RNMTL1,RPA1,RPAIN,RPH3AL,RTN4RL1,SCARF1,SCIMP,SERPINF1,SERPINF2,SGSM2,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC43A2,SLC52A1,SMG6,SMTNL2,SMYD4,SNORD91A,SNORD91B,SPAG7,SPATA22,SPNS2,SPNS3,SRR,TAX1BP3,TEKT1,TIMM22,TLCD2,TM4SF5,TRPV1,TRPV3,TSR1,TUSC5,TXNDC17,UBE2G1,USP6,VMO1,VPS53,WDR81,WSCD1,XAF1,YWHAE,ZFP3,ZMYND15,ZNF232,ZNF594,ZZEF1 chr17 58575015 77643327 Substitutions and indels small cell lung cancer array-CGH 20016488 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,APPBP2,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CASKIN2,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,COG1,CPSF4L,CSH1,CSH2,CSHL1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DNAH17,DNAI2,EFCAB3,ENGASE,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GALK1,GALR2,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HELZ,HN1,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR4738,MIR5047,MIR548W,MIR634,MIR635,MIR636,MRC2,MRPL38,MRPS7,MXRA7,MYO15B,NACA2,NAT9,NOL11,NT5C,NUP85,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PPM1D,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMC5,PSMD12,QRICH2,RAB37,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RPL38,SAP30BP,SCARNA16,SCN4A,SDK2,SEC14L1,SEPT9,SLC16A5,SLC16A6,SLC25A19,SLC39A11,SLC9A3R1,SMARCD2,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SYNGR2,TACO1,TANC2,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 58631880 58858792 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCAS3,PPM1D chr17 58631880 58858792 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3,PPM1D chr17 58677543 58743640 Amplification Breast cancer Array CGH 16461572 PPM1D chr17 58730511 58730605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1D chr17 5874331 5874647 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 58761404 58761504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr17 58767134 58767234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr1 75879617 75880360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr17 58822501 59733300 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3,C17orf82,NACA2,TBX2,TBX4 chr17 58858058 59565574 LOH Normal High-resolution SNP genotyping 21211785 BCAS3,C17orf82,TBX2,TBX4 chr17 58863398 58877398 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 58863400 58877454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58863400 58877454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58864501 58885500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 58885501 58906000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 58889277 59561178 Duplication Autism Array CGH 22102821 BCAS3,C17orf82,TBX2,TBX4 chr17 58893117 58919622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCAS3 chr17 58902682 58903182 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 58902697 58903188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58902697 58903188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58906001 58910000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 58908166 58938721 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 58908166 58952937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58908166 58952937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58910001 58913000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 58913001 58982000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 58932319 58932569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCAS3 chr17 58954427 59160794 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 58954427 59160897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58954427 59160897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58972512 58972672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCAS3 chr17 58981554 59025371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58981554 59025371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 58981575 59025359 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 58985640 58985715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr17 589871 589903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS53 chr17 59004335 59004438 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59004335 59004438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59004336 59004438 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 5901573 5903107 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 75902303 75941204 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr17 59031973 59039456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59031973 59039456 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59031973 59039456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59041861 59042278 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59052501 59053500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59053501 59054500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59053506 59127402 Gain or loss Breast cancer - 20668451 BCAS3 chr17 59053506 59127402 Gain or loss Cancer - 20668451 BCAS3 chr17 59053506 59127402 Gain or loss Lung cancer - 20668451 BCAS3 chr17 59053506 59127402 Gain or loss Ovarian cancer - 20668451 BCAS3 chr17 59053506 59127402 Gain or loss Pancreas cancer - 20668451 BCAS3 chr17 59053506 59127402 Gain or loss Prostate cancer - 20668451 BCAS3 chr17 59053533 59127399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59053533 59127399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59053533 59127401 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr1 75906537 75907584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC44A5 chr17 59067300 59150930 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 BCAS3 chr17 59119501 59122000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59122001 59132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59126982 59131251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59126982 59131251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59126994 59131217 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59128650 59128917 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BCAS3 chr17 5913001 5916500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 59133928 59172947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59133928 59172947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59133928 59173062 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 5914658 5965344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 5914658 5968469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 5914658 5968469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 59152049 59216255 Gain Neuroblastoma References 19638189 BCAS3 chr17 5916501 5964000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 59169073 59202191 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59176341 59204820 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 BCAS3 chr17 59176343 59204668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59176343 59204668 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59176343 59204668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59179077 59179211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCAS3 chr17 59183873 59184018 Loss Autism 1M Ailent CGH whole-genome array 21865298 BCAS3 chr17 5920000 7710000 Deletion Sezary syndrome Array-based CGH 18413736 ACADVL,ACAP1,AIPL1,ALOX12,ALOX12P2,ALOX15P1,ASGR1,ASGR2,ATP1B2,BCL6B,C17orf100,C17orf49,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHRNB1,CLDN7,CLEC10A,CTDNEP1,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FAM64A,FBXO39,FGF11,FXR2,GABARAP,GPS2,KCTD11,KIAA0753,LOC100506713,MED31,MIR195,MIR324,MIR4520A,MIR4520B,MIR497,MIR497HG,MPDU1,NEURL4,NLGN2,PHF23,PITPNM3,PLSCR3,POLR2A,RNASEK,RNASEK-C17ORF49,RPL29P2,SAT2,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TEKT1,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TXNDC17,WRAP53,WSCD1,XAF1,YBX2,ZBTB4 chr17 59205299 59250408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59205299 59250408 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59205299 59250408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59211220 59211279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr1 75921124 75922480 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr17 59233555 59233655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr17 59250527 59258188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59250527 59258188 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59250527 59258188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59258542 59263118 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59258542 59263118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59263173 59273661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59263173 59273661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59263174 59274083 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59265754 59265847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr17 59266231 59266280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr17 59268001 59274500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59274501 59340500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59297086 59423594 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 BCAS3 chr17 59299181 59313184 Gain Normal Birdsuite, version 1.5.2 22087296 BCAS3 chr17 59303104 59342350 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59303106 59304848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59303106 59304848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59303288 59327647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59303288 59327647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59311304 59312955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59311304 59312955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59326005 59327719 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59339819 59342350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59339819 59342350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59340501 59376000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59348294 59349930 Gain or loss Breast cancer - 20668451 BCAS3 chr17 59348294 59349930 Gain or loss Cancer - 20668451 BCAS3 chr17 59348294 59349930 Gain or loss Lung cancer - 20668451 BCAS3 chr17 59348294 59349930 Gain or loss Ovarian cancer - 20668451 BCAS3 chr17 59348294 59349930 Gain or loss Pancreas cancer - 20668451 BCAS3 chr17 59348294 59349930 Gain or loss Prostate cancer - 20668451 BCAS3 chr17 59348295 59349930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59348295 59349930 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59348295 59349930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59356116 59415266 Copy number Lung cancer paired-end sequencing 18438408 BCAS3 chr17 59359829 59363436 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 BCAS3 chr17 59359829 59363436 Gain or loss Breast cancer - 20668451 BCAS3 chr17 59359829 59363436 Gain or loss Cancer - 20668451 BCAS3 chr17 59359829 59363436 Gain or loss Lung cancer - 20668451 BCAS3 chr17 59359829 59363436 Gain or loss Ovarian cancer - 20668451 BCAS3 chr17 59359829 59363436 Gain or loss Pancreas cancer - 20668451 BCAS3 chr17 59359829 59363436 Gain or loss Prostate cancer - 20668451 BCAS3 chr17 59359832 59363446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59359832 59363446 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59359832 59363446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59366996 59367084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr17 59369646 59404010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59369646 59404010 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59369646 59404010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59370109 59370368 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BCAS3 chr17 59375243 59375341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS3 chr17 59376001 59380500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59380501 59439500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS3 chr17 59398672 60168563 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 BCAS3,BRIP1,C17orf82,INTS2,MED13,NACA2,TBX2,TBX4 chr17 59429443 59435396 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59429651 78774742 Copy number Lung cancer paired-end sequencing 18438408 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,ARMC7,ARSG,ATP5H,AXIN2,BCAS3,BIRC5,BPTF,BRIP1,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf72,C17orf77,C17orf80,C17orf82,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,COG1,CPSF4L,CSH1,CSH2,CSHL1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DNAH17,DNAI2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HELZ,HN1,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MRC2,MRPL38,MRPS7,MXRA7,MYO15B,NACA2,NAT9,NOL11,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMC5,PSMD12,QRICH2,RAB37,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SCN4A,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P2,TBX2,TBX4,TCAM1P,TEN1,TEN1-CDK3,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 59433688 59437839 Gain and loss Pancreatic cancer SNP array 17952125 BCAS3 chr17 59433688 59451726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 59433688 59451726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS3 chr17 594411 602251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 594411 602251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 59474085 59529654 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C17orf82,TBX2 chr17 59474122 59529654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf82,TBX2 chr17 59474492 59561215 Gain and loss Pancreatic cancer SNP array 17952125 C17orf82,TBX2,TBX4 chr17 594856 598032 Gain and loss Pancreatic cancer SNP array 17952125 VPS53 chr17 59514918 60345150 LOH Normal High-resolution SNP genotyping 21211785 BRIP1,INTS2,MED13,NACA2,TBC1D3P2,TBX4 chr17 59528401 59528481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 59538188 59563040 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 TBX4 chr17 59544375 60496656 LOH Normal High-resolution SNP genotyping 21211785 BRIP1,EFCAB3,INTS2,MED13,NACA2,TBC1D3P2,TBX4 chr17 59560909 59561121 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBX4 chr17 59561209 59561610 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBX4 chr17 59562946 59607330 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 59565101 59569500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 59566912 59567883 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 59577170 59577249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 59577175 59577244 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 59577175 59577244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 59577431 59577563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 59578528 59694385 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NACA2 chr17 59578528 59694385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NACA2 chr17 59578528 59694385 Gain and loss Pancreatic cancer SNP array 17952125 NACA2 chr17 59578528 59694385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NACA2 chr1 75962870 76001771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr1 75962870 76001771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr1 75963907 75972785 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr17 5964001 5966000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 75964778 75964855 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr1 75965595 75965678 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr17 5966001 6256500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WSCD1 chr17 59665907 59691206 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NACA2 chr17 5966976 5997297 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WSCD1 chr1 75967183 75967253 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr1 75967183 75967254 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr17 59700399 59740943 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr1 75973095 75973195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC44A5 chr17 59733301 59783900 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRIP1 chr17 59739408 59739782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 59739408 59739782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 59743208 59774508 Insert Cancer ultra-high resolution array CGH 21272361 BRIP1 chr1 75974588 76090944 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A5 chr17 59749430 60554054 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 BRIP1,EFCAB3,INTS2,MED13,METTL2A,TBC1D3P2 chr17 59752964 59794505 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRIP1 chr17 59752964 59794509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59752964 59794509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59754908 59794504 Gain and loss Pancreatic cancer SNP array 17952125 BRIP1 chr17 59761006 59761007 Deletion Breast cancer - 20616022 BRIP1 chr17 59771722 59807138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRIP1 chr17 5977298 5977423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WSCD1 chr17 59783901 60542900 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRIP1,EFCAB3,INTS2,MED13,METTL2A,TBC1D3P2 chr17 59788748 59803272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRIP1 chr17 59791916 59792236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BRIP1 chr17 5979358 5979478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WSCD1 chr17 59795213 64844063 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACE,AMZ2P1,APOH,AXIN2,BRIP1,C17orf72,CCDC47,CD79B,CEP112,CEP95,CSH1,CSH2,CSHL1,CYB561,DCAF7,DDX42,DDX5,EFCAB3,ERN1,FTSJ3,GH1,GH2,GNA13,ICAM2,INTS2,KCNH6,LIMD2,LOC146880,LOC729683,LRRC37A3,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR5047,MIR548W,MIR634,MRC2,PECAM1,PLEKHM1P,POLG2,PRKCA,PSMC5,RGS9,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TANC2,TBC1D3P2,TCAM1P,TEX2,TLK2 chr17 59811608 59824314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRIP1 chr1 75981691 75983047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr17 59817023 59817128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59817025 59817128 Gain and loss Pancreatic cancer SNP array 17952125 BRIP1 chr17 59817026 59817128 Gain and loss Pancreatic cancer SNP array 17952125 BRIP1 chr17 59875641 60578132 LOH Normal High-resolution SNP genotyping 21211785 BRIP1,EFCAB3,INTS2,MED13,METTL2A,TBC1D3P2,TLK2 chr17 59875702 59895221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59875901 59895221 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRIP1 chr17 59875901 59895221 Gain and loss Pancreatic cancer SNP array 17952125 BRIP1 chr17 59880975 59892495 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRIP1 chr17 59889128 59889225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59900000 61600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACE,BRIP1,CYB561,EFCAB3,INTS2,MARCH10,MED13,METTL2A,MIR548W,MRC2,TANC2,TBC1D3P2,TLK2 chr17 59900000 61600000 Gain Breast cancer high-resolution aCGH 21958427 ACE,BRIP1,CYB561,EFCAB3,INTS2,MARCH10,MED13,METTL2A,MIR548W,MRC2,TANC2,TBC1D3P2,TLK2 chr17 59900000 61600000 Gain Williams-Beuren syndrome ABI Prism 7900HT sequence detection system 16971481 ACE,BRIP1,CYB561,EFCAB3,INTS2,MARCH10,MED13,METTL2A,MIR548W,MRC2,TANC2,TBC1D3P2,TLK2 chr17 59900000 64600000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 ACE,AMZ2P1,APOH,AXIN2,BRIP1,C17orf72,CCDC47,CD79B,CEP112,CEP95,CSH1,CSH2,CSHL1,CYB561,DCAF7,DDX42,DDX5,EFCAB3,ERN1,FTSJ3,GH1,GH2,GNA13,ICAM2,INTS2,KCNH6,LIMD2,LOC146880,LOC729683,LRRC37A3,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR5047,MIR548W,MRC2,PECAM1,PLEKHM1P,POLG2,PRKCA,PSMC5,RGS9,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TANC2,TBC1D3P2,TCAM1P,TEX2,TLK2 chr17 59900000 68400000 Insert Congenital Hypertrichosis Syndrome Affymetrix Genotyping Console 3.0 21636067 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,AMZ2,AMZ2P1,APOH,ARSG,AXIN2,BPTF,BRIP1,C17orf58,C17orf72,CACNG1,CACNG4,CACNG5,CCDC47,CD79B,CEP112,CEP95,CSH1,CSH2,CSHL1,CYB561,DCAF7,DDX42,DDX5,EFCAB3,ERN1,FAM20A,FTSJ3,GH1,GH2,GNA13,HELZ,ICAM2,INTS2,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LIMD2,LINC00674,LOC146880,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL2A,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR5047,MIR548W,MIR634,MIR635,MRC2,NOL11,PECAM1,PITPNC1,PLEKHM1P,POLG2,PRKAR1A,PRKCA,PSMC5,PSMD12,RGS9,SCN4A,SLC16A6,SMARCD2,SMURF2,SNORA38B,SNORA76,SNORD104,STRADA,TACO1,TANC2,TBC1D3P2,TCAM1P,TEX2,TLK2,WIPI1 chr17 59900000 78774742 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,ARMC7,ARSG,ATP5H,AXIN2,BIRC5,BPTF,BRIP1,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf72,C17orf77,C17orf80,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,COG1,CPSF4L,CSH1,CSH2,CSHL1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DNAH17,DNAI2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HELZ,HN1,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MRC2,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NOL11,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMC5,PSMD12,QRICH2,RAB37,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SCN4A,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P2,TCAM1P,TEN1,TEN1-CDK3,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 59900000 78774742 Gain Glioblastoma multiforme conventional CGH 21080181 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACE,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,ARMC7,ARSG,ATP5H,AXIN2,BIRC5,BPTF,BRIP1,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf72,C17orf77,C17orf80,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,COG1,CPSF4L,CSH1,CSH2,CSHL1,CYB561,CYGB,CYTH1,DCAF7,DDX42,DDX5,DNAH17,DNAI2,EFCAB3,EIF4A3,ENDOV,ENGASE,ENPP7,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HELZ,HN1,ICAM2,ICT1,INTS2,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,MARCH10,MED13,METTL23,METTL2A,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR5047,MIR548W,MIR634,MIR635,MIR636,MRC2,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NOL11,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMC5,PSMD12,QRICH2,RAB37,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SCN4A,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SYNGR2,TACO1,TANC2,TBC1D16,TBC1D3P2,TCAM1P,TEN1,TEN1-CDK3,TEX2,TIMP2,TK1,TLK2,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 59904366 59923616 Gain and loss Pancreatic cancer SNP array 17952125 BRIP1 chr17 59904366 59923631 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRIP1 chr17 59904366 59923631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59904366 59923631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59909889 59909989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRIP1 chr17 59918102 59918368 Gain and loss Pancreatic cancer SNP array 17952125 BRIP1 chr17 59918102 59918368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59926199 59932869 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 BRIP1 chr17 59926202 59932869 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRIP1 chr17 59926202 59932869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr17 59926202 59932869 Gain and loss Pancreatic cancer SNP array 17952125 BRIP1 chr17 59926202 59932869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRIP1 chr1 75992978 76011499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC44A5 chr17 59932001 59934000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRIP1 chr17 59932717 59964522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRIP1,INTS2 chr17 59932717 59964522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRIP1,INTS2 chr17 59932717 59964522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRIP1,INTS2 chr17 59933620 59964522 Gain and loss Pancreatic cancer SNP array 17952125 BRIP1,INTS2 chr17 59935006 59935235 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BRIP1 chr17 59971196 60088848 Gain or loss Breast cancer - 20668451 INTS2,MED13 chr17 59971196 60088848 Gain or loss Cancer - 20668451 INTS2,MED13 chr17 59971196 60088848 Gain or loss Lung cancer - 20668451 INTS2,MED13 chr17 59971196 60088848 Gain or loss Ovarian cancer - 20668451 INTS2,MED13 chr17 59971196 60088848 Gain or loss Pancreas cancer - 20668451 INTS2,MED13 chr17 59971196 60088848 Gain or loss Prostate cancer - 20668451 INTS2,MED13 chr17 59971197 60088854 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 INTS2,MED13 chr17 59971197 60088854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INTS2,MED13 chr17 59971197 60088854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INTS2,MED13 chr17 59971945 60088648 Gain and loss Pancreatic cancer SNP array 17952125 INTS2,MED13 chr17 5999580 5999669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WSCD1 chr17 60036190 60036292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MED13 chr17 6004120 6004213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WSCD1 chr17 6006443 6006538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WSCD1 chr17 60133617 60167687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MED13 chr17 60176243 60208206 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 6019443 6019516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WSCD1 chr17 60200001 60227500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 60205028 60205641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 60205839 60263719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 60205839 60263719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 60205839 60263734 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 60206560 60208206 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 60209325 60263734 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 60217420 60361467 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 TBC1D3P2 chr17 60227501 60361000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D3P2 chr1 76024473 76033352 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SLC44A5 chr1 76024474 76033688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr1 76024474 76033688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr17 60247480 60263719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 76025345 76025423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr1 76026162 76026245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr17 602650 605326 Gain and loss Pancreatic cancer SNP array 17952125 VPS53 chr17 602650 605326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr1 76027750 76027821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr17 60280944 60290165 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 60280944 60360856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3P2 chr17 60280944 60360856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D3P2 chr17 60280949 60345365 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 TBC1D3P2 chr17 60298072 60298364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 60298085 60298360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 60298085 60298360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6030439 6048857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 60321225 60323837 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 60347959 60348782 Gain Normal 244K array 17666407 TBC1D3P2 chr1 76035155 76151511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr1 76035155 76151511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A5 chr1 76035217 76151511 Gain or loss Breast cancer - 20668451 SLC44A5 chr1 76035217 76151511 Gain or loss Cancer - 20668451 SLC44A5 chr1 76035217 76151511 Gain or loss Lung cancer - 20668451 SLC44A5 chr1 76035217 76151511 Gain or loss Ovarian cancer - 20668451 SLC44A5 chr1 76035217 76151511 Gain or loss Pancreas cancer - 20668451 SLC44A5 chr1 76035217 76151511 Gain or loss Prostate cancer - 20668451 SLC44A5 chr17 60355492 60655836 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EFCAB3,METTL2A,TLK2 chr1 76035583 76035683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC44A5 chr17 60361001 60363500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 60393129 60402165 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 60393130 60402148 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 60394618 60402156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 60394698 60401630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 60400000 61110000 Amplification Breast cancer aCGH 21509527 EFCAB3,MARCH10,METTL2A,MIR548W,MRC2,TANC2,TLK2 chr17 60434032 60434238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 60437296 60483216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB3 chr17 60437296 60483216 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB3 chr17 60437296 60483216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB3 chr17 60479939 60502601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EFCAB3,METTL2A chr17 60485055 60485155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB3 chr17 60502725 60502890 Gain and loss Pancreatic cancer SNP array 17952125 METTL2A chr17 60502725 60502890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL2A chr17 60511197 61876118 LOH Normal High-resolution SNP genotyping 21211785 ACE,CCDC47,CYB561,DCAF7,DDX42,KCNH6,LIMD2,LOC729683,MAP3K3,MARCH10,METTL2A,MIR548W,MRC2,STRADA,TACO1,TANC2,TLK2 chr17 6051207 6051313 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6051207 6051313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 60542901 61099500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MARCH10,MIR548W,MRC2,TANC2,TLK2 chr1 76054985 76055085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC44A5 chr17 60559405 60676212 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 TLK2 chr17 60564011 60654281 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLK2 chr17 60564011 60654281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLK2 chr17 60564054 60654270 Gain and loss Pancreatic cancer SNP array 17952125 TLK2 chr17 60669090 60669174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLK2 chr17 6068506 6273514 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 NOT_FOUND chr17 60700501 60704600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 60702516 60702834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 60719392 60753195 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MRC2 chr17 60722264 60722331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRC2 chr17 607479 615673 Gain and loss Pancreatic cancer SNP array 17952125 VPS53 chr17 60759914 60759957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRC2 chr1 76076764 76076895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC44A5 chr1 7607878 7607938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 6079496 6088811 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr1 76082877 76082977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 609300 633255 Gain and loss Pancreatic cancer SNP array 17952125 VPS53 chr17 609442 633255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 609442 633255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 60955143 60988227 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR548W chr17 60955143 60988227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548W chr17 60955143 60988227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548W chr17 60955144 61067645 Gain or loss Breast cancer - 20668451 MIR548W chr17 60955144 61067645 Gain or loss Cancer - 20668451 MIR548W chr17 60955144 61067645 Gain or loss Lung cancer - 20668451 MIR548W chr17 60955144 61067645 Gain or loss Ovarian cancer - 20668451 MIR548W chr17 60955144 61067645 Gain or loss Pancreas cancer - 20668451 MIR548W chr17 60955144 61067645 Gain or loss Prostate cancer - 20668451 MIR548W chr17 60955146 60988202 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 MIR548W chr17 60956106 60985289 Gain and loss Pancreatic cancer SNP array 17952125 MIR548W chr1 76096581 76110137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 61053422 61085464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548W chr17 61062121 61618435 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACE,CYB561,KCNH6,MIR548W,TANC2 chr17 61062121 61618435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACE,CYB561,KCNH6,MIR548W,TANC2 chr17 61062121 61618435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACE,CYB561,KCNH6,MIR548W,TANC2 chr17 61062399 61489661 Gain and loss Pancreatic cancer SNP array 17952125 MIR548W,TANC2 chr1 7610959 7611055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 61099501 61150100 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR548W,TANC2 chr17 61138955 61139136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548W,TANC2 chr17 61150101 61630800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACE,CYB561,DCAF7,KCNH6,MIR548W,TANC2 chr17 61183603 61183703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548W,TANC2 chr17 61206770 61206855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548W,TANC2 chr17 61228622 61228722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548W,TANC2 chr1 76124315 76124455 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr17 61334433 62176152 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACE,C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,CYB561,DCAF7,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,KCNH6,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,STRADA,TACO1,TANC2,TCAM1P chr17 61371010 61371110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TANC2 chr17 613719 644926 Loss Autism Exome sequencing and CGH 22495309 FAM57A,VPS53 chr17 61386980 61388280 Loss Normal 244K array 17666407 TANC2 chr17 61396958 61397044 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TANC2 chr17 61418266 61419194 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TANC2 chr17 6144943 6146022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 614742 615562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VPS53 chr17 614777 615182 Gain and loss Pancreatic cancer SNP array 17952125 VPS53 chr17 614777 615182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS53 chr17 61560850 61560882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACE chr17 61565766 61565861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACE chr17 61567687 61568031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACE chr1 76157148 76170688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 76157148 76170688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 61580000 78180000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,ARMC7,ARSG,ATP5H,AXIN2,BIRC5,BPTF,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf72,C17orf77,C17orf80,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,COG1,CPSF4L,CSH1,CSH2,CSHL1,CYGB,CYTH1,DCAF7,DDX42,DDX5,DNAH17,DNAI2,EIF4A3,ENGASE,ENPP7,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HELZ,HN1,ICAM2,ICT1,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR4738,MIR4739,MIR5047,MIR634,MIR635,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NOL11,NT5C,NUP85,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMC5,PSMD12,QRICH2,RAB37,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RPL38,SAP30BP,SCARNA16,SCN4A,SDK2,SEC14L1,SEPT9,SLC16A5,SLC16A6,SLC25A19,SLC39A11,SLC9A3R1,SMARCD2,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SYNGR2,TACO1,TBC1D16,TCAM1P,TEN1,TEN1-CDK3,TEX2,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 61593973 61594030 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 61600000 64600000 Copy number Breast cancer SMRT array 16417655 AMZ2P1,APOH,AXIN2,C17orf72,CCDC47,CD79B,CEP112,CEP95,CSH1,CSH2,CSHL1,DCAF7,DDX42,DDX5,ERN1,FTSJ3,GH1,GH2,GNA13,ICAM2,KCNH6,LIMD2,LOC146880,LOC729683,LRRC37A3,MAP3K3,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR5047,PECAM1,PLEKHM1P,POLG2,PRKCA,PSMC5,RGS9,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TCAM1P,TEX2 chr17 61600000 64600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMZ2P1,APOH,AXIN2,C17orf72,CCDC47,CD79B,CEP112,CEP95,CSH1,CSH2,CSHL1,DCAF7,DDX42,DDX5,ERN1,FTSJ3,GH1,GH2,GNA13,ICAM2,KCNH6,LIMD2,LOC146880,LOC729683,LRRC37A3,MAP3K3,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR5047,PECAM1,PLEKHM1P,POLG2,PRKCA,PSMC5,RGS9,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TCAM1P,TEX2 chr17 61600000 64600000 Loss Intracranial ependymoma matrix-based CGH 16609018 AMZ2P1,APOH,AXIN2,C17orf72,CCDC47,CD79B,CEP112,CEP95,CSH1,CSH2,CSHL1,DCAF7,DDX42,DDX5,ERN1,FTSJ3,GH1,GH2,GNA13,ICAM2,KCNH6,LIMD2,LOC146880,LOC729683,LRRC37A3,MAP3K3,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR5047,PECAM1,PLEKHM1P,POLG2,PRKCA,PSMC5,RGS9,SCN4A,SMARCD2,SMURF2,SNORA76,SNORD104,STRADA,TACO1,TCAM1P,TEX2 chr17 61600000 68400000 Copy number Congenital generalized hypertrichosis terminalis Affymetrix Genome-Wide Human SNP Array 6.0 19463983 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,AMZ2P1,APOH,ARSG,AXIN2,BPTF,C17orf58,C17orf72,CACNG1,CACNG4,CACNG5,CCDC47,CD79B,CEP112,CEP95,CSH1,CSH2,CSHL1,DCAF7,DDX42,DDX5,ERN1,FAM20A,FTSJ3,GH1,GH2,GNA13,HELZ,ICAM2,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LIMD2,LINC00674,LOC146880,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR5047,MIR634,MIR635,NOL11,PECAM1,PITPNC1,PLEKHM1P,POLG2,PRKAR1A,PRKCA,PSMC5,PSMD12,RGS9,SCN4A,SLC16A6,SMARCD2,SMURF2,SNORA38B,SNORA76,SNORD104,STRADA,TACO1,TCAM1P,TEX2,WIPI1 chr17 61600000 78774742 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,ARMC7,ARSG,ATP5H,AXIN2,BIRC5,BPTF,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf72,C17orf77,C17orf80,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,COG1,CPSF4L,CSH1,CSH2,CSHL1,CYGB,CYTH1,DCAF7,DDX42,DDX5,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HELZ,HN1,ICAM2,ICT1,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR5047,MIR634,MIR635,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NOL11,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMC5,PSMD12,QRICH2,RAB37,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SCN4A,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SYNGR2,TACO1,TBC1D16,TCAM1P,TEN1,TEN1-CDK3,TEX2,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 61614483 78774742 Copy number gain Normal High-resolution SNP genotyping 21211785 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACOX1,AFMID,AMZ2,AMZ2P1,APOH,ARMC7,ARSG,ATP5H,AXIN2,BIRC5,BPTF,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf72,C17orf77,C17orf80,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CCDC47,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD79B,CDC42EP4,CDK3,CDR2L,CEP112,CEP95,COG1,CPSF4L,CSH1,CSH2,CSHL1,CYGB,CYTH1,DCAF7,DDX42,DDX5,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,ERN1,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,FTSJ3,GAA,GALK1,GALR2,GGA3,GH1,GH2,GNA13,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HELZ,HN1,ICAM2,ICT1,ITGB4,JMJD6,KCNH6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LIMD2,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC146880,LOC400620,LOC440461,LOC729683,LRRC37A3,MAP2K6,MAP3K3,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MILR1,MIR3064,MIR3615,MIR3678,MIR4315-1,MIR4315-2,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR5047,MIR634,MIR635,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NOL11,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PECAM1,PGS1,PITPNC1,PLEKHM1P,POLG2,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMC5,PSMD12,QRICH2,RAB37,RBFOX3,RECQL5,RGS9,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SCN4A,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SMARCD2,SMURF2,SNHG16,SNORA38B,SNORA76,SNORD104,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRADA,SUMO2,SYNGR2,TACO1,TBC1D16,TCAM1P,TEN1,TEN1-CDK3,TEX2,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 61630801 61858500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC47,DCAF7,DDX42,LIMD2,LOC729683,MAP3K3,STRADA,TACO1 chr17 61638610 61656018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF7 chr17 61638610 61656018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF7 chr17 61638611 61655990 Gain and loss Pancreatic cancer SNP array 17952125 DCAF7 chr17 61650712 62047928 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC47,CD79B,CSH1,CSH2,CSHL1,DCAF7,DDX42,FTSJ3,GH1,GH2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,STRADA,TACO1,TCAM1P chr17 61671660 61671760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 61693601 61698200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 61694323 61694411 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 61694323 61694411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 61695505 61696576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 61699800 61773670 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 LIMD2,MAP3K3 chr17 61699800 61773670 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 LIMD2,MAP3K3 chr17 61729216 62237324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729216 62237324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729387 62237324 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729387 62237324 Gain or loss Breast cancer - 20668451 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729387 62237324 Gain or loss Cancer - 20668451 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729387 62237324 Gain or loss Lung cancer - 20668451 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729387 62237324 Gain or loss Ovarian cancer - 20668451 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729387 62237324 Gain or loss Pancreas cancer - 20668451 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729387 62237324 Gain or loss Prostate cancer - 20668451 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61729388 62237324 Gain and loss Pancreatic cancer SNP array 17952125 C17orf72,CCDC47,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,LIMD2,LOC729683,MAP3K3,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,STRADA,TCAM1P,TEX2 chr17 61758770 61758870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K3 chr17 61785009 61785204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STRADA chr17 61790609 61790898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STRADA chr17 61790609 61790899 Gain and loss Pancreatic cancer SNP array 17952125 STRADA chr17 61790609 61790899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STRADA chr17 6179406 6179491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 61839105 61916742 Loss Normal Birdsuite, version 1.5.2 22087296 CCDC47,DDX42,FTSJ3,PSMC5,SMARCD2 chr17 61858501 62288600 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf72,CD79B,CSH1,CSH2,CSHL1,DDX42,ERN1,FTSJ3,GH1,GH2,ICAM2,PSMC5,SCN4A,SMARCD2,SNORA76,SNORD104,TCAM1P,TEX2 chr17 61871062 61890901 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DDX42 chr17 61905008 61905108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FTSJ3,PSMC5 chr17 61909440 61920351 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 SMARCD2 chr17 61909440 61920351 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 SMARCD2 chr17 61919200 61919290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMARCD2 chr17 62058655 62069934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 62064518 62079021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf72 chr17 62064851 62064950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 62064851 62064950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 62120389 62207502 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ERN1 chr17 62120389 62207502 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ERN1 chr17 62123642 62123710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERN1 chr17 62171360 62171442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERN1 chr17 62187027 62187127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERN1 chr17 62213652 62213748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 62223601 62227500 Deletion Glioma mate-paired sequence 20126413 SNORA76,TEX2 chr1 7622501 7667000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr17 6226092 6232061 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 76227984 76246360 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACADM chr17 62288601 62491000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MILR1,PECAM1,POLG2,TEX2 chr17 62297 202576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506388,RPH3AL chr17 62303853 62311857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEX2 chr17 62303853 62311857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX2 chr17 62303913 62311819 Gain and loss Pancreatic cancer SNP array 17952125 TEX2 chr17 62309717 62309817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEX2 chr17 62310501 62484000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MILR1,PECAM1,POLG2,TEX2 chr17 62318152 63890591 Amplification Cancer Affymetrix 250K Sty array 20164920 AMZ2P1,AXIN2,CEP112,CEP95,DDX5,GNA13,LOC146880,LRRC37A3,MILR1,MIR3064,MIR4315-1,MIR4315-2,MIR5047,PECAM1,PLEKHM1P,POLG2,RGS9,SMURF2,TEX2 chr17 62361003 62361318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 62391475 62459980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PECAM1 chr17 62391475 62459980 Gain and loss Pancreatic cancer SNP array 17952125 PECAM1 chr17 62391475 62459980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PECAM1 chr17 62457971 62458660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 62471168 62483371 Gain and loss Pancreatic cancer SNP array 17952125 POLG2 chr17 62471168 62483375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLG2 chr17 62471168 62483375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLG2 chr17 62491001 62845200 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP95,DDX5,LOC146880,MIR3064,MIR4315-1,MIR4315-2,MIR5047,PLEKHM1P,POLG2,SMURF2 chr17 62497017 62671781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP95,DDX5,MIR5047,SMURF2 chr17 62497017 62671781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP95,DDX5,MIR5047,SMURF2 chr17 62504529 62671739 Gain and loss Pancreatic cancer SNP array 17952125 CEP95,SMURF2 chr17 62512508 63413540 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AMZ2P1,CEP95,GNA13,LOC146880,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P,RGS9,SMURF2 chr1 76252573 76812304 Gain and loss Pancreatic cancer SNP array 17952125 ASB17,MSH4,RABGGTB,SNORD45A,SNORD45B,SNORD45C,ST6GALNAC3 chr1 7625597 7625857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAMTA1 chr17 62560384 62571051 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SMURF2 chr17 6256501 6404000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AIPL1,FAM64A,PITPNM3 chr1 76259095 77877440 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AK5,ASB17,MSH4,PIGK,RABGGTB,ST6GALNAC3,ST6GALNAC5 chr17 62600000 64200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AMZ2P1,AXIN2,CEP112,GNA13,LOC146880,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P,RGS9,SMURF2 chr17 62600000 70900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,AMZ2P1,APOH,ARSG,AXIN2,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,CEP112,FAM20A,GNA13,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00511,LINC00673,LINC00674,LOC146880,LOC440461,LRRC37A3,MAP2K6,MIR4315-1,MIR4315-2,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PLEKHM1P,PRKAR1A,PRKCA,PSMD12,RGS9,SLC16A6,SLC39A11,SMURF2,SNORA38B,SOX9,WIPI1 chr17 62651306 62651616 Gain and loss Pancreatic cancer SNP array 17952125 SMURF2 chr17 62651306 62651616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMURF2 chr17 6267784 6279243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6267784 6279243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 626783 679243 Copy number Autism exome sequencing 22495311 DBIL5P,FAM57A,GEMIN4,GLOD4 chr17 6268595 6279209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 62694688 62694806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 62694688 62694807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 62694692 62694802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 62698047 62698185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 62698047 62698185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 62724829 62725646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 62757832 62828625 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC146880,MIR4315-1,MIR4315-2,PLEKHM1P chr17 62761266 62761366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC146880 chr17 62764495 62793183 Gain and loss Pancreatic cancer SNP array 17952125 LOC146880,PLEKHM1P chr17 62766381 62793183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC146880,PLEKHM1P chr17 6277000 18845000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGAP44,ARHGEF15,ASGR1,ASGR2,ATP1B2,ATPAF2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,CCDC144A,CCDC144B,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DNAH9,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM64A,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GID4,GLP2R,GPS2,GUCY2D,HES7,HS3ST3A1,HS3ST3B1,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,KRT16P2,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100506713,LOC284023,LOC339240,LRRC48,LSMD1,MAGOH2,MAP2K4,MED31,MED9,MEIS3P1,MFSD6L,MGC12916,MIR1288,MIR195,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MPDU1,MPRIP,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NT5M,NTN1,ODF4,PEMT,PER1,PFAS,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNM3,PLD6,PLSCR3,PMP22,POLR2A,PRPSAP2,RAI1,RANGRF,RASD1,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SHMT1,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SMCR5,SMCR7,SMCR8,SMCR9,SNORA48,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SOX15,SPDYE4,SPEM1,SREBF1,STX8,TBC1D26,TBC1D28,TEKT1,TEKT3,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV2,TTC19,TXNDC17,UBB,USP32P1,USP32P2,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 62804168 63120107 Gain and loss Pancreatic cancer SNP array 17952125 AMZ2P1,GNA13,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P chr17 62804386 63120107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMZ2P1,GNA13,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P chr17 62804386 63120107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMZ2P1,GNA13,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P chr17 62834422 62834524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 62834422 62834524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 62835352 62835459 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 62835352 62835459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 62835356 62835459 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 62845201 63123500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMZ2P1,GNA13,LRRC37A3 chr17 62878378 62879232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC37A3 chr17 62883602 62883868 Gain and loss Pancreatic cancer SNP array 17952125 LRRC37A3 chr17 62883602 62883868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC37A3 chr17 6288492 6295108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6288492 6295108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6288492 6295108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 62898067 62898163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC37A3 chr17 62914960 62946793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 62945034 62945097 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 62951317 62951646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 6295306 6400601 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 AIPL1,FAM64A,PITPNM3 chr17 6299347 6400587 Gain and loss Pancreatic cancer SNP array 17952125 AIPL1,FAM64A,PITPNM3 chr17 6299347 6400601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AIPL1,FAM64A,PITPNM3 chr17 6299347 6400601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIPL1,FAM64A,PITPNM3 chr1 76299643 76344656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MSH4 chr17 63070887 63070937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 63123501 63806600 Copy number Normal ReadDepth: A Parallel R Package 21305028 AXIN2,CEP112,RGS9 chr1 76312992 76872874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB17,MSH4,ST6GALNAC3 chr1 76312992 76872874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB17,MSH4,ST6GALNAC3 chr17 63144521 63170772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGS9 chr17 63144521 63170772 Gain and loss Pancreatic cancer SNP array 17952125 RGS9 chr17 63144521 63170772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS9 chr17 63157817 63158092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGS9 chr17 63167247 63167377 Gain and loss Pancreatic cancer SNP array 17952125 RGS9 chr17 63167247 63167377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS9 chr17 63167248 63167376 Gain and loss Pancreatic cancer SNP array 17952125 RGS9 chr17 63200756 63200856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS9 chr17 63210488 63210523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS9 chr17 63211328 63211868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGS9 chr17 63211331 63211883 Gain and loss Pancreatic cancer SNP array 17952125 RGS9 chr17 63215064 63215158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS9 chr17 63219771 63219871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RGS9 chr17 632263 642488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM57A chr17 632263 642488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM57A chr17 632263 642490 Gain and loss Pancreatic cancer SNP array 17952125 FAM57A chr17 63252242 63410954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 63252242 63410956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 63252242 63410956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 63255728 63270086 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 63258404 63258504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 63297273 63297386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 63394301 63396212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 63396765 63396839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 63417678 63420227 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr17 63417680 63420130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 63417680 63420130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 63417680 63420164 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 63462310 63473420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 63462310 63473431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 63489383 63696899 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AXIN2,CEP112 chr17 63591549 63591624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 63611131 64078475 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CEP112 chr17 63616376 63686501 Loss Normal Birdsuite, version 1.5.2 22087296 CEP112 chr17 6361973 6362073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITPNM3 chr17 6362173 6736372 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALOX15P1,C17orf100,FBXO39,KIAA0753,MED31,MIR4520A,MIR4520B,PITPNM3,SLC13A5,TEKT1,TXNDC17,XAF1 chr17 63633345 63635979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63633351 63634719 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 63641001 63643000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP112 chr17 63643001 63703000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP112 chr1 76364563 76710672 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-263K arrays 21546498 ASB17,MSH4,ST6GALNAC3 chr17 63657047 63659046 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 6365887 6365985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITPNM3 chr17 63660887 63660987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP112 chr17 63677569 63677958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63703001 63709000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP112 chr17 63706572 63708031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63706657 63707431 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 63709001 63966000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP112 chr17 63738745 63739158 Loss or gain Normal 244K array 17666407 CEP112 chr17 63739151 63739368 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CEP112 chr17 63743042 63743192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP112 chr17 63746339 67022162 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 ABCA8,ABCA9,AMZ2,APOH,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,CEP112,FAM20A,HELZ,KPNA2,LINC00674,LOC440461,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SNORA38B,WIPI1 chr17 63755310 63764892 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 63755739 63764900 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CEP112 chr17 63755740 63776634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63755740 63776634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63766918 63930467 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 63775933 63799002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63775933 63799002 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 63775933 63799002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63806601 64363200 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOH,CEP112,PRKCA chr17 63814772 63930467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63814772 63930467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63897184 63897284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP112 chr17 63904919 63905009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP112 chr1 76392743 76392962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASB17 chr17 63929018 63965210 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 63929018 63965248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63929018 63965248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr1 76392955 76393150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASB17 chr17 63932187 63932284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 63942126 63942226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP112 chr17 63981868 63981967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP112 chr17 64019704 64059026 Copy number Lung cancer - 20668451 CEP112 chr17 64019704 64059026 Gain or loss Breast cancer - 20668451 CEP112 chr17 64019704 64059026 Gain or loss Cancer - 20668451 CEP112 chr17 64019704 64059026 Gain or loss Lung cancer - 20668451 CEP112 chr17 64019704 64059026 Gain or loss Ovarian cancer - 20668451 CEP112 chr17 64019704 64059026 Gain or loss Pancreas cancer - 20668451 CEP112 chr17 64019704 64059026 Gain or loss Prostate cancer - 20668451 CEP112 chr17 64019704 64059026 Translate, loss Papillary thyroid carcinoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 CEP112 chr17 64019705 64040503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 64019705 64040503 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 64019705 64040503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 6404001 6421500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PITPNM3 chr17 64044607 64109125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 64044607 64109125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP112 chr17 64044860 64108690 Gain and loss Pancreatic cancer SNP array 17952125 CEP112 chr17 640540 640960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM57A chr17 64060387 64060716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CEP112 chr17 64091714 64432250 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 APOH,CEP112,PRKCA chr17 64093942 68720014 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,APOH,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,CEP112,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SNORA38B,WIPI1 chr1 76417002 76461709 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 64194591 64194691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 64200000 70900000 Copy number Congenital generalized hypertrichosis terminalis Affymetrix Genome-Wide Human SNP Array 6.0 19463983 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,APOH,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00511,LINC00673,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SLC39A11,SNORA38B,SOX9,WIPI1 chr17 64200000 70900000 Copy number Gingival hyperplasia Affymetrix Genome-Wide Human SNP Array 6.0 19463983 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,APOH,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00511,LINC00673,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SLC39A11,SNORA38B,SOX9,WIPI1 chr17 64200000 81195210 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AANAT,AATK,AATK-AS1,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACOX1,ACTG1,AFMID,ALYREF,AMZ2,ANAPC11,APOH,ARHGDIA,ARL16,ARMC7,ARSG,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BPTF,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf58,C17orf62,C17orf70,C17orf77,C17orf80,C17orf89,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,COG1,CPSF4L,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM195B,FAM20A,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HELZ,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LINC00338,LINC00469,LINC00482,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LOC440461,LRRC45,MAFG,MAFG-AS1,MAP2K6,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR4740,MIR634,MIR635,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOL11,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PITPNC1,PPP1R27,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMD12,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC16A6,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC39A11,SLC9A3R1,SNHG16,SNORA38B,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,WIPI1,ZACN,ZNF750 chr1 76420434 76636657 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ST6GALNAC3 chr17 6422370 6484971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0753,PITPNM3 chr17 6422370 6484971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0753,PITPNM3 chr17 6422375 6484716 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0753,PITPNM3 chr1 76424153 76424253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 64241628 64241737 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr17 64256598 64256698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 64298925 64806862 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 MIR634,PRKCA chr17 64298925 64806862 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 MIR634,PRKCA chr17 64317412 69472200 Gain Neuroblastoma aCGH 20406844 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SNORA38B,WIPI1 chr17 6435090 6435159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITPNM3 chr17 64363201 64616200 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRKCA chr17 64375028 64463128 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCA chr17 64375028 64463128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCA chr17 64375028 64463128 Gain and loss Pancreatic cancer SNP array 17952125 PRKCA chr17 64375028 64463128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCA chr17 64379764 64379864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCA chr17 64413978 64922879 LOH Normal High-resolution SNP genotyping 21211785 CACNG5,MIR634,PRKCA chr17 64423788 65352124 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CACNG1,CACNG4,CACNG5,HELZ,MIR634,PRKCA,PSMD12 chr17 64432250 78663818 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACOX1,AFMID,AMZ2,ARMC7,ARSG,ATP5H,BIRC5,BPTF,BTBD17,C17orf109,C17orf110,C17orf28,C17orf58,C17orf77,C17orf80,C17orf99,C1QTNF1,CACNG1,CACNG4,CACNG5,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HELZ,HN1,ICT1,ITGB4,JMJD6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,KPNA2,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LOC440461,MAP2K6,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR634,MIR635,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NOL11,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PITPNC1,PRCD,PRKAR1A,PRKCA,PRPSAP1,PSMD12,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORA38B,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 64445396 64624957 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 PRKCA chr17 6444849 8440602 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1113K arrays 21546498 ACADVL,ACAP1,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LOC100128288,LOC100506713,LOC284023,LSMD1,MED31,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH10,NDEL1,NEURL4,NLGN2,ODF4,PER1,PFAS,PHF23,PITPNM3,PLSCR3,POLR2A,RANGRF,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TEKT1,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,VAMP2,WRAP53,XAF1,YBX2,ZBTB4 chr17 6444988 6445095 Gain and loss Pancreatic cancer SNP array 17952125 PITPNM3 chr17 6444988 6445095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNM3 chr17 6445006 6445095 Gain and loss Pancreatic cancer SNP array 17952125 PITPNM3 chr17 64472522 64472854 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCA chr17 64482369 64568731 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCA chr17 64482369 64568731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCA chr17 64482369 64568731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCA chr17 64482580 64568731 Gain and loss Pancreatic cancer SNP array 17952125 PRKCA chr17 64489772 64489872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCA chr17 64586441 64649610 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PRKCA chr17 64586442 64649610 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCA chr17 64586442 64649610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCA chr17 64586442 64649610 Gain and loss Pancreatic cancer SNP array 17952125 PRKCA chr17 64586442 64649610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCA chr17 64599247 64599557 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCA chr17 64600000 68400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SNORA38B,WIPI1 chr17 64600000 68400000 Copy number Breast cancer SMRT array 16417655 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SNORA38B,WIPI1 chr17 64600000 68400000 Copy number Normal - 20680643 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SNORA38B,WIPI1 chr17 64600000 68400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SNORA38B,WIPI1 chr17 64600000 68400000 Gain Breast cancer aCGH 21045282 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,CACNG1,CACNG4,CACNG5,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,SLC16A6,SNORA38B,WIPI1 chr17 64600000 72200000 Gain,loss Breast cancer - 16397240 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,C17orf80,CACNG1,CACNG4,CACNG5,CDC42EP4,COG1,CPSF4L,FAM104A,FAM20A,HELZ,KCNJ16,KCNJ2,KCNJ2-AS1,KPNA2,LINC00469,LINC00511,LINC00673,LINC00674,LOC400620,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR634,MIR635,NOL11,PITPNC1,PRKAR1A,PRKCA,PSMD12,RPL38,SDK2,SLC16A6,SLC39A11,SNORA38B,SOX9,SSTR2,WIPI1 chr17 64600537 65148453 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CACNG1,CACNG4,CACNG5,HELZ,MIR634,PRKCA chr17 64600537 65849559 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BPTF,CACNG1,CACNG4,CACNG5,HELZ,MIR634,NOL11,PITPNC1,PRKCA,PSMD12,SNORA38B chr17 64606667 64606767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCA chr17 64616201 65046300 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNG1,CACNG4,CACNG5,MIR634,PRKCA chr17 64642025 64676507 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKCA chr17 64650205 64752582 Gain and loss Pancreatic cancer SNP array 17952125 PRKCA chr17 64655743 64752551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCA chr17 64655743 64752551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCA chr17 64656019 64656177 Gain and loss Pancreatic cancer SNP array 17952125 PRKCA chr1 76466419 77200494 Duplication Intellectual disability Array CGH 22102821 ST6GALNAC3 chr17 64700255 64733873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKCA chr17 64723876 64723943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCA chr17 64754387 64834885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR634,PRKCA chr17 64754387 64834885 Gain and loss Pancreatic cancer SNP array 17952125 MIR634,PRKCA chr17 64754387 64834885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR634,PRKCA chr17 64783654 64783754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCA chr17 6481001 6485000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0753 chr17 64812314 64812414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 64815477 64815572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 64818795 64818889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 64848142 64848286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 6484946 6488585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0753 chr17 6484946 6488585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0753 chr17 6485001 6558500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf100,KIAA0753,MED31,TXNDC17 chr17 6485051 6487342 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0753 chr17 64855959 64860419 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 64862868 64862965 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 64862868 64862965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6487357 6495678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0753 chr17 6487357 6495678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0753 chr17 6487789 6495650 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0753 chr17 64921203 64953449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 64922432 65050065 Copy number Lung cancer - 20668451 CACNG1,CACNG4 chr17 64922432 65050065 Gain or loss Breast cancer - 20668451 CACNG1,CACNG4 chr17 64922432 65050065 Gain or loss Cancer - 20668451 CACNG1,CACNG4 chr17 64922432 65050065 Gain or loss Lung cancer - 20668451 CACNG1,CACNG4 chr17 64922432 65050065 Gain or loss Ovarian cancer - 20668451 CACNG1,CACNG4 chr17 64922432 65050065 Gain or loss Pancreas cancer - 20668451 CACNG1,CACNG4 chr17 64922432 65050065 Gain or loss Prostate cancer - 20668451 CACNG1,CACNG4 chr17 64922433 65050046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNG1,CACNG4 chr17 64922433 65050046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG1,CACNG4 chr17 64922434 65051067 Gain and loss Pancreatic cancer SNP array 17952125 CACNG1,CACNG4 chr17 649335 829760 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DBIL5P,GEMIN4,GLOD4,NXN,RNMTL1 chr17 649335 829760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DBIL5P,GEMIN4,GLOD4,NXN,RNMTL1 chr17 649335 829760 Gain and loss Pancreatic cancer SNP array 17952125 DBIL5P,GEMIN4,GLOD4,NXN,RNMTL1 chr17 649335 829760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DBIL5P,GEMIN4,GLOD4,NXN,RNMTL1 chr17 64942602 64942702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 6495695 6497317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0753 chr17 6495695 6497317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0753 chr17 6495783 6497273 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0753 chr1 76496557 76496657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 76496719 76496797 Deletion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr17 64975387 64975474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNG4 chr17 6500000 10700000 Copy number Ductal carcinoma Array CGH 18381933 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 6500000 10700000 Copy number Li-fraumeni syndrome References 19566914 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 6500000 10700000 Copy number Meningioma FISH 19431122 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 6500000 10700000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 6500000 10700000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 6500000 10700000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 6500000 10700000 Loss Lung adenocarcinoma Agilent 44k arrays 19525976 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 6500000 10700000 Loss Lung cancer Agilent 44k arrays 19525976 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MED31,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 6500000 16000000 Loss and deletion Multiple myeloma Array CGH 16616336 ACADVL,ACAP1,ADORA2B,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGAP44,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf100,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,COX10,COX10-AS1,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DNAH9,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,FAM18B2,FAM18B2-CDRT4,FBXO39,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,HS3ST3A1,HS3ST3B1,KCNAB3,KCTD11,KDM6B,KIAA0753,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MAP2K4,MED31,MEIS3P1,MFSD6L,MGC12916,MIR195,MIR324,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,PMP22,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TBC1D26,TEKT1,TEKT3,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TTC19,TXNDC17,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4,ZNF18,ZNF286A,ZSWIM7 chr17 6500000 22200000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACADVL,ACAP1,ADORA2B,ADPRM,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOX15P1,ALOXE3,ARHGAP44,ARHGEF15,ASGR1,ASGR2,ATP1B2,ATPAF2,AURKB,B9D1,BCL6B,C17orf100,C17orf103,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CTC1,CTDNEP1,CYB5D1,DHRS7B,DHRS7C,DLG4,DNAH2,DNAH9,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FLJ36000,FOXO3B,FXR2,GABARAP,GAS7,GID4,GLP2R,GPS2,GRAP,GRAPL,GUCY2D,HES7,HS3ST3A1,HS3ST3B1,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0753,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100506713,LOC284023,LOC339240,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED31,MED9,MEIS3P1,MFAP4,MFSD6L,MGC12916,MIR1180,MIR1288,MIR195,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MPDU1,MPRIP,MTRNR2L1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NT5M,NTN1,ODF4,PEMT,PER1,PFAS,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PLD6,PLSCR3,PMP22,POLR2A,PRPSAP2,RAI1,RANGRF,RASD1,RCVRN,RNASEK,RNASEK-C17ORF49,RNF112,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SHMT1,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SOX15,SPDYE4,SPECC1,SPEM1,SREBF1,STX8,TBC1D26,TBC1D28,TEKT1,TEKT3,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV2,TTC19,TXNDC17,UBB,ULK2,USP22,USP32P1,USP32P2,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr17 6501035 6516050 Allelic imbalance Normal High-resolution SNP genotyping 21211785 KIAA0753 chr17 65020990 65021082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNG4 chr17 6502549 6502957 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0753 chr17 65046301 67576300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,CACNG1,FAM20A,HELZ,KPNA2,LINC00674,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR635,NOL11,PITPNC1,PRKAR1A,PSMD12,SLC16A6,SNORA38B,WIPI1 chr17 6507086 6507186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0753 chr17 6517938 7151349 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACADVL,ALOX12,ALOX12P2,ALOX15P1,ASGR1,ASGR2,BCL6B,C17orf100,C17orf49,CLEC10A,CTDNEP1,DLG4,DVL2,FBXO39,GABARAP,KIAA0753,LOC100506713,MED31,MIR195,MIR324,MIR4520A,MIR4520B,MIR497,MIR497HG,PHF23,RNASEK,RNASEK-C17ORF49,SLC13A5,SLC16A11,SLC16A13,TEKT1,TXNDC17,XAF1 chr17 65225865 65435673 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HELZ,PITPNC1,PSMD12 chr17 6528765 6557409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf100,KIAA0753,MED31,TXNDC17 chr17 6528765 6557409 Gain and loss Pancreatic cancer SNP array 17952125 C17orf100,KIAA0753,MED31,TXNDC17 chr17 6528765 6557409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf100,KIAA0753,MED31,TXNDC17 chr17 65308501 65310500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 6538556 6538656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0753 chr17 65403530 65490775 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PITPNC1 chr1 76541308 76541385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ST6GALNAC3 chr17 65456597 65456683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNC1 chr17 65493722 65493828 Gain and loss Pancreatic cancer SNP array 17952125 PITPNC1 chr17 65493722 65493830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNC1 chr17 65493722 65493831 Gain and loss Pancreatic cancer SNP array 17952125 PITPNC1 chr1 76551059 77178172 LOH Normal High-resolution SNP genotyping 21211785 ST6GALNAC3 chr17 65546621 65546772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITPNC1 chr17 65552037 65552137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITPNC1 chr17 65577710 67409605 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,BPTF,C17orf58,FAM20A,KPNA2,LINC00674,LOC440461,MIR4524A,MIR4524B,MIR635,NOL11,PITPNC1,PRKAR1A,SLC16A6,SNORA38B,WIPI1 chr17 65583021 65643339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PITPNC1 chr17 65583021 65643339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PITPNC1 chr17 65583021 65643339 Gain and loss Pancreatic cancer SNP array 17952125 PITPNC1 chr17 65583021 65643339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNC1 chr17 65598518 65893913 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPTF,NOL11,PITPNC1,SNORA38B chr17 656097 656279 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DBIL5P chr17 65640407 65640507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITPNC1 chr17 65661833 65662140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PITPNC1 chr17 65671520 65671852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PITPNC1 chr17 65677271 65687755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PITPNC1 chr17 65677271 65687755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNC1 chr17 65677271 65687776 Gain and loss Pancreatic cancer SNP array 17952125 PITPNC1 chr17 65684274 65684811 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PITPNC1 chr17 6584338 9759236 Deletion Breast cancer FISH 17142309 ACADVL,ACAP1,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FBXO39,FGF11,FXR2,GABARAP,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LOC100128288,LOC100506713,LOC284023,LSMD1,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH10,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PLSCR3,POLR2A,RANGRF,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SLC13A5,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TEKT1,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,XAF1,YBX2,ZBTB4 chr17 658469 658566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DBIL5P chr17 65849961 65872211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPTF chr17 65866383 65869463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPTF chr17 65866907 65878846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPTF chr1 76591856 76592519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GALNAC3 chr17 6593711 6593801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC13A5 chr17 65950899 65990536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPTF,C17orf58 chr17 65951509 65974958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPTF chr17 65954096 65964343 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BPTF chr17 65958694 65975339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPTF chr17 65961497 66012668 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPTF,C17orf58 chr17 65964701 65974500 Deletion Glioma mate-paired sequence 20126413 BPTF chr17 65966682 65972771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BPTF chr17 659844 660329 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 6599518 6619686 Gain and loss Pancreatic cancer SNP array 17952125 SLC13A5 chr17 6599880 6619686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC13A5 chr17 6599880 6619686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC13A5 chr17 66050973 66051050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 6606533 6606633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC13A5 chr17 66095452 66128351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00674 chr17 66119992 78599918 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACOX1,AFMID,AMZ2,ARMC7,ARSG,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM20A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LINC00674,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LOC440461,MAP2K6,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR635,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRKAR1A,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC16A6,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,WIPI1,ZACN chr17 66130277 66130367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00674 chr17 66190000 69450000 Amplification Sezary syndrome Array-based CGH 18413736 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,FAM20A,KCNJ16,KCNJ2,KCNJ2-AS1,LOC440461,MAP2K6,MIR4524A,MIR4524B,MIR635,PRKAR1A,SLC16A6,WIPI1 chr17 66200578 67393626 Deletion Honadal dysgenesis Affymetrix Genome-Wide Human SNP Array 6.0 21408189 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,AMZ2,ARSG,FAM20A,MIR4524A,MIR4524B,MIR635,PRKAR1A,SLC16A6,WIPI1 chr17 66201793 66415476 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 AMZ2,ARSG,SLC16A6 chr17 6620296 6631688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6620296 6631688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6620296 6631688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 66271499 66271599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARSG,SLC16A6 chr17 66272 68104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 66303786 68152257 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ARSG,FAM20A,KCNJ16,MAP2K6,MIR4524A,MIR4524B,MIR635,PRKAR1A,WIPI1 chr17 66323276 66323353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARSG chr17 6634453 6634528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 66345555 66345635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARSG chr17 66437827 66557480 Gain Stenocardia MACArray Karyo 82K BAC-chips 21860640 FAM20A,PRKAR1A,WIPI1 chr17 66437827 66557480 Gain Vasospasm MACArray Karyo 82K BAC-chips 21860640 FAM20A,PRKAR1A,WIPI1 chr17 6644023 6675784 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 XAF1 chr17 6644025 6675784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XAF1 chr17 6644025 6675784 Gain and loss Pancreatic cancer SNP array 17952125 XAF1 chr17 6644025 6675784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XAF1 chr17 66443007 66473309 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WIPI1 chr17 66445435 66445503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WIPI1 chr17 66514750 66514817 Gain and loss Pancreatic cancer SNP array 17952125 PRKAR1A chr17 66514750 66514817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKAR1A chr1 7667001 7675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMTA1 chr17 66711133 78473884 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AANAT,ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,MAP2K6,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4524A,MIR4524B,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 66762850 66762927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 66776271 66776271 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 667764 2301157 LOH Normal - 20944671 ABR,BHLHA9,CRK,DPH1,GLOD4,HIC1,INPP5K,MIR132,MIR212,MIR22,MIR22HG,MIR3183,MNT,MYO1C,NXN,OVCA2,PITPNA,PITPNA-AS1,PRPF8,RILP,RNMTL1,RPA1,RTN4RL1,SCARF1,SERPINF1,SERPINF2,SGSM2,SLC43A2,SMG6,SMYD4,SNORD91A,SNORD91B,SRR,TIMM22,TLCD2,TSR1,TUSC5,WDR81,YWHAE chr17 66783223 66798956 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 66804163 66818256 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr17 66818876 66818978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 66818898 66818972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 66818898 66818972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 66874156 67526988 LOH Normal High-resolution SNP genotyping 21211785 ABCA10,ABCA5,ABCA6,ABCA8,ABCA9,MAP2K6,MIR4524A,MIR4524B chr17 668801 673200 Deletion Glioma mate-paired sequence 20126413 GLOD4 chr17 66926241 66926341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA8 chr1 76694115 76716909 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ST6GALNAC3 chr17 66970306 66970406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7669703 7669798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 6697619 6744391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEKT1 chr17 6697619 6744391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT1 chr17 66980603 67547349 LOH Normal High-resolution SNP genotyping 21211785 ABCA10,ABCA5,ABCA6,ABCA9,MAP2K6,MIR4524A,MIR4524B chr1 766985 772112 Gain Normal Birdsuite, version 1.5.2 22087296 LOC643837 chr17 67015316 67015404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA9 chr17 670448 671585 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GLOD4 chr17 67046361 67046451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA9 chr17 670597 671735 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GLOD4 chr17 67089486 67089586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA6 chr17 67095363 67095463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA6 chr17 670962 671412 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GLOD4 chr17 67100000 70900000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABCA10,ABCA5,ABCA6,KCNJ16,KCNJ2,KCNJ2-AS1,LINC00511,LINC00673,MAP2K6,SLC39A11,SOX9 chr17 67100000 70900000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 ABCA10,ABCA5,ABCA6,KCNJ16,KCNJ2,KCNJ2-AS1,LINC00511,LINC00673,MAP2K6,SLC39A11,SOX9 chr17 67105690 67126023 Amplification or deletion Cancer Array CGH 17440070 ABCA6 chr17 6710734 6711057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TEKT1 chr17 67115629 67115714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA6 chr17 67128717 67129172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA6 chr17 67128717 67129172 Gain and loss Pancreatic cancer SNP array 17952125 ABCA6 chr17 67128717 67129172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA6 chr17 67157099 67188301 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABCA10 chr17 67363735 67364061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 67395846 67395908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 67481954 78653589 Gain Urothelial carcinoma array CGH validated by FISH 21177765 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,MAP2K6,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 67482222 67482322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2K6 chr1 76751065 78166209 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AK5,PIGK,ST6GALNAC3,ST6GALNAC5,USP33,ZZZ3 chr17 67541 74649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 67546359 67546975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 67546359 67546975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 67546503 67546634 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 67548060 67548212 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 67576301 67804000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 67616001 67623500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 67623501 67632000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 67628755 67634155 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 67628755 67634155 Deletion,duplication Disorders of sex development - 22290220 NOT_FOUND chr17 67628755 67634155 Duplication Infertility oligonucleotide array-CGH 21653197 NOT_FOUND chr17 67628756 67634147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 67628756 67634147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 67628756 67634147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 67632001 68672000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNJ16,KCNJ2,KCNJ2-AS1 chr17 67648187 67648287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 67649425 67649457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 76774618 76774747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC3 chr17 67758657 67758774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 67804001 70460500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNJ16,KCNJ2,KCNJ2-AS1,LINC00673,SOX9 chr1 7678147 7678247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 67828091 67828147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 67836654 67836854 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 67836654 67836854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 76785043 76785143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC3 chr17 67876525 67876625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 6788929 6824697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALOX12P2 chr17 6791092 7741807 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ACADVL,ACAP1,ALOX12,ALOX12P2,ASGR1,ASGR2,ATP1B2,BCL6B,C17orf49,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHRNB1,CLDN7,CLEC10A,CTDNEP1,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GPS2,KCTD11,LOC100506713,MIR195,MIR324,MIR497,MIR497HG,MPDU1,NEURL4,NLGN2,PHF23,PLSCR3,POLR2A,RNASEK,RNASEK-C17ORF49,RPL29P2,SAT2,SENP3,SENP3-EIF4A1,SHBG,SLC16A11,SLC16A13,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,WRAP53,YBX2,ZBTB4 chr17 67925728 67956100 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 67932116 67935111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 6800000 11200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Copy number Spondylocostal dysostosis high-resolution SNP arrays 21085971 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Copy number Squamous cell cancer aCGH 20885788 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Deletion Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Deletion Normal - 22101487 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Loss Barrett's adenocarcinoma FISH 18663352 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Loss Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 11200000 Microdeletion Mental retardation array-CGH 19617690 ACADVL,ACAP1,ADPRM,ALOX12,ALOX12B,ALOX12P2,ALOX15B,ALOXE3,ARHGEF15,ASGR1,ASGR2,ATP1B2,AURKB,BCL6B,C17orf49,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC100506713,LOC284023,LSMD1,MAGOH2,MFSD6L,MIR195,MIR324,MIR3676,MIR4314,MIR4521,MIR497,MIR497HG,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNASEK,RNASEK-C17ORF49,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC16A11,SLC16A13,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4 chr17 6800000 7700000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ACADVL,ACAP1,ALOX12,ALOX12P2,ASGR1,ASGR2,ATP1B2,BCL6B,C17orf49,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHRNB1,CLDN7,CLEC10A,CTDNEP1,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GPS2,KCTD11,LOC100506713,MIR195,MIR324,MIR497,MIR497HG,MPDU1,NEURL4,NLGN2,PHF23,PLSCR3,POLR2A,RNASEK,RNASEK-C17ORF49,RPL29P2,SAT2,SENP3,SENP3-EIF4A1,SHBG,SLC16A11,SLC16A13,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,WRAP53,YBX2,ZBTB4 chr17 68012177 68012277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68031982 78774742 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1108K arrays 21546498 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCNJ16,KCNJ2,KCNJ2-AS1,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 68153684 68600427 Amplification T-cell lymphomas Array-CGH 22341440 KCNJ2,KCNJ2-AS1 chr17 68153684 68600427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNJ2,KCNJ2-AS1 chr17 68153684 68600427 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ2,KCNJ2-AS1 chr17 68153684 68600427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ2,KCNJ2-AS1 chr17 6815457 6815758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 68171557 68171886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ2 chr17 68171560 68171886 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ2 chr17 68171647 68171886 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ2 chr17 68176891 68176991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68185203 68185303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68222117 68222205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68247215 68258566 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr17 68263039 70880595 Gain small cell lung cancer Real-time Quantitative PCR 17426248 LINC00511,LINC00673,SLC39A11,SOX9 chr17 68279366 68804498 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 68279366 68809132 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 68279366 68855020 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr17 6829166 6856377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68308977 68309125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 6831508 6831627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6831508 6831629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6831512 6831620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68326570 68326706 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68326570 68326706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68326571 68326704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68326823 68332955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 68349209 68370584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68353185 68374578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68354189 68363238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68357154 68357410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68357243 68357771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 68357270 68357382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68357486 68357541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68361430 68390648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68362993 68368420 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68363561 68363661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68369705 68372244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68380180 68391836 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68380369 68386039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68385498 68391299 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 6839001 7017500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALOX12,ASGR2,BCL6B,C17orf49,CLEC10A,LOC100506713,MIR195,MIR497,MIR497HG,RNASEK,RNASEK-C17ORF49,SLC16A11,SLC16A13 chr1 76839010 76839090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC3 chr17 68400000 72200000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,LINC00469,LINC00511,LINC00673,LOC400620,RPL38,SDK2,SLC39A11,SOX9,SSTR2 chr17 68400000 72200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,LINC00469,LINC00511,LINC00673,LOC400620,RPL38,SDK2,SLC39A11,SOX9,SSTR2 chr17 68400000 72200000 Copy number Breast cancer SMRT array 16417655 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,LINC00469,LINC00511,LINC00673,LOC400620,RPL38,SDK2,SLC39A11,SOX9,SSTR2 chr17 68400000 72200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,LINC00469,LINC00511,LINC00673,LOC400620,RPL38,SDK2,SLC39A11,SOX9,SSTR2 chr17 68400000 72200000 Duplication Mental retardation \N 21062444 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,LINC00469,LINC00511,LINC00673,LOC400620,RPL38,SDK2,SLC39A11,SOX9,SSTR2 chr17 68400000 72200000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,LINC00469,LINC00511,LINC00673,LOC400620,RPL38,SDK2,SLC39A11,SOX9,SSTR2 chr17 68400000 78774742 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 68400000 78774742 Gain Cancer array-based techniques 21183584 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 68400000 78774742 Gain,loss Breast cancer - 16397240 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 68400000 78774742 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 68400000 78774742 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 6840108 6854779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6840108 6854779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6840128 6854776 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68420647 68466772 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 68429991 78599918 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 68468932 68469640 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr17 68480897 68633353 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 68503380 68513309 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 68505941 68506041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 6856522 6858574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6856522 6858574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6856652 6858479 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6856652 6858479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6856703 6861562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 685675 685984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNMTL1 chr17 685675 686074 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RNMTL1 chr17 685759 686158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNMTL1 chr17 6858848 6861562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6858848 6861562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6861658 6861744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6861658 6861744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6861954 6862065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6861954 6862065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6867092 6873685 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr17 6867093 6873685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6867093 6873685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6867113 6872088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68672001 68674000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 68672754 68679657 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 68672754 68679657 Gain or loss Cancer - 20668451 NOT_FOUND chr17 68672754 68679657 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 68672754 68679657 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 68672754 68679657 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 68672754 68679657 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 68672755 68679655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68672755 68679655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68672755 68679655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68672755 68679689 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 68695468 68695568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68700366 68716237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68700559 68700660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 68700563 68700664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 68700768 68716240 Copy number Autism exome sequencing 22495311 NOT_FOUND chr17 68700768 68716241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68700768 68716241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68700778 68716241 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 68715086 68740128 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 68715087 68740105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68715100 68740013 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 68715100 68740043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68720014 74945222 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AANAT,ACOX1,ARMC7,ATP5H,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,CASKIN2,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,DNAI2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FOXJ1,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LINC00469,LINC00511,LINC00673,LLGL2,LOC100287042,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4738,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NT5C,NUP85,OTOP2,OTOP3,PRCD,PRPSAP1,QRICH2,RAB37,RECQL5,RHBDF2,RNF157,RNF157-AS1,RPL38,SAP30BP,SDK2,SLC16A5,SLC25A19,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,TEN1,TEN1-CDK3,TMEM104,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,WBP2,ZACN chr17 68729134 78311473 Gain Prostate cancer Array CGH 18632612 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr1 76872955 76873237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ST6GALNAC3 chr17 68740357 68769540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68740370 68756690 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 68740371 68756607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68740371 68756686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68740371 68756686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68740953 68755258 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 68742643 68777144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 68757527 68770086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68765001 69153500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 76877495 76878244 Gain and loss Pancreatic cancer SNP array 17952125 ST6GALNAC3 chr17 68789607 68789707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68791357 68819738 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 68791358 68794348 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 68791359 68819738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68791359 68819738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68791359 68819738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6880118 6884163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6880118 6884163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6880426 6884005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68833778 68833878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 68842118 69015332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68842118 69015332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68842119 68945808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 68842119 69015332 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 68845408 68945503 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 6885673 6887966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 6885673 6887966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6885673 6887966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 68881570 68882400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 68881597 68882427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 7689025 7689095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 69055869 69055969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 6910862 6910962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALOX12,LOC100506713 chr17 69131540 69131640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 6913509 6922013 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ALOX12,C17orf49,LOC100506713,MIR195,MIR497,MIR497HG,RNASEK,RNASEK-C17ORF49 chr17 691489 691681 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RNMTL1 chr17 69153501 69701000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 6918581 6924272 Gain and loss Pancreatic cancer SNP array 17952125 C17orf49,MIR195,MIR497,MIR497HG,RNASEK-C17ORF49 chr17 6918581 6924324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf49,MIR195,MIR497,MIR497HG,RNASEK-C17ORF49 chr17 6918581 6924324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf49,MIR195,MIR497,MIR497HG,RNASEK-C17ORF49 chr17 69234006 69234625 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 69234046 69234597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 69256798 69257556 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 69257004 69331560 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 69257571 69259206 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 69258158 69331560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69258158 69336254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69294691 70223971 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1095K arrays 21546498 SOX9 chr1 76930841 76930942 Gain and loss Pancreatic cancer SNP array 17952125 ST6GALNAC3 chr1 76930842 76930940 Gain and loss Pancreatic cancer SNP array 17952125 ST6GALNAC3 chr17 69320954 70223971 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1083K arrays 21546498 SOX9 chr17 69334637 69334737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 69343533 70192637 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SOX9 chr17 69345596 70202513 Gain Autism Illumina 550K(Glessner et al. 2009), Affy5.0 (Bucan et al. 2009) 20531469 SOX9 chr17 69365156 69365351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 69365641 69399419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 76938059 76938846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GALNAC3 chr1 76940441 76940541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC3 chr17 69430000 73160000 Loss Acute lymphoblastic leukemia - 21339820 ARMC7,ATP5H,BTBD17,C17orf28,C17orf77,C17orf80,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDR2L,COG1,CPSF4L,DNAI2,FADS6,FAM104A,FDXR,GPR142,GPRC5C,GRIN2C,HN1,ICT1,KCTD2,KIF19,LINC00469,LINC00511,LINC00673,LOC400620,MGC16275,MIR3615,NAT9,NT5C,OTOP2,OTOP3,RAB37,RPL38,SDK2,SLC16A5,SLC39A11,SLC9A3R1,SOX9,SSTR2,TMEM104,TTYH2,USH1G chr17 69440062 70199660 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1102K arrays 21546498 SOX9 chr17 6945365 6958803 Gain and loss Pancreatic cancer SNP array 17952125 SLC16A11 chr17 6945365 6958852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC16A11 chr17 6945365 6958852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC16A11 chr17 6946699 7923866 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-252K arrays 21546498 ACADVL,ACAP1,ASGR1,ASGR2,ATP1B2,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTDNEP1,CYB5D1,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GPS2,GUCY2D,KCNAB3,KCTD11,KDM6B,LOC284023,LSMD1,MIR324,MPDU1,NEURL4,NLGN2,PHF23,PLSCR3,POLR2A,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SLC16A11,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,WRAP53,YBX2,ZBTB4 chr17 6946699 7923866 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1079K arrays 21546498 ACADVL,ACAP1,ASGR1,ASGR2,ATP1B2,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHD3,CHRNB1,CLDN7,CLEC10A,CNTROB,CTDNEP1,CYB5D1,DLG4,DNAH2,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GPS2,GUCY2D,KCNAB3,KCTD11,KDM6B,LOC284023,LSMD1,MIR324,MPDU1,NEURL4,NLGN2,PHF23,PLSCR3,POLR2A,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SLC16A11,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,WRAP53,YBX2,ZBTB4 chr17 69523208 70223971 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1106K arrays 21546498 SOX9 chr17 6957546 6957578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 69584842 69584942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 69618356 69618450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 76962851 76962951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC3 chr17 69662517 69662617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 69684458 74597283 Gain Malignant melanoma BAC array CGH 17260012 AANAT,ACOX1,ARMC7,ATP5H,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,CASKIN2,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,DNAI2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FOXJ1,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,KCTD2,KIAA0195,KIF19,LINC00469,LINC00511,LINC00673,LLGL2,LOC100287042,LOC400620,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4738,MRPL38,MRPS7,MYO15B,NAT9,NT5C,NUP85,OTOP2,OTOP3,PRCD,PRPSAP1,QRICH2,RAB37,RECQL5,RHBDF2,RNF157,RNF157-AS1,RPL38,SAP30BP,SDK2,SLC16A5,SLC25A19,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOX9,SPHK1,SRP68,SSTR2,ST6GALNAC2,SUMO2,TEN1,TEN1-CDK3,TMEM104,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,WBP2,ZACN chr17 69685308 69685402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 69688964 69689044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 69689099 78513583 Duplication Myelodysplastic syndrome - 21251322 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 69701001 69718500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69711390 69717603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 69711390 69717603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69711390 69717603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69711418 69717612 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69718501 69724500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69721291 69769750 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 69721291 69769750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69721291 69769750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69721312 69769750 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69724501 69833000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69768787 70239827 Loss Normal 244K array 17666407 SOX9 chr17 69782007 69822617 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 69782007 69822617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69782007 69822617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69782024 69822617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69800000 78300000 Duplication abnormal development HR-CGH, Array-CGH 18461090 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 69809652 69809855 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 76981280 76981350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC3 chr17 69813685 69813835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 69833001 69845500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69833546 69882691 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 69833946 69863554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69833965 69859062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69845501 69852500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 6985006 6985632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 6985006 6987242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69851956 70220158 Gain Autism Exome sequencing and CGH 22495309 SOX9 chr17 69852501 69880500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69858501 69859866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69864150 69869553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69864150 69869553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69864391 69869553 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 69875240 69880334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69875240 69880334 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69875240 69880334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69880501 69938000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69904711 69904844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 76991412 76991513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GALNAC3 chr17 69925325 69925437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69925328 69925438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69925346 69925438 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69938001 69941500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69938647 69958314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 69938647 69958314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69938647 69958314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69938647 69958314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69939261 69958314 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 69939261 69958314 Gain or loss Cancer - 20668451 NOT_FOUND chr17 69939261 69958314 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 69939261 69958314 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 69939261 69958314 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 69939261 69958314 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 69941501 69950500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69945050 69945150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 69950501 69963000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69963001 70046000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 69974117 69992524 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 69974117 69992524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69974117 69992524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 69974150 69992522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 69987407 78623230 Deletion Myelodysplastic syndrome - 21251322 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00511,LINC00673,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SOX9,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 69994475 69994570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 7000 21457000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABR,ACADVL,ACAP1,ADORA2B,ADPRM,AIPL1,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ALOX12,ALOX12B,ALOX12P2,ALOX15,ALOX15B,ALOX15P1,ALOXE3,ANKFY1,ARHGAP44,ARHGEF15,ARRB2,ASGR1,ASGR2,ASPA,ATP1B2,ATP2A3,ATPAF2,AURKB,B9D1,BCL6B,BHLHA9,C17orf100,C17orf103,C17orf107,C17orf49,C17orf51,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf76-AS1,C17orf85,C17orf97,C1QBP,CAMKK1,CAMTA2,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CCDC42,CD68,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CHRNE,CLDN7,CLEC10A,CNTROB,COPS3,COX10,COX10-AS1,CRK,CTC1,CTDNEP1,CTNS,CXCL16,CYB5D1,CYB5D2,DBIL5P,DERL2,DHRS7B,DHRS7C,DHX33,DLG4,DNAH2,DNAH9,DOC2B,DPH1,DRG2,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,EMC6,ENO3,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM101B,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM57A,FAM64A,FAM83G,FBXO39,FBXW10,FGF11,FLCN,FLII,FOXO3B,FXR2,GABARAP,GAS7,GEMIN4,GGT6,GID4,GLOD4,GLP2R,GLTPD2,GP1BA,GPS2,GRAP,GRAPL,GSG2,GUCY2D,HES7,HIC1,HS3ST3A1,HS3ST3B1,INCA1,INPP5K,ITGAE,KCNAB3,KCNJ12,KCNJ18,KCTD11,KDM6B,KIAA0664,KIAA0753,KIF1C,KRBA2,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00324,LINC00670,LINC00675,LLGL1,LOC100128288,LOC100130950,LOC100506388,LOC100506713,LOC284009,LOC284023,LOC339166,LOC339240,LOC728392,LRRC48,LSMD1,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED11,MED31,MED9,MEIS3P1,METTL16,MFAP4,MFSD6L,MGC12916,MINK1,MIR1180,MIR1253,MIR1288,MIR132,MIR195,MIR212,MIR22,MIR22HG,MIR3183,MIR324,MIR33B,MIR3676,MIR4314,MIR4520A,MIR4520B,MIR4521,MIR4731,MIR497,MIR497HG,MIR744,MIS12,MNT,MPDU1,MPRIP,MYBBP1A,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYO1C,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NLRP1,NT5M,NTN1,NUP88,NXN,ODF4,OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4P,OVCA2,P2RX1,P2RX5,P2RX5-TAX1BP3,PAFAH1B1,PELP1,PEMT,PER1,PFAS,PFN1,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PITPNA,PITPNA-AS1,PITPNM3,PLD2,PLD6,PLSCR3,PMP22,POLR2A,PRPF8,PRPSAP2,PSMB6,RABEP1,RAI1,RANGRF,RAP1GAP2,RASD1,RCVRN,RILP,RNASEK,RNASEK-C17ORF49,RNF112,RNF167,RNF222,RNMTL1,RPA1,RPAIN,RPH3AL,RPL26,RPL29P2,RTN4RL1,SAT2,SCARF1,SCARNA21,SCIMP,SCO1,SENP3,SENP3-EIF4A1,SERPINF1,SERPINF2,SGSM2,SHBG,SHISA6,SHMT1,SHPK,SLC13A5,SLC16A11,SLC16A13,SLC25A11,SLC25A35,SLC2A4,SLC35G6,SLC43A2,SLC47A1,SLC47A2,SLC52A1,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SMG6,SMTNL2,SMYD4,SNORA48,SNORA59A,SNORA59B,SNORA67,SNORD10,SNORD49A,SNORD49B,SNORD65,SNORD91A,SNORD91B,SOX15,SPAG7,SPATA22,SPDYE4,SPECC1,SPEM1,SPNS2,SPNS3,SREBF1,SRR,STX8,TAX1BP3,TBC1D26,TBC1D28,TEKT1,TEKT3,TIMM22,TLCD2,TM4SF5,TMEM102,TMEM107,TMEM11,TMEM220,TMEM88,TMEM95,TNFRSF13B,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TOM1L2,TOP3A,TP53,TRAPPC1,TRIM16,TRIM16L,TRPV1,TRPV2,TRPV3,TSR1,TTC19,TUSC5,TXNDC17,UBB,UBE2G1,ULK2,USP22,USP32P1,USP32P2,USP43,USP6,VAMP2,VMO1,VPS53,WDR16,WDR81,WRAP53,WSCD1,XAF1,YBX2,YWHAE,ZBTB4,ZFP3,ZMYND15,ZNF18,ZNF232,ZNF286A,ZNF286B,ZNF287,ZNF594,ZNF624,ZSWIM7,ZZEF1 chr17 70011385 70011485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 70028908 70039200 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70028908 70039208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70028908 70039208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70028909 70039200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70046001 70060500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 70048842 70053877 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70048842 70053877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70048842 70053877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70048842 70053877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70057133 70060471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70060501 70243000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SOX9 chr17 70066590 70066679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 70068450 70075077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70079884 70079960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 70087099 70100017 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70087099 70100017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70092652 70101943 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70092652 70101943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70092652 70101943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70098236 70101943 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7011675 7011759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASGR2 chr17 70117160 70122552 Copy number Disorders of sex development FISH,Human OmniExpress microarray 22315593 SOX9 chr17 70117621 70131474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOX9 chr17 70117621 70131474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX9 chr17 70117621 70131474 Gain and loss Pancreatic cancer SNP array 17952125 SOX9 chr17 70117621 70131474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX9 chr1 77012651 77012726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ST6GALNAC3 chr17 7013663 7013763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASGR2 chr17 70145000 70187875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 70150682 70150816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 70150692 70150826 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 77016641 77050894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST6GALNAC3 chr17 7017474 7023386 Gain and loss Pancreatic cancer SNP array 17952125 ASGR2 chr17 7017474 7023419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASGR2 chr17 7017474 7023419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASGR2 chr17 7017501 7124500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACADVL,ASGR1,ASGR2,DLG4 chr17 70178312 70255068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70178312 70255069 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70178312 70255069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70178312 70255069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70202047 70220703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70202047 70220703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70202048 70220703 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70202048 70220712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70217550 70217650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 70217823 71547088 LOH Normal High-resolution SNP genotyping 21211785 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,LINC00511,LINC00673,SDK2,SLC39A11,SSTR2 chr17 70243001 70331500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 70256357 70277093 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 70256363 70277084 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70256363 70277084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70256363 70277084 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70256363 70277084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70256378 70277089 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr17 70278280 70284065 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 70278283 70284065 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70278283 70284065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70278283 70284065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70278283 70284095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70284254 70347484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70284257 70346213 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70284257 70346213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70284257 70346213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70294037 70294187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 70331501 70375500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 7033933 7063781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7033933 7063781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7033936 7063754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70349759 70368253 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70349761 70368561 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70349761 70368561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70349761 70368561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70349762 70367602 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 70370213 70380751 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 70370218 70380692 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70370218 70380751 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70370218 70380751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70370218 70380751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70375501 70423000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00673 chr17 70385076 70401303 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70385076 70401310 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70385076 70401310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70385076 70401310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70423001 70432500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00673 chr17 70423770 70430946 Deletion Usher type I cohort multiplex ligation-dependent probe amplification(MLPA) has been designed by MRC-Holland 21436283 LINC00673 chr17 70423771 70430946 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70423771 70430946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70423771 70430946 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70423771 70430946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70431965 70441235 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70431965 70441235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70431965 70441235 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70431965 70441235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70432501 70457000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00673 chr17 70443492 70457106 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70443492 70457106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70443492 70457106 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70443492 70457106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr1 77045147 77241756 Gain and loss Pancreatic cancer SNP array 17952125 ST6GALNAC3 chr17 7045223 7078110 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASGR1 chr17 70457001 70460000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00673 chr17 70458435 70480424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70458435 70480424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70458435 70480424 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70458435 70480424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70458918 70459154 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LINC00673 chr17 70460001 70469500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00673 chr17 70469501 70473000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00673 chr17 70473001 70481000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00673 chr17 70473612 70473687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00673 chr17 70481001 70581500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00673 chr17 70495322 70513479 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70495322 70513479 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70495322 70513490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70495322 70513490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70520364 70528950 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70520371 70528950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70520371 70528950 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70520371 70528950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70536215 70536315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00673 chr17 70540289 70573576 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LINC00673 chr17 7054388 16263388 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ACADVL,ACAP1,ADORA2B,ADPRM,ALOX12B,ALOX15B,ALOXE3,ARHGAP44,ARHGEF15,ASGR1,ATP1B2,AURKB,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,CHD3,CHRNB1,CLDN7,CNTROB,COX10,COX10-AS1,CTC1,CTDNEP1,CYB5D1,DHRS7C,DLG4,DNAH2,DNAH9,DVL2,EFNB3,EIF4A1,EIF5A,ELAC2,ELP5,FAM18B2,FAM18B2-CDRT4,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,HS3ST3A1,HS3ST3B1,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00670,LINC00675,LOC100128288,LOC284023,LSMD1,MAGOH2,MAP2K4,MEIS3P1,MFSD6L,MGC12916,MIR1288,MIR324,MIR3676,MIR4314,MIR4521,MIR4731,MIR744,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,MYOCD,NCOR1,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIGL,PIK3R5,PIK3R6,PIRT,PLSCR3,PMP22,POLR2A,RANGRF,RCVRN,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TBC1D26,TEKT3,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,TRIM16,TTC19,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4,ZNF18,ZNF286A,ZSWIM7 chr17 70546550 70554669 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70546550 70554669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70546550 70554669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70546556 70554675 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70549425 70549697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70549453 70549643 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70549453 70549643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70554874 70573574 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00673 chr17 70554874 70573574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70554874 70573574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00673 chr17 70554935 70573574 Gain and loss Pancreatic cancer SNP array 17952125 LINC00673 chr17 70581501 70639500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00511,LINC00673 chr17 70595416 70613843 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LINC00511 chr17 70595417 70613841 Gain and loss Pancreatic cancer SNP array 17952125 LINC00511 chr17 70595650 70613841 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00511 chr17 70595650 70613841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00511 chr17 70595650 70613841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00511 chr17 70597552 70597664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00511 chr17 70597554 70597664 Gain and loss Pancreatic cancer SNP array 17952125 LINC00511 chr17 70607463 71344916 LOH Normal High-resolution SNP genotyping 21211785 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,LINC00511,SDK2,SLC39A11,SSTR2 chr17 70617677 70637955 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00511 chr17 70617677 70637955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00511 chr17 70617677 70637955 Gain and loss Pancreatic cancer SNP array 17952125 LINC00511 chr17 70617677 70637955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00511 chr17 70619324 70619833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00511 chr17 70619342 70619442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00511 chr17 70625782 70625882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00511 chr17 70637919 70639472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 70637919 70639472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70637919 70639472 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70637919 70639472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7063855 7069311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7063855 7069311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70639501 70745500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr17 7063951 7069308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70642938 70662373 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70642938 70662373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70642941 70662373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70643489 70662207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70643489 70662207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70653364 70653451 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70653364 70653451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 7067336 7067424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7067340 7067422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 70673887 70673967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A11 chr17 70675003 70690660 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70677401 70682000 Deletion Glioma mate-paired sequence 20126413 SLC39A11 chr17 70680597 70704486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC39A11 chr1 77068898 77170790 Loss Bladder cancer array-CGH 21909424 ST6GALNAC3 chr17 7069384 7078587 Gain or loss Breast cancer - 20668451 ASGR1 chr17 7069384 7078587 Gain or loss Cancer - 20668451 ASGR1 chr17 7069384 7078587 Gain or loss Lung cancer - 20668451 ASGR1 chr17 7069384 7078587 Gain or loss Ovarian cancer - 20668451 ASGR1 chr17 7069384 7078587 Gain or loss Pancreas cancer - 20668451 ASGR1 chr17 7069384 7078587 Gain or loss Prostate cancer - 20668451 ASGR1 chr17 7069385 7078587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASGR1 chr17 7069385 7078587 Gain and loss Pancreatic cancer SNP array 17952125 ASGR1 chr17 7069385 7078587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASGR1 chr17 70695969 70696171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A11 chr17 70696161 70696391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A11 chr17 70713192 70743449 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70713192 70743449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70713192 70743449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70713381 70743447 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70713501 70789400 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr17 70744290 70769272 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70744290 70769272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70744290 70769272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70744290 70769299 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70745501 70750000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr17 70746990 70747025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A11 chr17 70750001 70778000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr1 77076084 77076184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC3 chr17 70767943 71305641 Amplification Cancer Affymetrix 250K Sty array 20164920 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,SLC39A11,SSTR2 chr17 70768047 71340250 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,SDK2,SLC39A11,SSTR2 chr17 70769350 70774029 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70769385 70774049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70769385 70774049 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70769385 70774049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70773908 70778898 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70773908 70778898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70773908 70778898 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70773908 70778898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 707754 1008155 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABR,MIR3183,NXN,TIMM22 chr17 70778001 70780500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr17 70780501 70998000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr17 70780669 70797109 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70780669 70797109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70780669 70797109 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70780669 70797109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70788571 71330355 Insert Cancer ultra-high resolution array CGH 21272361 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,SLC39A11,SSTR2 chr17 70789401 70966500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr17 7079070 7083549 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ASGR1 chr17 7079074 7083549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASGR1 chr17 7079074 7083549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASGR1 chr17 7079669 7083482 Gain and loss Pancreatic cancer SNP array 17952125 ASGR1 chr17 70825751 70913385 Gain or loss Breast cancer - 20668451 SLC39A11 chr17 70825751 70913385 Gain or loss Cancer - 20668451 SLC39A11 chr17 70825751 70913385 Gain or loss Lung cancer - 20668451 SLC39A11 chr17 70825751 70913385 Gain or loss Ovarian cancer - 20668451 SLC39A11 chr17 70825751 70913385 Gain or loss Pancreas cancer - 20668451 SLC39A11 chr17 70825751 70913385 Gain or loss Prostate cancer - 20668451 SLC39A11 chr17 70825752 70913384 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70825752 70913385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70825752 70913385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70825753 70913384 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 7084464 7086477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7084464 7086477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7084464 7086481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 70846503 70846823 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70846503 70846823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70846503 70846823 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70846503 70846823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 7087655 7095983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG4 chr17 7087655 7095983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG4 chr17 7087692 7096124 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 DLG4 chr17 7087883 7095983 Gain and loss Pancreatic cancer SNP array 17952125 DLG4 chr1 77088214 77088334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC3 chr17 7088628 7177898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACADVL,CLDN7,CTDNEP1,DLG4,DVL2,ELP5,GABARAP,MIR324,PHF23 chr17 70900000 74800000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AANAT,ACOX1,ARMC7,ATP5H,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,CASKIN2,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,DNAI2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FOXJ1,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LINC00469,LLGL2,LOC100287042,LOC400620,METTL23,MFSD11,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4738,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NT5C,NUP85,OTOP2,OTOP3,PRCD,PRPSAP1,QRICH2,RAB37,RECQL5,RHBDF2,RNF157,RNF157-AS1,RPL38,SAP30BP,SDK2,SLC16A5,SLC25A19,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,TEN1,TEN1-CDK3,TMEM104,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,WBP2,ZACN chr17 70900000 81195210 Amplification Hepatocellular carcinoma Array CGH 16750200 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf80,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,COG1,CPSF4L,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 70900000 81195210 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf80,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,COG1,CPSF4L,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 70900000 81195210 Deletion Chronic lymphocytic leukemia 10k and 50k Affymetrix SNP arrays 17053054 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf80,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,COG1,CPSF4L,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 70900000 81195210 Gain Breast cancer oligonucleotide CGH arrays 19602461 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf80,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,COG1,CPSF4L,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 70900000 81195210 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf80,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,COG1,CPSF4L,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 70900000 81195210 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf80,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,COG1,CPSF4L,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 70909466 78599918 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC39A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,SSTR2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 70916762 70916860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70916768 70916864 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70916768 70916864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70920000 72340000 Gain Ductal carcinoma SNP array 22052326 C17orf80,CDC42EP4,COG1,CPSF4L,DNAI2,FAM104A,KIF19,LINC00469,LOC400620,MGC16275,RPL38,SDK2,SLC39A11,SSTR2,TTYH2 chr17 70939666 70939761 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70939666 70939762 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70939666 70939763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 7096096 7103974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG4 chr17 7096096 7103974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG4 chr17 7096096 7103987 Gain and loss Pancreatic cancer SNP array 17952125 DLG4 chr17 70964317 71007758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70964317 71007758 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 70964317 71007758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 70964331 71007758 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 70966501 71320700 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,SLC39A11,SSTR2 chr17 70973977 71003489 Copy number Cancer CGH 20581869 SLC39A11 chr17 70998001 71017000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr17 7100000 7600000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ACADVL,ACAP1,ATP1B2,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHRNB1,CLDN7,CTDNEP1,DLG4,DVL2,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GPS2,KCTD11,MIR324,MPDU1,NEURL4,NLGN2,PHF23,PLSCR3,POLR2A,SAT2,SENP3,SENP3-EIF4A1,SHBG,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,WRAP53,YBX2,ZBTB4 chr17 71003700 71003783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A11 chr17 71007938 71023222 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 71007938 71023222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 71007938 71023222 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 71007938 71023222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 71017001 71120500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC39A11 chr17 71024204 71032415 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 71024204 71032415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 71024204 71032415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 71024233 71032415 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 71033372 71082884 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A11 chr17 71033372 71082884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 71033372 71082884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC39A11 chr17 71033377 71082885 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SLC39A11 chr17 7103953 7106520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG4 chr17 7104180 7107236 Gain and loss Pancreatic cancer SNP array 17952125 DLG4 chr1 77104310 77107021 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 71051068 71082884 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A11 chr17 71054231 71054470 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC39A11 chr17 71054267 71054458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC39A11 chr1 77105714 77302307 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 77105714 77302307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 77105714 77302307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71095733 71134520 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 71095734 71134520 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71097148 71101765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71097261 71098016 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 7110098 7110209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG4 chr17 7110099 7110208 Gain and loss Pancreatic cancer SNP array 17952125 DLG4 chr17 7110100 7110209 Gain and loss Pancreatic cancer SNP array 17952125 DLG4 chr17 71102896 71128597 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 71103976 71128356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71105443 71105502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 71112486 71120734 Deletion Attention deficit hyperactivity disorder - 22138692 NOT_FOUND chr17 71115773 71716069 LOH Normal High-resolution SNP genotyping 21211785 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,SDK2,SSTR2 chr17 71120501 71149500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 71128391 71134518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71128808 71134159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 71134530 71174864 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SSTR2 chr17 71134530 71174864 Gain and loss Pancreatic cancer SNP array 17952125 SSTR2 chr17 71134546 71174864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSTR2 chr17 71134546 71174864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSTR2 chr17 71142921 71151734 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr17 71144269 71149081 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 71146109 71149079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 71146109 71149079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71146109 71149079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71149501 71228500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COG1,FAM104A,SSTR2 chr17 71170000 74680000 Amplification Breast cancer aCGH 21509527 AANAT,ACOX1,ARMC7,ATP5H,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf80,CASKIN2,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDC42EP4,CDK3,CDR2L,COG1,CPSF4L,CYGB,DNAI2,EVPL,EXOC7,FADS6,FAM100B,FAM104A,FBF1,FDXR,FOXJ1,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,KCTD2,KIAA0195,KIF19,LINC00469,LLGL2,LOC100287042,LOC400620,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4738,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NT5C,NUP85,OTOP2,OTOP3,PRCD,PRPSAP1,QRICH2,RAB37,RECQL5,RHBDF2,RNF157,RNF157-AS1,RPL38,SAP30BP,SDK2,SLC16A5,SLC25A19,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SPHK1,SRP68,ST6GALNAC1,ST6GALNAC2,SUMO2,TEN1,TEN1-CDK3,TMEM104,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,WBP2,ZACN chr17 71174994 71215733 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COG1,FAM104A chr17 71174994 71215733 Gain and loss Pancreatic cancer SNP array 17952125 COG1,FAM104A chr17 71174994 71215734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COG1,FAM104A chr17 71174994 71215734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COG1,FAM104A chr17 7121361 7121417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACADVL,DLG4 chr17 71228501 71273500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf80,CPSF4L,FAM104A chr17 71229111 71265493 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C17orf80,CPSF4L chr17 71229111 71265493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf80,CPSF4L chr17 71229111 71265493 Gain and loss Pancreatic cancer SNP array 17952125 C17orf80,CPSF4L chr17 71229111 71265493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf80,CPSF4L chr17 71232370 71265494 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C17orf80,CPSF4L chr17 7124204 7132415 Copy number Autism exome sequencing 22495311 ACADVL,DVL2,MIR324 chr17 7124501 7129500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACADVL,DVL2,MIR324 chr17 7125778 7131874 Gain and loss Pancreatic cancer SNP array 17952125 ACADVL,DVL2,MIR324 chr17 7125778 7132090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACADVL,DVL2,MIR324 chr17 7125778 7132090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACADVL,DVL2,MIR324 chr17 7125801 7134137 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACADVL,DVL2,MIR324 chr17 71265613 71272875 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 71265613 71272875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71265613 71272875 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71265613 71272875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71273501 71317000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC42EP4 chr17 71284109 224326326 Copy number Glioblastoma multiforme Illumina SNP arrays 22286061 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 71284109 224326326 Gain or loss Breast cancer - 20668451 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 71284109 224326326 Gain or loss Cancer - 20668451 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 71284109 224326326 Gain or loss Lung cancer - 20668451 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 71284109 224326326 Gain or loss Ovarian cancer - 20668451 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 71284109 224326326 Gain or loss Pancreas cancer - 20668451 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 71284109 224326326 Gain or loss Prostate cancer - 20668451 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,BTBD17,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf77,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CD7,CDC42EP4,CDK3,CDR2L,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DNAI2,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM195B,FASN,FBF1,FDXR,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPR142,GPRC5C,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LINC00469,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LOC400620,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NAT9,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB37,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SDK2,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 71284112 71287455 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDC42EP4 chr17 71284112 71287455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP4 chr17 71284112 71287455 Gain and loss Pancreatic cancer SNP array 17952125 CDC42EP4 chr17 71284112 71287455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP4 chr17 71292532 71333474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDC42EP4,SDK2 chr17 71292532 71333474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP4,SDK2 chr17 71292532 71333474 Gain and loss Pancreatic cancer SNP array 17952125 CDC42EP4,SDK2 chr17 71292532 71333474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP4,SDK2 chr17 7129501 7328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAP1,C17orf61,C17orf61-PLSCR3,CLDN7,CTDNEP1,DVL2,EIF5A,ELP5,GABARAP,GPS2,KCTD11,NEURL4,NLGN2,PHF23,PLSCR3,SLC2A4,SPEM1,TMEM95,TNK1,YBX2 chr17 71304821 71304901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42EP4 chr17 71317001 71435500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDK2 chr17 7132295 7138600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DVL2,PHF23 chr17 7132295 7138600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DVL2,PHF23 chr17 7132306 7138598 Gain and loss Pancreatic cancer SNP array 17952125 DVL2,PHF23 chr17 71326491 71329666 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr17 71326491 71329666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71326491 71329666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71334901 71352393 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 SDK2 chr17 71334905 71352393 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71334905 71352393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71334905 71352393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71334940 71352393 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 7134137 12108575 LOH Normal High-resolution SNP genotyping 21211785 ACAP1,ADPRM,ALOX12B,ALOX15B,ALOXE3,ARHGEF15,ATP1B2,AURKB,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DNAH2,DNAH9,DVL2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC284023,LSMD1,MAGOH2,MAP2K4,MFSD6L,MIR3676,MIR4314,MIR4521,MIR744,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4,ZNF18 chr17 71353374 71363096 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SDK2 chr17 71353375 71363096 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71353375 71363096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71353375 71363096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71353376 71363009 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71381839 71386251 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 SDK2 chr17 71381839 71386251 Gain or loss Breast cancer - 20668451 SDK2 chr17 71381839 71386251 Gain or loss Cancer - 20668451 SDK2 chr17 71381839 71386251 Gain or loss Lung cancer - 20668451 SDK2 chr17 71381839 71386251 Gain or loss Ovarian cancer - 20668451 SDK2 chr17 71381839 71386251 Gain or loss Pancreas cancer - 20668451 SDK2 chr17 71381839 71386251 Gain or loss Prostate cancer - 20668451 SDK2 chr17 71381842 71386251 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71381842 71386251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71381842 71386251 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71381842 71386251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71386966 71391025 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SDK2 chr17 71396640 71404649 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71396640 71404649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71396640 71404649 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71396640 71404649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71399271 71399365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SDK2 chr17 71406319 71413089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71406319 71413089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71406319 71437805 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71406319 71448816 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71417520 71448816 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71417582 71448714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71417582 71448714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 7142405 8057840 Loss Developmental delay affymetrix genechip 500K/SNP 6.73 array 21147756 ACAP1,ALOX12B,ALOX15B,ALOXE3,ATP1B2,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHD3,CHRNB1,CLDN7,CNTROB,CTDNEP1,CYB5D1,DNAH2,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,LOC284023,LSMD1,MIR4314,MPDU1,NEURL4,NLGN2,PER1,PHF23,PLSCR3,POLR2A,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,WRAP53,YBX2,ZBTB4 chr17 7142477 12416952 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ACAP1,ADPRM,ALOX12B,ALOX15B,ALOXE3,ARHGEF15,ATP1B2,AURKB,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CCDC42,CD68,CHD3,CHRNB1,CLDN7,CNTROB,CTC1,CTDNEP1,CYB5D1,DHRS7C,DNAH2,DNAH9,EFNB3,EIF4A1,EIF5A,ELP5,FGF11,FXR2,GABARAP,GAS7,GLP2R,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,KRBA2,LINC00324,LINC00675,LOC100128288,LOC284023,LSMD1,MAGOH2,MAP2K4,MFSD6L,MIR3676,MIR4314,MIR4521,MIR744,MPDU1,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NEURL4,NLGN2,NTN1,ODF4,PER1,PFAS,PHF23,PIK3R5,PIK3R6,PIRT,PLSCR3,POLR2A,RANGRF,RCVRN,RNF222,RPL26,RPL29P2,SAT2,SCARNA21,SCO1,SENP3,SENP3-EIF4A1,SHBG,SHISA6,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPDYE4,SPEM1,STX8,TMEM102,TMEM107,TMEM220,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,USP43,VAMP2,WDR16,WRAP53,YBX2,ZBTB4,ZNF18 chr17 71449186 71487039 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 SDK2 chr17 71449191 71487039 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71449191 71487039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71449191 71487039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71453260 71487039 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 7148492 7276868 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACAP1,CLDN7,CTDNEP1,EIF5A,ELP5,GPS2,KCTD11,NEURL4,SLC2A4,TMEM95,YBX2 chr17 71486896 71508262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71486896 71508262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71486907 71513673 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71486936 71513675 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71486936 71513675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71486936 71513675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71507501 71537500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDK2 chr17 71508581 71513675 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SDK2 chr17 7151042 7156498 Gain and loss Pancreatic cancer SNP array 17952125 CTDNEP1,ELP5 chr17 7151090 7156496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTDNEP1,ELP5 chr17 7151090 7156496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDNEP1,ELP5 chr17 7151349 7483027 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACAP1,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHRNB1,CLDN7,CTDNEP1,EIF4A1,EIF5A,ELP5,FGF11,GPS2,KCTD11,NEURL4,NLGN2,PLSCR3,POLR2A,SENP3,SENP3-EIF4A1,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SPEM1,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,YBX2,ZBTB4 chr17 71514522 71534972 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDK2 chr17 71514522 71534972 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71514522 71535102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71514522 71535102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71520720 71558404 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 SDK2 chr17 71537501 71545000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDK2 chr17 71546786 71580202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71546786 71580202 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71546786 71580202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 7156702 7159095 Gain and loss Pancreatic cancer SNP array 17952125 ELP5 chr17 7156702 7163118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELP5 chr17 7156702 7163118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELP5 chr17 71577861 71595478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SDK2 chr17 71580001 71601500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDK2 chr17 71582479 71585168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71582479 71585168 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71582479 71585168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71582486 71585168 Gain or loss Breast cancer - 20668451 SDK2 chr17 71582486 71585168 Gain or loss Cancer - 20668451 SDK2 chr17 71582486 71585168 Gain or loss Lung cancer - 20668451 SDK2 chr17 71582486 71585168 Gain or loss Ovarian cancer - 20668451 SDK2 chr17 71582486 71585168 Gain or loss Pancreas cancer - 20668451 SDK2 chr17 71582486 71585168 Gain or loss Prostate cancer - 20668451 SDK2 chr17 71586858 71590480 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 71586904 71590342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71586904 71590342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71588682 71611451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71588682 71611451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDK2 chr17 71588693 71611406 Gain and loss Pancreatic cancer SNP array 17952125 SDK2 chr17 7159675 7173362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLDN7,ELP5 chr17 7159675 7173362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLDN7,ELP5 chr17 7159677 7173362 Gain and loss Pancreatic cancer SNP array 17952125 CLDN7,ELP5 chr17 71601501 71639500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDK2 chr17 71639501 71649000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDK2 chr17 71644012 71648966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71644020 71648966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71644020 71648966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71649001 71779000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00469 chr17 71649942 71675911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 71651451 71747985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00469 chr17 71651451 71747985 Gain and loss Pancreatic cancer SNP array 17952125 LINC00469 chr17 71651451 71747985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00469 chr17 71664167 71664241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 7167436 8239718 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ACAP1,ALOX12B,ALOX15B,ALOXE3,ARHGEF15,ATP1B2,AURKB,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHD3,CHRNB1,CNTROB,CTC1,CYB5D1,DNAH2,EFNB3,EIF4A1,EIF5A,FGF11,FXR2,GPS2,GUCY2D,HES7,KCNAB3,KCTD11,KDM6B,LINC00324,LOC284023,LSMD1,MIR3676,MIR4314,MIR4521,MPDU1,NEURL4,NLGN2,PER1,PFAS,PLSCR3,POLR2A,RANGRF,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SLC25A35,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM107,TMEM88,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,TRAPPC1,VAMP2,WRAP53,YBX2,ZBTB4 chr17 71683436 71683536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 71683568 71683728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 71692751 71692851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 71714874 71714974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 71733427 71734482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71733427 71734579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7174495 7178844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7174495 7179456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71766327 72423974 LOH Normal High-resolution SNP genotyping 21211785 BTBD17,DNAI2,GPR142,KIF19,LINC00469,LOC400620,MGC16275,RPL38,TTYH2 chr17 71773043 71778968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00469 chr17 71773043 71778968 Gain and loss Pancreatic cancer SNP array 17952125 LINC00469 chr17 71773043 71778968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00469 chr17 71773595 71815356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00469,LOC400620 chr17 71773595 71815356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00469,LOC400620 chr17 71779001 71790500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00469,LOC400620 chr17 71781727 71815356 Gain and loss Pancreatic cancer SNP array 17952125 LINC00469,LOC400620 chr17 71790501 71889000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00469,LOC400620 chr17 7180590 7195521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC2A4,YBX2 chr17 7180590 7195521 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A4,YBX2 chr17 7180590 7195521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A4,YBX2 chr17 71817834 71818006 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00469 chr17 71818609 71861825 Gain and loss Pancreatic cancer SNP array 17952125 LINC00469 chr17 71818610 71861526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00469 chr17 71818610 71861526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00469 chr17 71827053 71827146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71827053 71827146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71831872 71831973 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71831872 71831973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71844992 71845095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71844992 71845098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71869000 73160000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ARMC7,ATP5H,BTBD17,C17orf28,C17orf77,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDR2L,DNAI2,FADS6,FDXR,GPR142,GPRC5C,GRIN2C,HN1,ICT1,KCTD2,KIF19,MGC16275,MIR3615,NAT9,NT5C,OTOP2,OTOP3,RAB37,RPL38,SLC16A5,SLC9A3R1,TMEM104,TTYH2,USH1G chr17 71870781 71916016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 71873830 71876897 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 71874267 71874315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 71884336 71895536 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 71884336 71895536 Gain or loss Cancer - 20668451 NOT_FOUND chr17 71884336 71895536 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 71884336 71895536 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 71884336 71895536 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 71884336 71895536 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 71889001 71909000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 71890653 71895532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71892326 71895536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71892326 71895536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71897491 71960883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71897491 71960883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71897510 71960883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71903806 71903806 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 71909001 71974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 71910343 71910411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 71938097 71938813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7195932 7198982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YBX2 chr17 7195932 7198982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YBX2 chr17 71961028 71977793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71961028 71977793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7196205 7198984 Gain and loss Pancreatic cancer SNP array 17952125 YBX2 chr17 71974501 71987500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 71975246 71977793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71978571 72009103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71978571 72009103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 71978574 72009084 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71987323 71987399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 71987501 71997500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 7199166 7201262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7199166 7201262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7199179 7201261 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 71997501 72010000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 72001637 72001737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72009830 72009930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72010001 72034000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 72034001 72054000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 72035034 72045377 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 72035035 72045377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72035056 72045561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72035056 72045561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7203901 7208100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr17 72045741 72052050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72046731 72046855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72047715 72053053 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 72054001 72190000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 7205490 7206527 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 7206002 7206527 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr17 72065446 72068110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72065915 72066015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72066467 72066546 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72066468 72066545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72066468 72066545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72068785 72068870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72068786 72068869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72068786 72068869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72069310 72069383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72069311 72069382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72069311 72069382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72073056 72093524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72073056 72093524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72073057 72093524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72099450 72099550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72099533 72099633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 772112 788822 Gain Normal Birdsuite, version 1.5.2 22087296 LOC643837 chr17 72132440 72151327 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 72132442 72151463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72132442 72151489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72132442 72151489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72135339 72136804 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr17 7215020 7215111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF5A chr17 72157148 72157236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72159309 72159610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72163993 72164097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72163997 72164099 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72163997 72164099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72183404 72218682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGC16275,RPL38,TTYH2 chr17 72183404 72218682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGC16275,RPL38,TTYH2 chr17 72185265 72218623 Gain and loss Pancreatic cancer SNP array 17952125 MGC16275,RPL38,TTYH2 chr17 72190001 72195000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 72195001 72375000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTBD17,DNAI2,GPR142,KIF19,MGC16275,RPL38,TTYH2 chr17 72200000 78774742 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDK3,CDR2L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72200000 78774742 Gain Normal Human genome CGH 75k ARRAY PLATFORM 22144094 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,BTBD17,C17orf109,C17orf110,C17orf28,C17orf77,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,CDK3,CDR2L,CYGB,CYTH1,DNAH17,DNAI2,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FADS6,FAM100B,FBF1,FDXR,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GPR142,GPRC5C,GRB2,GRIN2C,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,KIF19,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MGC16275,MIF4GD,MIR3615,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NAT9,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RAB37,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPL38,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SLC9A3R1,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TTYH2,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72211309 72211404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTYH2 chr17 72211312 72211403 Gain and loss Pancreatic cancer SNP array 17952125 TTYH2 chr17 72220514 72234158 Gain and loss Pancreatic cancer SNP array 17952125 TTYH2 chr17 72224363 72234253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTYH2 chr17 72224363 72234253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTYH2 chr17 72226119 72234476 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TTYH2 chr1 7722321 7722421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 72234531 72241363 Gain and loss Pancreatic cancer SNP array 17952125 TTYH2 chr17 72234535 72241556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTYH2 chr17 72234535 72241556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTYH2 chr17 72234916 72245007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTYH2 chr17 72234916 72245007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTYH2 chr17 72237918 72237992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTYH2 chr17 72241791 72245007 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 TTYH2 chr17 72241791 72245007 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TTYH2 chr17 72241796 72244837 Gain and loss Pancreatic cancer SNP array 17952125 TTYH2 chr17 72244127 72244225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTYH2 chr17 72244530 72290878 Gain and loss Pancreatic cancer SNP array 17952125 DNAI2,TTYH2 chr17 72245377 72286933 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DNAI2,TTYH2 chr17 72245378 72286931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAI2,TTYH2 chr17 7225134 7233780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEURL4 chr17 7225134 7233807 Gain and loss Pancreatic cancer SNP array 17952125 NEURL4 chr17 72259256 72259356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72260589 72260690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72260589 72260692 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72260589 72260692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72291953 72292206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAI2 chr17 72295131 72301707 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DNAI2 chr17 7233777 7248142 Gain and loss Pancreatic cancer SNP array 17952125 ACAP1 chr17 7233779 7238572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7233779 7238572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 77233934 77234019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72361470 72362417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 77236644 77236744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72375001 72466500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD300A,GPRC5C chr17 72376133 72458060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPRC5C chr17 72376133 72458060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPRC5C chr17 72376393 72458062 Gain and loss Pancreatic cancer SNP array 17952125 GPRC5C chr17 72379027 72379111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72466501 72565000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD300A,CD300C,CD300LB chr17 7247038 7248142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAP1 chr17 7247038 7248142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAP1 chr17 72499116 72499434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 72506118 72506218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72517771 72517871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD300LB chr17 7252226 7263903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAP1,KCTD11,TMEM95 chr17 7252226 7263903 Gain and loss Pancreatic cancer SNP array 17952125 ACAP1,KCTD11,TMEM95 chr17 7252226 7263903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAP1,KCTD11,TMEM95 chr17 7253059 7347470 Loss Lung cancer Array CGH 21203850 ACAP1,C17orf61,C17orf61-PLSCR3,C17orf74,FGF11,KCTD11,NLGN2,PLSCR3,SPEM1,TMEM102,TMEM95,TNK1 chr17 72543839 72543939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72550200 72581765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf77,CD300LD chr17 72565001 72649500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf77,CD300E,CD300LD chr17 72588313 72588445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf77,CD300LD chr17 72589224 72589311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf77 chr17 72594892 72594979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72595896 72595996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72596984 72597170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72596984 72597170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72597581 72598658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72599496 72599619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72611114 72611249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD300E chr17 72618553 72618649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD300E chr17 72620209 72620323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72620210 72620414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 72628843 72663960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 72638503 72807003 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD300LF,MIR3615,NAT9,RAB37,SLC9A3R1,TMEM104 chr17 7264403 7267650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7264403 7267650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7264403 7267650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72648647 72722006 Gain and loss Pancreatic cancer SNP array 17952125 CD300LF,RAB37 chr17 72648647 72724770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD300LF,RAB37 chr17 72648647 72724770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD300LF,RAB37 chr17 72660206 72660351 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72660235 72660349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 72660238 72660351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72669627 72669984 Gain and loss Pancreatic cancer SNP array 17952125 RAB37 chr17 72669627 72669984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB37 chr1 77269410 77397135 Gain and loss Pancreatic cancer SNP array 17952125 ST6GALNAC5 chr17 7269659 7271608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7269659 7271608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7269659 7271608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72718001 72762500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3615,RAB37,SLC9A3R1 chr17 72718292 72731716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB37 chr17 72719984 72735763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB37 chr17 72728774 72743351 Gain Normal Birdsuite, version 1.5.2 22087296 RAB37 chr17 72740525 72759552 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR3615,RAB37,SLC9A3R1 chr17 72742829 72753221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR3615,RAB37,SLC9A3R1 chr17 72743339 72759552 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR3615,RAB37,SLC9A3R1 chr17 72747544 72747885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC9A3R1 chr17 72748545 72759552 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC9A3R1 chr17 72753655 72753709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC9A3R1 chr17 72757444 72757527 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 SLC9A3R1 chr17 72762501 72766500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC9A3R1 chr17 72766501 72794000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NAT9,TMEM104 chr17 72789086 73008273 Gain or loss Breast cancer - 20668451 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72789086 73008273 Gain or loss Cancer - 20668451 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72789086 73008273 Gain or loss Lung cancer - 20668451 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72789086 73008273 Gain or loss Ovarian cancer - 20668451 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72789086 73008273 Gain or loss Pancreas cancer - 20668451 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72789086 73008273 Gain or loss Prostate cancer - 20668451 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72789117 73008271 Gain and loss Pancreatic cancer SNP array 17952125 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72794001 72797000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM104 chr17 7279486 7281722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7279486 7281722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7279486 7281722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 72797001 72879500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FADS6,FDXR,GRIN2C,TMEM104 chr17 72800000 80800000 Loss Acute myeloid leukemia BAC Array CGH 17237825 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ARMC7,ASPSCR1,ATP5H,AZI1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf109,C17orf110,C17orf28,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CDK3,CDR2L,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FADS6,FAM100B,FAM195B,FASN,FBF1,FDXR,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GGA3,GPS1,GRB2,GRIN2C,H3F3B,HEXDC,HGS,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LINC00482,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METTL23,MFSD11,MGAT5B,MIF4GD,MIR1250,MIR3065,MIR3186,MIR338,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MRPS7,MXRA7,MYADML2,MYO15B,NARF,NOTUM,NPB,NPLOC4,NPTX1,NT5C,NUP85,OTOP2,OTOP3,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC16A5,SLC25A10,SLC25A19,SLC26A11,SLC38A10,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SUMO2,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM104,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,TSPAN10,UBE2O,UNC13D,UNK,USH1G,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 7282315 7288975 Gain or loss Breast cancer - 20668451 TNK1 chr17 7282315 7288975 Gain or loss Cancer - 20668451 TNK1 chr17 7282315 7288975 Gain or loss Lung cancer - 20668451 TNK1 chr17 7282315 7288975 Gain or loss Ovarian cancer - 20668451 TNK1 chr17 7282315 7288975 Gain or loss Pancreas cancer - 20668451 TNK1 chr17 7282315 7288975 Gain or loss Prostate cancer - 20668451 TNK1 chr17 72827197 73008273 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72827197 73008273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 72827197 73008273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G chr17 7283413 7288971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNK1 chr17 7283413 7288971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNK1 chr17 7283413 7288973 Gain and loss Pancreatic cancer SNP array 17952125 TNK1 chr17 72850005 72878858 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 FADS6,FDXR,GRIN2C chr1 7728761 7742417 Deletion Glioblastoma multiforme Array CGH 19115005 CAMTA1 chr17 72879501 73007500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf28,CDR2L,FADS6,OTOP2,OTOP3,USH1G chr17 7289130 7301656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf61-PLSCR3,PLSCR3,TNK1 chr17 7289130 7301656 Gain and loss Pancreatic cancer SNP array 17952125 C17orf61-PLSCR3,PLSCR3,TNK1 chr17 7289130 7301656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf61-PLSCR3,PLSCR3,TNK1 chr17 72900000 78774742 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Amplification Melanoma MLPA assay 21693616 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Amplification Melanoma Multiplex Ligation-Dependent Probe Amplification 21693616 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Gain Cervical cancer Array CGH 21063398 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Gain ovarian endometriomas metaphase CGH 16273235 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72900000 78774742 Lod Vascular development Affymetrix 500K arrays 21799892 AANAT,ACOX1,AFMID,ARMC7,ATP5H,BIRC5,C17orf109,C17orf110,C17orf28,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CDR2L,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ICT1,ITGB4,JMJD6,KCTD2,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100287042,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIF4GD,MIR3678,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MRPS7,MXRA7,MYO15B,NPTX1,NT5C,NUP85,OTOP2,OTOP3,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC16A5,SLC25A19,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SUMO2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USH1G,USP36,WBP2,ZACN chr17 72918959 72952439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C17orf28,OTOP2,OTOP3,USH1G chr17 72921041 72921141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTOP2 chr17 72949786 72949877 Gain and loss Pancreatic cancer SNP array 17952125 C17orf28 chr17 72949786 72949888 Gain and loss Pancreatic cancer SNP array 17952125 C17orf28 chr17 72949786 72949890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf28 chr17 72955884 72956148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf28 chr17 72956489 72956676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf28 chr17 72956670 72956750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C17orf28 chr17 72995230 72995398 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDR2L chr17 72995292 72995375 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDR2L chr17 72999486 72999536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDR2L chr17 73007501 73439500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARMC7,ATP5H,GGA3,GRB2,HN1,ICT1,KCTD2,LOC100287042,MIF4GD,MIR3678,MRPS7,NT5C,NUP85,SLC16A5,SLC25A19,SUMO2 chr17 7300940 8164226 LOH Normal High-resolution SNP genotyping 21211785 ALOX12B,ALOX15B,ALOXE3,ATP1B2,AURKB,C17orf59,C17orf61,C17orf61-PLSCR3,C17orf74,CD68,CHD3,CHRNB1,CNTROB,CTC1,CYB5D1,DNAH2,EFNB3,EIF4A1,FGF11,FXR2,GUCY2D,HES7,KCNAB3,KDM6B,LINC00324,LOC284023,LSMD1,MIR3676,MIR4314,MIR4521,MPDU1,NLGN2,PER1,PFAS,POLR2A,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM107,TMEM88,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TP53,TRAPPC1,VAMP2,WRAP53,ZBTB4 chr17 73009935 73010035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ICT1 chr17 7303408 7328292 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 C17orf61,C17orf61-PLSCR3,NLGN2,SPEM1 chr17 7303423 7328241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf61,C17orf61-PLSCR3,NLGN2,SPEM1 chr17 7303423 7328241 Gain and loss Pancreatic cancer SNP array 17952125 C17orf61,C17orf61-PLSCR3,NLGN2,SPEM1 chr17 7303423 7328241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf61,C17orf61-PLSCR3,NLGN2,SPEM1 chr17 73066401 73268800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARMC7,GGA3,HN1,LOC100287042,MIF4GD,MRPS7,NT5C,NUP85,SLC16A5,SUMO2 chr1 77306820 77307374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 73084146 74205146 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ACOX1,ARMC7,C17orf109,C17orf110,CASKIN2,CDK3,EVPL,EXOC7,FBF1,FOXJ1,GALK1,GALR2,GGA3,GRB2,H3F3B,HN1,ITGB4,KIAA0195,LLGL2,LOC100287042,MIF4GD,MIR3678,MIR4738,MRPL38,MRPS7,MYO15B,NT5C,NUP85,RECQL5,RNF157,RNF157-AS1,SAP30BP,SLC16A5,SLC25A19,SRP68,SUMO2,TEN1,TEN1-CDK3,TRIM47,TRIM65,TSEN54,UNC13D,UNK,WBP2,ZACN chr17 73093099 73128014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARMC7,NT5C,SLC16A5 chr17 73138613 73138677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HN1 chr17 73215620 73215720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUP85 chr17 73219368 73252478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GGA3,NUP85 chr1 77322225 78888377 LOH Normal High-resolution SNP genotyping 21211785 AK5,DNAJB4,FAM73A,FUBP1,GIPC2,MGC27382,NEXN,PIGK,ST6GALNAC5,USP33,ZZZ3 chr17 73239748 73239848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GGA3 chr17 73247 727854 Copy number Autism exome sequencing 22495311 C17orf97,DBIL5P,FAM101B,FAM57A,GEMIN4,GLOD4,LOC100506388,NXN,RNMTL1,RPH3AL,VPS53 chr17 7326028 7327044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 73268801 73471200 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRB2,KIAA0195,LOC100287042,MIR3678,SLC25A19 chr1 77327254 77457720 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ST6GALNAC5 chr1 77327254 77457720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST6GALNAC5 chr1 77327254 77457720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GALNAC5 chr17 7328001 7432500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf74,CHRNB1,FGF11,POLR2A,SLC35G6,TMEM102,ZBTB4 chr17 7328422 7358653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf74,CHRNB1,FGF11,TMEM102 chr17 7328422 7358653 Gain and loss Pancreatic cancer SNP array 17952125 C17orf74,CHRNB1,FGF11,TMEM102 chr17 7328422 7358653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf74,CHRNB1,FGF11,TMEM102 chr17 73314471 73314526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRB2 chr17 73357711 73358373 Amplification Medulloblastoma Illumina SNP arrays 21163964 GRB2 chr1 77337687 77337787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC5 chr17 73386704 73391764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRB2 chr17 73386704 73391764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRB2 chr17 7342366 7342461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 73427775 73427935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 73465501 73467500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0195 chr17 73482389 78774742 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AANAT,ACOX1,AFMID,BIRC5,C17orf109,C17orf110,C17orf99,C1QTNF1,CANT1,CARD14,CASKIN2,CBX2,CBX4,CBX8,CCDC40,CDK3,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,H3F3B,ITGB4,JMJD6,KIAA0195,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MXRA7,MYO15B,NPTX1,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USP36,WBP2,ZACN chr17 73499878 73500192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CASKIN2 chr17 73516500 78200000 Gain Prostate cancer Array CGH 18632612 AANAT,ACOX1,AFMID,BIRC5,C17orf109,C17orf110,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC40,CDK3,CYGB,CYTH1,DNAH17,EIF4A3,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,H3F3B,ITGB4,JMJD6,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIR4316,MIR4738,MIR4739,MIR636,MRPL38,MXRA7,MYO15B,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,TSEN54,UBE2O,UNC13D,UNK,USP36,WBP2,ZACN chr17 73545682 78599918 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AANAT,ACOX1,AFMID,BIRC5,C17orf109,C17orf110,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC40,CDK3,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,H3F3B,ITGB4,JMJD6,LGALS3BP,LINC00338,LLGL2,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MXRA7,MYO15B,NPTX1,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RECQL5,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SEPT9,SGSH,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,UBE2O,UNC13D,UNK,USP36,WBP2,ZACN chr17 73556589 73613729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LLGL2,MYO15B chr17 73556589 73613729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LLGL2,MYO15B chr17 73556589 73613925 Gain and loss Pancreatic cancer SNP array 17952125 LLGL2,MYO15B chr17 73574296 73587248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO15B chr17 73574623 73574734 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 73574624 73574725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 73606001 73618500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO15B chr17 73615080 73619475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO15B chr17 73618134 73640083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf109,MYO15B,RECQL5 chr17 73618134 73640083 Gain and loss Pancreatic cancer SNP array 17952125 C17orf109,MYO15B,RECQL5 chr17 73618134 73640083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf109,MYO15B,RECQL5 chr17 73618501 73655000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C17orf109,C17orf110,MYO15B,RECQL5 chr17 73620593 73640083 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C17orf109,MYO15B,RECQL5 chr17 73623342 73623588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RECQL5 chr17 73638453 73650644 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C17orf110,RECQL5 chr17 73638484 73650644 Gain and loss Pancreatic cancer SNP array 17952125 C17orf110,RECQL5 chr17 73638494 73650644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf110,RECQL5 chr17 73638494 73650644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf110,RECQL5 chr17 73640000 81500000 Amplification Sezary syndrome Array-based CGH 18413736 AANAT,AATK,AATK-AS1,ACOX1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf110,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CDK3,CHMP6,CSNK1D,CYGB,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,EVPL,EXOC7,FAM100B,FAM195B,FASN,FBF1,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXJ1,FOXK2,FSCN2,GAA,GALK1,GALR2,GCGR,GPS1,H3F3B,HEXDC,HGS,ITGB4,JMJD6,LGALS3BP,LINC00338,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,METTL23,MFSD11,MGAT5B,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4738,MIR4739,MIR4740,MIR636,MIR657,MRPL12,MRPL38,MXRA7,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PRCD,PRPSAP1,PYCR1,QRICH2,RAB40B,RAC3,RBFOX3,RECQL5,RFNG,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SAP30BP,SCARNA16,SEC14L1,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,STRA13,SYNGR2,TBC1D16,TBCD,TEN1,TEN1-CDK3,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TRIM47,TRIM65,TSPAN10,UBE2O,UNC13D,UNK,USP36,UTS2R,WBP2,WDR45L,ZACN,ZNF750 chr17 73654029 73673829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RECQL5,SAP30BP chr17 73654029 73673829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RECQL5,SAP30BP chr17 73654029 73673831 Gain and loss Pancreatic cancer SNP array 17952125 RECQL5,SAP30BP chr17 73655001 73677000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RECQL5,SAP30BP chr17 73661871 73661971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RECQL5 chr17 73663802 73663882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAP30BP chr1 77367387 77367941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST6GALNAC5 chr1 77367387 77367941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GALNAC5 chr17 73676266 73680604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAP30BP chr17 73676266 73680604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAP30BP chr17 73676284 73680604 Gain and loss Pancreatic cancer SNP array 17952125 SAP30BP chr17 73677001 73680500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SAP30BP chr17 73680501 73742000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITGB4,SAP30BP chr17 7368 1609966 Copy number Lung cancer paired-end sequencing 18438408 ABR,BHLHA9,C17orf97,CRK,DBIL5P,DOC2B,FAM101B,FAM57A,GEMIN4,GLOD4,INPP5K,LOC100506388,MIR3183,MYO1C,NXN,PITPNA,PITPNA-AS1,PRPF8,RILP,RNMTL1,RPH3AL,SCARF1,SLC43A2,TIMM22,TLCD2,TUSC5,VPS53,YWHAE chr17 73681755 73694909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAP30BP chr17 73681755 73694909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAP30BP chr17 73681776 73694726 Gain and loss Pancreatic cancer SNP array 17952125 SAP30BP chr17 73694993 73715377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAP30BP chr17 73694993 73715377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAP30BP chr17 73695038 73713753 Gain and loss Pancreatic cancer SNP array 17952125 SAP30BP chr17 73721871 73733311 Gain or loss Breast cancer - 20668451 ITGB4 chr17 73721871 73733311 Gain or loss Cancer - 20668451 ITGB4 chr17 73721871 73733311 Gain or loss Lung cancer - 20668451 ITGB4 chr17 73721871 73733311 Gain or loss Ovarian cancer - 20668451 ITGB4 chr17 73721871 73733311 Gain or loss Pancreas cancer - 20668451 ITGB4 chr17 73721871 73733311 Gain or loss Prostate cancer - 20668451 ITGB4 chr17 73721872 73733310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGB4 chr17 73721872 73733310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGB4 chr17 73721944 73732372 Gain and loss Pancreatic cancer SNP array 17952125 ITGB4 chr17 73729578 78599918 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AANAT,ACOX1,AFMID,BIRC5,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC40,CDK3,CYGB,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,EVPL,EXOC7,FAM100B,FBF1,FLJ45079,FOXJ1,GAA,GALK1,GALR2,H3F3B,ITGB4,JMJD6,LGALS3BP,LINC00338,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,METTL23,MFSD11,MGAT5B,MIR4316,MIR4730,MIR4738,MIR4739,MIR636,MRPL38,MXRA7,NPTX1,PGS1,PRCD,PRPSAP1,QRICH2,RBFOX3,RHBDF2,RNF157,RNF157-AS1,RNF213,RPTOR,SCARNA16,SEC14L1,SEPT9,SGSH,SLC26A11,SNHG16,SNORD1A,SNORD1B,SNORD1C,SOCS3,SPHK1,SRP68,SRSF2,ST6GALNAC1,ST6GALNAC2,SYNGR2,TBC1D16,TEN1,TEN1-CDK3,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,TRIM47,TRIM65,UBE2O,UNC13D,UNK,USP36,WBP2,ZACN chr17 73732159 73732335 Gain and loss Pancreatic cancer SNP array 17952125 ITGB4 chr17 73733446 73733547 Deletion Breast cancer Illumina 1M duo array 20393555 ITGB4 chr17 73742001 73748500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITGB4 chr17 73742271 73748662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGB4 chr17 73742271 73748662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGB4 chr17 73748501 73756000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GALK1,ITGB4 chr17 73751317 73751392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB4 chr17 73756001 73761000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GALK1 chr17 73756169 73762092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALK1 chr1 77375656 77375727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC5 chr17 73756960 73762008 Gain and loss Pancreatic cancer SNP array 17952125 GALK1 chr17 73761001 73999500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACOX1,CDK3,FBF1,GALK1,H3F3B,MIR4738,MRPL38,TEN1,TEN1-CDK3,TRIM47,TRIM65,UNC13D,UNK,WBP2 chr17 73769025 73786168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H3F3B,MIR4738,UNK chr17 73793832 73795027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UNK chr17 73794122 73794572 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 UNK chr17 7379425 7533395 Copy number loss Normal High-resolution SNP genotyping 21211785 CD68,EIF4A1,FXR2,MPDU1,POLR2A,SAT2,SENP3,SENP3-EIF4A1,SHBG,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,TNFSF12,TNFSF12-TNFSF13,TNFSF13,ZBTB4 chr17 7381137 7381237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB4 chr17 7381139 7381236 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB4 chr17 7381139 7381237 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB4 chr17 73864456 73867753 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 73864456 73867753 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 73864456 73867753 Gain or loss Cancer - 20668451 NOT_FOUND chr17 73864456 73867753 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 73864456 73867753 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 73864456 73867753 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 73864456 73867753 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 73864459 73867753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 73864459 73867753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 73864463 73867753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 73870461 73882792 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 TRIM47 chr17 73878528 73878811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 73878528 73878811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 73878530 73878811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7388352 7388435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLR2A chr17 73886325 73932232 Gain and loss Pancreatic cancer SNP array 17952125 FBF1,MRPL38,TRIM65 chr17 73886330 73932230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBF1,MRPL38,TRIM65 chr17 73886330 73932230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBF1,MRPL38,TRIM65 chr17 73889032 73889132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM65 chr17 73906963 73908180 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FBF1 chr17 73907611 73907739 Gain and loss Pancreatic cancer SNP array 17952125 FBF1 chr17 73907611 73907739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBF1 chr17 73907613 73907739 Gain and loss Pancreatic cancer SNP array 17952125 FBF1 chr17 73920599 73944841 Gain and loss Pancreatic cancer SNP array 17952125 ACOX1,FBF1 chr17 7393098 7401931 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 POLR2A chr17 7393099 7405649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLR2A chr17 7393099 7405649 Gain and loss Pancreatic cancer SNP array 17952125 POLR2A chr17 7393099 7405649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR2A chr17 73931371 74085071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOX1,CDK3,EVPL,EXOC7,FBF1,GALR2,SRP68,TEN1,TEN1-CDK3,ZACN chr17 73931371 74085071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOX1,CDK3,EVPL,EXOC7,FBF1,GALR2,SRP68,TEN1,TEN1-CDK3,ZACN chr17 73931378 74002773 Gain and loss Pancreatic cancer SNP array 17952125 ACOX1,CDK3,FBF1,TEN1,TEN1-CDK3 chr1 7739314 7739403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMTA1 chr17 73999501 74009500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDK3,EVPL,TEN1-CDK3 chr17 74003599 74008068 Gain and loss Pancreatic cancer SNP array 17952125 EVPL chr17 74009501 74474500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AANAT,EVPL,EXOC7,FAM100B,FOXJ1,GALR2,PRPSAP1,QRICH2,RHBDF2,RNF157,RNF157-AS1,SPHK1,SRP68,UBE2O,ZACN chr17 74016725 74016906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EVPL chr17 7403807 7426066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLR2A chr17 7403807 7426066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR2A chr17 74040470 74040732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRP68 chr17 74040536 74040732 Gain and loss Pancreatic cancer SNP array 17952125 SRP68 chr17 74040536 74040732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRP68 chr17 74046814 74046978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRP68 chr17 74051432 74078999 Gain and loss Pancreatic cancer SNP array 17952125 EXOC7,GALR2,SRP68,ZACN chr17 74058092 74058092 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SRP68 chr17 7406042 7416011 Gain or loss Breast cancer - 20668451 POLR2A chr17 7406042 7416011 Gain or loss Cancer - 20668451 POLR2A chr17 7406042 7416011 Gain or loss Lung cancer - 20668451 POLR2A chr17 7406042 7416011 Gain or loss Ovarian cancer - 20668451 POLR2A chr17 7406042 7416011 Gain or loss Pancreas cancer - 20668451 POLR2A chr17 7406042 7416011 Gain or loss Prostate cancer - 20668451 POLR2A chr17 7406043 7416009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLR2A chr17 7406043 7416009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR2A chr17 7406239 7415930 Gain and loss Pancreatic cancer SNP array 17952125 POLR2A chr1 7740906 7822244 Deletion Normal Standard GISTIC 21527027 CAMTA1 chr17 74106573 74106640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 74123871 74134806 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FOXJ1 chr17 7416868 7422674 Gain and loss Pancreatic cancer SNP array 17952125 POLR2A chr17 74181725 74289974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM100B,QRICH2,RNF157 chr17 74181725 74289974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM100B,QRICH2,RNF157 chr17 74181727 74289971 Gain and loss Pancreatic cancer SNP array 17952125 FAM100B,QRICH2,RNF157 chr17 7418755 7418889 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7418755 7418889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 74188636 74199664 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RNF157 chr17 74204372 74204474 Gain and loss Pancreatic cancer SNP array 17952125 RNF157 chr17 74204372 74204474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF157 chr17 7421997 7422133 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7421997 7422133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7423529 7426152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7423529 7426152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7423657 7426149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7426398 7524779 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CD68,EIF4A1,FXR2,MPDU1,SENP3,SENP3-EIF4A1,SHBG,SNORA48,SNORA67,SNORD10,SOX15,TNFSF12,TNFSF12-TNFSF13,TNFSF13 chr17 7427854 7432532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7427854 7432532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7427878 7432532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7429371 7937620 Deletion Developmental delay FISH 21056402 ATP1B2,CD68,CHD3,CNTROB,CYB5D1,DNAH2,EFNB3,EIF4A1,FXR2,GUCY2D,KCNAB3,KDM6B,LOC284023,LSMD1,MPDU1,RPL29P2,SAT2,SCARNA21,SENP3,SENP3-EIF4A1,SHBG,SNORA48,SNORA67,SNORD10,SOX15,TMEM88,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TP53,TRAPPC1,WRAP53 chr17 74295144 74348457 Gain and loss Pancreatic cancer SNP array 17952125 PRPSAP1,QRICH2 chr17 74303993 74348564 Copy number Lung cancer - 20668451 PRPSAP1 chr17 74303993 74348564 Gain or loss Breast cancer - 20668451 PRPSAP1 chr17 74303993 74348564 Gain or loss Cancer - 20668451 PRPSAP1 chr17 74303993 74348564 Gain or loss Lung cancer - 20668451 PRPSAP1 chr17 74303993 74348564 Gain or loss Ovarian cancer - 20668451 PRPSAP1 chr17 74303993 74348564 Gain or loss Pancreas cancer - 20668451 PRPSAP1 chr17 74303993 74348564 Gain or loss Prostate cancer - 20668451 PRPSAP1 chr17 74304560 74348564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPSAP1 chr17 7432222 7434212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7432222 7434212 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7432222 7434212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7432501 7434500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 77433098 77433668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GALNAC5 chr17 7434501 7545000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD68,EIF4A1,FXR2,MPDU1,SAT2,SENP3,SENP3-EIF4A1,SHBG,SNORA48,SNORA67,SNORD10,SOX15,TNFSF12,TNFSF12-TNFSF13,TNFSF13 chr17 7435271 7458796 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TNFSF12,TNFSF12-TNFSF13 chr17 7435272 7458885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFSF12,TNFSF12-TNFSF13 chr17 7435272 7458885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFSF12,TNFSF12-TNFSF13 chr17 7435872 7458894 Gain and loss Pancreatic cancer SNP array 17952125 TNFSF12,TNFSF12-TNFSF13 chr17 74360653 74433067 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 SPHK1,UBE2O chr17 74360658 74433067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPHK1,UBE2O chr17 74360658 74433067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPHK1,UBE2O chr17 74363234 74433067 Gain and loss Pancreatic cancer SNP array 17952125 SPHK1,UBE2O chr17 74364466 74364554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 74398257 74410878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBE2O chr17 74398257 74410878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2O chr17 74398315 74409505 Gain and loss Pancreatic cancer SNP array 17952125 UBE2O chr17 74407065 74407097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2O chr17 74453212 74487621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AANAT,RHBDF2 chr17 74474501 74489000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RHBDF2 chr17 74478932 74487656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHBDF2 chr17 74478932 74487656 Gain and loss Pancreatic cancer SNP array 17952125 RHBDF2 chr17 74478932 74487656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHBDF2 chr17 74489001 74588500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYGB,PRCD,RHBDF2,SNHG16,SNORD1A,SNORD1B,SNORD1C,ST6GALNAC2 chr17 7449181 7449236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 74499394 74517433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 74499394 74517455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 74499394 74517455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 74526886 74535278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYGB,PRCD chr17 74531846 74557464 Gain and loss Pancreatic cancer SNP array 17952125 CYGB,PRCD,SNHG16,SNORD1B,SNORD1C chr17 74531846 74557465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYGB,PRCD,SNHG16,SNORD1B,SNORD1C chr17 74531846 74557465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYGB,PRCD,SNHG16,SNORD1B,SNORD1C chr17 74542066 74557465 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SNHG16,SNORD1B,SNORD1C chr17 74547156 74571779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNHG16,SNORD1A,SNORD1B,SNORD1C,ST6GALNAC2 chr17 74581325 74581400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GALNAC2 chr17 74582573 74613381 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 74582614 74596276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 74582614 74596276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 74582622 74596274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 74588501 74677000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MXRA7,ST6GALNAC1 chr17 74597022 74990275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JMJD6,METTL23,MFSD11,MGAT5B,MIR636,MXRA7,SRSF2,ST6GALNAC1 chr17 74597022 74990275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JMJD6,METTL23,MFSD11,MGAT5B,MIR636,MXRA7,SRSF2,ST6GALNAC1 chr1 77459757 77737673 Gain and loss Pancreatic cancer SNP array 17952125 PIGK,ST6GALNAC5 chr17 74598498 74623434 Gain and loss Pancreatic cancer SNP array 17952125 ST6GALNAC1 chr1 77461329 77548347 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ST6GALNAC5 chr17 74637044 74637198 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ST6GALNAC1 chr17 74646369 74646369 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 77465104 77487725 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ST6GALNAC5 chr17 7465140 7465644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SENP3,SENP3-EIF4A1 chr17 7465182 7465250 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7465182 7465250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 746601 750800 Deletion Glioma mate-paired sequence 20126413 NXN chr17 746713 786483 Copy number Autism exome sequencing 22495311 NXN chr17 74677001 74723500 Copy number Normal ReadDepth: A Parallel R Package 21305028 JMJD6,METTL23,MXRA7 chr17 74679356 74679423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MXRA7 chr17 7470277 7471912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SENP3,SENP3-EIF4A1 chr17 7470277 7471912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP3,SENP3-EIF4A1 chr17 7470280 7471889 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 SENP3,SENP3-EIF4A1 chr17 7470281 7471889 Gain and loss Pancreatic cancer SNP array 17952125 SENP3,SENP3-EIF4A1 chr17 7471230 7717938 Deletion Cancer Affymetrix 250K Sty array 20164920 ATP1B2,CD68,DNAH2,EFNB3,EIF4A1,FXR2,MPDU1,RPL29P2,SAT2,SENP3,SENP3-EIF4A1,SHBG,SNORA48,SNORA67,SNORD10,SOX15,TP53,WRAP53 chr17 7472099 7477395 Gain and loss Pancreatic cancer SNP array 17952125 EIF4A1,SENP3,SENP3-EIF4A1 chr17 7472099 7477420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF4A1,SENP3,SENP3-EIF4A1 chr17 7472099 7477420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF4A1,SENP3,SENP3-EIF4A1 chr17 74723501 74731500 Copy number Normal ReadDepth: A Parallel R Package 21305028 METTL23,SRSF2 chr17 74731501 74779500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MFSD11,MIR636,SRSF2 chr17 74754345 74758626 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 MFSD11 chr17 7476822 7476899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF4A1,SENP3-EIF4A1 chr17 74779501 74786500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 74786501 74876500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MGAT5B chr17 7483027 7590358 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATP1B2,CD68,FXR2,MPDU1,SAT2,SHBG,SOX15,TP53,WRAP53 chr17 7483048 7483086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD68 chr17 74849624 78418933 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AFMID,BIRC5,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC40,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,FLJ45079,GAA,LGALS3BP,LINC00338,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,MGAT5B,MIR4316,MIR4730,MIR4739,PGS1,RBFOX3,RNF213,SCARNA16,SEC14L1,SEPT9,SGSH,SLC26A11,SOCS3,SYNGR2,TBC1D16,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,USP36 chr17 74876501 74936500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MGAT5B chr17 74936501 75422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00338,MGAT5B,MIR4316,SCARNA16,SEC14L1,SEPT9 chr17 7494979 7501812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FXR2 chr17 7494979 7501812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FXR2 chr17 7494979 7501814 Gain and loss Pancreatic cancer SNP array 17952125 FXR2 chr17 74949892 74950053 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 74963901 75318100 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00338,SCARNA16,SEC14L1,SEPT9 chr17 74970485 74970585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 74972129 74972222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 74979374 75322859 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 LINC00338,SCARNA16,SEC14L1,SEPT9 chr17 75046812 75046887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 75047370 75048961 Gain Normal 244K array 17666407 NOT_FOUND chr17 75053274 78120365 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 AFMID,BIRC5,C17orf99,C1QTNF1,CANT1,CBX2,CBX4,CBX8,CCDC40,CYTH1,DNAH17,EIF4A3,ENGASE,ENPP7,FLJ45079,GAA,LGALS3BP,LINC00338,LOC100131096,LOC100507351,LOC100507410,LOC100653515,LOC100996291,MIR4316,MIR4739,PGS1,RBFOX3,SCARNA16,SEC14L1,SEPT9,SOCS3,SYNGR2,TBC1D16,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,USP36 chr17 7505338 7506921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FXR2 chr17 7505821 7531588 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 FXR2,SAT2,SHBG chr17 7505821 7531588 Copy number Breast cancer MLPA 16551709 FXR2,SAT2,SHBG chr17 7505821 7531588 Copy number Lung cancer - 20668451 FXR2,SAT2,SHBG chr17 7505821 7531588 Copy number Prostate cancer - 21088497 FXR2,SAT2,SHBG chr17 7505821 7531588 Deletion Acute lymphoblastic leukemia real-time PCR 21505135 FXR2,SAT2,SHBG chr17 7505821 7531588 Deletioneted Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 FXR2,SAT2,SHBG chr17 7505821 7531588 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 FXR2,SAT2,SHBG chr17 7505821 7531588 Deletion Glioblastoma multiforme Illumina SNP arrays 22286061 FXR2,SAT2,SHBG chr17 7505821 7531588 Deletion Li-fraumeni syndrome - 17634833 FXR2,SAT2,SHBG chr17 7505821 7531588 Gain or loss Breast cancer - 20668451 FXR2,SAT2,SHBG chr17 7505821 7531588 Gain or loss Cancer - 20668451 FXR2,SAT2,SHBG chr17 7505821 7531588 Gain or loss Lung cancer - 20668451 FXR2,SAT2,SHBG chr17 7505821 7531588 Gain or loss Ovarian cancer - 20668451 FXR2,SAT2,SHBG chr17 7505821 7531588 Gain or loss Pancreas cancer - 20668451 FXR2,SAT2,SHBG chr17 7505821 7531588 Gain or loss Prostate cancer - 20668451 FXR2,SAT2,SHBG chr17 7505821 7531588 LOH head and neck squamous cell carcinoma Affymetrix SNP 6.0 array 21798897 FXR2,SAT2,SHBG chr17 7505821 7531588 Loss Colorectal cancer SNP arrays 22014273 FXR2,SAT2,SHBG chr17 7505821 7531588 Loss Gastric cancer FISH 21528007 FXR2,SAT2,SHBG chr17 7505821 7531588 Neutral Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 FXR2,SAT2,SHBG chr17 7511866 7520315 Deletion Cancer FISH 21056402 FXR2,SHBG chr17 7512444 7519279 Copy number Breast cancer Fluorescence in situ hybridisation 16254685 FXR2,SHBG chr17 7512444 7519279 Copy number Cholangiocarcinoma quantitative PCR 21472131 FXR2,SHBG chr17 7512444 7519279 Missense Breast cancer - 20616022 FXR2,SHBG chr17 7512445 7531642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FXR2,SAT2,SHBG chr17 7512445 7531642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FXR2,SAT2,SHBG chr17 7512464 7531642 Gain and loss Pancreatic cancer SNP array 17952125 FXR2,SAT2,SHBG chr17 7512464 7531642 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 FXR2,SAT2,SHBG chr17 7518132 7519370 Deletion Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 FXR2,SHBG chr1 77518855 77553329 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST6GALNAC5 chr1 77520250 77798238 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AK5,PIGK,ST6GALNAC5 chr1 77520250 77798238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AK5,PIGK,ST6GALNAC5 chr1 77520250 77798238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5,PIGK,ST6GALNAC5 chr17 75291024 75436783 Duplication Schizophrenia NimbleGen HD2 platform 21346763 MIR4316,SEPT9 chr17 75295670 75297379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 75300000 81195210 Deletion Colorectal cancer GISTIC software 19359472 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXK2,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAB40B,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TBCD,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R,WDR45L,ZNF750 chr17 75300000 81195210 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXK2,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAB40B,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TBCD,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R,WDR45L,ZNF750 chr17 75300000 81195210 Gain Gastric cancer Array CGH 16891809 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXK2,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAB40B,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TBCD,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R,WDR45L,ZNF750 chr17 75300000 81195210 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXK2,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAB40B,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TBCD,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R,WDR45L,ZNF750 chr17 75300000 81195210 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXK2,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAB40B,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TBCD,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R,WDR45L,ZNF750 chr17 75300000 81195210 Gain Prostate cancer FISH 18973659 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXK2,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAB40B,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TBCD,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R,WDR45L,ZNF750 chr17 75300000 81195210 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXK2,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAB40B,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TBCD,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R,WDR45L,ZNF750 chr17 75300000 81195210 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FLJ43681,FLJ45079,FN3K,FN3KRP,FOXK2,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,METRNL,MIR1250,MIR3065,MIR3186,MIR338,MIR4316,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAB40B,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SEPT9,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TBCD,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R,WDR45L,ZNF750 chr17 7530723 7547544 Gain and loss Pancreatic cancer SNP array 17952125 SAT2,SHBG chr17 75319276 75330612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 75319276 75330612 Gain and loss Pancreatic cancer SNP array 17952125 SEPT9 chr17 75319276 75330612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 7532364 7547545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHBG chr17 7532364 7547545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHBG chr17 7532698 7532698 Copy number Prostate cancer Illumina GA II sequencer 21307934 SHBG chr17 75337386 75443727 Gain Normal aCGH 21627829 MIR4316,SEPT9 chr17 75350324 78671041 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AFMID,BIRC5,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC40,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,FLJ45079,GAA,LGALS3BP,LOC100131096,LOC100294362,LOC100507351,LOC100507410,LOC100653515,LOC100996291,MIR4316,MIR4730,MIR4739,NPTX1,PGS1,RBFOX3,RNF213,RPTOR,SEPT9,SGSH,SLC26A11,SOCS3,SYNGR2,TBC1D16,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,USP36 chr17 75365893 75368981 Loss or gain Normal 244K array 17666407 SEPT9 chr17 75366588 75370926 Gain and loss Pancreatic cancer SNP array 17952125 SEPT9 chr17 75366588 75375973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 75366588 75375973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 75373200 75373436 Gain and loss Pancreatic cancer SNP array 17952125 SEPT9 chr17 75378614 75378711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEPT9 chr17 75382773 75385485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 75382773 75385485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 75382788 75385510 Gain and loss Pancreatic cancer SNP array 17952125 SEPT9 chr1 7753916 7770120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1 chr1 7753916 7770120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1 chr17 75421499 75430955 Loss Normal aCGH 21627829 SEPT9 chr17 75421551 75427808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 75421551 75427808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT9 chr17 75422001 75432000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEPT9 chr17 75422353 75427664 Gain and loss Pancreatic cancer SNP array 17952125 SEPT9 chr17 75432001 75506000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEPT9 chr17 7545001 7553500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 75466708 75466741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEPT9 chr1 77547448 77552340 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr17 7549245 7555414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP1B2 chr17 7549245 7555414 Gain and loss Pancreatic cancer SNP array 17952125 ATP1B2 chr17 7549245 7555414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP1B2 chr17 75506001 75543500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100507351 chr17 75513785 75624242 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507351 chr17 75525146 75525587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 75525146 75525587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75528413 75624242 Copy number Melanoma CONEXIC algorithm 21949216 LOC100507351 chr17 75528416 75624242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507351 chr17 75528416 75624242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507351 chr17 7553501 7677000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP1B2,DNAH2,EFNB3,RPL29P2,TP53,WRAP53 chr17 75543501 75693000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100507351 chr17 75567863 75567926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 75605224 75605313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 75606608 75615442 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 7561397 7587943 Gain and loss Pancreatic cancer SNP array 17952125 TP53 chr17 75618100 75618200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 75625029 75689007 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 75625030 75689007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75625046 75688998 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7562746 7677783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH2,EFNB3,RPL29P2,TP53,WRAP53 chr17 7562746 7677783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH2,EFNB3,RPL29P2,TP53,WRAP53 chr17 75650000 77450000 Amplification Breast cancer aCGH 21509527 AFMID,BIRC5,C17orf99,C1QTNF1,CANT1,CYTH1,DNAH17,ENGASE,FLJ45079,LGALS3BP,LOC100131096,LOC100507410,LOC100653515,LOC100996291,PGS1,RBFOX3,SOCS3,SYNGR2,TIMP2,TK1,TMC6,TMC8,TMEM235,TNRC6C,USP36 chr17 7565096 7590863 Copy number Breast cancer Qiagen RNeasy Mini Kit 21633010 TP53,WRAP53 chr17 7565096 7590863 Copy number Cancer TaqMan Universal Master Mix Real-Time Genomic Quantitative PCR 20884963 TP53,WRAP53 chr17 75689877 75708273 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 75689950 75708273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75689950 75708273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75693001 75702000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 75705001 75708000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 75708001 75713000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 75713072 75726472 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 7571719 7590863 Loss Bladder cancer Affymetrix GeneChip Mapping 10K 2.0 19088036 TP53,WRAP53 chr17 7571720 7590863 Copy number Li-fraumeni syndrome Affymetrix GeneChip 250K Nsp microarray 18685109 TP53,WRAP53 chr17 75723614 75735533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75723614 75735533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 75723614 75735533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75735001 75736500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 75736501 75770500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 75758036 75787601 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 75766869 75797450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75766869 75797450 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 75766869 75797450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75770501 75853500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 75773014 75773187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 75776193 75787318 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 75797674 75808794 Copy number Autism exome sequencing 22495311 NOT_FOUND chr17 75797685 75808719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75797685 75808719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 75797685 75808719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75805981 75806033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 75808824 75841890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75808824 75841890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75808824 75841892 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 75827388 75827457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 75838412 75932037 Gain Normal Birdsuite, version 1.5.2 22087296 FLJ45079 chr17 75849261 75925295 Gain or loss Breast cancer - 20668451 FLJ45079 chr17 75849261 75925295 Gain or loss Cancer - 20668451 FLJ45079 chr17 75849261 75925295 Gain or loss Lung cancer - 20668451 FLJ45079 chr17 75849261 75925295 Gain or loss Ovarian cancer - 20668451 FLJ45079 chr17 75849261 75925295 Gain or loss Pancreas cancer - 20668451 FLJ45079 chr17 75849261 75925295 Gain or loss Prostate cancer - 20668451 FLJ45079 chr17 75849262 75909853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ45079 chr17 75849262 75909853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ45079 chr17 75849264 75925295 Gain and loss Pancreatic cancer SNP array 17952125 FLJ45079 chr17 75853501 75902500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ45079 chr17 75878397 75878482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ45079 chr17 75880038 75880231 Gain Autism 1M Ailent CGH whole-genome array 21865298 FLJ45079 chr17 75881441 75881536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 75885403 75885473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 75892709 75937915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 75902501 75904000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 7590358 8066706 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ALOX12B,ALOX15B,ALOXE3,CHD3,CNTROB,CYB5D1,DNAH2,EFNB3,GUCY2D,HES7,KCNAB3,KDM6B,LOC284023,LSMD1,MIR4314,PER1,RPL29P2,SCARNA21,TMEM88,TP53,TRAPPC1,VAMP2,WRAP53 chr17 75904001 76003000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TNRC6C chr17 75928307 75928870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 75928320 75984673 Copy number Lung cancer - 20668451 NOT_FOUND chr17 75928320 75984673 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 75928320 75984673 Gain or loss Cancer - 20668451 NOT_FOUND chr17 75928320 75984673 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 75928320 75984673 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 75928320 75984673 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 75928320 75984673 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 75928321 75984680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75928321 75984680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 75935790 75984656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 75940227 76003563 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TNRC6C chr17 75940934 76003513 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6C chr1 77598032 77598092 Gain and loss Pancreatic cancer SNP array 17952125 PIGK chr17 75982582 75982614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 7598363 7599007 Gain and loss Pancreatic cancer SNP array 17952125 WRAP53 chr17 7598430 7598896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WRAP53 chr17 7598430 7598896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WRAP53 chr17 75993754 80470659 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 AATK,AATK-AS1,ACTG1,AFMID,ALYREF,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,BAHCC1,BAIAP2,BAIAP2-AS1,BIRC5,C17orf101,C17orf62,C17orf70,C17orf89,C17orf99,C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC137,CCDC40,CCDC57,CD7,CHMP6,CSNK1D,CYTH1,DCXR,DNAH17,DUS1L,EIF4A3,ENDOV,ENGASE,ENPP7,ENTHD2,FAM195B,FASN,FSCN2,GAA,GCGR,GPS1,HEXDC,HGS,LGALS3BP,LINC00482,LOC100131096,LOC100294362,LOC100507410,LOC100653515,LOC100996291,LRRC45,MAFG,MAFG-AS1,MIR1250,MIR3065,MIR3186,MIR338,MIR4730,MIR4739,MIR4740,MIR657,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,NPTX1,OXLD1,P4HB,PCYT2,PDE6G,PGS1,PPP1R27,PYCR1,RAC3,RBFOX3,RFNG,RNF213,RPTOR,SECTM1,SGSH,SIRT7,SLC16A3,SLC25A10,SLC26A11,SLC38A10,SOCS3,STRA13,SYNGR2,TBC1D16,TEX19,TIMP2,TK1,TMC6,TMC8,TMEM105,TMEM235,TNRC6C,TSPAN10,USP36,UTS2R chr1 776000 10536000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,APITD1,APITD1-CORT,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf200,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CLSTN1,CORT,CPSF3L,CTNNBIP1,DFFA,DFFB,DNAJC11,DVL1,ENO1,ENO1-AS1,ERRFI1,ESPN,FAM132A,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KIF1B,KLHL17,KLHL21,LOC100129534,LOC100130417,LOC100133445,LOC100133612,LOC115110,LOC148413,LOC254099,LOC284661,LOC643837,LOC728716,LRRC47,LZIC,MEGF6,MIB2,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NMNAT1,NOC2L,NOL9,NPHP4,PANK4,PARK7,PER3,PEX10,PEX14,PGD,PHF13,PIK3CD,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RBP7,RER1,RERE,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC25A33,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SPSB1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM201,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UBE4B,UTS2,VAMP3,VWA1,WRAP73,ZBTB48 chr17 76003001 76004500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TNRC6C chr17 76003562 76026476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6C chr17 76003562 76026476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6C chr17 76003562 76036613 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6C chr17 76003579 76024593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6C chr17 76004501 76009500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TNRC6C chr17 76009501 76071500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TNRC6C chr17 76039670 76039770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNRC6C chr17 76043953 76093789 Amplification or deletion Cancer Array CGH 17440070 TNRC6C chr17 76045966 76046060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNRC6C chr17 7604787 7631778 Gain and loss Pancreatic cancer SNP array 17952125 DNAH2,EFNB3,WRAP53 chr17 76055228 76064999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6C chr17 76055228 76064999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6C chr17 76055543 76064999 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6C chr17 76056108 76114222 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC100131096,TMC6,TNRC6C chr17 76071501 76116000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131096,TMC6,TNRC6C chr17 76074801 76079700 Deletion Glioma mate-paired sequence 20126413 TNRC6C chr1 77608646 77608746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIGK chr17 76116001 76336500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AFMID,BIRC5,C17orf99,LOC100996291,SYNGR2,TK1,TMC6,TMC8,TMEM235 chr17 76130598 76131000 Gain and loss Pancreatic cancer SNP array 17952125 TMC8 chr17 76130598 76131000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC8 chr17 76133220 76554768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AFMID,BIRC5,C17orf99,DNAH17,LOC100996291,PGS1,SOCS3,SYNGR2,TK1,TMC8,TMEM235 chr17 76133220 76554768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFMID,BIRC5,C17orf99,DNAH17,LOC100996291,PGS1,SOCS3,SYNGR2,TK1,TMC8,TMEM235 chr17 76133663 76554766 Gain and loss Pancreatic cancer SNP array 17952125 AFMID,BIRC5,C17orf99,DNAH17,LOC100996291,PGS1,SOCS3,SYNGR2,TK1,TMC8,TMEM235 chr17 76165741 76165812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNGR2 chr17 76189246 76189312 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AFMID chr17 76189932 76190858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AFMID chr17 76189941 76190867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AFMID chr17 76190944 76191321 Gain and loss Pancreatic cancer SNP array 17952125 AFMID chr17 76190944 76191321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFMID chr17 76218796 76226319 Gain Normal Birdsuite, version 1.5.2 22087296 BIRC5 chr1 77621914 77621997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIGK chr17 76270001 76270208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100996291 chr17 76279661 76279725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 76288768 76288791 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr1 77629695 77629801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGK chr17 76310141 76321112 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr17 76312745 76312845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 76323766 76362867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SOCS3 chr17 76332091 76332288 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr17 76336501 76338000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 76338001 76403500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PGS1,SOCS3 chr17 76347119 76347339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 76347241 76347331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 76353266 76353336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOCS3 chr17 76403501 76536500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH17,PGS1 chr17 764134 764268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NXN chr17 7641737 7677576 Gain and loss Pancreatic cancer SNP array 17952125 DNAH2,RPL29P2 chr17 76426304 78774742 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC40,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,GAA,LGALS3BP,LOC100294362,LOC100507410,LOC100653515,MIR4730,MIR4739,NPTX1,RBFOX3,RNF213,RPTOR,SGSH,SLC26A11,TBC1D16,TIMP2,USP36 chr17 76426304 78774742 Copy number gain Normal High-resolution SNP genotyping 21211785 C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC40,CYTH1,DNAH17,EIF4A3,ENDOV,ENGASE,ENPP7,GAA,LGALS3BP,LOC100294362,LOC100507410,LOC100653515,MIR4730,MIR4739,NPTX1,RBFOX3,RNF213,RPTOR,SGSH,SLC26A11,TBC1D16,TIMP2,USP36 chr17 76446490 76446590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH17 chr17 76449280 76449983 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DNAH17 chr17 76449280 76449983 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 DNAH17 chr17 76449282 76449942 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH17 chr17 76452687 76452687 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DNAH17 chr17 76472990 76473090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH17 chr17 76478295 76478370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH17 chr17 76506809 76506943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH17 chr17 76527661 76629725 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 DNAH17 chr17 76536501 76561000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH17 chr17 76549140 76549226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH17 chr1 7765595 7786465 Gain and loss Pancreatic cancer SNP array 17952125 CAMTA1 chr17 76561001 76625500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH17 chr17 76580235 76588528 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr17 76580286 76588527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 76580290 76588527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 76580290 76588527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 76591730 76593464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 76591730 76593464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 76592542 76592603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 76592776 76606136 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 76617528 76622968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 76617528 76622968 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 76617528 76622968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 76623546 76705827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYTH1 chr17 76623546 76705827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH1 chr17 76623557 76705827 Gain and loss Pancreatic cancer SNP array 17952125 CYTH1 chr17 76625501 76666000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 76626000 76861000 Gain Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 CYTH1,TIMP2,USP36 chr17 76641971 76674840 Loss Autism 1M Ailent CGH whole-genome array 21865298 CYTH1 chr17 76666001 76726000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYTH1 chr1 7766967 7827824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1 chr1 7766967 7827824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1 chr17 76700600 76701094 Gain and loss Pancreatic cancer SNP array 17952125 CYTH1 chr17 76705690 76754467 Copy number Lung cancer - 20668451 CYTH1 chr17 76705690 76754467 Gain or loss Breast cancer - 20668451 CYTH1 chr17 76705690 76754467 Gain or loss Cancer - 20668451 CYTH1 chr17 76705690 76754467 Gain or loss Lung cancer - 20668451 CYTH1 chr17 76705690 76754467 Gain or loss Ovarian cancer - 20668451 CYTH1 chr17 76705690 76754467 Gain or loss Pancreas cancer - 20668451 CYTH1 chr17 76705690 76754467 Gain or loss Prostate cancer - 20668451 CYTH1 chr17 76705703 76720341 Gain and loss Pancreatic cancer SNP array 17952125 CYTH1 chr17 76705703 76754467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYTH1 chr17 76705703 76754467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH1 chr17 76713671 76713768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH1 chr17 76714278 76714344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH1 chr17 76721591 76721703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH1 chr17 76726001 76789000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYTH1 chr17 76729346 76729434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYTH1 chr17 76731051 76731151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYTH1 chr17 76731845 76731915 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYTH1 chr17 76732562 76733239 Gain and loss Pancreatic cancer SNP array 17952125 CYTH1 chr17 76741026 76933757 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CYTH1,LOC100653515,TIMP2,USP36 chr17 76741026 76933757 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CYTH1,LOC100653515,TIMP2,USP36 chr17 76742917 76743240 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYTH1 chr17 76744458 76744659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYTH1 chr17 76753902 76771559 Gain and loss Pancreatic cancer SNP array 17952125 CYTH1 chr17 7677001 7685500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH2 chr17 76777987 76811346 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CYTH1,USP36 chr17 76777988 76811346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYTH1,USP36 chr17 76777988 76811346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH1,USP36 chr17 76777991 76811394 Gain and loss Pancreatic cancer SNP array 17952125 CYTH1,USP36 chr17 76789001 76995000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CANT1,LGALS3BP,LOC100653515,TIMP2,USP36 chr17 76789114 76789214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 76800000 77800000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 C1QTNF1,CANT1,CBX2,CBX8,ENGASE,ENPP7,LGALS3BP,LOC100507410,LOC100653515,MIR4739,RBFOX3,TIMP2,USP36 chr17 76816673 76827450 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 USP36 chr17 76816674 76827450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP36 chr17 76816674 76827450 Gain and loss Pancreatic cancer SNP array 17952125 USP36 chr17 76816674 76827450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP36 chr17 76826476 76848026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USP36 chr17 76833396 76883691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIMP2,USP36 chr17 76833396 76883691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIMP2,USP36 chr17 76833400 76836030 Gain and loss Pancreatic cancer SNP array 17952125 USP36 chr17 7683947 7698831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr17 7683947 7698831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr17 76839592 76883662 Gain and loss Pancreatic cancer SNP array 17952125 TIMP2 chr17 7683959 7698843 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 DNAH2 chr17 76839621 76839682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 76839629 76839689 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr17 76839752 76839852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 76844777 76870479 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TIMP2 chr17 7685501 7703000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH2 chr17 76856636 76856732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TIMP2 chr17 76891218 76897643 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LOC100653515,TIMP2 chr17 76891219 76897643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100653515,TIMP2 chr17 76891219 76897643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100653515,TIMP2 chr17 76892965 76893756 Gain and loss Pancreatic cancer SNP array 17952125 LOC100653515,TIMP2 chr17 7689592 7698831 Gain and loss Pancreatic cancer SNP array 17952125 DNAH2 chr17 76899669 76919069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIMP2 chr17 76899669 76919069 Gain and loss Pancreatic cancer SNP array 17952125 TIMP2 chr17 76899669 76919069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIMP2 chr17 76951018 78569870 Deletion Breast cancer FISH 17142309 C1QTNF1,CANT1,CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENDOV,ENGASE,ENPP7,GAA,LGALS3BP,LOC100294362,LOC100507410,MIR4730,MIR4739,NPTX1,RBFOX3,RNF213,RPTOR,SGSH,SLC26A11,TBC1D16 chr17 76953064 77782267 Gain Autism qPCR, Affy 500K(Marshall et al.2008), Agilent 1M, FISH 20531469 C1QTNF1,CANT1,CBX2,CBX8,ENGASE,ENPP7,LGALS3BP,LOC100507410,MIR4739,RBFOX3 chr17 7696440 7696493 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH2 chr17 76967529 76968230 Gain and loss Pancreatic cancer SNP array 17952125 LGALS3BP chr17 76967909 76968217 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 LGALS3BP chr17 76986304 76987009 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 76987561 77047953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF1,CANT1,LOC100507410 chr17 7699101 7700142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr17 7699101 7700142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr17 7699108 7700140 Gain and loss Pancreatic cancer SNP array 17952125 DNAH2 chr17 7699108 7700142 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 DNAH2 chr17 76995001 77066000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1QTNF1,CANT1,LOC100507410 chr17 77000524 77027861 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF1,CANT1,LOC100507410 chr17 77000543 77019553 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF1,CANT1,LOC100507410 chr17 77000715 77015721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CANT1,LOC100507410 chr17 77004390 77005054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CANT1 chr17 77005772 77015450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CANT1,LOC100507410 chr17 7700730 7701897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr17 7700730 7701897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr17 7700730 7701934 Gain and loss Pancreatic cancer SNP array 17952125 DNAH2 chr17 77008291 77015793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100507410 chr17 77008816 77015922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100507410 chr17 77009262 77023358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C1QTNF1,LOC100507410 chr17 77010871 77014982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 7702038 7721124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr17 7702038 7721124 Gain and loss Pancreatic cancer SNP array 17952125 DNAH2 chr17 7702038 7721124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr1 77702525 77748300 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AK5 chr17 77025447 77047952 Gain and loss Pancreatic cancer SNP array 17952125 C1QTNF1 chr17 7703001 7859500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHD3,CNTROB,CYB5D1,DNAH2,KCNAB3,KDM6B,LOC284023,LSMD1,SCARNA21,TMEM88,TRAPPC1 chr17 77066001 77092500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENGASE,RBFOX3 chr17 77069998 77070052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 77078914 77078964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENGASE chr17 77085080 77086066 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX3 chr17 77091594 77094422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77091594 77094422 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77091594 77094422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77092501 77137000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77106274 77106374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX3 chr17 77109841 77143492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBFOX3 chr17 77110153 77114582 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77110153 77114631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77110153 77114631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77117388 77129844 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77117388 77129848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77117388 77129848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 7711861 7717756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH2 chr17 77127964 77128064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX3 chr17 77134359 77226781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77134359 77226781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77134363 77207236 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77137001 77218500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77150953 77151063 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77150953 77151065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77152401 78224762 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENPP7,GAA,MIR4739,RBFOX3,SGSH,SLC26A11,TBC1D16 chr17 77152401 78224762 Copy number gain Normal High-resolution SNP genotyping 21211785 CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENPP7,GAA,MIR4739,RBFOX3,SGSH,SLC26A11,TBC1D16 chr17 77188123 77188445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX3 chr17 77197743 77197823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX3 chr17 77207851 77207938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX3 chr17 77218501 77284500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77219754 77225729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77219765 77226190 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77219767 77226183 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77220757 77221071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX3 chr17 77222447 78224762 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENPP7,GAA,MIR4739,RBFOX3,SGSH,SLC26A11,TBC1D16 chr17 77222447 78224762 Copy number gain Normal High-resolution SNP genotyping 21211785 CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENPP7,GAA,MIR4739,RBFOX3,SGSH,SLC26A11,TBC1D16 chr17 77227655 77233971 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77227655 77233971 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77227894 77234038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77227894 77234038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77236301 78774742 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1094K arrays 21546498 CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENDOV,ENPP7,GAA,LOC100294362,MIR4730,MIR4739,NPTX1,RBFOX3,RNF213,RPTOR,SGSH,SLC26A11,TBC1D16 chr17 77239346 77239446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX3 chr17 77242472 77244023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77242472 77244023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77242726 77250824 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77244165 77251341 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RBFOX3 chr17 77244182 77250819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77244182 77250819 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77244182 77250819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77245000 77379182 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RBFOX3 chr17 77256301 77467578 Duplication Normal Affymetrix 6.0 microarrays 20967226 RBFOX3 chr17 77258610 77261260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77258610 77261260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77261425 77279548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77261425 77279548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77261425 77279550 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77261425 77279553 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77280812 77284951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77280812 77284951 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77280812 77284951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77280812 77284953 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77284501 77295500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 7728849 7756803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH2,KDM6B chr17 7728849 7756803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH2,KDM6B chr17 77289742 77298446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77289742 77298446 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77289742 77298446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77289776 77298447 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77295501 77416500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77300812 77300912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX3 chr17 7732834 7756246 Gain and loss Pancreatic cancer SNP array 17952125 DNAH2,KDM6B chr17 77330519 77330618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX3 chr17 77367401 77519200 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 7738386 7738465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 77384657 77386215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77384657 77386215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77384894 77386215 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77385789 78462808 Gain Oral cancer 105K CGH oligonucleotide array 21386901 CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENDOV,ENPP7,GAA,LOC100294362,MIR4730,MIR4739,NPTX1,RBFOX3,RNF213,SGSH,SLC26A11,TBC1D16 chr17 77394322 77411833 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RBFOX3 chr17 77394323 77411833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77394326 77411680 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77394326 77411680 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77398046 77398101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX3 chr17 77416501 77422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77418887 77422527 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77418887 77422527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77418887 77422527 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77418887 77422527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77422001 77423500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr1 77742212 77860364 Gain and loss Pancreatic cancer SNP array 17952125 AK5 chr17 77422720 77442707 Loss or gain Normal 244K array 17666407 RBFOX3 chr17 77436001 77444500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77439016 77442750 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77439016 77442760 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77439017 77442758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77442707 77478923 Loss Normal 244K array 17666407 RBFOX3 chr17 77442895 77451655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77442895 77451655 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77442895 77451655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77442940 77451422 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77444501 77450000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77450001 77454500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77453364 77453975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77453417 77453940 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77453446 77453916 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77454501 77461000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77455384 77462586 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77455384 77462586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77455384 77462586 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77455384 77462586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77461001 77475000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77463107 77469332 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77463107 77469332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77463107 77469332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77463107 77488259 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77469438 77474382 Amplification T-cell lymphomas Array-CGH 22341440 RBFOX3 chr17 77469439 77474701 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX3 chr17 77469441 77478879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77469441 77478879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX3 chr17 77475001 77488000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBFOX3 chr17 77478923 77503400 Loss Normal 244K array 17666407 NOT_FOUND chr17 77478995 77481919 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 77483560 77488259 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77483560 77488463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77483560 77488463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77488001 77555500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77490812 77498400 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 77490812 77498400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77490812 77498400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77491066 77493546 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77491066 77493546 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7750165 7750303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM6B chr17 77503678 77512353 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77503678 77512459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77503678 77512459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77503689 77512353 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77516824 77516994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77528714 77568571 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 77528714 77568571 Gain or loss Cancer - 20668451 NOT_FOUND chr17 77528714 77568571 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 77528714 77568571 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 77528714 77568571 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 77528714 77568571 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 77528715 77568569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77528715 77568569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77528715 77568569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77528715 77568571 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77540129 77540228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 77540928 77540982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 77555501 77561000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77561001 77567500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77567501 77582000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77569868 77574083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77569868 77574083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77569869 77574043 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77569869 77574043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7757383 7759985 Gain and loss Pancreatic cancer SNP array 17952125 KDM6B,TMEM88 chr17 77574569 77582313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77574569 77582313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77574569 77582315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77574569 77582316 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77582001 77600000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77582821 77585366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77582821 77585366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77582821 77585368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77582821 77585369 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77587046 77588862 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77587046 77588862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77587046 77588862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77587046 77588862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7758929 7759979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM88 chr17 77599066 77602939 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 77599066 77602939 Gain or loss Cancer - 20668451 NOT_FOUND chr17 77599066 77602939 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 77599066 77602939 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 77599066 77602939 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 77599066 77602939 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 77599067 77602939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77599067 77602939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77599071 77602931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77600001 77617500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77603052 77608635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77603052 77608635 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77603052 77608635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77609037 77616969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77609041 77616969 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77609043 77629242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77609043 77629242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77627501 77630000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77629502 77649395 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 77629503 77649395 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77629504 77649395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77629504 77649395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77629504 77649395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77630001 77659500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77633050 77633107 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr17 77648151 78774742 Substitutions and indels small cell lung cancer array-CGH 20016488 CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENDOV,ENPP7,GAA,LOC100294362,MIR4730,MIR4739,NPTX1,RNF213,RPTOR,SGSH,SLC26A11,TBC1D16 chr1 77764824 77764995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AK5 chr17 77652635 77763978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBX2,ENPP7,MIR4739 chr17 77652635 77763978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX2,ENPP7,MIR4739 chr17 77659501 77700500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4739 chr17 77663157 77702778 Gain and loss Pancreatic cancer SNP array 17952125 MIR4739 chr17 7766752 7773478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7766752 7773478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7766752 7773478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77672112 78774742 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1098K arrays 21546498 CARD14,CBX2,CBX4,CBX8,CCDC40,EIF4A3,ENDOV,ENPP7,GAA,LOC100294362,MIR4730,MIR4739,NPTX1,RNF213,RPTOR,SGSH,SLC26A11,TBC1D16 chr17 77680497 77689837 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MIR4739 chr17 77683258 77684570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 77692828 77692937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77692828 77692937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77700501 77708500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENPP7 chr17 77701782 77775987 Gain and loss Pancreatic cancer SNP array 17952125 CBX2,CBX8,ENPP7 chr17 77704775 77753109 Gain and loss Pancreatic cancer SNP array 17952125 CBX2,ENPP7 chr17 77708501 77764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBX2,ENPP7 chr17 77708613 77763978 Amplification T-cell lymphomas Array-CGH 22341440 CBX2,ENPP7 chr17 7772305 7791352 Amplification or deletion Cancer Array CGH 17440070 CHD3 chr17 7774392 7775988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7774392 7775988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 7774392 7775988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77750535 77750635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 77751031 77751091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 77755881 77849251 Gain aortic dissecting aneurysms Array-CGH 22263138 CBX2,CBX4,CBX8 chr17 77755881 77849251 Gain Stenocardia MACArray Karyo 84K BAC-chips 21860640 CBX2,CBX4,CBX8 chr17 77755881 77849251 Gain Vasospasm MACArray Karyo 84K BAC-chips 21860640 CBX2,CBX4,CBX8 chr17 77760278 77802222 Gain Autism qPCR 20531469 CBX2,CBX8 chr17 7776198 7793620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHD3 chr17 7776198 7793620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD3 chr17 7776262 7793620 Gain and loss Pancreatic cancer SNP array 17952125 CHD3 chr17 77763457 77790137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CBX8 chr17 77764501 77793500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBX8 chr17 77778800 77778850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 77779582 77790658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77779582 77790658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77780236 77790637 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr17 77783432 77790658 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 77784852 77790643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77785939 77849717 Loss Autism qPCR, Agilent 1M 20531469 CBX4 chr17 77790940 77824862 Gain or loss Breast cancer - 20668451 CBX4 chr17 77790940 77824862 Gain or loss Cancer - 20668451 CBX4 chr17 77790940 77824862 Gain or loss Lung cancer - 20668451 CBX4 chr17 77790940 77824862 Gain or loss Ovarian cancer - 20668451 CBX4 chr17 77790940 77824862 Gain or loss Pancreas cancer - 20668451 CBX4 chr17 77790940 77824862 Gain or loss Prostate cancer - 20668451 CBX4 chr17 77793501 77832000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBX4 chr17 77795531 77824862 Amplification T-cell lymphomas Array-CGH 22341440 CBX4 chr17 77795535 77824862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBX4 chr17 77795535 77824862 Gain and loss Pancreatic cancer SNP array 17952125 CBX4 chr17 77795535 77824862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX4 chr17 77800232 77802992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77802344 77802831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77809862 77809962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBX4 chr17 77832001 77835000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77835001 77849000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77849001 77857000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77857001 77865000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77865001 77884500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 77866035 77868741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77866035 77868769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77866035 77868769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77869483 77870698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77870391 77871096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77872188 77885210 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr17 77872189 77884930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 77872189 77885210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77872189 77885210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 77884501 77949500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D16 chr17 77884915 77884989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7778980 7839502 Gain and loss Pancreatic cancer SNP array 17952125 CAMTA1,VAMP3 chr17 77910411 77914934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77910411 77914934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77910416 77914941 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D16 chr17 77912434 77912503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 77925490 77926659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77925490 77926659 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D16 chr17 77925490 77926659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr1 77792575 77792646 Gain and loss Pancreatic cancer SNP array 17952125 AK5 chr17 77943389 77969751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77943389 77969751 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D16 chr17 77943389 77969751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77949294 77949358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D16 chr17 77949501 77985000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D16 chr17 77963484 77963603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D16 chr17 77968391 77968484 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D16 chr17 77968391 77968486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77968392 77968483 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D16 chr17 77969541 77993804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77969541 77993804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77970912 77993804 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D16 chr17 7797163 8039908 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ALOX12B,ALOX15B,ALOXE3,CHD3,CNTROB,GUCY2D,HES7,KCNAB3,LOC284023,MIR4314,SCARNA21,TRAPPC1 chr17 77985001 77998000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D16 chr17 77990056 78001983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77990056 78001983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D16 chr17 77993808 78001994 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D16 chr17 77998001 78410000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CARD14,CCDC40,EIF4A3,ENDOV,GAA,LOC100294362,MIR4730,RNF213,SGSH,SLC26A11,TBC1D16 chr17 78009349 78039430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC40,TBC1D16 chr17 78009349 78039430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC40,TBC1D16 chr17 78009861 78039430 Gain and loss Pancreatic cancer SNP array 17952125 CCDC40 chr17 78013413 78013506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC40 chr1 77802779 77921692 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AK5 chr1 77802779 77921692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr1 77802779 77921692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr17 78055895 78055975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC40 chr17 78056183 78056283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC40 chr17 78070883 78153743 Gain and loss Pancreatic cancer SNP array 17952125 CARD14,CCDC40,EIF4A3,GAA chr17 78070883 78155772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARD14,CCDC40,EIF4A3,GAA chr17 78070883 78155772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARD14,CCDC40,EIF4A3,GAA chr17 78074138 78074401 Gain and loss Pancreatic cancer SNP array 17952125 CCDC40 chr17 78087533 78774742 Deletion Cancer Affymetrix 250K Sty array 20164920 CARD14,EIF4A3,ENDOV,GAA,LOC100294362,MIR4730,NPTX1,RNF213,RPTOR,SGSH,SLC26A11 chr17 78103020 78625264 LOH Normal High-resolution SNP genotyping 21211785 CARD14,EIF4A3,ENDOV,LOC100294362,MIR4730,NPTX1,RNF213,RPTOR,SGSH,SLC26A11 chr17 78111090 78145521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CARD14,EIF4A3 chr17 78122582 78153104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CARD14 chr17 78124988 78138101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 78130128 78142489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 78130423 78143760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr17 78134190 78145778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CARD14 chr17 78154719 78155016 Gain and loss Pancreatic cancer SNP array 17952125 CARD14 chr17 78154719 78155016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARD14 chr17 78165349 78165420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CARD14 chr17 78165459 78165566 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CARD14 chr17 78165742 78199512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARD14,SGSH,SLC26A11 chr17 78165742 78199512 Gain and loss Pancreatic cancer SNP array 17952125 CARD14,SGSH,SLC26A11 chr17 78165742 78199512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARD14,SGSH,SLC26A11 chr17 7816821 7817821 Loss Osteosarcoma References 21215367 LOC284023 chr17 78208238 78249802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF213,SLC26A11 chr17 78209004 78774742 LOH Normal High-resolution SNP genotyping 21211785 ENDOV,LOC100294362,MIR4730,NPTX1,RNF213,RPTOR,SLC26A11 chr17 78222700 78223511 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 SLC26A11 chr1 77823030 77823324 Gain and loss Pancreatic cancer SNP array 17952125 AK5 chr17 78243159 78243373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF213 chr17 78251628 78599918 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ENDOV,LOC100294362,MIR4730,NPTX1,RNF213,RPTOR chr17 78267895 78279142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF213 chr17 78267895 78279142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF213 chr17 78282044 78282154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF213 chr17 78286797 78302362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF213 chr17 78286797 78302362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF213 chr17 78303229 78507980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENDOV,LOC100294362,MIR4730,NPTX1,RNF213 chr17 78303229 78507980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENDOV,LOC100294362,MIR4730,NPTX1,RNF213 chr17 78322502 78322570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF213 chr17 78339493 78372274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100294362,RNF213 chr17 78352686 78353676 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100294362,RNF213 chr17 7835375 7836375 Gain Osteosarcoma References 21215367 CNTROB chr17 78355548 78355640 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 LOC100294362,RNF213 chr17 78369332 78599918 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ENDOV,LOC100294362,MIR4730,NPTX1,RNF213,RPTOR chr17 78374805 78404725 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ENDOV,LOC100294362,MIR4730 chr17 78379018 78379848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100294362 chr17 7837951 7838051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTROB chr17 78380600 78391220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENDOV,LOC100294362 chr17 78380600 78391220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENDOV,LOC100294362 chr17 78389072 78418789 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ENDOV,MIR4730 chr17 7840088 7840179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTROB chr17 78406477 78406577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENDOV chr17 78410001 78525000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENDOV,NPTX1,RPTOR chr17 78432676 78562724 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 NPTX1,RPTOR chr17 78432676 78562724 Gain Stenocardia MACArray Karyo 83K BAC-chips 21860640 NPTX1,RPTOR chr17 78432676 78562724 Gain Vasospasm MACArray Karyo 83K BAC-chips 21860640 NPTX1,RPTOR chr17 78443021 78443121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPTX1 chr17 78447501 78447541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPTX1 chr17 78449950 78450037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPTX1 chr17 78457146 78605474 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 RPTOR chr17 7846713 7864382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTROB chr17 7846713 7864382 Gain and loss Pancreatic cancer SNP array 17952125 CNTROB chr17 7846713 7864382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTROB chr17 78477046 78477146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 78477095 78477326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 7848044 7849044 Loss Osteosarcoma References 21215367 CNTROB chr17 78494961 78602975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPTOR chr17 78494961 78602975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPTOR chr17 78505901 78774742 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPTOR chr17 78519743 78653545 Insert Cancer ultra-high resolution array CGH 21272361 RPTOR chr17 78521680 78521799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPTOR chr17 78525001 78528000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPTOR chr17 7852738 7852838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTROB chr17 78528001 78602500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPTOR chr1 77853142 77853213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr17 7853230 7853330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTROB chr17 78574269 78574349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPTOR chr17 78576391 78576794 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RPTOR chr17 78576467 78576818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPTOR chr17 78593389 78593489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPTOR chr17 7859501 7861000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 78602501 78774742 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPTOR chr17 78609338 78653169 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 RPTOR chr17 7861001 7913000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GUCY2D chr17 78618886 78618971 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 RPTOR chr17 78630856 78646005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPTOR chr17 78630856 78646005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPTOR chr17 7871527 7872527 Loss Osteosarcoma References 21215367 NOT_FOUND chr17 78716357 78716457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPTOR chr17 78717289 78717357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPTOR chr1 77873697 77937558 Gain and loss Pancreatic cancer SNP array 17952125 AK5 chr17 78778053 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 7883083 7893153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7883083 7893153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7883127 7893167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 77883597 77883889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr1 77883597 77883891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr17 78881131 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 7889664 7889664 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr17 78934787 78995379 Amplification or deletion Cancer Array CGH 17440070 CHMP6,RPTOR chr17 78952518 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 78973157 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 77903988 77904088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AK5 chr17 79048399 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79051072 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 790635 793106 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NXN chr17 790635 793106 Gain and loss Pancreatic cancer SNP array 17952125 NXN chr17 7908781 7908881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GUCY2D chr17 7913001 7924500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GUCY2D chr17 79131006 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79157416 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 7916679 7931746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUCY2D chr17 7916679 7931746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2D chr17 7916710 7931746 Gain and loss Pancreatic cancer SNP array 17952125 GUCY2D chr17 79212084 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 7923525 7925608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY2D chr17 7924501 7961500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALOX15B chr17 79269319 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 7928613 7928723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 79299095 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 77934261 77998125 Copy number Lung cancer - 20668451 AK5 chr1 77934261 77998125 Gain or loss Breast cancer - 20668451 AK5 chr1 77934261 77998125 Gain or loss Cancer - 20668451 AK5 chr1 77934261 77998125 Gain or loss Lung cancer - 20668451 AK5 chr1 77934261 77998125 Gain or loss Ovarian cancer - 20668451 AK5 chr1 77934261 77998125 Gain or loss Pancreas cancer - 20668451 AK5 chr1 77934261 77998125 Gain or loss Prostate cancer - 20668451 AK5 chr1 77934264 77998125 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AK5 chr1 77934264 77998125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr1 77934264 77998125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr17 7937499 7938007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 79375674 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 7937597 7981116 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ALOX12B,ALOX15B chr17 7939943 7962532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALOX15B chr17 7939943 7962532 Gain and loss Pancreatic cancer SNP array 17952125 ALOX15B chr17 7939943 7962532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALOX15B chr17 79400961 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79411119 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79413030 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79502651 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 77957330 78056100 Gain and loss Pancreatic cancer SNP array 17952125 AK5,ZZZ3 chr1 77957604 77957695 Gain and loss Pancreatic cancer SNP array 17952125 AK5 chr1 77957605 77957703 Gain and loss Pancreatic cancer SNP array 17952125 AK5 chr17 7961501 7963000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr17 79623591 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 7963001 7984500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALOX12B chr17 7964632 7968127 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 7964632 7968127 Gain or loss Cancer - 20668451 NOT_FOUND chr17 7964632 7968127 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 7964632 7968127 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 7964632 7968127 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 7964632 7968127 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 7965024 7968127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7965024 7968127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 7965614 7968127 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 79680084 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79680165 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79697294 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79704431 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79708923 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 7984136 8019263 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALOX12B,ALOXE3,MIR4314 chr17 7984501 8008500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALOX12B,ALOXE3,MIR4314 chr17 7984514 7996427 Gain or loss Breast cancer - 20668451 ALOX12B,MIR4314 chr17 7984514 7996427 Gain or loss Cancer - 20668451 ALOX12B,MIR4314 chr17 7984514 7996427 Gain or loss Lung cancer - 20668451 ALOX12B,MIR4314 chr17 7984514 7996427 Gain or loss Ovarian cancer - 20668451 ALOX12B,MIR4314 chr17 7984514 7996427 Gain or loss Pancreas cancer - 20668451 ALOX12B,MIR4314 chr17 7984514 7996427 Gain or loss Prostate cancer - 20668451 ALOX12B,MIR4314 chr17 7984515 7996427 Gain and loss Pancreatic cancer SNP array 17952125 ALOX12B,MIR4314 chr17 7984534 7996427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALOX12B,MIR4314 chr17 7984534 7996427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALOX12B,MIR4314 chr1 77984629 77984729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AK5 chr17 7986242 8007589 Gain and loss Pancreatic cancer SNP array 17952125 ALOX12B,ALOXE3,MIR4314 chr17 79878773 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 77988567 77989487 Gain and loss Pancreatic cancer SNP array 17952125 AK5 chr17 7989433 7989533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALOX12B chr17 79935966 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 77993906 77994006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AK5 chr17 7994809 7994909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 79952224 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 79995344 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 8003146 8007017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALOXE3 chr17 8003189 8007017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALOXE3 chr17 8003189 8007017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALOXE3 chr1 78005824 78005924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AK5 chr17 80080215 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 8008501 8171500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALOXE3,AURKB,C17orf59,CTC1,HES7,LINC00324,MIR3676,MIR4521,PER1,PFAS,TMEM107,VAMP2 chr1 78012138 78013137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr17 80136543 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 8017021 8020439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALOXE3 chr17 8017021 8020439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALOXE3 chr17 8017292 8020452 Gain and loss Pancreatic cancer SNP array 17952125 ALOXE3 chr17 8017496 8017630 Gain and loss Pancreatic cancer SNP array 17952125 ALOXE3 chr17 8017496 8017631 Gain and loss Pancreatic cancer SNP array 17952125 ALOXE3 chr17 8017497 8017630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALOXE3 chr17 80175657 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 78017897 78116667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AK5,ZZZ3 chr1 78017897 78116667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5,ZZZ3 chr1 78018171 78018290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AK5 chr17 80195919 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 78024802 78025061 Gain and loss Pancreatic cancer SNP array 17952125 AK5 chr17 802691 802766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NXN chr1 78030000 81650000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 DNAJB4,ELTD1,FAM73A,FUBP1,GIPC2,IFI44,IFI44L,MGC27382,NEXN,PTGFR,USP33,ZZZ3 chr17 80300213 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 8032376 8034950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8032376 8034950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8032391 8034186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 8033110 8033781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 80412309 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 8041655 8041755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 8048773 8054608 Copy number Lung cancer - 20668451 PER1 chr17 8048773 8054608 Gain or loss Breast cancer - 20668451 PER1 chr17 8048773 8054608 Gain or loss Cancer - 20668451 PER1 chr17 8048773 8054608 Gain or loss Lung cancer - 20668451 PER1 chr17 8048773 8054608 Gain or loss Ovarian cancer - 20668451 PER1 chr17 8048773 8054608 Gain or loss Pancreas cancer - 20668451 PER1 chr17 8048773 8054608 Gain or loss Prostate cancer - 20668451 PER1 chr17 8048782 8054625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PER1 chr17 8048782 8054625 Gain and loss Pancreatic cancer SNP array 17952125 PER1 chr17 8048782 8054625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PER1 chr1 78049134 78050054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZZZ3 chr17 8052659 8052731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PER1 chr17 80551503 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 78059054 78067245 Gain and loss Pancreatic cancer SNP array 17952125 ZZZ3 chr17 80621471 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 80630287 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 80644123 80654092 Amplification or deletion Cancer Array CGH 17440070 RAB40B chr17 8064698 8068086 Gain and loss Pancreatic cancer SNP array 17952125 VAMP2 chr17 8064710 8068086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VAMP2 chr17 8064710 8068086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAMP2 chr1 78066334 78120930 Gain and loss Pancreatic cancer SNP array 17952125 ZZZ3 chr17 8066706 9024661 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ARHGEF15,AURKB,C17orf59,CCDC42,CTC1,KRBA2,LINC00324,LOC100128288,MFSD6L,MIR3676,MIR4521,MYH10,NDEL1,NTN1,ODF4,PFAS,PIK3R5,PIK3R6,RANGRF,RNF222,RPL26,SLC25A35,SPDYE4,TMEM107 chr17 80684530 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 80702249 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 8070918 8092087 Gain and loss Pancreatic cancer SNP array 17952125 C17orf59,MIR3676,MIR4521,TMEM107 chr17 8070918 8092138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C17orf59,MIR3676,MIR4521,TMEM107 chr17 8070918 8092138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C17orf59,MIR3676,MIR4521,TMEM107 chr17 80757500 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 78076767 78076867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZZZ3 chr1 78085381 78087075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZZZ3 chr1 78085381 78087075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZZZ3 chr17 80865101 78774742 Deletion Glioma mate-paired sequence 20126413 chr17 80873919 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr17 80906762 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 78091628 78092164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZZZ3 chr17 8093362 8114528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AURKB,C17orf59 chr17 8093362 8114528 Gain and loss Pancreatic cancer SNP array 17952125 AURKB,C17orf59 chr17 8093362 8114528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AURKB,C17orf59 chr1 78093460 78093560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZZZ3 chr17 80964674 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 7810000 7890000 Loss Acute lymphoblastic leukemia - 21339820 CAMTA1,PER3,VAMP3 chr17 81009042 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 78105141 78105241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZZZ3 chr17 81064515 78774742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 78124190 78156774 Gain and loss Pancreatic cancer SNP array 17952125 ZZZ3 chr1 78126788 78182164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP33,ZZZ3 chr1 78126788 78182164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP33,ZZZ3 chr17 8128965 8129040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTC1 chr17 8131807 8139386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTC1 chr17 8131807 8139386 Gain and loss Pancreatic cancer SNP array 17952125 CTC1 chr17 8131807 8139386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTC1 chr17 8132540 8134128 Gain and loss Pancreatic cancer SNP array 17952125 CTC1 chr17 8132714 8134128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTC1 chr17 8132714 8134128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTC1 chr17 8144451 8189367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTC1,PFAS chr1 78144611 78755005 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 DNAJB4,FAM73A,FUBP1,GIPC2,MGC27382,NEXN,USP33,ZZZ3 chr17 8154314 8166554 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PFAS chr17 8154314 8166554 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PFAS chr17 8154315 8166553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PFAS chr17 8154315 8166553 Gain and loss Pancreatic cancer SNP array 17952125 PFAS chr17 8154315 8166553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFAS chr1 78173191 78217365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP33 chr1 78173191 78217365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP33 chr17 8173626 8173762 Gain and loss Pancreatic cancer SNP array 17952125 PFAS chr17 8173626 8173762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFAS chr1 78182657 78195014 Gain and loss Pancreatic cancer SNP array 17952125 USP33 chr17 8183913 8190088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8183913 8190088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 8183913 8190088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8187337 8188693 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 8203535 8203948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 8212680 8220754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF15 chr17 8212680 8220754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF15 chr17 8212698 8215583 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF15 chr1 78221088 78221879 Gain and loss Pancreatic cancer SNP array 17952125 USP33 chr17 8221559 8227290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF15 chr17 8221573 8227236 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF15 chr1 78223610 78315130 Gain and loss Pancreatic cancer SNP array 17952125 FAM73A,USP33 chr17 8232349 8331231 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KRBA2,LOC100128288,ODF4,RNF222,RPL26 chr17 8234752 8241869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8234752 8241869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8236842 8237504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 8237373 8261131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ODF4 chr1 78243224 78255581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM73A chr1 78243224 78255581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM73A chr17 8247939 8260204 Amplification or deletion Cancer Array CGH 17440070 ODF4 chr17 8249241 8259093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ODF4 chr17 8251695 8256896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 7825730 7836159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1,VAMP3 chr1 7825730 7836159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMTA1,VAMP3 chr1 78269204 78269761 Gain and loss Pancreatic cancer SNP array 17952125 FAM73A chr1 78272511 78272610 Gain and loss Pancreatic cancer SNP array 17952125 FAM73A chr1 78272512 78272620 Gain and loss Pancreatic cancer SNP array 17952125 FAM73A chr17 8279902 8324667 Gain and loss Pancreatic cancer SNP array 17952125 RNF222,RPL26 chr17 8279903 8312206 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 RNF222,RPL26 chr17 8279904 8324667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF222,RPL26 chr17 8279904 8324667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF222,RPL26 chr1 78281649 78282449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM73A chr1 78284177 78375697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM73A,NEXN chr1 78284177 78375697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM73A,NEXN chr17 82843700 85015962 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 NOT_FOUND chr1 78299764 78299864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM73A chr17 8318248 8474804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH10,NDEL1 chr17 8318248 8474804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH10,NDEL1 chr17 8318254 8474761 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MYH10,NDEL1 chr17 8318255 8474761 Gain and loss Pancreatic cancer SNP array 17952125 MYH10,NDEL1 chr1 78320999 78772384 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAJB4,FAM73A,FUBP1,GIPC2,MGC27382,NEXN chr1 78320999 79103113 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAJB4,FAM73A,FUBP1,GIPC2,IFI44L,MGC27382,NEXN,PTGFR chr17 8325140 8325208 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr17 83291055 83371028 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 83291055 83371028 Gain or loss Cancer - 20668451 NOT_FOUND chr17 83291055 83371028 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 83291055 83371028 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 83291055 83371028 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 83291055 83371028 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 78329771 78330328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM73A chr1 78333076 78333190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM73A chr1 78333292 78988158 LOH Normal High-resolution SNP genotyping 21211785 DNAJB4,FAM73A,FUBP1,GIPC2,MGC27382,NEXN,PTGFR chr17 834210 834383 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NXN chr17 8355167 8355229 Gain and loss Pancreatic cancer SNP array 17952125 NDEL1 chr1 78360512 78372993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEXN chr17 8360880 10577991 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 CCDC42,DHRS7C,GAS7,GLP2R,MFSD6L,MYH1,MYH10,MYH13,MYH2,MYH3,MYH4,MYH8,NDEL1,NTN1,PIK3R5,PIK3R6,RCVRN,SPDYE4,STX8,USP43,WDR16 chr17 836330 1008128 Gain Barrett's syndrome BAC array 19417022 ABR,MIR3183,NXN,TIMM22 chr17 836501 1038000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABR,MIR3183,NXN,TIMM22 chr1 78383897 78383997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEXN chr17 8390958 8391251 Gain and loss Pancreatic cancer SNP array 17952125 MYH10 chr17 8390958 8391251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH10 chr17 8390960 8391251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH10 chr17 839818 839903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NXN chr17 8407651 8407741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH10 chr1 78408733 78409586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEXN chr1 78411879 78411979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7841939 7847838 Gain and loss Pancreatic cancer SNP array 17952125 PER3 chr1 78421767 78424207 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FUBP1 chr1 78421855 78432177 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FUBP1 chr17 8443718 8443818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH10 chr17 847107 852138 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NXN chr17 847107 852138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NXN chr17 847107 852138 Gain and loss Pancreatic cancer SNP array 17952125 NXN chr17 847107 852138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NXN chr17 8474001 8475500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYH10 chr1 78506986 78518309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GIPC2 chr1 78520448 78520509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GIPC2 chr17 853510 1029881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ABR,MIR3183,NXN,TIMM22 chr17 853510 1029881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABR,MIR3183,NXN,TIMM22 chr17 853510 1029881 Gain and loss Pancreatic cancer SNP array 17952125 ABR,MIR3183,NXN,TIMM22 chr17 853510 1029881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABR,MIR3183,NXN,TIMM22 chr1 7854175 7866851 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PER3 chr1 78542156 78778974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GIPC2,MGC27382 chr1 78542156 78778974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GIPC2,MGC27382 chr17 854657 854657 Deletion Medulloblastoma Illumina SNP arrays 21163964 NXN chr17 8553290 8553322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 78555429 78555535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GIPC2 chr1 7857001 7859000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PER3 chr17 8573977 8588879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8573977 8588879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 8573977 8588879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8590639 8590676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 8597181 8602392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 8597181 8602556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 78606486 78608420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 78607058 78607241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 78607083 78607183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 78613437 78613541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8624724 8669909 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC42,SPDYE4 chr17 8631477 8631577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 86385 86454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPH3AL chr17 8641403 8643163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC42 chr17 8641403 8643163 Gain and loss Pancreatic cancer SNP array 17952125 CCDC42 chr17 8641403 8643163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC42 chr17 8641501 8643000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC42 chr17 8643001 8728500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC42,MFSD6L,PIK3R6,SPDYE4 chr1 78645531 78645631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 8646766 8711719 Gain and loss Pancreatic cancer SNP array 17952125 CCDC42,MFSD6L,PIK3R6,SPDYE4 chr17 8646780 8711723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC42,MFSD6L,PIK3R6,SPDYE4 chr17 8646780 8711723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC42,MFSD6L,PIK3R6,SPDYE4 chr17 86533 115029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPH3AL chr17 8654089 8655987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 78664566 78672849 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 78668749 78716495 Gain and loss Pancreatic cancer SNP array 17952125 MGC27382 chr17 8687216 8732167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MFSD6L,PIK3R6 chr1 78689011 78689128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 8690000 15690000 Loss Breast cancer aCGH 21509527 ADPRM,ARHGAP44,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,COX10,COX10-AS1,DHRS7C,DNAH9,ELAC2,FAM18B2,FAM18B2-CDRT4,GAS7,GLP2R,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAGOH2,MAP2K4,MFSD6L,MGC12916,MIR4731,MIR744,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,MYOCD,NTN1,PIK3R5,PIK3R6,PIRT,PMP22,RCVRN,SCO1,SHISA6,STX8,TBC1D26,TEKT3,TMEM220,TRIM16,USP43,WDR16,ZNF18,ZNF286A chr1 78700000 91200000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 BARHL2,BCL10,C1orf180,C1orf52,CCBL2,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,ELTD1,FLJ27354,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GEMIN8P4,GNG5,GTF2B,HS2ST1,IFI44,IFI44L,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,LPHN2,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MGC27382,MIR4423,MIR548AP,ODF2L,PKN2,PRKACB,PTGFR,RBMXL1,RPF1,SAMD13,SEP15,SH3GLB1,SSX2IP,SYDE2,TTLL7,UOX,WDR63,ZNF326,ZNHIT6 chr1 78702533 78702625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGC27382 chr17 8704477 8704577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 78705470 78705570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGC27382 chr17 8724137 8809749 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PIK3R5,PIK3R6 chr17 8724137 8809749 Gain or loss Breast cancer - 20668451 PIK3R5,PIK3R6 chr17 8724137 8809749 Gain or loss Cancer - 20668451 PIK3R5,PIK3R6 chr17 8724137 8809749 Gain or loss Lung cancer - 20668451 PIK3R5,PIK3R6 chr17 8724137 8809749 Gain or loss Ovarian cancer - 20668451 PIK3R5,PIK3R6 chr17 8724137 8809749 Gain or loss Pancreas cancer - 20668451 PIK3R5,PIK3R6 chr17 8724137 8809749 Gain or loss Prostate cancer - 20668451 PIK3R5,PIK3R6 chr17 8724138 8756559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3R6 chr17 8724138 8756559 Gain and loss Pancreatic cancer SNP array 17952125 PIK3R6 chr17 8724138 8756559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3R6 chr1 78725332 78770596 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MGC27382 chr17 8728501 8735000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PIK3R6 chr1 78729315 78778974 Gain or loss Breast cancer - 20668451 MGC27382 chr1 78729315 78778974 Gain or loss Cancer - 20668451 MGC27382 chr1 78729315 78778974 Gain or loss Lung cancer - 20668451 MGC27382 chr1 78729315 78778974 Gain or loss Ovarian cancer - 20668451 MGC27382 chr1 78729315 78778974 Gain or loss Pancreas cancer - 20668451 MGC27382 chr1 78729315 78778974 Gain or loss Prostate cancer - 20668451 MGC27382 chr17 8735001 9063000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTN1,PIK3R5,PIK3R6 chr1 78755204 78755304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGC27382 chr1 78798170 78820090 Gain and loss Pancreatic cancer SNP array 17952125 MGC27382 chr1 78820918 78821009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGC27382 chr17 882334 912858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABR,NXN,TIMM22 chr17 882555 882636 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NXN chr1 78827537 78841778 Gain and loss Pancreatic cancer SNP array 17952125 MGC27382 chr1 78827978 78995787 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MGC27382,PTGFR chr1 78858676 78881072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 78858676 78881072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 8865584 9084078 Gain and loss Pancreatic cancer SNP array 17952125 NTN1,PIK3R5 chr17 8865584 9088042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTN1,PIK3R5 chr17 8865584 9088042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTN1,PIK3R5 chr17 8867110 8867183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3R5 chr17 886764 931107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABR,MIR3183,TIMM22 chr1 788822 799636 Gain Normal Birdsuite, version 1.5.2 22087296 LOC643837 chr1 78883082 78883182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 78888064 78902351 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 78888104 78902345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 78888104 78902345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 7889543 7926197 Deletion Glioblastoma multiforme Array CGH 19115005 PER3,UTS2 chr1 78904544 78904971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 78904752 78927722 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 8905162 8917856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 78905979 78927722 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr17 8908702 8908767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 8914265 8917764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 78925333 78925433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 78932655 78932729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 8943462 8967581 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NTN1 chr17 896231 896362 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 78987346 78988932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTGFR chr17 9005941 9006057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTN1 chr17 9024661 9846646 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 DHRS7C,GAS7,GLP2R,NTN1,RCVRN,STX8,USP43,WDR16 chr1 79024688 79126050 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 IFI44,IFI44L chr1 7902495 7923474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PER3,UTS2 chr1 7902495 7923474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PER3,UTS2 chr1 79038303 79038403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 904325 1234734 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ABR,BHLHA9,MIR3183,TIMM22,TUSC5 chr1 79044625 79044725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 904536 904685 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TIMM22 chr1 7904576 8024784 Copy number Lung cancer paired-end sequencing 18438408 PARK7,PER3,TNFRSF9,UTS2 chr17 9063001 9086500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTN1 chr1 79068182 79184383 Gain and loss Pancreatic cancer SNP array 17952125 IFI44,IFI44L chr17 9071008 9071093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTN1 chr17 90740267 90765522 Gain or loss Breast cancer - 20668451 NOT_FOUND chr17 90740267 90765522 Gain or loss Cancer - 20668451 NOT_FOUND chr17 90740267 90765522 Gain or loss Lung cancer - 20668451 NOT_FOUND chr17 90740267 90765522 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr17 90740267 90765522 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr17 90740267 90765522 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr17 9076411 9077872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTN1 chr17 9086501 9105500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTN1 chr17 908902 916937 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABR chr17 909443 925417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABR chr17 9094514 9420000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTN1,STX8 chr17 9094514 9420000 Gain and loss Pancreatic cancer SNP array 17952125 NTN1,STX8 chr17 9094514 9420000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTN1,STX8 chr1 79101937 82676831 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ELTD1,IFI44,IFI44L,LPHN2 chr17 9116337 9116437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTN1 chr17 912409 918931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABR chr17 9125548 9654733 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 NTN1,STX8,USP43,WDR16 chr1 79128037 79247245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFI44 chr1 7912926 7912995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UTS2 chr17 913085 913180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABR chr1 7914174 7935153 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 916422 1055526 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ABR,MIR3183 chr1 79166197 79172114 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 79174097 79174418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 9194000 9197160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STX8 chr17 9197787 9205922 Loss Normal 244K array 17666407 STX8 chr17 919813 959060 Gain and loss Pancreatic cancer SNP array 17952125 ABR,MIR3183 chr17 9198372 9199615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STX8 chr17 9200905 9347984 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 STX8 chr1 79214046 85123246 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1orf180,CTBS,DNASE2B,ELTD1,GNG5,LPHN2,MIR548AP,PRKACB,RPF1,SAMD13,SSX2IP,TTLL7,UOX chr1 79232660 79233761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 7924605 7924674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 9258051 9258146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STX8 chr1 79269825 120225489 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 ABCA4,ABCD3,ACTG1P4,ADORA3,AGL,AHCYL1,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,AP4B1,AP4B1-AS1,ARHGAP29,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf180,C1orf194,C1orf52,C1orf88,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CSDE1,CSF1,CTBS,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNASE2B,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,ELTD1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FRRS1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HENMT1,HFM1,HIAT1,HIPK1,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSP90B3P,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LINC00622,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC8B,LRRC8C,LRRC8D,MAB21L3,MAGI3,MAN1A2,MCOLN2,MCOLN3,MIR137,MIR137HG,MIR197,MIR2682,MIR320B1,MIR4256,MIR4423,MIR548AA1,MIR548AP,MIR548D1,MIR553,MIR760,MIR942,MOV10,MTF2,MYBPHL,NBPF4,NBPF6,NGF,NHLH2,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHTF1,PKN2,PPM1J,PRKACB,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGFRN,PTPN22,RAP1A,RBM15,RBMXL1,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SAMD13,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC6A17,SNORA66,SNORD21,SNX7,SORT1,SPAG17,SRG7,SSX2IP,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TAF13,TBX15,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,TTLL7,UBL4B,UOX,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR63,WDR77,WNT2B,ZNF326,ZNF644,ZNF697,ZNHIT6 chr1 79293218 79294328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 9305189 9333437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STX8 chr17 9307489 9341018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STX8 chr17 9311348 9322110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 STX8 chr17 9320276 9357197 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 STX8 chr17 9323928 11680056 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADPRM,DHRS7C,DNAH9,GAS7,GLP2R,LINC00675,MAGOH2,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,PIRT,RCVRN,SCO1,SHISA6,STX8,TMEM220,USP43,WDR16 chr1 79331210 79331446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 9371798 9390173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STX8 chr1 794068 819619 Gain Normal 244K array 17666407 FAM41C,LOC643837 chr17 9420668 9487501 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 STX8,WDR16 chr17 9420669 9487497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STX8,WDR16 chr17 9420669 9487497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STX8,WDR16 chr17 9420709 9487488 Gain and loss Pancreatic cancer SNP array 17952125 STX8,WDR16 chr1 7944300 7967929 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 7944348 7967928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 7944348 7967928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 79443633 79462037 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ELTD1 chr17 9452859 9486156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STX8,WDR16 chr17 9470000 15320000 Deletion Sezary syndrome Array-based CGH 18413736 ADPRM,ARHGAP44,CDRT15,CDRT15P1,CDRT7,COX10,COX10-AS1,DHRS7C,DNAH9,ELAC2,GAS7,GLP2R,HS3ST3A1,HS3ST3B1,LINC00670,LINC00675,MAGOH2,MAP2K4,MGC12916,MIR4731,MIR744,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,MYOCD,PIRT,PMP22,RCVRN,SCO1,SHISA6,STX8,TEKT3,TMEM220,USP43,WDR16,ZNF18 chr1 7948390 7948469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7948505 7981759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TNFRSF9 chr17 9489304 9573728 Gain or loss Breast cancer - 20668451 USP43,WDR16 chr17 9489304 9573728 Gain or loss Cancer - 20668451 USP43,WDR16 chr17 9489304 9573728 Gain or loss Lung cancer - 20668451 USP43,WDR16 chr17 9489304 9573728 Gain or loss Ovarian cancer - 20668451 USP43,WDR16 chr17 9489304 9573728 Gain or loss Pancreas cancer - 20668451 USP43,WDR16 chr17 9489304 9573728 Gain or loss Prostate cancer - 20668451 USP43,WDR16 chr17 9489675 9573143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP43,WDR16 chr17 9489675 9573143 Gain and loss Pancreatic cancer SNP array 17952125 USP43,WDR16 chr17 9489675 9573143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP43,WDR16 chr17 9494137 9495844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WDR16 chr1 79497621 79531738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 79500000 83000000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 LPHN2 chr17 9533358 9888581 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DHRS7C,GAS7,GLP2R,RCVRN,USP43,WDR16 chr1 79557792 79557882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7956018 7979602 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF9 chr17 9566000 22142000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ADORA2B,ADPRM,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf103,C17orf51,C17orf76-AS1,CCDC144A,CCDC144B,CCDC144C,CCDC144NL,CDRT1,CDRT15,CDRT15L2,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DHRS7B,DHRS7C,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM27L,FAM83G,FBXW10,FLCN,FLII,FLJ36000,FOXO3B,GAS7,GID4,GLP2R,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KCNJ12,KCNJ18,KRT16P2,KRT16P3,LGALS9B,LGALS9C,LINC00670,LINC00675,LLGL1,LOC339240,LRRC48,MAGOH2,MAP2K3,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MTRNR2L1,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PIRT,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RCVRN,RNF112,SCO1,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM11,TMEM220,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP22,USP32P1,USP32P2,USP43,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr1 79581909 79582061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 79582082 79582292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 79582102 79582200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 9584208 9584308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP43 chr17 9610001 10082000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHRS7C,GAS7,GLP2R,RCVRN,USP43 chr17 9615480 9635371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP43 chr17 9615480 9635371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP43 chr17 9615572 9635305 Gain and loss Pancreatic cancer SNP array 17952125 USP43 chr1 79629527 79629627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 9629661 9674697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USP43 chr1 79634224 79662371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 79643320 79643420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 9646539 9666113 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr17 9646605 9666128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 79650530 79650630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 7965528 7965630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 9670105 9733747 Copy number Lung cancer - 20668451 DHRS7C,GLP2R chr17 9670105 9733747 Gain or loss Breast cancer - 20668451 DHRS7C,GLP2R chr17 9670105 9733747 Gain or loss Cancer - 20668451 DHRS7C,GLP2R chr17 9670105 9733747 Gain or loss Lung cancer - 20668451 DHRS7C,GLP2R chr17 9670105 9733747 Gain or loss Ovarian cancer - 20668451 DHRS7C,GLP2R chr17 9670105 9733747 Gain or loss Pancreas cancer - 20668451 DHRS7C,GLP2R chr17 9670105 9733747 Gain or loss Prostate cancer - 20668451 DHRS7C,GLP2R chr17 9670106 9733747 Gain and loss Pancreatic cancer SNP array 17952125 DHRS7C,GLP2R chr17 9670106 9736144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHRS7C,GLP2R chr17 9670106 9736144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHRS7C,GLP2R chr1 79670333 79670797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 971465 971794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABR chr1 79721071 79879490 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr17 9725411 9725717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 7973109 7973258 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 9734711 9734801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLP2R chr17 9736000 9835000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 GAS7,GLP2R,RCVRN chr17 9736000 9835000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 GAS7,GLP2R,RCVRN chr17 9741752 9749409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLP2R chr17 9741752 9749409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLP2R chr17 9741753 9749409 Gain and loss Pancreatic cancer SNP array 17952125 GLP2R chr17 9754650 10042593 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 GAS7,GLP2R,RCVRN chr17 9754650 10042593 Gain or loss Breast cancer - 20668451 GAS7,GLP2R,RCVRN chr17 9754650 10042593 Gain or loss Cancer - 20668451 GAS7,GLP2R,RCVRN chr17 9754650 10042593 Gain or loss Lung cancer - 20668451 GAS7,GLP2R,RCVRN chr17 9754650 10042593 Gain or loss Ovarian cancer - 20668451 GAS7,GLP2R,RCVRN chr17 9754650 10042593 Gain or loss Pancreas cancer - 20668451 GAS7,GLP2R,RCVRN chr17 9754650 10042593 Gain or loss Prostate cancer - 20668451 GAS7,GLP2R,RCVRN chr17 9754651 10042593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAS7,GLP2R,RCVRN chr17 9754651 10042593 Gain and loss Pancreatic cancer SNP array 17952125 GAS7,GLP2R,RCVRN chr17 9754651 10042593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAS7,GLP2R,RCVRN chr1 79759353 79760476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 79759353 79760476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr17 9760000 20110000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 ADORA2B,ADPRM,AKAP10,ALDH3A1,ALDH3A2,ALKBH5,ARHGAP44,ATPAF2,B9D1,C17orf76-AS1,CCDC144A,CCDC144B,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DNAH9,DRG2,ELAC2,EPN2,EPN2-AS1,EPN2-IT1,EVPLL,FAM106A,FAM106CP,FAM18B1,FAM18B2,FAM18B2-CDRT4,FAM211A,FAM83G,FBXW10,FLCN,FLII,FOXO3B,GAS7,GID4,GLP2R,GRAP,GRAPL,HS3ST3A1,HS3ST3B1,KRT16P2,LGALS9C,LINC00670,LINC00675,LLGL1,LOC339240,LRRC48,MAGOH2,MAP2K4,MAPK7,MED9,MEIS3P1,MFAP4,MGC12916,MIR1180,MIR1288,MIR33B,MIR4731,MIR744,MPRIP,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,MYO15A,MYOCD,NCOR1,NT5M,PEMT,PIGL,PIRT,PLD6,PMP22,PRPSAP2,RAI1,RASD1,RCVRN,RNF112,SCO1,SHISA6,SHMT1,SLC47A1,SLC47A2,SLC5A10,SMCR5,SMCR7,SMCR8,SMCR9,SNORA59A,SNORA59B,SNORD49A,SNORD49B,SNORD65,SPECC1,SREBF1,TBC1D26,TBC1D28,TEKT3,TMEM220,TNFRSF13B,TOM1L2,TOP3A,TRIM16,TRIM16L,TRPV2,TTC19,UBB,ULK2,USP32P1,USP32P2,ZNF18,ZNF286A,ZNF286B,ZNF287,ZNF624,ZSWIM7 chr1 7977209 7977309 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF9 chr1 7977210 7977308 Gain and loss Pancreatic cancer SNP array 17952125 TNFRSF9 chr17 9778878 9780289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLP2R chr17 9808904 11332366 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADPRM,GAS7,LINC00675,MAGOH2,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,PIRT,SCO1,SHISA6,TMEM220 chr17 9835000 10035000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 GAS7 chr17 9835000 10035000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 GAS7 chr1 79842186 79842277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr17 9846646 11078664 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADPRM,GAS7,LINC00675,MAGOH2,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,PIRT,SCO1,TMEM220 chr17 9849290 17282737 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 ADORA2B,ADPRM,ARHGAP44,C17orf76-AS1,CCDC144A,CDRT1,CDRT15,CDRT15P1,CDRT15P2,CDRT4,CDRT7,CENPV,COPS3,COX10,COX10-AS1,DNAH9,ELAC2,FAM106CP,FAM18B2,FAM18B2-CDRT4,FAM211A,FLCN,GAS7,HS3ST3A1,HS3ST3B1,KRT16P2,LINC00670,LINC00675,MAGOH2,MAP2K4,MEIS3P1,MGC12916,MIR1288,MIR4731,MIR744,MPRIP,MYH1,MYH13,MYH2,MYH3,MYH4,MYH8,MYOCD,NCOR1,NT5M,PIGL,PIRT,PLD6,PMP22,SCO1,SHISA6,SNORD49A,SNORD49B,SNORD65,TBC1D26,TEKT3,TMEM220,TNFRSF13B,TRIM16,TRPV2,TTC19,UBB,USP32P1,ZNF18,ZNF286A,ZNF287,ZNF624,ZSWIM7 chr1 798535 799592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 79868664 79868764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 798710 798820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 79876750 79898222 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 79884701 79888900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 79886761 79887077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr17 9904677 9904777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAS7 chr17 9914932 9915046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAS7 chr17 9926840 10302007 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 GAS7,MYH13,MYH8 chr1 7994382 8008943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF9 chr1 7994382 8008943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFRSF9 chr1 799622 4933181 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 ACAP3,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CPSF3L,DFFB,DVL1,FAM132A,FAM213B,FAM41C,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LOC100129534,LOC100130417,LOC100133445,LOC100133612,LOC115110,LOC148413,LOC254099,LOC284661,LOC728716,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WRAP73 chr1 799636 803181 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr17 9989556 9991002 Gain and loss Pancreatic cancer SNP array 17952125 GAS7 chr17 9991188 9991288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAS7 chr1 79992231 79993855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 79992526 79995969 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr1 79994369 79995628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 79997019 79997051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80011207 80011239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8006049 8020634 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr1 80111169 80111269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80118300 80925401 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 80170216 80170316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80180570 80180670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80182302 80182452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80202769 80202869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80224993 80236635 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 80299124 80299331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80299129 80299229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 803181 813999 Gain Normal Birdsuite, version 1.5.2 22087296 FAM41C chr1 80329050 80361409 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 80330380 80331512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 8034322 8084437 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ERRFI1,PARK7 chr1 80388496 80388596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8039892 8041110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARK7 chr1 8040078 16686198 Copy number Lung cancer paired-end sequencing 18438408 AADACL3,AADACL4,AGMAT,AGTRAP,ANGPTL7,APITD1,APITD1-CORT,ARHGEF19,C1orf126,C1orf127,C1orf158,C1orf200,C1orf64,CA6,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC16,DRAXIN,EFHD2,ENO1,ENO1-AS1,EPHA2,ERRFI1,EXOSC10,FAM131C,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,GPR157,H6PD,HNRNPCL1,HSPB7,KAZN,KIAA2013,KIF1B,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PARK7,PDPN,PEX14,PGD,PIK3CD,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RERE,RSC1A1,RSG1,SLC25A33,SLC25A34,SLC2A5,SLC2A7,SLC45A1,SNORA59A,SNORA59B,SPEN,SPSB1,SRM,TARDBP,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,UQCRHL,VPS13D,ZBTB17 chr1 8051572 8052795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 80521625 80522243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 805354 805436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM41C chr1 80628788 80629703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 80649421 80649521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80659900 80660000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80671933 80672033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80689355 80690270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 80702580 80703026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 80734176 80734506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 0 76117153 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr1 80773793 80773893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80821425 83677425 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 LPHN2 chr1 80839912 80885914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 80871966 80872040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80884697 80917728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 80966930 80967256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 80978613 80978713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 80982494 81027875 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 1000000 4620000 Loss Acute lymphoblastic leukemia - 21339820 CBX3P2,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,LINC00470,LOC727896,LPIN2,METTL4,MYL12A,MYL12B,MYOM1,NDC80,SMCHD1,TGIF1 chr18 10011879 10011972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 10016369 10016444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 10018001 11702839 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APCDD1,GNAL,NAPG,PIEZO2 chr18 100535 101420 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 10066304 10066384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 100932528 102559834 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr18 1011735 1056543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 10127382 10594362 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 APCDD1,NAPG chr18 10140828 10141015 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 1015179 1130007 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr18 1020147 1020237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 10210501 10215400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 10212279 10213604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 81025617 81025684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 102759 986019 Substitutions and indels small cell lung cancer array-CGH 20016488 ADCYAP1,C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,ROCK1P1,THOC1,TYMS,USP14,YES1 chr18 10290490 10290579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 10321018 10321158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 10353254 10353305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 10379690 10379790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 10379905 10379997 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 10379905 10379997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 10418770 10418802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 10421301 10421485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 10444543 10478697 Gain and loss Pancreatic cancer SNP array 17952125 APCDD1 chr18 10444624 10478698 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 APCDD1 chr18 10444625 10478692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APCDD1 chr18 10444625 10478692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APCDD1 chr1 81044626 81059735 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 10448243 10448572 Gain Normal 244K array 17666407 NOT_FOUND chr18 10516030 10540372 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NAPG chr18 10516031 10540366 Gain and loss Pancreatic cancer SNP array 17952125 NAPG chr18 10516031 10540371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAPG chr18 10516031 10540371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAPG chr18 10556581 10909330 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PIEZO2 chr18 10598248 10632111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 10601000 10628301 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr18 10659884 10660214 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 10660864 10687814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIEZO2 chr18 10660864 10687814 Gain and loss Pancreatic cancer SNP array 17952125 PIEZO2 chr18 10660864 10687814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIEZO2 chr18 10699396 10728627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIEZO2 chr18 10714501 10717500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PIEZO2 chr18 10721474 10777140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIEZO2 chr18 10747445 10747541 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIEZO2 chr18 10747984 10779109 Gain and loss Pancreatic cancer SNP array 17952125 PIEZO2 chr18 10784068 10861413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIEZO2 chr18 10784068 10861413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIEZO2 chr18 10784970 10861413 Gain and loss Pancreatic cancer SNP array 17952125 PIEZO2 chr18 10787177 10787355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIEZO2 chr18 10817140 17272427 Amplification Breast cancer Array CGH 16620391 AFG3L2,ANKRD20A5P,ANKRD30B,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LOC100288122,LOC644669,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,PIEZO2,POTEC,PSMG2,PTPN2,RNMT,SEH1L,SLMO1,SPIRE1,TUBB6,ZNF519 chr18 10824696 10825696 Loss Osteosarcoma References 21215367 PIEZO2 chr18 10824697 10825697 Gain Osteosarcoma References 21215367 PIEZO2 chr18 10824728 10825728 Loss Osteosarcoma References 21215367 PIEZO2 chr18 10900000 15400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AFG3L2,ANKRD20A5P,ANKRD30B,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LOC100288122,LOC644669,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,PIEZO2,POTEC,PSMG2,PTPN2,RNMT,SEH1L,SLMO1,SPIRE1,TUBB6,ZNF519 chr18 10900000 15400000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 AFG3L2,ANKRD20A5P,ANKRD30B,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LOC100288122,LOC644669,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,PIEZO2,POTEC,PSMG2,PTPN2,RNMT,SEH1L,SLMO1,SPIRE1,TUBB6,ZNF519 chr18 10900000 15400000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 AFG3L2,ANKRD20A5P,ANKRD30B,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LOC100288122,LOC644669,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,PIEZO2,POTEC,PSMG2,PTPN2,RNMT,SEH1L,SLMO1,SPIRE1,TUBB6,ZNF519 chr18 10900000 15400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AFG3L2,ANKRD20A5P,ANKRD30B,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LOC100288122,LOC644669,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,PIEZO2,POTEC,PSMG2,PTPN2,RNMT,SEH1L,SLMO1,SPIRE1,TUBB6,ZNF519 chr18 10900000 15400000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 AFG3L2,ANKRD20A5P,ANKRD30B,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LOC100288122,LOC644669,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,PIEZO2,POTEC,PSMG2,PTPN2,RNMT,SEH1L,SLMO1,SPIRE1,TUBB6,ZNF519 chr18 10927421 10927521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIEZO2 chr18 10930211 11702839 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GNAL,PIEZO2 chr1 81093821 81135368 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 81096972 81140291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 10980898 10980998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIEZO2 chr1 81098789 81138243 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 11051269 11051369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIEZO2 chr18 11063585 11063635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIEZO2 chr18 1106854 1107126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 1 1070895 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1119K arrays 21546498 ADCYAP1,C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,ROCK1P1,THOC1,TYMS,USP14,YES1 chr18 11071504 11071599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIEZO2 chr18 1 10900000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ADCYAP1,ANKRD12,APCDD1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,ROCK1P1,SMCHD1,SOGA2,TGIF1,THOC1,TMEM200C,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161 chr18 11110982 11111072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIEZO2 chr18 1 1118244 Amplification Esophageal cancer affymetrix genechip human mapping 259K Nsp arrays 21851588 ADCYAP1,C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,ROCK1P1,THOC1,TYMS,USP14,YES1 chr1 81112175 81147746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 11136001 11140000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PIEZO2 chr18 11166479 11166569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1 11704674 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1130K arrays 21546498 ADCYAP1,ANKRD12,APCDD1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,GNAL,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,ROCK1P1,SMCHD1,SOGA2,TGIF1,THOC1,TMEM200C,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161 chr18 11227392 11227490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 1124358 6684866 Deletion Acute myeloid leukemia - 21251322 C18orf42,CBX3P2,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,L3MBTL4,LINC00470,LINC00526,LINC00667,LOC100130480,LOC645355,LOC727896,LPIN2,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,SMCHD1,TGIF1,TMEM200C,ZFP161 chr18 11257562 11257632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1 126500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ROCK1P1 chr18 11265585 11265678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 11292104 11292204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1134975 14105871 Substitutions and indels small cell lung cancer array-CGH 20016488 AFG3L2,ANKRD12,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf61,CBX3P2,CEP192,CEP76,CHMP1B,CIDEA,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,TMEM200C,TUBB6,TWSG1,TXNDC2,VAPA,ZFP161,ZNF519 chr1 81137761 81137793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 11380765 11380858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 81143408 81165778 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81147143 81165778 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 11489825 11534209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 11497401 11503200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 11499706 11501474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 1 15096727 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1127K arrays 21546498 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 15096727 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1128K arrays 21546498 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 15096727 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1134K arrays 21546498 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr1 81151357 81165778 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 11523001 11524500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 11525425 11982816 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1125K arrays 21546498 CHMP1B,GNAL,IMPA2,MPPE1 chr18 1 15313807 Duplication Intellectual disability Array CGH 22102821 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 11534143 11535718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 11534190 11534269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1 15400000 Amplification Esophageal squamous carcinoma CGH 21637470 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 15400000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 15400000 Gain or loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 15400000 Loss Seminomas CGH, Comparative expressed sequence hybridisation 18059402 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1159321 1159421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 11599501 11609000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 11599595 11600611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 11603000 11632118 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr18 11609001 12036000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHMP1B,GNAL,IMPA2,MPPE1 chr18 11609580 11629419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 11609580 11629419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 11609583 11624052 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 116099694 116225676 Amplification Lung cancer FISH 18172305 NOT_FOUND chr18 116099694 116225676 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 116099694 116225676 Gain or loss Cancer - 20668451 NOT_FOUND chr18 116099694 116225676 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 116099694 116225676 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 116099694 116225676 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 116099694 116225676 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 116099694 116225676 In Colorectal cancer - 20709793 NOT_FOUND chr18 116099694 116225676 Increases Lung cancer FISH 20877625 NOT_FOUND chr18 1 16100000 Deletion Kartagener syndrome reference 16639409 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 16100000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 16100000 Gain Cancer array-based techniques 21183584 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 16100000 Gain Esophageal squamous carcinoma CGH 21637470 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 16100000 Gain or loss Endometrial cancer CGH 22040021 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 16100000 Loss Breast cancer aCGH 21264507 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1161449 1161523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 11679263 11871921 Gain and loss Pancreatic cancer SNP array 17952125 CHMP1B,GNAL chr18 11679563 11872683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHMP1B,GNAL chr18 11679563 11872683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHMP1B,GNAL chr18 11704674 12379542 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1131K arrays 21546498 AFG3L2,C18orf61,CHMP1B,CIDEA,GNAL,IMPA2,MPPE1,TUBB6 chr18 1171856 1171956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1 17200000 Amplification Esophageal squamous carcinoma CGH 18350619 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 17200000 Copy number Endometrioid adenocarcinoma CGH 16974079 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 17200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 17200000 Deletion Colorectal cancer GISTIC software 19359472 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 1 17200000 Loss Human rectal carcinomas oligonucleotide arrays 16397240 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,ROCK1P1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr1 81177346 81183536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 11785327 11785359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNAL chr18 11816236 11816331 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GNAL chr18 11816236 11816331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNAL chr18 11816269 11816367 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNAL chr18 11841425 11842697 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 GNAL chr18 11855087 11856908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNAL chr18 11862250 11862330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNAL chr18 11863962 11884082 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 GNAL,MPPE1 chr18 11873470 11898641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAL,MPPE1 chr18 11873470 11898641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAL,MPPE1 chr18 11873476 11898779 Gain and loss Pancreatic cancer SNP array 17952125 GNAL,MPPE1 chr18 11887023 12066102 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IMPA2,MPPE1 chr18 1189564 1190310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 118985 11468600 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADCYAP1,ANKRD12,APCDD1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,ROCK1P1,SMCHD1,SOGA2,TGIF1,THOC1,TMEM200C,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161 chr18 11909202 11936727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 11936116 11936206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 81195119 81197012 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 11957792 12120394 Loss Autism qPCR 20531469 IMPA2 chr18 11961917 11962237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 11971427 12020877 Gain and loss Pancreatic cancer SNP array 17952125 IMPA2 chr18 11971455 12020876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IMPA2 chr18 11971455 12020876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IMPA2 chr18 12036001 12038500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12038501 12050000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12046672 12047814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 12047005 12047679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12048279 12048339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 12050001 12052000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12052001 12057000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12057001 12058500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12057186 12058260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12065700 12066653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 12075501 12077500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12077501 12081500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12081501 12083000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12083848 12119746 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12084050 12119746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 12084050 12119746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 12088426 12088530 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12088426 12088531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12088426 12088531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81208991 81216668 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr18 1209390 1209444 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 12110000 12142054 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr18 12181000 12214739 Duplication Non-syndromic sensorineural hearing loss References 19212409 C18orf61 chr18 12225602 13369730 LOH Normal High-resolution SNP genotyping 21211785 AFG3L2,C18orf1,CEP192,CEP76,CIDEA,PSMG2,PTPN2,SEH1L,SLMO1,SPIRE1,TUBB6 chr18 12230681 12489525 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AFG3L2,CIDEA,SLMO1,SPIRE1,TUBB6 chr18 12243501 12245000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 12244318 12267592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIDEA chr18 12244318 12267592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIDEA chr18 12244383 12267592 Gain and loss Pancreatic cancer SNP array 17952125 CIDEA chr18 12245001 12432000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AFG3L2,CIDEA,SLMO1,TUBB6 chr18 12249115 12920778 LOH Normal High-resolution SNP genotyping 21211785 AFG3L2,CEP76,CIDEA,PSMG2,PTPN2,SLMO1,SPIRE1,TUBB6 chr18 12252887 12879131 LOH Normal High-resolution SNP genotyping 21211785 AFG3L2,CEP76,CIDEA,PSMG2,PTPN2,SLMO1,SPIRE1,TUBB6 chr1 812262 832522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 12279575 13221957 LOH Normal High-resolution SNP genotyping 21211785 AFG3L2,C18orf1,CEP192,CEP76,PSMG2,PTPN2,SEH1L,SLMO1,SPIRE1,TUBB6 chr18 12294090 12294190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12294090 12294193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 12294090 12294194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12298240 12316567 Gain and loss Pancreatic cancer SNP array 17952125 TUBB6 chr18 12298257 12316567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBB6 chr18 12298257 12316567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBB6 chr18 12315241 12315351 Gain and loss Pancreatic cancer SNP array 17952125 TUBB6 chr18 12315241 12315351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBB6 chr18 12319108 12367194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AFG3L2,TUBB6 chr18 12319108 12367194 Gain and loss Pancreatic cancer SNP array 17952125 AFG3L2,TUBB6 chr18 12319108 12367194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFG3L2,TUBB6 chr18 1 23300000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD3,ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,C18orf8,CABLES1,CABYR,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CTAGE1,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,ESCO1,FAM210A,GATA6,GNAL,GREB1L,HRH4,IMPA2,IMPACT,L3MBTL4,LAMA1,LAMA3,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LOC729950,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIB1,MIR1-2,MIR133A1,MIR3156-2,MIR320C1,MIR320C2,MIR3976,MIR4317,MIR4526,MIR4741,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,NPC1,OSBPL1A,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RBBP8,RIOK3,RNMT,ROCK1,ROCK1P1,SEH1L,SLMO1,SMCHD1,SNRPD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TMEM241,TTC39C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519,ZNF521 chr18 12341281 12344053 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AFG3L2 chr18 1235559 1235789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1235809 1235944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 12386641 12841243 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CEP76,PSMG2,PTPN2,SLMO1,SPIRE1 chr18 12390410 12390471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12397928 12422234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLMO1 chr18 12397928 12422234 Gain and loss Pancreatic cancer SNP array 17952125 SLMO1 chr18 12397928 12422234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLMO1 chr1 81243108 81288075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 12436511 12648133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPIRE1 chr18 12436511 12648133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPIRE1 chr18 12436512 12647964 Gain and loss Pancreatic cancer SNP array 17952125 SPIRE1 chr18 12440440 12441056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 12458882 12458982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPIRE1 chr18 12462444 12481894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPIRE1 chr18 12462999 12508189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPIRE1 chr18 12479688 12483521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPIRE1 chr18 12493664 12494385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPIRE1 chr18 12493702 12494211 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SPIRE1 chr18 1 25000000 Loss Colorectal cancer 30K oligonucleotide-based Array CGH 19150955 ABHD3,ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,C18orf8,CABLES1,CABYR,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,COLEC12,CTAGE1,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,ESCO1,FAM210A,GATA6,GNAL,GREB1L,HRH4,IMPA2,IMPACT,KCTD1,L3MBTL4,LAMA1,LAMA3,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIB1,MIR1-2,MIR133A1,MIR3156-2,MIR320C1,MIR320C2,MIR3976,MIR4317,MIR4526,MIR4741,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,NPC1,OSBPL1A,PIEZO2,POTEC,PPP4R1,PSMA8,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RBBP8,RIOK3,RNMT,ROCK1,ROCK1P1,SEH1L,SLMO1,SMCHD1,SNRPD1,SOGA2,SPIRE1,SS18,TAF4B,TGIF1,THOC1,TMEM200C,TMEM241,TTC39C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519,ZNF521 chr18 1 25000000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD3,ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,C18orf8,CABLES1,CABYR,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,COLEC12,CTAGE1,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,ESCO1,FAM210A,GATA6,GNAL,GREB1L,HRH4,IMPA2,IMPACT,KCTD1,L3MBTL4,LAMA1,LAMA3,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIB1,MIR1-2,MIR133A1,MIR3156-2,MIR320C1,MIR320C2,MIR3976,MIR4317,MIR4526,MIR4741,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,NPC1,OSBPL1A,PIEZO2,POTEC,PPP4R1,PSMA8,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RBBP8,RIOK3,RNMT,ROCK1,ROCK1P1,SEH1L,SLMO1,SMCHD1,SNRPD1,SOGA2,SPIRE1,SS18,TAF4B,TGIF1,THOC1,TMEM200C,TMEM241,TTC39C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519,ZNF521 chr18 12523424 12523524 Gain and loss Pancreatic cancer SNP array 17952125 SPIRE1 chr18 12523424 12523524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPIRE1 chr18 12528265 12528365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPIRE1 chr18 12534871 12534980 Gain and loss Pancreatic cancer SNP array 17952125 SPIRE1 chr18 12534871 12534980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPIRE1 chr18 1259822 1349630 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00470 chr18 1259822 1349630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00470 chr18 12610925 12610991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPIRE1 chr18 126240 133591 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 1262439 1268634 Gain and loss Pancreatic cancer SNP array 17952125 LINC00470 chr18 12629429 12629529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPIRE1 chr18 12648205 12648712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPIRE1 chr18 12648729 12715737 Gain and loss Pancreatic cancer SNP array 17952125 CEP76,PSMG2,SPIRE1 chr18 12662630 12692703 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CEP76,PSMG2 chr18 12662632 12692703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP76,PSMG2 chr18 12662632 12692703 Gain and loss Pancreatic cancer SNP array 17952125 CEP76,PSMG2 chr18 12662632 12692703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP76,PSMG2 chr18 12684815 12715737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP76,PSMG2 chr18 12684815 12715737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP76,PSMG2 chr18 1269636 1924932 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LINC00470 chr18 12701423 12705465 Loss Normal 244K array 17666407 CEP76,PSMG2 chr18 12735691 13381144 LOH Normal High-resolution SNP genotyping 21211785 C18orf1,CEP192,PTPN2,SEH1L chr18 12750716 12750811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12750716 12750815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12750716 12750817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81275967 81276583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 12765950 12769180 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 12775485 12874334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN2 chr18 12775485 12874334 Gain and loss Pancreatic cancer SNP array 17952125 PTPN2 chr18 12775485 12874334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN2 chr18 12841183 12841511 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPN2 chr18 1 2900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADCYAP1,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,EMILIN2,ENOSF1,LINC00470,METTL4,NDC80,ROCK1P1,SMCHD1,THOC1,TYMS,USP14,YES1 chr18 1 2900000 Deletion prenatal diagnosis Multiplex ligation probe amplification 20453657 ADCYAP1,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,EMILIN2,ENOSF1,LINC00470,METTL4,NDC80,ROCK1P1,SMCHD1,THOC1,TYMS,USP14,YES1 chr18 1 2900000 Duplication Heart disease Illumina 632Quad Beadchip platform 21282601 ADCYAP1,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,EMILIN2,ENOSF1,LINC00470,METTL4,NDC80,ROCK1P1,SMCHD1,THOC1,TYMS,USP14,YES1 chr18 1 2900000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 ADCYAP1,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,EMILIN2,ENOSF1,LINC00470,METTL4,NDC80,ROCK1P1,SMCHD1,THOC1,TYMS,USP14,YES1 chr18 1 2900000 LOH Gastrointestinal cancer Real-time PCR 17018589 ADCYAP1,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,EMILIN2,ENOSF1,LINC00470,METTL4,NDC80,ROCK1P1,SMCHD1,THOC1,TYMS,USP14,YES1 chr18 1 2900000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADCYAP1,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,EMILIN2,ENOSF1,LINC00470,METTL4,NDC80,ROCK1P1,SMCHD1,THOC1,TYMS,USP14,YES1 chr18 12937983 12977533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEH1L chr18 12937983 12977533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEH1L chr18 12938029 12977526 Gain and loss Pancreatic cancer SNP array 17952125 SEH1L chr18 12981360 13115049 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CEP192,SEH1L chr18 12982089 13115047 Gain and loss Pancreatic cancer SNP array 17952125 CEP192,SEH1L chr18 12985357 12985412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEH1L chr18 12998499 13115052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP192 chr18 12998499 13115052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP192 chr18 13020518 13601674 Loss Urothelial carcinoma array CGH validated by FISH 21177765 C18orf1,CEP192,LOC100288122,MIR5190 chr18 13090978 13091040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP192 chr18 13120501 13609500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C18orf1,CEP192,LOC100288122,MIR5190 chr18 13126930 13127030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 13129789 13130488 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 13129795 13130488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 13133166 13134157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 13133387 13134152 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 1313760 1314086 Gain and loss Pancreatic cancer SNP array 17952125 LINC00470 chr18 1313767 1314086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00470 chr18 1313847 1314086 Gain and loss Pancreatic cancer SNP array 17952125 LINC00470 chr18 13138743 13138782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 13141643 13142687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 13174977 13175077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1318711 1318811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00470 chr1 81319063 81319444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 13208795 13642753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C18orf1,LOC100288122,MIR4526,MIR5190 chr18 13208795 13642753 Gain and loss Pancreatic cancer SNP array 17952125 C18orf1,LOC100288122,MIR4526,MIR5190 chr18 13208795 13642753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C18orf1,LOC100288122,MIR4526,MIR5190 chr18 13216854 13216932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 13217152 13217486 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 13234708 13234757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 13258230 13258330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 13266410 13306570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C18orf1 chr18 1 32700000 Amplification Esophageal squamous carcinoma CGH 18350619 ABHD3,ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,B4GALT6,C18orf1,C18orf34,C18orf42,C18orf56,C18orf61,C18orf8,CABLES1,CABYR,CBX3P2,CDH2,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,COLEC12,CTAGE1,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,EMILIN2,ENOSF1,EPB41L3,ESCO1,FAM210A,FAM59A,GATA6,GNAL,GREB1L,HRH4,IMPA2,IMPACT,KCTD1,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC100652770,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LPIN2,LRRC30,MAPRE2,MC2R,MC5R,MEP1B,METTL4,MIB1,MIR1-2,MIR133A1,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3976,MIR4317,MIR4526,MIR4741,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,NOL4,NPC1,OSBPL1A,PIEZO2,POTEC,PPP4R1,PSMA8,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RBBP8,RIOK3,RNF125,RNF138,RNMT,ROCK1,ROCK1P1,SEH1L,SLC25A52,SLMO1,SMCHD1,SNRPD1,SOGA2,SPIRE1,SS18,TAF4B,TGIF1,THOC1,TMEM200C,TMEM241,TRAPPC8,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,WBP11P1,YES1,ZFP161,ZNF519,ZNF521 chr18 13282248 13304040 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C18orf1 chr18 13285725 13304040 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C18orf1 chr18 13291705 13304040 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C18orf1 chr18 13337528 13337628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 133622 142558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 13363960 13364015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C18orf1 chr1 81336534 81337707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 13445883 13445983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 13454437 14013754 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C18orf1,FAM210A,MC2R,MC5R,MIR4526,MIR5190,RNMT chr18 13470743 13504870 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C18orf1 chr1 81351532 81351777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1352441 1353874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00470 chr18 1352497 1353874 Gain and loss Pancreatic cancer SNP array 17952125 LINC00470 chr18 13561962 13562062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 13588706 13604926 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C18orf1 chr18 13605937 13606037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 13609501 13615000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C18orf1,MIR4526 chr18 13610866 13642753 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C18orf1,MIR4526 chr18 13621724 13621789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 13622290 13622390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 13623503 13623603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf1 chr18 1363321 1964315 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 13637104 13637594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C18orf1 chr18 13653345 13716591 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM210A chr18 13653346 13716591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM210A chr18 13653346 13716591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM210A chr18 13655741 13672108 Gain and loss Pancreatic cancer SNP array 17952125 FAM210A chr18 1368354 1368454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 13705095 13705367 Gain and loss Pancreatic cancer SNP array 17952125 FAM210A chr18 13705095 13705367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM210A chr18 13705099 13705367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM210A chr18 13716660 13754557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM210A,RNMT chr18 13716660 13754557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM210A,RNMT chr18 13716703 13754554 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM210A,RNMT chr18 13716704 13754554 Gain and loss Pancreatic cancer SNP array 17952125 FAM210A,RNMT chr1 81371994 81372094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 13746399 13746497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNMT chr18 13751482 14297574 LOH Normal High-resolution SNP genotyping 21211785 ANKRD20A5P,MC2R,MC5R,RNMT,ZNF519 chr18 13772867 13916665 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 MC2R,MC5R chr18 13813914 13813985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 13814958 13847604 Loss Normal Birdsuite, version 1.5.2 22087296 MC5R chr18 13815543 13816861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 13815543 13816861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 13815764 13816742 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 13815764 13816742 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 13815764 13816742 Gain or loss Cancer - 20668451 NOT_FOUND chr18 13815764 13816742 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 13815764 13816742 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 13815764 13816742 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 13815764 13816742 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 13870000 14590000 Loss Breast cancer aCGH 21509527 ANKRD20A5P,CXADRP3,CYP4F35P,MC2R,POTEC,ZNF519 chr18 13872043 13905535 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MC2R chr18 13872043 13905535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MC2R chr18 13872043 13905535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MC2R chr18 13874624 13875517 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 13877124 13877381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 13909602 13909922 Gain and loss Pancreatic cancer SNP array 17952125 MC2R chr1 8139415 8163405 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 13988330 13988430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 13988748 15367893 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A5P,ANKRD30B,CXADRP3,CYP4F35P,LOC644669,MIR3156-2,POTEC,ZNF519 chr1 813999 826948 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 14011778 14011928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 14027144 14027487 Loss Normal 244K array 17666407 NOT_FOUND chr18 140284 14065199 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ADCYAP1,AFG3L2,ANKRD12,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161 chr18 140284 46969866 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ABHD3,ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,B4GALT6,C18orf1,C18orf21,C18orf25,C18orf34,C18orf42,C18orf56,C18orf61,C18orf8,CABLES1,CABYR,CBX3P2,CDH2,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,COLEC12,CTAGE1,CTIF,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FHOD3,GALNT1,GATA6,GNAL,GREB1L,HAUS1,HDHD2,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KIAA1328,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LOC100130480,LOC100192426,LOC100288122,LOC100506888,LOC100652770,LOC284260,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MAPRE2,MC2R,MC5R,MEP1B,METTL4,MIB1,MIR1-2,MIR133A1,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4526,MIR4741,MIR4743,MIR4744,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,NOL4,NPC1,OSBPL1A,PIAS2,PIEZO2,PIK3C3,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF165,RNMT,ROCK1,RPRD1A,SEH1L,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD7,SMCHD1,SNRPD1,SOGA2,SPIRE1,SS18,ST8SIA5,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TGIF1,THOC1,TMEM200C,TMEM241,TPGS2,TRAPPC8,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,WBP11P1,YES1,ZBTB7C,ZFP161,ZNF24,ZNF271,ZNF396,ZNF397,ZNF519,ZNF521,ZSCAN30 chr18 140284 5368662 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ADCYAP1,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,LINC00470,LINC00526,LINC00667,LOC727896,LPIN2,METTL4,MYL12A,MYL12B,MYOM1,NDC80,SMCHD1,TGIF1,THOC1,TYMS,USP14,YES1,ZFP161 chr18 140284 7574236 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ADCYAP1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,PTPRM,SMCHD1,TGIF1,THOC1,TMEM200C,TYMS,USP14,YES1,ZFP161 chr18 14040845 14041379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 14077067 14251361 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A5P,ZNF519 chr18 14094723 14122429 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF519 chr18 14094724 14114476 Gain and loss Pancreatic cancer SNP array 17952125 ZNF519 chr18 14094724 14122429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF519 chr18 14094724 14122429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF519 chr18 14111247 14386335 Substitutions and indels small cell lung cancer array-CGH 20016488 ANKRD20A5P,CYP4F35P,ZNF519 chr18 14131001 14141500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF519 chr18 1413769 1413844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 14142998 14143075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14142998 14143075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 14157402 14342869 Loss Normal Birdsuite, version 1.5.2 22087296 ANKRD20A5P,CYP4F35P chr18 14160501 14169500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14169096 14175368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 14169096 14175368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 14169096 14195213 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD20A5P chr18 14180699 14180804 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD20A5P chr18 14180699 14180805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A5P chr18 14211269 14327326 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD20A5P chr18 14211742 14233187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A5P chr18 14212501 14215000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD20A5P chr18 14215001 14324000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD20A5P chr1 81421887 81456643 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 14233252 14962122 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD30B,CXADRP3,CYP4F35P,MIR3156-2,POTEC chr18 14241529 14241720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14243029 14294901 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 14266803 14299431 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 14267319 14292749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 81429495 81429722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14311227 18260062 Copy number Normal Quantitative Real-Time PCR 17666543 ANKRD30B,CXADRP3,CYP4F35P,LOC644669,MIR3156-2,POTEC chr18 14324001 14328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14327358 14332514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 14328001 14350000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP4F35P chr18 14331598 14332513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14350001 14351500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14351501 14382000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14367545 14369047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 14367545 14369047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 14367572 14368630 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14381912 14383782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14382001 14383500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14383501 14448000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 81438508 81456643 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 14409195 17762187 Substitutions and indels small cell lung cancer array-CGH 20016488 ANKRD30B,CXADRP3,LOC644669,MIR3156-2,POTEC chr18 14424194 14532394 Gain Non-syndromic sensorineural hearing loss BAC end sequencing 19587683 CXADRP3,POTEC chr18 14439752 14451382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 14448001 14451000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14463501 14466000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14466001 14491000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CXADRP3 chr1 81446841 81447483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81447085 81464568 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 14491001 14494500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CXADRP3 chr18 14494501 14845250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD30B,CXADRP3,MIR3156-2,POTEC chr18 14497351 14533584 Gain and loss Pancreatic cancer SNP array 17952125 CXADRP3,POTEC chr18 14521675 14521781 Gain and loss Pancreatic cancer SNP array 17952125 POTEC chr18 14521675 14521781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEC chr18 14521676 14521781 Gain and loss Pancreatic cancer SNP array 17952125 POTEC chr18 14540022 14540375 Deletion Medulloblastoma Illumina SNP arrays 21163964 POTEC chr18 14560843 14561787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14560855 14561778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 14574147 14731650 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 14603209 14604183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14603209 14604183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81460373 81460701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 14619873 14621527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 14636188 14671278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 14651644 15392409 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD30B,LOC644669,MIR3156-2 chr18 14738239 14841792 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD30B,MIR3156-2 chr18 14738239 14841792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30B,MIR3156-2 chr18 14738239 14841792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30B,MIR3156-2 chr18 14738334 14807068 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30B chr18 14749187 14749293 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30B chr18 14749187 14749293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30B chr18 14766359 14807884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30B chr18 14781962 14823499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30B chr18 14789518 14805415 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANKRD30B chr18 14789583 14831989 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30B,MIR3156-2 chr18 14793424 14819489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30B chr18 14812942 14813304 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD30B chr18 14817332 14998645 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD30B,MIR3156-2 chr18 14838711 14842419 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30B chr18 1483978 1484078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 14845251 14850500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD30B chr18 148479 203739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 USP14 chr18 148479 203739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP14 chr18 148479 203739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP14 chr18 148482 203739 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 USP14 chr18 148482 203739 Gain or loss Breast cancer - 20668451 USP14 chr18 148482 203739 Gain or loss Cancer - 20668451 USP14 chr18 148482 203739 Gain or loss Lung cancer - 20668451 USP14 chr18 148482 203739 Gain or loss Ovarian cancer - 20668451 USP14 chr18 148482 203739 Gain or loss Pancreas cancer - 20668451 USP14 chr18 148482 203739 Gain or loss Prostate cancer - 20668451 USP14 chr18 14850501 14856500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD30B chr18 14851617 14855066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD30B chr18 14851617 14855066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30B chr18 148553 202601 Gain and loss Pancreatic cancer SNP array 17952125 USP14 chr18 14856501 14858000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14858001 14981000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14892173 14926129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 81490062 81490289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81490062 81490369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 14919347 15042868 Gain Normal 244K array 17666407 NOT_FOUND chr18 14968075 15042839 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr18 14979964 15367893 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC644669 chr18 14981001 14983000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14983001 14987500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 14986988 14987101 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr18 14987501 14996500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 149885 2790825 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCYAP1,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,ENOSF1,LINC00470,METTL4,NDC80,SMCHD1,THOC1,TYMS,USP14,YES1 chr18 149885 668847 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C18orf56,CETN1,CLUL1,COLEC12,THOC1,TYMS,USP14 chr18 150000 10360000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ADCYAP1,ANKRD12,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,NDUFV2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,SMCHD1,SOGA2,TGIF1,THOC1,TMEM200C,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161 chr18 1500501 1502000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 15030955 15031006 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr18 15060298 15092282 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 15083172 15090573 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 81511548 81542580 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81511602 81511702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 15151379 15367893 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC644669 chr18 15157665 15176048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 81517197 81538028 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81524016 81524133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 81524130 81524291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 15244415 15262072 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 15244415 15262072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 15244415 15262306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 1527213 1572099 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 15303555 15316008 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC644669 chr18 15303555 15316008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC644669 chr18 15303555 15316008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC644669 chr18 15310839 15310943 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 15310839 15310943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 15312149 15320281 Gain and loss Pancreatic cancer SNP array 17952125 LOC644669 chr18 15371501 15386500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 15386501 15392000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 15392001 16083000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 15400000 17200000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 NOT_FOUND chr18 1543 112470 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ROCK1P1 chr1 81544439 82232307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81544439 82232307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 1548037 1548107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 81555951 81562387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 81585049 81604121 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81586454 81640067 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 1 587750 Deletion Cancer Affymetrix 250K Sty array 20164920 CETN1,COLEC12,ROCK1P1,THOC1,USP14 chr18 1 59800000 Gain Follicular lymphoma aCGH 20505157 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf8,CABLES1,CABYR,CBX3P2,CCBE1,CCDC11,CCDC68,CDH2,CDH20,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FECH,FHOD3,GALNT1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KIAA1328,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100506888,LOC100652770,LOC284260,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,SCARNA17,SEC11C,SEH1L,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TMEM200C,TMEM241,TPGS2,TRAPPC8,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,WBP11P1,WDR7,YES1,ZBTB7C,ZFP161,ZNF24,ZNF271,ZNF396,ZNF397,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 16078151 16799200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 16083001 16771000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 16100000 17739450 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 16100000 18025587 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 16100000 23300000 Gain Cancer array-based techniques 21183584 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 16100000 23300000 Loss Cancer array-based techniques 21183584 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 16100000 76117153 Deletion 18q deletion syndrome aCGH 19533772 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer Array CGH 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer CGH 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer Digital SNP analysis (8p and 18q) 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer Karyotyping 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer MS markers (18q, 17p, and 5q) 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer MS markers (18q, 17p, and 8p) 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer MS markers (18q) 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer MS markers (18q, 8p, and 4p) 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer MS markers(to 3p, 4p, 5q, 8p, 9p, 13q, 17p, and 18q) 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Colorectal cancer SNP array 20709793 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Deletion Pancreatic cancer quantitative-PCR and fluorescent in-situ hybridization 21811562 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Gain Mucosa-associated lymphoid tissue lymphomas arrayCGH 21459788 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Gain or loss Endometrial cancer CGH 22040021 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Increased Pancreatic cancer quantitative-PCR and fluorescent in-situ hybridization 21811562 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Loss Breast cancer aCGH 21264507 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Loss colon cancer comparative genomic hybridization 17210682 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Loss Glioblastoma multiforme aCGH 21080181 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Loss Glioblastoma multiforme conventional CGH 21080181 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 16100000 76117153 Loss Oligodendroglial tumors CGH 17285580 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr1 81612973 81659560 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81612973 81666206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81616094 81659560 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81618552 81666206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81630470 81666206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81664729 81665878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 16765037 25916572 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABHD3,ANKRD29,AQP4,C18orf8,CABLES1,CABYR,CDH2,CHST9,CHST9-AS1,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,KCTD1,LAMA3,LOC728606,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,PSMA8,RBBP8,RIOK3,ROCK1,SNRPD1,SS18,TAF4B,TMEM241,TTC39C,ZNF521 chr18 16765037 54172978 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABHD3,ACAA2,ANKRD29,AQP4,ASXL3,ATP5A1,B4GALT6,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf8,CABLES1,CABYR,CCDC11,CCDC68,CDH2,CELF4,CHST9,CHST9-AS1,CTAGE1,CTIF,CXXC1,DCC,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FHOD3,GALNT1,GATA6,GREB1L,HAUS1,HDHD2,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KIAA1328,KLHL14,LAMA3,LINC00669,LIPG,LOC100287225,LOC100505474,LOC100506888,LOC100652770,LOC284260,LOC728606,LOC729950,LOXHD1,MAPK4,MAPRE2,MBD1,MBD2,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NOL4,NPC1,OSBPL1A,PIAS2,PIK3C3,POLI,PSMA8,PSTPIP2,RAB27B,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,SCARNA17,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SS18,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TMEM241,TPGS2,TRAPPC8,TTC39C,TTR,WBP11P1,ZBTB7C,ZNF24,ZNF271,ZNF396,ZNF397,ZNF521,ZSCAN30 chr18 16771001 16774500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 16772000 16794399 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr18 16783351 16879364 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 16783699 16945810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 16783699 16945810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 16783700 16945810 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 16787533 16944869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 81679539 81681175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 16795645 16926960 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr18 168383 75965502 Gain and loss Barrett's syndrome BAC array 19417022 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 168405 14998642 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 16879285 16879434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 16896342 16896432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 16954384 16954464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 16954384 16954464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 1700000 11900000 Duplication abnormal development HR-CGH, Array-CGH 18461090 ANKRD12,APCDD1,ARHGAP28,C18orf42,CBX3P2,CHMP1B,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,GNAL,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,SMCHD1,SOGA2,TGIF1,TMEM200C,TWSG1,TXNDC2,VAPA,ZFP161 chr18 170000 9770000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ADCYAP1,ANKRD12,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,NDUFV2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,SMCHD1,SOGA2,TGIF1,THOC1,TMEM200C,TWSG1,TYMS,USP14,YES1,ZFP161 chr18 170229 76083117 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 170229 76083229 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 17076200 17356787 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 17076201 17342674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17076317 17342618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17076317 17342618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 1 7100000 Amplification head and neck squamous cell carcinoma CGH 17671120 ADCYAP1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,ROCK1P1,SMCHD1,TGIF1,THOC1,TMEM200C,TYMS,USP14,YES1,ZFP161 chr18 1 7100000 Loss Myofibroblastic sarcoma CGH 19369631 ADCYAP1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,ROCK1P1,SMCHD1,TGIF1,THOC1,TMEM200C,TYMS,USP14,YES1,ZFP161 chr18 1 7100000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ADCYAP1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,ROCK1P1,SMCHD1,TGIF1,THOC1,TMEM200C,TYMS,USP14,YES1,ZFP161 chr18 1712045 1830428 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 17131449 17144202 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr18 1715758 1828100 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr18 1715758 1832188 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr18 17200000 19000000 Amplification head and neck squamous cell carcinoma CGH 17671120 GREB1L,ROCK1 chr18 17200000 19000000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 GREB1L,ROCK1 chr18 17200000 19000000 Deletion Sudden cardiac death CGH 19188705 GREB1L,ROCK1 chr18 17200000 43500000 Deletion Hepatocellular carcinoma Array CGH 16750200 ABHD3,ANKRD29,AQP4,ASXL3,B4GALT6,C18orf21,C18orf34,C18orf8,CABLES1,CABYR,CDH2,CELF4,CHST9,CHST9-AS1,CTAGE1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,ELP2,EPG5,ESCO1,FAM59A,FHOD3,GALNT1,GATA6,GREB1L,HRH4,IMPACT,INO80C,KC6,KCTD1,KIAA1328,KLHL14,LAMA3,LINC00669,LOC100652770,LOC284260,LOC728606,LOC729950,MAPRE2,MEP1B,MIB1,MIR1-2,MIR133A1,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3975,MIR4318,MIR4319,MIR4741,MIR5583-1,MIR5583-2,MOCOS,NOL4,NPC1,OSBPL1A,PIK3C3,PSMA8,RBBP8,RIOK3,RIT2,RNF125,RNF138,ROCK1,RPRD1A,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SNRPD1,SS18,SYT4,TAF4B,TMEM241,TPGS2,TRAPPC8,TTC39C,TTR,WBP11P1,ZNF24,ZNF271,ZNF396,ZNF397,ZNF521,ZSCAN30 chr18 17200000 73100000 Loss Prostate cancer Array CGH 16573809 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284294,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF521,ZNF532,ZSCAN30 chr18 17200000 78077248 Deletion Autism Affymetrix Mapping 10K GeneChip 16446308 ABHD3,ACAA2,ADNP2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,TXNL4A,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 17200000 78077248 Deletion Colorectal cancer GISTIC software 19359472 ABHD3,ACAA2,ADNP2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,TXNL4A,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 17200000 78077248 Gain Gastrointestinal stromal cancer array CGH 16982739 ABHD3,ACAA2,ADNP2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,TXNL4A,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 17200000 78077248 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD3,ACAA2,ADNP2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,TXNL4A,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 17200000 78077248 Loss Human rectal carcinomas oligonucleotide arrays 16397240 ABHD3,ACAA2,ADNP2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,TXNL4A,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 17200000 78077248 Loss Medulloblastoma Array CGH 18056178 ABHD3,ACAA2,ADNP2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,TXNL4A,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 1 7200000 Duplication Heart disease Illumina 630Quad Beadchip platform 21282601 ADCYAP1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,ROCK1P1,SMCHD1,TGIF1,THOC1,TMEM200C,TYMS,USP14,YES1,ZFP161 chr1 8172471 8175417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 8172675 8217840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 17274438 18073471 Gain and loss Barrett's syndrome BAC array 19417022 NOT_FOUND chr18 17281353 17753073 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr18 17284612 17284715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17300000 23300000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 17300000 23300000 Copy number Normal - 20680643 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 17300000 23300000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 17300000 23300000 Gain Malignant fibrous histiocytomas aCGH 21085701 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 17300000 23300000 Gain Multiple myeloma CGH, FISH 16461302 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 17300000 23300000 Loss Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 17300000 76117153 Copy number Cancer ICA method 16751803 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 17300000 76117153 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 17300000 76117153 Loss Metanephric adenoma Oligo aCGH 20802469 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 17308557 17353374 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 17334726 17396201 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 17350564 17356780 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17363259 17434691 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 17363262 17434843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17363262 17434843 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17363262 17434843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81737180 81759046 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81740043 81740750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17446258 17464202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17446258 17464202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17446258 17464206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17484856 17538724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17484856 17538724 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17484856 17538724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17517469 17517556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17517486 17517553 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17517486 17517553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81752320 81752440 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 17538915 17704910 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 17538915 17704910 Gain or loss Cancer - 20668451 NOT_FOUND chr18 17538915 17704910 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 17538915 17704910 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 17538915 17704910 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 17538915 17704910 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 81754476 81754558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 17545976 17546078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17558078 17558186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17558078 17558188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17575355 17702776 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17575543 17704912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17575543 17704912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 1 76117153 Deletion,amplification,duplication Normal Affymetrix 250K SNP array 21412953 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Deletion Medulloblastoma SNP arrays 21979893 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Deletion Normal - 20616218 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Duplication Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Gain Ewing's sarcoma CGH(Reference) 21437220 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Gain Medulloblastoma SNP arrays 21979893 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Gain Normal - 21541734 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Indels Normal Affymetrix 6.0 array 21223598 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1118K arrays 21546498 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1132K arrays 21546498 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1136K arrays 21546498 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Loss Esophageal squamous carcinoma CGH 21637470 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Loss Glioblastoma multiforme aCGH 21080181 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 1 76117153 Loss Glioblastoma multiforme conventional CGH 21080181 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 17627842 17628111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17627842 17628111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17650509 17685513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 17651582 17651787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17651583 17651787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17651583 17651787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17659657 17659744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17659657 17659744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17662963 17663047 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17662963 17663047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17713760 17713863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 81772256 81819771 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 17749667 22797232 Amplification Cancer Affymetrix 250K Sty array 20164920 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C,ZNF521 chr18 17762942 17763053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17762942 17763053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17762944 17763053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17767395 76117153 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr1 81778315 81778400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 17794465 18308835 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr18 1 78077248 Copy number Trisomy 18 syndrome references 17576883 ABHD3,ACAA2,ADCYAP1,ADNP2,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTDP1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PQLC1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TXNL4A,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 17816258 17817041 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 17824645 17931737 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr18 17824645 17931737 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 17824645 17931737 Gain or loss Cancer - 20668451 NOT_FOUND chr18 17824645 17931737 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 17824645 17931737 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 17824645 17931737 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 17824645 17931737 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr1 81786178 81786278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 17877315 17877377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17908960 76089909 Loss Barrett's syndrome BAC array 19417022 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr1 81791693 81804191 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 17917076 17950569 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 81792802 81810100 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 17928102 17928958 Loss or gain Normal 244K array 17666407 NOT_FOUND chr18 17945381 17945440 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr18 17947474 18040783 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 NOT_FOUND chr18 17948663 21417140 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD3,ANKRD29,C18orf8,CABLES1,CTAGE1,ESCO1,GATA6,GREB1L,LAMA3,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR4741,NPC1,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241 chr1 81795394 81796105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 81795394 81796105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 17964562 17964688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 17964562 17964688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 18003413 18036225 Copy number Gastric cancer Human cDNA microarrays 17229543 NOT_FOUND chr18 18003413 18036225 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr18 18003414 18036225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 18003414 18036225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18003414 18036225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 18014071 18014173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 18014071 18014177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18014073 18014176 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18051134 56482013 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1115K arrays 21546498 ABHD3,ACAA2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf8,CABLES1,CABYR,CCDC11,CCDC68,CDH2,CELF4,CHST9,CHST9-AS1,CTAGE1,CTIF,CXXC1,DCC,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FECH,FHOD3,GALNT1,GATA6,GREB1L,HAUS1,HDHD2,HRH4,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KIAA1328,KLHL14,LAMA3,LINC-ROR,LINC00669,LIPG,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOC100652770,LOC284260,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NOL4,NPC1,ONECUT2,OSBPL1A,PIAS2,PIK3C3,POLI,PSMA8,PSTPIP2,RAB27B,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF165,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,SCARNA17,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TMEM241,TPGS2,TRAPPC8,TTC39C,TTR,TXNL1,WBP11P1,WDR7,ZBTB7C,ZNF24,ZNF271,ZNF396,ZNF397,ZNF521,ZSCAN30 chr1 81805153 81805253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 18094539 18094636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18094539 18094636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 18100000 22050000 Loss Acute lymphoblastic leukemia - 21339820 ABHD3,ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,LAMA3,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,ROCK1,SNRPD1,TMEM241,TTC39C chr18 18180001 18280000 Amplification Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 NOT_FOUND chr18 18248591 18248815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18248591 18248815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 18249507 18251772 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18249507 18251772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 1825566 1831224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 1826544 1832005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 18279202 18281033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 1830451 1830664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1830622 1830669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1830656 1830883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 18308209 18319963 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 81834430 81834779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 18355324 18389305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 18361348 18385855 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 18362119 18390057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 18363427 18391202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 18376150 18386288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 18378569 18393418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 1841994 1842296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 18420426 18421057 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18426316 18460345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 18456540 18456593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 18459666 18505443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 18463742 20176616 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ABHD3,CTAGE1,ESCO1,GATA6,GREB1L,MIB1,MIR1-2,MIR133A1,MIR320C1,ROCK1,SNRPD1 chr18 18481543 18481649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18481543 18481649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 1 8500000 Loss Acute lymphoblastic leukemia array CGH 17690704 ADCYAP1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,PTPRM,ROCK1P1,SMCHD1,TGIF1,THOC1,TMEM200C,TYMS,USP14,YES1,ZFP161 chr18 18518106 18518138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 81852298 81966473 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr18 18529700 18691811 Deletion Prostate cancer aCGH 22341455 ROCK1 chr18 18551226 18551308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROCK1 chr18 1855671 1858431 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr1 81855784 81855984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 81857837 81857887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 18586267 18717349 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ROCK1 chr18 18734801 18761840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 1876130 1876225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 18767292 18860447 Gain or loss Breast cancer - 20668451 GREB1L chr18 18767292 18860447 Gain or loss Cancer - 20668451 GREB1L chr18 18767292 18860447 Gain or loss Lung cancer - 20668451 GREB1L chr18 18767292 18860447 Gain or loss Ovarian cancer - 20668451 GREB1L chr18 18767292 18860447 Gain or loss Pancreas cancer - 20668451 GREB1L chr18 18767292 18860447 Gain or loss Prostate cancer - 20668451 GREB1L chr18 18767293 18860438 Gain and loss Pancreatic cancer SNP array 17952125 GREB1L chr18 18767293 18860447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GREB1L chr18 18767293 18860447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1L chr1 81877476 82177169 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 18822202 19102790 Deletion Prostate cancer aCGH 22341455 GREB1L chr18 18822711 18822806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GREB1L chr18 1 88250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 18838520 18838823 Gain and loss Pancreatic cancer SNP array 17952125 GREB1L chr18 18838520 18838823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1L chr18 18858557 18858664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1L chr18 18858558 18858662 Gain and loss Pancreatic cancer SNP array 17952125 GREB1L chr18 18858558 18858662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1L chr18 18883265 18883365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GREB1L chr18 18905068 18910922 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 GREB1L chr1 8189081 8189244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 1895191 1970590 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 1895191 1976220 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 18968525 19094432 Gain or loss Breast cancer - 20668451 GREB1L chr18 18968525 19094432 Gain or loss Cancer - 20668451 GREB1L chr18 18968525 19094432 Gain or loss Lung cancer - 20668451 GREB1L chr18 18968525 19094432 Gain or loss Ovarian cancer - 20668451 GREB1L chr18 18968525 19094432 Gain or loss Pancreas cancer - 20668451 GREB1L chr18 18968525 19094432 Gain or loss Prostate cancer - 20668451 GREB1L chr18 18969725 19092614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GREB1L chr18 18969725 19092614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1L chr18 18970325 19092614 Gain and loss Pancreatic cancer SNP array 17952125 GREB1L chr18 18970397 18970474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1L chr18 19000000 25000000 Deletion Sudden cardiac death CGH 19188705 ABHD3,ANKRD29,AQP4,C18orf8,CABLES1,CABYR,CHST9,CHST9-AS1,CTAGE1,ESCO1,GATA6,GREB1L,HRH4,IMPACT,KCTD1,LAMA3,LOC728606,LOC729950,MIB1,MIR1-2,MIR133A1,MIR320C1,MIR320C2,MIR4741,NPC1,OSBPL1A,PSMA8,RBBP8,RIOK3,SNRPD1,SS18,TAF4B,TMEM241,TTC39C,ZNF521 chr18 19000000 32700000 Loss Breast cancer Microarray-based CGH 17133270 ABHD3,ANKRD29,AQP4,ASXL3,B4GALT6,C18orf34,C18orf8,CABLES1,CABYR,CDH2,CHST9,CHST9-AS1,CTAGE1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,ESCO1,FAM59A,GATA6,GREB1L,HRH4,IMPACT,KCTD1,KLHL14,LAMA3,LOC100652770,LOC728606,LOC729950,MAPRE2,MEP1B,MIB1,MIR1-2,MIR133A1,MIR302F,MIR320C1,MIR320C2,MIR4741,NOL4,NPC1,OSBPL1A,PSMA8,RBBP8,RIOK3,RNF125,RNF138,SLC25A52,SNRPD1,SS18,TAF4B,TMEM241,TRAPPC8,TTC39C,TTR,WBP11P1,ZNF521 chr18 19000000 78077248 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 ABHD3,ACAA2,ADNP2,ALPK2,ANKRD29,AQP4,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOC729950,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSMA8,PSTPIP2,RAB27B,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TXNL1,TXNL4A,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 19024430 19181612 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ESCO1,GREB1L chr18 1902470 1902570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19037930 19187865 Loss Normal 244K array 17666407 ESCO1,GREB1L chr18 19041059 19041159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GREB1L chr1 81906333 81906423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 1909888 1943485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 19109261 19180692 Deletion Prostate cancer aCGH 22341455 ESCO1 chr18 19121593 19121693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESCO1 chr18 19129975 19271923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD3,ESCO1,MIR320C1,SNRPD1 chr18 19129975 19271923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD3,ESCO1,MIR320C1,SNRPD1 chr18 19129979 19271923 Gain and loss Pancreatic cancer SNP array 17952125 ABHD3,ESCO1,MIR320C1,SNRPD1 chr18 19181695 19181762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19192259 19210207 Deletion Prostate cancer aCGH 22341455 SNRPD1 chr18 1919746 1919846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19230857 19284765 Deletion Prostate cancer aCGH 22341455 ABHD3,MIR320C1 chr18 19235668 20027484 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD3,CTAGE1,GATA6,MIB1,MIR1-2,MIR133A1,MIR320C1 chr18 19241142 19241242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABHD3 chr18 1924932 4054644 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CBX3P2,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,EMILIN2,LOC727896,LPIN2,METTL4,MYL12A,MYL12B,MYOM1,NDC80,SMCHD1,TGIF1 chr18 19251951 19903282 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ABHD3,GATA6,MIB1,MIR1-2,MIR133A1,MIR320C1 chr18 19285683 19285783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19286785 19317099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19286785 19317099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19287254 19317031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 19290333 19290427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 19290333 19290429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19290334 19290426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 81929415 81929515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19321544 19450913 Deletion Prostate cancer aCGH 22341455 MIB1,MIR1-2,MIR133A1 chr18 19327744 19327835 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIB1 chr1 81933093 81933176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19337459 19365742 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MIB1 chr18 19337460 19365744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIB1 chr18 19337460 19365744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIB1 chr18 19337471 19365740 Gain and loss Pancreatic cancer SNP array 17952125 MIB1 chr18 19365463 19420426 Gain and loss Pancreatic cancer SNP array 17952125 MIB1,MIR1-2,MIR133A1 chr18 19365463 19420468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIB1,MIR1-2,MIR133A1 chr18 19365463 19420468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIB1,MIR1-2,MIR133A1 chr1 81938042 82230695 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 81938042 82230695 Gain or loss Cancer - 20668451 NOT_FOUND chr1 81938042 82230695 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 81938042 82230695 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 81938042 82230695 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 81938042 82230695 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 19382629 19382720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIB1 chr18 19408964 19409048 Deletion Prostate cancer aCGH 22341455 MIB1,MIR1-2 chr18 19415978 19416083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIB1 chr18 19415980 19416083 Gain and loss Pancreatic cancer SNP array 17952125 MIB1 chr18 19415982 19416083 Gain and loss Pancreatic cancer SNP array 17952125 MIB1 chr18 19433975 19496847 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MIB1 chr18 19433978 19496849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIB1 chr18 19433978 19496849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIB1 chr18 19434008 19496849 Gain and loss Pancreatic cancer SNP array 17952125 MIB1 chr18 19445672 19445825 Gain and loss Pancreatic cancer SNP array 17952125 MIB1 chr18 19445672 19445825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIB1 chr18 19489548 19489598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19523559 19789027 Insertion Idiopathic hypereosinophilic syndrome References 22138850 GATA6 chr18 19523560 19789025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATA6 chr18 19523560 19789025 Gain and loss Pancreatic cancer SNP array 17952125 GATA6 chr18 19523560 19789025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATA6 chr18 19539947 19540047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19543782 19544249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19543782 19544255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 1955951 1990972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 19559516 19559616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19583575 21170719 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C18orf8,CABLES1,CTAGE1,GATA6,MIR4741,NPC1,RBBP8,RIOK3,TMEM241 chr1 819590 3259116 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ACAP3,ACTRT2,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LOC100129534,LOC100130417,LOC100133445,LOC115110,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TTC34,TTLL10,UBE2J2,VWA1 chr1 819590 3651868 Loss or gain Non-syndromic sensorineural hearing loss array CGH 18496225 ACAP3,ACTRT2,AGRN,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LOC100129534,LOC100130417,LOC100133445,LOC115110,LOC148413,LOC254099,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TP73,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WRAP73 chr1 81960612 81961343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19624317 19624386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19660000 20500000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 CTAGE1,GATA6 chr18 197031 197706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP14 chr18 19728077 19728168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19741828 19776743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GATA6 chr18 19743151 19743251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19744977 19745119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 19749415 19782226 Deletion Prostate cancer aCGH 22341455 GATA6 chr18 19749481 19828457 Indels Normal Affymetrix and Illumina arrays 20811451 GATA6 chr1 81981139 81981239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19826415 19826515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19826735 19966989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19826735 19966989 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 19826735 19966989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19836827 21748443 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD29,C18orf8,CABLES1,CABYR,CTAGE1,LAMA3,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,TMEM241,TTC39C chr18 19838332 19838432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 19848382 19854249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19848382 19854249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 19848382 19854249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19880163 19881317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 19950786 19968058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19958132 19958247 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 19958132 19958247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19960391 19969606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 19963675 19969606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 19972940 19995562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTAGE1 chr18 19972940 19995562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTAGE1 chr18 19972953 19995562 Gain and loss Pancreatic cancer SNP array 17952125 CTAGE1 chr18 19996008 20231788 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CTAGE1 chr18 19996011 20231788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTAGE1 chr18 19996011 20231788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTAGE1 chr18 19996011 20231831 Gain and loss Pancreatic cancer SNP array 17952125 CTAGE1 chr18 20004465 20004585 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20004467 20004585 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20004467 20004585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20013003 20013253 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20013003 20013253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20014942 20015042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2001790 2001953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20027954 20047108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 20052262 20052366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20052266 20052366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 8200761 8200913 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 8200761 8200920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20099709 20099806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20122880 20122956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20122880 20122956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20137774 20137866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20142492 20142577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20155501 20160400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 20155648 20155697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20178701 21064617 Deletion Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 CABLES1,MIR4741,RBBP8,RIOK3,TMEM241 chr18 20180862 20180953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20244741 20246045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 20260680 20287490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20260680 20287490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20260680 20287490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20263462 20263569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20263467 20263571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20263471 20263569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20290633 20290733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20294591 20311567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20294591 20313918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20294591 20313918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20300000 23537000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 ANKRD29,C18orf8,CABLES1,CABYR,HRH4,IMPACT,LAMA3,LOC729950,MIR320C2,MIR4741,NPC1,OSBPL1A,RBBP8,RIOK3,TMEM241,TTC39C,ZNF521 chr18 20303265 20303357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20323531 20323631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20328125 20362869 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 20341056 20342896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20349248 20363360 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 20354697 20354797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20356394 20356869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20403798 20403972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2041135 2041167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20438 83259 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr18 204519 258059 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 THOC1,USP14 chr18 204527 258049 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 THOC1,USP14 chr18 204527 258049 Gain and loss Pancreatic cancer SNP array 17952125 THOC1,USP14 chr18 204527 258059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THOC1,USP14 chr18 204527 258059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THOC1,USP14 chr18 20453262 20548078 Gain and loss Pancreatic cancer SNP array 17952125 MIR4741,RBBP8 chr18 2046367 2046467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20513294 20606448 Deletion Prostate cancer aCGH 22341455 MIR4741,RBBP8 chr18 20636383 20636509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2067907 2497114 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1114K arrays 21546498 NOT_FOUND chr18 20691186 20697540 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr18 20714527 20840433 Deletion Prostate cancer aCGH 22341455 CABLES1 chr18 20773463 20773622 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CABLES1 chr18 20818009 20818009 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CABLES1 chr18 20839509 21648403 Deletion Breast cancer FISH 17142309 ANKRD29,C18orf8,CABLES1,LAMA3,NPC1,RIOK3,TMEM241,TTC39C chr18 20850374 20851166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 20850396 20851166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 20853457 20853547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 20875976 21017924 Deletion Prostate cancer aCGH 22341455 TMEM241 chr18 20879815 20879894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM241 chr18 20895889 21186114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD29,C18orf8,NPC1,RIOK3,TMEM241 chr18 20895889 21186114 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD29,C18orf8,NPC1,RIOK3,TMEM241 chr18 20895889 21186114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD29,C18orf8,NPC1,RIOK3,TMEM241 chr1 8209280 8209339 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 210071 10407527 Loss Developmental delay affymetrix genechip 500K/SNP 6.74 array 21147756 ADCYAP1,ANKRD12,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,NDUFV2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,SMCHD1,SOGA2,TGIF1,THOC1,TMEM200C,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161 chr18 210071 1055350 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ADCYAP1,C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,THOC1,TYMS,USP14,YES1 chr18 210071 15096727 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,THOC1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,USP14,VAPA,YES1,ZFP161,ZNF519 chr18 210071 5687093 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADCYAP1,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,LINC00470,LINC00526,LINC00667,LOC727896,LPIN2,METTL4,MYL12A,MYL12B,MYOM1,NDC80,SMCHD1,TGIF1,THOC1,TYMS,USP14,YES1,ZFP161 chr18 210071 76115554 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 210071 804990 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,THOC1,TYMS,USP14,YES1 chr18 210233 210327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP14 chr18 21032786 21063100 Deletion Prostate cancer aCGH 22341455 RIOK3 chr18 21083461 21111745 Deletion Prostate cancer aCGH 22341455 C18orf8,NPC1 chr18 21111462 21166580 Deletion Prostate cancer aCGH 22341455 C18orf8,NPC1 chr18 21146479 21146802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPC1 chr18 21155351 21155451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPC1 chr18 21179976 21242848 Deletion Prostate cancer aCGH 22341455 ANKRD29 chr18 21269561 21535029 Deletion Prostate cancer aCGH 22341455 LAMA3 chr18 21447753 21828206 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CABYR,LAMA3,OSBPL1A,TTC39C chr18 21459612 21459702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMA3 chr18 21474866 21474962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMA3 chr18 21481755 21481855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMA3 chr18 21484895 21484995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMA3 chr18 21519074 21519174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMA3 chr18 21567062 22176091 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CABYR,HRH4,IMPACT,MIR320C2,OSBPL1A,TTC39C chr18 21572736 21715573 Deletion Prostate cancer aCGH 22341455 TTC39C chr18 21573018 21573118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC39C chr18 21652196 21652494 Gain and loss Pancreatic cancer SNP array 17952125 TTC39C chr18 21652196 21652494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC39C chr18 21652198 21652494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC39C chr18 21669104 21669204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC39C chr18 21669312 21700649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC39C chr1 82168775 82168875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 21717596 21717628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 21718954 21741563 Deletion Prostate cancer aCGH 22341455 CABYR chr18 21727580 21727648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CABYR chr18 21740000 33130000 Loss Acute lymphoblastic leukemia - 21339820 AQP4,ASXL3,B4GALT6,C18orf34,CABYR,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,FAM59A,HRH4,IMPACT,INO80C,KCTD1,KLHL14,LOC100652770,LOC728606,LOC729950,MAPRE2,MEP1B,MIR302F,MIR320C2,NOL4,OSBPL1A,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1,ZNF24,ZNF271,ZNF396,ZNF397,ZNF521,ZSCAN30 chr18 21742008 21977789 Deletion Prostate cancer aCGH 22341455 MIR320C2,OSBPL1A chr18 21850214 21924609 Gain or loss Breast cancer - 20668451 MIR320C2,OSBPL1A chr18 21850214 21924609 Gain or loss Cancer - 20668451 MIR320C2,OSBPL1A chr18 21850214 21924609 Gain or loss Lung cancer - 20668451 MIR320C2,OSBPL1A chr18 21850214 21924609 Gain or loss Ovarian cancer - 20668451 MIR320C2,OSBPL1A chr18 21850214 21924609 Gain or loss Pancreas cancer - 20668451 MIR320C2,OSBPL1A chr18 21850214 21924609 Gain or loss Prostate cancer - 20668451 MIR320C2,OSBPL1A chr18 21850214 21924609 Translate Synovial sarcoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 MIR320C2,OSBPL1A chr18 21850217 21924609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR320C2,OSBPL1A chr18 21850217 21924609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR320C2,OSBPL1A chr18 21850576 21924540 Gain and loss Pancreatic cancer SNP array 17952125 MIR320C2,OSBPL1A chr18 21864349 21922529 Amplification or deletion Cancer Array CGH 17440070 MIR320C2,OSBPL1A chr18 21896523 23306473 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 HRH4,IMPACT,LOC729950,MIR320C2,OSBPL1A,ZNF521 chr18 21951693 21986289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OSBPL1A chr18 21955473 21957908 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL1A chr18 21960383 21960982 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL1A chr18 21967814 22027317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IMPACT,OSBPL1A chr18 21967814 22027317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IMPACT,OSBPL1A chr18 21967829 22027317 Gain and loss Pancreatic cancer SNP array 17952125 IMPACT,OSBPL1A chr18 21995198 22033246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IMPACT chr18 22000600 22015304 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IMPACT chr18 22001804 22005320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 22001856 22005785 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 22004401 22005273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 22004685 22005248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 22006608 22033494 Deletion Prostate cancer aCGH 22341455 IMPACT chr18 22010000 41410000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 AQP4,ASXL3,B4GALT6,C18orf21,C18orf34,CDH2,CELF4,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,ELP2,FAM59A,FHOD3,GALNT1,HRH4,IMPACT,INO80C,KC6,KCTD1,KIAA1328,KLHL14,LINC00669,LOC100652770,LOC284260,LOC728606,LOC729950,MAPRE2,MEP1B,MIR187,MIR302F,MIR3975,MIR4318,MIR5583-1,MIR5583-2,MOCOS,NOL4,PIK3C3,PSMA8,RIT2,RNF125,RNF138,RPRD1A,SLC25A52,SLC39A6,SS18,SYT4,TAF4B,TPGS2,TRAPPC8,TTR,WBP11P1,ZNF24,ZNF271,ZNF396,ZNF397,ZNF521,ZSCAN30 chr18 22018116 22020426 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IMPACT chr18 22018316 22032151 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 IMPACT chr18 22040592 22059920 Deletion Prostate cancer aCGH 22341455 HRH4 chr18 22060407 22225640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC729950 chr18 22060407 22225640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729950 chr18 2206041 2476843 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 22061094 22223974 Gain and loss Pancreatic cancer SNP array 17952125 LOC729950 chr1 82206814 82233387 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 22116085 22479962 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 LOC729950 chr18 22133147 22133217 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 22133147 22133217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 2215886 2215936 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 22180833 22180933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 22200263 22200368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 22200263 22200368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 22240586 22240688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC729950 chr18 22288872 22463204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 22288872 22463204 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 22288872 22463204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 22328264 22328363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 22361000 76900000 LOH Colorectal cancer 50 K SNP array 21297112 ACAA2,ALPK2,AQP4,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR302F,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF521,ZNF532,ZSCAN30 chr18 22381001 22385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 22387727 22397875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 22388022 22388435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 22430481 24373058 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KCTD1,LOC728606,PSMA8,SS18,TAF4B,ZNF521 chr18 22433368 22434304 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 22433368 22434304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 22455831 23184485 LOH Normal High-resolution SNP genotyping 21211785 ZNF521 chr18 22466602 22466702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 22523278 22523491 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 22523279 22523491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 22532202 22532276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 22585487 22585587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 22619901 22620131 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 22641887 22932213 Deletion Prostate cancer aCGH 22341455 ZNF521 chr18 22686008 22699714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF521 chr18 22686008 22699714 Gain and loss Pancreatic cancer SNP array 17952125 ZNF521 chr18 22686008 22699714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF521 chr18 22749628 23019279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF521 chr18 22749628 23019279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF521 chr18 22749660 23019279 Gain and loss Pancreatic cancer SNP array 17952125 ZNF521 chr18 22764740 22768327 Gain and loss Pancreatic cancer SNP array 17952125 ZNF521 chr18 22780257 22780317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF521 chr18 22825619 22826337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF521 chr18 22885987 22886087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF521 chr18 22886856 22886956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF521 chr18 22974104 22974202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 22977712 23010289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 22990287 26633241 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AQP4,CDH2,CHST9,CHST9-AS1,KCTD1,LOC728606,PSMA8,SS18,TAF4B chr18 230074 275087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THOC1 chr18 2304233 2304333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23045585 23045868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 23094989 23095027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23098579 23098679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23117612 23117712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 82311852 82312018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPHN2 chr1 82311998 82312047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPHN2 chr1 82312046 82312223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPHN2 chr18 23235504 23235603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2326651 2353219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 23286558 23287619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 23286570 23287477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 23300000 31000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AQP4,B4GALT6,C18orf34,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KCTD1,KLHL14,LOC100652770,LOC728606,MEP1B,MIR302F,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1 chr18 23300000 31000000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AQP4,B4GALT6,C18orf34,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KCTD1,KLHL14,LOC100652770,LOC728606,MEP1B,MIR302F,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1 chr18 23300000 31000000 Copy number Normal - 20680643 AQP4,B4GALT6,C18orf34,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KCTD1,KLHL14,LOC100652770,LOC728606,MEP1B,MIR302F,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1 chr18 23300000 31000000 Deletion Normal Refference 21823210 AQP4,B4GALT6,C18orf34,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KCTD1,KLHL14,LOC100652770,LOC728606,MEP1B,MIR302F,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1 chr18 23300000 31000000 Deletion Splenic marginal zone lymphoma BAC CGH array 21957467 AQP4,B4GALT6,C18orf34,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KCTD1,KLHL14,LOC100652770,LOC728606,MEP1B,MIR302F,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1 chr18 23300000 31000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AQP4,B4GALT6,C18orf34,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KCTD1,KLHL14,LOC100652770,LOC728606,MEP1B,MIR302F,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1 chr18 23300000 31000000 Gain Multiple myeloma CGH, FISH 16461302 AQP4,B4GALT6,C18orf34,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KCTD1,KLHL14,LOC100652770,LOC728606,MEP1B,MIR302F,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1 chr18 23300000 31000000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 AQP4,B4GALT6,C18orf34,CDH2,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KCTD1,KLHL14,LOC100652770,LOC728606,MEP1B,MIR302F,PSMA8,RNF125,RNF138,SLC25A52,SS18,TAF4B,TRAPPC8,TTR,WBP11P1 chr18 23300000 41800000 Deletion Colorectal cancer CGH 20709793 AQP4,ASXL3,B4GALT6,C18orf21,C18orf34,CDH2,CELF4,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,ELP2,FAM59A,FHOD3,GALNT1,INO80C,KC6,KCTD1,KIAA1328,KLHL14,LINC00669,LOC100652770,LOC284260,LOC728606,MAPRE2,MEP1B,MIR187,MIR302F,MIR3975,MIR4318,MIR5583-1,MIR5583-2,MOCOS,NOL4,PIK3C3,PSMA8,RIT2,RNF125,RNF138,RPRD1A,SLC25A52,SLC39A6,SS18,SYT4,TAF4B,TPGS2,TRAPPC8,TTR,WBP11P1,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 23300000 41800000 Gain Cancer array-based techniques 21183584 AQP4,ASXL3,B4GALT6,C18orf21,C18orf34,CDH2,CELF4,CHST9,CHST9-AS1,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,ELP2,FAM59A,FHOD3,GALNT1,INO80C,KC6,KCTD1,KIAA1328,KLHL14,LINC00669,LOC100652770,LOC284260,LOC728606,MAPRE2,MEP1B,MIR187,MIR302F,MIR3975,MIR4318,MIR5583-1,MIR5583-2,MOCOS,NOL4,PIK3C3,PSMA8,RIT2,RNF125,RNF138,RPRD1A,SLC25A52,SLC39A6,SS18,SYT4,TAF4B,TPGS2,TRAPPC8,TTR,WBP11P1,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 23300000 71300000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACAA2,ALPK2,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CPLX4,CTIF,CXXC1,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FECH,FHOD3,GALNT1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284294,LOC400654,LOC400655,LOC643542,LOC728606,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR302F,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZBTB7C,ZCCHC2,ZNF24,ZNF271,ZNF396,ZNF397,ZNF532,ZSCAN30 chr18 23300000 71300000 Loss Thyroid cancer FISH 19087340 ACAA2,ALPK2,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CPLX4,CTIF,CXXC1,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FECH,FHOD3,GALNT1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284294,LOC400654,LOC400655,LOC643542,LOC728606,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR302F,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSMA8,PSTPIP2,RAB27B,RAX,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZBTB7C,ZCCHC2,ZNF24,ZNF271,ZNF396,ZNF397,ZNF532,ZSCAN30 chr18 23392407 23392507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23405949 23405981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23416024 23416124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 82341866 82576806 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-267K arrays 21546498 LPHN2 chr18 23420930 23420997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23443077 23443177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23576461 23576561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23593794 24194225 LOH Normal High-resolution SNP genotyping 21211785 KCTD1,PSMA8,SS18,TAF4B chr18 23596216 23670610 Deletion Prostate cancer aCGH 22341455 SS18 chr18 2362221 2366969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 2362269 2367052 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 23710340 23710385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23713815 23773318 Deletion Prostate cancer aCGH 22341455 PSMA8 chr18 23782770 23782956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 23784927 24011443 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TAF4B chr18 23784932 24011189 Gain or loss Breast cancer - 20668451 TAF4B chr18 23784932 24011189 Gain or loss Cancer - 20668451 TAF4B chr18 23784932 24011189 Gain or loss Lung cancer - 20668451 TAF4B chr18 23784932 24011189 Gain or loss Ovarian cancer - 20668451 TAF4B chr18 23784932 24011189 Gain or loss Pancreas cancer - 20668451 TAF4B chr18 23784932 24011189 Gain or loss Prostate cancer - 20668451 TAF4B chr18 23784934 24011189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF4B chr18 23784934 24011189 Gain and loss Pancreatic cancer SNP array 17952125 TAF4B chr18 23784934 24011189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF4B chr18 23806408 23971648 Deletion Prostate cancer aCGH 22341455 TAF4B chr18 2384019 2427903 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 23887204 76111023 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ACAA2,ALPK2,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CHST9,CHST9-AS1,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC728606,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR302F,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF532,ZSCAN30 chr18 23919688 25170410 LOH Normal High-resolution SNP genotyping 21211785 AQP4,CHST9,CHST9-AS1,KCTD1,LOC728606,TAF4B chr1 823965 2511264 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,KLHL17,LOC100129534,LOC100130417,LOC100133445,LOC115110,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,PANK4,PEX10,PLCH2,PLEKHN1,PRKCZ,PUSL1,RER1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 chr18 23974174 25155430 LOH Normal High-resolution SNP genotyping 21211785 AQP4,CHST9,CHST9-AS1,KCTD1,LOC728606 chr18 24034873 24220307 Deletion Prostate cancer aCGH 22341455 KCTD1 chr18 24065580 24065680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCTD1 chr18 24081875 24082207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCTD1 chr18 24108416 24108516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCTD1 chr18 24125826 24617754 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 AQP4,CHST9,CHST9-AS1,KCTD1,LOC728606 chr18 24299967 24300088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 24339734 24339804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 24346903 24346993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 24355419 24355561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 24376576 25308473 LOH Normal High-resolution SNP genotyping 21211785 AQP4,CHST9,CHST9-AS1 chr18 24383608 24383758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 24425650 24447522 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AQP4,CHST9-AS1 chr18 24432006 24445715 Deletion Prostate cancer aCGH 22341455 AQP4,CHST9-AS1 chr18 24471349 25754957 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDH2,CHST9,CHST9-AS1 chr18 24478963 25445625 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 CHST9,CHST9-AS1 chr18 24489581 24511261 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHST9,CHST9-AS1 chr18 24495594 24765288 Deletion Prostate cancer aCGH 22341455 CHST9,CHST9-AS1 chr18 24499754 24499847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST9,CHST9-AS1 chr18 24507049 24534110 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHST9,CHST9-AS1 chr18 24512956 24557666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHST9,CHST9-AS1 chr18 2452400 3337813 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CBX3P2,EMILIN2,LOC727896,LPIN2,METTL4,MYL12A,MYL12B,MYOM1,NDC80,SMCHD1 chr18 24525401 24534400 Deletion Glioma mate-paired sequence 20126413 CHST9 chr18 24564865 24745040 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CHST9 chr18 24578907 24579007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST9 chr18 24611489 24611589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST9 chr18 24617742 24618062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHST9 chr18 2462724 2462837 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 24630000 24650000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 CHST9 chr18 24651147 24651247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHST9 chr18 2466222 2499389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 24688156 24695277 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CHST9 chr18 24744073 24744073 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 CHST9 chr18 24744073 24744073 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 CHST9 chr1 82481575 82481675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 24829257 24829354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 24843654 24843721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8248500 8248600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 24964403 24964503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 24990733 76110993 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ACAA2,ALPK2,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR302F,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF532,ZSCAN30 chr18 25000000 32700000 Copy number Renal cell carcinoma quantification of RCCX modules 19150565 ASXL3,B4GALT6,C18orf34,CDH2,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,FAM59A,KLHL14,LOC100652770,MAPRE2,MEP1B,MIR302F,NOL4,RNF125,RNF138,SLC25A52,TRAPPC8,TTR,WBP11P1 chr18 25000000 32700000 Deletion Colorectal cancer PCR 16912164 ASXL3,B4GALT6,C18orf34,CDH2,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,FAM59A,KLHL14,LOC100652770,MAPRE2,MEP1B,MIR302F,NOL4,RNF125,RNF138,SLC25A52,TRAPPC8,TTR,WBP11P1 chr18 25000000 37200000 Gain and amplification Multiple myeloma Array CGH 16616336 ASXL3,B4GALT6,C18orf21,C18orf34,CDH2,CELF4,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,ELP2,FAM59A,FHOD3,GALNT1,INO80C,KIAA1328,KLHL14,LINC00669,LOC100652770,MAPRE2,MEP1B,MIR187,MIR302F,MIR3975,MIR4318,MOCOS,NOL4,RNF125,RNF138,RPRD1A,SLC25A52,SLC39A6,TPGS2,TRAPPC8,TTR,WBP11P1,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 25000000 78077248 Loss Colorectal cancer 30K oligonucleotide-based Array CGH 19150955 ACAA2,ADNP2,ALPK2,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CNDP1,CNDP2,CPLX4,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GRP,HAUS1,HDHD2,HMSD,HSBP1L1,IER3IP1,INO80C,KATNAL2,KC6,KCNG2,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR302F,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,NOL4,OACYLP,ONECUT2,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSTPIP2,RAB27B,RAX,RBFA,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTR,TXNL1,TXNL4A,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF532,ZSCAN30 chr18 25000546 25000632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25030404 25030490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 25041383 25041483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2511645 2511745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25139408 25816184 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH2 chr18 25199079 31326956 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ASXL3,B4GALT6,C18orf34,CDH2,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KLHL14,LOC100652770,MEP1B,MIR302F,RNF125,RNF138,SLC25A52,TRAPPC8,TTR,WBP11P1 chr18 25212134 25246442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 25224310 25225935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 2527525 2561489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 METTL4 chr18 2527525 2561489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL4 chr18 2527530 2561470 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 METTL4 chr18 2527530 2561470 Gain and loss Pancreatic cancer SNP array 17952125 METTL4 chr18 25278345 25312558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 25317291 25317386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 25381697 25381752 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr18 25387334 25387434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 254075 255464 Loss Autism 1M Ailent CGH whole-genome array 21865298 THOC1 chr18 25530929 25757444 Deletion Prostate cancer aCGH 22341455 CDH2 chr18 25571448 25571548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH2 chr18 2561579 2606633 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 METTL4,NDC80 chr18 2561579 2606633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 METTL4,NDC80 chr18 2561579 2606633 Gain and loss Pancreatic cancer SNP array 17952125 METTL4,NDC80 chr18 2561579 2606633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL4,NDC80 chr18 25616401 25620000 Deletion Glioma mate-paired sequence 20126413 CDH2 chr18 25646886 25646986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH2 chr18 25701410 25746737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH2 chr1 82571182 82571282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25719465 25719565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH2 chr18 25743015 25744837 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH2 chr18 2579680 2579856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NDC80 chr1 82581235 82812961 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-297K arrays 21546498 NOT_FOUND chr18 25816184 27959308 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 MIR302F chr18 25824212 25889816 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 2583673 2584912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDC80 chr18 25851085 25851185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25851198 25851351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 825852 120863833 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADAM30,ADC,ADORA3,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A2P1,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,AP4B1,AP4B1-AS1,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP1A1,ATP1A1OS,ATP5F1,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf162,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf88,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZA1,CAPZB,CASP9,CASQ2,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD101,CD164L2,CD2,CD52,CD53,CD58,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CEPT1,CHD5,CHI3L2,CHIA,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSDE1,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CTTNBP2NL,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DCLRE1B,DDAH1,DDI2,DDOST,DDX20,DEM1,DENND2C,DENND2D,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM19A3,FAM212B,FAM213B,FAM40A,FAM43B,FAM46B,FAM46C,FAM54B,FAM69A,FAM72B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HAO2,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIPK1,HIVEP3,HMGB4,HMGCL,HMGCS2,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IGSF3,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCND3,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LINC00622,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100133445,LOC100133612,LOC100505768,LOC100506343,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643355,LOC643441,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRIG2,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MAB21L3,MACF1,MAD2L2,MAGI3,MAGOH,MAN1A2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR320B1,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR4256,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MIR942,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MOV10,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NBPF7,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NGF,NHLH2,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NOTCH2,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRAS,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OLFML3,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OVGP1,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGCP1,PGD,PGM1,PHACTR4,PHC2,PHF13,PHGDH,PHTF1,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPM1J,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTGFRN,PTP4A2,PTPN22,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1A,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,REG4,RER1,RERE,RHBDL2,RHCE,RHD,RHOC,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RP11-165H20.1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSBN1,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SIKE1,SKI,SKINTL,SLC16A1,SLC16A4,SLC1A7,SLC22A15,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPAG17,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,ST7L,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYCP1,SYDE2,SYF2,SYNC,SYPL2,SYT6,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TBX15,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM33,TRIM45,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSHB,TSPAN1,TSPAN2,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTF2,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VANGL1,VAV3,VAV3-AS1,VCAM1,VPS13D,VTCN1,VWA1,VWA5B1,WARS2,WASF2,WDR3,WDR47,WDR63,WDR65,WDR77,WDR78,WDTC1,WLS,WNT2B,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNF697,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr18 25855337 25855437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25871664 25871817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25871723 25871823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25871822 25871997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25883679 25884004 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 25949057 25949478 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 25964850 25998563 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 25983078 25983173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 25987928 26633241 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 26049100 26049200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26082602 76083117 Deletion Acute myeloid leukemia - 21251322 ACAA2,ALPK2,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CELF4,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR302F,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF532,ZSCAN30 chr18 2611089 2611195 Gain and loss Pancreatic cancer SNP array 17952125 NDC80 chr18 2611089 2611198 Gain and loss Pancreatic cancer SNP array 17952125 NDC80 chr18 2611089 2611200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDC80 chr18 26112209 26136001 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 26126569 26126897 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 26195798 26195898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26211659 26211759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26224126 26224225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 82624617 82624678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26268037 26313385 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 26306213 26306313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2630661 2841404 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1138K arrays 21546498 CBX3P2,SMCHD1 chr18 26327258 26489165 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 26383905 26383993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2639760 2639866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 2639760 2639866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 2639761 2639866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 82641689 82641789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 264272 298896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THOC1 chr18 2645886 2678689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CBX3P2,SMCHD1 chr18 2645886 2678689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBX3P2,SMCHD1 chr18 2645886 2678691 Gain and loss Pancreatic cancer SNP array 17952125 CBX3P2,SMCHD1 chr18 26477888 26478150 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr18 26527047 26527142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26623588 26623688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26633099 26633199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2664799 2723565 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 SMCHD1 chr18 2665616 2665716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMCHD1 chr18 26656337 26656437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26692597 28137053 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 MIR302F chr18 26696072 75424109 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACAA2,ALPK2,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CELF4,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR302F,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF532,ZSCAN30 chr18 26721857 27492684 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 26802056 26802156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26811646 26811746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 26813530 26813623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 26818070 26818175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 26818070 26818175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 26824050 26876779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 26824050 26876779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 26824938 26825752 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr18 26825029 26876687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 26845863 27650716 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 26889552 26920378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 82688990 82689061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 26900005 26936375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 26900005 26936375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 26900005 26936375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 2690857 2792925 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SMCHD1 chr18 2690857 2792925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMCHD1 chr18 26911129 26911229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 269288 32105471 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABHD3,ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,B4GALT6,C18orf1,C18orf34,C18orf42,C18orf56,C18orf61,C18orf8,CABLES1,CABYR,CBX3P2,CDH2,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,COLEC12,CTAGE1,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,EMILIN2,ENOSF1,EPB41L3,ESCO1,FAM210A,FAM59A,GATA6,GNAL,GREB1L,HRH4,IMPA2,IMPACT,KCTD1,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC100652770,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LPIN2,LRRC30,MC2R,MC5R,MEP1B,METTL4,MIB1,MIR1-2,MIR133A1,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3976,MIR4317,MIR4526,MIR4741,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,NOL4,NPC1,OSBPL1A,PIEZO2,POTEC,PPP4R1,PSMA8,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RBBP8,RIOK3,RNF125,RNF138,RNMT,ROCK1,SEH1L,SLC25A52,SLMO1,SMCHD1,SNRPD1,SOGA2,SPIRE1,SS18,TAF4B,TGIF1,TMEM200C,TMEM241,TRAPPC8,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TYMS,VAPA,WBP11P1,YES1,ZFP161,ZNF519,ZNF521 chr1 826948 840550 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 26963189 26996817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 26963214 26996817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 26963214 26996817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 26975590 26977658 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 26993932 26994012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27025327 27029922 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 27041074 27075373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 27064001 27064095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27077139 27077203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 27152050 27190457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27152050 27191392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27152050 27191392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27170542 27173991 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr18 27179323 27179428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27179323 27179428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27210738 27247877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27210738 27247877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27210738 27247878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27216278 27216389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27216278 27216391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 2725162 2725262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMCHD1 chr18 27272112 28053311 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR302F chr18 27275649 27275681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27281730 27312661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27281730 27312661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27281839 27312649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 2729474 2795009 Gain and loss Pancreatic cancer SNP array 17952125 SMCHD1 chr18 27332170 27380754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27332170 27380754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27332233 27380855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 827354 9538950 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CA6,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DFFB,DNAJC11,DVL1,ENO1,ENO1-AS1,ERRFI1,ESPN,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,GPR157,H6PD,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LOC100129534,LOC100130417,LOC100133445,LOC100133612,LOC115110,LOC148413,LOC254099,LOC284661,LOC728716,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR34A,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,PANK4,PARK7,PER3,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RERE,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC2A5,SLC2A7,SLC35E2,SLC35E2B,SLC45A1,SMIM1,SPSB1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TNFRSF9,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,UTS2,VAMP3,VWA1,WRAP73,ZBTB48 chr1 82735880 82736203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 27370041 27371041 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr18 27379915 27379915 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr18 27386730 28251194 LOH Normal High-resolution SNP genotyping 21211785 MIR302F chr1 82739838 82739938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27425838 27432793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27425838 27432793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27425838 27432793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27457131 27518684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27457131 27518684 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27457131 27518684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27457486 27458228 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 8274810 8274910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27503261 27503343 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27503261 27503343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27518296 27518392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27552854 27553111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27552854 27553173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27552854 27553185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27558955 27574748 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 27580619 27637275 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 27593656 27594841 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 27593729 27594622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27593729 27594622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27594215 27594599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27624840 27669710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 2764880 2764961 Gain and loss Pancreatic cancer SNP array 17952125 SMCHD1 chr18 2764880 2764961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMCHD1 chr18 2765871 2765963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMCHD1 chr18 27663133 27777089 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 27663133 27777097 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 27663135 27777089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27663135 27777089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27663902 27777097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 2768939 2769053 Gain and loss Pancreatic cancer SNP array 17952125 SMCHD1 chr18 2768939 2769055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMCHD1 chr18 27712491 27712591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27731464 27735067 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 27769289 27769379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27771494 27771600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27771494 27771613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27771495 27771594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 277734 280282 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr18 27796136 27797582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27796151 27797537 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27800683 27800860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27852442 27907152 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MIR302F chr18 27852442 27907152 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MIR302F chr18 27852442 27907152 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MIR302F chr18 27852443 27903161 Gain and loss Pancreatic cancer SNP array 17952125 MIR302F chr18 27852443 27907152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR302F chr18 27852443 27907152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR302F chr18 27857506 27857596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27903953 27931381 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 27909848 27910233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27909851 27910233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27923255 27923322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 27925834 27965522 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 27925835 27965521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27925835 27965521 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27925835 27965521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27926644 27965522 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 27928465 27928565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 27928465 27928565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 27928799 27945678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 82795183 84556142 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR548AP,PRKACB,TTLL7 chr18 27959308 31484183 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ASXL3,B4GALT6,C18orf34,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,KLHL14,LOC100652770,MEP1B,NOL4,RNF125,RNF138,SLC25A52,TRAPPC8,TTR,WBP11P1 chr18 27991072 27992015 Loss or gain Normal 244K array 17666407 NOT_FOUND chr18 27994192 28026646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 28000438 28000492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 28002603 28002683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 28010009 28010128 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 28010011 28010128 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 28010011 28010129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28023985 28054362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28023985 28054362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28023986 28054362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 28055993 28191074 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 28097095 28097199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 28097096 28097199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28097101 28097197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 28101461 28304445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28101461 28304445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28101477 28304389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 28142431 28143726 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 82815233 82815552 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 28245469 28247165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28245469 28247165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28282086 28388849 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 28345624 28348594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 28345624 28348594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 28345624 28348594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 283519 294262 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 28360103 28360183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 2837028 2904090 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EMILIN2 chr18 2837028 2904090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMILIN2 chr18 2837028 2904090 Gain and loss Pancreatic cancer SNP array 17952125 EMILIN2 chr18 2837028 2904090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMILIN2 chr18 28386587 28386687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 28388849 29857021 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B4GALT6,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,LOC100652770,MEP1B,RNF125,RNF138,SLC25A52,TRAPPC8,TTR chr18 28406144 29857021 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B4GALT6,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,FAM59A,LOC100652770,MEP1B,RNF125,RNF138,SLC25A52,TRAPPC8,TTR chr18 2848368 2848468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EMILIN2 chr18 28506631 28606972 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DSC3 chr18 28506632 28606840 Gain and loss Pancreatic cancer SNP array 17952125 DSC3 chr18 28506632 28606972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSC3 chr18 28506632 28606972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSC3 chr18 28535454 28535678 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 28553248 28564750 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 28559108 29687947 LOH Normal High-resolution SNP genotyping 21211785 B4GALT6,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,LOC100652770,RNF125,RNF138,SLC25A52,TRAPPC8,TTR chr18 28570051 28622780 Deletion Prostate cancer aCGH 22341455 DSC3 chr18 28602532 28602632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSC3 chr18 28605622 28605722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSC3 chr18 28610908 75156669 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1135K arrays 21546498 ACAA2,ALPK2,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CELF4,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KDSR,KIAA1328,KIAA1468,KLHL14,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEP1B,MEX3C,MIR122,MIR1539,MIR187,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF125,RNF138,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTR,TXNL1,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF532,ZSCAN30 chr18 2862368 3123302 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EMILIN2,LOC727896,LPIN2,MYOM1 chr18 28634894 29240123 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 B4GALT6,DSC1,DSC2,DSG1,DSG2,DSG3,DSG4,LOC100652770,TTR chr18 28637325 28828735 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DSC1,DSC2 chr18 28645941 28682387 Deletion Prostate cancer aCGH 22341455 DSC2 chr1 8286489 8286589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 2866494 2866640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EMILIN2 chr18 28667357 28725469 Gain Normal 244K array 17666407 DSC1,DSC2 chr18 28709198 28742818 Deletion Prostate cancer aCGH 22341455 DSC1 chr18 28727756 28759925 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DSC1 chr18 28749687 28755254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 28749708 28757535 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 28751384 28757536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 28771365 29274683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B4GALT6,DSG1,DSG2,DSG3,DSG4,LOC100652770,TTR chr18 28771365 29274683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B4GALT6,DSG1,DSG2,DSG3,DSG4,LOC100652770,TTR chr18 28771587 29274044 Gain and loss Pancreatic cancer SNP array 17952125 B4GALT6,DSG1,DSG2,DSG3,DSG4,LOC100652770,TTR chr18 28823003 28823080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 28883819 28883877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 28898051 28937393 Deletion Prostate cancer aCGH 22341455 DSG1 chr18 2890694 2935703 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EMILIN2,LPIN2 chr18 28925963 28925995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSG1 chr18 28926125 28926225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSG1 chr18 28952098 29006831 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DSG4 chr18 28956739 28993879 Deletion Prostate cancer aCGH 22341455 DSG4 chr18 2896001 2904000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMILIN2 chr1 82896701 82902100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 82898547 82900157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 82898565 82900177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 2900000 15400000 Gain Glioblastoma multiforme aCGH 21080181 AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SOGA2,SPIRE1,TGIF1,TMEM200C,TUBB6,TWSG1,TXNDC2,VAPA,ZFP161,ZNF519 chr18 2900000 17300000 Duplication Heart disease Illumina 631Quad Beadchip platform 21282601 AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SOGA2,SPIRE1,TGIF1,TMEM200C,TUBB6,TWSG1,TXNDC2,VAPA,ZFP161,ZNF519 chr18 2900000 31000000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 ABHD3,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,B4GALT6,C18orf1,C18orf34,C18orf42,C18orf61,C18orf8,CABLES1,CABYR,CDH2,CEP192,CEP76,CHMP1B,CHST9,CHST9-AS1,CIDEA,CTAGE1,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,EMILIN2,EPB41L3,ESCO1,FAM210A,FAM59A,GATA6,GNAL,GREB1L,HRH4,IMPA2,IMPACT,KCTD1,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC100652770,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LPIN2,LRRC30,MC2R,MC5R,MEP1B,MIB1,MIR1-2,MIR133A1,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3976,MIR4317,MIR4526,MIR4741,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDUFV2,NPC1,OSBPL1A,PIEZO2,POTEC,PPP4R1,PSMA8,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RBBP8,RIOK3,RNF125,RNF138,RNMT,ROCK1,SEH1L,SLC25A52,SLMO1,SNRPD1,SOGA2,SPIRE1,SS18,TAF4B,TGIF1,TMEM200C,TMEM241,TRAPPC8,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,VAPA,WBP11P1,ZFP161,ZNF519,ZNF521 chr18 2900000 7200000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 ARHGAP28,C18orf42,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,TGIF1,TMEM200C,ZFP161 chr18 2900000 7200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP28,C18orf42,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,TGIF1,TMEM200C,ZFP161 chr18 2900000 7200000 Copy number Normal - 20680643 ARHGAP28,C18orf42,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,TGIF1,TMEM200C,ZFP161 chr18 2900000 7200000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 ARHGAP28,C18orf42,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,TGIF1,TMEM200C,ZFP161 chr18 2900000 7200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP28,C18orf42,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,TGIF1,TMEM200C,ZFP161 chr18 2900000 76117153 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD3,ACAA2,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CHMP1B,CHST9,CHST9-AS1,CIDEA,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,VAPA,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 2900000 78077248 Gain Basal cell lymphoma Array CGH 16317097 ABHD3,ACAA2,ADNP2,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CHMP1B,CHST9,CHST9-AS1,CIDEA,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDUFV2,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PQLC1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TXNL4A,VAPA,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 2900000 78077248 Gain Diffuse large b-cell lymphoma Array CGH 16317097 ABHD3,ACAA2,ADNP2,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,ATP9B,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CHMP1B,CHST9,CHST9-AS1,CIDEA,CNDP1,CNDP2,CPLX4,CTAGE1,CTDP1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,HSBP1L1,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCNG2,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDUFV2,NEDD4L,NETO1,NFATC1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PQLC1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RBFA,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SALL3,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TXNL4A,VAPA,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 2900000 8500000 Loss Breast cancer Microarray-based CGH 17133270 ARHGAP28,C18orf42,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,PTPRM,TGIF1,TMEM200C,ZFP161 chr1 829001 907500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL17,LOC100130417,NOC2L,PLEKHN1,SAMD11 chr18 29003605 29003676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 29009526 29009611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 82901824 82901924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 29027731 29058664 Deletion Prostate cancer aCGH 22341455 DSG3 chr18 2906994 3001945 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EMILIN2,LOC727896,LPIN2 chr18 2906994 3001945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMILIN2,LOC727896,LPIN2 chr18 2906994 3001945 Gain and loss Pancreatic cancer SNP array 17952125 EMILIN2,LOC727896,LPIN2 chr18 2906994 3001945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMILIN2,LOC727896,LPIN2 chr18 29078026 29128813 Deletion Prostate cancer aCGH 22341455 DSG2,LOC100652770 chr18 29080064 29080164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSG2 chr18 29103436 29103536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSG2 chr18 29117302 29146121 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DSG2,LOC100652770 chr18 29171729 29178986 Deletion Prostate cancer aCGH 22341455 TTR chr18 29202208 29264685 Deletion Prostate cancer aCGH 22341455 B4GALT6 chr18 29237591 29237691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 B4GALT6 chr18 2924536 4182281 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DLGAP1,DLGAP1-AS1,DLGAP1-AS3,LOC727896,LPIN2,MYL12A,MYL12B,MYOM1,TGIF1 chr18 29328366 31452672 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 ASXL3,C18orf34,FAM59A,KLHL14,MEP1B,NOL4,RNF125,RNF138,SLC25A52,TRAPPC8,WBP11P1 chr18 29372993 29373093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 29397911 29398228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 29412539 29581375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAPPC8 chr18 29412539 29581375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAPPC8 chr18 29505045 29505145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAPPC8 chr1 82955251 82986952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 29573153 29581375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 29573298 29573596 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 29598444 29653153 Deletion Prostate cancer aCGH 22341455 RNF125 chr18 29671817 29711523 Deletion Prostate cancer aCGH 22341455 RNF138 chr18 29685062 30057513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM59A,MEP1B,RNF138 chr18 29685062 30057513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM59A,MEP1B,RNF138 chr18 29686412 30057519 Gain and loss Pancreatic cancer SNP array 17952125 FAM59A,MEP1B,RNF138 chr18 29769986 29800366 Deletion Prostate cancer aCGH 22341455 MEP1B chr18 29772698 29772798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEP1B chr18 29822376 29822476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 29823568 29823668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 2982998 2983088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPIN2 chr18 29835660 29835761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 29835662 29835761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 29835663 29835761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 29847462 30050446 Deletion Prostate cancer aCGH 22341455 FAM59A chr18 29873114 29873214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM59A chr18 2987377 2987457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LPIN2 chr18 29876384 29924115 Gain Normal Birdsuite, version 1.5.2 22087296 FAM59A chr18 29919287 29919322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM59A chr18 29998801 30002900 Deletion Glioma mate-paired sequence 20126413 FAM59A chr18 30000704 30001040 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM59A chr18 30031388 30031477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM59A chr1 8300756 8326814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 8300756 8326814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 3015432 3015519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 3015432 3015565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 30189230 30972922 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C18orf34,KLHL14 chr18 30189736 30189818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 30189805 30190009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 30215296 30215396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 30252633 30352973 Deletion Prostate cancer aCGH 22341455 KLHL14 chr1 83027351 83030913 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 83027919 83028003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 30309815 30309915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL14 chr18 30327279 30725363 Gain and loss Pancreatic cancer SNP array 17952125 C18orf34,KLHL14 chr18 30327279 30725806 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C18orf34,KLHL14 chr18 30327279 30725806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C18orf34,KLHL14 chr18 30327279 30725806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C18orf34,KLHL14 chr18 30342036 30343281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLHL14 chr18 30388376 30388476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 30398963 30408650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 83040583 83720332 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr18 30408011 30408458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 30446156 30446245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 30503956 30504056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 305139 9971412 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADCYAP1,ANKRD12,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,NDUFV2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,SMCHD1,SOGA2,TGIF1,TMEM200C,TWSG1,TXNDC2,TYMS,VAPA,YES1,ZFP161 chr18 30517365 31020684 Deletion Prostate cancer aCGH 22341455 C18orf34 chr1 830520 1018317 Deletion Schizophrenia NimbleGen HD2 platform 21346763 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 chr18 30547373 31201178 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASXL3,C18orf34 chr18 30548432 30548532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf34 chr18 3056805 3210106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYOM1 chr18 3056805 3210106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYOM1 chr18 3056806 3210106 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MYOM1 chr18 3056806 3210106 Gain and loss Pancreatic cancer SNP array 17952125 MYOM1 chr18 30587295 30587643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C18orf34 chr18 30600147 31481579 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ASXL3,C18orf34,NOL4 chr18 30653908 30653993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C18orf34 chr18 30711720 30711720 Copy number Prostate cancer Illumina GA II sequencer 21307934 C18orf34 chr18 30722261 30722361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf34 chr18 30749784 30749884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf34 chr18 30765074 30765154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf34 chr18 30784958 30785227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C18orf34 chr18 3083565 3083627 Gain and loss Pancreatic cancer SNP array 17952125 MYOM1 chr18 30866321 30866421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C18orf34 chr18 30875379 30975820 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C18orf34 chr18 30875379 30975820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C18orf34 chr18 30875379 30975820 Gain and loss Pancreatic cancer SNP array 17952125 C18orf34 chr18 30875379 30975820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C18orf34 chr18 30875388 30975813 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 C18orf34 chr18 30915953 30916269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C18orf34 chr18 309355 490729 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 COLEC12 chr18 309356 490685 Gain and loss Pancreatic cancer SNP array 17952125 COLEC12 chr18 309356 490689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COLEC12 chr18 309356 490689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COLEC12 chr18 309356 490689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COLEC12 chr18 31000000 35500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASXL3,C18orf21,C18orf34,CELF4,DTNA,ELP2,FHOD3,GALNT1,INO80C,KIAA1328,MAPRE2,MIR187,MIR3975,MIR4318,MOCOS,NOL4,RPRD1A,SLC39A6,TPGS2,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 31000000 35500000 Copy number Normal - 20680643 ASXL3,C18orf21,C18orf34,CELF4,DTNA,ELP2,FHOD3,GALNT1,INO80C,KIAA1328,MAPRE2,MIR187,MIR3975,MIR4318,MOCOS,NOL4,RPRD1A,SLC39A6,TPGS2,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 31000000 35500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASXL3,C18orf21,C18orf34,CELF4,DTNA,ELP2,FHOD3,GALNT1,INO80C,KIAA1328,MAPRE2,MIR187,MIR3975,MIR4318,MOCOS,NOL4,RPRD1A,SLC39A6,TPGS2,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 31000000 35500000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ASXL3,C18orf21,C18orf34,CELF4,DTNA,ELP2,FHOD3,GALNT1,INO80C,KIAA1328,MAPRE2,MIR187,MIR3975,MIR4318,MOCOS,NOL4,RPRD1A,SLC39A6,TPGS2,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 31000000 35500000 Translocation Breast cancer transcriptome sequencing 19181860 ASXL3,C18orf21,C18orf34,CELF4,DTNA,ELP2,FHOD3,GALNT1,INO80C,KIAA1328,MAPRE2,MIR187,MIR3975,MIR4318,MOCOS,NOL4,RPRD1A,SLC39A6,TPGS2,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 31000000 76117153 Loss Glioblastoma multiforme aCGH 21080181 ACAA2,ALPK2,ASXL3,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CELF4,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DTNA,DYM,ELAC1,ELP2,EPG5,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,INO80C,KATNAL2,KC6,KDSR,KIAA1328,KIAA1468,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR187,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,NEDD4L,NETO1,NOL4,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF152,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TPGS2,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF532,ZSCAN30 chr1 8310714 8310826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31074999 31100578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 31075017 31092323 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 31075017 31092323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31075017 31092323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31086817 31124170 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 31086817 31124170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 31086817 31124170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31109674 31109774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 31114829 31124163 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 31114829 31124163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31114829 31124163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31124244 31144728 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 31124244 31144728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31124244 31144728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31124295 31142072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 31158540 31327398 Deletion Prostate cancer aCGH 22341455 ASXL3 chr18 31166633 31173277 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASXL3 chr18 31166633 31173277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASXL3 chr18 31169948 31178405 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASXL3 chr18 31169948 31178405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASXL3 chr18 31169948 31178405 Gain and loss Pancreatic cancer SNP array 17952125 ASXL3 chr18 31169948 31178405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASXL3 chr1 8312001 8348000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 31200659 31211299 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASXL3 chr18 31200659 31211299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASXL3 chr18 31200659 31211299 Gain and loss Pancreatic cancer SNP array 17952125 ASXL3 chr18 31200659 31211299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASXL3 chr1 8312019 8345982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 31214074 31217315 Gain and loss Pancreatic cancer SNP array 17952125 ASXL3 chr18 31228708 31228808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASXL3 chr18 31279912 31326016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASXL3 chr18 31287287 31331953 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ASXL3 chr18 31288784 31331953 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASXL3 chr18 31288784 31331953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASXL3 chr18 31288784 31331953 Gain and loss Pancreatic cancer SNP array 17952125 ASXL3 chr18 31288784 31331953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASXL3 chr18 31298446 31298546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASXL3 chr18 31316336 31316411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASXL3 chr18 31407143 31913913 LOH Normal High-resolution SNP genotyping 21211785 NOL4 chr18 31415001 31545792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOL4 chr18 31415001 31545792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL4 chr18 31423583 31423683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 83142884 83175453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 31431063 31803445 Deletion Prostate cancer aCGH 22341455 NOL4 chr18 31455197 31455522 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOL4 chr18 31486330 31486397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOL4 chr18 31488599 31545792 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOL4 chr18 31488599 31545792 Gain and loss Pancreatic cancer SNP array 17952125 NOL4 chr18 31498928 31770638 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOL4 chr18 31533014 31533199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOL4 chr18 31548610 31559822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOL4 chr18 31591628 31623948 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOL4 chr18 31606882 31606970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOL4 chr18 31666193 31674331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOL4 chr18 31682734 31704573 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOL4 chr18 31709729 31709828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOL4 chr18 31738779 31738887 Gain and loss Pancreatic cancer SNP array 17952125 NOL4 chr18 31738779 31738887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL4 chr18 31758325 32830788 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DTNA,MAPRE2,NOL4,ZNF397 chr18 31799855 31799944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOL4 chr18 31806586 31813239 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 31806586 31813239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31806586 31813239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31806727 31813238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 31821389 31821540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 31823785 31901491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31823785 31901491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31823785 31901518 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 31823792 31901517 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 31919121 31919221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 31942493 31963355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31942493 31963355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31943197 31963203 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 31943197 31963203 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 31954005 32142971 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 DTNA chr18 31963879 32008679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 31963881 32008609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31963881 32008609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 31963882 32008616 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 31964579 31964679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 83197038 83242577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 31980111 33275681 LOH Normal High-resolution SNP genotyping 21211785 DTNA,GALNT1,INO80C,MAPRE2,MIR3975,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 32021478 32102682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTNA chr18 32021478 32102682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTNA chr18 32021480 32102682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DTNA chr18 32021480 32102682 Gain and loss Pancreatic cancer SNP array 17952125 DTNA chr18 32073253 32471807 Deletion Prostate cancer aCGH 22341455 DTNA chr1 83208768 83208868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 83208897 83720332 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 83208897 83720332 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr18 32098750 32098828 Gain and loss Pancreatic cancer SNP array 17952125 DTNA chr18 32098750 32098870 Gain and loss Pancreatic cancer SNP array 17952125 DTNA chr18 32098750 32098888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTNA chr18 3210260 3274510 Insert Cancer ultra-high resolution array CGH 21272361 MYL12A,MYL12B,MYOM1 chr18 32110777 32110872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTNA chr18 32122762 32122862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTNA chr18 32131678 32614016 Gain and loss Pancreatic cancer SNP array 17952125 DTNA,MAPRE2 chr18 32131700 32614016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTNA,MAPRE2 chr18 32131700 32614016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTNA,MAPRE2 chr18 32159311 32441234 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DTNA chr18 3217499 3217599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYOM1 chr18 32187856 32187947 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DTNA chr18 32222340 32222428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTNA chr18 32223929 32291771 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DTNA chr1 8322393 8322503 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 32244031 32558105 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DTNA,MAPRE2 chr18 32256838 32262178 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DTNA chr18 32268567 32270307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DTNA chr18 32304033 32733948 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DTNA,MAPRE2 chr18 32314859 32315086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DTNA chr18 3237528 3246226 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 3237528 3246226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 3237528 3246226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 3237528 3246228 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 32395946 32429229 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DTNA chr1 8324471 8338483 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 32448402 32448494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTNA chr18 32512128 32515408 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr18 3252123 3268247 Gain and loss Pancreatic cancer SNP array 17952125 MYL12A,MYL12B chr18 3252123 3268282 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MYL12A,MYL12B chr18 3252135 3268282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYL12A,MYL12B chr18 3252135 3268282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYL12A,MYL12B chr18 32540893 32540993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8325453 8517656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RERE,SLC45A1 chr18 32556891 32722377 Deletion Prostate cancer aCGH 22341455 MAPRE2 chr18 32573034 32573134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPRE2 chr18 32594027 32594127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPRE2 chr18 32630033 32662938 Gain and loss Pancreatic cancer SNP array 17952125 MAPRE2 chr18 32630033 32663156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPRE2 chr18 32630033 32663156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE2 chr18 32663078 33059285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INO80C,MAPRE2,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 32663078 33059285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80C,MAPRE2,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 32668158 33063846 Gain and loss Pancreatic cancer SNP array 17952125 INO80C,MAPRE2,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 32700000 48200000 Deletion Colorectal cancer PCR 16912164 ACAA2,ATP5A1,C18orf21,C18orf25,C18orf32,CCDC11,CELF4,CTIF,CXXC1,DYM,ELP2,EPG5,FHOD3,GALNT1,HAUS1,HDHD2,IER3IP1,INO80C,KATNAL2,KC6,KIAA1328,LINC00669,LIPG,LOC100506888,LOC284260,LOXHD1,MAPK4,MAPRE2,MBD1,MIR1539,MIR187,MIR3975,MIR4318,MIR4319,MIR4320,MIR4743,MIR4744,MIR5583-1,MIR5583-2,MOCOS,MYO5B,PIAS2,PIK3C3,PSTPIP2,RIT2,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,SCARNA17,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC39A6,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,SYT4,TCEB3B,TCEB3C,TCEB3CL,TPGS2,ZBTB7C,ZNF24,ZNF271,ZNF396,ZNF397,ZSCAN30 chr18 32763329 32766001 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 832818 1463047 LOH Normal High-resolution SNP genotyping 21211785 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 chr18 32820993 32838396 Deletion Prostate cancer aCGH 22341455 ZNF397,ZSCAN30 chr18 32831022 32870195 Deletion Prostate cancer aCGH 22341455 ZNF397,ZSCAN30 chr18 328394 15434518 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADCYAP1,AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf56,C18orf61,CBX3P2,CEP192,CEP76,CETN1,CHMP1B,CIDEA,CLUL1,COLEC12,CXADRP3,CYP4F35P,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,FAM210A,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC100288122,LOC644669,LOC645355,LOC727896,LPIN2,LRRC30,MC2R,MC5R,METTL4,MIR3156-2,MIR3976,MIR4317,MIR4526,MIR5190,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,TMEM200C,TUBB6,TWSG1,TXNDC2,TYMS,VAPA,YES1,ZFP161,ZNF519 chr18 32839671 32839771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZSCAN30 chr18 32860311 32878773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF271,ZSCAN30 chr18 32907541 32907641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 32912177 32924425 Deletion Prostate cancer aCGH 22341455 ZNF24 chr18 32925328 32925418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 32993780 33038203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 33040900 33600413 Amplification Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 C18orf21,GALNT1,INO80C,MIR187,MIR3975,RPRD1A chr18 33045280 33045380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33048290 33077954 Deletion Prostate cancer aCGH 22341455 INO80C chr1 83305194 83305294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33077828 33399941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT1,INO80C,MIR3975 chr18 33077828 33399941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT1,INO80C,MIR3975 chr18 33078555 33399709 Gain and loss Pancreatic cancer SNP array 17952125 GALNT1,MIR3975 chr18 33078921 33374654 Copy number Lung cancer paired-end sequencing 18438408 GALNT1,MIR3975 chr18 3308056 3308128 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 33082501 33412500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GALNT1,MIR3975 chr18 33084714 33084814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33109098 33109244 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr18 33167913 33958931 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C18orf21,ELP2,FHOD3,GALNT1,MIR187,MIR3975,MOCOS,RPRD1A,SLC39A6 chr18 33171949 33172263 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 33171993 33172415 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 33234532 33291797 Deletion Prostate cancer aCGH 22341455 GALNT1 chr18 33315195 33501543 Gain small cell lung cancer Real-time Quantitative PCR 17426248 MIR187 chr18 33333220 33383029 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 33334136 33379367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 33351176 33351260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33388706 55336838 Copy number Lung cancer paired-end sequencing 18438408 ACAA2,ATP5A1,ATP8B1,BOD1L2,C18orf21,C18orf25,C18orf26,C18orf32,C18orf54,CCDC11,CCDC68,CELF4,CTIF,CXXC1,DCC,DYM,ELAC1,ELP2,EPG5,FECH,FHOD3,HAUS1,HDHD2,IER3IP1,KATNAL2,KC6,KIAA1328,LINC-ROR,LINC00669,LIPG,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOC284260,LOXHD1,MAPK4,MBD1,MBD2,ME2,MEX3C,MIR1539,MIR187,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5583-1,MIR5583-2,MOCOS,MRO,MYO5B,NARS,ONECUT2,PIAS2,PIK3C3,POLI,PSTPIP2,RAB27B,RIT2,RNF165,RPL17,RPL17-C18ORF32,RPRD1A,SCARNA17,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC39A6,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TPGS2,TXNL1,WDR7,ZBTB7C chr18 3339142 3341123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 3340454 3340549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33423258 33478336 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 33453440 33453529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33466470 34489406 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C18orf21,ELP2,FHOD3,KIAA1328,MIR187,MOCOS,RPRD1A,SLC39A6,TPGS2 chr18 33484780 33484888 Deletion Prostate cancer aCGH 22341455 MIR187 chr1 8335053 8800286 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RERE,SLC45A1 chr1 8335053 8800286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RERE,SLC45A1 chr1 8335053 8800286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE,SLC45A1 chr18 33528277 33528377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33542470 33542570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33552587 33559240 Deletion Prostate cancer aCGH 22341455 C18orf21 chr18 33559951 33560682 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr18 33559951 33560682 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 33560059 33560620 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 33569620 33569937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPRD1A chr18 33569790 33647372 Deletion Prostate cancer aCGH 22341455 RPRD1A chr18 33601912 33619575 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RPRD1A chr1 83362009 83362109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 336361 368242 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COLEC12 chr18 33651501 33660900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 33651576 33697019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC39A6 chr18 33653686 33659745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 33656609 33656748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33681589 33681689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33688493 33709356 Deletion Prostate cancer aCGH 22341455 SLC39A6 chr18 33709886 33754606 Deletion Prostate cancer aCGH 22341455 ELP2 chr1 83373387 83720332 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 83373387 83720332 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr18 33767479 33848684 Deletion Prostate cancer aCGH 22341455 MOCOS chr18 33787635 33791133 Loss Normal Birdsuite, version 1.5.2 22087296 MOCOS chr18 33790355 33790455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MOCOS chr18 33804024 33805940 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 MOCOS chr1 83384201 83384301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 33849265 33849315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 3384949 3385314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 33852899 36588202 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CELF4,FHOD3,KIAA1328,MIR4318,TPGS2 chr1 8338735 8344018 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 33877701 34360017 Deletion Prostate cancer aCGH 22341455 FHOD3 chr18 33882210 33882292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHOD3 chr18 33893503 36183722 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 CELF4,FHOD3,KIAA1328,MIR4318,TPGS2 chr1 83392406 83426597 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 3398992 3432000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TGIF1 chr18 3402071 3448406 Microdeletion Holoprosencephaly FISH 16199538 TGIF1 chr18 3402072 3448404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGIF1 chr18 3402072 3448404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGIF1 chr18 34033331 34033431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHOD3 chr18 3405122 3405570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 3405128 3405617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 34061092 34061151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHOD3 chr18 34062156 64186561 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1126K arrays 21546498 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH19,CDH20,CDH7,CELF4,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,FHOD3,GRP,HAUS1,HDHD2,HMSD,IER3IP1,KATNAL2,KC6,KDSR,KIAA1328,KIAA1468,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOC284260,LOC284294,LOC400654,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4318,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5583-1,MIR5583-2,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TNFRSF11A,TPGS2,TXNL1,VPS4B,WDR7,ZBTB7C,ZCCHC2,ZNF532 chr18 34071716 39716357 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CELF4,FHOD3,KC6,KIAA1328,LINC00669,MIR4318,MIR5583-1,MIR5583-2,PIK3C3,TPGS2 chr18 3410649 3485468 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TGIF1 chr18 341300 1269636 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADCYAP1,C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,LINC00470,TYMS,YES1 chr18 34224986 34225086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHOD3 chr18 34249466 34249566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHOD3 chr18 34259846 34263579 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FHOD3 chr18 342951 11479052 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ADCYAP1,ANKRD12,APCDD1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,PPP4R1,PTPRM,RAB12,RAB31,RALBP1,SMCHD1,SOGA2,TGIF1,TMEM200C,TWSG1,TXNDC2,TYMS,VAPA,YES1,ZFP161 chr1 83433921 83720332 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 83435072 83452424 Loss Normal 244K array 17666407 NOT_FOUND chr18 34376033 34409157 Deletion Prostate cancer aCGH 22341455 KIAA1328,TPGS2 chr18 3437608 3448404 Gain and loss Pancreatic cancer SNP array 17952125 TGIF1 chr18 3437738 3448409 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TGIF1 chr18 34390597 34390697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPGS2 chr18 34398562 34399486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPGS2 chr18 34409751 34409851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1328 chr18 34427000 44027000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ATP5A1,C18orf25,CELF4,EPG5,HAUS1,KC6,KIAA1328,LINC00669,LOC284260,MIR4318,MIR4319,MIR5583-1,MIR5583-2,PIK3C3,PSTPIP2,RIT2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SYT4 chr18 3449621 3449696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGIF1 chr1 83452424 83484603 Gain Normal 244K array 17666407 NOT_FOUND chr18 34553853 34553953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1328 chr18 3465477 3466837 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 8346723 8811790 Gain and loss Pancreatic cancer SNP array 17952125 RERE,SLC45A1 chr18 34685534 35630942 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CELF4,KIAA1328,MIR4318 chr18 34785419 34785479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1328 chr18 34785733 34785806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1328 chr18 34823002 35145999 Deletion Prostate cancer aCGH 22341455 CELF4 chr18 34830004 34830094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF4 chr18 34850009 34850306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF4 chr18 34850059 34850306 Gain and loss Pancreatic cancer SNP array 17952125 CELF4 chr18 34850059 34850306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF4 chr18 3486030 3870135 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DLGAP1,DLGAP1-AS1 chr18 3486030 3870135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1,DLGAP1-AS1 chr18 3486030 3870135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1,DLGAP1-AS1 chr18 34867969 34868072 Gain and loss Pancreatic cancer SNP array 17952125 CELF4 chr18 34881903 34929468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CELF4 chr18 3488837 3870135 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP1,DLGAP1-AS1 chr18 34910862 34920695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CELF4 chr18 34986942 34987042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF4 chr18 35024240 35024316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF4 chr18 35040885 35585957 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CELF4,MIR4318 chr18 35053056 35053138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF4 chr18 35102236 35102336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF4 chr18 35130743 35130803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF4 chr18 35157791 35157862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 35168834 35169467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 35168834 35169467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 35168834 35169637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 35179258 35179315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 35205049 35299318 Loss Autism qPCR 20531469 MIR4318 chr18 35211915 35212001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 35243395 35243463 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 35315631 35315960 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 35315631 35315960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 35321013 35321068 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 35339189 35340189 Gain Osteosarcoma References 21215367 NOT_FOUND chr18 35392785 35393785 Gain Osteosarcoma References 21215367 NOT_FOUND chr18 35432027 35432127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 35478657 35478692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 35500000 41800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 KC6,LINC00669,LOC284260,MIR5583-1,MIR5583-2,PIK3C3,RIT2,SYT4 chr18 35500000 41800000 Copy number Normal - 20680643 KC6,LINC00669,LOC284260,MIR5583-1,MIR5583-2,PIK3C3,RIT2,SYT4 chr18 35500000 41800000 Deletion Schizophrenia high-density microarrays 22241247 KC6,LINC00669,LOC284260,MIR5583-1,MIR5583-2,PIK3C3,RIT2,SYT4 chr18 35500000 41800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 KC6,LINC00669,LOC284260,MIR5583-1,MIR5583-2,PIK3C3,RIT2,SYT4 chr18 35500000 76117153 Copy number Breast cancer BAC array 16272173 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,KATNAL2,KC6,KDSR,KIAA1468,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MRO,MYO5B,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 35500000 76117153 Loss Glioblastoma multiforme aCGH 21080181 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,KATNAL2,KC6,KDSR,KIAA1468,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MRO,MYO5B,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 35500000 76117153 Loss Glioblastoma multiforme conventional CGH 21080181 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,KATNAL2,KC6,KDSR,KIAA1468,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MRO,MYO5B,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 35500000 76117153 Loss Seminomas CGH, Comparative expressed sequence hybridisation 18059402 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,KATNAL2,KC6,KDSR,KIAA1468,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MRO,MYO5B,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 35512482 35512562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 35512482 35512584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 35532793 35532892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 3554788 3554870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 35578 9401981 Copy number Lung cancer paired-end sequencing 18438408 ADCYAP1,ANKRD12,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,NDUFV2,PTPRM,RAB12,ROCK1P1,SMCHD1,SOGA2,TGIF1,THOC1,TMEM200C,TWSG1,TYMS,USP14,YES1,ZFP161 chr18 3559620 3561217 Copy number Normal - 20703242 DLGAP1 chr18 3559620 3561217 Copy number Type 2 diabetes ILLumia HumanHap304 BeadChip 21526130 DLGAP1 chr18 3561214 3561509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1 chr18 3561215 3561508 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP1 chr18 3561215 3561508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1 chr18 3562940 3563041 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP1 chr18 3562940 3563041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1 chr18 35645372 36355276 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr18 35672052 35672152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 35692227 35692327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 35736115 35903305 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr18 35744014 35744114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 35744297 35773282 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 35768560 35803463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 35803701 35807300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 3584112 3588350 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DLGAP1 chr18 3584112 3588350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1 chr18 3584112 3588350 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP1 chr18 3584112 3588350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1 chr18 35843215 35843315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 3585765 3646607 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 DLGAP1,DLGAP1-AS1 chr18 35870370 35904617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 35903050 35957936 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 35939907 36125997 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 35965376 35965476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36001255 36001308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 36035524 36035624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36120065 36120165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36144168 36144238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36156724 36156824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36198738 36239936 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 36198738 36240158 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 36212896 36227656 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr18 36260373 36260998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 36271855 38536104 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00669,MIR5583-1,MIR5583-2 chr18 36280484 36280584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 3628534 3628607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 36306784 36306844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 36318801 36318887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36329177 36362917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 36417654 36417754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36454751 37405315 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 LINC00669,MIR5583-1,MIR5583-2 chr18 36512001 36522600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 36512328 36512546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36512536 36512745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36512714 36522021 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr18 36513038 36520815 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 36513038 36520815 Deletion Non-syndromic sensorineural hearing loss 370K1,370K2,Agilent24M 19587683 NOT_FOUND chr18 36513891 36520747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 36513895 36520704 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 36514418 36519387 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 36514418 36519387 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 36514457 36519348 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr18 36514913 36519446 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr18 36530736 36530836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36531370 36531470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36570635 36662367 Gain Stenocardia MACArray Karyo 85K BAC-chips 21860640 NOT_FOUND chr18 36570635 36662367 Gain Vasospasm MACArray Karyo 85K BAC-chips 21860640 NOT_FOUND chr1 8365742 8365842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36600581 40107505 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 KC6,LINC00669,LOC284260,MIR5583-1,MIR5583-2,PIK3C3 chr18 36640251 36640351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 3664755 3664938 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLGAP1 chr18 3664755 3664984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLGAP1 chr18 3667422 4046692 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLGAP1,DLGAP1-AS3 chr18 3667422 4160252 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLGAP1,DLGAP1-AS3 chr18 36678319 36678419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36726294 36731203 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 36766442 36766542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36766557 36766609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 36831597 36866228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00669 chr18 3683751 3703710 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLGAP1 chr18 36876401 36876501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00669 chr18 36880547 36880647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00669 chr18 36938934 36939034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00669 chr18 37075722 37075807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00669 chr18 37094830 37094905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00669 chr18 3711316 3711416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 37116801 37124200 Deletion Glioma mate-paired sequence 20126413 LINC00669 chr18 37117897 37123896 Deletion Normal TaqMan assays 20972442 LINC00669 chr18 37118777 37122323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00669 chr18 37179918 37180002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00669 chr18 37200000 43500000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 EPG5,KC6,LINC00669,LOC284260,MIR4319,MIR5583-1,MIR5583-2,PIK3C3,RIT2,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SYT4 chr18 37200000 78077248 Loss Breast cancer Microarray-based CGH 17133270 ACAA2,ADNP2,ALPK2,ATP5A1,ATP8B1,ATP9B,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,HSBP1L1,IER3IP1,KATNAL2,KC6,KCNG2,KDSR,KIAA1468,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MIR5583-1,MIR5583-2,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,OACYLP,ONECUT2,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PQLC1,PSTPIP2,RAB27B,RAX,RBFA,RIT2,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,TXNL4A,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr1 83727256 83730783 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr18 37351624 37351656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 37358 39626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 37358 39626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 37377938 37423581 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 37397401 37397479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 37436778 37436878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 837446 7888861 Copy number Lung cancer paired-end sequencing 18438408 ACAP3,ACOT7,ACTRT2,AGRN,AJAP1,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf174,C1orf233,C1orf86,CALML6,CAMTA1,CCDC27,CCNL2,CDK11A,CDK11B,CEP104,CHD5,CPSF3L,DFFB,DNAJC11,DVL1,ESPN,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,GPR153,HES2,HES3,HES4,HES5,ICMT,ISG15,KCNAB2,KIAA1751,KLHL17,KLHL21,LOC100129534,LOC100130417,LOC100133445,LOC100133612,LOC115110,LOC148413,LOC254099,LOC284661,LOC728716,LRRC47,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR4252,MIR429,MIR4417,MIR4689,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,NOL9,NPHP4,PANK4,PER3,PEX10,PHF13,PLCH2,PLEKHG5,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF207,RNF223,RPL22,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SMIM1,SSU72,TAS1R1,TAS1R3,THAP3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF25,TNFRSF4,TP73,TP73-AS1,TPRG1L,TTC34,TTLL10,UBE2J2,VAMP3,VWA1,WRAP73,ZBTB48 chr18 37464755 37464845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8374667 8382665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 37529474 37529574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 3762346 3762457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLGAP1 chr18 37653016 37653384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 37741040 37785719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 37789196 37915444 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 37789196 37915444 Gain or loss Cancer - 20668451 NOT_FOUND chr18 37789196 37915444 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 37789196 37915444 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 37789196 37915444 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 37789196 37915444 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 37789197 37915442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 37789197 37915442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 37789197 37915442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 37839687 37840295 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 37851959 37852059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 37865974 37866074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 37874638 37962267 Gain Autism Exome sequencing and CGH 22495309 NOT_FOUND chr18 37885356 39097913 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 KC6 chr18 37925842 37925915 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 8379388 9142502 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CA6,ENO1,ENO1-AS1,RERE,SLC2A5,SLC2A7,SLC45A1 chr18 3801317 3801418 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP1 chr18 3801317 3801418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1 chr18 38017622 38017722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38020242 38020342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38054701 38054801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38104552 38104641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 38104552 38104641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 38126690 38126773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38133 68539 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 38162 38272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 38185219 38200013 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 38185537 38197191 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 38185537 38204956 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 38191191 38191787 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 38191479 38203479 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 38191479 38209827 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 38211234 38215848 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr1 83829256 83829911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 38297768 38297863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38305677 38312392 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr18 38308076 38311650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 38311294 38311765 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 383354 383406 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COLEC12 chr18 38348154 38348259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38348162 38348353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38359129 38388326 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 38435694 38435794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8384389 8404226 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 SLC45A1 chr18 38507692 38507792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38516895 38516995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38561045 38561145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38577189 38949655 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 38577189 38949655 Gain or loss Cancer - 20668451 NOT_FOUND chr18 38577189 38949655 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 38577189 38949655 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 38577189 38949655 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 38577189 38949655 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 38577191 38949655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 38577191 38949655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 38577191 38949655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 38653919 38654019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 3866907 3909812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLGAP1,DLGAP1-AS3 chr18 38683590 38683683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38684928 38729716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 38686583 38686786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38703903 38802042 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 38707961 38708039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38771438 38771533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 38799471 38800953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 3884699 3884805 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP1,DLGAP1-AS3 chr18 3884699 3884805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP1,DLGAP1-AS3 chr18 3888072 4345867 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DLGAP1,DLGAP1-AS3,DLGAP1-AS5 chr18 38928539 41850823 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KC6,LOC284260,PIK3C3,RIT2,SYT4 chr18 38973552 38974339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 83898773 83899675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 83900400 83931956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 8390121 8625340 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 RERE,SLC45A1 chr18 3906195 3906295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 39083071 39083171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KC6 chr18 39086755 76067270 Duplication prenatal diagnosis arrayCGH 22389664 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,KATNAL2,KC6,KDSR,KIAA1468,LINC-ROR,LINC00305,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MRO,MYO5B,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PIK3C3,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RIT2,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,SYT4,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 39101857 39111430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 39101857 39111430 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 39101857 39111430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 39115697 39115797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 39120259 39120354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 39135064 39157329 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 39157645 39157745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 39204861 39204961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 39283801 39288500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 39285543 39286526 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 39329242 39329334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 39343180 39343242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 83936255 83962851 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 8393876 8393966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC45A1 chr1 83946655 83947787 Loss Normal 244K array 17666407 NOT_FOUND chr1 83948193 83948869 Gain Normal 244K array 17666407 NOT_FOUND chr1 83948625 83948869 Gain Normal 244K array 17666407 NOT_FOUND chr18 39535198 39661447 Deletion Prostate cancer aCGH 22341455 PIK3C3 chr18 39547483 39547572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3C3 chr18 39556837 39570963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3C3 chr18 39560073 39586780 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3C3 chr18 39560913 39582280 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3C3 chr18 39566930 39575899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3C3 chr18 39666122 39666227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 39666122 39666228 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 39666122 39666228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 3966646 3966733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 39750515 40572746 LOH Normal High-resolution SNP genotyping 21211785 LOC284260,RIT2 chr1 83977738 83977838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 39813140 40366783 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC284260,RIT2 chr18 3985201 3989400 Deletion Glioma mate-paired sequence 20126413 DLGAP1 chr18 3987015 3987471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLGAP1 chr18 39905546 39905664 Gain and loss Pancreatic cancer SNP array 17952125 LOC284260 chr18 39905546 39905664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284260 chr18 39905546 39905665 Gain and loss Pancreatic cancer SNP array 17952125 LOC284260 chr18 39945276 39945368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284260 chr18 39953655 39953755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284260 chr18 40017938 40030938 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284260 chr18 40019717 40030582 Loss Normal Birdsuite, version 1.5.2 22087296 LOC284260 chr18 40042830 40087578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC284260 chr18 4012700 4012925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLGAP1 chr18 40154859 40155950 Gain and loss Pancreatic cancer SNP array 17952125 LOC284260 chr18 40177443 40177543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284260 chr18 40190000 43530000 Loss Breast cancer aCGH 21509527 EPG5,LOC284260,MIR4319,RIT2,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SYT4 chr18 40228817 40236656 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC284260 chr18 40230706 40236071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284260 chr18 40230856 40235930 Gain Normal 244K array 17666407 LOC284260 chr1 84031925 84031985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84032148 84032241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 40323191 40695656 Deletion Prostate cancer aCGH 22341455 RIT2 chr18 40325830 40325895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIT2 chr18 40366868 41974211 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 RIT2,SYT4 chr18 40399617 40399767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIT2 chr18 4042444 4042986 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP1 chr1 84044491 84044621 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 84047407 84176854 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 40494790 40494877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIT2 chr18 40512479 40557301 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIT2 chr18 40514861 40898771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIT2,SYT4 chr18 40514861 40898771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIT2,SYT4 chr18 40534128 41612612 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RIT2,SYT4 chr18 40535138 40898771 Copy number Autism exome sequencing 22495311 RIT2,SYT4 chr18 40535467 40898771 Gain and loss Pancreatic cancer SNP array 17952125 RIT2,SYT4 chr18 4054644 4655332 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 DLGAP1,DLGAP1-AS5 chr18 40546574 40546674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIT2 chr18 40551692 40551792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIT2 chr18 40565451 40565551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIT2 chr18 40576894 40576994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIT2 chr18 40619567 41225532 LOH Normal High-resolution SNP genotyping 21211785 RIT2,SYT4 chr18 40637227 40682845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIT2 chr18 40678035 40678135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIT2 chr18 40700376 40709511 Copy number Hematopoietic stem cell StepOnePlus Real-Time PCR System 20738155 NOT_FOUND chr18 40709695 40743866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 40728393 41615453 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 SYT4 chr18 40768446 41912886 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 SYT4 chr18 40769779 40769879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 40807971 40808071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 4083863 4095541 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DLGAP1 chr18 40847856 40857614 Deletion Prostate cancer aCGH 22341455 SYT4 chr18 40879415 40880096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 40884975 40885075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 40897839 40897939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8409137 8409187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 40997368 40997468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41015174 41015239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84107645 84237421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 84107645 84237421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41092106 41092807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 41092113 41092725 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 4116939 4266257 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DLGAP1,DLGAP1-AS5 chr18 4120000 5950000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 C18orf42,DLGAP1,DLGAP1-AS5,EPB41L3,LINC00526,LINC00667,LOC645355,MIR3976,TMEM200C,ZFP161 chr18 41210622 41210722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41216566 76117153 Gain Medulloblastoma array-CGH 16783165 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,KATNAL2,KDSR,KIAA1468,LINC-ROR,LINC00305,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MRO,MYO5B,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 4127518 4127618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr1 84129665 95422234 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ABCA4,ABCD3,ARHGAP29,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,DNTTIP2,DR1,EPHX4,EVI5,F3,FAM69A,FLJ27354,FNBP1L,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNG5,GTF2B,HFM1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LPAR3,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR4423,MIR548AP,MIR760,MTF2,ODF2L,PKN2,PRKACB,RBMXL1,RPAP2,RPF1,RPL5,SAMD13,SEP15,SH3GLB1,SLC44A3,SNORA66,SNORD21,SSX2IP,SYDE2,TGFBR3,TMED5,TTLL7,UOX,WDR63,ZNF326,ZNF644,ZNHIT6 chr18 41306259 41350899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 41448780 41517070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41448780 41517070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41458628 41516482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 41486975 41487075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41513101 41517000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 41515002 41515326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 41537106 41537200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41549027 41551841 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 41558147 41585046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41558147 41585046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41558157 41585046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 4155843 4155943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 41577260 41577360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41580030 41580120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41599200 41599279 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 84160929 84161547 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr18 41659501 41680500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 41659543 41676519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41659543 41676519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41659692 41678045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 84166539 84166622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41681573 41801303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41681573 41801303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41684470 41801238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 84171854 96213854 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ABCA4,ABCD3,ALG14,ARHGAP29,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,DNTTIP2,DR1,EPHX4,EVI5,F3,FAM69A,FLJ27354,FLJ31662,FNBP1L,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNG5,GTF2B,HFM1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LPAR3,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR4423,MIR548AP,MIR760,MTF2,ODF2L,PKN2,PRKACB,RBMXL1,RPAP2,RPF1,RPL5,RWDD3,SAMD13,SEP15,SH3GLB1,SLC44A3,SNORA66,SNORD21,SSX2IP,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TTLL7,UOX,WDR63,ZNF326,ZNF644,ZNHIT6 chr18 41762339 41762399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41797713 41842577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 41800000 46400000 Amplification Neuroblastoma Agilent 44K and 244K platform aCGH 21508638 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Copy number Normal - 20680643 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Gain Multiple myeloma CGH, FISH 16461302 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Loss Breast cancer - 16397240 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Loss Non-small cell lung cancer dChip 21829676 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Microdeletion Pilomyxoid astrocytoma BAC-array 17436254 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 46400000 Tripl Mental retardation \N 21062444 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4319,MIR4743,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 41800000 59800000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ACAA2,ALPK2,ATP5A1,ATP8B1,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,GRP,HAUS1,HDHD2,IER3IP1,KATNAL2,LINC-ROR,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TXNL1,WDR7,ZBTB7C,ZNF532 chr18 41800000 59800000 Deletion Colorectal cancer MS markers (18q21) 20709793 ACAA2,ALPK2,ATP5A1,ATP8B1,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,GRP,HAUS1,HDHD2,IER3IP1,KATNAL2,LINC-ROR,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TXNL1,WDR7,ZBTB7C,ZNF532 chr18 41800000 59800000 Gain Multiple myeloma CGH, FISH 16461302 ACAA2,ALPK2,ATP5A1,ATP8B1,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,GRP,HAUS1,HDHD2,IER3IP1,KATNAL2,LINC-ROR,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TXNL1,WDR7,ZBTB7C,ZNF532 chr18 41800000 59800000 Loss Cancer array-based techniques 21183584 ACAA2,ALPK2,ATP5A1,ATP8B1,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,GRP,HAUS1,HDHD2,IER3IP1,KATNAL2,LINC-ROR,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TXNL1,WDR7,ZBTB7C,ZNF532 chr18 41800000 59800000 Translocation Follicular lymphoma aCGH 20505157 ACAA2,ALPK2,ATP5A1,ATP8B1,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,GRP,HAUS1,HDHD2,IER3IP1,KATNAL2,LINC-ROR,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TXNL1,WDR7,ZBTB7C,ZNF532 chr18 41800000 76117153 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,IER3IP1,KATNAL2,KDSR,KIAA1468,LINC-ROR,LINC00305,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4319,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MRO,MYO5B,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 41807620 42006021 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 NOT_FOUND chr18 41817499 41906248 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 41817500 41906224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41817500 41906224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41817501 41906221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 41821023 41821242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41823601 41823909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41823677 41823909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 41823677 41823909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 4182958 4183058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 41850823 42628679 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4319,SETBP1 chr18 41905001 41906500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 41910971 41911063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 41918107 41938197 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 41918108 41938197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41918108 41938197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 41918108 41938197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41930679 41931692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 41938296 41962279 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 41938322 41962297 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 41938323 41962296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41938323 41962296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41953975 41954068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 41955579 41955685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 41955579 41955685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 41955580 41955685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 41963272 41963317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 42007501 42009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 42007985 42100953 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 42007986 42100952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 42007986 42100952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 42049785 42100944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 42057142 42057242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84206533 84206612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 42095727 42130286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 84211119 84242107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 42124001 42592500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4319,SETBP1 chr18 42134467 42761168 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 MIR4319,SETBP1 chr18 42163992 44613022 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP5A1,C18orf25,EPG5,HAUS1,KATNAL2,LOC100506888,LOXHD1,MIR4319,PIAS2,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 42168185 42294335 Gain and loss Pancreatic cancer SNP array 17952125 SETBP1 chr18 42168185 42294781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETBP1 chr18 42168185 42294781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETBP1 chr18 42183493 44188771 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP5A1,C18orf25,EPG5,HAUS1,LOXHD1,MIR4319,PSTPIP2,RNF165,SETBP1,SIGLEC15,SLC14A1,SLC14A2 chr1 84220136 84240135 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 84221132 84256656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 42246802 42279626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SETBP1 chr1 84225657 84245319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 42260137 42648474 Deletion Prostate cancer aCGH 22341455 MIR4319,SETBP1 chr1 84228222 84238783 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 84229410 84239699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 42300001 49000000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,ELAC1,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100287225,LOC100506888,LOXHD1,MAPK4,MBD1,ME2,MEX3C,MIR1539,MIR4319,MIR4320,MIR4743,MIR4744,MRO,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SMAD2,SMAD4,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 42310933 42435624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETBP1 chr18 42310933 42435624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETBP1 chr18 42310935 42435624 Gain and loss Pancreatic cancer SNP array 17952125 SETBP1 chr18 42460804 42460898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SETBP1 chr18 424853 424953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COLEC12 chr18 42513079 42591037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4319,SETBP1 chr18 42513079 42591037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4319,SETBP1 chr18 42513202 42591130 Gain and loss Pancreatic cancer SNP array 17952125 MIR4319,SETBP1 chr1 84254125 84256642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 84255766 84416200 Gain and loss Pancreatic cancer SNP array 17952125 MIR548AP,TTLL7 chr18 42565668 42565768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SETBP1 chr18 42592416 42592752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SETBP1 chr1 84263457 84263937 Gain and loss Pancreatic cancer SNP array 17952125 MIR548AP chr18 42636708 42637057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SETBP1 chr18 42646057 42754121 Gain or loss Breast cancer - 20668451 SETBP1 chr18 42646057 42754121 Gain or loss Cancer - 20668451 SETBP1 chr18 42646057 42754121 Gain or loss Lung cancer - 20668451 SETBP1 chr18 42646057 42754121 Gain or loss Ovarian cancer - 20668451 SETBP1 chr18 42646057 42754121 Gain or loss Pancreas cancer - 20668451 SETBP1 chr18 42646057 42754121 Gain or loss Prostate cancer - 20668451 SETBP1 chr18 42646058 42751464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETBP1 chr18 42646058 42751464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETBP1 chr18 42646394 42751464 Gain and loss Pancreatic cancer SNP array 17952125 SETBP1 chr18 42684905 42684970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 42698818 42831630 Amplification Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 SLC14A2 chr18 42698818 42831630 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 SLC14A2 chr18 4274147 4274247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1,DLGAP1-AS5 chr1 84274266 84274335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AP chr18 42749200 42749300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 42780785 42881656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42780785 42881656 Gain and loss Pancreatic cancer SNP array 17952125 SLC14A2 chr18 42780785 42881656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42781145 42793221 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC14A2 chr18 42796073 42796953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC14A2 chr18 42798587 42799294 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42798652 42799404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42799442 42801306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42800277 42801648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42800537 42801593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42801636 42844331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42801793 42803759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42802656 42804296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42802845 42803699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42804836 42806019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42805538 42807663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42805601 42806917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42805623 42806765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42805903 42807389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42805975 42807107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42806560 42808200 Gain Normal BAC array 16365383 SLC14A2 chr18 42806650 42807545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42806811 42807829 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42807081 42807956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42807278 42813128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42807662 42808580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42807855 42809634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42807903 42820469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42808480 42824029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42808570 42810447 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 SLC14A2 chr18 42808571 42810447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42808571 42810447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42808571 42815633 Gain and loss Pancreatic cancer SNP array 17952125 SLC14A2 chr18 42808656 42823724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42808909 42816287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A2 chr18 42811361 42813622 Gain Normal BAC array 16365383 SLC14A2 chr18 42812941 42815990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42812941 42815990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42876579 44117335 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP5A1,C18orf25,EPG5,HAUS1,LOXHD1,PSTPIP2,RNF165,SIGLEC15,SLC14A1,SLC14A2 chr18 42884503 43841678 LOH Normal High-resolution SNP genotyping 21211785 ATP5A1,C18orf25,EPG5,HAUS1,PSTPIP2,SIGLEC15,SLC14A1,SLC14A2 chr18 42887777 42916808 Gain and loss Pancreatic cancer SNP array 17952125 SLC14A2 chr18 42887780 42930869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42887780 42930869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr1 84290514 84297217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548AP chr18 42935413 42956733 Gain and loss Pancreatic cancer SNP array 17952125 SLC14A2 chr18 42935413 42956743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42935413 42956743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 42936482 42937834 Gain and loss Pancreatic cancer SNP array 17952125 SLC14A2 chr18 42969165 42969241 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC14A2 chr18 4300797 4569102 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DLGAP1 chr18 4300797 4707966 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DLGAP1 chr18 43011492 43029552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 43014811 43014917 Gain and loss Pancreatic cancer SNP array 17952125 SLC14A2 chr18 43014811 43014917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC14A2 chr18 43014813 43014916 Gain and loss Pancreatic cancer SNP array 17952125 SLC14A2 chr1 84302130 84302230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AP chr18 43024315 43426434 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SIGLEC15,SLC14A1,SLC14A2 chr18 43050940 43051020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC14A2 chr18 43073553 43096481 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SLC14A2 chr18 43082519 43082619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC14A2 chr18 43090874 43090970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC14A2 chr1 84311988 84312088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AP chr18 4314711 4314780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLGAP1 chr1 84315970 84316040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AP chr1 84316329 84476765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548AP,TTLL7 chr1 84316329 84476765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AP,TTLL7 chr1 84316332 84476769 Gain or loss Breast cancer - 20668451 MIR548AP,TTLL7 chr1 84316332 84476769 Gain or loss Cancer - 20668451 MIR548AP,TTLL7 chr1 84316332 84476769 Gain or loss Lung cancer - 20668451 MIR548AP,TTLL7 chr1 84316332 84476769 Gain or loss Ovarian cancer - 20668451 MIR548AP,TTLL7 chr1 84316332 84476769 Gain or loss Pancreas cancer - 20668451 MIR548AP,TTLL7 chr1 84316332 84476769 Gain or loss Prostate cancer - 20668451 MIR548AP,TTLL7 chr18 4316 8103527 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ADCYAP1,ARHGAP28,C18orf42,C18orf56,CBX3P2,CETN1,CLUL1,COLEC12,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,ENOSF1,EPB41L3,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MYL12A,MYL12B,MYOM1,NDC80,PTPRM,ROCK1P1,SMCHD1,TGIF1,THOC1,TMEM200C,TYMS,USP14,YES1,ZFP161 chr18 43194765 43263071 Deletion Prostate cancer aCGH 22341455 SLC14A2 chr18 4320210 4325626 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 DLGAP1 chr18 43211951 43212041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC14A2 chr1 84324024 84324504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AP chr18 43286688 43320721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC14A1 chr18 43300899 43300999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 43304091 43332484 Deletion Prostate cancer aCGH 22341455 SLC14A1 chr18 43334567 43334667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 43346148 43347275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 43348973 43349148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 43349270 43350046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 43353893 43354204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 43390000 46370000 Loss Acute lymphoblastic leukemia - 21339820 ATP5A1,C18orf25,CTIF,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,MIR4743,PIAS2,PSTPIP2,RNF165,SIGLEC15,SMAD2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43405544 43422520 Deletion Prostate cancer aCGH 22341455 SIGLEC15 chr18 43408908 43408985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIGLEC15 chr18 43410481 43411221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIGLEC15 chr18 43410565 43411157 Gain and loss Pancreatic cancer SNP array 17952125 SIGLEC15 chr18 43415087 43415180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIGLEC15 chr18 43427573 43547304 Deletion Prostate cancer aCGH 22341455 EPG5 chr18 43435895 43480626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPG5 chr18 43469698 43469781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPG5 chr18 43490500 44141990 Deletion Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 ATP5A1,C18orf25,EPG5,HAUS1,LOXHD1,PSTPIP2,RNF165 chr18 43500000 48200000 Copy number Idiopathic thrombocytopenic purpura References 19566914 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100506888,LOXHD1,MAPK4,MBD1,MIR1539,MIR4320,MIR4743,MIR4744,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43500000 48200000 Deletion Colorectal cancer PCR 16912164 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100506888,LOXHD1,MAPK4,MBD1,MIR1539,MIR4320,MIR4743,MIR4744,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43500000 48200000 Gain Basal cell lymphoma Array CGH 19029149 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100506888,LOXHD1,MAPK4,MBD1,MIR1539,MIR4320,MIR4743,MIR4744,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43500000 48200000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100506888,LOXHD1,MAPK4,MBD1,MIR1539,MIR4320,MIR4743,MIR4744,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43500000 48200000 Gain Prostate cancer Array CGH 16573809 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100506888,LOXHD1,MAPK4,MBD1,MIR1539,MIR4320,MIR4743,MIR4744,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43500000 48200000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100506888,LOXHD1,MAPK4,MBD1,MIR1539,MIR4320,MIR4743,MIR4744,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43500000 48200000 Loss Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100506888,LOXHD1,MAPK4,MBD1,MIR1539,MIR4320,MIR4743,MIR4744,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43500000 48200000 Loss Gastric cancer Array CGH 16891809 ACAA2,ATP5A1,C18orf25,C18orf32,CCDC11,CTIF,CXXC1,DYM,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100506888,LOXHD1,MAPK4,MBD1,MIR1539,MIR4320,MIR4743,MIR4744,MYO5B,PIAS2,PSTPIP2,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL,ZBTB7C chr18 43500000 53800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACAA2,ATP5A1,C18orf25,C18orf26,C18orf32,C18orf54,CCDC11,CCDC68,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,HAUS1,HDHD2,IER3IP1,KATNAL2,LIPG,LOC100287225,LOC100505474,LOC100506888,LOXHD1,MAPK4,MBD1,MBD2,ME2,MEX3C,MIR1539,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,PIAS2,POLI,PSTPIP2,RAB27B,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,ZBTB7C chr18 43500000 61600000 Gain Basal cell lymphoma CGH 17170743 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,GRP,HAUS1,HDHD2,IER3IP1,KATNAL2,KDSR,KIAA1468,LINC-ROR,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SKA1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TNFRSF11A,TXNL1,VPS4B,WDR7,ZBTB7C,ZCCHC2,ZNF532 chr18 43500000 61600000 Gain Follicular lymphoma CGH 17170743 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,GRP,HAUS1,HDHD2,IER3IP1,KATNAL2,KDSR,KIAA1468,LINC-ROR,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SKA1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TNFRSF11A,TXNL1,VPS4B,WDR7,ZBTB7C,ZCCHC2,ZNF532 chr18 43500000 61600000 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 ACAA2,ALPK2,ATP5A1,ATP8B1,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CPLX4,CTIF,CXXC1,DCC,DYM,ELAC1,EPG5,FECH,GRP,HAUS1,HDHD2,IER3IP1,KATNAL2,KDSR,KIAA1468,LINC-ROR,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC100506888,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4320,MIR4529,MIR4743,MIR4744,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PHLPP1,PIAS2,PIGN,PMAIP1,POLI,PSTPIP2,RAB27B,RAX,RNF152,RNF165,RPL17,RPL17-C18ORF32,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SKA1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TNFRSF11A,TXNL1,VPS4B,WDR7,ZBTB7C,ZCCHC2,ZNF532 chr18 43500000 78077248 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ACAA2,ADNP2,ALPK2,ATP5A1,ATP8B1,ATP9B,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,HSBP1L1,IER3IP1,KATNAL2,KCNG2,KDSR,KIAA1468,LINC-ROR,LINC00305,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,OACYLP,ONECUT2,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PMAIP1,POLI,PQLC1,PSTPIP2,RAB27B,RAX,RBFA,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SKA1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,TXNL4A,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 43500000 78077248 Loss Endometrioid adenocarcinoma CGH 16974079 ACAA2,ADNP2,ALPK2,ATP5A1,ATP8B1,ATP9B,BCL2,BOD1L2,C18orf25,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTDP1,CTIF,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,EPG5,FAM69C,FBXO15,FECH,GALR1,GRP,HAUS1,HDHD2,HMSD,HSBP1L1,IER3IP1,KATNAL2,KCNG2,KDSR,KIAA1468,LINC-ROR,LINC00305,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOXHD1,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4320,MIR4529,MIR4743,MIR4744,MIR5011,MRO,MYO5B,NARS,NEDD4L,NETO1,NFATC1,OACYLP,ONECUT2,PARD6G,PARD6G-AS1,PHLPP1,PIAS2,PIGN,PMAIP1,POLI,PQLC1,PSTPIP2,RAB27B,RAX,RBFA,RNF152,RNF165,RPL17,RPL17-C18ORF32,RTTN,SALL3,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SKA1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,ST8SIA5,STARD6,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,TXNL4A,VPS4B,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 43546921 43547161 Gain and loss Pancreatic cancer SNP array 17952125 EPG5 chr18 43546921 43547161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPG5 chr18 4355753 4355882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 4355871 4356086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP1 chr18 43563501 43652249 Deletion Prostate cancer aCGH 22341455 PSTPIP2 chr1 84360394 84360494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AP,TTLL7 chr18 43613463 43711510 Gain or loss Breast cancer - 20668451 ATP5A1,HAUS1,PSTPIP2 chr18 43613463 43711510 Gain or loss Cancer - 20668451 ATP5A1,HAUS1,PSTPIP2 chr18 43613463 43711510 Gain or loss Lung cancer - 20668451 ATP5A1,HAUS1,PSTPIP2 chr18 43613463 43711510 Gain or loss Ovarian cancer - 20668451 ATP5A1,HAUS1,PSTPIP2 chr18 43613463 43711510 Gain or loss Pancreas cancer - 20668451 ATP5A1,HAUS1,PSTPIP2 chr18 43613463 43711510 Gain or loss Prostate cancer - 20668451 ATP5A1,HAUS1,PSTPIP2 chr18 43613464 43710924 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP5A1,HAUS1,PSTPIP2 chr18 43613464 43711510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5A1,HAUS1,PSTPIP2 chr18 43613464 43711510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5A1,HAUS1,PSTPIP2 chr18 43614000 43614287 Gain and loss Pancreatic cancer SNP array 17952125 PSTPIP2 chr18 43616812 43617065 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSTPIP2 chr18 43621608 43711221 Gain and loss Pancreatic cancer SNP array 17952125 ATP5A1,HAUS1,PSTPIP2 chr18 43633612 43633805 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PSTPIP2 chr18 43638400 43661977 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PSTPIP2 chr18 43664109 43684198 Deletion Prostate cancer aCGH 22341455 ATP5A1 chr18 43684297 43708298 Deletion Prostate cancer aCGH 22341455 HAUS1 chr18 43693020 43695188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HAUS1 chr18 43710501 43712500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 43743995 43744090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 43753638 43753733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 43753987 43846954 Deletion Prostate cancer aCGH 22341455 C18orf25 chr18 437761 437851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COLEC12 chr18 43781001 43831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C18orf25 chr18 43807746 43821492 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C18orf25 chr18 43807746 43821492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C18orf25 chr18 43809629 43821476 Gain and loss Pancreatic cancer SNP array 17952125 C18orf25 chr18 43822359 44789979 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C18orf25,HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,PIAS2,RNF165,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 43823075 43857457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C18orf25 chr18 43831001 44370500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C18orf25,LOXHD1,RNF165,ST8SIA5 chr18 43874894 43874994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 43879703 43879803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 43914186 44040782 Deletion Prostate cancer aCGH 22341455 RNF165 chr18 43914793 43915167 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF165 chr18 43950153 43950259 Gain and loss Pancreatic cancer SNP array 17952125 RNF165 chr18 43950153 43950259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF165 chr18 43971000 45322000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 HDHD2,IER3IP1,KATNAL2,LOC100506888,LOXHD1,PIAS2,RNF165,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr1 84401839 84401939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTLL7 chr18 44032670 44033206 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF165 chr18 44032670 44033206 Gain and loss Pancreatic cancer SNP array 17952125 RNF165 chr18 44039629 44039892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF165 chr18 44056934 44236995 Deletion Prostate cancer aCGH 22341455 LOXHD1 chr18 44089239 44089339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOXHD1 chr18 44172959 44173021 Gain and loss Pancreatic cancer SNP array 17952125 LOXHD1 chr1 84422095 84422516 Gain and loss Pancreatic cancer SNP array 17952125 TTLL7 chr18 44239189 44613022 Gain small cell lung cancer Real-time Quantitative PCR 17426248 KATNAL2,LOC100506888,PIAS2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 44246938 44247038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 44250142 44250458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 44255856 44255969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 44255856 44255969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 44255880 44255969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 44258930 44259259 Gain and loss Pancreatic cancer SNP array 17952125 ST8SIA5 chr18 44259080 44337038 Deletion Prostate cancer aCGH 22341455 ST8SIA5 chr18 44290789 44291672 Amplification Medulloblastoma Illumina SNP arrays 21163964 ST8SIA5 chr18 44292997 44293088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST8SIA5 chr18 44319424 44643582 Deletion Intellectual disability 100k SNP Array 21811512 HDHD2,KATNAL2,LOC100506888,PIAS2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 44319424 44643582 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 HDHD2,KATNAL2,LOC100506888,PIAS2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 44319425 44643576 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HDHD2,KATNAL2,LOC100506888,PIAS2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 44319425 44643576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDHD2,KATNAL2,LOC100506888,PIAS2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 44319425 44643576 Gain and loss Pancreatic cancer SNP array 17952125 HDHD2,KATNAL2,LOC100506888,PIAS2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 44319425 44643576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDHD2,KATNAL2,LOC100506888,PIAS2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL chr18 44370501 44797000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDHD2,IER3IP1,KATNAL2,LOC100506888,PIAS2,TCEB3B,TCEB3C,TCEB3CL chr18 44392059 44497465 Deletion Prostate cancer aCGH 22341455 PIAS2 chr18 44400000 44590000 Gain Breast cancer aCGH 21509527 KATNAL2,LOC100506888,PIAS2,TCEB3B,TCEB3C,TCEB3CL chr18 44413350 44413427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIAS2 chr18 44433552 44438066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIAS2 chr18 44439982 44455515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIAS2 chr18 44441317 44466028 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIAS2 chr18 44447753 44457146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIAS2 chr18 44502429 44596440 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KATNAL2,LOC100506888,TCEB3B,TCEB3C,TCEB3CL chr18 44526786 44628613 Deletion Prostate cancer aCGH 22341455 KATNAL2,LOC100506888,TCEB3B,TCEB3C,TCEB3CL chr18 44546730 44547663 Gain Normal 244K array 17666407 KATNAL2 chr1 84455025 84455159 Gain and loss Pancreatic cancer SNP array 17952125 TTLL7 chr1 84455025 84455161 Gain and loss Pancreatic cancer SNP array 17952125 TTLL7 chr1 8445590 81688407 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 AADACL3,AADACL4,ACADM,ACOT11,ACTL8,ADC,ADPRHL2,AGBL4,AGMAT,AGTRAP,AHDC1,AIM1L,AK2,AK4,AK5,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG6,ALPL,ANGPTL3,ANGPTL7,ANKRD13C,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BSND,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf151-NBL1,C1orf158,C1orf168,C1orf172,C1orf173,C1orf177,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf50,C1orf63,C1orf64,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CAMK2N1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC28B,CCDC30,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDCP2,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP85,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF3R,CSMD2,CTH,CTNNBIP1,CTPS1,CTRC,CYB5RL,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DAB1,DCDC2B,DDI2,DDOST,DEM1,DEPDC1,DFFA,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJB4,DNAJC16,DNAJC6,DNAJC8,DNALI1,DOCK7,DPH2,DRAXIN,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM43B,FAM46B,FAM54B,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ37453,FNDC5,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FUBP1,FUCA1,GADD45A,GALE,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GMEB1,GNG12,GNG12-AS1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR157,GPR3,GPX7,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HEYL,HHLA3,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HSD52,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KNCN,KPNA6,KTI12,L1TD1,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00339,LINC00466,LOC100128071,LOC100129924,LOC100130557,LOC100131060,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC149086,LOC284551,LOC284632,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC729041,LOC729059,LRP8,LRRC38,LRRC40,LRRC41,LRRC42,LRRC7,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MFAP2,MFN2,MFSD2A,MGC27382,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR186,MIR1976,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4253,MIR4254,MIR4255,MIR4420,MIR4422,MIR4632,MIR4684,MIR4695,MIR4711,MIR4781,MIR4794,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MOB3C,MPL,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MYCBP,MYCL1,MYOM3,MYSM1,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OMA1,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PAQR7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PEX14,PGD,PGM1,PHACTR4,PHC2,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLEKHM2,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PRDX1,PRKAA2,PRPF38A,PSMB2,PTAFR,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF220,RNU11,ROR1,RPA2,RPE65,RPL11,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SCARNA1,SCMH1,SCP2,SDC3,SDHB,SELRC1,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SKINTL,SLC1A7,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35D1,SLC44A5,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAL1,TARDBP,TAS1R2,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM53,TMEM54,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TNFRSF1B,TNFRSF8,TNNI3K,TOE1,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC39A,TTC4,TXLNA,TXNDC12,TYW3,UBE2U,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,VPS13D,VWA5B1,WASF2,WDR65,WDR78,WDTC1,WLS,WNT4,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr18 44587863 44587968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KATNAL2 chr1 84462501 84464000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTLL7 chr1 84462534 84521313 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 TTLL7 chr18 44633780 44676870 Deletion Prostate cancer aCGH 22341455 HDHD2 chr18 44634180 44765784 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 HDHD2,IER3IP1 chr18 44641350 44642524 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 HDHD2 chr1 8446447 8446637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RERE chr18 44681412 44702744 Deletion Prostate cancer aCGH 22341455 IER3IP1 chr18 44700220 44731079 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 IER3IP1 chr18 44700222 44731079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IER3IP1 chr18 44700222 44731079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IER3IP1 chr18 44700222 44731079 Gain and loss Pancreatic cancer SNP array 17952125 IER3IP1 chr18 44700222 44731079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IER3IP1 chr18 4473893 4506658 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 44746292 44775553 Deletion Prostate cancer aCGH 22341455 NOT_FOUND chr18 44752571 44752671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 44764374 45785476 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 SMAD2,ZBTB7C chr18 44774027 44788908 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 NOT_FOUND chr18 44783737 44829241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 44797001 44808000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 44799544 44800083 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 84480375 84480441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 44808001 44812500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 44819544 44819644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 44824169 45241077 Amplification Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr18 44824170 45241077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 44824170 45241077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 44824172 45241077 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 44824172 45241077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 84482601 84490400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 84482662 84483083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 84482662 84483083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 4483506 4483606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 44843550 44843650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84484594 84488453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 84484742 84488508 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 84484742 84488508 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr18 44896124 44896224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 4494667 4511167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 44953566 44953666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 44962588 44962672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 44980965 45011785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 45020105 45020185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 4503854 4505325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 84512289 84512389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84515592 84515728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45160100 45160198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45181903 45182003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45233019 45233599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 45251209 45272914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 45251687 45259299 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 45251697 45259309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 45251724 45257350 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 4525388 4526729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 4525436 4526716 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 45262026 45267611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 45262027 45267602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45262027 45267602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45262027 45267612 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 45262027 45272904 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 45265141 45266966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 84526749 84559211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKACB chr18 45267741 45267790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45269602 45269692 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 45269613 45269676 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 45269613 45269676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45269794 45271812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45269794 45271812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45271650 45271715 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 45271651 45271715 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 45271651 45271715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45272031 45272097 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 45272032 45272097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 45272032 45272097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45273850 45274171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 45275483 45277251 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 45282024 47194369 Gain Asthma Illumina 550K SNP array 20841430 C18orf32,CTIF,DYM,LIPG,MIR1539,MIR4743,MIR4744,RPL17,RPL17-C18ORF32,SMAD2,SMAD7,SNORD58A,SNORD58B,SNORD58C,ZBTB7C chr18 45329109 45329209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45342424 45373276 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SMAD2 chr18 45342425 45373276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMAD2 chr18 45342425 45373276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMAD2 chr18 45342428 45373272 Gain and loss Pancreatic cancer SNP array 17952125 SMAD2 chr18 45359465 45457514 Deletion Prostate cancer aCGH 22341455 SMAD2 chr1 84536633 84589067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKACB chr1 84536633 84589067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKACB chr18 45414433 45982418 LOH Normal High-resolution SNP genotyping 21211785 SMAD2,ZBTB7C chr18 45430751 45430851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMAD2 chr18 45454588 45454688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMAD2 chr1 84549677 84549766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKACB chr18 45541139 45541239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45547065 45547106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45547245 45547364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45553732 45567493 Deletion Prostate cancer aCGH 22341455 ZBTB7C chr18 45563873 45593900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7C chr18 45563873 45593900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7C chr18 45563873 45594249 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB7C chr18 45564641 45564713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB7C chr18 45572501 45928259 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ZBTB7C chr18 45594501 45594644 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB7C chr18 45594501 45594644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7C chr18 45594729 45594811 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB7C chr18 45594729 45594811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7C chr18 45603098 45975382 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZBTB7C chr18 45603099 45975382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7C chr18 45603099 45975382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7C chr18 45603184 45975176 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB7C chr18 45651923 45652034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7C chr18 45651925 45652034 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB7C chr18 45651927 45652034 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB7C chr18 45670933 46833413 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CTIF,DYM,MIR4743,MIR4744,SMAD7 chr1 84567481 84567566 Gain and loss Pancreatic cancer SNP array 17952125 PRKACB chr18 45679509 45679609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45681156 45699010 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 45689153 45689242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45694412 45694512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45715341 45753850 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 45726634 45726757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 45726650 45726757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 45726669 45726756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 45748541 45748610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84576236 84592712 Gain and loss Pancreatic cancer SNP array 17952125 PRKACB chr18 45793538 45793638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45807636 46528403 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTIF,MIR4743,SMAD7 chr18 4585045 4585145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45907725 45907825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45934806 45977632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 45936564 45936649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45942488 45954440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 45947001 45954200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 45948971 45952385 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 45948972 45952380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 45948997 45952542 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr18 45948997 45952542 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 45962382 46018071 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 45967097 45967187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 45987366 45987643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 45987366 45987643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 46007564 46046863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 46007564 46046863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 46007564 46046863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 84603699 84636102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKACB chr1 84603699 84636102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKACB chr18 46049214 46061844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 46049215 46062142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 46049215 46062142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 46056475 46056575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 46062713 46068690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTIF chr18 46062713 46068690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTIF chr18 46062717 46068690 Gain and loss Pancreatic cancer SNP array 17952125 CTIF chr18 46065426 46389587 Deletion Prostate cancer aCGH 22341455 CTIF,MIR4743 chr18 46065501 46068500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTIF chr18 46075696 46091043 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTIF chr18 46081464 51919972 Deletion Esophageal cancer affymetrix genechip human mapping 281K Nsp arrays 21851588 ACAA2,C18orf32,C18orf54,CCDC11,CTIF,CXXC1,DCC,DYM,ELAC1,LIPG,LOC100287225,MAPK4,MBD1,MBD2,ME2,MEX3C,MIR1539,MIR4320,MIR4743,MIR4744,MRO,MYO5B,POLI,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,STARD6 chr18 46087934 46088034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTIF chr18 46099372 46099476 Gain and loss Pancreatic cancer SNP array 17952125 CTIF chr18 46099372 46099476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTIF chr18 46112634 46138579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTIF chr18 46124302 46130354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTIF chr1 84612492 84612592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKACB chr18 46136754 51150723 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ACAA2,C18orf32,CCDC11,CTIF,CXXC1,DCC,DYM,ELAC1,LIPG,LOC100287225,MAPK4,MBD1,ME2,MEX3C,MIR1539,MIR4320,MIR4743,MIR4744,MRO,MYO5B,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD4,SMAD7,SNORD58A,SNORD58B,SNORD58C chr18 46141196 46165629 Loss Autism - 20841430 CTIF chr18 46155389 46174536 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CTIF chr18 46155390 46174532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTIF chr18 46155390 46174532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTIF chr18 46156199 46172615 Gain and loss Pancreatic cancer SNP array 17952125 CTIF chr18 46165017 46165272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTIF chr18 46172638 49935241 Deletion Cancer Affymetrix 250K Sty array 20164920 ACAA2,C18orf32,CCDC11,CTIF,CXXC1,DCC,DYM,ELAC1,LIPG,LOC100287225,MAPK4,MBD1,ME2,MEX3C,MIR1539,MIR4320,MIR4743,MIR4744,MRO,MYO5B,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD4,SMAD7,SNORD58A,SNORD58B,SNORD58C chr18 46181309 46181416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTIF chr18 46198388 46198517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTIF chr18 46218628 46236667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTIF chr18 46220306 46242797 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTIF chr18 46225113 46231673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTIF chr18 46228982 46239080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTIF chr18 46238554 46238994 Gain and loss Pancreatic cancer SNP array 17952125 CTIF chr18 46257191 46257291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTIF chr18 46264733 46264833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTIF chr1 84628048 84628133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKACB chr18 46320404 46320500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTIF chr18 46340481 46512194 Gain or loss Breast cancer - 20668451 CTIF,SMAD7 chr18 46340481 46512194 Gain or loss Cancer - 20668451 CTIF,SMAD7 chr18 46340481 46512194 Gain or loss Lung cancer - 20668451 CTIF,SMAD7 chr18 46340481 46512194 Gain or loss Ovarian cancer - 20668451 CTIF,SMAD7 chr18 46340481 46512194 Gain or loss Pancreas cancer - 20668451 CTIF,SMAD7 chr18 46340481 46512194 Gain or loss Prostate cancer - 20668451 CTIF,SMAD7 chr18 46340482 46512186 Gain and loss Pancreatic cancer SNP array 17952125 CTIF,SMAD7 chr18 46340482 46512194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTIF,SMAD7 chr18 46340482 46512194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTIF,SMAD7 chr1 84636803 84653279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKACB chr1 84636803 84653279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKACB chr18 46400000 52000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAA2,C18orf32,C18orf54,CCDC11,CXXC1,DCC,DYM,ELAC1,LIPG,LOC100287225,MAPK4,MBD1,MBD2,ME2,MEX3C,MIR1539,MIR4320,MIR4744,MRO,MYO5B,POLI,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,STARD6 chr18 46400000 52000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAA2,C18orf32,C18orf54,CCDC11,CXXC1,DCC,DYM,ELAC1,LIPG,LOC100287225,MAPK4,MBD1,MBD2,ME2,MEX3C,MIR1539,MIR4320,MIR4744,MRO,MYO5B,POLI,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,STARD6 chr18 46400000 52000000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 ACAA2,C18orf32,C18orf54,CCDC11,CXXC1,DCC,DYM,ELAC1,LIPG,LOC100287225,MAPK4,MBD1,MBD2,ME2,MEX3C,MIR1539,MIR4320,MIR4744,MRO,MYO5B,POLI,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,STARD6 chr18 46400000 52000000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ACAA2,C18orf32,C18orf54,CCDC11,CXXC1,DCC,DYM,ELAC1,LIPG,LOC100287225,MAPK4,MBD1,MBD2,ME2,MEX3C,MIR1539,MIR4320,MIR4744,MRO,MYO5B,POLI,RPL17,RPL17-C18ORF32,SCARNA17,SKA1,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,STARD6 chr18 46400000 76117153 Loss Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 ACAA2,ALPK2,ATP8B1,BCL2,BOD1L2,C18orf26,C18orf32,C18orf54,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CXXC1,CYB5A,DCC,DOK6,DSEL,DYM,ELAC1,FAM69C,FBXO15,FECH,GALR1,GRP,HMSD,KDSR,KIAA1468,LINC-ROR,LINC00305,LIPG,LMAN1,LOC100131655,LOC100287225,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MAPK4,MBD1,MBD2,MBP,MC4R,ME2,MEX3C,MIR122,MIR1539,MIR3591,MIR4320,MIR4529,MIR4744,MIR5011,MRO,MYO5B,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,POLI,RAB27B,RAX,RNF152,RPL17,RPL17-C18ORF32,RTTN,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SKA1,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SOCS6,ST8SIA3,STARD6,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 46404397 46439155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 46446222 46477080 Deletion Prostate cancer aCGH 22341455 SMAD7 chr18 46458360 46458448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMAD7 chr18 46520847 46520942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 4655332 7058084 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARHGAP28,C18orf42,EPB41L3,L3MBTL4,LAMA1,LINC00526,LINC00667,LINC00668,LOC100130480,LOC645355,MIR3976,MIR4317,TMEM200C,ZFP161 chr1 84655561 84657326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKACB chr18 46556087 46556156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84656971 84675382 Gain and loss Pancreatic cancer SNP array 17952125 PRKACB chr18 46570171 46987078 Deletion Prostate cancer aCGH 22341455 DYM,MIR4744 chr18 46575487 46600432 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 DYM,MIR4744 chr18 46578572 46605731 Gain and loss Pancreatic cancer SNP array 17952125 DYM chr18 46578572 46605752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46578572 46605752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46583611 46583711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYM chr18 4663080 6830148 Deletion Obesity Illumina SNP array 20622171 C18orf42,EPB41L3,L3MBTL4,LINC00526,LINC00667,LOC100130480,LOC645355,MIR3976,MIR4317,TMEM200C,ZFP161 chr18 4665411 4700869 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 46659432 46728258 Copy number Normal - 20680643 DYM chr18 46659433 46728256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46659433 46728256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46659488 46728256 Gain and loss Pancreatic cancer SNP array 17952125 DYM chr18 46700000 46950000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 DYM chr18 467310 796252 Gain Bladder cancer array-CGH 21909424 C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,TYMS,YES1 chr18 46739635 46739747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46739637 46739747 Gain and loss Pancreatic cancer SNP array 17952125 DYM chr18 46739639 46739745 Gain and loss Pancreatic cancer SNP array 17952125 DYM chr18 46748384 46768488 Copy number Normal - 20680643 DYM chr18 46748385 46768488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46748385 46768488 Gain and loss Pancreatic cancer SNP array 17952125 DYM chr18 46748385 46768488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYM chr1 84676113 84684264 Gain and loss Pancreatic cancer SNP array 17952125 PRKACB chr18 46765510 46768017 Deletion Breast cancer Illumina 1M duo array 20393555 DYM chr18 46808599 46858133 Amplification or deletion Cancer Array CGH 17440070 DYM chr18 46810580 46865409 Copy number Normal - 20680643 DYM chr18 46810580 46865409 Gain or loss Breast cancer - 20668451 DYM chr18 46810580 46865409 Gain or loss Cancer - 20668451 DYM chr18 46810580 46865409 Gain or loss Lung cancer - 20668451 DYM chr18 46810580 46865409 Gain or loss Ovarian cancer - 20668451 DYM chr18 46810580 46865409 Gain or loss Pancreas cancer - 20668451 DYM chr18 46810580 46865409 Gain or loss Prostate cancer - 20668451 DYM chr18 46810580 46865409 Loss Colorectal cancer SNP arrays 22014273 DYM chr18 46810611 46860139 Gain and loss Pancreatic cancer SNP array 17952125 DYM chr18 46810611 46860139 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 DYM chr18 46810611 46865413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46810611 46865413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46819615 46820385 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DYM chr18 46827662 46829051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYM chr18 46831334 46831434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYM chr18 46836832 46847505 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DYM chr1 84684034 84730792 Gain and loss Pancreatic cancer SNP array 17952125 PRKACB chr18 4684041 4717824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 84684430 84719736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKACB chr18 46857145 46858623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYM chr18 46887120 46887414 Gain and loss Pancreatic cancer SNP array 17952125 DYM chr18 46887120 46887414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46887122 46887414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46907325 46907425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYM chr18 46939466 47762354 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACAA2,C18orf32,CCDC11,DYM,LIPG,MIR1539,MIR4320,MYO5B,RPL17,RPL17-C18ORF32,SCARNA17,SNORD58A,SNORD58B,SNORD58C chr18 46954917 46977688 Copy number Lung cancer - 20668451 DYM chr18 46954917 46977688 Gain or loss Breast cancer - 20668451 DYM chr18 46954917 46977688 Gain or loss Cancer - 20668451 DYM chr18 46954917 46977688 Gain or loss Lung cancer - 20668451 DYM chr18 46954917 46977688 Gain or loss Ovarian cancer - 20668451 DYM chr18 46954917 46977688 Gain or loss Pancreas cancer - 20668451 DYM chr18 46954917 46977688 Gain or loss Prostate cancer - 20668451 DYM chr18 46954918 46977688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46954918 46977688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYM chr18 46954920 46977380 Gain and loss Pancreatic cancer SNP array 17952125 DYM chr18 46959903 46959968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYM chr1 84700000 88100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCL10,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,GNG5,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,ODF2L,PRKACB,RPF1,SAMD13,SEP15,SH3GLB1,SSX2IP,SYDE2,UOX,WDR63,ZNHIT6 chr1 84700000 88100000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 121 samples 21899760 BCL10,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,GNG5,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,ODF2L,PRKACB,RPF1,SAMD13,SEP15,SH3GLB1,SSX2IP,SYDE2,UOX,WDR63,ZNHIT6 chr1 84700000 88100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCL10,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,GNG5,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,ODF2L,PRKACB,RPF1,SAMD13,SEP15,SH3GLB1,SSX2IP,SYDE2,UOX,WDR63,ZNHIT6 chr1 84700000 88100000 Gain Multiple myeloma CGH, FISH 16461302 BCL10,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,GNG5,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,ODF2L,PRKACB,RPF1,SAMD13,SEP15,SH3GLB1,SSX2IP,SYDE2,UOX,WDR63,ZNHIT6 chr1 84700000 88100000 Loss Non-small cell lung cancer - 21385341 BCL10,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,GNG5,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,ODF2L,PRKACB,RPF1,SAMD13,SEP15,SH3GLB1,SSX2IP,SYDE2,UOX,WDR63,ZNHIT6 chr1 84700000 88100000 Loss Prostate cancer Array CGH 16573809 BCL10,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,GNG5,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,ODF2L,PRKACB,RPF1,SAMD13,SEP15,SH3GLB1,SSX2IP,SYDE2,UOX,WDR63,ZNHIT6 chr1 84700000 92000000 Amplification Medulloblastoma SNP arrays 21979893 BARHL2,BCL10,C1orf180,C1orf52,CCBL2,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,FLJ27354,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GEMIN8P4,GNG5,GTF2B,HFM1,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR4423,ODF2L,PKN2,PRKACB,RBMXL1,RPF1,SAMD13,SEP15,SH3GLB1,SSX2IP,SYDE2,UOX,WDR63,ZNF326,ZNF644,ZNHIT6 chr1 84700000 94500000 Copy number Breast cancer - 16397240 ABCA4,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,DNTTIP2,DR1,EPHX4,EVI5,FAM69A,FLJ27354,FNBP1L,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNG5,GTF2B,HFM1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC646626,LPAR3,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR4423,MIR760,MTF2,ODF2L,PKN2,PRKACB,RBMXL1,RPAP2,RPF1,RPL5,SAMD13,SEP15,SH3GLB1,SNORA66,SNORD21,SSX2IP,SYDE2,TGFBR3,TMED5,UOX,WDR63,ZNF326,ZNF644,ZNHIT6 chr1 84700000 94500000 Gain Multiple myeloma CGH, FISH 16461302 ABCA4,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,DNTTIP2,DR1,EPHX4,EVI5,FAM69A,FLJ27354,FNBP1L,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNG5,GTF2B,HFM1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC646626,LPAR3,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR4423,MIR760,MTF2,ODF2L,PKN2,PRKACB,RBMXL1,RPAP2,RPF1,RPL5,SAMD13,SEP15,SH3GLB1,SNORA66,SNORD21,SSX2IP,SYDE2,TGFBR3,TMED5,UOX,WDR63,ZNF326,ZNF644,ZNHIT6 chr1 84700000 94500000 Loss Glioblastoma multiforme conventional CGH 21080181 ABCA4,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf180,C1orf52,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,DNASE2B,DNTTIP2,DR1,EPHX4,EVI5,FAM69A,FLJ27354,FNBP1L,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNG5,GTF2B,HFM1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC646626,LPAR3,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR4423,MIR760,MTF2,ODF2L,PKN2,PRKACB,RBMXL1,RPAP2,RPF1,RPL5,SAMD13,SEP15,SH3GLB1,SNORA66,SNORD21,SSX2IP,SYDE2,TGFBR3,TMED5,UOX,WDR63,ZNF326,ZNF644,ZNHIT6 chr18 47008029 47013600 Deletion Prostate cancer aCGH 22341455 C18orf32,RPL17-C18ORF32 chr18 47014853 47018905 Deletion Prostate cancer aCGH 22341455 RPL17,RPL17-C18ORF32,SNORD58A,SNORD58B,SNORD58C chr18 47018033 47018098 Deletion Prostate cancer aCGH 22341455 RPL17,RPL17-C18ORF32,SNORD58B chr18 47019010 47063759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 47064101 47064258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 47064101 47064264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 47064185 47064285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 47087101 63872069 Loss Developmental delay affymetrix genechip 500K/SNP 6.76 array 21147756 ACAA2,ALPK2,ATP8B1,BCL2,BOD1L2,C18orf26,C18orf54,CCBE1,CCDC11,CCDC68,CDH20,CDH7,CPLX4,CXXC1,DCC,ELAC1,FECH,GRP,HMSD,KDSR,KIAA1468,LINC-ROR,LINC00305,LIPG,LMAN1,LOC100287225,LOC100505474,LOC100505549,LOC284294,LOC400654,MALT1,MAPK4,MBD1,MBD2,MC4R,ME2,MEX3C,MIR122,MIR3591,MIR4320,MIR4529,MRO,MYO5B,NARS,NEDD4L,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,POLI,RAB27B,RAX,RNF152,SCARNA17,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SKA1,SMAD4,SNORA37,ST8SIA3,STARD6,TCF4,TNFRSF11A,TXNL1,VPS4B,WDR7,ZCCHC2,ZNF532 chr18 47088426 47119277 Deletion Prostate cancer aCGH 22341455 LIPG chr18 47089880 47089980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIPG chr18 47109562 47109644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIPG chr18 47172879 47206753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 47174275 49624685 Deletion Myelodysplastic syndrome - 21251322 ACAA2,CCDC11,CXXC1,ELAC1,LOC100287225,MAPK4,MBD1,ME2,MEX3C,MIR4320,MRO,MYO5B,SCARNA17,SKA1,SMAD4 chr1 84717530 84735949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 47236482 47236582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 47278885 47278917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8472834 8473913 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RERE chr18 47309873 47340250 Deletion Prostate cancer aCGH 22341455 ACAA2 chr1 84732243 84752119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 47326715 47326814 Gain and loss Pancreatic cancer SNP array 17952125 ACAA2 chr18 47326715 47326814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAA2 chr18 47327467 50378977 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACAA2,CCDC11,CXXC1,DCC,ELAC1,LOC100287225,MAPK4,MBD1,ME2,MEX3C,MIR4320,MRO,MYO5B,SCARNA17,SKA1,SMAD4 chr18 47340392 47340812 Deletion Prostate cancer aCGH 22341455 SCARNA17 chr18 47349155 47721450 Deletion Prostate cancer aCGH 22341455 MIR4320,MYO5B chr1 84736603 84744831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 84736603 84744831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 47402253 47402353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5B chr18 47420263 47420353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5B chr18 47439831 52280653 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1122K arrays 21546498 C18orf26,C18orf54,CCDC11,CXXC1,DCC,ELAC1,LOC100287225,MAPK4,MBD1,MBD2,ME2,MEX3C,MIR4320,MRO,MYO5B,POLI,SKA1,SMAD4,SNORA37,STARD6 chr1 84744562 84804463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAMD13 chr1 84744562 84804463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMD13 chr18 47448901 47454500 Deletion Glioma mate-paired sequence 20126413 MYO5B chr18 47450357 47453035 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MYO5B chr18 47465049 47481167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO5B chr18 47468209 47472593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO5B chr18 4746875 4779293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 4747077 4747177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 47487595 47487695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5B chr18 47517810 47762354 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC11,MIR4320,MYO5B chr18 47518764 47518856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5B chr18 47616132 47616176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5B chr18 47622243 47622338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO5B chr18 47625370 47625975 Gain and loss Pancreatic cancer SNP array 17952125 MYO5B chr18 47625373 47625975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO5B chr18 47642210 50095523 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CCDC11,CXXC1,DCC,ELAC1,LOC100287225,MAPK4,MBD1,ME2,MEX3C,MIR4320,MRO,MYO5B,SKA1,SMAD4 chr18 47698745 47698900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO5B chr18 47698994 48240074 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CCDC11,CXXC1,MAPK4,MBD1,MYO5B,SKA1 chr18 47753562 47792864 Deletion Prostate cancer aCGH 22341455 CCDC11 chr18 47777417 47811668 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC11,CXXC1,MBD1 chr18 47795215 47808143 Deletion Prostate cancer aCGH 22341455 MBD1 chr18 47797075 47824771 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CXXC1,MBD1 chr18 47800499 47800599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBD1 chr18 47808712 47814691 Deletion Prostate cancer aCGH 22341455 CXXC1 chr18 47809329 47809429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CXXC1 chr18 47834453 47834553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84784450 84864145 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 SAMD13,UOX chr1 847892 1571976 LOH Normal High-resolution SNP genotyping 21211785 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,CCNL2,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SSU72,TAS1R3,TMEM240,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 chr18 47901391 47920537 Deletion Prostate cancer aCGH 22341455 SKA1 chr1 84792821 84812735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAMD13 chr1 84792821 84812735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMD13 chr18 47967025 48562430 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ELAC1,MAPK4,ME2,MRO,SMAD4 chr18 47967025 49159204 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48033387 48033487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 48035214 48035314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 4803797 4804478 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 48064944 48065024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84808318 84809411 Gain and loss Pancreatic cancer SNP array 17952125 SAMD13 chr18 48084855 48084917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 48086483 48258195 Deletion Prostate cancer aCGH 22341455 MAPK4 chr18 48120568 49311780 Copy number Breast cancer Univariate Analysis 17375183 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48120568 49311780 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48120568 49311780 Copy number Normal - 20680643 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48120568 49311780 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48121156 49311021 Gain and loss Pancreatic cancer SNP array 17952125 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48121156 49311021 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48121156 49311780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48121156 49311780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELAC1,LOC100287225,MAPK4,ME2,MEX3C,MRO,SMAD4 chr18 48160000 52960000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 C18orf26,C18orf54,CCDC68,DCC,ELAC1,LOC100287225,MAPK4,MBD2,ME2,MEX3C,MRO,POLI,RAB27B,SMAD4,SNORA37,STARD6,TCF4 chr18 48172808 48172908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAPK4 chr18 4818040 4818123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 48200000 53800000 Copy number Schizophrenia References 19571808 C18orf26,C18orf54,CCDC68,DCC,ELAC1,LOC100287225,LOC100505474,MAPK4,MBD2,ME2,MEX3C,MIR4529,MRO,POLI,RAB27B,SMAD4,SNORA37,STARD6,TCF4 chr18 48200000 53800000 Deletion Colorectal cancer GISTIC software 19359472 C18orf26,C18orf54,CCDC68,DCC,ELAC1,LOC100287225,LOC100505474,MAPK4,MBD2,ME2,MEX3C,MIR4529,MRO,POLI,RAB27B,SMAD4,SNORA37,STARD6,TCF4 chr18 48200000 53800000 Deletion Colorectal cancer PCR 16912164 C18orf26,C18orf54,CCDC68,DCC,ELAC1,LOC100287225,LOC100505474,MAPK4,MBD2,ME2,MEX3C,MIR4529,MRO,POLI,RAB27B,SMAD4,SNORA37,STARD6,TCF4 chr18 48200000 53800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 C18orf26,C18orf54,CCDC68,DCC,ELAC1,LOC100287225,LOC100505474,MAPK4,MBD2,ME2,MEX3C,MIR4529,MRO,POLI,RAB27B,SMAD4,SNORA37,STARD6,TCF4 chr18 48200000 61600000 Gain and amplification Multiple myeloma Array CGH 16616336 ALPK2,ATP8B1,BCL2,BOD1L2,C18orf26,C18orf54,CCBE1,CCDC68,CDH20,CPLX4,DCC,ELAC1,FECH,GRP,KDSR,KIAA1468,LINC-ROR,LMAN1,LOC100287225,LOC100505474,LOC100505549,MALT1,MAPK4,MBD2,MC4R,ME2,MEX3C,MIR122,MIR3591,MIR4529,MRO,NARS,NEDD4L,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,POLI,RAB27B,RAX,RNF152,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SMAD4,SNORA37,ST8SIA3,STARD6,TCF4,TNFRSF11A,TXNL1,VPS4B,WDR7,ZCCHC2,ZNF532 chr1 84821411 84849017 Gain and loss Pancreatic cancer SNP array 17952125 UOX chr18 48244346 48254500 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAPK4 chr18 48321489 48351753 Deletion Prostate cancer aCGH 22341455 MRO chr18 48344088 48344188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRO chr18 48405431 48476164 Deletion Prostate cancer aCGH 22341455 ME2 chr18 48460051 51959733 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 C18orf54,DCC,ELAC1,LOC100287225,MBD2,ME2,MEX3C,POLI,SMAD4,SNORA37,STARD6 chr18 48494386 48514489 Deletion Prostate cancer aCGH 22341455 ELAC1 chr18 48521284 48521369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 48556582 48611411 Deletion Prostate cancer aCGH 22341455 SMAD4 chr18 48633188 48633288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84866501 84873291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNASE2B chr1 84866501 84873291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNASE2B chr18 48678314 49159204 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100287225,MEX3C chr18 48686229 48687285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 48700919 48724050 Deletion Prostate cancer aCGH 22341455 MEX3C chr18 48716526 48717028 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MEX3C chr18 48716564 48717028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MEX3C chr18 48717662 48717771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEX3C chr18 48730184 48738502 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 48742064 48743491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 84874429 84875377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNASE2B chr18 48752898 48752998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 84881978 84928816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 84881978 84928816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 48844143 48844238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 48850737 48850837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 48986506 48986506 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100287225 chr18 48998862 48998962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100287225 chr1 84900000 107200000 Loss Esophageal adenocarcinoma MLPA 18820669 ABCA4,ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CTBS,CYR61,DBT,DDAH1,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,EPHX4,EVI5,EXTL2,F3,FAM69A,FLJ27354,FLJ31662,FNBP1L,FRRS1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNG5,GPR88,GTF2B,HFM1,HIAT1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPPR4,LPPR5,LRRC39,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR137,MIR137HG,MIR2682,MIR4423,MIR548AA1,MIR548D1,MIR553,MIR760,MTF2,ODF2L,OLFM3,PALMD,PKN2,PTBP2,RBMXL1,RNPC3,RNU6-6,RPAP2,RPF1,RPL5,RTCA,RWDD3,S1PR1,SASS6,SEP15,SH3GLB1,SLC30A7,SLC35A3,SLC44A3,SNORA66,SNORD21,SNX7,SSX2IP,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1,WDR63,ZNF326,ZNF644,ZNHIT6 chr1 84900000 107200000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABCA4,ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CTBS,CYR61,DBT,DDAH1,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,EPHX4,EVI5,EXTL2,F3,FAM69A,FLJ27354,FLJ31662,FNBP1L,FRRS1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNG5,GPR88,GTF2B,HFM1,HIAT1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPPR4,LPPR5,LRRC39,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR137,MIR137HG,MIR2682,MIR4423,MIR548AA1,MIR548D1,MIR553,MIR760,MTF2,ODF2L,OLFM3,PALMD,PKN2,PTBP2,RBMXL1,RNPC3,RNU6-6,RPAP2,RPF1,RPL5,RTCA,RWDD3,S1PR1,SASS6,SEP15,SH3GLB1,SLC30A7,SLC35A3,SLC44A3,SNORA66,SNORD21,SNX7,SSX2IP,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1,WDR63,ZNF326,ZNF644,ZNHIT6 chr1 84900000 107200000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABCA4,ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,BARHL2,BCAR3,BCL10,BRDT,BTBD8,C1orf146,C1orf180,C1orf52,CCBL2,CCDC18,CDC14A,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL11A1,COL24A1,CTBS,CYR61,DBT,DDAH1,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,EPHX4,EVI5,EXTL2,F3,FAM69A,FLJ27354,FLJ31662,FNBP1L,FRRS1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNG5,GPR88,GTF2B,HFM1,HIAT1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC100505768,LOC339524,LOC646626,LOC729970,LOC729987,LPAR3,LPPR4,LPPR5,LRRC39,LRRC8B,LRRC8C,LRRC8D,MCOLN2,MCOLN3,MIR137,MIR137HG,MIR2682,MIR4423,MIR548AA1,MIR548D1,MIR553,MIR760,MTF2,ODF2L,OLFM3,PALMD,PKN2,PTBP2,RBMXL1,RNPC3,RNU6-6,RPAP2,RPF1,RPL5,RTCA,RWDD3,S1PR1,SASS6,SEP15,SH3GLB1,SLC30A7,SLC35A3,SLC44A3,SNORA66,SNORD21,SNX7,SSX2IP,SYDE2,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1,WDR63,ZNF326,ZNF644,ZNHIT6 chr1 84900000 117800000 Deletion Hepatocellular carcinoma Array CGH 16750200 ABCA4,ABCD3,ACTG1P4,ADORA3,AGL,AHCYL1,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,AP4B1,AP4B1-AS1,ARHGAP29,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL10,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf180,C1orf194,C1orf52,C1orf88,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CSDE1,CSF1,CTBS,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM69A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FRRS1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GNAI3,GNAT2,GNG5,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HENMT1,HFM1,HIAT1,HIPK1,HS2ST1,HSP90B3P,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC646626,LOC729970,LOC729987,LPAR3,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC8B,LRRC8C,LRRC8D,MAB21L3,MAGI3,MCOLN2,MCOLN3,MIR137,MIR137HG,MIR197,MIR2682,MIR320B1,MIR4256,MIR4423,MIR548AA1,MIR548D1,MIR553,MIR760,MIR942,MOV10,MTF2,MYBPHL,NBPF4,NBPF6,NGF,NHLH2,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHTF1,PKN2,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGFRN,PTPN22,RAP1A,RBM15,RBMXL1,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPF1,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC6A17,SNORA66,SNORD21,SNX7,SORT1,SRG7,SSX2IP,ST7L,STXBP3,SYCP1,SYDE2,SYPL2,SYT6,TAF13,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WDR47,WDR63,WDR77,WNT2B,ZNF326,ZNF644,ZNHIT6 chr1 84900000 88400000 Amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 BCL10,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,GNG5,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,ODF2L,RPF1,SEP15,SH3GLB1,SSX2IP,SYDE2,WDR63,ZNHIT6 chr1 84900000 88400000 Loss Prostate cancer Array CGH 16573809 BCL10,C1orf180,C1orf52,CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,CTBS,CYR61,DDAH1,GNG5,HS2ST1,LMO4,LOC100505768,LOC339524,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,ODF2L,RPF1,SEP15,SH3GLB1,SSX2IP,SYDE2,WDR63,ZNHIT6 chr18 49063474 49063574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100287225 chr18 49147220 49883403 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCC chr18 49157463 49157563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 49163634 49164105 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 49178201 49182300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 49179976 49180298 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 49179991 49180313 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 49184749 49184809 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 49214220 51345876 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCC chr18 49233583 49240537 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 49251654 49273141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 49301605 55260237 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 BOD1L2,C18orf26,C18orf54,CCDC68,DCC,FECH,LINC-ROR,LOC100505474,MBD2,MIR4529,ONECUT2,POLI,RAB27B,SNORA37,ST8SIA3,STARD6,TCF4,TXNL1,WDR7 chr18 49377631 49388260 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 49390402 49391771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 49390456 49391785 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 49392977 49393009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8494441 8494565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr18 4945591 4945986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 49458001 49466400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 49459710 49464584 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 49459967 49464519 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 49461207 49464638 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 49517898 49517998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 4954508 4954548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 4954931 5182309 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C18orf42 chr18 49562582 49562682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 49573564 49573637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 84959714 84960056 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RPF1 chr18 49622225 49623225 Gain Osteosarcoma References 21215367 NOT_FOUND chr18 49632464 49632558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 49662501 49663500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 49671865 49683323 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 49677318 49691438 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 4968893 4970165 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 4968893 5004084 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 49690051 49690517 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 49690052 49690400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 4969612 4970165 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 4969713 6097709 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C18orf42,EPB41L3,L3MBTL4,LINC00526,LINC00667,LOC645355,MIR3976,TMEM200C,ZFP161 chr18 49731290 49731375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 49732439 49732539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 4978091 4978168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 49800000 52900000 Deletion abnormal development HR-CGH, Array-CGH 18461090 C18orf26,C18orf54,CCDC68,DCC,MBD2,POLI,RAB27B,SNORA37,STARD6,TCF4 chr18 49844734 50270501 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 DCC chr18 49866541 51062272 Deletion Prostate cancer aCGH 22341455 DCC chr18 49866541 51062273 Loss Esophageal adenocarcinoma MLPA 18820669 DCC chr18 49866541 51062273 Loss Gastric cancer Array CGH 16891809 DCC chr18 49866954 49867024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 49905365 49905515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 49907331 49907412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr1 84991522 85043863 Gain and loss Pancreatic cancer SNP array 17952125 CTBS chr18 4992793 4993309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 49934572 50005156 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DCC chr18 49934573 50005156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 49934573 50005156 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 49934573 50005156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 49992019 49992119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50002651 50002780 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DCC chr18 50002652 50002780 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 50002652 50002780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 5000 57110 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr18 50021001 50023000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DCC chr18 50036057 50036157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50049846 50078602 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DCC chr18 50049847 50078600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50049847 50078600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50049923 50075090 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 50064079 50064179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50065267 50256880 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCC chr18 50076628 50076728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50085867 50086050 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DCC chr18 50097630 50097715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50097750 50097985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50104962 50134941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50104962 50134941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50105060 50134941 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 50117436 50135057 Gain Autism 1M Ailent CGH whole-genome array 21865298 DCC chr18 50122776 50124967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DCC chr18 50139169 50162377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50139169 50162377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50139169 50162379 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 50149093 50149183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50152926 50153026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50172057 50217301 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCC chr18 50190557 50235307 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCC chr18 50197056 50242381 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCC chr18 50202845 50248272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCC chr18 50204901 50213000 Deletion Glioma mate-paired sequence 20126413 DCC chr18 50206962 50210957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DCC chr18 50210000 51050000 Loss Acute lymphoblastic leukemia - 21339820 DCC chr18 5023476 5023576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85023992 86006459 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCL10,C1orf180,C1orf52,CTBS,DDAH1,LOC646626,LPAR3,MCOLN2,MCOLN3,MIR4423,SSX2IP,SYDE2,WDR63 chr1 85031336 85031470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTBS chr18 50371940 50528205 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 DCC chr1 85037506 85037604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTBS chr1 850393 869824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130417,SAMD11 chr1 850393 869824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130417,SAMD11 chr18 50409388 50417722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50409388 50417722 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 50409388 50417722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50438121 50438221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50440663 50440747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50493643 50655496 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCC chr1 85052089 85104430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf180 chr1 85052089 85104430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf180 chr18 50575401 50593100 Deletion Glioma mate-paired sequence 20126413 DCC chr18 50603321 50603369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50631304 58414228 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALPK2,ATP8B1,BOD1L2,C18orf26,C18orf54,CCBE1,CCDC68,CPLX4,DCC,FECH,GRP,LINC-ROR,LMAN1,LOC100505474,LOC100505549,MALT1,MBD2,MC4R,MIR122,MIR3591,MIR4529,NARS,NEDD4L,OACYLP,ONECUT2,PMAIP1,POLI,RAB27B,RAX,SEC11C,SNORA37,ST8SIA3,STARD6,TCF4,TXNL1,WDR7,ZNF532 chr18 50633910 50634010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50646706 50708124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50646706 50708124 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 50646706 50708124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50646837 50708209 Copy number Normal - 20680643 DCC chr18 50667809 50714361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCC chr18 50719790 50777635 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 DCC chr18 50719792 50777635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50719792 50777635 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 50719792 50777635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 50767562 50771872 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DCC chr18 50833478 51443850 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1137K arrays 21546498 DCC chr18 50887542 50887642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50965716 52820402 Duplication Intellectual disability Array CGH 22102821 C18orf26,C18orf54,CCDC68,DCC,MBD2,POLI,RAB27B,SNORA37,STARD6 chr18 50982081 60189349 Loss Developmental delay affymetrix genechip 500K/SNP 6.77 array 21147756 ALPK2,ATP8B1,BOD1L2,C18orf26,C18orf54,CCBE1,CCDC68,CDH20,CPLX4,DCC,FECH,GRP,KIAA1468,LINC-ROR,LMAN1,LOC100505474,LOC100505549,MALT1,MBD2,MC4R,MIR122,MIR3591,MIR4529,NARS,NEDD4L,OACYLP,ONECUT2,PIGN,PMAIP1,POLI,RAB27B,RAX,RNF152,SEC11C,SNORA37,ST8SIA3,STARD6,TCF4,TNFRSF11A,TXNL1,WDR7,ZNF532 chr18 50986350 50986554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50986543 50986652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 50997934 51042551 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCC chr18 51016003 51016082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DCC chr18 51018278 51378509 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 DCC chr18 51040560 51454183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCC chr18 51040560 51454183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCC chr1 85104389 85143405 Gain and loss Pancreatic cancer SNP array 17952125 SSX2IP chr18 51046093 51406858 Gain and loss Pancreatic cancer SNP array 17952125 DCC chr18 51054814 51054910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 51055728 51055828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCC chr18 5106858 5140560 Copy number Autism exome sequencing 22495311 NOT_FOUND chr18 51077986 51290758 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1124K arrays 21546498 NOT_FOUND chr18 51108121 51312629 Deletion Pitt-Hopkins syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 NOT_FOUND chr18 51125609 51125641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 51177108 51410144 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 5122709 5123168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 5122747 5123168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 51293459 51293559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 51308961 51599581 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr18 5133548 5133596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85137798 85137898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSX2IP chr18 51409607 51895543 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 C18orf54,MBD2,POLI,SNORA37,STARD6 chr18 51488340 51488556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85149776 85149876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSX2IP chr18 51514710 51516502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 85154526 85166176 Amplification or deletion Cancer Array CGH 17440070 SSX2IP chr18 51599581 55203269 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 BOD1L2,C18orf26,C18orf54,CCDC68,LINC-ROR,LOC100505474,MBD2,MIR4529,ONECUT2,POLI,RAB27B,SNORA37,ST8SIA3,STARD6,TCF4,TXNL1,WDR7 chr18 51617580 51617730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 51626874 51626954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85163855 85235384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 85163855 85235384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 51654932 51655932 Gain Osteosarcoma References 21215367 NOT_FOUND chr18 51680574 51751157 Deletion Prostate cancer aCGH 22341455 MBD2,SNORA37 chr18 51746536 51746636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBD2 chr1 85176851 85310841 Gain and loss Pancreatic cancer SNP array 17952125 LPAR3 chr18 51795848 51824603 Deletion Prostate cancer aCGH 22341455 POLI chr18 51803567 52332836 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C18orf26,C18orf54,POLI,STARD6 chr18 51803567 53401262 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C18orf26,C18orf54,CCDC68,MIR4529,POLI,RAB27B,STARD6,TCF4 chr18 51821842 52009491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C18orf54,POLI,STARD6 chr18 51851061 51880942 Deletion Prostate cancer aCGH 22341455 STARD6 chr1 85189058 85189113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 51897623 51897823 Gain and loss Pancreatic cancer SNP array 17952125 C18orf54 chr18 51897623 51897823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C18orf54 chr18 51897628 51897824 Gain and loss Pancreatic cancer SNP array 17952125 C18orf54 chr18 51908023 51908819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C18orf54 chr18 51916637 51916700 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 5195228 5200753 Copy number Alcoholism Illumina Human Hap676W-Quad BeadChip 21790672 C18orf42 chr18 5195228 5200753 Copy number Normal - 21790672 C18orf42 chr1 85195787 85226190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 51960788 51960882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 51986282 51986382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 5199874 5202781 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 5199874 5202781 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr18 52000000 54400000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C18orf26,CCDC68,LOC100505474,MIR4529,RAB27B,TCF4,TXNL1,WDR7 chr18 52000000 54400000 Gain Multiple myeloma CGH, FISH 16461302 C18orf26,CCDC68,LOC100505474,MIR4529,RAB27B,TCF4,TXNL1,WDR7 chr18 52000000 59800000 Gain Multiple myeloma CGH, FISH 16461302 ALPK2,ATP8B1,BOD1L2,C18orf26,CCBE1,CCDC68,CDH20,CPLX4,FECH,GRP,LINC-ROR,LMAN1,LOC100505474,LOC100505549,MALT1,MC4R,MIR122,MIR3591,MIR4529,NARS,NEDD4L,OACYLP,ONECUT2,PIGN,PMAIP1,RAB27B,RAX,RNF152,SEC11C,ST8SIA3,TCF4,TXNL1,WDR7,ZNF532 chr18 52000000 59800000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ALPK2,ATP8B1,BOD1L2,C18orf26,CCBE1,CCDC68,CDH20,CPLX4,FECH,GRP,LINC-ROR,LMAN1,LOC100505474,LOC100505549,MALT1,MC4R,MIR122,MIR3591,MIR4529,NARS,NEDD4L,OACYLP,ONECUT2,PIGN,PMAIP1,RAB27B,RAX,RNF152,SEC11C,ST8SIA3,TCF4,TXNL1,WDR7,ZNF532 chr18 52000000 76117153 Loss Glioblastoma conventional CGH 21080181 ALPK2,ATP8B1,BCL2,BOD1L2,C18orf26,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CYB5A,DOK6,DSEL,FAM69C,FBXO15,FECH,GALR1,GRP,HMSD,KDSR,KIAA1468,LINC-ROR,LINC00305,LMAN1,LOC100131655,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MBP,MC4R,MIR122,MIR3591,MIR4529,MIR5011,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,RAB27B,RAX,RNF152,RTTN,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,ST8SIA3,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 52000000 76117153 Loss Normal Human genome CGH 56k ARRAY PLATFORM 22144094 ALPK2,ATP8B1,BCL2,BOD1L2,C18orf26,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CCDC68,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CYB5A,DOK6,DSEL,FAM69C,FBXO15,FECH,GALR1,GRP,HMSD,KDSR,KIAA1468,LINC-ROR,LINC00305,LMAN1,LOC100131655,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MBP,MC4R,MIR122,MIR3591,MIR4529,MIR5011,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,RAB27B,RAX,RNF152,RTTN,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,ST8SIA3,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 52080025 52081996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 52138442 52171515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 52252735 52252835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 5227363 5227650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 52299510 52299610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 5232888 5644534 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EPB41L3,LINC00526,LINC00667,ZFP161 chr1 85237418 85371409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPAR3 chr1 85237418 85371409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPAR3 chr18 5238524 5238567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00667 chr18 52395948 52396621 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 52421050 52469500 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 52421053 52456874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 52421053 52456874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 52421053 52469503 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 52441975 52442075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 52447013 52447113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 52469613 52848034 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CCDC68,RAB27B chr18 52469613 52848034 Copy number Normal - 20680643 CCDC68,RAB27B chr18 52469614 52848040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC68,RAB27B chr18 52469614 52848040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC68,RAB27B chr18 52490745 52848019 Gain and loss Pancreatic cancer SNP array 17952125 CCDC68,RAB27B chr18 52495839 52557206 Deletion Prostate cancer aCGH 22341455 RAB27B chr18 5251246 5311715 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ZFP161 chr1 85256353 85286757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPAR3 chr1 85256353 85286757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPAR3 chr18 52568739 52626738 Deletion Prostate cancer aCGH 22341455 CCDC68 chr18 52571455 52571555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC68 chr18 52571457 52571555 Gain and loss Pancreatic cancer SNP array 17952125 CCDC68 chr18 52573240 52601433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC68 chr18 5260008 75940259 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABHD3,ACAA2,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CHMP1B,CHST9,CHST9-AS1,CIDEA,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC728606,LOC729950,LOXHD1,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYO5B,NAPG,NARS,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,VAPA,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 52637652 53879232 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100505474,MIR4529,TCF4 chr18 52775499 52775697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 52775500 52775697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 5279018 5286039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 5279018 5286039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 5279060 5279160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 5279379 5286039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 85279907 85279987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPAR3 chr18 52808767 52808867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 5282101 5325575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZFP161 chr18 52842908 52843185 Deletion small cell lung cancer array-CGH 20016488 NOT_FOUND chr18 52889561 53255859 Deletion Prostate cancer aCGH 22341455 MIR4529,TCF4 chr18 52892720 52892928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TCF4 chr18 5290889 5291988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFP161 chr18 5293097 5294034 Loss Normal 244K array 17666407 ZFP161 chr18 52939144 52939224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr18 52965291 52966835 Gain and loss Pancreatic cancer SNP array 17952125 TCF4 chr18 52965371 52966829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF4 chr18 5296830 5297315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFP161 chr18 53014106 53014206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr18 53025310 53025361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr1 85303936 85499806 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LPAR3,MCOLN2,MCOLN3 chr18 5305223 5308882 Gain Normal 244K array 17666407 NOT_FOUND chr18 53069876 53103461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCF4 chr18 53089362 53089425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr1 85308974 85548315 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-298K arrays 21546498 LPAR3,MCOLN2,MCOLN3,WDR63 chr18 53095601 53101500 Deletion Glioma mate-paired sequence 20126413 TCF4 chr18 53097461 53099799 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 TCF4 chr18 53097461 53099799 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TCF4 chr18 53097735 53099702 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TCF4 chr18 53097736 53099715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TCF4 chr18 53098001 53099500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TCF4 chr18 53102831 53102936 Gain and loss Pancreatic cancer SNP array 17952125 TCF4 chr18 53102831 53102937 Gain and loss Pancreatic cancer SNP array 17952125 TCF4 chr18 53102831 53102937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF4 chr18 5312801 5318100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 53130643 53130743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr18 53145912 53146077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr18 53146077 53146206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr18 5314644 5316236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 53169042 53178833 Gain and loss Pancreatic cancer SNP array 17952125 TCF4 chr18 53170719 53187160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF4 chr18 53170719 53187160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF4 chr18 531983 619445 Duplication Schizophrenia NimbleGen HD2 platform 21346763 CETN1,CLUL1 chr18 53228724 53228824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr18 53252501 53260000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TCF4 chr18 53253914 53309528 Copy number Normal - 20680643 TCF4 chr18 53253915 53295062 Gain and loss Pancreatic cancer SNP array 17952125 TCF4 chr18 53253915 53309527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF4 chr18 53253915 53309527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF4 chr18 53274140 53274230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF4 chr18 53275060 53275232 Gain and loss Pancreatic cancer SNP array 17952125 TCF4 chr18 53275060 53275232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF4 chr18 5328955 5332577 Loss Normal 244K array 17666407 NOT_FOUND chr18 53295269 76117153 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1123K arrays 21546498 ALPK2,ATP8B1,BCL2,BOD1L2,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CYB5A,DOK6,DSEL,FAM69C,FBXO15,FECH,GALR1,GRP,HMSD,KDSR,KIAA1468,LINC-ROR,LINC00305,LMAN1,LOC100131655,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MBP,MC4R,MIR122,MIR3591,MIR5011,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,RAX,RNF152,RTTN,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,ST8SIA3,TCF4,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,VPS4B,WDR7,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 53363070 53404967 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 53363070 53404967 Copy number Normal - 20680643 NOT_FOUND chr18 53366535 53404988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53366535 53404988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 85336667 85355898 Gain and loss Pancreatic cancer SNP array 17952125 LPAR3 chr18 53367740 53404934 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53400108 53400208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 53418886 53440016 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53418891 53440175 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 53418891 53440175 Copy number Normal - 20680643 NOT_FOUND chr18 53418894 53440175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53418894 53440175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 5342036 5342095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 53450829 53532571 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 53456312 53476247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 53460144 53549969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53464656 53550037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53464656 53550037 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 53464656 53550037 Copy number Normal - 20680643 NOT_FOUND chr18 53464656 53550037 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 53464656 53550037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53464656 53550037 Gain or loss Cancer - 20668451 NOT_FOUND chr18 53464656 53550037 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 53464656 53550037 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 53464656 53550037 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 53464656 53550037 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 53466718 53550037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53485301 53485401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 53496852 53496923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53496852 53496923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53497175 53497246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53497175 53497246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53505406 53526680 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 53507932 53571255 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 53564954 53596883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 53573624 53573726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53573624 53573728 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53573624 53573730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53587865 53879232 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100505474 chr1 85358874 85378217 Gain and loss Pancreatic cancer SNP array 17952125 LPAR3 chr18 53612861 53710464 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 NOT_FOUND chr18 53639528 53639592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 53650000 56320000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ALPK2,ATP8B1,BOD1L2,FECH,LINC-ROR,LOC100505474,LOC100505549,MIR122,MIR3591,NARS,NEDD4L,ONECUT2,ST8SIA3,TXNL1,WDR7 chr18 53656706 53657185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53656706 53657194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53656706 53657194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53728380 53728458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 53800000 56200000 Deletion Colorectal cancer PCR 16912164 ALPK2,ATP8B1,BOD1L2,FECH,LINC-ROR,LOC100505474,LOC100505549,MIR122,MIR3591,NARS,NEDD4L,ONECUT2,ST8SIA3,TXNL1,WDR7 chr18 53800000 56200000 Gain Basal cell lymphoma Array CGH 19029149 ALPK2,ATP8B1,BOD1L2,FECH,LINC-ROR,LOC100505474,LOC100505549,MIR122,MIR3591,NARS,NEDD4L,ONECUT2,ST8SIA3,TXNL1,WDR7 chr18 53800000 56200000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 ALPK2,ATP8B1,BOD1L2,FECH,LINC-ROR,LOC100505474,LOC100505549,MIR122,MIR3591,NARS,NEDD4L,ONECUT2,ST8SIA3,TXNL1,WDR7 chr18 53800000 78077248 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ADNP2,ALPK2,ATP8B1,ATP9B,BCL2,BOD1L2,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTDP1,CYB5A,DOK6,DSEL,FAM69C,FBXO15,FECH,GALR1,GRP,HMSD,HSBP1L1,KCNG2,KDSR,KIAA1468,LINC-ROR,LINC00305,LMAN1,LOC100131655,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MBP,MC4R,MIR122,MIR3591,MIR5011,NARS,NEDD4L,NETO1,NFATC1,OACYLP,ONECUT2,PARD6G,PARD6G-AS1,PHLPP1,PIGN,PMAIP1,PQLC1,RAX,RBFA,RNF152,RTTN,SALL3,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,ST8SIA3,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL1,TXNL4A,VPS4B,WDR7,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 53822121 53822426 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 5382388 5534280 Gain and loss Pancreatic cancer SNP array 17952125 EPB41L3 chr18 5382388 5620640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41L3 chr18 5382388 5620640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41L3 chr18 53835901 53837291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53837019 53837291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53859886 58359886 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ALPK2,ATP8B1,BOD1L2,CCBE1,CPLX4,FECH,GRP,LINC-ROR,LMAN1,LOC100505549,MALT1,MC4R,MIR122,MIR3591,NARS,NEDD4L,OACYLP,ONECUT2,PMAIP1,RAX,SEC11C,ST8SIA3,TXNL1,WDR7,ZNF532 chr18 53860000 63460000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ALPK2,ATP8B1,BCL2,BOD1L2,CCBE1,CDH20,CDH7,CPLX4,FECH,GRP,HMSD,KDSR,KIAA1468,LINC-ROR,LINC00305,LMAN1,LOC100505549,LOC284294,LOC400654,MALT1,MC4R,MIR122,MIR3591,NARS,NEDD4L,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,RAX,RNF152,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,ST8SIA3,TNFRSF11A,TXNL1,VPS4B,WDR7,ZCCHC2,ZNF532 chr18 53862603 54216369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 53862777 54216369 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 53862777 54216369 Copy number Lung cancer - 20668451 NOT_FOUND chr18 53862777 54216369 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr18 53862777 54216369 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 53862777 54216369 Gain or loss Cancer - 20668451 NOT_FOUND chr18 53862777 54216369 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 53862777 54216369 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 53862777 54216369 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 53862777 54216369 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 53862778 54216369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 53862778 54216369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 5388938 5389038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 53927764 53959785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 53935979 53937661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 53945573 53945673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 53948001 53950000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 53950501 53954500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 5395121 5395221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPB41L3 chr18 53952576 53952901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 53952815 53952915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 53958688 53958856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 85395944 85439995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCOLN2 chr1 85395944 85439995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCOLN2 chr1 85398709 85398809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCOLN2 chr18 53998376 54929936 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 BOD1L2,LINC-ROR,TXNL1,WDR7 chr18 54009148 54043062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 54018083 54018183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 54019824 54039207 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 5411688 5411853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPB41L3 chr18 54126956 54127046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 54232753 54232853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 54269286 54269370 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr18 54269286 54269370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 54269286 54269370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 54270052 54305919 Deletion Prostate cancer aCGH 22341455 TXNL1 chr1 85427660 85437376 Gain and loss Pancreatic cancer SNP array 17952125 MCOLN2 chr18 5429450 5429550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPB41L3 chr18 54299459 54447169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TXNL1,WDR7 chr18 54299459 54447169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TXNL1,WDR7 chr18 54299461 54447169 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TXNL1,WDR7 chr18 54299468 54447169 Gain and loss Pancreatic cancer SNP array 17952125 TXNL1,WDR7 chr18 54318615 54697035 Deletion Prostate cancer aCGH 22341455 WDR7 chr18 54330588 54398580 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 WDR7 chr18 54346640 54346740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR7 chr18 54400000 57100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALPK2,ATP8B1,BOD1L2,CCBE1,CPLX4,FECH,GRP,LINC-ROR,LMAN1,LOC100505549,MALT1,MIR122,MIR3591,NARS,NEDD4L,OACYLP,ONECUT2,RAX,SEC11C,ST8SIA3,WDR7,ZNF532 chr18 54400000 57100000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ALPK2,ATP8B1,BOD1L2,CCBE1,CPLX4,FECH,GRP,LINC-ROR,LMAN1,LOC100505549,MALT1,MIR122,MIR3591,NARS,NEDD4L,OACYLP,ONECUT2,RAX,SEC11C,ST8SIA3,WDR7,ZNF532 chr18 54400000 57100000 Loss Barrett's adenocarcinoma FISH 18663352 ALPK2,ATP8B1,BOD1L2,CCBE1,CPLX4,FECH,GRP,LINC-ROR,LMAN1,LOC100505549,MALT1,MIR122,MIR3591,NARS,NEDD4L,OACYLP,ONECUT2,RAX,SEC11C,ST8SIA3,WDR7,ZNF532 chr18 54400000 66900000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ALPK2,ATP8B1,BCL2,BOD1L2,CCBE1,CCDC102B,CDH19,CDH20,CDH7,CPLX4,DSEL,FECH,GRP,HMSD,KDSR,KIAA1468,LINC-ROR,LINC00305,LMAN1,LOC100505549,LOC284294,LOC400654,LOC643542,MALT1,MC4R,MIR122,MIR3591,MIR5011,NARS,NEDD4L,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,RAX,RNF152,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,ST8SIA3,TMX3,TNFRSF11A,VPS4B,WDR7,ZCCHC2,ZNF532 chr18 54400000 76117153 Loss Glioblastoma multiforme aCGH 21080181 ALPK2,ATP8B1,BCL2,BOD1L2,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CYB5A,DOK6,DSEL,FAM69C,FBXO15,FECH,GALR1,GRP,HMSD,KDSR,KIAA1468,LINC-ROR,LINC00305,LMAN1,LOC100131655,LOC100505549,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MBP,MC4R,MIR122,MIR3591,MIR5011,NARS,NEDD4L,NETO1,OACYLP,ONECUT2,PHLPP1,PIGN,PMAIP1,RAX,RNF152,RTTN,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,ST8SIA3,TIMM21,TMX3,TNFRSF11A,TSHZ1,VPS4B,WDR7,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr1 85442000 85442104 Gain and loss Pancreatic cancer SNP array 17952125 MCOLN2 chr1 85442001 85442105 Gain and loss Pancreatic cancer SNP array 17952125 MCOLN2 chr1 85443952 85455604 Gain and loss Pancreatic cancer SNP array 17952125 MCOLN2 chr18 54449470 54449983 Gain and loss Pancreatic cancer SNP array 17952125 WDR7 chr18 54449470 54450337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR7 chr18 54466202 54466287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR7 chr18 5447106 5447205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPB41L3 chr18 5447317 5447417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPB41L3 chr18 54477216 54477568 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 WDR7 chr18 54489597 54568350 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 WDR7 chr18 54489597 54568350 Copy number Lung cancer - 20668451 WDR7 chr18 54489597 54568350 Gain or loss Breast cancer - 20668451 WDR7 chr18 54489597 54568350 Gain or loss Cancer - 20668451 WDR7 chr18 54489597 54568350 Gain or loss Lung cancer - 20668451 WDR7 chr18 54489597 54568350 Gain or loss Ovarian cancer - 20668451 WDR7 chr18 54489597 54568350 Gain or loss Pancreas cancer - 20668451 WDR7 chr18 54489597 54568350 Gain or loss Prostate cancer - 20668451 WDR7 chr18 54489598 54568350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR7 chr18 54489598 54568350 Gain and loss Pancreatic cancer SNP array 17952125 WDR7 chr18 54489598 54568350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR7 chr18 54508559 54510371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR7 chr18 54508580 54510365 Gain and loss Pancreatic cancer SNP array 17952125 WDR7 chr18 54516004 54516432 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 WDR7 chr18 54528453 54528553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR7 chr18 54530144 54533333 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 WDR7 chr18 54541462 54565655 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 WDR7 chr18 54560575 54566340 Amplification or deletion Cancer Array CGH 17440070 WDR7 chr18 54563593 54585959 Gain or loss Breast cancer - 20668451 WDR7 chr18 54563593 54585959 Gain or loss Cancer - 20668451 WDR7 chr18 54563593 54585959 Gain or loss Lung cancer - 20668451 WDR7 chr18 54563593 54585959 Gain or loss Ovarian cancer - 20668451 WDR7 chr18 54563593 54585959 Gain or loss Pancreas cancer - 20668451 WDR7 chr18 54563593 54585959 Gain or loss Prostate cancer - 20668451 WDR7 chr18 54599304 54599389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR7 chr18 54600001 58000000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ALPK2,ATP8B1,BOD1L2,CCBE1,CPLX4,FECH,GRP,LINC-ROR,LMAN1,LOC100505549,MALT1,MIR122,MIR3591,NARS,NEDD4L,OACYLP,ONECUT2,PMAIP1,RAX,SEC11C,ST8SIA3,WDR7,ZNF532 chr18 54621233 54621541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR7 chr18 54621233 54621543 Gain and loss Pancreatic cancer SNP array 17952125 WDR7 chr18 54623480 54623585 Gain and loss Pancreatic cancer SNP array 17952125 WDR7 chr18 54623480 54623586 Gain and loss Pancreatic cancer SNP array 17952125 WDR7 chr18 54623480 54623586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR7 chr18 54629790 54637236 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR7 chr18 54637094 54637228 Gain and loss Pancreatic cancer SNP array 17952125 WDR7 chr18 54637094 54637229 Gain and loss Pancreatic cancer SNP array 17952125 WDR7 chr18 54637095 54637228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR7 chr18 54651164 54651264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR7 chr18 54651283 54651475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR7 chr18 54679045 55049294 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 BOD1L2,LINC-ROR,ST8SIA3,WDR7 chr18 54680812 54804177 Gain and loss Pancreatic cancer SNP array 17952125 LINC-ROR,WDR7 chr18 54681040 54804689 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LINC-ROR,WDR7 chr18 54681040 54804689 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LINC-ROR,WDR7 chr18 54681040 54804689 Copy number Normal - 20680643 LINC-ROR,WDR7 chr18 54681041 54804663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC-ROR,WDR7 chr18 54681041 54804663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC-ROR,WDR7 chr18 54681114 54681315 Loss Autism 1M Ailent CGH whole-genome array 21865298 WDR7 chr18 54706184 54706351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 54706186 54706222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 54713349 54747591 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC-ROR chr18 54744337 54744508 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 54744443 54744508 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 54779209 55745844 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP8B1,BOD1L2,FECH,LOC100505549,NARS,NEDD4L,ONECUT2,ST8SIA3 chr18 54779209 57268186 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALPK2,ATP8B1,BOD1L2,CCBE1,CPLX4,FECH,GRP,LMAN1,LOC100505549,MALT1,MIR122,MIR3591,NARS,NEDD4L,OACYLP,ONECUT2,RAX,SEC11C,ST8SIA3,ZNF532 chr18 5478215 5478315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPB41L3 chr18 54792971 54806556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 54802485 55527614 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATP8B1,BOD1L2,FECH,LOC100505549,NARS,ONECUT2,ST8SIA3 chr18 5482282 5482519 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPB41L3 chr1 85488227 85497943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCOLN3 chr1 85488227 85497943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCOLN3 chr18 54958104 54977043 Copy number Normal - 20680643 NOT_FOUND chr18 54958105 54977041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 54958105 54977041 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 54958105 54977041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 85496190 85642848 Gain and loss Pancreatic cancer SNP array 17952125 MCOLN3,MIR4423,SYDE2,WDR63 chr18 55019720 55036161 Deletion Prostate cancer aCGH 22341455 ST8SIA3 chr1 85502567 85502673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCOLN3 chr18 55038380 55048980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 55038380 55048980 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 55038380 55048980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 85504047 85516171 Copy number Lung cancer - 20668451 MCOLN3 chr1 85504047 85516171 Gain or loss Breast cancer - 20668451 MCOLN3 chr1 85504047 85516171 Gain or loss Cancer - 20668451 MCOLN3 chr1 85504047 85516171 Gain or loss Lung cancer - 20668451 MCOLN3 chr1 85504047 85516171 Gain or loss Ovarian cancer - 20668451 MCOLN3 chr1 85504047 85516171 Gain or loss Pancreas cancer - 20668451 MCOLN3 chr1 85504047 85516171 Gain or loss Prostate cancer - 20668451 MCOLN3 chr1 85504052 85516359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCOLN3 chr1 85504052 85516359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCOLN3 chr18 55080000 55510000 Loss Acute lymphoblastic leukemia - 21339820 ATP8B1,FECH,LOC100505549,NARS,ONECUT2 chr18 55082501 55093000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 55085247 55091605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 55085247 55091605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 55085249 55091605 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 55102916 55158529 Deletion Prostate cancer aCGH 22341455 ONECUT2 chr18 55113633 55136861 Amplification Intellectual disability 100k SNP Array 21811512 ONECUT2 chr18 55113633 55136861 Copy number Normal - 20680643 ONECUT2 chr18 55113634 55136861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ONECUT2 chr18 55113634 55136861 Gain and loss Pancreatic cancer SNP array 17952125 ONECUT2 chr18 55113634 55136861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ONECUT2 chr18 55148087 55177461 Copy number Normal - 20680643 ONECUT2 chr18 55148088 55177463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ONECUT2 chr18 55148088 55177463 Gain and loss Pancreatic cancer SNP array 17952125 ONECUT2 chr18 55148088 55177463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ONECUT2 chr18 55173571 55173663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 55175085 55175185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 55193114 55193165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 55203269 62178149 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALPK2,ATP8B1,BCL2,CCBE1,CDH20,CPLX4,FECH,GRP,HMSD,KDSR,KIAA1468,LINC00305,LMAN1,LOC100505549,LOC284294,LOC400654,MALT1,MC4R,MIR122,MIR3591,NARS,NEDD4L,OACYLP,PHLPP1,PIGN,PMAIP1,RAX,RNF152,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,TNFRSF11A,VPS4B,ZCCHC2,ZNF532 chr18 55212072 55253968 Deletion Prostate cancer aCGH 22341455 FECH chr1 85521209 85521538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 55252126 55515570 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP8B1,FECH,LOC100505549,NARS chr18 55252126 55515570 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ATP8B1,FECH,LOC100505549,NARS chr18 55252129 55515554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8B1,FECH,LOC100505549,NARS chr18 55252129 55515554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B1,FECH,LOC100505549,NARS chr18 55252129 55515590 Gain and loss Pancreatic cancer SNP array 17952125 ATP8B1,FECH,LOC100505549,NARS chr18 55267890 55289176 Deletion Prostate cancer aCGH 22341455 NARS chr18 55270507 55270607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NARS chr18 55313657 55470326 Deletion Prostate cancer aCGH 22341455 ATP8B1,LOC100505549 chr18 55351574 55597554 Copy number Lung cancer paired-end sequencing 18438408 ATP8B1 chr18 55355976 76117153 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 ALPK2,ATP8B1,BCL2,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CYB5A,DOK6,DSEL,FAM69C,FBXO15,GALR1,GRP,HMSD,KDSR,KIAA1468,LINC00305,LMAN1,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MBP,MC4R,MIR122,MIR3591,MIR5011,NEDD4L,NETO1,OACYLP,PHLPP1,PIGN,PMAIP1,RAX,RNF152,RTTN,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TIMM21,TMX3,TNFRSF11A,TSHZ1,VPS4B,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 55409159 55409496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP8B1 chr18 55460039 55507356 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ATP8B1 chr18 5550258 6097709 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 L3MBTL4,LOC645355,MIR3976,TMEM200C chr1 85556757 85703411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4423,SYDE2,WDR63 chr1 85556757 85703411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4423,SYDE2,WDR63 chr18 55567889 55567969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 55579770 55580117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 55597227 55597283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 55605182 55607047 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 55614756 66009214 Copy number Lung cancer paired-end sequencing 18438408 ALPK2,BCL2,CCBE1,CDH19,CDH20,CDH7,CPLX4,DSEL,GRP,HMSD,KDSR,KIAA1468,LINC00305,LMAN1,LOC284294,LOC400654,LOC643542,MALT1,MC4R,MIR122,MIR3591,MIR5011,NEDD4L,OACYLP,PHLPP1,PIGN,PMAIP1,RAX,RNF152,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,TNFRSF11A,VPS4B,ZCCHC2,ZNF532 chr18 55633720 55633818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 55634297 55801525 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NEDD4L chr18 55641331 55641670 Loss Normal 244K array 17666407 NOT_FOUND chr18 55642485 55643263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 55661941 55696000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 55664908 55665008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 55697744 55698755 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 55711618 56068771 Deletion Prostate cancer aCGH 22341455 NEDD4L chr18 55718171 55722518 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NEDD4L chr18 55718171 55722518 Copy number Normal - 20680643 NEDD4L chr18 55718171 55722518 Gain or loss Breast cancer - 20668451 NEDD4L chr18 55718171 55722518 Gain or loss Cancer - 20668451 NEDD4L chr18 55718171 55722518 Gain or loss Lung cancer - 20668451 NEDD4L chr18 55718171 55722518 Gain or loss Ovarian cancer - 20668451 NEDD4L chr18 55718171 55722518 Gain or loss Pancreas cancer - 20668451 NEDD4L chr18 55718171 55722518 Gain or loss Prostate cancer - 20668451 NEDD4L chr18 55718172 55722518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55718172 55722518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55718217 55722517 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 55746876 55746971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEDD4L chr18 55761108 56336782 LOH Normal High-resolution SNP genotyping 21211785 ALPK2,MIR122,MIR3591,NEDD4L chr18 55787648 55789586 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 55788417 55789586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55791126 55791415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55791126 55791419 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 55791126 55791419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55809970 56318664 LOH Normal High-resolution SNP genotyping 21211785 ALPK2,MIR122,MIR3591,NEDD4L chr18 55816000 56063854 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NEDD4L chr18 55828201 55829355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55828201 55829355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55828213 55829355 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 55829697 55829797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEDD4L chr18 55834987 55835654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55834987 55835696 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 55836837 55836933 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 55836837 55836933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr1 85588551 85588651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR63 chr18 55897686 56697427 LOH Normal High-resolution SNP genotyping 21211785 ALPK2,MALT1,MIR122,MIR3591,NEDD4L,ZNF532 chr1 85590174 85623241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4423,WDR63 chr1 85591611 85591711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR63 chr18 55921026 55921126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEDD4L chr1 85592521 85592621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR63 chr18 55950201 55981400 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEDD4L chr18 55975710 56128721 Deletion Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 MIR122,MIR3591,NEDD4L chr18 55981780 55981920 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 55981780 55981920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEDD4L chr18 55981780 55981923 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 56014767 56016365 Gain and loss Pancreatic cancer SNP array 17952125 NEDD4L chr18 5602267 5602367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 56041425 56041525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEDD4L chr18 56050001 56400000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ALPK2,MALT1,MIR122,MIR3591,NEDD4L chr18 56067878 56076105 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEDD4L chr18 56068705 56075399 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NEDD4L chr18 56068921 56073194 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 56068921 56073194 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 56069287 56069387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 56073079 56093820 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 56073983 56104254 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 85610381 85811599 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCL10,C1orf52,DDAH1,LOC646626,SYDE2 chr18 56122993 56572162 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ALPK2,MALT1,ZNF532 chr1 85612880 85612988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 85612881 85612988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 56134841 56148670 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALPK2 chr1 85614073 85718708 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 C1orf52,SYDE2 chr18 56143729 56143829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 56148478 56296188 Deletion Prostate cancer aCGH 22341455 ALPK2 chr18 56173956 57070081 LOH Normal High-resolution SNP genotyping 21211785 ALPK2,CPLX4,GRP,LMAN1,MALT1,OACYLP,RAX,SEC11C,ZNF532 chr18 56189323 56190988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALPK2 chr18 56189323 56190988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALPK2 chr18 56189543 56190981 Gain or loss Breast cancer - 20668451 ALPK2 chr18 56189543 56190981 Gain or loss Cancer - 20668451 ALPK2 chr18 56189543 56190981 Gain or loss Lung cancer - 20668451 ALPK2 chr18 56189543 56190981 Gain or loss Ovarian cancer - 20668451 ALPK2 chr18 56189543 56190981 Gain or loss Pancreas cancer - 20668451 ALPK2 chr18 56189543 56190981 Gain or loss Prostate cancer - 20668451 ALPK2 chr18 56189564 56190562 Gain and loss Pancreatic cancer SNP array 17952125 ALPK2 chr18 56200000 59000000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ALPK2,CCBE1,CPLX4,GRP,LMAN1,MALT1,MC4R,OACYLP,PMAIP1,RAX,SEC11C,ZNF532 chr18 56200000 59000000 Deletion Acute myeloid leukemia Array-based CGH 17268525 ALPK2,CCBE1,CPLX4,GRP,LMAN1,MALT1,MC4R,OACYLP,PMAIP1,RAX,SEC11C,ZNF532 chr18 56200000 59000000 Deletion Colorectal cancer PCR 16912164 ALPK2,CCBE1,CPLX4,GRP,LMAN1,MALT1,MC4R,OACYLP,PMAIP1,RAX,SEC11C,ZNF532 chr18 56200000 68700000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ALPK2,BCL2,CCBE1,CCDC102B,CD226,CDH19,CDH20,CDH7,CPLX4,DOK6,DSEL,GRP,HMSD,KDSR,KIAA1468,LINC00305,LMAN1,LOC284294,LOC400654,LOC643542,MALT1,MC4R,MIR5011,OACYLP,PHLPP1,PIGN,PMAIP1,RAX,RNF152,RTTN,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TMX3,TNFRSF11A,VPS4B,ZCCHC2,ZNF532 chr18 56200000 78077248 Loss Anaplastic large cell lymphoma Array CGH 18179710 ADNP2,ALPK2,ATP9B,BCL2,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTDP1,CYB5A,DOK6,DSEL,FAM69C,FBXO15,GALR1,GRP,HMSD,HSBP1L1,KCNG2,KDSR,KIAA1468,LINC00305,LMAN1,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MBP,MC4R,MIR5011,NETO1,NFATC1,OACYLP,PARD6G,PARD6G-AS1,PHLPP1,PIGN,PMAIP1,PQLC1,RAX,RBFA,RNF152,RTTN,SALL3,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL4A,VPS4B,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 56200000 78077248 Loss Hodgkin's lymphoma Array CGH 18179710 ADNP2,ALPK2,ATP9B,BCL2,C18orf62,C18orf63,CBLN2,CCBE1,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CPLX4,CTDP1,CYB5A,DOK6,DSEL,FAM69C,FBXO15,GALR1,GRP,HMSD,HSBP1L1,KCNG2,KDSR,KIAA1468,LINC00305,LMAN1,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MALT1,MBP,MC4R,MIR5011,NETO1,NFATC1,OACYLP,PARD6G,PARD6G-AS1,PHLPP1,PIGN,PMAIP1,PQLC1,RAX,RBFA,RNF152,RTTN,SALL3,SEC11C,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TIMM21,TMX3,TNFRSF11A,TSHZ1,TXNL4A,VPS4B,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516,ZNF532 chr18 56209691 58771744 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALPK2,CCBE1,CPLX4,GRP,LMAN1,MALT1,MC4R,OACYLP,PMAIP1,RAX,SEC11C,ZNF532 chr18 56219599 56219699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALPK2 chr18 56244816 56892815 LOH Normal High-resolution SNP genotyping 21211785 ALPK2,GRP,MALT1,OACYLP,SEC11C,ZNF532 chr18 56249692 56275142 Copy number loss Normal High-resolution SNP genotyping 21211785 ALPK2 chr18 56250406 56272212 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ALPK2 chr18 56255932 59129566 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ALPK2,CCBE1,CPLX4,GRP,LMAN1,MALT1,MC4R,OACYLP,PMAIP1,RAX,SEC11C,ZNF532 chr18 5629458 5629513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 56299500 56468909 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 MALT1 chr18 56305594 56305694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 56338617 56417369 Deletion Prostate cancer aCGH 22341455 MALT1 chr18 5634538 5634587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 56359551 56359646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MALT1 chr18 56410839 56410922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MALT1 chr18 56429983 56464308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 56481272 56482583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 56481272 56482583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 56543756 56588977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF532 chr18 56594620 56599572 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF532 chr18 56595557 56595651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF532 chr18 56612827 56613129 Gain and loss Pancreatic cancer SNP array 17952125 ZNF532 chr18 56721159 56721259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85673446 85673555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 56753507 56753607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 56768639 56768724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85679074 85679147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 56807124 56826063 Deletion Prostate cancer aCGH 22341455 SEC11C chr1 85683878 85687990 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 56872541 57340436 Loss Prostate cancer Array CGH 18632612 CCBE1,CPLX4,GRP,LMAN1,RAX chr18 56887399 56898002 Deletion Prostate cancer aCGH 22341455 GRP chr18 56934266 56940624 Deletion Prostate cancer aCGH 22341455 RAX chr18 56962633 56985880 Deletion Prostate cancer aCGH 22341455 CPLX4 chr18 56995054 57026507 Deletion Prostate cancer aCGH 22341455 LMAN1 chr18 5699864 5699964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 57006959 57007057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LMAN1 chr18 57030374 57030474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 570357 571624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 570367 571524 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 570367 571524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 570367 571524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 57098170 57364643 Deletion Prostate cancer aCGH 22341455 CCBE1 chr18 57100000 59800000 Copy number Normal - 20680643 CCBE1,CDH20,MC4R,PIGN,PMAIP1,RNF152 chr18 57100000 59800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CCBE1,CDH20,MC4R,PIGN,PMAIP1,RNF152 chr18 57100000 59800000 Loss Breast cancer - 16397240 CCBE1,CDH20,MC4R,PIGN,PMAIP1,RNF152 chr18 57100000 64900000 Loss Prostate cancer Array CGH 16573809 BCL2,CCBE1,CDH19,CDH20,CDH7,HMSD,KDSR,KIAA1468,LINC00305,LOC284294,LOC400654,MC4R,MIR5011,PHLPP1,PIGN,PMAIP1,RNF152,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,TNFRSF11A,VPS4B,ZCCHC2 chr18 57149994 57150094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBE1 chr18 57150104 57150204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBE1 chr18 57188054 57189095 Gain or loss Breast cancer - 20668451 CCBE1 chr18 57188054 57189095 Gain or loss Cancer - 20668451 CCBE1 chr18 57188054 57189095 Gain or loss Lung cancer - 20668451 CCBE1 chr18 57188054 57189095 Gain or loss Ovarian cancer - 20668451 CCBE1 chr18 57188054 57189095 Gain or loss Pancreas cancer - 20668451 CCBE1 chr18 57188054 57189095 Gain or loss Prostate cancer - 20668451 CCBE1 chr18 57206314 57206414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBE1 chr18 57209808 57209916 Gain and loss Pancreatic cancer SNP array 17952125 CCBE1 chr18 57209808 57209916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCBE1 chr18 57260000 59470000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 CCBE1,CDH20,MC4R,PMAIP1 chr18 57290969 57291061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBE1 chr18 57308755 57373345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCBE1 chr18 57308755 57373345 Gain and loss Pancreatic cancer SNP array 17952125 CCBE1 chr18 57308755 57373345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCBE1 chr18 57358100 57358193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBE1 chr18 57372571 57372767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85741701 85792300 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL10,DDAH1,LOC646626 chr18 57434843 57435078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 57446374 57486452 Loss Normal 244K array 17666407 NOT_FOUND chr18 57474055 57843678 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PMAIP1 chr18 57545897 57546024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 85755495 85774959 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr18 57567191 57571537 Deletion Prostate cancer aCGH 22341455 PMAIP1 chr18 57567191 57571538 Loss Esophageal adenocarcinoma MLPA 18820669 PMAIP1 chr1 85757716 85777862 Duplication Normal TaqMan assays 20972442 NOT_FOUND chr1 85758474 85761407 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 57584803 57584852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 57631583 57711284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 57633283 57711284 Copy number Normal - 20680643 NOT_FOUND chr18 57633284 57711972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 57633284 57711972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 576517 576850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 576522 576850 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 576607 576850 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 57676837 57676931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 57681771 57681871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85769984 85770060 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 85769989 85770060 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 857701 861800 Deletion Glioma mate-paired sequence 20126413 SAMD11 chr18 57724769 58420745 LOH Normal High-resolution SNP genotyping 21211785 MC4R chr18 57742578 57742761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 85775755 85782373 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 85779879 120230763 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCA4,ABCD3,ACTG1P4,ADORA3,AGL,AHCYL1,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,AP4B1,AP4B1-AS1,ARHGAP29,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CNN3,COL11A1,COL24A1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,CYR61,DBT,DCLRE1B,DDAH1,DDX20,DENND2C,DENND2D,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FRRS1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GLMN,GNAI3,GNAT2,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HENMT1,HFM1,HIAT1,HIPK1,HS2ST1,HSD3B1,HSD3B2,HSD3BP4,HSP90B3P,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LINC00622,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC729970,LOC729987,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC8B,LRRC8C,LRRC8D,MAB21L3,MAGI3,MAN1A2,MIR137,MIR137HG,MIR197,MIR2682,MIR320B1,MIR4256,MIR548AA1,MIR548D1,MIR553,MIR760,MIR942,MOV10,MTF2,MYBPHL,NBPF4,NBPF6,NGF,NHLH2,NRAS,NTNG1,ODF2L,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHTF1,PKN2,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGFRN,PTPN22,RAP1A,RBM15,RBMXL1,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SARS,SASS6,SCARNA2,SEP15,SH3GLB1,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC6A17,SNORA66,SNORD21,SNX7,SORT1,SPAG17,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TBX15,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR77,WNT2B,ZNF326,ZNF644,ZNF697,ZNHIT6 chr18 57818590 57818690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 57823706 57825164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 57831958 57832058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85784439 85784539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDAH1 chr18 57862440 58005206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 57862440 58005269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 57862440 58005269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 57879642 57879752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 57880267 57880877 Loss Normal 244K array 17666407 NOT_FOUND chr18 57920701 57920761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 85792301 96241200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCA4,ABCD3,ALG14,ARHGAP29,BARHL2,BCAR3,BRDT,BTBD8,C1orf146,CCBL2,CCDC18,CDC7,CLCA1,CLCA2,CLCA3P,CLCA4,CNN3,COL24A1,CYR61,DDAH1,DNTTIP2,DR1,EPHX4,EVI5,F3,FAM69A,FLJ27354,FLJ31662,FNBP1L,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GTF2B,HFM1,HS2ST1,HSP90B3P,KIAA1107,LMO4,LOC100129046,LOC100131564,LOC100505768,LOC339524,LOC729970,LRRC8B,LRRC8C,LRRC8D,MIR760,MTF2,ODF2L,PKN2,RBMXL1,RPAP2,RPL5,RWDD3,SEP15,SH3GLB1,SLC44A3,SNORA66,SNORD21,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,ZNF326,ZNF644,ZNHIT6 chr18 5794049 5794092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC645355 chr18 57943274 57943443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 85794995 85795095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDAH1 chr18 57962399 58956044 LOH Normal High-resolution SNP genotyping 21211785 MC4R chr18 57984010 57984105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 858000 52858291 Copy numbercopy numberLOH Chronic myeloid leukemia SNP 6.0 Array 21384125 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BEND5,BEST4,BMP8A,BMP8B,BSDC1,BTBD19,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf185,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCDC163P,CCDC17,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,DCDC2B,DDI2,DDOST,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DMBX1,DMRTA2,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPS15,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FAAH,FABP3,FAF1,FAM110D,FAM131C,FAM132A,FAM167B,FAM176B,FAM183A,FAM213B,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXD2,FOXD2-AS1,FOXE3,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HECTD3,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HPDL,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IPP,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130557,LOC100133445,LOC100133612,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC400752,LOC402779,LOC440563,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LRRC38,LRRC41,LRRC47,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NASP,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NUDC,OPRD1,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PIK3R3,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,POMGNT1,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKCZ,PSMB2,PTAFR,PTCH2,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RAD54L,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SAMD11,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SKINTL,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC5A9,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD38A,SNORD38B,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STIL,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TCTEX1D4,TEKT2,TESK2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC34,TTC39A,TTLL10,TXLNA,TXNDC12,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRH,UQCRHL,UROD,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20,ZSWIM5 chr18 58005001 58006500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 58005504 58125334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MC4R chr18 58005504 58125334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MC4R chr18 58005521 58125333 Gain and loss Pancreatic cancer SNP array 17952125 MC4R chr18 58005521 58125333 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 MC4R chr18 58038563 58040000 Deletion Prostate cancer aCGH 22341455 MC4R chr18 58083025 58083343 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 58106730 58106830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 58120812 60134414 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1116K arrays 21546498 CDH20,KIAA1468,PIGN,RNF152,TNFRSF11A chr1 85813469 85813569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDAH1 chr18 58143500 58204482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58143500 58204482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58143527 58204484 Copy number Lung cancer - 20668451 NOT_FOUND chr18 58143527 58204484 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 58143527 58204484 Gain or loss Cancer - 20668451 NOT_FOUND chr18 58143527 58204484 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 58143527 58204484 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 58143527 58204484 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 58143527 58204484 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 58143566 58204482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58143566 58204482 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 85814501 85816000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDAH1 chr18 58149025 58149121 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58149025 58149121 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 58149025 58149125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58149025 58149125 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 58149025 58149127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58171472 58171517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85819041 85821974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDAH1 chr1 85819041 85821974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDAH1 chr18 58230584 58230684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 58234546 76117153 LOH Normal High-resolution SNP genotyping 21211785 BCL2,C18orf62,C18orf63,CBLN2,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CYB5A,DOK6,DSEL,FAM69C,FBXO15,GALR1,HMSD,KDSR,KIAA1468,LINC00305,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MBP,MIR5011,NETO1,PHLPP1,PIGN,RNF152,RTTN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TIMM21,TMX3,TNFRSF11A,TSHZ1,VPS4B,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516 chr18 58249781 58283354 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 58262420 58262484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58262420 58262484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58262420 58262484 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 85827389 85827489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDAH1 chr18 58274857 58274941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85830513 85886122 Gain and loss Pancreatic cancer SNP array 17952125 DDAH1 chr1 85830551 85830627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDAH1 chr18 58341637 58396798 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr18 58341637 58404942 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 58341637 58404942 Gain or loss Cancer - 20668451 NOT_FOUND chr18 58341637 58404942 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 58341637 58404942 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 58341637 58404942 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 58341637 58404942 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 58342474 58404942 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58342475 58396773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58342475 58396773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58362063 58407635 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 5837331 5837431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 58381411 58381511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 58397301 58401400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 58406131 58419060 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 58468521 58468807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58468521 58468807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58468521 58468807 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 58468523 58468818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58504684 58504784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 58533713 58798646 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 58533897 58798646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58533897 58798646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58534939 58798645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58534939 58798645 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 58549439 58549545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58549439 58549545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58549439 58549545 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 58553862 58553962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 58611843 58611943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 58642403 58643704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 85865184 85865284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDAH1 chr18 58656620 58656928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58656620 58656928 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 58675681 58675781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 586998 640291 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLUL1 chr18 586998 640291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLUL1 chr18 586998 640291 Gain and loss Pancreatic cancer SNP array 17952125 CLUL1 chr18 586998 640291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLUL1 chr18 58701917 58702017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 58752616 61093133 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 BCL2,CDH20,KDSR,KIAA1468,PHLPP1,PIGN,RNF152,TNFRSF11A,VPS4B,ZCCHC2 chr18 5881421 5882062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58852176 58930858 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 58868191 61182216 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCL2,CDH20,KDSR,KIAA1468,PHLPP1,PIGN,RNF152,SERPINB5,TNFRSF11A,VPS4B,ZCCHC2 chr18 58894130 58998830 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr1 85891080 85946689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDAH1 chr1 85891080 85946689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDAH1 chr18 58941558 59137637 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 58941558 59137637 Gain or loss Cancer - 20668451 NOT_FOUND chr18 58941558 59137637 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 58941558 59137637 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 58941558 59137637 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 58941558 59137637 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 58941559 59137489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 58941559 59137489 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 58941559 59138341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58941559 59138341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 58944826 58944962 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr18 58985667 58985767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 59000000 61600000 Loss Gastric cancer Array CGH 16891809 BCL2,CDH20,KDSR,KIAA1468,PHLPP1,PIGN,RNF152,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,TNFRSF11A,VPS4B,ZCCHC2 chr18 59000000 66800000 Loss Prostate cancer Array CGH 16573809 BCL2,CCDC102B,CDH19,CDH20,CDH7,DSEL,HMSD,KDSR,KIAA1468,LINC00305,LOC284294,LOC400654,LOC643542,MIR5011,PHLPP1,PIGN,RNF152,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,TMX3,TNFRSF11A,VPS4B,ZCCHC2 chr18 59000000 73100000 Deletion Colorectal cancer PCR 16912164 BCL2,C18orf63,CBLN2,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CYB5A,DOK6,DSEL,FAM69C,FBXO15,HMSD,KDSR,KIAA1468,LINC00305,LOC100505776,LOC100505817,LOC284294,LOC400654,LOC400655,LOC400657,LOC643542,MIR5011,NETO1,PHLPP1,PIGN,RNF152,RTTN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TIMM21,TMX3,TNFRSF11A,TSHZ1,VPS4B,ZADH2,ZCCHC2,ZNF407 chr18 59000000 73100000 Loss Intracranial aneurysm Human 1 cDNA microarray slides 16715129 BCL2,C18orf63,CBLN2,CCDC102B,CD226,CDH19,CDH20,CDH7,CNDP1,CNDP2,CYB5A,DOK6,DSEL,FAM69C,FBXO15,HMSD,KDSR,KIAA1468,LINC00305,LOC100505776,LOC100505817,LOC284294,LOC400654,LOC400655,LOC400657,LOC643542,MIR5011,NETO1,PHLPP1,PIGN,RNF152,RTTN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TIMM21,TMX3,TNFRSF11A,TSHZ1,VPS4B,ZADH2,ZCCHC2,ZNF407 chr18 59024657 59024757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 5904005 5904105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 59055703 59090712 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 85906943 86334142 Gain and loss Pancreatic cancer SNP array 17952125 COL24A1,CYR61,DDAH1,ZNHIT6 chr1 85912184 85912253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDAH1 chr18 59145950 59185486 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH20 chr18 59145951 59185486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH20 chr18 59145951 59185486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH20 chr18 59147984 59183320 Amplification or deletion Cancer Array CGH 17440070 CDH20 chr18 59148813 59185465 Gain and loss Pancreatic cancer SNP array 17952125 CDH20 chr18 59148813 59185465 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 CDH20 chr18 59168308 59168543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH20 chr18 59168562 59168670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH20 chr18 59173131 59173281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH20 chr18 59174436 59751360 LOH Normal High-resolution SNP genotyping 21211785 CDH20,PIGN,RNF152 chr18 59207404 59240732 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH20 chr18 59207404 59240732 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CDH20 chr18 59207407 59240673 Gain and loss Pancreatic cancer SNP array 17952125 CDH20 chr18 59207407 59240673 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 CDH20 chr18 59207407 59240732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH20 chr18 59207407 59240732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH20 chr18 59208281 59208366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH20 chr1 859229 860179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 59249242 59249305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 59295123 59323298 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 59295199 59323297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59315202 59315613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 59315202 59315613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59315202 59315613 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 59348557 59352910 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 59348773 60372949 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KIAA1468,PIGN,RNF152,TNFRSF11A,ZCCHC2 chr18 59357646 61545481 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 BCL2,KDSR,KIAA1468,PHLPP1,PIGN,RNF152,SERPINB11,SERPINB12,SERPINB13,SERPINB3,SERPINB4,SERPINB5,SERPINB7,TNFRSF11A,VPS4B,ZCCHC2 chr18 59374372 59385224 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr18 59374373 59385224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59374373 59385224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 59374373 59385224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 85937451 85937551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDAH1 chr18 59405513 59417412 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr18 59405580 59417410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59405580 59417410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59406861 59415650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 59407852 59407933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 59445847 59445925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 5944705 6404910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 L3MBTL4,MIR4317 chr18 5944713 6301624 Gain and loss Pancreatic cancer SNP array 17952125 L3MBTL4 chr18 59455473 59480107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 59455474 59462482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59455474 59462482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59466170 59466376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 59466434 59466568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 59473410 59480177 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr18 59473412 59480170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59473412 59480170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 5948942 6565744 Allelic imbalance Normal High-resolution SNP genotyping 21211785 L3MBTL4,LOC100130480,MIR4317 chr18 5948942 6565744 Copy number gain Normal High-resolution SNP genotyping 21211785 L3MBTL4,LOC100130480,MIR4317 chr18 59492898 59492998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF152 chr18 5949930 6559810 Allelic imbalance Normal High-resolution SNP genotyping 21211785 L3MBTL4,LOC100130480,MIR4317 chr18 5949930 6559810 Copy number gain Normal High-resolution SNP genotyping 21211785 L3MBTL4,LOC100130480,MIR4317 chr18 59500000 67300000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 BCL2,CCDC102B,CDH19,CDH7,DOK6,DSEL,HMSD,KDSR,KIAA1468,LINC00305,LOC284294,LOC400654,LOC643542,MIR5011,PHLPP1,PIGN,RNF152,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,TMX3,TNFRSF11A,VPS4B,ZCCHC2 chr18 5950194 5953109 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 59506006 59506106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF152 chr18 59517930 59518030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF152 chr18 59521063 59542107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF152 chr18 59521063 59542107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF152 chr18 59557475 59557570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF152 chr18 59571257 59623584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59571257 59623584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 59571282 59623592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 59586308 59586408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 59654439 59654539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 85967504 86394709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL24A1,CYR61,DDAH1,ZNHIT6 chr1 85967504 86394709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL24A1,CYR61,DDAH1,ZNHIT6 chr18 59689906 59722100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGN chr18 59689906 59722100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGN chr18 59705918 59722100 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PIGN chr18 59705922 59722100 Gain and loss Pancreatic cancer SNP array 17952125 PIGN chr18 59711182 59711279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 59713515 59713585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIGN chr18 59713730 59713943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIGN chr18 59726205 59754325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGN chr18 59726205 59754325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGN chr18 59733725 59753456 Gain and loss Pancreatic cancer SNP array 17952125 PIGN chr18 59735514 59735579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIGN chr18 59771670 59778569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGN chr18 59771670 59778569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGN chr18 5977484 6552237 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 L3MBTL4,LOC100130480,MIR4317 chr18 59788238 59807585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGN chr18 59788238 59807585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGN chr18 59788242 59807588 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PIGN chr18 59788243 59807587 Gain and loss Pancreatic cancer SNP array 17952125 PIGN chr18 5979756 5979848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr18 59800000 64900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCL2,CDH19,CDH7,HMSD,KDSR,KIAA1468,LINC00305,LOC284294,LOC400654,MIR5011,PHLPP1,PIGN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,TNFRSF11A,VPS4B,ZCCHC2 chr18 59800000 64900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCL2,CDH19,CDH7,HMSD,KDSR,KIAA1468,LINC00305,LOC284294,LOC400654,MIR5011,PHLPP1,PIGN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,TNFRSF11A,VPS4B,ZCCHC2 chr18 59800000 71300000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 BCL2,CBLN2,CCDC102B,CD226,CDH19,CDH7,DOK6,DSEL,HMSD,KDSR,KIAA1468,LINC00305,LOC100505776,LOC100505817,LOC284294,LOC400654,LOC400655,LOC643542,MIR5011,NETO1,PHLPP1,PIGN,RTTN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TMX3,TNFRSF11A,VPS4B,ZCCHC2 chr18 59800000 71300000 Loss Ovarian cancer Affymetrix 20844748 BCL2,CBLN2,CCDC102B,CD226,CDH19,CDH7,DOK6,DSEL,HMSD,KDSR,KIAA1468,LINC00305,LOC100505776,LOC100505817,LOC284294,LOC400654,LOC400655,LOC643542,MIR5011,NETO1,PHLPP1,PIGN,RTTN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TMX3,TNFRSF11A,VPS4B,ZCCHC2 chr18 59800000 76117153 Copy number Squamous cell cancer aCGH 20885788 BCL2,C18orf62,C18orf63,CBLN2,CCDC102B,CD226,CDH19,CDH7,CNDP1,CNDP2,CYB5A,DOK6,DSEL,FAM69C,FBXO15,GALR1,HMSD,KDSR,KIAA1468,LINC00305,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MBP,MIR5011,NETO1,PHLPP1,PIGN,RTTN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TIMM21,TMX3,TNFRSF11A,TSHZ1,VPS4B,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516 chr18 59800000 76117153 Loss Malignant fibrous histiocytomas aCGH 21085701 BCL2,C18orf62,C18orf63,CBLN2,CCDC102B,CD226,CDH19,CDH7,CNDP1,CNDP2,CYB5A,DOK6,DSEL,FAM69C,FBXO15,GALR1,HMSD,KDSR,KIAA1468,LINC00305,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MBP,MIR5011,NETO1,PHLPP1,PIGN,RTTN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TIMM21,TMX3,TNFRSF11A,TSHZ1,VPS4B,ZADH2,ZCCHC2,ZNF236,ZNF407,ZNF516 chr18 59805813 59806210 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 PIGN chr18 5981270 8406950 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ARHGAP28,L3MBTL4,LAMA1,LINC00668,LOC100130480,LOC100192426,LRRC30,MIR4317,PTPRM chr18 59836 1265507 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ADCYAP1,C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,ROCK1P1,THOC1,TYMS,USP14,YES1 chr18 5986985 5987403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 L3MBTL4 chr18 59890371 59890866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1468 chr18 59898223 59967244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1468 chr18 59898223 59967244 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1468 chr18 59898223 59967244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1468 chr18 5993021 5993125 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 L3MBTL4 chr1 85996510 86164671 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CYR61,DDAH1,ZNHIT6 chr1 85997819 85997919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDAH1 chr18 59984197 60131021 Duplication Normal Affymetrix 6.0 microarrays 20967226 TNFRSF11A chr18 59996755 59996845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNFRSF11A chr18 59997091 59997272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TNFRSF11A chr18 60008338 60413979 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 PHLPP1,TNFRSF11A,ZCCHC2 chr18 60027971 60028071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNFRSF11A chr18 6007722 6007837 Gain and loss Pancreatic cancer SNP array 17952125 L3MBTL4 chr18 6007722 6007838 Gain and loss Pancreatic cancer SNP array 17952125 L3MBTL4 chr18 6007722 6007838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 L3MBTL4 chr18 600984 771970 Gain and loss Barrett's syndrome BAC array 19417022 C18orf56,CLUL1,ENOSF1,TYMS,YES1 chr18 60186868 60188223 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 60187790 60187913 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 60187790 60187913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 60251974 60252064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 60273984 60274084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 60288113 60322180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 6030019 6030114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr18 60306717 60781941 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PHLPP1 chr18 60357409 60357507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 60367667 60367723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 60450270 60450427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHLPP1 chr18 60450282 60450382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHLPP1 chr18 60456978 60457078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHLPP1 chr18 60470234 65464120 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCL2,CDH19,CDH7,DSEL,HMSD,KDSR,LINC00305,LOC284294,LOC400654,LOC643542,MIR5011,PHLPP1,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,VPS4B chr18 60536748 60537061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PHLPP1 chr18 60537805 60571091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PHLPP1 chr18 60551695 60551795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHLPP1 chr18 60573709 60573989 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PHLPP1 chr1 86059047 86298392 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COL24A1,ZNHIT6 chr1 86059047 86433862 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COL24A1,ZNHIT6 chr18 60593114 60593214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHLPP1 chr1 86061382 86061501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 86061384 86061501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 60670000 71640000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 BCL2,CBLN2,CCDC102B,CD226,CDH19,CDH7,DOK6,DSEL,HMSD,KDSR,LINC00305,LOC100505776,LOC100505817,LOC284294,LOC400654,LOC400655,LOC643542,MIR5011,NETO1,RTTN,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SOCS6,TMX3,VPS4B chr18 60686115 60686262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 60790578 60986613 Loss Esophageal adenocarcinoma MLPA 18820669 BCL2 chr18 60795895 60795980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL2 chr18 60876619 60876719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL2 chr18 60950747 60980361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCL2 chr18 60954382 62938215 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1117K arrays 21546498 BCL2,HMSD,KDSR,LINC00305,LOC284294,LOC400654,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,VPS4B chr18 60974599 60974699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL2 chr18 60986390 60990812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCL2 chr18 61069109 61365367 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SERPINB12,SERPINB13,SERPINB3,SERPINB4,SERPINB5,VPS4B chr18 6107498 6107598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr18 61093133 61459720 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 SERPINB11,SERPINB12,SERPINB13,SERPINB3,SERPINB4,SERPINB5,SERPINB7 chr18 61115804 61276902 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 SERPINB12,SERPINB13,SERPINB5 chr18 61147826 61147906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SERPINB5 chr18 61195496 61195596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86121412 86121512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNHIT6 chr18 61218634 61237390 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SERPINB12 chr1 86121951 86122069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNHIT6 chr18 61252014 61252058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 61268473 65054316 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CDH19,CDH7,HMSD,LINC00305,LOC284294,LOC400654,MIR5011,SERPINB10,SERPINB11,SERPINB2,SERPINB3,SERPINB4,SERPINB7,SERPINB8 chr18 61286174 61286274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 61293729 61293816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 61293729 61293816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 61351446 61358191 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 61351459 61358237 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 61353840 61355697 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 61353988 61358237 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 61359207 61359301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 61399607 61399707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 61425574 62631186 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HMSD,LINC00305,LOC284294,LOC400654,SERPINB10,SERPINB2,SERPINB7,SERPINB8 chr18 61459720 66056157 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH19,CDH7,DSEL,HMSD,LINC00305,LOC284294,LOC400654,LOC643542,MIR5011,SERPINB10,SERPINB2,SERPINB7,SERPINB8 chr18 61490319 61490846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 61548739 61548839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 61568467 61699155 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 HMSD,SERPINB10,SERPINB2,SERPINB8 chr18 61568468 61699155 Gain and loss Pancreatic cancer SNP array 17952125 HMSD,SERPINB10,SERPINB2,SERPINB8 chr18 61568468 61703356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HMSD,SERPINB10,SERPINB2,SERPINB8 chr18 61568468 61703356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMSD,SERPINB10,SERPINB2,SERPINB8 chr18 61569136 61699154 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 HMSD,SERPINB10,SERPINB2,SERPINB8 chr18 61593077 61593177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERPINB10 chr18 61600000 73100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 C18orf63,CBLN2,CCDC102B,CD226,CDH19,CDH7,CNDP1,CNDP2,CYB5A,DOK6,DSEL,FAM69C,FBXO15,HMSD,LINC00305,LOC100505776,LOC100505817,LOC284294,LOC400654,LOC400655,LOC400657,LOC643542,MIR5011,NETO1,RTTN,SERPINB10,SERPINB8,SOCS6,TIMM21,TMX3,TSHZ1,ZADH2,ZNF407 chr18 61600000 78077248 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ADNP2,ATP9B,C18orf62,C18orf63,CBLN2,CCDC102B,CD226,CDH19,CDH7,CNDP1,CNDP2,CTDP1,CYB5A,DOK6,DSEL,FAM69C,FBXO15,GALR1,HMSD,HSBP1L1,KCNG2,LINC00305,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,MBP,MIR5011,NETO1,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,RTTN,SALL3,SERPINB10,SERPINB8,SOCS6,TIMM21,TMX3,TSHZ1,TXNL4A,ZADH2,ZNF236,ZNF407,ZNF516 chr18 61621115 65671217 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CDH19,CDH7,DSEL,HMSD,LINC00305,LOC284294,LOC400654,LOC643542,MIR5011,SERPINB8 chr18 61621781 61621881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMSD chr18 61643142 67432063 Loss Bladder cancer array-CGH 21909424 CCDC102B,CDH19,CDH7,DOK6,DSEL,LINC00305,LOC284294,LOC400654,LOC643542,MIR5011,SERPINB8,TMX3 chr18 61651678 66668993 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 CCDC102B,CDH19,CDH7,DSEL,LINC00305,LOC284294,LOC400654,LOC643542,MIR5011,SERPINB8,TMX3 chr18 61684219 61684562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 6171635 6171735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr1 86173303 86177711 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNHIT6 chr1 86173440 86177124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNHIT6 chr1 86178379 86178706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 61786447 61791200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00305,LOC284294 chr18 6180993 6181093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr18 61851254 61872559 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC284294 chr18 61858938 61894678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC284294,LOC400654 chr18 61863327 62021348 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC284294,LOC400654 chr18 61868578 61868650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284294 chr18 61872560 61884639 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC284294,LOC400654 chr18 61874647 61883655 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC284294,LOC400654 chr18 61874812 61883341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284294,LOC400654 chr18 61876553 61881250 Gain Normal 244K array 17666407 LOC284294,LOC400654 chr18 61891924 61892024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284294,LOC400654 chr18 61899781 61899881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284294,LOC400654 chr18 61916001 61922100 Deletion Glioma mate-paired sequence 20126413 LOC284294,LOC400654 chr18 61917850 61920182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284294,LOC400654 chr18 61917888 61920244 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC284294,LOC400654 chr18 61917905 61920159 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC284294,LOC400654 chr18 61918108 61918890 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC284294,LOC400654 chr18 61980604 61984771 Gain Normal Birdsuite, version 1.5.2 22087296 LOC284294 chr18 61980958 61985907 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284294 chr18 6198778 6198878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr18 62004127 62004194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284294 chr18 62010264 62010364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284294 chr18 62030000 64000000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 CDH7,LOC284294 chr18 62042732 62173816 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC284294 chr18 62058576 62062341 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 LOC284294 chr18 62058882 62062341 Deletion Medulloblastoma Illumina SNP arrays 21163964 LOC284294 chr18 62082123 62082218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284294 chr18 62097585 65010233 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 CDH19,CDH7,MIR5011 chr18 62153162 62153262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62157007 62341492 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr18 62157959 62158982 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 62173608 62173798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62173788 62174005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62173804 62173904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62178149 63631249 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH7 chr18 62225423 62493519 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1133K arrays 21546498 NOT_FOUND chr18 62281001 62284137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 62292822 62359990 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 62298939 62299006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62303651 62363540 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 62322300 62422196 Amplification Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr18 62322300 62422196 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 62322301 62422196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 62322301 62422196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 62322301 62422196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 62339910 62340010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62365875 62366183 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 62370671 62372471 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 62370684 62372234 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 6240469 6240501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr18 62421971 62422026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62422224 62425778 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 62471626 62471718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 62485816 62485848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62487627 62487722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62490215 62490446 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 6254811 7920834 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP28,L3MBTL4,LAMA1,LINC00668,LOC100130480,LRRC30,MIR4317,PTPRM chr18 62551469 62551569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 6257367 6257444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr1 86268125 86268860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL24A1 chr18 62689767 62689877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 62693911 62694231 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 62721501 63754327 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDH7 chr18 62764333 62764438 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 62764333 62764439 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 62776114 62809145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 62817801 62817951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 62915195 62915280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 62928206 62930601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 62966191 62966291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 6297133 6297233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL4 chr18 63096504 63130223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 63101089 63118233 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 63101258 63126274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 63103850 63124323 Copy number Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 63104618 63118685 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr18 63104629 63110187 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 63109962 63117577 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 63109962 63117577 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr18 63109994 63118238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 63110187 63110203 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 63110203 63118245 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 63118245 63118698 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 63118698 63119574 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 63142651 63142736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 63163055 63195729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 63199001 63200500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 63238634 63238734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8632641 8632741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RERE chr18 63279425 63279525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 63302626 63303063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 63324799 63335197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 63324799 63335197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 63329187 63332855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 63341445 63373239 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 63356309 63356409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 63406431 63843417 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1121K arrays 21546498 CDH7 chr18 63430962 63479386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH7 chr18 63432414 63489057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH7 chr1 86344600 87364056 LOH Normal High-resolution SNP genotyping 21211785 CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,ODF2L,SEP15,SH3GLB1 chr18 63446553 63468226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH7 chr18 63487059 63487290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH7 chr18 63487277 63487445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH7 chr18 63606492 63607751 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 63648756 63648856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 63661787 63661993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 63662003 63662236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 63670952 63671041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 63759585 63934609 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr18 63883973 63884073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 63884243 63884307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86393001 86395500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL24A1 chr18 639621 648340 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLUL1 chr18 639621 648340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLUL1 chr18 639621 648340 Gain and loss Pancreatic cancer SNP array 17952125 CLUL1 chr18 639621 648340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLUL1 chr18 63997936 64044734 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 63997936 64047897 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 64000000 64040000 Deletion Neuroendocrine carcinoma TaqMan real-time quantitative PCR and commercially available reagents (Applied Biosystems, Foster City, CA, USA) 21139019 NOT_FOUND chr18 64000358 64034323 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 64024457 64024556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64065815 64065882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64098283 64098360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 64122512 64208319 Copy number loss Normal High-resolution SNP genotyping 21211785 CDH19 chr18 64126718 64251503 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 CDH19 chr18 64138015 64411132 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH19 chr18 64159522 64159622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64195537 64218445 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CDH19 chr18 64224239 64224306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH19 chr18 64224755 64636529 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDH19 chr18 64233108 64233161 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH19 chr1 86423860 89357153 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLCA1,CLCA2,CLCA3P,CLCA4,COL24A1,GTF2B,HS2ST1,LMO4,LOC100505768,LOC339524,ODF2L,PKN2,SEP15,SH3GLB1 chr18 6431959 6432044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64324862 64324962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64372299 64372617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 64379656 64380332 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 64379938 64380315 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 64379938 64380315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 64388382 64543942 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr18 64441083 64441178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64447958 65009667 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 MIR5011 chr18 6444961 6445065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 6444961 6445067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 6444963 6445066 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 64491907 64533342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 64491907 64533342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 64491907 64533342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 645198 1339300 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ADCYAP1,C18orf56,CLUL1,ENOSF1,LINC00470,TYMS,YES1 chr18 6452178 6452369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 86453314 86455611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL24A1 chr18 64537207 64537260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64537423 64537523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64616297 64873406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5011 chr18 64616297 64873406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5011 chr18 64654956 64873406 Gain and loss Pancreatic cancer SNP array 17952125 MIR5011 chr18 64675274 64675372 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 64677151 64677257 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 64677151 64677257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 64685507 64723473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 64709372 67347147 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC102B,DOK6,DSEL,LOC643542,MIR5011,TMX3 chr18 64755617 64756617 Gain Osteosarcoma References 21215367 NOT_FOUND chr18 647619 663492 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C18orf56,CLUL1,TYMS chr18 647619 663492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C18orf56,CLUL1,TYMS chr18 647619 663492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C18orf56,CLUL1,TYMS chr18 647651 663499 Gain and loss Pancreatic cancer SNP array 17952125 C18orf56,CLUL1,TYMS chr18 64812093 64846196 Loss Autism - 20841430 NOT_FOUND chr18 64835114 64906488 Copy number Type 2 diabetes ILLumia HumanHap300 BeadChip 21526130 NOT_FOUND chr18 64846196 64877649 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr1 86486330 86486430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL24A1 chr18 64868298 64868398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64877649 64909977 Copy number Normal - 20703242 NOT_FOUND chr18 64890559 64939249 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 64893244 64904294 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 64893256 64897086 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 64893256 64909246 Copy number Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 64893386 64908663 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr18 64894834 64907837 Loss Normal 244K array 17666407 NOT_FOUND chr18 64895278 64907853 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 64895278 64907853 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 64896575 64907979 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 64896637 64907853 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 64897086 64904306 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 64897086 64909246 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr18 64897312 64897489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 64897431 64897489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 64900000 66900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CCDC102B,DSEL,LOC643542,TMX3 chr18 64900000 66900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CCDC102B,DSEL,LOC643542,TMX3 chr18 64900000 71300000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 CBLN2,CCDC102B,CD226,DOK6,DSEL,LOC100505776,LOC100505817,LOC400655,LOC643542,NETO1,RTTN,SOCS6,TMX3 chr18 64904306 64908689 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 64908689 64909246 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 64914788 64914888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 64953366 67496827 Loss or gain Normal 244K array 17666407 CCDC102B,DOK6,DSEL,LOC643542,TMX3 chr18 65002582 65002680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 65036853 65036953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 65118986 74193569 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C18orf62,C18orf63,CBLN2,CCDC102B,CD226,CNDP1,CNDP2,CYB5A,DOK6,DSEL,FAM69C,FBXO15,LOC100505776,LOC100505817,LOC339298,LOC400655,LOC400657,LOC643542,NETO1,RTTN,SOCS6,TIMM21,TMX3,TSHZ1,ZADH2,ZNF407,ZNF516 chr1 86511901 86516200 Deletion Glioma mate-paired sequence 20126413 COL24A1 chr18 65131219 65132219 Gain Osteosarcoma References 21215367 NOT_FOUND chr1 86513569 86514285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL24A1 chr18 65143796 65145076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 65165847 65165947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 65219270 65660359 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LOC643542 chr18 65219271 65660357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC643542 chr18 65219271 65660357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643542 chr18 65229134 65229229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643542 chr18 6527292 6841459 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ARHGAP28,LOC100130480 chr1 86527799 86573992 Gain and loss Pancreatic cancer SNP array 17952125 COL24A1 chr18 6531311 6531499 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC100130480 chr18 65314534 65314634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643542 chr18 65339977 65340077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643542 chr18 65358207 65358832 Loss Normal Birdsuite, version 1.5.2 22087296 LOC643542 chr18 65358832 65367619 Deletion Attention deficit hyperactivity disorder - 22138692 LOC643542 chr18 65358832 65368255 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC643542 chr18 65359307 65372326 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC643542 chr18 65359337 65368436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC643542 chr18 65368255 65368807 Loss Normal Birdsuite, version 1.5.2 22087296 LOC643542 chr18 65371675 65371775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC643542 chr18 65434623 65434703 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC643542 chr1 86553847 86553947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL24A1 chr18 65569116 65569216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 65602133 65602233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 65623668 65965660 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1129K arrays 21546498 NOT_FOUND chr18 65681172 65775212 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 65681175 65775140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 65681175 65775140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 65681175 65775140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 65687101 65699795 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 65733845 65762749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 65736224 65871226 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr18 65748313 65779636 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr18 65748750 65748850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 657603 673499 Deletion Colorectal cancer qPCR 18855534 C18orf56,ENOSF1,TYMS chr18 65764906 65880313 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr18 65774255 66906939 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC102B,TMX3 chr1 86581341 86634591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL24A1 chr1 86581341 86634591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL24A1 chr18 65822025 66023942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 65822025 66023942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 65822025 66023944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 65846167 65846226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86586999 86634591 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 COL24A1 chr18 6591539 6591828 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 6591539 6591828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 6591539 6591839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 65940104 65940204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86594216 86595786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL24A1 chr18 65955235 65955335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86601889 86634255 Gain and loss Pancreatic cancer SNP array 17952125 COL24A1 chr18 66023354 76117153 Copy number Lung cancer paired-end sequencing 18438408 C18orf62,C18orf63,CBLN2,CCDC102B,CD226,CNDP1,CNDP2,CYB5A,DOK6,FAM69C,FBXO15,GALR1,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC339298,LOC400655,LOC400657,MBP,NETO1,RTTN,SOCS6,TIMM21,TMX3,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 66028819 72860784 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 C18orf63,CBLN2,CCDC102B,CD226,CNDP1,CNDP2,CYB5A,DOK6,FAM69C,FBXO15,LOC100505776,LOC100505817,LOC400655,LOC400657,NETO1,RTTN,SOCS6,TIMM21,TMX3,ZNF407 chr18 66034043 66034141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 66100579 66100903 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 66104327 66106410 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 66107116 66148414 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr18 66107116 66148414 Copy number Lung cancer - 20668451 NOT_FOUND chr18 66107116 66148414 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 66107116 66148414 Gain or loss Cancer - 20668451 NOT_FOUND chr18 66107116 66148414 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 66107116 66148414 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 66107116 66148414 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 66107116 66148414 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 66107117 66148414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 66107117 66148414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 66107243 66145328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 66122020 66122120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 66133549 66223476 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 86624114 86624267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 66248447 66249338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 66248447 66249338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 66248447 66249338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 66274064 66292408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 66294229 66294292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 66330943 66331213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 66330943 66331213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 66330943 66331226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 66340924 66382352 Deletion Prostate cancer aCGH 22341455 TMX3 chr18 66361015 66361115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMX3 chr18 66369448 66369548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMX3 chr18 663900 702642 Gain and loss Pancreatic cancer SNP array 17952125 ENOSF1,TYMS chr18 663918 702642 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ENOSF1,TYMS chr18 663918 702642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENOSF1,TYMS chr18 663918 702642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENOSF1,TYMS chr18 66415491 66415591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC102B chr1 86642565 86642949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 66426586 66426686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC102B chr18 66448776 66468926 Gain and loss Pancreatic cancer SNP array 17952125 CCDC102B chr18 66458884 66458943 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CCDC102B chr1 86646072 86677965 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 66518994 66519094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC102B chr1 86655020 86655340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 66565926 66566026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC102B chr18 66572499 66572599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC102B chr18 66572517 66572672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC102B chr1 86662356 86694828 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr1 86662413 86694826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 86662413 86694826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 66708836 66710855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC102B chr18 66709130 66711150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC102B chr1 86676913 86808628 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 66800000 68700000 Deletion Colorectal cancer PCR 16912164 CD226,DOK6,RTTN,SOCS6 chr18 66800000 68700000 Loss Basal cell lymphoma Array CGH 16317097 CD226,DOK6,RTTN,SOCS6 chr18 66800000 68700000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 CD226,DOK6,RTTN,SOCS6 chr18 66800000 73100000 Deletion Colorectal cancer PCR 16912164 C18orf63,CBLN2,CD226,CNDP1,CNDP2,CYB5A,DOK6,FAM69C,FBXO15,LOC100505776,LOC100505817,LOC400655,LOC400657,NETO1,RTTN,SOCS6,TIMM21,TSHZ1,ZADH2,ZNF407 chr18 6680637 6702558 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 66814573 66814673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 66846501 66850500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 66872083 66906930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 66875340 66875649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 66900000 71300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CBLN2,CD226,DOK6,LOC100505776,LOC100505817,LOC400655,NETO1,RTTN,SOCS6 chr18 66900000 71300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CBLN2,CD226,DOK6,LOC100505776,LOC100505817,LOC400655,NETO1,RTTN,SOCS6 chr18 66900000 71300000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 CBLN2,CD226,DOK6,LOC100505776,LOC100505817,LOC400655,NETO1,RTTN,SOCS6 chr18 66900000 71300000 Loss Urothelial cell carcinoma FISH 18451213 CBLN2,CD226,DOK6,LOC100505776,LOC100505817,LOC400655,NETO1,RTTN,SOCS6 chr18 66900000 76117153 Gain or loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 C18orf62,C18orf63,CBLN2,CD226,CNDP1,CNDP2,CYB5A,DOK6,FAM69C,FBXO15,GALR1,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC339298,LOC400655,LOC400657,MBP,NETO1,RTTN,SOCS6,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 66911259 66913397 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 66915191 66915466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 66930986 66931086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 66932826 66932926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 66959625 66993795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 66972377 70364052 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CBLN2,CD226,DOK6,LOC100505776,RTTN,SOCS6 chr18 66984247 67004245 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 66997705 66998038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 86706639 86738560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 86706639 86738560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 67068283 67516322 Deletion Prostate cancer aCGH 22341455 DOK6 chr18 67087571 67087671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOK6 chr18 67147751 68048673 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CD226,DOK6,RTTN,SOCS6 chr18 67160060 67160205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOK6 chr18 67218674 67257917 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DOK6 chr18 67227801 67231900 Deletion Glioma mate-paired sequence 20126413 DOK6 chr18 67246369 67246875 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOK6 chr1 86724782 86758451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 86729634 86729734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 67487975 67659346 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD226,DOK6 chr18 67494753 67494853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOK6 chr18 67504424 67504524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOK6 chr18 6752909 6933645 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGAP28,LINC00668 chr18 67530191 67624231 Deletion Prostate cancer aCGH 22341455 CD226 chr18 6753148 6753248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 67545841 67545941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD226 chr18 67557498 67557598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD226 chr18 67558289 67558389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD226 chr18 6758579 7212549 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP28,LAMA1,LINC00668 chr18 67635301 68763261 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 RTTN,SOCS6 chr18 67671039 67872961 Deletion Prostate cancer aCGH 22341455 RTTN chr18 67703807 68125877 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RTTN,SOCS6 chr18 67728273 67741372 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RTTN chr18 6778713 6903779 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP28 chr18 6778713 6905699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP28 chr18 6778713 6905699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP28 chr18 67822149 67822249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTTN chr1 86785347 86819025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ODF2L chr18 67862996 67863850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RTTN chr18 67894070 67894140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86790896 86791613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 67913992 67915045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 67917505 68118134 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SOCS6 chr18 67956136 67997433 Deletion Prostate cancer aCGH 22341455 SOCS6 chr18 68015384 68085984 Loss Normal 244K array 17666407 NOT_FOUND chr18 68047740 68048055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 68048673 69094905 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr18 68056754 68059014 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 6807543 6807643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 68110376 68110476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86811987 86833080 Gain and loss Pancreatic cancer SNP array 17952125 ODF2L chr18 68125187 68125272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 68156003 68271901 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr18 68277642 68277990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 68292300 68715474 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 68317447 68317547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 68354895 68362542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 68354895 68362542 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 68354895 68362542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 6836738 6869036 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP28 chr18 68391315 68391389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 68399695 68399794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 68420857 68420957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86844541 86844628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ODF2L chr18 68460776 68460876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 68504200 68504401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 86854432 86859851 Gain Normal Birdsuite, version 1.5.2 22087296 ODF2L chr18 68560531 68685790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 68565767 68685790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 68565767 68685790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 68610050 68645847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 68650070 68650132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 68665599 68665696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 86867892 86867981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 68700000 73100000 Copy number Prostate cancer 250K Sty SNP Array 19156837 C18orf63,CBLN2,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,LOC100505776,LOC100505817,LOC400655,LOC400657,NETO1,TIMM21,TSHZ1,ZADH2,ZNF407 chr18 68700000 73100000 Gain or loss Esophageal squamous carcinoma Array CGH 17470683 C18orf63,CBLN2,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,LOC100505776,LOC100505817,LOC400655,LOC400657,NETO1,TIMM21,TSHZ1,ZADH2,ZNF407 chr18 68700000 73100000 Loss Esophageal squamous carcinoma Array CGH 17470683 C18orf63,CBLN2,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,LOC100505776,LOC100505817,LOC400655,LOC400657,NETO1,TIMM21,TSHZ1,ZADH2,ZNF407 chr18 68700000 78077248 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ADNP2,ATP9B,C18orf62,C18orf63,CBLN2,CNDP1,CNDP2,CTDP1,CYB5A,FAM69C,FBXO15,GALR1,HSBP1L1,KCNG2,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC339298,LOC400655,LOC400657,MBP,NETO1,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,SALL3,TIMM21,TSHZ1,TXNL4A,ZADH2,ZNF236,ZNF407,ZNF516 chr18 6872413 6872513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP28 chr1 86872547 86893647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLCA2 chr1 86872547 86893647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCA2 chr18 68763261 76117153 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 C18orf62,C18orf63,CBLN2,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC100505776,LOC100505817,LOC284276,LOC339298,LOC400655,LOC400657,MBP,NETO1,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 68780594 68793635 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 68782200 68793469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 68782305 68800000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 68795166 68802873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 86882489 86921290 Gain and loss Pancreatic cancer SNP array 17952125 CLCA2 chr18 68831482 68865298 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 68846805 68861758 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 68846805 68865298 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 68846805 68868307 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 68853638 68865298 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 68896098 69248883 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100505776 chr18 68980809 68980909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8690342 8690380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RERE chr18 69039514 69822140 Deletion Autism Array CGH 22102821 LOC100505776 chr18 69060000 69180000 Loss Acute lymphoblastic leukemia - 21339820 NOT_FOUND chr18 69129799 69130113 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 69129827 69130141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 69142718 69142818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69208728 69209657 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100505776 chr18 69208767 69209696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100505776 chr18 6926911 6927018 Gain and loss Pancreatic cancer SNP array 17952125 LINC00668 chr18 6926911 6927019 Gain and loss Pancreatic cancer SNP array 17952125 LINC00668 chr18 69277454 69495207 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 6931885 7107813 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 LAMA1 chr18 6931888 7070033 Gain and loss Pancreatic cancer SNP array 17952125 LAMA1 chr18 6931888 7107813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMA1 chr18 6931888 7107813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMA1 chr18 6932000 16532000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LAMA1,LOC100192426,LOC100288122,LOC644669,LRRC30,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,NAPG,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SOGA2,SPIRE1,TUBB6,TWSG1,TXNDC2,VAPA,ZNF519 chr18 69347901 69348001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69397065 69551078 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr18 69397416 69397516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69420105 69464776 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 69424377 69424697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 86942853 86986455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLCA1 chr1 86942853 86986455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCA1 chr1 869459 884494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOC2L,SAMD11 chr1 869459 884494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOC2L,SAMD11 chr18 69480000 72320000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 C18orf63,CBLN2,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,LOC100505817,LOC400655,LOC400657,NETO1,TIMM21 chr18 69501773 72059229 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 C18orf63,CBLN2,CYB5A,FBXO15,LOC100505817,LOC400655,NETO1,TIMM21 chr18 6953766 6953844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMA1 chr18 69563150 69563444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 69563150 69563445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 69563150 69563445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 69563150 69563445 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 69595188 69595522 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 69595889 69595989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69600808 69600987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69600890 69600990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69600978 69601151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69607819 69607880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 69617510 76117153 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 C18orf62,C18orf63,CBLN2,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC100505817,LOC284276,LOC339298,LOC400655,LOC400657,MBP,NETO1,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr1 86962614 86963171 Gain and loss Pancreatic cancer SNP array 17952125 CLCA1 chr18 69652972 70364052 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CBLN2 chr18 69689122 69689192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69887559 69932279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 69891567 69966080 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 69891581 69966020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 69891581 69966020 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 69891586 69965929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 69891586 69965929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 69934085 69934172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 69966725 69977184 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 69966766 69977000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 69966766 69977000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 69966766 69977000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 69966766 69977000 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr1 8700000 16000000 Deletion renal disease Array CGH, FISH 17924346 AADACL3,AADACL4,AGMAT,AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf126,C1orf127,C1orf158,C1orf200,CA6,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC16,DRAXIN,EFHD2,ENO1,ENO1-AS1,EXOSC10,FBXO2,FBXO44,FBXO6,FHAD1,GPR157,H6PD,HNRNPCL1,KAZN,KIAA2013,KIF1B,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PDPN,PEX14,PGD,PIK3CD,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RERE,RSC1A1,SLC25A33,SLC2A5,SLC2A7,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TMEM201,TMEM51,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,VPS13D chr18 70028662 70028746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 70045721 70046016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70045721 70046017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 70045721 70046017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70045721 70046017 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 70049800 70152294 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr18 70071506 70110201 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 70071508 70110201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70071508 70110201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70071512 70110155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 70071512 70110155 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr18 70102886 70137952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 70109001 70110500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 70112002 70112101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 70133501 70135000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 70134090 70177398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70134090 70177398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70139000 79739000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ADNP2,ATP9B,C18orf62,C18orf63,CBLN2,CNDP1,CNDP2,CTDP1,CYB5A,FAM69C,FBXO15,GALR1,HSBP1L1,KCNG2,LOC100131655,LOC100505817,LOC284276,LOC339298,LOC400655,LOC400657,MBP,NETO1,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,SALL3,TIMM21,TSHZ1,TXNL4A,ZADH2,ZNF236,ZNF407,ZNF516 chr1 87015172 87049809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLCA4 chr18 70175558 70175792 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 70199001 70386500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBLN2 chr18 70203914 70211722 Deletion Prostate cancer aCGH 22341455 CBLN2 chr18 70208099 70208524 Gain and loss Pancreatic cancer SNP array 17952125 CBLN2 chr18 70208454 70224932 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CBLN2 chr1 87023184 87023738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCA4 chr18 70253944 70265498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 70253944 70276159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70253944 70276159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70303409 70303748 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 70314576 70339336 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 70314577 70339336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70314577 70339336 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 70314577 70339336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70352671 70403241 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 70352672 70403237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70352672 70403237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 70352683 70403239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 87040151 87092128 Gain and loss Pancreatic cancer SNP array 17952125 CLCA4 chr18 70409991 70416051 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NETO1 chr18 70411054 70416040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NETO1 chr18 70411054 70416040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NETO1 chr18 70414786 70534809 Deletion Prostate cancer aCGH 22341455 NETO1 chr18 70416108 70474315 Gain and loss Pancreatic cancer SNP array 17952125 NETO1 chr18 70427587 70474981 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NETO1 chr18 70427587 70477803 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NETO1 chr18 70430226 70474981 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NETO1 chr18 704483 73094966 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf61,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CHMP1B,CHST9,CHST9-AS1,CIDEA,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284294,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 70471907 70906616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC400655,NETO1 chr18 70471907 70906616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC400655,NETO1 chr18 70474523 70508506 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NETO1 chr18 70475211 70906613 Gain and loss Pancreatic cancer SNP array 17952125 LOC400655,NETO1 chr18 70507973 70508073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NETO1 chr18 70522053 70555629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NETO1 chr18 70522812 71818714 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FBXO15,LOC100505817,LOC400655,NETO1,TIMM21 chr18 70522812 71818714 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FBXO15,LOC100505817,LOC400655,NETO1,TIMM21 chr18 7058084 7795292 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LAMA1,LRRC30,PTPRM chr18 70598332 70598432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 70603033 70603147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 70605215 70605315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 7063837 7063889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LAMA1 chr18 70655777 70655839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 70718277 70718277 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr18 7072885 7072964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LAMA1 chr18 70753969 70798864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 70768420 70768520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 7079886 7359571 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 LAMA1,LRRC30 chr18 70853231 70853350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC400655 chr18 70861624 70861724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC400655 chr18 70901581 70946896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC400655 chr18 70902501 71053500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100505817,LOC400655 chr18 70908382 70908596 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC400655 chr1 87092383 87346905 Gain and loss Pancreatic cancer SNP array 17952125 CLCA3P,SEP15,SH3GLB1 chr18 70946828 70947196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 70968489 70968589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 7100000 15400000 Deletion Acute myeloid leukemia Human Genome CGH 44k microarrays 17377590 AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LAMA1,LOC100192426,LOC100288122,LOC644669,LRRC30,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,NAPG,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SOGA2,SPIRE1,TUBB6,TWSG1,TXNDC2,VAPA,ZNF519 chr18 7100000 15400000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LAMA1,LOC100192426,LOC100288122,LOC644669,LRRC30,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,NAPG,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SOGA2,SPIRE1,TUBB6,TWSG1,TXNDC2,VAPA,ZNF519 chr1 87100715 87152695 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CLCA3P chr1 87100718 87152695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLCA3P chr1 87100718 87152695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLCA3P chr18 71039209 71062175 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr18 71039477 71050105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 71039477 71050105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 71051719 71130886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 71051719 71130886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 71052130 71130665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 71060000 71760000 Loss Acute lymphoblastic leukemia - 21339820 FBXO15 chr18 71078592 71078692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71090001 71092000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 71101784 71101873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71107821 71107921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71130955 71176149 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 71156329 71156418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 711588 802327 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ENOSF1,YES1 chr18 711588 802327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENOSF1,YES1 chr18 711588 802327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENOSF1,YES1 chr18 711750 802327 Gain and loss Pancreatic cancer SNP array 17952125 ENOSF1,YES1 chr18 7124929 7125815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 71250419 71268646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 71250419 71268646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 71271593 71273326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 71281381 71281481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71300000 76117153 Amplification Neuroblastoma Agilent 44K and 244K platform aCGH 21508638 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 71300000 76117153 Amplification or deletion Normal BAC aCGH 22315515 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 71300000 76117153 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 71300000 76117153 Copy number Normal - 20680643 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 71300000 76117153 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 71300000 76117153 Deletion Cutaneous T-cell lymphoma SNP array 21881587 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 71300000 76117153 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 71300000 76117153 Loss Urothelial cell carcinoma FISH 18451213 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,GALR1,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 7134225 7136816 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 7134240 7136923 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 71355616 71355717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71383884 71383984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71400617 71401200 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 71400697 71401164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 71431997 71432314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 71432150 71432298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 714630 722830 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 YES1 chr18 71478691 74906480 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 C18orf62,C18orf63,CNDP1,CNDP2,CYB5A,FAM69C,FBXO15,LOC100131655,LOC284276,LOC339298,LOC400657,MBP,TIMM21,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr1 87152919 87407475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HS2ST1,SEP15,SH3GLB1 chr1 87152919 87407475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS2ST1,SEP15,SH3GLB1 chr1 87152949 87407472 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 HS2ST1,SEP15,SH3GLB1 chr18 71537569 71537649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 71560743 71560843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 7156148 7156248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71608562 71608652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71698995 71699319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 71718769 71718869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71740587 71815099 Deletion Prostate cancer aCGH 22341455 FBXO15 chr18 71748641 71748692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBXO15 chr18 71815745 71826203 Deletion Prostate cancer aCGH 22341455 TIMM21 chr18 71900793 71907711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 71909161 71909240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71910080 71910163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 71920526 71959220 Deletion Prostate cancer aCGH 22341455 CYB5A chr18 7192739 7657575 Duplication Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 LRRC30,PTPRM chr18 71928382 71935724 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CYB5A chr18 7200000 76117153 Gain Acute lymphoblastic leukemia array CGH 17690704 ABHD3,ACAA2,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf54,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CHMP1B,CHST9,CHST9-AS1,CIDEA,CNDP1,CNDP2,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,LAMA3,LINC-ROR,LINC00305,LINC00669,LIPG,LMAN1,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC728606,LOC729950,LOXHD1,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYO5B,NAPG,NARS,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TIMM21,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,VAPA,VPS4B,WBP11P1,WDR7,ZADH2,ZBTB7C,ZCCHC2,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 72030656 72031026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 72059229 73861073 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 C18orf62,CNDP1,CNDP2,FAM69C,LOC339298,LOC400657,TSHZ1,ZADH2,ZNF407 chr18 72079154 72079254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 72086321 72086511 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr18 72100759 73593885 Loss Prostate cancer Array CGH 18632612 C18orf62,CNDP1,CNDP2,FAM69C,LOC400657,TSHZ1,ZADH2,ZNF407 chr18 72101117 72101217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 72101724 72101773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 72102962 72124502 Deletion Prostate cancer aCGH 22341455 FAM69C chr1 87214191 87214271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 72163499 72190688 Deletion Prostate cancer aCGH 22341455 CNDP2 chr18 72178602 72854154 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNDP1,CNDP2,LOC400657,ZNF407 chr18 72182624 72182724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNDP2 chr18 72186595 72186670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNDP2 chr18 72187501 72189500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNDP2 chr18 72189501 74223000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C18orf62,CNDP1,CNDP2,LOC339298,LOC400657,TSHZ1,ZADH2,ZNF407,ZNF516 chr18 72189880 72194448 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CNDP2 chr18 72200606 72304043 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CNDP1,LOC400657 chr18 72201218 72336134 Gain and loss Pancreatic cancer SNP array 17952125 CNDP1,LOC400657 chr18 72201218 72336134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNDP1,LOC400657 chr18 72201691 72252260 Deletion Prostate cancer aCGH 22341455 CNDP1 chr18 7221137 7222042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 7221137 7222042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 72213124 72213224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNDP1 chr18 72232001 72237500 Deletion Glioma mate-paired sequence 20126413 CNDP1 chr18 72264861 72264922 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC400657 chr18 72308042 72308311 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 72335861 72335961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 72336465 72339033 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 72336465 72339033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 72342918 72777627 Deletion Prostate cancer aCGH 22341455 ZNF407 chr18 72346690 72346788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72385100 72385200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr1 87240932 87242703 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 72436933 76115554 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 C18orf62,GALR1,LOC100131655,LOC284276,LOC339298,MBP,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 72466629 72481370 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF407 chr18 72466629 72489647 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF407 chr18 72469755 72481370 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF407 chr18 72474101 72479000 Deletion Glioma mate-paired sequence 20126413 ZNF407 chr18 72476185 72476972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF407 chr18 72481616 72481716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72494353 72494658 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF407 chr18 72503936 72504036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72509892 72509992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72525287 72525361 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ZNF407 chr1 8725266 8725366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RERE chr18 72531129 72531521 Gain and loss Pancreatic cancer SNP array 17952125 ZNF407 chr18 7256581 7256665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 72597889 72974341 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 TSHZ1,ZADH2,ZNF407 chr18 72633533 72633848 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF407 chr18 72636673 72636754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72650000 75760000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 C18orf62,GALR1,LOC100131655,LOC284276,LOC339298,MBP,TSHZ1,ZADH2,ZNF236,ZNF407,ZNF516 chr18 72663551 72811668 Gain and loss Pancreatic cancer SNP array 17952125 ZNF407 chr18 72665103 72811670 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ZNF407 chr18 72665104 72811668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF407 chr18 72665104 72811668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF407 chr18 72742902 73144551 Gain small cell lung cancer Real-time Quantitative PCR 17426248 C18orf62,TSHZ1,ZADH2,ZNF407 chr18 72756189 72756289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72760316 72760411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72769563 72769663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72772312 72772360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF407 chr18 72785291 72793785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 72819771 72973788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSHZ1,ZADH2 chr18 72819771 72973788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSHZ1,ZADH2 chr18 72819784 72973702 Gain and loss Pancreatic cancer SNP array 17952125 TSHZ1,ZADH2 chr1 87283206 87284142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 72837580 72837660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 87284146 87284971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 72852582 72852682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 72894986 72895040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 72898759 72899059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 72900000 73900000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 C18orf62,LOC339298,TSHZ1,ZADH2 chr18 72909277 72921280 Deletion Prostate cancer aCGH 22341455 ZADH2 chr18 7291018 7291151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 7291021 7291151 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 72922730 73001900 Deletion Prostate cancer aCGH 22341455 TSHZ1 chr18 72923809 72923809 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TSHZ1 chr18 72932330 72932409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ1 chr18 72938897 72938991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ1 chr18 73039868 73039868 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 73047414 73306926 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C18orf62 chr1 87307408 87307632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 73076907 73109120 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 73089104 74986531 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C18orf62,GALR1,LOC100131655,LOC284276,LOC339298,MBP,ZNF236,ZNF516 chr18 73090721 73111081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 73090721 73111081 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 73090721 73111081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 73090995 73111084 Copy number Lung cancer - 20668451 NOT_FOUND chr18 73090995 73111084 Gain or loss Breast cancer - 20668451 NOT_FOUND chr18 73090995 73111084 Gain or loss Cancer - 20668451 NOT_FOUND chr18 73090995 73111084 Gain or loss Lung cancer - 20668451 NOT_FOUND chr18 73090995 73111084 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr18 73090995 73111084 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr18 73090995 73111084 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr18 73100000 78077248 Duplication Mental retardation array CGH 17124404 ADNP2,ATP9B,C18orf62,CTDP1,GALR1,HSBP1L1,KCNG2,LOC100131655,LOC284276,LOC339298,MBP,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,SALL3,TXNL4A,ZNF236,ZNF516 chr18 73100000 78077248 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADNP2,ATP9B,C18orf62,CTDP1,GALR1,HSBP1L1,KCNG2,LOC100131655,LOC284276,LOC339298,MBP,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,SALL3,TXNL4A,ZNF236,ZNF516 chr18 73100000 78077248 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 ADNP2,ATP9B,C18orf62,CTDP1,GALR1,HSBP1L1,KCNG2,LOC100131655,LOC284276,LOC339298,MBP,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,SALL3,TXNL4A,ZNF236,ZNF516 chr18 73100000 78077248 Gain Fibroblasts Bacterial Artificial Chromosome Array CGH 17951408 ADNP2,ATP9B,C18orf62,CTDP1,GALR1,HSBP1L1,KCNG2,LOC100131655,LOC284276,LOC339298,MBP,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,SALL3,TXNL4A,ZNF236,ZNF516 chr18 73100000 78077248 Gain Lung cancer Bacterial Artificial Chromosome Array CGH 17951408 ADNP2,ATP9B,C18orf62,CTDP1,GALR1,HSBP1L1,KCNG2,LOC100131655,LOC284276,LOC339298,MBP,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,SALL3,TXNL4A,ZNF236,ZNF516 chr18 73100000 78077248 Gain or loss Esophageal squamous carcinoma Array CGH 17470683 ADNP2,ATP9B,C18orf62,CTDP1,GALR1,HSBP1L1,KCNG2,LOC100131655,LOC284276,LOC339298,MBP,NFATC1,PARD6G,PARD6G-AS1,PQLC1,RBFA,SALL3,TXNL4A,ZNF236,ZNF516 chr18 73116034 73134527 Loss Normal 244K array 17666407 C18orf62 chr1 87318770 87335425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEP15 chr18 73266427 73266527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73272507 73272632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 73272507 73272633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 73272507 73272633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 73274164 73274264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8733076 8733733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr18 73321493 73321653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73321674 73321824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 87332366 88909085 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HS2ST1,LMO4,LOC100505768,LOC339524,SEP15 chr18 73338071 73338166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73338962 73339062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73389963 73390523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 73395986 73397147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 73413799 73413899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73414796 73414896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73427377 73427477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73451838 73451903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73459487 74285542 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC284276,LOC339298,ZNF516 chr18 73500000 76070000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 GALR1,LOC100131655,LOC284276,LOC339298,MBP,ZNF236,ZNF516 chr18 73505874 73505974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 735462 758567 Duplication Schizophrenia NimbleGen HD2 platform 21346763 YES1 chr18 73552480 73552568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73564681 76023577 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 GALR1,LOC100131655,LOC284276,LOC339298,MBP,ZNF236,ZNF516 chr18 73603873 73603973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73621942 73622042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73641573 73670484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 73682661 73682754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 87370273 87371306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEP15 chr18 73707872 73707972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73747017 73747117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73767206 73767306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73773983 73788496 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 73773983 73790730 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr18 73813298 73813398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73861073 75808227 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 GALR1,LOC100131655,LOC284276,MBP,ZNF236,ZNF516 chr1 87386259 87386359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS2ST1 chr1 87388008 120033702 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCA4,ABCD3,ACTG1P4,ADORA3,AGL,AHCYL1,AKNAD1,AKR7A2P1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,AP4B1,AP4B1-AS1,ARHGAP29,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BARHL2,BCAR3,BCAS2,BCL2L15,BRDT,BTBD8,C1orf146,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CCBL2,CCDC18,CD101,CD2,CD53,CD58,CDC14A,CDC7,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,CNN3,COL11A1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DBT,DCLRE1B,DDX20,DENND2C,DENND2D,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FAM69A,FLJ27354,FLJ31662,FNBP1L,FNDC7,FRRS1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GDAP2,GEMIN8P4,GFI1,GLMN,GNAI3,GNAT2,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,HAO2,HENMT1,HFM1,HIAT1,HIPK1,HS2ST1,HSD3B2,HSP90B3P,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1107,KIAA1324,LAMTOR5,LMO4,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100131564,LOC100505768,LOC100506343,LOC339524,LOC440600,LOC643355,LOC643441,LOC729970,LOC729987,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC8B,LRRC8C,LRRC8D,MAB21L3,MAGI3,MAN1A2,MIR137,MIR137HG,MIR197,MIR2682,MIR320B1,MIR4256,MIR548AA1,MIR548D1,MIR553,MIR760,MIR942,MOV10,MTF2,MYBPHL,NBPF4,NBPF6,NGF,NHLH2,NRAS,NTNG1,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHTF1,PKN2,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,PTGFRN,PTPN22,RAP1A,RBM15,RBMXL1,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RPAP2,RPL5,RSBN1,RTCA,RWDD3,S1PR1,SARS,SASS6,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC6A17,SNORA66,SNORD21,SNX7,SORT1,SPAG17,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TBX15,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR77,WNT2B,ZNF326,ZNF644 chr1 87389569 87389716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS2ST1 chr18 73897727 73897829 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 73897727 73897833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 73897727 73897840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 73934005 73935346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 73936655 73936725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73953783 73953936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 73953923 73954149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74000000 76120000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 GALR1,LOC100131655,LOC284276,MBP,ZNF236,ZNF516 chr18 74040530 74040590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74069636 74207145 Deletion Prostate cancer aCGH 22341455 ZNF516 chr18 74098272 74098603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF516 chr18 74108474 74143162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF516 chr18 74122432 74122531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF516 chr18 74125373 74378820 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC284276,ZNF516 chr18 74150091 74168482 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF516 chr18 74158786 74158881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF516 chr18 74181499 74378820 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC284276,ZNF516 chr18 74200000 76150000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 GALR1,LOC100131655,LOC284276,MBP,ZNF236,ZNF516 chr18 7420000 7580000 Loss Acute lymphoblastic leukemia - 21339820 PTPRM chr18 74201563 74201663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF516 chr18 74222829 74247926 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC284276 chr18 74223001 74335000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC284276 chr18 74230990 74231179 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 74251453 74251553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284276 chr18 74258734 76115554 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 GALR1,LOC100131655,LOC284276,MBP,ZNF236 chr18 74270404 74272394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284276 chr18 74270529 74270836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284276 chr18 74278870 74323832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74283026 74283026 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 74288034 74321378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74294009 74294109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74296401 74301000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 74298188 74299408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 74303107 74304345 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 74303110 74304328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 74327418 74327518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74332040 76117153 LOH Normal High-resolution SNP genotyping 21211785 GALR1,LOC100131655,MBP,ZNF236 chr18 74335001 74514000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131655 chr18 74362481 74385085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74366930 74380923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74379293 74379828 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 74394582 74397903 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr18 74405083 74405176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 74405085 74405176 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 74405086 74405176 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 74417317 74417407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74461 76025499 Copy number Normal - 22034057 ABHD3,ACAA2,ADCYAP1,AFG3L2,ALPK2,ANKRD12,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ARHGAP28,ASXL3,ATP5A1,ATP8B1,B4GALT6,BCL2,BOD1L2,C18orf1,C18orf21,C18orf25,C18orf26,C18orf32,C18orf34,C18orf42,C18orf54,C18orf56,C18orf61,C18orf62,C18orf63,C18orf8,CABLES1,CABYR,CBLN2,CBX3P2,CCBE1,CCDC102B,CCDC11,CCDC68,CD226,CDH19,CDH2,CDH20,CDH7,CELF4,CEP192,CEP76,CETN1,CHMP1B,CHST9,CHST9-AS1,CIDEA,CLUL1,CNDP1,CNDP2,COLEC12,CPLX4,CTAGE1,CTIF,CXADRP3,CXXC1,CYB5A,CYP4F35P,DCC,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,DOK6,DSC1,DSC2,DSC3,DSEL,DSG1,DSG2,DSG3,DSG4,DTNA,DYM,ELAC1,ELP2,EMILIN2,ENOSF1,EPB41L3,EPG5,ESCO1,FAM210A,FAM59A,FAM69C,FBXO15,FECH,FHOD3,GALNT1,GALR1,GATA6,GNAL,GREB1L,GRP,HAUS1,HDHD2,HMSD,HRH4,IER3IP1,IMPA2,IMPACT,INO80C,KATNAL2,KC6,KCTD1,KDSR,KIAA1328,KIAA1468,KLHL14,L3MBTL4,LAMA1,LAMA3,LINC-ROR,LINC00305,LINC00470,LINC00526,LINC00667,LINC00668,LINC00669,LIPG,LMAN1,LOC100130480,LOC100131655,LOC100192426,LOC100287225,LOC100288122,LOC100505474,LOC100505549,LOC100505776,LOC100505817,LOC100506888,LOC100652770,LOC284260,LOC284276,LOC284294,LOC339298,LOC400654,LOC400655,LOC400657,LOC643542,LOC644669,LOC645355,LOC727896,LOC728606,LOC729950,LOXHD1,LPIN2,LRRC30,MALT1,MAPK4,MAPRE2,MBD1,MBD2,MBP,MC2R,MC4R,MC5R,ME2,MEP1B,METTL4,MEX3C,MIB1,MIR1-2,MIR122,MIR133A1,MIR1539,MIR187,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR3591,MIR3975,MIR3976,MIR4317,MIR4318,MIR4319,MIR4320,MIR4526,MIR4529,MIR4741,MIR4743,MIR4744,MIR5011,MIR5190,MIR5583-1,MIR5583-2,MOCOS,MPPE1,MRO,MYL12A,MYL12B,MYO5B,MYOM1,NAPG,NARS,NDC80,NDUFV2,NEDD4L,NETO1,NOL4,NPC1,OACYLP,ONECUT2,OSBPL1A,PHLPP1,PIAS2,PIEZO2,PIGN,PIK3C3,PMAIP1,POLI,POTEC,PPP4R1,PSMA8,PSMG2,PSTPIP2,PTPN2,PTPRM,RAB12,RAB27B,RAB31,RALBP1,RAX,RBBP8,RIOK3,RIT2,RNF125,RNF138,RNF152,RNF165,RNMT,ROCK1,ROCK1P1,RPL17,RPL17-C18ORF32,RPRD1A,RTTN,SCARNA17,SEC11C,SEH1L,SERPINB10,SERPINB11,SERPINB12,SERPINB13,SERPINB2,SERPINB3,SERPINB4,SERPINB5,SERPINB7,SERPINB8,SETBP1,SIGLEC15,SKA1,SLC14A1,SLC14A2,SLC25A52,SLC39A6,SLMO1,SMAD2,SMAD4,SMAD7,SMCHD1,SNORA37,SNORD58A,SNORD58B,SNORD58C,SNRPD1,SOCS6,SOGA2,SPIRE1,SS18,ST8SIA3,ST8SIA5,STARD6,SYT4,TAF4B,TCEB3B,TCEB3C,TCEB3CL,TCF4,TGIF1,THOC1,TIMM21,TMEM200C,TMEM241,TMX3,TNFRSF11A,TPGS2,TRAPPC8,TSHZ1,TTC39C,TTR,TUBB6,TWSG1,TXNDC2,TXNL1,TYMS,USP14,VAPA,VPS4B,WBP11P1,WDR7,YES1,ZADH2,ZBTB7C,ZCCHC2,ZFP161,ZNF236,ZNF24,ZNF271,ZNF396,ZNF397,ZNF407,ZNF516,ZNF519,ZNF521,ZNF532,ZSCAN30 chr18 74472801 74477400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 74478925 76117153 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 GALR1,LOC100131655,MBP,ZNF236 chr18 74479797 74497358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74483785 74483885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74502533 74525402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100131655 chr18 74514001 74516500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131655 chr18 74514152 74516397 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131655 chr18 74516501 74667500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131655,ZNF236 chr18 74518547 74530754 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100131655 chr18 74525370 74525470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100131655 chr18 74536115 74682682 Deletion Prostate cancer aCGH 22341455 ZNF236 chr18 74617952 74618037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF236 chr18 74631910 74631986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF236 chr18 74638777 74638877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF236 chr18 74658455 74683343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF236 chr18 74667501 75239500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GALR1,MBP,ZNF236 chr18 7467532 7467632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74688060 74734374 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MBP chr1 87469017 87500335 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HS2ST1 chr18 74690788 74844773 Deletion Prostate cancer aCGH 22341455 MBP chr18 74694401 74698200 Deletion Glioma mate-paired sequence 20126413 MBP chr18 74748072 74914475 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 MBP chr18 7475533 7510484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74763477 74767311 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MBP chr18 74763549 74767192 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MBP chr18 74763700 74763702 Loss Normal Birdsuite, version 1.5.2 22087296 MBP chr18 74763700 74765854 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MBP chr18 74763702 74765851 Loss Normal Birdsuite, version 1.5.2 22087296 MBP chr18 74765851 74765854 Loss Normal Birdsuite, version 1.5.2 22087296 MBP chr18 74782564 74815685 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MBP chr18 74804819 74804874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBP chr18 74814315 74814415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBP chr18 74822879 74823272 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 MBP chr18 74834259 74834359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBP chr18 74841262 74859181 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MBP chr18 74841263 74858385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBP chr18 74841263 74859176 Gain and loss Pancreatic cancer SNP array 17952125 MBP chr18 74848406 74848466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74852255 74880286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74872901 74882050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74875865 74877197 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 74879488 74886439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74880497 74880561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74891685 74906441 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 74924052 74924120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 74930385 75239264 Gain and loss Pancreatic cancer SNP array 17952125 GALR1 chr18 74930385 75239266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALR1 chr18 74930385 75239266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALR1 chr18 74962007 74982097 Deletion Prostate cancer aCGH 22341455 GALR1 chr18 75004601 75009100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 75004789 75209184 Loss Autism Exome sequencing and CGH 22495309 NOT_FOUND chr18 75007081 75007181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75008652 75034510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 75021265 76089909 Gain Prostate cancer Array CGH 18632612 NOT_FOUND chr1 87506172 87523271 Gain and loss Pancreatic cancer SNP array 17952125 HS2ST1 chr18 75066906 75067006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75158729 75160076 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 75158735 75159972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75197066 75197166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75207159 75207415 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75207404 75207542 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75216552 75791828 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr18 75227967 75228589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75230187 75230287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75231733 75231833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75239501 75475500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 75240545 75274429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 75256759 75390311 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr18 75256760 75390310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75256760 75390310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75256760 75390310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75264795 75264895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75305722 75305781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75339114 75417876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75349325 75445847 Gain Stenocardia MACArray Karyo 87K BAC-chips 21860640 NOT_FOUND chr18 75349325 75445847 Gain Vasospasm MACArray Karyo 87K BAC-chips 21860640 NOT_FOUND chr18 75361126 75361226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75376800 75377045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75386172 75407699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75409201 75414800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr18 75410930 75413069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75443014 75443303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75462146 75462216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75462992 75482966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 75475501 75725500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 75479132 75491762 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 75490644 75557851 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75490644 75557851 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75492349 75555951 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75492349 75555951 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75492349 75576557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75492349 75576557 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75492349 75579282 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75492349 75579282 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75497201 75555951 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75497201 75555951 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75498985 75499085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75499926 75540733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75499926 75540733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75502974 75540604 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75503947 75504009 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75506854 75555951 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75506854 75555951 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr18 75509526 75509866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75511317 75607690 Gain Stenocardia MACArray Karyo 86K BAC-chips 21860640 NOT_FOUND chr18 75511317 75607690 Gain Vasospasm MACArray Karyo 86K BAC-chips 21860640 NOT_FOUND chr18 75540788 75615495 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr18 75540789 75615489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75540789 75615495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75540789 75615495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75551903 75740573 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr18 75555208 75555395 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 7556341 7556430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75565158 76115554 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr18 7557313 8396859 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 LOC100192426,PTPRM chr18 75574596 75574696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 7557817 8396854 Gain and loss Pancreatic cancer SNP array 17952125 LOC100192426,PTPRM chr18 7557817 8396859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100192426,PTPRM chr18 75600833 75601179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75604004 75634660 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 87563799 87563899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS2ST1 chr18 75641129 75641338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75641129 75641443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75641247 75641332 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr18 75657193 75690224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 87566739 87587021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HS2ST1 chr1 87566739 87587021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HS2ST1 chr18 75719745 75721005 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 75724656 75760804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75724656 75760804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75724656 75760804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75725501 75739500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 75739501 75744500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 7574294 7599137 Indels Normal Affymetrix and Illumina arrays 20811451 PTPRM chr18 75744501 75749500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 75746093 75779459 Duplication, deletion Oligozoospermia Array-CGH 20877625 NOT_FOUND chr18 75749359 75749514 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75759001 75761500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 75761501 75766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 75763409 75812018 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75763409 75812605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75763454 75805312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75763454 75805312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75763474 75812605 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr18 75766001 76117153 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 75795156 76115554 Loss Developmental delay affymetrix genechip 500K/SNP 6.78 array 21147756 NOT_FOUND chr18 75796373 76117153 Deletion Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr18 75805832 75805832 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr18 75833857 75849520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75833857 75849520 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75833857 75849520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75834458 75834558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75846270 75846477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75846475 75846575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75846529 75846629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75851818 76106200 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 NOT_FOUND chr18 75873835 75874053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75873835 75874053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75885928 75885976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75893961 75894012 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 75895345 75954776 Amplification or deletion Normal BAC aCGH 22315515 NOT_FOUND chr18 75895346 75907373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75895346 75907373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75895346 75907375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75952200 75952279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 75956499 75957875 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr18 75967902 75999219 Amplification or deletion Normal BAC aCGH 22315515 NOT_FOUND chr18 75967903 75999217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75967903 75999217 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 75967903 75999217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 75996039 75996139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 87599665 87599743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339524 chr18 75999552 76076229 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr18 75999838 76106388 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 76015391 76116029 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 76016114 76106388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 76016114 76106388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 8760421 8793956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RERE chr18 76043645 76043745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 76056369 76115554 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr1 8760683 8760761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RERE chr1 87610610 87634021 Duplication Non-syndromic sensorineural hearing loss References 19212409 LOC339524 chr18 7616313 7616345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRM chr18 76180327 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 87618530 87618630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339524 chr18 76209057 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 76239997 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 87630966 87631077 Gain and loss Pancreatic cancer SNP array 17952125 LOC339524 chr1 87630988 87631077 Gain and loss Pancreatic cancer SNP array 17952125 LOC339524 chr18 76330401 76117153 Deletion Glioma mate-paired sequence 20126413 chr18 76343801 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 76363981 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 76364928 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 76403628 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 76443043 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 76494448 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 87653000 87681000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr18 7657575 8617957 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100192426,PTPRM,RAB12 chr18 76584585 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 87661249 87661349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 76685214 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 76772257 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 7678124 7678826 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PTPRM chr18 767917 793578 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 YES1 chr1 8768849 8769581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr1 87691536 87691644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 77005515 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 77098217 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 77144627 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 77205928 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 7722903 7723003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRM chr18 77258746 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 77266608 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 87727887 87727987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 7728109 7728223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRM chr18 77292558 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 772973 793578 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 YES1 chr18 77298725 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 7730473 7750682 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 PTPRM chr1 87732163 87732263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 87733442 87733521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 77373334 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 77551384 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 77560099 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 87767817 87812606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LMO4 chr18 77865407 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr18 77866866 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 8779217 8779318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr1 8779220 8779313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr18 7795292 8259460 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 PTPRM chr18 77996723 76117153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr1 8780528 8780942 Gain and loss Pancreatic cancer SNP array 17952125 RERE chr1 8781121 8782152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr1 87819720 87819825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100505768 chr18 7858023 7858289 Gain and loss Pancreatic cancer SNP array 17952125 PTPRM chr18 786983 787083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YES1 chr18 787990 788136 Gain and loss Pancreatic cancer SNP array 17952125 YES1 chr18 787990 788136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YES1 chr18 7899701 7899756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRM chr1 8790899 8790992 Gain and loss Pancreatic cancer SNP array 17952125 RERE chr18 7937208 7969930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRM chr18 7985568 7985782 Gain and loss Pancreatic cancer SNP array 17952125 PTPRM chr18 7985568 7985782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRM chr18 7985568 7985783 Gain and loss Pancreatic cancer SNP array 17952125 PTPRM chr18 7986996 7987081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRM chr1 87998089 87998189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 88034518 88034603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 88058429 88058582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 8062281 8096349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRM chr18 806736 806836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YES1 chr18 8074404 8074504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRM chr1 88080452 88080497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 88100000 107000000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 ABCA4,ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,BARHL2,BCAR3,BRDT,BTBD8,C1orf146,CCBL2,CCDC18,CDC14A,CDC7,CNN3,COL11A1,DBT,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,EPHX4,EVI5,EXTL2,F3,FAM69A,FLJ27354,FLJ31662,FNBP1L,FRRS1,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GLMN,GPR88,GTF2B,HFM1,HIAT1,HSP90B3P,KIAA1107,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC729970,LOC729987,LPPR4,LPPR5,LRRC39,LRRC8B,LRRC8C,LRRC8D,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,MIR760,MTF2,OLFM3,PALMD,PKN2,PTBP2,RBMXL1,RNPC3,RNU6-6,RPAP2,RPL5,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNORA66,SNORD21,SNX7,TGFBR3,TMED5,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1,ZNF326,ZNF644 chr1 88100000 92000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BARHL2,CCBL2,CDC7,FLJ27354,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GEMIN8P4,GTF2B,HFM1,LRRC8B,LRRC8C,LRRC8D,PKN2,RBMXL1,ZNF326,ZNF644 chr1 88100000 92000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BARHL2,CCBL2,CDC7,FLJ27354,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GEMIN8P4,GTF2B,HFM1,LRRC8B,LRRC8C,LRRC8D,PKN2,RBMXL1,ZNF326,ZNF644 chr1 88100000 92000000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 BARHL2,CCBL2,CDC7,FLJ27354,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GEMIN8P4,GTF2B,HFM1,LRRC8B,LRRC8C,LRRC8D,PKN2,RBMXL1,ZNF326,ZNF644 chr18 8106245 8106342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRM chr1 8813760 8814018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr18 8154282 8154314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRM chr18 818473 818795 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 8216482 8216582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRM chr18 8217101 8217183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRM chr1 88219246 88219336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8822507 8850906 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RERE chr18 8259460 15467716 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AFG3L2,ANKRD12,ANKRD20A5P,ANKRD30B,APCDD1,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,CXADRP3,CYP4F35P,FAM210A,GNAL,IMPA2,LOC100192426,LOC100288122,LOC644669,MC2R,MC5R,MIR3156-2,MIR4526,MIR5190,MPPE1,NAPG,NDUFV2,PIEZO2,POTEC,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SOGA2,SPIRE1,TUBB6,TWSG1,TXNDC2,VAPA,ZNF519 chr18 8265282 8265374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRM chr18 826717 827665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 88274001 88276000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 8827607 9117768 Duplication Normal Affymetrix 6.0 microarrays 20967226 CA6,ENO1,ENO1-AS1,RERE,SLC2A5,SLC2A7 chr18 8287998 9687041 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD12,LOC100192426,NDUFV2,PPP4R1,PTPRM,RAB12,RALBP1,SOGA2,TWSG1 chr1 88291885 88292292 Deletion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr18 8362040 8362370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100192426,PTPRM chr1 88424574 89529302 LOH Normal High-resolution SNP genotyping 21211785 CCBL2,GBP1,GBP3,GTF2B,PKN2,RBMXL1 chr1 8843649 8861367 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 RERE chr1 8843650 8861367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RERE chr1 8843650 8861367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr1 88444846 90083009 LOH Normal High-resolution SNP genotyping 21211785 CCBL2,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GTF2B,LRRC8B,PKN2,RBMXL1 chr18 8453361 8453461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 88453 758644 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,OR4F16,OR4F29,OR4F3 chr18 8456207 8456246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 8461829 8462124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 8461829 8462126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 8461829 8462126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 8500000 10900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD12,APCDD1,NAPG,NDUFV2,PIEZO2,PPP4R1,RAB12,RAB31,RALBP1,SOGA2,TWSG1,TXNDC2,VAPA chr18 8500000 10900000 Copy number Normal - 21701786 ANKRD12,APCDD1,NAPG,NDUFV2,PIEZO2,PPP4R1,RAB12,RAB31,RALBP1,SOGA2,TWSG1,TXNDC2,VAPA chr18 8500000 10900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD12,APCDD1,NAPG,NDUFV2,PIEZO2,PPP4R1,RAB12,RAB31,RALBP1,SOGA2,TWSG1,TXNDC2,VAPA chr18 8535635 8536757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 8855329 8990392 Gain and loss Pancreatic cancer SNP array 17952125 ENO1,ENO1-AS1,RERE chr18 8564901 8565972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 885830 890958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOC2L chr1 885830 890958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOC2L chr18 858312 878328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 8597081 8597113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 8599443 8629380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB12 chr18 8599443 8629380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB12 chr18 8599834 8600062 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr18 8599867 8629379 Gain and loss Pancreatic cancer SNP array 17952125 RAB12 chr1 8860501 8861500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RERE chr18 8608182 8653130 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB12 chr18 8612920 8613020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB12 chr18 8624166 8624275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAB12 chr18 8637766 8641532 Gain and loss Pancreatic cancer SNP array 17952125 RAB12 chr1 88646136 88646186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 88655532 88655822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 88657857 88657902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 88659841 88693403 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 8866073 8866179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr1 88671630 88695172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 88674120 88674220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8867740 10433514 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 C1orf200,CA6,CLSTN1,CTNNBIP1,ENO1,ENO1-AS1,GPR157,H6PD,KIF1B,LZIC,MIR34A,NMNAT1,PIK3CD,RBP7,RERE,SLC25A33,SLC2A5,SLC2A7,SPSB1,TMEM201,UBE4B chr1 88679026 88686610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr18 8696513 8822776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOGA2 chr18 8696513 8822776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOGA2 chr18 8707369 8822775 Gain and loss Pancreatic cancer SNP array 17952125 SOGA2 chr18 8710035 8710130 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 8710035 8710130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 88716099 88716389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 88716102 88716385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 88736628 88736947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 88739275 88739375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 8742836 8742936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOGA2 chr18 8743143 8743236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOGA2 chr1 8876065 8876490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RERE chr1 8876065 8876490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RERE chr1 8877743 8877872 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 8877752 8877854 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 8785400 8785459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOGA2 chr18 8796192 8807441 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SOGA2 chr18 8801579 8801655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOGA2 chr18 8806259 8806359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOGA2 chr1 88807314 88807414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 8808908 8809008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOGA2 chr1 88816151 88816472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 88818315 88818415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 88862277 89011443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 88866327 89995988 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCBL2,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GTF2B,LRRC8B,PKN2,RBMXL1 chr1 88867107 88867928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 8871620 8871693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 8887834 8888106 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 8890093 8890390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 89115825 89123587 Amplification Adenocarcinoma FISH 19001599 NOT_FOUND chr18 89115825 89123587 Amplification Non-small cell lung cancer FISH 19001599 NOT_FOUND chr18 89115825 89123587 Amplification Squamous cell cancer FISH 19001599 NOT_FOUND chr18 8912412 9528533 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD12,NDUFV2,RALBP1,TWSG1 chr1 88922493 89074526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 88922493 89074526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 8892406 8892552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 895001 898500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 895061 902173 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr18 895061 902173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 895061 902173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 895258 895358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 895387 901048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 8954794 12918541 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AFG3L2,ANKRD12,APCDD1,C18orf61,CEP76,CHMP1B,CIDEA,GNAL,IMPA2,MPPE1,NAPG,NDUFV2,PIEZO2,PPP4R1,PSMG2,PTPN2,RAB31,RALBP1,SLMO1,SPIRE1,TUBB6,TWSG1,TXNDC2,VAPA chr1 88968668 88968742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 8985701 8985850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 88994483 88994589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 9010247 9010765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 9026084 9026372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 9030000 13810000 Loss Acute lymphoblastic leukemia - 21339820 AFG3L2,ANKRD12,APCDD1,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,FAM210A,GNAL,IMPA2,LOC100288122,MIR4526,MIR5190,MPPE1,NAPG,NDUFV2,PIEZO2,PPP4R1,PSMG2,PTPN2,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SPIRE1,TUBB6,TWSG1,TXNDC2,VAPA chr1 89030638 89069268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 904962 905047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCYAP1 chr1 8905362 8905452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 89055050 89055156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 89067373 89067690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 89083272 89083363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 89090909 89129889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 89090909 89129889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 9092718 9124336 Gain and loss Pancreatic cancer SNP array 17952125 NDUFV2 chr18 9092725 9124343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFV2 chr1 89113484 89170484 Gain and loss Pancreatic cancer SNP array 17952125 PKN2 chr1 89124089 89272744 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 PKN2 chr1 89124089 89272744 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PKN2 chr18 912499 912579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr18 9126757 9275206 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ANKRD12,NDUFV2 chr18 9126758 9275206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD12,NDUFV2 chr18 9126758 9275206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD12,NDUFV2 chr18 9126801 9273757 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD12,NDUFV2 chr1 89161641 89162115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 89174044 89231224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 89174044 89231224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 891740 900339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHL17,NOC2L chr1 891740 900339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL17,NOC2L chr1 89184392 89200565 Gain and loss Pancreatic cancer SNP array 17952125 PKN2 chr1 89197951 89198068 Gain and loss Pancreatic cancer SNP array 17952125 PKN2 chr1 89197952 89198069 Gain and loss Pancreatic cancer SNP array 17952125 PKN2 chr1 8921062 8938779 Deletion Prostate cancer aCGH 22341455 ENO1 chr18 9215119 9215453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD12 chr1 89218349 89218381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKN2 chr1 89218710 89231104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 89218710 89231104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 89224872 89232196 Loss Normal 244K array 17666407 PKN2 chr1 89230026 89242912 Gain and loss Pancreatic cancer SNP array 17952125 PKN2 chr18 9234763 9234863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD12 chr18 9237631 9269825 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD12 chr18 9239647 9239744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD12 chr18 9239648 9239743 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD12 chr18 9239649 9239744 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD12 chr18 9240108 9240207 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD12 chr18 9240108 9240209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD12 chr1 89244948 89261137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 89244948 89261137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 89246501 89252700 Deletion Glioma mate-paired sequence 20126413 PKN2 chr1 89248497 89251212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKN2 chr1 89248672 89251662 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PKN2 chr1 89249007 89251114 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PKN2 chr1 89249015 89262858 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PKN2 chr1 89258517 89258636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr18 9267705 9267816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD12 chr18 9267977 9268075 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD12 chr18 9267977 9268075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD12 chr1 89281989 89282471 Gain and loss Pancreatic cancer SNP array 17952125 PKN2 chr1 89283864 89353744 Gain and loss Pancreatic cancer SNP array 17952125 GTF2B,PKN2 chr1 8928509 8957733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENO1,ENO1-AS1 chr1 8928509 8957733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENO1,ENO1-AS1 chr18 9287814 9288228 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 89290593 89303479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 89290593 89303479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN2 chr1 89297241 89297625 Loss Autism 1M Ailent CGH whole-genome array 21865298 PKN2 chr18 9314173 9317288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 9324851 9392384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TWSG1 chr18 9324851 9392384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TWSG1 chr18 9324851 9392412 Gain and loss Pancreatic cancer SNP array 17952125 TWSG1 chr1 89342556 89343038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2B chr1 89345898 89364387 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GTF2B chr1 89345898 89364387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2B chr1 89345898 89364387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2B chr18 9350863 14195995 Loss Developmental delay affymetrix genechip 500K/SNP 6.75 array 21147756 AFG3L2,ANKRD20A5P,APCDD1,C18orf1,C18orf61,CEP192,CEP76,CHMP1B,CIDEA,FAM210A,GNAL,IMPA2,LOC100288122,MC2R,MC5R,MIR4526,MIR5190,MPPE1,NAPG,PIEZO2,PPP4R1,PSMG2,PTPN2,RAB31,RALBP1,RNMT,SEH1L,SLMO1,SPIRE1,TUBB6,TWSG1,TXNDC2,VAPA,ZNF519 chr1 89353284 92234241 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BARHL2,CCBL2,CDC7,FLJ27354,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GEMIN8P4,GTF2B,HFM1,HSP90B3P,LRRC8B,LRRC8C,LRRC8D,RBMXL1,TGFBR3,ZNF326,ZNF644 chr1 89359481 89376583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 89370021 89414311 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CCBL2 chr1 89370022 89414311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCBL2 chr1 89370022 89414311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCBL2 chr1 89370022 89414311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCBL2 chr18 9375392 9375715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TWSG1 chr1 8938004 8941923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENO1,ENO1-AS1 chr1 8940206 8969412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 89403932 89403984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBL2 chr18 9417294 9577506 Copy number Lung cancer paired-end sequencing 18438408 PPP4R1,RALBP1 chr1 89420044 89437150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCBL2 chr1 89420044 89437150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCBL2 chr1 89420048 89437150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCBL2 chr1 89421523 89421623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBL2 chr1 89438408 89450508 Gain and loss Pancreatic cancer SNP array 17952125 CCBL2,RBMXL1 chr18 9464501 9466000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr18 9465006 9528106 Gain or loss Breast cancer - 20668451 RALBP1 chr18 9465006 9528106 Gain or loss Cancer - 20668451 RALBP1 chr18 9465006 9528106 Gain or loss Lung cancer - 20668451 RALBP1 chr18 9465006 9528106 Gain or loss Ovarian cancer - 20668451 RALBP1 chr18 9465006 9528106 Gain or loss Pancreas cancer - 20668451 RALBP1 chr18 9465006 9528106 Gain or loss Prostate cancer - 20668451 RALBP1 chr18 9465007 9528112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RALBP1 chr18 9465007 9528112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALBP1 chr18 9465530 9528105 Gain and loss Pancreatic cancer SNP array 17952125 RALBP1 chr1 89466939 89467039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 89472197 89558103 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 GBP1,GBP3 chr18 9474816 9474881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 89498852 89511132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 89498852 89511132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 9508121 9508211 Gain and loss Pancreatic cancer SNP array 17952125 RALBP1 chr18 9508121 9508211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALBP1 chr1 89527947 89528608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBP1 chr18 953417 13276855 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1120K arrays 21546498 AFG3L2,ANKRD12,APCDD1,ARHGAP28,C18orf1,C18orf42,C18orf61,CBX3P2,CEP192,CEP76,CHMP1B,CIDEA,DLGAP1,DLGAP1-AS1,DLGAP1-AS3,DLGAP1-AS5,EMILIN2,EPB41L3,GNAL,IMPA2,L3MBTL4,LAMA1,LINC00470,LINC00526,LINC00667,LINC00668,LOC100130480,LOC100192426,LOC645355,LOC727896,LPIN2,LRRC30,METTL4,MIR3976,MIR4317,MPPE1,MYL12A,MYL12B,MYOM1,NAPG,NDC80,NDUFV2,PIEZO2,PPP4R1,PSMG2,PTPN2,PTPRM,RAB12,RAB31,RALBP1,SEH1L,SLMO1,SMCHD1,SOGA2,SPIRE1,TGIF1,TMEM200C,TUBB6,TWSG1,TXNDC2,VAPA,ZFP161 chr18 9536789 9604606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP4R1,RALBP1 chr18 9536789 9604606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R1,RALBP1 chr18 9536843 9604556 Gain and loss Pancreatic cancer SNP array 17952125 PPP4R1,RALBP1 chr1 89541638 89564040 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 89562793 89573151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 9573137 9573937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP4R1 chr1 895736 896179 Gain and loss Pancreatic cancer SNP array 17952125 KLHL17 chr1 89584006 89584870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GBP2 chr18 95896 98177 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 9591664 33064764 Copy number Lung cancer paired-end sequencing 18438408 ABHD3,AFG3L2,ANKRD20A5P,ANKRD29,ANKRD30B,APCDD1,AQP4,ASXL3,B4GALT6,C18orf1,C18orf34,C18orf61,C18orf8,CABLES1,CABYR,CDH2,CEP192,CEP76,CHMP1B,CHST9,CHST9-AS1,CIDEA,CTAGE1,CXADRP3,CYP4F35P,DSC1,DSC2,DSC3,DSG1,DSG2,DSG3,DSG4,DTNA,ESCO1,FAM210A,FAM59A,GATA6,GNAL,GREB1L,HRH4,IMPA2,IMPACT,INO80C,KCTD1,KLHL14,LAMA3,LOC100288122,LOC100652770,LOC644669,LOC728606,LOC729950,MAPRE2,MC2R,MC5R,MEP1B,MIB1,MIR1-2,MIR133A1,MIR302F,MIR3156-2,MIR320C1,MIR320C2,MIR4526,MIR4741,MIR5190,MPPE1,NAPG,NOL4,NPC1,OSBPL1A,PIEZO2,POTEC,PPP4R1,PSMA8,PSMG2,PTPN2,RAB31,RBBP8,RIOK3,RNF125,RNF138,RNMT,ROCK1,SEH1L,SLC25A52,SLMO1,SNRPD1,SPIRE1,SS18,TAF4B,TMEM241,TRAPPC8,TTC39C,TTR,TUBB6,TXNDC2,VAPA,WBP11P1,ZNF24,ZNF271,ZNF396,ZNF397,ZNF519,ZNF521,ZSCAN30 chr1 89600000 92900000 Deletion Lung cancer aCGH 21911935 BARHL2,BRDT,BTBD8,C1orf146,CDC7,EPHX4,FLJ27354,GBP1P1,GBP4,GBP5,GBP6,GBP7,GEMIN8P4,GLMN,HFM1,HSP90B3P,KIAA1107,LRRC8B,LRRC8C,LRRC8D,RPAP2,TGFBR3,ZNF326,ZNF644 chr1 89602023 89626307 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 GBP7 chr1 89602024 89626307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GBP7 chr1 89602024 89626307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBP7 chr18 9607962 9608070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R1 chr18 9607985 9608070 Gain and loss Pancreatic cancer SNP array 17952125 PPP4R1 chr18 9611930 9612234 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP4R1 chr1 89612473 89612573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBP7 chr18 9616587 9616656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 8962224 8962520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 96252 97137 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 89632168 89632813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBP7 chr1 89648466 89664390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBP4 chr18 96501 102750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 89658427 89658527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBP4 chr1 89662778 89662810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBP4 chr18 9668444 9669402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 96712 97391 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 8968001 9227500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CA6,GPR157,MIR34A,SLC2A5,SLC2A7 chr18 9698227 9852553 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RAB31 chr18 9698265 9852547 Gain and loss Pancreatic cancer SNP array 17952125 RAB31 chr18 97076 98232 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 9711926 9712019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB31 chr18 97163 98932 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 97280 98232 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 8973901 8974199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 9745089 9745174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB31 chr1 89745825 89771236 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 97605 98694 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 89763042 89831803 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 GBP6 chr1 89763050 89836011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GBP6 chr1 89763050 89836011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBP6 chr18 9764874 9852547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB31 chr18 9764874 9852547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB31 chr18 97724 98812 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 97826 98777 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 9783054 9783154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB31 chr18 9805288 9806127 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAB31 chr1 89810728 89892733 Gain and loss Pancreatic cancer SNP array 17952125 GBP1P1,GBP6 chr18 98133 99151 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 9820327 9820624 Gain and loss Pancreatic cancer SNP array 17952125 RAB31 chr18 9820327 9820624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB31 chr18 9820329 9820624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB31 chr18 9830563 10762376 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APCDD1,NAPG,PIEZO2,RAB31,TXNDC2,VAPA chr18 9834757 9834826 Gain and loss Pancreatic cancer SNP array 17952125 RAB31 chr18 9834757 9834826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB31 chr18 98503 99525 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr18 98594 100093 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 8985946 9008991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CA6 chr1 8985946 9008991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA6 chr18 9867536 9867907 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 89871242 89953300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GBP1P1 chr1 89871242 89953300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBP1P1 chr18 9875723 9878150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 9875723 9878150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 9875802 9878150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 89899358 89899604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr18 9903954 9950018 Copy number colon cancer References 22000013 VAPA chr18 9903955 9950018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VAPA chr18 9903955 9950018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAPA chr18 9903984 9949571 Gain and loss Pancreatic cancer SNP array 17952125 VAPA chr18 99065 112217 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ROCK1P1 chr18 99065 112217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ROCK1P1 chr18 99065 112217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROCK1P1 chr18 9908025 9951206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VAPA chr18 991011 1010379 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr18 9913251 9913345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr18 9913916 9913999 Gain and loss Pancreatic cancer SNP array 17952125 VAPA chr18 9913916 9913999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAPA chr18 9913917 9914018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAPA chr18 99426 99971 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 89945795 89945898 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr18 9956136 9956272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAPA chr18 9972501 10714500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APCDD1,NAPG,PIEZO2 chr1 8997625 9020670 Gain and loss Pancreatic cancer SNP array 17952125 CA6 chr18 9987876 9987931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 89998625 90113580 Gain and loss Pancreatic cancer SNP array 17952125 FLJ27354,LRRC8B,LRRC8C chr1 90006362 90006465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC8B chr1 90014502 90014559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRC8B chr1 90019778 90019878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC8B chr1 900447 907336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHL17,PLEKHN1 chr1 900447 907336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL17,PLEKHN1 chr1 90048873 90048958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC8B chr1 90059192 90174147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ27354,LRRC8B,LRRC8C chr1 90059192 90174147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ27354,LRRC8B,LRRC8C chr1 90067010 90112162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLJ27354,LRRC8C chr1 90067018 90088996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 90072991 90073075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 90088503 90088603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 0 0 Gain Cervical cancer array CGH 21063398 NOT_FOUND chr1 901127 906308 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHN1 chr1 90123412 90164081 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LRRC8C chr1 90158143 90203035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRC8C chr1 90171173 90171538 Gain and loss Pancreatic cancer SNP array 17952125 LRRC8C chr1 90172692 90205802 Gain and loss Pancreatic cancer SNP array 17952125 LRRC8C chr1 90194872 90194972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 9019594 9052257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CA6 chr1 9019594 9052257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA6 chr1 90230310 90266685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 90230310 90266685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 90231740 90232468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 90231740 90232468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 902529 3454889 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ACAP3,ACTRT2,AGRN,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,LOC100129534,LOC100133445,LOC115110,LOC148413,LOC254099,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,PANK4,PEX10,PLCH2,PLEKHN1,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TTC34,TTLL10,UBE2J2,VWA1 chr1 90260790 90260884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 90308443 90308543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC8D chr1 90309931 90309990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC8D chr1 9031273 9063936 Gain and loss Pancreatic cancer SNP array 17952125 CA6,SLC2A7 chr1 90330403 90330503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC8D chr1 90344207 90344341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC8D chr1 90370574 90370688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC8D chr1 90431037 90431138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 9046321 9046640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 90472839 90472939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF326 chr1 90483825 90786224 Duplication Intellectual disability Array CGH 22102821 ZNF326 chr1 90491602 90491705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF326 chr1 90532013 90695320 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 90532013 90695320 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr1 9064422 9064457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC2A7 chr1 9065342 9065525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A7 chr1 907501 946500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf170,HES4,PLEKHN1 chr1 9077021 9077204 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A7 chr1 90827300 90827400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 90834876 90834976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 90835328 90835541 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 90835328 90835542 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 9086668 9111837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC2A5 chr1 9086668 9111837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC2A5 chr1 90883639 90883739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 90889606 90894815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 90895895 90896108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 90944501 90965500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 90950167 90955382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 90950167 90955382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 90965637 91031704 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 90977771 90977851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 90999035 91031704 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 10009369 10045811 Gain and loss Pancreatic cancer SNP array 17952125 OLFM2 chr19 10013032 10045811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLFM2 chr19 10013032 10045811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLFM2 chr19 10035445 10069078 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OLFM2 chr19 10053362 10064927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 10053362 10064927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 10057971 10064927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 10064015 10074472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 10064015 10074472 Gain and loss Pancreatic cancer SNP array 17952125 COL5A3 chr19 10064015 10074472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 100754 1011363 Substitutions and indels small cell lung cancer array-CGH 20016488 ARID3A,AZU1,BSG,C19orf21,C19orf6,C2CD4C,CDC34,CFD,ELANE,FGF22,FLJ45445,FSTL3,GRIN3B,GZMM,HCN2,KISS1R,LPPR3,MADCAM1,MED16,MIER2,MIR3187,MIR4745,ODF3L2,OR4F17,PALM,POLRMT,PPAP2C,PRSS57,PRTN3,PTBP1,R3HDM4,RNF126,SHC2,THEG,TPGS1,WDR18 chr19 10077965 10082975 Gain and loss Pancreatic cancer SNP array 17952125 COL5A3 chr19 10078044 10082970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 10078071 10086414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 10078071 10086414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 10079327 10079411 Gain and loss Pancreatic cancer SNP array 17952125 COL5A3 chr19 10079327 10079411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr1 91008031 91031704 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 10083197 10087065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 10083197 10087065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 10083398 10087062 Gain and loss Pancreatic cancer SNP array 17952125 COL5A3 chr19 10086690 10091599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 10086690 10091599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL5A3 chr19 10086691 10091585 Gain and loss Pancreatic cancer SNP array 17952125 COL5A3 chr19 10105021 10166811 Gain or loss Breast cancer - 20668451 C3P1,COL5A3,RDH8 chr19 10105021 10166811 Gain or loss Cancer - 20668451 C3P1,COL5A3,RDH8 chr19 10105021 10166811 Gain or loss Lung cancer - 20668451 C3P1,COL5A3,RDH8 chr19 10105021 10166811 Gain or loss Ovarian cancer - 20668451 C3P1,COL5A3,RDH8 chr19 10105021 10166811 Gain or loss Pancreas cancer - 20668451 C3P1,COL5A3,RDH8 chr19 10105021 10166811 Gain or loss Prostate cancer - 20668451 C3P1,COL5A3,RDH8 chr19 10105023 10166811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3P1,COL5A3,RDH8 chr19 10105023 10166811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3P1,COL5A3,RDH8 chr19 10105030 10166811 Gain and loss Pancreatic cancer SNP array 17952125 C3P1,COL5A3,RDH8 chr19 10119147 10119232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL5A3 chr1 91014739 91066075 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr1 91014739 91066075 Gain or loss Breast cancer - 20668451 NOT_FOUND chr1 91014739 91066075 Gain or loss Cancer - 20668451 NOT_FOUND chr1 91014739 91066075 Gain or loss Lung cancer - 20668451 NOT_FOUND chr1 91014739 91066075 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr1 91014739 91066075 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr1 91014739 91066075 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 10161930 10346581 Gain Normal Birdsuite, version 1.5.2 22087296 ANGPTL6,C19orf66,C3P1,DNMT1,EIF3G,MIR4322,P2RY11,PPAN,PPAN-P2RY11,S1PR2,SNORD105,SNORD105B chr19 1016727 8904075 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCA7,ACER1,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANKRD24,AP3D1,APBA3,APC2,ARHGEF18,ARRDC5,ATCAY,ATP5D,ATP8B3,BTBD2,C19orf10,C19orf24,C19orf25,C19orf26,C19orf35,C19orf45,C19orf59,C19orf6,C19orf70,C19orf71,C19orf77,C3,CACTIN,CACTIN-AS1,CAMSAP3,CAPS,CATSPERD,CCDC94,CCL25,CD209,CD320,CD70,CELF5,CERS4,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELAVL1,EMR1,EMR4P,EVI5L,FAM108A1,FBN3,FCER2,FEM1A,FLJ22184,FLJ25758,FSD1,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GTF2F1,HDGFRP2,HMG20B,HMHA1,HNRNPM,HSD11B1L,INSR,IZUMO4,JSRP1,KANK3,KDM4B,KHSRP,KLF16,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC388499,LONP1,LRG1,LRRC8E,LSM7,MAP2K2,MAP2K7,MARCH2,MATK,MBD3,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MEX3D,MFSD12,MIDN,MIR1227,MIR1909,MIR3940,MIR4321,MIR4746,MIR4747,MIR4999,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,MYO1F,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ONECUT3,OR2Z1,PCP2,PCSK4,PET100,PEX11G,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,PRAM1,PRR22,PSPN,PTPRS,RAB11B,RAB11B-AS1,RANBP3,RAX2,REEP6,RETN,REXO1,RFX2,RPL36,RPS15,RPS28,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNAPC2,SNORD37,SPPL2B,STAP2,STK11,STXBP2,TBXA2R,TCF3,TGFBR3L,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TRAPPC5,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,XAB2,ZBTB7A,ZFR2,ZNF358,ZNF414,ZNF554,ZNF555,ZNF556,ZNF557,ZNF57,ZNF77,ZNRF4 chr19 1018174 1037627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf6,CNN2 chr19 1018174 1037627 Gain and loss Pancreatic cancer SNP array 17952125 C19orf6,CNN2 chr19 1018174 1037627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf6,CNN2 chr19 10190000 12000000 Gain Breast cancer aCGH 21509527 ACP5,ANGPTL6,AP1M2,ATG4D,C19orf38,C19orf52,C19orf66,C19orf80,CARM1,CCDC151,CCDC159,CDC37,CDKN2D,CNN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL3,ELOF1,EPOR,FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,KANK2,KEAP1,KRI1,LDLR,LPPR2,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR638,MRPL4,P2RY11,PDE4A,PPAN,PPAN-P2RY11,PRKCSH,QTRT1,RAB3D,RAVER1,RGL3,S1PR2,S1PR5,SLC44A2,SMARCA4,SNORD105,SNORD105B,SPC24,SWSAP1,TMED1,TMEM205,TSPAN16,TYK2,YIPF2,ZGLP1,ZNF439,ZNF440,ZNF441,ZNF491,ZNF627,ZNF653,ZNF69,ZNF823,ZNF833P chr19 10193108 10202948 Gain or loss Breast cancer - 20668451 C19orf66 chr19 10193108 10202948 Gain or loss Cancer - 20668451 C19orf66 chr19 10193108 10202948 Gain or loss Lung cancer - 20668451 C19orf66 chr19 10193108 10202948 Gain or loss Ovarian cancer - 20668451 C19orf66 chr19 10193108 10202948 Gain or loss Pancreas cancer - 20668451 C19orf66 chr19 10193108 10202948 Gain or loss Prostate cancer - 20668451 C19orf66 chr19 10193109 10202948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf66 chr19 10193109 10202948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf66 chr19 10195520 10202929 Gain and loss Pancreatic cancer SNP array 17952125 C19orf66 chr19 10220818 10220918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPAN,PPAN-P2RY11 chr19 10223640 10231719 Gain and loss Pancreatic cancer SNP array 17952125 EIF3G,P2RY11,PPAN-P2RY11 chr19 10223640 10231736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3G,P2RY11,PPAN-P2RY11 chr19 10223640 10231736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3G,P2RY11,PPAN-P2RY11 chr19 10225277 10225361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 P2RY11,PPAN-P2RY11 chr19 10231490 10698677 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AP1M2,ATG4D,CDC37,CDKN2D,DNMT1,FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,KEAP1,KRI1,MIR1181,MIR1238,MIR4322,MRPL4,PDE4A,RAVER1,S1PR2,S1PR5,TYK2,ZGLP1 chr19 10242765 10258291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10242765 10258291 Gain and loss Pancreatic cancer SNP array 17952125 DNMT1 chr19 10242765 10258291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10258501 10268000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNMT1 chr19 10258650 10260198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10258650 10260198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10258686 10260198 Gain and loss Pancreatic cancer SNP array 17952125 DNMT1 chr19 10261655 10268453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10261655 10268453 Gain and loss Pancreatic cancer SNP array 17952125 DNMT1 chr19 10261655 10268453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10268001 10305000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNMT1 chr19 10276479 10281556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10276479 10281556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10281891 10287691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10281891 10287691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10282248 10287682 Gain and loss Pancreatic cancer SNP array 17952125 DNMT1 chr19 10287891 10305202 Gain and loss Pancreatic cancer SNP array 17952125 DNMT1 chr19 10287895 10305314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10287895 10305314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10291150 13749674 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 ACP5,AP1M2,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf52,C19orf80,CACNA1A,CALR,CARM1,CCDC151,CCDC159,CDC37,CDKN2D,CNN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,ELAVL3,ELOF1,EPOR,FARSA,FBXW9,FDX1L,GADD45GIP1,GCDH,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,JUNB,KANK2,KEAP1,KLF1,KRI1,LDLR,LPPR2,LYL1,MAN2B1,MAST1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR638,MRPL4,NACC1,NFIX,PDE4A,PRDX2,PRKCSH,QTRT1,RAB3D,RAD23A,RAVER1,RGL3,RNASEH2A,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNORD41,SPC24,STX10,SWSAP1,SYCE2,TMED1,TMEM205,TNPO2,TRMT1,TSPAN16,TYK2,WDR83,WDR83OS,YIPF2,ZGLP1,ZNF136,ZNF20,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF823,ZNF833P,ZNF844,ZNF878 chr19 10305001 10306500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNMT1 chr19 10305454 10311337 Gain and loss Pancreatic cancer SNP array 17952125 DNMT1 chr19 10305455 10311344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10305455 10311344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT1 chr19 10306501 10390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ICAM1,MIR4322,MRPL4,S1PR2 chr19 10312307 10344873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4322,S1PR2 chr19 10322203 10352248 Copy number Lung cancer - 20668451 MIR4322,S1PR2 chr19 10322203 10352248 Gain or loss Breast cancer - 20668451 MIR4322,S1PR2 chr19 10322203 10352248 Gain or loss Cancer - 20668451 MIR4322,S1PR2 chr19 10322203 10352248 Gain or loss Lung cancer - 20668451 MIR4322,S1PR2 chr19 10322203 10352248 Gain or loss Ovarian cancer - 20668451 MIR4322,S1PR2 chr19 10322203 10352248 Gain or loss Pancreas cancer - 20668451 MIR4322,S1PR2 chr19 10322203 10352248 Gain or loss Prostate cancer - 20668451 MIR4322,S1PR2 chr19 10322209 10350105 Gain and loss Pancreatic cancer SNP array 17952125 MIR4322,S1PR2 chr19 10322209 10350114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4322,S1PR2 chr19 10322209 10350114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4322,S1PR2 chr19 10350139 10366017 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 MRPL4 chr19 10362808 10375271 Gain or loss Breast cancer - 20668451 MRPL4 chr19 10362808 10375271 Gain or loss Cancer - 20668451 MRPL4 chr19 10362808 10375271 Gain or loss Lung cancer - 20668451 MRPL4 chr19 10362808 10375271 Gain or loss Ovarian cancer - 20668451 MRPL4 chr19 10362808 10375271 Gain or loss Pancreas cancer - 20668451 MRPL4 chr19 10362808 10375271 Gain or loss Prostate cancer - 20668451 MRPL4 chr19 10362809 10375271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPL4 chr19 10362809 10375271 Gain and loss Pancreatic cancer SNP array 17952125 MRPL4 chr19 10362809 10375271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL4 chr19 10375134 10375214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 10388449 10441306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10388449 10441306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10390501 10392000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ICAM1 chr19 1039155 1046356 Gain and loss Pancreatic cancer SNP array 17952125 ABCA7 chr19 1039168 1046336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA7 chr19 10392001 11570000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP1M2,ATG4D,C19orf38,C19orf52,C19orf80,CARM1,CCDC151,CCDC159,CDC37,CDKN2D,DNM2,DOCK6,ELAVL3,EPOR,FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,KANK2,KEAP1,KRI1,LDLR,LPPR2,MIR1181,MIR1238,MIR199A1,MIR4748,MIR638,PDE4A,PRKCSH,QTRT1,RAB3D,RAVER1,RGL3,S1PR5,SLC44A2,SMARCA4,SPC24,SWSAP1,TMED1,TMEM205,TSPAN16,TYK2,YIPF2,ZGLP1 chr19 10392332 10441307 Gain or loss Breast cancer - 20668451 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10392332 10441307 Gain or loss Cancer - 20668451 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10392332 10441307 Gain or loss Lung cancer - 20668451 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10392332 10441307 Gain or loss Ovarian cancer - 20668451 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10392332 10441307 Gain or loss Pancreas cancer - 20668451 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10392332 10441307 Gain or loss Prostate cancer - 20668451 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10392441 10441306 Gain and loss Pancreatic cancer SNP array 17952125 FDX1L,ICAM1,ICAM4,ICAM5,RAVER1,ZGLP1 chr19 10428147 10428221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAVER1 chr19 10452272 10457771 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 10452272 10457771 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr19 10457795 10475054 Copy number Lung cancer - 20668451 TYK2 chr19 10457795 10475054 Gain or loss Breast cancer - 20668451 TYK2 chr19 10457795 10475054 Gain or loss Cancer - 20668451 TYK2 chr19 10457795 10475054 Gain or loss Lung cancer - 20668451 TYK2 chr19 10457795 10475054 Gain or loss Ovarian cancer - 20668451 TYK2 chr19 10457795 10475054 Gain or loss Pancreas cancer - 20668451 TYK2 chr19 10457795 10475054 Gain or loss Prostate cancer - 20668451 TYK2 chr19 10457796 10475054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TYK2 chr19 10457796 10475054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TYK2 chr19 10457796 10475243 Gain and loss Pancreatic cancer SNP array 17952125 TYK2 chr1 91048019 92234241 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BARHL2,CDC7,HFM1,HSP90B3P,TGFBR3,ZNF644 chr19 10484622 10489127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TYK2 chr19 10484622 10489127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TYK2 chr19 10484622 10489607 Gain and loss Pancreatic cancer SNP array 17952125 TYK2 chr19 10484622 10489607 Gain or loss Breast cancer - 20668451 TYK2 chr19 10484622 10489607 Gain or loss Cancer - 20668451 TYK2 chr19 10484622 10489607 Gain or loss Lung cancer - 20668451 TYK2 chr19 10484622 10489607 Gain or loss Ovarian cancer - 20668451 TYK2 chr19 10484622 10489607 Gain or loss Pancreas cancer - 20668451 TYK2 chr19 10484622 10489607 Gain or loss Prostate cancer - 20668451 TYK2 chr19 10489548 10512171 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 CDC37,TYK2 chr19 10515593 10525093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 10515593 10525093 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 10515593 10525093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 10522709 10522763 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 10523798 10523880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 10524761 10537702 Gain and loss Pancreatic cancer SNP array 17952125 PDE4A chr19 10525267 10537696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4A chr19 105283 118216 Loss Normal Quantitative PCR 18989455 OR4F17 chr19 10538139 10540655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE4A chr19 10538139 10540655 Gain and loss Pancreatic cancer SNP array 17952125 PDE4A chr19 10538139 10540655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4A chr19 10544346 10558991 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PDE4A chr19 10544347 10558991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE4A chr19 10544347 10558991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE4A chr19 10544348 10558991 Gain and loss Pancreatic cancer SNP array 17952125 PDE4A chr19 1054694 1155594 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ABCA7,GPX4,HMHA1,POLR2E,SBNO2 chr19 1054936 1057778 Gain and loss Pancreatic cancer SNP array 17952125 ABCA7 chr19 1055043 1057571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA7 chr19 1055043 1057571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA7 chr19 10574132 10616232 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 KEAP1,PDE4A chr19 10574186 10616233 Gain and loss Pancreatic cancer SNP array 17952125 KEAP1,PDE4A chr19 1058034 1058114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA7 chr19 1058641 1125259 Gain and loss Pancreatic cancer SNP array 17952125 ABCA7,GPX4,HMHA1,POLR2E,SBNO2 chr19 1058658 1125259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA7,GPX4,HMHA1,POLR2E,SBNO2 chr19 1058658 1125259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA7,GPX4,HMHA1,POLR2E,SBNO2 chr19 10597229 10616233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KEAP1 chr19 10597229 10616233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KEAP1 chr19 10614124 10614202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 10623829 10624104 Gain and loss Pancreatic cancer SNP array 17952125 S1PR5 chr19 10623829 10624104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 S1PR5 chr19 10625988 10664095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG4D,KRI1,MIR1238,S1PR5 chr19 10625988 10664095 Gain and loss Pancreatic cancer SNP array 17952125 ATG4D,KRI1,MIR1238,S1PR5 chr19 10625988 10664095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG4D,KRI1,MIR1238,S1PR5 chr19 10673131 10685040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP1M2,CDKN2D,KRI1 chr19 10673131 10685040 Gain and loss Pancreatic cancer SNP array 17952125 AP1M2,CDKN2D,KRI1 chr19 10673131 10685040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP1M2,CDKN2D,KRI1 chr19 10685143 10803579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP1M2,ILF3,ILF3-AS1,SLC44A2 chr19 10685143 10803579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP1M2,ILF3,ILF3-AS1,SLC44A2 chr19 10689774 10803579 Gain and loss Pancreatic cancer SNP array 17952125 AP1M2,ILF3,ILF3-AS1,SLC44A2 chr19 10690080 10690179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP1M2 chr19 10722778 20260482 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD8,ACP5,AKAP8,AKAP8L,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ASF1B,ASNA1,ATP13A1,B3GNT3,BABAM1,BEST2,BRD4,BST2,C19orf38,C19orf42,C19orf43,C19orf44,C19orf52,C19orf53,C19orf57,C19orf60,C19orf80,CACNA1A,CALR,CALR3,CARM1,CASP14,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CD97,CERS1,CHERP,CIB3,CILP2,CLEC17A,CNN1,COMP,COPE,CPAMD8,CRLF1,CRTC1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DCAF15,DDA1,DDX39A,DDX49,DHPS,DNAJB1,DNASE2,DNM2,DOCK6,ECSIT,ELAVL3,ELL,ELOF1,EMR2,EMR3,EPHX3,EPOR,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FARSA,FBXW9,FCHO1,FKBP8,FLJ25328,GADD45GIP1,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HOOK2,HSH2D,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,ISYNA1,JAK3,JUNB,JUND,KANK2,KCNN1,KIAA1683,KLF1,KLF2,KLHL26,KXD1,LDLR,LINC00661,LINC00663,LOC100507373,LOC113230,LOC284454,LOC729966,LPAR2,LPHN1,LPPR2,LRRC25,LSM4,LYL1,MAN2B1,MAP1S,MAST1,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1470,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR4748,MIR638,MIR639,MPV17L2,MRI1,MRPL34,MYO9B,NACC1,NANOS3,NCAN,NDUFA13,NDUFB7,NFIX,NOTCH3,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PBX4,PDE4C,PGLS,PGLYRP2,PGPEP1,PIK3R2,PKN1,PLVAP,PODNL1,PRDX2,PRKACA,PRKCSH,PTGER1,QTRT1,RAB3A,RAB3D,RAB8A,RAD23A,RASAL3,RFX1,RFXANK,RGL3,RLN3,RNASEH2A,RPL18A,RTBDN,SAMD1,SIN3B,SLC1A6,SLC25A42,SLC27A1,SLC35E1,SLC44A2,SLC5A5,SMARCA4,SNORA68,SNORD41,SPC24,SSBP4,STX10,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TECR,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TNPO2,TPM4,TRMT1,TSPAN16,TSSK6,UBA52,UCA1,UNC13A,UPF1,USE1,USHBP1,WDR83,WDR83OS,WIZ,YIPF2,YJEFN3,ZNF101,ZNF136,ZNF14,ZNF20,ZNF253,ZNF333,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF506,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF682,ZNF69,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF823,ZNF833P,ZNF844,ZNF878,ZNF90,ZNF93,ZSWIM4 chr19 10785899 10820583 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ILF3,QTRT1 chr19 10789102 10789172 Amplification Acute myeloid leukemia BAC aCGH 20962326 ILF3 chr19 10789102 10789172 Gain and loss Pancreatic cancer SNP array 17952125 ILF3 chr19 10789102 10789172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ILF3 chr19 10804115 10807983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 10804115 10807983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 10804115 10807983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 10807099 10807144 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr19 10820160 10841043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM2,MIR638,QTRT1 chr19 10820160 10841043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM2,MIR638,QTRT1 chr19 10820185 10841043 Gain and loss Pancreatic cancer SNP array 17952125 DNM2,MIR638,QTRT1 chr19 1083296 1109791 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPX4,HMHA1,POLR2E,SBNO2 chr19 10843253 10894448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM2,MIR4748 chr19 10843253 10894448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM2,MIR4748 chr19 10843253 10894450 Gain and loss Pancreatic cancer SNP array 17952125 DNM2,MIR4748 chr19 10857574 10857732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNM2 chr19 1087477 1118729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPX4,POLR2E,SBNO2 chr19 10894446 10900357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM2 chr19 10894446 10900357 Gain and loss Pancreatic cancer SNP array 17952125 DNM2 chr19 10894446 10900357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM2 chr19 10900424 10901914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNM2 chr19 10900424 10901914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNM2 chr19 10900434 10901929 Gain and loss Pancreatic cancer SNP array 17952125 DNM2 chr1 91092880 91199692 Gain and loss Pancreatic cancer SNP array 17952125 BARHL2 chr19 10930402 10930484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNM2 chr19 10932606 11033953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf38,CARM1,DNM2,TMED1,YIPF2 chr19 10932606 11033953 Gain and loss Pancreatic cancer SNP array 17952125 C19orf38,CARM1,DNM2,TMED1,YIPF2 chr19 10932606 11033953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf38,CARM1,DNM2,TMED1,YIPF2 chr19 10934734 11092432 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C19orf38,C19orf52,CARM1,DNM2,SMARCA4,TMED1,YIPF2 chr19 1094877 1109165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPX4,POLR2E,SBNO2 chr19 1095296 1227482 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 GPX4,POLR2E,SBNO2,STK11 chr19 109558062 109582308 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 1095624 1114418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPX4,SBNO2 chr19 10983384 10983680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARM1 chr19 10983384 10983682 Gain and loss Pancreatic cancer SNP array 17952125 CARM1 chr19 10983384 10983682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARM1 chr19 11000597 11000682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARM1 chr1 91102483 91102583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 11026654 11026730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARM1 chr19 11032172 11032207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARM1 chr19 11042594 11042681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 11061056 11105505 Copy number Familial hypercholesterolemia Sequence analysis 20663204 SMARCA4 chr19 11061056 11105505 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 SMARCA4 chr19 11061132 11105490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMARCA4 chr19 11061132 11105490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMARCA4 chr19 11061155 11103838 Gain and loss Pancreatic cancer SNP array 17952125 SMARCA4 chr19 11077574 11111139 Gain Normal Birdsuite, version 1.5.2 22087296 SMARCA4 chr19 11117170 11127458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMARCA4 chr19 11117170 11127458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMARCA4 chr19 11118859 11127452 Gain and loss Pancreatic cancer SNP array 17952125 SMARCA4 chr19 11135945 11169467 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 SMARCA4 chr19 11135947 11167496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMARCA4 chr19 11135947 11167496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMARCA4 chr19 11136914 11137213 Gain and loss Pancreatic cancer SNP array 17952125 SMARCA4 chr19 11137411 11169471 Gain and loss Pancreatic cancer SNP array 17952125 SMARCA4 chr19 1117096 1117135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SBNO2 chr19 11170970 11234157 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 LDLR,SMARCA4 chr19 11170973 11234128 Gain and loss Pancreatic cancer SNP array 17952125 LDLR,SMARCA4 chr19 11170973 11234157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDLR,SMARCA4 chr19 11170973 11234157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDLR,SMARCA4 chr19 11187565 11187565 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr19 11209126 11213618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LDLR chr19 11209126 11213618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LDLR chr19 11209819 11213619 Gain and loss Pancreatic cancer SNP array 17952125 LDLR chr19 11248766 11248866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 1 12600000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf45,C19orf52,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACTIN,CACTIN-AS1,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAPK3,DAZAP1,DENND1C,DIRAS1,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FAM138A,FAM138F,FBN3,FBXL12,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,MADCAM1,MAP2K2,MAP2K7,MARCH2,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR4F17,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNF126,RPL36,RPS15,RPS28,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SPC24,SPPL2B,STAP2,STK11,STXBP2,SWSAP1,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRAPPC5,TRIP10,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 1 12600000 Duplication Mental retardation array-CGH 19156171 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf45,C19orf52,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACTIN,CACTIN-AS1,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAPK3,DAZAP1,DENND1C,DIRAS1,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FAM138A,FAM138F,FBN3,FBXL12,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,MADCAM1,MAP2K2,MAP2K7,MARCH2,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR4F17,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNF126,RPL36,RPS15,RPS28,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SPC24,SPPL2B,STAP2,STK11,STXBP2,SWSAP1,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRAPPC5,TRIP10,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 1 12600000 Duplication Schizophrenia FISH 20877625 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf45,C19orf52,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACTIN,CACTIN-AS1,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAPK3,DAZAP1,DENND1C,DIRAS1,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FAM138A,FAM138F,FBN3,FBXL12,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,MADCAM1,MAP2K2,MAP2K7,MARCH2,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR4F17,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNF126,RPL36,RPS15,RPS28,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SPC24,SPPL2B,STAP2,STK11,STXBP2,SWSAP1,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRAPPC5,TRIP10,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 11267824 11298672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANK2 chr19 11267824 11298672 Gain and loss Pancreatic cancer SNP array 17952125 KANK2 chr19 11267824 11298672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANK2 chr19 11272543 11292999 Gain and loss Pancreatic cancer SNP array 17952125 KANK2 chr19 11296094 11311321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK6,KANK2 chr19 11296094 11311321 Gain and loss Pancreatic cancer SNP array 17952125 DOCK6,KANK2 chr19 11296094 11311321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK6,KANK2 chr19 11298922 11298976 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 KANK2 chr1 91131137 91131757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 11314452 11317916 Gain and loss Pancreatic cancer SNP array 17952125 DOCK6 chr19 11314457 11317960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 11314457 11317960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 11316357 11326619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 11316357 11326619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 1132002 1132057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SBNO2 chr19 11320629 11326371 Gain and loss Pancreatic cancer SNP array 17952125 DOCK6 chr19 11327107 11337372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 11327107 11337372 Gain and loss Pancreatic cancer SNP array 17952125 DOCK6 chr19 11327107 11337372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 1133642 1134159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SBNO2 chr19 11346383 11348627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 11346383 11348627 Gain and loss Pancreatic cancer SNP array 17952125 DOCK6 chr19 11346383 11348627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 11348883 11390949 Gain and loss Pancreatic cancer SNP array 17952125 C19orf80,DOCK6 chr19 11349300 11356019 Gain or loss Breast cancer - 20668451 C19orf80,DOCK6 chr19 11349300 11356019 Gain or loss Cancer - 20668451 C19orf80,DOCK6 chr19 11349300 11356019 Gain or loss Lung cancer - 20668451 C19orf80,DOCK6 chr19 11349300 11356019 Gain or loss Ovarian cancer - 20668451 C19orf80,DOCK6 chr19 11349300 11356019 Gain or loss Pancreas cancer - 20668451 C19orf80,DOCK6 chr19 11349300 11356019 Gain or loss Prostate cancer - 20668451 C19orf80,DOCK6 chr19 11349475 11356019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf80,DOCK6 chr19 11349475 11356019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf80,DOCK6 chr19 11356188 11391006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 11356188 11391006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK6 chr19 11378486 11379622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 11380448 11380554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 11380448 11380555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 11380448 11380556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1 13900000 Deletion Hepatocellular carcinoma Array CGH 16750200 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BEST2,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAND5,DAPK3,DAZAP1,DENND1C,DHPS,DIRAS1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FAM138A,FAM138F,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF1,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,LYL1,MADCAM1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRI1,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NACC1,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NFIX,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR4F17,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNASEH2A,RNF126,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STK11,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 1 13900000 Gain and amplification Multiple myeloma Array CGH 16616336 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BEST2,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAND5,DAPK3,DAZAP1,DENND1C,DHPS,DIRAS1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FAM138A,FAM138F,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF1,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,LYL1,MADCAM1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRI1,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NACC1,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NFIX,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR4F17,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNASEH2A,RNF126,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STK11,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 1 13900000 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BEST2,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAND5,DAPK3,DAZAP1,DENND1C,DHPS,DIRAS1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FAM138A,FAM138F,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF1,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,LYL1,MADCAM1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRI1,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NACC1,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NFIX,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR4F17,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNASEH2A,RNF126,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STK11,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 1 13900000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BEST2,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAND5,DAPK3,DAZAP1,DENND1C,DHPS,DIRAS1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FAM138A,FAM138F,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF1,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,LYL1,MADCAM1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRI1,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NACC1,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NFIX,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR4F17,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNASEH2A,RNF126,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STK11,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 1 13900000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BEST2,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAND5,DAPK3,DAZAP1,DENND1C,DHPS,DIRAS1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FAM138A,FAM138F,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF1,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,LYL1,MADCAM1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRI1,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NACC1,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NFIX,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR4F17,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNASEH2A,RNF126,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STK11,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 11392273 11406940 Gain and loss Pancreatic cancer SNP array 17952125 TSPAN16 chr19 11392273 11406980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSPAN16 chr19 11392273 11406980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN16 chr19 11407269 11422783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSPAN16 chr19 11407269 11422783 Gain and loss Pancreatic cancer SNP array 17952125 TSPAN16 chr19 11407269 11422783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSPAN16 chr19 11423143 11452803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB3D,TSPAN16 chr19 11423143 11452803 Gain and loss Pancreatic cancer SNP array 17952125 RAB3D,TSPAN16 chr19 11423143 11452803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB3D,TSPAN16 chr19 11423884 11424812 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TSPAN16 chr19 11425515 11426061 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TSPAN16 chr19 11455246 11477654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC159,LPPR2,TMEM205 chr19 11455246 11477654 Gain and loss Pancreatic cancer SNP array 17952125 CCDC159,LPPR2,TMEM205 chr19 11455246 11477654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC159,LPPR2,TMEM205 chr19 11455387 11455472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM205 chr19 11477745 11500952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPOR,SWSAP1 chr19 11477745 11500952 Gain and loss Pancreatic cancer SNP array 17952125 EPOR,SWSAP1 chr19 11477745 11500952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPOR,SWSAP1 chr19 11487862 11488124 Gain and loss Pancreatic cancer SNP array 17952125 EPOR chr19 11487862 11488124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPOR chr19 11491714 11491776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPOR chr19 11493771 11494313 Gain and loss Pancreatic cancer SNP array 17952125 EPOR chr19 11493783 11494313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPOR chr19 11495251 11495646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 11495251 11495646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 11510578 11522138 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 RGL3 chr19 11510579 11522138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGL3 chr19 11510579 11522138 Gain and loss Pancreatic cancer SNP array 17952125 RGL3 chr19 11510579 11522138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGL3 chr19 11524858 11531051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGL3 chr19 11524858 11531051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGL3 chr19 11524862 11526181 Gain and loss Pancreatic cancer SNP array 17952125 RGL3 chr1 91153444 91260259 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 BARHL2 chr1 91153447 91260358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BARHL2 chr1 91153447 91260358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BARHL2 chr1 91153447 91260417 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BARHL2 chr19 1154208 1154822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SBNO2 chr19 11546477 11549496 Gain and loss Pancreatic cancer SNP array 17952125 PRKCSH chr19 11546477 11550766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCSH chr19 11546477 11550766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCSH chr19 1156797 1179434 Copy number Lung cancer - 20668451 SBNO2 chr19 1156797 1179434 Deletion Cervical cancer MLPA 19340305 SBNO2 chr19 1156797 1179434 Gain or loss Breast cancer - 20668451 SBNO2 chr19 1156797 1179434 Gain or loss Cancer - 20668451 SBNO2 chr19 1156797 1179434 Gain or loss Lung cancer - 20668451 SBNO2 chr19 1156797 1179434 Gain or loss Ovarian cancer - 20668451 SBNO2 chr19 1156797 1179434 Gain or loss Pancreas cancer - 20668451 SBNO2 chr19 1156797 1179434 Gain or loss Prostate cancer - 20668451 SBNO2 chr19 1156797 1179434 Splice Breast cancer - 20616022 SBNO2 chr19 1156798 1179434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SBNO2 chr19 1156798 1179434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SBNO2 chr19 1156804 1179093 Gain and loss Pancreatic cancer SNP array 17952125 SBNO2 chr19 11569327 11590974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELAVL3 chr19 11569327 11590974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELAVL3 chr19 1157641 1179428 Amplification or deletion Cancer Array CGH 17440070 SBNO2 chr19 11586341 11590974 Gain and loss Pancreatic cancer SNP array 17952125 ELAVL3 chr19 11611591 11658382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNN1,ECSIT,ZNF653 chr19 11611591 11658382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNN1,ECSIT,ZNF653 chr19 11619229 11625263 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ECSIT chr19 11637884 11638845 Gain and loss Pancreatic cancer SNP array 17952125 ECSIT chr19 11637884 11638845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECSIT chr19 11657042 11657605 Gain and loss Pancreatic cancer SNP array 17952125 CNN1 chr19 11693081 11710730 Gain and loss Pancreatic cancer SNP array 17952125 ZNF627 chr19 11693081 11710760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF627 chr19 11693081 11710760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF627 chr19 11738907 11754301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 11738907 11754301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 11751841 11753721 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 11753968 11754549 Gain Normal 244K array 17666407 NOT_FOUND chr19 1177010 1177110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 11770391 11780306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 11770391 11780306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 11776356 11780889 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 11786107 11807016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF833P chr19 1180178 1188990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1180178 1188990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 11802097 11807016 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 1180955 1188841 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 11837844 11841305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF823 chr19 11837844 11841305 Gain and loss Pancreatic cancer SNP array 17952125 ZNF823 chr19 11837844 11841305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF823 chr19 11859670 11886130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF441 chr19 11859739 11886130 Gain and loss Pancreatic cancer SNP array 17952125 ZNF441 chr19 11872904 11872984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 11876948 11877333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 11876948 11877333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 91187903 91188002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 11883727 11886130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF441 chr19 11883727 11886130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF441 chr19 11896900 11922577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF491 chr19 11896900 11922577 Gain and loss Pancreatic cancer SNP array 17952125 ZNF491 chr19 11896900 11922577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF491 chr19 11898982 11908137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 11900251 11900565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 11900599 11907033 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 1 19251679 Loss Medulloblastoma array-CGH 16783165 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCLN,NDUFA11,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1192749 1195823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1192749 1195823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 1192749 1195823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 11936869 11952196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF440 chr19 11936869 11952196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF440 chr19 11945972 13276472 LOH Normal High-resolution SNP genotyping 21211785 ASNA1,BEST2,C19orf43,CALR,DAND5,DHPS,DNASE2,FARSA,FBXW9,GADD45GIP1,GCDH,HOOK2,IER2,JUNB,KLF1,LYL1,MAN2B1,MAST1,NACC1,NFIX,PRDX2,RAD23A,RNASEH2A,RTBDN,SNORD41,STX10,SYCE2,TNPO2,TRMT1,WDR83,WDR83OS,ZNF136,ZNF20,ZNF433,ZNF439,ZNF44,ZNF440,ZNF442,ZNF443,ZNF490,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF69,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF844,ZNF878 chr19 11950033 12150103 Gain Anaplastic thyroid cancer 33K microarrays 18753363 ZNF433,ZNF439,ZNF69,ZNF700,ZNF763 chr19 11959471 11999553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF439,ZNF69 chr19 11959471 11999553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF439,ZNF69 chr19 11968630 11968733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 11968630 11968733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1 19800000 Gain Breast cancer Array CGH 16608533 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 19800000 Gain Follicular lymphoma aCGH 20505157 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 19800000 Gain Metanephric adenoma Oligo aCGH 20802469 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 19800000 Gain Prostate cancer Array CGH 16573809 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 19800000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 19800000 Loss Glioblastoma multiforme aCGH 21080181 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 19800000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 19800000 Loss Non-syndromic sensorineural hearing loss Array CGH 20179077 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 11986532 12007525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF69 chr19 11986532 12007525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF69 chr19 11986573 11990117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 1199552 1210139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK11 chr19 1199552 1210139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK11 chr19 11999727 11999836 Gain and loss Pancreatic cancer SNP array 17952125 ZNF69 chr19 11999728 11999836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF69 chr19 1 20000000 Gain Endometrioid adenocarcinoma CGH 16974079 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF253,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 20000000 Gain Prostate cancer Array CGH 16573809 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF253,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 20000000 Gain Salivary gland adenoid cystic carcinoma Genome-wide scanning BAC array 17545515 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF253,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 1 20000000 Loss Lung cancer array CGH 17297452 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF253,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 120000 5180000 Gain Breast cancer aCGH 21509527 ABCA7,ADAMTSL5,ADAT3,AES,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf71,C19orf77,C2CD4C,CACTIN,CACTIN-AS1,CCDC94,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CNN2,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DIRAS1,DOHH,DOT1L,DPP9,EBI3,EEF2,EFNA2,ELANE,FAM108A1,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPX4,GRIN3B,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,IZUMO4,JSRP1,KDM4B,KISS1R,KLF16,LINGO3,LMNB2,LOC100131094,LOC100288123,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFS7,NFIC,NMRK2,OAZ1,ODF3L2,ONECUT3,PALM,PCSK4,PIAS4,PIP5K1C,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRSS57,PRTN3,PTBP1,R3HDM4,RAX2,REEP6,REXO1,RNF126,RPS15,S1PR4,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH3GL1,SHC2,SHD,SIRT6,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TPGS1,UBXN6,UHRF1,UQCR11,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77 chr19 1200887 1210078 Gain and loss Pancreatic cancer SNP array 17952125 STK11 chr1 91202199 91202387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12025961 12040898 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNF700 chr19 12025961 12040898 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 ZNF700 chr19 12036528 12049629 Gain and loss Pancreatic cancer SNP array 17952125 ZNF700 chr19 12041997 12042087 Gain and loss Pancreatic cancer SNP array 17952125 ZNF700 chr19 12041997 12042087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF700 chr19 1205797 1228434 Loss Intracranial arachnoid cysts 34 larynx and 22 pharynx carcinomas 17641416 STK11 chr19 12060060 12060161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF700 chr19 12060062 12060161 Gain and loss Pancreatic cancer SNP array 17952125 ZNF700 chr19 12060064 12060157 Gain and loss Pancreatic cancer SNP array 17952125 ZNF700 chr19 12064078 12086499 Gain and loss Pancreatic cancer SNP array 17952125 ZNF763 chr19 12064087 12086499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF763 chr19 12064151 12071475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12067905 12067962 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12067905 12067962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12067964 12068035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12068033 12068101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12068033 12068101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12078312 12078429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF763 chr19 12078315 12078431 Gain and loss Pancreatic cancer SNP array 17952125 ZNF763 chr19 12103803 12112140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12103803 12112140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12103803 12128546 Gain and loss Pancreatic cancer SNP array 17952125 ZNF433 chr19 12116711 12128529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF433 chr19 12116711 12128529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF433 chr19 12134919 12161063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF433,ZNF878 chr19 12134919 12161063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF433,ZNF878 chr19 12134940 12159758 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF433,ZNF878 chr19 12156433 12160608 Gain and loss Pancreatic cancer SNP array 17952125 ZNF878 chr19 12157284 12194758 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF844,ZNF878 chr19 12157284 12311386 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF136,ZNF20,ZNF625,ZNF625-ZNF20,ZNF788,ZNF844,ZNF878 chr19 12160376 12160449 Gain and loss Pancreatic cancer SNP array 17952125 ZNF878 chr19 12173203 12289248 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF136,ZNF20,ZNF625,ZNF625-ZNF20,ZNF788,ZNF844 chr19 12176801 12176901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF844 chr19 12196503 12266637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF20,ZNF625,ZNF625-ZNF20,ZNF788 chr19 1220336 1224169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK11 chr19 1220336 1224169 Gain and loss Pancreatic cancer SNP array 17952125 STK11 chr19 1220336 1224169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK11 chr19 1220822 1221139 Gain and loss Pancreatic cancer SNP array 17952125 STK11 chr19 12214623 12265190 Gain and loss Pancreatic cancer SNP array 17952125 ZNF20,ZNF625,ZNF625-ZNF20,ZNF788 chr19 12214948 12220437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF788 chr19 12214948 12220437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF788 chr19 12231941 12232352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12231941 12232352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1226438 1230227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf26,STK11 chr19 1226520 1230227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf26,STK11 chr19 1226520 1230227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf26,STK11 chr19 1226551 1230226 Gain and loss Pancreatic cancer SNP array 17952125 C19orf26,STK11 chr19 1228607 1228674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 9122885 9123352 Gain and loss Pancreatic cancer SNP array 17952125 SLC2A5 chr19 12289306 12305534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF136 chr19 12289308 12305502 Gain and loss Pancreatic cancer SNP array 17952125 ZNF136 chr19 1229240 1229240 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 1 230500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM138A,FAM138F,FLJ45445,OR4F17,WASH5P chr19 12321184 12337475 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 12321184 12337475 Gain or loss Cancer - 20668451 NOT_FOUND chr19 12321184 12337475 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 12321184 12337475 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 12321184 12337475 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 12321184 12337475 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 12321185 12337475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12321185 12337475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12321515 12335445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12361831 12372794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12361831 12372794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1237168 1250944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5D,C19orf26,MIDN chr19 1237168 1250944 Gain and loss Pancreatic cancer SNP array 17952125 ATP5D,C19orf26,MIDN chr19 1237168 1250944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5D,C19orf26,MIDN chr19 1 23732307 Gain Medulloblastoma array-CGH 16783165 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF676,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 12373960 12374415 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12385101 13258496 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ASNA1,BEST2,C19orf43,CALR,DAND5,DHPS,DNASE2,FARSA,FBXW9,GADD45GIP1,GCDH,HOOK2,JUNB,KLF1,LYL1,MAN2B1,MAST1,NACC1,NFIX,PRDX2,RAD23A,RNASEH2A,RTBDN,SNORD41,STX10,SYCE2,TNPO2,TRMT1,WDR83,WDR83OS,ZNF44,ZNF442,ZNF443,ZNF490,ZNF563,ZNF564,ZNF709,ZNF791,ZNF799 chr19 12387797 12387947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF44 chr19 12401521 12405018 Gain and loss Pancreatic cancer SNP array 17952125 ZNF44 chr19 12401521 12412832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF44 chr19 12401521 12412832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF44 chr19 12410655 12592450 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF442,ZNF443,ZNF563,ZNF709,ZNF799 chr19 12416101 12420600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 12433373 12438665 Gain and loss Pancreatic cancer SNP array 17952125 ZNF563 chr19 12435345 12569282 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF442,ZNF443,ZNF563,ZNF799 chr19 12435743 12456632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF563 chr19 12435743 12456632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF563 chr19 12438462 12470857 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF442,ZNF563 chr19 12438865 12470771 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF442,ZNF563 chr19 12444694 12444794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 12450000 13330000 Gain Breast cancer aCGH 21509527 ASNA1,BEST2,C19orf43,CACNA1A,CALR,DAND5,DHPS,DNASE2,FARSA,FBXW9,GADD45GIP1,GCDH,HOOK2,IER2,JUNB,KLF1,LYL1,MAN2B1,MAST1,NACC1,NFIX,PRDX2,RAD23A,RNASEH2A,RTBDN,SNORD41,STX10,SYCE2,TNPO2,TRMT1,WDR83,WDR83OS,ZNF442,ZNF443,ZNF490,ZNF564,ZNF709,ZNF791,ZNF799 chr19 12465973 12490479 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF442 chr19 12467942 12472271 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF442 chr19 12497185 12666843 Gain and loss Pancreatic cancer SNP array 17952125 ZNF443,ZNF564,ZNF709,ZNF799 chr19 12497231 12500487 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 12497536 12523327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF799 chr19 12497536 12523327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF799 chr19 12521505 12561738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF443 chr1 912529 3454889 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ACAP3,ACTRT2,AGRN,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,LOC100129534,LOC100133445,LOC115110,LOC148413,LOC254099,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,PANK4,PEX10,PLCH2,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TTC34,TTLL10,UBE2J2,VWA1 chr1 912529 3548139 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ACAP3,ACTRT2,AGRN,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,LOC100129534,LOC100133445,LOC115110,LOC148413,LOC254099,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,PANK4,PEX10,PLCH2,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WRAP73 chr1 912529 3548139 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ACAP3,ACTRT2,AGRN,ANKRD65,ARHGEF16,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM213B,FLJ42875,GABRD,GLTPD1,GNB1,HES4,HES5,ISG15,KIAA1751,LOC100129534,LOC100133445,LOC115110,LOC148413,LOC254099,MEGF6,MIB2,MIR200A,MIR200B,MIR4251,MIR429,MIR551A,MMEL1,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,PANK4,PEX10,PLCH2,PRDM16,PRKCZ,PUSL1,RER1,RNF223,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF4,TPRG1L,TTC34,TTLL10,UBE2J2,VWA1,WRAP73 chr1 912529 45151506 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AADACL3,AADACL4,ACAP3,ACOT7,ACTL8,ACTRT2,ADC,ADPRHL2,AGMAT,AGRN,AGTRAP,AHDC1,AIM1L,AJAP1,AK2,AKIRIN1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALPL,ANGPTL7,ANKRD65,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ATAD3A,ATAD3B,ATAD3C,ATP13A2,ATP6V0B,ATPIF1,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BMP8A,BMP8B,BSDC1,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf159,C1orf170,C1orf172,C1orf174,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf63,C1orf64,C1orf86,C1orf94,CA6,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CDA,CDC20,CDC42,CDCA8,CDK11A,CDK11B,CELA2A,CELA2B,CELA3A,CELA3B,CEP104,CEP85,CHD5,CITED4,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CNKSR1,CNR2,COL16A1,COL8A2,COL9A2,CORT,CPSF3L,CROCC,CROCCP2,CROCCP3,CSF3R,CSMD2,CTNNBIP1,CTPS1,CTRC,DCDC2B,DDI2,DDOST,DEM1,DFFA,DFFB,DHDDS,DHRS3,DLGAP3,DMAP1,DNAJC11,DNAJC16,DNAJC8,DNALI1,DPH2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,EDN2,EFHD2,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELOVL1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EXOSC10,EXTL1,EYA3,FABP3,FAM110D,FAM131C,FAM132A,FAM167B,FAM176B,FAM183A,FAM213B,FAM43B,FAM46B,FAM54B,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGR,FHAD1,FHL3,FLJ37453,FLJ42875,FNDC5,FOXJ3,FUCA1,GABRD,GALE,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLTPD1,GMEB1,GNB1,GNL2,GPATCH3,GPN2,GPR153,GPR157,GPR3,GRHL3,GRIK3,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HES2,HES3,HES4,HES5,HEYL,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HP1BP3,HPCA,HPCAL4,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI6,IGSF21,IL22RA1,IL28RA,INPP5B,IPO13,IQCC,ISG15,KAZN,KCNAB2,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0754,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KLF17,KLHDC7A,KLHL21,KPNA6,LAPTM5,LCK,LDLRAD2,LDLRAP1,LEPRE1,LIN28A,LINC00339,LOC100128071,LOC100129534,LOC100129924,LOC100130557,LOC100133445,LOC100133612,LOC100506730,LOC100506801,LOC100506963,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC402779,LOC440563,LOC644961,LOC646471,LOC649330,LOC653160,LOC728431,LOC728716,LOC729059,LRRC38,LRRC47,LSM10,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MATN1,MATN1-AS1,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MIB2,MIIP,MINOS1,MIR1976,MIR200A,MIR200B,MIR30C1,MIR30E,MIR3115,MIR34A,MIR3605,MIR3659,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4632,MIR4684,MIR4689,MIR4695,MIR551A,MIR5581,MIR5584,MMEL1,MMP23A,MMP23B,MORN1,MPL,MRPL20,MRPS15,MRTO4,MST1P2,MST1P9,MTF1,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MXRA8,MYCBP,MYCL1,MYOM3,NADK,NBL1,NBPF1,NBPF3,NCDN,NCMAP,NDUFS5,NECAP2,NFYC,NIPAL3,NKAIN1,NMNAT1,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NT5C1A,NUDC,OPRD1,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PANK4,PAQR7,PARK7,PAX7,PDIK1L,PDPN,PEF1,PER3,PEX10,PEX14,PGD,PHACTR4,PHC2,PHF13,PIGV,PIK3CD,PINK1,PITHD1,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLOD1,PNRC2,POU3F1,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRKCZ,PSMB2,PTAFR,PTCHD2,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB42,RAP1GAP,RBBP4,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF186,RNF19B,RNF207,RNF220,RNF223,RNU11,RPA2,RPL11,RPL22,RPS6KA1,RRAGC,RSC1A1,RSG1,RSPO1,RUNX3,S100PBP,SCARNA1,SCMH1,SCNN1D,SDC3,SDF4,SDHB,SEPN1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SH2D5,SH3BGRL3,SH3D21,SKI,SLC25A33,SLC25A34,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC35E2,SLC35E2B,SLC45A1,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORD103A,SNORD103B,SNORD85,SNORD99,SNRNP40,SPATA21,SPEN,SPOCD1,SPSB1,SRM,SRRM1,SRSF10,SRSF4,SSU72,ST3GAL3,STK40,STMN1,STPG1,STX12,SYF2,SYNC,SYTL1,SZRD1,SZT2,TAF12,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEB3,TEKT2,TFAP2E,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TMCO2,TMCO4,TMEM125,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM57,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TP73,TP73-AS1,TPRG1L,TRAPPC3,TRIM62,TRIM63,TRIT1,TRNAU1AP,TRNP1,TSSK3,TTC34,TTLL10,TXLNA,UBE2J2,UBE4B,UBIAD1,UBR4,UBXN10,UBXN11,UQCRHL,USP48,UTP11L,UTS2,VAMP3,VPS13D,VWA1,VWA5B1,WASF2,WDR65,WDTC1,WNT4,WRAP73,XKR8,YARS,YBX1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC17,ZDHHC18,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF683,ZNF684,ZNF691,ZSCAN20 chr19 12531373 12532919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12531385 12532919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12536298 12577197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF443,ZNF709 chr19 12547646 12582595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF443,ZNF709 chr19 12547646 12582595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF443,ZNF709 chr19 12551313 12561738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF443 chr19 12552299 12582494 Gain and loss Pancreatic cancer SNP array 17952125 ZNF709 chr19 12553502 12566426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 12554101 12561700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 12555001 12559500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 12555877 12559930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 12555934 12562427 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 12555939 12559475 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 12559501 12635000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF709 chr19 12582753 12601047 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF709 chr19 12582753 12601647 Gain and loss Pancreatic cancer SNP array 17952125 ZNF709 chr19 12582753 12601647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF709 chr19 12600000 13800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASNA1,BEST2,C19orf43,CACNA1A,CALR,DAND5,DHPS,DNASE2,FARSA,FBXW9,GADD45GIP1,GCDH,HOOK2,IER2,JUNB,KLF1,LYL1,MAN2B1,MAST1,NACC1,NFIX,PRDX2,RAD23A,RNASEH2A,RTBDN,SNORD41,STX10,SYCE2,TNPO2,TRMT1,WDR83,WDR83OS,ZNF490,ZNF564,ZNF791 chr19 12600000 13800000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 ASNA1,BEST2,C19orf43,CACNA1A,CALR,DAND5,DHPS,DNASE2,FARSA,FBXW9,GADD45GIP1,GCDH,HOOK2,IER2,JUNB,KLF1,LYL1,MAN2B1,MAST1,NACC1,NFIX,PRDX2,RAD23A,RNASEH2A,RTBDN,SNORD41,STX10,SYCE2,TNPO2,TRMT1,WDR83,WDR83OS,ZNF490,ZNF564,ZNF791 chr19 12600000 13800000 Gain Ovarian cancer Affymetrix 20844748 ASNA1,BEST2,C19orf43,CACNA1A,CALR,DAND5,DHPS,DNASE2,FARSA,FBXW9,GADD45GIP1,GCDH,HOOK2,IER2,JUNB,KLF1,LYL1,MAN2B1,MAST1,NACC1,NFIX,PRDX2,RAD23A,RNASEH2A,RTBDN,SNORD41,STX10,SYCE2,TNPO2,TRMT1,WDR83,WDR83OS,ZNF490,ZNF564,ZNF791 chr19 12600000 19800000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD8,AKAP8,AKAP8L,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ASF1B,ASNA1,ATP13A1,B3GNT3,BABAM1,BEST2,BRD4,BST2,C19orf42,C19orf43,C19orf44,C19orf53,C19orf57,C19orf60,CACNA1A,CALR,CALR3,CASP14,CC2D1A,CCDC105,CCDC124,CCDC130,CD97,CERS1,CHERP,CIB3,CILP2,CLEC17A,COMP,COPE,CPAMD8,CRLF1,CRTC1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DCAF15,DDA1,DDX39A,DDX49,DHPS,DNAJB1,DNASE2,ELL,EMR2,EMR3,EPHX3,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FARSA,FBXW9,FCHO1,FKBP8,FLJ25328,GADD45GIP1,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HOOK2,HSH2D,IER2,IFI30,IL12RB1,IL27RA,ILVBL,INSL3,ISYNA1,JAK3,JUNB,JUND,KCNN1,KIAA1683,KLF1,KLF2,KLHL26,KXD1,LINC00661,LOC100507373,LOC113230,LOC284454,LOC729966,LPAR2,LPHN1,LRRC25,LSM4,LYL1,MAN2B1,MAP1S,MAST1,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR639,MPV17L2,MRI1,MRPL34,MYO9B,NACC1,NANOS3,NCAN,NDUFA13,NDUFB7,NFIX,NOTCH3,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PBX4,PDE4C,PGLS,PGLYRP2,PGPEP1,PIK3R2,PKN1,PLVAP,PODNL1,PRDX2,PRKACA,PTGER1,RAB3A,RAB8A,RAD23A,RASAL3,RFX1,RFXANK,RLN3,RNASEH2A,RPL18A,RTBDN,SAMD1,SIN3B,SLC1A6,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SNORD41,SSBP4,STX10,SUGP1,SUGP2,SYCE2,SYDE1,TECR,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TNPO2,TPM4,TRMT1,TSSK6,UBA52,UCA1,UNC13A,UPF1,USE1,USHBP1,WDR83,WDR83OS,WIZ,YJEFN3,ZNF101,ZNF333,ZNF490,ZNF564,ZNF791,ZSWIM4 chr19 12601548 12601599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12614338 12615494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 12615089 12615733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12618322 12638828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12618322 12638828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12618333 12638828 Gain and loss Pancreatic cancer SNP array 17952125 ZNF564 chr19 12619717 12619777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 91262064 91262949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12635001 13219500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASNA1,BEST2,C19orf43,CALR,DAND5,DHPS,DNASE2,FARSA,FBXW9,GADD45GIP1,GCDH,HOOK2,JUNB,KLF1,LYL1,MAN2B1,MAST1,NFIX,PRDX2,RAD23A,RNASEH2A,RTBDN,SNORD41,SYCE2,TNPO2,TRMT1,WDR83,WDR83OS,ZNF490,ZNF564,ZNF791 chr19 12638627 12647646 Gain or loss Breast cancer - 20668451 ZNF564 chr19 12638627 12647646 Gain or loss Cancer - 20668451 ZNF564 chr19 12638627 12647646 Gain or loss Lung cancer - 20668451 ZNF564 chr19 12638627 12647646 Gain or loss Ovarian cancer - 20668451 ZNF564 chr19 12638627 12647646 Gain or loss Pancreas cancer - 20668451 ZNF564 chr19 12638627 12647646 Gain or loss Prostate cancer - 20668451 ZNF564 chr19 12639885 12643170 Gain and loss Pancreatic cancer SNP array 17952125 ZNF564 chr19 12639887 12641449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12639887 12641449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12639907 12640414 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF564 chr19 12641517 12647645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12641517 12647645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12641584 12647645 Gain and loss Pancreatic cancer SNP array 17952125 ZNF564 chr19 12645066 12647612 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF564 chr19 12647534 12653677 Gain and loss Pancreatic cancer SNP array 17952125 ZNF564 chr19 12647536 12653522 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF564 chr19 12647537 12653682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12647537 12653682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 1264798 4426322 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ADAMTSL5,ADAT3,AES,AMH,ANKRD24,AP3D1,APBA3,APC2,ATCAY,ATP8B3,BTBD2,C19orf24,C19orf25,C19orf35,C19orf71,C19orf77,CACTIN,CACTIN-AS1,CCDC94,CELF5,CHAF1A,CIRBP,CIRBP-AS1,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DIRAS1,DOHH,DOT1L,EBI3,EEF2,EFNA2,FAM108A1,FSD1,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,HMG20B,IZUMO4,JSRP1,KLF16,LINGO3,LMNB2,LOC100288123,LSM7,MAP2K2,MATK,MBD3,MEX3D,MFSD12,MIR1227,MIR1909,MIR4321,MIR637,MKNK2,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFS7,NFIC,NMRK2,OAZ1,ONECUT3,PCSK4,PIAS4,PIP5K1C,PLEKHJ1,PLK5,RAX2,REEP6,REXO1,RPS15,S1PR4,SCAMP4,SF3A2,SGTA,SH3GL1,SHD,SIRT6,SLC39A3,SNORD37,SPPL2B,STAP2,TBXA2R,TCF3,THOP1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,UQCR11,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77 chr19 1 26500000 Gain Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 26500000 Gain Prostate cancer Array CGH 16573809 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 26500000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 12660731 12668457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12660731 12668457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF564 chr19 12660737 12668454 Gain and loss Pancreatic cancer SNP array 17952125 ZNF564 chr19 12660756 12668379 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF564 chr19 1 26700000 Gain Metanephric adenoma Oligo aCGH 20802469 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 12671017 12694078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF490 chr19 12671017 12694078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF490 chr19 12671017 12695740 Gain and loss Pancreatic cancer SNP array 17952125 ZNF490 chr19 12671568 12695172 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF490 chr19 12673342 12673442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 12675412 12675484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12676509 12676767 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12676509 12676767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12678263 12678332 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12678263 12678332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12702455 12706529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF490 chr19 12702455 12706529 Gain and loss Pancreatic cancer SNP array 17952125 ZNF490 chr19 12702455 12706529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF490 chr19 12702580 12706471 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF490 chr19 12709306 12720137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF490 chr19 12709306 12720137 Gain and loss Pancreatic cancer SNP array 17952125 ZNF490 chr19 12709306 12720137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF490 chr19 12709344 12719395 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF490 chr19 1271267 1950204 Loss or gain Normal 244K array 17666407 ADAMTSL5,ADAT3,APC2,ATP8B3,C19orf24,C19orf25,CIRBP,CSNK1G2,DAZAP1,EFNA2,FAM108A1,GAMT,KLF16,LOC100288123,MBD3,MEX3D,MIR1909,MUM1,NDUFS7,ONECUT3,PCSK4,PLK5,REEP6,REXO1,RPS15,SCAMP4,TCF3,UQCR11 chr19 12713504 12715220 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF490 chr19 12724407 12730269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF791 chr19 12724407 12730269 Gain and loss Pancreatic cancer SNP array 17952125 ZNF791 chr19 12724407 12730269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF791 chr19 12734817 12747434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF791 chr19 12734817 12747434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF791 chr19 12734818 12747357 Gain and loss Pancreatic cancer SNP array 17952125 ZNF791 chr19 12735244 14655263 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ASF1B,ASNA1,BEST2,C19orf43,C19orf53,C19orf57,CACNA1A,CALR,CC2D1A,CCDC130,CD97,DAND5,DCAF15,DDX39A,DHPS,DNAJB1,DNASE2,FARSA,FBXW9,GADD45GIP1,GCDH,GIPC1,HOOK2,IER2,IL27RA,JUNB,KLF1,LOC100507373,LOC113230,LOC284454,LPHN1,LYL1,MAN2B1,MAST1,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NACC1,NANOS3,NFIX,PALM3,PKN1,PODNL1,PRDX2,PRKACA,PTGER1,RAD23A,RFX1,RLN3,RNASEH2A,RTBDN,SAMD1,SNORD41,STX10,SYCE2,TECR,TNPO2,TRMT1,WDR83,WDR83OS,ZNF791,ZSWIM4 chr19 12756147 12757451 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MAN2B1 chr19 12763285 12766248 Gain or loss Breast cancer - 20668451 MAN2B1 chr19 12763285 12766248 Gain or loss Cancer - 20668451 MAN2B1 chr19 12763285 12766248 Gain or loss Lung cancer - 20668451 MAN2B1 chr19 12763285 12766248 Gain or loss Ovarian cancer - 20668451 MAN2B1 chr19 12763285 12766248 Gain or loss Pancreas cancer - 20668451 MAN2B1 chr19 12763285 12766248 Gain or loss Prostate cancer - 20668451 MAN2B1 chr19 12763310 12765124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAN2B1 chr19 12763310 12765124 Gain and loss Pancreatic cancer SNP array 17952125 MAN2B1 chr19 12763310 12765124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN2B1 chr19 12768634 12773694 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAN2B1 chr19 12768634 12773694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAN2B1 chr19 12768635 12773694 Gain and loss Pancreatic cancer SNP array 17952125 MAN2B1 chr19 12778428 12785462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR83,WDR83OS chr19 12778428 12785462 Gain and loss Pancreatic cancer SNP array 17952125 WDR83,WDR83OS chr19 12778428 12785462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR83,WDR83OS chr19 12797297 12807230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXW9 chr19 12797297 12807230 Gain and loss Pancreatic cancer SNP array 17952125 FBXW9 chr19 12797297 12807230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXW9 chr19 12800001 12828397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXW9,SNORD41,TNPO2 chr19 12803479 12835472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXW9,SNORD41,TNPO2 chr19 12810348 12846765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf43,SNORD41,TNPO2 chr19 12810348 12846765 Gain and loss Pancreatic cancer SNP array 17952125 C19orf43,SNORD41,TNPO2 chr19 12810348 12846765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf43,SNORD41,TNPO2 chr19 12847023 12853335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASNA1 chr19 12847023 12853335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASNA1 chr19 12847025 12853282 Gain and loss Pancreatic cancer SNP array 17952125 ASNA1 chr19 1 28500000 Deletion Ewing's sarcoma CGH(Reference) 21437220 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Gain Glioblastoma multiforme aCGH 21080181 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Gain Medulloblastoma SNP arrays 21979893 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Gain Oligodendroglial tumors CGH 17285580 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Gain or loss Endometrial cancer CGH 22040021 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Gain ovarian endometriomas metaphase CGH 16273235 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Loss Breast cancer aCGH 21264507 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Loss Esophageal squamous carcinoma CGH 21637470 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 28500000 Loss Glioblastoma multiforme CGH 17387387 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 12856236 12859017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASNA1 chr19 12856236 12859017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASNA1 chr19 12856239 12859017 Gain and loss Pancreatic cancer SNP array 17952125 ASNA1 chr19 12862974 12871782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BEST2 chr19 12862974 12871782 Gain and loss Pancreatic cancer SNP array 17952125 BEST2 chr19 12862974 12871782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEST2 chr19 12865974 12866661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BEST2 chr19 12870894 12891071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HOOK2 chr19 12870894 12891071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HOOK2 chr19 12870896 12890150 Gain and loss Pancreatic cancer SNP array 17952125 HOOK2 chr19 12874214 12914330 Gain Normal Birdsuite, version 1.5.2 22087296 HOOK2,JUNB,PRDX2 chr19 12883843 12884256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HOOK2 chr19 1288398 1288463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFNA2 chr19 12894283 12905558 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 JUNB chr19 12894284 12905558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JUNB chr19 12894284 12905558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JUNB chr19 12894294 12905529 Gain and loss Pancreatic cancer SNP array 17952125 JUNB chr19 12902190 12902249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 12903242 12903314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JUNB chr19 12910422 12916303 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 PRDX2 chr19 12910423 12916303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRDX2 chr19 12910423 12916303 Gain and loss Pancreatic cancer SNP array 17952125 PRDX2 chr19 12910423 12916303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDX2 chr19 12917654 12925448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNASEH2A chr19 12917654 12925448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNASEH2A chr19 12917654 12925455 Gain and loss Pancreatic cancer SNP array 17952125 RNASEH2A chr19 12925972 12929050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12925972 12929050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 12925972 12929050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12930669 12930761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 12936973 12946567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTBDN chr19 12936973 12946567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTBDN chr19 12941432 12946567 Gain and loss Pancreatic cancer SNP array 17952125 RTBDN chr19 12961208 12961816 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 MAST1 chr19 12967584 13070610 Copy number Autism exome sequencing 22495311 CALR,DNASE2,FARSA,GADD45GIP1,GCDH,KLF1,MAST1,RAD23A,SYCE2 chr19 12967584 13070610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALR,DNASE2,FARSA,GADD45GIP1,GCDH,KLF1,MAST1,RAD23A,SYCE2 chr19 12967584 13070610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALR,DNASE2,FARSA,GADD45GIP1,GCDH,KLF1,MAST1,RAD23A,SYCE2 chr19 12972176 13004525 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNASE2,GCDH,KLF1,MAST1 chr19 12983113 14103663 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 C19orf53,C19orf57,CACNA1A,CALR,CC2D1A,CCDC130,DAND5,DCAF15,DNASE2,FARSA,GADD45GIP1,GCDH,IER2,KLF1,LOC284454,LYL1,MAST1,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MRI1,NACC1,NANOS3,NFIX,PODNL1,RAD23A,RFX1,STX10,SYCE2,TRMT1,ZSWIM4 chr19 12996160 12996260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF1 chr19 12996459 13070609 Gain and loss Pancreatic cancer SNP array 17952125 CALR,FARSA,GADD45GIP1,GCDH,KLF1,RAD23A,SYCE2 chr19 1300175 1329427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFNA2 chr19 1300175 1329427 Gain and loss Pancreatic cancer SNP array 17952125 EFNA2 chr19 1300175 1329427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFNA2 chr19 1 30200000 Gain Cervical cancer array CGH 21063398 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf12,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100505835,LOC100507373,LOC113230,LOC148145,LOC284385,LOC284395,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHF1,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,POP4,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,UQCRFS1,USE1,USHBP1,VAV1,VMAC,VSTM2B,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 30200000 Loss Cervical cancer array CGH 21063398 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf12,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HAVCR1P1,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00662,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100505835,LOC100507373,LOC113230,LOC148145,LOC284385,LOC284395,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHF1,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,POP4,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RPSAP58,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,UQCRFS1,USE1,USHBP1,VAV1,VMAC,VSTM2B,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 1 306931 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 FAM138A,FAM138F,FLJ45445,MIER2,OR4F17,PPAP2C,WASH5P chr19 13070846 13074681 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 13070846 13074681 Gain or loss Cancer - 20668451 NOT_FOUND chr19 13070846 13074681 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 13070846 13074681 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 13070846 13074681 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 13070846 13074681 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 13070847 13074681 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr19 13070848 13074681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13070848 13074681 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13070848 13074681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13076716 13088522 Gain and loss Pancreatic cancer SNP array 17952125 DAND5 chr19 13076721 13088563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAND5 chr19 13076721 13088563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAND5 chr19 13076853 13088417 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 DAND5 chr19 13090109 13112955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFIX chr19 13090109 13112955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIX chr1 91309493 91309585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 13106997 13112955 Gain and loss Pancreatic cancer SNP array 17952125 NFIX chr19 13108094 13112537 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NFIX chr19 13115 21944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13115873 13122160 Gain and loss Pancreatic cancer SNP array 17952125 NFIX chr19 13115892 13122076 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NFIX chr19 13115903 13122052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFIX chr19 13115903 13122052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIX chr19 13122281 13126718 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NFIX chr19 13122282 13126716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFIX chr19 13122282 13126716 Gain and loss Pancreatic cancer SNP array 17952125 NFIX chr19 13122282 13126716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIX chr19 13124659 13124705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIX chr19 13129721 13130692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIX chr19 13130128 13130680 Gain and loss Pancreatic cancer SNP array 17952125 NFIX chr19 13143667 13143742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIX chr19 13151524 13151609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIX chr19 13162196 13162529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFIX chr19 13166657 13166965 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13166988 13167149 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13167162 13167358 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13167359 13167630 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13168216 13168522 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13168531 13168758 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13168759 13169066 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13169067 13169157 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13169165 13169471 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13169651 13169941 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13171147 13171447 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13171453 13171759 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13171847 13172153 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13172163 13172289 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13172298 13172623 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13172654 13172818 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13172831 13173131 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13173135 13173429 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13175036 13175203 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13175204 13175513 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13175564 13175781 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13175810 13176105 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13176596 13176896 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13176912 13177025 Deletion Episodic ataxia syndrome MLPA 21927611 NFIX chr19 13178256 13478038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1A,IER2,LYL1,NACC1,NFIX,STX10,TRMT1 chr19 13178256 13478038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1A,IER2,LYL1,NACC1,NFIX,STX10,TRMT1 chr19 13178308 13478038 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1A,IER2,LYL1,NACC1,NFIX,STX10,TRMT1 chr19 13181979 13182079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIX chr19 13201250 13201350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFIX chr19 13201484 13884084 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CACNA1A,CCDC130,IER2,LYL1,MRI1,NACC1,NFIX,STX10,TRMT1 chr19 13206601 13535500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1A,IER2,LYL1,NACC1,NFIX,STX10,TRMT1 chr19 13219501 13727000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1A,IER2,NACC1,STX10,TRMT1 chr19 13248371 13248996 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NACC1 chr19 13294348 13320068 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CACNA1A chr19 1331124 1495933 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 APC2,C19orf25,DAZAP1,GAMT,MUM1,NDUFS7,PCSK4,REEP6,RPS15 chr19 1331124 1495933 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APC2,C19orf25,DAZAP1,GAMT,MUM1,NDUFS7,PCSK4,REEP6,RPS15 chr19 13340551 13340869 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNA1A chr19 1334883 1346487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 1334906 1346583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1334906 1346583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13375049 13375124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1A chr19 1340082 1340533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 1340082 1340533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13413673 13451412 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CACNA1A chr1 9134314 9134423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13450149 13450181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1A chr19 1348089 1352552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1348089 1352552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 1348089 1352552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13516745 13516845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1A chr19 135252 149606 Copy number Autism exome sequencing 22495311 NOT_FOUND chr19 13544881 14465154 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ASF1B,C19orf53,C19orf57,CACNA1A,CC2D1A,CCDC130,DCAF15,IL27RA,LOC100507373,LOC113230,LOC284454,LPHN1,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MRI1,NANOS3,PALM3,PODNL1,PRKACA,RFX1,RLN3,SAMD1,ZSWIM4 chr19 1358584 1386683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MUM1,NDUFS7 chr19 1358584 1386683 Gain and loss Pancreatic cancer SNP array 17952125 MUM1,NDUFS7 chr19 1358584 1386683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUM1,NDUFS7 chr19 13585920 13751837 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CACNA1A chr19 1359501 1363500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MUM1 chr19 13600076 13600201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNA1A chr19 13600081 13600206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNA1A chr19 13615667 15607804 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CACNA1A,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,WIZ,ZNF333,ZSWIM4 chr19 13630389 13631120 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 13634901 13639600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 1363501 1697500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTSL5,APC2,C19orf25,DAZAP1,GAMT,MBD3,MEX3D,MUM1,NDUFS7,PCSK4,PLK5,REEP6,RPS15,TCF3,UQCR11 chr19 13636657 13637819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 13636994 13637717 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 13719720 13735106 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13719749 13735103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13719749 13735103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13723435 13735101 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 13727001 14218500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C19orf53,C19orf57,CC2D1A,CCDC130,DCAF15,IL27RA,LOC113230,LOC284454,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MRI1,NANOS3,PALM3,PODNL1,PRKACA,RFX1,RLN3,SAMD1,ZSWIM4 chr19 13728723 13765201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13736337 13746096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13736337 13746096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13736360 13746096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13743942 13746141 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr19 13746256 13750586 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 13746257 13750582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13746257 13750582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13746282 13750275 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13746303 13750255 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 13751884 13761972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13767274 13804044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13767274 13804044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13767274 13804044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13780877 13837951 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr19 13800000 16100000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Copy number Normal - 21701786 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Gain Ovarian cancer Affymetrix 20844748 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletion anteverted nares aCGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletion Bone size aCGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletion ear malformations aCGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletion Hearing loss aCGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletion Mental retardation aCGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletion psychomotor delay aCGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletions anteverted nares Array-CGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletions Bone size Array-CGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletions ear malformations Array-CGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletions Hearing loss Array-CGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletions Mental retardation Array-CGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 16100000 Microdeletions psychomotor delay Array-CGH 20648052 AKAP8,AKAP8L,ASF1B,BRD4,C19orf53,C19orf57,CASP14,CC2D1A,CCDC105,CCDC130,CD97,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,GIPC1,IL27RA,ILVBL,LOC100507373,LOC113230,LOC284454,LPHN1,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR639,MRI1,NANOS3,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,UCA1,WIZ,ZNF333,ZSWIM4 chr19 13800000 19800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ABHD8,AKAP8,AKAP8L,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ASF1B,ATP13A1,B3GNT3,BABAM1,BRD4,BST2,C19orf42,C19orf44,C19orf53,C19orf57,C19orf60,CALR3,CASP14,CC2D1A,CCDC105,CCDC124,CCDC130,CD97,CERS1,CHERP,CIB3,CILP2,CLEC17A,COMP,COPE,CPAMD8,CRLF1,CRTC1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDA1,DDX39A,DDX49,DNAJB1,ELL,EMR2,EMR3,EPHX3,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,FLJ25328,GATAD2A,GDF1,GDF15,GIPC1,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HSH2D,IFI30,IL12RB1,IL27RA,ILVBL,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00661,LOC100507373,LOC113230,LOC284454,LOC729966,LPAR2,LPHN1,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR639,MPV17L2,MRI1,MRPL34,MYO9B,NANOS3,NCAN,NDUFA13,NDUFB7,NOTCH3,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PBX4,PDE4C,PGLS,PGLYRP2,PGPEP1,PIK3R2,PKN1,PLVAP,PODNL1,PRKACA,PTGER1,RAB3A,RAB8A,RASAL3,RFX1,RFXANK,RLN3,RPL18A,SAMD1,SIN3B,SLC1A6,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,SYDE1,TECR,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TPM4,TSSK6,UBA52,UCA1,UNC13A,UPF1,USE1,USHBP1,WIZ,YJEFN3,ZNF101,ZNF333,ZSWIM4 chr19 13808101 13808173 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 13808101 13808173 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13808101 13808173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13808254 13808331 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 13808254 13808331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13808254 13808331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13808401 13808473 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 13808401 13808473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13808401 13808473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13811526 13811921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13820000 14070000 Gain Breast cancer aCGH 21509527 C19orf53,C19orf57,CC2D1A,CCDC130,DCAF15,LOC284454,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MRI1,NANOS3,PODNL1,ZSWIM4 chr19 13820415 13820543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13846513 13846622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13846513 13846622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13846689 13846825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13846689 13846825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13848950 13852571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13848950 13852571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 13849063 13852317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 13854168 13877909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC130,MRI1 chr19 13854168 13877909 Gain and loss Pancreatic cancer SNP array 17952125 CCDC130,MRI1 chr19 13854168 13877909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC130,MRI1 chr19 13878014 13902691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf53,MRI1 chr19 13878014 13902691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf53,MRI1 chr19 13878014 13912535 Gain and loss Pancreatic cancer SNP array 17952125 C19orf53,MRI1,ZSWIM4 chr19 1389363 1391492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDUFS7 chr19 1389363 1391492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFS7 chr19 1389379 1391492 Gain and loss Pancreatic cancer SNP array 17952125 NDUFS7 chr19 13900000 14000000 Copy number Effusion lymphoma Real-time QPCR 18079361 C19orf57,LOC284454,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,NANOS3,ZSWIM4 chr19 13900000 20000000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 ABHD8,AKAP8,AKAP8L,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ASF1B,ATP13A1,B3GNT3,BABAM1,BRD4,BST2,C19orf42,C19orf44,C19orf57,C19orf60,CALR3,CASP14,CC2D1A,CCDC105,CCDC124,CD97,CERS1,CHERP,CIB3,CILP2,CLEC17A,COMP,COPE,CPAMD8,CRLF1,CRTC1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDA1,DDX39A,DDX49,DNAJB1,ELL,EMR2,EMR3,EPHX3,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,FLJ25328,GATAD2A,GDF1,GDF15,GIPC1,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HSH2D,IFI30,IL12RB1,IL27RA,ILVBL,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00661,LINC00663,LOC100507373,LOC113230,LOC284454,LOC729966,LPAR2,LPHN1,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1470,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR639,MPV17L2,MRPL34,MYO9B,NANOS3,NCAN,NDUFA13,NDUFB7,NOTCH3,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PBX4,PDE4C,PGLS,PGLYRP2,PGPEP1,PIK3R2,PKN1,PLVAP,PODNL1,PRKACA,PTGER1,RAB3A,RAB8A,RASAL3,RFX1,RFXANK,RLN3,RPL18A,SAMD1,SIN3B,SLC1A6,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,SYDE1,TECR,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TPM4,TSSK6,UBA52,UCA1,UNC13A,UPF1,USE1,USHBP1,WIZ,YJEFN3,ZNF101,ZNF14,ZNF253,ZNF333,ZNF506,ZSWIM4 chr19 1390292 13878052 Copy number Autism exome sequencing 22495311 ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARRDC5,ASNA1,ATCAY,ATG4D,ATP8B3,BEST2,BTBD2,C19orf10,C19orf25,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf59,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC37,CDKN2D,CELF5,CERS4,CHAF1A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAND5,DAPK3,DAZAP1,DENND1C,DHPS,DIRAS1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FLJ22184,FLJ25758,FSD1,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GIPC3,GNA11,GNA15,GNG7,GPR108,GTF2F1,HDGFRP2,HMG20B,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KLF1,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LRG1,LRRC8E,LSM7,LYL1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MEX3D,MFSD12,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3940,MIR4321,MIR4322,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRI1,MRPL4,MRPL54,MUC16,MYO1F,NACC1,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NFIX,NMRK2,NRTN,OAZ1,OLFM2,ONECUT3,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,PRR22,PSPN,PTPRS,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNASEH2A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TCF3,TGFBR3L,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 13904167 13910289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM4 chr19 13904167 13910289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM4 chr19 13904167 13925193 Gain and loss Pancreatic cancer SNP array 17952125 ZSWIM4 chr19 1391838 1392937 Gain and loss Pancreatic cancer SNP array 17952125 NDUFS7 chr19 13924304 13933254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM4 chr19 13924304 13933254 Gain and loss Pancreatic cancer SNP array 17952125 ZSWIM4 chr19 13924304 13933254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM4 chr19 13933200 13933782 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZSWIM4 chr19 13933353 13978097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284454,MIR23A,MIR24-2,MIR27A,ZSWIM4 chr19 13933353 13978097 Gain and loss Pancreatic cancer SNP array 17952125 LOC284454,MIR23A,MIR24-2,MIR27A,ZSWIM4 chr19 13933353 13978097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284454,MIR23A,MIR24-2,MIR27A,ZSWIM4 chr19 1397301 1424237 Gain and loss Pancreatic cancer SNP array 17952125 DAZAP1,GAMT chr1 91397336 91397618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF644 chr1 91397360 91397642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF644 chr19 13998501 14003367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf57 chr19 13998501 14003367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf57 chr19 14000000 16300000 Amplification Ovarian cancer Affymetrix 10K arrays 16778208 AKAP8,AKAP8L,ASF1B,BRD4,C19orf57,CASP14,CC2D1A,CCDC105,CD97,CIB3,CLEC17A,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DCAF15,DDX39A,DNAJB1,EMR2,EMR3,EPHX3,FAM32A,FLJ25328,GIPC1,HSH2D,IL27RA,ILVBL,LINC00661,LOC100507373,LOC113230,LPHN1,MIR1470,MIR639,NDUFB7,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PALM3,PGLYRP2,PKN1,PODNL1,PRKACA,PTGER1,RAB8A,RASAL3,RFX1,RLN3,SAMD1,SLC1A6,SYDE1,TECR,TPM4,UCA1,WIZ,ZNF333 chr19 14000017 14002783 Gain and loss Pancreatic cancer SNP array 17952125 C19orf57 chr19 14003262 14025026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf57,CC2D1A chr19 14003262 14025026 Gain and loss Pancreatic cancer SNP array 17952125 C19orf57,CC2D1A chr19 14003262 14025026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf57,CC2D1A chr19 1401148 1424243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAZAP1,GAMT chr19 1401148 1424243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAZAP1,GAMT chr19 14025945 14027264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CC2D1A chr19 14026191 14027264 Gain and loss Pancreatic cancer SNP array 17952125 CC2D1A chr19 14042198 14043059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PODNL1 chr19 14042210 14043052 Gain and loss Pancreatic cancer SNP array 17952125 PODNL1 chr19 14044821 14046873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PODNL1 chr19 14044821 14046873 Gain and loss Pancreatic cancer SNP array 17952125 PODNL1 chr19 14044821 14046873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PODNL1 chr19 14053646 14057181 Gain and loss Pancreatic cancer SNP array 17952125 PODNL1 chr19 14053646 14057205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PODNL1 chr19 14056712 14056812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PODNL1 chr19 14059676 14061911 Gain and loss Pancreatic cancer SNP array 17952125 PODNL1 chr19 14059676 14062885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PODNL1 chr19 14059676 14062885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PODNL1 chr19 14063439 14063514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCAF15,PODNL1 chr19 14063506 14089559 Gain or loss Breast cancer - 20668451 DCAF15,PODNL1,RFX1 chr19 14063506 14089559 Gain or loss Cancer - 20668451 DCAF15,PODNL1,RFX1 chr19 14063506 14089559 Gain or loss Lung cancer - 20668451 DCAF15,PODNL1,RFX1 chr19 14063506 14089559 Gain or loss Ovarian cancer - 20668451 DCAF15,PODNL1,RFX1 chr19 14063506 14089559 Gain or loss Pancreas cancer - 20668451 DCAF15,PODNL1,RFX1 chr19 14063506 14089559 Gain or loss Prostate cancer - 20668451 DCAF15,PODNL1,RFX1 chr19 14063509 14089559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF15,PODNL1,RFX1 chr19 14063509 14089559 Gain and loss Pancreatic cancer SNP array 17952125 DCAF15,PODNL1,RFX1 chr19 14063509 14089559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF15,PODNL1,RFX1 chr19 14086383 14086483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RFX1 chr19 14091322 14108440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RFX1 chr19 14091322 14108440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RFX1 chr19 14091343 14108429 Gain and loss Pancreatic cancer SNP array 17952125 RFX1 chr19 1410060 1410150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAZAP1 chr19 14119547 14177972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL27RA,PALM3,RLN3 chr19 14119547 14177972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL27RA,PALM3,RLN3 chr19 14119548 14177997 Gain or loss Breast cancer - 20668451 IL27RA,PALM3,RLN3 chr19 14119548 14177997 Gain or loss Cancer - 20668451 IL27RA,PALM3,RLN3 chr19 14119548 14177997 Gain or loss Lung cancer - 20668451 IL27RA,PALM3,RLN3 chr19 14119548 14177997 Gain or loss Ovarian cancer - 20668451 IL27RA,PALM3,RLN3 chr19 14119548 14177997 Gain or loss Pancreas cancer - 20668451 IL27RA,PALM3,RLN3 chr19 14119548 14177997 Gain or loss Prostate cancer - 20668451 IL27RA,PALM3,RLN3 chr19 14120677 14121282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14121750 14177982 Gain and loss Pancreatic cancer SNP array 17952125 IL27RA,PALM3,RLN3 chr19 14123914 14156934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL27RA,RLN3 chr19 14184864 14185133 Gain and loss Pancreatic cancer SNP array 17952125 LOC113230 chr19 14184864 14185133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC113230 chr19 14184864 14185141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC113230 chr19 14203000 14230951 Duplication Non-syndromic sensorineural hearing loss References 19212409 ASF1B,PRKACA chr19 14218501 14220000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRKACA chr19 14220001 14567000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASF1B,CD97,DDX39A,LOC100507373,LPHN1,PKN1,PRKACA chr19 14246734 14391382 Loss Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 ASF1B,LOC100507373,LPHN1 chr1 9142502 9661749 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 GPR157,H6PD,MIR34A,SLC25A33,SPSB1,TMEM201 chr19 1425814 1430198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAZAP1 chr19 1425814 1430211 Gain and loss Pancreatic cancer SNP array 17952125 DAZAP1 chr1 91426536 91426633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF644 chr19 1428461 1528461 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADAMTSL5,APC2,C19orf25,DAZAP1,PCSK4,PLK5,REEP6,RPS15 chr19 1432427 1441407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAZAP1,RPS15 chr19 1432427 1441407 Gain and loss Pancreatic cancer SNP array 17952125 DAZAP1,RPS15 chr19 1432427 1441407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAZAP1,RPS15 chr19 14353212 14380535 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 14353212 14380535 Gain or loss Cancer - 20668451 NOT_FOUND chr19 14353212 14380535 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 14353212 14380535 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 14353212 14380535 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 14353212 14380535 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 14353213 14380531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14353213 14380531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14353266 14380536 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14374781 14523408 Loss Normal Birdsuite, version 1.5.2 22087296 CD97,DDX39A chr19 14380633 14391171 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14380633 14391171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 91438343 91530215 Gain and loss Pancreatic cancer SNP array 17952125 ZNF644 chr1 91439203 91439300 Gain and loss Pancreatic cancer SNP array 17952125 ZNF644 chr19 14405165 14443679 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 14405165 14443679 Gain or loss Cancer - 20668451 NOT_FOUND chr19 14405165 14443679 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 14405165 14443679 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 14405165 14443679 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 14405165 14443679 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 14405165 14443679 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 14405166 14443678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14405166 14443678 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14405166 14443678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1442023 1448926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1442023 1448926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1442165 1448923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14444277 14447174 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 14444277 14447174 Gain or loss Cancer - 20668451 NOT_FOUND chr19 14444277 14447174 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 14444277 14447174 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 14444277 14447174 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 14444277 14447174 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 14444279 14447174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14444279 14447174 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14444279 14447174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14449572 14467944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14449572 14467944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14449572 14467944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1445208 1445294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 14486582 14490201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14486582 14490201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14486582 14490201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14486600 14490026 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 14501355 14501452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD97 chr19 14501382 14537791 Gain and loss Pancreatic cancer SNP array 17952125 CD97,DDX39A chr19 14501382 14537791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD97,DDX39A chr19 14507227 14507261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD97 chr19 14537892 14543886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14537892 14543886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14537892 14543886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14537895 14543869 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 14550995 14551086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKN1 chr19 14554891 14582969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKN1 chr19 14554891 14582969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN1 chr19 14554896 14585442 Gain and loss Pancreatic cancer SNP array 17952125 PKN1,PTGER1 chr19 14555907 14556207 Gain and loss Pancreatic cancer SNP array 17952125 PKN1 chr19 14555907 14556207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN1 chr19 14555907 14556210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN1 chr19 14560170 14560468 Gain and loss Pancreatic cancer SNP array 17952125 PKN1 chr19 14560170 14560468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKN1 chr19 1456023 1464019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APC2 chr19 1456023 1464019 Gain and loss Pancreatic cancer SNP array 17952125 APC2 chr19 1456023 1464019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APC2 chr19 14567001 14736000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC17A,DNAJB1,EMR3,GIPC1,MIR639,NDUFB7,PKN1,PTGER1,TECR chr19 14567837 14567882 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 PKN1 chr19 14570918 14646810 Gain and loss Pancreatic cancer SNP array 17952125 DNAJB1,GIPC1,MIR639,PKN1,PTGER1,TECR chr19 14585814 14585884 Gain and loss Pancreatic cancer SNP array 17952125 PTGER1 chr19 14585814 14585884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTGER1 chr19 14591050 14646730 Gain or loss Breast cancer - 20668451 DNAJB1,GIPC1,MIR639,TECR chr19 14591050 14646730 Gain or loss Cancer - 20668451 DNAJB1,GIPC1,MIR639,TECR chr19 14591050 14646730 Gain or loss Lung cancer - 20668451 DNAJB1,GIPC1,MIR639,TECR chr19 14591050 14646730 Gain or loss Ovarian cancer - 20668451 DNAJB1,GIPC1,MIR639,TECR chr19 14591050 14646730 Gain or loss Pancreas cancer - 20668451 DNAJB1,GIPC1,MIR639,TECR chr19 14591050 14646730 Gain or loss Prostate cancer - 20668451 DNAJB1,GIPC1,MIR639,TECR chr19 14591052 14646730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJB1,GIPC1,MIR639,TECR chr19 14591052 14646730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJB1,GIPC1,MIR639,TECR chr19 14592794 14595049 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GIPC1 chr19 14593330 14595126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GIPC1 chr1 9145993 9146102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14603924 14801001 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CLEC17A,DNAJB1,EMR3,GIPC1,MIR639,NDUFB7,TECR,ZNF333 chr19 14661870 14692772 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NDUFB7,TECR chr19 14661870 14692772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDUFB7,TECR chr19 14661870 14692772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFB7,TECR chr19 14661913 14693708 Gain and loss Pancreatic cancer SNP array 17952125 NDUFB7,TECR chr1 9146813 16679690 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AADACL3,AADACL4,AGMAT,AGTRAP,ANGPTL7,APITD1,APITD1-CORT,ARHGEF19,C1orf126,C1orf127,C1orf158,C1orf200,C1orf64,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC16,DRAXIN,EFHD2,EPHA2,EXOSC10,FAM131C,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,GPR157,H6PD,HNRNPCL1,HSPB7,KAZN,KIAA2013,KIF1B,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PDPN,PEX14,PGD,PIK3CD,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RSC1A1,RSG1,SLC25A33,SLC25A34,SNORA59A,SNORA59B,SPEN,SPSB1,SRM,TARDBP,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,UQCRHL,VPS13D,ZBTB17 chr19 14695747 14696121 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLEC17A chr19 14704204 14750353 Copy number Lung cancer - 20668451 CLEC17A,EMR3 chr19 14704204 14750353 Gain or loss Breast cancer - 20668451 CLEC17A,EMR3 chr19 14704204 14750353 Gain or loss Cancer - 20668451 CLEC17A,EMR3 chr19 14704204 14750353 Gain or loss Lung cancer - 20668451 CLEC17A,EMR3 chr19 14704204 14750353 Gain or loss Ovarian cancer - 20668451 CLEC17A,EMR3 chr19 14704204 14750353 Gain or loss Pancreas cancer - 20668451 CLEC17A,EMR3 chr19 14704204 14750353 Gain or loss Prostate cancer - 20668451 CLEC17A,EMR3 chr19 14704205 14750353 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLEC17A,EMR3 chr19 14704205 14750353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC17A,EMR3 chr19 14704205 14750353 Gain and loss Pancreatic cancer SNP array 17952125 CLEC17A,EMR3 chr19 14704205 14750353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC17A,EMR3 chr19 14736001 14759000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMR3 chr19 1475073 1486455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf25,PCSK4 chr19 1475073 1486455 Gain and loss Pancreatic cancer SNP array 17952125 C19orf25,PCSK4 chr19 1475073 1486455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf25,PCSK4 chr19 14760644 15064029 Deletion Autism Array CGH 22102821 EMR2,EMR3,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,SLC1A6,ZNF333 chr19 14770986 14771948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EMR3 chr19 14770986 14771948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMR3 chr19 14770986 14771948 Gain and loss Pancreatic cancer SNP array 17952125 EMR3 chr19 14770986 14771948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR3 chr19 14771488 14891084 Copy number Lung cancer paired-end sequencing 18438408 EMR2,EMR3,ZNF333 chr19 14775175 14775275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EMR3 chr19 14799094 14800053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 14799094 14800053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14799094 14800053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14812760 14813689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF333 chr19 14812760 14813689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF333 chr19 14812760 14813689 Gain and loss Pancreatic cancer SNP array 17952125 ZNF333 chr19 14812760 14813689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF333 chr19 1481813 1481912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCSK4 chr1 914833 920104 Gain and loss Pancreatic cancer SNP array 17952125 C1orf170 chr19 14835598 14836527 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 14835598 14836527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14835598 14836527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14852238 14853167 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EMR2 chr19 14852238 14853167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMR2 chr19 14852238 14853167 Gain and loss Pancreatic cancer SNP array 17952125 EMR2 chr19 14852238 14853167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR2 chr19 14875512 14875985 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EMR2 chr19 14875512 14875985 Gain and loss Pancreatic cancer SNP array 17952125 EMR2 chr19 14875512 14875985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR2 chr19 14888228 14888679 Gain and loss Pancreatic cancer SNP array 17952125 EMR2 chr19 14888228 14888679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR2 chr19 14892834 14923223 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR7C1 chr19 14894291 14923223 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR7C1 chr19 14899023 14899872 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 14899023 14899872 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14899023 14899872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14902303 14902453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 14906081 24291261 Copy number Lung cancer paired-end sequencing 18438408 ABHD8,AKAP8,AKAP8L,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ATP13A1,B3GNT3,BABAM1,BRD4,BST2,C19orf42,C19orf44,C19orf60,CALR3,CASP14,CCDC105,CCDC124,CERS1,CHERP,CIB3,CILP2,COMP,COPE,CPAMD8,CRLF1,CRTC1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DDA1,DDX49,ELL,EPHX3,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,FLJ25328,GATAD2A,GDF1,GDF15,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HSH2D,IFI30,IL12RB1,ILVBL,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00661,LINC00663,LOC400680,LOC440518,LOC641367,LOC729966,LPAR2,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1270-1,MIR1270-2,MIR1470,MIR3188,MIR3189,MPV17L2,MRPL34,MYO9B,NCAN,NDUFA13,NOTCH3,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,PBX4,PDE4C,PGLS,PGLYRP2,PGPEP1,PIK3R2,PLVAP,RAB3A,RAB8A,RASAL3,RFXANK,RPL18A,RPSAP58,SIN3B,SLC1A6,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,SYDE1,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TPM4,TSSK6,UBA52,UCA1,UNC13A,UPF1,USE1,USHBP1,WIZ,YJEFN3,ZNF100,ZNF101,ZNF14,ZNF208,ZNF253,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF506,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 14906201 14912400 Deletion Glioma mate-paired sequence 20126413 OR7C1 chr19 14906620 14950627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR7A5,OR7C1 chr19 14907392 14910477 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OR7C1 chr19 14912001 14966500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR7A10,OR7A5 chr19 14913175 14914260 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 14913175 14914260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14913175 14914260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14913301 14914260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 14921991 14951505 Gain and loss Pancreatic cancer SNP array 17952125 OR7A5 chr19 14922007 14951505 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR7A5 chr19 14922007 14951505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR7A5 chr19 14922007 14951505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR7A5 chr19 14943896 14970202 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OR7A10 chr19 14957950 15120179 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 OR7A17,OR7C2,SLC1A6 chr19 14982001 15000000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR7A17 chr19 14982539 14995083 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR7A17 chr19 14982539 14995083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR7A17 chr19 14982539 14995083 Gain and loss Pancreatic cancer SNP array 17952125 OR7A17 chr19 14982539 14995083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR7A17 chr1 91498912 91643014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 91498912 91643014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 14991257 16005265 LOH Normal High-resolution SNP genotyping 21211785 AKAP8,AKAP8L,BRD4,CASP14,CCDC105,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,EPHX3,ILVBL,MIR1470,NOTCH3,OR10H1,OR10H2,OR10H3,OR10H5,OR1I1,OR7A17,OR7C2,PGLYRP2,RASAL3,SLC1A6,SYDE1,UCA1,WIZ chr1 91499770 91499869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15024015 15027900 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 15024015 15027900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15024015 15027900 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15024015 15027900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15024741 15024885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 150319079 150342609 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 150319079 150342609 Gain or loss Cancer - 20668451 NOT_FOUND chr19 150319079 150342609 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 150319079 150342609 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 150319079 150342609 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 150319079 150342609 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 1503846 4118236 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADAMTSL5,ADAT3,AES,AMH,AP3D1,APBA3,ATCAY,ATP8B3,BTBD2,C19orf35,C19orf71,C19orf77,CACTIN,CACTIN-AS1,CELF5,CSNK1G2,CSNK1G2-AS1,DAPK3,DIRAS1,DOHH,DOT1L,EEF2,FAM108A1,FZR1,GADD45B,GIPC3,GNA11,GNA15,GNG7,HMG20B,IZUMO4,JSRP1,KLF16,LINGO3,LMNB2,LOC100288123,LSM7,MAP2K2,MATK,MBD3,MEX3D,MFSD12,MIR1227,MIR1909,MIR4321,MIR637,MKNK2,MOB3A,MRPL54,NCLN,NFIC,NMRK2,OAZ1,ONECUT3,PIAS4,PIP5K1C,PLEKHJ1,PLK5,RAX2,REXO1,S1PR4,SCAMP4,SF3A2,SGTA,SLC39A3,SNORD37,SPPL2B,TBXA2R,TCF3,THOP1,TIMM13,TJP3,TLE2,TLE6,TMPRSS9,UQCR11,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77 chr19 1505669 1519057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTSL5 chr19 1505669 1519057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTSL5 chr19 1505672 1518650 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTSL5 chr19 15058877 15059944 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 15058877 15059944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15058877 15059944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15058877 15059944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 91505959 91506938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15061001 15080500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC1A6 chr19 15066473 15067982 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC1A6 chr19 15071170 15852598 LOH Normal High-resolution SNP genotyping 21211785 AKAP8,AKAP8L,BRD4,CASP14,CCDC105,CYP4F12,CYP4F22,CYP4F3,CYP4F8,EPHX3,ILVBL,MIR1470,NOTCH3,OR10H2,OR10H3,OR1I1,PGLYRP2,RASAL3,SLC1A6,SYDE1,WIZ chr19 1507604 1507685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTSL5 chr19 15079086 15079332 Gain Autism 1M Ailent CGH whole-genome array 21865298 SLC1A6 chr19 15079214 15086789 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC1A6 chr19 15079214 15086789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC1A6 chr19 15079214 15086789 Gain and loss Pancreatic cancer SNP array 17952125 SLC1A6 chr19 15079214 15086789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC1A6 chr19 15080501 15088000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC1A6 chr19 15086787 15097577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15086789 15097577 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 15086789 15097577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15086789 15097577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15088001 15096500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 15096501 15098000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 15112916 15113861 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15117026 15117122 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15117026 15117122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15131443 15172792 Copy number Lung cancer - 20668451 CASP14,CCDC105 chr19 15131443 15172792 Gain or loss Breast cancer - 20668451 CASP14,CCDC105 chr19 15131443 15172792 Gain or loss Cancer - 20668451 CASP14,CCDC105 chr19 15131443 15172792 Gain or loss Lung cancer - 20668451 CASP14,CCDC105 chr19 15131443 15172792 Gain or loss Ovarian cancer - 20668451 CASP14,CCDC105 chr19 15131443 15172792 Gain or loss Pancreas cancer - 20668451 CASP14,CCDC105 chr19 15131443 15172792 Gain or loss Prostate cancer - 20668451 CASP14,CCDC105 chr19 15131445 15172792 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CASP14,CCDC105 chr19 15131445 15172792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASP14,CCDC105 chr19 15131445 15172792 Gain and loss Pancreatic cancer SNP array 17952125 CASP14,CCDC105 chr19 15131445 15172792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP14,CCDC105 chr19 15131501 15238500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CASP14,CCDC105,ILVBL,OR1I1,SYDE1 chr19 1514416 1514477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 15145737 15161855 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CASP14 chr19 15147332 15147432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 15169068 15186735 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CASP14 chr19 15198731 15204231 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OR1I1 chr19 15198731 15204231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR1I1 chr19 15198731 15204231 Gain and loss Pancreatic cancer SNP array 17952125 OR1I1 chr19 15198731 15204231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR1I1 chr19 15209300 15252262 Amplification or deletion Cancer Array CGH 17440070 ILVBL,SYDE1 chr19 15209300 15304342 Gain or loss Breast cancer - 20668451 ILVBL,NOTCH3,SYDE1 chr19 15209300 15304342 Gain or loss Cancer - 20668451 ILVBL,NOTCH3,SYDE1 chr19 15209300 15304342 Gain or loss Lung cancer - 20668451 ILVBL,NOTCH3,SYDE1 chr19 15209300 15304342 Gain or loss Ovarian cancer - 20668451 ILVBL,NOTCH3,SYDE1 chr19 15209300 15304342 Gain or loss Pancreas cancer - 20668451 ILVBL,NOTCH3,SYDE1 chr19 15209300 15304342 Gain or loss Prostate cancer - 20668451 ILVBL,NOTCH3,SYDE1 chr19 15209300 15304342 Translate NUT midline carcinoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 ILVBL,NOTCH3,SYDE1 chr19 15209301 15252262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ILVBL,SYDE1 chr19 15209301 15252262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ILVBL,SYDE1 chr19 15209301 15252262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ILVBL,SYDE1 chr19 15209301 15304351 Gain and loss Pancreatic cancer SNP array 17952125 ILVBL,NOTCH3,SYDE1 chr19 1521574 1521859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1521575 1521859 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 1521575 1521859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15238501 15394500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRD4,EPHX3,NOTCH3 chr19 15254 135375 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 FAM138A,FAM138F,OR4F17,WASH5P chr19 1 526082 Deletion Cancer Affymetrix 250K Sty array 20164920 C2CD4C,FAM138A,FAM138F,FLJ45445,MADCAM1,MIER2,ODF3L2,OR4F17,PPAP2C,SHC2,THEG,TPGS1,WASH5P chr19 1527678 1543652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLK5 chr19 1527678 1543652 Gain and loss Pancreatic cancer SNP array 17952125 PLK5 chr19 1527678 1543652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLK5 chr19 15279447 15279645 Gain and loss Pancreatic cancer SNP array 17952125 NOTCH3 chr19 15279447 15279645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOTCH3 chr19 15279780 15280103 Gain and loss Pancreatic cancer SNP array 17952125 NOTCH3 chr19 15279780 15280103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOTCH3 chr19 15287426 15300561 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOTCH3 chr19 15303892 15604236 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AKAP8,AKAP8L,BRD4,EPHX3,MIR1470,NOTCH3,PGLYRP2,RASAL3,WIZ chr19 15307396 15307491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOTCH3 chr19 15325341 15351603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRD4,EPHX3 chr19 15325341 15351603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRD4,EPHX3 chr19 15325341 15351603 Gain and loss Pancreatic cancer SNP array 17952125 BRD4,EPHX3 chr19 15325341 15351603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRD4,EPHX3 chr19 15336399 15336499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 15351858 15390833 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 BRD4 chr19 15351859 15390799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRD4 chr19 15351859 15390833 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRD4 chr19 15351859 15390833 Gain and loss Pancreatic cancer SNP array 17952125 BRD4 chr19 15352798 16118051 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 AKAP8,AKAP8L,BRD4,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,MIR1470,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,PGLYRP2,RASAL3,UCA1,WIZ chr19 15393319 15421762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15393426 15393991 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 15393910 15412411 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15393910 15420118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 15394501 15420000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 15420001 15423500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 15421359 15421419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15423438 15436377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15423438 15436382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15423438 15436382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15423501 15429000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 15423606 15425997 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 15426073 15436377 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 15429001 15676000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKAP8,AKAP8L,CYP4F22,MIR1470,PGLYRP2,RASAL3,WIZ chr19 15440459 15451663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15440463 15451312 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 15440463 15451312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15454401 15485200 Deletion Glioma mate-paired sequence 20126413 AKAP8 chr19 15464337 15490603 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 AKAP8 chr19 1548178 1556431 Gain and loss Pancreatic cancer SNP array 17952125 MEX3D chr19 1548180 1556431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEX3D chr19 1548180 1556431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEX3D chr19 15497144 15524127 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKAP8L chr19 15497144 15524127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKAP8L chr19 15497144 15524127 Gain and loss Pancreatic cancer SNP array 17952125 AKAP8L chr19 15497144 15524127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKAP8L chr19 15504590 15562741 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AKAP8L,MIR1470,RASAL3,WIZ chr19 15508099 16125358 LOH Normal High-resolution SNP genotyping 21211785 AKAP8L,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,MIR1470,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,PGLYRP2,RASAL3,UCA1,WIZ chr19 15539820 15558185 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WIZ chr19 15575526 15575586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 15583467 15583934 Gain and loss Pancreatic cancer SNP array 17952125 PGLYRP2 chr19 15587029 15601448 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PGLYRP2 chr19 15587029 15601448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP2 chr19 15587029 15601448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGLYRP2 chr19 15587421 15601445 Gain and loss Pancreatic cancer SNP array 17952125 PGLYRP2 chr19 15589103 15614423 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PGLYRP2 chr1 91559167 91575068 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 91559167 91575331 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 15595327 15595388 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 15596238 15642246 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 CYP4F22 chr19 1560293 1601277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBD3,MEX3D,UQCR11 chr19 1560293 1601277 Gain and loss Pancreatic cancer SNP array 17952125 MBD3,MEX3D,UQCR11 chr19 1560293 1601277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBD3,MEX3D,UQCR11 chr19 1560294 1601277 Amplification or deletion Cancer Array CGH 17440070 MBD3,MEX3D,UQCR11 chr19 1560294 1603328 Amplification Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 MBD3,MEX3D,UQCR11 chr19 1560294 1603328 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 MBD3,MEX3D,UQCR11 chr19 1560294 1603328 Gain or loss Breast cancer - 20668451 MBD3,MEX3D,UQCR11 chr19 1560294 1603328 Gain or loss Cancer - 20668451 MBD3,MEX3D,UQCR11 chr19 1560294 1603328 Gain or loss Lung cancer - 20668451 MBD3,MEX3D,UQCR11 chr19 1560294 1603328 Gain or loss Ovarian cancer - 20668451 MBD3,MEX3D,UQCR11 chr19 1560294 1603328 Gain or loss Pancreas cancer - 20668451 MBD3,MEX3D,UQCR11 chr19 1560294 1603328 Gain or loss Prostate cancer - 20668451 MBD3,MEX3D,UQCR11 chr19 15611575 15611640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 15612707 15632570 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP4F22 chr19 15612707 15632570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4F22 chr19 15612707 15632570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F22 chr19 15613226 15631234 Gain and loss Pancreatic cancer SNP array 17952125 CYP4F22 chr19 15622937 15623409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYP4F22 chr19 15641343 15685071 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CYP4F22 chr19 15642575 15690759 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CYP4F22 chr19 15644901 15668895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4F22 chr19 15644901 15668895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F22 chr19 15644918 15668984 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP4F22 chr19 15644918 15668984 Gain and loss Pancreatic cancer SNP array 17952125 CYP4F22 chr1 91564804 91565169 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15661348 15685071 Gain Normal Birdsuite, version 1.5.2 22087296 CYP4F22 chr1 91566526 91567664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15676001 15984500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP4F12,CYP4F24P,CYP4F3,CYP4F8,OR10H1,OR10H2,OR10H3,OR10H5,UCA1 chr19 15679855 15702797 Complex Normal Quantitative PCR 18989455 NOT_FOUND chr19 15679855 15702797 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr19 15699834 15700862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15699834 15700862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15699854 15700801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15703821 15703878 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr19 15713203 15714153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15713203 15714153 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15713203 15714153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15736235 15766462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP4F3,CYP4F8 chr19 15765859 15766806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4F3 chr19 15765859 15766806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F3 chr19 15765871 15766806 Gain and loss Pancreatic cancer SNP array 17952125 CYP4F3 chr19 15774374 15788935 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CYP4F12 chr19 15778891 15779847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15778891 15779847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15778891 15779847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15793803 15795597 Gain and loss Pancreatic cancer SNP array 17952125 CYP4F12 chr19 15793803 15795597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F12 chr19 15800757 15807226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F12 chr19 15849834 15869885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR10H3 chr19 15849834 15869885 Gain and loss Pancreatic cancer SNP array 17952125 OR10H3 chr19 15849834 15869885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR10H3 chr19 15854274 15854391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 15874253 15875049 Gain and loss Pancreatic cancer SNP array 17952125 CYP4F24P chr19 15884181 15906676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4F24P,OR10H5 chr19 15884181 15906676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F24P,OR10H5 chr19 15885487 15906676 Gain and loss Pancreatic cancer SNP array 17952125 CYP4F24P,OR10H5 chr19 15891761 15891861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 1 59128983 Deletion Myelodysplastic syndrome 50K HindIII (50K), 250K StyI (250K), or 250K NspI+250K StyI (500K) SNP microarray chips 17634407 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 15920818 15921768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15920818 15921768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15920818 15921768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 15925000 16268000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 CYP4F11,CYP4F2,FLJ25328,HSH2D,LINC00661,OR10H4,RAB8A,TPM4,UCA1 chr19 15925000 16268000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 CYP4F11,CYP4F2,FLJ25328,HSH2D,LINC00661,OR10H4,RAB8A,TPM4,UCA1 chr19 15938466 16130344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4F11,CYP4F2,LINC00661,OR10H4,UCA1 chr19 15938466 16130344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F11,CYP4F2,LINC00661,OR10H4,UCA1 chr19 15951666 15970837 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 15984501 15998000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP4F2 chr19 15987444 15999262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4F2 chr19 15987444 15999262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F2 chr19 15992679 15997923 Deletion Attention deficit hyperactivity disorder - 22138692 CYP4F2 chr19 15998001 16003000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP4F2 chr19 16000000 16150000 Gain Acute lymphoblastic leukemia - 21339820 CYP4F11,CYP4F2,FLJ25328,LINC00661,OR10H4 chr19 16003001 16011500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYP4F2 chr19 16005564 16013945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4F2 chr19 16005564 16013945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F2 chr19 16005932 16007742 Gain and loss Pancreatic cancer SNP array 17952125 CYP4F2 chr19 16011501 16838000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP1M1,C19orf42,C19orf44,CALR3,CHERP,CIB3,CYP4F11,EPS15L1,FAM32A,FLJ25328,HSH2D,KLF2,LINC00661,MED26,NWD1,OR10H4,RAB8A,SLC35E1,TMEM38A,TPM4 chr19 16039348 16074813 Gain and loss Pancreatic cancer SNP array 17952125 CYP4F11,OR10H4 chr19 16039348 16074813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4F11,OR10H4 chr19 16045596 16045655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP4F11 chr19 16048324 16074408 Amplification or deletion Cancer Array CGH 17440070 OR10H4 chr19 16083467 16106037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 16083490 16105443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 16083490 16105443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 16100000 19800000 Gain Barrett's adenocarcinoma FISH 18663352 ABHD8,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ATP13A1,B3GNT3,BABAM1,BST2,C19orf42,C19orf44,C19orf60,CALR3,CCDC124,CERS1,CHERP,CIB3,CILP2,COMP,COPE,CPAMD8,CRLF1,CRTC1,DDA1,DDX49,ELL,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,FLJ25328,GATAD2A,GDF1,GDF15,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HSH2D,IFI30,IL12RB1,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00661,LOC729966,LPAR2,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR3188,MIR3189,MPV17L2,MRPL34,MYO9B,NCAN,NDUFA13,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,PBX4,PDE4C,PGLS,PGPEP1,PIK3R2,PLVAP,RAB3A,RAB8A,RFXANK,RPL18A,SIN3B,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TPM4,TSSK6,UBA52,UNC13A,UPF1,USE1,USHBP1,YJEFN3,ZNF101 chr19 16100000 19800000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 ABHD8,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ATP13A1,B3GNT3,BABAM1,BST2,C19orf42,C19orf44,C19orf60,CALR3,CCDC124,CERS1,CHERP,CIB3,CILP2,COMP,COPE,CPAMD8,CRLF1,CRTC1,DDA1,DDX49,ELL,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,FLJ25328,GATAD2A,GDF1,GDF15,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HSH2D,IFI30,IL12RB1,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00661,LOC729966,LPAR2,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR3188,MIR3189,MPV17L2,MRPL34,MYO9B,NCAN,NDUFA13,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,PBX4,PDE4C,PGLS,PGPEP1,PIK3R2,PLVAP,RAB3A,RAB8A,RFXANK,RPL18A,SIN3B,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TPM4,TSSK6,UBA52,UNC13A,UPF1,USE1,USHBP1,YJEFN3,ZNF101 chr19 16100000 19800000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 ABHD8,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ATP13A1,B3GNT3,BABAM1,BST2,C19orf42,C19orf44,C19orf60,CALR3,CCDC124,CERS1,CHERP,CIB3,CILP2,COMP,COPE,CPAMD8,CRLF1,CRTC1,DDA1,DDX49,ELL,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,FLJ25328,GATAD2A,GDF1,GDF15,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HSH2D,IFI30,IL12RB1,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00661,LOC729966,LPAR2,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR3188,MIR3189,MPV17L2,MRPL34,MYO9B,NCAN,NDUFA13,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,PBX4,PDE4C,PGLS,PGPEP1,PIK3R2,PLVAP,RAB3A,RAB8A,RFXANK,RPL18A,SIN3B,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TPM4,TSSK6,UBA52,UNC13A,UPF1,USE1,USHBP1,YJEFN3,ZNF101 chr19 16100000 19800000 Loss Lujan-Fryns syndrom Affymetrix Genome-Wide Human SNP 6.0 arrays 21521776 ABHD8,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ATP13A1,B3GNT3,BABAM1,BST2,C19orf42,C19orf44,C19orf60,CALR3,CCDC124,CERS1,CHERP,CIB3,CILP2,COMP,COPE,CPAMD8,CRLF1,CRTC1,DDA1,DDX49,ELL,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,FLJ25328,GATAD2A,GDF1,GDF15,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HSH2D,IFI30,IL12RB1,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00661,LOC729966,LPAR2,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR3188,MIR3189,MPV17L2,MRPL34,MYO9B,NCAN,NDUFA13,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,PBX4,PDE4C,PGLS,PGPEP1,PIK3R2,PLVAP,RAB3A,RAB8A,RFXANK,RPL18A,SIN3B,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TPM4,TSSK6,UBA52,UNC13A,UPF1,USE1,USHBP1,YJEFN3,ZNF101 chr19 16115501 16130375 Gain and loss Pancreatic cancer SNP array 17952125 LINC00661 chr19 16133179 16145286 Gain and loss Pancreatic cancer SNP array 17952125 FLJ25328,LINC00661 chr19 16133223 16145336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ25328,LINC00661 chr19 16133223 16145336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ25328,LINC00661 chr19 16157234 16163855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 16157235 16163855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 16159599 16159834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 16169731 16207149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPM4 chr19 16169731 16207149 Gain and loss Pancreatic cancer SNP array 17952125 TPM4 chr19 16169731 16207149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM4 chr1 91625371 91625736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 16296637 16299683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM32A chr19 16296637 16299683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM32A chr19 16296650 16299339 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 FAM32A chr19 16296651 16299337 Gain and loss Pancreatic cancer SNP array 17952125 FAM32A chr19 16300000 20000000 Deletion Cancer Array CGH 17440070 ABHD8,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ATP13A1,B3GNT3,BABAM1,BST2,C19orf42,C19orf44,C19orf60,CALR3,CCDC124,CERS1,CHERP,CILP2,COMP,COPE,CPAMD8,CRLF1,CRTC1,DDA1,DDX49,ELL,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,GATAD2A,GDF1,GDF15,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,IFI30,IL12RB1,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00663,LOC729966,LPAR2,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR3188,MIR3189,MPV17L2,MRPL34,MYO9B,NCAN,NDUFA13,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,PBX4,PDE4C,PGLS,PGPEP1,PIK3R2,PLVAP,RAB3A,RFXANK,RPL18A,SIN3B,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TSSK6,UBA52,UNC13A,UPF1,USE1,USHBP1,YJEFN3,ZNF101,ZNF14,ZNF253,ZNF506 chr19 16300000 20000000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABHD8,ANKLE1,ANO8,AP1M1,ARMC6,ARRDC2,ATP13A1,B3GNT3,BABAM1,BST2,C19orf42,C19orf44,C19orf60,CALR3,CCDC124,CERS1,CHERP,CILP2,COMP,COPE,CPAMD8,CRLF1,CRTC1,DDA1,DDX49,ELL,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FCHO1,FKBP8,GATAD2A,GDF1,GDF15,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,IFI30,IL12RB1,INSL3,ISYNA1,JAK3,JUND,KCNN1,KIAA1683,KLF2,KLHL26,KXD1,LINC00663,LOC729966,LPAR2,LRRC25,LSM4,MAP1S,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR3188,MIR3189,MPV17L2,MRPL34,MYO9B,NCAN,NDUFA13,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,PBX4,PDE4C,PGLS,PGPEP1,PIK3R2,PLVAP,RAB3A,RFXANK,RPL18A,SIN3B,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SNORA68,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM221,TMEM38A,TMEM59L,TSSK6,UBA52,UNC13A,UPF1,USE1,USHBP1,YJEFN3,ZNF101,ZNF14,ZNF253,ZNF506 chr19 16300000 51400000 Deletion Adenoid cystic carcinoma Array CGH 18698036 ABHD8,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKLE1,ANKRD27,ANO8,AP1M1,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARMC6,ARRDC2,ASPDH,ATF5,ATP13A1,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BLOC1S3,BLVRB,BSPH1,BST2,C19orf12,C19orf33,C19orf40,C19orf42,C19orf44,C19orf47,C19orf48,C19orf54,C19orf55,C19orf60,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CADM4,CALM3,CALR3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC114,CCDC124,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD37,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CERS1,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHERP,CHST8,CIC,CILP2,CKM,CLASRP,CLC,CLEC11A,CLIP3,CLPTM1,CNFN,CNTD2,COMP,COPE,COX6B1,COX7A1,CPAMD8,CPT1C,CRLF1,CRTC1,CRX,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DDA1,DDX49,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DPF1,DPY19L3,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELL,ELSPBP1,EMC10,EML2,EMP3,EPS15L1,ERCC1,ERCC2,ERF,ETHE1,ETV2,EXOC3L2,EXOSC5,F2RL3,FAM125A,FAM129C,FAM187B,FAM32A,FAM71E1,FAM83E,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCGBP,FCGRT,FCHO1,FFAR1,FFAR2,FFAR3,FGF21,FKBP8,FKRP,FLJ26850,FLT3LG,FOSB,FOXA3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GATAD2A,GDF1,GDF15,GEMIN7,GGN,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNG8,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GTPBP3,GYS1,HAMP,HAPLN4,HAUS5,HAUS8,HAVCR1P1,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HOMER3,HPN,HRC,HSD17B14,HSPB6,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGSF23,IL12RB1,IL28A,IL28B,IL29,IL4I1,INSL3,IRF2BP1,IRF3,IRGC,IRGQ,ISYNA1,ITPKC,IZUMO1,IZUMO2,JAK3,JOSD2,JUND,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KIAA0355,KIAA1683,KIRREL2,KLC3,KLF2,KLHL26,KLK1,KLK15,KLK2,KLK3,KLKP1,KPTN,KRTDAP,KXD1,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LIN37,LIN7B,LINC00662,LINC00663,LINC00665,LIPE,LMTK3,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC148145,LOC284344,LOC284395,LOC284412,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC728752,LOC729966,LPAR2,LRFN1,LRFN3,LRP3,LRRC25,LRRC4B,LSM14A,LSM4,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP1S,MAP3K10,MAP4K1,MARK4,MAST3,MAU2,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MGC45922,MIA,MIA-RAB4B,MIR1270-1,MIR1270-2,MIR150,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR5088,MIR5196,MIR641,MIR642A,MIR642B,MIR769,MLL4,MPV17L2,MRPL34,MRPS12,MYBPC2,MYH14,MYO9B,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NCAN,NCCRP1,NDUFA13,NFKBIB,NFKBID,NKPD1,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OCEL1,OPA3,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PBX4,PDCD2L,PDCD5,PDE4C,PEPD,PGLS,PGLYRP1,PGPEP1,PHLDB3,PIH1D1,PIK3R2,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLVAP,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRMT1,PRODH2,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PVR,PVRL2,QPCTL,RAB3A,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RELB,RFXANK,RGS9BP,RHPN2,RINL,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPS11,RPS16,RPS19,RPSAP58,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SHANK1,SHKBP1,SIGLEC11,SIGLEC16,SIN3B,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC25A42,SLC27A1,SLC35E1,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSBP4,STRN4,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TGFB1,THAP8,THEG5,TIMM50,TM6SF2,TMEM143,TMEM145,TMEM147,TMEM160,TMEM161A,TMEM221,TMEM38A,TMEM59L,TMEM91,TOMM40,TPRX1,TRAPPC6A,TRPM4,TSHZ3,TSKS,TSSK6,TTC9B,TULP2,TYROBP,U2AF1L4,UBA2,UBA52,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USE1,USF2,USHBP1,VASP,VRK3,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,YJEFN3,ZBTB32,ZC3H4,ZFP112,ZFP14,ZFP30,ZFP36,ZFP82,ZNF100,ZNF101,ZNF114,ZNF14,ZNF146,ZNF155,ZNF180,ZNF181,ZNF208,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF257,ZNF260,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF404,ZNF420,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF45,ZNF461,ZNF473,ZNF486,ZNF492,ZNF493,ZNF506,ZNF507,ZNF526,ZNF527,ZNF529,ZNF536,ZNF540,ZNF541,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF826P,ZNF829,ZNF85,ZNF850,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 16329998 16330138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP1M1 chr19 16333408 16443762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP1M1,KLF2 chr19 16333408 16443762 Gain and loss Pancreatic cancer SNP array 17952125 AP1M1,KLF2 chr19 16333408 16443762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP1M1,KLF2 chr19 16370477 16370770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 16370482 16370770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 16370482 16370770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1 63793700 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Amplificationdeletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Deletion Ewing's sarcoma CGH(Reference) 21437220 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Gain Medulloblastoma SNP arrays 21979893 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Gain Normal - 20616218 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Gain Normal - 21541734 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Indels Normal Affymetrix 6.0 array 21223598 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1140K arrays 21546498 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1146K arrays 21546498 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1149K arrays 21546498 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1151K arrays 21546498 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1153K arrays 21546498 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Loss Glioblastoma multiforme aCGH 21080181 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 1 63811651 Loss Glioblastoma multiforme conventional CGH 21080181 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLJ45445,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WASH5P,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 16393510 16393554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 16397949 16398049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 16413980 16621934 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 C19orf44,CALR3,EPS15L1,KLF2 chr19 16435974 16436036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF2 chr19 16450878 16600015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALR3,EPS15L1 chr19 16450878 16600015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALR3,EPS15L1 chr19 16450888 16468003 Gain and loss Pancreatic cancer SNP array 17952125 EPS15L1 chr19 16468205 16493163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPS15L1 chr19 16468205 16493163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15L1 chr19 16468224 16493160 Gain and loss Pancreatic cancer SNP array 17952125 EPS15L1 chr19 16489700 16514263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPS15L1 chr19 16489700 16514263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15L1 chr19 16489710 16514248 Gain and loss Pancreatic cancer SNP array 17952125 EPS15L1 chr19 16511499 16511795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15L1 chr19 16511513 16511795 Gain and loss Pancreatic cancer SNP array 17952125 EPS15L1 chr19 16511513 16511795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15L1 chr19 16522661 16544193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPS15L1 chr19 16522661 16544193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS15L1 chr19 16522666 16544193 Gain and loss Pancreatic cancer SNP array 17952125 EPS15L1 chr19 16532094 16532166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPS15L1 chr19 16546718 16600015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CALR3,EPS15L1 chr19 16546718 16600015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CALR3,EPS15L1 chr19 16547838 16599754 Gain and loss Pancreatic cancer SNP array 17952125 CALR3,EPS15L1 chr19 1658798 1692437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 16615954 16631955 Gain and loss Pancreatic cancer SNP array 17952125 C19orf44,CHERP chr19 16617967 16631968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf44,CHERP chr19 16617967 16631968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf44,CHERP chr19 16618405 16631941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf44,CHERP chr19 16632938 16660814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHERP,SLC35E1 chr19 16632938 16660814 Gain and loss Pancreatic cancer SNP array 17952125 CHERP,SLC35E1 chr19 16632938 16660814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHERP,SLC35E1 chr19 16647901 16648108 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHERP chr19 16659915 16660013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 16703001 16789756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf42,MED26,TMEM38A chr19 16703001 16789756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf42,MED26,TMEM38A chr19 16703001 16789758 Gain and loss Pancreatic cancer SNP array 17952125 C19orf42,MED26,TMEM38A chr19 16720824 16740706 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MED26 chr19 16720824 16744912 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MED26 chr19 16732975 16733071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED26 chr1 91678465 91703335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 16801218 16852164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NWD1 chr19 16801218 16852164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NWD1 chr19 16801231 16852164 Gain and loss Pancreatic cancer SNP array 17952125 NWD1 chr19 1 6806329 Loss Neuroblastoma aCGH 20406844 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 16835233 16835307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NWD1 chr19 16838001 16903500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NWD1 chr19 16860826 16863830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NWD1 chr19 16860826 16863830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NWD1 chr19 16860826 16870516 Gain and loss Pancreatic cancer SNP array 17952125 NWD1 chr19 16864758 16998469 Gain and loss Pancreatic cancer SNP array 17952125 NWD1,SIN3B chr19 16864765 16998625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NWD1,SIN3B chr19 16864765 16998625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NWD1,SIN3B chr1 91686686 91687141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 16881602 16881825 Gain and loss Pancreatic cancer SNP array 17952125 NWD1 chr19 16881602 16881825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NWD1 chr19 16882300 16882594 Gain and loss Pancreatic cancer SNP array 17952125 NWD1 chr19 16882303 16882594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NWD1 chr19 1 6900000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Copy number Lung adenocarcinoma Agilent 44k arrays 19525976 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Copy number Lung cancer Agilent 44k arrays 19525976 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Copy number Peutz-jeghers syndrome References 19566914 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Deletion Familial hypercholesterolemia MLPA 17426749 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Deletion Lung cancer Relied on a multipoint score function 16773561 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Deletion or duplication hypercholesterolemia References 21956041 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Breast cancer Conventional CGH 17393978 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Cervical cancer Array CGH 21063398 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Myxofibrosarcoma Array CGH 16751306 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Squamous cell cancer array-CGH 19607727 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain Sudden cardiac death CGH 19188705 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Loss Lujan-Fryns syndrom Affymetrix Genome-Wide Human SNP 6.0 arrays 21521776 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Loss Multiple system atrophy CNV 400K microarray 21658278 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Loss Myoepithelioma Array CGH 18604193 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 1 6900000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,FAM108A1,FAM138A,FAM138F,FEM1A,FGF22,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77,ZNRF4 chr19 16903501 17173000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CPAMD8,F2RL3,HAUS8,NWD1,SIN3B chr19 16904747 17492634 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ABHD8,ANKLE1,ANO8,BABAM1,CPAMD8,DDA1,F2RL3,GTPBP3,HAUS8,MRPL34,MYO9B,NR2F6,NWD1,OCEL1,PLVAP,SIN3B,USE1,USHBP1 chr1 91691813 91692370 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 16931679 17043939 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CPAMD8,F2RL3,SIN3B chr19 16967705 16986457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIN3B chr19 16971195 16971289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIN3B chr19 1697501 1719000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 16976684 16976976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SIN3B chr19 16976707 16976999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SIN3B chr19 16991306 16991390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 16998070 16999171 Gain Normal 244K array 17666407 NOT_FOUND chr19 17021541 17047242 Gain and loss Pancreatic cancer SNP array 17952125 CPAMD8 chr19 17021573 17047343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPAMD8 chr19 17021573 17047343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPAMD8 chr19 1704662 1726444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1704662 1726444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 17057782 17057870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPAMD8 chr19 17069627 17104026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPAMD8 chr19 17073466 17185093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPAMD8,HAUS8 chr19 17073466 17185093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPAMD8,HAUS8 chr19 17073528 17185103 Gain and loss Pancreatic cancer SNP array 17952125 CPAMD8,HAUS8 chr19 17077501 17735300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABHD8,ANKLE1,ANO8,BABAM1,BST2,CPAMD8,DDA1,FAM125A,FAM129C,GLT25D1,GTPBP3,HAUS8,MRPL34,MYO9B,NR2F6,NXNL1,OCEL1,PGLS,PLVAP,SLC27A1,TMEM221,UNC13A,USE1,USHBP1 chr19 17122340 17122790 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CPAMD8 chr1 91712243 91712677 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 1716678 1716768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 17173001 17311000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HAUS8,MYO9B chr19 171836 45748633 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT2,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BCAM,BCKDHA,BCL3,BEST2,BLOC1S3,BLVRB,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf12,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CADM4,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD70,CD79A,CD97,CDC34,CDC37,CDKN2D,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CHAF1A,CHERP,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CLASRP,CLC,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNTD2,COL5A3,COMP,COPE,COX6B1,COX7A1,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHPS,DIRAS1,DKFZp566F0947,DLL3,DMKN,DMRTC2,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPY19L3,DUS3L,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,ERF,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM187B,FAM32A,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXW9,FCER2,FCGBP,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GLT25D1,GMFG,GMIP,GNA11,GNA15,GNG7,GPATCH1,GPI,GPR108,GPX4,GRAMD1A,GRIK5,GRIN3B,GSK3A,GTF2F1,GTPBP3,GZMM,HAMP,HAPLN4,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HSD11B1L,HSH2D,HSPB6,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFLR1,IGSF23,IL12RB1,IL27RA,IL28A,IL28B,IL29,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRGC,IRGQ,ISYNA1,ITPKC,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNK6,KCNN1,KCNN4,KCTD15,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIRREL2,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KRTDAP,KXD1,LDLR,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129935,LOC100131094,LOC100134317,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505835,LOC100506469,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC148145,LOC284344,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEX3D,MFSD12,MIA,MIA-RAB4B,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4323,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR5196,MIR637,MIR638,MIR639,MIR641,MIR7-3,MIR7-3HG,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCCRP1,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKPD1,NMRK2,NOTCH3,NPHS1,NR2C2AP,NR2F6,NRTN,NUDT19,NUMBL,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEPD,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLAC2,PLAUR,PLD3,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPP1R14A,PPP1R37,PRAM1,PRDX2,PRG1,PRKACA,PRKCSH,PRODH2,PRR19,PRR22,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTPRS,PVR,PVRL2,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RAVER1,RAX2,RBM42,RDH8,REEP6,RELB,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS16,RPS19,RPS28,RPSAP58,RTBDN,RYR1,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBNO2,SBSN,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SEMA6B,SERTAD1,SERTAD3,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SHKBP1,SIN3B,SIPA1L3,SIRT2,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC7A10,SLC7A9,SMARCA4,SMG9,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SNRPA,SPC24,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SUPT5H,SWSAP1,SYCE2,SYCN,SYDE1,SYNE4,TBCB,TBXA2R,TCF3,TDRD12,TECR,TEX101,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM145,TMEM147,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TOMM40,TPGS1,TPM4,TRAPPC5,TRAPPC6A,TRIP10,TRMT1,TSHZ3,TSPAN16,TSSK6,TTC9B,TUBB4A,TYK2,TYROBP,U2AF1L4,UBA2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,VAV1,VMAC,VSTM2B,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB7A,ZFP112,ZFP14,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF146,ZNF155,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF257,ZNF260,ZNF266,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF317,ZNF333,ZNF345,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF45,ZNF461,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF507,ZNF526,ZNF527,ZNF529,ZNF536,ZNF540,ZNF546,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF780A,ZNF780B,ZNF781,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF829,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF850,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 17187155 17191638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17187155 17191638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17187168 17191638 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17187243 17191604 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 MYO9B chr19 1719001 1734500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 17198013 17201023 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17198055 17201027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17198055 17201027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17199097 17199197 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17199097 17199197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17203693 17217151 Copy number Gastric cancer Human cDNA microarrays 17229543 MYO9B chr19 17203694 17217151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17203694 17217151 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17203694 17217151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17203747 17216995 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 MYO9B chr1 91721922 93409158 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 BRDT,BTBD8,C1orf146,CDC7,EPHX4,EVI5,FAM69A,GFI1,GLMN,HFM1,HSP90B3P,KIAA1107,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3 chr19 17221838 17236573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17221838 17236573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17221848 17236544 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MYO9B chr19 17221849 17236544 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17239232 17251162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17239232 17251162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17239252 17251144 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17239287 17251013 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 MYO9B chr19 17253454 17259455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17253454 17259455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17253681 17259454 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17263941 17275234 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17263941 17275282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17263941 17275282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 1726622 1726722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 17271609 17272609 Loss Osteosarcoma References 21215367 MYO9B chr19 17277477 17278652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17277477 17278652 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17277477 17278652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17281350 17292098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17281350 17292098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17281362 17292098 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17295034 17306638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17295034 17306638 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17295034 17306638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17309364 17314530 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B chr19 17309379 17314530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17309379 17314530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B chr19 17311001 17691000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABHD8,ANKLE1,ANO8,BABAM1,BST2,DDA1,FAM125A,FAM129C,GLT25D1,GTPBP3,MRPL34,MYO9B,NR2F6,NXNL1,OCEL1,PGLS,PLVAP,SLC27A1,TMEM221,USE1,USHBP1 chr19 17323264 17349151 Gain and loss Pancreatic cancer SNP array 17952125 MYO9B,NR2F6,OCEL1,USE1 chr19 17323264 17349159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO9B,NR2F6,OCEL1,USE1 chr19 17323264 17349159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO9B,NR2F6,OCEL1,USE1 chr19 1733076 1763270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ONECUT3 chr19 1733076 1763270 Gain and loss Pancreatic cancer SNP array 17952125 ONECUT3 chr19 1733076 1763270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ONECUT3 chr19 1734501 1943000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAT3,ATP8B3,CSNK1G2,FAM108A1,KLF16,LOC100288123,MIR1909,ONECUT3,REXO1,SCAMP4 chr19 17374750 17377401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USHBP1 chr19 17374750 17377401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USHBP1 chr19 17374759 17377457 Gain and loss Pancreatic cancer SNP array 17952125 USHBP1 chr1 91739012 91763899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HFM1 chr1 91739012 91763899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HFM1 chr1 91739031 91763902 Gain or loss Breast cancer - 20668451 HFM1 chr1 91739031 91763902 Gain or loss Cancer - 20668451 HFM1 chr1 91739031 91763902 Gain or loss Lung cancer - 20668451 HFM1 chr1 91739031 91763902 Gain or loss Ovarian cancer - 20668451 HFM1 chr1 91739031 91763902 Gain or loss Pancreas cancer - 20668451 HFM1 chr1 91739031 91763902 Gain or loss Prostate cancer - 20668451 HFM1 chr1 91739031 91763902 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 HFM1 chr19 17391853 17397141 Gain and loss Pancreatic cancer SNP array 17952125 ANKLE1 chr19 17391856 17397140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKLE1 chr19 17391856 17397140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKLE1 chr19 17407801 17420118 Gain and loss Pancreatic cancer SNP array 17952125 ABHD8,MRPL34 chr19 17408453 17420118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD8,MRPL34 chr19 174158 174260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 174158 174261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 17427233 17432725 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 DDA1 chr19 17427236 17432725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDA1 chr19 17427236 17432725 Gain and loss Pancreatic cancer SNP array 17952125 DDA1 chr19 17427236 17432725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDA1 chr19 17429059 17429175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDA1 chr19 17442300 17477977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO8,GTPBP3,PLVAP chr19 17442300 17477977 Gain and loss Pancreatic cancer SNP array 17952125 ANO8,GTPBP3,PLVAP chr19 17442300 17477977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO8,GTPBP3,PLVAP chr19 17483432 17493095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLVAP chr19 17483432 17493095 Gain and loss Pancreatic cancer SNP array 17952125 PLVAP chr19 17483432 17493095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLVAP chr19 17489352 17532200 Gain Normal Birdsuite, version 1.5.2 22087296 BST2,FAM125A chr19 17495110 17525454 Gain and loss Pancreatic cancer SNP array 17952125 BST2 chr19 17495110 17525647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BST2 chr19 17527460 17554965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM125A,TMEM221 chr19 17527460 17554965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM125A,TMEM221 chr19 17527511 17554965 Gain and loss Pancreatic cancer SNP array 17952125 FAM125A,TMEM221 chr19 17564939 17565321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 17573137 17647978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM129C,PGLS,SLC27A1 chr19 17573137 17647978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM129C,PGLS,SLC27A1 chr19 17575622 17617815 Gain and loss Pancreatic cancer SNP array 17952125 SLC27A1 chr19 17579631 17579719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 17599507 17760347 Gain and loss Pancreatic cancer SNP array 17952125 FAM129C,GLT25D1,PGLS,SLC27A1,UNC13A chr19 17609483 17609746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC27A1 chr19 1762765 1762825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ONECUT3 chr19 1766245 1799452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8B3,ONECUT3 chr19 1766245 1799452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B3,ONECUT3 chr19 1766247 1799450 Gain and loss Pancreatic cancer SNP array 17952125 ATP8B3,ONECUT3 chr19 17667309 17667409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLT25D1 chr19 1767158 1767237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ONECUT3 chr19 1768925 1768980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ONECUT3 chr19 17691001 18228500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARRDC2,B3GNT3,CCDC124,FCHO1,GLT25D1,IL12RB1,INSL3,JAK3,KCNN1,MAP1S,MAST3,RPL18A,SLC5A5,SNORA68,UNC13A chr19 17691080 17784835 Gain aortic dissecting aneurysms Array-CGH 22263138 GLT25D1,UNC13A chr19 17691291 17706322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLT25D1 chr19 17691291 17706322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLT25D1 chr19 17691303 17706324 Gain and loss Pancreatic cancer SNP array 17952125 GLT25D1 chr19 17726920 17760371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC13A chr19 17726920 17760371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13A chr1 91772810 91773244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HFM1 chr19 17766919 17785385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC13A chr19 17766919 17785385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13A chr19 17766945 17784890 Gain and loss Pancreatic cancer SNP array 17952125 UNC13A chr19 17788322 17819800 Gain and loss Pancreatic cancer SNP array 17952125 UNC13A chr19 17788324 17793320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC13A chr19 17788324 17793320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13A chr19 1778846 1778913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 17796592 17819841 Copy number Lung cancer - 20668451 UNC13A chr19 17796592 17819841 Gain or loss Breast cancer - 20668451 UNC13A chr19 17796592 17819841 Gain or loss Cancer - 20668451 UNC13A chr19 17796592 17819841 Gain or loss Lung cancer - 20668451 UNC13A chr19 17796592 17819841 Gain or loss Ovarian cancer - 20668451 UNC13A chr19 17796592 17819841 Gain or loss Pancreas cancer - 20668451 UNC13A chr19 17796592 17819841 Gain or loss Prostate cancer - 20668451 UNC13A chr19 17797961 17819800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC13A chr19 17797961 17819800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC13A chr19 17800266 17800399 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 17800861 17801858 Inversion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr19 17831731 17835124 Gain and loss Pancreatic cancer SNP array 17952125 MAP1S chr19 17831731 17835124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP1S chr19 17834397 17834529 Gain and loss Pancreatic cancer SNP array 17952125 MAP1S chr19 17834397 17834529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP1S chr19 17843782 17865897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCHO1,MAP1S chr19 17843782 17865897 Gain and loss Pancreatic cancer SNP array 17952125 FCHO1,MAP1S chr19 17843782 17865897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCHO1,MAP1S chr19 17856138 17856846 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 17878623 17878750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FCHO1 chr19 1788061 1999598 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ADAT3,ATP8B3,BTBD2,CSNK1G2,CSNK1G2-AS1,FAM108A1,KLF16,LOC100288123,MIR1909,REXO1,SCAMP4 chr19 17908217 17915783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GNT3 chr19 17908217 17915783 Gain and loss Pancreatic cancer SNP array 17952125 B3GNT3 chr19 17908217 17915783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GNT3 chr19 17918049 17918197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 B3GNT3 chr19 17923111 17970930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GNT3,INSL3,JAK3,RPL18A chr19 17923111 17970930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GNT3,INSL3,JAK3,RPL18A chr19 17945647 17970215 Gain and loss Pancreatic cancer SNP array 17952125 JAK3 chr19 17946668 17946737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JAK3 chr1 91794739 93287060 LOH Normal High-resolution SNP genotyping 21211785 BRDT,BTBD8,C1orf146,CDC7,EPHX4,EVI5,GFI1,GLMN,HFM1,HSP90B3P,KIAA1107,RPAP2,TGFBR3 chr19 17966839 18000567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPL18A,SLC5A5,SNORA68 chr19 17972944 17985903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPL18A,SLC5A5,SNORA68 chr19 17972944 17985903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPL18A,SLC5A5,SNORA68 chr19 17976181 24295825 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1144K arrays 21546498 ARMC6,ARRDC2,ATP13A1,C19orf60,CCDC124,CERS1,CILP2,COMP,COPE,CRLF1,CRTC1,DDX49,ELL,FKBP8,GATAD2A,GDF1,GDF15,GMIP,HAPLN4,HOMER3,IFI30,IL12RB1,ISYNA1,JUND,KCNN1,KIAA1683,KLHL26,KXD1,LINC00663,LOC400680,LOC440518,LOC641367,LOC729966,LPAR2,LRRC25,LSM4,MAST3,MAU2,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1270-1,MIR1270-2,MIR3188,MIR3189,MPV17L2,NCAN,NDUFA13,NR2C2AP,PBX4,PDE4C,PGPEP1,PIK3R2,RAB3A,RFXANK,RPSAP58,SLC25A42,SLC5A5,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM59L,TSSK6,UBA52,UPF1,YJEFN3,ZNF100,ZNF101,ZNF14,ZNF208,ZNF253,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF506,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 17979977 17985905 Gain and loss Pancreatic cancer SNP array 17952125 SLC5A5 chr19 18010000 19910000 Gain Breast cancer aCGH 21509527 ARMC6,ARRDC2,ATP13A1,C19orf60,CCDC124,CERS1,CILP2,COMP,COPE,CRLF1,CRTC1,DDX49,ELL,FKBP8,GATAD2A,GDF1,GDF15,GMIP,HAPLN4,HOMER3,IFI30,IL12RB1,ISYNA1,JUND,KCNN1,KIAA1683,KLHL26,KXD1,LINC00663,LOC729966,LPAR2,LRRC25,LSM4,MAST3,MAU2,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR3188,MIR3189,MPV17L2,NCAN,NDUFA13,NR2C2AP,PBX4,PDE4C,PGPEP1,PIK3R2,RAB3A,RFXANK,SLC25A42,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM59L,TSSK6,UBA52,UPF1,YJEFN3,ZNF101,ZNF14,ZNF506 chr19 18020447 18020841 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 18030806 18104521 Gain and loss Pancreatic cancer SNP array 17952125 CCDC124,KCNN1 chr19 18031701 18058697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC124 chr19 18031701 18058697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC124 chr19 1803398 1814564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP8B3 chr19 1803398 1814564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP8B3 chr19 1803399 1814496 Gain and loss Pancreatic cancer SNP array 17952125 ATP8B3 chr19 18069603 18123499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARRDC2,KCNN1 chr19 18069603 18123499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARRDC2,KCNN1 chr19 18069605 18123494 Gain and loss Pancreatic cancer SNP array 17952125 ARRDC2,KCNN1 chr19 18085999 18086099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNN1 chr19 18089946 18142343 Gain and loss Pancreatic cancer SNP array 17952125 ARRDC2,KCNN1 chr19 18095179 18140381 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARRDC2,KCNN1 chr19 18103159 18103478 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNN1 chr19 18125015 18149927 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 18125015 18149927 Gain or loss Cancer - 20668451 NOT_FOUND chr19 18125015 18149927 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 18125015 18149927 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 18125015 18149927 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 18125015 18149927 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 18125015 18149927 Gain Ovarian cancer Array CGH 17875760 NOT_FOUND chr19 18125016 18142343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18125016 18142343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 1813802 1815624 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 REXO1 chr19 18145579 18149927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18145579 18149927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 18145579 18149927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18155153 18173275 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IL12RB1 chr19 18155153 18173275 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 IL12RB1 chr19 18165040 18168552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18165040 18168552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18165092 18168756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 18168611 18175839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL12RB1 chr19 18168611 18175839 Gain and loss Pancreatic cancer SNP array 17952125 IL12RB1 chr19 18168611 18175839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL12RB1 chr19 18179771 18220010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL12RB1,MAST3 chr19 18179771 18220010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL12RB1,MAST3 chr19 18181534 18227229 Gain and loss Pancreatic cancer SNP array 17952125 IL12RB1,MAST3 chr19 18188689 18228816 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 IL12RB1,MAST3 chr19 1820922 1820996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 REXO1 chr19 18228501 18238500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAST3 chr19 18228909 18246235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAST3 chr19 18228909 18246235 Gain and loss Pancreatic cancer SNP array 17952125 MAST3 chr19 18228909 18246235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAST3 chr19 18238501 18384500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IFI30,KIAA1683,LOC729966,MAST3,MPV17L2,PDE4C,PIK3R2,RAB3A chr19 18240256 18240355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAST3 chr19 18245585 18262220 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MAST3 chr19 18251562 18253432 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MAST3 chr19 18251562 18253432 Gain or loss Breast cancer - 20668451 MAST3 chr19 18251562 18253432 Gain or loss Cancer - 20668451 MAST3 chr19 18251562 18253432 Gain or loss Lung cancer - 20668451 MAST3 chr19 18251562 18253432 Gain or loss Ovarian cancer - 20668451 MAST3 chr19 18251562 18253432 Gain or loss Pancreas cancer - 20668451 MAST3 chr19 18251562 18253432 Gain or loss Prostate cancer - 20668451 MAST3 chr19 18251562 18253432 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAST3 chr19 18251575 18251854 Loss Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 MAST3 chr19 18252251 18253294 Gain and loss Pancreatic cancer SNP array 17952125 MAST3 chr19 18252251 18253294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAST3 chr19 18277972 18356709 Loss Normal Birdsuite, version 1.5.2 22087296 IFI30,MPV17L2,PDE4C,PIK3R2,RAB3A chr19 18278718 18294958 Gain and loss Pancreatic cancer SNP array 17952125 IFI30,PIK3R2 chr19 18278720 18294958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFI30,PIK3R2 chr19 18278720 18294958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFI30,PIK3R2 chr19 1827976 1836494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 REXO1 chr19 1827976 1836494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 REXO1 chr19 1827976 1836500 Gain and loss Pancreatic cancer SNP array 17952125 REXO1 chr19 1829075 1829150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 REXO1 chr19 18305086 18305381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPV17L2 chr19 18305086 18305383 Gain and loss Pancreatic cancer SNP array 17952125 MPV17L2 chr19 18305086 18305383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPV17L2 chr19 183069 327646 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ45445,MIER2,PPAP2C chr19 18312397 18526861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GDF15,JUND,KIAA1683,LOC729966,LRRC25,LSM4,MIR3188,MIR3189,PDE4C,PGPEP1,RAB3A chr19 18312397 18526861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GDF15,JUND,KIAA1683,LOC729966,LRRC25,LSM4,MIR3188,MIR3189,PDE4C,PGPEP1,RAB3A chr19 18312450 18335428 Gain and loss Pancreatic cancer SNP array 17952125 PDE4C,RAB3A chr19 18340238 18341758 Gain and loss Pancreatic cancer SNP array 17952125 PDE4C chr19 18341417 18341517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4C chr19 18342728 18342806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE4C chr19 183484 4297348 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ABCA7,ADAMTSL5,ADAT3,AES,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf71,C19orf77,C2CD4C,CACTIN,CACTIN-AS1,CCDC94,CDC34,CELF5,CFD,CIRBP,CIRBP-AS1,CNN2,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DIRAS1,DOHH,DOT1L,EBI3,EEF2,EFNA2,ELANE,FAM108A1,FGF22,FLJ45445,FSTL3,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPX4,GRIN3B,GZMM,HCN2,HMG20B,HMHA1,IZUMO4,JSRP1,KISS1R,KLF16,LINGO3,LMNB2,LOC100288123,LPPR3,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR4321,MIR4745,MIR637,MKNK2,MOB3A,MRPL54,MUM1,NCLN,NDUFS7,NFIC,NMRK2,OAZ1,ODF3L2,ONECUT3,PALM,PCSK4,PIAS4,PIP5K1C,PLEKHJ1,PLK5,POLR2E,POLRMT,PPAP2C,PRSS57,PRTN3,PTBP1,R3HDM4,RAX2,REEP6,REXO1,RNF126,RPS15,S1PR4,SBNO2,SCAMP4,SF3A2,SGTA,SHC2,SHD,SIRT6,SLC39A3,SNORD37,SPPL2B,STK11,TBXA2R,TCF3,THEG,THOP1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TPGS1,UQCR11,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77 chr19 1 8354349 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1142K arrays 21546498 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf45,C19orf59,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAMSAP3,CAPS,CATSPERD,CCDC94,CCL25,CD209,CD70,CDC34,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,ELAVL1,EMR1,EMR4P,EVI5L,FAM108A1,FAM138A,FAM138F,FBN3,FCER2,FEM1A,FGF22,FLJ22184,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,INSR,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC388499,LONP1,LPPR3,LRG1,LRRC8E,LSM7,MADCAM1,MAP2K2,MAP2K7,MATK,MBD3,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR4F17,PALM,PCP2,PCSK4,PET100,PEX11G,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,RETN,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNAPC2,SNORD37,SPPL2B,STAP2,STK11,STXBP2,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRAPPC5,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WASH5P,WDR18,XAB2,ZBTB7A,ZFR2,ZNF358,ZNF554,ZNF555,ZNF556,ZNF557,ZNF57,ZNF77,ZNRF4 chr19 18357428 18375937 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA1683,LOC729966,PDE4C chr19 18357968 18360986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC729966,PDE4C chr19 18357968 18360986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729966,PDE4C chr19 18357968 18360987 Gain and loss Pancreatic cancer SNP array 17952125 LOC729966,PDE4C chr19 18362955 18369415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1683,LOC729966 chr19 18362955 18369415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1683,LOC729966 chr19 18362955 18369421 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1683,LOC729966 chr19 18376769 18376868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1683 chr19 18381504 18381592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1683 chr1 91838316 91838466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HFM1 chr1 91838316 91838466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HFM1 chr19 18384501 18482500 Copy number Normal ReadDepth: A Parallel R Package 21305028 JUND,KIAA1683,LSM4,MIR3188,PGPEP1 chr19 18391136 18406459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JUND,MIR3188 chr19 18391136 18406459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JUND,MIR3188 chr19 18391239 18406371 Gain and loss Pancreatic cancer SNP array 17952125 JUND,MIR3188 chr19 18394642 19673639 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARMC6,C19orf60,CERS1,CILP2,COMP,COPE,CRLF1,CRTC1,DDX49,ELL,FKBP8,GATAD2A,GDF1,GDF15,HAPLN4,HOMER3,ISYNA1,KLHL26,KXD1,LRRC25,LSM4,MAU2,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR3189,NCAN,NDUFA13,NR2C2AP,PBX4,PGPEP1,RFXANK,SLC25A42,SSBP4,SUGP1,SUGP2,TM6SF2,TMEM161A,TMEM59L,TSSK6,UBA52,UPF1,YJEFN3 chr19 18406620 18409977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 18406625 18409943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18406625 18409943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18414472 18493918 Gain or loss Breast cancer - 20668451 LSM4,PGPEP1 chr19 18414472 18493918 Gain or loss Cancer - 20668451 LSM4,PGPEP1 chr19 18414472 18493918 Gain or loss Lung cancer - 20668451 LSM4,PGPEP1 chr19 18414472 18493918 Gain or loss Ovarian cancer - 20668451 LSM4,PGPEP1 chr19 18414472 18493918 Gain or loss Pancreas cancer - 20668451 LSM4,PGPEP1 chr19 18414472 18493918 Gain or loss Prostate cancer - 20668451 LSM4,PGPEP1 chr19 18414475 18493918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LSM4,PGPEP1 chr19 18414475 18493918 Gain and loss Pancreatic cancer SNP array 17952125 LSM4,PGPEP1 chr19 18414475 18493918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LSM4,PGPEP1 chr19 18444644 18444694 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr19 18482501 18667000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ELL,FKBP8,GDF15,ISYNA1,LRRC25,MIR3189,SSBP4 chr19 18503567 18515387 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LRRC25 chr19 18503568 18515383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC25 chr19 18503568 18515383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC25 chr19 18503574 18515383 Gain and loss Pancreatic cancer SNP array 17952125 LRRC25 chr19 18522283 18522602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 18529598 18541176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSBP4 chr19 18529598 18541176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSBP4 chr19 18529604 18541184 Gain and loss Pancreatic cancer SNP array 17952125 SSBP4 chr19 18542541 18542618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSBP4 chr19 18543668 18547048 Gain and loss Pancreatic cancer SNP array 17952125 ISYNA1,SSBP4 chr19 18545111 18546960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISYNA1,SSBP4 chr19 18547253 18549360 Gain and loss Pancreatic cancer SNP array 17952125 ISYNA1 chr19 18560608 18564146 Gain and loss Pancreatic cancer SNP array 17952125 ELL chr19 18560608 18564146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELL chr19 1856373 1877009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM108A1,KLF16 chr19 1856373 1877011 Gain and loss Pancreatic cancer SNP array 17952125 FAM108A1,KLF16 chr19 1856373 1877012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM108A1,KLF16 chr19 1856373 1877012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM108A1,KLF16 chr19 1856417 1864444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLF16 chr19 1856417 1864444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLF16 chr19 18565047 18578660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELL chr19 18565047 18578660 Gain and loss Pancreatic cancer SNP array 17952125 ELL chr19 18565047 18578660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELL chr19 18579063 18579141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELL chr19 18584682 18592841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELL chr19 18584682 18592841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELL chr19 18584712 18592822 Gain and loss Pancreatic cancer SNP array 17952125 ELL chr1 91860008 91988447 Gain and loss Pancreatic cancer SNP array 17952125 CDC7,HFM1 chr19 18605549 18605622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELL chr19 18608838 18642302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELL chr19 18608838 18642302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELL chr19 18608865 18642302 Gain and loss Pancreatic cancer SNP array 17952125 ELL chr19 18616018 18616118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELL chr1 91862936 91985151 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CDC7,HFM1 chr19 18655425 18754004 Gain and loss Pancreatic cancer SNP array 17952125 C19orf60,CRLF1,KLHL26,KXD1,TMEM59L,UBA52 chr19 18655425 18754142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf60,CRLF1,KLHL26,KXD1,TMEM59L,UBA52 chr19 18655425 18754142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf60,CRLF1,KLHL26,KXD1,TMEM59L,UBA52 chr19 18667001 18741000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C19orf60,CRLF1,KXD1,TMEM59L,UBA52 chr19 18682366 18686055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UBA52 chr19 18682613 18688269 Amplification Prostate cancer aCGH 22341455 UBA52 chr19 18693064 18708922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C19orf60,CRLF1 chr19 18703318 18735412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRLF1,TMEM59L chr1 91873156 91881923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 91873156 91881923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18741001 18754000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL26 chr19 1874871 1875005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 18749534 19294814 Gain Bladder cancer array-CGH 21909424 ARMC6,CERS1,COMP,COPE,CRTC1,DDX49,GDF1,HOMER3,KLHL26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,SLC25A42,SUGP2,TMEM161A,UPF1 chr19 18754001 18913000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COMP,CRTC1,KLHL26 chr19 18754584 18763114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHL26 chr19 18754584 18763114 Gain and loss Pancreatic cancer SNP array 17952125 KLHL26 chr19 18754584 18763114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL26 chr1 91875869 91875969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 18767640 18799921 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRTC1,KLHL26 chr19 18794800 18794869 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRTC1 chr19 18803744 18840038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRTC1 chr19 18803744 18840038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTC1 chr19 18803747 18840038 Gain and loss Pancreatic cancer SNP array 17952125 CRTC1 chr1 91883635 91883719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 18840354 18867953 Gain and loss Pancreatic cancer SNP array 17952125 CRTC1 chr19 18840361 18867953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRTC1 chr19 18840361 18867953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTC1 chr19 18863731 18864183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTC1 chr19 18863731 18898964 Gain and loss Pancreatic cancer SNP array 17952125 COMP,CRTC1 chr19 18871323 18891199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRTC1 chr19 18871323 18891199 Gain and loss Pancreatic cancer SNP array 17952125 CRTC1 chr19 18871323 18891199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTC1 chr19 18879935 18881279 Gain and loss Pancreatic cancer SNP array 17952125 CRTC1 chr19 18879935 18881279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTC1 chr19 18891494 18900436 Gain and loss Pancreatic cancer SNP array 17952125 COMP,CRTC1 chr19 18891494 18900436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMP,CRTC1 chr19 18901012 18912983 Gain and loss Pancreatic cancer SNP array 17952125 COMP chr19 18901012 18913012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COMP chr19 18901012 18913012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMP chr19 18913001 19196500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARMC6,CERS1,COPE,DDX49,GDF1,HOMER3,SLC25A42,SUGP2,UPF1 chr19 1892188 1931455 Gain and loss Pancreatic cancer SNP array 17952125 ADAT3,SCAMP4 chr19 1892188 1931455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAT3,SCAMP4 chr19 18929767 18930067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 18929767 18930067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18929769 18930067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 18938432 18983579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS1,GDF1,UPF1 chr19 18961490 19385105 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ARMC6,CERS1,COPE,DDX49,GDF1,HAPLN4,HOMER3,MEF2B,MEF2BNB,MEF2BNB-MEF2B,NCAN,NR2C2AP,RFXANK,SLC25A42,SUGP2,TM6SF2,TMEM161A,UPF1 chr19 18962697 19005368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS1,GDF1,UPF1 chr19 18962697 19005368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS1,GDF1,UPF1 chr19 18962703 19005625 Gain and loss Pancreatic cancer SNP array 17952125 CERS1,GDF1,UPF1 chr19 18981768 18981813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CERS1,GDF1 chr19 19005471 19029978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS1,COPE,GDF1 chr19 19005471 19029978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS1,COPE,GDF1 chr19 19005471 19029985 Gain and loss Pancreatic cancer SNP array 17952125 CERS1,COPE,GDF1 chr19 19032966 19033055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX49 chr19 1903526 1905548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAT3,SCAMP4 chr19 1903526 1905548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAT3,SCAMP4 chr19 1903530 1905548 Gain and loss Pancreatic cancer SNP array 17952125 ADAT3,SCAMP4 chr19 19035808 19084697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX49,HOMER3 chr19 19035808 19084697 Gain and loss Pancreatic cancer SNP array 17952125 DDX49,HOMER3 chr19 19035808 19084697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX49,HOMER3 chr19 19091429 19110270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SUGP2 chr19 19091429 19110270 Gain and loss Pancreatic cancer SNP array 17952125 SUGP2 chr19 19091429 19110270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUGP2 chr19 19104668 19104748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUGP2 chr19 19117376 19163933 Gain or loss Breast cancer - 20668451 ARMC6,SUGP2 chr19 19117376 19163933 Gain or loss Cancer - 20668451 ARMC6,SUGP2 chr19 19117376 19163933 Gain or loss Lung cancer - 20668451 ARMC6,SUGP2 chr19 19117376 19163933 Gain or loss Ovarian cancer - 20668451 ARMC6,SUGP2 chr19 19117376 19163933 Gain or loss Pancreas cancer - 20668451 ARMC6,SUGP2 chr19 19117376 19163933 Gain or loss Prostate cancer - 20668451 ARMC6,SUGP2 chr19 19117377 19163937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARMC6,SUGP2 chr19 19117377 19163937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC6,SUGP2 chr19 19117379 19163938 Gain and loss Pancreatic cancer SNP array 17952125 ARMC6,SUGP2 chr19 19118144 19119357 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SUGP2 chr19 19119019 19119292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUGP2 chr19 19148712 19163938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC6 chr19 19164008 19173678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARMC6 chr19 19164008 19173678 Gain and loss Pancreatic cancer SNP array 17952125 ARMC6 chr19 19164008 19173678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC6 chr19 19165404 19165467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARMC6 chr19 19173226 19175238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A42 chr19 19173226 19175238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A42 chr19 19173734 19175215 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A42 chr19 19183782 19224061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A42 chr19 19183782 19224061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A42 chr1 91918488 92144147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC7,HSP90B3P chr1 91918488 92144147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC7,HSP90B3P chr19 1918647 1919274 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 SCAMP4 chr19 19188763 19224040 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A42 chr19 19196501 19200500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A42 chr19 19200501 19242000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A42,TMEM161A chr19 19204664 19204733 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A42 chr19 19204664 19204733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A42 chr1 91920574 92144147 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CDC7,HSP90B3P chr19 19226557 19245178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM161A chr19 19226557 19245178 Gain and loss Pancreatic cancer SNP array 17952125 TMEM161A chr19 19226557 19245178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM161A chr19 19232446 19232519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM161A chr19 19236173 19245074 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TMEM161A chr19 19236174 19245074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM161A chr19 19236174 19245074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM161A chr19 19237469 19478787 Gain and loss Pancreatic cancer SNP array 17952125 HAPLN4,MAU2,MEF2B,MEF2BNB,MEF2BNB-MEF2B,NCAN,NR2C2AP,RFXANK,SUGP1,TM6SF2,TMEM161A chr19 19242001 19248000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM161A chr19 19247827 19292318 Gain and loss Pancreatic cancer SNP array 17952125 MEF2B,MEF2BNB,MEF2BNB-MEF2B,TMEM161A chr19 19248001 19312500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MEF2B,MEF2BNB,MEF2BNB-MEF2B,NR2C2AP,RFXANK,TMEM161A chr19 19248323 19292318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2B,MEF2BNB,MEF2BNB-MEF2B,TMEM161A chr19 19259083 19315372 Gain Normal Birdsuite, version 1.5.2 22087296 MEF2B,MEF2BNB,MEF2BNB-MEF2B,NR2C2AP,RFXANK chr19 19292614 19339989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEF2BNB,MEF2BNB-MEF2B,NCAN,NR2C2AP,RFXANK chr19 19292614 19339989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEF2BNB,MEF2BNB-MEF2B,NCAN,NR2C2AP,RFXANK chr19 19292644 19339992 Gain and loss Pancreatic cancer SNP array 17952125 MEF2BNB,MEF2BNB-MEF2B,NCAN,NR2C2AP,RFXANK chr19 19312501 19315000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NR2C2AP,RFXANK chr19 19315001 19326000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCAN chr19 19326001 19329000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCAN chr19 19329001 19458000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HAPLN4,MAU2,NCAN,SUGP1,TM6SF2 chr19 19347468 19347663 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCAN chr19 19350297 19350366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAN chr19 1936447 1966702 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1G2,CSNK1G2-AS1 chr19 1936447 1966702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1G2,CSNK1G2-AS1 chr19 19372165 19372210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HAPLN4 chr19 19399336 19480736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAU2,SUGP1 chr19 19399336 19480736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAU2,SUGP1 chr19 19406872 19406967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUGP1 chr19 19411922 19413018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUGP1 chr19 1943001 1991500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTBD2,CSNK1G2,CSNK1G2-AS1 chr19 19458001 19459500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAU2 chr19 19459501 19497000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GATAD2A,MAU2 chr19 19484230 19487357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 19484230 19487357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 19484230 19487838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 19487639 19500007 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2A chr19 19487799 19500007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19487799 19500007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19488822 19488922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 19497001 19527000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GATAD2A chr19 19500707 19509387 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2A chr19 19500720 19509393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19500720 19509393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19510057 19518466 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2A chr19 19510074 19518468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19510074 19518468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19527001 19535500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GATAD2A chr19 19533524 19590462 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2A chr19 19533524 19590725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19533524 19590725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19535501 19595500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GATAD2A chr19 19571108 19601729 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GATAD2A chr19 19586516 19586565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GATAD2A chr19 19595465 19600739 Gain or loss Breast cancer - 20668451 GATAD2A chr19 19595465 19600739 Gain or loss Cancer - 20668451 GATAD2A chr19 19595465 19600739 Gain or loss Lung cancer - 20668451 GATAD2A chr19 19595465 19600739 Gain or loss Ovarian cancer - 20668451 GATAD2A chr19 19595465 19600739 Gain or loss Pancreas cancer - 20668451 GATAD2A chr19 19595465 19600739 Gain or loss Prostate cancer - 20668451 GATAD2A chr19 19595477 19600018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19595477 19600018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19595477 19600739 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2A chr19 19595501 19642500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GATAD2A,NDUFA13,TSSK6,YJEFN3 chr19 19601285 19615417 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2A chr19 19601288 19615455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19601288 19615455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A chr19 19612894 19612939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GATAD2A chr19 1 961400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARID3A,AZU1,BSG,C19orf21,C2CD4C,CDC34,CFD,ELANE,FAM138A,FAM138F,FGF22,FLJ45445,FSTL3,GZMM,HCN2,KISS1R,LPPR3,MADCAM1,MED16,MIER2,MIR3187,MIR4745,ODF3L2,OR4F17,PALM,POLRMT,PPAP2C,PRSS57,PRTN3,PTBP1,R3HDM4,RNF126,SHC2,THEG,TPGS1,WASH5P chr19 19617009 19635479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A,NDUFA13,TSSK6 chr19 19617009 19635479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATAD2A,NDUFA13,TSSK6 chr19 19617012 19635878 Gain and loss Pancreatic cancer SNP array 17952125 GATAD2A,NDUFA13,TSSK6 chr19 19640605 19652412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CILP2,YJEFN3 chr19 19640605 19652412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CILP2,YJEFN3 chr19 19646659 19648728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YJEFN3 chr19 19649672 19652138 Gain and loss Pancreatic cancer SNP array 17952125 CILP2 chr19 19657241 19657320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CILP2 chr19 19663233 19663612 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 19676858 19708868 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PBX4 chr19 19679481 19724631 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PBX4 chr19 19682282 19704921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PBX4 chr19 19682282 19704921 Gain and loss Pancreatic cancer SNP array 17952125 PBX4 chr19 19682282 19704921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBX4 chr19 19687561 19708738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PBX4 chr19 19687866 19692655 Loss Normal 244K array 17666407 PBX4 chr19 19690023 19730171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PBX4 chr19 19693501 19702100 Deletion Glioma mate-paired sequence 20126413 PBX4 chr19 19693965 19700599 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PBX4 chr19 19695444 19700663 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PBX4 chr19 19696552 19700767 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PBX4 chr19 19699073 19700649 Loss Normal 244K array 17666407 PBX4 chr19 19709501 19711500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PBX4 chr19 19711501 19717500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PBX4 chr19 19716407 19716826 Gain and loss Pancreatic cancer SNP array 17952125 PBX4 chr19 19716893 19831113 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ATP13A1,GMIP,LPAR2,PBX4,ZNF101,ZNF14 chr19 19717501 19728000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PBX4 chr19 19728001 19730500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PBX4 chr19 19729916 19730266 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 19737029 19737129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPAR2 chr1 919739 934795 Gain and loss Pancreatic cancer SNP array 17952125 HES4 chr19 19747489 37612371 Loss Prostate cancer Array CGH 18632612 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP13A1,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GMIP,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HAVCR1P1,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00662,LINC00663,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100505835,LOC100506469,LOC100652909,LOC148145,LOC284395,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR1270-1,MIR1270-2,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,PLEKHF1,POLR2I,POP4,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,RPSAP58,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,VSTM2B,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF100,ZNF101,ZNF14,ZNF146,ZNF181,ZNF208,ZNF253,ZNF254,ZNF257,ZNF260,ZNF30,ZNF302,ZNF345,ZNF382,ZNF420,ZNF429,ZNF43,ZNF430,ZNF431,ZNF461,ZNF486,ZNF492,ZNF493,ZNF506,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF567,ZNF568,ZNF599,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF790,ZNF790-AS1,ZNF792,ZNF826P,ZNF829,ZNF85,ZNF850,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 19750939 19751033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GMIP chr19 19758378 19758462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP13A1 chr19 19766361 19793541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP13A1,ZNF101 chr19 19800000 26700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 HAVCR1P1,LINC00663,LOC400680,LOC440518,LOC641367,MIR1270-1,MIR1270-2,RPSAP58,ZNF100,ZNF14,ZNF208,ZNF253,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF506,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 19800000 26700000 Copy number Normal - 21701786 HAVCR1P1,LINC00663,LOC400680,LOC440518,LOC641367,MIR1270-1,MIR1270-2,RPSAP58,ZNF100,ZNF14,ZNF208,ZNF253,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF506,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 19800000 26700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 HAVCR1P1,LINC00663,LOC400680,LOC440518,LOC641367,MIR1270-1,MIR1270-2,RPSAP58,ZNF100,ZNF14,ZNF208,ZNF253,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF506,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 19800000 26700000 Loss Cancer array-based techniques 21183584 HAVCR1P1,LINC00663,LOC400680,LOC440518,LOC641367,MIR1270-1,MIR1270-2,RPSAP58,ZNF100,ZNF14,ZNF208,ZNF253,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF506,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 19800000 28500000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 HAVCR1P1,LINC00662,LINC00663,LOC400680,LOC440518,LOC641367,MIR1270-1,MIR1270-2,RPSAP58,ZNF100,ZNF14,ZNF208,ZNF253,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF506,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr19 19804910 19822214 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF14 chr19 19806955 19807176 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 19806955 19807176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 19837713 19865293 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF14 chr19 19837714 19865292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF14 chr19 19837714 19865292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF14 chr19 19848080 20497256 Deletion Nasopharyngeal cancer Partek Segmentation 20548289 LINC00663,ZNF253,ZNF486,ZNF506,ZNF682,ZNF90,ZNF93 chr19 19872755 19907860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00663,ZNF506 chr19 19872755 19907860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00663,ZNF506 chr19 19872786 19906766 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 LINC00663,ZNF506 chr19 1988469 2002243 Gain or loss Breast cancer - 20668451 BTBD2 chr19 1988469 2002243 Gain or loss Cancer - 20668451 BTBD2 chr19 1988469 2002243 Gain or loss Lung cancer - 20668451 BTBD2 chr19 1988469 2002243 Gain or loss Ovarian cancer - 20668451 BTBD2 chr19 1988469 2002243 Gain or loss Pancreas cancer - 20668451 BTBD2 chr19 1988469 2002243 Gain or loss Prostate cancer - 20668451 BTBD2 chr19 1988470 2002233 Gain and loss Pancreatic cancer SNP array 17952125 BTBD2 chr19 1988481 2002243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD2 chr19 1988481 2002243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD2 chr19 19887088 19906766 Gain and loss Pancreatic cancer SNP array 17952125 LINC00663,ZNF506 chr19 1991501 2001500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BTBD2 chr19 19934596 20654529 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1150K arrays 21546498 MIR1270-1,MIR1270-2,ZNF253,ZNF486,ZNF682,ZNF826P,ZNF90,ZNF93 chr19 19975566 20155520 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ZNF253,ZNF682,ZNF93 chr19 19976226 20011064 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ZNF253 chr19 19976226 20011277 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF253 chr19 19976227 20011277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF253 chr19 19976227 20011277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF253 chr19 19977058 20002924 Gain and loss Pancreatic cancer SNP array 17952125 ZNF253 chr19 20000000 24400000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 HAVCR1P1,LOC400680,LOC440518,LOC641367,MIR1270-1,MIR1270-2,RPSAP58,ZNF100,ZNF208,ZNF253,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF626,ZNF675,ZNF676,ZNF681,ZNF682,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99 chr1 92000000 111600000 Insersion Autism three-colour fluorescence in situ hybridisation 17483303 ABCA4,ABCD3,ACTG1P4,AGL,AHCYL1,AKNAD1,ALG14,ALX3,AMIGO1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,ATXN7L2,BCAR3,BRDT,BTBD8,C1orf146,C1orf194,CCDC18,CD53,CDC14A,CELSR2,CLCC1,CNN3,COL11A1,CSF1,CYB561D1,CYMP,DBT,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,EPHX4,EPS8L3,EVI5,EXTL2,F3,FAM102B,FAM40A,FAM69A,FLJ31662,FNBP1L,FNDC7,FRRS1,GCLM,GFI1,GLMN,GNAI3,GNAT2,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,HIAT1,HSP90B3P,KCNA10,KCNA2,KCNA3,KCNC4,KIAA1107,KIAA1324,LAMTOR5,LOC100128787,LOC100129046,LOC100129138,LOC100129620,LOC100131564,LOC440600,LOC729970,LOC729987,LPPR4,LPPR5,LRIF1,LRRC39,MIR137,MIR137HG,MIR197,MIR2682,MIR548AA1,MIR548D1,MIR553,MIR760,MTF2,MYBPHL,NBPF4,NBPF6,NTNG1,OLFM3,PALMD,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTBP2,RBM15,RNPC3,RNU6-6,RPAP2,RPL5,RTCA,RWDD3,S1PR1,SARS,SASS6,SCARNA2,SLC16A4,SLC25A24,SLC30A7,SLC35A3,SLC44A3,SLC6A17,SNORA66,SNORD21,SNX7,SORT1,SRG7,STXBP3,SYPL2,TAF13,TGFBR3,TMED5,TMEM167B,TMEM56,TMEM56-RWDD3,TRMT13,UBL4B,VAV3,VAV3-AS1,VCAM1,WDR47 chr1 92000000 247249719 Gain Medulloblastoma SNP arrays 21979893 ABCA4,ABCB10,ABCD3,ABL2,ACBD3,ACBD6,ACP6,ACTA1,ACTG1P4,ACTN2,ADAM15,ADAM30,ADAMTS4,ADAMTSL4,ADAR,ADCK3,ADCY10,ADIPOR1,ADORA1,ADORA3,ADSS,AGL,AGT,AHCTF1,AHCYL1,AIDA,AIM2,AKNAD1,AKR7A2P1,AKT3,ALDH9A1,ALG14,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGEL2,ANGPTL1,ANKRD20A12P,ANKRD34A,ANKRD35,ANKRD36BP1,ANKRD45,ANP32E,ANXA9,AP4B1,AP4B1-AS1,APCS,APH1A,APOA1BP,APOA2,APOBEC4,AQP10,ARF1,ARHGAP29,ARHGAP30,ARHGEF11,ARHGEF2,ARID4B,ARL8A,ARNT,ARPC5,ARV1,ASCL5,ASH1L,ASH1L-AS1,ASPM,ASTN1,ATF3,ATF6,ATP1A1,ATP1A1OS,ATP1A2,ATP1A4,ATP1B1,ATP2B4,ATP5F1,ATP6V1G3,ATP8B2,ATXN7L2,AURKAPS1,AVPR1B,AXDND1,B3GALNT2,B3GALT2,B4GALT3,BATF3,BCAN,BCAR3,BCAS2,BCL2L15,BCL9,BGLAP,BLZF1,BNIPL,BOLA1,BPNT1,BRDT,BROX,BTBD8,BTG2,C1orf100,C1orf101,C1orf105,C1orf106,C1orf110,C1orf111,C1orf112,C1orf114,C1orf115,C1orf116,C1orf129,C1orf131,C1orf140,C1orf145,C1orf146,C1orf162,C1orf186,C1orf189,C1orf192,C1orf194,C1orf198,C1orf204,C1orf21,C1orf220,C1orf226,C1orf227,C1orf27,C1orf31,C1orf35,C1orf43,C1orf51,C1orf53,C1orf54,C1orf56,C1orf61,C1orf65,C1orf68,C1orf74,C1orf85,C1orf88,C1orf95,C1orf98,C2CD4D,C4BPA,C4BPB,CA14,CACNA1E,CACNA1S,CACYBP,CADM3,CAMK1G,CAMSAP2,CAPN2,CAPN8,CAPN9,CAPZA1,CASQ1,CASQ2,CCDC18,CCDC19,CCSAP,CCT3,CD101,CD160,CD1A,CD1B,CD1C,CD1D,CD1E,CD2,CD244,CD247,CD34,CD46,CD48,CD53,CD55,CD58,CD5L,CD84,CDC14A,CDC42BPA,CDC42SE1,CDC73,CDK18,CELF3,CELSR2,CENPF,CENPL,CEP170,CEP350,CEPT1,CERS2,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CGN,CHD1L,CHI3L1,CHI3L2,CHIA,CHIT1,CHML,CHRM3,CHRNB2,CHTOP,CKS1B,CLCC1,CLK2,CNIH3,CNIH4,CNN3,CNST,CNTN2,COG2,COL11A1,COPA,COX20,CR1,CR1L,CR2,CRABP2,CRB1,CRCT1,CREB3L4,CREG1,CRNN,CRP,CRTC2,CSDE1,CSF1,CSRP1,CTSE,CTSK,CTSS,CTTNBP2NL,CYB561D1,CYB5R1,CYCSP52,CYMP,DAP3,DARC,DARS2,DBT,DCAF6,DCAF8,DCLRE1B,DCST1,DCST2,DDR2,DDX20,DDX59,DEDD,DEGS1,DENND1B,DENND2C,DENND2D,DENND4B,DESI2,DHX9,DIEXF,DISC1,DISC2,DISP1,DNAH14,DNAJA1P5,DNM3,DNM3OS,DNTTIP2,DPH5,DPM3,DPT,DPYD,DPYD-AS1,DR1,DRAM2,DSTYK,DTL,DUSP10,DUSP12,DUSP23,DUSP27,DUSP5P,DYRK3,ECM1,EDARADD,EDEM3,EFCAB2,EFNA1,EFNA3,EFNA4,EGLN1,EIF2D,ELF3,ELK4,EMBP1,ENAH,ENSA,EPHX1,EPHX4,EPRS,EPS8L3,ERO1LB,ESRRG,ETNK2,ETV3,ETV3L,EVI5,EXO1,EXOC8,EXTL2,F11R,F13B,F3,F5,FAIM3,FAM102B,FAM129A,FAM163A,FAM177B,FAM189B,FAM19A3,FAM20B,FAM212B,FAM40A,FAM46C,FAM58BP,FAM5B,FAM5C,FAM63A,FAM69A,FAM71A,FAM72A,FAM72B,FAM72D,FAM78B,FAM89A,FAM91A2,FASLG,FBXO28,FCAMR,FCER1A,FCER1G,FCGR1A,FCGR1B,FCGR1C,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRL1,FCRL2,FCRL3,FCRL4,FCRL5,FCRL6,FCRLA,FCRLB,FDPS,FH,FLAD1,FLG,FLG2,FLJ23867,FLJ31662,FLJ39739,FLVCR1,FLVCR1-AS1,FMN2,FMO1,FMO2,FMO3,FMO4,FMO5,FMO6P,FMO9P,FMOD,FNBP1L,FNDC7,FRRS1,G0S2,GABPB2,GALNT2,GAS5,GAS5-AS1,GATAD2B,GBA,GBAP1,GCLM,GDAP2,GFI1,GGPS1,GJA5,GJA8,GJC2,GLMN,GLRX2,GLT25D2,GLUL,GM140,GNAI3,GNAT2,GNG4,GNPAT,GNRHR2,GOLPH3L,GOLT1A,GON4L,GORAB,GPA33,GPATCH2,GPATCH4,GPR137B,GPR161,GPR25,GPR37L1,GPR52,GPR61,GPR88,GPR89A,GPR89B,GPR89C,GPSM2,GREM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GUK1,H3F3A,H3F3AP4,HAO2,HAPLN2,HAX1,HCN3,HDGF,HEATR1,HENMT1,HFE2,HHAT,HHIPL2,HIAT1,HIPK1,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BA,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,HIST3H2A,HIST3H2BB,HIST3H3,HLX,HMCN1,HMGCS2,HNRNPU,HNRNPU-AS1,HORMAD1,HRNR,HSD11B1,HSD17B7,HSD3B1,HSD3B2,HSD3BP4,HSP90B3P,HSPA6,HSPA7,HYDIN2,IARS2,IBA57,IER5,IFI16,IGFN1,IGSF3,IGSF8,IGSF9,IKBKE,IL10,IL19,IL20,IL24,IL6R,ILDR2,ILF2,INSRR,INTS3,INTS7,IPO9,IQGAP3,IRF2BP2,IRF6,ISG20L2,ITGA10,ITLN1,ITLN2,ITPKB,IVL,IVNS1ABP,JMJD4,JTB,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KCNH1,KCNJ10,KCNJ9,KCNK1,KCNK2,KCNN3,KCNT2,KCTD3,KDM5B,KDM5B-AS1,KIAA0040,KIAA0907,KIAA1107,KIAA1324,KIAA1383,KIAA1614,KIAA1804,KIF14,KIF21B,KIF26B,KIFAP3,KIRREL,KISS1,KLHDC8A,KLHDC9,KLHL12,KLHL20,KMO,KPRP,KRTCAP2,LAD1,LAMB3,LAMC1,LAMC2,LAMTOR2,LAMTOR5,LAX1,LBR,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,LEFTY1,LEFTY2,LELP1,LEMD1,LEMD1-AS1,LENEP,LGALS8,LGALS8-AS1,LGR6,LHX4,LHX9,LIN9,LINC00184,LINC00210,LINC00260,LINC00272,LINC00303,LINC00467,LINC00538,LINC00568,LINC00582,LINC00622,LINC00623,LINC00624,LINC00626,LINC00628,LINGO4,LIX1L,LMNA,LMOD1,LMX1A,LOC100128787,LOC100129046,LOC100129138,LOC100129269,LOC100129620,LOC100130000,LOC100130093,LOC100130331,LOC100131234,LOC100131564,LOC100131825,LOC100132111,LOC100286793,LOC100288079,LOC100505633,LOC100505666,LOC100505795,LOC100505918,LOC100506023,LOC100506343,LOC100506795,LOC100506810,LOC100527964,LOC148696,LOC148709,LOC149134,LOC149373,LOC255654,LOC284578,LOC284581,LOC284648,LOC284688,LOC339529,LOC339535,LOC388692,LOC400794,LOC401980,LOC440600,LOC440700,LOC440704,LOC641515,LOC643355,LOC643441,LOC643723,LOC645166,LOC646268,LOC653513,LOC728463,LOC728875,LOC728989,LOC729970,LOC729987,LOC730102,LOC730159,LOC730227,LOC731275,LOR,LPGAT1,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,LRRC52,LRRC71,LRRN2,LY9,LYPLAL1,LYSMD1,LYST,MAB21L3,MAEL,MAGI3,MAN1A2,MAP1LC3C,MAPKAPK2,MARC1,MARC2,MARK1,MCL1,MDM4,MEF2D,METTL11B,METTL13,METTL18,MEX3A,MFSD4,MGST3,MIA3,MIR1182,MIR1231,MIR1278,MIR1295A,MIR1295B,MIR135B,MIR137,MIR137HG,MIR1537,MIR181A1,MIR181B1,MIR190B,MIR194-1,MIR197,MIR199A2,MIR205,MIR205HG,MIR214,MIR215,MIR2682,MIR29B2,MIR29C,MIR3119-1,MIR3119-2,MIR3120,MIR3121,MIR3122,MIR3123,MIR320B1,MIR320B2,MIR3620,MIR3658,MIR4256,MIR4257,MIR4258,MIR4260,MIR4424,MIR4427,MIR4654,MIR4666A,MIR4671,MIR4677,MIR4735,MIR4742,MIR4753,MIR488,MIR5008,MIR5087,MIR5187,MIR5191,MIR548AA1,MIR548D1,MIR548F1,MIR553,MIR554,MIR555,MIR556,MIR557,MIR664,MIR760,MIR765,MIR9-1,MIR921,MIR92B,MIR942,MIXL1,MLLT11,MNDA,MOV10,MPC2,MPZ,MPZL1,MR1,MRPL24,MRPL55,MRPL9,MRPS14,MRPS21,MSTO1,MSTO2P,MTF2,MTMR11,MTR,MTX1,MUC1,MYBPH,MYBPHL,MYOC,MYOG,NAV1,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF4,NBPF6,NBPF7,NBPF9,NCF2,NCSTN,NDUFS2,NEK2,NEK7,NENF,NES,NFASC,NGF,NHLH1,NHLH2,NID1,NIT1,NME7,NMNAT2,NOS1AP,NOTCH2,NOTCH2NL,NPHS2,NPL,NPR1,NR1I3,NR5A2,NRAS,NSL1,NTNG1,NTPCR,NTRK1,NUAK2,NUCKS1,NUDT17,NUF2,NUP133,NUP210L,NVL,OAZ3,OBSCN,OCLM,OLFM3,OLFML2B,OLFML3,OPN3,OPTC,OR10J1,OR10J3,OR10J5,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,OTUD7B,OVGP1,PALMD,PAPPA2,PAQR6,PARP1,PBX1,PBXIP1,PCNXL2,PCP4L1,PDC,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEA15,PEAR1,PEX11B,PEX19,PFDN2,PFKFB2,PFN1P2,PGBD5,PGCP1,PGLYRP3,PGLYRP4,PHGDH,PHLDA3,PHTF1,PI4KB,PIAS3,PIGC,PIGM,PIGR,PIK3C2B,PIP5K1A,PKLR,PKP1,PLA2G4A,PLD5,PLEKHA6,PLEKHO1,PLXNA2,PM20D1,PMF1,PMF1-BGLAP,PMVK,POGK,POGZ,POLR3C,POLR3GL,POU2F1,POU5F1P4,PPFIA4,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PPIAL4G,PPM1J,PPOX,PPP1R12B,PPP1R15B,PPP2R5A,PRCC,PRDX6,PRELP,PRG4,PRKAB2,PRMT6,PROK1,PROX1,PRPF3,PRPF38B,PRR9,PRRC2C,PRRX1,PRSS38,PRUNE,PSEN2,PSMA5,PSMB4,PSMD4,PSRC1,PTBP2,PTGFRN,PTGS2,PTPN14,PTPN22,PTPN7,PTPRC,PTPRVP,PVRL4,PYCR2,PYGO2,PYHIN1,QSOX1,RAB13,RAB25,RAB3GAP2,RAB4A,RAB7L1,RABGAP1L,RABIF,RALGPS2,RAP1A,RASAL2,RASAL2-AS1,RASSF5,RBBP5,RBM15,RBM34,RBM8A,RC3H1,RCOR3,RCSD1,RD3,REG4,REN,RFWD2,RFX5,RGL1,RGS1,RGS13,RGS16,RGS18,RGS2,RGS21,RGS4,RGS5,RGS7,RGS8,RGSL1,RHBG,RHOC,RHOU,RIIAD1,RIT1,RNASEL,RNF115,RNF187,RNF2,RNPC3,RNPEP,RNU5F-1,RNU6-6,RNU6-72,RNU6-79,RORC,RP11-165H20.1,RPAP2,RPL31P11,RPL5,RPRD2,RPS10P7,RPS27,RPS6KC1,RPS7P5,RPTN,RRNAD1,RRP15,RSBN1,RTCA,RUSC1,RUSC1-AS1,RWDD3,RXFP4,RXRG,RYR2,S100A1,S100A10,S100A11,S100A12,S100A13,S100A14,S100A16,S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7A,S100A7L2,S100A8,S100A9,S1PR1,SARS,SASS6,SCAMP3,SCARNA2,SCARNA3,SCARNA4,SCCPDH,SCNM1,SCYL3,SDCCAG8,SDE2,SDHC,SEC16B,SEC22B,SELE,SELENBP1,SELL,SELP,SEMA4A,SEMA6C,SERPINC1,SERTAD4,SERTAD4-AS1,SETDB1,SF3B4,SFT2D2,SH2D1B,SH2D2A,SHC1,SHCBP1L,SHE,SHISA4,SIKE1,SIPA1L2,SLAMF1,SLAMF6,SLAMF7,SLAMF8,SLAMF9,SLC16A1,SLC16A4,SLC19A2,SLC22A15,SLC25A24,SLC25A44,SLC26A9,SLC27A3,SLC30A1,SLC30A10,SLC30A7,SLC35A3,SLC35F3,SLC39A1,SLC41A1,SLC44A3,SLC45A3,SLC50A1,SLC6A17,SLC9C2,SMCP,SMG5,SMG7,SMG7-AS1,SMYD2,SMYD3,SNAP47,SNAPIN,SNORA14B,SNORA16B,SNORA36B,SNORA42,SNORA66,SNORA77,SNORD21,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,SNRPD2P2,SNRPE,SNX27,SNX7,SOAT1,SORT1,SOX13,SPAG17,SPATA17,SPHAR,SPRR1A,SPRR1B,SPRR2A,SPRR2B,SPRR2C,SPRR2D,SPRR2E,SPRR2F,SPRR2G,SPRR3,SPRR4,SPRTN,SPTA1,SRG7,SRGAP2,SRGAP2B,SRP9,SSR2,ST7L,STX6,STXBP3,SUCO,SUMO1P3,SUSD4,SV2A,SWT1,SYCP1,SYPL2,SYT11,SYT14,SYT2,SYT6,TADA1,TAF13,TAF1A,TAF5L,TAGLN2,TARBP1,TARS2,TATDN3,TBCE,TBX15,TBX19,TCHH,TCHHL1,TDRD10,TDRD5,TDRKH,TEDDM1,TEX35,TFB2M,TGFB2,TGFBR3,THBS3,THEM4,THEM5,TIMM17A,TIPRL,TLR5,TMCC2,TMCO1,TMED5,TMEM167B,TMEM183A,TMEM183B,TMEM206,TMEM56,TMEM56-RWDD3,TMEM63A,TMEM79,TMEM81,TMEM9,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,TNFSF18,TNFSF4,TNN,TNNI1,TNNT2,TNR,TOMM20,TOMM40L,TOP1P1,TOR1AIP1,TOR1AIP2,TOR3A,TP53BP2,TPM3,TPR,TRAF3IP3,TRAF5,TRIM11,TRIM17,TRIM33,TRIM45,TRIM46,TRIM67,TRMT13,TRMT1L,TROVE2,TSACC,TSEN15,TSHB,TSNAX,TSNAX-DISC1,TSPAN2,TSTD1,TTC13,TTC24,TTF2,TUFT1,TXNIP,UAP1,UBAP2L,UBE2Q1,UBE2T,UBL4B,UBQLN4,UCHL5,UCK2,UFC1,UHMK1,URB2,USF1,USH2A,USP21,VAMP4,VANGL1,VANGL2,VASH2,VAV3,VAV3-AS1,VCAM1,VHLL,VPS45,VPS72,VSIG8,VTCN1,WARS2,WDR26,WDR3,WDR47,WDR64,WDR77,WNT2B,WNT3A,WNT9A,XCL1,XCL2,XPR1,YOD1,YY1AP1,ZBED6,ZBTB37,ZBTB41,ZBTB7B,ZC3H11A,ZNF238,ZNF281,ZNF648,ZNF670,ZNF670-ZNF695,ZNF678,ZNF687,ZNF695,ZNF697,ZNF847P,ZP4 chr1 92000000 94500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA4,BCAR3,BRDT,BTBD8,C1orf146,CCDC18,DNTTIP2,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GCLM,GFI1,GLMN,HSP90B3P,KIAA1107,LOC100129046,LOC100131564,MIR760,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr1 92000000 94500000 Gain Multiple myeloma CGH, FISH 16461302 ABCA4,BCAR3,BRDT,BTBD8,C1orf146,CCDC18,DNTTIP2,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GCLM,GFI1,GLMN,HSP90B3P,KIAA1107,LOC100129046,LOC100131564,MIR760,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr1 92000000 94500000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 ABCA4,BCAR3,BRDT,BTBD8,C1orf146,CCDC18,DNTTIP2,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GCLM,GFI1,GLMN,HSP90B3P,KIAA1107,LOC100129046,LOC100131564,MIR760,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr1 92000000 94700000 Amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 ABCA4,ARHGAP29,BCAR3,BRDT,BTBD8,C1orf146,CCDC18,DNTTIP2,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GCLM,GFI1,GLMN,HSP90B3P,KIAA1107,LOC100129046,LOC100131564,MIR760,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr1 92000000 94700000 Copy number Prostate cancer 250K Sty SNP Array 19156837 ABCA4,ARHGAP29,BCAR3,BRDT,BTBD8,C1orf146,CCDC18,DNTTIP2,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GCLM,GFI1,GLMN,HSP90B3P,KIAA1107,LOC100129046,LOC100131564,MIR760,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr1 9200000 12600000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf127,C1orf200,CASZ1,CLCN6,CLSTN1,CORT,CTNNBIP1,DFFA,DRAXIN,EXOSC10,FBXO2,FBXO44,FBXO6,H6PD,KIAA2013,KIF1B,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PEX14,PGD,PIK3CD,PLOD1,PTCHD2,RBP7,SLC25A33,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TMEM201,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,VPS13D chr1 9200000 12700000 Deletion Colorectal cancer GISTIC software 19359472 AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf127,C1orf200,CASZ1,CLCN6,CLSTN1,CORT,CTNNBIP1,DFFA,DHRS3,DRAXIN,EXOSC10,FBXO2,FBXO44,FBXO6,H6PD,KIAA2013,KIF1B,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PEX14,PGD,PIK3CD,PLOD1,PTCHD2,RBP7,SLC25A33,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TMEM201,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,VPS13D chr1 9200000 12700000 Loss and deletion Multiple myeloma Array CGH 16616336 AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf127,C1orf200,CASZ1,CLCN6,CLSTN1,CORT,CTNNBIP1,DFFA,DHRS3,DRAXIN,EXOSC10,FBXO2,FBXO44,FBXO6,H6PD,KIAA2013,KIF1B,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PEX14,PGD,PIK3CD,PLOD1,PTCHD2,RBP7,SLC25A33,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TMEM201,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,VPS13D chr1 9200000 16100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AADACL3,AADACL4,AGMAT,AGTRAP,ANGPTL7,APITD1,APITD1-CORT,C1orf126,C1orf127,C1orf158,C1orf200,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLSTN1,CORT,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC16,DRAXIN,EFHD2,EXOSC10,FBLIM1,FBXO2,FBXO44,FBXO6,FHAD1,H6PD,HNRNPCL1,KAZN,KIAA2013,KIF1B,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFN2,MIIP,MIR34A,MIR4632,MTHFR,MTOR,MTOR-AS1,NMNAT1,NPPA,NPPA-AS1,NPPB,PDPN,PEX14,PGD,PIK3CD,PLEKHM2,PLOD1,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RSC1A1,SLC25A33,SLC25A34,SNORA59A,SNORA59B,SPSB1,SRM,TARDBP,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,VPS13D chr1 9200000 20300000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AADACL3,AADACL4,ACTL8,AGMAT,AGTRAP,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ANGPTL7,APITD1,APITD1-CORT,ARHGEF10L,ARHGEF19,ATP13A2,C1orf126,C1orf127,C1orf151-NBL1,C1orf158,C1orf200,C1orf64,CAPZB,CASP9,CASZ1,CELA2A,CELA2B,CLCN6,CLCNKA,CLCNKB,CLSTN1,CORT,CROCC,CROCCP2,CROCCP3,CTNNBIP1,CTRC,DDI2,DFFA,DHRS3,DNAJC16,DRAXIN,EFHD2,EMC1,EPHA2,ESPNP,EXOSC10,FAM131C,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FHAD1,FLJ37453,H6PD,HNRNPCL1,HSPB7,HTR6,IFFO2,IGSF21,KAZN,KIAA2013,KIF1B,KLHDC7A,LOC100506730,LOC440563,LOC649330,LRRC38,LZIC,MAD2L2,MASP2,MFAP2,MFN2,MIIP,MINOS1,MIR34A,MIR3675,MIR4632,MIR4695,MRTO4,MST1P2,MST1P9,MTHFR,MTOR,MTOR-AS1,NBL1,NBPF1,NECAP2,NMNAT1,NPPA,NPPA-AS1,NPPB,OTUD3,PADI1,PADI2,PADI3,PADI4,PADI6,PAX7,PDPN,PEX14,PGD,PIK3CD,PLA2G2E,PLEKHM2,PLOD1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM2,PTCHD2,RBP7,RCC2,RNF186,RSC1A1,RSG1,SDHB,SLC25A33,SLC25A34,SNORA59A,SNORA59B,SPATA21,SPEN,SPSB1,SRM,SZRD1,TARDBP,TAS1R2,TMCO4,TMEM201,TMEM51,TMEM82,TNFRSF1B,TNFRSF8,UBE4B,UBIAD1,UBR4,UQCRHL,VPS13D,ZBTB17 chr19 2001501 2408500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMH,AP3D1,BTBD2,C19orf35,DOT1L,IZUMO4,JSRP1,LINGO3,LSM7,MIR1227,MIR4321,MKNK2,MOB3A,OAZ1,PLEKHJ1,SF3A2,SPPL2B,TMPRSS9 chr19 20028401 20290544 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZNF486,ZNF682,ZNF90,ZNF93 chr19 20037717 20038026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF93 chr19 20041433 20041748 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF93 chr1 92004650 92005921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 92004671 92006010 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 20049802 20092977 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 20049803 20089948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20052008 20052348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20060709 20061818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 92007142 92023072 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr1 92007352 92007610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 20076048 20089948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 20096844 20097293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 20103703 20210261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF682,ZNF90 chr19 20114007 20272000 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ZNF682,ZNF90 chr19 20139023 20169892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF682 chr19 20139041 20169194 Gain and loss Pancreatic cancer SNP array 17952125 ZNF682 chr19 20174267 20176988 Loss Normal 244K array 17666407 NOT_FOUND chr19 2022037 2047304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKNK2 chr19 2022037 2047304 Gain and loss Pancreatic cancer SNP array 17952125 MKNK2 chr19 2022037 2047304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKNK2 chr19 20226212 24388591 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 HAVCR1P1,LOC400680,LOC440518,LOC641367,MIR1270-1,MIR1270-2,RPSAP58,ZNF100,ZNF208,ZNF254,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF486,ZNF492,ZNF493,ZNF626,ZNF675,ZNF676,ZNF681,ZNF708,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF90,ZNF91,ZNF98,ZNF99 chr19 20229529 20231227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF90 chr19 20229529 20231227 Gain and loss Pancreatic cancer SNP array 17952125 ZNF90 chr19 20229529 20231227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF90 chr1 92029228 94254061 Loss Malignant melanoma BAC array CGH 17260012 BCAR3,BRDT,BTBD8,C1orf146,CCDC18,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GFI1,GLMN,HSP90B3P,KIAA1107,LOC100129046,LOC100131564,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr19 20302751 20303431 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF486 chr19 20315185 20360870 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 20321226 20519347 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR1270-1,MIR1270-2 chr19 20321226 20637787 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR1270-1,MIR1270-2,ZNF826P chr19 20331564 20779390 Copy number Normal - 20703242 MIR1270-1,MIR1270-2,ZNF737,ZNF826P chr19 20334327 20334431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20334553 20360870 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 20341241 20343121 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 2035101 2050583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKNK2 chr19 2035101 2050583 Gain and loss Pancreatic cancer SNP array 17952125 MKNK2 chr19 2035101 2050583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKNK2 chr19 20362702 20521721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1270-1,MIR1270-2 chr19 20367561 20508217 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20367561 20513074 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR1270-1,MIR1270-2 chr19 20367763 20399602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20367763 20399602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20368239 20528316 Copy number Type 2 diabetes ILLumia HumanHap301 BeadChip 21526130 MIR1270-1,MIR1270-2 chr19 20369292 20520788 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2 chr19 20370872 20521031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1270-1,MIR1270-2 chr19 20371080 20371162 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 20371080 20371162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20372315 20508217 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20375101 20381900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 20375368 20513987 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2 chr19 20375411 20508217 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20375411 20508217 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20376991 20379842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 20376996 20379847 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 20377095 20505663 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr19 20379977 20508217 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20379977 20508217 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20379977 20513074 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR1270-1,MIR1270-2 chr19 20383239 20425030 Loss Normal 244K array 17666407 NOT_FOUND chr19 20384800 20510816 Loss or gain Normal 244K array 17666407 MIR1270-1,MIR1270-2 chr19 20385317 20508217 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20385317 20513290 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR1270-1,MIR1270-2 chr19 20385962 21113072 LOH Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2,ZNF626,ZNF737,ZNF826P,ZNF85 chr19 20386147 20386516 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 20386516 20388045 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 20386516 20508217 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20386516 20516807 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR1270-1,MIR1270-2 chr19 20386517 20513289 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 MIR1270-1,MIR1270-2 chr19 20387650 20509814 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 20387675 20509639 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 20388034 20508217 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20388034 20508217 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20388034 20508242 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 NOT_FOUND chr19 20388034 20513074 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR1270-1,MIR1270-2 chr19 20388034 20518462 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR1270-1,MIR1270-2 chr19 20388045 20388046 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 20388046 20513077 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MIR1270-1,MIR1270-2 chr19 20388046 20513077 Gain or loss Normal Birdsuite, version 1.5.2 22087296 MIR1270-1,MIR1270-2 chr19 20390271 20493281 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 20390271 20503591 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20390271 20508217 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20390271 20508217 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20390271 20508217 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 20390271 20513074 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR1270-1,MIR1270-2 chr19 20390377 20508217 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20390597 20508217 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20395158 20508217 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 20395366 20507134 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 20395366 20509444 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 20395366 20509444 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 20395366 20509444 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 20395366 20513987 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2 chr19 20395366 20513987 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2 chr19 20395366 20513987 Total allelic loss Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2 chr19 20395366 20519539 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2 chr19 20395366 20549549 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2 chr19 20395366 20557699 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2 chr19 20400402 20508217 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 20422200 20520617 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 MIR1270-1,MIR1270-2 chr19 2045825 2045883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MKNK2 chr19 20461247 20461347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 20473895 20679070 Loss Autism - 20841430 MIR1270-1,MIR1270-2,ZNF826P chr19 20503841 20509813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 20512779 23421159 Substitutions and indels small cell lung cancer array-CGH 20016488 LOC400680,LOC440518,LOC641367,MIR1270-1,MIR1270-2,ZNF100,ZNF208,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF492,ZNF493,ZNF626,ZNF676,ZNF708,ZNF714,ZNF724P,ZNF728,ZNF729,ZNF737,ZNF738,ZNF826P,ZNF85,ZNF98,ZNF99 chr19 20513077 20513302 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 20513987 21138038 LOH Normal High-resolution SNP genotyping 21211785 MIR1270-1,MIR1270-2,ZNF626,ZNF737,ZNF826P,ZNF85 chr19 20519337 20599769 Copy number Autism Illumina Humanhap300 Beadchips 19492091 MIR1270-1,MIR1270-2,ZNF826P chr19 20519337 20599769 Gain and loss Pancreatic cancer SNP array 17952125 MIR1270-1,MIR1270-2,ZNF826P chr19 2051993 2102556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP3D1,IZUMO4,MOB3A chr19 2051993 2102556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP3D1,IZUMO4,MOB3A chr19 2051995 2102554 Gain and loss Pancreatic cancer SNP array 17952125 AP3D1,IZUMO4,MOB3A chr19 20534817 20552262 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 20549549 21884760 LOH Normal High-resolution SNP genotyping 21211785 LOC400680,MIR1270-1,MIR1270-2,ZNF429,ZNF430,ZNF431,ZNF493,ZNF626,ZNF708,ZNF714,ZNF737,ZNF738,ZNF826P,ZNF85 chr19 2055442 2055525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 20557699 21884760 LOH Normal High-resolution SNP genotyping 21211785 LOC400680,MIR1270-1,MIR1270-2,ZNF429,ZNF430,ZNF431,ZNF493,ZNF626,ZNF708,ZNF714,ZNF737,ZNF738,ZNF826P,ZNF85 chr19 20592635 20593903 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF826P chr19 20594586 20636246 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF826P chr19 20594586 20636246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF826P chr19 20606651 20606751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF826P chr19 20620042 20621051 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 20621419 20769166 Duplication Normal Affymetrix 6.0 microarrays 20967226 ZNF737 chr19 20643736 20777265 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ZNF737 chr1 92067919 92068177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 92067921 92068219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20702164 23131040 LOH Normal High-resolution SNP genotyping 21211785 LOC400680,LOC440518,LOC641367,ZNF100,ZNF208,ZNF257,ZNF429,ZNF43,ZNF430,ZNF431,ZNF492,ZNF493,ZNF626,ZNF676,ZNF708,ZNF714,ZNF729,ZNF737,ZNF738,ZNF85,ZNF98,ZNF99 chr19 20719127 22186792 LOH Normal High-resolution SNP genotyping 21211785 LOC400680,LOC641367,ZNF100,ZNF208,ZNF429,ZNF43,ZNF430,ZNF431,ZNF493,ZNF626,ZNF708,ZNF714,ZNF737,ZNF738,ZNF85 chr19 20723475 21565060 LOH Normal High-resolution SNP genotyping 21211785 ZNF430,ZNF431,ZNF626,ZNF708,ZNF714,ZNF737,ZNF738,ZNF85 chr19 20771834 20772151 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 20788700 20800678 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 2079442 2080036 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MOB3A chr19 20810000 63790000 Gain Ductal carcinoma SNP array 22052326 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HAVCR1P1,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00662,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF100,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF492,ZNF493,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF626,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF701,ZNF702P,ZNF708,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF738,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF85,ZNF850,ZNF865,ZNF880,ZNF91,ZNF98,ZNF99,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 20823633 21917935 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 LOC400680,ZNF100,ZNF429,ZNF430,ZNF431,ZNF493,ZNF626,ZNF708,ZNF714,ZNF738,ZNF85 chr19 20854881 20856164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 20862316 20862416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 20877999 20908466 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 20897919 20925343 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 20897922 20925341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20897922 20925341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20908669 20925341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 20935754 20938016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20937200 20937555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 20949267 20949451 Gain Normal 244K array 17666407 NOT_FOUND chr19 20958416 21612069 LOH Normal High-resolution SNP genotyping 21211785 ZNF430,ZNF431,ZNF493,ZNF708,ZNF714,ZNF738,ZNF85 chr19 20958416 21618892 LOH Normal High-resolution SNP genotyping 21211785 ZNF430,ZNF431,ZNF493,ZNF708,ZNF714,ZNF738,ZNF85 chr19 20978765 21011480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 20984736 21194590 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ZNF85 chr19 20995336 21033493 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 20995337 21033493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20995337 21033493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 20997434 21033493 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 210000 1810000 Loss Acute lymphoblastic leukemia - 21339820 ABCA7,ADAMTSL5,APC2,ARID3A,ATP5D,ATP8B3,AZU1,BSG,C19orf21,C19orf24,C19orf25,C19orf26,C19orf6,C2CD4C,CDC34,CFD,CIRBP,CIRBP-AS1,CNN2,DAZAP1,EFNA2,ELANE,FGF22,FSTL3,GAMT,GPX4,GRIN3B,GZMM,HCN2,HMHA1,KISS1R,LPPR3,MADCAM1,MBD3,MED16,MEX3D,MIDN,MIER2,MIR3187,MIR4745,MUM1,NDUFS7,ODF3L2,ONECUT3,PALM,PCSK4,PLK5,POLR2E,POLRMT,PPAP2C,PRSS57,PRTN3,PTBP1,R3HDM4,REEP6,RNF126,RPS15,SBNO2,SHC2,STK11,TCF3,THEG,TPGS1,UQCR11,WDR18 chr19 21056811 21099719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21056811 21099719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21056856 21093535 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 2106 198604 Copy number Normal Quantitative Real-Time PCR 17666543 FAM138A,FAM138F,FLJ45445,OR4F17,WASH5P chr19 21065298 21065378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 21082156 21082299 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 21087772 21087881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 21087774 21087881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 21087774 21087882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21116679 21160645 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF85 chr19 21116728 21160645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF85 chr19 21116728 21160645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF85 chr19 21118193 21160645 Gain and loss Pancreatic cancer SNP array 17952125 ZNF85 chr19 21124291 21125057 Gain and loss Pancreatic cancer SNP array 17952125 ZNF85 chr19 21124291 21125057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF85 chr19 21149049 21149149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 2115148 2181007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP3D1,DOT1L chr19 2115148 2181007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP3D1,DOT1L chr19 2115148 2181014 Gain and loss Pancreatic cancer SNP array 17952125 AP3D1,DOT1L chr1 92115346 93162845 LOH Normal High-resolution SNP genotyping 21211785 BRDT,BTBD8,C1orf146,EPHX4,EVI5,GFI1,GLMN,KIAA1107,RPAP2,TGFBR3 chr19 212000 20012000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF253,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF506,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNF93,ZNRF4,ZSWIM4 chr19 212033 63731511 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 212033 7442221 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAPS,CATSPERD,CCDC94,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,EMR4P,FAM108A1,FEM1A,FGF22,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,INSR,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100131094,LOC100288123,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,PALM,PCSK4,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF557,ZNF57,ZNF77,ZNRF4 chr19 212033 7947700 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ABCA7,ACER1,ACSBG2,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANKRD24,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf45,C19orf59,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAMSAP3,CAPS,CATSPERD,CCDC94,CD209,CD70,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,EMR1,EMR4P,EVI5L,FAM108A1,FCER2,FEM1A,FGF22,FLJ22184,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HSD11B1L,INSR,IZUMO4,JSRP1,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC388499,LONP1,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFA11,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,PALM,PCP2,PCSK4,PET100,PEX11G,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAP2C,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RANBP3,RAX2,REEP6,RETN,REXO1,RFX2,RNF126,RPL36,RPS15,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,STXBP2,TBXA2R,TCF3,THEG,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRAPPC5,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WDR18,XAB2,ZBTB7A,ZFR2,ZNF358,ZNF554,ZNF555,ZNF556,ZNF557,ZNF57,ZNF77,ZNRF4 chr1 92122916 92123185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 21234001 21236000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF430 chr19 21265803 21304052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF714 chr19 21265803 21304052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF714 chr19 21267931 21302784 Gain and loss Pancreatic cancer SNP array 17952125 ZNF714 chr19 21268274 21268345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF714 chr1 92126949 92192004 Gain and loss Pancreatic cancer SNP array 17952125 TGFBR3 chr19 21285993 21286078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF714 chr19 21333572 21353944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF431 chr19 21333572 21353944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF431 chr19 21333574 21363223 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF431 chr19 21336408 21352125 Gain and loss Pancreatic cancer SNP array 17952125 ZNF431 chr19 21371760 21402134 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 21371771 21402124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21371771 21402124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21371880 21401506 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 21427728 21429937 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 21428053 21428509 Loss Normal 244K array 17666407 NOT_FOUND chr19 21433372 21533556 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ZNF708 chr19 21451444 21451539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 92147585 92147661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFBR3 chr19 21480277 21512919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF708 chr19 21480277 21512919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF708 chr19 21504299 21512534 Gain and loss Pancreatic cancer SNP array 17952125 ZNF708 chr19 21508936 21509180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF708 chr1 92152160 93245213 LOH Normal High-resolution SNP genotyping 21211785 BRDT,BTBD8,C1orf146,EPHX4,EVI5,GFI1,GLMN,KIAA1107,RPAP2,TGFBR3 chr19 21540540 21558083 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF738 chr19 21542566 21543534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF738 chr19 21548903 21549212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF738 chr19 21550419 21550742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF738 chr19 2157861 2191688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DOT1L chr19 21590361 22799189 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC400680,LOC440518,LOC641367,ZNF100,ZNF208,ZNF257,ZNF429,ZNF43,ZNF493,ZNF676,ZNF729,ZNF98 chr1 92159615 93236756 LOH Normal High-resolution SNP genotyping 21211785 BRDT,BTBD8,C1orf146,EPHX4,EVI5,GFI1,GLMN,KIAA1107,RPAP2,TGFBR3 chr1 92159615 93948358 LOH Normal High-resolution SNP genotyping 21211785 BRDT,BTBD8,C1orf146,CCDC18,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GFI1,GLMN,KIAA1107,LOC100131564,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr19 21630059 21630681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21666643 21666723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC400680 chr19 21693001 21699300 Deletion Glioma mate-paired sequence 20126413 ZNF429 chr19 21694891 21697407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF429 chr19 21694898 21697414 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 ZNF429 chr19 21697408 21742170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF429 chr19 21697408 21742170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF429 chr19 21698682 21742270 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF429 chr19 21700651 21740429 Gain and loss Pancreatic cancer SNP array 17952125 ZNF429 chr19 217034 1822341 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ABCA7,ADAMTSL5,APC2,ARID3A,ATP5D,ATP8B3,AZU1,BSG,C19orf21,C19orf24,C19orf25,C19orf26,C19orf6,C2CD4C,CDC34,CFD,CIRBP,CIRBP-AS1,CNN2,DAZAP1,EFNA2,ELANE,FGF22,FSTL3,GAMT,GPX4,GRIN3B,GZMM,HCN2,HMHA1,KISS1R,LOC100288123,LPPR3,MADCAM1,MBD3,MED16,MEX3D,MIDN,MIER2,MIR1909,MIR3187,MIR4745,MUM1,NDUFS7,ODF3L2,ONECUT3,PALM,PCSK4,PLK5,POLR2E,POLRMT,PPAP2C,PRSS57,PRTN3,PTBP1,R3HDM4,REEP6,REXO1,RNF126,RPS15,SBNO2,SHC2,STK11,TCF3,THEG,TPGS1,UQCR11,WDR18 chr19 21725386 21728080 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 21745030 22481735 LOH Normal High-resolution SNP genotyping 21211785 LOC641367,ZNF100,ZNF208,ZNF257,ZNF43,ZNF676,ZNF729 chr1 9217450 9253983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9217450 9253983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21777328 22951313 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC440518,LOC641367,ZNF100,ZNF208,ZNF257,ZNF43,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 chr19 21779591 21810810 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 21779594 21826670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21779594 21826670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 21781970 21793864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 21788507 34401877 Deletion Cancer Affymetrix 250K Sty array 20164920 ANKRD27,C19orf12,C19orf40,CCNE1,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,DKFZp566F0947,DPY19L3,GPATCH1,HAVCR1P1,KCTD15,LINC00662,LOC100505835,LOC148145,LOC284395,LOC400684,LOC440518,LOC641367,LRP3,NUDT19,PDCD5,PEPD,PLEKHF1,POP4,RGS9BP,RHPN2,RPSAP58,SLC7A10,SLC7A9,TDRD12,THEG5,TSHZ3,UQCRFS1,URI1,VSTM2B,WDR88,ZNF100,ZNF208,ZNF254,ZNF257,ZNF43,ZNF492,ZNF507,ZNF536,ZNF675,ZNF676,ZNF681,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF91,ZNF98,ZNF99 chr1 92183483 92183752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr19 2184155 2187319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 2184155 2187319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 2184155 2187328 Gain and loss Pancreatic cancer SNP array 17952125 DOT1L chr19 21847999 22534698 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC641367,ZNF100,ZNF208,ZNF257,ZNF43,ZNF676,ZNF729 chr19 2185061 2185148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr1 92187516 92252571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr1 92187516 92252571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr19 2187816 2199677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 2187816 2199677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 2187823 2199653 Gain and loss Pancreatic cancer SNP array 17952125 DOT1L chr19 21894160 22557425 LOH Normal High-resolution SNP genotyping 21211785 LOC641367,ZNF100,ZNF208,ZNF257,ZNF43,ZNF676,ZNF729 chr19 2190000 14110000 Gain Acute lymphoblastic leukemia - 21339820 ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,APBA3,ARHGEF18,ARRDC5,ASNA1,ATCAY,ATG4D,BEST2,C19orf10,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CC2D1A,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC37,CDKN2D,CELF5,CERS4,CHAF1A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,COL5A3,CRB3,CREB3L3,CTXN1,DAND5,DAPK3,DCAF15,DENND1C,DHPS,DIRAS1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FLJ22184,FLJ25758,FSD1,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GCDH,GIPC3,GNA11,GNA15,GNG7,GPR108,GTF2F1,HDGFRP2,HMG20B,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KLF1,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC284385,LOC284454,LOC388499,LONP1,LPPR2,LRG1,LRRC8E,LSM7,LYL1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MFSD12,MIR1181,MIR1227,MIR1238,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3940,MIR4321,MIR4322,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MLLT1,MPND,MRI1,MRPL4,MRPL54,MUC16,MYO1F,NACC1,NANOS3,NCLN,NDUFA11,NDUFA7,NFIC,NFIX,NMRK2,NRTN,OAZ1,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PNPLA6,PODNL1,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,PRR22,PSPN,PTPRS,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,RETN,RFX1,RFX2,RGL3,RNASEH2A,RPL36,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TGFBR3L,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,VAV1,VMAC,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 21907599 21985585 Amplification Intellectual disability 100k SNP Array 21811512 LOC641367,ZNF100 chr1 92190802 92190902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFBR3 chr19 2192000 14114000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,APBA3,ARHGEF18,ARRDC5,ASNA1,ATCAY,ATG4D,BEST2,C19orf10,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CC2D1A,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC37,CDKN2D,CELF5,CERS4,CHAF1A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,COL5A3,CRB3,CREB3L3,CTXN1,DAND5,DAPK3,DCAF15,DENND1C,DHPS,DIRAS1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FLJ22184,FLJ25758,FSD1,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GCDH,GIPC3,GNA11,GNA15,GNG7,GPR108,GTF2F1,HDGFRP2,HMG20B,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KLF1,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC284385,LOC284454,LOC388499,LONP1,LPPR2,LRG1,LRRC8E,LSM7,LYL1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MFSD12,MIR1181,MIR1227,MIR1238,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3940,MIR4321,MIR4322,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MLLT1,MPND,MRI1,MRPL4,MRPL54,MUC16,MYO1F,NACC1,NANOS3,NCLN,NDUFA11,NDUFA7,NFIC,NFIX,NMRK2,NRTN,OAZ1,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PNPLA6,PODNL1,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,PRR22,PSPN,PTPRS,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,RETN,RFX1,RFX2,RGL3,RNASEH2A,RPL36,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TGFBR3L,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,VAV1,VMAC,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 21940737 21985561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF100 chr19 21940737 21985561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF100 chr19 21940738 21985585 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF100 chr19 21946172 22743972 Gain and loss Pancreatic cancer SNP array 17952125 ZNF100,ZNF208,ZNF257,ZNF43,ZNF676,ZNF729,ZNF98 chr19 2198173 2198173 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DOT1L chr19 2199724 2199808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOT1L chr19 2200113 2203072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 2200122 2203071 Gain and loss Pancreatic cancer SNP array 17952125 DOT1L chr19 22003623 22018785 Gain Normal aCGH 21627829 ZNF43 chr19 22027105 22065743 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF43 chr19 22027106 22064084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF43 chr19 22027106 22064084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF43 chr19 2203252 2206346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 2203252 2206346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 2203252 2207416 Gain and loss Pancreatic cancer SNP array 17952125 DOT1L chr19 22047445 22833054 Gain and loss Pancreatic cancer SNP array 17952125 LOC440518,ZNF208,ZNF257,ZNF492,ZNF676,ZNF729,ZNF98 chr1 92207579 92241114 Gain and loss Pancreatic cancer SNP array 17952125 TGFBR3 chr19 22096878 22096942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 22112690 22113623 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 22113198 22113623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 22128104 23015536 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC440518,ZNF208,ZNF257,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 chr19 22128104 23015536 Gain Non-syndromic sensorineural hearing loss 370K1,370K2,610K,Agilent24M 19587683 LOC440518,ZNF208,ZNF257,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 chr19 22128734 22142540 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 22138243 22991540 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 LOC440518,ZNF208,ZNF257,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 chr19 22138243 22991540 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 LOC440518,ZNF208,ZNF257,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 chr19 22141755 22175664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF208 chr19 22142540 22218360 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF208 chr19 22153742 22171593 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF208 chr19 22153743 22171593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF208 chr19 22153743 22171593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF208 chr19 22198380 22218360 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 22202771 22206853 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 22203550 22207340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 22204794 22208037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 2220520 2224487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 2220520 2224487 Gain and loss Pancreatic cancer SNP array 17952125 DOT1L chr19 2220520 2224487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOT1L chr19 22206556 22248719 Gain Normal aCGH 21627829 ZNF257 chr1 92220845 92220945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFBR3 chr19 22215831 22218386 Loss Normal aCGH 21627829 NOT_FOUND chr19 22218360 22319891 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF257 chr1 92222832 92253354 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TGFBR3 chr19 22237616 22237716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF257 chr19 2225631 2233175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOT1L,PLEKHJ1 chr19 2225631 2233175 Gain and loss Pancreatic cancer SNP array 17952125 DOT1L,PLEKHJ1 chr19 2225631 2233175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOT1L,PLEKHJ1 chr19 22261092 22661215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF257,ZNF676,ZNF729,ZNF98 chr19 22261092 22661215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF257,ZNF676,ZNF729,ZNF98 chr19 22278397 22661215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF676,ZNF729,ZNF98 chr19 22287398 22287498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 2229344 2229397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOT1L chr19 22300960 22301142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 22319891 22325357 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 22320608 22321320 Gain Normal aCGH 21627829 NOT_FOUND chr19 22325357 22358984 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 22358984 22360363 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 22360363 22405069 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF676 chr19 22365738 22396988 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF676 chr19 22365739 22396988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF676 chr19 22365739 22396988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF676 chr19 22402284 22484690 Gain and loss Pancreatic cancer SNP array 17952125 ZNF729 chr19 22405069 22575319 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF729,ZNF98 chr19 2240774 2259156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMH,JSRP1,MIR4321,SF3A2 chr19 2241057 2242706 Gain and loss Pancreatic cancer SNP array 17952125 SF3A2 chr19 22414200 22414331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 22441905 23048197 LOH Normal High-resolution SNP genotyping 21211785 LOC440518,ZNF492,ZNF729,ZNF98,ZNF99 chr19 22483501 22496500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF729 chr19 22502043 23158078 LOH Normal High-resolution SNP genotyping 21211785 LOC440518,ZNF492,ZNF728,ZNF98,ZNF99 chr19 22515618 22598897 Gain and loss Pancreatic cancer SNP array 17952125 ZNF98 chr19 22520638 24421125 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,LOC440518,RPSAP58,ZNF254,ZNF492,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF728,ZNF91,ZNF98,ZNF99 chr19 22522053 23750113 LOH Normal High-resolution SNP genotyping 21211785 LOC440518,ZNF492,ZNF724P,ZNF728,ZNF91,ZNF98,ZNF99 chr19 22529903 22530009 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 22529903 22530009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 2253113 2253164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JSRP1 chr19 22559988 22560310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 22570923 22578075 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF98 chr19 22570923 22578075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF98 chr19 22570923 22578075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF98 chr19 22574068 22577757 Gain and loss Pancreatic cancer SNP array 17952125 ZNF98 chr19 22574501 22603500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF98 chr19 22575319 22638628 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF98 chr19 22576147 22576326 Gain and loss Pancreatic cancer SNP array 17952125 ZNF98 chr19 22576147 22576326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF98 chr19 22577348 22577430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF98 chr1 92257914 92325416 Gain and loss Pancreatic cancer SNP array 17952125 TGFBR3 chr19 22608965 22642312 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 22609081 22642312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 226336 4793685 Deletion Breast cancer FISH 17142309 ABCA7,ADAMTSL5,ADAT3,AES,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf71,C19orf77,C2CD4C,CACTIN,CACTIN-AS1,CCDC94,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CNN2,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DIRAS1,DOHH,DOT1L,DPP9,EBI3,EEF2,EFNA2,ELANE,FAM108A1,FEM1A,FGF22,FSD1,FSTL3,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPX4,GRIN3B,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,IZUMO4,JSRP1,KISS1R,KLF16,LINGO3,LMNB2,LOC100131094,LOC100288123,LPPR3,LRG1,LSM7,MADCAM1,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR4321,MIR4745,MIR4746,MIR637,MIR7-3,MIR7-3HG,MKNK2,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFS7,NFIC,NMRK2,OAZ1,ODF3L2,ONECUT3,PALM,PCSK4,PIAS4,PIP5K1C,PLEKHJ1,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PPAP2C,PRSS57,PRTN3,PTBP1,R3HDM4,RAX2,REEP6,REXO1,RNF126,RPS15,S1PR4,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH3GL1,SHC2,SHD,SIRT6,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THEG,THOP1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TPGS1,UBXN6,UQCR11,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77 chr19 22638628 22898214 Gain Normal Birdsuite, version 1.5.2 22087296 LOC440518,ZNF492 chr19 22659513 22659613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 22673958 22674336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 22673994 22674336 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 92268146 92301672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr1 92268146 92301672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr19 226925 19692685 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 2272522 2279710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf35,OAZ1 chr19 2272522 2279710 Gain and loss Pancreatic cancer SNP array 17952125 C19orf35,OAZ1 chr19 2272522 2279710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf35,OAZ1 chr19 22728579 22729295 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 22732295 22743969 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 22732295 22744614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 22738555 22745264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 9227501 9384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 H6PD,SPSB1 chr19 2277001 3921500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AES,APBA3,ATCAY,C19orf35,C19orf71,C19orf77,CACTIN,CACTIN-AS1,CELF5,DIRAS1,DOHH,FZR1,GADD45B,GIPC3,GNA11,GNA15,GNG7,HMG20B,LINGO3,LMNB2,LSM7,MATK,MFSD12,MRPL54,NCLN,NFIC,PIP5K1C,RAX2,S1PR4,SGTA,SLC39A3,SPPL2B,TBXA2R,THOP1,TIMM13,TJP3,TLE2,TLE6,TMPRSS9,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77 chr19 22774966 23732307 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC440518,ZNF492,ZNF724P,ZNF728,ZNF91,ZNF99 chr19 22779523 23514066 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC440518,ZNF492,ZNF724P,ZNF728,ZNF99 chr19 227938 14754514 Copy number Lung cancer paired-end sequencing 18438408 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BEST2,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CAMSAP3,CAPS,CARM1,CATSPERD,CC2D1A,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAND5,DAPK3,DAZAP1,DCAF15,DDX39A,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR3,EMR4P,EPOR,EVI5L,FAM108A1,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GIPC1,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOOK2,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IL27RA,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF1,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LONP1,LPHN1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,LYL1,MADCAM1,MAN2B1,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRI1,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NACC1,NANOS3,NCLN,NDUFA11,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RGL3,RLN3,RNASEH2A,RNF126,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STK11,STX10,STXBP2,SWSAP1,SYCE2,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WDR18,WDR83,WDR83OS,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 2279629 2306099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf35,LINGO3 chr19 2279629 2306099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf35,LINGO3 chr19 2279680 2305799 Gain and loss Pancreatic cancer SNP array 17952125 C19orf35,LINGO3 chr1 9228142 9228142 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr19 22826644 24421125 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,RPSAP58,ZNF254,ZNF492,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF728,ZNF91,ZNF99 chr19 22832194 22833107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF492 chr19 22838738 22839259 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF492 chr19 22851981 22888322 Gain or loss Normal aCGH 21627829 NOT_FOUND chr19 22861077 24138118 LOH Normal High-resolution SNP genotyping 21211785 RPSAP58,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF728,ZNF91,ZNF99 chr19 22866332 24138118 LOH Normal High-resolution SNP genotyping 21211785 RPSAP58,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF728,ZNF91,ZNF99 chr19 22866332 24421125 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,RPSAP58,ZNF254,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF728,ZNF91,ZNF99 chr19 22870903 24345811 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,RPSAP58,ZNF254,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF728,ZNF91,ZNF99 chr19 22880337 24421125 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,RPSAP58,ZNF254,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF728,ZNF91,ZNF99 chr19 22886865 22918039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 22897277 22943005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF99 chr19 22898214 22999226 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF99 chr19 22899898 22903253 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 229000 1531000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 ABCA7,ADAMTSL5,APC2,ARID3A,ATP5D,AZU1,BSG,C19orf21,C19orf24,C19orf25,C19orf26,C19orf6,C2CD4C,CDC34,CFD,CIRBP,CIRBP-AS1,CNN2,DAZAP1,EFNA2,ELANE,FGF22,FSTL3,GAMT,GPX4,GRIN3B,GZMM,HCN2,HMHA1,KISS1R,LPPR3,MADCAM1,MED16,MIDN,MIER2,MIR3187,MIR4745,MUM1,NDUFS7,ODF3L2,PALM,PCSK4,PLK5,POLR2E,POLRMT,PPAP2C,PRSS57,PRTN3,PTBP1,R3HDM4,REEP6,RNF126,RPS15,SBNO2,SHC2,STK11,THEG,TPGS1,WDR18 chr1 9229129 9259194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 92292386 92293374 Gain and loss Pancreatic cancer SNP array 17952125 TGFBR3 chr19 22926249 23090115 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ZNF99 chr19 22930801 22936500 Deletion Glioma mate-paired sequence 20126413 ZNF99 chr19 22932698 22934767 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 22950121 23730187 Gain and loss Pancreatic cancer SNP array 17952125 ZNF724P,ZNF728,ZNF91,ZNF99 chr19 22973 23110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 22989943 23077764 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 22996557 23028969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 92300762 93162845 LOH Normal High-resolution SNP genotyping 21211785 BRDT,BTBD8,C1orf146,EPHX4,EVI5,GFI1,GLMN,KIAA1107,RPAP2,TGFBR3 chr19 23008301 23016800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 23008548 23014947 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 23009885 23015296 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 23021445 23024061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 92304589 92305981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr19 230501 249500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 23091617 23124603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23091617 23124603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23108719 23909041 Gain and loss Pancreatic cancer SNP array 17952125 ZNF675,ZNF724P,ZNF728,ZNF91 chr19 23112629 23112945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 92312665 92313556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr1 92312665 92313556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr19 23160874 23160979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF728 chr19 23179628 23208407 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF728 chr1 92317992 94078445 LOH Normal High-resolution SNP genotyping 21211785 BCAR3,BRDT,BTBD8,C1orf146,CCDC18,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GFI1,GLMN,KIAA1107,LOC100129046,LOC100131564,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr1 92317992 94315257 LOH Normal High-resolution SNP genotyping 21211785 BCAR3,BRDT,BTBD8,C1orf146,CCDC18,DR1,EPHX4,EVI5,FAM69A,FNBP1L,GFI1,GLMN,KIAA1107,LOC100129046,LOC100131564,MIR760,MTF2,RPAP2,RPL5,SNORA66,SNORD21,TGFBR3,TMED5 chr1 92318450 92385983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr1 92318450 92385983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr19 23197360 23206938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 232000 9832000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ABCA7,ACER1,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANKRD24,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf45,C19orf59,C19orf6,C19orf70,C19orf71,C19orf77,C2CD4C,C3,CACTIN,CACTIN-AS1,CAMSAP3,CAPS,CATSPERD,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN2,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAPK3,DAZAP1,DENND1C,DIRAS1,DOHH,DOT1L,DPP9,DUS3L,EBI3,EEF2,EFNA2,ELANE,ELAVL1,EMR1,EMR4P,EVI5L,FAM108A1,FBN3,FCER2,FEM1A,FGF22,FLJ22184,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HSD11B1L,INSR,IZUMO4,JSRP1,KANK3,KDM4B,KHSRP,KISS1R,KLF16,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR3,LRG1,LRRC8E,LSM7,MADCAM1,MAP2K2,MAP2K7,MARCH2,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1227,MIR1909,MIR3187,MIR3940,MIR4321,MIR4745,MIR4746,MIR4747,MIR4999,MIR637,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL54,MUC16,MUM1,MYO1F,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,ONECUT3,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,PALM,PCP2,PCSK4,PET100,PEX11G,PIAS4,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAP2C,PRAM1,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,R3HDM4,RAB11B,RAB11B-AS1,RANBP3,RAX2,REEP6,RETN,REXO1,RFX2,RNF126,RPL36,RPS15,RPS28,S1PR4,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SNAPC2,SNORD37,SPPL2B,STAP2,STK11,STXBP2,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRAPPC5,TRIP10,TUBB4A,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WDR18,XAB2,ZBTB7A,ZFR2,ZNF121,ZNF177,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF57,ZNF699,ZNF77,ZNF812,ZNRF4 chr19 23202650 23258828 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 232048 242435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 232048 242435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 232080 17986080 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CHERP,CIB3,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CPAMD8,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25328,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GCDH,GIPC1,GIPC3,GLT25D1,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IZUMO4,JAK3,JSRP1,JUNB,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF1,KLF16,KLF2,KRI1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LONP1,LPHN1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCLN,NDUFA11,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PCP2,PCSK4,PDE4A,PET100,PEX11G,PGLS,PGLYRP2,PIAS4,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,STAP2,STK11,STX10,STXBP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMEM221,TMEM38A,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UQCR11,USE1,USHBP1,VAV1,VMAC,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 232109 258746 Gain Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr19 23229246 24421125 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,RPSAP58,ZNF254,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF91 chr19 23234603 23237276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23237677 24421125 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,RPSAP58,ZNF254,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF91 chr19 23239439 23239509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 23256971 23258653 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 23272990 23290286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 23308587 23308670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 23332337 23370109 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 23332341 23370109 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 23332341 23370109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23332341 23370109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23333883 23349407 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 23400308 23437961 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF724P chr19 2340784 2377086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPPL2B chr19 2340784 2377086 Gain and loss Pancreatic cancer SNP array 17952125 SPPL2B chr19 2340784 2377086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPPL2B chr19 23422553 24421125 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,RPSAP58,ZNF254,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF91 chr19 23428671 33421359 Substitutions and indels small cell lung cancer array-CGH 20016488 ANKRD27,C19orf12,CCNE1,CEP89,DKFZp566F0947,DPY19L3,HAVCR1P1,LINC00662,LOC100505835,LOC148145,LOC284395,LOC400684,NUDT19,PDCD5,PLEKHF1,POP4,RGS9BP,RPSAP58,SLC7A9,TDRD12,THEG5,TSHZ3,UQCRFS1,URI1,VSTM2B,ZNF254,ZNF507,ZNF536,ZNF675,ZNF681,ZNF724P,ZNF726,ZNF91 chr19 23447015 23447071 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 92346540 92362303 Gain and loss Pancreatic cancer SNP array 17952125 TGFBR3 chr19 23466483 23480650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23479913 23480626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 23506131 24421125 LOH Normal High-resolution SNP genotyping 21211785 HAVCR1P1,RPSAP58,ZNF254,ZNF675,ZNF681,ZNF726,ZNF91 chr19 23506281 23574658 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF91 chr1 92351787 92357601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TGFBR3 chr1 92351832 92368269 Loss Normal Birdsuite, version 1.5.2 22087296 TGFBR3 chr1 92352953 92353949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr19 23532477 23532795 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 2356116 2510841 Gain Normal Birdsuite, version 1.5.2 22087296 GADD45B,LMNB2,TIMM13,TMPRSS9 chr19 23604052 23637612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 23627547 23661857 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 23627548 23661857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23627548 23661857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23627868 23637801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 92363446 92364607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR3 chr19 23663411 23760164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 23713836 23733533 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 23713837 23733533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23713837 23733533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23718254 23729483 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 2376622 2378875 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 2376630 2378875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 2376630 2378875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23775024 24072601 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RPSAP58,ZNF675,ZNF681 chr19 23778234 23778554 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 23780000 51950000 Gain Ductal carcinoma SNP array 22052326 ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BLOC1S3,BLVRB,BSPH1,C19orf12,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNTD2,COX6B1,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DPF1,DPY19L3,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,ERCC1,ERCC2,ERF,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM83E,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FKRP,FLJ26850,FLT3LG,FOSB,FOXA3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAUS5,HAVCR1P1,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LIM2,LIN37,LIN7B,LINC00662,LINC00665,LIPE,LMTK3,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100134317,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC148145,LOC284344,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MED25,MED29,MEGF8,MEIS3,MGC45922,MIA,MIA-RAB4B,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR5088,MIR5196,MIR641,MIR642A,MIR642B,MIR769,MLL4,MRPS12,MYBPC2,MYH14,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NCCRP1,NFKBIB,NFKBID,NKG7,NKPD1,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRMT1,PRODH2,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RELB,RGS9BP,RHPN2,RINL,RNU6-66,RPL13A,RPL13AP5,RPL18,RPS11,RPS16,RPS19,RPSAP58,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SHANK1,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC16,SIGLEC17P,SIGLEC7,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,STRN4,SULT2A1,SULT2B1,SUPT5H,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TGFB1,THAP8,THEG5,TIMM50,TMEM143,TMEM145,TMEM147,TMEM160,TMEM91,TOMM40,TPRX1,TRAPPC6A,TRPM4,TSHZ3,TSKS,TTC9B,TULP2,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,VASP,VRK3,VSIG10L,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZC3H4,ZFP112,ZFP14,ZFP30,ZFP36,ZFP82,ZNF114,ZNF146,ZNF155,ZNF180,ZNF181,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF254,ZNF260,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF404,ZNF420,ZNF428,ZNF45,ZNF461,ZNF473,ZNF507,ZNF526,ZNF527,ZNF529,ZNF536,ZNF540,ZNF541,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF675,ZNF681,ZNF726,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 2379165 2407958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS9 chr19 2379165 2407958 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS9 chr19 2379165 2407958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS9 chr19 23799303 23822924 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 23801726 23802761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23832120 23832189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 2383885 2384730 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 23889552 23910101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23889552 23910101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 23889553 23894732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 23952600 23953393 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 RPSAP58 chr19 23974231 23978050 Gain and loss Pancreatic cancer SNP array 17952125 RPSAP58 chr19 23975915 23976005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPSAP58 chr19 23977483 23977548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPSAP58 chr19 23978996 23979148 Gain and loss Pancreatic cancer SNP array 17952125 RPSAP58 chr19 23979000 23979149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPSAP58 chr19 23979002 23979149 Gain and loss Pancreatic cancer SNP array 17952125 RPSAP58 chr19 24000000 28000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 HAVCR1P1,RPSAP58,ZNF254,ZNF726 chr19 24003651 24003732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPSAP58 chr19 24011302 24011487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 24027954 24028078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 24048472 24102622 Gain and loss Pancreatic cancer SNP array 17952125 ZNF726 chr1 92405130 92422870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRDT chr1 92405130 92422870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRDT chr19 24061816 24104483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF726 chr19 24061816 24104483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF726 chr19 2408501 2775500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIRAS1,GADD45B,GNG7,LMNB2,SGTA,SLC39A3,TIMM13,TMPRSS9 chr19 241269 19877489 Loss Prostate cancer Array CGH 18632612 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP13A1,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GMIP,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 241269 63560213 Loss Prostate cancer Array CGH 18632612 A1BG,A1BG-AS1,ABCA7,ABHD8,ACER1,ACP5,ACPT,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ASPDH,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AURKC,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BIRC8,BLOC1S3,BLVRB,BRD4,BRSK1,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf18,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf48,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C19orf81,C2CD4C,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACNG6,CACNG7,CACNG8,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC106,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD33,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDC42EP5,CDKN2D,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHMP2A,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNOT3,CNTD2,COL5A3,COMP,COPE,COX6B1,COX6B2,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTU1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPRX,DPY19L3,DUS3L,DUXA,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EMC10,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPN1,EPOR,EPS15L1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM187B,FAM32A,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCAR,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FIZ1,FKBP1AP1,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GALP,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GP6,GPATCH1,GPI,GPR108,GPR32,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAS1,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,HSPBP1,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ISYNA1,ITPKC,IZUMO1,IZUMO2,IZUMO4,JAK3,JOSD2,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRI1,KRTDAP,KXD1,LAIR1,LAIR2,LDLR,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128252,LOC100128398,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131094,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC4B,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MADCAM1,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MBOAT7,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MGC2752,MGC45922,MIA,MIA-RAB4B,MIDN,MIER2,MIMT1,MIR1181,MIR1227,MIR1238,MIR125A,MIR1270-1,MIR1270-2,MIR1283-1,MIR1283-2,MIR1323,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR4999,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR643,MIR7-3,MIR7-3HG,MIR769,MIR935,MIR99B,MIRLET7E,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYADM,MYBPC2,MYH14,MYO1F,MYO9B,MYPOP,MZF1,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCAN,NCCRP1,NCLN,NCR1,NDUFA11,NDUFA13,NDUFA3,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR1H2,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OSCAR,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEG3,PEG3-AS1,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLD1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPAP2C,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRAM1,PRDX2,PRG1,PRKACA,PRKCG,PRKCSH,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH13,RDH8,REEP6,RELB,RETN,REXO1,RFPL4A,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL28,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPS5,RPS9,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBK2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGK110,SGTA,SH2D3A,SH3GL1,SHANK1,SHC2,SHD,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC27A5,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPIB,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,SSC5D,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TFPT,TGFB1,TGFBR3L,THAP8,THEG,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMC4,TMED1,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM161A,TMEM190,TMEM205,TMEM221,TMEM238,TMEM38A,TMEM59L,TMEM86B,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNNI3,TNNT1,TNPO2,TOMM40,TPGS1,TPM3P9,TPM4,TPRX1,TRAPPC2P1,TRAPPC5,TRAPPC6A,TRIM28,TRIP10,TRMT1,TRPM4,TSEN34,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TTYH1,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,U2AF2,UBA2,UBA52,UBE2M,UBE2S,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,USP29,VASP,VAV1,VMAC,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB45,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZIK1,ZIM2,ZIM3,ZNF100,ZNF101,ZNF114,ZNF121,ZNF132,ZNF134,ZNF135,ZNF136,ZNF137P,ZNF14,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF256,ZNF257,ZNF260,ZNF264,ZNF266,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF317,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF333,ZNF345,ZNF347,ZNF350,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF432,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF497,ZNF506,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF628,ZNF649,ZNF653,ZNF665,ZNF667,ZNF671,ZNF675,ZNF676,ZNF677,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF701,ZNF702P,ZNF708,ZNF709,ZNF71,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF749,ZNF761,ZNF763,ZNF765,ZNF766,ZNF77,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF8,ZNF805,ZNF808,ZNF812,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF823,ZNF826P,ZNF829,ZNF83,ZNF833P,ZNF835,ZNF836,ZNF837,ZNF841,ZNF844,ZNF845,ZNF846,ZNF85,ZNF850,ZNF865,ZNF878,ZNF880,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B,ZSWIM4 chr19 24142405 24349203 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HAVCR1P1,ZNF254 chr19 24161928 40254153 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ACTN4,ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf33,C19orf40,C19orf55,CAPN12,CAPNS1,CATSPERG,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLC,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DLL3,DMKN,DPF1,DPY19L3,ECH1,EID2,EID2B,EIF3K,ETV2,FAM187B,FAM98C,FBXO17,FBXO27,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GGN,GMFG,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HAVCR1P1,HCST,HKR1,HNRNPL,HPN,HSPB6,IGFLR1,IL28A,IL28B,IL29,KCNK6,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00662,LINC00665,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100505835,LOC100506469,LOC100507433,LOC100631378,LOC100652909,LOC148145,LOC284395,LOC284412,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LSM14A,LSR,MAG,MAP4K1,MED29,MIR4530,MIR5196,MLL4,MRPS12,NCCRP1,NFKBIB,NFKBID,NPHS1,NUDT19,OVOL3,PAF1,PAK4,PAPL,PDCD2L,PDCD5,PEPD,PLEKHF1,PLEKHG2,POLR2I,POP4,PPP1R14A,PRODH2,PSENEN,PSMD8,RASGRP4,RBM42,RGS9BP,RHPN2,RINL,RPS16,RYR1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SIPA1L3,SIRT2,SLC7A10,SLC7A9,SPINT2,SPRED3,SUPT5H,SYCN,SYNE4,TBCB,TDRD12,THAP8,THEG5,TIMM50,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,VSTM2B,WDR62,WDR87,WDR88,WTIP,YIF1B,ZBTB32,ZFP14,ZFP30,ZFP36,ZFP82,ZNF146,ZNF181,ZNF254,ZNF260,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF507,ZNF527,ZNF529,ZNF536,ZNF540,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 24184097 24184197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 24194390 24421125 Copy number loss Normal High-resolution SNP genotyping 21211785 HAVCR1P1,ZNF254 chr1 924208 925333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 924208 925333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 24210000 32730000 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 C19orf12,CCNE1,DKFZp566F0947,HAVCR1P1,LINC00662,LOC100505835,LOC148145,LOC284395,PLEKHF1,POP4,THEG5,TSHZ3,UQCRFS1,URI1,VSTM2B,ZNF254,ZNF536 chr1 92424066 92476565 Gain and loss Pancreatic cancer SNP array 17952125 BRDT chr19 24250953 24255966 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 24252658 24256797 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 24252658 24256797 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 24253248 24388578 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HAVCR1P1,ZNF254 chr19 24255875 24264393 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr19 24268174 24268345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 2427134 2429257 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 LMNB2,TIMM13 chr19 2427135 2429257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMNB2,TIMM13 chr19 2427135 2429257 Gain and loss Pancreatic cancer SNP array 17952125 LMNB2,TIMM13 chr19 2427135 2429257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMNB2,TIMM13 chr19 24305001 24412250 Copy number Normal ReadDepth: A Parallel R Package 21305028 HAVCR1P1,ZNF254 chr19 24307291 32574694 Copy number Lung cancer paired-end sequencing 18438408 C19orf12,CCNE1,DKFZp566F0947,HAVCR1P1,LINC00662,LOC100505835,LOC148145,LOC284395,PLEKHF1,POP4,THEG5,TSHZ3,UQCRFS1,URI1,VSTM2B,ZNF254,ZNF536 chr19 2432691 2890730 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DIRAS1,GADD45B,GNG7,LMNB2,SGTA,SLC39A3,THOP1,ZNF554,ZNF555,ZNF556 chr19 24333612 24333767 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 24344678 24378878 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 HAVCR1P1 chr19 24345811 24392616 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HAVCR1P1 chr19 24349254 24421125 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 92441293 92442136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRDT chr1 92453942 92453993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BRDT chr19 2454045 2454138 Gain and loss Pancreatic cancer SNP array 17952125 LMNB2 chr19 2454045 2454138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMNB2 chr1 92456161 92483955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRDT chr1 92456161 92483955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRDT chr19 2462218 2653663 Gain and loss Pancreatic cancer SNP array 17952125 GADD45B,GNG7 chr19 2462218 2653746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GADD45B,GNG7 chr19 2462218 2653746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GADD45B,GNG7 chr19 2462311 2667762 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 GADD45B,GNG7 chr19 2463038 2463876 Copy number Cancer CGH 20581869 NOT_FOUND chr19 2465451 2506186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GADD45B chr1 92467163 92467580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRDT chr19 2475374 2475941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 92476626 92565750 Gain and loss Pancreatic cancer SNP array 17952125 BRDT,BTBD8,EPHX4 chr1 92484545 92537154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHX4 chr1 92484545 92537154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHX4 chr19 2489108 2489786 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 2489108 2489786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 249501 252000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 252001 349000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIER2,PPAP2C chr1 9252797 9252897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 92537193 92626317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTBD8 chr1 92537193 92626317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTBD8 chr19 256575 295791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPAP2C chr19 256575 295791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPAP2C chr1 92579967 92580263 Gain and loss Pancreatic cancer SNP array 17952125 BTBD8 chr1 9259979 9260039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 92601350 92601486 Gain and loss Pancreatic cancer SNP array 17952125 BTBD8 chr1 9261037 9261179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 2625195 2625282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNG7 chr19 262971 263141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 92640534 92640830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1107 chr1 92640536 92640830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1107 chr19 26500000 59128983 Deletion Astrocytoma FastStart DNA Master SYBR Green I with LightCycler 17934521 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00662,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 26500000 59128983 Gain Leukemia References 17361228 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00662,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 26500000 59128983 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00662,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr1 92652343 92664460 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 92661917 92662053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 2662701 2666800 Deletion Glioma mate-paired sequence 20126413 GNG7 chr19 2665564 2672369 Gain or loss Breast cancer - 20668451 GNG7 chr19 2665564 2672369 Gain or loss Cancer - 20668451 GNG7 chr19 2665564 2672369 Gain or loss Lung cancer - 20668451 GNG7 chr19 2665564 2672369 Gain or loss Ovarian cancer - 20668451 GNG7 chr19 2665564 2672369 Gain or loss Pancreas cancer - 20668451 GNG7 chr19 2665564 2672369 Gain or loss Prostate cancer - 20668451 GNG7 chr19 2665566 2672369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNG7 chr19 2665566 2672369 Gain and loss Pancreatic cancer SNP array 17952125 GNG7 chr19 2665566 2672369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG7 chr19 2666086 2667128 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GNG7 chr19 2683525 2691074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNG7 chr19 2683525 2691074 Gain and loss Pancreatic cancer SNP array 17952125 GNG7 chr19 2683525 2691074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNG7 chr1 92685463 92685548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1orf146 chr1 92691234 92914205 Gain and loss Pancreatic cancer SNP array 17952125 C1orf146,GLMN,RPAP2 chr19 2705711 2734354 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 DIRAS1,SLC39A3 chr19 2705712 2734354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIRAS1,SLC39A3 chr19 2705712 2734354 Gain and loss Pancreatic cancer SNP array 17952125 DIRAS1,SLC39A3 chr19 2705712 2734354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIRAS1,SLC39A3 chr1 92712907 92725021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLMN chr1 92712907 92725021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLMN chr19 27163 28690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 92718501 92725500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GLMN chr19 2724407 2724980 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 2726942 2727007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 2736505 2764599 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SGTA,SLC39A3 chr19 2736506 2764588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGTA,SLC39A3 chr19 2736506 2764588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGTA,SLC39A3 chr19 2736506 2764590 Gain and loss Pancreatic cancer SNP array 17952125 SGTA,SLC39A3 chr1 92740322 92740422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLMN chr1 92746840 93030549 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 EVI5,GFI1,GLMN,RPAP2 chr1 92746841 93030549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EVI5,GFI1,GLMN,RPAP2 chr1 92746841 93030549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5,GFI1,GLMN,RPAP2 chr1 9275512 9276345 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr1 9275571 9352175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 H6PD chr1 9275571 9352175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H6PD chr19 2770871 2787733 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SGTA,THOP1 chr19 2770872 2787733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGTA,THOP1 chr19 2770872 2787733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGTA,THOP1 chr19 2770961 2786469 Gain and loss Pancreatic cancer SNP array 17952125 SGTA,THOP1 chr19 2775501 2926000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SGTA,THOP1,ZNF554,ZNF555,ZNF556,ZNF57 chr19 278073 12616127 Gain Bladder cancer array-CGH 21909424 ABCA7,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKRD24,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARRDC5,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf45,C19orf52,C19orf59,C19orf6,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACTIN,CACTIN-AS1,CAMSAP3,CAPS,CARM1,CATSPERD,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CDC34,CDC37,CDKN2D,CELF5,CERS4,CFD,CHAF1A,CIRBP,CIRBP-AS1,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,CRB3,CREB3L3,CSNK1G2,CSNK1G2-AS1,CTXN1,DAPK3,DAZAP1,DENND1C,DIRAS1,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FAM108A1,FBN3,FBXL12,FCER2,FDX1L,FEM1A,FGF22,FLJ22184,FLJ25758,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HSD11B1L,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,IZUMO4,JSRP1,KANK2,KANK3,KDM4B,KEAP1,KHSRP,KISS1R,KLF16,KRI1,LDLR,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC284385,LOC388499,LONP1,LPPR2,LPPR3,LRG1,LRRC8E,LSM7,MADCAM1,MAP2K2,MAP2K7,MARCH2,MATK,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1909,MIR199A1,MIR3187,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MRPL4,MRPL54,MUC16,MUM1,MYO1F,NCLN,NDUFA11,NDUFA7,NDUFS7,NFIC,NMRK2,NRTN,OAZ1,ODF3L2,OLFM2,ONECUT3,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PCP2,PCSK4,PDE4A,PET100,PEX11G,PIAS4,PIN1,PIP5K1C,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PNPLA6,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3D,RANBP3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX2,RGL3,RNF126,RPL36,RPS15,RPS28,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIRT6,SLC25A23,SLC25A41,SLC39A3,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD37,SPC24,SPPL2B,STAP2,STK11,STXBP2,SWSAP1,TBXA2R,TCF3,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TMED1,TMEM205,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TPGS1,TRAPPC5,TRIP10,TSPAN16,TUBB4A,TYK2,UBL5,UBXN6,UHRF1,UQCR11,VAV1,VMAC,WDR18,XAB2,YIPF2,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4 chr19 2784431 2797782 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 THOP1 chr19 2792473 2808682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THOP1 chr19 2792473 2808682 Gain and loss Pancreatic cancer SNP array 17952125 THOP1 chr19 2792473 2808682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THOP1 chr19 2792481 2805035 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 THOP1 chr19 2801309 2801341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THOP1 chr1 92807569 92807601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPAP2 chr19 28143661 28143761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 2818332 2829501 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ZNF554 chr19 2818333 2829501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF554 chr19 2818333 2829501 Gain and loss Pancreatic cancer SNP array 17952125 ZNF554 chr19 2818333 2829501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF554 chr1 92818626 92818992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPAP2 chr19 28352137 28352237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 28389533 45781867 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ACTN4,ADCK4,AKT2,ALKBH6,ANKRD27,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGEF1,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT8,B9D2,BCAM,BCKDHA,BCL3,BLOC1S3,BLVRB,C19orf12,C19orf33,C19orf40,C19orf47,C19orf54,C19orf55,C19orf69,CADM4,CAPN12,CAPNS1,CATSPERG,CBLC,CCDC97,CCNE1,CD177,CD22,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CIC,CLASRP,CLC,CLIP3,CLPTM1,CNFN,CNTD2,COX6B1,COX7A1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DKFZp566F0947,DLL3,DMKN,DMRTC2,DPF1,DPY19L3,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM98C,FBL,FBXO17,FBXO27,FCGBP,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GEMIN7,GGN,GMFG,GPATCH1,GPI,GRAMD1A,GRIK5,GSK3A,HAMP,HAUS5,HCST,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HSPB6,IGFLR1,IGSF23,IL28A,IL28B,IL29,IRGC,IRGQ,ITPKC,KCNK6,KCNN4,KCTD15,KIAA0355,KIRREL2,KRTDAP,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00665,LIPE,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505835,LOC100506469,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC148145,LOC284344,LOC284395,LOC284412,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAP3K10,MAP4K1,MARK4,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR4531,MIR5196,MIR641,MLL4,MRPS12,NCCRP1,NFKBIB,NFKBID,NKPD1,NPHS1,NUDT19,NUMBL,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEPD,PHLDB3,PINLYP,PLAUR,PLD3,PLEKHF1,PLEKHG2,POLR2I,POP4,POU2F2,PPP1R14A,PPP1R37,PRG1,PRODH2,PRR19,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PVR,PVRL2,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RBM42,RELB,RGS9BP,RHPN2,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SLC7A10,SLC7A9,SMG9,SNRPA,SPINT2,SPRED3,SPTBN4,SRRM5,SUPT5H,SYCN,SYNE4,TBCB,TDRD12,TEX101,TGFB1,THAP8,THEG5,TIMM50,TMEM145,TMEM147,TMEM91,TOMM40,TRAPPC6A,TSHZ3,TTC9B,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZFP112,ZFP14,ZFP30,ZFP36,ZFP82,ZNF146,ZNF155,ZNF180,ZNF181,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF260,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF404,ZNF420,ZNF428,ZNF45,ZNF461,ZNF507,ZNF526,ZNF527,ZNF529,ZNF536,ZNF540,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 28440000 30180000 Loss Breast cancer aCGH 21509527 LOC100505835,LOC148145,LOC284395,PLEKHF1,POP4,UQCRFS1,VSTM2B chr19 2847754 2895931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF555,ZNF556 chr19 2847754 2895931 Gain and loss Pancreatic cancer SNP array 17952125 ZNF555,ZNF556 chr19 2847754 2895931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF555,ZNF556 chr19 28500000 30200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C19orf12,LOC100505835,LOC148145,LOC284395,PLEKHF1,POP4,UQCRFS1,VSTM2B chr19 28500000 57600000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC6A,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,VASP,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIM2,ZNF114,ZNF137P,ZNF146,ZNF155,ZNF160,ZNF175,ZNF180,ZNF181,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF260,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF320,ZNF321P,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF420,ZNF428,ZNF432,ZNF444,ZNF45,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF585A,ZNF585B,ZNF599,ZNF600,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Copy number Glioma multiple ligation-dependent probe amplification 21971842 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Deletion Ewing's sarcoma CGH(Reference) 21437220 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Gain Esophageal squamous carcinoma CGH 21637470 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Gain Normal - 21321214 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Gain or loss Endometrial cancer CGH 22040021 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Loss Astrocytoma CGH 17387387 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Loss Breast cancer aCGH 21264507 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Loss Oligodendroglial tumors CGH 17285580 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28500000 63811651 Microdeletion renal disease - 20603712 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 2851896 2869465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF555,ZNF556 chr19 2851896 2869465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF555,ZNF556 chr19 2851955 2869467 Gain and loss Pancreatic cancer SNP array 17952125 ZNF555,ZNF556 chr19 2858601 2863600 Deletion Glioma mate-paired sequence 20126413 ZNF555 chr19 28600000 32400000 Amplification Gastric cancer Array CGH 16575401 C19orf12,CCNE1,DKFZp566F0947,LOC100505835,LOC148145,LOC284395,PLEKHF1,POP4,THEG5,TSHZ3,UQCRFS1,URI1,VSTM2B,ZNF536 chr19 28600000 32400000 Amplification Ovarian cancer Affymetrix 50K XbaI SNP mapping arrays, Affymetrix U133plus2.0 arrays 19193619 C19orf12,CCNE1,DKFZp566F0947,LOC100505835,LOC148145,LOC284395,PLEKHF1,POP4,THEG5,TSHZ3,UQCRFS1,URI1,VSTM2B,ZNF536 chr19 28600000 32400000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 C19orf12,CCNE1,DKFZp566F0947,LOC100505835,LOC148145,LOC284395,PLEKHF1,POP4,THEG5,TSHZ3,UQCRFS1,URI1,VSTM2B,ZNF536 chr19 28600000 59128983 Deletion Adenoid cystic carcinoma Array CGH 18698036 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 28600000 59128983 Gain Salivary gland adenoid cystic carcinoma Genome-wide scanning BAC array 17545515 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC148145,LOC284344,LOC284379,LOC284395,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POP4,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,VSTM2B,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 2860348 2861526 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF555 chr19 28633469 28633543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 28643631 28643731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 28705865 28705965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 9287207 9363857 Gain and loss Pancreatic cancer SNP array 17952125 H6PD,SPSB1 chr1 92878386 92878512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 92878446 92878512 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 28848540 28848598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 92885193 92885775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 2890063 2890237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 2899212 2911788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF57 chr1 9289957 9290052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 29141791 29141891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 29181191 29181357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 29199506 29199599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 2923168 2923268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 2926001 3049500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TLE2,TLE6,ZNF77 chr19 2927853 2946176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF77 chr19 2927853 2946176 Gain and loss Pancreatic cancer SNP array 17952125 ZNF77 chr19 2927853 2946176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF77 chr19 29291147 29291247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 292986 371099 Loss Stenocardia MACArray Karyo 107K BAC-chips 21860640 MIER2,THEG chr19 292986 371099 Loss Vasospasm MACArray Karyo 107K BAC-chips 21860640 MIER2,THEG chr19 29349382 29349461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 92938964 92939079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 92942642 92942788 Gain Autism 1M Ailent CGH whole-genome array 21865298 GFI1 chr19 294708 294740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 2948637 2980022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLE6 chr19 2948637 2980022 Gain and loss Pancreatic cancer SNP array 17952125 TLE6 chr19 2948637 2980022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLE6 chr19 29493606 29493680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100505835 chr19 29501733 29501798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100505835 chr19 2956881 2988947 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TLE6 chr19 29575146 29575213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 29605951 29605985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 29613685 29613781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 29639903 29640000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 92970145 92971402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 29730365 29730465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 29855566 29855785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284395 chr19 29855677 29855783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284395 chr19 29855780 29855951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284395 chr1 92987301 92987475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 29874748 29874848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284395 chr19 29909120 29909167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284395 chr19 29921954 29922018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284395 chr19 29938252 29938337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284395 chr1 92993954 92995097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 30030000 30640000 Gain Breast cancer aCGH 21509527 C19orf12,CCNE1,PLEKHF1,POP4,URI1,VSTM2B chr19 3003908 3013964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLE2 chr19 3003908 3013964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLE2 chr19 3003908 3014010 Gain and loss Pancreatic cancer SNP array 17952125 TLE2 chr1 93009631 93019501 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 30097169 30108162 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 POP4 chr1 93012000 102612000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ABCA4,ABCD3,AGL,ALG14,ARHGAP29,BCAR3,CCDC18,CDC14A,CNN3,DBT,DNAJA1P5,DNTTIP2,DPH5,DPYD,DPYD-AS1,DR1,EVI5,EXTL2,F3,FAM69A,FLJ31662,FNBP1L,FRRS1,GCLM,GPR88,HIAT1,LOC100128787,LOC100129046,LOC100129620,LOC100131564,LOC729970,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,MIR760,MTF2,OLFM3,PALMD,PTBP2,RNU6-6,RPL5,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNORA66,SNORD21,SNX7,TMED5,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1 chr1 93014867 93014961 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 30156326 30166376 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 PLEKHF1 chr1 93018297 93018429 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 30189794 30206452 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 C19orf12 chr1 93019938 93139007 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 30200000 37100000 Amplification Ovarian clear cell carcinoma FISH 19293255 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Deletion renal disease - 20603712 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Gain Barrett's adenocarcinoma FISH 18663352 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Gain Non-small cell lung cancer dChip 21829676 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Gain Ovarian cancer Affymetrix 20844748 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Loss Cancer array-based techniques 21183584 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Loss Honadal dysgenesis oligo V6.2 21048976 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 37100000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf40,C19orf55,CAPNS1,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DMKN,DPY19L3,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400684,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PDCD5,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RGS9BP,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,THEG5,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF507,ZNF529,ZNF536,ZNF565,ZNF566,ZNF599,ZNF792 chr19 30200000 40300000 Loss Disorders of sex development - 21048976 ACTN4,ALKBH6,ANKRD27,APLP1,ARHGAP33,ATP4A,C19orf12,C19orf33,C19orf40,C19orf55,CAPN12,CAPNS1,CATSPERG,CCNE1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLC,CLIP3,COX6B1,COX7A1,DKFZp566F0947,DLL3,DMKN,DPF1,DPY19L3,ECH1,EID2,EID2B,EIF3K,ETV2,FAM187B,FAM98C,FBXO17,FBXO27,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GGN,GMFG,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HKR1,HNRNPL,HPN,HSPB6,IGFLR1,IL28A,IL28B,IL29,KCNK6,KCTD15,KIAA0355,KIRREL2,KRTDAP,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100506469,LOC100507433,LOC100631378,LOC100652909,LOC284412,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LSM14A,LSR,MAG,MAP4K1,MED29,MIR4530,MIR5196,MLL4,MRPS12,NCCRP1,NFKBIB,NFKBID,NPHS1,NUDT19,OVOL3,PAF1,PAK4,PAPL,PDCD2L,PDCD5,PEPD,PLEKHG2,POLR2I,PPP1R14A,PRODH2,PSENEN,PSMD8,RASGRP4,RBM42,RGS9BP,RHPN2,RINL,RPS16,RYR1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SIPA1L3,SIRT2,SLC7A10,SLC7A9,SPINT2,SPRED3,SUPT5H,SYCN,SYNE4,TBCB,TDRD12,THAP8,THEG5,TIMM50,TMEM147,TSHZ3,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR87,WDR88,WTIP,YIF1B,ZBTB32,ZFP14,ZFP30,ZFP36,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF507,ZNF527,ZNF529,ZNF536,ZNF540,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 30200000 43000000 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ACTN4,ADCK4,AKT2,ALKBH6,ANKRD27,APLP1,ARHGAP33,ARHGEF1,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf12,C19orf33,C19orf40,C19orf47,C19orf54,C19orf55,C19orf69,CAPN12,CAPNS1,CATSPERG,CCDC97,CCNE1,CD22,CD79A,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CIC,CLC,CLIP3,CNFN,CNTD2,COX6B1,COX7A1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DKFZp566F0947,DLL3,DMKN,DMRTC2,DPF1,DPY19L3,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,ETV2,EXOSC5,FAM187B,FAM98C,FBL,FBXO17,FBXO27,FCGBP,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GGN,GMFG,GPATCH1,GPI,GRAMD1A,GRIK5,GSK3A,HAMP,HAUS5,HCST,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HSPB6,IGFLR1,IL28A,IL28B,IL29,ITPKC,KCNK6,KCTD15,KIAA0355,KIRREL2,KRTDAP,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00665,LIPE,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100505495,LOC100505622,LOC100506469,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC284412,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LSM14A,LSR,LTBP4,LYPD4,MAG,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR5196,MIR641,MLL4,MRPS12,NCCRP1,NFKBIB,NFKBID,NPHS1,NUDT19,NUMBL,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEPD,PLD3,PLEKHG2,POLR2I,POU2F2,PPP1R14A,PRODH2,PRR19,PRX,PSENEN,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RBM42,RGS9BP,RHPN2,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SLC7A10,SLC7A9,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,SYNE4,TBCB,TDRD12,TGFB1,THAP8,THEG5,TIMM50,TMEM145,TMEM147,TMEM91,TSHZ3,TTC9B,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,URI1,USF2,WDR62,WDR87,WDR88,WTIP,YIF1B,ZBTB32,ZFP14,ZFP30,ZFP36,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF507,ZNF526,ZNF527,ZNF529,ZNF536,ZNF540,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 30200000 61400000 Gain Breast cancer Array CGH 16608533 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 30200000 63811651 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf12,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CCNE1,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,THEG5,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSHZ3,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,URI1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF536,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr1 93023637 93023760 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 30302900 30315218 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 CCNE1 chr19 30326753 30326853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30352096 30352194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30414550 30506611 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 URI1 chr19 3045407 3072454 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 AES,TLE2 chr19 3045408 3072452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AES,TLE2 chr19 3045408 3072452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AES,TLE2 chr19 3045530 3072452 Gain and loss Pancreatic cancer SNP array 17952125 AES,TLE2 chr19 3049501 3057500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AES chr19 30504151 30504251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 URI1 chr19 30560000 32820000 Loss Breast cancer aCGH 21509527 DKFZp566F0947,THEG5,TSHZ3,ZNF536 chr19 3057501 3074500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AES chr19 30596538 30596628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30598726 30598826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93062801 93066800 Deletion Glioma mate-paired sequence 20126413 EVI5 chr1 93070182 93080068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr1 93070182 93080068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 30712830 30712930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30717205 30717279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30719237 30719270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3072508 3074793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 30741667 30741767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30744569 30744624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3074501 3099500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNA11 chr1 93075434 93075528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 30760067 30760161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30762109 30762209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30774809 30774909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93078864 93078996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr1 93080343 93199611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 3081713 3082397 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 93084204 93084327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 30855745 30855845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 30856370 30856470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3087191 3114766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNA11 chr19 3087191 3114766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNA11 chr19 3087230 3114741 Gain and loss Pancreatic cancer SNP array 17952125 GNA11 chr19 3099501 3101500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNA11 chr19 3101501 3103000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNA11 chr19 3103001 3122500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNA11 chr19 31052925 31053025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31145742 31145793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 9311532 10972289 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-287K arrays 21546498 APITD1,APITD1-CORT,C1orf200,CASZ1,CLSTN1,CORT,CTNNBIP1,DFFA,H6PD,KIF1B,LZIC,NMNAT1,PEX14,PGD,PIK3CD,RBP7,SLC25A33,SPSB1,TMEM201,UBE4B chr19 31194720 31194809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3122401 3127800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 3122501 3131500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 31262582 31262682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31292993 31293043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3129765 3131330 Copy number Lung cancer - 20668451 NOT_FOUND chr19 3129765 3131330 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 3129765 3131330 Gain or loss Cancer - 20668451 NOT_FOUND chr19 3129765 3131330 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 3129765 3131330 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 3129765 3131330 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 3129765 3131330 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 3129766 3131329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 3129766 3131329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 3129766 3131329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 313059 327009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIER2 chr19 313059 327009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIER2 chr19 3131501 3393000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELF5,GNA15,NCLN,NFIC,S1PR4 chr19 31346923 31347018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31348962 31349051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3136875 3160572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNA15 chr19 3137044 3160566 Gain and loss Pancreatic cancer SNP array 17952125 GNA15 chr19 313832 313876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIER2 chr19 31399900 31400000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31449284 31449384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93147182 93147287 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr1 93147182 93147288 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 31509143 31509233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93152406 93152701 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 3154805 3154902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNA15 chr19 3156002 3156061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNA15 chr19 31644250 31644350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31653496 31653596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31669791 31669891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31672285 31672382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93167521 93167734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EVI5 chr19 31690441 31690682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93169490 93170231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 31714272 31714357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31751804 31751904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3175701 3248071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELF5,NCLN,S1PR4 chr19 3175701 3248071 Gain and loss Pancreatic cancer SNP array 17952125 CELF5,NCLN,S1PR4 chr19 3175701 3248071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELF5,NCLN,S1PR4 chr19 31784564 31784664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ3 chr19 3179968 3180049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 S1PR4 chr19 31806070 31806160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ3 chr19 31871108 31871176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93187828 93187929 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr1 93187836 93187929 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 3191459 3191528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCLN chr19 31920066 31920139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 31969426 31969509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 32018608 32018675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93203830 93204009 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr1 93204459 93204581 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 32045796 32045851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93204990 93205075 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr1 93204990 93205089 Gain and loss Pancreatic cancer SNP array 17952125 EVI5 chr19 32129349 32129443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93212973 93213268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr1 93212974 93213268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 32143640 32143740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93222230 93222510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5 chr19 32298271 32298303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 32314184 32314274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 32339670 50358506 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTN4,ADCK4,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BLOC1S3,BLVRB,BSPH1,C19orf33,C19orf40,C19orf47,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C5AR1,CA11,CABP5,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD22,CD37,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHST8,CIC,CKM,CLASRP,CLC,CLIP3,CLPTM1,CNFN,CNTD2,COX6B1,COX7A1,CPT1C,CRX,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DPF1,DPY19L3,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EML2,EMP3,ERCC1,ERCC2,ERF,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM83E,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FKRP,FLT3LG,FOSB,FOXA3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GPATCH1,GPI,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGSF23,IL28A,IL28B,IL29,IRF2BP1,IRF3,IRGC,IRGQ,ITPKC,IZUMO1,KCNA7,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIRREL2,KLC3,KPTN,KRTDAP,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LIN37,LIN7B,LINC00665,LIPE,LMTK3,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC284344,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MED25,MED29,MEGF8,MEIS3,MIA,MIA-RAB4B,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR5088,MIR5196,MIR641,MIR642A,MIR642B,MIR769,MLL4,MRPS12,MYPOP,NANOS2,NAPA,NAPA-AS1,NCCRP1,NFKBIB,NFKBID,NKPD1,NOSIP,NOVA2,NPAS1,NPHS1,NTF4,NTN5,NUCB1,NUDT19,NUMBL,OPA3,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNMAL1,PNMAL2,POLR2I,POU2F2,PPFIA3,PPM1N,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRMT1,PRODH2,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RELB,RGS9BP,RHPN2,RINL,RNU6-66,RPL13A,RPL13AP5,RPL18,RPS11,RPS16,RPS19,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-E,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPINT2,SPRED3,SPTBN4,SRRM5,STRN4,SULT2A1,SULT2B1,SUPT5H,SYCN,SYMPK,SYNE4,SYNGR4,TBCB,TDRD12,TEAD2,TEX101,TGFB1,THAP8,TIMM50,TMEM143,TMEM145,TMEM147,TMEM160,TMEM91,TOMM40,TPRX1,TRAPPC6A,TRPM4,TSKS,TTC9B,TULP2,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,USF2,VASP,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZC3H4,ZFP112,ZFP14,ZFP30,ZFP36,ZFP82,ZNF114,ZNF146,ZNF155,ZNF180,ZNF181,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF260,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF404,ZNF420,ZNF428,ZNF45,ZNF461,ZNF507,ZNF526,ZNF527,ZNF529,ZNF540,ZNF541,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 32345771 32345846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 32400000 35500000 Amplification Pancreas cancer FISH and ABI 7900HT Fast Sequence Detection System 17332321 ANKRD27,C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,DPY19L3,GPATCH1,GPI,GRAMD1A,KCTD15,KIAA0355,LOC100652909,LOC400684,LOC400685,LRP3,LSM14A,NUDT19,PDCD2L,PDCD5,PEPD,RGS9BP,RHPN2,SCGB1B2P,SCGB2B2,SCGB2B3P,SLC7A10,SLC7A9,TDRD12,UBA2,WDR88,WTIP,ZNF181,ZNF30,ZNF302,ZNF507,ZNF599,ZNF792 chr19 32400000 35500000 Copy number Renal cell carcinoma quantification of RCCX modules 19150565 ANKRD27,C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,DPY19L3,GPATCH1,GPI,GRAMD1A,KCTD15,KIAA0355,LOC100652909,LOC400684,LOC400685,LRP3,LSM14A,NUDT19,PDCD2L,PDCD5,PEPD,RGS9BP,RHPN2,SCGB1B2P,SCGB2B2,SCGB2B3P,SLC7A10,SLC7A9,TDRD12,UBA2,WDR88,WTIP,ZNF181,ZNF30,ZNF302,ZNF507,ZNF599,ZNF792 chr19 32400000 35500000 Gain and amplification Multiple myeloma Array CGH 16616336 ANKRD27,C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,DPY19L3,GPATCH1,GPI,GRAMD1A,KCTD15,KIAA0355,LOC100652909,LOC400684,LOC400685,LRP3,LSM14A,NUDT19,PDCD2L,PDCD5,PEPD,RGS9BP,RHPN2,SCGB1B2P,SCGB2B2,SCGB2B3P,SLC7A10,SLC7A9,TDRD12,UBA2,WDR88,WTIP,ZNF181,ZNF30,ZNF302,ZNF507,ZNF599,ZNF792 chr19 32400000 35500000 Loss Glioblastoma multiforme FISH and array CGH 17369134 ANKRD27,C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,DPY19L3,GPATCH1,GPI,GRAMD1A,KCTD15,KIAA0355,LOC100652909,LOC400684,LOC400685,LRP3,LSM14A,NUDT19,PDCD2L,PDCD5,PEPD,RGS9BP,RHPN2,SCGB1B2P,SCGB2B2,SCGB2B3P,SLC7A10,SLC7A9,TDRD12,UBA2,WDR88,WTIP,ZNF181,ZNF30,ZNF302,ZNF507,ZNF599,ZNF792 chr19 32400000 35500000 Loss Myoepithelioma Array CGH 18604193 ANKRD27,C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,DPY19L3,GPATCH1,GPI,GRAMD1A,KCTD15,KIAA0355,LOC100652909,LOC400684,LOC400685,LRP3,LSM14A,NUDT19,PDCD2L,PDCD5,PEPD,RGS9BP,RHPN2,SCGB1B2P,SCGB2B2,SCGB2B3P,SLC7A10,SLC7A9,TDRD12,UBA2,WDR88,WTIP,ZNF181,ZNF30,ZNF302,ZNF507,ZNF599,ZNF792 chr19 32400000 43400000 Amplification Invasive pancreatic ductal carcinoma FISH 18765526 ACTN4,ADCK4,AKT2,ALKBH6,ANKRD27,APLP1,ARHGAP33,ARHGEF1,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf40,C19orf47,C19orf54,C19orf55,C19orf69,CAPN12,CAPNS1,CATSPERG,CCDC97,CD22,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CIC,CLC,CLIP3,CNFN,CNTD2,COX6B1,COX7A1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMKN,DMRTC2,DPF1,DPY19L3,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,ETV2,EXOSC5,FAM187B,FAM98C,FBL,FBXO17,FBXO27,FCGBP,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GGN,GMFG,GPATCH1,GPI,GRAMD1A,GRIK5,GSK3A,HAMP,HAUS5,HCST,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HSPB6,IGFLR1,IL28A,IL28B,IL29,ITPKC,KCNK6,KCTD15,KIAA0355,KIRREL2,KRTDAP,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00665,LIPE,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100289650,LOC100505495,LOC100505622,LOC100506469,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC284412,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LSM14A,LSR,LTBP4,LYPD4,MAG,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR5196,MIR641,MLL4,MRPS12,NCCRP1,NFKBIB,NFKBID,NPHS1,NUDT19,NUMBL,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEPD,PLD3,PLEKHG2,POLR2I,POU2F2,PPP1R14A,PRODH2,PRR19,PRX,PSENEN,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RBM42,RGS9BP,RHPN2,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SLC7A10,SLC7A9,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,SYNE4,TBCB,TDRD12,TGFB1,THAP8,TIMM50,TMEM145,TMEM147,TMEM91,TTC9B,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,USF2,WDR62,WDR87,WDR88,WTIP,YIF1B,ZBTB32,ZFP14,ZFP30,ZFP36,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF507,ZNF526,ZNF527,ZNF529,ZNF540,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 32400000 43400000 Amplification Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 ACTN4,ADCK4,AKT2,ALKBH6,ANKRD27,APLP1,ARHGAP33,ARHGEF1,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf40,C19orf47,C19orf54,C19orf55,C19orf69,CAPN12,CAPNS1,CATSPERG,CCDC97,CD22,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CIC,CLC,CLIP3,CNFN,CNTD2,COX6B1,COX7A1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMKN,DMRTC2,DPF1,DPY19L3,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,ETV2,EXOSC5,FAM187B,FAM98C,FBL,FBXO17,FBXO27,FCGBP,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GGN,GMFG,GPATCH1,GPI,GRAMD1A,GRIK5,GSK3A,HAMP,HAUS5,HCST,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HSPB6,IGFLR1,IL28A,IL28B,IL29,ITPKC,KCNK6,KCTD15,KIAA0355,KIRREL2,KRTDAP,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00665,LIPE,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100289650,LOC100505495,LOC100505622,LOC100506469,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC284412,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LSM14A,LSR,LTBP4,LYPD4,MAG,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR5196,MIR641,MLL4,MRPS12,NCCRP1,NFKBIB,NFKBID,NPHS1,NUDT19,NUMBL,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEPD,PLD3,PLEKHG2,POLR2I,POU2F2,PPP1R14A,PRODH2,PRR19,PRX,PSENEN,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RBM42,RGS9BP,RHPN2,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SLC7A10,SLC7A9,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,SYNE4,TBCB,TDRD12,TGFB1,THAP8,TIMM50,TMEM145,TMEM147,TMEM91,TTC9B,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,USF2,WDR62,WDR87,WDR88,WTIP,YIF1B,ZBTB32,ZFP14,ZFP30,ZFP36,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF507,ZNF526,ZNF527,ZNF529,ZNF540,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 32400000 59128983 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DPY19L3,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC400684,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF507,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 32423750 32432500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 32423840 32589269 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 32423840 32668336 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 32423840 32968041 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DPY19L3,LOC400684,ZNF507 chr19 32423840 32996198 Copy number loss Normal High-resolution SNP genotyping 21211785 DPY19L3,LOC400684,ZNF507 chr19 32423840 33053535 LOH Normal High-resolution SNP genotyping 21211785 DPY19L3,LOC400684,ZNF507 chr19 32423840 33129855 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,DPY19L3,LOC400684,PDCD5,ZNF507 chr19 32423840 33142987 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,DPY19L3,LOC400684,PDCD5,ZNF507 chr19 32423840 33252282 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,DPY19L3,LOC400684,NUDT19,PDCD5,RGS9BP,TDRD12,ZNF507 chr19 32423840 33308605 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,DPY19L3,LOC400684,NUDT19,PDCD5,RGS9BP,TDRD12,ZNF507 chr19 32423840 33328556 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,DPY19L3,LOC400684,NUDT19,PDCD5,RGS9BP,SLC7A9,TDRD12,ZNF507 chr19 32423840 33353489 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,DPY19L3,LOC400684,NUDT19,PDCD5,RGS9BP,SLC7A9,TDRD12,ZNF507 chr19 32423840 33400938 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,CEP89,DPY19L3,LOC400684,NUDT19,PDCD5,RGS9BP,SLC7A9,TDRD12,ZNF507 chr19 32423840 33624784 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,C19orf40,CEP89,DPY19L3,GPATCH1,LOC400684,NUDT19,PDCD5,RGS9BP,RHPN2,SLC7A9,TDRD12,WDR88,ZNF507 chr19 32425699 32427396 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32427367 32429065 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32428522 32431915 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32429810 32429880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 32432501 32441000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 32441001 32463000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 32443274 32968041 Copy number loss Normal High-resolution SNP genotyping 21211785 DPY19L3,LOC400684,ZNF507 chr19 32446662 32450556 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32448450 32462407 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32455241 32481458 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32463001 32528500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 32466741 32506349 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32480921 32480996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 32514119 32520769 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 93251475 93911974 LOH Normal High-resolution SNP genotyping 21211785 CCDC18,DR1,EVI5,FAM69A,LOC100131564,MTF2,RPL5,SNORA66,SNORD21,TMED5 chr19 32528501 32593500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 3253877 3284265 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CELF5 chr19 32545527 32545627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 32549450 32549618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 32551327 32594135 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32558249 32870482 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ZNF507 chr1 93256864 93315004 Gain and loss Pancreatic cancer SNP array 17952125 EVI5,FAM69A,RPL5,SNORA66,SNORD21 chr19 32572292 33047775 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DPY19L3,LOC400684,ZNF507 chr19 32581475 32658945 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32585120 33055810 Copy number loss Normal High-resolution SNP genotyping 21211785 DPY19L3,LOC400684,ZNF507 chr19 32593501 32600500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 32594031 33758638 Copy number Lung cancer paired-end sequencing 18438408 ANKRD27,C19orf40,CEP89,DPY19L3,GPATCH1,LOC400684,LRP3,NUDT19,PDCD5,RGS9BP,RHPN2,SLC7A10,SLC7A9,TDRD12,WDR88,ZNF507 chr19 32601704 32761177 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 32602001 32643000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 32615675 32935836 Gain Normal Illumina 300K SNP 19997636 DPY19L3,LOC400684,ZNF507 chr19 32629217 32722117 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 32630252 32630346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93264397 93264576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 93264397 93264687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 93265026 93265148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 32651846 33144611 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1152K arrays 21546498 ANKRD27,DPY19L3,LOC400684,PDCD5,ZNF507 chr19 32651846 33928074 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ANKRD27,C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,DPY19L3,GPATCH1,LOC400684,LRP3,NUDT19,PDCD5,PEPD,RGS9BP,RHPN2,SLC7A10,SLC7A9,TDRD12,WDR88,ZNF507 chr19 32653204 32655086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 32655579 32655678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 32658593 32953337 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DPY19L3,LOC400684,ZNF507 chr19 32658995 32661393 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 32690406 34776985 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 ANKRD27,C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,DPY19L3,GPATCH1,KCTD15,KIAA0355,LOC400684,LRP3,LSM14A,NUDT19,PDCD5,PEPD,RGS9BP,RHPN2,SLC7A10,SLC7A9,TDRD12,WDR88,ZNF507 chr19 32693950 32695324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 93272951 93304914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM69A,RPL5,SNORD21 chr19 327513 327607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIER2 chr19 32804210 32804242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3281210 3281275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELF5 chr19 32816501 32843500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF507 chr19 32817833 32818162 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 32821287 32823386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 32842516 33209953 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD27,DPY19L3,LOC400684,NUDT19,PDCD5,RGS9BP,ZNF507 chr19 32842516 33798612 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD27,C19orf40,CEBPA,CEBPA-AS1,CEP89,DPY19L3,GPATCH1,LOC400684,LRP3,NUDT19,PDCD5,RGS9BP,RHPN2,SLC7A10,SLC7A9,TDRD12,WDR88,ZNF507 chr19 32846299 32846407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF507 chr19 32852501 32863500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF507 chr19 32872001 32878000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF507 chr19 32899001 32904000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPY19L3 chr19 32906838 32911395 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DPY19L3 chr19 32916001 32930000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPY19L3 chr19 32920226 32925506 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DPY19L3 chr19 32928061 32947898 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 DPY19L3 chr19 32934001 32938000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPY19L3 chr19 32940501 32954500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPY19L3 chr19 32976501 32978500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPY19L3 chr19 32981858 61360576 Gain Urothelial carcinoma array CGH validated by FISH 21177765 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,ALKBH6,ANKRD27,AP2A1,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP4A,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf18,C19orf33,C19orf40,C19orf47,C19orf48,C19orf54,C19orf55,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CAPNS1,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD22,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CHST8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLIP3,CLPTM1,CNFN,CNOT3,CNTD2,COX6B1,COX6B2,COX7A1,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FFAR1,FFAR2,FFAR3,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,GALP,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPATCH1,GPI,GPR32,GPR4,GPR77,GRAMD1A,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAMP,HAS1,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HRC,HSD17B14,HSPB6,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KCTD15,KDELR1,KIAA0355,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KIRREL2,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,KRTDAP,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN37,LIN7B,LINC00085,LINC00665,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100128675,LOC100128682,LOC100129083,LOC100129935,LOC100131691,LOC100134317,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100506469,LOC100507003,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC400685,LOC643669,LOC644189,LOC644554,LOC646862,LOC728752,LRFN1,LRFN3,LRP3,LRRC4B,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR5196,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MLL4,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NFKBID,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NPHS1,NR1H2,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,OPA3,OSCAR,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PDCD5,PEG3,PEG3-AS1,PEPD,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POLR2I,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRODH2,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RBM42,RCN3,RDH13,RELB,RFPL4A,RGS9BP,RHPN2,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SBSN,SCAF1,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNE4,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TBCB,TDRD12,TEAD2,TEX101,TFPT,TGFB1,THAP8,TIMM50,TMC4,TMEM143,TMEM145,TMEM147,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,TYROBP,U2AF1L4,U2AF2,UBA2,UBE2M,UBE2S,UPK1A,UPK1A-AS1,USF2,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZBTB45,ZC3H4,ZFP112,ZFP14,ZFP28,ZFP30,ZFP36,ZFP82,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF146,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF181,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF260,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF529,ZNF530,ZNF534,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF599,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 32986351 32987972 Loss Normal 244K array 17666407 NOT_FOUND chr19 32989665 33010656 Loss Normal 244K array 17666407 NOT_FOUND chr19 33007597 33038719 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr1 93303931 93943890 LOH Normal High-resolution SNP genotyping 21211785 CCDC18,DR1,FAM69A,FNBP1L,LOC100131564,MTF2,RPL5,SNORA66,TMED5 chr1 93303931 94115716 LOH Normal High-resolution SNP genotyping 21211785 BCAR3,CCDC18,DR1,FAM69A,FNBP1L,LOC100129046,LOC100131564,MTF2,RPL5,SNORA66,TMED5 chr19 33053535 33072301 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 PDCD5 chr19 33053535 33072301 Total allelic loss Normal High-resolution SNP genotyping 21211785 PDCD5 chr19 33070501 33096500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD27,PDCD5 chr19 33072301 33624784 LOH Normal High-resolution SNP genotyping 21211785 ANKRD27,C19orf40,CEP89,GPATCH1,NUDT19,PDCD5,RGS9BP,RHPN2,SLC7A9,TDRD12,WDR88 chr19 3310616 3414603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFIC chr19 3310616 3414603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIC chr19 33119686 33166321 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD27,RGS9BP chr19 33165561 33165610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD27 chr1 93317431 93375571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM69A chr19 3317573 3414603 Gain and loss Pancreatic cancer SNP array 17952125 NFIC chr19 33198460 35707776 Amplification Gastric cancer array CGH 21811585 C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,FXYD1,FXYD3,FXYD5,FXYD7,GPATCH1,GPI,GRAMD1A,HPN,KCTD15,KIAA0355,LGI4,LOC100128675,LOC100652909,LOC400685,LRP3,LSM14A,NUDT19,PDCD2L,PEPD,RHPN2,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SLC7A10,SLC7A9,TDRD12,UBA2,WDR88,WTIP,ZNF181,ZNF30,ZNF302,ZNF599,ZNF792 chr19 33198460 36690656 Amplification Gastric cancer array CGH 21811585 ALKBH6,APLP1,ARHGAP33,ATP4A,C19orf40,C19orf55,CAPNS1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DMKN,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LOC100128675,LOC100128682,LOC100506469,LOC100652909,LOC400685,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,NUDT19,OVOL3,PDCD2L,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,TDRD12,THAP8,TMEM147,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZNF181,ZNF30,ZNF302,ZNF565,ZNF599,ZNF792 chr19 33209555 34139321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,GPATCH1,LRP3,PEPD,RHPN2,SLC7A10,SLC7A9,TDRD12,WDR88 chr19 33232790 33232822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TDRD12 chr19 33292212 33292300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93329436 93358267 Gain and loss Pancreatic cancer SNP array 17952125 FAM69A chr19 33296617 33296723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 33300312 33300355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 33315121 37120074 Loss Prostate cancer Array CGH 18632612 ALKBH6,APLP1,ARHGAP33,ATP4A,C19orf40,C19orf55,CAPNS1,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CLIP3,COX6B1,COX7A1,DMKN,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HAUS5,HCST,HPN,HSPB6,IGFLR1,KCTD15,KIAA0355,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100652909,LOC400685,LOC644189,LOC728752,LRFN3,LRP3,LSM14A,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,OVOL3,PDCD2L,PEPD,POLR2I,PRODH2,PSENEN,RBM42,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SLC7A10,SLC7A9,SYNE4,TBCB,THAP8,TMEM147,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,USF2,WDR62,WDR88,WTIP,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF382,ZNF529,ZNF565,ZNF566,ZNF599,ZNF792 chr1 933317 933472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 33328556 34039386 LOH Normal High-resolution SNP genotyping 21211785 C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,GPATCH1,LRP3,PEPD,RHPN2,SLC7A10,SLC7A9,WDR88 chr19 33341998 34282710 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 C19orf40,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,GPATCH1,LRP3,PEPD,RHPN2,SLC7A10,SLC7A9,WDR88 chr19 33399431 36074781 Amplification Gastric cancer array CGH 21811585 ATP4A,C19orf40,CD22,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,DMKN,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GPATCH1,GPI,GRAMD1A,HAMP,HPN,KCTD15,KIAA0355,KRTDAP,LGI4,LOC100128675,LOC100128682,LOC100506469,LOC100652909,LOC400685,LRP3,LSM14A,LSR,MAG,MIR5196,PDCD2L,PEPD,RHPN2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SLC7A10,TMEM147,UBA2,USF2,WDR88,WTIP,ZNF181,ZNF30,ZNF302,ZNF599,ZNF792 chr19 33426267 48389019 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTN4,ADCK4,AKT2,ALKBH6,AP2S1,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT8,B9D2,BBC3,BCAM,BCKDHA,BCL3,BLOC1S3,BLVRB,C19orf33,C19orf40,C19orf47,C19orf54,C19orf55,C19orf69,C5AR1,CADM4,CALM3,CAPN12,CAPNS1,CATSPERG,CBLC,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD22,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CHST8,CIC,CKM,CLASRP,CLC,CLIP3,CLPTM1,CNFN,CNTD2,COX6B1,COX7A1,CRX,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DACT3,DACT3-AS1,DEDD2,DHX34,DKFZp434J0226,DLL3,DMKN,DMPK,DMRTC2,DMWD,DPF1,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,EML2,ERCC1,ERCC2,ERF,ETHE1,ETV2,EXOC3L2,EXOSC5,FAM187B,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCGBP,FFAR1,FFAR2,FFAR3,FKRP,FOSB,FOXA3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GPATCH1,GPI,GPR4,GPR77,GRAMD1A,GRIK5,GSK3A,HAMP,HAUS5,HCST,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HPN,HSPB6,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGSF23,IL28A,IL28B,IL29,IRF2BP1,IRGC,IRGQ,ITPKC,KCNK6,KCNN4,KCTD15,KIAA0355,KIRREL2,KLC3,KPTN,KRTDAP,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00665,LIPE,LOC100128675,LOC100128682,LOC100129935,LOC100134317,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100506469,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC284344,LOC284412,LOC388553,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN1,LRFN3,LRP3,LSM14A,LSR,LTBP4,LYPD3,LYPD4,LYPD5,MAG,MAP3K10,MAP4K1,MARK4,MED29,MEGF8,MEIS3,MIA,MIA-RAB4B,MIR3190,MIR3191,MIR320E,MIR330,MIR4323,MIR4530,MIR4531,MIR5196,MIR641,MIR642A,MIR642B,MIR769,MLL4,MRPS12,MYPOP,NANOS2,NAPA,NAPA-AS1,NCCRP1,NFKBIB,NFKBID,NKPD1,NOVA2,NPAS1,NPHS1,NUMBL,OPA3,OVOL3,PAF1,PAFAH1B3,PAK4,PAPL,PDCD2L,PEPD,PGLYRP1,PHLDB3,PINLYP,PLAUR,PLD3,PLEKHG2,PNMAL1,PNMAL2,POLR2I,POU2F2,PPM1N,PPP1R13L,PPP1R14A,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRODH2,PRR19,PRR24,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RBM42,RELB,RHPN2,RINL,RNU6-66,RPS16,RPS19,RSPH6A,RTN2,RYR1,SAE1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SEPW1,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SIX5,SLC1A5,SLC7A10,SLC8A2,SMG9,SNAR-E,SNORD23,SNRPA,SNRPD2,SPINT2,SPRED3,SPTBN4,SRRM5,STRN4,SULT2A1,SUPT5H,SYCN,SYMPK,SYNE4,TBCB,TEX101,TGFB1,THAP8,TIMM50,TMEM145,TMEM147,TMEM160,TMEM91,TOMM40,TPRX1,TRAPPC6A,TTC9B,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,USF2,VASP,WDR62,WDR87,WDR88,WTIP,XRCC1,YIF1B,ZBTB32,ZC3H4,ZFP112,ZFP14,ZFP30,ZFP36,ZFP82,ZNF146,ZNF155,ZNF180,ZNF181,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF260,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF404,ZNF420,ZNF428,ZNF45,ZNF461,ZNF526,ZNF527,ZNF529,ZNF540,ZNF541,ZNF546,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 33432805 33565906 Copy number loss Normal High-resolution SNP genotyping 21211785 C19orf40,CEP89,RHPN2 chr19 33496463 35629736 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 CEBPA,CEBPA-AS1,CEBPG,CHST8,FXYD1,FXYD3,GPATCH1,GPI,GRAMD1A,HPN,KCTD15,KIAA0355,LGI4,LOC100128675,LOC100652909,LOC400685,LRP3,LSM14A,PDCD2L,PEPD,RHPN2,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SLC7A10,UBA2,WDR88,WTIP,ZNF181,ZNF30,ZNF302,ZNF599,ZNF792 chr19 33543182 33544101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RHPN2 chr1 93358299 93456184 Gain and loss Pancreatic cancer SNP array 17952125 FAM69A chr19 33606515 33606816 Deletion Medulloblastoma Illumina SNP arrays 21163964 GPATCH1 chr19 33625864 33625955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR88 chr19 33631953 33677565 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR88 chr19 33773234 34522654 Copy number Lung cancer paired-end sequencing 18438408 CEBPA,CEBPA-AS1,CEBPG,CHST8,KCTD15,PEPD chr19 33811612 33811937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 33859902 33859997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 33860082 33860166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 33865818 33890820 Gain and loss Pancreatic cancer SNP array 17952125 CEBPG,PEPD chr19 33886996 33907087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEPD chr1 93389996 93418834 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 FAM69A chr1 93390018 93418834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM69A chr1 93390018 93418834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM69A chr19 33905456 33906995 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PEPD chr19 3393001 3397500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFIC chr19 33934258 35965262 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CD22,CHST8,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GPI,GRAMD1A,HAMP,HPN,KCTD15,KIAA0355,LGI4,LOC100128675,LOC100128682,LOC100652909,LOC400685,LSM14A,LSR,MAG,MIR5196,PDCD2L,PEPD,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,UBA2,USF2,WTIP,ZNF181,ZNF30,ZNF302,ZNF599,ZNF792 chr19 339413 371755 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 MIER2,THEG chr19 33941695 34317433 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 CHST8,KCTD15,PEPD chr19 33973508 33974754 Gain and loss Pancreatic cancer SNP array 17952125 PEPD chr19 3397501 3627500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C19orf71,C19orf77,CACTIN,CACTIN-AS1,DOHH,FZR1,GIPC3,HMG20B,MFSD12,NFIC,TBXA2R chr19 33988079 34033088 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PEPD chr19 340199 340250 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIER2 chr19 34028845 34031595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 34029192 34031422 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 34038496 34356975 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHST8,KCTD15 chr19 34045501 34554500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHST8,KCTD15 chr19 3407514 3414031 Loss Autism 1M Ailent CGH whole-genome array 21865298 NFIC chr19 34094825 34094922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 34108072 34108148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 34113750 34113851 Gain and loss Pancreatic cancer SNP array 17952125 CHST8 chr19 34113750 34113851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST8 chr1 93411689 93542922 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 FAM69A chr19 34148510 34149929 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CHST8 chr19 34184414 34184503 Gain and loss Pancreatic cancer SNP array 17952125 CHST8 chr19 34184414 34184503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST8 chr1 93418508 93516875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM69A chr1 93418508 93516875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM69A chr1 9342438 9342523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3425406 3434401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFIC chr19 3425406 3434401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIC chr19 3425750 3434401 Gain and loss Pancreatic cancer SNP array 17952125 NFIC chr19 34269655 34296944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCTD15 chr19 34270313 34270387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93427499 93427592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 93428885 93429205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 34291874 34291906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCTD15 chr19 34356559 34877719 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 GPI,KIAA0355,LSM14A chr1 93437900 93438084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 34381502 34416771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 34390007 34395954 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 34390007 34395954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 34390062 34395865 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 34390137 34395883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 34390137 34395883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 34415837 34416132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 34415837 34416132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 34415838 34416132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 3441824 3451621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFIC chr19 3441824 3451621 Gain and loss Pancreatic cancer SNP array 17952125 NFIC chr19 3441824 3451621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFIC chr19 34449595 34483841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 34459191 34493404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 3448813 3723219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf71,C19orf77,CACTIN,CACTIN-AS1,DOHH,FZR1,GIPC3,HMG20B,MFSD12,NFIC,PIP5K1C,TBXA2R,TJP3 chr19 3448813 3723219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf71,C19orf77,CACTIN,CACTIN-AS1,DOHH,FZR1,GIPC3,HMG20B,MFSD12,NFIC,PIP5K1C,TBXA2R,TJP3 chr19 34489178 34489278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 34522544 35852544 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 CD22,FAM187B,FFAR1,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GPI,GRAMD1A,HAMP,HPN,KIAA0355,LGI4,LOC100128675,LOC100652909,LOC400685,LSM14A,LSR,MAG,MIR5196,PDCD2L,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,UBA2,USF2,WTIP,ZNF181,ZNF30,ZNF302,ZNF599,ZNF792 chr19 34539488 39658064 Copy number Lung cancer paired-end sequencing 18438408 ACTN4,ALKBH6,APLP1,ARHGAP33,ATP4A,C19orf33,C19orf55,CAPN12,CAPNS1,CATSPERG,CD22,CLIP3,COX6B1,COX7A1,DMKN,DPF1,ECH1,EIF3K,ETV2,FAM187B,FAM98C,FBXO17,FBXO27,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GGN,GPI,GRAMD1A,HAMP,HAUS5,HCST,HKR1,HNRNPL,HPN,HSPB6,IGFLR1,KCNK6,KIAA0355,KIRREL2,KRTDAP,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100507433,LOC100631378,LOC100652909,LOC284412,LOC400685,LOC643669,LOC644189,LOC644554,LOC728752,LRFN3,LSM14A,LSR,MAG,MAP4K1,MIR5196,MLL4,MRPS12,NFKBIB,NFKBID,NPHS1,OVOL3,PAK4,PAPL,PDCD2L,POLR2I,PPP1R14A,PRODH2,PSENEN,PSMD8,RASGRP4,RBM42,RINL,RYR1,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SIPA1L3,SIRT2,SPINT2,SPRED3,SYNE4,TBCB,THAP8,TMEM147,TYROBP,U2AF1L4,UBA2,UPK1A,UPK1A-AS1,USF2,WDR62,WDR87,WTIP,YIF1B,ZBTB32,ZFP14,ZFP30,ZFP82,ZNF146,ZNF181,ZNF260,ZNF30,ZNF302,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF527,ZNF529,ZNF540,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF792,ZNF793,ZNF829,ZNF850 chr19 34550000 35020000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 GPI,KIAA0355,LSM14A,PDCD2L,UBA2,WTIP chr19 34550000 35020000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 GPI,KIAA0355,LSM14A,PDCD2L,UBA2,WTIP chr19 34554501 34583500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 3457368 3489325 Gain and loss Pancreatic cancer SNP array 17952125 C19orf77,NFIC chr19 34583501 34626000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 34620762 34657151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 34625412 34650375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 34626001 34699000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LSM14A chr19 34627007 34655197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 34635356 34649930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 34639073 34649056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 34639404 34650127 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 34640101 34649800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 34642025 34648007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 34699001 34717000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LSM14A chr19 34709331 34712889 Gain and loss Pancreatic cancer SNP array 17952125 LSM14A chr19 34709331 34746681 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIAA0355,LSM14A chr19 34709331 34747045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0355,LSM14A chr19 34717001 34855500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0355,LSM14A chr19 3472250 3472318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 3473954 3489325 Amplification T-cell lymphomas Array-CGH 22341440 C19orf77 chr19 3473954 3489325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf77 chr19 3473954 3489325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf77 chr19 34762868 34763098 Gain Normal 244K array 17666407 KIAA0355 chr19 34785992 34798546 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIAA0355 chr19 34785992 34798546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0355 chr19 34785992 34798546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0355 chr19 34789040 34798547 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 KIAA0355 chr19 34789041 34798546 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0355 chr19 34790000 35420000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 GPI,KIAA0355,LOC100652909,LOC400685,PDCD2L,SCGB1B2P,SCGB2B2,SCGB2B3P,UBA2,WTIP,ZNF181,ZNF30,ZNF302,ZNF599 chr19 34797996 34798411 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 KIAA0355 chr19 3480074 3480217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C19orf77 chr19 34837868 35531900 Gain Breast cancer 244K CGH oligonucleotide microarrays 20932292 GPI,GRAMD1A,HPN,KIAA0355,LOC100652909,LOC400685,PDCD2L,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,UBA2,WTIP,ZNF181,ZNF30,ZNF302,ZNF599,ZNF792 chr19 34847803 34858204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPI chr19 34847803 34858204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPI chr19 34847803 34858204 Gain and loss Pancreatic cancer SNP array 17952125 GPI chr19 34847803 34858204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPI chr19 34855501 34865500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPI chr19 34865030 35127210 Amplification Gastric cancer array CGH 21811585 GPI,PDCD2L,SCGB1B2P,SCGB2B2,UBA2,WTIP chr19 34865501 34877500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPI chr19 34877501 34881000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPI chr19 34881001 34976000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPI,PDCD2L,UBA2,WTIP chr19 34881634 34898292 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPI,PDCD2L chr19 34881634 34898292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPI,PDCD2L chr19 34881634 34898292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPI,PDCD2L chr19 34883915 34897989 Gain and loss Pancreatic cancer SNP array 17952125 GPI,PDCD2L chr19 34883970 34891160 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 GPI chr19 34887276 35388638 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 GPI,LOC100652909,LOC400685,PDCD2L,SCGB1B2P,SCGB2B2,SCGB2B3P,UBA2,WTIP,ZNF181,ZNF302,ZNF599 chr19 3489263 3508571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOHH,FZR1 chr19 3489263 3508571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOHH,FZR1 chr19 349001 1359500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCA7,ARID3A,ATP5D,AZU1,BSG,C19orf21,C19orf24,C19orf26,C19orf6,C2CD4C,CDC34,CFD,CIRBP,CIRBP-AS1,CNN2,EFNA2,ELANE,FGF22,FSTL3,GPX4,GRIN3B,GZMM,HCN2,HMHA1,KISS1R,LPPR3,MADCAM1,MED16,MIDN,MIR3187,MIR4745,MUM1,ODF3L2,PALM,POLR2E,POLRMT,PRSS57,PRTN3,PTBP1,R3HDM4,RNF126,SBNO2,SHC2,STK11,THEG,TPGS1,WDR18 chr19 3490152 3495028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOHH chr19 3490176 3494996 Gain and loss Pancreatic cancer SNP array 17952125 DOHH chr19 3490356 3490787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 34933380 35097525 Amplification Breast cancer Illumina high-density SNP arrays 18852474 SCGB1B2P,SCGB2B2,UBA2,WTIP chr19 34934008 35059410 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 UBA2,WTIP chr1 93494992 93495092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3495198 3508571 Gain and loss Pancreatic cancer SNP array 17952125 DOHH,FZR1 chr19 34974744 34974840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WTIP chr19 34975531 35098303 Amplification Cancer Affymetrix 250K Sty array 20164920 SCGB1B2P,SCGB2B2,WTIP chr19 34976001 35086500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCGB1B2P,SCGB2B2,WTIP chr19 34978732 35707776 Amplification Gastric cancer array CGH 21811585 FXYD1,FXYD3,FXYD5,FXYD7,GRAMD1A,HPN,LGI4,LOC100128675,LOC100652909,LOC400685,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,WTIP,ZNF181,ZNF30,ZNF302,ZNF599,ZNF792 chr1 93498095 93498220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 34981291 34981396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WTIP chr1 93498213 93498400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 34982141 34982241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WTIP chr1 93498244 93498344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 34982652 35002397 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 WTIP chr19 34987906 35032546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WTIP chr19 34992304 34996897 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr19 34994740 35007059 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 NOT_FOUND chr19 34994740 35007059 Amplification Pancreatic cancer Genome Analyser II,MAQ algorithm 20981101 NOT_FOUND chr19 34994740 35007059 Copy number Lung cancer - 20668451 NOT_FOUND chr19 34994740 35007059 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 NOT_FOUND chr19 34994740 35007059 Deletioneted Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 NOT_FOUND chr19 34994740 35007059 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 34994740 35007059 Gain or loss Cancer - 20668451 NOT_FOUND chr19 34994740 35007059 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 34994740 35007059 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 34994740 35007059 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 34994740 35007059 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 34994740 35007059 Neutral Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 NOT_FOUND chr19 34994741 35007054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 34994741 35007056 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 34994741 35007056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 34994741 35007056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 34994774 35007039 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 35000000 35700000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 FXYD1,FXYD3,FXYD5,FXYD7,GRAMD1A,HPN,LGI4,LOC100128675,LOC100652909,LOC400685,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,ZNF181,ZNF30,ZNF302,ZNF599,ZNF792 chr19 35008586 35009078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 35023882 35023982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 35061465 35087387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB1B2P,SCGB2B2 chr19 35068789 35101616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB2B2 chr19 35071061 35088309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB2B2 chr19 35074732 35091083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB2B2 chr19 35077524 35085590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB2B2 chr19 35078359 35078582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 35079001 35086700 Deletion Glioma mate-paired sequence 20126413 SCGB2B2 chr19 35080028 35101604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCGB2B2 chr19 35080628 35084937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCGB2B2 chr19 35080631 35084940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCGB2B2 chr19 35086501 35132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 35092730 35093029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 35103899 35104399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 35106390 35198453 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 SCGB2B3P,ZNF302 chr19 35106391 35198451 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SCGB2B3P,ZNF302 chr19 35106391 35198451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCGB2B3P,ZNF302 chr19 35106391 35198451 Gain and loss Pancreatic cancer SNP array 17952125 SCGB2B3P,ZNF302 chr19 35106391 35198451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCGB2B3P,ZNF302 chr19 35125351 35198176 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 SCGB2B3P,ZNF302 chr19 35139162 35139735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 35139162 35139735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 35146604 35146663 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr1 93517106 93517274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 35212048 35212284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 35220170 35220931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 35220170 35220937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 93523499 93540167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 3523936 3530086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FZR1 chr19 3523936 3530086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FZR1 chr19 3523953 3539941 Gain and loss Pancreatic cancer SNP array 17952125 C19orf71,FZR1,MFSD12 chr19 35242421 35242520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 35245001 35356000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC400685,ZNF599 chr19 3524577 3524661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FZR1 chr19 353214 3505632 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ABCA7,ADAMTSL5,ADAT3,AES,AMH,AP3D1,APC2,ARID3A,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf77,C2CD4C,CDC34,CELF5,CFD,CIRBP,CIRBP-AS1,CNN2,CSNK1G2,CSNK1G2-AS1,DAZAP1,DIRAS1,DOHH,DOT1L,EFNA2,ELANE,FAM108A1,FGF22,FSTL3,GADD45B,GAMT,GNA11,GNA15,GNG7,GPX4,GRIN3B,GZMM,HCN2,HMHA1,IZUMO4,JSRP1,KISS1R,KLF16,LINGO3,LMNB2,LOC100288123,LPPR3,LSM7,MADCAM1,MBD3,MED16,MEX3D,MIDN,MIR1227,MIR1909,MIR3187,MIR4321,MIR4745,MKNK2,MOB3A,MUM1,NCLN,NDUFS7,NFIC,OAZ1,ODF3L2,ONECUT3,PALM,PCSK4,PLEKHJ1,PLK5,POLR2E,POLRMT,PRSS57,PRTN3,PTBP1,R3HDM4,REEP6,REXO1,RNF126,RPS15,S1PR4,SBNO2,SCAMP4,SF3A2,SGTA,SHC2,SLC39A3,SPPL2B,STK11,TCF3,THEG,THOP1,TIMM13,TLE2,TLE6,TMPRSS9,TPGS1,UQCR11,WDR18,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77 chr19 35323854 35326677 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 35329469 35329563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 35356001 35929000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD22,FAM187B,FFAR1,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GRAMD1A,HAMP,HPN,LGI4,LOC100128675,LOC100128682,LOC100652909,LSR,MAG,MIR5196,SCN1B,USF2,ZNF30,ZNF792 chr19 3536569 3541434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf71,FZR1,MFSD12 chr19 3536569 3541434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf71,FZR1,MFSD12 chr19 3536596 3541434 Gain and loss Pancreatic cancer SNP array 17952125 C19orf71,FZR1,MFSD12 chr19 35378612 35422894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100652909,ZNF30 chr19 3545503 3557658 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 MFSD12 chr19 3545504 3557658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MFSD12 chr19 3545504 3557658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFSD12 chr19 3545834 3557658 Gain and loss Pancreatic cancer SNP array 17952125 MFSD12 chr19 3546320 3546370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MFSD12 chr19 35500000 38300000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ALKBH6,APLP1,ARHGAP33,ATP4A,C19orf55,CAPNS1,CD22,CLIP3,COX6B1,COX7A1,DMKN,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GRAMD1A,HAMP,HAUS5,HCST,HKR1,HPN,HSPB6,IGFLR1,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100507433,LOC284412,LOC644189,LOC728752,LRFN3,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,OVOL3,POLR2I,PRODH2,PSENEN,RBM42,SBSN,SCN1B,SDHAF1,SYNE4,TBCB,THAP8,TMEM147,TYROBP,U2AF1L4,UPK1A,UPK1A-AS1,USF2,WDR62,ZBTB32,ZFP14,ZFP30,ZFP82,ZNF146,ZNF260,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF527,ZNF529,ZNF540,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 35500000 38300000 Gain and amplification Multiple myeloma Array CGH 16616336 ALKBH6,APLP1,ARHGAP33,ATP4A,C19orf55,CAPNS1,CD22,CLIP3,COX6B1,COX7A1,DMKN,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GRAMD1A,HAMP,HAUS5,HCST,HKR1,HPN,HSPB6,IGFLR1,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100507433,LOC284412,LOC644189,LOC728752,LRFN3,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,OVOL3,POLR2I,PRODH2,PSENEN,RBM42,SBSN,SCN1B,SDHAF1,SYNE4,TBCB,THAP8,TMEM147,TYROBP,U2AF1L4,UPK1A,UPK1A-AS1,USF2,WDR62,ZBTB32,ZFP14,ZFP30,ZFP82,ZNF146,ZNF260,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF527,ZNF529,ZNF540,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 35500000 38300000 Gain Basal cell lymphoma Array CGH 19029149 ALKBH6,APLP1,ARHGAP33,ATP4A,C19orf55,CAPNS1,CD22,CLIP3,COX6B1,COX7A1,DMKN,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GRAMD1A,HAMP,HAUS5,HCST,HKR1,HPN,HSPB6,IGFLR1,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100507433,LOC284412,LOC644189,LOC728752,LRFN3,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,OVOL3,POLR2I,PRODH2,PSENEN,RBM42,SBSN,SCN1B,SDHAF1,SYNE4,TBCB,THAP8,TMEM147,TYROBP,U2AF1L4,UPK1A,UPK1A-AS1,USF2,WDR62,ZBTB32,ZFP14,ZFP30,ZFP82,ZNF146,ZNF260,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF527,ZNF529,ZNF540,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 35500000 38300000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 ALKBH6,APLP1,ARHGAP33,ATP4A,C19orf55,CAPNS1,CD22,CLIP3,COX6B1,COX7A1,DMKN,ETV2,FAM187B,FFAR1,FFAR2,FFAR3,FXYD1,FXYD3,FXYD5,FXYD7,GAPDHS,GRAMD1A,HAMP,HAUS5,HCST,HKR1,HPN,HSPB6,IGFLR1,KIRREL2,KRTDAP,LGI4,LIN37,LINC00665,LOC100128675,LOC100128682,LOC100134317,LOC100506469,LOC100507433,LOC284412,LOC644189,LOC728752,LRFN3,LSR,MAG,MIR5196,MLL4,NFKBID,NPHS1,OVOL3,POLR2I,PRODH2,PSENEN,RBM42,SBSN,SCN1B,SDHAF1,SYNE4,TBCB,THAP8,TMEM147,TYROBP,U2AF1L4,UPK1A,UPK1A-AS1,USF2,WDR62,ZBTB32,ZFP14,ZFP30,ZFP82,ZNF146,ZNF260,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF527,ZNF529,ZNF540,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 35555168 35740805 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM187B,FXYD1,FXYD3,FXYD5,FXYD7,HPN,LGI4,LOC100128675,LSR chr19 35555168 35740805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM187B,FXYD1,FXYD3,FXYD5,FXYD7,HPN,LGI4,LOC100128675,LSR chr19 35555168 35740805 Gain and loss Pancreatic cancer SNP array 17952125 FAM187B,FXYD1,FXYD3,FXYD5,FXYD7,HPN,LGI4,LOC100128675,LSR chr19 35555168 35740805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM187B,FXYD1,FXYD3,FXYD5,FXYD7,HPN,LGI4,LOC100128675,LSR chr19 35557808 35558067 Loss or gain Normal 244K array 17666407 LOC100128675 chr1 93556383 94467756 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCA4,BCAR3,CCDC18,DNTTIP2,DR1,FNBP1L,GCLM,LOC100129046,LOC100131564,MIR760,MTF2,TMED5 chr1 93556383 94467756 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCA4,BCAR3,CCDC18,DNTTIP2,DR1,FNBP1L,GCLM,LOC100129046,LOC100131564,MIR760,MTF2,TMED5 chr19 35566680 35567065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100128675 chr19 3558245 3564928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 35606125 35606190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3561648 3574961 Gain and loss Pancreatic cancer SNP array 17952125 HMG20B chr19 3561650 3577813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HMG20B chr19 3561650 3577813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMG20B chr1 93563289 93563393 Gain and loss Pancreatic cancer SNP array 17952125 MTF2 chr19 356508 360145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 35709175 35709490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 93572036 93572092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTF2 chr19 35721672 35736474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 35770059 36290110 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP33,ATP4A,C19orf55,CD22,COX6B1,DMKN,ETV2,FFAR1,FFAR2,FFAR3,GAPDHS,HAMP,HAUS5,HSPB6,IGFLR1,KRTDAP,LIN37,LOC100128682,LOC100506469,MAG,MIR5196,MLL4,PSENEN,RBM42,SBSN,TMEM147,U2AF1L4,UPK1A,UPK1A-AS1,USF2,ZBTB32 chr19 35770059 36625384 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALKBH6,APLP1,ARHGAP33,ATP4A,C19orf55,CD22,CLIP3,COX6B1,DMKN,ETV2,FFAR1,FFAR2,FFAR3,GAPDHS,HAMP,HAUS5,HCST,HSPB6,IGFLR1,KIRREL2,KRTDAP,LIN37,LOC100128682,LOC100506469,LRFN3,MAG,MIR5196,MLL4,NFKBID,NPHS1,OVOL3,POLR2I,PRODH2,PSENEN,RBM42,SBSN,SDHAF1,SYNE4,TBCB,THAP8,TMEM147,TYROBP,U2AF1L4,UPK1A,UPK1A-AS1,USF2,WDR62,ZBTB32 chr19 35796967 35797067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAG chr19 358096 360145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 3581182 3651445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACTIN,CACTIN-AS1,GIPC3,PIP5K1C,TBXA2R chr19 3581182 3651445 Gain and loss Pancreatic cancer SNP array 17952125 CACTIN,CACTIN-AS1,GIPC3,PIP5K1C,TBXA2R chr19 3581182 3651445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACTIN,CACTIN-AS1,GIPC3,PIP5K1C,TBXA2R chr19 35835000 36303000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 ARHGAP33,ATP4A,C19orf55,CD22,COX6B1,DMKN,ETV2,FFAR1,FFAR2,FFAR3,GAPDHS,HAUS5,HSPB6,IGFLR1,KRTDAP,LIN37,LOC100128682,LOC100506469,MIR5196,MLL4,PRODH2,PSENEN,RBM42,SBSN,TMEM147,U2AF1L4,UPK1A,UPK1A-AS1,ZBTB32 chr1 93584066 93600732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTF2 chr1 93584066 93600732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTF2 chr19 35847080 35879739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FFAR3 chr1 93589482 97369434 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ABCA4,ABCD3,ALG14,ARHGAP29,BCAR3,CCDC18,CNN3,DNTTIP2,DR1,F3,FLJ31662,FNBP1L,GCLM,LOC100129046,LOC100131564,LOC729970,MIR760,MTF2,PTBP2,RWDD3,SLC44A3,TMED5,TMEM56,TMEM56-RWDD3 chr19 3591970 3592044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GIPC3 chr19 35925459 35925559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 35955766 35988210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMKN,KRTDAP chr19 35964301 35964401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 35977501 35983300 Deletion Glioma mate-paired sequence 20126413 KRTDAP chr19 35978675 35981288 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KRTDAP chr19 35979790 35980636 Loss Normal 244K array 17666407 KRTDAP chr19 35992500 35992600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMKN chr1 936110 941162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 3612656 3612712 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CACTIN,CACTIN-AS1 chr19 36150000 37020000 Gain Breast cancer aCGH 21509527 ALKBH6,APLP1,ARHGAP33,C19orf55,CAPNS1,CLIP3,COX7A1,HCST,HSPB6,IGFLR1,KIRREL2,LIN37,LINC00665,LOC100134317,LOC644189,LOC728752,LRFN3,MLL4,NFKBID,NPHS1,OVOL3,POLR2I,PRODH2,PSENEN,SDHAF1,SYNE4,TBCB,THAP8,TYROBP,U2AF1L4,UPK1A,UPK1A-AS1,WDR62,ZBTB32,ZFP14,ZFP82,ZNF146,ZNF260,ZNF565,ZNF566 chr19 36152321 36152421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 361764 362059 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 THEG chr1 9362106 9362200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPSB1 chr1 93622632 93623143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMED5 chr1 93623856 93623962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMED5 chr1 93625860 93728774 Gain and loss Pancreatic cancer SNP array 17952125 CCDC18,TMED5 chr19 3625985 3626069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACTIN chr19 3627501 4012000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APBA3,ATCAY,DAPK3,EEF2,MATK,MIR637,MRPL54,NMRK2,PIAS4,PIP5K1C,RAX2,SNORD37,TJP3,ZFR2 chr1 936289 936341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 36332201 36336595 Gain and loss Pancreatic cancer SNP array 17952125 NPHS1 chr19 36332202 36332597 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPHS1 chr19 36333875 36333975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPHS1 chr19 36336166 36336234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPHS1 chr19 36338187 36354904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIRREL2,NPHS1 chr19 36343161 36363983 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 APLP1,KIRREL2 chr19 36364571 36364671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APLP1 chr19 36398602 36398697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TYROBP chr19 36425483 36425602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 36432646 36453416 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LRFN3 chr19 36457690 36532030 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ALKBH6,CLIP3,SDHAF1,SYNE4,THAP8 chr19 36457691 36532271 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALKBH6,CLIP3,SDHAF1,SYNE4,THAP8 chr19 36457691 36532271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALKBH6,CLIP3,SDHAF1,SYNE4,THAP8 chr19 36457691 36532271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALKBH6,CLIP3,SDHAF1,SYNE4,THAP8 chr19 36458840 36531984 Gain and loss Pancreatic cancer SNP array 17952125 ALKBH6,CLIP3,SDHAF1,SYNE4,THAP8 chr19 36474471 36474506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 36492630 36492688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 36572261 37135796 LOH Normal High-resolution SNP genotyping 21211785 CAPNS1,COX7A1,LINC00665,LOC100134317,LOC644189,LOC728752,OVOL3,POLR2I,TBCB,WDR62,ZFP14,ZFP82,ZNF146,ZNF260,ZNF382,ZNF461,ZNF529,ZNF565,ZNF566 chr19 36582090 37055986 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAPNS1,COX7A1,LINC00665,LOC100134317,LOC644189,LOC728752,OVOL3,POLR2I,TBCB,WDR62,ZFP14,ZFP82,ZNF146,ZNF260,ZNF529,ZNF565,ZNF566 chr19 3659382 3701810 Gain and loss Pancreatic cancer SNP array 17952125 PIP5K1C chr1 93665909 93666030 Gain and loss Pancreatic cancer SNP array 17952125 CCDC18 chr19 3672735 3701807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIP5K1C chr19 3672735 3701807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIP5K1C chr19 36738874 36738999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 367593 411903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2CD4C,THEG chr19 367593 411903 Gain and loss Pancreatic cancer SNP array 17952125 C2CD4C,THEG chr19 367593 411903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD4C,THEG chr1 93686246 93792806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC18,LOC100131564 chr1 93686246 93792806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC18,LOC100131564 chr19 3692729 3692829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIP5K1C chr19 36969894 36969998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF566 chr19 36969894 36969999 Gain and loss Pancreatic cancer SNP array 17952125 ZNF566 chr19 36969894 36970002 Gain and loss Pancreatic cancer SNP array 17952125 ZNF566 chr19 37005651 46612605 Gain Wilms tumour 250K Genotyping Arrays 21544195 ACTN4,ADCK4,AKT2,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCAM,BCKDHA,BCL3,BLOC1S3,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CADM4,CAPN12,CATSPERG,CBLC,CCDC61,CCDC97,CD177,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CKM,CLASRP,CLC,CLPTM1,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMPK,DMRTC2,DMWD,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,EML2,ERCC1,ERCC2,ERF,ETHE1,EXOC3L2,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCGBP,FOSB,FOXA3,GEMIN7,GGN,GIPR,GMFG,GPR4,GRIK5,GSK3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,IGFL4,IGSF23,IL28A,IL28B,IL29,IRF2BP1,IRGC,IRGQ,ITPKC,KCNK6,KCNN4,KLC3,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100507433,LOC100631378,LOC100996307,LOC284344,LOC284412,LOC388553,LOC643669,LOC644554,LRFN1,LTBP4,LYPD3,LYPD4,LYPD5,MAP3K10,MAP4K1,MARK4,MED29,MEGF8,MIA,MIA-RAB4B,MIR330,MIR4323,MIR4530,MIR4531,MIR641,MIR642A,MIR642B,MIR769,MRPS12,MYPOP,NANOS2,NCCRP1,NFKBIB,NKPD1,NOVA2,NUMBL,OPA3,PAF1,PAFAH1B3,PAK4,PAPL,PGLYRP1,PHLDB3,PINLYP,PLAUR,PLD3,PLEKHG2,POU2F2,PPM1N,PPP1R13L,PPP1R14A,PPP1R37,PRG1,PRR19,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RELB,RINL,RPS16,RPS19,RSPH6A,RTN2,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SIX5,SMG9,SNRPA,SNRPD2,SPINT2,SPRED3,SPTBN4,SRRM5,SUPT5H,SYCN,SYMPK,TEX101,TGFB1,TIMM50,TMEM145,TMEM91,TOMM40,TRAPPC6A,TTC9B,VASP,WDR87,XRCC1,YIF1B,ZFP112,ZFP30,ZFP36,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF260,ZNF283,ZNF284,ZNF285,ZNF296,ZNF345,ZNF382,ZNF383,ZNF404,ZNF420,ZNF428,ZNF45,ZNF461,ZNF526,ZNF527,ZNF529,ZNF540,ZNF546,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 3701771 3712673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TJP3 chr19 3701771 3712673 Gain and loss Pancreatic cancer SNP array 17952125 TJP3 chr19 3701771 3712673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TJP3 chr19 37095104 37095196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF529 chr19 37099201 37099301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF382 chr19 37100000 40300000 Deletion Mental retardation References 19951919 ACTN4,C19orf33,CAPN12,CATSPERG,CLC,DLL3,DPF1,ECH1,EID2,EID2B,EIF3K,FAM98C,FBXO17,FBXO27,GGN,GMFG,HKR1,HNRNPL,IL28A,IL28B,IL29,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LOC100129935,LOC100507433,LOC100631378,LOC284412,LOC643669,LOC644554,LRFN1,MAP4K1,MED29,MIR4530,MRPS12,NCCRP1,NFKBIB,PAF1,PAK4,PAPL,PLEKHG2,PPP1R14A,PSMD8,RASGRP4,RINL,RPS16,RYR1,SAMD4B,SARS2,SELV,SIPA1L3,SIRT2,SPINT2,SPRED3,SUPT5H,SYCN,TIMM50,WDR87,YIF1B,ZFP30,ZFP36,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF527,ZNF540,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 37100000 40300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTN4,C19orf33,CAPN12,CATSPERG,CLC,DLL3,DPF1,ECH1,EID2,EID2B,EIF3K,FAM98C,FBXO17,FBXO27,GGN,GMFG,HKR1,HNRNPL,IL28A,IL28B,IL29,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LOC100129935,LOC100507433,LOC100631378,LOC284412,LOC643669,LOC644554,LRFN1,MAP4K1,MED29,MIR4530,MRPS12,NCCRP1,NFKBIB,PAF1,PAK4,PAPL,PLEKHG2,PPP1R14A,PSMD8,RASGRP4,RINL,RPS16,RYR1,SAMD4B,SARS2,SELV,SIPA1L3,SIRT2,SPINT2,SPRED3,SUPT5H,SYCN,TIMM50,WDR87,YIF1B,ZFP30,ZFP36,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF527,ZNF540,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 37100000 40300000 Loss Breast cancer aCGH 21045282 ACTN4,C19orf33,CAPN12,CATSPERG,CLC,DLL3,DPF1,ECH1,EID2,EID2B,EIF3K,FAM98C,FBXO17,FBXO27,GGN,GMFG,HKR1,HNRNPL,IL28A,IL28B,IL29,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LOC100129935,LOC100507433,LOC100631378,LOC284412,LOC643669,LOC644554,LRFN1,MAP4K1,MED29,MIR4530,MRPS12,NCCRP1,NFKBIB,PAF1,PAK4,PAPL,PLEKHG2,PPP1R14A,PSMD8,RASGRP4,RINL,RPS16,RYR1,SAMD4B,SARS2,SELV,SIPA1L3,SIRT2,SPINT2,SPRED3,SUPT5H,SYCN,TIMM50,WDR87,YIF1B,ZFP30,ZFP36,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF527,ZNF540,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF607,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 37100000 43400000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100507433,LOC100631378,LOC100996307,LOC284412,LOC643669,LOC644554,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,WDR87,YIF1B,ZFP30,ZFP36,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF526,ZNF527,ZNF540,ZNF546,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF585A,ZNF585B,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 37100000 43400000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100507433,LOC100631378,LOC100996307,LOC284412,LOC643669,LOC644554,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,WDR87,YIF1B,ZFP30,ZFP36,ZNF345,ZNF382,ZNF383,ZNF420,ZNF461,ZNF526,ZNF527,ZNF540,ZNF546,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF585A,ZNF585B,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 37100000 47800000 Gain Malignant fibrous histiocytomas aCGH 21085701 ACTN4,ADCK4,AKT2,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BBC3,BCAM,BCKDHA,BCL3,BLOC1S3,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CADM4,CALM3,CAPN12,CATSPERG,CBLC,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CKM,CLASRP,CLC,CLPTM1,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DACT3,DACT3-AS1,DEDD2,DKFZp434J0226,DLL3,DMPK,DMRTC2,DMWD,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,EML2,ERCC1,ERCC2,ERF,ETHE1,EXOC3L2,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCGBP,FKRP,FOSB,FOXA3,GEMIN7,GGN,GIPR,GMFG,GNG8,GPR4,GRIK5,GSK3A,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IL28A,IL28B,IL29,IRF2BP1,IRGC,IRGQ,ITPKC,KCNK6,KCNN4,KLC3,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100507433,LOC100631378,LOC100996307,LOC284344,LOC284412,LOC388553,LOC643669,LOC644554,LRFN1,LTBP4,LYPD3,LYPD4,LYPD5,MAP3K10,MAP4K1,MARK4,MED29,MEGF8,MIA,MIA-RAB4B,MIR3190,MIR3191,MIR320E,MIR330,MIR4323,MIR4530,MIR4531,MIR641,MIR642A,MIR642B,MIR769,MRPS12,MYPOP,NANOS2,NCCRP1,NFKBIB,NKPD1,NOVA2,NPAS1,NUMBL,OPA3,PAF1,PAFAH1B3,PAK4,PAPL,PGLYRP1,PHLDB3,PINLYP,PLAUR,PLD3,PLEKHG2,PNMAL1,PNMAL2,POU2F2,PPM1N,PPP1R13L,PPP1R14A,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR19,PRR24,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RELB,RINL,RNU6-66,RPS16,RPS19,RSPH6A,RTN2,RYR1,SAE1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SIX5,SLC1A5,SMG9,SNAR-E,SNRPA,SNRPD2,SPINT2,SPRED3,SPTBN4,SRRM5,STRN4,SUPT5H,SYCN,SYMPK,TEX101,TGFB1,TIMM50,TMEM145,TMEM160,TMEM91,TOMM40,TRAPPC6A,TTC9B,VASP,WDR87,XRCC1,YIF1B,ZC3H4,ZFP112,ZFP30,ZFP36,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF345,ZNF382,ZNF383,ZNF404,ZNF420,ZNF428,ZNF45,ZNF461,ZNF526,ZNF527,ZNF540,ZNF546,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 37100000 50000000 Gain Glioblastoma multiforme aCGH 21080181 ACTN4,ADCK4,AKT2,ALDH16A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL3,BLOC1S3,BLVRB,BSPH1,C19orf33,C19orf47,C19orf54,C19orf69,C19orf73,C5AR1,CA11,CABP5,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD37,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CIC,CKM,CLASRP,CLC,CLPTM1,CNFN,CNTD2,CRX,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DPF1,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EML2,EMP3,ERCC1,ERCC2,ERF,ETHE1,EXOC3L2,EXOSC5,FAM83E,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCGBP,FGF21,FKRP,FLT3LG,FOSB,FOXA3,FTL,FUT1,FUT2,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HRC,HSD17B14,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IL28A,IL28B,IL29,IRF2BP1,IRGC,IRGQ,ITPKC,IZUMO1,KCNA7,KCNJ14,KCNK6,KCNN4,KDELR1,KLC3,KPTN,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LIN7B,LIPE,LMTK3,LOC100129935,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100507433,LOC100631378,LOC100996307,LOC284344,LOC284412,LOC388553,LOC643669,LOC644554,LRFN1,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MED29,MEGF8,MEIS3,MIA,MIA-RAB4B,MIR3190,MIR3191,MIR320E,MIR330,MIR4323,MIR4324,MIR4530,MIR4531,MIR641,MIR642A,MIR642B,MIR769,MRPS12,MYPOP,NANOS2,NAPA,NAPA-AS1,NCCRP1,NFKBIB,NKPD1,NOVA2,NPAS1,NTF4,NTN5,NUCB1,NUMBL,OPA3,PAF1,PAFAH1B3,PAK4,PAPL,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNMAL1,PNMAL2,POU2F2,PPFIA3,PPM1N,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR19,PRR24,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RELB,RINL,RNU6-66,RPL13A,RPL13AP5,RPL18,RPS11,RPS16,RPS19,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SHKBP1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-E,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPINT2,SPRED3,SPTBN4,SRRM5,STRN4,SULT2A1,SULT2B1,SUPT5H,SYCN,SYMPK,SYNGR4,TEAD2,TEX101,TGFB1,TIMM50,TMEM143,TMEM145,TMEM160,TMEM91,TOMM40,TPRX1,TRAPPC6A,TRPM4,TTC9B,TULP2,VASP,WDR87,XRCC1,YIF1B,ZC3H4,ZFP112,ZFP30,ZFP36,ZNF114,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF345,ZNF382,ZNF383,ZNF404,ZNF420,ZNF428,ZNF45,ZNF461,ZNF526,ZNF527,ZNF540,ZNF541,ZNF546,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF790,ZNF790-AS1,ZNF793,ZNF829,ZNF850 chr19 37100000 57600000 Gain Metanephric adenoma Oligo aCGH 20802469 ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf33,C19orf47,C19orf48,C19orf54,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLPTM1,CNFN,CNOT3,CNTD2,COX6B2,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,EXOSC5,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FGF21,FIZ1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPR32,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAS1,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LIPE,LMTK3,LOC100128252,LOC100129083,LOC100129935,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100507433,LOC100631378,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC643669,LOC644554,LRFN1,LRRC4B,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUMBL,NUP62,OPA3,OSCAR,PAF1,PAFAH1B3,PAK4,PAPL,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RCN3,RDH13,RELB,RFPL4A,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SCAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TGFB1,TIMM50,TMC4,TMEM143,TMEM145,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC6A,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,U2AF2,UBE2S,VASP,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR87,XRCC1,YIF1B,ZC3H4,ZFP112,ZFP28,ZFP30,ZFP36,ZIM2,ZNF114,ZNF137P,ZNF155,ZNF160,ZNF175,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF320,ZNF321P,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF420,ZNF428,ZNF432,ZNF444,ZNF45,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF534,ZNF540,ZNF541,ZNF542,ZNF546,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF585A,ZNF585B,ZNF600,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF793,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 37100000 57600000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf33,C19orf47,C19orf48,C19orf54,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLPTM1,CNFN,CNOT3,CNTD2,COX6B2,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,EXOSC5,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FGF21,FIZ1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPR32,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAS1,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LIPE,LMTK3,LOC100128252,LOC100129083,LOC100129935,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100507433,LOC100631378,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC643669,LOC644554,LRFN1,LRRC4B,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUMBL,NUP62,OPA3,OSCAR,PAF1,PAFAH1B3,PAK4,PAPL,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RCN3,RDH13,RELB,RFPL4A,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SCAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TGFB1,TIMM50,TMC4,TMEM143,TMEM145,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC6A,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,U2AF2,UBE2S,VASP,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR87,XRCC1,YIF1B,ZC3H4,ZFP112,ZFP28,ZFP30,ZFP36,ZIM2,ZNF114,ZNF137P,ZNF155,ZNF160,ZNF175,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF320,ZNF321P,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF420,ZNF428,ZNF432,ZNF444,ZNF45,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF534,ZNF540,ZNF541,ZNF542,ZNF546,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF585A,ZNF585B,ZNF600,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF793,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 37100000 63811651 Gain Metanephric adenoma Oligo aCGH 20802469 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf18,C19orf33,C19orf47,C19orf48,C19orf54,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLPTM1,CNFN,CNOT3,CNTD2,COX6B2,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,EXOSC5,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPR32,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAS1,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100129935,LOC100131691,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100507433,LOC100631378,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC643669,LOC644554,LOC646862,LRFN1,LRRC4B,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUMBL,NUP62,OPA3,OSCAR,PAF1,PAFAH1B3,PAK4,PAPL,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RCN3,RDH13,RELB,RFPL4A,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SCAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TGFB1,TIMM50,TMC4,TMEM143,TMEM145,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR87,XRCC1,YIF1B,ZBTB45,ZC3H4,ZFP112,ZFP28,ZFP30,ZFP36,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF530,ZNF534,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 37100000 63811651 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf18,C19orf33,C19orf47,C19orf48,C19orf54,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLPTM1,CNFN,CNOT3,CNTD2,COX6B2,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,EXOSC5,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPR32,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAS1,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100129935,LOC100131691,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100507433,LOC100631378,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC643669,LOC644554,LOC646862,LRFN1,LRRC4B,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUMBL,NUP62,OPA3,OSCAR,PAF1,PAFAH1B3,PAK4,PAPL,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RCN3,RDH13,RELB,RFPL4A,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SCAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TGFB1,TIMM50,TMC4,TMEM143,TMEM145,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR87,XRCC1,YIF1B,ZBTB45,ZC3H4,ZFP112,ZFP28,ZFP30,ZFP36,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF345,ZNF347,ZNF350,ZNF382,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF461,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF530,ZNF534,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF790,ZNF790-AS1,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF829,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF850,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 37109319 37109434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF382 chr19 3713665 3718562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TJP3 chr19 3713665 3718562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TJP3 chr19 3713672 3718562 Gain and loss Pancreatic cancer SNP array 17952125 TJP3 chr19 3720096 3723217 Gain and loss Pancreatic cancer SNP array 17952125 TJP3 chr19 37245963 37251182 Gain or loss Breast cancer - 20668451 ZNF850 chr19 37245963 37251182 Gain or loss Cancer - 20668451 ZNF850 chr19 37245963 37251182 Gain or loss Lung cancer - 20668451 ZNF850 chr19 37245963 37251182 Gain or loss Ovarian cancer - 20668451 ZNF850 chr19 37245963 37251182 Gain or loss Pancreas cancer - 20668451 ZNF850 chr19 37245963 37251182 Gain or loss Prostate cancer - 20668451 ZNF850 chr1 93726478 93726597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC18 chr19 3728968 3740345 Gain and loss Pancreatic cancer SNP array 17952125 TJP3 chr19 3728968 3752810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APBA3,TJP3 chr19 3728968 3752810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APBA3,TJP3 chr19 37301420 37301472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF790-AS1 chr19 3730730 3730778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TJP3 chr19 37340690 37340790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF790 chr19 373753 378118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THEG chr19 373753 378118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THEG chr1 93739372 94024727 Gain and loss Pancreatic cancer SNP array 17952125 CCDC18,DR1,FNBP1L,LOC100131564 chr19 37426709 37426819 Gain and loss Pancreatic cancer SNP array 17952125 ZNF568 chr19 37426711 37426829 Gain and loss Pancreatic cancer SNP array 17952125 ZNF568 chr19 37426711 37426829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF568 chr19 37468134 37468234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF568 chr19 37482371 63560213 Loss Prostate cancer Array CGH 18632612 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf18,C19orf33,C19orf47,C19orf48,C19orf54,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLPTM1,CNFN,CNOT3,CNTD2,COX6B2,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,EXOSC5,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPR32,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAS1,HIF3A,HIPK4,HKR1,HNRNPL,HNRNPUL1,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100129935,LOC100131691,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100507433,LOC100631378,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC284412,LOC388553,LOC643669,LOC644554,LOC646862,LRFN1,LRRC4B,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUMBL,NUP62,OPA3,OSCAR,PAF1,PAFAH1B3,PAK4,PAPL,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RCN3,RDH13,RELB,RFPL4A,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SCAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TGFB1,TIMM50,TMC4,TMEM143,TMEM145,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR87,XRCC1,YIF1B,ZBTB45,ZC3H4,ZFP112,ZFP28,ZFP30,ZFP36,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF383,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF420,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF530,ZNF534,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF585A,ZNF585B,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 37496947 37497051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 37528393 37570411 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF420 chr19 37528393 37570411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF420 chr19 37528393 37570411 Gain and loss Pancreatic cancer SNP array 17952125 ZNF420 chr19 37528393 37570411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF420 chr19 37529996 37542468 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 3755022 3785924 Gain and loss Pancreatic cancer SNP array 17952125 APBA3,MATK,MRPL54,RAX2 chr19 3755022 3820027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APBA3,MATK,MRPL54,RAX2,ZFR2 chr19 3755022 3820027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APBA3,MATK,MRPL54,RAX2,ZFR2 chr19 37556405 37946718 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HKR1,LOC284412,ZNF383,ZNF420,ZNF527,ZNF569,ZNF585A,ZNF585B chr19 3755862 3755979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APBA3 chr19 37569382 37620662 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF420 chr19 37588520 37668635 Gain and loss Pancreatic cancer SNP array 17952125 ZNF420,ZNF585A chr19 37588536 37667076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF420,ZNF585A chr19 37588536 37667076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF420,ZNF585A chr19 37588536 37667076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF420,ZNF585A chr19 37716000 41040000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 ACTN4,AKT2,BLVRB,C19orf33,C19orf47,CAPN12,CATSPERG,CLC,CNTD2,DLL3,DPF1,DYRK1B,ECH1,EID2,EID2B,EIF3K,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,HIPK4,HKR1,HNRNPL,IL28A,IL28B,IL29,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LOC100129935,LOC100507433,LOC100631378,LOC284412,LOC643669,LOC644554,LRFN1,MAP3K10,MAP4K1,MED29,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,PAF1,PAK4,PAPL,PLD3,PLEKHG2,PPP1R14A,PRX,PSMC4,PSMD8,RASGRP4,RINL,RPS16,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SIPA1L3,SIRT2,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TIMM50,TTC9B,WDR87,YIF1B,ZFP30,ZFP36,ZNF383,ZNF527,ZNF540,ZNF546,ZNF569,ZNF570,ZNF571,ZNF573,ZNF607,ZNF780A,ZNF780B,ZNF781,ZNF793 chr19 3771813 3771962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAX2 chr19 3771866 3772040 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAX2 chr19 37740368 38327063 LOH Normal High-resolution SNP genotyping 21211785 HKR1,LOC100507433,LOC100631378,LOC284412,LOC644554,ZFP30,ZNF527,ZNF540,ZNF569,ZNF570,ZNF571,ZNF573,ZNF607,ZNF781,ZNF793 chr19 37746583 38337151 LOH Normal High-resolution SNP genotyping 21211785 HKR1,LOC100507433,LOC100631378,LOC284412,LOC644554,ZFP30,ZNF527,ZNF540,ZNF569,ZNF570,ZNF571,ZNF573,ZNF607,ZNF781,ZNF793 chr19 37763944 37770162 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 37763944 37770162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 37763944 37770162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 37763944 37770162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 37779747 37857942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HKR1 chr19 37779747 37857942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKR1 chr19 37779747 37857945 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HKR1 chr19 37779754 37857945 Gain and loss Pancreatic cancer SNP array 17952125 HKR1 chr19 37779935 37781120 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr1 9377841 9377916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPSB1 chr19 37785001 38356000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HKR1,LOC100507433,LOC100631378,LOC644554,ZFP30,ZNF527,ZNF540,ZNF569,ZNF570,ZNF571,ZNF573,ZNF607,ZNF781,ZNF793 chr19 37791083 37791215 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 37791083 37791215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 37791084 37791211 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 93783342 93783442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100131564 chr19 37837423 37837691 Gain and loss Pancreatic cancer SNP array 17952125 HKR1 chr19 37837423 37837691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKR1 chr19 37837760 37838054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKR1 chr19 37837829 37838054 Gain and loss Pancreatic cancer SNP array 17952125 HKR1 chr19 37837829 37838054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HKR1 chr19 37856935 63485510 Gain Bladder cancer array-CGH 21909424 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf18,C19orf33,C19orf47,C19orf48,C19orf54,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLPTM1,CNFN,CNOT3,CNTD2,COX6B2,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,EXOSC5,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPR32,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAS1,HIF3A,HIPK4,HNRNPL,HNRNPUL1,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100129935,LOC100131691,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100507433,LOC100631378,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC388553,LOC643669,LOC644554,LOC646862,LRFN1,LRRC4B,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUMBL,NUP62,OPA3,OSCAR,PAF1,PAFAH1B3,PAK4,PAPL,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RCN3,RDH13,RELB,RFPL4A,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SCAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TGFB1,TIMM50,TMC4,TMEM143,TMEM145,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR87,XRCC1,YIF1B,ZBTB45,ZC3H4,ZFP112,ZFP28,ZFP30,ZFP36,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF526,ZNF527,ZNF528,ZNF530,ZNF534,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF793,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 37858153 37861034 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 37858153 37861046 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 37858153 37861046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 37858153 37861046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 37874707 37894703 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF527 chr19 37874707 37896541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF527 chr19 37874707 37896541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF527 chr19 3788432 3788732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MATK chr19 37902499 37998367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF569,ZNF570,ZNF793 chr19 37902519 37998370 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF569,ZNF570,ZNF793 chr19 37902519 38004006 Gain and loss Pancreatic cancer SNP array 17952125 ZNF569,ZNF570,ZNF793 chr19 37985807 38074404 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC100507433,ZNF540,ZNF571,ZNF793 chr1 93799936 94085294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAR3,DR1,FNBP1L,LOC100129046,LOC100131564 chr1 93799936 94085294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3,DR1,FNBP1L,LOC100129046,LOC100131564 chr19 38013258 38052523 Rearrangement Cystinuria MLPA 21255007 LOC100507433,ZNF540,ZNF793 chr19 38013262 38052512 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100507433,ZNF540,ZNF793 chr19 38013262 38052512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507433,ZNF540,ZNF793 chr19 38013262 38052512 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507433,ZNF540,ZNF793 chr19 38013262 38052512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507433,ZNF540,ZNF793 chr19 38031269 38031461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF793 chr19 38045516 38045838 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507433,ZNF540 chr19 38045533 38045838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507433,ZNF540 chr19 38045600 38045838 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507433,ZNF540 chr19 38061746 38154709 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507433,ZFP30,ZNF540,ZNF571 chr19 38061748 38154709 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100507433,ZFP30,ZNF540,ZNF571 chr19 38061748 38154709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507433,ZFP30,ZNF540,ZNF571 chr19 38061748 38154709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507433,ZFP30,ZNF540,ZNF571 chr19 38061790 38154709 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 LOC100507433,ZFP30,ZNF540,ZNF571 chr19 38091322 59128983 Gain Medulloblastoma array-CGH 16783165 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf18,C19orf33,C19orf47,C19orf48,C19orf54,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLPTM1,CNFN,CNOT3,CNTD2,COX6B2,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DNAAF3,DPF1,DPRX,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,EXOSC5,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPR32,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAS1,HIF3A,HIPK4,HNRNPL,HNRNPUL1,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNK6,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100129935,LOC100131691,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100631378,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC388553,LOC643669,LOC644554,LOC646862,LRFN1,LRRC4B,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUMBL,NUP62,OPA3,OSCAR,PAF1,PAFAH1B3,PAK4,PAPL,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RCN3,RDH13,RELB,RFPL4A,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SCAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIPA1L3,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPINT2,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TGFB1,TIMM50,TMC4,TMEM143,TMEM145,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,WDR87,XRCC1,YIF1B,ZBTB45,ZC3H4,ZFP112,ZFP28,ZFP30,ZFP36,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF526,ZNF528,ZNF530,ZNF534,ZNF540,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF573,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF607,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF781,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 38121904 38122004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 38151657 38154354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 38154996 38160968 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF781 chr19 38154996 38160968 Gain and loss Pancreatic cancer SNP array 17952125 ZNF781 chr19 38155018 38159786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF781 chr19 38155018 38159786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF781 chr19 38159097 38159860 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNF781 chr19 38161339 38247634 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF573,ZNF607,ZNF781 chr19 38161339 38247634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF573,ZNF607,ZNF781 chr19 38161339 38247634 Gain and loss Pancreatic cancer SNP array 17952125 ZNF573,ZNF607,ZNF781 chr19 38161339 38247634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF573,ZNF607,ZNF781 chr19 38161367 38173389 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF781 chr19 3817387 3817447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFR2 chr19 381805 395497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 38208173 38252882 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF573,ZNF607 chr19 3821793 3822718 Gain and loss Pancreatic cancer SNP array 17952125 ZFR2 chr19 3821988 3823111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFR2 chr19 38234149 38234218 Gain and loss Pancreatic cancer SNP array 17952125 ZNF573 chr19 38234149 38234218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF573 chr19 38263626 38313158 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC644554,ZNF573 chr19 38263626 38313158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC644554,ZNF573 chr19 38263626 38313158 Gain and loss Pancreatic cancer SNP array 17952125 LOC644554,ZNF573 chr19 38263626 38313158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC644554,ZNF573 chr19 38264621 38264876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF573 chr19 38314838 38358541 Gain and loss Pancreatic cancer SNP array 17952125 LOC100631378,LOC644554 chr19 38314838 38358545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100631378,LOC644554 chr19 38314838 38358545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100631378,LOC644554 chr19 38314838 38358545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100631378,LOC644554 chr19 3831639 3873184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFR2 chr19 3831672 3877004 Gain and loss Pancreatic cancer SNP array 17952125 ZFR2 chr19 383183 385196 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 383270 383322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 38337377 38363464 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC100631378 chr1 93834045 94846209 LOH Normal High-resolution SNP genotyping 21211785 ABCA4,ARHGAP29,BCAR3,DNTTIP2,FNBP1L,GCLM,LOC100129046,MIR760 chr19 38343716 38344508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100631378 chr19 38344512 38344612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100631378 chr19 38346888 38355224 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr19 38350000 39890000 Gain Breast cancer aCGH 21509527 ACTN4,C19orf33,CAPN12,CATSPERG,DPF1,ECH1,EIF3K,FAM98C,FBXO17,FBXO27,GGN,GMFG,HNRNPL,IL28A,IL28B,IL29,KCNK6,LGALS4,LGALS7,LGALS7B,LOC643669,LRFN1,MAP4K1,MED29,MRPS12,NCCRP1,NFKBIB,PAF1,PAK4,PAPL,PPP1R14A,PSMD8,RASGRP4,RINL,RYR1,SAMD4B,SARS2,SIPA1L3,SIRT2,SPINT2,SPRED3,SYCN,WDR87,YIF1B chr19 38353210 38353294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 38356001 38377500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDR87 chr19 38356702 38356780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 38357816 38357941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 38377330 38390383 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WDR87 chr19 38377330 38390383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR87 chr19 38377330 38390383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR87 chr19 38377388 38390383 Gain and loss Pancreatic cancer SNP array 17952125 WDR87 chr19 38377501 38486500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SIPA1L3,WDR87 chr19 38391410 38408596 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SIPA1L3,WDR87 chr19 38391410 38408596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L3,WDR87 chr19 38391410 38408596 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1L3,WDR87 chr19 38391410 38408596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L3,WDR87 chr1 9384001 9572000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPSB1 chr19 3841641 7066573 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ACER1,ACSBG2,ALKBH7,ANKRD24,ARRDC5,ATCAY,C19orf10,C19orf70,C3,CAPS,CATSPERD,CCDC94,CD70,CHAF1A,CLPP,CRB3,CREB3L3,DAPK3,DENND1C,DPP9,DUS3L,EBI3,EEF2,EMR1,EMR4P,FEM1A,FLJ25758,FSD1,FUT3,FUT5,FUT6,GPR108,GTF2F1,HDGFRP2,HSD11B1L,KDM4B,KHSRP,LOC100128568,LOC100131094,LONP1,LRG1,MAP2K2,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MIR3940,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MLLT1,MPND,NDUFA11,NMRK2,NRTN,PIAS4,PLAC2,PLIN3,PLIN4,PLIN5,PRR22,PSPN,PTPRS,RANBP3,RFX2,RPL36,SAFB,SAFB2,SEMA6B,SH2D3A,SH3GL1,SHD,SIRT6,SLC25A23,SLC25A41,SNORD37,STAP2,TICAM1,TMIGD2,TNFAIP8L1,TNFSF14,TNFSF9,TRIP10,TUBB4A,UBXN6,UHRF1,VAV1,VMAC,ZBTB7A,ZFR2,ZNRF4 chr19 38423866 38423966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1L3 chr19 38427720 38444834 Deletion Attention deficit hyperactivity disorder - 22138692 SIPA1L3 chr19 38432900 38433168 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 SIPA1L3 chr19 38468914 39273401 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACTN4,C19orf33,CAPN12,CATSPERG,DPF1,EIF3K,FAM98C,GGN,KCNK6,LGALS7,MAP4K1,PPP1R14A,PSMD8,RASGRP4,RYR1,SIPA1L3,SPINT2,SPRED3,YIF1B chr19 38473374 38495178 Copy number Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 SIPA1L3 chr19 38473374 38495178 Loss Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 SIPA1L3 chr19 38477685 38496328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIPA1L3 chr19 38482543 38485460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L3 chr19 38482543 38485460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L3 chr19 38482770 38485310 Amplification or deletion Cancer Array CGH 17440070 SIPA1L3 chr19 38482775 38485160 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SIPA1L3 chr19 38484084 38485044 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1L3 chr19 38485602 38487802 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SIPA1L3 chr19 38485617 38487802 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1L3 chr19 38485902 38486371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L3 chr1 93849294 93849394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 38518990 38519090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1L3 chr19 38546281 38546381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1L3 chr19 38552698 38678914 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 SIPA1L3 chr19 38555334 38555645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SIPA1L3 chr19 38556448 38565432 Copy number Gastric cancer Human cDNA microarrays 17229543 SIPA1L3 chr19 38556448 38565432 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 SIPA1L3 chr19 38556449 38565431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SIPA1L3 chr19 38556449 38565431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L3 chr19 38556449 38565431 Gain and loss Pancreatic cancer SNP array 17952125 SIPA1L3 chr19 38556449 38565431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIPA1L3 chr19 38569699 38704522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DPF1,SIPA1L3 chr19 38569705 38704540 Gain and loss Pancreatic cancer SNP array 17952125 DPF1,SIPA1L3 chr19 38569705 38704641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPF1,SIPA1L3 chr19 38569705 38704641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPF1,SIPA1L3 chr19 38569954 38594491 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 SIPA1L3 chr19 38570001 38601500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SIPA1L3 chr19 38601501 38956500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C19orf33,CATSPERG,DPF1,FAM98C,GGN,KCNK6,PPP1R14A,PSMD8,RASGRP4,RYR1,SIPA1L3,SPINT2,SPRED3,YIF1B chr19 38641535 38641576 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 SIPA1L3 chr19 38687063 38687155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1L3 chr19 38693781 38693861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIPA1L3 chr19 38700000 43400000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LOC643669,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,YIF1B,ZFP36,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr19 38700000 43400000 Deletion Hepatocellular carcinoma Array CGH 16750200 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LOC643669,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,YIF1B,ZFP36,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr19 38700000 43400000 Gain and amplification Multiple myeloma Array CGH 16616336 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LOC643669,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,YIF1B,ZFP36,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr19 38700000 43400000 Gain Basal cell lymphoma Array CGH 19029149 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LOC643669,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,YIF1B,ZFP36,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr19 38700000 43400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LOC643669,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,YIF1B,ZFP36,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr19 38700000 43400000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LOC643669,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,YIF1B,ZFP36,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr19 38700000 43400000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ACTN4,ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf33,C19orf47,C19orf54,C19orf69,CAPN12,CATSPERG,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DLL3,DMRTC2,DPF1,DYRK1B,ECH1,EGLN2,EID2,EID2B,EIF3K,ERF,EXOSC5,FAM98C,FBL,FBXO17,FBXO27,FCGBP,GGN,GMFG,GRIK5,GSK3A,HIPK4,HNRNPL,HNRNPUL1,IL28A,IL28B,IL29,ITPKC,KCNK6,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LIPE,LOC100129935,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LOC643669,LRFN1,LTBP4,LYPD4,MAP3K10,MAP4K1,MED29,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4530,MIR641,MRPS12,NCCRP1,NFKBIB,NUMBL,PAF1,PAFAH1B3,PAK4,PAPL,PLD3,PLEKHG2,POU2F2,PPP1R14A,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,PSMD8,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RINL,RPS16,RPS19,RYR1,SAMD4B,SARS2,SELV,SERTAD1,SERTAD3,SHKBP1,SIRT2,SNRPA,SPINT2,SPRED3,SPTBN4,SUPT5H,SYCN,TGFB1,TIMM50,TMEM145,TMEM91,TTC9B,YIF1B,ZFP36,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr1 938709 939782 Copy number Gastric cancer Human cDNA microarrays 17229543 NOT_FOUND chr19 38712966 38713041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPF1 chr19 38713594 38713694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPF1 chr19 38742114 38742188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R14A chr1 938742 939782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 938742 939782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 38747398 38757673 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SPINT2 chr19 387661 387777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 38771952 38772434 Gain and loss Pancreatic cancer SNP array 17952125 SPINT2 chr19 38803505 38803600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YIF1B chr19 38804717 38956248 Gain and loss Pancreatic cancer SNP array 17952125 CATSPERG,FAM98C,GGN,KCNK6,PSMD8,RASGRP4,RYR1,SPRED3,YIF1B chr19 38813241 38813396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNK6 chr19 3884101 3893412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATCAY chr19 3884101 3893412 Gain and loss Pancreatic cancer SNP array 17952125 ATCAY chr19 3884101 3893412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATCAY chr19 38854000 63785000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 A1BG,A1BG-AS1,ACPT,ACTN4,ADCK4,AKT1S1,AKT2,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ASPDH,ATF5,ATP1A3,ATP5SL,AURKC,AXL,B3GNT8,B9D2,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BIRC8,BLOC1S3,BLVRB,BRSK1,BSPH1,C19orf18,C19orf47,C19orf48,C19orf54,C19orf69,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CAPN12,CARD8,CATSPERG,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD33,CD37,CD3EAP,CD79A,CDC42EP5,CEACAM1,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CIC,CKM,CLASRP,CLC,CLDND2,CLEC11A,CLPTM1,CNFN,CNOT3,CNTD2,COX6B2,CPT1C,CRX,CTU1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYTH2,DACT3,DACT3-AS1,DBP,DEDD2,DHDH,DHX34,DKFZp434J0226,DKKL1,DLL3,DMPK,DMRTC2,DMWD,DNAAF3,DPRX,DUXA,DYRK1B,ECH1,EGLN2,EHD2,EID2,EID2B,EIF3K,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERF,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,EXOSC5,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FAM98C,FBL,FBXO17,FBXO27,FBXO46,FCAR,FCGBP,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GGN,GIPR,GLTSCR1,GLTSCR2,GMFG,GNG8,GP6,GPR32,GPR4,GPR77,GRIK5,GRIN2D,GRWD1,GSK3A,GYS1,HAS1,HIF3A,HIPK4,HNRNPL,HNRNPUL1,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL28A,IL28B,IL29,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,ITPKC,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LIPE,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100129935,LOC100131691,LOC100287177,LOC100287534,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100507003,LOC100996307,LOC147646,LOC147670,LOC284344,LOC284379,LOC388553,LOC643669,LOC646862,LRFN1,LRRC4B,LTBP4,LYPD3,LYPD4,LYPD5,MAMSTR,MAP3K10,MAP4K1,MARK4,MBOAT7,MED25,MED29,MEGF8,MEIS3,MGC2752,MGC45922,MIA,MIA-RAB4B,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4323,MIR4324,MIR4530,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR641,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MRPS12,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCCRP1,NCR1,NDUFA3,NFKBIB,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUMBL,NUP62,OPA3,OSCAR,PAF1,PAFAH1B3,PAK4,PAPL,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLD3,PLEKHA4,PLEKHG2,PNKP,PNMAL1,PNMAL2,POLD1,POU2F2,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR19,PRR24,PRRG2,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RASGRP4,RASIP1,RCN3,RDH13,RELB,RFPL4A,RINL,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS16,RPS19,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,RYR1,SAE1,SAMD4B,SARS2,SBK2,SCAF1,SEC1P,SELV,SEPW1,SERTAD1,SERTAD3,SGK110,SHANK1,SHISA7,SHKBP1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIRT2,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPA,SNRPD2,SPACA4,SPHK2,SPIB,SPRED3,SPTBN4,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUPT5H,SUV420H2,SYCN,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TGFB1,TIMM50,TMC4,TMEM143,TMEM145,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TMEM91,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTC9B,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,XRCC1,ZBTB45,ZC3H4,ZFP112,ZFP28,ZFP36,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF526,ZNF528,ZNF530,ZNF534,ZNF541,ZNF542,ZNF543,ZNF544,ZNF546,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF574,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF780A,ZNF780B,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 38867273 38956254 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM98C,GGN,PSMD8,RASGRP4,RYR1,SPRED3 chr19 38867274 38956253 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM98C,GGN,PSMD8,RASGRP4,RYR1,SPRED3 chr19 38867274 38956253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM98C,GGN,PSMD8,RASGRP4,RYR1,SPRED3 chr19 38867274 38956253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM98C,GGN,PSMD8,RASGRP4,RYR1,SPRED3 chr19 38902026 38902093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASGRP4 chr19 38923549 39375875 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTN4,CAPN12,ECH1,EIF3K,HNRNPL,LGALS4,LGALS7,LGALS7B,MAP4K1,RINL,RYR1,SIRT2 chr19 38951636 38959616 Loss Normal 244K array 17666407 RYR1 chr19 38956501 38961500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RYR1 chr19 38961501 38984000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RYR1 chr19 38979607 38996984 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RYR1 chr19 38979607 38996984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RYR1 chr19 38979607 38996984 Gain and loss Pancreatic cancer SNP array 17952125 RYR1 chr19 38979607 38996984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RYR1 chr19 38984001 38989500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RYR1 chr19 38987055 39019246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RYR1 chr19 38989501 39004000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RYR1 chr19 39008208 39008415 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RYR1 chr19 39076862 39076924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYR1 chr19 3909452 3920826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATCAY chr19 3909452 3920826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATCAY chr19 3909454 3922038 Gain and loss Pancreatic cancer SNP array 17952125 ATCAY chr19 39110122 39110370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3K chr19 39110149 39110370 Gain and loss Pancreatic cancer SNP array 17952125 EIF3K chr19 39110149 39110370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3K chr19 3912412 3912510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATCAY chr19 39137238 39164530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACTN4 chr19 39138266 39221171 Amplification Ovarian cancer FISH 19151661 ACTN4,CAPN12 chr19 39146578 39146678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTN4 chr19 39199544 39199619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTN4 chr19 39202930 39203030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTN4 chr19 39205403 39276055 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACTN4,CAPN12,LGALS7 chr19 39205403 39276055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTN4,CAPN12,LGALS7 chr19 3924264 3925945 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ATCAY chr19 3927055 3936446 Gain and loss Pancreatic cancer SNP array 17952125 ATCAY,NMRK2 chr19 3927055 3936461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATCAY,NMRK2 chr19 3927055 3936461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATCAY,NMRK2 chr19 39275291 39276055 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 39291516 39291600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 3929492 3954200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NMRK2 chr19 39307285 39307385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ECH1 chr19 39309787 39310156 Gain and loss Pancreatic cancer SNP array 17952125 ECH1 chr19 3933505 3933570 Gain and loss Pancreatic cancer SNP array 17952125 NMRK2 chr19 3933505 3933570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMRK2 chr19 3934631 3950322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NMRK2 chr19 39355265 39355508 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 39355283 39412048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC643669,NFKBIB,RINL,SARS2,SIRT2 chr19 39355283 39412048 Gain and loss Pancreatic cancer SNP array 17952125 LOC643669,NFKBIB,RINL,SARS2,SIRT2 chr19 39355283 39412048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC643669,NFKBIB,RINL,SARS2,SIRT2 chr19 39355311 39412048 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC643669,NFKBIB,RINL,SARS2,SIRT2 chr19 39400857 39404541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC643669 chr19 39417701 39423800 Deletion Glioma mate-paired sequence 20126413 MRPS12,SARS2 chr19 39419237 39422624 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MRPS12,SARS2 chr19 39420000 40350000 Gain Ductal carcinoma SNP array 22052326 CLC,DLL3,DYRK1B,EID2,EID2B,FBL,FBXO17,FBXO27,GMFG,IL28A,IL28B,IL29,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LOC100129935,LRFN1,MED29,MIR4530,MRPS12,NCCRP1,PAF1,PAK4,PAPL,PLEKHG2,RPS16,SAMD4B,SARS2,SELV,SUPT5H,SYCN,TIMM50,ZFP36 chr19 39422052 39440795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO17,MRPS12 chr19 39422156 39434971 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO17,MRPS12 chr19 39423001 39435086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO17,MRPS12 chr19 39424479 39444072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO17 chr19 39426295 39434653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO17 chr19 39427122 39435844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO17 chr19 39427561 39451984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO17 chr19 39427985 39429303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 39437296 39538311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO17,FBXO27 chr19 39437296 39538311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO17,FBXO27 chr19 39437317 39538307 Gain and loss Pancreatic cancer SNP array 17952125 FBXO17,FBXO27 chr19 3945545 3945871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 39459123 39461189 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FBXO17 chr19 39479021 39479482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 39479021 39479482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 39482421 39538304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FBXO27 chr19 39547727 39583076 Gain and loss Pancreatic cancer SNP array 17952125 PAPL chr19 39547909 39583076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAPL chr19 39547909 39583076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPL chr19 39547909 39583076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPL chr1 93955135 93955235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNBP1L chr19 3956349 4110435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DAPK3,EEF2,MAP2K2,MIR637,PIAS4,SNORD37,ZBTB7A chr19 39587143 39608910 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAPL chr19 39587143 39608910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPL chr19 39587143 39608910 Gain and loss Pancreatic cancer SNP array 17952125 PAPL chr19 39587143 39608910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPL chr19 3958748 3989067 Gain or loss Breast cancer - 20668451 DAPK3,EEF2,MIR637,SNORD37 chr19 3958748 3989067 Gain or loss Cancer - 20668451 DAPK3,EEF2,MIR637,SNORD37 chr19 3958748 3989067 Gain or loss Lung cancer - 20668451 DAPK3,EEF2,MIR637,SNORD37 chr19 3958748 3989067 Gain or loss Ovarian cancer - 20668451 DAPK3,EEF2,MIR637,SNORD37 chr19 3958748 3989067 Gain or loss Pancreas cancer - 20668451 DAPK3,EEF2,MIR637,SNORD37 chr19 3958748 3989067 Gain or loss Prostate cancer - 20668451 DAPK3,EEF2,MIR637,SNORD37 chr19 3958748 3990383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAPK3,EEF2,MIR637,SNORD37 chr19 3958748 3990383 Gain and loss Pancreatic cancer SNP array 17952125 DAPK3,EEF2,MIR637,SNORD37 chr19 3958748 3990383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAPK3,EEF2,MIR637,SNORD37 chr1 93959777 94004929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FNBP1L chr19 39611108 39652635 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAK4 chr19 39611108 39652635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAK4 chr19 39611108 39652635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAK4 chr19 39611108 39652637 Gain and loss Pancreatic cancer SNP array 17952125 PAK4 chr19 39611147 39652626 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 PAK4 chr19 39625701 39659348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAK4 chr1 93965186 93965286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNBP1L chr19 39663001 39697000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCCRP1,PAK4,SYCN chr19 39664720 39683914 Gain and loss Pancreatic cancer SNP array 17952125 PAK4 chr19 39664720 39683925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAK4 chr19 39664720 39683925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAK4 chr19 39665173 39683914 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAK4 chr19 39673061 39688391 Copy number Lung cancer paired-end sequencing 18438408 NCCRP1 chr19 39704456 40149814 Copy number Lung cancer paired-end sequencing 18438408 DLL3,EID2,EID2B,GMFG,IL28A,IL28B,IL29,LGALS13,LGALS16,LOC100129935,LRFN1,MED29,MIR4530,PAF1,PLEKHG2,RPS16,SAMD4B,SELV,SUPT5H,TIMM50,ZFP36 chr19 39725282 39820259 Gain and loss Pancreatic cancer SNP array 17952125 GMFG,IL28A,IL28B,IL29,LRFN1 chr19 39738970 39739036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 39743533 39743641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 39760001 39763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IL28A chr19 39761151 39779622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 39763001 39778500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 39776187 39779341 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 39776187 39779341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 39776187 39779341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 39778501 39782000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 39782346 39782420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 39817858 39984175 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GMFG,MED29,MIR4530,PAF1,PLEKHG2,RPS16,SAMD4B,SUPT5H,TIMM50,ZFP36 chr19 39828001 39830000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 39828125 39829583 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 39832513 39846662 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 SAMD4B chr19 39832513 39846662 Total allelic loss Normal High-resolution SNP genotyping 21211785 SAMD4B chr19 39835983 39838570 Gain Normal Birdsuite, version 1.5.2 22087296 SAMD4B chr19 39843824 39843924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAMD4B chr19 39847001 39851500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SAMD4B chr19 39860407 39869139 Gain and loss Pancreatic cancer SNP array 17952125 SAMD4B chr19 39862841 39917372 Gain Normal Birdsuite, version 1.5.2 22087296 MED29,MIR4530,PAF1,PLEKHG2,SAMD4B,ZFP36 chr19 39865513 39867982 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SAMD4B chr19 39865513 39867982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMD4B chr19 39877606 39877690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAF1 chr19 39905169 39905269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG2 chr19 39914001 39917000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHG2 chr19 39916933 39925612 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLEKHG2,RPS16 chr19 39916933 39925612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG2,RPS16 chr19 39916933 39925612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHG2,RPS16 chr19 3993083 3993496 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 3993083 3993496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 39936185 39967308 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 SUPT5H chr19 39940819 39955960 Gain and loss Pancreatic cancer SNP array 17952125 SUPT5H chr19 39940819 39962225 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SUPT5H chr19 39940819 39962225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SUPT5H chr19 39940819 39962225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUPT5H chr19 3996217 4017816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIAS4 chr19 3996217 4017816 Gain and loss Pancreatic cancer SNP array 17952125 PIAS4 chr19 3996217 4017816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIAS4 chr19 39984687 39987340 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 93999787 93999887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNBP1L chr1 94000387 94003050 Loss or gain Normal 244K array 17666407 FNBP1L chr19 40013994 40014081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40023757 40053804 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EID2 chr19 40034895 40035364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40052321 40053139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 40109724 40127909 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40109724 40127909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 4012001 4015000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PIAS4 chr19 40125405 40127914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40125405 40127914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4013884 4013921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIAS4 chr19 40139098 40143044 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40139098 40143044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40139098 40146793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LGALS16 chr19 40139098 40146793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGALS16 chr19 4015001 4305000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD24,CCDC94,CREB3L3,EBI3,FSD1,MAP2K2,PIAS4,SHD,SIRT6,TMIGD2,ZBTB7A chr1 94016204 94016415 Loss Normal 244K array 17666407 FNBP1L chr19 40164584 45166154 Copy number Lung cancer paired-end sequencing 18438408 ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf47,C19orf54,C19orf69,CADM4,CCDC97,CD177,CD79A,CEACAM1,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CLC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DMRTC2,DYRK1B,EGLN2,ERF,ETHE1,EXOSC5,FBL,FCGBP,GRIK5,GSK3A,HIPK4,HNRNPUL1,IGSF23,IRGC,IRGQ,ITPKC,KCNN4,LEUTX,LGALS14,LGALS17A,LIPE,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100996307,LOC284344,LTBP4,LYPD3,LYPD4,LYPD5,MAP3K10,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR4531,MIR641,NUMBL,PAFAH1B3,PHLDB3,PINLYP,PLAUR,PLD3,POU2F2,PRG1,PRR19,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PVR,RAB4B,RAB4B-EGLN2,RABAC1,RPS19,SERTAD1,SERTAD3,SHKBP1,SMG9,SNRPA,SPTBN4,SRRM5,TEX101,TGFB1,TMEM145,TMEM91,TTC9B,XRCC1,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF404,ZNF428,ZNF45,ZNF526,ZNF546,ZNF574,ZNF575,ZNF576,ZNF780A,ZNF780B chr19 40173885 40209213 Gain and loss Pancreatic cancer SNP array 17952125 LGALS14,LGALS17A chr19 40177001 40339000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLC,DYRK1B,FBL,LEUTX,LGALS14,LGALS17A chr19 40183086 40209213 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LGALS14 chr19 40183086 40209213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LGALS14 chr19 40183086 40209213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGALS14 chr19 40185621 40185653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 402087 402390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 40213374 40223192 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLC chr19 40213374 40223192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLC chr19 40213374 40223192 Gain and loss Pancreatic cancer SNP array 17952125 CLC chr19 40213374 40223192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLC chr19 40223250 40249315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLC chr19 40223250 40249315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLC chr19 40223250 40249315 Gain and loss Pancreatic cancer SNP array 17952125 CLC chr19 40223250 40249315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLC chr19 40235837 40343503 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 DYRK1B,FBL,LEUTX chr1 94024047 94024359 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 40241250 40241345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 40247123 40247223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 40257881 40258372 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40263171 40289174 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LEUTX chr19 40263171 40289174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEUTX chr19 40288783 40289981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40293688 40294870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40298623 40307067 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40298639 40307067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40298639 40307067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40298639 40307067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40300000 43000000 Deletion renal disease - 20603712 ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf47,C19orf54,C19orf69,CCDC97,CD79A,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CIC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DMRTC2,DYRK1B,EGLN2,ERF,EXOSC5,FBL,FCGBP,GRIK5,GSK3A,HIPK4,HNRNPUL1,ITPKC,LIPE,LOC100505495,LOC100505622,LOC100996307,LTBP4,LYPD4,MAP3K10,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR641,NUMBL,PAFAH1B3,PLD3,POU2F2,PRR19,PRX,PSMC4,RAB4B,RAB4B-EGLN2,RABAC1,RPS19,SERTAD1,SERTAD3,SHKBP1,SNRPA,SPTBN4,TGFB1,TMEM145,TMEM91,TTC9B,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr19 40300000 43400000 Amplification Ovarian clear cell carcinoma FISH 19293255 ADCK4,AKT2,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,BLVRB,C19orf47,C19orf54,C19orf69,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DMRTC2,DYRK1B,EGLN2,ERF,EXOSC5,FBL,FCGBP,GRIK5,GSK3A,HIPK4,HNRNPUL1,ITPKC,LIPE,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LTBP4,LYPD4,MAP3K10,MEGF8,MIA,MIA-RAB4B,MIR4323,MIR641,NUMBL,PAFAH1B3,PLD3,POU2F2,PRR19,PRX,PSG1,PSG10P,PSG3,PSG8,PSMC4,RAB4B,RAB4B-EGLN2,RABAC1,RPS19,SERTAD1,SERTAD3,SHKBP1,SNRPA,SPTBN4,TGFB1,TMEM145,TMEM91,TTC9B,ZNF526,ZNF546,ZNF574,ZNF780A,ZNF780B chr19 40300000 47800000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 ADCK4,AKT2,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BBC3,BCAM,BCKDHA,BCL3,BLOC1S3,BLVRB,C19orf47,C19orf54,C19orf69,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CKM,CLASRP,CLPTM1,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DACT3,DACT3-AS1,DEDD2,DKFZp434J0226,DMPK,DMRTC2,DMWD,DYRK1B,EGLN2,EML2,ERCC1,ERCC2,ERF,ETHE1,EXOC3L2,EXOSC5,FBL,FBXO46,FCGBP,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,GRIK5,GSK3A,HIF3A,HIPK4,HNRNPUL1,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,ITPKC,KCNN4,KLC3,LIPE,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100996307,LOC284344,LOC388553,LTBP4,LYPD3,LYPD4,LYPD5,MAP3K10,MARK4,MEGF8,MIA,MIA-RAB4B,MIR3190,MIR3191,MIR320E,MIR330,MIR4323,MIR4531,MIR641,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,NUMBL,OPA3,PAFAH1B3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PLD3,PNMAL1,PNMAL2,POU2F2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR19,PRR24,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PTGIR,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RELB,RNU6-66,RPS19,RSPH6A,RTN2,SAE1,SERTAD1,SERTAD3,SHKBP1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPA,SNRPD2,SPTBN4,SRRM5,STRN4,SYMPK,TEX101,TGFB1,TMEM145,TMEM160,TMEM91,TOMM40,TRAPPC6A,TTC9B,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF526,ZNF546,ZNF574,ZNF575,ZNF576,ZNF780A,ZNF780B chr19 40300000 47800000 Breakpoint Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ADCK4,AKT2,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BBC3,BCAM,BCKDHA,BCL3,BLOC1S3,BLVRB,C19orf47,C19orf54,C19orf69,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CCDC97,CD177,CD3EAP,CD79A,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CKM,CLASRP,CLPTM1,CNFN,CNTD2,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DACT3,DACT3-AS1,DEDD2,DKFZp434J0226,DMPK,DMRTC2,DMWD,DYRK1B,EGLN2,EML2,ERCC1,ERCC2,ERF,ETHE1,EXOC3L2,EXOSC5,FBL,FBXO46,FCGBP,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,GRIK5,GSK3A,HIF3A,HIPK4,HNRNPUL1,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,ITPKC,KCNN4,KLC3,LIPE,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100996307,LOC284344,LOC388553,LTBP4,LYPD3,LYPD4,LYPD5,MAP3K10,MARK4,MEGF8,MIA,MIA-RAB4B,MIR3190,MIR3191,MIR320E,MIR330,MIR4323,MIR4531,MIR641,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,NUMBL,OPA3,PAFAH1B3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PLD3,PNMAL1,PNMAL2,POU2F2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR19,PRR24,PRX,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PTGIR,PVR,PVRL2,QPCTL,RAB4B,RAB4B-EGLN2,RABAC1,RELB,RNU6-66,RPS19,RSPH6A,RTN2,SAE1,SERTAD1,SERTAD3,SHKBP1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPA,SNRPD2,SPTBN4,SRRM5,STRN4,SYMPK,TEX101,TGFB1,TMEM145,TMEM160,TMEM91,TOMM40,TRAPPC6A,TTC9B,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF526,ZNF546,ZNF574,ZNF575,ZNF576,ZNF780A,ZNF780B chr19 40306561 40307064 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 40307257 40317944 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DYRK1B chr19 40307257 40317944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYRK1B chr19 40307257 40317944 Gain and loss Pancreatic cancer SNP array 17952125 DYRK1B chr19 40307257 40317944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYRK1B chr19 40308177 40308277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 4031743 4031843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIAS4 chr19 40321568 40325853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYRK1B,FBL chr19 40321568 40325853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYRK1B,FBL chr19 40321572 40325794 Gain and loss Pancreatic cancer SNP array 17952125 DYRK1B,FBL chr19 40321572 40337045 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DYRK1B,FBL chr19 40321575 40322101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYRK1B chr19 40325994 40337045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBL chr19 40325994 40337045 Gain and loss Pancreatic cancer SNP array 17952125 FBL chr19 40325994 40337045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBL chr19 40337466 40352625 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 40337467 40352625 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40337467 40352625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40337467 40352625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40337467 40352625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40347121 40358332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGBP chr19 40349804 40394405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCGBP chr19 40352919 40357640 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FCGBP chr19 40352920 40357637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FCGBP chr19 40353025 40358078 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FCGBP chr19 40353068 40357750 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 FCGBP chr19 40353068 40357750 Total allelic loss Normal High-resolution SNP genotyping 21211785 FCGBP chr19 40353124 40357867 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 FCGBP chr19 40353124 40357867 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FCGBP chr19 40402918 40578953 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FCGBP,PSMC4,ZNF546,ZNF780A,ZNF780B chr19 40407544 40411468 Gain and loss Pancreatic cancer SNP array 17952125 FCGBP chr19 40407546 40411472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FCGBP chr19 40407546 40411472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCGBP chr19 40407546 40411472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCGBP chr19 40412796 40578953 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FCGBP,PSMC4,ZNF546,ZNF780A,ZNF780B chr19 4041319 4075126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7A chr19 4041319 4075126 Gain or loss Breast cancer - 20668451 ZBTB7A chr19 4041319 4075126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB7A chr19 4041319 4075126 Gain or loss Cancer - 20668451 ZBTB7A chr19 4041319 4075126 Gain or loss Lung cancer - 20668451 ZBTB7A chr19 4041319 4075126 Gain or loss Ovarian cancer - 20668451 ZBTB7A chr19 4041319 4075126 Gain or loss Pancreas cancer - 20668451 ZBTB7A chr19 4041319 4075126 Gain or loss Prostate cancer - 20668451 ZBTB7A chr19 4041322 4075126 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB7A chr19 404134 404239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 404134 404239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40430501 40544000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FCGBP,PSMC4,ZNF546,ZNF780B chr19 40431399 40450703 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FCGBP chr19 40431399 40450705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCGBP chr19 40431399 40450705 Gain and loss Pancreatic cancer SNP array 17952125 FCGBP chr19 40431399 40450705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCGBP chr19 40451721 40462558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40451735 40462558 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr19 40451735 40462558 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 40451736 40462558 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40451736 40462558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40451736 40462558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40465250 40467886 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40465250 40467886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40465250 40467886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40465250 40467886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 94047355 94056763 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr19 40474868 40496547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSMC4 chr19 40474868 40496547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMC4 chr19 40474868 40496547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMC4 chr19 40474877 40511973 Gain or loss Breast cancer - 20668451 PSMC4,ZNF546 chr19 40474877 40511973 Gain or loss Cancer - 20668451 PSMC4,ZNF546 chr19 40474877 40511973 Gain or loss Lung cancer - 20668451 PSMC4,ZNF546 chr19 40474877 40511973 Gain or loss Ovarian cancer - 20668451 PSMC4,ZNF546 chr19 40474877 40511973 Gain or loss Pancreas cancer - 20668451 PSMC4,ZNF546 chr19 40474877 40511973 Gain or loss Prostate cancer - 20668451 PSMC4,ZNF546 chr19 40474878 40496547 Gain and loss Pancreatic cancer SNP array 17952125 PSMC4 chr19 40511918 40530104 Gain or loss Breast cancer - 20668451 ZNF546 chr19 40511918 40530104 Gain or loss Cancer - 20668451 ZNF546 chr19 40511918 40530104 Gain or loss Lung cancer - 20668451 ZNF546 chr19 40511918 40530104 Gain or loss Ovarian cancer - 20668451 ZNF546 chr19 40511918 40530104 Gain or loss Pancreas cancer - 20668451 ZNF546 chr19 40511918 40530104 Gain or loss Prostate cancer - 20668451 ZNF546 chr19 40511919 40530098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF546 chr19 40511919 40530098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF546 chr19 40511930 40530098 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF546 chr19 40511930 40530098 Gain and loss Pancreatic cancer SNP array 17952125 ZNF546 chr19 40529245 40558675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF780B chr19 40534295 40535197 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF780B chr19 40534295 40535197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF780B chr19 40534295 40535197 Gain and loss Pancreatic cancer SNP array 17952125 ZNF780B chr19 40534295 40535197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF780B chr19 40537861 40559508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF780B chr19 40537990 40540901 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF780B chr19 40540647 40556189 Loss or gain Normal 244K array 17666407 ZNF780B chr19 40540901 40541011 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF780B chr19 40540915 40554850 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNF780B chr19 40540915 40554850 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 ZNF780B chr19 40541011 40541149 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF780B chr19 40541137 40553676 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF780B chr19 40541149 40541333 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF780B chr19 40541321 40552998 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF780B chr19 40541321 40553676 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF780B chr19 40541321 40558782 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF780B chr19 40541333 40553688 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 ZNF780B chr19 40541333 40553688 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 ZNF780B chr19 40541333 40553688 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZNF780B chr19 40541342 40543227 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF780B chr19 40541342 40543227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF780B chr19 40541342 40543227 Gain and loss Pancreatic cancer SNP array 17952125 ZNF780B chr19 40541342 40543227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF780B chr19 40541774 40557491 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 ZNF780B chr19 40541774 40557491 Total allelic loss Normal High-resolution SNP genotyping 21211785 ZNF780B chr19 40542032 40594955 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF780A,ZNF780B chr19 40542097 41211643 Gain Anaplastic thyroid cancer 33K microarrays 18753363 ADCK4,AKT2,BLVRB,C19orf47,CNTD2,HIPK4,LTBP4,MAP3K10,MIR641,NUMBL,PLD3,PRX,SERTAD1,SERTAD3,SHKBP1,SPTBN4,TTC9B,ZNF780A,ZNF780B chr19 40544001 40547000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF780B chr19 40547001 40555750 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF780B chr19 40548765 40553535 Deletion Medulloblastoma Illumina SNP arrays 21163964 ZNF780B chr19 40554032 40555213 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF780B chr19 40554032 40555213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF780B chr19 40554032 40555213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF780B chr19 40554102 40555142 Gain and loss Pancreatic cancer SNP array 17952125 ZNF780B chr19 40564976 40565063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40588349 40599582 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF780A chr19 40588349 40599582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF780A chr1 94060875 94063950 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 BCAR3,LOC100129046 chr1 94060961 94063844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCAR3,LOC100129046 chr19 40632457 40633449 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40632457 40633449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40632457 40633449 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40632457 40633449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 94066034 94086987 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr19 40670068 40673196 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40670068 40673196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40670068 40673196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40670068 40673196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40674501 41335500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCK4,AKT2,BLVRB,C19orf47,C19orf54,CNTD2,EGLN2,HIPK4,ITPKC,LTBP4,MAP3K10,MIA,MIA-RAB4B,MIR641,NUMBL,PLD3,PRX,RAB4B,RAB4B-EGLN2,SERTAD1,SERTAD3,SHKBP1,SNRPA,SPTBN4,TTC9B chr19 40679963 40696394 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40679963 40696394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40679963 40696394 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40679963 40696394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40680588 41040430 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 AKT2,BLVRB,C19orf47,CNTD2,HIPK4,MAP3K10,MIR641,PLD3,PRX,SERTAD1,SERTAD3,SPTBN4,TTC9B chr19 4068490 4100563 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP2K2 chr19 40694202 40694252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 40706109 40711093 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAP3K10 chr19 40706109 40711093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K10 chr19 40706109 40711093 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K10 chr19 40706109 40711093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K10 chr19 40711566 40711646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K10 chr19 40716154 40728061 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAP3K10,TTC9B chr19 40716154 40728061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K10,TTC9B chr19 40716154 40728061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K10,TTC9B chr19 40716204 40728058 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K10,TTC9B chr19 40719584 40719635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K10 chr19 40725327 40725417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 40728372 40730268 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNTD2 chr19 40728372 40730268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTD2 chr19 40728372 40730268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTD2 chr19 40728382 40730268 Gain and loss Pancreatic cancer SNP array 17952125 CNTD2 chr19 40732936 40746400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AKT2 chr19 40732936 40746400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKT2 chr19 40732936 40746400 Gain and loss Pancreatic cancer SNP array 17952125 AKT2 chr19 40732936 40746400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKT2 chr19 40738649 40738728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AKT2 chr19 40756370 40757244 Gain and loss Pancreatic cancer SNP array 17952125 AKT2 chr19 40758346 40758515 Gain and loss Pancreatic cancer SNP array 17952125 AKT2 chr19 40758346 40758515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKT2 chr19 40795513 40808091 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40795513 40808091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40795514 40806351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40811810 40820427 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40811819 40820426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40811820 40820426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40811820 40820426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40824487 40827613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf47 chr19 40824499 40827613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C19orf47 chr19 40825203 40827613 Gain and loss Pancreatic cancer SNP array 17952125 C19orf47 chr19 40830995 40841523 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C19orf47 chr19 40830995 40841523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf47 chr19 40830995 40841523 Gain and loss Pancreatic cancer SNP array 17952125 C19orf47 chr19 40830995 40841523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf47 chr19 40849555 40861198 Gain and loss Pancreatic cancer SNP array 17952125 C19orf47,PLD3 chr19 40849555 40861207 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C19orf47,PLD3 chr19 40849555 40861207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf47,PLD3 chr19 40849555 40861207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf47,PLD3 chr1 94084976 94085055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr19 40850693 40856037 Gain and loss Pancreatic cancer SNP array 17952125 C19orf47,PLD3 chr19 40884234 40884272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLD3 chr19 40884757 40884796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 40895670 40899780 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIPK4,PRX chr19 40895670 40899780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIPK4,PRX chr19 40895670 40899780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIPK4,PRX chr19 40896175 40899780 Gain and loss Pancreatic cancer SNP array 17952125 PRX chr19 40900760 40921619 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 PRX chr19 40900761 40921619 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRX chr19 40900761 40921619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRX chr19 40900761 40921619 Gain and loss Pancreatic cancer SNP array 17952125 PRX chr19 40900761 40921619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRX chr19 40921993 40925191 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40921993 40925191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40921993 40925191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40921993 40925191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40925270 40928176 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40925270 40928176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40925270 40928176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40925273 40928146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40928334 40929743 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SERTAD1 chr19 40928334 40929743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERTAD1 chr19 40928334 40929743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERTAD1 chr19 40928334 40937259 Gain and loss Pancreatic cancer SNP array 17952125 SERTAD1 chr19 40929965 40930606 Gain and loss Pancreatic cancer SNP array 17952125 SERTAD1 chr19 40931339 40937257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SERTAD1 chr19 40931339 40937257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SERTAD1 chr19 40931352 40937257 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SERTAD1 chr19 40937310 40939770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 40937336 40939799 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 40937336 40939799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40937336 40939799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 40937482 40937796 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 40939938 41019682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BLVRB,SERTAD3,SPTBN4 chr19 40939938 41019682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLVRB,SERTAD3,SPTBN4 chr19 40939938 41019682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLVRB,SERTAD3,SPTBN4 chr19 40940925 41019682 Gain and loss Pancreatic cancer SNP array 17952125 BLVRB,SERTAD3,SPTBN4 chr19 40958257 40971564 Gain and loss Pancreatic cancer SNP array 17952125 BLVRB chr19 40958316 40971564 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BLVRB chr19 40958316 40971564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLVRB chr19 40958316 40971564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLVRB chr19 40974048 40975914 Gain and loss Pancreatic cancer SNP array 17952125 SPTBN4 chr19 40982732 40996023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr19 40982732 40996023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr19 40982732 41034579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPTBN4 chr19 40982732 41034579 Gain and loss Pancreatic cancer SNP array 17952125 SPTBN4 chr1 94099562 94099632 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr1 94099633 94099690 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr1 94099692 94099757 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr19 41005488 43617905 LOH Normal High-resolution SNP genotyping 21211785 ADCK4,ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,C19orf54,C19orf69,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CNFN,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,DEDD2,DMRTC2,EGLN2,ERF,EXOSC5,GRIK5,GSK3A,HNRNPUL1,ITPKC,LIPE,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LTBP4,LYPD4,MEGF8,MIA,MIA-RAB4B,MIR4323,NUMBL,PAFAH1B3,POU2F2,PRR19,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG6,PSG7,PSG8,RAB4B,RAB4B-EGLN2,RABAC1,RPS19,SHKBP1,SNRPA,SPTBN4,TGFB1,TMEM145,TMEM91,ZNF526,ZNF574 chr19 41008706 41034579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr19 41008706 41034579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr1 94101885 94101948 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr19 41038602 41049278 Gain and loss Pancreatic cancer SNP array 17952125 SPTBN4 chr19 41039650 41049888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr19 41039650 41049888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr19 41039664 41049876 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPTBN4 chr19 4104629 4124050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP2K2 chr19 4104629 4124050 Gain and loss Pancreatic cancer SNP array 17952125 MAP2K2 chr19 4104629 4124050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2K2 chr19 41051241 41062539 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPTBN4 chr19 41051241 41062539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr19 41051241 41062539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr19 41051304 41062530 Gain and loss Pancreatic cancer SNP array 17952125 SPTBN4 chr19 41064632 41064893 Gain and loss Pancreatic cancer SNP array 17952125 SPTBN4 chr19 41064632 41064893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTBN4 chr19 41070983 41085025 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHKBP1,SPTBN4 chr19 41070983 41085025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHKBP1,SPTBN4 chr19 41070983 41085025 Gain and loss Pancreatic cancer SNP array 17952125 SHKBP1,SPTBN4 chr19 41070983 41085025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHKBP1,SPTBN4 chr1 94107853 94117323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94107853 94117323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr19 41085221 41087013 Deletion Intellectual disability 100k SNP Array 21811512 SHKBP1 chr19 41085222 41087015 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHKBP1 chr19 41085222 41087015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHKBP1 chr19 41085222 41087015 Gain and loss Pancreatic cancer SNP array 17952125 SHKBP1 chr19 41085222 41087015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHKBP1 chr19 41087150 41091026 Gain and loss Pancreatic cancer SNP array 17952125 SHKBP1 chr19 41087152 41091026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SHKBP1 chr19 41087152 41091026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHKBP1 chr19 41087152 41091026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHKBP1 chr1 94111531 94111594 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr1 94111692 94111759 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr1 94111767 94111834 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr19 41119590 41127924 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LTBP4 chr19 41119590 41127924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LTBP4 chr19 41119590 41127924 Gain and loss Pancreatic cancer SNP array 17952125 LTBP4 chr19 41119590 41127924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBP4 chr19 41177941 41179053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NUMBL chr19 41177941 41179053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUMBL chr19 41177941 41179053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUMBL chr19 41185842 41191512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUMBL chr19 41185842 41191512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUMBL chr19 41185842 41196981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NUMBL chr19 41186050 41191524 Gain and loss Pancreatic cancer SNP array 17952125 NUMBL chr19 41191862 41196981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUMBL chr19 41191862 41196981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUMBL chr19 41191863 41196981 Gain and loss Pancreatic cancer SNP array 17952125 NUMBL chr19 41194105 41194205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUMBL chr19 41197402 41215635 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADCK4 chr19 41197402 41215635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCK4 chr19 41197402 41215635 Gain and loss Pancreatic cancer SNP array 17952125 ADCK4 chr19 41197402 41215635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCK4 chr19 41217727 41237504 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADCK4,ITPKC chr19 41217727 41237504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCK4,ITPKC chr19 41217727 41237504 Gain and loss Pancreatic cancer SNP array 17952125 ADCK4,ITPKC chr19 41217727 41237504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCK4,ITPKC chr19 41231888 41231963 Gain and loss Pancreatic cancer SNP array 17952125 ITPKC chr19 41231888 41231964 Gain and loss Pancreatic cancer SNP array 17952125 ITPKC chr19 41231888 41231966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITPKC chr19 41237623 41287852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf54,ITPKC,MIA,MIA-RAB4B,RAB4B,RAB4B-EGLN2,SNRPA chr19 41237623 41287852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf54,ITPKC,MIA,MIA-RAB4B,RAB4B,RAB4B-EGLN2,SNRPA chr19 41237660 41287845 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C19orf54,ITPKC,MIA,MIA-RAB4B,RAB4B,RAB4B-EGLN2,SNRPA chr19 41237679 41287848 Gain and loss Pancreatic cancer SNP array 17952125 C19orf54,ITPKC,MIA,MIA-RAB4B,RAB4B,RAB4B-EGLN2,SNRPA chr19 4125106 4133596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4125106 4133596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 4125106 4133596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 94125177 94147600 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 BCAR3 chr1 94125178 94147600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94125178 94147600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr19 41262732 41262831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRPA chr19 4128752 41237623 Copy number Autism exome sequencing 22495311 ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADCK4,AKAP8,AKAP8L,AKT2,ALKBH6,ALKBH7,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,APLP1,ARHGAP33,ARHGEF18,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATG4D,ATP13A1,ATP4A,B3GNT3,BABAM1,BEST2,BLVRB,BRD4,BST2,C19orf10,C19orf12,C19orf33,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf52,C19orf53,C19orf55,C19orf57,C19orf59,C19orf60,C19orf66,C19orf70,C19orf80,C3,C3P1,CACNA1A,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARM1,CASP14,CATSPERD,CATSPERG,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CCNE1,CD209,CD22,CD320,CD70,CD97,CDC37,CDKN2D,CEBPA,CEBPA-AS1,CEBPG,CEP89,CERS1,CERS4,CHAF1A,CHERP,CHST8,CIB3,CILP2,CLC,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CNN1,CNTD2,COL5A3,COMP,COPE,COX6B1,COX7A1,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DKFZp566F0947,DLL3,DMKN,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DPF1,DPP9,DPY19L3,DUS3L,DYRK1B,EBI3,ECH1,ECSIT,EID2,EID2B,EIF3G,EIF3K,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,ETV2,EVI5L,F2RL3,FAM125A,FAM129C,FAM187B,FAM32A,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXW9,FCER2,FCGBP,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FKBP8,FLJ22184,FLJ25328,FLJ25758,FSD1,FUT3,FUT5,FUT6,FXYD1,FXYD3,FXYD5,FXYD7,GADD45GIP1,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GGN,GIPC1,GLT25D1,GMFG,GMIP,GPATCH1,GPI,GPR108,GRAMD1A,GTF2F1,GTPBP3,HAMP,HAPLN4,HAUS5,HAUS8,HAVCR1P1,HCST,HDGFRP2,HIPK4,HKR1,HNRNPL,HNRNPM,HOMER3,HOOK2,HPN,HSD11B1L,HSH2D,HSPB6,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFLR1,IL12RB1,IL27RA,IL28A,IL28B,IL29,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,ITPKC,JAK3,JUNB,JUND,KANK2,KANK3,KCNK6,KCNN1,KCTD15,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIRREL2,KLF1,KLF2,KLHL26,KRI1,KRTDAP,KXD1,LDLR,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00661,LINC00662,LINC00663,LINC00665,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129935,LOC100131094,LOC100134317,LOC100505835,LOC100506469,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC113230,LOC148145,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC8E,LSM14A,LSM4,LSR,LTBP4,LYL1,MAG,MAN2B1,MAP1S,MAP2K7,MAP3K10,MAP4K1,MARCH2,MAST1,MAST3,MAU2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1181,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR3940,MIR4322,MIR4530,MIR4746,MIR4747,MIR4748,MIR4999,MIR5196,MIR638,MIR639,MIR641,MIR7-3,MIR7-3HG,MLL4,MLLT1,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPS12,MUC16,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCCRP1,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NFIX,NFKBIB,NFKBID,NOTCH3,NPHS1,NR2C2AP,NR2F6,NRTN,NUDT19,NUMBL,NWD1,NXNL1,OCEL1,OLFM2,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OVOL3,P2RY11,PAF1,PAK4,PALM3,PAPL,PBX4,PCP2,PDCD2L,PDCD5,PDE4A,PDE4C,PEPD,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIK3R2,PIN1,PKN1,PLAC2,PLD3,PLEKHF1,PLEKHG2,PLIN3,PLIN4,PLIN5,PLVAP,PNPLA6,PODNL1,POLR2I,POP4,PPAN,PPAN-P2RY11,PPP1R14A,PRAM1,PRDX2,PRKACA,PRKCSH,PRODH2,PRR22,PRX,PSENEN,PSMC4,PSMD8,PSPN,PTGER1,PTPRS,QTRT1,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RASGRP4,RAVER1,RBM42,RDH8,RETN,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RPL18A,RPL36,RPS16,RPS28,RPSAP58,RTBDN,RYR1,S1PR2,S1PR5,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SEMA6B,SERTAD1,SERTAD3,SH2D3A,SH3GL1,SHD,SHKBP1,SIN3B,SIPA1L3,SIRT2,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC44A2,SLC5A5,SLC7A10,SLC7A9,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD41,SPC24,SPINT2,SPRED3,SPTBN4,SSBP4,STAP2,STX10,STXBP2,SUGP1,SUGP2,SUPT5H,SWSAP1,SYCE2,SYCN,SYDE1,SYNE4,TBCB,TDRD12,TECR,TGFBR3L,THAP8,THEG5,TICAM1,TIMM44,TIMM50,TM6SF2,TMED1,TMEM147,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPM4,TRAPPC5,TRIP10,TRMT1,TSHZ3,TSPAN16,TSSK6,TTC9B,TUBB4A,TYK2,TYROBP,U2AF1L4,UBA2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USE1,USF2,USHBP1,VAV1,VMAC,VSTM2B,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,YIF1B,YIPF2,YJEFN3,ZBTB32,ZFP14,ZFP30,ZFP36,ZFP82,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF146,ZNF177,ZNF181,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF260,ZNF266,ZNF30,ZNF302,ZNF317,ZNF333,ZNF345,ZNF358,ZNF382,ZNF383,ZNF414,ZNF420,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF461,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF507,ZNF527,ZNF529,ZNF536,ZNF540,ZNF546,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF780A,ZNF780B,ZNF781,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF829,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF850,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 41291260 41291310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41293849 41296403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41293849 41296403 Gain and loss Pancreatic cancer SNP array 17952125 MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41293849 41296453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41296452 41298046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41296452 41298046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41296452 41298088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41296452 41298088 Gain and loss Pancreatic cancer SNP array 17952125 MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41297728 41308689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EGLN2,MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41297728 41308689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGLN2,MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41297728 41308689 Gain and loss Pancreatic cancer SNP array 17952125 EGLN2,MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41297728 41308689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGLN2,MIA-RAB4B,RAB4B,RAB4B-EGLN2 chr19 41322757 41333095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 41322758 41333094 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 41322758 41333094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 41322758 41333094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 41333663 41335611 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr19 41333664 41335611 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 41333664 41335611 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 41333664 41335611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 41333664 41335611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4134323 4175502 Gain and loss Pancreatic cancer SNP array 17952125 CREB3L3,SIRT6 chr19 4134323 4175811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREB3L3,SIRT6 chr19 4134323 4175811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREB3L3,SIRT6 chr19 41354515 41354807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYP2A6 chr19 41360360 41428975 Gain and loss Pancreatic cancer SNP array 17952125 CYP2A7,CYP2G1P chr19 41365028 41397826 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP2A7,CYP2G1P chr19 41365028 41397826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2A7,CYP2G1P chr19 41365028 41397826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2A7,CYP2G1P chr19 41386089 41386201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2A7 chr19 41386090 41386200 Gain and loss Pancreatic cancer SNP array 17952125 CYP2A7 chr19 41386091 41386201 Gain and loss Pancreatic cancer SNP array 17952125 CYP2A7 chr19 41397875 41421506 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP2G1P chr19 41397875 41421506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2G1P chr19 41397875 41421506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2G1P chr19 41411488 41421506 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 94142496 94142596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAR3 chr19 414360 425983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHC2 chr19 414360 425983 Gain and loss Pancreatic cancer SNP array 17952125 SHC2 chr19 414360 425983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHC2 chr19 41450180 41491389 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 CYP2B7P1 chr19 41454921 41460426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP2B7P1 chr19 41485571 41485661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 4148720 4148819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 41487864 41487964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 41490030 41505792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP2B6 chr19 41493100 41495403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 41493100 41495403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 41496309 41541512 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP2B6 chr19 41498095 41498457 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP2B6 chr19 41498095 41498457 Gain and loss Pancreatic cancer SNP array 17952125 CYP2B6 chr19 41499834 41688703 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CYP2A13,CYP2B6,CYP2F1 chr19 41499834 41688703 Copy number gain Normal High-resolution SNP genotyping 21211785 CYP2A13,CYP2B6,CYP2F1 chr19 41499834 41748646 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AXL,CYP2A13,CYP2B6,CYP2F1,CYP2S1 chr19 41499834 41748646 Copy number gain Normal High-resolution SNP genotyping 21211785 AXL,CYP2A13,CYP2B6,CYP2F1,CYP2S1 chr19 41513191 41513289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2B6 chr19 41519002 41561918 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP2B6 chr19 41519002 41561918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2B6 chr19 41519002 41561918 Gain and loss Pancreatic cancer SNP array 17952125 CYP2B6 chr19 41519002 41561918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2B6 chr19 41523559 41557255 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP2B6 chr19 41528114 41542083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 41531101 41540800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 41532106 41538865 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 41532592 41538914 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 41534966 41535932 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr19 41537207 43950895 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,C19orf69,CCDC97,CD177,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CNFN,CXCL17,CYP2A13,CYP2F1,CYP2S1,DEDD2,DMRTC2,ERF,EXOSC5,GRIK5,GSK3A,HNRNPUL1,LIPE,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LOC284344,LYPD4,MEGF8,MIR4323,PAFAH1B3,POU2F2,PRG1,PRR19,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,RABAC1,RPS19,TEX101,TGFB1,TMEM145,TMEM91,ZNF526,ZNF574 chr19 41537715 41539338 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 41537991 41539339 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 41556626 43445545 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,C19orf69,CCDC97,CD79A,CEACAM1,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CIC,CNFN,CXCL17,CYP2A13,CYP2F1,CYP2S1,DEDD2,DMRTC2,ERF,EXOSC5,GRIK5,GSK3A,HNRNPUL1,LIPE,LOC100289650,LOC100505495,LOC100505622,LOC100996307,LYPD4,MEGF8,MIR4323,PAFAH1B3,POU2F2,PRR19,PSG1,PSG10P,PSG3,PSG6,PSG7,PSG8,RABAC1,RPS19,TGFB1,TMEM145,TMEM91,ZNF526,ZNF574 chr19 41574701 41601390 Gain and loss Pancreatic cancer SNP array 17952125 CYP2A13 chr19 41574701 41601398 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP2A13 chr19 41574701 41601398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2A13 chr19 41574701 41601398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2A13 chr19 41591525 41629574 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2A13,CYP2F1 chr19 41591525 41648091 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2A13,CYP2F1 chr19 41591525 41680050 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2A13,CYP2F1 chr1 94159410 94159870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr19 41597376 41633689 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYP2A13,CYP2F1 chr1 94160129 94160199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94160200 94160257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94160259 94160324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr19 41603993 41605639 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 41604279 41605529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 94160718 94162089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94162452 94162515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94162530 94162860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94162887 94163529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr19 41630424 41672183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP2F1 chr19 41630424 41672183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2F1 chr19 41630424 41672183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2F1 chr19 41630424 41672248 Gain and loss Pancreatic cancer SNP array 17952125 CYP2F1 chr1 94163550 94164216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94164176 94164332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94164759 94165713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94165858 94166446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr19 41692004 41692747 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 41694521 41708041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP2S1 chr19 41696334 41711014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2S1 chr1 94170417 94298709 Gain and loss Pancreatic cancer SNP array 17952125 BCAR3 chr19 4170533 4175602 Gain Normal 244K array 17666407 CREB3L3,SIRT6 chr19 41720383 41977233 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,C19orf69,CCDC97,EXOSC5,HNRNPUL1,LOC100505495,TGFB1,TMEM91 chr1 94172098 94172161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94172259 94172326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94172334 94172401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr1 94172623 94173388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3 chr19 41727140 41756030 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AXL chr19 41727140 41756030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AXL chr19 41727140 41756030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AXL chr19 41727142 41755994 Gain and loss Pancreatic cancer SNP array 17952125 AXL chr19 41728363 41728482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AXL chr19 41729171 42525588 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF1,ATP1A3,ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,C19orf69,CCDC97,CD79A,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,DMRTC2,EXOSC5,GRIK5,HNRNPUL1,LOC100505495,LYPD4,RABAC1,RPS19,TGFB1,TMEM91 chr19 41737335 42037335 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ATP5SL,AXL,B3GNT8,B9D2,BCKDHA,C19orf69,CCDC97,EXOSC5,HNRNPUL1,LOC100505495,TGFB1,TMEM91 chr19 41738022 41738337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AXL chr19 41743871 41744214 Gain and loss Pancreatic cancer SNP array 17952125 AXL chr19 41743871 41745007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AXL chr19 41788061 41811338 Gain and loss Pancreatic cancer SNP array 17952125 HNRNPUL1 chr19 41788061 41811584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HNRNPUL1 chr19 41788061 41811584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPUL1 chr19 41788061 41811584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPUL1 chr19 4180495 4188506 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD24,SIRT6 chr19 4180495 4188515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD24,SIRT6 chr19 4180495 4188515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD24,SIRT6 chr19 41811885 41811985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HNRNPUL1 chr19 41814438 41814588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 41820122 41849579 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CCDC97,TGFB1 chr19 41820123 41849579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC97,TGFB1 chr19 41820123 41849579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC97,TGFB1 chr19 41821395 41855677 Gain and loss Pancreatic cancer SNP array 17952125 CCDC97,TGFB1 chr19 41832383 41939312 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATP5SL,B3GNT8,B9D2,BCKDHA,EXOSC5,TGFB1,TMEM91 chr19 41836811 41859831 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 TGFB1 chr19 41843381 41861780 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 B9D2,TGFB1 chr19 41861860 41861909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 B9D2 chr19 41872142 41904063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCKDHA,EXOSC5,TMEM91 chr19 41872142 41904063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCKDHA,EXOSC5,TMEM91 chr19 41872142 41904063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCKDHA,EXOSC5,TMEM91 chr19 41893982 41904063 Gain and loss Pancreatic cancer SNP array 17952125 BCKDHA,EXOSC5 chr19 41911 388822 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FAM138A,FAM138F,FLJ45445,MIER2,OR4F17,PPAP2C,THEG,WASH5P chr19 41931454 41955556 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP5SL,B3GNT8,C19orf69 chr19 41931454 41955556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5SL,B3GNT8,C19orf69 chr19 41932192 42098763 Gain and loss Pancreatic cancer SNP array 17952125 ATP5SL,B3GNT8,C19orf69,CEACAM21,LOC100505495 chr19 41932750 41955556 Gain and loss Pancreatic cancer SNP array 17952125 ATP5SL,B3GNT8,C19orf69 chr1 941944 950545 Gain and loss Pancreatic cancer SNP array 17952125 ISG15 chr19 41950063 41950208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C19orf69 chr19 41976002 42338831 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1147K arrays 21546498 CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,LOC100505495 chr19 41976158 41976467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100505495 chr19 41977115 41977204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100505495 chr19 4198087 4220083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD24 chr19 4198087 4220083 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD24 chr19 4198087 4220083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD24 chr19 42000176 42021124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100505495 chr19 42000176 42021124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505495 chr19 42000275 42066106 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100505495 chr19 42000915 42021123 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100505495 chr19 42000915 42021123 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505495 chr19 42014819 42193319 Copy number Schizophrenia - 18511947 CEACAM21,CEACAM4,CEACAM7 chr19 42033103 42062306 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 42033103 42062306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 42033103 42062306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 42033103 42062308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 9420354 9420424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPSB1 chr19 42040969 42041071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 42040971 42041071 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 42055358 42055458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 42061188 42062100 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 42063572 42607072 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF1,ATP1A3,CD79A,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,DMRTC2,GRIK5,LYPD4,POU2F2,RABAC1,RPS19,ZNF574 chr19 42063572 42607072 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF1,ATP1A3,CD79A,CEACAM21,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,DMRTC2,GRIK5,LYPD4,POU2F2,RABAC1,RPS19,ZNF574 chr19 42072990 42073090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 42074092 42099030 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CEACAM21 chr19 42074093 42099030 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM21 chr19 42074093 42099030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM21 chr19 42074093 42099030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM21 chr1 94209776 94209876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAR3 chr19 42099074 42134290 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM4 chr19 42099074 42134290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM4 chr19 42099074 42134290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM4 chr19 42119468 42135483 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM4 chr19 42121018 42121095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 42136730 42136810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 42152575 42153125 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 42152601 42153151 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 42154927 42155011 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 42208760 42208855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 42237723 42240482 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 42261177 42313052 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM3,CEACAM6 chr19 42261177 42313052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM3,CEACAM6 chr19 42261177 42313052 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM3,CEACAM6 chr19 42261177 42313052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM3,CEACAM6 chr19 42289479 42355468 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM3,DMRTC2,LYPD4 chr19 42289479 42355468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM3,DMRTC2,LYPD4 chr19 42289479 42355468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM3,DMRTC2,LYPD4 chr19 4229598 4241721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EBI3 chr19 4229598 4241721 Gain and loss Pancreatic cancer SNP array 17952125 EBI3 chr19 4229598 4241721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EBI3 chr1 94230041 94230114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAR3 chr1 94230221 94230272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAR3 chr19 42307604 42307863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM3 chr19 42309188 42354047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEACAM3,DMRTC2,LYPD4 chr1 94230981 94359298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAR3,DNTTIP2,GCLM,MIR760 chr1 94230981 94359298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAR3,DNTTIP2,GCLM,MIR760 chr19 42314596 42314848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM3 chr19 42332844 42355430 Gain and loss Pancreatic cancer SNP array 17952125 DMRTC2,LYPD4 chr19 42367509 42393293 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF1,CD79A,RPS19 chr19 42367509 42393293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF1,CD79A,RPS19 chr19 42367509 42393293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF1,CD79A,RPS19 chr19 42367969 42393226 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF1,CD79A,RPS19 chr19 42368828 42369771 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 RPS19 chr19 42377799 42980580 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF1,ATP1A3,CD79A,CIC,CNFN,CXCL17,DEDD2,ERF,GRIK5,GSK3A,LIPE,LOC100505622,LOC100996307,MEGF8,MIR4323,PAFAH1B3,POU2F2,PRR19,RABAC1,TMEM145,ZNF526,ZNF574 chr19 42378395 42378450 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 42401022 42426663 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGEF1 chr19 42401022 42426663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF1 chr19 42401022 42426663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF1 chr19 424091 424180 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SHC2 chr19 42409206 42426414 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF1 chr19 42409209 42418811 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ARHGEF1 chr19 42414394 42414469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 42418263 42418336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 42425967 42426052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 4243237 4253428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC94 chr19 4243237 4253428 Gain and loss Pancreatic cancer SNP array 17952125 CCDC94 chr19 4243237 4253428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC94 chr19 42451407 42488459 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 ATP1A3,RABAC1 chr19 424551 424800 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SHC2 chr19 42497612 42497695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP1A3 chr19 42506441 42506541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK5 chr19 425104 469906 Loss or gain Normal 244K array 17666407 ODF3L2,SHC2 chr19 42517408 42547195 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIK5 chr19 42517408 42547195 Gain and loss Pancreatic cancer SNP array 17952125 GRIK5 chr19 42517419 42547197 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GRIK5 chr19 42517420 42547195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK5 chr19 42517420 42547195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK5 chr19 42546002 42546092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK5 chr19 42553899 42572621 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIK5 chr19 42553899 42575806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK5 chr19 42553899 42575806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK5 chr19 42553899 42575808 Gain and loss Pancreatic cancer SNP array 17952125 GRIK5 chr19 4255668 4274833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC94 chr19 4255668 4274833 Gain and loss Pancreatic cancer SNP array 17952125 CCDC94 chr19 4255668 4274833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC94 chr19 42563525 42563625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK5 chr19 42588617 42588806 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr19 42593902 42650179 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100505622,MIR4323,POU2F2 chr19 42593902 42650179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100505622,MIR4323,POU2F2 chr19 42593902 42650179 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505622,MIR4323,POU2F2 chr19 42593902 42650179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505622,MIR4323,POU2F2 chr19 42651821 42668082 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 42651822 42668082 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 42651822 42668082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 42651822 42668082 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 42651822 42668082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 42660072 42660146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 42671304 42678874 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr19 42689680 42726079 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DEDD2,ZNF526 chr19 42706147 42723007 Gain and loss Pancreatic cancer SNP array 17952125 DEDD2 chr19 42714126 42726073 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DEDD2,ZNF526 chr19 42714126 42726073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEDD2,ZNF526 chr19 42714126 42726073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEDD2,ZNF526 chr19 42717180 42735658 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DEDD2,GSK3A,ZNF526 chr19 42722522 42801141 Loss Autism - 20841430 CIC,DEDD2,ERF,GSK3A,ZNF526 chr19 42728213 42731913 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF526 chr19 42728213 42731913 Gain and loss Pancreatic cancer SNP array 17952125 ZNF526 chr19 42728213 42731913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF526 chr19 42745134 42777531 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERF,GSK3A chr19 42745134 42777531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERF,GSK3A chr19 42745134 42777531 Gain and loss Pancreatic cancer SNP array 17952125 ERF,GSK3A chr19 42745134 42777531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERF,GSK3A chr19 4275041 4289847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHD chr19 4275041 4289847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHD chr19 4275041 4293783 Gain and loss Pancreatic cancer SNP array 17952125 SHD,TMIGD2 chr19 42754556 42754610 Gain and loss Pancreatic cancer SNP array 17952125 ERF chr19 42754556 42754610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERF chr19 42754611 42754654 Gain and loss Pancreatic cancer SNP array 17952125 ERF chr19 42754611 42754654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERF chr19 42754929 42754991 Gain and loss Pancreatic cancer SNP array 17952125 ERF chr19 42754929 42754991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERF chr19 42755378 42755435 Gain and loss Pancreatic cancer SNP array 17952125 ERF chr19 42755378 42755435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERF chr19 42755436 42755504 Gain and loss Pancreatic cancer SNP array 17952125 ERF chr19 42755436 42755504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERF chr19 42758994 42759063 Gain and loss Pancreatic cancer SNP array 17952125 ERF chr19 42758994 42759063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERF chr19 42777571 42796834 Gain and loss Pancreatic cancer SNP array 17952125 CIC chr19 42777622 42796834 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CIC chr19 42777622 42796834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIC chr19 42777622 42796834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIC chr19 42815229 42838153 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MEGF8,TMEM145 chr19 42815229 42838153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEGF8,TMEM145 chr19 42815229 42838153 Gain and loss Pancreatic cancer SNP array 17952125 MEGF8,TMEM145 chr19 42815229 42838153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF8,TMEM145 chr19 42821095 42821195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM145 chr19 42850489 42874992 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 MEGF8 chr19 42850495 42874992 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MEGF8 chr19 42850495 42874992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEGF8 chr19 42850495 42874992 Gain and loss Pancreatic cancer SNP array 17952125 MEGF8 chr19 42850495 42874992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF8 chr19 42874429 42874513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEGF8 chr19 42876027 42876305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEGF8 chr19 42879109 42902531 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNFN,LOC100996307,MEGF8 chr19 42879114 42902531 Gain and loss Pancreatic cancer SNP array 17952125 CNFN,LOC100996307,MEGF8 chr19 42879116 42902531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNFN,LOC100996307,MEGF8 chr19 42879116 42902531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNFN,LOC100996307,MEGF8 chr1 94291271 94291325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAR3 chr19 42921043 42956232 Gain and loss Pancreatic cancer SNP array 17952125 CXCL17,LIPE,LOC100996307 chr19 42921043 42999780 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CXCL17,LIPE,LOC100996307 chr19 42921043 42999780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CXCL17,LIPE,LOC100996307 chr19 42921043 42999780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CXCL17,LIPE,LOC100996307 chr19 42921103 43594103 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 CEACAM1,CEACAM8,CXCL17,LIPE,LOC100289650,LOC100996307,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG6,PSG7,PSG8 chr19 4294551 4311078 Gain and loss Pancreatic cancer SNP array 17952125 FSD1,TMIGD2 chr19 4294556 4311060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSD1,TMIGD2 chr19 4294556 4311060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSD1,TMIGD2 chr19 4294575 4311075 Gain or loss Breast cancer - 20668451 FSD1,TMIGD2 chr19 4294575 4311075 Gain or loss Cancer - 20668451 FSD1,TMIGD2 chr19 4294575 4311075 Gain or loss Lung cancer - 20668451 FSD1,TMIGD2 chr19 4294575 4311075 Gain or loss Ovarian cancer - 20668451 FSD1,TMIGD2 chr19 4294575 4311075 Gain or loss Pancreas cancer - 20668451 FSD1,TMIGD2 chr19 4294575 4311075 Gain or loss Prostate cancer - 20668451 FSD1,TMIGD2 chr19 42985486 42986508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100996307 chr19 42985486 42986508 Gain and loss Pancreatic cancer SNP array 17952125 LOC100996307 chr19 42985486 42986508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100996307 chr19 43033162 43037303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100996307 chr19 43033392 43037198 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100996307 chr19 43035678 43036926 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100996307 chr19 4305001 4329000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FSD1,STAP2 chr19 43071983 43089157 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM8,LOC100996307 chr19 43071983 43089157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM8,LOC100996307 chr19 43071983 43089157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM8,LOC100996307 chr19 43075578 43077618 Gain and loss Pancreatic cancer SNP array 17952125 LOC100996307 chr19 43078996 43079050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100996307 chr19 43089708 43390849 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM8,LOC100289650,LOC100996307,PSG1,PSG10P,PSG3,PSG8 chr19 43089708 43390849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM8,LOC100289650,LOC100996307,PSG1,PSG10P,PSG3,PSG8 chr19 43089708 43390849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM8,LOC100289650,LOC100996307,PSG1,PSG10P,PSG3,PSG8 chr19 43089729 43265106 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM8,LOC100996307,PSG3,PSG8 chr19 43090000 43930000 Loss Breast cancer aCGH 21509527 CD177,CEACAM8,LOC100289650,LOC100996307,LOC284344,PRG1,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,TEX101 chr19 4311366 4351471 Gain or loss Breast cancer - 20668451 FSD1,MPND,STAP2 chr19 4311366 4351471 Gain or loss Cancer - 20668451 FSD1,MPND,STAP2 chr19 4311366 4351471 Gain or loss Lung cancer - 20668451 FSD1,MPND,STAP2 chr19 4311366 4351471 Gain or loss Ovarian cancer - 20668451 FSD1,MPND,STAP2 chr19 4311366 4351471 Gain or loss Pancreas cancer - 20668451 FSD1,MPND,STAP2 chr19 4311366 4351471 Gain or loss Prostate cancer - 20668451 FSD1,MPND,STAP2 chr19 4311367 4313655 Amplification or deletion Cancer Array CGH 17440070 FSD1 chr19 4311368 4351471 Gain and loss Pancreatic cancer SNP array 17952125 FSD1,MPND,STAP2 chr19 4311370 4351496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSD1,MPND,STAP2 chr19 4311370 4351496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSD1,MPND,STAP2 chr19 43155501 43875000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD177,LOC100289650,LOC100996307,LOC284344,PRG1,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9 chr19 43158201 43158301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 43177306 45393020 Amplification Cancer Affymetrix 250K Sty array 20164920 BCAM,BCL3,CADM4,CBLC,CD177,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,ETHE1,IGSF23,IRGC,IRGQ,KCNN4,LOC100289650,LOC100379224,LOC100505715,LOC284344,LYPD3,LYPD5,MIR4531,PHLDB3,PINLYP,PLAUR,PRG1,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PVR,PVRL2,SMG9,SRRM5,TEX101,XRCC1,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr1 9432033 9432103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43236358 43236445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG3 chr19 43265284 43390846 Gain and loss Pancreatic cancer SNP array 17952125 LOC100289650,PSG1,PSG10P,PSG8 chr1 94328997 94329096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 4329001 4394500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MPND,SH3GL1,STAP2 chr19 43364676 43599425 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 PSG1,PSG11,PSG2,PSG6,PSG7 chr19 43382714 43383012 Gain and loss Pancreatic cancer SNP array 17952125 PSG1 chr19 43382714 43383012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG1 chr19 43394182 43420994 Copy number Autism Illumina Humanhap300 Beadchips 19492091 PSG6 chr19 43394182 43420994 Gain and loss Pancreatic cancer SNP array 17952125 PSG6 chr19 43394217 43406628 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSG6 chr19 43394217 43406628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSG6 chr19 43394217 43406628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG6 chr19 43397359 43996631 LOH Normal High-resolution SNP genotyping 21211785 CD177,LOC284344,LYPD3,PHLDB3,PRG1,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,TEX101 chr19 43400000 45200000 Deletion Myelodysplastic syndrome 50K HindIII (50K), 250K StyI (250K), or 250K NspI+250K StyI (500K) SNP microarray chips 17634407 CADM4,CD177,CEACAM19,CEACAM20,CEACAM22P,ETHE1,IGSF23,IRGC,IRGQ,KCNN4,LOC100379224,LOC100505715,LOC284344,LYPD3,LYPD5,MIR4531,PHLDB3,PINLYP,PLAUR,PRG1,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PVR,SMG9,SRRM5,TEX101,XRCC1,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 45200000 Gain and amplification Multiple myeloma Array CGH 16616336 CADM4,CD177,CEACAM19,CEACAM20,CEACAM22P,ETHE1,IGSF23,IRGC,IRGQ,KCNN4,LOC100379224,LOC100505715,LOC284344,LYPD3,LYPD5,MIR4531,PHLDB3,PINLYP,PLAUR,PRG1,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PVR,SMG9,SRRM5,TEX101,XRCC1,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 45200000 Gain Basal cell lymphoma Array CGH 19029149 CADM4,CD177,CEACAM19,CEACAM20,CEACAM22P,ETHE1,IGSF23,IRGC,IRGQ,KCNN4,LOC100379224,LOC100505715,LOC284344,LYPD3,LYPD5,MIR4531,PHLDB3,PINLYP,PLAUR,PRG1,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PVR,SMG9,SRRM5,TEX101,XRCC1,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 45200000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 CADM4,CD177,CEACAM19,CEACAM20,CEACAM22P,ETHE1,IGSF23,IRGC,IRGQ,KCNN4,LOC100379224,LOC100505715,LOC284344,LYPD3,LYPD5,MIR4531,PHLDB3,PINLYP,PLAUR,PRG1,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PVR,SMG9,SRRM5,TEX101,XRCC1,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Amplification Ovarian cancer BAC clone 20800559 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Amplification Ovarian clear cell carcinoma FISH 19293255 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Copy number Breast cancer BAC array 16272173 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Copy number Spondylocostal dysostosis high-resolution SNP arrays 21085971 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Deletion or duplication Nicotine metabolism References 21956041 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Gain Ovarian cancer Affymetrix 20844748 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 47800000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 48000000 Loss Breast cancer Microarray-based CGH 17133270 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,C5AR1,CADM4,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD177,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DHX34,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,ETHE1,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,GPR77,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IRF2BP1,IRGC,IRGQ,KCNN4,KLC3,KPTN,LOC100287177,LOC100379224,LOC100505715,LOC284344,LOC388553,LYPD3,LYPD5,MARK4,MEIS3,MIR3190,MIR3191,MIR320E,MIR330,MIR4531,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NAPA,NAPA-AS1,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PHLDB3,PINLYP,PLAUR,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRR24,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PVR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SLC8A2,SMG9,SNAR-E,SNRPD2,SRRM5,STRN4,SYMPK,TEX101,TMEM160,TOMM40,TRAPPC6A,VASP,XRCC1,ZC3H4,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF575,ZNF576 chr19 43400000 51400000 Deletion Hepatocellular carcinoma Array CGH 16750200 ACPT,AKT1S1,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ASPDH,ATF5,BAX,BBC3,BCAM,BCAT2,BCL2L12,BCL3,BLOC1S3,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CADM4,CALM3,CARD8,CBLC,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CD177,CD37,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CKM,CLASRP,CLEC11A,CLPTM1,CPT1C,CRX,CYTH2,DACT3,DACT3-AS1,DBP,DHDH,DHX34,DKFZp434J0226,DKKL1,DMPK,DMWD,EHD2,ELSPBP1,EMC10,EML2,EMP3,ERCC1,ERCC2,ETHE1,EXOC3L2,FAM71E1,FAM83E,FBXO46,FCGRT,FGF21,FKRP,FLJ26850,FLT3LG,FOSB,FOXA3,FTL,FUT1,FUT2,FUZ,GEMIN7,GIPR,GLTSCR1,GLTSCR2,GNG8,GPR32,GPR4,GPR77,GRIN2D,GRWD1,GYS1,HIF3A,HRC,HSD17B14,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNN4,KDELR1,KLC3,KLK1,KLK15,KLK2,KLK3,KLKP1,KPTN,LHB,LIG1,LIN7B,LMTK3,LOC100287177,LOC100379224,LOC100505715,LOC100505812,LOC100507003,LOC284344,LOC388553,LRRC4B,LYPD3,LYPD5,MAMSTR,MARK4,MED25,MEIS3,MGC45922,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR4324,MIR4531,MIR4749,MIR4750,MIR4751,MIR5088,MIR642A,MIR642B,MIR769,MYBPC2,MYH14,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NKPD1,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OPA3,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLEKHA4,PNKP,PNMAL1,PNMAL2,POLD1,PPFIA3,PPM1N,PPP1R13L,PPP1R15A,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRMT1,PRR12,PRR24,PRRG2,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PTH2,PTOV1,PTOV1-AS1,PVR,PVRL2,QPCTL,RASIP1,RCN3,RELB,RNU6-66,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RSPH6A,RTN2,RUVBL2,SAE1,SCAF1,SEC1P,SEPW1,SHANK1,SIGLEC11,SIGLEC16,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPD2,SPACA4,SPHK2,SPIB,SRRM5,STRN4,SULT2A1,SULT2B1,SYMPK,SYNGR4,SYT3,TBC1D17,TEAD2,TEX101,TMEM143,TMEM160,TOMM40,TPRX1,TRAPPC6A,TRPM4,TSKS,TULP2,VASP,VRK3,XRCC1,ZC3H4,ZFP112,ZNF114,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF473,ZNF541,ZNF575,ZNF576 chr19 43400000 51400000 Gain Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 ACPT,AKT1S1,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ASPDH,ATF5,BAX,BBC3,BCAM,BCAT2,BCL2L12,BCL3,BLOC1S3,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CADM4,CALM3,CARD8,CBLC,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CD177,CD37,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CKM,CLASRP,CLEC11A,CLPTM1,CPT1C,CRX,CYTH2,DACT3,DACT3-AS1,DBP,DHDH,DHX34,DKFZp434J0226,DKKL1,DMPK,DMWD,EHD2,ELSPBP1,EMC10,EML2,EMP3,ERCC1,ERCC2,ETHE1,EXOC3L2,FAM71E1,FAM83E,FBXO46,FCGRT,FGF21,FKRP,FLJ26850,FLT3LG,FOSB,FOXA3,FTL,FUT1,FUT2,FUZ,GEMIN7,GIPR,GLTSCR1,GLTSCR2,GNG8,GPR32,GPR4,GPR77,GRIN2D,GRWD1,GYS1,HIF3A,HRC,HSD17B14,IGFL1,IGFL2,IGFL3,IGFL4,IGSF23,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNN4,KDELR1,KLC3,KLK1,KLK15,KLK2,KLK3,KLKP1,KPTN,LHB,LIG1,LIN7B,LMTK3,LOC100287177,LOC100379224,LOC100505715,LOC100505812,LOC100507003,LOC284344,LOC388553,LRRC4B,LYPD3,LYPD5,MAMSTR,MARK4,MED25,MEIS3,MGC45922,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR4324,MIR4531,MIR4749,MIR4750,MIR4751,MIR5088,MIR642A,MIR642B,MIR769,MYBPC2,MYH14,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NKPD1,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OPA3,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLEKHA4,PNKP,PNMAL1,PNMAL2,POLD1,PPFIA3,PPM1N,PPP1R13L,PPP1R15A,PPP1R37,PPP5C,PPP5D1,PRG1,PRKD2,PRMT1,PRR12,PRR24,PRRG2,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PTH2,PTOV1,PTOV1-AS1,PVR,PVRL2,QPCTL,RASIP1,RCN3,RELB,RNU6-66,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RSPH6A,RTN2,RUVBL2,SAE1,SCAF1,SEC1P,SEPW1,SHANK1,SIGLEC11,SIGLEC16,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPD2,SPACA4,SPHK2,SPIB,SRRM5,STRN4,SULT2A1,SULT2B1,SYMPK,SYNGR4,SYT3,TBC1D17,TEAD2,TEX101,TMEM143,TMEM160,TOMM40,TPRX1,TRAPPC6A,TRPM4,TSKS,TULP2,VASP,VRK3,XRCC1,ZC3H4,ZFP112,ZNF114,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF428,ZNF45,ZNF473,ZNF541,ZNF575,ZNF576 chr19 43400000 63811651 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ASPDH,ATF5,AURKC,BAX,BBC3,BCAM,BCAT2,BCL2L12,BCL3,BIRC8,BLOC1S3,BRSK1,BSPH1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CADM4,CALM3,CARD8,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CD177,CD33,CD37,CD3EAP,CDC42EP5,CEACAM16,CEACAM18,CEACAM19,CEACAM20,CEACAM22P,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CKM,CLASRP,CLDND2,CLEC11A,CLPTM1,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DACT3,DACT3-AS1,DBP,DHDH,DHX34,DKFZp434J0226,DKKL1,DMPK,DMWD,DNAAF3,DPRX,DUXA,EHD2,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERVV-1,ERVV-2,ETFB,ETHE1,EXOC3L2,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FBXO46,FCAR,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GIPR,GLTSCR1,GLTSCR2,GNG8,GP6,GPR32,GPR4,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HIF3A,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IGSF23,IL11,IL4I1,IRF2BP1,IRF3,IRGC,IRGQ,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KCNN4,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287177,LOC100287534,LOC100379224,LOC100505715,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284344,LOC284379,LOC388553,LOC646862,LRRC4B,LYPD3,LYPD5,MAMSTR,MARK4,MBOAT7,MED25,MEIS3,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4531,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OPA3,OSCAR,PEG3,PEG3-AS1,PGLYRP1,PHLDB3,PIH1D1,PINLYP,PLA2G4C,PLAUR,PLEKHA4,PNKP,PNMAL1,PNMAL2,POLD1,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRG1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR24,PRRG2,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVR,PVRL2,QPCTL,RASIP1,RCN3,RDH13,RELB,RFPL4A,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,SAE1,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SMG9,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPD2,SPACA4,SPHK2,SPIB,SRRM5,SSC5D,STRN4,SULT2A1,SULT2B1,SUV420H2,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TEX101,TFPT,TMC4,TMEM143,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,XRCC1,ZBTB45,ZC3H4,ZFP112,ZFP28,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF155,ZNF160,ZNF17,ZNF175,ZNF180,ZNF211,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF256,ZNF264,ZNF274,ZNF28,ZNF283,ZNF284,ZNF285,ZNF296,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF404,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF428,ZNF432,ZNF444,ZNF446,ZNF45,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF541,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF575,ZNF576,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr1 94340294 94340971 Gain and loss Pancreatic cancer SNP array 17952125 DNTTIP2 chr19 43433716 43439012 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 PSG7 chr19 43433716 43439012 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PSG7 chr19 43433716 43439012 Gain or loss Breast cancer - 20668451 PSG7 chr19 43433716 43439012 Gain or loss Cancer - 20668451 PSG7 chr19 43433716 43439012 Gain or loss Lung cancer - 20668451 PSG7 chr19 43433716 43439012 Gain or loss Ovarian cancer - 20668451 PSG7 chr19 43433716 43439012 Gain or loss Pancreas cancer - 20668451 PSG7 chr19 43433716 43439012 Gain or loss Prostate cancer - 20668451 PSG7 chr19 43433717 43439071 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSG7 chr19 43433717 43439071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSG7 chr19 43433717 43439071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG7 chr19 43433725 43439012 Copy number Autism Illumina Humanhap300 Beadchips 19492091 PSG7 chr19 43433725 43439012 Gain and loss Pancreatic cancer SNP array 17952125 PSG7 chr19 43445545 43987384 LOH Normal High-resolution SNP genotyping 21211785 CD177,LOC284344,LYPD3,PHLDB3,PRG1,PSG11,PSG2,PSG4,PSG5,PSG9,TEX101 chr19 43447007 43474927 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43447042 43474948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43447042 43474948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43447062 43474948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43447250 43474812 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 43477024 43477114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43477024 43477116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43477025 43477113 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43486641 43487489 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43486641 43487489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43486644 43487486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43486931 43487359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43487584 43498446 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43487584 43498446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43487584 43498446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43487593 43498400 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr19 43487593 43498400 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 94349915 94425347 Gain and loss Pancreatic cancer SNP array 17952125 GCLM chr19 43502322 43511480 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43502322 43511480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43502322 43511480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43502322 43511480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4351601 9917600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACER1,ACSBG2,ACTL9,ADAMTS10,ALKBH7,ANGPTL4,ARHGEF18,ARRDC5,C19orf10,C19orf45,C19orf59,C19orf70,C3,CAMSAP3,CAPS,CATSPERD,CCL25,CD209,CD320,CD70,CERS4,CHAF1A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CRB3,CTXN1,DENND1C,DPP9,DUS3L,ELAVL1,EMR1,EMR4P,EVI5L,FBN3,FCER2,FEM1A,FLJ22184,FLJ25758,FUT3,FUT5,FUT6,GPR108,GTF2F1,HDGFRP2,HNRNPM,HSD11B1L,INSR,KANK3,KDM4B,KHSRP,LOC100128568,LOC100128573,LOC100131094,LOC284385,LOC388499,LONP1,LRG1,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR3940,MIR4746,MIR4747,MIR4999,MIR7-3,MIR7-3HG,MLLT1,MPND,MUC16,MYO1F,NDUFA11,NDUFA7,NRTN,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,PCP2,PET100,PEX11G,PLAC2,PLIN3,PLIN4,PLIN5,PNPLA6,PRAM1,PRR22,PSPN,PTPRS,RAB11B,RAB11B-AS1,RANBP3,RETN,RFX2,RPL36,RPS28,SAFB,SAFB2,SEMA6B,SH2D3A,SH3GL1,SLC25A23,SLC25A41,SNAPC2,STXBP2,TGFBR3L,TICAM1,TIMM44,TNFAIP8L1,TNFSF14,TNFSF9,TRAPPC5,TRIP10,TUBB4A,UBXN6,UHRF1,VAV1,VMAC,XAB2,ZNF121,ZNF177,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF699,ZNF812,ZNF846,ZNRF4 chr19 43518255 43553423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSG11 chr19 43518255 43553423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG11 chr19 43518298 43553422 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSG11 chr19 43518298 43553422 Gain and loss Pancreatic cancer SNP array 17952125 PSG11 chr19 4353659 4394394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPND,SH3GL1 chr19 4353659 4394394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPND,SH3GL1 chr19 4353661 4394125 Gain and loss Pancreatic cancer SNP array 17952125 MPND,SH3GL1 chr19 435530 435619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHC2 chr19 43557016 43566304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43557016 43566304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43557061 43566303 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43557061 43566303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43557200 43566216 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 43563848 43595558 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PSG2 chr19 43566745 43570508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSG2 chr19 43566745 43570508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSG2 chr19 43566745 43570508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG2 chr19 43566831 43570508 Increased Primary Severe Spermatogenic Failure automated sequencing 20378930 PSG2 chr19 43566832 43570508 Gain and loss Pancreatic cancer SNP array 17952125 PSG2 chr19 43572779 43578711 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSG2 chr19 43572779 43578711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSG2 chr19 43572779 43578711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG2 chr19 43572783 43578457 Gain and loss Pancreatic cancer SNP array 17952125 PSG2 chr19 43585615 43591568 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSG2 chr19 43585615 43591568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSG2 chr19 43585615 43591568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG2 chr19 43585626 43591568 Gain and loss Pancreatic cancer SNP array 17952125 PSG2 chr19 43591537 43608785 Copy number Lung cancer - 20668451 NOT_FOUND chr19 43591537 43608785 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 43591537 43608785 Gain or loss Cancer - 20668451 NOT_FOUND chr19 43591537 43608785 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 43591537 43608785 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 43591537 43608785 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 43591537 43608785 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 43591538 43608785 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43591538 43608785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43591538 43608785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43591538 43608785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43616179 43770044 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LOC284344,PSG4,PSG5,PSG9 chr19 43616180 43770012 Gain and loss Pancreatic cancer SNP array 17952125 LOC284344,PSG4,PSG5,PSG9 chr19 43616180 43770044 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC284344,PSG4,PSG5,PSG9 chr19 43616180 43770044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284344,PSG4,PSG5,PSG9 chr19 43616180 43770044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284344,PSG4,PSG5,PSG9 chr19 43657587 43692049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSG5 chr19 43726860 43751854 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC284344 chr19 43770120 43800483 Gain or loss Breast cancer - 20668451 PSG9 chr19 43770120 43800483 Gain or loss Cancer - 20668451 PSG9 chr19 43770120 43800483 Gain or loss Lung cancer - 20668451 PSG9 chr19 43770120 43800483 Gain or loss Ovarian cancer - 20668451 PSG9 chr19 43770120 43800483 Gain or loss Pancreas cancer - 20668451 PSG9 chr19 43770120 43800483 Gain or loss Prostate cancer - 20668451 PSG9 chr19 43770121 43800483 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSG9 chr19 43770121 43800483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSG9 chr19 43770121 43800483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSG9 chr19 43771653 43800375 Gain and loss Pancreatic cancer SNP array 17952125 PSG9 chr19 43801562 43819435 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43801562 43819435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43801562 43819435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43801577 43819433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43806612 43819425 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 NOT_FOUND chr19 4381175 4381207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3GL1 chr19 43830167 43913010 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CD177,PRG1,TEX101 chr19 43830167 43913010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD177,PRG1,TEX101 chr19 43830167 43913010 Gain and loss Pancreatic cancer SNP array 17952125 CD177,PRG1,TEX101 chr19 43830167 43913010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD177,PRG1,TEX101 chr19 43830180 43912972 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 CD177,PRG1,TEX101 chr1 94386 111664830 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AADACL3,AADACL4,ABCA4,ABCD3,ACADM,ACAP3,ACOT11,ACOT7,ACTG1P4,ACTL8,ACTRT2,ADC,ADPRHL2,AGBL4,AGL,AGMAT,AGRN,AGTRAP,AHCYL1,AHDC1,AIM1L,AJAP1,AK2,AK4,AK5,AKIRIN1,AKNAD1,AKR1A1,AKR7A2,AKR7A3,AKR7L,ALDH4A1,ALG14,ALG6,ALPL,ALX3,AMIGO1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ANGPTL3,ANGPTL7,ANKRD13C,ANKRD65,APITD1,APITD1-CORT,ARHGAP29,ARHGEF10L,ARHGEF16,ARHGEF19,ARID1A,ARTN,ASAP3,ASB17,ATAD3A,ATAD3B,ATAD3C,ATG4C,ATP13A2,ATP6V0B,ATPAF1,ATPAF1-AS1,ATPIF1,ATXN7L2,AUNIP,AURKAIP1,B3GALT6,B4GALT2,BAI2,BARHL2,BCAR3,BCL10,BEND5,BEST4,BMP8A,BMP8B,BRDT,BSDC1,BSND,BTBD19,BTBD8,BTF3L4,C1QA,C1QB,C1QC,C1orf109,C1orf122,C1orf123,C1orf126,C1orf127,C1orf141,C1orf146,C1orf151-NBL1,C1orf158,C1orf159,C1orf168,C1orf170,C1orf172,C1orf173,C1orf174,C1orf177,C1orf180,C1orf185,C1orf194,C1orf200,C1orf210,C1orf212,C1orf213,C1orf216,C1orf228,C1orf233,C1orf50,C1orf52,C1orf63,C1orf64,C1orf86,C1orf87,C1orf94,C8A,C8B,CA6,CACHD1,CALML6,CAMK2N1,CAMTA1,CAP1,CAPZB,CASP9,CASZ1,CATSPER4,CC2D1B,CCBL2,CCDC163P,CCDC17,CCDC18,CCDC23,CCDC24,CCDC27,CCDC28B,CCDC30,CCNL2,CD164L2,CD52,CD53,CDA,CDC14A,CDC20,CDC42,CDC7,CDCA8,CDCP2,CDK11A,CDK11B,CDKN2C,CELA2A,CELA2B,CELA3A,CELA3B,CELSR2,CEP104,CEP85,CHD5,CITED4,CLCA1,CLCA2,CLCA3P,CLCA4,CLCC1,CLCN6,CLCNKA,CLCNKB,CLDN19,CLIC4,CLSPN,CLSTN1,CMPK1,CNKSR1,CNN3,CNR2,COL11A1,COL16A1,COL24A1,COL8A2,COL9A2,CORT,CPSF3L,CPT2,CROCC,CROCCP2,CROCCP3,CRYZ,CSF1,CSF3R,CSMD2,CTBS,CTH,CTNNBIP1,CTPS1,CTRC,CYB561D1,CYB5RL,CYMP,CYP2J2,CYP4A11,CYP4A22,CYP4B1,CYP4X1,CYP4Z1,CYP4Z2P,CYR61,DAB1,DBT,DCDC2B,DDAH1,DDI2,DDOST,DEM1,DEPDC1,DFFA,DFFB,DHCR24,DHDDS,DHRS3,DIO1,DIRAS3,DLEU2L,DLGAP3,DMAP1,DMBX1,DMRTA2,DMRTB1,DNAJA1P5,DNAJB4,DNAJC11,DNAJC16,DNAJC6,DNAJC8,DNALI1,DNASE2B,DNTTIP2,DOCK7,DPH2,DPH5,DPYD,DPYD-AS1,DR1,DRAM2,DRAXIN,DVL1,E2F2,EBNA1BP2,ECE1,ECHDC2,EDN2,EFCAB7,EFHD2,EIF2B3,EIF2C1,EIF2C3,EIF2C4,EIF3I,EIF4G3,ELAVL4,ELOVL1,ELTD1,EMC1,ENO1,ENO1-AS1,EPB41,EPHA10,EPHA2,EPHA8,EPHB2,EPHX4,EPS15,EPS8L3,ERI3,ERMAP,ERRFI1,ESPN,ESPNP,EVI5,EXOSC10,EXTL1,EXTL2,EYA3,F3,FAAH,FABP3,FAF1,FAM102B,FAM110D,FAM131C,FAM132A,FAM151A,FAM159A,FAM167B,FAM176B,FAM183A,FAM213B,FAM40A,FAM41C,FAM43B,FAM46B,FAM54B,FAM69A,FAM73A,FAM76A,FBLIM1,FBXO2,FBXO42,FBXO44,FBXO6,FCN3,FGGY,FGR,FHAD1,FHL3,FLJ27354,FLJ31662,FLJ37453,FLJ42875,FNBP1L,FNDC5,FNDC7,FOXD2,FOXD2-AS1,FOXD3,FOXE3,FOXJ3,FPGT,FPGT-TNNI3K,FRRS1,FUBP1,FUCA1,GABRD,GADD45A,GALE,GBP1,GBP1P1,GBP2,GBP3,GBP4,GBP5,GBP6,GBP7,GCLM,GEMIN8P4,GFI1,GIPC2,GJA4,GJA9,GJA9-MYCBP,GJB3,GJB4,GJB5,GLIS1,GLMN,GLTPD1,GMEB1,GNAI3,GNAT2,GNB1,GNG12,GNG12-AS1,GNG5,GNL2,GPATCH3,GPBP1L1,GPN2,GPR153,GPR157,GPR3,GPR61,GPR88,GPSM2,GPX7,GRHL3,GRIK3,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,GTF2B,GUCA2A,GUCA2B,H6PD,HCRTR1,HDAC1,HEATR8,HEATR8-TTC4,HECTD3,HENMT1,HES2,HES3,HES4,HES5,HEYL,HFM1,HHLA3,HIAT1,HIVEP3,HMGB4,HMGCL,HMGN2,HNRNPCL1,HNRNPR,HOOK1,HP1BP3,HPCA,HPCAL4,HPDL,HS2ST1,HSD52,HSP90B3P,HSPB11,HSPB7,HSPG2,HTR1D,HTR6,HYI,ICMT,ID3,IFFO2,IFI44,IFI44L,IFI6,IGSF21,IL12RB2,IL22RA1,IL23R,IL28RA,INADL,INPP5B,INSL5,IPO13,IPP,IQCC,ISG15,ITGB3BP,JAK1,JUN,KANK4,KAZN,KCNA10,KCNA2,KCNA3,KCNAB2,KCNC4,KCNQ4,KDM1A,KDM4A,KDM4A-AS1,KHDRBS1,KIAA0319L,KIAA0494,KIAA0494-AS1,KIAA0754,KIAA1107,KIAA1324,KIAA1522,KIAA1751,KIAA2013,KIF17,KIF1B,KIF2C,KLF17,KLHDC7A,KLHL17,KLHL21,KNCN,KPNA6,KTI12,L1TD1,LAMTOR5,LAPTM5,LCK,LDLRAD1,LDLRAD2,LDLRAP1,LEPR,LEPRE1,LEPROT,LHX8,LIN28A,LINC00115,LINC00339,LINC00466,LMO4,LOC100128071,LOC100128787,LOC100129046,LOC100129138,LOC100129534,LOC100129620,LOC100129924,LOC100130417,LOC100130557,LOC100131060,LOC100131564,LOC100132062,LOC100132287,LOC100133331,LOC100133445,LOC100133612,LOC100288069,LOC100505768,LOC100506730,LOC100506801,LOC100506963,LOC100507564,LOC100507634,LOC115110,LOC148413,LOC149086,LOC254099,LOC284551,LOC284632,LOC284661,LOC339442,LOC339505,LOC339524,LOC400752,LOC402779,LOC440563,LOC440600,LOC643837,LOC644961,LOC646471,LOC646626,LOC649330,LOC653160,LOC728431,LOC728716,LOC729041,LOC729059,LOC729737,LOC729970,LOC729987,LPAR3,LPHN2,LPPR4,LPPR5,LRIF1,LRP8,LRRC38,LRRC39,LRRC40,LRRC41,LRRC42,LRRC47,LRRC7,LRRC8B,LRRC8C,LRRC8D,LRRIQ3,LSM10,LURAP1,LUZP1,LYPLA2,LZIC,MACF1,MAD2L2,MAGOH,MAN1C1,MANEAL,MAP3K6,MAP7D1,MARCKSL1,MASP2,MAST2,MATN1,MATN1-AS1,MCOLN2,MCOLN3,MDS2,MEAF6,MECR,MED18,MED8,MEGF6,MFAP2,MFN2,MFSD2A,MGC27382,MIB2,MIER1,MIIP,MINOS1,MIR101-1,MIR1262,MIR137,MIR137HG,MIR186,MIR197,MIR1976,MIR200A,MIR200B,MIR2682,MIR30C1,MIR30E,MIR3115,MIR3117,MIR34A,MIR3605,MIR3659,MIR3671,MIR3675,MIR378F,MIR3917,MIR4251,MIR4252,MIR4253,MIR4254,MIR4255,MIR429,MIR4417,MIR4420,MIR4422,MIR4423,MIR4632,MIR4684,MIR4689,MIR4695,MIR4711,MIR4781,MIR4794,MIR548AA1,MIR548AP,MIR548D1,MIR551A,MIR553,MIR5581,MIR5584,MIR760,MIR761,MKNK1,MKNK1-AS1,MMACHC,MMEL1,MMP23A,MMP23B,MOB3C,MORN1,MPL,MRPL20,MRPL37,MRPS15,MRTO4,MSH4,MST1P2,MST1P9,MTF1,MTF2,MTHFR,MTMR9LP,MTOR,MTOR-AS1,MUL1,MUTYH,MXRA8,MYBPHL,MYCBP,MYCL1,MYOM3,MYSM1,NADK,NASP,NBL1,NBPF1,NBPF3,NBPF4,NBPF6,NCDN,NCMAP,NDUFS5,NECAP2,NEGR1,NEGR1-IT1,NEXN,NFIA,NFYC,NIPAL3,NKAIN1,NMNAT1,NOC2L,NOL9,NPHP4,NPPA,NPPA-AS1,NPPB,NR0B2,NRD1,NSUN4,NT5C1A,NTNG1,NUDC,ODF2L,OLFM3,OMA1,OPRD1,OR4F16,OR4F29,OR4F3,ORC1,OSBPL9,OSCP1,OTUD3,OXCT2,PABPC4,PADI1,PADI2,PADI3,PADI4,PADI6,PAFAH2,PALMD,PANK4,PAQR7,PARK7,PARS2,PAX7,PCSK9,PDE4B,PDIK1L,PDPN,PDZK1IP1,PDZK1IP1-AS1,PEF1,PER3,PEX10,PEX14,PGD,PGM1,PHACTR4,PHC2,PHF13,PIGK,PIGV,PIK3CD,PIK3R3,PIN1P1,PINK1,PITHD1,PKN2,PLA2G2A,PLA2G2C,PLA2G2D,PLA2G2E,PLA2G2F,PLA2G5,PLCH2,PLEKHG5,PLEKHM2,PLEKHN1,PLK3,PLOD1,PNRC2,PODN,POMGNT1,POU3F1,PPAP2B,PPCS,PPIE,PPIEL,PPIH,PPP1R8,PPT1,PQLC2,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9,PRDM16,PRDM2,PRDX1,PRKAA2,PRKACB,PRKCZ,PRMT6,PROK1,PRPF38A,PRPF38B,PSMA5,PSMB2,PSRC1,PTAFR,PTBP2,PTCH2,PTCHD2,PTGER3,PTGFR,PTP4A2,PTPRF,PTPRU,PUM1,PUSL1,RAB3B,RAB42,RABGGTB,RAD54L,RAP1GAP,RAVER2,RBBP4,RBM15,RBMXL1,RBP7,RCAN3,RCAN3AS,RCC1,RCC2,RER1,RERE,RHBDL2,RHCE,RHD,RIMKLA,RIMS3,RLF,RNF11,RNF186,RNF19B,RNF207,RNF220,RNF223,RNPC3,RNU11,RNU6-6,ROR1,RPA2,RPAP2,RPE65,RPF1,RPL11,RPL22,RPL5,RPS15AP10,RPS6KA1,RPS8,RRAGC,RSC1A1,RSG1,RSPO1,RTCA,RUNX3,RWDD3,S100PBP,S1PR1,SAMD11,SAMD13,SARS,SASS6,SCARNA1,SCARNA2,SCMH1,SCNN1D,SCP2,SDC3,SDF4,SDHB,SELRC1,SEP15,SEPN1,SERBP1,SERINC2,SESN2,SF3A3,SFN,SFPQ,SGIP1,SH2D5,SH3BGRL3,SH3D21,SH3GLB1,SKI,SKINTL,SLC16A4,SLC1A7,SLC25A24,SLC25A33,SLC25A34,SLC25A3P1,SLC2A1,SLC2A1-AS1,SLC2A5,SLC2A7,SLC30A2,SLC30A7,SLC35A3,SLC35D1,SLC35E2,SLC35E2B,SLC44A3,SLC44A5,SLC45A1,SLC5A9,SLC6A17,SLC6A9,SLC9A1,SLFNL1,SLFNL1-AS1,SMAP2,SMIM1,SMPDL3B,SNHG12,SNHG3,SNIP1,SNORA16A,SNORA44,SNORA55,SNORA59A,SNORA59B,SNORA61,SNORA66,SNORD103A,SNORD103B,SNORD21,SNORD38A,SNORD38B,SNORD45A,SNORD45B,SNORD45C,SNORD46,SNORD55,SNORD85,SNORD99,SNRNP40,SNX7,SORT1,SPATA21,SPATA6,SPEN,SPOCD1,SPSB1,SRG7,SRM,SRRM1,SRSF10,SRSF11,SRSF4,SSBP3,SSU72,SSX2IP,ST3GAL3,ST6GALNAC3,ST6GALNAC5,STIL,STK40,STMN1,STPG1,STX12,STXBP3,SYDE2,SYF2,SYNC,SYPL2,SYTL1,SZRD1,SZT2,TACSTD2,TAF12,TAF13,TAL1,TARDBP,TAS1R1,TAS1R2,TAS1R3,TCEA3,TCEANC2,TCEB3,TCTEX1D1,TCTEX1D4,TEKT2,TESK2,TFAP2E,TGFBR3,THAP3,THEMIS2,THRAP3,TIE1,TINAGL1,TM2D1,TMCO2,TMCO4,TMED5,TMEM125,TMEM167B,TMEM200B,TMEM201,TMEM222,TMEM234,TMEM240,TMEM39B,TMEM48,TMEM50A,TMEM51,TMEM52,TMEM53,TMEM54,TMEM56,TMEM56-RWDD3,TMEM57,TMEM59,TMEM61,TMEM69,TMEM82,TMEM88B,TNFRSF14,TNFRSF18,TNFRSF1B,TNFRSF25,TNFRSF4,TNFRSF8,TNFRSF9,TNNI3K,TOE1,TP73,TP73-AS1,TPRG1L,TRABD2B,TRAPPC3,TRIM62,TRIM63,TRIT1,TRMT13,TRNAU1AP,TRNP1,TSPAN1,TSSK3,TTC22,TTC34,TTC39A,TTC4,TTLL10,TTLL7,TXLNA,TXNDC12,TYW3,UBE2J2,UBE2U,UBE4B,UBIAD1,UBL4B,UBR4,UBXN10,UBXN11,UOX,UQCRH,UQCRHL,UROD,USP1,USP24,USP33,USP48,UTP11L,UTS2,VAMP3,VAV3,VAV3-AS1,VCAM1,VPS13D,VWA1,VWA5B1,WASF2,WDR47,WDR63,WDR65,WDR78,WDTC1,WLS,WNT4,WRAP73,XKR8,YARS,YBX1,YIPF1,YRDC,YTHDF2,ZBTB17,ZBTB40,ZBTB48,ZBTB8A,ZBTB8B,ZBTB8OS,ZC3H12A,ZCCHC11,ZCCHC17,ZDHHC18,ZFYVE9,ZMPSTE24,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB,ZMYND12,ZNF326,ZNF362,ZNF436,ZNF593,ZNF642,ZNF643,ZNF644,ZNF683,ZNF684,ZNF691,ZNHIT6,ZRANB2,ZRANB2-AS1,ZRANB2-AS2,ZSCAN20,ZSWIM5,ZYG11A,ZYG11B,ZZZ3 chr19 43875001 43927000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TEX101 chr1 94389564 94389663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43912672 43926954 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TEX101 chr19 43912672 43926954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEX101 chr19 43912672 43926954 Gain and loss Pancreatic cancer SNP array 17952125 TEX101 chr19 43912672 43926954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX101 chr19 43927001 44337000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CADM4,ETHE1,IRGC,IRGQ,KCNN4,LYPD3,LYPD5,PHLDB3,PINLYP,PLAUR,SMG9,SRRM5,XRCC1,ZNF283,ZNF428,ZNF575,ZNF576 chr19 4394501 4396500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SH3GL1 chr19 43953452 43955989 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43953452 43955989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4396009 4408694 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHAF1A,SH3GL1 chr19 4396009 4408694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHAF1A,SH3GL1 chr19 4396009 4408783 Gain and loss Pancreatic cancer SNP array 17952125 CHAF1A,SH3GL1 chr19 4396501 4454500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHAF1A,MIR4746,SH3GL1,UBXN6 chr19 43965899 43971421 Loss Normal Birdsuite, version 1.5.2 22087296 LYPD3 chr19 43971694 43974232 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 43971694 43974232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43971694 43974232 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 43971694 43974232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 43979482 43979589 Gain and loss Pancreatic cancer SNP array 17952125 PHLDB3 chr19 43979482 43979589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHLDB3 chr19 43984152 43995425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHLDB3 chr19 43984152 43995425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHLDB3 chr19 43984155 43995422 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PHLDB3 chr19 43984155 43995422 Gain and loss Pancreatic cancer SNP array 17952125 PHLDB3 chr19 43997908 44014337 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ETHE1,PHLDB3 chr19 43997908 44014337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ETHE1,PHLDB3 chr19 43997908 44014337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETHE1,PHLDB3 chr19 43997910 44014278 Gain and loss Pancreatic cancer SNP array 17952125 ETHE1,PHLDB3 chr19 43997942 44014245 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ETHE1,PHLDB3 chr19 43999930 44034819 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ETHE1,PHLDB3 chr19 44018869 44034819 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ETHE1 chr19 44018869 44034819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETHE1 chr19 44018883 44032452 Gain and loss Pancreatic cancer SNP array 17952125 ETHE1 chr19 44049286 44049386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XRCC1 chr1 94404990 94436977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 44050310 44060734 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 XRCC1 chr19 44050310 44060734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XRCC1 chr19 44050310 44060734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XRCC1 chr19 44050314 44060734 Gain and loss Pancreatic cancer SNP array 17952125 XRCC1 chr19 44061023 44091810 Copy number loss Normal High-resolution SNP genotyping 21211785 IRGQ,PINLYP,XRCC1 chr19 44061037 44082342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PINLYP,XRCC1 chr19 44061037 44082342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PINLYP,XRCC1 chr19 44061042 44082201 Gain and loss Pancreatic cancer SNP array 17952125 PINLYP,XRCC1 chr19 44061061 44082201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PINLYP,XRCC1 chr19 44061065 44061778 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 XRCC1 chr1 94407052 94475895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA4 chr1 94407052 94475895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA4 chr19 44073674 44223556 Copy number Lung cancer - 20668451 CADM4,IRGC,IRGQ,PINLYP,PLAUR,SRRM5,XRCC1,ZNF428,ZNF576 chr19 44073674 44223556 Gain or loss Breast cancer - 20668451 CADM4,IRGC,IRGQ,PINLYP,PLAUR,SRRM5,XRCC1,ZNF428,ZNF576 chr19 44073674 44223556 Gain or loss Cancer - 20668451 CADM4,IRGC,IRGQ,PINLYP,PLAUR,SRRM5,XRCC1,ZNF428,ZNF576 chr19 44073674 44223556 Gain or loss Lung cancer - 20668451 CADM4,IRGC,IRGQ,PINLYP,PLAUR,SRRM5,XRCC1,ZNF428,ZNF576 chr19 44073674 44223556 Gain or loss Ovarian cancer - 20668451 CADM4,IRGC,IRGQ,PINLYP,PLAUR,SRRM5,XRCC1,ZNF428,ZNF576 chr19 44073674 44223556 Gain or loss Pancreas cancer - 20668451 CADM4,IRGC,IRGQ,PINLYP,PLAUR,SRRM5,XRCC1,ZNF428,ZNF576 chr19 44073674 44223556 Gain or loss Prostate cancer - 20668451 CADM4,IRGC,IRGQ,PINLYP,PLAUR,SRRM5,XRCC1,ZNF428,ZNF576 chr19 44082181 44091374 Copy number Lung cancer - 20668451 IRGQ,PINLYP chr19 44082181 44091374 Gain or loss Breast cancer - 20668451 IRGQ,PINLYP chr19 44082181 44091374 Gain or loss Cancer - 20668451 IRGQ,PINLYP chr19 44082181 44091374 Gain or loss Lung cancer - 20668451 IRGQ,PINLYP chr19 44082181 44091374 Gain or loss Ovarian cancer - 20668451 IRGQ,PINLYP chr19 44082181 44091374 Gain or loss Pancreas cancer - 20668451 IRGQ,PINLYP chr19 44082181 44091374 Gain or loss Prostate cancer - 20668451 IRGQ,PINLYP chr19 44082444 44091373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRGQ,PINLYP chr19 44082444 44091373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRGQ,PINLYP chr19 44082455 44091371 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IRGQ,PINLYP chr19 44082455 44091373 Gain and loss Pancreatic cancer SNP array 17952125 IRGQ,PINLYP chr19 44090292 44090588 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IRGQ chr19 44097751 44113376 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IRGQ,ZNF428,ZNF576 chr19 44097751 44113376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRGQ,ZNF428,ZNF576 chr19 44097751 44113376 Gain and loss Pancreatic cancer SNP array 17952125 IRGQ,ZNF428,ZNF576 chr19 44097751 44113376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRGQ,ZNF428,ZNF576 chr19 44097752 44113153 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 IRGQ,ZNF428,ZNF576 chr19 44113028 44115493 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF428 chr19 44113028 44115493 Gain and loss Pancreatic cancer SNP array 17952125 ZNF428 chr19 44113188 44115497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF428 chr19 44113188 44115497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF428 chr19 44113228 44225659 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CADM4,IRGC,PLAUR,SRRM5,ZNF428 chr19 44120 475126 Copy number Autism exome sequencing 22495311 C2CD4C,FAM138A,FAM138F,FLJ45445,MIER2,ODF3L2,OR4F17,PPAP2C,SHC2,THEG,WASH5P chr19 44123882 44158220 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CADM4,PLAUR,ZNF428 chr19 44123882 44158220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CADM4,PLAUR,ZNF428 chr19 44123882 44158220 Gain and loss Pancreatic cancer SNP array 17952125 CADM4,PLAUR,ZNF428 chr19 44123882 44158220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CADM4,PLAUR,ZNF428 chr19 44127728 44128547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CADM4 chr19 44127728 44128547 Gain and loss Pancreatic cancer SNP array 17952125 CADM4 chr19 44127728 44128547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CADM4 chr19 44151217 44216664 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLAUR chr19 44162531 44163679 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLAUR chr19 44206505 44215038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 44206533 44215076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44206533 44215076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44206533 44215076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44210237 45922921 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1145K arrays 21546498 APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,BCAM,BCL3,BLOC1S3,CBLC,CD3EAP,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CKM,CLASRP,CLPTM1,ERCC1,ERCC2,EXOC3L2,GEMIN7,IGSF23,IRGC,KCNN4,KLC3,LOC100379224,LOC100505715,LYPD5,MARK4,MIR4531,NKPD1,PPP1R13L,PPP1R37,PVR,PVRL2,RELB,SMG9,TOMM40,TRAPPC6A,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF283,ZNF284,ZNF285,ZNF296,ZNF404,ZNF45 chr19 4423255 4453209 Gain and loss Pancreatic cancer SNP array 17952125 CHAF1A,MIR4746,UBXN6 chr19 4423255 4453213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHAF1A,MIR4746,UBXN6 chr19 4423255 4453213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHAF1A,MIR4746,UBXN6 chr19 44240970 44241306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMG9 chr19 44248363 44248441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMG9 chr19 44248729 44316630 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNN4,LYPD5,SMG9 chr19 44266785 44293318 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNN4 chr19 44266785 44293318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNN4 chr19 44266785 44293318 Gain and loss Pancreatic cancer SNP array 17952125 KCNN4 chr19 44266785 44293318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNN4 chr19 4428048 4430576 Gain and loss Pancreatic cancer SNP array 17952125 CHAF1A chr19 4428252 4428637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHAF1A chr19 44308259 44361886 Gain or loss Breast cancer - 20668451 LYPD5,ZNF283 chr19 44308259 44361886 Gain or loss Cancer - 20668451 LYPD5,ZNF283 chr19 44308259 44361886 Gain or loss Lung cancer - 20668451 LYPD5,ZNF283 chr19 44308259 44361886 Gain or loss Ovarian cancer - 20668451 LYPD5,ZNF283 chr19 44308259 44361886 Gain or loss Pancreas cancer - 20668451 LYPD5,ZNF283 chr19 44308259 44361886 Gain or loss Prostate cancer - 20668451 LYPD5,ZNF283 chr19 44308260 44361886 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LYPD5,ZNF283 chr19 44308260 44361886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LYPD5,ZNF283 chr19 44308260 44361886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYPD5,ZNF283 chr19 44308282 44365296 Gain and loss Pancreatic cancer SNP array 17952125 LYPD5,ZNF283 chr19 44316348 44316428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LYPD5 chr19 44337001 44387000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF283,ZNF404 chr19 44345757 44354138 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF283 chr19 44379441 44384362 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF404 chr19 44379441 44384362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF404 chr19 44379441 44384362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF404 chr19 44379444 44384362 Gain and loss Pancreatic cancer SNP array 17952125 ZNF404 chr19 44383368 45794582 LOH Normal High-resolution SNP genotyping 21211785 APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,BCAM,BCL3,BLOC1S3,CBLC,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CLASRP,CLPTM1,EXOC3L2,GEMIN7,IGSF23,LOC100379224,LOC100505715,MARK4,MIR4531,NKPD1,PPP1R37,PVR,PVRL2,RELB,TOMM40,TRAPPC6A,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF284,ZNF285,ZNF296,ZNF404,ZNF45 chr19 44385058 45794582 LOH Normal High-resolution SNP genotyping 21211785 APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,BCAM,BCL3,BLOC1S3,CBLC,CEACAM16,CEACAM19,CEACAM20,CEACAM22P,CLASRP,CLPTM1,EXOC3L2,GEMIN7,IGSF23,LOC100379224,LOC100505715,MARK4,MIR4531,NKPD1,PPP1R37,PVR,PVRL2,RELB,TOMM40,TRAPPC6A,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF284,ZNF285,ZNF296,ZNF45 chr19 44386333 44386734 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44386333 44386734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44386333 44386734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44386336 44386737 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 44387001 44701500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100379224,LOC100505715,ZNF155,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF230,ZNF234,ZNF284,ZNF45 chr19 44424118 44424218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF45 chr19 44426033 44427609 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF45 chr19 44426033 44427609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF45 chr19 44426033 44427609 Gain and loss Pancreatic cancer SNP array 17952125 ZNF45 chr19 44426033 44427609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF45 chr19 44437396 44437749 Gain and loss Pancreatic cancer SNP array 17952125 ZNF45 chr19 44437396 44437749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF45 chr19 44450997 44452572 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44450997 44452572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44450997 44452572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44451149 44452493 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 44455609 45045812 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 CEACAM20,CEACAM22P,LOC100379224,ZFP112,ZNF155,ZNF180,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF284,ZNF285 chr19 44478805 44481152 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44478805 44481152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44478805 44481152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 44478805 44481152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44489048 44497605 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF155 chr19 44489048 44497605 Gain and loss Pancreatic cancer SNP array 17952125 ZNF155 chr19 44489299 44497816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF155 chr19 44510840 44518486 Gain and loss Pancreatic cancer SNP array 17952125 ZNF230 chr19 44510850 44518486 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF230 chr19 44510850 44518486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF230 chr19 44519625 44554291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF222 chr19 44524948 44567375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF222,ZNF223 chr19 44524948 44567375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF222,ZNF223 chr19 44524948 44567375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF222,ZNF223 chr19 44527809 44527909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 4453192 4468716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBXN6 chr19 4453192 4468716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBXN6 chr19 44539177 44565771 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF223 chr19 44539374 44566658 Gain and loss Pancreatic cancer SNP array 17952125 ZNF223 chr19 4454501 4469000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UBXN6 chr19 44551630 44551928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 44551630 44551928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44551633 44551926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4455471 4464704 Gain and loss Pancreatic cancer SNP array 17952125 UBXN6 chr19 44568109 44573519 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ZNF223 chr19 44568115 44573572 Gain and loss Pancreatic cancer SNP array 17952125 ZNF223 chr19 44568115 44573586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF223 chr19 44568115 44573586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF223 chr19 44568115 44573640 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF223 chr19 44568126 44573344 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF223 chr19 44573802 44583043 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ZNF284 chr19 44573803 44583041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF284 chr19 44573803 44583041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF284 chr19 44573803 44583041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF284 chr19 44573856 44582453 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF284 chr19 44573868 44583041 Gain and loss Pancreatic cancer SNP array 17952125 ZNF284 chr19 44589293 44591853 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF284 chr19 44589293 44591853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF284 chr19 44589293 44591853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF284 chr19 44589326 44591885 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ZNF284 chr19 44589326 44591885 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF284 chr19 44589327 44591885 Gain and loss Pancreatic cancer SNP array 17952125 ZNF284 chr19 44595065 44607996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF224 chr19 44595065 44607996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF224 chr19 44595589 44610895 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 LOC100379224,ZNF224 chr19 44595590 44607994 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF224 chr19 44595590 44607994 Gain and loss Pancreatic cancer SNP array 17952125 ZNF224 chr19 44615686 44618458 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 LOC100379224,ZNF225 chr19 44615692 44618458 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100379224,ZNF225 chr19 44615692 44618458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100379224,ZNF225 chr19 44615692 44618458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100379224,ZNF225 chr19 44615692 44618478 Gain and loss Pancreatic cancer SNP array 17952125 LOC100379224,ZNF225 chr19 44615726 44618471 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 LOC100379224,ZNF225 chr19 44622052 44623922 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF225 chr19 44622052 44623922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF225 chr19 44628052 44659150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF225,ZNF234 chr19 44628052 44659150 Gain and loss Pancreatic cancer SNP array 17952125 ZNF225,ZNF234 chr19 44628052 44659150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF225,ZNF234 chr19 44628127 44659148 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ZNF225,ZNF234 chr19 44628164 44659146 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF225,ZNF234 chr19 44628301 44659054 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF225,ZNF234 chr19 4463897 4464094 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 44662891 44673368 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ZNF226,ZNF234 chr19 44662892 44673368 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF226,ZNF234 chr19 44662892 44673368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF226,ZNF234 chr19 44662892 44673368 Gain and loss Pancreatic cancer SNP array 17952125 ZNF226,ZNF234 chr19 44662892 44673368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF226,ZNF234 chr19 44662966 44672833 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 ZNF226,ZNF234 chr19 44681396 44690961 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ZNF226 chr19 44681396 44690961 Gain or loss Breast cancer - 20668451 ZNF226 chr19 44681396 44690961 Gain or loss Cancer - 20668451 ZNF226 chr19 44681396 44690961 Gain or loss Lung cancer - 20668451 ZNF226 chr19 44681396 44690961 Gain or loss Ovarian cancer - 20668451 ZNF226 chr19 44681396 44690961 Gain or loss Pancreas cancer - 20668451 ZNF226 chr19 44681396 44690961 Gain or loss Prostate cancer - 20668451 ZNF226 chr19 44681427 44690948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF226 chr19 44681427 44690948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF226 chr19 44681427 44690948 Gain and loss Pancreatic cancer SNP array 17952125 ZNF226 chr19 44681427 44690948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF226 chr19 4469001 4970000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARRDC5,C19orf10,DPP9,FEM1A,HDGFRP2,KDM4B,LOC100131094,LRG1,MIR4747,MIR7-3,MIR7-3HG,PLIN3,PLIN4,PLIN5,SEMA6B,TICAM1,TNFAIP8L1,UHRF1 chr19 44697592 44703166 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr19 44697593 44703166 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44697593 44703166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44697593 44703166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 44697593 44703166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44714797 44715282 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44714797 44715282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 44714797 44715282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44720730 44722710 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF227 chr19 44720730 44722710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF227 chr19 44720730 44722710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF227 chr19 44721286 44722678 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ZNF227 chr19 44721849 44722373 Gain and loss Pancreatic cancer SNP array 17952125 ZNF227 chr19 4473546 4486208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDGFRP2 chr19 4473546 4486208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDGFRP2 chr19 447490 456340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHC2 chr19 447490 456340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHC2 chr19 447490 456342 Gain and loss Pancreatic cancer SNP array 17952125 SHC2 chr19 44753075 44753277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 44764741 44797347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF233,ZNF235 chr19 44784556 44789953 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44784556 44789953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44784556 44789953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44785004 44789955 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 94479618 94480602 Gain and loss Pancreatic cancer SNP array 17952125 ABCA4 chr19 44816545 44816626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 44817637 44862606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZFP112 chr19 44829544 44829631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 44840624 44840724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFP112 chr19 44840944 44841147 Gain and loss Pancreatic cancer SNP array 17952125 ZFP112 chr19 44847589 44847673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFP112 chr19 44861854 44868848 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44861900 44866119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 4487439 4491048 Gain and loss Pancreatic cancer SNP array 17952125 HDGFRP2 chr19 44877533 44891927 Gain and loss Pancreatic cancer SNP array 17952125 ZNF285 chr19 44878400 44891927 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF285 chr19 44878400 44891927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF285 chr19 44878400 44891927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF285 chr19 4488237 4491092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDGFRP2 chr19 4488237 4491092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDGFRP2 chr19 44895427 44911531 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 ZNF285 chr19 4491278 4491353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDGFRP2 chr19 44913736 44921512 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 44913736 44921512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44913736 44921512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44913736 44934546 Gain and loss Pancreatic cancer SNP array 17952125 ZNF229 chr19 44919744 45212970 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CEACAM16,CEACAM19,CEACAM20,CEACAM22P,IGSF23,MIR4531,PVR,ZNF180,ZNF229 chr19 4493600 4509507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDGFRP2,PLIN4 chr19 4493600 4509507 Gain and loss Pancreatic cancer SNP array 17952125 HDGFRP2,PLIN4 chr19 4493600 4509507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDGFRP2,PLIN4 chr19 44949385 44949690 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF229 chr19 44959075 44968426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 44966988 44968349 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 4498434 4543435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HDGFRP2,LRG1,PLIN4,PLIN5,SEMA6B chr1 94500000 107000000 Gain Intestinal disease References 21956041 ABCA4,ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,CDC14A,CNN3,COL11A1,DBT,DNAJA1P5,DPH5,DPYD,DPYD-AS1,EXTL2,F3,FLJ31662,FRRS1,GPR88,HIAT1,LOC100128787,LOC100129138,LOC100129620,LOC729970,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,OLFM3,PALMD,PTBP2,RNPC3,RNU6-6,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1 chr1 94500000 107000000 Loss Carcinoma ex pleomorphic adenoma array-CGH 18828159 ABCA4,ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,CDC14A,CNN3,COL11A1,DBT,DNAJA1P5,DPH5,DPYD,DPYD-AS1,EXTL2,F3,FLJ31662,FRRS1,GPR88,HIAT1,LOC100128787,LOC100129138,LOC100129620,LOC729970,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,OLFM3,PALMD,PTBP2,RNPC3,RNU6-6,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1 chr1 94500000 107000000 Loss Non-small cell lung cancer - 21385341 ABCA4,ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,CDC14A,CNN3,COL11A1,DBT,DNAJA1P5,DPH5,DPYD,DPYD-AS1,EXTL2,F3,FLJ31662,FRRS1,GPR88,HIAT1,LOC100128787,LOC100129138,LOC100129620,LOC729970,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,OLFM3,PALMD,PTBP2,RNPC3,RNU6-6,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1 chr1 94500000 99400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA4,ABCD3,ALG14,ARHGAP29,CNN3,DPYD,DPYD-AS1,F3,FLJ31662,LOC729970,LOC729987,LPPR5,MIR137,MIR137HG,MIR2682,PTBP2,RWDD3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3 chr1 94500000 99400000 Copy number Normal - 21701786 ABCA4,ABCD3,ALG14,ARHGAP29,CNN3,DPYD,DPYD-AS1,F3,FLJ31662,LOC729970,LOC729987,LPPR5,MIR137,MIR137HG,MIR2682,PTBP2,RWDD3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3 chr1 94500000 99400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA4,ABCD3,ALG14,ARHGAP29,CNN3,DPYD,DPYD-AS1,F3,FLJ31662,LOC729970,LOC729987,LPPR5,MIR137,MIR137HG,MIR2682,PTBP2,RWDD3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3 chr1 94500000 99400000 Gain Malignant fibrous histiocytomas aCGH 21085701 ABCA4,ABCD3,ALG14,ARHGAP29,CNN3,DPYD,DPYD-AS1,F3,FLJ31662,LOC729970,LOC729987,LPPR5,MIR137,MIR137HG,MIR2682,PTBP2,RWDD3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3 chr19 45006501 45017000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEACAM20 chr19 45007831 45016681 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM20 chr19 45007833 45016681 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM20 chr19 45007833 45016681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM20 chr19 45007833 45016681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM20 chr19 45015421 45015515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEACAM20 chr19 45016938 45028848 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM20 chr19 45016938 45028848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM20 chr19 45016938 45028848 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM20 chr19 45016938 45028848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM20 chr19 45016951 45023256 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 CEACAM20 chr19 45028001 45029000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEACAM20 chr19 45032481 45085242 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEACAM20,CEACAM22P chr19 45038831 45063136 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEACAM22P chr19 45045802 45132373 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CEACAM22P,IGSF23 chr19 45045804 45132373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM22P,IGSF23 chr19 45045804 45132373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM22P,IGSF23 chr19 45045811 45132373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM22P,IGSF23 chr19 45045811 45132373 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM22P,IGSF23 chr19 45048943 45071884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEACAM22P chr19 45049019 45072938 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEACAM22P chr19 45052501 45104000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEACAM22P chr19 45052596 45066665 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEACAM22P chr19 45060871 45083094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 45065417 45081095 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 45065909 45121734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGSF23 chr19 45066355 45069358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 45067347 45120989 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGSF23 chr19 45068023 45071414 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 45070561 45118088 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGSF23 chr19 45072822 45127345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGSF23 chr19 45082323 45089039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 45085555 45108201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 45104001 45134000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGSF23 chr19 45108448 45718366 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,BCAM,BCL3,BLOC1S3,CBLC,CEACAM16,CEACAM19,CLASRP,CLPTM1,EXOC3L2,GEMIN7,IGSF23,MIR4531,NKPD1,PPP1R37,PVR,PVRL2,RELB,TOMM40,TRAPPC6A,ZNF296 chr19 45140401 45141507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45140401 45141507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45140982 45141428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 45156705 45185179 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CEACAM19,MIR4531,PVR chr19 45168913 45179191 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM19,PVR chr19 45168913 45179191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM19,PVR chr19 45168913 45179191 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM19,PVR chr19 45168913 45179191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM19,PVR chr19 45168950 45179137 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 CEACAM19,PVR chr19 45170599 45170631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 45181291 45325158 Copy number Lung cancer paired-end sequencing 18438408 BCAM,BCL3,CBLC,CEACAM16,CEACAM19 chr1 94518898 94518998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA4 chr19 45194869 45215354 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM16 chr19 45194869 45229812 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEACAM16 chr19 45194869 45229812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM16 chr19 45194869 45229812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM16 chr19 45200000 48000000 Copy number Prostate cancer 250K Sty SNP Array 19156837 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,C5AR1,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD3EAP,CEACAM16,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DHX34,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,GPR77,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IRF2BP1,KLC3,KPTN,LOC100287177,LOC388553,MARK4,MEIS3,MIR3190,MIR3191,MIR320E,MIR330,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NAPA,NAPA-AS1,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRKD2,PRR24,PTGIR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SLC8A2,SNAR-E,SNRPD2,STRN4,SYMPK,TMEM160,TOMM40,TRAPPC6A,VASP,ZC3H4,ZNF296 chr19 45200000 48000000 Gain Basal cell lymphoma Array CGH 19029149 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,C5AR1,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD3EAP,CEACAM16,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DHX34,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,GPR77,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IRF2BP1,KLC3,KPTN,LOC100287177,LOC388553,MARK4,MEIS3,MIR3190,MIR3191,MIR320E,MIR330,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NAPA,NAPA-AS1,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRKD2,PRR24,PTGIR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SLC8A2,SNAR-E,SNRPD2,STRN4,SYMPK,TMEM160,TOMM40,TRAPPC6A,VASP,ZC3H4,ZNF296 chr19 45200000 48000000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,BBC3,BCAM,BCL3,BLOC1S3,C5AR1,CALM3,CBLC,CCDC61,CCDC8,CCDC9,CD3EAP,CEACAM16,CKM,CLASRP,CLPTM1,DACT3,DACT3-AS1,DHX34,DKFZp434J0226,DMPK,DMWD,EML2,ERCC1,ERCC2,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GEMIN7,GIPR,GNG8,GPR4,GPR77,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IRF2BP1,KLC3,KPTN,LOC100287177,LOC388553,MARK4,MEIS3,MIR3190,MIR3191,MIR320E,MIR330,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NAPA,NAPA-AS1,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRKD2,PRR24,PTGIR,PVRL2,QPCTL,RELB,RNU6-66,RSPH6A,RTN2,SAE1,SIX5,SLC1A5,SLC8A2,SNAR-E,SNRPD2,STRN4,SYMPK,TMEM160,TOMM40,TRAPPC6A,VASP,ZC3H4,ZNF296 chr19 45200000 59128983 Gain and amplification Multiple myeloma Array CGH 16616336 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ASPDH,ATF5,AURKC,BAX,BBC3,BCAM,BCAT2,BCL2L12,BCL3,BIRC8,BLOC1S3,BRSK1,BSPH1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CALM3,CARD8,CBLC,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CD33,CD37,CD3EAP,CDC42EP5,CEACAM16,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CKM,CLASRP,CLDND2,CLEC11A,CLPTM1,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DACT3,DACT3-AS1,DBP,DHDH,DHX34,DKFZp434J0226,DKKL1,DMPK,DMWD,DNAAF3,DPRX,DUXA,EHD2,ELSPBP1,EMC10,EML2,EMP3,EPN1,EPS8L1,ERCC1,ERCC2,ERVV-1,ERVV-2,ETFB,EXOC3L2,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FBXO46,FCAR,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GEMIN7,GIPR,GLTSCR1,GLTSCR2,GNG8,GP6,GPR32,GPR4,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HIF3A,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IL11,IL4I1,IRF2BP1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287177,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LOC388553,LOC646862,LRRC4B,MAMSTR,MARK4,MBOAT7,MED25,MEIS3,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NKPD1,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OPA3,OSCAR,PEG3,PEG3-AS1,PGLYRP1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,PNMAL1,PNMAL2,POLD1,PPFIA3,PPM1N,PPP1R12C,PPP1R13L,PPP1R15A,PPP1R37,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR24,PRRG2,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,PVRL2,QPCTL,RASIP1,RCN3,RDH13,RELB,RFPL4A,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS5,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,SAE1,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPD2,SPACA4,SPHK2,SPIB,SSC5D,STRN4,SULT2A1,SULT2B1,SUV420H2,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TOMM40,TPM3P9,TPRX1,TRAPPC2P1,TRAPPC6A,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VASP,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZBTB45,ZC3H4,ZFP28,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF296,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF541,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr1 9452096 9452183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 94521492 94521592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA4 chr19 45225055 45250957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 45227212 45253952 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCL3 chr19 45227212 45253952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL3 chr19 45227212 45253952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL3 chr19 45231322 45253952 Gain and loss Pancreatic cancer SNP array 17952125 BCL3 chr19 45268754 45288685 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CBLC chr19 45270604 45288685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBLC chr19 45270604 45288685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBLC chr19 45270927 45288635 Gain and loss Pancreatic cancer SNP array 17952125 CBLC chr19 45285658 45323246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCAM,CBLC chr19 45292465 45304954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CBLC chr19 45304260 45531360 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,BCAM,CLPTM1,PVRL2,RELB,TOMM40 chr19 45304930 45307600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 45312381 45312452 Gain and loss Pancreatic cancer SNP array 17952125 BCAM chr19 45312381 45312452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAM chr19 45314928 45317142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCAM chr19 45339736 51224286 Copy number Lung cancer paired-end sequencing 18438408 AKT1S1,ALDH16A1,AP2A1,AP2S1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP35,ASPDH,ATF5,BAX,BBC3,BCAT2,BCL2L12,BLOC1S3,BSPH1,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CALM3,CARD8,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CD37,CD3EAP,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CKM,CLASRP,CLPTM1,CPT1C,CRX,CYTH2,DACT3,DACT3-AS1,DBP,DHDH,DHX34,DKFZp434J0226,DKKL1,DMPK,DMWD,EHD2,ELSPBP1,EMC10,EML2,EMP3,ERCC1,ERCC2,EXOC3L2,FAM71E1,FAM83E,FBXO46,FCGRT,FGF21,FKRP,FLJ26850,FLT3LG,FOSB,FOXA3,FTL,FUT1,FUT2,FUZ,GEMIN7,GIPR,GLTSCR1,GLTSCR2,GNG8,GPR4,GPR77,GRIN2D,GRWD1,GYS1,HIF3A,HRC,HSD17B14,IGFL1,IGFL2,IGFL3,IGFL4,IL4I1,IRF2BP1,IRF3,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KLC3,KPTN,LHB,LIG1,LIN7B,LMTK3,LOC100287177,LOC100505812,LOC100507003,LOC388553,LRRC4B,MAMSTR,MARK4,MED25,MEIS3,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR4324,MIR4749,MIR4750,MIR4751,MIR5088,MIR642A,MIR642B,MIR769,MYBPC2,MYH14,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NKPD1,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OPA3,PGLYRP1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,PNMAL1,PNMAL2,POLD1,PPFIA3,PPM1N,PPP1R13L,PPP1R15A,PPP1R37,PPP5C,PPP5D1,PRKD2,PRMT1,PRR12,PRR24,PRRG2,PTGIR,PTH2,PTOV1,PTOV1-AS1,PVRL2,QPCTL,RASIP1,RCN3,RELB,RNU6-66,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RSPH6A,RTN2,RUVBL2,SAE1,SCAF1,SEC1P,SEPW1,SHANK1,SIGLEC11,SIGLEC16,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNRNP70,SNRPD2,SPACA4,SPHK2,SPIB,STRN4,SULT2A1,SULT2B1,SYMPK,SYNGR4,SYT3,TBC1D17,TEAD2,TMEM143,TMEM160,TOMM40,TPRX1,TRAPPC6A,TRPM4,TSKS,TULP2,VASP,VRK3,ZC3H4,ZNF114,ZNF296,ZNF473,ZNF541 chr1 94534782 94534882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA4 chr19 45352074 45352163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PVRL2 chr19 45355279 45361177 Gain Normal 244K array 17666407 PVRL2 chr19 45357140 45358143 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PVRL2 chr1 945365 981355 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 AGRN,ISG15 chr1 945366 981355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGRN,ISG15 chr1 945366 981355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGRN,ISG15 chr19 45388501 45429500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOC1,APOE,PVRL2,TOMM40 chr19 45389490 45413314 Gain or loss Breast cancer - 20668451 APOE,PVRL2,TOMM40 chr19 45389490 45413314 Gain or loss Cancer - 20668451 APOE,PVRL2,TOMM40 chr19 45389490 45413314 Gain or loss Lung cancer - 20668451 APOE,PVRL2,TOMM40 chr19 45389490 45413314 Gain or loss Ovarian cancer - 20668451 APOE,PVRL2,TOMM40 chr19 45389490 45413314 Gain or loss Pancreas cancer - 20668451 APOE,PVRL2,TOMM40 chr19 45389490 45413314 Gain or loss Prostate cancer - 20668451 APOE,PVRL2,TOMM40 chr19 45389491 45413314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 APOE,PVRL2,TOMM40 chr19 45389491 45413314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOE,PVRL2,TOMM40 chr19 45389491 45413314 Gain and loss Pancreatic cancer SNP array 17952125 APOE,PVRL2,TOMM40 chr19 45389491 45413314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOE,PVRL2,TOMM40 chr1 94540182 94541169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA4 chr19 45401859 45401946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOMM40 chr19 45413804 45416138 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 45413805 45416146 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 45413805 45416146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45413805 45416146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45413807 45416138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 45419962 45424404 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 APOC1 chr19 45419962 45424404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOC1 chr19 45419962 45424404 Gain and loss Pancreatic cancer SNP array 17952125 APOC1 chr19 45419962 45424404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOC1 chr19 45428063 45483105 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Copy number Lung cancer - 20668451 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Deletioneted Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Gain or loss Breast cancer - 20668451 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Gain or loss Cancer - 20668451 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Gain or loss Lung cancer - 20668451 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Gain or loss Ovarian cancer - 20668451 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Gain or loss Pancreas cancer - 20668451 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Gain or loss Prostate cancer - 20668451 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428063 45483105 Neutral Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428064 45483105 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428064 45483105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45428064 45483105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45429501 45434000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOC1P1 chr19 45430075 45483107 Amplification or deletion Cancer Array CGH 17440070 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45430084 45483036 Gain and loss Pancreatic cancer SNP array 17952125 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45430106 45483092 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45431635 45483034 Amplification Breast cancer oligonucleotide CGH arrays 19602461 APOC1P1,APOC2,APOC4,APOC4-APOC2,CLPTM1 chr19 45434001 46010000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOC1P1,APOC2,APOC4,APOC4-APOC2,BLOC1S3,CD3EAP,CKM,CLASRP,CLPTM1,ERCC1,ERCC2,EXOC3L2,FOSB,GEMIN7,KLC3,MARK4,NKPD1,PPM1N,PPP1R13L,PPP1R37,RELB,RTN2,TRAPPC6A,ZNF296 chr19 45443238 45455679 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 APOC2,APOC4,APOC4-APOC2 chr19 45444450 45444553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 45444764 45444918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 45450076 45455626 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 APOC2,APOC4-APOC2 chr19 45471236 45473226 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLPTM1 chr19 45471236 45473226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLPTM1 chr19 45471236 45473226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLPTM1 chr19 45480290 45480388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLPTM1 chr19 4548413 5287389 Loss Autism qPCR 20531469 ARRDC5,C19orf10,DPP9,FEM1A,KDM4B,LOC100131094,MIR4747,MIR7-3,MIR7-3HG,PLIN3,PTPRS,SEMA6B,TICAM1,TNFAIP8L1,UHRF1 chr19 45497225 45497331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 45497225 45497331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45517302 45546274 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLASRP,RELB chr19 45518813 45546261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLASRP,RELB chr19 45518813 45546261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASRP,RELB chr19 45518813 45546262 Gain and loss Pancreatic cancer SNP array 17952125 CLASRP,RELB chr19 45536806 45536911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RELB chr19 45536808 45536911 Gain and loss Pancreatic cancer SNP array 17952125 RELB chr19 45540076 45540186 Gain and loss Pancreatic cancer SNP array 17952125 RELB chr19 45540076 45540188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RELB chr19 45546425 45576230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLASRP,ZNF296 chr19 45546425 45576230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASRP,ZNF296 chr19 45546447 45576229 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLASRP,ZNF296 chr19 45546447 45576229 Gain and loss Pancreatic cancer SNP array 17952125 CLASRP,ZNF296 chr19 45559982 45563088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLASRP chr19 45559982 45563088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASRP chr19 45577019 45587934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GEMIN7,ZNF296 chr19 45577019 45587934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GEMIN7,ZNF296 chr19 45577019 45587934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GEMIN7,ZNF296 chr19 45577019 45587943 Gain and loss Pancreatic cancer SNP array 17952125 GEMIN7,ZNF296 chr19 45591510 45611111 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 GEMIN7,PPP1R37 chr19 45591512 45611113 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GEMIN7,PPP1R37 chr19 45591512 45611113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GEMIN7,PPP1R37 chr19 45591512 45611113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GEMIN7,PPP1R37 chr19 45591515 45611111 Gain and loss Pancreatic cancer SNP array 17952125 GEMIN7,PPP1R37 chr19 45606179 45606257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R37 chr19 45619339 45623772 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1R37 chr19 45619339 45623772 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R37 chr19 45620251 45623721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R37 chr19 45620251 45623721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R37 chr19 45625821 48954385 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AP2S1,ARHGAP35,BBC3,BLOC1S3,BSPH1,C5AR1,CABP5,CALM3,CARD8,CCDC114,CCDC61,CCDC8,CCDC9,CD3EAP,CKM,CRX,DACT3,DACT3-AS1,DHX34,DKFZp434J0226,DMPK,DMWD,EHD2,ELSPBP1,EML2,EMP3,ERCC1,ERCC2,EXOC3L2,FBXO46,FKRP,FOSB,FOXA3,GIPR,GLTSCR1,GLTSCR2,GNG8,GPR4,GPR77,GRIN2D,GRWD1,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IRF2BP1,KDELR1,KLC3,KPTN,LIG1,LOC100287177,LOC100505812,LOC388553,MARK4,MEIS3,MIR3190,MIR3191,MIR320E,MIR330,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NAPA,NAPA-AS1,NKPD1,NOVA2,NPAS1,OPA3,PGLYRP1,PLA2G4C,PNMAL1,PNMAL2,PPM1N,PPP1R13L,PPP1R37,PPP5C,PPP5D1,PRKD2,PRR24,PTGIR,QPCTL,RNU6-66,RSPH6A,RTN2,SAE1,SEPW1,SIX5,SLC1A5,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-E,SNORD23,SNRPD2,STRN4,SULT2A1,SYMPK,SYNGR4,TMEM143,TMEM160,TPRX1,TRAPPC6A,VASP,ZC3H4,ZNF114,ZNF541 chr19 45638591 45642122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP1R37 chr19 45638591 45642122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1R37 chr19 45638591 45642122 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R37 chr19 45638591 45642122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R37 chr19 45638677 45640331 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 PPP1R37 chr19 45638944 45639303 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PPP1R37 chr19 45645541 45663435 Gain and loss Pancreatic cancer SNP array 17952125 NKPD1,PPP1R37 chr19 45645541 45663517 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NKPD1,PPP1R37 chr19 45645541 45663517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NKPD1,PPP1R37 chr19 45645541 45663517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NKPD1,PPP1R37 chr19 45659 47511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45663988 45774205 Gain and loss Pancreatic cancer SNP array 17952125 BLOC1S3,EXOC3L2,MARK4,TRAPPC6A chr19 45664966 45774204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BLOC1S3,EXOC3L2,MARK4,TRAPPC6A chr19 45664966 45774204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S3,EXOC3L2,MARK4,TRAPPC6A chr19 45664966 45774204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLOC1S3,EXOC3L2,MARK4,TRAPPC6A chr19 45667094 45667189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAPPC6A chr19 4569579 4570528 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 45712960 55025072 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ACPT,AKT1S1,ALDH16A1,AP2A1,AP2S1,ARHGAP35,ASPDH,ATF5,BAX,BBC3,BCAT2,BCL2L12,BIRC8,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CALM3,CARD8,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CD33,CD37,CD3EAP,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CKM,CLDND2,CLEC11A,CNOT3,CPT1C,CRX,CTU1,CYTH2,DACT3,DACT3-AS1,DBP,DHDH,DHX34,DKFZp434J0226,DKKL1,DMPK,DMWD,DPRX,EHD2,ELSPBP1,EMC10,EML2,EMP3,ERCC1,ERCC2,ERVV-1,ERVV-2,ETFB,EXOC3L2,FAM71E1,FAM83E,FAM90A27P,FBXO46,FCGRT,FGF21,FKRP,FLJ26850,FLJ30403,FLT3LG,FOSB,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GIPR,GLTSCR1,GLTSCR2,GNG8,GPR32,GPR4,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HIF3A,HRC,HSD17B14,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IL4I1,IRF2BP1,IRF3,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KLC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA3,LILRA4,LILRA5,LILRA6,LILRB2,LILRB3,LILRB5,LIM2,LIN7B,LINC00085,LMTK3,LOC100129083,LOC100287177,LOC100505812,LOC100507003,LOC147646,LOC284379,LOC388553,LRRC4B,MAMSTR,MARK4,MBOAT7,MED25,MEIS3,MGC45922,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR330,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MYPOP,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NDUFA3,NKG7,NLRP12,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OPA3,OSCAR,PGLYRP1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,PNMAL1,PNMAL2,POLD1,PPFIA3,PPM1N,PPP1R13L,PPP1R15A,PPP2R1A,PPP5C,PPP5D1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR24,PRRG2,PTGIR,PTH2,PTOV1,PTOV1-AS1,QPCTL,RASIP1,RCN3,RNU6-66,RPL13A,RPL13AP5,RPL18,RPS11,RPS9,RRAS,RSPH6A,RTN2,RUVBL2,SAE1,SCAF1,SEC1P,SEPW1,SHANK1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIX5,SLC17A7,SLC1A5,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPD2,SPACA4,SPHK2,SPIB,STRN4,SULT2A1,SULT2B1,SYMPK,SYNGR4,SYT3,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM160,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,VASP,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZC3H4,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF468,ZNF473,ZNF480,ZNF525,ZNF528,ZNF534,ZNF541,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF761,ZNF765,ZNF766,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF845,ZNF880 chr19 45774598 45789141 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MARK4 chr19 45774598 45789141 Gain and loss Pancreatic cancer SNP array 17952125 MARK4 chr19 45774630 45789141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARK4 chr19 45774630 45789141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARK4 chr19 45774650 45789026 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 MARK4 chr19 45790911 45827565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CKM,MARK4 chr19 45790911 45827565 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CKM,MARK4 chr19 45790911 45827565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CKM,MARK4 chr19 45790912 45827562 Gain and loss Pancreatic cancer SNP array 17952125 CKM,MARK4 chr19 45790912 45827565 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CKM,MARK4 chr19 45802774 45802860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARK4 chr19 45806956 45807056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARK4 chr19 45815416 45815473 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CKM chr19 4582917 4583017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 94583087 94583201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABCA4 chr19 4583317 4583415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 45836874 45874010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ERCC2,KLC3 chr19 45843201 45849800 Deletion Glioma mate-paired sequence 20126413 KLC3 chr19 45845308 45845682 Gain and loss Pancreatic cancer SNP array 17952125 KLC3 chr19 458497 470423 Gain and loss Pancreatic cancer SNP array 17952125 ODF3L2,SHC2 chr19 458497 470653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ODF3L2,SHC2 chr19 458497 470653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ODF3L2,SHC2 chr19 45863650 45888396 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERCC2,PPP1R13L chr19 45863650 45888396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERCC2,PPP1R13L chr19 45863650 45888396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERCC2,PPP1R13L chr19 45863651 45888396 Copy number Lung cancer - 20668451 ERCC2,PPP1R13L chr19 45863651 45888396 Gain or loss Breast cancer - 20668451 ERCC2,PPP1R13L chr19 45863651 45888396 Gain or loss Cancer - 20668451 ERCC2,PPP1R13L chr19 45863651 45888396 Gain or loss Lung cancer - 20668451 ERCC2,PPP1R13L chr19 45863651 45888396 Gain or loss Ovarian cancer - 20668451 ERCC2,PPP1R13L chr19 45863651 45888396 Gain or loss Pancreas cancer - 20668451 ERCC2,PPP1R13L chr19 45863651 45888396 Gain or loss Prostate cancer - 20668451 ERCC2,PPP1R13L chr19 45864438 45888374 Gain and loss Pancreatic cancer SNP array 17952125 ERCC2,PPP1R13L chr19 45880407 45880505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 45882690 45883236 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R13L chr19 45882690 45883236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13L chr19 45885104 45887834 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PPP1R13L chr19 45889274 45914440 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CD3EAP,ERCC1,PPP1R13L chr19 45889274 45914440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD3EAP,ERCC1,PPP1R13L chr19 45889274 45914440 Gain and loss Pancreatic cancer SNP array 17952125 CD3EAP,ERCC1,PPP1R13L chr19 45889274 45914440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD3EAP,ERCC1,PPP1R13L chr19 4590530 4604952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4590530 4604952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 4590530 4604952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45905800 45905908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13L chr19 45905804 45905908 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R13L chr19 45905804 45905908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R13L chr19 45914848 45938603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERCC1 chr19 45914848 45938603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERCC1 chr19 45914848 45938603 Gain and loss Pancreatic cancer SNP array 17952125 ERCC1 chr19 45914848 45938603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERCC1 chr19 45922835 45966553 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ERCC1 chr1 94593633 95200639 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCD3,ARHGAP29,F3 chr19 45938601 45948248 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 45938601 45948248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45938601 45948248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45938607 45948248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 45948618 45963134 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 45948619 45963130 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 45948619 45963130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 45948619 45963130 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 45948619 45963130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 94596017 94696109 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP29 chr19 45973140 45975232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOSB chr19 45973140 45975232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOSB chr19 45973218 45975236 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FOSB chr19 45973218 45975236 Gain and loss Pancreatic cancer SNP array 17952125 FOSB chr19 45976011 45994682 Gain and loss Pancreatic cancer SNP array 17952125 FOSB,RTN2 chr19 45976011 45994687 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FOSB,RTN2 chr19 45976011 45994687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOSB,RTN2 chr19 45976011 45994687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOSB,RTN2 chr19 45983467 46237908 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EML2,FBXO46,GIPR,GPR4,LOC100287177,MIR330,MIR642A,MIR642B,OPA3,PPM1N,QPCTL,RTN2,SNRPD2,VASP chr19 45996932 46006176 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1N,RTN2 chr19 45996932 46006176 Gain and loss Pancreatic cancer SNP array 17952125 PPM1N,RTN2 chr19 45996959 46006176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1N,RTN2 chr19 45996959 46006176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1N,RTN2 chr19 46010001 46077500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OPA3,VASP chr19 46011355 46013802 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VASP chr19 46022037 46022342 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VASP chr19 46023566 46023666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VASP chr19 46029141 46085096 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OPA3,VASP chr19 46030675 46036998 Loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46031710 46058017 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 OPA3 chr19 46031887 46065109 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPA3 chr19 46032469 46092475 Gain Normal 244K array 17666407 OPA3 chr19 46036998 46040709 Loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46037521 46073433 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OPA3 chr19 46037521 46073433 Total allelic loss Normal High-resolution SNP genotyping 21211785 OPA3 chr19 46040709 46042833 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46041284 46048180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OPA3 chr19 46041284 46048180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OPA3 chr19 46041284 46048180 Gain and loss Pancreatic cancer SNP array 17952125 OPA3 chr19 46041284 46048180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPA3 chr19 46042174 46073433 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 OPA3 chr19 46042174 46073433 Total allelic loss Normal High-resolution SNP genotyping 21211785 OPA3 chr19 46042833 46042834 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46042834 46048840 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46047070 46053301 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPA3 chr19 46048840 46051983 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46051983 46057742 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46057742 46062785 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46062785 46067859 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46063945 46064045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPA3 chr19 46067859 46072786 Gain or loss Normal Birdsuite, version 1.5.2 22087296 OPA3 chr19 46073184 46080497 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OPA3 chr19 46073184 46080497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OPA3 chr19 46073184 46080497 Gain and loss Pancreatic cancer SNP array 17952125 OPA3 chr19 46073184 46080497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPA3 chr19 46077501 46083250 Copy number Normal ReadDepth: A Parallel R Package 21305028 OPA3 chr19 46083251 46891500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC61,DKFZp434J0226,DMPK,DMWD,EML2,FBXO46,FOXA3,GIPR,GPR4,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IRF2BP1,LOC100287177,LOC388553,MIR330,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NOVA2,OPA3,PGLYRP1,PPP5C,QPCTL,RNU6-66,RSPH6A,SIX5,SNRPD2,SYMPK chr19 46084000 48423000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 AP2S1,ARHGAP35,BBC3,C5AR1,CALM3,CCDC61,CCDC8,CCDC9,CRX,DACT3,DACT3-AS1,DHX34,DKFZp434J0226,DMPK,DMWD,EHD2,EML2,FBXO46,FKRP,FOXA3,GIPR,GLTSCR1,GLTSCR2,GNG8,GPR4,GPR77,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,IRF2BP1,KPTN,LOC100287177,LOC388553,MEIS3,MIR3190,MIR3191,MIR320E,MIR330,MIR642A,MIR642B,MIR769,MYPOP,NANOS2,NAPA,NAPA-AS1,NOVA2,NPAS1,OPA3,PGLYRP1,PNMAL1,PNMAL2,PPP5C,PPP5D1,PRKD2,PRR24,PTGIR,QPCTL,RNU6-66,RSPH6A,SAE1,SEPW1,SIX5,SLC1A5,SLC8A2,SNAR-A1,SNAR-A12,SNAR-A13,SNAR-A2,SNAR-C1,SNAR-C2,SNAR-C5,SNAR-E,SNORD23,SNRPD2,STRN4,SULT2A1,SYMPK,TMEM160,TPRX1,ZC3H4,ZNF541 chr19 4608559 4621382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 4608566 4621415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4608566 4621415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46088571 46098253 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPR4 chr19 46088571 46098253 Gain and loss Pancreatic cancer SNP array 17952125 GPR4 chr19 46088571 46098253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR4 chr19 46094839 46094939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR4 chr19 46106322 46108594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 46106322 46108594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46107659 46108435 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46122010 46148403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EML2,LOC100287177,MIR330 chr19 46122010 46148403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EML2,LOC100287177,MIR330 chr19 46122010 46148403 Gain and loss Pancreatic cancer SNP array 17952125 EML2,LOC100287177,MIR330 chr19 46122010 46148403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML2,LOC100287177,MIR330 chr19 46143504 46146642 Gain Normal Birdsuite, version 1.5.2 22087296 EML2,LOC100287177 chr19 46143504 46205185 Gain Normal Birdsuite, version 1.5.2 22087296 EML2,GIPR,LOC100287177,MIR642A,MIR642B,QPCTL,SNRPD2 chr19 46146642 46205185 Gain Normal Birdsuite, version 1.5.2 22087296 EML2,GIPR,MIR642A,MIR642B,QPCTL,SNRPD2 chr19 46160000 63430000 Loss Acute lymphoblastic leukemia - 21339820 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,AP2S1,ARHGAP35,ASPDH,ATF5,AURKC,BAX,BBC3,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CALM3,CARD8,CCDC106,CCDC114,CCDC155,CCDC61,CCDC8,CCDC9,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DACT3,DACT3-AS1,DBP,DHDH,DHX34,DKFZp434J0226,DKKL1,DMPK,DMWD,DNAAF3,DPRX,DUXA,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FBXO46,FCAR,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FOXA3,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GIPR,GLTSCR1,GLTSCR2,GNG8,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HIF3A,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGFL4,IGLON5,IL11,IL4I1,IRF2BP1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LOC388553,LOC646862,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR642A,MIR642B,MIR643,MIR769,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MYPOP,MZF1,NANOS2,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NOVA2,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PGLYRP1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,PNMAL1,PNMAL2,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR24,PRRG2,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,QPCTL,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS5,RPS9,RRAS,RSPH6A,RUVBL2,SAE1,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SIX5,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SNRPD2,SPACA4,SPHK2,SPIB,SSC5D,STRN4,SULT2A1,SULT2B1,SUV420H2,SYMPK,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRAPPC2P1,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZBTB45,ZC3H4,ZFP28,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF541,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 46180087 46180172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GIPR chr19 46189044 46216141 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FBXO46,QPCTL,SNRPD2 chr19 46189044 46216141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO46,QPCTL,SNRPD2 chr19 46189044 46216141 Gain and loss Pancreatic cancer SNP array 17952125 FBXO46,QPCTL,SNRPD2 chr19 46189044 46216141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO46,QPCTL,SNRPD2 chr19 46222012 46225455 Gain and loss Pancreatic cancer SNP array 17952125 FBXO46 chr19 46222012 46225467 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FBXO46 chr19 46222012 46225467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO46 chr19 46248194 46257142 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC388553 chr19 46248327 46257080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388553 chr19 46250058 46250189 Gain and loss Pancreatic cancer SNP array 17952125 LOC388553 chr19 46252788 46296062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMPK,DMWD,LOC388553,SIX5 chr19 4626238 4674875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf10,TNFAIP8L1 chr19 4626238 4674875 Gain and loss Pancreatic cancer SNP array 17952125 C19orf10,TNFAIP8L1 chr19 4626238 4674875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf10,TNFAIP8L1 chr19 46272569 46272608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 46274382 46274443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMPK chr19 46284639 46284739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DMPK chr19 46286208 46293939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DMWD chr19 46286208 46293939 Gain and loss Pancreatic cancer SNP array 17952125 DMWD chr19 46286208 46293939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DMWD chr19 46294299 46328940 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMWD,RSPH6A,SYMPK chr19 46295772 46316674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DMWD,RSPH6A chr19 46300548 46302030 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RSPH6A chr19 4630294 4636960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46312193 46326121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSPH6A,SYMPK chr19 46312193 46326121 Gain and loss Pancreatic cancer SNP array 17952125 RSPH6A,SYMPK chr19 46312193 46326121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSPH6A,SYMPK chr19 46362918 46363018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYMPK chr19 46367606 46367902 Gain and loss Pancreatic cancer SNP array 17952125 FOXA3 chr19 46390955 46405283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYPOP chr19 46390955 46405283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYPOP chr19 46390969 46405283 Gain and loss Pancreatic cancer SNP array 17952125 MYPOP chr19 46396235 46969555 LOH Normal High-resolution SNP genotyping 21211785 CCDC61,CCDC8,DKFZp434J0226,HIF3A,IGFL1,IGFL2,IGFL3,IGFL4,MIR769,MYPOP,NANOS2,NOVA2,PGLYRP1,PPP5C,RNU6-66 chr19 46416663 46459510 Gain and loss Pancreatic cancer SNP array 17952125 NANOS2,NOVA2 chr19 46416947 46459511 Copy number Lung cancer - 20668451 NANOS2,NOVA2 chr19 46416947 46459511 Gain or loss Breast cancer - 20668451 NANOS2,NOVA2 chr19 46416947 46459511 Gain or loss Cancer - 20668451 NANOS2,NOVA2 chr19 46416947 46459511 Gain or loss Lung cancer - 20668451 NANOS2,NOVA2 chr19 46416947 46459511 Gain or loss Ovarian cancer - 20668451 NANOS2,NOVA2 chr19 46416947 46459511 Gain or loss Pancreas cancer - 20668451 NANOS2,NOVA2 chr19 46416947 46459511 Gain or loss Prostate cancer - 20668451 NANOS2,NOVA2 chr19 46416948 46459510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NANOS2,NOVA2 chr19 46416948 46459510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NANOS2,NOVA2 chr19 46437244 46439870 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 46439982 46440054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46439982 46440054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 94644543 94645020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP29 chr19 46452982 46507176 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCDC61,NOVA2 chr19 46460264 46505438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC61,NOVA2 chr19 46460264 46505438 Gain and loss Pancreatic cancer SNP array 17952125 CCDC61,NOVA2 chr19 46460264 46505438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC61,NOVA2 chr19 46471281 46471381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOVA2 chr19 46475967 46476067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOVA2 chr19 46484169 46484439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46484191 46484439 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46484191 46484439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 946501 964000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGRN,ISG15 chr19 46503693 46503766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC61 chr19 46507934 46522625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC61,MIR769,PGLYRP1 chr19 46507934 46522625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC61,MIR769,PGLYRP1 chr19 46507934 46522627 Gain and loss Pancreatic cancer SNP array 17952125 CCDC61,MIR769,PGLYRP1 chr19 46528254 46551628 Gain and loss Pancreatic cancer SNP array 17952125 IGFL4 chr19 46528490 46551656 Gain or loss Breast cancer - 20668451 IGFL4 chr19 46528490 46551656 Gain or loss Cancer - 20668451 IGFL4 chr19 46528490 46551656 Gain or loss Lung cancer - 20668451 IGFL4 chr19 46528490 46551656 Gain or loss Ovarian cancer - 20668451 IGFL4 chr19 46528490 46551656 Gain or loss Pancreas cancer - 20668451 IGFL4 chr19 46528490 46551656 Gain or loss Prostate cancer - 20668451 IGFL4 chr19 46528491 46551656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGFL4 chr19 46528491 46551656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGFL4 chr19 46528652 46551671 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 IGFL4 chr19 46548656 46581825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46552161 46561918 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 46552167 46561877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46552167 46561877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46552167 46561877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 94656520 94755273 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 ARHGAP29 chr1 94656599 94756670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP29 chr1 94656599 94756670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP29 chr19 46573969 46581825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46573969 46581825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46584121 46595096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46584121 46595096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46584121 46595224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 4659544 46622750 Copy number Autism exome sequencing 22495311 ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADCK4,AKAP8,AKAP8L,AKT2,ALKBH6,ALKBH7,ANGPTL4,ANGPTL6,ANKLE1,ANKRD27,ANO8,AP1M1,AP1M2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGEF1,ARHGEF18,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5SL,AXL,B3GNT3,B3GNT8,B9D2,BABAM1,BCAM,BCKDHA,BCL3,BEST2,BLOC1S3,BLVRB,BRD4,BST2,C19orf10,C19orf12,C19orf33,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf60,C19orf66,C19orf69,C19orf70,C19orf80,C3,C3P1,CACNA1A,CADM4,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC61,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD3EAP,CD70,CD79A,CD97,CDC37,CDKN2D,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CEP89,CERS1,CERS4,CHERP,CHST8,CIB3,CIC,CILP2,CKM,CLASRP,CLC,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNTD2,COL5A3,COMP,COPE,COX6B1,COX7A1,CPAMD8,CRB3,CRLF1,CRTC1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHPS,DKFZp566F0947,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DPF1,DPP9,DPY19L3,DUS3L,DYRK1B,ECH1,ECSIT,EGLN2,EID2,EID2B,EIF3G,EIF3K,ELAVL1,ELAVL3,ELL,ELOF1,EML2,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,ERCC1,ERCC2,ERF,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM125A,FAM129C,FAM187B,FAM32A,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCER2,FCGBP,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FKBP8,FLJ22184,FLJ25328,FLJ25758,FOSB,FOXA3,FUT3,FUT5,FUT6,FXYD1,FXYD3,FXYD5,FXYD7,GADD45GIP1,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPR,GLT25D1,GMFG,GMIP,GPATCH1,GPI,GPR108,GPR4,GRAMD1A,GRIK5,GSK3A,GTF2F1,GTPBP3,HAMP,HAPLN4,HAUS5,HAUS8,HAVCR1P1,HCST,HIPK4,HKR1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HSD11B1L,HSH2D,HSPB6,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL4,IGFLR1,IGSF23,IL12RB1,IL27RA,IL28A,IL28B,IL29,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRGC,IRGQ,ISYNA1,ITPKC,JAK3,JUNB,JUND,KANK2,KANK3,KCNK6,KCNN1,KCNN4,KCTD15,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIRREL2,KLC3,KLF1,KLF2,KLHL26,KRI1,KRTDAP,KXD1,LDLR,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LIN37,LINC00661,LINC00662,LINC00663,LINC00665,LIPE,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129935,LOC100131094,LOC100134317,LOC100287177,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505835,LOC100506469,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC148145,LOC284344,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LRFN1,LRFN3,LRP3,LRRC25,LRRC8E,LSM14A,LSM4,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MAG,MAN2B1,MAP1S,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MAU2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MIA,MIA-RAB4B,MIR1181,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR330,MIR3940,MIR4322,MIR4323,MIR4530,MIR4531,MIR4747,MIR4748,MIR4999,MIR5196,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR7-3,MIR7-3HG,MIR769,MLL4,MLLT1,MPV17L2,MRI1,MRPL34,MRPL4,MRPS12,MUC16,MYO1F,MYO9B,MYPOP,NACC1,NANOS2,NANOS3,NCAN,NCCRP1,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NFIX,NFKBIB,NFKBID,NKPD1,NOTCH3,NOVA2,NPHS1,NR2C2AP,NR2F6,NRTN,NUDT19,NUMBL,NWD1,NXNL1,OCEL1,OLFM2,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM3,PAPL,PBX4,PCP2,PDCD2L,PDCD5,PDE4A,PDE4C,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIK3R2,PIN1,PINLYP,PKN1,PLAC2,PLAUR,PLD3,PLEKHF1,PLEKHG2,PLIN3,PLVAP,PNPLA6,PODNL1,POLR2I,POP4,POU2F2,PPAN,PPAN-P2RY11,PPM1N,PPP1R13L,PPP1R14A,PPP1R37,PRAM1,PRDX2,PRG1,PRKACA,PRKCSH,PRODH2,PRR19,PRR22,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTGER1,PTPRS,PVR,PVRL2,QPCTL,QTRT1,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RAVER1,RBM42,RDH8,RELB,RETN,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RPL18A,RPL36,RPS16,RPS19,RPS28,RPSAP58,RSPH6A,RTBDN,RTN2,RYR1,S1PR2,S1PR5,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBSN,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SELV,SERTAD1,SERTAD3,SH2D3A,SHKBP1,SIN3B,SIPA1L3,SIRT2,SIX5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC44A2,SLC5A5,SLC7A10,SLC7A9,SMARCA4,SMG9,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD41,SNRPA,SNRPD2,SPC24,SPINT2,SPRED3,SPTBN4,SRRM5,SSBP4,STX10,STXBP2,SUGP1,SUGP2,SUPT5H,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,TBCB,TDRD12,TECR,TEX101,TGFB1,TGFBR3L,THAP8,THEG5,TICAM1,TIMM44,TIMM50,TM6SF2,TMED1,TMEM145,TMEM147,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMEM91,TNFSF14,TNFSF9,TNPO2,TOMM40,TPM4,TRAPPC5,TRAPPC6A,TRIP10,TRMT1,TSHZ3,TSPAN16,TSSK6,TTC9B,TUBB4A,TYK2,TYROBP,U2AF1L4,UBA2,UBA52,UBL5,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCRFS1,URI1,USE1,USF2,USHBP1,VASP,VAV1,VMAC,VSTM2B,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZFP112,ZFP14,ZFP30,ZFP36,ZFP82,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF146,ZNF155,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF257,ZNF260,ZNF266,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF317,ZNF333,ZNF345,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF45,ZNF461,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF507,ZNF526,ZNF527,ZNF529,ZNF536,ZNF540,ZNF546,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF780A,ZNF780B,ZNF781,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF829,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF850,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 46595544 46622749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46595544 46629090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGFL3 chr19 46595544 46629090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGFL3 chr19 46596236 59128983 Loss Wilms tumour 250K Genotyping Arrays 21544195 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,AP2S1,ARHGAP35,ASPDH,ATF5,AURKC,BAX,BBC3,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CALM3,CARD8,CCDC106,CCDC114,CCDC155,CCDC8,CCDC9,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DACT3,DACT3-AS1,DBP,DHDH,DHX34,DKFZp434J0226,DKKL1,DNAAF3,DPRX,DUXA,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FKBP1AP1,FKRP,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GNG8,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HIF3A,HRC,HSD17B14,HSPBP1,IGFL1,IGFL2,IGFL3,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LOC646862,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR320E,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MZF1,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,PNMAL1,PNMAL2,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP5C,PPP5D1,PPP6R1,PRKCG,PRKD2,PRMT1,PRPF31,PRR12,PRR24,PRRG2,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS5,RPS9,RRAS,RUVBL2,SAE1,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC1A5,SLC27A5,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-E,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,STRN4,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRAPPC2P1,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZBTB45,ZC3H4,ZFP28,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF541,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 46623105 46626475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGFL3 chr19 46623105 46626475 Gain and loss Pancreatic cancer SNP array 17952125 IGFL3 chr19 46623105 46626475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGFL3 chr19 46629064 46637654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46629064 46637654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46629064 46637655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 4663078 4663140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C19orf10 chr19 46640903 46641969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46663601 46717633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DKFZp434J0226,IGFL2 chr19 46668500 46699715 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 46689176 46689236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 46703908 46704653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46703908 46704653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46703908 46704653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46719244 46720191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46721544 46721644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNU6-66 chr19 46726211 46741937 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGFL1,RNU6-66 chr19 46733769 46785037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGFL1,RNU6-66 chr19 46733769 46785037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGFL1,RNU6-66 chr19 46742591 46742685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNU6-66 chr19 46751686 46754147 Gain Normal Birdsuite, version 1.5.2 22087296 RNU6-66 chr19 46761830 46763418 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-66 chr19 46761830 46763418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNU6-66 chr19 46774371 46777829 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-66 chr19 46774582 46904593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HIF3A,PPP5C,RNU6-66 chr19 46781534 46782534 Gain Chordoma References 21215367 RNU6-66 chr19 46811009 46844303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HIF3A chr19 46817184 46825268 Gain and loss Pancreatic cancer SNP array 17952125 HIF3A chr19 46817184 46825282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIF3A chr19 46817184 46825282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIF3A chr19 46869073 46883936 Gain and loss Pancreatic cancer SNP array 17952125 PPP5C chr19 46869073 46884039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP5C chr19 46869073 46884039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP5C chr19 46879180 46883137 Gain Normal Birdsuite, version 1.5.2 22087296 PPP5C chr19 46891501 46904000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP5C chr19 46900000 47100000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 CCDC8,PNMAL1,PNMAL2,PPP5D1 chr19 46904001 47003000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC8,PNMAL1,PNMAL2,PPP5D1 chr19 46904370 46926277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC8 chr19 46904370 46926277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC8 chr19 46904491 46923076 Gain and loss Pancreatic cancer SNP array 17952125 CCDC8 chr19 46951341 46967953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46951341 46967953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 46951347 46967662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46954051 46985680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PNMAL1,PPP5D1 chr19 46967790 46967921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 46992374 47007431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNMAL2,PPP5D1 chr19 46992374 47007431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNMAL2,PPP5D1 chr19 46992381 47007431 Gain and loss Pancreatic cancer SNP array 17952125 PNMAL2,PPP5D1 chr1 94700000 107200000 Copy number Schizophrenia Mapping 250K Nsp Assay kit and the Mapping 250K Sty Assay kit 17879154 ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,CDC14A,CNN3,COL11A1,DBT,DNAJA1P5,DPH5,DPYD,DPYD-AS1,EXTL2,F3,FLJ31662,FRRS1,GPR88,HIAT1,LOC100128787,LOC100129138,LOC100129620,LOC729970,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,OLFM3,PALMD,PTBP2,RNPC3,RNU6-6,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1 chr1 94700000 107200000 Deletion Mental retardation array CGH 17124404 ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,CDC14A,CNN3,COL11A1,DBT,DNAJA1P5,DPH5,DPYD,DPYD-AS1,EXTL2,F3,FLJ31662,FRRS1,GPR88,HIAT1,LOC100128787,LOC100129138,LOC100129620,LOC729970,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,OLFM3,PALMD,PTBP2,RNPC3,RNU6-6,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1 chr1 94700000 107200000 Loss Intestinal disease real-time quantitative polymerase chain reaction 17828263 ABCD3,ACTG1P4,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,CDC14A,CNN3,COL11A1,DBT,DNAJA1P5,DPH5,DPYD,DPYD-AS1,EXTL2,F3,FLJ31662,FRRS1,GPR88,HIAT1,LOC100128787,LOC100129138,LOC100129620,LOC729970,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,OLFM3,PALMD,PTBP2,RNPC3,RNU6-6,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1 chr1 94700000 99700000 Loss Gastric cancer Array CGH 16891809 ABCD3,ALG14,ARHGAP29,CNN3,DPYD,DPYD-AS1,F3,FLJ31662,LOC100129620,LOC729970,LOC729987,LPPR5,MIR137,MIR137HG,MIR2682,PTBP2,RWDD3,SLC44A3,SNX7,TMEM56,TMEM56-RWDD3 chr19 47003001 47008500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP5D1 chr19 47008501 47055500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP5D1 chr19 47025562 47026831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47025562 47026831 Gain and loss Pancreatic cancer SNP array 17952125 PPP5D1 chr19 47025562 47026831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47032988 47040348 Gain and loss Pancreatic cancer SNP array 17952125 PPP5D1 chr19 47032988 47040576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47032988 47040576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47040863 47048237 Deletion Intellectual disability 100k SNP Array 21811512 PPP5D1 chr19 47040864 47047604 Copy number Autism Illumina Humanhap300 Beadchips 19492091 PPP5D1 chr19 47040864 47047604 Gain and loss Pancreatic cancer SNP array 17952125 PPP5D1 chr19 47040926 47048238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47040926 47048238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47055501 47192500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CALM3,DACT3,DACT3-AS1,GNG8,PPP5D1,PRKD2,PTGIR chr19 47055828 47067322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47055828 47067322 Gain and loss Pancreatic cancer SNP array 17952125 PPP5D1 chr19 47055828 47067322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr1 94706804 94719381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 47073030 47077279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47073030 47077279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47073179 47077278 Gain and loss Pancreatic cancer SNP array 17952125 PPP5D1 chr19 47079090 47103437 Gain and loss Pancreatic cancer SNP array 17952125 PPP5D1 chr19 47079106 47103437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47079106 47103437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP5D1 chr19 47079106 47103444 Deletion Intellectual disability 100k SNP Array 21811512 PPP5D1 chr19 47090276 48491951 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 AP2S1,ARHGAP35,BBC3,BSPH1,C5AR1,CALM3,CCDC9,CRX,DACT3,DACT3-AS1,DHX34,EHD2,FKRP,GLTSCR1,GLTSCR2,GNG8,GPR77,KPTN,MEIS3,MIR3190,MIR3191,MIR320E,NAPA,NAPA-AS1,NPAS1,PPP5D1,PRKD2,PRR24,PTGIR,SAE1,SEPW1,SLC1A5,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-E,SNORD23,STRN4,SULT2A1,TMEM160,TPRX1,ZC3H4,ZNF541 chr19 47090991 47091059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP5D1 chr19 47092705 47092910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP5D1 chr19 47114601 47114669 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr1 94712398 94741779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 47152675 47155311 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 DACT3 chr19 47152681 47155320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DACT3 chr19 47152681 47155320 Gain and loss Pancreatic cancer SNP array 17952125 DACT3 chr19 47152681 47155320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACT3 chr1 94715822 94715903 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 47162578 47190222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DACT3,DACT3-AS1,PRKD2 chr19 47162578 47190222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DACT3,DACT3-AS1,PRKD2 chr19 47162580 47190222 Gain and loss Pancreatic cancer SNP array 17952125 DACT3,DACT3-AS1,PRKD2 chr19 47187884 47188131 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKD2 chr19 47192501 47412500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP2S1,FKRP,MIR320E,PRKD2,SLC1A5,SNAR-E,STRN4 chr19 47194315 47261797 Gain and loss Pancreatic cancer SNP array 17952125 FKRP,MIR320E,PRKD2,STRN4 chr19 47194317 47261797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FKRP,MIR320E,PRKD2,STRN4 chr19 47194317 47261797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FKRP,MIR320E,PRKD2,STRN4 chr19 4720152 4723531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPP9 chr19 4720152 4723531 Gain and loss Pancreatic cancer SNP array 17952125 DPP9 chr19 4720152 4723531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPP9 chr19 47202707 47202788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKD2 chr19 4720740 5647962 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ARRDC5,DPP9,FEM1A,KDM4B,MIR4747,MIR7-3,MIR7-3HG,PLAC2,PLIN3,PTPRS,SAFB,SAFB2,TICAM1,UHRF1,ZNRF4 chr19 4721682 4721791 Gain and loss Pancreatic cancer SNP array 17952125 DPP9 chr19 4721682 4721791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPP9 chr19 47235368 47235444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STRN4 chr19 47264469 47277543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 47264704 47277557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 47264704 47277557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 47266462 47266787 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 47284515 47328470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC1A5 chr19 47284515 47328470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC1A5 chr19 47286961 47328420 Gain and loss Pancreatic cancer SNP array 17952125 SLC1A5 chr19 47326702 47361596 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AP2S1,SNAR-E chr19 4732909 4732993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 47346269 47349315 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AP2S1 chr19 47394592 47413708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 47394592 47416115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 47394592 47416115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 47395000 56995000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ACPT,AKT1S1,ALDH16A1,AP2A1,ARHGAP35,ASPDH,ATF5,BAX,BBC3,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CCDC9,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DHX34,DKKL1,DNAAF3,DPRX,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100129083,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC45922,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NPAS1,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRR24,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SAE1,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM160,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZC3H4,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF541,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 47412501 47624000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP35,NPAS1,TMEM160,ZC3H4 chr19 47416332 47424193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47416332 47424193 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP35 chr19 47416332 47424193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47426177 47438576 Gain or loss Breast cancer - 20668451 ARHGAP35 chr19 47426177 47438576 Gain or loss Cancer - 20668451 ARHGAP35 chr19 47426177 47438576 Gain or loss Lung cancer - 20668451 ARHGAP35 chr19 47426177 47438576 Gain or loss Ovarian cancer - 20668451 ARHGAP35 chr19 47426177 47438576 Gain or loss Pancreas cancer - 20668451 ARHGAP35 chr19 47426177 47438576 Gain or loss Prostate cancer - 20668451 ARHGAP35 chr19 47426182 47438591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47426182 47438591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47426186 47438591 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP35 chr19 4742728 4746571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4742728 4746571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 4742770 4746563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 47438767 47440965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47443556 47451149 Gain or loss Breast cancer - 20668451 ARHGAP35 chr19 47443556 47451149 Gain or loss Cancer - 20668451 ARHGAP35 chr19 47443556 47451149 Gain or loss Lung cancer - 20668451 ARHGAP35 chr19 47443556 47451149 Gain or loss Ovarian cancer - 20668451 ARHGAP35 chr19 47443556 47451149 Gain or loss Pancreas cancer - 20668451 ARHGAP35 chr19 47443556 47451149 Gain or loss Prostate cancer - 20668451 ARHGAP35 chr19 47443561 47451113 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP35 chr19 47443564 47451093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47443564 47451093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47470129 47470193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP35 chr19 47470146 47470231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP35 chr19 47480656 47491789 Gain or loss Breast cancer - 20668451 ARHGAP35 chr19 47480656 47491789 Gain or loss Cancer - 20668451 ARHGAP35 chr19 47480656 47491789 Gain or loss Lung cancer - 20668451 ARHGAP35 chr19 47480656 47491789 Gain or loss Ovarian cancer - 20668451 ARHGAP35 chr19 47480656 47491789 Gain or loss Pancreas cancer - 20668451 ARHGAP35 chr19 47480656 47491789 Gain or loss Prostate cancer - 20668451 ARHGAP35 chr19 47480657 47491789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47480657 47491789 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP35 chr19 47480657 47491789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47493025 47498563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47493025 47498563 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP35 chr19 47493025 47498563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47498090 47506805 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP35 chr19 47498124 47506813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47498124 47506813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP35 chr19 47509316 47521054 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 47509317 47521054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 47509317 47521054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 47509328 47521054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 47521601 47574761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPAS1,TMEM160,ZC3H4 chr19 47521601 47574761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS1,TMEM160,ZC3H4 chr19 47532798 47573470 Gain and loss Pancreatic cancer SNP array 17952125 NPAS1,TMEM160,ZC3H4 chr19 47573956 47574753 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H4 chr19 47583013 47586279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZC3H4 chr19 47583013 47586279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H4 chr19 47583019 47586279 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H4 chr19 47597499 47623418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZC3H4 chr19 47597499 47623418 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H4 chr19 47597499 47623418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H4 chr19 47616586 47616665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H4 chr19 47619851 57427110 Amplification Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BBC3,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CCDC9,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DHX34,DKKL1,DNAAF3,DPRX,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100129083,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR3190,MIR3191,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRR24,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SAE1,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZFP28,ZIM2,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF541,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 47620261 47721860 Gain and loss Pancreatic cancer SNP array 17952125 SAE1 chr19 47624280 47639040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAE1 chr19 47624280 47639040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAE1 chr19 47624536 47638976 Gain and loss Pancreatic cancer SNP array 17952125 SAE1 chr19 4762730 4762830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 47632050 47632195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 47668868 47668947 Gain and loss Pancreatic cancer SNP array 17952125 SAE1 chr19 47668870 47668998 Gain and loss Pancreatic cancer SNP array 17952125 SAE1 chr19 4766944 4782716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR7-3,MIR7-3HG chr19 4766944 4782716 Gain and loss Pancreatic cancer SNP array 17952125 MIR7-3,MIR7-3HG chr19 4766944 4782716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR7-3,MIR7-3HG chr1 94767461 94779903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 94767461 94779903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 47681065 47681700 Gain and loss Pancreatic cancer SNP array 17952125 SAE1 chr19 47681065 47681706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAE1 chr19 47696678 47727034 Gain and loss Pancreatic cancer SNP array 17952125 BBC3,SAE1 chr19 47701340 47724479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BBC3,SAE1 chr19 47701340 47724479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BBC3,SAE1 chr19 47703307 47724470 Gain and loss Pancreatic cancer SNP array 17952125 BBC3,SAE1 chr19 47715001 47752000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BBC3,MIR3190,MIR3191 chr19 47733236 47733326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BBC3 chr19 47734587 48127284 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BBC3,C5AR1,CCDC9,DHX34,GLTSCR1,GPR77,KPTN,MEIS3,NAPA,NAPA-AS1,PRR24,SLC8A2,ZNF541 chr19 47734587 48127284 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BBC3,C5AR1,CCDC9,DHX34,GLTSCR1,GPR77,KPTN,MEIS3,NAPA,NAPA-AS1,PRR24,SLC8A2,ZNF541 chr19 47734587 48590893 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BBC3,BSPH1,C5AR1,CABP5,CCDC9,CRX,DHX34,EHD2,ELSPBP1,GLTSCR1,GLTSCR2,GPR77,KPTN,MEIS3,NAPA,NAPA-AS1,PLA2G4C,PRR24,SEPW1,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1,ZNF541 chr19 47749476 47757749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 47752001 48656000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BSPH1,C5AR1,CABP5,CCDC9,CRX,DHX34,EHD2,ELSPBP1,GLTSCR1,GLTSCR2,GPR77,KPTN,LIG1,MEIS3,NAPA,NAPA-AS1,PLA2G4C,PRR24,SEPW1,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1,ZNF541 chr1 94776528 94776628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 47776236 47790906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR24 chr19 47776236 47790906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR24 chr1 94777808 95200639 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCD3,F3 chr19 47779238 47790820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 47800000 50000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALDH16A1,BAX,BCAT2,BSPH1,C19orf73,C5AR1,CA11,CABP5,CARD8,CCDC114,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CRX,CYTH2,DBP,DHDH,DHX34,DKKL1,EHD2,ELSPBP1,EMP3,FAM83E,FGF21,FLT3LG,FTL,FUT1,FUT2,GLTSCR1,GLTSCR2,GPR77,GRIN2D,GRWD1,GYS1,HRC,HSD17B14,IZUMO1,KCNA7,KCNJ14,KDELR1,KPTN,LHB,LIG1,LIN7B,LMTK3,LOC100505812,LOC100507003,MAMSTR,MEIS3,MIR4324,NAPA,NAPA-AS1,NTF4,NTN5,NUCB1,PIH1D1,PLA2G4C,PLEKHA4,PPFIA3,PPP1R15A,PTH2,RASIP1,RPL13A,RPL13AP5,RPL18,RPS11,RUVBL2,SEC1P,SEPW1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNRNP70,SPACA4,SPHK2,SULT2A1,SULT2B1,SYNGR4,TEAD2,TMEM143,TPRX1,TRPM4,TULP2,ZNF114,ZNF541 chr19 47800000 50000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALDH16A1,BAX,BCAT2,BSPH1,C19orf73,C5AR1,CA11,CABP5,CARD8,CCDC114,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CRX,CYTH2,DBP,DHDH,DHX34,DKKL1,EHD2,ELSPBP1,EMP3,FAM83E,FGF21,FLT3LG,FTL,FUT1,FUT2,GLTSCR1,GLTSCR2,GPR77,GRIN2D,GRWD1,GYS1,HRC,HSD17B14,IZUMO1,KCNA7,KCNJ14,KDELR1,KPTN,LHB,LIG1,LIN7B,LMTK3,LOC100505812,LOC100507003,MAMSTR,MEIS3,MIR4324,NAPA,NAPA-AS1,NTF4,NTN5,NUCB1,PIH1D1,PLA2G4C,PLEKHA4,PPFIA3,PPP1R15A,PTH2,RASIP1,RPL13A,RPL13AP5,RPL18,RPS11,RUVBL2,SEC1P,SEPW1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNRNP70,SPACA4,SPHK2,SULT2A1,SULT2B1,SYNGR4,TEAD2,TMEM143,TPRX1,TRPM4,TULP2,ZNF114,ZNF541 chr19 47800000 57600000 Copy number Normal - 21701786 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DHX34,DKKL1,DNAAF3,DPRX,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100129083,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZFP28,ZIM2,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF541,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 47800000 57600000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DHX34,DKKL1,DNAAF3,DPRX,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100129083,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZFP28,ZIM2,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF541,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 47800000 57600000 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DHX34,DKKL1,DNAAF3,DPRX,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100129083,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZFP28,ZIM2,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF541,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 47800000 57600000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DHX34,DKKL1,DNAAF3,DPRX,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100129083,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZFP28,ZIM2,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF541,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 47800000 57600000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DHX34,DKKL1,DNAAF3,DPRX,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100129083,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZFP28,ZIM2,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF541,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 47800000 57600000 Loss Glioblastoma multiforme aCGH 21080181 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,C5AR1,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DHX34,DKKL1,DNAAF3,DPRX,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GPR77,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,KPTN,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100129083,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MEIS3,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZFP28,ZIM2,ZNF114,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF541,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 47816204 47829026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C5AR1 chr19 47832556 47966571 Gain or loss Breast cancer - 20668451 DHX34,GPR77,MEIS3,SLC8A2 chr19 47832556 47966571 Gain or loss Cancer - 20668451 DHX34,GPR77,MEIS3,SLC8A2 chr19 47832556 47966571 Gain or loss Lung cancer - 20668451 DHX34,GPR77,MEIS3,SLC8A2 chr19 47832556 47966571 Gain or loss Ovarian cancer - 20668451 DHX34,GPR77,MEIS3,SLC8A2 chr19 47832556 47966571 Gain or loss Pancreas cancer - 20668451 DHX34,GPR77,MEIS3,SLC8A2 chr19 47832556 47966571 Gain or loss Prostate cancer - 20668451 DHX34,GPR77,MEIS3,SLC8A2 chr19 47846315 47846476 Gain Normal 244K array 17666407 NOT_FOUND chr19 47850192 47865068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX34 chr19 47857401 47861600 Deletion Glioma mate-paired sequence 20126413 DHX34 chr19 47857639 47858396 Gain and loss Pancreatic cancer SNP array 17952125 DHX34 chr19 47859227 47859704 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DHX34 chr1 94789251 94834654 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr1 94789251 94842247 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 4789346 4818676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FEM1A,TICAM1 chr19 4789346 4818676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FEM1A,TICAM1 chr19 4789354 4818669 Gain and loss Pancreatic cancer SNP array 17952125 FEM1A,TICAM1 chr19 47900000 48300000 Loss Lung squamous cell carcinoma sub-megabase resolution tiling-set rearray platform 20842114 EHD2,GLTSCR1,GLTSCR2,KPTN,MEIS3,NAPA,NAPA-AS1,SEPW1,SLC8A2,SNORD23,ZNF541 chr19 47903110 47982613 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KPTN,MEIS3,SLC8A2 chr19 47903122 48046292 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KPTN,MEIS3,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47907156 48230606 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 EHD2,GLTSCR1,KPTN,MEIS3,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47916390 47982613 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KPTN,MEIS3,SLC8A2 chr19 47917635 47936508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEIS3,SLC8A2 chr19 47917635 47936508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEIS3,SLC8A2 chr19 47919974 47936376 Gain and loss Pancreatic cancer SNP array 17952125 MEIS3,SLC8A2 chr19 47929604 48054480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47940621 47940721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A2 chr19 47947045 48054480 Duplication Normal Affymetrix 6.0 microarrays 20967226 KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47947045 48054480 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47947045 48060763 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47947045 48261868 Duplication Normal Affymetrix 6.0 microarrays 20967226 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,SLC8A2,SNORD23,ZNF541 chr19 47948678 47961688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC8A2 chr19 47948678 47961688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC8A2 chr19 47949352 48051611 Gain and loss Pancreatic cancer SNP array 17952125 KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47952718 48237089 Loss Normal 244K array 17666407 EHD2,GLTSCR1,KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47957445 48127284 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GLTSCR1,KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47957445 48590893 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BSPH1,CABP5,CRX,EHD2,ELSPBP1,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,PLA2G4C,SEPW1,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1,ZNF541 chr19 47957445 48590893 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BSPH1,CABP5,CRX,EHD2,ELSPBP1,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,PLA2G4C,SEPW1,SLC8A2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1,ZNF541 chr19 47960451 48176335 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 GLTSCR1,KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47970563 48243144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EHD2,GLTSCR1,KPTN,NAPA,NAPA-AS1,SLC8A2,ZNF541 chr19 47977198 47982587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KPTN chr19 47978604 47986230 Loss Normal Birdsuite, version 1.5.2 22087296 KPTN chr19 47980096 48240842 Deletion Normal Affymetrix 6.0 microarrays 20967226 EHD2,GLTSCR1,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47982274 48295894 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,SEPW1,SNORD23,ZNF541 chr19 47982274 48295894 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,SEPW1,SNORD23,ZNF541 chr19 47986218 48200873 Deletion Normal Affymetrix 6.0 microarrays 20967226 GLTSCR1,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986218 48229218 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EHD2,GLTSCR1,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986218 48234659 Deletion Normal Affymetrix 6.0 microarrays 20967226 EHD2,GLTSCR1,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986218 48240842 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 EHD2,GLTSCR1,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986218 48460022 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CRX,EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1,ZNF541 chr19 47986230 48053542 Gain or loss Normal Birdsuite, version 1.5.2 22087296 KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986320 48234139 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986320 48234139 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986320 48249926 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986320 48249926 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,ZNF541 chr19 47986320 48295894 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,SEPW1,SNORD23,ZNF541 chr19 47986320 48295894 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,SEPW1,SNORD23,ZNF541 chr19 47986320 48298330 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,SEPW1,SNORD23,ZNF541 chr19 47986320 48298330 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,KPTN,NAPA,NAPA-AS1,SEPW1,SNORD23,ZNF541 chr19 47991099 48338943 Copy number loss Normal High-resolution SNP genotyping 21211785 CRX,EHD2,GLTSCR1,GLTSCR2,NAPA,NAPA-AS1,SEPW1,SNORD23,TPRX1,ZNF541 chr19 47991257 48222186 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 EHD2,GLTSCR1,NAPA,NAPA-AS1,ZNF541 chr19 47995088 47995172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAPA,NAPA-AS1 chr19 47996189 48308128 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,NAPA,NAPA-AS1,SEPW1,SNORD23,TPRX1,ZNF541 chr19 48000000 51400000 Gain Basal cell lymphoma Array CGH 19029149 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,CA11,CABP5,CARD8,CCDC114,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLEC11A,CPT1C,CRX,CYTH2,DBP,DHDH,DKKL1,EHD2,ELSPBP1,EMC10,EMP3,FAM71E1,FAM83E,FCGRT,FGF21,FLJ26850,FLT3LG,FTL,FUT1,FUT2,FUZ,GLTSCR1,GLTSCR2,GPR32,GRIN2D,GRWD1,GYS1,HRC,HSD17B14,IL4I1,IRF3,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KLK1,KLK15,KLK2,KLK3,KLKP1,LHB,LIG1,LIN7B,LMTK3,LOC100505812,LOC100507003,LRRC4B,MAMSTR,MED25,MGC45922,MIR150,MIR4324,MIR4749,MIR4750,MIR4751,MIR5088,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R15A,PRMT1,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,RASIP1,RCN3,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RUVBL2,SCAF1,SEC1P,SEPW1,SHANK1,SIGLEC11,SIGLEC16,SLC17A7,SLC6A16,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SULT2A1,SULT2B1,SYNGR4,SYT3,TBC1D17,TEAD2,TMEM143,TPRX1,TRPM4,TSKS,TULP2,VRK3,ZNF114,ZNF473,ZNF541 chr19 48000000 51400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,CA11,CABP5,CARD8,CCDC114,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLEC11A,CPT1C,CRX,CYTH2,DBP,DHDH,DKKL1,EHD2,ELSPBP1,EMC10,EMP3,FAM71E1,FAM83E,FCGRT,FGF21,FLJ26850,FLT3LG,FTL,FUT1,FUT2,FUZ,GLTSCR1,GLTSCR2,GPR32,GRIN2D,GRWD1,GYS1,HRC,HSD17B14,IL4I1,IRF3,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KLK1,KLK15,KLK2,KLK3,KLKP1,LHB,LIG1,LIN7B,LMTK3,LOC100505812,LOC100507003,LRRC4B,MAMSTR,MED25,MGC45922,MIR150,MIR4324,MIR4749,MIR4750,MIR4751,MIR5088,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R15A,PRMT1,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,RASIP1,RCN3,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RUVBL2,SCAF1,SEC1P,SEPW1,SHANK1,SIGLEC11,SIGLEC16,SLC17A7,SLC6A16,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SULT2A1,SULT2B1,SYNGR4,SYT3,TBC1D17,TEAD2,TMEM143,TPRX1,TRPM4,TSKS,TULP2,VRK3,ZNF114,ZNF473,ZNF541 chr19 48000000 51400000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,CA11,CABP5,CARD8,CCDC114,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLEC11A,CPT1C,CRX,CYTH2,DBP,DHDH,DKKL1,EHD2,ELSPBP1,EMC10,EMP3,FAM71E1,FAM83E,FCGRT,FGF21,FLJ26850,FLT3LG,FTL,FUT1,FUT2,FUZ,GLTSCR1,GLTSCR2,GPR32,GRIN2D,GRWD1,GYS1,HRC,HSD17B14,IL4I1,IRF3,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KLK1,KLK15,KLK2,KLK3,KLKP1,LHB,LIG1,LIN7B,LMTK3,LOC100505812,LOC100507003,LRRC4B,MAMSTR,MED25,MGC45922,MIR150,MIR4324,MIR4749,MIR4750,MIR4751,MIR5088,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R15A,PRMT1,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,RASIP1,RCN3,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RUVBL2,SCAF1,SEC1P,SEPW1,SHANK1,SIGLEC11,SIGLEC16,SLC17A7,SLC6A16,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SULT2A1,SULT2B1,SYNGR4,SYT3,TBC1D17,TEAD2,TMEM143,TPRX1,TRPM4,TSKS,TULP2,VRK3,ZNF114,ZNF473,ZNF541 chr19 48000000 51400000 Loss and deletion Multiple myeloma Array CGH 16616336 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BSPH1,C19orf48,C19orf73,C19orf76,C19orf81,CA11,CABP5,CARD8,CCDC114,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLEC11A,CPT1C,CRX,CYTH2,DBP,DHDH,DKKL1,EHD2,ELSPBP1,EMC10,EMP3,FAM71E1,FAM83E,FCGRT,FGF21,FLJ26850,FLT3LG,FTL,FUT1,FUT2,FUZ,GLTSCR1,GLTSCR2,GPR32,GRIN2D,GRWD1,GYS1,HRC,HSD17B14,IL4I1,IRF3,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KLK1,KLK15,KLK2,KLK3,KLKP1,LHB,LIG1,LIN7B,LMTK3,LOC100505812,LOC100507003,LRRC4B,MAMSTR,MED25,MGC45922,MIR150,MIR4324,MIR4749,MIR4750,MIR4751,MIR5088,MYBPC2,MYH14,NAPA,NAPA-AS1,NAPSA,NAPSB,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R15A,PRMT1,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,RASIP1,RCN3,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RUVBL2,SCAF1,SEC1P,SEPW1,SHANK1,SIGLEC11,SIGLEC16,SLC17A7,SLC6A16,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SULT2A1,SULT2B1,SYNGR4,SYT3,TBC1D17,TEAD2,TMEM143,TPRX1,TRPM4,TSKS,TULP2,VRK3,ZNF114,ZNF473,ZNF541 chr19 48000000 59128983 Gain Prostate cancer Array CGH 16573809 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,AURKC,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CRX,CTU1,CYTH2,DBP,DHDH,DKKL1,DNAAF3,DPRX,DUXA,EHD2,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FKBP1AP1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GLTSCR1,GLTSCR2,GP6,GPR32,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LOC646862,LRRC4B,MAMSTR,MBOAT7,MED25,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MZF1,NAPA,NAPA-AS1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS5,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SEPW1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC27A5,SLC6A16,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2A1,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TPRX1,TRAPPC2P1,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF541,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 48000706 48238985 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 EHD2,GLTSCR1,NAPA,NAPA-AS1,ZNF541 chr19 48003891 48003991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAPA,NAPA-AS1 chr19 48009277 48179318 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GLTSCR1,NAPA,ZNF541 chr19 48009277 48179318 Copy number gain Normal High-resolution SNP genotyping 21211785 GLTSCR1,NAPA,ZNF541 chr19 48009277 48249926 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,NAPA,ZNF541 chr19 48009277 48298330 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,NAPA,SEPW1,SNORD23,ZNF541 chr19 48009277 48323399 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,NAPA,SEPW1,SNORD23,TPRX1,ZNF541 chr19 48012965 48171792 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 GLTSCR1,NAPA,ZNF541 chr19 48012965 48188569 Duplication Normal Affymetrix 6.0 microarrays 20967226 GLTSCR1,NAPA,ZNF541 chr19 48012965 48448065 Duplication Normal Affymetrix 6.0 microarrays 20967226 CRX,EHD2,GLTSCR1,GLTSCR2,NAPA,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1,ZNF541 chr19 48012965 48448065 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CRX,EHD2,GLTSCR1,GLTSCR2,NAPA,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1,ZNF541 chr19 48024719 48427094 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C5,SNORD23,SULT2A1,TPRX1,ZNF541 chr19 48036972 48179318 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GLTSCR1,ZNF541 chr19 48036972 48179318 Copy number gain Normal High-resolution SNP genotyping 21211785 GLTSCR1,ZNF541 chr19 48040351 48051611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF541 chr19 48049852 48075711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF541 chr19 48049852 48075711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF541 chr19 48053542 48149894 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GLTSCR1,ZNF541 chr19 48061710 48213514 Copy number loss Normal High-resolution SNP genotyping 21211785 GLTSCR1 chr19 48061710 48218306 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1 chr19 48061710 48234139 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1 chr19 48061710 48234139 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1 chr19 48061710 48249926 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2 chr19 48061710 48295894 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,SEPW1,SNORD23 chr19 48061710 48295894 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,SEPW1,SNORD23 chr19 48061710 48323399 Copy number loss Normal High-resolution SNP genotyping 21211785 EHD2,GLTSCR1,GLTSCR2,SEPW1,SNORD23,TPRX1 chr19 48062458 48075719 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 48098079 48382492 Gain and loss Pancreatic cancer SNP array 17952125 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNORD23,SULT2A1,TPRX1 chr19 48098080 48113883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLTSCR1 chr19 48098080 48113883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLTSCR1 chr19 48103773 48125307 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLTSCR1 chr19 48104372 48373067 Loss Wilms tumour 250K Genotyping Arrays 21544195 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNORD23,TPRX1 chr19 48121727 48278658 Gain and loss Pancreatic cancer SNP array 17952125 EHD2,GLTSCR1,GLTSCR2,SNORD23 chr1 94812404 94823893 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 48136066 48458084 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1 chr19 48136066 48458084 Copy number gain Normal High-resolution SNP genotyping 21211785 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1 chr19 48145495 48146379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLTSCR1 chr19 48146458 48432793 Duplication Normal Affymetrix 6.0 microarrays 20967226 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C5,SNORD23,SULT2A1,TPRX1 chr19 48149894 48169274 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GLTSCR1 chr19 48164972 48454046 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1 chr19 48164972 48454046 Copy number gain Normal High-resolution SNP genotyping 21211785 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1 chr19 48169262 48346049 Duplication Normal Affymetrix 6.0 microarrays 20967226 CRX,EHD2,GLTSCR1,GLTSCR2,SEPW1,SNORD23,TPRX1 chr19 48169274 48216170 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GLTSCR1 chr1 9481876 9481976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 48194812 48225405 Deletion Schizophrenia NimbleGen HD2 platform 21346763 EHD2,GLTSCR1 chr19 48203648 48222504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHD2,GLTSCR1 chr19 48203648 48222504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHD2,GLTSCR1 chr19 48205990 48222382 Gain and loss Pancreatic cancer SNP array 17952125 EHD2,GLTSCR1 chr19 48216170 48225966 Gain or loss Normal Birdsuite, version 1.5.2 22087296 EHD2 chr19 48225966 48229218 Gain or loss Normal Birdsuite, version 1.5.2 22087296 EHD2 chr19 48228913 48229013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHD2 chr19 48229218 48234671 Gain or loss Normal Birdsuite, version 1.5.2 22087296 EHD2 chr19 48231861 48237238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHD2 chr19 48231875 48532604 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BSPH1,CRX,EHD2,ELSPBP1,GLTSCR2,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1 chr19 48231875 48532604 Copy number loss Normal High-resolution SNP genotyping 21211785 BSPH1,CRX,EHD2,ELSPBP1,GLTSCR2,SEPW1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNORD23,SULT2A1,TPRX1 chr19 48234671 48240854 Gain or loss Normal Birdsuite, version 1.5.2 22087296 EHD2 chr19 48240854 48248681 Gain or loss Normal Birdsuite, version 1.5.2 22087296 EHD2 chr19 48248681 48288811 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GLTSCR2,SEPW1,SNORD23 chr19 4825759 4826077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TICAM1 chr19 48260203 48278665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLTSCR2 chr19 48260203 48278665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLTSCR2 chr19 482733 493084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 482733 493084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 482733 493086 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 94827807 94858547 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 48288811 48295211 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 48292448 48293352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 48295211 48316883 Gain or loss Normal Birdsuite, version 1.5.2 22087296 TPRX1 chr19 48316883 48316884 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 48316884 48330776 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CRX chr19 48330095 48432793 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CRX,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C5,SULT2A1 chr19 48330776 48335220 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CRX chr19 48335220 48335221 Loss Normal Birdsuite, version 1.5.2 22087296 CRX chr19 48335221 48388815 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CRX,SULT2A1 chr19 48338624 48432805 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CRX,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C5,SULT2A1 chr19 48347697 48590893 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BSPH1,CABP5,ELSPBP1,PLA2G4C,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SULT2A1 chr19 48350666 48538222 Deletion Normal Affymetrix 6.0 microarrays 20967226 BSPH1,CABP5,ELSPBP1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SULT2A1 chr19 48362248 48382528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SULT2A1 chr19 48362248 48382528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SULT2A1 chr19 48380975 48458730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SULT2A1 chr19 48381840 48449576 Gain Normal 244K array 17666407 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5,SULT2A1 chr19 48383158 48445338 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5,SULT2A1 chr19 48388694 48401766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SULT2A1 chr19 48388694 48401766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SULT2A1 chr19 48388696 48401630 Gain and loss Pancreatic cancer SNP array 17952125 SULT2A1 chr19 48388815 48389173 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SULT2A1 chr19 48388815 48458499 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SULT2A1 chr19 48389173 48394873 Loss Normal Birdsuite, version 1.5.2 22087296 SULT2A1 chr19 48393880 48454467 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5 chr19 48394861 48445338 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 chr19 48394861 48448065 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 chr19 48394873 48448077 Loss Normal Birdsuite, version 1.5.2 22087296 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 chr19 48395332 48448065 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 chr19 48395332 48458499 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5 chr19 48398926 48398975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 48400215 48451335 Substitutions and indels small cell lung cancer array-CGH 20016488 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 chr19 4840215 4840310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLIN3 chr19 48405205 48448065 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 chr19 48405562 48448065 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 chr19 48407857 48458499 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5 chr19 48413380 48448065 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 chr19 4841449 4853879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLIN3 chr19 4841449 4853879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLIN3 chr19 48448077 48458499 Loss Normal Birdsuite, version 1.5.2 22087296 SNAR-A12,SNAR-A13,SNAR-C3 chr19 48449275 48465522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C5 chr19 48449275 48465522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C5 chr19 48449276 48465522 Gain and loss Pancreatic cancer SNP array 17952125 SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C5 chr19 48458499 48478518 Loss Normal Birdsuite, version 1.5.2 22087296 BSPH1,SNAR-C1,SNAR-C2,SNAR-C5 chr19 48463647 62802699 Substitutions and indels small cell lung cancer array-CGH 20016488 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,AURKC,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,BSPH1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,CA11,CABP5,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,CYTH2,DBP,DHDH,DKKL1,DNAAF3,DPRX,DUXA,ELSPBP1,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FKBP1AP1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GP6,GPR32,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LIG1,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LOC646862,LRRC4B,MAMSTR,MBOAT7,MED25,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MZF1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLA2G4C,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS5,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC27A5,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 48474925 48480310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BSPH1 chr19 48478518 48482591 Loss Normal Birdsuite, version 1.5.2 22087296 BSPH1 chr19 48499163 48500515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELSPBP1 chr19 48511889 48537928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CABP5,ELSPBP1 chr19 48523786 48547817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CABP5,ELSPBP1 chr19 48527336 48527399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELSPBP1 chr19 48549665 48559320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4C chr19 48549665 48559320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4C chr19 48568734 48569597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4C chr19 48571500 48575116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4C chr19 4859389 5029415 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ARRDC5,KDM4B,MIR4747,PLIN3,UHRF1 chr19 48602146 48602899 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G4C chr19 4860216 4860767 Gain and loss Pancreatic cancer SNP array 17952125 PLIN3 chr19 48602214 48614589 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G4C chr19 48602497 48614585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4C chr19 48602497 48614585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4C chr19 48603783 48604007 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G4C chr19 48603783 48604007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLA2G4C chr19 4860509 4913165 Gain or loss Breast cancer - 20668451 ARRDC5,PLIN3,UHRF1 chr19 4860509 4913165 Gain or loss Cancer - 20668451 ARRDC5,PLIN3,UHRF1 chr19 4860509 4913165 Gain or loss Lung cancer - 20668451 ARRDC5,PLIN3,UHRF1 chr19 4860509 4913165 Gain or loss Ovarian cancer - 20668451 ARRDC5,PLIN3,UHRF1 chr19 4860509 4913165 Gain or loss Pancreas cancer - 20668451 ARRDC5,PLIN3,UHRF1 chr19 4860509 4913165 Gain or loss Prostate cancer - 20668451 ARRDC5,PLIN3,UHRF1 chr19 4860510 4913162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARRDC5,PLIN3,UHRF1 chr19 4860510 4913162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARRDC5,PLIN3,UHRF1 chr19 4860513 4913160 Gain and loss Pancreatic cancer SNP array 17952125 ARRDC5,PLIN3,UHRF1 chr19 48608741 48617579 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PLA2G4C chr19 48612452 48651954 Loss Autism Exome sequencing and CGH 22495309 LIG1,PLA2G4C chr19 48634421 48670264 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIG1 chr19 48656001 48999500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CARD8,CCDC114,CYTH2,EMP3,GRIN2D,GRWD1,KCNJ14,KDELR1,LIG1,LMTK3,LOC100505812,SYNGR4,TMEM143,ZNF114 chr19 48656779 48661648 Gain and loss Pancreatic cancer SNP array 17952125 LIG1 chr19 48656786 48661671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIG1 chr19 48656786 48661671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIG1 chr19 48662931 48697567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIG1 chr19 48671106 48682648 Gain and loss Pancreatic cancer SNP array 17952125 LIG1 chr19 48671106 48700927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIG1 chr19 48671106 48700927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIG1 chr19 48673212 48673815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIG1 chr19 48692026 48700927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 48695049 48695081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 48702712 48723236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARD8 chr19 48702712 48723236 Gain and loss Pancreatic cancer SNP array 17952125 CARD8 chr19 48702712 48723236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARD8 chr19 48719237 48719337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARD8 chr19 48722838 48888066 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 CARD8,CCDC114,EMP3,KDELR1,LOC100505812,SYNGR4,TMEM143,ZNF114 chr19 48729169 48732122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARD8 chr19 48729169 48732122 Gain and loss Pancreatic cancer SNP array 17952125 CARD8 chr19 48729169 48732122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARD8 chr19 48729179 48732124 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CARD8 chr19 48739303 48771570 Gain or loss Breast cancer - 20668451 CARD8,LOC100505812 chr19 48739303 48771570 Gain or loss Cancer - 20668451 CARD8,LOC100505812 chr19 48739303 48771570 Gain or loss Lung cancer - 20668451 CARD8,LOC100505812 chr19 48739303 48771570 Gain or loss Ovarian cancer - 20668451 CARD8,LOC100505812 chr19 48739303 48771570 Gain or loss Pancreas cancer - 20668451 CARD8,LOC100505812 chr19 48739303 48771570 Gain or loss Prostate cancer - 20668451 CARD8,LOC100505812 chr19 48739304 48771555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CARD8,LOC100505812 chr19 48739304 48771555 Gain and loss Pancreatic cancer SNP array 17952125 CARD8,LOC100505812 chr19 48739304 48771555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CARD8,LOC100505812 chr19 48746898 62981821 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,AURKC,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,CA11,CACNG6,CACNG7,CACNG8,CARD8,CCDC106,CCDC114,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,CYTH2,DBP,DHDH,DKKL1,DNAAF3,DPRX,DUXA,EMC10,EMP3,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FIZ1,FKBP1AP1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GALP,GP6,GPR32,GRIN2D,GRWD1,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KCNJ14,KDELR1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC100505812,LOC100507003,LOC147646,LOC147670,LOC284379,LOC646862,LRRC4B,MAMSTR,MBOAT7,MED25,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MZF1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS5,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SEC1P,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC27A5,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2B1,SUV420H2,SYNGR4,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM143,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF114,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 48776594 48777993 Gain and loss Pancreatic cancer SNP array 17952125 ZNF114 chr19 48776594 48778085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF114 chr19 48787866 48791516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF114 chr19 48787866 48791516 Gain and loss Pancreatic cancer SNP array 17952125 ZNF114 chr19 48787866 48791516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF114 chr19 48792384 48795995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 48792384 48795995 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 48792384 48795995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 48803217 48815846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC114 chr19 48803217 48815846 Gain and loss Pancreatic cancer SNP array 17952125 CCDC114 chr19 48803217 48815846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC114 chr19 48816575 49174547 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CA11,CCDC114,CYTH2,DBP,EMP3,FAM83E,GRIN2D,GRWD1,KCNJ14,KDELR1,LMTK3,NTN5,RPL18,SEC1P,SPACA4,SPHK2,SULT2B1,SYNGR4,TMEM143 chr19 48816575 49362142 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCAT2,CA11,CCDC114,CYTH2,DBP,EMP3,FAM83E,FGF21,FUT1,FUT2,GRIN2D,GRWD1,HSD17B14,IZUMO1,KCNJ14,KDELR1,LMTK3,MAMSTR,NTN5,PLEKHA4,RASIP1,RPL18,SEC1P,SPACA4,SPHK2,SULT2B1,SYNGR4,TMEM143 chr19 48818362 48835831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC114,EMP3,TMEM143 chr19 48818362 48835831 Gain and loss Pancreatic cancer SNP array 17952125 CCDC114,EMP3,TMEM143 chr19 48818362 48835831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC114,EMP3,TMEM143 chr19 48842111 48866342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM143 chr19 48842111 48866342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM143 chr19 48842449 48866539 Gain and loss Pancreatic cancer SNP array 17952125 TMEM143 chr19 48856482 48856768 Gain and loss Pancreatic cancer SNP array 17952125 TMEM143 chr19 48856482 48856768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM143 chr19 48856492 48856768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM143 chr19 48859097 50122986 Gain Barrett's syndrome BAC array 19417022 ALDH16A1,BAX,BCAT2,C19orf73,CA11,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CYTH2,DBP,DHDH,DKKL1,FAM83E,FCGRT,FGF21,FLT3LG,FTL,FUT1,FUT2,GRIN2D,GRWD1,GYS1,HRC,HSD17B14,IZUMO1,KCNA7,KCNJ14,KDELR1,LHB,LIN7B,LMTK3,LOC100507003,MAMSTR,MIR150,MIR4324,NOSIP,NTF4,NTN5,NUCB1,PIH1D1,PLEKHA4,PPFIA3,PPP1R15A,PRR12,PRRG2,PTH2,RASIP1,RCN3,RPL13A,RPL13AP5,RPL18,RPS11,RUVBL2,SEC1P,SLC17A7,SLC6A16,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNRNP70,SPACA4,SPHK2,SULT2B1,SYNGR4,TEAD2,TMEM143,TRPM4,TULP2 chr1 94888681 94889583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCD3 chr19 48886912 48919203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRIN2D,KDELR1 chr19 48888433 48893040 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KDELR1 chr19 48912078 48916004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIN2D chr19 48912078 48916004 Gain and loss Pancreatic cancer SNP array 17952125 GRIN2D chr19 48912078 48916004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIN2D chr19 48927148 48950904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIN2D,GRWD1 chr19 48927148 48950904 Gain and loss Pancreatic cancer SNP array 17952125 GRIN2D,GRWD1 chr19 48927148 48950904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIN2D,GRWD1 chr19 48962525 48977249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYTH2,KCNJ14 chr19 48962525 48977249 Gain and loss Pancreatic cancer SNP array 17952125 CYTH2,KCNJ14 chr19 48962525 48977249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH2,KCNJ14 chr19 48972438 49549164 LOH Normal High-resolution SNP genotyping 21211785 BAX,BCAT2,CA11,CGB,CGB1,CGB2,CGB5,CYTH2,DBP,DHDH,FAM83E,FGF21,FTL,FUT1,FUT2,GYS1,HSD17B14,IZUMO1,LHB,LMTK3,MAMSTR,NTN5,NUCB1,PLEKHA4,PPP1R15A,RASIP1,RPL18,RUVBL2,SEC1P,SNAR-G1,SNAR-G2,SPACA4,SPHK2,SULT2B1,TULP2 chr19 48977626 48977673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYTH2 chr19 48986689 49136518 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DBP,FAM83E,LMTK3,RPL18,SPACA4,SPHK2,SULT2B1 chr19 48992233 49016626 Gain and loss Pancreatic cancer SNP array 17952125 LMTK3 chr19 48992235 48998439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMTK3 chr19 48992235 48998439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMTK3 chr19 49000000 56000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,BIRC8,BRSK1,C19orf48,C19orf73,C19orf76,C19orf81,CA11,CACNG6,CACNG7,CACNG8,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,DBP,DHDH,DKKL1,DNAAF3,DPRX,EMC10,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM83E,FAM90A27P,FCAR,FCGRT,FGF21,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUT1,FUT2,FUZ,GP6,GPR32,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LMTK3,LOC100129083,LOC100287534,LOC100507003,LOC147646,LOC284379,LRRC4B,MAMSTR,MBOAT7,MED25,MGC45922,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP12,NLRP2,NLRP7,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,OSCAR,PIH1D1,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RASIP1,RCN3,RDH13,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL18,RPL28,RPS11,RPS9,RRAS,RUVBL2,SCAF1,SEC1P,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPACA4,SPHK2,SPIB,SSC5D,SULT2B1,SUV420H2,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRPM4,TSEN34,TSKS,TTYH1,TULP2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF468,ZNF473,ZNF480,ZNF525,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF761,ZNF765,ZNF766,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF845,ZNF880 chr19 49011742 49044890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMTK3 chr19 49011742 49044890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMTK3 chr19 49023366 49044703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 49031394 49734852 LOH Normal High-resolution SNP genotyping 21211785 BAX,BCAT2,C19orf73,CA11,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,DBP,DHDH,FAM83E,FGF21,FTL,FUT1,FUT2,GYS1,HRC,HSD17B14,IZUMO1,KCNA7,LHB,LIN7B,MAMSTR,NTF4,NTN5,NUCB1,PLEKHA4,PPFIA3,PPP1R15A,RASIP1,RPL18,RUVBL2,SEC1P,SNAR-G1,SNAR-G2,SNRNP70,SPACA4,SPHK2,SULT2B1,TRPM4,TULP2 chr19 49068359 49076134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SULT2B1 chr19 49068359 49076134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SULT2B1 chr19 49069819 49076081 Gain and loss Pancreatic cancer SNP array 17952125 SULT2B1 chr19 49077112 49107598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM83E,SULT2B1 chr19 49079469 51179469 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCAT2,BCL2L12,C19orf73,C19orf76,C19orf81,CA11,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CPT1C,DBP,DHDH,DKKL1,EMC10,FAM71E1,FAM83E,FCGRT,FGF21,FLJ26850,FLT3LG,FTL,FUT1,FUT2,FUZ,GYS1,HRC,HSD17B14,IL4I1,IRF3,IZUMO1,IZUMO2,JOSD2,KCNA7,KCNC3,LHB,LIN7B,LOC100507003,LRRC4B,MAMSTR,MED25,MIR150,MIR4324,MIR4749,MIR4750,MIR4751,MIR5088,MYBPC2,MYH14,NAPSA,NAPSB,NOSIP,NR1H2,NTF4,NTN5,NUCB1,NUP62,PIH1D1,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R15A,PRMT1,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,RASIP1,RCN3,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RUVBL2,SCAF1,SEC1P,SHANK1,SIGLEC11,SIGLEC16,SLC17A7,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNRNP70,SPACA4,SPHK2,SPIB,SULT2B1,SYT3,TBC1D17,TEAD2,TRPM4,TSKS,TULP2,VRK3,ZNF473 chr1 94910096 94910196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCD3 chr19 49108623 49131251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM83E,RPL18,SPACA4,SPHK2 chr19 49108623 49131251 Gain and loss Pancreatic cancer SNP array 17952125 FAM83E,RPL18,SPACA4,SPHK2 chr19 49108623 49131251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83E,RPL18,SPACA4,SPHK2 chr1 94911066 94912305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCD3 chr19 49127007 49207192 Amplification Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 CA11,DBP,FUT2,NTN5,SEC1P,SPHK2 chr19 49147237 49163701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CA11,SEC1P chr19 49147237 49163701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CA11,SEC1P chr19 49149173 49149247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CA11,SEC1P chr19 49158719 49163348 Gain and loss Pancreatic cancer SNP array 17952125 SEC1P chr19 49180195 49194317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC1P chr19 49180195 49194317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC1P chr19 49180195 49209912 Gain and loss Pancreatic cancer SNP array 17952125 FUT2,SEC1P chr19 49195236 49209912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FUT2 chr19 49195236 49209912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUT2 chr19 49198916 49209912 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FUT2 chr19 49200000 49900000 Gain Acute lymphoblastic leukemia - 21339820 BAX,BCAT2,C19orf73,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,DHDH,DKKL1,FGF21,FTL,FUT1,FUT2,GYS1,HRC,HSD17B14,IZUMO1,KCNA7,LHB,LIN7B,MAMSTR,MIR4324,NTF4,NUCB1,PLEKHA4,PPFIA3,PPP1R15A,RASIP1,RUVBL2,SLC6A16,SNAR-G1,SNAR-G2,SNRNP70,TEAD2,TRPM4,TULP2 chr19 4920132 5104606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KDM4B,MIR4747,UHRF1 chr19 4920132 5104606 Gain and loss Pancreatic cancer SNP array 17952125 KDM4B,MIR4747,UHRF1 chr19 4920132 5104606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KDM4B,MIR4747,UHRF1 chr19 49207513 49229100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FUT2,MAMSTR,RASIP1 chr19 49207513 49229100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUT2,MAMSTR,RASIP1 chr19 49209746 49211215 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 49221345 49229100 Gain and loss Pancreatic cancer SNP array 17952125 MAMSTR,RASIP1 chr19 49221355 49229100 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAMSTR,RASIP1 chr19 49242907 49243007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASIP1 chr19 49248004 49263982 Gain and loss Pancreatic cancer SNP array 17952125 FGF21,FUT1,IZUMO1 chr19 4925071 4927218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UHRF1 chr19 49251170 49263270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF21,FUT1 chr1 94925779 94925879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCD3 chr19 49263313 49285605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 49263313 49285605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 49277014 49304317 Gain and loss Pancreatic cancer SNP array 17952125 BCAT2 chr19 49277075 49282167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 49288097 49288392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 49288097 49288397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 49288103 49288391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 49290337 49304317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAT2 chr19 49290337 49304317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAT2 chr19 49301301 49468900 Deletion Glioma mate-paired sequence 20126413 BAX,BCAT2,DHDH,FTL,HSD17B14,NUCB1,PLEKHA4,PPP1R15A,TULP2 chr19 49304722 49329095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAT2,HSD17B14 chr19 49304722 49329095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAT2,HSD17B14 chr19 49309381 49471708 Gain and loss Pancreatic cancer SNP array 17952125 BAX,BCAT2,DHDH,FTL,GYS1,HSD17B14,NUCB1,PLEKHA4,PPP1R15A,TULP2 chr19 49328643 56715789 Deletion Normal Arbitrated Peel-off 21527027 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCL2L12,BIRC8,BRSK1,C19orf48,C19orf73,C19orf76,C19orf81,CACNG6,CACNG7,CACNG8,CCDC106,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,DHDH,DKKL1,DNAAF3,DPRX,EMC10,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM90A27P,FCAR,FCGRT,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUZ,GALP,GP6,GPR32,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO2,JOSD2,KCNA7,KCNC3,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LOC100129083,LOC100287534,LOC100507003,LOC147646,LOC284379,LRRC4B,MBOAT7,MED25,MGC45922,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NUCB1,NUP62,OSCAR,PIH1D1,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPIB,SSC5D,SUV420H2,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5B chr19 49328643 56715789 Deletion Normal GeneGISTIC 21527027 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCL2L12,BIRC8,BRSK1,C19orf48,C19orf73,C19orf76,C19orf81,CACNG6,CACNG7,CACNG8,CCDC106,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,DHDH,DKKL1,DNAAF3,DPRX,EMC10,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM90A27P,FCAR,FCGRT,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUZ,GALP,GP6,GPR32,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO2,JOSD2,KCNA7,KCNC3,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LOC100129083,LOC100287534,LOC100507003,LOC147646,LOC284379,LRRC4B,MBOAT7,MED25,MGC45922,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NUCB1,NUP62,OSCAR,PIH1D1,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPIB,SSC5D,SUV420H2,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5B chr19 49328643 56715789 Deletion Normal Standard peel-off 21527027 ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,BAX,BCL2L12,BIRC8,BRSK1,C19orf48,C19orf73,C19orf76,C19orf81,CACNG6,CACNG7,CACNG8,CCDC106,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,DHDH,DKKL1,DNAAF3,DPRX,EMC10,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM90A27P,FCAR,FCGRT,FIZ1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUZ,GALP,GP6,GPR32,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO2,JOSD2,KCNA7,KCNC3,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LOC100129083,LOC100287534,LOC100507003,LOC147646,LOC284379,LRRC4B,MBOAT7,MED25,MGC45922,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NUCB1,NUP62,OSCAR,PIH1D1,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL28,RPS11,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPIB,SSC5D,SUV420H2,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5B chr19 49328643 63811651 Deletion Normal Arbitrated Peel-off 21527027 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,AURKC,BAX,BCL2L12,BIRC8,BRSK1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,CACNG6,CACNG7,CACNG8,CCDC106,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,DHDH,DKKL1,DNAAF3,DPRX,DUXA,EMC10,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM90A27P,FCAR,FCGRT,FIZ1,FKBP1AP1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUZ,GALP,GP6,GPR32,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO2,JOSD2,KCNA7,KCNC3,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC100507003,LOC147646,LOC147670,LOC284379,LOC646862,LRRC4B,MBOAT7,MED25,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MZF1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL28,RPS11,RPS5,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC27A5,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPIB,SSC5D,SUV420H2,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 49331399 63811651 Deletion Normal Standard GISTIC 21527027 A1BG,A1BG-AS1,ACPT,AKT1S1,ALDH16A1,AP2A1,ASPDH,ATF5,AURKC,BAX,BCL2L12,BIRC8,BRSK1,C19orf18,C19orf48,C19orf73,C19orf76,C19orf81,CACNG6,CACNG7,CACNG8,CCDC106,CCDC155,CD33,CD37,CDC42EP5,CEACAM18,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHMP2A,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,DHDH,DKKL1,DNAAF3,DPRX,DUXA,EMC10,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM90A27P,FCAR,FCGRT,FIZ1,FKBP1AP1,FLJ26850,FLJ30403,FLT3LG,FPR1,FPR2,FPR3,FTL,FUZ,GALP,GP6,GPR32,GYS1,HAS1,HRC,HSD17B14,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO2,JOSD2,KCNA7,KCNC3,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LHB,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LIN7B,LINC00085,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC100507003,LOC147646,LOC147670,LOC284379,LOC646862,LRRC4B,MBOAT7,MED25,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4324,MIR4749,MIR4750,MIR4751,MIR4752,MIR4754,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,MZF1,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NTF4,NUCB1,NUP62,OSCAR,PEG3,PEG3-AS1,PIH1D1,PLEKHA4,PNKP,POLD1,PPFIA3,PPP1R12C,PPP1R15A,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTH2,PTOV1,PTOV1-AS1,PTPRH,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL13A,RPL13AP5,RPL28,RPS11,RPS5,RPS9,RRAS,RUVBL2,SBK2,SCAF1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC17A7,SLC27A5,SLC6A16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SNRNP70,SPIB,SSC5D,SUV420H2,SYT3,SYT5,TARM1,TBC1D17,TEAD2,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TRPM4,TSEN34,TSKS,TTYH1,TULP2,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 49344688 49354114 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA4 chr19 49344688 49354329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA4 chr19 49344688 49354329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA4 chr19 49354190 49373676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA4 chr19 49354190 49373676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHA4 chr19 49355597 49373667 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHA4 chr19 49403409 49437772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DHDH,NUCB1 chr19 49408524 49433260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUCB1 chr19 49408524 49433260 Gain and loss Pancreatic cancer SNP array 17952125 NUCB1 chr19 49408524 49433260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUCB1 chr19 49444793 49501010 Gain and loss Pancreatic cancer SNP array 17952125 BAX,DHDH,FTL,GYS1,RUVBL2 chr19 49446158 49471302 Gain and loss Pancreatic cancer SNP array 17952125 BAX,DHDH,FTL chr19 49446158 49471308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAX,DHDH,FTL chr19 49446158 49471308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAX,DHDH,FTL chr19 49455915 49471308 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 BAX,FTL chr19 49482340 49501018 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 GYS1,RUVBL2 chr19 49482440 49505441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GYS1,RUVBL2 chr19 49482440 49505441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GYS1,RUVBL2 chr19 495027 500919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MADCAM1 chr19 495027 500919 Gain and loss Pancreatic cancer SNP array 17952125 MADCAM1 chr19 495027 500919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MADCAM1 chr19 49505397 49511154 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 RUVBL2 chr19 49522546 49552696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGB,CGB1,CGB2,CGB5,CGB8,SNAR-G1,SNAR-G2 chr19 49522546 49552696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGB,CGB1,CGB2,CGB5,CGB8,SNAR-G1,SNAR-G2 chr19 49522550 49552666 Gain and loss Pancreatic cancer SNP array 17952125 CGB,CGB1,CGB2,CGB5,CGB8,SNAR-G1,SNAR-G2 chr19 49537470 50323207 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 ALDH16A1,AP2A1,BCL2L12,C19orf73,C19orf76,CCDC155,CD37,CGB1,CGB5,CGB7,CGB8,CPT1C,DKKL1,FCGRT,FLT3LG,FUZ,HRC,IRF3,KCNA7,LIN7B,LOC100507003,MED25,MIR150,MIR4324,MIR5088,NOSIP,NTF4,PIH1D1,PPFIA3,PRMT1,PRR12,PRRG2,PTH2,RCN3,RPL13A,RPL13AP5,RPS11,RRAS,SCAF1,SLC17A7,SLC6A16,SNAR-G1,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNRNP70,TEAD2,TRPM4,TSKS chr19 49549164 49583816 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CGB7,CGB8,KCNA7,NTF4 chr19 4955828 5063262 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KDM4B,UHRF1 chr19 49569077 49569127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 49578319 49597595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNRNP70 chr19 49578319 49597595 Gain and loss Pancreatic cancer SNP array 17952125 SNRNP70 chr19 49578319 49597595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRNP70 chr19 49584196 49630585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C19orf73,LIN7B,PPFIA3,SNRNP70 chr19 49590872 49590941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRNP70 chr19 49595913 49596005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRNP70 chr19 49622266 49644505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf73,PPFIA3 chr19 49622266 49644505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf73,PPFIA3 chr19 49623292 49623341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPFIA3 chr19 49624338 49624712 Gain and loss Pancreatic cancer SNP array 17952125 PPFIA3 chr19 49625535 49644505 Gain and loss Pancreatic cancer SNP array 17952125 PPFIA3 chr19 49649595 49655696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HRC,PPFIA3 chr19 49668203 49669228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPM4 chr19 49668203 49710407 Gain and loss Pancreatic cancer SNP array 17952125 TRPM4 chr19 49671701 49696395 Gain and loss Pancreatic cancer SNP array 17952125 TRPM4 chr19 49671701 49696395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPM4 chr19 49694501 49696500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPM4 chr19 49697651 49725651 Gain and loss Pancreatic cancer SNP array 17952125 TRPM4 chr19 4970001 5102500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM4B chr19 49702051 49725388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPM4 chr19 49702051 49725388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPM4 chr19 49704105 49704205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPM4 chr19 4970775 4970834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM4B chr19 4970890 4970955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM4B chr19 49746396 49746480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 49765390 49765650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 49808780 49831921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4324,SLC6A16 chr19 49808780 49831921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4324,SLC6A16 chr19 49838501 50307500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH16A1,AP2A1,BCL2L12,C19orf76,CCDC155,CD37,CPT1C,DKKL1,FCGRT,FLT3LG,IRF3,LOC100507003,MIR150,MIR5088,NOSIP,PIH1D1,PRMT1,PRR12,PRRG2,PTH2,RCN3,RPL13A,RPL13AP5,RPS11,RRAS,SCAF1,SLC17A7,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,TEAD2,TSKS chr19 49839066 49858689 Gain and loss Pancreatic cancer SNP array 17952125 CD37,TEAD2 chr19 49839066 49858690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD37,TEAD2 chr19 49839066 49858690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD37,TEAD2 chr19 49866564 49879465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DKKL1 chr19 49866564 49879465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DKKL1 chr19 49867044 49878602 Gain and loss Pancreatic cancer SNP array 17952125 DKKL1 chr19 49878837 49879465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 49894332 49915341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC155 chr19 49894332 49915341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC155 chr19 49898446 49900989 Gain and loss Pancreatic cancer SNP array 17952125 CCDC155 chr19 49918855 49918955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC155 chr19 49932621 49932721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC17A7 chr19 49935628 49968137 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ALDH16A1,PIH1D1,SLC17A7 chr19 49943644 49955141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIH1D1,SLC17A7 chr19 49943644 49955141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIH1D1,SLC17A7 chr19 49943817 49955141 Gain or loss Breast cancer - 20668451 PIH1D1,SLC17A7 chr19 49943817 49955141 Gain or loss Cancer - 20668451 PIH1D1,SLC17A7 chr19 49943817 49955141 Gain or loss Lung cancer - 20668451 PIH1D1,SLC17A7 chr19 49943817 49955141 Gain or loss Ovarian cancer - 20668451 PIH1D1,SLC17A7 chr19 49943817 49955141 Gain or loss Pancreas cancer - 20668451 PIH1D1,SLC17A7 chr19 49943817 49955141 Gain or loss Prostate cancer - 20668451 PIH1D1,SLC17A7 chr19 49943820 49955140 Gain and loss Pancreatic cancer SNP array 17952125 PIH1D1,SLC17A7 chr19 49943870 49955140 Amplification or deletion Cancer Array CGH 17440070 PIH1D1,SLC17A7 chr19 49945103 49989651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALDH16A1,FLT3LG,PIH1D1 chr19 49960245 49960561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH16A1 chr19 49972966 49995736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972966 49995736 Gain and loss Pancreatic cancer SNP array 17952125 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972966 49995736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972987 49995731 Copy number Lung cancer - 20668451 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972987 49995731 Gain or loss Breast cancer - 20668451 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972987 49995731 Gain or loss Cancer - 20668451 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972987 49995731 Gain or loss Lung cancer - 20668451 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972987 49995731 Gain or loss Ovarian cancer - 20668451 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972987 49995731 Gain or loss Pancreas cancer - 20668451 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr19 49972987 49995731 Gain or loss Prostate cancer - 20668451 ALDH16A1,FLT3LG,RPL13A,RPL13AP5,SNORD32A,SNORD33,SNORD34,SNORD35A chr1 94997956 95072818 Gain and loss Pancreatic cancer SNP array 17952125 F3 chr19 50000000 53800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACPT,AKT1S1,AP2A1,ASPDH,ATF5,BCL2L12,BIRC8,C19orf48,C19orf76,C19orf81,CD33,CEACAM18,CLDND2,CLEC11A,CPT1C,CTU1,EMC10,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM90A27P,FCGRT,FLJ26850,FLJ30403,FPR1,FPR2,FPR3,FUZ,GPR32,HAS1,IGLON5,IL4I1,IRF3,IZUMO2,JOSD2,KCNC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LIM2,LINC00085,LOC100129083,LOC147646,LRRC4B,MED25,MGC45922,MIR125A,MIR150,MIR4749,MIR4750,MIR4751,MIR5088,MIR643,MIR99B,MIRLET7E,MYBPC2,MYH14,NAPSA,NAPSB,NKG7,NOSIP,NR1H2,NUP62,PNKP,POLD1,PPP2R1A,PRMT1,PRR12,PRRG2,PTOV1,PTOV1-AS1,RCN3,RPS11,RRAS,SCAF1,SHANK1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SPIB,SYT3,TBC1D17,TSKS,VN1R2,VN1R4,VRK3,VSIG10L,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF347,ZNF350,ZNF415,ZNF432,ZNF468,ZNF473,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF766,ZNF808,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF880 chr19 50000000 53800000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ACPT,AKT1S1,AP2A1,ASPDH,ATF5,BCL2L12,BIRC8,C19orf48,C19orf76,C19orf81,CD33,CEACAM18,CLDND2,CLEC11A,CPT1C,CTU1,EMC10,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM90A27P,FCGRT,FLJ26850,FLJ30403,FPR1,FPR2,FPR3,FUZ,GPR32,HAS1,IGLON5,IL4I1,IRF3,IZUMO2,JOSD2,KCNC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LIM2,LINC00085,LOC100129083,LOC147646,LRRC4B,MED25,MGC45922,MIR125A,MIR150,MIR4749,MIR4750,MIR4751,MIR5088,MIR643,MIR99B,MIRLET7E,MYBPC2,MYH14,NAPSA,NAPSB,NKG7,NOSIP,NR1H2,NUP62,PNKP,POLD1,PPP2R1A,PRMT1,PRR12,PRRG2,PTOV1,PTOV1-AS1,RCN3,RPS11,RRAS,SCAF1,SHANK1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SPIB,SYT3,TBC1D17,TSKS,VN1R2,VN1R4,VRK3,VSIG10L,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF347,ZNF350,ZNF415,ZNF432,ZNF468,ZNF473,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF766,ZNF808,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF880 chr19 50000000 53800000 Loss Glioblastoma multiforme aCGH 21080181 ACPT,AKT1S1,AP2A1,ASPDH,ATF5,BCL2L12,BIRC8,C19orf48,C19orf76,C19orf81,CD33,CEACAM18,CLDND2,CLEC11A,CPT1C,CTU1,EMC10,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM90A27P,FCGRT,FLJ26850,FLJ30403,FPR1,FPR2,FPR3,FUZ,GPR32,HAS1,IGLON5,IL4I1,IRF3,IZUMO2,JOSD2,KCNC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LIM2,LINC00085,LOC100129083,LOC147646,LRRC4B,MED25,MGC45922,MIR125A,MIR150,MIR4749,MIR4750,MIR4751,MIR5088,MIR643,MIR99B,MIRLET7E,MYBPC2,MYH14,NAPSA,NAPSB,NKG7,NOSIP,NR1H2,NUP62,PNKP,POLD1,PPP2R1A,PRMT1,PRR12,PRRG2,PTOV1,PTOV1-AS1,RCN3,RPS11,RRAS,SCAF1,SHANK1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SPIB,SYT3,TBC1D17,TSKS,VN1R2,VN1R4,VRK3,VSIG10L,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF347,ZNF350,ZNF415,ZNF432,ZNF468,ZNF473,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF766,ZNF808,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF880 chr19 50000000 57600000 Loss Acute lymphoblastic leukemia array CGH 17690704 ACPT,AKT1S1,AP2A1,ASPDH,ATF5,BCL2L12,BIRC8,BRSK1,C19orf48,C19orf76,C19orf81,CACNG6,CACNG7,CACNG8,CCDC106,CD33,CDC42EP5,CEACAM18,CLDND2,CLEC11A,CNOT3,COX6B2,CPT1C,CTU1,DNAAF3,DPRX,EMC10,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E1,FAM71E2,FAM90A27P,FCAR,FCGRT,FIZ1,FLJ26850,FLJ30403,FPR1,FPR2,FPR3,FUZ,GALP,GP6,GPR32,HAS1,HSPBP1,IGLON5,IL11,IL4I1,IRF3,ISOC2,IZUMO2,JOSD2,KCNC3,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LINC00085,LOC100128252,LOC100129083,LOC100287534,LOC147646,LOC147670,LOC284379,LRRC4B,MBOAT7,MED25,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR150,MIR371A,MIR371B,MIR372,MIR373,MIR4749,MIR4750,MIR4751,MIR4752,MIR498,MIR5088,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MYBPC2,MYH14,NAPSA,NAPSB,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,NOSIP,NR1H2,NUP62,OSCAR,PEG3,PEG3-AS1,PNKP,POLD1,PPP1R12C,PPP2R1A,PPP6R1,PRKCG,PRMT1,PRPF31,PRR12,PRRG2,PTOV1,PTOV1-AS1,PTPRH,RCN3,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS11,RPS9,RRAS,SBK2,SCAF1,SGK110,SHANK1,SHISA7,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNORD35B,SNORD88A,SNORD88B,SNORD88C,SPIB,SSC5D,SUV420H2,SYT3,SYT5,TARM1,TBC1D17,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TSKS,TTYH1,U2AF2,UBE2S,VN1R2,VN1R4,VRK3,VSIG10L,VSTM1,ZFP28,ZIM2,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF331,ZNF347,ZNF350,ZNF415,ZNF432,ZNF444,ZNF468,ZNF470,ZNF471,ZNF473,ZNF480,ZNF524,ZNF525,ZNF528,ZNF534,ZNF542,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF761,ZNF765,ZNF766,ZNF784,ZNF787,ZNF808,ZNF813,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN5A,ZSCAN5B chr19 50004178 50016517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCGRT chr19 50004178 50016517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCGRT chr19 50004217 50016511 Gain and loss Pancreatic cancer SNP array 17952125 FCGRT chr19 50041233 50084325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOSIP,RCN3 chr19 50041233 50084325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOSIP,RCN3 chr19 50041425 50083476 Gain and loss Pancreatic cancer SNP array 17952125 NOSIP,RCN3 chr19 50086328 50098775 Gain and loss Pancreatic cancer SNP array 17952125 PRR12,PRRG2 chr19 50086334 50098775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR12,PRRG2 chr19 50086334 50098775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR12,PRRG2 chr19 50100879 50104489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR12 chr19 50100879 50104489 Gain and loss Pancreatic cancer SNP array 17952125 PRR12 chr19 50100879 50104489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR12 chr1 95010244 95055012 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 50109419 50114423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR12 chr19 50109419 50114423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR12 chr19 50109419 50126154 Gain and loss Pancreatic cancer SNP array 17952125 PRR12 chr19 50116884 50116937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRR12 chr19 50137335 50144660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RRAS chr19 50137335 50144660 Gain and loss Pancreatic cancer SNP array 17952125 RRAS chr19 50137335 50144660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRAS chr19 50150477 50188438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L12,IRF3,MIR5088,PRMT1,SCAF1 chr19 50150477 50188438 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L12,IRF3,MIR5088,PRMT1,SCAF1 chr19 50150477 50188438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L12,IRF3,MIR5088,PRMT1,SCAF1 chr19 50162749 50162849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IRF3 chr19 50165453 50166427 Loss Normal 244K array 17666407 IRF3 chr19 50196539 50233292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPT1C chr19 50196539 50233292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPT1C chr19 50196551 50233292 Gain or loss Breast cancer - 20668451 CPT1C chr19 50196551 50233292 Gain or loss Cancer - 20668451 CPT1C chr19 50196551 50233292 Gain or loss Lung cancer - 20668451 CPT1C chr19 50196551 50233292 Gain or loss Ovarian cancer - 20668451 CPT1C chr19 50196551 50233292 Gain or loss Pancreas cancer - 20668451 CPT1C chr19 50196551 50233292 Gain or loss Prostate cancer - 20668451 CPT1C chr19 50196552 50233292 Gain and loss Pancreatic cancer SNP array 17952125 CPT1C chr19 50234138 50266054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSKS chr19 50234138 50266054 Gain and loss Pancreatic cancer SNP array 17952125 TSKS chr19 50234138 50266054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSKS chr19 50242556 50242659 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 50242556 50242659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50266599 50271528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP2A1 chr19 50266599 50271528 Gain and loss Pancreatic cancer SNP array 17952125 AP2A1 chr19 50266599 50271528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP2A1 chr19 50274370 50286622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP2A1 chr19 50274370 50286622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP2A1 chr19 50274387 50286622 Gain and loss Pancreatic cancer SNP array 17952125 AP2A1 chr19 50288058 50341570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP2A1,FUZ,MED25 chr19 50288058 50342377 Gain and loss Pancreatic cancer SNP array 17952125 AP2A1,FUZ,MED25,PTOV1-AS1 chr19 50307501 50376000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKT1S1,AP2A1,FUZ,MED25,MIR4749,PNKP,PTOV1,PTOV1-AS1 chr19 50323666 50324127 Gain and loss Pancreatic cancer SNP array 17952125 MED25 chr19 50323666 50324127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED25 chr19 50338727 50338779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED25 chr19 50342285 50342385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTOV1-AS1 chr19 50347036 50348868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTOV1-AS1 chr19 50347036 50348868 Gain and loss Pancreatic cancer SNP array 17952125 PTOV1-AS1 chr19 50347036 50348868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTOV1-AS1 chr19 50358027 50373325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKT1S1,PNKP,PTOV1 chr19 50358027 50373325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKT1S1,PNKP,PTOV1 chr19 50358027 50373335 Gain and loss Pancreatic cancer SNP array 17952125 AKT1S1,PNKP,PTOV1 chr19 50358143 53057498 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 ACPT,AKT1S1,ASPDH,ATF5,C19orf48,C19orf81,CD33,CEACAM18,CLDND2,CLEC11A,CTU1,EMC10,ETFB,FAM71E1,FLJ26850,FLJ30403,FPR1,FPR2,FPR3,GPR32,HAS1,IGLON5,IL4I1,IZUMO2,JOSD2,KCNC3,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LIM2,LINC00085,LOC100129083,LOC147646,LRRC4B,MGC45922,MIR125A,MIR4750,MIR4751,MIR643,MIR99B,MIRLET7E,MYBPC2,MYH14,NAPSA,NAPSB,NKG7,NR1H2,NUP62,PNKP,POLD1,PPP2R1A,PTOV1,SHANK1,SIGLEC10,SIGLEC11,SIGLEC12,SIGLEC14,SIGLEC16,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SNAR-F,SNORD88A,SNORD88B,SNORD88C,SPIB,SYT3,TBC1D17,VRK3,VSIG10L,ZNF175,ZNF350,ZNF432,ZNF473,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF610,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF766,ZNF808,ZNF836,ZNF841,ZNF880 chr19 50373842 50376898 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 AKT1S1 chr19 50373891 50375003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AKT1S1 chr19 50373891 50375003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AKT1S1 chr19 50374395 50375003 Gain and loss Pancreatic cancer SNP array 17952125 AKT1S1 chr19 50376001 50956500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AKT1S1,ATF5,FLJ26850,IL4I1,IZUMO2,KCNC3,MIR4750,MIR4751,MYBPC2,MYH14,NAPSA,NAPSB,NR1H2,NUP62,POLD1,SIGLEC11,SIGLEC16,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,SPIB,TBC1D17,VRK3,ZNF473 chr19 50407719 50429309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL4I1,NUP62 chr19 50407719 50429309 Gain and loss Pancreatic cancer SNP array 17952125 IL4I1,NUP62 chr19 50407719 50429309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL4I1,NUP62 chr19 50434116 50434199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF5 chr19 50446390 50500381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIGLEC11,SIGLEC16,VRK3 chr19 50446390 50500381 Gain and loss Pancreatic cancer SNP array 17952125 SIGLEC11,SIGLEC16,VRK3 chr19 50446390 50500381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIGLEC11,SIGLEC16,VRK3 chr19 50481118 50481218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VRK3 chr19 50501512 50517974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VRK3 chr19 50501512 50517974 Gain and loss Pancreatic cancer SNP array 17952125 VRK3 chr19 50501512 50517974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VRK3 chr19 5052138 5052231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM4B chr19 50527796 50528237 Gain and loss Pancreatic cancer SNP array 17952125 VRK3 chr19 50527796 50528237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VRK3 chr19 50534285 50534479 Gain and loss Pancreatic cancer SNP array 17952125 ZNF473 chr19 50535838 50546618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF473 chr19 50535838 50546618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF473 chr19 50535851 50546618 Gain and loss Pancreatic cancer SNP array 17952125 ZNF473 chr19 50542545 50583764 Gain Normal Birdsuite, version 1.5.2 22087296 FLJ26850,ZNF473 chr19 50546086 50565675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ26850,ZNF473 chr19 50546086 50565675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ26850,ZNF473 chr19 50546685 50566016 Gain or loss Breast cancer - 20668451 FLJ26850,ZNF473 chr19 50546685 50566016 Gain or loss Cancer - 20668451 FLJ26850,ZNF473 chr19 50546685 50566016 Gain or loss Lung cancer - 20668451 FLJ26850,ZNF473 chr19 50546685 50566016 Gain or loss Ovarian cancer - 20668451 FLJ26850,ZNF473 chr19 50546685 50566016 Gain or loss Pancreas cancer - 20668451 FLJ26850,ZNF473 chr19 50546685 50566016 Gain or loss Prostate cancer - 20668451 FLJ26850,ZNF473 chr19 50546686 50565669 Gain and loss Pancreatic cancer SNP array 17952125 FLJ26850,ZNF473 chr19 50553864 50565482 Amplification or deletion Cancer Array CGH 17440070 FLJ26850 chr19 50574732 50601447 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50574736 50588265 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 50574741 50600136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50574741 50600136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr1 95058523 95133389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 95058523 95133389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50589751 50601407 Gain and loss Pancreatic cancer SNP array 17952125 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50595848 50596172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50601307 50605864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50601307 50605864 Gain and loss Pancreatic cancer SNP array 17952125 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50601307 50605864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50604711 50673926 Gain or loss Breast cancer - 20668451 IZUMO2,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D chr19 50604711 50673926 Gain or loss Cancer - 20668451 IZUMO2,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D chr19 50604711 50673926 Gain or loss Lung cancer - 20668451 IZUMO2,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D chr19 50604711 50673926 Gain or loss Ovarian cancer - 20668451 IZUMO2,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D chr19 50604711 50673926 Gain or loss Pancreas cancer - 20668451 IZUMO2,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D chr19 50604711 50673926 Gain or loss Prostate cancer - 20668451 IZUMO2,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D chr19 50604712 50619017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50604712 50619017 Gain and loss Pancreatic cancer SNP array 17952125 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50604712 50619017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50608532 50618642 Copy number Autism exome sequencing 22495311 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 chr19 50641706 50642298 Gain Normal 244K array 17666407 NOT_FOUND chr1 950651 957540 Gain and loss Pancreatic cancer SNP array 17952125 AGRN chr19 506569 50546686 Copy number Autism exome sequencing 22495311 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ACTN4,ADAMTS10,ADAMTSL5,ADAT3,ADCK4,AES,AKAP8,AKAP8L,AKT1S1,AKT2,ALDH16A1,ALKBH6,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANKRD27,ANO8,AP1M1,AP1M2,AP2A1,AP2S1,AP3D1,APBA3,APC2,APLP1,APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,ARHGAP33,ARHGAP35,ARHGEF1,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATF5,ATG4D,ATP13A1,ATP1A3,ATP4A,ATP5D,ATP5SL,ATP8B3,AXL,AZU1,B3GNT3,B3GNT8,B9D2,BABAM1,BAX,BBC3,BCAM,BCAT2,BCKDHA,BCL2L12,BCL3,BEST2,BLOC1S3,BLVRB,BRD4,BSG,BSPH1,BST2,BTBD2,C19orf10,C19orf12,C19orf21,C19orf24,C19orf25,C19orf26,C19orf33,C19orf35,C19orf38,C19orf40,C19orf42,C19orf43,C19orf44,C19orf45,C19orf47,C19orf52,C19orf53,C19orf54,C19orf55,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf69,C19orf70,C19orf71,C19orf73,C19orf76,C19orf77,C19orf80,C3,C3P1,C5AR1,CA11,CABP5,CACNA1A,CACTIN,CACTIN-AS1,CADM4,CALM3,CALR,CALR3,CAMSAP3,CAPN12,CAPNS1,CAPS,CARD8,CARM1,CASP14,CATSPERD,CATSPERG,CBLC,CC2D1A,CCDC105,CCDC114,CCDC124,CCDC130,CCDC151,CCDC155,CCDC159,CCDC61,CCDC8,CCDC9,CCDC94,CCDC97,CCL25,CCNE1,CD177,CD209,CD22,CD320,CD37,CD3EAP,CD70,CD79A,CD97,CDC34,CDC37,CDKN2D,CEACAM1,CEACAM16,CEACAM19,CEACAM20,CEACAM21,CEACAM22P,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CEACAM8,CEBPA,CEBPA-AS1,CEBPG,CELF5,CEP89,CERS1,CERS4,CFD,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CHAF1A,CHERP,CHST8,CIB3,CIC,CILP2,CIRBP,CIRBP-AS1,CKM,CLASRP,CLC,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLIP3,CLPP,CLPTM1,CNFN,CNN1,CNN2,CNTD2,COL5A3,COMP,COPE,COX6B1,COX7A1,CPAMD8,CPT1C,CRB3,CREB3L3,CRLF1,CRTC1,CRX,CSNK1G2,CSNK1G2-AS1,CTXN1,CXCL17,CYP2A13,CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2F1,CYP2G1P,CYP2S1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,CYTH2,DACT3,DACT3-AS1,DAND5,DAPK3,DAZAP1,DBP,DCAF15,DDA1,DDX39A,DDX49,DEDD2,DENND1C,DHDH,DHPS,DHX34,DIRAS1,DKFZp434J0226,DKFZp566F0947,DKKL1,DLL3,DMKN,DMPK,DMRTC2,DMWD,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPF1,DPP9,DPY19L3,DUS3L,DYRK1B,EBI3,ECH1,ECSIT,EEF2,EFNA2,EGLN2,EHD2,EID2,EID2B,EIF3G,EIF3K,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,ELSPBP1,EML2,EMP3,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,ERCC1,ERCC2,ERF,ETHE1,ETV2,EVI5L,EXOC3L2,EXOSC5,F2RL3,FAM108A1,FAM125A,FAM129C,FAM187B,FAM32A,FAM83E,FAM98C,FARSA,FBL,FBN3,FBXL12,FBXO17,FBXO27,FBXO46,FBXW9,FCER2,FCGBP,FCGRT,FCHO1,FDX1L,FEM1A,FFAR1,FFAR2,FFAR3,FGF21,FGF22,FKBP8,FKRP,FLJ22184,FLJ25328,FLJ25758,FLT3LG,FOSB,FOXA3,FSD1,FSTL3,FTL,FUT1,FUT2,FUT3,FUT5,FUT6,FUZ,FXYD1,FXYD3,FXYD5,FXYD7,FZR1,GADD45B,GADD45GIP1,GAMT,GAPDHS,GATAD2A,GCDH,GDF1,GDF15,GEMIN7,GGN,GIPC1,GIPC3,GIPR,GLT25D1,GLTSCR1,GLTSCR2,GMFG,GMIP,GNA11,GNA15,GNG7,GNG8,GPATCH1,GPI,GPR108,GPR4,GPR77,GPX4,GRAMD1A,GRIK5,GRIN2D,GRIN3B,GRWD1,GSK3A,GTF2F1,GTPBP3,GYS1,GZMM,HAMP,HAPLN4,HAUS5,HAUS8,HAVCR1P1,HCN2,HCST,HDGFRP2,HIF3A,HIPK4,HKR1,HMG20B,HMHA1,HNRNPL,HNRNPM,HNRNPUL1,HOMER3,HOOK2,HPN,HRC,HSD11B1L,HSD17B14,HSH2D,HSPB6,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IGFL1,IGFL2,IGFL3,IGFL4,IGFLR1,IGSF23,IL12RB1,IL27RA,IL28A,IL28B,IL29,IL4I1,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,IRF2BP1,IRF3,IRGC,IRGQ,ISYNA1,ITPKC,IZUMO1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNA7,KCNJ14,KCNK6,KCNN1,KCNN4,KCTD15,KDELR1,KDM4B,KEAP1,KHSRP,KIAA0355,KIAA1683,KIRREL2,KISS1R,KLC3,KLF1,KLF16,KLF2,KLHL26,KPTN,KRI1,KRTDAP,KXD1,LDLR,LEUTX,LGALS13,LGALS14,LGALS16,LGALS17A,LGALS4,LGALS7,LGALS7B,LGI4,LHB,LIG1,LIN37,LIN7B,LINC00661,LINC00662,LINC00663,LINC00665,LINGO3,LIPE,LMNB2,LMTK3,LOC100128568,LOC100128573,LOC100128675,LOC100128682,LOC100129935,LOC100131094,LOC100134317,LOC100287177,LOC100288123,LOC100289650,LOC100379224,LOC100505495,LOC100505622,LOC100505715,LOC100505812,LOC100505835,LOC100506469,LOC100507003,LOC100507373,LOC100507433,LOC100631378,LOC100652909,LOC100996307,LOC113230,LOC148145,LOC284344,LOC284385,LOC284395,LOC284412,LOC284454,LOC388499,LOC388553,LOC400680,LOC400684,LOC400685,LOC440518,LOC641367,LOC643669,LOC644189,LOC644554,LOC728752,LOC729966,LONP1,LPAR2,LPHN1,LPPR2,LPPR3,LRFN1,LRFN3,LRG1,LRP3,LRRC25,LRRC8E,LSM14A,LSM4,LSM7,LSR,LTBP4,LYL1,LYPD3,LYPD4,LYPD5,MAG,MAMSTR,MAN2B1,MAP1S,MAP2K2,MAP2K7,MAP3K10,MAP4K1,MARCH2,MARK4,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED25,MED26,MED29,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEGF8,MEIS3,MEX3D,MFSD12,MIA,MIA-RAB4B,MIDN,MIR1181,MIR1227,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR150,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3190,MIR3191,MIR320E,MIR330,MIR3940,MIR4321,MIR4322,MIR4323,MIR4324,MIR4530,MIR4531,MIR4745,MIR4746,MIR4747,MIR4748,MIR4749,MIR4750,MIR4751,MIR4999,MIR5088,MIR5196,MIR637,MIR638,MIR639,MIR641,MIR642A,MIR642B,MIR7-3,MIR7-3HG,MIR769,MKNK2,MLL4,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MRPS12,MUC16,MUM1,MYO1F,MYO9B,MYPOP,NACC1,NANOS2,NANOS3,NAPA,NAPA-AS1,NCAN,NCCRP1,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NFKBIB,NFKBID,NKPD1,NMRK2,NOSIP,NOTCH3,NOVA2,NPAS1,NPHS1,NR2C2AP,NR2F6,NRTN,NTF4,NTN5,NUCB1,NUDT19,NUMBL,NUP62,NWD1,NXNL1,OAZ1,OCEL1,OLFM2,ONECUT3,OPA3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,OVOL3,P2RY11,PAF1,PAFAH1B3,PAK4,PALM,PALM3,PAPL,PBX4,PCP2,PCSK4,PDCD2L,PDCD5,PDE4A,PDE4C,PEPD,PET100,PEX11G,PGLS,PGLYRP1,PGLYRP2,PGPEP1,PHLDB3,PIAS4,PIH1D1,PIK3R2,PIN1,PINLYP,PIP5K1C,PKN1,PLA2G4C,PLAC2,PLAUR,PLD3,PLEKHA4,PLEKHF1,PLEKHG2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNKP,PNMAL1,PNMAL2,PNPLA6,PODNL1,POLR2E,POLR2I,POLRMT,POP4,POU2F2,PPAN,PPAN-P2RY11,PPFIA3,PPM1N,PPP1R13L,PPP1R14A,PPP1R15A,PPP1R37,PPP5C,PPP5D1,PRAM1,PRDX2,PRG1,PRKACA,PRKCSH,PRKD2,PRMT1,PRODH2,PRR12,PRR19,PRR22,PRR24,PRRG2,PRSS57,PRTN3,PRX,PSENEN,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,PSMC4,PSMD8,PSPN,PTBP1,PTGER1,PTGIR,PTH2,PTOV1,PTOV1-AS1,PTPRS,PVR,PVRL2,QPCTL,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB4B,RAB4B-EGLN2,RAB8A,RABAC1,RAD23A,RANBP3,RASAL3,RASGRP4,RASIP1,RAVER1,RAX2,RBM42,RCN3,RDH8,REEP6,RELB,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RGS9BP,RHPN2,RINL,RLN3,RNASEH2A,RNF126,RNU6-66,RPL13A,RPL13AP5,RPL18,RPL18A,RPL36,RPS11,RPS15,RPS16,RPS19,RPS28,RPSAP58,RRAS,RSPH6A,RTBDN,RTN2,RUVBL2,RYR1,S1PR2,S1PR4,S1PR5,SAE1,SAFB,SAFB2,SAMD1,SAMD4B,SARS2,SBNO2,SBSN,SCAF1,SCAMP4,SCGB1B2P,SCGB2B2,SCGB2B3P,SCN1B,SDHAF1,SEC1P,SELV,SEMA6B,SEPW1,SERTAD1,SERTAD3,SF3A2,SGTA,SH2D3A,SH3GL1,SHD,SHKBP1,SIGLEC11,SIGLEC16,SIN3B,SIPA1L3,SIRT2,SIRT6,SIX5,SLC17A7,SLC1A5,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SLC6A16,SLC7A10,SLC7A9,SLC8A2,SMARCA4,SMG9,SNAPC2,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-E,SNAR-G1,SNAR-G2,SNORA68,SNORD105,SNORD105B,SNORD23,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNORD37,SNORD41,SNRNP70,SNRPA,SNRPD2,SPACA4,SPC24,SPHK2,SPINT2,SPPL2B,SPRED3,SPTBN4,SRRM5,SSBP4,STAP2,STK11,STRN4,STX10,STXBP2,SUGP1,SUGP2,SULT2A1,SULT2B1,SUPT5H,SWSAP1,SYCE2,SYCN,SYDE1,SYMPK,SYNE4,SYNGR4,TBC1D17,TBCB,TBXA2R,TCF3,TDRD12,TEAD2,TECR,TEX101,TGFB1,TGFBR3L,THAP8,THEG5,THOP1,TICAM1,TIMM13,TIMM44,TIMM50,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM143,TMEM145,TMEM147,TMEM160,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMEM91,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TOMM40,TPGS1,TPM4,TPRX1,TRAPPC5,TRAPPC6A,TRIP10,TRMT1,TRPM4,TSHZ3,TSKS,TSPAN16,TSSK6,TTC9B,TUBB4A,TULP2,TYK2,TYROBP,U2AF1L4,UBA2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UPK1A,UPK1A-AS1,UQCR11,UQCRFS1,URI1,USE1,USF2,USHBP1,VASP,VAV1,VMAC,VRK3,VSTM2B,WDR18,WDR62,WDR83,WDR83OS,WDR87,WDR88,WIZ,WTIP,XAB2,XRCC1,YIF1B,YIPF2,YJEFN3,ZBTB32,ZBTB7A,ZC3H4,ZFP112,ZFP14,ZFP30,ZFP36,ZFP82,ZFR2,ZGLP1,ZNF100,ZNF101,ZNF114,ZNF121,ZNF136,ZNF14,ZNF146,ZNF155,ZNF177,ZNF180,ZNF181,ZNF20,ZNF208,ZNF221,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF227,ZNF229,ZNF230,ZNF233,ZNF234,ZNF235,ZNF253,ZNF254,ZNF257,ZNF260,ZNF266,ZNF283,ZNF284,ZNF285,ZNF296,ZNF30,ZNF302,ZNF317,ZNF333,ZNF345,ZNF358,ZNF382,ZNF383,ZNF404,ZNF414,ZNF420,ZNF426,ZNF428,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF45,ZNF461,ZNF473,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF507,ZNF526,ZNF527,ZNF529,ZNF536,ZNF540,ZNF541,ZNF546,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF565,ZNF566,ZNF567,ZNF568,ZNF569,ZNF57,ZNF570,ZNF571,ZNF573,ZNF574,ZNF575,ZNF576,ZNF585A,ZNF585B,ZNF599,ZNF607,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF77,ZNF780A,ZNF780B,ZNF781,ZNF788,ZNF790,ZNF790-AS1,ZNF791,ZNF792,ZNF793,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF829,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF850,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZNRF4,ZSWIM4 chr19 50663092 50670277 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 IZUMO2 chr19 50663092 50670277 Gain or loss Breast cancer - 20668451 IZUMO2 chr19 50663092 50670277 Gain or loss Cancer - 20668451 IZUMO2 chr19 50663092 50670277 Gain or loss Lung cancer - 20668451 IZUMO2 chr19 50663092 50670277 Gain or loss Ovarian cancer - 20668451 IZUMO2 chr19 50663092 50670277 Gain or loss Pancreas cancer - 20668451 IZUMO2 chr19 50663092 50670277 Gain or loss Prostate cancer - 20668451 IZUMO2 chr19 50663093 50670254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IZUMO2 chr19 50663093 50670254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IZUMO2 chr19 50663093 50670276 Gain and loss Pancreatic cancer SNP array 17952125 IZUMO2 chr19 50680390 50692153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50680390 50692153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50680396 50692153 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 50683875 50697608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50693705 50697406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50693705 50697406 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 50693705 50697406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50702528 50722076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH14 chr19 50702528 50722076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH14 chr19 50702610 50722076 Gain and loss Pancreatic cancer SNP array 17952125 MYH14 chr19 50722525 50779940 Gain and loss Pancreatic cancer SNP array 17952125 MYH14 chr19 50722864 50779962 Copy number Autosomal-dominant optic trophy a targeted comparative genomic hybridization (CGH) 21036400 MYH14 chr19 50722867 50779962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH14 chr19 50722867 50779962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH14 chr1 95074530 95104722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 50784875 50797294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH14 chr19 50784875 50797294 Gain and loss Pancreatic cancer SNP array 17952125 MYH14 chr19 50784875 50797294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH14 chr19 50789820 50789954 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYH14 chr19 50804500 50834509 Gain and loss Pancreatic cancer SNP array 17952125 KCNC3,MYH14 chr19 50804500 50834509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNC3,MYH14 chr19 50822843 50822875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNC3 chr19 50834092 50834185 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 50834092 50834185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 50834092 50834185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50846608 50846900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAPSB chr19 50846608 50846901 Gain and loss Pancreatic cancer SNP array 17952125 NAPSB chr19 50846608 50846901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAPSB chr19 50863341 50877557 Gain or loss Breast cancer - 20668451 NAPSA chr19 50863341 50877557 Gain or loss Cancer - 20668451 NAPSA chr19 50863341 50877557 Gain or loss Lung cancer - 20668451 NAPSA chr19 50863341 50877557 Gain or loss Ovarian cancer - 20668451 NAPSA chr19 50863341 50877557 Gain or loss Pancreas cancer - 20668451 NAPSA chr19 50863341 50877557 Gain or loss Prostate cancer - 20668451 NAPSA chr19 50863342 50877544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAPSA chr19 50863342 50877544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAPSA chr19 50863342 50877557 Gain and loss Pancreatic cancer SNP array 17952125 NAPSA chr19 50870026 50870122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 50882559 50887282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR1H2 chr19 50882559 50887282 Gain and loss Pancreatic cancer SNP array 17952125 NR1H2 chr19 50882559 50887282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR1H2 chr19 50883461 50883493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR1H2 chr19 50887772 50898425 Gain and loss Pancreatic cancer SNP array 17952125 POLD1 chr19 50887772 50898426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLD1 chr19 50887772 50898426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLD1 chr19 50906323 50906933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLD1 chr19 50906323 50906933 Gain and loss Pancreatic cancer SNP array 17952125 POLD1 chr19 50906323 50906933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLD1 chr19 50943071 50943136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYBPC2 chr19 50956501 50982000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMC10,FAM71E1,MYBPC2 chr19 50959884 50964152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYBPC2 chr19 50959884 50964152 Gain and loss Pancreatic cancer SNP array 17952125 MYBPC2 chr19 50959884 50964152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYBPC2 chr19 50963450 50963494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYBPC2 chr19 50964816 50977655 Copy number Autism exome sequencing 22495311 FAM71E1,MYBPC2 chr19 50964818 50977655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM71E1,MYBPC2 chr19 50964818 50977655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM71E1,MYBPC2 chr19 50965586 50977450 Gain and loss Pancreatic cancer SNP array 17952125 FAM71E1,MYBPC2 chr19 50969201 50972900 Deletion Glioma mate-paired sequence 20126413 FAM71E1,MYBPC2 chr19 50970493 50971468 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM71E1 chr19 50978104 50987900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMC10,FAM71E1 chr19 50978104 50987900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMC10,FAM71E1 chr19 50979095 50987488 Gain and loss Pancreatic cancer SNP array 17952125 EMC10,FAM71E1 chr19 50982001 51009500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMC10,JOSD2 chr19 50990809 51010417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JOSD2 chr19 50990809 51010417 Gain and loss Pancreatic cancer SNP array 17952125 JOSD2 chr19 50990809 51010417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JOSD2 chr19 51009501 51014500 Copy number Normal ReadDepth: A Parallel R Package 21305028 JOSD2 chr19 51010540 51058388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASPDH,JOSD2,LRRC4B chr19 51010540 51058388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASPDH,JOSD2,LRRC4B chr19 51010541 51058245 Gain and loss Pancreatic cancer SNP array 17952125 ASPDH,JOSD2,LRRC4B chr19 51014501 51235500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASPDH,C19orf81,CLEC11A,JOSD2,LRRC4B,SHANK1,SNAR-F,SYT3 chr19 5102501 5238500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KDM4B,PTPRS chr1 95103146 96377428 LOH Normal High-resolution SNP genotyping 21211785 ALG14,CNN3,FLJ31662,LOC729970,RWDD3,SLC44A3,TMEM56,TMEM56-RWDD3 chr19 51059358 51068894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC4B chr19 51059358 51068894 Gain and loss Pancreatic cancer SNP array 17952125 LRRC4B chr19 51059358 51068894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC4B chr19 51079118 51080872 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51079118 51080872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51085123 51097702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51085125 51097702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51085125 51097702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51090682 51125124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNAR-F chr19 51109375 51109791 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51109375 51109791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51134631 51168497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf81,SHANK1,SYT3 chr19 51134631 51168497 Gain and loss Pancreatic cancer SNP array 17952125 C19orf81,SHANK1,SYT3 chr19 51134631 51168497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf81,SHANK1,SYT3 chr19 51148170 51148270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51152488 51152554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 95115290 95116119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 51171349 51176350 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SHANK1 chr19 51190179 51213714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHANK1 chr19 51190179 51213714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK1 chr19 5119382 5119460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM4B chr19 51198108 51213485 Gain and loss Pancreatic cancer SNP array 17952125 SHANK1 chr19 51202142 51202628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK1 chr19 51214030 51214147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK1 chr19 51214079 51214176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHANK1 chr19 51214255 51218144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SHANK1 chr19 51214255 51218144 Gain and loss Pancreatic cancer SNP array 17952125 SHANK1 chr19 51214255 51218144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHANK1 chr19 51221869 51221943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51234846 51238037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51234846 51238037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51240474 51380351 Copy number Lung cancer paired-end sequencing 18438408 ACPT,C19orf48,GPR32,KLK1,KLK15,KLK2,KLK3,MGC45922,SNORD88A,SNORD88B,SNORD88C chr19 51270000 63440000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 A1BG,A1BG-AS1,ACPT,AURKC,BIRC8,BRSK1,C19orf18,C19orf48,CACNG6,CACNG7,CACNG8,CCDC106,CD33,CDC42EP5,CEACAM18,CHMP2A,CLDND2,CNOT3,COX6B2,CTU1,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,FLJ30403,FPR1,FPR2,FPR3,GALP,GP6,GPR32,HAS1,HSPBP1,IGLON5,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK15,KLK2,KLK3,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LINC00085,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC147646,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MGC45922,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MZF1,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP2R1A,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC27A5,SNORD88A,SNORD88B,SNORD88C,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 51272384 51272486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51274062 51356385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACPT,C19orf48,GPR32,KLK1,KLK15,MGC45922,SNORD88A,SNORD88B,SNORD88C chr19 51274062 51356385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACPT,C19orf48,GPR32,KLK1,KLK15,MGC45922,SNORD88A,SNORD88B,SNORD88C chr19 51284716 51308599 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACPT,C19orf48,SNORD88A,SNORD88B,SNORD88C chr19 51309821 51309892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51314420 51320101 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 51314574 51320157 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 51314575 51320152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 51315168 51319771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51315168 51319771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51315168 51319771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51324988 51360184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLK1,KLK15,KLK3 chr19 51331842 51332704 Gain and loss Pancreatic cancer SNP array 17952125 KLK15 chr1 95133518 95133618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51339961 51340017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 95135097 95165294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 95135097 95165294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 513530 1325641 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ABCA7,ARID3A,ATP5D,AZU1,BSG,C19orf21,C19orf24,C19orf26,C19orf6,CDC34,CFD,CIRBP,CIRBP-AS1,CNN2,EFNA2,ELANE,FGF22,FSTL3,GPX4,GRIN3B,GZMM,HCN2,HMHA1,KISS1R,LPPR3,MED16,MIDN,MIR3187,MIR4745,PALM,POLR2E,POLRMT,PRSS57,PRTN3,PTBP1,R3HDM4,RNF126,SBNO2,STK11,TPGS1,WDR18 chr1 95137482 95137569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51378961 51435085 Gain Normal Birdsuite, version 1.5.2 22087296 KLK2,KLK4,KLKP1 chr19 51380501 51912000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD33,CLDND2,CTU1,ETFB,IGLON5,KLK10,KLK11,KLK12,KLK13,KLK14,KLK2,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LIM2,LOC147646,NKG7,SIGLEC17P,SIGLEC7,SIGLEC9,SIGLECL1,VSIG10L chr19 51383607 51383682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLK2 chr19 51395874 63811651 Copy number Lung cancer paired-end sequencing 18438408 A1BG,A1BG-AS1,AURKC,BIRC8,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CD33,CDC42EP5,CEACAM18,CHMP2A,CLDND2,CNOT3,COX6B2,CTU1,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,FLJ30403,FPR1,FPR2,FPR3,GALP,GP6,HAS1,HSPBP1,IGLON5,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,KLKP1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LINC00085,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC147646,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MZF1,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP2R1A,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 51400000 53600000 Gain Basal cell lymphoma Array CGH 19029149 CD33,CEACAM18,CLDND2,CTU1,ERVV-1,ERVV-2,ETFB,FLJ30403,FPR1,FPR2,FPR3,HAS1,IGLON5,KLK10,KLK11,KLK12,KLK13,KLK14,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,LIM2,LINC00085,LOC100129083,LOC147646,MIR125A,MIR643,MIR99B,MIRLET7E,NKG7,PPP2R1A,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,VSIG10L,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF350,ZNF432,ZNF468,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF701,ZNF702P,ZNF766,ZNF808,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF880 chr19 51400000 53600000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 CD33,CEACAM18,CLDND2,CTU1,ERVV-1,ERVV-2,ETFB,FLJ30403,FPR1,FPR2,FPR3,HAS1,IGLON5,KLK10,KLK11,KLK12,KLK13,KLK14,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,LIM2,LINC00085,LOC100129083,LOC147646,MIR125A,MIR643,MIR99B,MIRLET7E,NKG7,PPP2R1A,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,VSIG10L,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF350,ZNF432,ZNF468,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF701,ZNF702P,ZNF766,ZNF808,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF880 chr19 51400000 59128983 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 A1BG,A1BG-AS1,AURKC,BIRC8,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CD33,CDC42EP5,CEACAM18,CHMP2A,CLDND2,CNOT3,COX6B2,CTU1,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,FLJ30403,FPR1,FPR2,FPR3,GALP,GP6,HAS1,HSPBP1,IGLON5,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,KLK10,KLK11,KLK12,KLK13,KLK14,KLK4,KLK5,KLK6,KLK7,KLK8,KLK9,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LINC00085,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC147646,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MZF1,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP2R1A,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr1 95142384 95142468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51424849 51425793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51424849 51426340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 95142500 95142587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 95144683 95144775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51478926 51479026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51484755 53451790 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CD33,CEACAM18,CLDND2,CTU1,ETFB,FLJ30403,FPR1,FPR2,FPR3,HAS1,IGLON5,KLK10,KLK11,KLK12,KLK13,KLK14,KLK7,KLK8,KLK9,LIM2,LINC00085,LOC100129083,LOC147646,MIR125A,MIR643,MIR99B,MIRLET7E,NKG7,PPP2R1A,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC17P,SIGLEC5,SIGLEC6,SIGLEC7,SIGLEC8,SIGLEC9,SIGLECL1,VSIG10L,ZNF137P,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF350,ZNF432,ZNF468,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF701,ZNF766,ZNF808,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF880 chr19 51488646 51488974 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 51492143 51538530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLK10,KLK11,KLK12,KLK8,KLK9 chr19 51492143 51538530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLK10,KLK11,KLK12,KLK8,KLK9 chr19 51492144 51538530 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 KLK10,KLK11,KLK12,KLK8,KLK9 chr19 51492154 51538106 Gain and loss Pancreatic cancer SNP array 17952125 KLK10,KLK11,KLK12,KLK8,KLK9 chr19 51501567 51501674 Gain and loss Pancreatic cancer SNP array 17952125 KLK8 chr19 51501567 51501674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLK8 chr19 51501570 51501673 Gain and loss Pancreatic cancer SNP array 17952125 KLK8 chr19 51535512 51535577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLK12 chr19 515382 5141143 Copy number Autism exome sequencing 22495311 ABCA7,ADAMTSL5,ADAT3,AES,AMH,ANKRD24,AP3D1,APBA3,APC2,ARID3A,ARRDC5,ATCAY,ATP5D,ATP8B3,AZU1,BSG,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,C19orf71,C19orf77,CACTIN,CACTIN-AS1,CCDC94,CDC34,CELF5,CFD,CHAF1A,CIRBP,CIRBP-AS1,CNN2,CREB3L3,CSNK1G2,CSNK1G2-AS1,DAPK3,DAZAP1,DIRAS1,DOHH,DOT1L,DPP9,EBI3,EEF2,EFNA2,ELANE,FAM108A1,FEM1A,FGF22,FSD1,FSTL3,FZR1,GADD45B,GAMT,GIPC3,GNA11,GNA15,GNG7,GPX4,GRIN3B,GZMM,HCN2,HDGFRP2,HMG20B,HMHA1,IZUMO4,JSRP1,KDM4B,KISS1R,KLF16,LINGO3,LMNB2,LOC100131094,LOC100288123,LPPR3,LRG1,LSM7,MAP2K2,MATK,MBD3,MED16,MEX3D,MFSD12,MIDN,MIR1227,MIR1909,MIR3187,MIR4321,MIR4745,MIR4746,MIR4747,MIR637,MIR7-3,MIR7-3HG,MKNK2,MOB3A,MPND,MRPL54,MUM1,NCLN,NDUFS7,NFIC,NMRK2,OAZ1,ONECUT3,PALM,PCSK4,PIAS4,PIP5K1C,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,POLR2E,POLRMT,PRSS57,PRTN3,PTBP1,R3HDM4,RAX2,REEP6,REXO1,RNF126,RPS15,S1PR4,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH3GL1,SHD,SIRT6,SLC39A3,SNORD37,SPPL2B,STAP2,STK11,TBXA2R,TCF3,THOP1,TICAM1,TIMM13,TJP3,TLE2,TLE6,TMIGD2,TMPRSS9,TNFAIP8L1,TPGS1,UBXN6,UHRF1,UQCR11,WDR18,ZBTB7A,ZFR2,ZNF554,ZNF555,ZNF556,ZNF57,ZNF77 chr19 51542134 51585943 Gain and loss Pancreatic cancer SNP array 17952125 KLK13,KLK14 chr19 51542134 51585949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLK13,KLK14 chr19 51542134 51585949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLK13,KLK14 chr19 5156519 5291814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRS chr19 5156519 5291814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRS chr19 51570573 51570664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 5157379 5237399 Gain and loss Pancreatic cancer SNP array 17952125 PTPRS chr19 51587044 51587096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLK14 chr1 95160320 95250504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51606291 51607907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTU1 chr19 51606291 51607907 Gain and loss Pancreatic cancer SNP array 17952125 CTU1 chr19 51606291 51607907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTU1 chr19 51608236 51608336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTU1 chr1 95160838 95160938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51645244 51666638 Gain and loss Pancreatic cancer SNP array 17952125 SIGLEC7 chr19 51647942 51648268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SIGLEC7 chr19 51661587 51666660 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 51661590 51666660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51661590 51666660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51686293 51690562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51687121 51687200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51688655 51689686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51689681 51690853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9516901 9522000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr1 95173143 95173222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51796352 51805878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51796352 51805878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51796448 51805878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51797167 89944363 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 A1BG,A1BG-AS1,AURKC,BIRC8,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CEACAM18,CHMP2A,CLDND2,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,FLJ30403,FPR1,FPR2,FPR3,GALP,GP6,HAS1,HSPBP1,IGLON5,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LINC00085,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC147646,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MZF1,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP2R1A,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC5,SIGLEC6,SIGLEC8,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 51815564 51820194 Gain or loss Breast cancer - 20668451 IGLON5 chr19 51815564 51820194 Gain or loss Cancer - 20668451 IGLON5 chr19 51815564 51820194 Gain or loss Lung cancer - 20668451 IGLON5 chr19 51815564 51820194 Gain or loss Ovarian cancer - 20668451 IGLON5 chr19 51815564 51820194 Gain or loss Pancreas cancer - 20668451 IGLON5 chr19 51815564 51820194 Gain or loss Prostate cancer - 20668451 IGLON5 chr19 51815566 51820194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGLON5 chr19 51815566 51820194 Gain and loss Pancreatic cancer SNP array 17952125 IGLON5 chr19 51815566 51820194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGLON5 chr1 9518200 9520254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 51829173 51829779 Gain and loss Pancreatic cancer SNP array 17952125 IGLON5 chr19 51829173 51829782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGLON5 chr19 51829173 51829782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGLON5 chr1 95183886 95183986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 51842708 51856235 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ETFB,VSIG10L chr19 51842709 52742709 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 CEACAM18,CLDND2,ETFB,FLJ30403,FPR1,FPR2,FPR3,HAS1,LIM2,LINC00085,LOC100129083,LOC147646,MIR125A,MIR99B,MIRLET7E,NKG7,PPP2R1A,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC5,SIGLEC6,SIGLEC8,VSIG10L,ZNF175,ZNF350,ZNF432,ZNF577,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF836,ZNF841 chr19 51842712 51856235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ETFB,VSIG10L chr19 51842712 51856235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETFB,VSIG10L chr19 51843000 61443000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 A1BG,A1BG-AS1,AURKC,BIRC8,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CEACAM18,CHMP2A,CLDND2,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,FLJ30403,FPR1,FPR2,FPR3,GALP,GP6,HAS1,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LINC00085,LOC100128252,LOC100128398,LOC100129083,LOC100131691,LOC100287534,LOC147646,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,MZF1,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP2R1A,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC5,SIGLEC6,SIGLEC8,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSIG10L,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 51843579 51844793 Gain and loss Pancreatic cancer SNP array 17952125 VSIG10L chr19 51847710 51856161 Gain and loss Pancreatic cancer SNP array 17952125 ETFB chr19 51848501 58936821 Loss Neuroblastoma aCGH 20406844 A1BG,A1BG-AS1,AURKC,BIRC8,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CEACAM18,CLDND2,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,ERVV-1,ERVV-2,ETFB,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,FLJ30403,FPR1,FPR2,FPR3,GALP,GP6,HAS1,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LIM2,LINC00085,LOC100128252,LOC100128398,LOC100129083,LOC100287534,LOC147646,LOC147670,LOC284379,LOC646862,MBOAT7,MIMT1,MIR125A,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MIR99B,MIRLET7E,MYADM,NAT14,NCR1,NDUFA3,NKG7,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP2R1A,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SIGLEC10,SIGLEC12,SIGLEC14,SIGLEC5,SIGLEC6,SIGLEC8,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TSEN34,TTYH1,U2AF2,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSTM1,ZFP28,ZIK1,ZIM2,ZIM3,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF175,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF460,ZNF468,ZNF470,ZNF471,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 51869414 51912224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLDND2,ETFB,LIM2,LOC147646,NKG7 chr19 51869414 51912224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLDND2,ETFB,LIM2,LOC147646,NKG7 chr19 51869417 51911597 Gain and loss Pancreatic cancer SNP array 17952125 CLDND2,ETFB,LIM2,LOC147646,NKG7 chr1 9518760 9520515 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 51883894 51884165 Gain and loss Pancreatic cancer SNP array 17952125 LIM2 chr19 51883894 51884165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIM2 chr19 51883896 51884165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIM2 chr19 51904381 51904447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51904385 51904442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51908452 51908523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51908452 51908523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51912001 51928500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100129083,SIGLEC10 chr19 51914610 51941560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100129083,SIGLEC10 chr19 51914610 51941560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100129083,SIGLEC10 chr19 51914613 51941536 Gain and loss Pancreatic cancer SNP array 17952125 LOC100129083,SIGLEC10 chr19 51928501 52056000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEACAM18,SIGLEC12,SIGLEC6,SIGLEC8 chr19 51931409 51931516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51931410 51931515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51931410 51931515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51941143 51953581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51941143 51953581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 51943121 51953581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 51969982 51983653 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM18 chr19 51969982 51983691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEACAM18 chr19 51969982 51983691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEACAM18 chr19 51982912 51984136 Gain and loss Pancreatic cancer SNP array 17952125 CEACAM18 chr19 51996586 51996686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIGLEC12 chr19 52004681 52005254 Gain and loss Pancreatic cancer SNP array 17952125 SIGLEC12 chr19 52023748 52047637 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIGLEC6 chr19 52031294 53331283 Deletion Cancer Affymetrix 250K Sty array 20164920 FLJ30403,FPR1,FPR2,FPR3,HAS1,LINC00085,MIR125A,MIR643,MIR99B,MIRLET7E,PPP2R1A,SIGLEC14,SIGLEC5,SIGLEC6,ZNF137P,ZNF175,ZNF28,ZNF350,ZNF432,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF701,ZNF766,ZNF808,ZNF83,ZNF836,ZNF841,ZNF880 chr19 52033263 52046043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIGLEC6 chr19 52033263 52046043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIGLEC6 chr19 52033264 52045931 Gain and loss Pancreatic cancer SNP array 17952125 SIGLEC6 chr19 52044672 52044772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 52068037 52068105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 52070865 53777522 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ERVV-1,ERVV-2,FLJ30403,FPR1,FPR2,FPR3,HAS1,LINC00085,MIR125A,MIR643,MIR99B,MIRLET7E,PPP2R1A,SIGLEC14,SIGLEC5,VN1R2,VN1R4,ZNF137P,ZNF160,ZNF175,ZNF28,ZNF320,ZNF321P,ZNF347,ZNF350,ZNF415,ZNF432,ZNF468,ZNF480,ZNF528,ZNF534,ZNF577,ZNF578,ZNF600,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF665,ZNF677,ZNF701,ZNF702P,ZNF766,ZNF808,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF836,ZNF841,ZNF880 chr19 52076488 52076588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF175 chr19 52080146 52104499 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ30403,ZNF175 chr19 52080146 52106092 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ30403,ZNF175 chr19 52090645 52090745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF175 chr19 52101750 52101840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 52113773 52196472 Gain and loss Pancreatic cancer SNP array 17952125 MIR99B,MIRLET7E,SIGLEC14,SIGLEC5 chr19 52113773 52199404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00085,MIR125A,MIR99B,MIRLET7E,SIGLEC14,SIGLEC5 chr19 52113773 52199404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00085,MIR125A,MIR99B,MIRLET7E,SIGLEC14,SIGLEC5 chr19 52170612 52170998 Loss Normal 244K array 17666407 NOT_FOUND chr19 52180116 52242321 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 HAS1,LINC00085,MIR125A,MIR99B,MIRLET7E chr19 52183001 52293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FPR1,FPR2,HAS1,LINC00085,MIR125A,MIR99B,MIRLET7E chr19 52196889 52199655 Gain and loss Pancreatic cancer SNP array 17952125 LINC00085 chr1 95220867 95311095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC44A3 chr1 95220867 95311095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC44A3 chr19 52210608 52216464 Gain Normal 244K array 17666407 HAS1 chr1 9522115 9565415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9522115 9565415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 52214941 52240873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAS1 chr19 52214941 52240873 Gain and loss Pancreatic cancer SNP array 17952125 HAS1 chr19 52214941 52240873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAS1 chr19 52220076 52220542 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HAS1 chr19 52222586 52222761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HAS1 chr19 52230052 52261959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FPR1 chr19 522325 534492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC34 chr19 522325 534492 Gain and loss Pancreatic cancer SNP array 17952125 CDC34 chr19 522325 534492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC34 chr19 52241008 52243722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 52241008 52243722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 52241008 52243730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 52259289 52308849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FPR2,FPR3 chr19 52259289 52308849 Gain and loss Pancreatic cancer SNP array 17952125 FPR2,FPR3 chr19 52259289 52308849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FPR2,FPR3 chr19 52265156 52266086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FPR2 chr19 5230246 5230315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRS chr19 52318905 52334620 Gain Autism qPCR 20531469 FPR3 chr19 52325501 52327500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FPR3 chr19 52325960 52405287 Gain and loss Pancreatic cancer SNP array 17952125 FPR3,ZNF577,ZNF649 chr19 52326028 52405287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FPR3,ZNF577,ZNF649 chr19 52326028 52405287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FPR3,ZNF577,ZNF649 chr19 52367297 63776499 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 A1BG,A1BG-AS1,AURKC,BIRC8,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CHMP2A,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,ERVV-1,ERVV-2,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100128398,LOC100131691,LOC100287534,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MYADM,MZF1,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP2R1A,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF350,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF432,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF577,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF613,ZNF614,ZNF615,ZNF616,ZNF628,ZNF649,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF836,ZNF837,ZNF841,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 5238501 5246500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRS chr19 52415918 52427863 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 52415918 52427863 Gain or loss Cancer - 20668451 NOT_FOUND chr19 52415918 52427863 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 52415918 52427863 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 52415918 52427863 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 52415918 52427863 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 52415921 52427863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 52415924 52427699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 52416001 52422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 52422001 52427000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 52424063 52427597 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 52424063 52427597 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr19 52427001 52997000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR643,PPP2R1A,ZNF350,ZNF432,ZNF480,ZNF528,ZNF534,ZNF578,ZNF610,ZNF613,ZNF614,ZNF615,ZNF616,ZNF766,ZNF836,ZNF841,ZNF880 chr19 52437315 52551397 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF350,ZNF432,ZNF613,ZNF614,ZNF615 chr1 95244767 95244867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 52451632 52467048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 52451632 52467048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 52451632 52467048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 52460157 52463098 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr19 5246501 5449000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRS chr19 52467295 52645983 Loss Autism nested LR 20531469 ZNF350,ZNF432,ZNF614,ZNF615,ZNF616,ZNF841 chr19 52496196 52496275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF615 chr19 52504431 52504530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF615 chr19 52504943 52517167 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF614,ZNF615 chr19 52504944 52517167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF614,ZNF615 chr19 52504944 52517167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF614,ZNF615 chr19 52504971 52517172 Gain and loss Pancreatic cancer SNP array 17952125 ZNF614,ZNF615 chr19 52510932 52511032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF615 chr19 52535880 52537112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF432 chr19 52535880 52537112 Gain and loss Pancreatic cancer SNP array 17952125 ZNF432 chr19 52535880 52537112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF432 chr19 52544386 52577795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF432,ZNF841 chr19 52544386 52577795 Gain and loss Pancreatic cancer SNP array 17952125 ZNF432,ZNF841 chr19 52544386 52577795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF432,ZNF841 chr19 52549596 52717317 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 PPP2R1A,ZNF432,ZNF616,ZNF836,ZNF841 chr19 52549596 52717317 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PPP2R1A,ZNF432,ZNF616,ZNF836,ZNF841 chr19 5258139 5258217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRS chr19 52598194 52614357 Gain and loss Pancreatic cancer SNP array 17952125 ZNF841 chr19 52598204 52614597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF841 chr19 52598204 52614597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF841 chr19 52605072 52608585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 52623735 52666934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF616,ZNF836 chr19 52623735 52666934 Gain and loss Pancreatic cancer SNP array 17952125 ZNF616,ZNF836 chr19 52623735 52666934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF616,ZNF836 chr19 52670212 52679333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF836 chr19 52670212 52679333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF836 chr19 52670220 52679288 Gain and loss Pancreatic cancer SNP array 17952125 ZNF836 chr19 52682703 52710309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R1A chr19 52682703 52710309 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R1A chr19 52682703 52710309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R1A chr19 52715754 52750925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R1A chr19 52715754 52750925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R1A chr19 52715760 52740368 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R1A chr19 52760000 63790000 Gain Ductal carcinoma SNP array 22052326 A1BG,A1BG-AS1,AURKC,BIRC8,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CHMP2A,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,ERVV-1,ERVV-2,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100128398,LOC100131691,LOC100287534,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR643,MIR935,MYADM,MZF1,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF137P,ZNF154,ZNF160,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF28,ZNF304,ZNF320,ZNF321P,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF468,ZNF470,ZNF471,ZNF480,ZNF497,ZNF524,ZNF525,ZNF528,ZNF530,ZNF534,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF578,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF600,ZNF606,ZNF610,ZNF611,ZNF628,ZNF665,ZNF667,ZNF671,ZNF677,ZNF701,ZNF702P,ZNF71,ZNF749,ZNF761,ZNF765,ZNF766,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF808,ZNF813,ZNF814,ZNF816,ZNF816-ZNF321P,ZNF83,ZNF835,ZNF837,ZNF845,ZNF865,ZNF880,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 52766067 52766114 Loss Normal 244K array 17666407 NOT_FOUND chr19 52776092 52776388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF766 chr19 52776092 52776390 Gain and loss Pancreatic cancer SNP array 17952125 ZNF766 chr19 5285610 5285709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRS chr19 52874031 52898291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF880 chr19 52874031 52898291 Gain and loss Pancreatic cancer SNP array 17952125 ZNF880 chr19 52874031 52898291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF880 chr19 52887814 52888075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF880 chr19 52887930 52888071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF880 chr19 52908412 52938203 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF528,ZNF534 chr19 52908502 52938202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF528,ZNF534 chr19 52908502 52938202 Gain and loss Pancreatic cancer SNP array 17952125 ZNF528,ZNF534 chr19 52908502 52938202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF528,ZNF534 chr19 5291227 5291312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRS chr19 52923215 52923315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 52940613 52952126 Gain and loss Pancreatic cancer SNP array 17952125 ZNF534 chr19 52940620 52957851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF534,ZNF578 chr19 52940620 52957851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF534,ZNF578 chr1 95294848 95298524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC44A3 chr1 95295005 95370895 Gain and loss Pancreatic cancer SNP array 17952125 CNN3,SLC44A3 chr19 52950922 52951031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 52973153 52973253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF578 chr19 52973654 52979753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF578 chr19 52973654 52979753 Gain and loss Pancreatic cancer SNP array 17952125 ZNF578 chr19 52973654 52979753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF578 chr19 52989535 52989971 Gain and loss Pancreatic cancer SNP array 17952125 ZNF578 chr19 52989535 52989971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF578 chr19 52996312 52998673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF578 chr19 52996312 52998673 Gain and loss Pancreatic cancer SNP array 17952125 ZNF578 chr19 52996312 52998673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF578 chr19 52997001 53000000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF578 chr19 53000001 53021000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF578 chr19 53016911 53038393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF578,ZNF808 chr19 53016911 53038393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF578,ZNF808 chr19 53016976 53038392 Gain and loss Pancreatic cancer SNP array 17952125 ZNF578,ZNF808 chr19 53027000 53027366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 95303090 95303186 Gain and loss Pancreatic cancer SNP array 17952125 SLC44A3 chr19 53064534 53066073 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 53065682 53081405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF701 chr19 53065682 53081405 Gain and loss Pancreatic cancer SNP array 17952125 ZNF701 chr19 53065682 53081405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF701 chr19 53070465 53116053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF137P,ZNF701,ZNF83 chr19 53073059 53095260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF701 chr19 53086420 53143430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF137P,ZNF701,ZNF83 chr19 53093802 53093885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53098557 53152183 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 ZNF137P,ZNF83 chr19 53104230 53151423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53104872 53115264 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 53106385 53107401 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 53107478 53122676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53114407 53115234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 53136688 53141495 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53137908 53144500 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53140617 53143105 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53142854 53151467 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53144775 53174275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53144816 53146765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53144962 53161688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53145027 53175116 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53148193 53161382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr1 9531484 9565699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 53148944 53151552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53149183 53162891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF83 chr19 53150999 53151099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF83 chr19 53163115 53187239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF83 chr19 5316911 5338398 Copy number Autism exome sequencing 22495311 PTPRS chr19 53171787 53172574 Gain and loss Pancreatic cancer SNP array 17952125 ZNF83 chr1 95317709 95317809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC44A3 chr19 53178403 53192305 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ZNF83 chr19 53189720 53220215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF611,ZNF83 chr19 53189720 53220215 Gain and loss Pancreatic cancer SNP array 17952125 ZNF611,ZNF83 chr19 53189720 53220215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF611,ZNF83 chr19 53189742 53220217 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZNF611,ZNF83 chr19 53210832 53917176 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 BIRC8,ERVV-1,ERVV-2,FAM90A27P,VN1R2,VN1R4,ZNF160,ZNF28,ZNF320,ZNF321P,ZNF347,ZNF415,ZNF468,ZNF525,ZNF600,ZNF611,ZNF665,ZNF677,ZNF702P,ZNF765,ZNF816,ZNF816-ZNF321P,ZNF845 chr19 53225023 53239116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF611 chr19 53225023 53239116 Gain and loss Pancreatic cancer SNP array 17952125 ZNF611 chr19 53225023 53239116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF611 chr19 53241784 53275738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF600 chr19 53242916 53305865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF28,ZNF600 chr19 53242916 53305865 Gain and loss Pancreatic cancer SNP array 17952125 ZNF28,ZNF600 chr19 53242916 53305865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF28,ZNF600 chr19 53246493 53246578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53272264 53273540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF600 chr19 53287453 53306360 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF28,ZNF600 chr19 53310515 53365372 Gain and loss Pancreatic cancer SNP array 17952125 ZNF28,ZNF468 chr19 53310519 53365395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF28,ZNF468 chr19 53310519 53365395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF28,ZNF468 chr19 53331080 53331163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 53341095 53420161 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF320,ZNF468 chr19 53365761 53392689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF320 chr19 53365761 53392689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF320 chr19 53366859 53392328 Gain and loss Pancreatic cancer SNP array 17952125 ZNF320 chr19 53375839 53399021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF320 chr19 53381719 53388209 Gain and loss Pancreatic cancer SNP array 17952125 ZNF320 chr1 9533824 9577099 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 53396564 53401246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 53403154 53444737 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZNF321P,ZNF816-ZNF321P chr19 53403154 53450962 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF321P,ZNF816-ZNF321P chr19 53403325 53444737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF321P,ZNF816-ZNF321P chr19 53403325 53444737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF321P,ZNF816-ZNF321P chr19 53405557 53450955 Gain and loss Pancreatic cancer SNP array 17952125 ZNF321P,ZNF816-ZNF321P chr1 95342501 95342684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC44A3 chr1 95342702 95342866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC44A3 chr19 53466466 53482675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF702P chr19 53466466 53482675 Gain and loss Pancreatic cancer SNP array 17952125 ZNF702P chr19 53466466 53482675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF702P chr19 53485501 53801500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BIRC8,ERVV-1,ERVV-2,FAM90A27P,VN1R2,VN1R4,ZNF160,ZNF347,ZNF415,ZNF665,ZNF677,ZNF702P chr19 53491526 53516997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF702P chr19 53491526 53516997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF702P chr19 53491556 53491585 Loss Normal 244K array 17666407 ZNF702P chr19 53492045 53516997 Gain and loss Pancreatic cancer SNP array 17952125 ZNF702P chr19 53520454 53525622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53520454 53525622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 53520454 53525622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53527425 53559009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERVV-2 chr19 53527425 53559009 Gain and loss Pancreatic cancer SNP array 17952125 ERVV-2 chr19 53527425 53559009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERVV-2 chr1 95355572 95431462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNN3,LOC729970,SLC44A3 chr1 95355572 95431462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNN3,LOC729970,SLC44A3 chr19 53559469 53571439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF160 chr19 53559469 53571439 Gain and loss Pancreatic cancer SNP array 17952125 ZNF160 chr19 53559469 53571439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF160 chr19 53577639 53586622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF160 chr19 53577639 53586622 Gain and loss Pancreatic cancer SNP array 17952125 ZNF160 chr19 53577639 53586622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF160 chr19 53589944 53639205 Gain and loss Pancreatic cancer SNP array 17952125 ZNF160,ZNF415 chr19 53589944 53639999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF160,ZNF415 chr19 53589944 53639999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF160,ZNF415 chr19 53600000 56300000 Copy number Breast cancer 32K, 33K and 38K array-based CGH 20459607 BIRC8,BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FAM90A27P,FCAR,FIZ1,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100287534,LOC284379,MBOAT7,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP2,NLRP7,NLRP9,OSCAR,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VN1R2,VN1R4,VSTM1,ZNF160,ZNF331,ZNF347,ZNF415,ZNF524,ZNF525,ZNF579,ZNF580,ZNF581,ZNF628,ZNF665,ZNF677,ZNF761,ZNF765,ZNF784,ZNF813,ZNF845,ZNF865 chr19 53600000 56300000 Gain Basal cell lymphoma Array CGH 19029149 BIRC8,BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FAM90A27P,FCAR,FIZ1,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100287534,LOC284379,MBOAT7,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP2,NLRP7,NLRP9,OSCAR,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VN1R2,VN1R4,VSTM1,ZNF160,ZNF331,ZNF347,ZNF415,ZNF524,ZNF525,ZNF579,ZNF580,ZNF581,ZNF628,ZNF665,ZNF677,ZNF761,ZNF765,ZNF784,ZNF813,ZNF845,ZNF865 chr19 53600000 56300000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 BIRC8,BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FAM90A27P,FCAR,FIZ1,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100287534,LOC284379,MBOAT7,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP2,NLRP7,NLRP9,OSCAR,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VN1R2,VN1R4,VSTM1,ZNF160,ZNF331,ZNF347,ZNF415,ZNF524,ZNF525,ZNF579,ZNF580,ZNF581,ZNF628,ZNF665,ZNF677,ZNF761,ZNF765,ZNF784,ZNF813,ZNF845,ZNF865 chr19 53600000 56300000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 BIRC8,BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FAM90A27P,FCAR,FIZ1,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100287534,LOC284379,MBOAT7,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP2,NLRP7,NLRP9,OSCAR,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VN1R2,VN1R4,VSTM1,ZNF160,ZNF331,ZNF347,ZNF415,ZNF524,ZNF525,ZNF579,ZNF580,ZNF581,ZNF628,ZNF665,ZNF677,ZNF761,ZNF765,ZNF784,ZNF813,ZNF845,ZNF865 chr19 53600000 56300000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 BIRC8,BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FAM90A27P,FCAR,FIZ1,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100287534,LOC284379,MBOAT7,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP2,NLRP7,NLRP9,OSCAR,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VN1R2,VN1R4,VSTM1,ZNF160,ZNF331,ZNF347,ZNF415,ZNF524,ZNF525,ZNF579,ZNF580,ZNF581,ZNF628,ZNF665,ZNF677,ZNF761,ZNF765,ZNF784,ZNF813,ZNF845,ZNF865 chr19 53600000 56300000 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 BIRC8,BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FAM90A27P,FCAR,FIZ1,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100287534,LOC284379,MBOAT7,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP2,NLRP7,NLRP9,OSCAR,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VN1R2,VN1R4,VSTM1,ZNF160,ZNF331,ZNF347,ZNF415,ZNF524,ZNF525,ZNF579,ZNF580,ZNF581,ZNF628,ZNF665,ZNF677,ZNF761,ZNF765,ZNF784,ZNF813,ZNF845,ZNF865 chr19 53600000 56300000 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 BIRC8,BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FAM90A27P,FCAR,FIZ1,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100287534,LOC284379,MBOAT7,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP2,NLRP7,NLRP9,OSCAR,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VN1R2,VN1R4,VSTM1,ZNF160,ZNF331,ZNF347,ZNF415,ZNF524,ZNF525,ZNF579,ZNF580,ZNF581,ZNF628,ZNF665,ZNF677,ZNF761,ZNF765,ZNF784,ZNF813,ZNF845,ZNF865 chr19 53600000 59128983 Amplification Myelodysplastic syndrome 50K HindIII (50K), 250K StyI (250K), or 250K NspI+250K StyI (500K) SNP microarray chips 17634407 A1BG,A1BG-AS1,AURKC,BIRC8,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CHMP2A,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,FAM71E2,FAM90A27P,FCAR,FIZ1,FKBP1AP1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100128398,LOC100131691,LOC100287534,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,MZF1,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VN1R2,VN1R4,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF160,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF347,ZNF415,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF524,ZNF525,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF628,ZNF665,ZNF667,ZNF671,ZNF677,ZNF71,ZNF749,ZNF761,ZNF765,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF813,ZNF814,ZNF835,ZNF837,ZNF845,ZNF865,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr1 95361718 95361802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 95363655 95363753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNN3 chr19 53640874 53648966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF347 chr19 53640874 53648966 Gain and loss Pancreatic cancer SNP array 17952125 ZNF347 chr19 53640874 53648966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF347 chr19 53650578 53661179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF347 chr19 53650578 53661179 Gain and loss Pancreatic cancer SNP array 17952125 ZNF347 chr19 53650578 53661179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF347 chr19 53664420 53674457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF665 chr19 53664420 53674457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF665 chr19 53664424 53674457 Gain and loss Pancreatic cancer SNP array 17952125 ZNF665 chr19 53671423 53677036 Gain and loss Pancreatic cancer SNP array 17952125 ZNF665 chr19 53680339 53708258 Gain or loss Breast cancer - 20668451 ZNF665 chr19 53680339 53708258 Gain or loss Cancer - 20668451 ZNF665 chr19 53680339 53708258 Gain or loss Lung cancer - 20668451 ZNF665 chr19 53680339 53708258 Gain or loss Ovarian cancer - 20668451 ZNF665 chr19 53680339 53708258 Gain or loss Pancreas cancer - 20668451 ZNF665 chr19 53680339 53708258 Gain or loss Prostate cancer - 20668451 ZNF665 chr19 53680340 53708258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF665 chr19 53680340 53708258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF665 chr19 53680342 53708231 Gain and loss Pancreatic cancer SNP array 17952125 ZNF665 chr19 53719248 53719329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 953735 954344 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 53747241 53794495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BIRC8,FAM90A27P,VN1R2,VN1R4,ZNF677 chr19 53747241 53794495 Gain and loss Pancreatic cancer SNP array 17952125 BIRC8,FAM90A27P,VN1R2,VN1R4,ZNF677 chr19 53747241 53794495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIRC8,FAM90A27P,VN1R2,VN1R4,ZNF677 chr19 53755341 53755423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF677 chr19 53795669 53808506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53795669 53808506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53795879 53808631 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 53800000 57600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FCAR,FIZ1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100287534,LOC147670,LOC284379,MBOAT7,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VSTM1,ZFP28,ZIM2,ZNF331,ZNF444,ZNF470,ZNF471,ZNF524,ZNF525,ZNF542,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF628,ZNF667,ZNF71,ZNF761,ZNF765,ZNF784,ZNF787,ZNF813,ZNF835,ZNF845,ZNF865,ZSCAN5A,ZSCAN5B chr19 53800000 57600000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FCAR,FIZ1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100287534,LOC147670,LOC284379,MBOAT7,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VSTM1,ZFP28,ZIM2,ZNF331,ZNF444,ZNF470,ZNF471,ZNF524,ZNF525,ZNF542,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF628,ZNF667,ZNF71,ZNF761,ZNF765,ZNF784,ZNF787,ZNF813,ZNF835,ZNF845,ZNF865,ZSCAN5A,ZSCAN5B chr19 53800000 57600000 Loss Glioblastoma multiforme aCGH 21080181 BRSK1,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CNOT3,COX6B2,DNAAF3,DPRX,EPN1,EPS8L1,FAM71E2,FCAR,FIZ1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100287534,LOC147670,LOC284379,MBOAT7,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS9,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TSEN34,TTYH1,U2AF2,UBE2S,VSTM1,ZFP28,ZIM2,ZNF331,ZNF444,ZNF470,ZNF471,ZNF524,ZNF525,ZNF542,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF628,ZNF667,ZNF71,ZNF761,ZNF765,ZNF784,ZNF787,ZNF813,ZNF835,ZNF845,ZNF865,ZSCAN5A,ZSCAN5B chr19 53800000 59100000 Duplication Heart disease Illumina 633Quad Beadchip platform 21282601 A1BG,A1BG-AS1,AURKC,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CHMP2A,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,FAM71E2,FCAR,FIZ1,FKBP1AP1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100128398,LOC100131691,LOC100287534,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,MZF1,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF524,ZNF525,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF628,ZNF667,ZNF671,ZNF71,ZNF749,ZNF761,ZNF765,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF813,ZNF814,ZNF835,ZNF837,ZNF845,ZNF865,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 53800000 59100000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 A1BG,A1BG-AS1,AURKC,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CHMP2A,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,FAM71E2,FCAR,FIZ1,FKBP1AP1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100128398,LOC100131691,LOC100287534,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,MZF1,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF524,ZNF525,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF628,ZNF667,ZNF671,ZNF71,ZNF749,ZNF761,ZNF765,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF813,ZNF814,ZNF835,ZNF837,ZNF845,ZNF865,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 53800000 63811651 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 A1BG,A1BG-AS1,AURKC,BRSK1,C19orf18,CACNG6,CACNG7,CACNG8,CCDC106,CDC42EP5,CHMP2A,CNOT3,COX6B2,DNAAF3,DPRX,DUXA,EPN1,EPS8L1,FAM71E2,FCAR,FIZ1,FKBP1AP1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100128398,LOC100131691,LOC100287534,LOC147670,LOC284379,LOC646862,MBOAT7,MGC2752,MIMT1,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR4754,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,MZF1,NAT14,NCR1,NDUFA3,NLRP11,NLRP12,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRKCG,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SLC27A5,SSC5D,SUV420H2,SYT5,TARM1,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TPM3P9,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,VSTM1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF331,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF524,ZNF525,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF628,ZNF667,ZNF671,ZNF71,ZNF749,ZNF761,ZNF765,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF813,ZNF814,ZNF835,ZNF837,ZNF845,ZNF865,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 53801501 53833500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 53801812 53802782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53801812 53802782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 53801812 53802782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53810401 53814245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 53810403 53814245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53810403 53814245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53814359 53825785 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 53814359 53825785 Gain or loss Cancer - 20668451 NOT_FOUND chr19 53814359 53825785 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 53814359 53825785 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 53814359 53825785 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 53814359 53825785 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 53814360 53825473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53814360 53825473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 53814360 53825473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53814675 53814790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 53825659 53832435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53825659 53832435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 53825762 53832400 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 53833083 53841263 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZNF845 chr19 53833084 53841263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF845 chr19 53833084 53841263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF845 chr19 53833091 53841262 Gain and loss Pancreatic cancer SNP array 17952125 ZNF845 chr19 53833501 54209500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPRX,LOC284379,MIR1283-1,MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR518B,MIR518F,MIR519B,MIR519C,MIR519E,MIR520A,MIR520B,MIR520E,MIR520F,MIR523,MIR525,MIR526B,TPM3P9,ZNF331,ZNF525,ZNF761,ZNF765,ZNF813,ZNF845 chr19 53851843 53851948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF845 chr19 53851844 53851947 Gain and loss Pancreatic cancer SNP array 17952125 ZNF845 chr19 53851859 53851948 Gain and loss Pancreatic cancer SNP array 17952125 ZNF845 chr19 53856478 53868076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF845 chr19 53856478 53868076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF845 chr19 53856478 53868082 Gain and loss Pancreatic cancer SNP array 17952125 ZNF845 chr19 53875093 53875713 Gain and loss Pancreatic cancer SNP array 17952125 ZNF525 chr19 53881227 53897957 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF525 chr19 53891040 53901019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF765 chr19 53891040 53901019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF765 chr19 53891090 53900817 Gain and loss Pancreatic cancer SNP array 17952125 ZNF765 chr19 53908065 53914100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF765 chr19 53908065 53914100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF765 chr19 53908065 53914790 Gain and loss Pancreatic cancer SNP array 17952125 ZNF765 chr19 53908066 53914788 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZNF765 chr19 53915653 53935782 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TPM3P9,ZNF761 chr19 53915655 53935782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPM3P9,ZNF761 chr19 53915655 53935782 Gain and loss Pancreatic cancer SNP array 17952125 TPM3P9,ZNF761 chr19 53915655 53935782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM3P9,ZNF761 chr19 53935959 53941978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPM3P9,ZNF761 chr19 53935959 53941978 Gain and loss Pancreatic cancer SNP array 17952125 TPM3P9,ZNF761 chr19 53935959 53941978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM3P9,ZNF761 chr19 53943079 53950459 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TPM3P9,ZNF761 chr19 53943080 53947659 Gain and loss Pancreatic cancer SNP array 17952125 TPM3P9,ZNF761 chr19 53943080 53948612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPM3P9,ZNF761 chr19 53943080 53948612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPM3P9,ZNF761 chr19 53950627 53953394 Gain or loss Breast cancer - 20668451 ZNF761 chr19 53950627 53953394 Gain or loss Cancer - 20668451 ZNF761 chr19 53950627 53953394 Gain or loss Lung cancer - 20668451 ZNF761 chr19 53950627 53953394 Gain or loss Ovarian cancer - 20668451 ZNF761 chr19 53950627 53953394 Gain or loss Pancreas cancer - 20668451 ZNF761 chr19 53950627 53953394 Gain or loss Prostate cancer - 20668451 ZNF761 chr19 53950628 53953395 Gain and loss Pancreatic cancer SNP array 17952125 ZNF761 chr19 53951156 53953392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF761 chr19 53951156 53953392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF761 chr19 53954901 53959200 Deletion Glioma mate-paired sequence 20126413 ZNF761 chr19 53988221 53988327 Gain and loss Pancreatic cancer SNP array 17952125 ZNF813 chr19 53988221 53988327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF813 chr19 53990134 54006113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF813 chr19 53990134 54006113 Gain and loss Pancreatic cancer SNP array 17952125 ZNF813 chr19 53990134 54006113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF813 chr19 54008091 54031576 Gain and loss Pancreatic cancer SNP array 17952125 ZNF331 chr19 54008091 54031746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF331 chr19 54008091 54031746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF331 chr19 54032167 54063670 Gain and loss Pancreatic cancer SNP array 17952125 ZNF331 chr19 54032167 54063670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF331 chr1 95406310 95485046 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG14,LOC729970 chr1 95406310 97052280 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALG14,FLJ31662,LOC729970,RWDD3,TMEM56,TMEM56-RWDD3 chr19 5406442 5407865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5406442 5407865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5406442 5407866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54066794 54066929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF331 chr19 54067460 54071131 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF331 chr19 54067490 54071126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF331 chr19 54067490 54071126 Gain and loss Pancreatic cancer SNP array 17952125 ZNF331 chr19 54067490 54071126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF331 chr19 54076041 54093802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF331 chr19 54076041 54093802 Gain and loss Pancreatic cancer SNP array 17952125 ZNF331 chr19 54076041 54093802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF331 chr19 54080466 55184866 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CACNG6,CACNG7,CACNG8,CDC42EP5,CNOT3,DPRX,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LOC284379,MBOAT7,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR4752,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NDUFA3,NLRP12,OSCAR,PRKCG,PRPF31,RPS9,TARM1,TFPT,TMC4,TSEN34,TTYH1,VSTM1,ZNF331 chr19 540893 568157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC34,GZMM chr19 540893 568157 Gain and loss Pancreatic cancer SNP array 17952125 CDC34,GZMM chr19 540893 568157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC34,GZMM chr19 54095119 54118340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284379 chr19 54095119 54118340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284379 chr19 54095851 54118334 Gain and loss Pancreatic cancer SNP array 17952125 LOC284379 chr19 54100000 54600000 Amplification Lung cancer Array-based CGH 19153074 CACNG6,CACNG7,CACNG8,DPRX,LOC284379,MIR1283-1,MIR1283-2,MIR1323,MIR371A,MIR371B,MIR372,MIR373,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,MIR935,MYADM,NLRP12,OSCAR,PRKCG,TARM1,VSTM1 chr1 95411788 95424794 Gain and loss Pancreatic cancer SNP array 17952125 LOC729970 chr19 54128751 54140030 Gain and loss Pancreatic cancer SNP array 17952125 DPRX chr19 54128751 54140038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPRX chr19 54128751 54140038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPRX chr19 54149928 54156867 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 54149928 54156867 Gain or loss Cancer - 20668451 NOT_FOUND chr19 54149928 54156867 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 54149928 54156867 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 54149928 54156867 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 54149928 54156867 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 54149929 54156864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54149929 54156864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54149998 54156708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54160378 54161947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54160378 54161947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54160378 54161947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54163193 54188361 Gain or loss Breast cancer - 20668451 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54163193 54188361 Gain or loss Cancer - 20668451 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54163193 54188361 Gain or loss Lung cancer - 20668451 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54163193 54188361 Gain or loss Ovarian cancer - 20668451 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54163193 54188361 Gain or loss Pancreas cancer - 20668451 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54163193 54188361 Gain or loss Prostate cancer - 20668451 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54163195 54188361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54163195 54188361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54163195 54188379 Gain and loss Pancreatic cancer SNP array 17952125 MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR519E,MIR520E,MIR520F chr19 54188968 54210994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR1283-1,MIR518B,MIR518F,MIR519B,MIR519C,MIR520A,MIR520B,MIR520C,MIR523,MIR525,MIR526A1,MIR526B chr19 54188968 54210994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR1283-1,MIR518B,MIR518F,MIR519B,MIR519C,MIR520A,MIR520B,MIR520C,MIR523,MIR525,MIR526A1,MIR526B chr19 54188978 54210994 Gain and loss Pancreatic cancer SNP array 17952125 MIR1283-1,MIR518B,MIR518F,MIR519B,MIR519C,MIR520A,MIR520B,MIR520C,MIR523,MIR525,MIR526A1,MIR526B chr19 54206842 54206966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 54209501 54253500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518C,MIR518D,MIR518E,MIR519D,MIR520C,MIR520D,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR524,MIR526A1,MIR526A2 chr19 54211049 54212159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR518C chr19 54211049 54212159 Gain and loss Pancreatic cancer SNP array 17952125 MIR518C chr19 54211049 54212159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR518C chr19 54217938 54232003 Gain and loss Pancreatic cancer SNP array 17952125 MIR516B2,MIR517B,MIR520D,MIR520G,MIR521-2,MIR526A2 chr19 54217940 54219444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54220531 54221305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54222339 54222439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 54223552 54223584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 54224647 54225409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54226941 54228307 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr19 54226942 54228307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54226942 54228307 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54226942 54228307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54230638 54231885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54230638 54231885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54233548 54234321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR518A1 chr19 54238875 54240378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR516B1 chr19 54238875 54240378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR516B1 chr19 54238880 54240379 Gain and loss Pancreatic cancer SNP array 17952125 MIR516B1 chr19 54242708 54244175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54242709 54244212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54242709 54244212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54249344 54253929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR521-1 chr19 54249344 54253929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR521-1 chr19 54253501 54364000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR1283-2,MIR371A,MIR371B,MIR372,MIR373,MIR516A1,MIR516A2,MIR519A1,MIR519A2,MIR522,MIR527,NLRP12 chr19 54256214 54258936 Gain and loss Pancreatic cancer SNP array 17952125 MIR527 chr19 54256216 54258936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR527 chr19 54256216 54258936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR527 chr19 54260091 54260637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54262487 54268010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR516A2,MIR519A2 chr19 54262487 54268010 Gain and loss Pancreatic cancer SNP array 17952125 MIR516A2,MIR519A2 chr19 54262487 54268010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR516A2,MIR519A2 chr19 54276401 54276697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54276401 54276699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54280277 54303681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR371A,MIR371B,MIR372,MIR373,NLRP12 chr19 54280277 54303681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR371A,MIR371B,MIR372,MIR373,NLRP12 chr19 54280520 54303672 Gain and loss Pancreatic cancer SNP array 17952125 MIR371A,MIR371B,MIR372,MIR373,NLRP12 chr19 54309393 54313529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP12 chr19 54309393 54313529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP12 chr19 54309429 54313529 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NLRP12 chr19 54309430 54313528 Gain and loss Pancreatic cancer SNP array 17952125 NLRP12 chr19 54313702 54314091 Gain and loss Pancreatic cancer SNP array 17952125 NLRP12 chr19 54313702 54314091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP12 chr19 54313706 54315085 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NLRP12 chr19 54314475 54346090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP12 chr19 54314475 54346090 Gain and loss Pancreatic cancer SNP array 17952125 NLRP12 chr19 54314475 54346090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP12 chr19 54346270 54350476 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54346270 54350493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54346270 54350493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54350165 54350165 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr19 54351772 54351839 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 54352860 54406903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYADM,PRKCG chr19 54352860 54406903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYADM,PRKCG chr19 54352864 54406903 Gain and loss Pancreatic cancer SNP array 17952125 MYADM,PRKCG chr19 54364001 54528000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNG6,CACNG7,CACNG8,MIR935,MYADM,PRKCG chr19 54386319 54386358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCG chr19 54409275 54409597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCG chr19 5446197 5986621 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 C19orf70,CAPS,CATSPERD,DUS3L,FUT3,FUT5,FUT6,HSD11B1L,LOC100128568,LONP1,NDUFA11,NRTN,PLAC2,PRR22,RANBP3,RPL36,SAFB,SAFB2,VMAC,ZNRF4 chr19 54473731 54473764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNG8 chr19 54484703 54520286 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CACNG6,CACNG8,MIR935 chr19 54484703 54520286 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CACNG6,CACNG8,MIR935 chr19 54484709 54506416 Gain and loss Pancreatic cancer SNP array 17952125 CACNG6,CACNG8,MIR935 chr19 54484709 54520286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNG6,CACNG8,MIR935 chr19 54484709 54520286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG6,CACNG8,MIR935 chr19 5449001 5450500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 5450501 5573500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLAC2,ZNRF4 chr19 54523236 54535371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54526861 54535304 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54528001 55049000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC42EP5,CNOT3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA3,LILRA4,LILRA5,LILRA6,LILRB2,LILRB3,LILRB5,MBOAT7,MIR4752,NDUFA3,OSCAR,PRPF31,RPS9,TARM1,TFPT,TMC4,TSEN34,TTYH1,VSTM1 chr19 54530240 54535671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54530489 54535671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54530489 54535671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54535669 54557526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VSTM1 chr19 54535669 54557526 Gain and loss Pancreatic cancer SNP array 17952125 VSTM1 chr19 54535669 54557526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VSTM1 chr19 54552483 54552644 Gain and loss Pancreatic cancer SNP array 17952125 VSTM1 chr19 54558853 54570185 Gain or loss Breast cancer - 20668451 VSTM1 chr19 54558853 54570185 Gain or loss Cancer - 20668451 VSTM1 chr19 54558853 54570185 Gain or loss Lung cancer - 20668451 VSTM1 chr19 54558853 54570185 Gain or loss Ovarian cancer - 20668451 VSTM1 chr19 54558853 54570185 Gain or loss Pancreas cancer - 20668451 VSTM1 chr19 54558853 54570185 Gain or loss Prostate cancer - 20668451 VSTM1 chr19 54558854 54570183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VSTM1 chr19 54558854 54570183 Gain and loss Pancreatic cancer SNP array 17952125 VSTM1 chr19 54558854 54570183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VSTM1 chr19 54581288 54581611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TARM1 chr19 54583318 54612579 Gain and loss Pancreatic cancer SNP array 17952125 NDUFA3,OSCAR,TARM1,TFPT chr19 54583318 54612579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFA3,OSCAR,TARM1,TFPT chr19 54593738 63793738 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 A1BG,A1BG-AS1,AURKC,BRSK1,C19orf18,CCDC106,CDC42EP5,CHMP2A,CNOT3,COX6B2,DNAAF3,DUXA,EPN1,EPS8L1,FAM71E2,FCAR,FIZ1,FKBP1AP1,GALP,GP6,HSPBP1,IL11,ISOC2,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG1,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,LOC100128252,LOC100128398,LOC100131691,LOC100287534,LOC147670,LOC646862,MBOAT7,MGC2752,MIMT1,MIR4752,MIR4754,MZF1,NAT14,NCR1,NDUFA3,NLRP11,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,OSCAR,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PRPF31,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,RPS9,SBK2,SGK110,SHISA7,SLC27A5,SSC5D,SUV420H2,SYT5,TFPT,TMC4,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TRAPPC2P1,TRIM28,TSEN34,TTYH1,U2AF2,UBE2M,UBE2S,USP29,VN1R1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF524,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF628,ZNF667,ZNF671,ZNF71,ZNF749,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF814,ZNF835,ZNF837,ZNF865,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 54609744 54609859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NDUFA3 chr19 54610320 54619055 Amplification or deletion Cancer Array CGH 17440070 PRPF31,TFPT chr19 5461227 5461568 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 5461239 5464062 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 54617483 54618510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFPT chr19 54617483 54618510 Gain and loss Pancreatic cancer SNP array 17952125 TFPT chr19 54617483 54618510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFPT chr19 54624470 54636596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRPF31 chr19 54624470 54636596 Gain and loss Pancreatic cancer SNP array 17952125 PRPF31 chr19 54624470 54636596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRPF31 chr1 95463099 95463417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ALG14 chr19 54639243 54639320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 54641368 54646879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNOT3 chr19 54641368 54646879 Gain and loss Pancreatic cancer SNP array 17952125 CNOT3 chr19 54641368 54646879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNOT3 chr19 54646013 54646013 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 CNOT3 chr19 54646013 54646013 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 CNOT3 chr19 54647342 54660206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNOT3,LENG1 chr19 54648325 54665657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNOT3,LENG1,TMC4 chr19 54648325 54665657 Gain and loss Pancreatic cancer SNP array 17952125 CNOT3,LENG1,TMC4 chr19 54648325 54665657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNOT3,LENG1,TMC4 chr19 54669298 54681299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7,TMC4 chr19 54669298 54681299 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7,TMC4 chr19 54669298 54681299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7,TMC4 chr19 54681844 54687370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7 chr19 54681844 54687370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7 chr19 54682676 54687374 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54685034 54685117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7 chr19 54685035 54685116 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54685037 54685113 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54685684 54685768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7 chr19 54685686 54685767 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54685687 54685764 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54685973 54686043 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54685973 54686043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7 chr19 54685977 54686038 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54686244 54686329 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54686244 54686329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7 chr19 54686245 54686322 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54691446 54694756 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7,TSEN34 chr19 54691446 54694756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7,TSEN34 chr19 54692789 54692875 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT7 chr19 54692789 54692875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT7 chr19 54693994 54694083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 54695854 54695937 Gain and loss Pancreatic cancer SNP array 17952125 TSEN34 chr19 54695854 54695937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSEN34 chr19 54707432 54721400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRB3,RPS9 chr19 54707432 54721400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRB3,RPS9 chr19 54707698 54721400 Gain and loss Pancreatic cancer SNP array 17952125 LILRB3,RPS9 chr1 95472183 98455030 Loss Malignant melanoma BAC array CGH 17260012 ALG14,DPYD,DPYD-AS1,FLJ31662,MIR137HG,PTBP2,RWDD3,TMEM56,TMEM56-RWDD3 chr19 54722687 54738701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRB3 chr19 54722687 54738701 Gain and loss Pancreatic cancer SNP array 17952125 LILRB3 chr19 54722687 54738701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRB3 chr1 95472299 95485367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALG14 chr1 95472299 95485367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALG14 chr19 54743707 54743812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LILRA6 chr19 54750782 54775625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRB5 chr19 54750782 54775625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRB5 chr19 54750782 54775626 Gain and loss Pancreatic cancer SNP array 17952125 LILRB5 chr19 54761741 54761839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54761741 54761841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54778280 54785999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRB2,MIR4752 chr19 54778280 54785999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRB2,MIR4752 chr19 54778289 54786072 Gain and loss Pancreatic cancer SNP array 17952125 LILRB2,MIR4752 chr19 54790585 54820937 Gain and loss Pancreatic cancer SNP array 17952125 LILRA3,LILRA5 chr19 54790591 54821507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRA3,LILRA5 chr19 54790591 54821507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRA3,LILRA5 chr19 54830363 54835212 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr19 54830363 54835212 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 54830363 54835212 Gain or loss Cancer - 20668451 NOT_FOUND chr19 54830363 54835212 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 54830363 54835212 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 54830363 54835212 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 54830363 54835212 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 54830364 54835212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54830364 54835212 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54830364 54835212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54837194 54853710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRA4 chr19 54837194 54853710 Gain and loss Pancreatic cancer SNP array 17952125 LILRA4 chr19 54837194 54853710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRA4 chr19 54854642 54860926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54854642 54860926 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54854642 54860926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54860211 54868984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAIR1 chr19 54860211 54868984 Gain and loss Pancreatic cancer SNP array 17952125 LAIR1 chr19 54860211 54868984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAIR1 chr19 54872350 54883516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAIR1 chr19 54872350 54883516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAIR1 chr19 54872355 54883516 Gain and loss Pancreatic cancer SNP array 17952125 LAIR1 chr19 54886205 54908800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54886205 54908800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54886213 54908800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54924368 54924435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 54934827 54958355 Gain and loss Pancreatic cancer SNP array 17952125 TTYH1 chr19 54934830 54958355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTYH1 chr19 54934830 54958355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTYH1 chr19 54940021 54940121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTYH1 chr19 54950511 54950609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 54959593 54959699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 54959593 54959699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 54961992 55002181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP5,LENG8,LENG9 chr19 54961992 55002181 Gain and loss Pancreatic cancer SNP array 17952125 CDC42EP5,LENG8,LENG9 chr19 54961992 55002181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP5,LENG8,LENG9 chr19 54970826 54970926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LENG8 chr19 54974061 54974145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LENG9 chr19 54982646 54982696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42EP5 chr19 55001961 55008280 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 55001987 55008339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55001987 55008339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55010000 55290000 Loss Breast cancer aCGH 21509527 KIR2DL1,KIR2DL3,KIR3DL3,KIR3DX1,LAIR2,LILRA1,LILRA2,LILRB1,LILRB4,LILRP2 chr19 55013358 55033848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAIR2 chr19 55013358 55033848 Gain and loss Pancreatic cancer SNP array 17952125 LAIR2 chr19 55013358 55033848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAIR2 chr1 95502828 95532434 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALG14 chr19 55034574 55034674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 55038379 55048982 Copy number Normal - 20680643 KIR3DX1 chr19 55045950 55055802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIR3DX1 chr19 55045950 55055802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIR3DX1 chr19 55046260 55055809 Gain and loss Pancreatic cancer SNP array 17952125 KIR3DX1 chr19 55049001 55091000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIR3DX1,LILRA2 chr19 55052835 55053452 Gain and loss Pancreatic cancer SNP array 17952125 KIR3DX1 chr19 55054305 55054389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIR3DX1 chr19 55056274 55062630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55056274 55062630 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 55056274 55062630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55060813 55061333 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 55064107 55073528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55064107 55073528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55064113 55124598 Gain and loss Pancreatic cancer SNP array 17952125 LILRA1,LILRA2 chr19 55066103 55085537 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LILRA2 chr19 55070363 55070434 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 55070363 55070434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 55072641 55083812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55072641 55083812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 55072641 55083812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55084728 55124608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRA1,LILRA2 chr19 55084728 55124608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRA1,LILRA2 chr19 55089974 55156241 Gain and loss Pancreatic cancer SNP array 17952125 LILRA1,LILRA2,LILRB1 chr19 55091001 55798500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRSK1,DNAAF3,EPS8L1,FCAR,GP6,HSPBP1,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRA1,LILRA2,LILRB1,LILRB4,LILRP2,LOC100287534,NCR1,NLRP2,NLRP7,PPP1R12C,PPP6R1,PTPRH,RDH13,RNU6-35,RNU6-64,SYT5,TMEM86B,TNNI3,TNNT1 chr19 5509185 5519007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 55101893 55124598 Gain or loss Breast cancer - 20668451 LILRA1 chr19 55101893 55124598 Gain or loss Cancer - 20668451 LILRA1 chr19 55101893 55124598 Gain or loss Lung cancer - 20668451 LILRA1 chr19 55101893 55124598 Gain or loss Ovarian cancer - 20668451 LILRA1 chr19 55101893 55124598 Gain or loss Pancreas cancer - 20668451 LILRA1 chr19 55101893 55124598 Gain or loss Prostate cancer - 20668451 LILRA1 chr19 55101898 55124598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRA1 chr19 55101898 55124598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRA1 chr19 5510363 5519006 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr19 55124272 55129003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRB1 chr19 55124272 55129003 Gain and loss Pancreatic cancer SNP array 17952125 LILRB1 chr19 55124272 55129003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRB1 chr19 55144064 55156241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRB1 chr19 55144064 55156241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRB1 chr19 55144385 55144596 Gain and loss Pancreatic cancer SNP array 17952125 LILRB1 chr19 55144386 55144596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRB1 chr19 55164742 55170881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55164742 55170881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 55164742 55170881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55171538 55220617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LILRB4,LILRP2 chr19 55171538 55220617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LILRB4,LILRP2 chr19 55171540 55220448 Gain and loss Pancreatic cancer SNP array 17952125 LILRB4,LILRP2 chr19 55190998 55205139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55201411 55203440 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 55221024 55243841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIR3DL3,LILRP2 chr19 55221024 55243841 Gain and loss Pancreatic cancer SNP array 17952125 KIR3DL3,LILRP2 chr19 55221024 55243841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIR3DL3,LILRP2 chr19 55228822 55344796 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL3,LOC100287534 chr19 55228822 55344796 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL3,LOC100287534 chr19 55244889 55253160 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 KIR2DL3,KIR3DL3 chr19 55244889 55253160 Total allelic loss Normal High-resolution SNP genotyping 21211785 KIR2DL3,KIR3DL3 chr19 55245658 55261862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIR2DL3,KIR3DL3 chr19 55245658 55261862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIR2DL3,KIR3DL3 chr19 55250216 55252940 Loss Normal 244K array 17666407 KIR2DL3 chr19 55253785 55255431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIR2DL3 chr19 55260473 55291552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR2DL1,KIR2DL3 chr19 55261083 55294994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR2DL1,KIR2DL3 chr19 55264627 55313639 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR2DL1,LOC100287534 chr19 5527671 5527949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 5527671 5527949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55293679 55297441 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR2DL1 chr19 55294760 55297519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR2DL1 chr19 55309273 55313987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100287534 chr19 55315079 55315184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIR2DL4,LOC100287534 chr19 55328405 55331159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR3DL1 chr19 55330628 55349636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR2DS4,KIR3DL1 chr19 55330677 55338999 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR3DL1 chr19 55330973 55344061 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR3DL1 chr19 55331029 55348795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR2DS4,KIR3DL1 chr19 55331792 55350814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR2DS4,KIR3DL1 chr19 55333939 55342129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIR3DL1 chr19 55344029 55346308 Loss Normal 244K array 17666407 KIR2DS4 chr19 55347617 55358350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIR2DS4 chr19 55347617 55358350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIR2DS4 chr19 55347618 55358264 Gain and loss Pancreatic cancer SNP array 17952125 KIR2DS4 chr19 55362010 55395249 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FCAR,KIR3DL2 chr19 5538010 5573762 Gain and loss Pancreatic cancer SNP array 17952125 PLAC2 chr19 5538011 5573938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLAC2 chr19 5538011 5573938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLAC2 chr19 55386288 63738997 Loss or gain Non-syndromic sensorineural hearing loss array CGH 18496225 A1BG,A1BG-AS1,AURKC,BRSK1,C19orf18,CCDC106,CHMP2A,COX6B2,DNAAF3,DUXA,EPN1,EPS8L1,FAM71E2,FCAR,FIZ1,FKBP1AP1,GALP,GP6,HSPBP1,IL11,ISOC2,LOC100128252,LOC100128398,LOC100131691,LOC147670,LOC646862,MGC2752,MIMT1,MIR4754,MZF1,NAT14,NCR1,NLRP11,NLRP13,NLRP2,NLRP4,NLRP5,NLRP7,NLRP8,NLRP9,PEG3,PEG3-AS1,PPP1R12C,PPP6R1,PTPRH,RDH13,RFPL4A,RNU6-35,RNU6-64,RPL28,RPS5,SBK2,SGK110,SHISA7,SLC27A5,SSC5D,SUV420H2,SYT5,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,TRAPPC2P1,TRIM28,U2AF2,UBE2M,UBE2S,USP29,VN1R1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF524,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF628,ZNF667,ZNF671,ZNF71,ZNF749,ZNF772,ZNF773,ZNF776,ZNF784,ZNF787,ZNF8,ZNF805,ZNF814,ZNF835,ZNF837,ZNF865,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 55398697 55505610 Gain and loss Pancreatic cancer SNP array 17952125 FCAR,NCR1,NLRP2,NLRP7,RNU6-35,RNU6-64 chr19 55398697 55505611 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCAR,NCR1,NLRP2,NLRP7,RNU6-35,RNU6-64 chr19 55398697 55505611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCAR,NCR1,NLRP2,NLRP7,RNU6-35,RNU6-64 chr19 55445403 55498308 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NLRP2,NLRP7,RNU6-35,RNU6-64 chr19 55446562 55446620 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NLRP7 chr19 5546045 5546080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 55507006 55524446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP2 chr19 55507006 55524446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP2 chr19 55510530 55510797 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NLRP2 chr19 55510576 55524446 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NLRP2 chr19 55510577 55524446 Gain and loss Pancreatic cancer SNP array 17952125 NLRP2 chr19 55526309 55526366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GP6 chr19 55528871 55539830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GP6 chr19 55528871 55539830 Gain and loss Pancreatic cancer SNP array 17952125 GP6 chr19 55528871 55539830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GP6 chr19 55531721 55563576 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GP6,RDH13 chr19 5553211 5553311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 55553547 55560743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RDH13 chr19 55553547 55560743 Gain and loss Pancreatic cancer SNP array 17952125 RDH13 chr19 55553547 55560743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RDH13 chr19 5556273 5562630 Copy number Autism exome sequencing 22495311 PLAC2 chr19 55571497 55578078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RDH13 chr19 55571497 55578078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RDH13 chr19 55571538 55578048 Gain and loss Pancreatic cancer SNP array 17952125 RDH13 chr19 55579408 55613082 Gain and loss Pancreatic cancer SNP array 17952125 EPS8L1,PPP1R12C,RDH13 chr19 55579420 55613082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPS8L1,PPP1R12C,RDH13 chr19 55579420 55613082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPS8L1,PPP1R12C,RDH13 chr19 55600000 55700000 Gain Lung squamous cell carcinoma sub-megabase resolution tiling-set rearray platform 20842114 DNAAF3,PPP1R12C,PTPRH,SYT5,TNNI3,TNNT1 chr19 55601 56256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55614010 55626117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12C chr19 55614027 55624060 Gain or loss Breast cancer - 20668451 PPP1R12C chr19 55614027 55624060 Gain or loss Cancer - 20668451 PPP1R12C chr19 55614027 55624060 Gain or loss Lung cancer - 20668451 PPP1R12C chr19 55614027 55624060 Gain or loss Ovarian cancer - 20668451 PPP1R12C chr19 55614027 55624060 Gain or loss Pancreas cancer - 20668451 PPP1R12C chr19 55614027 55624060 Gain or loss Prostate cancer - 20668451 PPP1R12C chr19 55614028 55624058 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12C chr19 55623197 55705956 Loss Lung cancer Array CGH 21203850 DNAAF3,PPP1R12C,PTPRH,SYT5,TNNI3,TNNT1 chr19 55624876 55624935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R12C chr19 55627972 55662502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R12C,TNNT1 chr19 55628004 55669942 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R12C,TNNI3,TNNT1 chr19 556298 559431 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 5564173 5595273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLAC2,SAFB2 chr19 55661856 55671815 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DNAAF3,TNNI3 chr19 55661859 55671815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAAF3,TNNI3 chr19 55661859 55671815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAAF3,TNNI3 chr19 55661866 55671368 Gain and loss Pancreatic cancer SNP array 17952125 DNAAF3,TNNI3 chr19 55670405 55678419 Gain and loss Pancreatic cancer SNP array 17952125 DNAAF3 chr19 55670409 55670409 Copy number Prostate cancer Illumina GA II sequencer 21307934 DNAAF3 chr19 55671548 55678419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAAF3 chr19 55671548 55678419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAAF3 chr19 55684620 55684693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYT5 chr19 55698751 55698851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRH chr19 55701067 55706231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRH chr19 55701067 55706231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRH chr19 55701067 55706247 Gain and loss Pancreatic cancer SNP array 17952125 PTPRH chr19 55701070 55706289 Gain or loss Breast cancer - 20668451 PTPRH chr19 55701070 55706289 Gain or loss Cancer - 20668451 PTPRH chr19 55701070 55706289 Gain or loss Lung cancer - 20668451 PTPRH chr19 55701070 55706289 Gain or loss Ovarian cancer - 20668451 PTPRH chr19 55701070 55706289 Gain or loss Pancreas cancer - 20668451 PTPRH chr19 55701070 55706289 Gain or loss Prostate cancer - 20668451 PTPRH chr19 55706673 55709759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRH chr19 55706673 55709759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRH chr19 55711961 55763114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP6R1,PTPRH,TMEM86B chr19 55711961 55763114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP6R1,PTPRH,TMEM86B chr19 55712871 55714136 Gain and loss Pancreatic cancer SNP array 17952125 PTPRH chr19 5573501 5575000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 5574164 5619488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAFB2 chr19 5574164 5619488 Gain and loss Pancreatic cancer SNP array 17952125 SAFB2 chr19 5574164 5619488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAFB2 chr19 55748319 55793486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSPBP1,PPP6R1 chr19 5575001 5578500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 55769690 55774043 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HSPBP1,PPP6R1 chr19 55769702 55774323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HSPBP1,PPP6R1 chr19 55798501 55800750 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRSK1 chr19 55799264 55801158 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 BRSK1 chr19 55800751 55905000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRSK1,COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM150B,TMEM190,TMEM238 chr19 55802063 55816357 Loss or gain Normal 244K array 17666407 BRSK1 chr19 55816357 55819582 Loss Normal 244K array 17666407 BRSK1 chr19 55817047 55834904 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 BRSK1,TMEM150B chr19 55817048 55863466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRSK1,COX6B2,SUV420H2,TMEM150B chr19 55817048 55863466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRSK1,COX6B2,SUV420H2,TMEM150B chr19 55817048 55912007 Gain and loss Pancreatic cancer SNP array 17952125 BRSK1,COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM150B,TMEM190,TMEM238 chr19 55820000 56330000 Gain Breast cancer aCGH 21509527 BRSK1,CCDC106,COX6B2,EPN1,FAM71E2,FIZ1,IL11,ISOC2,NAT14,NLRP11,NLRP9,RFPL4A,RPL28,SBK2,SGK110,SHISA7,SSC5D,SUV420H2,TMEM150B,TMEM190,TMEM238,U2AF2,UBE2S,ZNF524,ZNF579,ZNF580,ZNF581,ZNF628,ZNF784,ZNF865 chr19 55820803 55820876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BRSK1 chr19 55824555 55825906 Gain Normal 244K array 17666407 TMEM150B chr19 55844514 55854251 Gain and loss Pancreatic cancer SNP array 17952125 SUV420H2 chr19 55856896 55914519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM190,TMEM238,UBE2S chr19 55856896 55914519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM190,TMEM238,UBE2S chr19 55857669 55857743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUV420H2 chr1 95588159 95588252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM56,TMEM56-RWDD3 chr19 55905001 55921000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UBE2S chr1 9559072 9559630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55918417 55920791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBE2S chr19 55918417 55920791 Gain and loss Pancreatic cancer SNP array 17952125 UBE2S chr19 55918417 55920791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2S chr19 55921001 55923500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 55922035 57033283 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC106,EPN1,FIZ1,GALP,ISOC2,LOC100128252,NAT14,NLRP11,NLRP13,NLRP4,NLRP5,NLRP8,NLRP9,RFPL4A,SBK2,SGK110,SHISA7,SSC5D,U2AF2,ZNF444,ZNF471,ZNF524,ZNF542,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF628,ZNF667,ZNF784,ZNF787,ZNF865,ZSCAN5A,ZSCAN5B chr19 55923501 55984000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ISOC2,SHISA7 chr19 55932737 55932827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 5593843 5593940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAFB2 chr19 55949062 55957851 Loss Normal Birdsuite, version 1.5.2 22087296 SHISA7 chr19 55953527 55955023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHISA7 chr19 55957851 55957853 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 55965533 55966801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ISOC2 chr19 55965533 55966801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISOC2 chr19 55965670 55966740 Gain and loss Pancreatic cancer SNP array 17952125 ISOC2 chr19 55981899 55981968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 55984001 55989500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF628 chr19 55985484 55990293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF628 chr19 55985484 55990293 Gain and loss Pancreatic cancer SNP array 17952125 ZNF628 chr19 55985484 55990293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF628 chr19 55989501 55995000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF628 chr19 55992774 55999786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAT14,ZNF628 chr19 55992774 55999786 Gain and loss Pancreatic cancer SNP array 17952125 NAT14,ZNF628 chr19 55992774 55999786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAT14,ZNF628 chr19 55994101 55994191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF628 chr19 55994511 55994601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF628 chr19 55995001 56928000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC106,EPN1,FIZ1,GALP,NAT14,NLRP11,NLRP13,NLRP4,NLRP5,NLRP8,NLRP9,RFPL4A,SBK2,SGK110,SSC5D,U2AF2,ZNF444,ZNF524,ZNF542,ZNF579,ZNF580,ZNF581,ZNF582,ZNF582-AS1,ZNF583,ZNF628,ZNF784,ZNF787,ZNF865,ZSCAN5A,ZSCAN5B chr19 55997397 55997487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAT14 chr19 56012951 56013943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSC5D chr19 56012951 56013943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSC5D chr19 56012963 56013945 Gain and loss Pancreatic cancer SNP array 17952125 SSC5D chr19 56014216 56018855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSC5D chr19 56014216 56018855 Gain and loss Pancreatic cancer SNP array 17952125 SSC5D chr19 56014216 56018855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSC5D chr19 5601501 5618000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SAFB2 chr19 56019522 56047462 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SBK2,SSC5D chr19 56020357 56026591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SSC5D chr19 56020357 56026591 Gain and loss Pancreatic cancer SNP array 17952125 SSC5D chr19 56020357 56026591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SSC5D chr19 56024067 56037633 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 SSC5D chr19 56025440 56070409 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SBK2,SGK110,SSC5D chr19 56049983 56055832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGK110 chr19 56049983 56055832 Gain and loss Pancreatic cancer SNP array 17952125 SGK110 chr19 56049983 56055832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGK110 chr19 56068501 56075634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56068501 56075634 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56068501 56075634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56077166 56090336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF579 chr19 56077166 56090336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF579 chr19 56082792 56082928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56098419 56099818 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 56098615 56100190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 56101420 56105806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FIZ1 chr19 56101420 56105806 Gain and loss Pancreatic cancer SNP array 17952125 FIZ1 chr19 56101420 56105806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FIZ1 chr19 56117780 56117855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 56122146 56122637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56122146 56122637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56122146 56122643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56138373 56148156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56138373 56148156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56138373 56148156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56149275 56149596 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 56153700 56164741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC106,ZNF580,ZNF581 chr19 56153700 56164741 Gain and loss Pancreatic cancer SNP array 17952125 CCDC106,ZNF580,ZNF581 chr19 56153700 56164741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC106,ZNF580,ZNF581 chr19 56166337 56183573 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 U2AF2 chr19 56171541 56178962 Gain and loss Pancreatic cancer SNP array 17952125 U2AF2 chr19 56171541 56179106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 U2AF2 chr19 56171541 56179106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 U2AF2 chr19 56173892 56173957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 U2AF2 chr19 5618001 5626000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SAFB,SAFB2 chr19 56191076 56196770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPN1 chr19 56191076 56196770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPN1 chr19 56191076 56204702 Gain and loss Pancreatic cancer SNP array 17952125 EPN1 chr19 56195618 56204649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPN1 chr19 56195618 56204649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPN1 chr19 56207811 56215243 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr19 56207813 56215243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56207813 56215243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56209338 56215094 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56217301 56223102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP9 chr19 56217301 56223102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP9 chr19 56217301 56223107 Gain and loss Pancreatic cancer SNP array 17952125 NLRP9 chr19 56224160 56229960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP9 chr19 56224160 56229960 Gain and loss Pancreatic cancer SNP array 17952125 NLRP9 chr19 56224160 56229960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP9 chr19 56251275 56260179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56251275 56260179 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56251275 56260179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56258749 56261215 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 5626001 5664500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SAFB chr19 56272386 56279314 Gain and loss Pancreatic cancer SNP array 17952125 RFPL4A chr19 56272564 56279314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RFPL4A chr19 56272564 56279314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RFPL4A chr19 56292675 56303459 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NLRP11 chr19 56293588 56299659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP11 chr19 56293588 56299659 Gain and loss Pancreatic cancer SNP array 17952125 NLRP11 chr19 56293588 56299659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP11 chr19 5629433 5631911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAFB chr19 5629433 5631911 Gain and loss Pancreatic cancer SNP array 17952125 SAFB chr19 5629433 5631911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAFB chr19 56300000 59128983 Gain Basal cell lymphoma Array CGH 19029149 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,GALP,LOC100128252,LOC100128398,LOC100131691,LOC147670,LOC646862,MGC2752,MIMT1,MIR4754,MZF1,NLRP11,NLRP13,NLRP4,NLRP5,NLRP8,PEG3,PEG3-AS1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF667,ZNF671,ZNF71,ZNF749,ZNF772,ZNF773,ZNF776,ZNF787,ZNF8,ZNF805,ZNF814,ZNF835,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 56300000 59128983 Gain Diffuse large b-cell lymphoma Array CGH 19029149 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,GALP,LOC100128252,LOC100128398,LOC100131691,LOC147670,LOC646862,MGC2752,MIMT1,MIR4754,MZF1,NLRP11,NLRP13,NLRP4,NLRP5,NLRP8,PEG3,PEG3-AS1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF667,ZNF671,ZNF71,ZNF749,ZNF772,ZNF773,ZNF776,ZNF787,ZNF8,ZNF805,ZNF814,ZNF835,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 56300001 59128983 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,GALP,LOC100128252,LOC100128398,LOC100131691,LOC147670,LOC646862,MGC2752,MIMT1,MIR4754,MZF1,NLRP11,NLRP13,NLRP4,NLRP5,NLRP8,PEG3,PEG3-AS1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZFP28,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF444,ZNF446,ZNF460,ZNF470,ZNF471,ZNF497,ZNF530,ZNF542,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF582,ZNF582-AS1,ZNF583,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF667,ZNF671,ZNF71,ZNF749,ZNF772,ZNF773,ZNF776,ZNF787,ZNF8,ZNF805,ZNF814,ZNF835,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4,ZSCAN5A,ZSCAN5B chr19 56319977 56325378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP11 chr19 56319977 56325378 Gain and loss Pancreatic cancer SNP array 17952125 NLRP11 chr19 56319977 56325378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP11 chr19 5632035 5639532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAFB chr19 5632035 5639532 Gain and loss Pancreatic cancer SNP array 17952125 SAFB chr19 5632035 5639532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAFB chr19 56337370 56348595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP11,NLRP4 chr19 56337370 56348595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP11,NLRP4 chr19 56337376 56348595 Gain and loss Pancreatic cancer SNP array 17952125 NLRP11,NLRP4 chr19 56362397 56368508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP4 chr19 56362397 56368508 Gain and loss Pancreatic cancer SNP array 17952125 NLRP4 chr19 56362397 56368508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP4 chr19 56375951 56376175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NLRP4 chr19 5641272 5642674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAFB chr19 5641272 5642674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAFB chr19 5641306 5642676 Gain and loss Pancreatic cancer SNP array 17952125 SAFB chr19 56420147 56435086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP13 chr19 56420147 56435086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP13 chr19 56420175 56438175 Gain and loss Pancreatic cancer SNP array 17952125 NLRP13 chr19 5642845 5671143 Gain and loss Pancreatic cancer SNP array 17952125 SAFB chr19 5642845 5671176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAFB chr19 5642845 5671176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAFB chr19 56452776 56464394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP8 chr19 56452776 56464394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP8 chr19 5645795 5645889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAFB chr19 56459139 56463663 Gain and loss Pancreatic cancer SNP array 17952125 NLRP8 chr19 56463551 56464057 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NLRP8 chr19 56468203 56468513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NLRP8 chr19 56506914 56525914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56506914 56525914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56506965 56523825 Gain and loss Pancreatic cancer SNP array 17952125 NLRP5 chr19 56516164 56572153 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NLRP5 chr19 56523480 56523530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLRP5 chr19 56526608 56537190 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NLRP5 chr19 56526884 56535219 Gain and loss Pancreatic cancer SNP array 17952125 NLRP5 chr19 56527636 56535219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56540220 56561484 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NLRP5 chr19 56540222 56561484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56540222 56561484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56540237 56561418 Gain and loss Pancreatic cancer SNP array 17952125 NLRP5 chr19 56548802 56548949 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NLRP5 chr19 56562164 56564069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56562164 56564069 Gain and loss Pancreatic cancer SNP array 17952125 NLRP5 chr19 56562164 56564069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56564127 56564227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLRP5 chr19 56566686 56567772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56566686 56567772 Gain and loss Pancreatic cancer SNP array 17952125 NLRP5 chr19 56566686 56567772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLRP5 chr19 56574976 56583009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56574976 56583009 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56574976 56583009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56605088 56612692 Gain and loss Pancreatic cancer SNP array 17952125 ZNF787 chr19 56605088 56613263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF787 chr19 56605088 56613263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF787 chr1 95661373 95661452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM56,TMEM56-RWDD3 chr19 5664197 5664291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAFB chr19 5664501 5732500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C19orf70,CATSPERD,HSD11B1L,LONP1,RPL36,SAFB chr19 56646064 56653509 Gain and loss Pancreatic cancer SNP array 17952125 ZNF444 chr19 56646064 56653520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF444 chr19 56646064 56653520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF444 chr19 56653187 56653287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF444 chr19 56673709 56680171 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56674097 56678423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56683708 56958512 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 GALP,ZNF542,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZSCAN5A,ZSCAN5B chr19 56683708 56958512 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GALP,ZNF542,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZSCAN5A,ZSCAN5B chr19 56686293 56696813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALP chr19 56686293 56696813 Gain and loss Pancreatic cancer SNP array 17952125 GALP chr19 56686293 56696813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALP chr19 56693910 56702651 Gain Normal 244K array 17666407 GALP,ZSCAN5B chr19 56703639 56704379 Gain and loss Pancreatic cancer SNP array 17952125 ZSCAN5B chr19 56712763 56726922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56712763 56726922 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56712763 56726922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5671687 5729742 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 C19orf70,CATSPERD,HSD11B1L,LONP1,RPL36 chr19 5671688 5729739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf70,CATSPERD,HSD11B1L,LONP1,RPL36 chr19 5671688 5729739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf70,CATSPERD,HSD11B1L,LONP1,RPL36 chr19 5671707 5729736 Gain and loss Pancreatic cancer SNP array 17952125 C19orf70,CATSPERD,HSD11B1L,LONP1,RPL36 chr19 56766342 56784803 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 56766343 56784805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56766343 56784805 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56766343 56784805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56769619 56769706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 56783548 56958512 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZNF542,ZNF582,ZNF582-AS1,ZNF583,ZNF667 chr19 56785975 56787573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56786848 56789442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56786848 56789442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56793609 56796696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56800917 56843861 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 56804935 56854345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 56807156 56825400 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56807156 56825530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56807156 56825530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56812449 56844510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 5681350 5681450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSD11B1L chr19 56814307 56814407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 56817068 56847282 Copy number Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 56817481 56827229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 56819083 56840009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56819748 56840009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56820403 56833648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 56820646 56850503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 56821678 56840009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56821678 56852117 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56822149 56840009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56822149 56850557 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56822149 56852117 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 568223 584568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BSG chr19 568223 584568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BSG chr19 568228 584568 Gain and loss Pancreatic cancer SNP array 17952125 BSG chr19 56823448 56834427 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 56823486 56855547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 56823545 56840009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56823559 56846717 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56823559 56850679 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 56823614 56846716 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr19 56823616 56840725 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr19 56823616 56842035 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 56823616 56842035 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 56824393 56840816 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 56825273 56842222 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 56825273 56842222 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 56825273 56842222 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 56825273 56842222 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 56825823 56840373 Gain Normal 244K array 17666407 NOT_FOUND chr19 56826583 56840401 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr19 56832429 56832529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 56834427 56840009 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 56834427 56840009 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 56837590 56878758 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 56838420 56841824 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56838420 56841884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56838420 56841884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5685162 5714533 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HSD11B1L,LONP1,RPL36 chr19 56864470 56864571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56864470 56864571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56865701 56871000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 56867727 56869570 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr19 56867742 56869325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 56887677 56887746 Amplification Acute myeloid leukemia BAC aCGH 20962326 ZNF542 chr19 56887677 56887746 Gain and loss Pancreatic cancer SNP array 17952125 ZNF542 chr19 56887677 56887746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF542 chr19 56887844 56887936 Gain and loss Pancreatic cancer SNP array 17952125 ZNF542 chr19 56887851 56887929 Amplification Acute myeloid leukemia BAC aCGH 20962326 ZNF542 chr19 56887851 56887929 Gain and loss Pancreatic cancer SNP array 17952125 ZNF542 chr19 56887851 56887929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF542 chr19 56888319 56888404 Amplification Acute myeloid leukemia BAC aCGH 20962326 ZNF542 chr19 56888319 56888404 Gain and loss Pancreatic cancer SNP array 17952125 ZNF542 chr19 56888319 56888404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF542 chr19 56888404 56900254 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZNF542,ZNF582 chr19 56888409 56900254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF542,ZNF582 chr19 56888592 56889316 Gain and loss Pancreatic cancer SNP array 17952125 ZNF542 chr19 56899128 56900254 Gain and loss Pancreatic cancer SNP array 17952125 ZNF582 chr19 56908177 56919033 Gain and loss Pancreatic cancer SNP array 17952125 ZNF582-AS1,ZNF583 chr19 56908177 56919049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF582-AS1,ZNF583 chr19 56908177 56919049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF582-AS1,ZNF583 chr19 56917794 56917887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF583 chr19 56940837 56946962 Copy number Lung cancer - 20668451 NOT_FOUND chr19 56940837 56946962 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 56940837 56946962 Gain or loss Cancer - 20668451 NOT_FOUND chr19 56940837 56946962 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 56940837 56946962 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 56940837 56946962 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 56940837 56946962 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 56940839 56946962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56940839 56946962 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 56940839 56946962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 56955995 56965572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF667 chr19 56955995 56965572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF667 chr19 56956264 56965591 Copy number Lung cancer - 20668451 ZNF667 chr19 56956264 56965591 Gain or loss Breast cancer - 20668451 ZNF667 chr19 56956264 56965591 Gain or loss Cancer - 20668451 ZNF667 chr19 56956264 56965591 Gain or loss Lung cancer - 20668451 ZNF667 chr19 56956264 56965591 Gain or loss Ovarian cancer - 20668451 ZNF667 chr19 56956264 56965591 Gain or loss Pancreas cancer - 20668451 ZNF667 chr19 56956264 56965591 Gain or loss Prostate cancer - 20668451 ZNF667 chr19 56956276 56965589 Gain and loss Pancreatic cancer SNP array 17952125 ZNF667 chr19 56961899 57306559 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100128252,LOC147670,ZFP28,ZIM2,ZNF470,ZNF471,ZNF667,ZNF71,ZNF835 chr19 56965912 56966021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF667 chr19 56966055 56966202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF667 chr19 56976483 57313456 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100128252,LOC147670,ZFP28,ZIM2,ZNF470,ZNF471,ZNF667,ZNF71,ZNF835 chr19 56990222 57021146 Copy number Lung cancer - 20668451 LOC100128252,ZNF471 chr19 56990222 57021146 Gain or loss Breast cancer - 20668451 LOC100128252,ZNF471 chr19 56990222 57021146 Gain or loss Cancer - 20668451 LOC100128252,ZNF471 chr19 56990222 57021146 Gain or loss Lung cancer - 20668451 LOC100128252,ZNF471 chr19 56990222 57021146 Gain or loss Ovarian cancer - 20668451 LOC100128252,ZNF471 chr19 56990222 57021146 Gain or loss Pancreas cancer - 20668451 LOC100128252,ZNF471 chr19 56990222 57021146 Gain or loss Prostate cancer - 20668451 LOC100128252,ZNF471 chr19 56990228 57021254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128252,ZNF471 chr19 56990228 57021254 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128252,ZNF471 chr19 56990228 57021254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128252,ZNF471 chr19 57004958 57005596 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128252 chr19 57023408 57023582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF471 chr19 57023567 57023745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF471 chr19 57031233 57031326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF471 chr19 57037904 57225638 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC147670,ZFP28,ZNF470,ZNF471,ZNF71,ZNF835 chr19 57049137 57049209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 57066361 57083016 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ZFP28,ZNF470 chr19 57066365 57083009 Gain and loss Pancreatic cancer SNP array 17952125 ZFP28,ZNF470 chr19 57066367 57083009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZFP28,ZNF470 chr19 57066367 57083009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFP28,ZNF470 chr19 57069781 57069881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 57081404 57100442 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF470 chr19 57084301 57100059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF470 chr19 57084301 57100059 Gain and loss Pancreatic cancer SNP array 17952125 ZNF470 chr19 57084301 57100059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF470 chr19 57092485 57107507 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF470,ZNF71 chr1 95710230 96428593 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ31662,RWDD3,TMEM56-RWDD3 chr19 57122541 57140817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF71 chr19 57122541 57140817 Gain and loss Pancreatic cancer SNP array 17952125 ZNF71 chr19 57122541 57140817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF71 chr1 9571564 9595728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9571564 9595728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57159404 57181891 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 LOC147670,ZNF835 chr19 57159406 57181880 Gain and loss Pancreatic cancer SNP array 17952125 LOC147670,ZNF835 chr19 57159406 57181891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC147670,ZNF835 chr19 57159406 57181891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC147670,ZNF835 chr19 57186400 57203270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57186400 57203275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57186400 57203275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5719662 6119317 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CAPS,CATSPERD,DUS3L,FUT3,FUT5,FUT6,LOC100128568,LONP1,NDUFA11,NRTN,PRR22,RANBP3,RFX2,VMAC chr1 9572001 9598500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 57207837 57223429 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57208202 57223429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57208202 57223429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57226444 57243885 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57228173 57243918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57228173 57243918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57259531 57290830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZIM2 chr19 57259531 57290830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZIM2 chr19 57260172 57261269 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57263324 57263413 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57263324 57263413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57263324 57263429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57272718 57317701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZIM2 chr19 57309466 57335003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PEG3,PEG3-AS1,ZIM2 chr19 57309466 57335003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEG3,PEG3-AS1,ZIM2 chr19 57310336 57352057 Gain and loss Pancreatic cancer SNP array 17952125 PEG3,PEG3-AS1,ZIM2 chr19 57313456 63802440 Duplication Normal MAD tool 21586113 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIMT1,MIR4754,MZF1,PEG3,PEG3-AS1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZIK1,ZIM2,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF446,ZNF460,ZNF497,ZNF530,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF671,ZNF749,ZNF772,ZNF773,ZNF776,ZNF8,ZNF805,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4 chr19 5732501 5877000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CATSPERD,DUS3L,FUT3,FUT5,FUT6,NRTN,PRR22 chr19 57329323 57329405 Gain and loss Pancreatic cancer SNP array 17952125 PEG3,ZIM2 chr19 57329323 57329405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEG3,ZIM2 chr19 5733989 5735251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPERD chr19 5733989 5735251 Gain and loss Pancreatic cancer SNP array 17952125 CATSPERD chr19 5733989 5735251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPERD chr19 57349937 57366708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIMT1,PEG3,ZIM2 chr19 5736155 5742194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPERD chr19 5736155 5742194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPERD chr19 5736155 5742217 Gain and loss Pancreatic cancer SNP array 17952125 CATSPERD chr19 57384367 57388027 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 57385045 57421483 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 57385045 57421483 Gain or loss Cancer - 20668451 NOT_FOUND chr19 57385045 57421483 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 57385045 57421483 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 57385045 57421483 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 57385045 57421483 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 57385046 57421482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57385046 57422499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57385046 57422499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 95743120 95743207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57454141 57454252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57454143 57454252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57464636 57487788 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57476474 57487788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57476474 57487788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57476862 57476958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57492237 57520975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57492237 57520975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57492255 57520991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 95749911 95750011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 57500000 63800000 Duplication abnormal development HR-CGH, Array-CGH 18461090 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZIK1,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF446,ZNF460,ZNF497,ZNF530,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF671,ZNF749,ZNF772,ZNF773,ZNF776,ZNF8,ZNF805,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4 chr19 57531373 57562178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57531373 57562178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57540493 57562187 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 57544238 57561832 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57555284 57569777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57561269 57593876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 57579198 57634421 Gain and loss Pancreatic cancer SNP array 17952125 USP29 chr19 57579303 57579923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 57580562 57582941 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 57580628 57583196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 57580834 57582921 Loss Normal 244K array 17666407 NOT_FOUND chr19 57590611 57613468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57592739 57592999 Gain Normal 244K array 17666407 NOT_FOUND chr19 57592933 57647004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP29,ZIM3 chr19 57592933 57647004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP29,ZIM3 chr19 57600000 59100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZIK1,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF446,ZNF460,ZNF497,ZNF530,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF671,ZNF749,ZNF772,ZNF773,ZNF776,ZNF8,ZNF805,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4 chr19 57600000 63811651 Gain Glioblastoma conventional CGH 21080181 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZIK1,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF446,ZNF460,ZNF497,ZNF530,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF671,ZNF749,ZNF772,ZNF773,ZNF776,ZNF8,ZNF805,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4 chr19 57600000 63811651 Gain Glioblastoma multiforme aCGH 21080181 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZIK1,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF446,ZNF460,ZNF497,ZNF530,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF671,ZNF749,ZNF772,ZNF773,ZNF776,ZNF8,ZNF805,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4 chr19 57600000 63811651 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZIK1,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF446,ZNF460,ZNF497,ZNF530,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF671,ZNF749,ZNF772,ZNF773,ZNF776,ZNF8,ZNF805,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4 chr19 57600000 63811651 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZIK1,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF446,ZNF460,ZNF497,ZNF530,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF671,ZNF749,ZNF772,ZNF773,ZNF776,ZNF8,ZNF805,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4 chr19 57600000 63811651 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 A1BG,A1BG-AS1,AURKC,C19orf18,CHMP2A,DUXA,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRAPPC2P1,TRIM28,UBE2M,USP29,VN1R1,ZBTB45,ZIK1,ZIM3,ZNF132,ZNF134,ZNF135,ZNF154,ZNF17,ZNF211,ZNF256,ZNF264,ZNF274,ZNF304,ZNF324,ZNF324B,ZNF329,ZNF416,ZNF417,ZNF418,ZNF419,ZNF446,ZNF460,ZNF497,ZNF530,ZNF543,ZNF544,ZNF547,ZNF548,ZNF549,ZNF550,ZNF551,ZNF552,ZNF584,ZNF586,ZNF587,ZNF587B,ZNF606,ZNF671,ZNF749,ZNF772,ZNF773,ZNF776,ZNF8,ZNF805,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22,ZSCAN4 chr1 95761409 95792413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 57624252 57647380 Gain and loss Pancreatic cancer SNP array 17952125 USP29,ZIM3 chr19 57640781 57640890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP29 chr19 57648641 57711943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUXA,ZIM3,ZNF264 chr19 57648641 57711943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUXA,ZIM3,ZNF264 chr19 57648678 57653219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZIM3 chr19 57706025 57708794 Gain and loss Pancreatic cancer SNP array 17952125 ZNF264 chr19 57722717 57759529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AURKC,ZNF264,ZNF805 chr19 5774818 5779334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CATSPERD chr19 5774818 5779334 Gain and loss Pancreatic cancer SNP array 17952125 CATSPERD chr19 5774818 5779334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CATSPERD chr19 57750522 57751825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 57765340 57779861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF805 chr19 57765340 57779861 Gain and loss Pancreatic cancer SNP array 17952125 ZNF805 chr19 57765340 57779861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF805 chr19 57774074 57775270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF805 chr19 57775924 57776058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 57787819 57789420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 57790939 57795214 Gain and loss Pancreatic cancer SNP array 17952125 ZNF460 chr19 57790939 57795216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF460 chr19 57790939 57795216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF460 chr19 57791570 57813257 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF460 chr19 57807432 57833456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF543 chr19 57807432 57833456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF543 chr19 57807443 57833450 Gain and loss Pancreatic cancer SNP array 17952125 ZNF543 chr19 57814002 57814740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5781636 5790742 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 DUS3L,PRR22 chr19 5781637 5790742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUS3L,PRR22 chr19 5781637 5790742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUS3L,PRR22 chr19 5781798 5790728 Gain and loss Pancreatic cancer SNP array 17952125 DUS3L,PRR22 chr19 57829755 57841301 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF543 chr19 57874792 57874886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAPPC2P1 chr19 57897880 57930109 Gain and loss Pancreatic cancer SNP array 17952125 ZNF17,ZNF548 chr19 57898675 57930109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF17,ZNF548 chr19 57899284 57924947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF17,ZNF548 chr19 57899284 57924947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF17,ZNF548 chr19 57900838 57900938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 57926388 57926488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF17 chr19 57927409 57927686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF17 chr19 5793898 5802485 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr19 5793900 5802485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5793900 5802485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5793902 5797934 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 5794823 5817669 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 57948484 57981828 Gain and loss Pancreatic cancer SNP array 17952125 VN1R1,ZNF749,ZNF772 chr19 57953400 57988283 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 VN1R1,ZNF749,ZNF772 chr19 57955115 57955215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF749 chr19 57959283 57981828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VN1R1,ZNF772 chr19 57992474 58001086 Gain and loss Pancreatic cancer SNP array 17952125 ZNF419 chr19 57992474 58016697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF419,ZNF773 chr19 57992474 58016697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF419,ZNF773 chr19 58002989 58003487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF419 chr19 58004897 58005773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF419 chr19 58004918 58005773 Gain and loss Pancreatic cancer SNP array 17952125 ZNF419 chr19 58008152 58019202 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF773 chr19 58008487 58011791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF773 chr19 58014801 58053170 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF549,ZNF773 chr19 58016841 58054820 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNF549,ZNF773 chr19 58016841 58054820 Gain Non-syndromic sensorineural hearing loss 610K,Agilent24M 19587683 ZNF549,ZNF773 chr19 58018890 58018990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF773 chr19 58019202 58019782 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZNF773 chr19 58019371 58061535 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF549,ZNF550,ZNF773 chr19 58019782 58045481 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZNF549 chr19 58019892 58064406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF549,ZNF550 chr19 58033598 58119222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZIK1,ZNF416,ZNF530,ZNF549,ZNF550 chr19 58033598 58119222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZIK1,ZNF416,ZNF530,ZNF549,ZNF550 chr19 58033964 58065844 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 ZNF549,ZNF550 chr19 58034024 58039352 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF549 chr19 58035951 58036608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58045481 58048997 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZNF549 chr19 58048997 58055950 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF549 chr19 58053120 58138099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZIK1,ZNF134,ZNF416,ZNF530,ZNF550 chr19 58061536 58115833 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ZIK1,ZNF416,ZNF530,ZNF550 chr19 58071237 58157833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZIK1,ZNF134,ZNF211,ZNF416,ZNF530 chr19 58071237 58157833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZIK1,ZNF134,ZNF211,ZNF416,ZNF530 chr19 58075661 58076854 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 5809230 5915258 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 CAPS,FUT3,FUT5,FUT6,NDUFA11,NRTN,VMAC chr19 58096927 58097016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZIK1 chr19 58102271 58344387 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FKBP1AP1,ZIK1,ZNF134,ZNF154,ZNF211,ZNF530,ZNF551,ZNF552,ZNF586,ZNF587B,ZNF671,ZNF776,ZSCAN4 chr19 58110262 58112938 Gain and loss Pancreatic cancer SNP array 17952125 ZNF530 chr19 58112001 58117900 Deletion Glioma mate-paired sequence 20126413 ZNF530 chr19 58114010 58116019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF530 chr19 58119965 58126372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF134 chr19 58122200 58137659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF134 chr19 58122200 58137659 Gain and loss Pancreatic cancer SNP array 17952125 ZNF134 chr19 58122200 58137659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF134 chr19 58144446 58157926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF211 chr19 58144446 58157926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF211 chr19 58163317 58188596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZSCAN4 chr19 58163317 58188596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSCAN4 chr19 58164865 58298499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF154,ZNF551,ZNF586,ZNF671,ZNF776,ZSCAN4 chr19 58164865 58298499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF154,ZNF551,ZNF586,ZNF671,ZNF776,ZSCAN4 chr19 58165057 58165446 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 5816836 5821551 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr19 58168949 58169500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 5817182 5854798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUT3,FUT6,NRTN chr19 5817612 5818736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58199012 58200216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF551 chr19 58199108 58200216 Gain and loss Pancreatic cancer SNP array 17952125 ZNF551 chr19 58204412 58205863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58205324 58246052 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF154,ZNF671 chr19 58208888 58244983 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNF154,ZNF671 chr19 58209916 58210589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58209916 58210589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58210326 58236777 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF154,ZNF671 chr19 58210559 58244245 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZNF154,ZNF671 chr19 58210563 58244245 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF154,ZNF671 chr19 58210665 58245897 Gain Normal 244K array 17666407 ZNF154,ZNF671 chr19 5821701 5821801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 58239047 58253671 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 58260992 58298488 Gain and loss Pancreatic cancer SNP array 17952125 ZNF586,ZNF776 chr19 58300000 59100000 Gain Acute lymphoblastic leukemia - 21339820 A1BG,A1BG-AS1,C19orf18,CHMP2A,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRIM28,UBE2M,ZBTB45,ZNF132,ZNF135,ZNF256,ZNF274,ZNF324,ZNF324B,ZNF329,ZNF417,ZNF418,ZNF446,ZNF497,ZNF544,ZNF552,ZNF584,ZNF587,ZNF587B,ZNF606,ZNF8,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22 chr19 58302945 58327957 Gain and loss Pancreatic cancer SNP array 17952125 ZNF552 chr19 58302945 58327960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF552 chr19 58302945 58327960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF552 chr19 58308277 58308591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 58309563 63342285 Deletion Acute myeloid leukemia - 21251322 A1BG,A1BG-AS1,C19orf18,CHMP2A,FKBP1AP1,LOC100128398,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRIM28,UBE2M,ZBTB45,ZNF132,ZNF135,ZNF256,ZNF274,ZNF324,ZNF324B,ZNF329,ZNF417,ZNF418,ZNF446,ZNF497,ZNF544,ZNF552,ZNF584,ZNF587,ZNF587B,ZNF606,ZNF8,ZNF814,ZNF837,ZSCAN1,ZSCAN18,ZSCAN22 chr1 9583255 9609194 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A33 chr19 58334460 58354096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FKBP1AP1,ZNF587B chr19 58334460 58354096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FKBP1AP1,ZNF587B chr19 58334983 58354092 Gain and loss Pancreatic cancer SNP array 17952125 FKBP1AP1,ZNF587B chr19 58357491 58388415 Gain and loss Pancreatic cancer SNP array 17952125 ZNF587,ZNF587B,ZNF814 chr19 58358364 58388431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF587,ZNF814 chr19 58358364 58388431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF587,ZNF814 chr1 95837291 95837391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 58380982 58383763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF814 chr19 58407050 58407829 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58408040 58411160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58408040 58411160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58419036 58419943 Gain and loss Pancreatic cancer SNP array 17952125 ZNF417 chr19 58419036 58419949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF417 chr19 5842287 5854797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUT3 chr19 58423389 58449938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF417,ZNF418 chr19 58423389 58449938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF417,ZNF418 chr19 58430449 58449923 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZNF418 chr19 58430450 58446671 Gain and loss Pancreatic cancer SNP array 17952125 ZNF418 chr19 58430797 58443055 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF418 chr1 95843213 95843308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 58436372 58446548 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF418 chr19 58452608 58454667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF256 chr19 58452608 58454667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF256 chr19 58453441 58454628 Gain and loss Pancreatic cancer SNP array 17952125 ZNF256 chr19 5845686 5855025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FUT3 chr19 5845686 5855025 Gain and loss Pancreatic cancer SNP array 17952125 FUT3 chr19 5845686 5855025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUT3 chr19 58461825 58462730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58461825 58462730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58461825 58462730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58476620 58480012 Gain and loss Pancreatic cancer SNP array 17952125 C19orf18 chr19 58476620 58480012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf18 chr19 58484729 58485439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf18 chr19 58484729 58485439 Gain and loss Pancreatic cancer SNP array 17952125 C19orf18 chr19 58484729 58485439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf18 chr19 58494113 58497146 Gain and loss Pancreatic cancer SNP array 17952125 ZNF606 chr19 58494113 58497194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF606 chr19 58510202 58511090 Gain and loss Pancreatic cancer SNP array 17952125 ZNF606 chr19 58512602 58512916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF606 chr19 58513976 58514032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF606 chr19 58524512 58579199 Gain and loss Pancreatic cancer SNP array 17952125 ZNF135,ZSCAN1 chr19 58528813 58549934 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ZSCAN1 chr19 58532187 58541438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5855885 5861864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5855885 5861864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 5855885 5861864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58564449 58564946 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZSCAN1 chr19 58565733 58576124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF135,ZSCAN1 chr19 58570456 58598272 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF135,ZSCAN18 chr19 58576491 58577589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF135 chr19 58590214 58607074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZSCAN18 chr19 58590214 58607074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSCAN18 chr19 58593081 58597255 Gain and loss Pancreatic cancer SNP array 17952125 ZSCAN18 chr19 58598272 58602330 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZSCAN18 chr19 58602330 58622129 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ZSCAN18 chr19 58617465 58709070 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF274,ZNF329,ZSCAN18 chr19 58622129 58644080 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF329,ZSCAN18 chr19 5862386 5866887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FUT5 chr19 5862386 5866887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUT5 chr19 58627067 58637941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF329,ZSCAN18 chr19 58627067 58637941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF329,ZSCAN18 chr19 58628532 58665345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF329,ZSCAN18 chr1 9586374 10990278 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-289K arrays 21546498 APITD1,APITD1-CORT,C1orf200,CASZ1,CLSTN1,CORT,CTNNBIP1,DFFA,KIF1B,LZIC,NMNAT1,PEX14,PGD,PIK3CD,RBP7,SLC25A33,TMEM201,UBE4B chr19 58642274 58651814 Gain and loss Pancreatic cancer SNP array 17952125 ZNF329 chr19 58644080 58645684 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF329 chr19 58644449 58645397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF329 chr19 58649710 58653326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF329 chr19 58649710 58653326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF329 chr19 5865219 5866886 Gain and loss Pancreatic cancer SNP array 17952125 FUT5 chr19 58654643 58799498 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF274,ZNF329,ZNF544,ZNF8 chr19 58662812 58698762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF274 chr19 58662812 58698762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF274 chr19 5867154 5929151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPS,FUT5,NDUFA11,RANBP3,VMAC chr19 5867154 5929151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPS,FUT5,NDUFA11,RANBP3,VMAC chr19 5867158 5929151 Gain and loss Pancreatic cancer SNP array 17952125 CAPS,FUT5,NDUFA11,RANBP3,VMAC chr19 58681695 58698762 Gain and loss Pancreatic cancer SNP array 17952125 ZNF274 chr19 58693721 58799498 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF274,ZNF544,ZNF8 chr19 58715491 59259065 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A1BG,A1BG-AS1,CHMP2A,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRIM28,UBE2M,ZBTB45,ZNF132,ZNF274,ZNF324,ZNF324B,ZNF446,ZNF497,ZNF544,ZNF584,ZNF8,ZNF837,ZSCAN22 chr19 58715501 58717000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF274 chr19 58715988 58775335 Deletion Intellectual disability 100k SNP Array 21811512 ZNF274,ZNF544 chr19 58715988 58775335 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ZNF274,ZNF544 chr19 58715988 58775335 Gain or loss Breast cancer - 20668451 ZNF274,ZNF544 chr19 58715988 58775335 Gain or loss Cancer - 20668451 ZNF274,ZNF544 chr19 58715988 58775335 Gain or loss Lung cancer - 20668451 ZNF274,ZNF544 chr19 58715988 58775335 Gain or loss Ovarian cancer - 20668451 ZNF274,ZNF544 chr19 58715988 58775335 Gain or loss Pancreas cancer - 20668451 ZNF274,ZNF544 chr19 58715988 58775335 Gain or loss Prostate cancer - 20668451 ZNF274,ZNF544 chr19 58715989 58775335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF274,ZNF544 chr19 58715989 58775335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF274,ZNF544 chr19 58716090 58775335 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF274,ZNF544 chr19 58716102 58773144 Gain and loss Pancreatic cancer SNP array 17952125 ZNF274,ZNF544 chr19 58733223 58773452 Amplification or deletion Cancer Array CGH 17440070 ZNF544 chr19 58746599 59029391 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 A1BG,A1BG-AS1,LOC646862,MIR4754,RPS5,SLC27A5,ZBTB45,ZNF132,ZNF324,ZNF324B,ZNF446,ZNF497,ZNF544,ZNF584,ZNF8,ZNF837,ZSCAN22 chr19 58752580 58799498 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF544,ZNF8 chr19 58758447 58935290 Duplication Normal Affymetrix 6.0 microarrays 20967226 A1BG,A1BG-AS1,LOC646862,MIR4754,RPS5,ZNF497,ZNF544,ZNF584,ZNF8,ZNF837,ZSCAN22 chr19 58759162 58759509 Gain and loss Pancreatic cancer SNP array 17952125 ZNF544 chr19 58759162 58759509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF544 chr19 5877001 5974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPS,NDUFA11,RANBP3,VMAC chr19 58771605 58824673 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF544,ZNF8 chr19 58788001 58790000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 58790001 59059000 Copy number Normal ReadDepth: A Parallel R Package 21305028 A1BG,A1BG-AS1,LOC646862,MIR4754,RPS5,SLC27A5,TRIM28,ZBTB45,ZNF132,ZNF324,ZNF324B,ZNF446,ZNF497,ZNF584,ZNF8,ZNF837,ZSCAN22 chr19 58796366 58798565 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF8 chr19 58796366 58798565 Gain and loss Pancreatic cancer SNP array 17952125 ZNF8 chr19 58796366 58798565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF8 chr19 58824779 58824991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58824779 58824991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58827122 58832075 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 58827122 58832075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58827122 58832075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58839954 58840023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZSCAN22 chr19 58848751 58848856 Gain and loss Pancreatic cancer SNP array 17952125 ZSCAN22 chr19 58848751 58848857 Gain and loss Pancreatic cancer SNP array 17952125 ZSCAN22 chr19 58848751 58848857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSCAN22 chr19 58850034 58850211 Gain and loss Pancreatic cancer SNP array 17952125 ZSCAN22 chr19 58850034 58850211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSCAN22 chr19 58861739 58861836 Gain and loss Pancreatic cancer SNP array 17952125 A1BG chr19 58861739 58861836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A1BG chr19 58861745 58861828 Amplification Acute myeloid leukemia BAC aCGH 20962326 A1BG chr19 58864223 58864320 Amplification Acute myeloid leukemia BAC aCGH 20962326 A1BG,A1BG-AS1 chr19 58864223 58864320 Gain and loss Pancreatic cancer SNP array 17952125 A1BG,A1BG-AS1 chr19 58864223 58864320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A1BG,A1BG-AS1 chr19 58867034 58867106 Amplification Acute myeloid leukemia BAC aCGH 20962326 ZNF497 chr19 58867034 58867106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF497 chr19 58869263 58869386 Gain and loss Pancreatic cancer SNP array 17952125 ZNF497 chr19 58869263 58869386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF497 chr19 58870777 58870863 Gain and loss Pancreatic cancer SNP array 17952125 ZNF497 chr19 58870777 58870863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF497 chr19 58872065 58873287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF497 chr19 58874069 58874151 Gain and loss Pancreatic cancer SNP array 17952125 ZNF497 chr19 58874069 58874151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF497 chr19 58875006 58875089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58875006 58875089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58877225 58877311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58877225 58877311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58880075 58880157 Gain and loss Pancreatic cancer SNP array 17952125 ZNF837 chr19 58880075 58880157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF837 chr19 58881535 58881621 Gain and loss Pancreatic cancer SNP array 17952125 ZNF837 chr19 58881535 58881621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF837 chr19 58883547 58883633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF837 chr19 5888366 5888466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 58885947 58886031 Amplification Acute myeloid leukemia BAC aCGH 20962326 ZNF837 chr19 58885947 58886031 Gain and loss Pancreatic cancer SNP array 17952125 ZNF837 chr19 58885947 58886031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF837 chr19 58889459 58889541 Gain and loss Pancreatic cancer SNP array 17952125 ZNF837 chr19 58889459 58889541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF837 chr19 58890279 58890359 Gain and loss Pancreatic cancer SNP array 17952125 ZNF837 chr19 58890279 58890359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF837 chr19 58892599 58892683 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58892599 58892683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58893451 58893537 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58893451 58893537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58895081 58895167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58895081 58895167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58896280 58896366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58896293 58896353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58897803 58897885 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 58897803 58897885 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58897803 58897885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58901318 58901402 Gain and loss Pancreatic cancer SNP array 17952125 RPS5 chr19 58901318 58901402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS5 chr19 58902519 58902605 Gain and loss Pancreatic cancer SNP array 17952125 RPS5 chr19 58902519 58902605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS5 chr19 58903801 58903901 Gain and loss Pancreatic cancer SNP array 17952125 RPS5 chr19 58903801 58903901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS5 chr1 95890568 95890653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 58906068 58906154 Gain and loss Pancreatic cancer SNP array 17952125 RPS5 chr19 58906068 58906154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS5 chr19 58907334 58907420 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 58907334 58907420 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58907334 58907420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58908413 58908500 Gain and loss Pancreatic cancer SNP array 17952125 LOC646862 chr19 58908413 58908500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC646862 chr19 58909259 58918008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 58911660 58911746 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58911660 58911746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58912158 58912248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 58914131 58914231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58914131 58914231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58915162 58915248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58915162 58915248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58916128 58916222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58916142 58916208 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 58916142 58916208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58917232 58917321 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58917232 58917321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 95892026 95892121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 58920508 58920592 Amplification Acute myeloid leukemia BAC aCGH 20962326 ZNF584 chr19 58920508 58920592 Gain and loss Pancreatic cancer SNP array 17952125 ZNF584 chr19 58920508 58920592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF584 chr19 58921988 58922052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF584 chr19 58924904 58924991 Gain and loss Pancreatic cancer SNP array 17952125 ZNF584 chr19 58924904 58924991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF584 chr19 58926072 58926156 Amplification Acute myeloid leukemia BAC aCGH 20962326 ZNF584 chr19 58926072 58926156 Gain and loss Pancreatic cancer SNP array 17952125 ZNF584 chr19 58926072 58926156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF584 chr19 58928146 58928214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF584 chr19 58929943 58930029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58929943 58930029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58931911 58932000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58931911 58932000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58934399 58934485 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr19 58934399 58934485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58934399 58934485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58936379 58936473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58936379 58936473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58937578 58937665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58937578 58937665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58937797 58937996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 58943702 58943788 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58943702 58943788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58946277 58946363 Gain and loss Pancreatic cancer SNP array 17952125 ZNF132 chr19 58946277 58946363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF132 chr19 58947463 58947547 Gain and loss Pancreatic cancer SNP array 17952125 ZNF132 chr19 58947463 58947547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF132 chr19 58949084 58949168 Gain and loss Pancreatic cancer SNP array 17952125 ZNF132 chr19 58949084 58949168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF132 chr19 58951807 58951896 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58951807 58951896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58953298 58953384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58955153 58955254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58955153 58955254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58956199 58956288 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58956199 58956288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58957271 58957715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58957410 58957496 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 58957410 58957496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58963037 58963619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF324B chr19 58967572 58968346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF324B chr19 58970665 58970948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 58980931 58981031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF324 chr19 58982741 58982807 Amplification Acute myeloid leukemia BAC aCGH 20962326 ZNF324 chr19 58982741 58982807 Gain and loss Pancreatic cancer SNP array 17952125 ZNF324 chr19 58982741 58982807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF324 chr19 58982956 58983022 Gain and loss Pancreatic cancer SNP array 17952125 ZNF324 chr19 58982956 58983022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF324 chr19 58983771 58983839 Gain and loss Pancreatic cancer SNP array 17952125 ZNF324 chr19 58983771 58983839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF324 chr19 58988669 59019460 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC27A5,ZNF446 chr19 58988669 59019460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC27A5,ZNF446 chr19 58988669 59019460 Gain and loss Pancreatic cancer SNP array 17952125 SLC27A5,ZNF446 chr19 58988669 59019460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC27A5,ZNF446 chr19 59000000 63800000 Duplication abnormal development HR-CGH, Array-CGH 18461090 CHMP2A,LOC100131691,MGC2752,MZF1,SLC27A5,TRIM28,UBE2M,ZBTB45 chr19 59007594 59007738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 95902572 95934783 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59059001 59114500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHMP2A,LOC100131691,MGC2752,MZF1,TRIM28,UBE2M chr19 59061422 59071501 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CHMP2A,LOC100131691,TRIM28,UBE2M chr19 59061423 59071494 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHMP2A,LOC100131691,TRIM28,UBE2M chr19 59061423 59071494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHMP2A,LOC100131691,TRIM28,UBE2M chr19 59061423 59071494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHMP2A,LOC100131691,TRIM28,UBE2M chr19 59062949 59071488 Gain and loss Pancreatic cancer SNP array 17952125 CHMP2A,LOC100131691,UBE2M chr19 59063716 59063816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHMP2A chr19 59064592 59071501 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CHMP2A,LOC100131691,UBE2M chr19 59066340 59471027 Amplification Cancer Affymetrix 250K Sty array 20164920 CHMP2A,LOC100131691,MGC2752,MZF1,UBE2M chr19 59077278 59102713 Copy number Lung cancer - 20668451 LOC100131691,MGC2752,MZF1 chr19 59077278 59102713 Gain or loss Breast cancer - 20668451 LOC100131691,MGC2752,MZF1 chr19 59077278 59102713 Gain or loss Cancer - 20668451 LOC100131691,MGC2752,MZF1 chr19 59077278 59102713 Gain or loss Lung cancer - 20668451 LOC100131691,MGC2752,MZF1 chr19 59077278 59102713 Gain or loss Ovarian cancer - 20668451 LOC100131691,MGC2752,MZF1 chr19 59077278 59102713 Gain or loss Pancreas cancer - 20668451 LOC100131691,MGC2752,MZF1 chr19 59077278 59102713 Gain or loss Prostate cancer - 20668451 LOC100131691,MGC2752,MZF1 chr19 59077279 59102713 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100131691,MGC2752,MZF1 chr19 59077279 59102713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100131691,MGC2752,MZF1 chr19 59077279 59102713 Gain and loss Pancreatic cancer SNP array 17952125 LOC100131691,MGC2752,MZF1 chr19 59077279 59102713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100131691,MGC2752,MZF1 chr19 590920 594605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HCN2 chr19 590920 594605 Gain and loss Pancreatic cancer SNP array 17952125 HCN2 chr19 590920 594605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCN2 chr19 590925 594604 Gain or loss Breast cancer - 20668451 HCN2 chr19 590925 594604 Gain or loss Cancer - 20668451 HCN2 chr19 590925 594604 Gain or loss Lung cancer - 20668451 HCN2 chr19 590925 594604 Gain or loss Ovarian cancer - 20668451 HCN2 chr19 590925 594604 Gain or loss Pancreas cancer - 20668451 HCN2 chr19 590925 594604 Gain or loss Prostate cancer - 20668451 HCN2 chr19 59096830 59141655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59096832 59141650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59100000 61400000 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 NOT_FOUND chr19 59104401 59139007 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59104401 59139007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59104401 59139007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59107883 59138080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59114501 59120500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59118586 59187067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59120501 59297000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59141562 59142228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 59158106 59177951 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59158106 59177951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59158106 59177951 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59158106 59177951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59177373 59177463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59187354 59207730 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59187354 59207730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59187354 59207730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59187354 59207730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5918740 5918805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RANBP3 chr1 95919529 95920940 Inversion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr19 59235718 59236422 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 59235899 59259019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59235899 59259019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59235899 59259019 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59235899 59259019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59245803 59293019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59247941 59252843 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr1 95924844 97244343 LOH Normal High-resolution SNP genotyping 21211785 FLJ31662,PTBP2 chr19 59253486 59409048 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr19 59268894 59269269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59282233 59303652 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59282233 59303652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59282233 59303652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59289745 59297812 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59289745 59297812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59289745 59297812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59289747 59297806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59297001 59355000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59297972 59302092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59302132 59310867 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59302132 59310867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59302132 59310867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59302141 59310848 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 59302141 59310848 Gain or loss Cancer - 20668451 NOT_FOUND chr19 59302141 59310848 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 59302141 59310848 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 59302141 59310848 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 59302141 59310848 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 59302142 59310848 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59310648 59326954 Genomic rearrangement Autosomal dominant retinitis pigmentosa MLPA 17003455 NOT_FOUND chr19 59310648 59326954 Microdeletion Klinefelter syndrome FSH 16372123 NOT_FOUND chr19 59310648 59326954 Microdeletion Retinitis pigmentosa Semiquantitative RT-PCR 19618372 NOT_FOUND chr19 59310649 59326952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59310649 59326952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59310649 59326952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59310649 59326955 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59313802 59316099 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59318140 59338155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59332695 59333370 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 59333261 59351239 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59333261 59351239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59333261 59351239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59333261 59351239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59351193 59355258 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59351193 59355258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59351193 59355258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59351199 59355258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59355001 59356500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59355659 59368664 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59355659 59368664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59355659 59368664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59355714 59368756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59356501 59384500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59359391 59464094 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 59359391 59464094 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 59359391 60158136 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 59366476 59366567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59366476 59366567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59368921 59385478 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59368921 59385478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59368921 59385478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59368921 59385478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59370129 59370239 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 59378308 59437631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59384501 59387500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59386006 59389333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59386009 59389337 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59386009 59389337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59386009 59389337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59387501 59415000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr1 95939355 95939975 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 95939450 96749826 LOH Normal High-resolution SNP genotyping 21211785 FLJ31662 chr19 59396538 59403327 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59396538 59403327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59396538 59403327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59396551 59403325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 5939969 5940037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RANBP3 chr19 59402485 59445315 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 59404772 59405098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59408310 59460933 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59410346 59438084 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59410346 59438084 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59410686 59466337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59411385 59423104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59411958 59418771 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 59411959 59419190 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59411959 59419190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59411959 59419190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59412549 59438461 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr19 59412549 59438461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59412549 59438942 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59412609 59438942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59412609 59438942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59412951 59434115 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59412951 59434115 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59413068 59413068 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr19 59413987 59435599 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59414087 59433119 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 59415001 59419500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59415731 59440844 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 59417076 59437785 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr19 59417182 59421702 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59417279 59434115 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59417279 59434115 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59417279 59437557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59417279 59437557 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59417279 59440223 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59417279 59440223 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59417344 59437095 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 59419486 59434115 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59434115 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59434789 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59434789 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59435599 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59437557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59437557 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59437557 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59438327 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419486 59438327 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59419501 59434500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59421508 59434115 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59434115 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59436184 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59436184 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59437557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59437557 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59437878 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59437878 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59440223 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421508 59440223 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59421840 59435034 Gain Normal 244K array 17666407 NOT_FOUND chr19 59422012 59433131 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 59422012 59433131 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 59422014 59433119 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 59422014 59445315 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 59422063 59445289 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 59423491 59428132 Duplication Attention deficit hyperactivity disorder - 22138692 NOT_FOUND chr19 59423491 59445355 Deletion Nasopharyngeal cancer PennCNV 20548289 NOT_FOUND chr19 59424654 59434115 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59424654 59434115 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59424694 59435445 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 59424723 59425900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59434501 59453000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59435067 59456844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59438202 59443684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 5944175 6061554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128568,RANBP3,RFX2 chr19 5944175 6061554 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128568,RANBP3,RFX2 chr19 5944175 6061554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128568,RANBP3,RFX2 chr19 59441765 59442993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 5944512 6061554 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 LOC100128568,RANBP3,RFX2 chr19 59446085 59452979 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59446085 59452979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59446085 59452979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59446143 59452937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59453001 59472500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59459617 59459719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59459617 59459723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59463670 59464708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59463671 59464711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59469487 59476851 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59469487 59476851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59469487 59476851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59469488 59476762 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59472501 59476500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59473655 59477769 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 59476501 59623000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59477769 59498495 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 59483883 59502003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59487830 59501472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59489714 59490031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59491525 59497078 Loss Normal 244K array 17666407 NOT_FOUND chr19 59491587 59498902 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 59491666 59496050 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr19 59491666 59501764 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59491666 59501764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59491666 59501764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59491671 59496077 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr19 59491671 59496077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59491895 59509050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59492209 59503174 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 59492666 59499423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 59492670 59499645 Deletion Non-syndromic sensorineural hearing loss Targeted BAC,Agilent24M 19587683 NOT_FOUND chr19 59502583 59503303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 59504859 59509121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59510165 59516221 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59510165 59516221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59510165 59516221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59510165 59516221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59523288 59524296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59523288 59524296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59531356 59534518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59536505 59542233 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59536505 59542233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59536505 59542233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59536505 59542233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 595371 598309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HCN2 chr19 595371 598309 Gain and loss Pancreatic cancer SNP array 17952125 HCN2 chr19 595371 598309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCN2 chr19 59557047 59573977 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59557047 59573977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59557047 59573977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59557945 59568287 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59582905 59583376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59606665 59616651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59610607 59619628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59618417 59639892 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59618417 59639892 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59618417 59639892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59618498 59639710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59623001 59625500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59625501 59657000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59628953 59642119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 59649820 59650037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59652207 59665008 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 59652208 59665006 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59652208 59665012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59652208 59665012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59652212 59665004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59657001 59668000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59664788 59666706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59664788 59666706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59664788 59666706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59665082 59666521 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59668001 59776500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59668022 59676234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59668022 59676234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59668022 59676234 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59668022 59676234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59693524 59693837 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 59705825 59713707 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59705825 59713707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59705825 59713707 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59705825 59713707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59724718 59725026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59735789 59748865 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59735789 59748865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59735789 59748865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59738595 59741058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 5974501 6162000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSBG2,LOC100128568,RANBP3,RFX2 chr19 59746405 59746749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59755065 59755351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59776501 59780000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59776630 59790839 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59776630 59790839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59776630 59790839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59777071 59790839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59780001 59834000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59793304 59840791 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59796909 59804487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59796909 59804487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59796925 59804352 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59796925 59805499 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59799647 60083800 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 59799647 60158136 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 59799647 60158136 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 59811149 59811655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59820424 59840791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59820424 59840791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59833770 59840791 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59834001 59839000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59838985 59842155 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59839001 59840000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59840231 59869813 Loss Normal aCGH 21627829 NOT_FOUND chr19 59843208 59868103 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 59844904 59870590 Gain Autism qPCR 20531469 NOT_FOUND chr1 9598501 9608500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A33 chr19 59851205 59852114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 598525 614227 Gain or loss Breast cancer - 20668451 HCN2 chr19 598525 614227 Gain or loss Cancer - 20668451 HCN2 chr19 598525 614227 Gain or loss Lung cancer - 20668451 HCN2 chr19 598525 614227 Gain or loss Ovarian cancer - 20668451 HCN2 chr19 598525 614227 Gain or loss Pancreas cancer - 20668451 HCN2 chr19 598525 614227 Gain or loss Prostate cancer - 20668451 HCN2 chr19 598530 614233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HCN2 chr19 598530 614233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCN2 chr19 598536 614227 Gain and loss Pancreatic cancer SNP array 17952125 HCN2 chr19 59855347 59855492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59865391 59873622 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59865391 59873622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59865391 59873622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59866264 59873619 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59866501 59871500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59874494 59875854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59879758 59885221 Loss Normal 244K array 17666407 NOT_FOUND chr19 59899501 59902000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59900195 59904495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59902001 59911500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59907542 59907825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59909222 60158136 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 59909222 60158136 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 59911501 59914000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59911791 59916501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59912198 59916546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59912198 59916546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59914001 60279000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 59924612 60194422 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 59927796 59939815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59927796 59939815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59927796 60051835 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59927796 60051836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59931522 59993643 Gain Normal aCGH 21627829 NOT_FOUND chr1 9599368 9599423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 59937631 59949397 Gain Normal aCGH 21627829 NOT_FOUND chr19 59937631 60070813 Gain Normal aCGH 21627829 NOT_FOUND chr19 59939691 60034648 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59939799 60043746 Loss Normal 244K array 17666407 NOT_FOUND chr19 59939901 60034648 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59940398 59949330 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr19 59941786 59956316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59941786 59956316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59944622 59961255 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 59946373 60034648 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59970009 59986450 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 59971780 60070512 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 59973077 60001550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59973077 60001550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 59973083 59987586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59974155 59979714 Gain Normal aCGH 21627829 NOT_FOUND chr19 59980702 60052205 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 59989608 59993581 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 59989695 59991881 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 59990381 60025683 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr19 59990443 60008769 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr19 59991881 60018425 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 59993438 60025972 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 59993438 60025972 Loss Normal aCGH 21627829 NOT_FOUND chr19 59994795 60031533 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr19 60006878 60017784 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60006878 60017784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60006892 60017783 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60018425 60027318 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 60019768 60034045 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60019768 60034045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60019768 60034045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60019768 60034045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60021064 60068860 Gain or loss Normal aCGH 21627829 NOT_FOUND chr19 60021338 60055022 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 60025725 60068860 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr19 60025972 60031956 Loss Normal aCGH 21627829 NOT_FOUND chr19 60027318 60031545 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 60031545 60040503 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 60032498 61147051 Deletion Intellectual disability Array CGH 22102821 NOT_FOUND chr19 60035986 60051835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60035986 60051835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60036227 60037647 Loss Normal aCGH 21627829 NOT_FOUND chr19 60040503 60065630 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 60043739 60071782 Loss Normal 244K array 17666407 NOT_FOUND chr19 60046094 60071017 Gain or loss Normal aCGH 21627829 NOT_FOUND chr19 60046204 60049273 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 60046589 60064493 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr19 60050285 60053003 Gain Normal aCGH 21627829 NOT_FOUND chr19 60053710 60070474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60053710 60070474 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60053710 60070474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60053724 60070474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60072206 60072312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60072206 60072312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60072208 60072311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60077361 60093651 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60077361 60093651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60077361 60093651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60077361 60095055 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60109338 60116251 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60109338 60116251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60109338 60116251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60109351 60116153 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60126689 60150679 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60126689 60150679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60126689 60150679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60126689 60150679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96012808 96012902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 9601562 9622499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A33 chr19 60168046 60169697 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 60168465 60204315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60168512 60204320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60169579 60204313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60169579 60204313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60169582 60204317 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 60179983 60180046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 60181865 60182040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60216885 60241444 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60216885 60241444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60216885 60241444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60216885 60241444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6023834 6024542 Gain and loss Pancreatic cancer SNP array 17952125 RFX2 chr19 6023834 6024542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RFX2 chr19 60245950 60831491 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr19 60247504 60267013 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60247523 60272709 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60247523 60272709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60247523 60272709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60269458 60314404 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 60275200 60291102 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60275200 60291102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60275200 60291102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60275378 60291102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60279001 60315000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60283571 60291103 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 60285887 60898766 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1139K arrays 21546498 NOT_FOUND chr19 60294095 60320739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60294095 60320739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60294095 60320739 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60294095 60320739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60296522 60297501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 60314541 60333767 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 60315001 60317500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60317501 60542500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60336008 60352385 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60336008 60352385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60336008 60352385 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60336008 60352385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60354950 60360858 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60354950 60360912 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60354950 60360912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60361843 60369831 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60361843 60369831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60361843 60369831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60361848 60369830 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60370351 60370452 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60370351 60370452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60376276 60383458 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60376280 60383532 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 60376281 60383532 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60376281 60383532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60376281 60383532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60382219 60515713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60384427 60412686 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 60384428 60412654 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60384428 60412654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60384428 60412654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60384930 60412686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60429926 60432444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60429928 60432444 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60429928 60432444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60429928 60432444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60432960 60450189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60432960 60461739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60432960 60462175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60432960 60462175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60465411 60483540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60465445 60483366 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60465520 60483291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60465520 60483291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9604718 9619664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A33 chr19 60487139 60515713 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60487139 60515713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60487139 60515713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60492816 60687662 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60516039 60537228 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60516039 60537228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60516039 60537228 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60516039 60537228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60542501 60594000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60543066 60551300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60543066 60551300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60543076 60551300 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60543076 60551300 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60552486 60557876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60552888 60557994 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60552888 60557994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60552888 60557994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60558480 60563006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60558480 60563006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60558480 60563015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60560815 60566421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60560815 60566421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60560815 60566421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60565087 60565158 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 60567569 60573626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60567569 60573626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60567569 60573626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60567569 60573626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60580016 60581383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60580016 60581424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60580016 60581424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60589112 60595261 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60589112 60595261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60589112 60595261 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60589112 60595261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60594001 60751000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60604464 60611137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60604464 60611137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60604470 60610957 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60604502 60611239 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60633977 60634423 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60633977 60634423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60635366 60636067 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60635366 60636067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60636335 60645448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60636335 60645583 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60636335 60645583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60656168 60664824 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60656168 60664824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60656168 60664824 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60656168 60664824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60670258 60701897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 60679511 60687666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60679511 60687666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60684436 60686504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60686662 60687666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60688385 60690737 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60688406 60690747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60688406 60690747 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60688406 60690747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60691676 60696035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60691676 60722174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60691676 60722174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60691676 60722177 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60691681 60722277 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 60711889 60712183 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 60711922 60712141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 60730108 60730464 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 60732912 60739473 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60732912 60739473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60732972 60739350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60733681 60733959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 60744180 60748052 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60751001 60838000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60768844 60769687 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 60780705 60784023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60780705 60784023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60780705 60802705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60780711 60783999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60791991 60806316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60794558 60802705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60794558 60802705 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60794558 60802705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9608016 9619382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A33 chr19 60803542 60806316 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60803542 60806316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60803542 60806316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9608089 9628016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A33 chr19 6081848 6096422 Gain and loss Pancreatic cancer SNP array 17952125 RFX2 chr19 60823919 60827753 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60823919 60827753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60823919 60827753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60823919 60827753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60829367 60862026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 60838001 60899000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60844116 60846647 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60844121 60846647 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60844204 60846647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60844204 60846647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60846725 60848770 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60846798 60848800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60846798 60848800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60846798 60848800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9608501 9611500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A33 chr19 60850766 60856339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60850766 60856339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60850766 60856339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60851213 60856333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60857227 60877894 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr19 60857228 60877893 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60857228 60877893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60857228 60877893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60857324 60877893 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6086669 6144104 Gain and loss Pancreatic cancer SNP array 17952125 ACSBG2,RFX2 chr19 6086710 6144112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSBG2,RFX2 chr19 6086710 6144112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSBG2,RFX2 chr19 60878404 60898944 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60878404 60898944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60878404 60898944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60878404 60898944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60887950 60888094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60896809 60930970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 60899001 60900500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60899900 60900406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60903293 60903757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 96090501 96092000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 60910755 60911060 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60910755 60911060 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60911610 60941580 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60911610 60941580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60911610 60941580 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60911610 60941580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60940463 60940704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60940463 60940704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60940463 60940778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60948980 60967590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 60951418 60967638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 60959856 60959857 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 60959857 60978105 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 60959949 60969946 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 60962318 60966351 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr19 60962706 60978986 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 60964979 60966344 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60964979 60966353 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60964979 60966353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60965862 60981611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 9609664 9625856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A33 chr19 60971571 60976219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 60973555 61003018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 60974983 60976339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60974983 60976357 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60974983 60976357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60978105 60980753 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 60980753 60992149 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 60985513 60999535 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 6098576 6098576 Copy number Prostate cancer Illumina GA II sequencer 21307934 RFX2 chr19 60988582 61035172 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 60988582 61035172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60988582 61035172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 60988582 61035172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 60988907 60999535 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 60989065 60999535 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 60989065 60999659 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 6103296 6103562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RFX2 chr19 6103297 6103562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RFX2 chr19 61040082 61085030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61055199 61085030 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61055199 61085030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61055199 61085030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61099123 61135489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61099123 61135514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61099123 61135514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61099123 61135514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9611159 9621263 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A33 chr19 6114200 6114490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 9611501 9614000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A33 chr19 61151010 61191807 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61151010 61191807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61151010 61191807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61151010 61191807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61181585 61243898 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 61202903 61264988 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61202904 61264988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61202904 61264988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61202904 61264988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61210079 61211267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 9612112 9620492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A33 chr19 61224115 61239819 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 96124684 96124770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96127772 96258135 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr19 61283001 61385500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 61283096 61283785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 61290544 61324461 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61290544 61324461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61290544 61324461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61291201 61324458 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61296060 61296126 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 61300454 62610084 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61308597 61308689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61308597 61308691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61308598 61308689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61344368 61364073 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61344368 61364073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61344368 61364073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61344368 61364073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61353266 61355062 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61353266 61355062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61379201 61388952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61379201 61388956 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61379201 61388956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61379201 61388956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61392870 61396233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61392870 61396233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61393008 61396233 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61393372 61396119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61400000 63811651 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 NOT_FOUND chr19 61400000 63811651 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 NOT_FOUND chr1 9614001 9698000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A33,TMEM201 chr19 61405176 61413959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 61406170 61415304 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 61409095 61412381 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61409095 61412381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61409095 61412381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61424490 61431471 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 61424493 61431471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61424493 61571564 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61424493 61571564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61424493 61571564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61450079 61450666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61450079 61450666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61519705 61519817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61519706 61519817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61519707 61519817 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61520321 61520850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61520321 61520850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61520464 61521066 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61523822 61525287 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61541173 61541274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61551396 61556644 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 61558197 61566221 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 61558270 61561734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 61571476 61583006 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 61571500 61581515 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61571500 61581515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61571535 61582736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61586460 61596701 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61586460 61596705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61586460 61596705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61586460 61596705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96159132 96159232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 61607529 61628212 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 61607530 61628212 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61607530 61628212 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61607530 61628212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6161391 6230959 Gain or loss Breast cancer - 20668451 ACSBG2,MLLT1 chr19 6161391 6230959 Gain or loss Cancer - 20668451 ACSBG2,MLLT1 chr19 6161391 6230959 Gain or loss Lung cancer - 20668451 ACSBG2,MLLT1 chr19 6161391 6230959 Gain or loss Ovarian cancer - 20668451 ACSBG2,MLLT1 chr19 6161391 6230959 Gain or loss Pancreas cancer - 20668451 ACSBG2,MLLT1 chr19 6161391 6230959 Gain or loss Prostate cancer - 20668451 ACSBG2,MLLT1 chr19 6161393 6230959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSBG2,MLLT1 chr19 6161393 6230959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSBG2,MLLT1 chr19 6162001 6188500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSBG2 chr19 6162643 6163239 Gain and loss Pancreatic cancer SNP array 17952125 ACSBG2 chr19 6163965 6230959 Amplification or deletion Cancer Array CGH 17440070 ACSBG2,MLLT1 chr19 6163966 6230959 Gain and loss Pancreatic cancer SNP array 17952125 ACSBG2,MLLT1 chr19 61643017 61680555 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 61643020 61680555 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61643020 61680555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61643020 61680555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61643020 61680555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61679 62596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WASH5P chr19 61681364 61698613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61681364 61698613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61697366 61698300 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61711023 61732081 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 61711024 61732079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61711024 61732079 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61711024 61732082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61711024 61732082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61736091 62953519 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr19 61742128 61759982 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 61742129 61759981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61742129 61759981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61742129 61759981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61742129 61759981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61770701 61786074 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 61770707 61786073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61770707 61786073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61773455 61781763 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61773455 61781931 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61798475 61827356 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 61798504 61827352 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61798504 61827352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61798504 61827352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61803357 61803674 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 61824468 61825937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6183834 6201641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACSBG2 chr19 61843571 61844139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 61866765 61868642 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61866765 61868642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61866765 61868642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61866765 61876058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61870501 61875500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 61872678 61873317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 6188501 6503500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACER1,ACSBG2,ALKBH7,CLPP,CRB3,DENND1C,GTF2F1,KHSRP,MIR3940,MLLT1,PSPN,SLC25A23,SLC25A41,TUBB4A chr19 6189414 24194887 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,AKAP8,AKAP8L,ALKBH7,ANGPTL4,ANGPTL6,ANKLE1,ANO8,AP1M1,AP1M2,ARHGEF18,ARMC6,ARRDC2,ASF1B,ASNA1,ATG4D,ATP13A1,B3GNT3,BABAM1,BEST2,BRD4,BST2,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf60,C19orf66,C19orf80,C3,C3P1,CACNA1A,CALR,CALR3,CAMSAP3,CARM1,CASP14,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CD70,CD97,CDC37,CDKN2D,CERS1,CERS4,CHERP,CIB3,CILP2,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,COL5A3,COMP,COPE,CPAMD8,CRB3,CRLF1,CRTC1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM125A,FAM129C,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FKBP8,FLJ22184,FLJ25328,FLJ25758,GADD45GIP1,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GLT25D1,GMIP,GPR108,GTF2F1,GTPBP3,HAPLN4,HAUS8,HNRNPM,HOMER3,HOOK2,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,JAK3,JUNB,JUND,KANK2,KANK3,KCNN1,KEAP1,KHSRP,KIAA1683,KLF1,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LOC100128573,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC400680,LOC440518,LOC641367,LOC729966,LPAR2,LPHN1,LPPR2,LRRC25,LRRC8E,LSM4,LYL1,MAN2B1,MAP1S,MAP2K7,MARCH2,MAST1,MAST3,MAU2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1181,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR3940,MIR4322,MIR4748,MIR4999,MIR638,MIR639,MLLT1,MPV17L2,MRI1,MRPL34,MRPL4,MUC16,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NDUFA13,NDUFA7,NDUFB7,NFIX,NOTCH3,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,OLFM2,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM3,PBX4,PCP2,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIK3R2,PIN1,PKN1,PLVAP,PNPLA6,PODNL1,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKACA,PRKCSH,PSPN,PTGER1,QTRT1,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RASAL3,RAVER1,RDH8,RETN,RFX1,RFXANK,RGL3,RLN3,RNASEH2A,RPL18A,RPS28,RPSAP58,RTBDN,S1PR2,S1PR5,SAMD1,SH2D3A,SIN3B,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD41,SPC24,SSBP4,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TECR,TGFBR3L,TIMM44,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TNFSF14,TNFSF9,TNPO2,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UCA1,UNC13A,UPF1,USE1,USHBP1,VAV1,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF257,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZSWIM4 chr19 61896070 61903323 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 96195468 97448977 LOH Normal High-resolution SNP genotyping 21211785 PTBP2 chr19 61975812 61976014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 61975861 61975989 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 61977742 62043887 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 61977742 62043887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 61977742 62043887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 61977742 62043887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62013256 62043906 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 62041001 62043500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 62047967 62048189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 62063514 62063955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62125407 62125470 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62125407 62125470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62125471 62125529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62125471 62125529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62125530 62125600 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62125530 62125600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62142215 62158577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 62164801 62169000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr19 62165323 62171294 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 62171450 62172535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 96219143 97379210 LOH Normal High-resolution SNP genotyping 21211785 PTBP2 chr19 62216349 62216570 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr19 62283753 62335106 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62283753 62335106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62283753 62335106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96232250 97379210 LOH Normal High-resolution SNP genotyping 21211785 PTBP2 chr19 62322903 62328822 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 62323320 62335105 Copy number Lung cancer - 20668451 NOT_FOUND chr19 62323320 62335105 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr19 62323320 62335105 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 62323320 62335105 Gain or loss Cancer - 20668451 NOT_FOUND chr19 62323320 62335105 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 62323320 62335105 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 62323320 62335105 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 62323320 62335105 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 62331823 62335106 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62337271 62337435 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62337276 62348382 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62337276 62348382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62337276 62348382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62337276 62348382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62354906 62370668 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62354906 62370668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62354906 62370668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62358555 63105801 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 96236606 96242934 Gain Normal 244K array 17666407 NOT_FOUND chr19 62380066 62381102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6239396 6239490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLLT1 chr19 62394681 62426024 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62394681 62426024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62394681 62426024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62394731 62422337 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62433982 62438727 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62434188 62438728 Copy number infertile Sequencing analysis 19147683 NOT_FOUND chr19 62434188 62438728 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 62434188 62438728 Gain or loss Cancer - 20668451 NOT_FOUND chr19 62434188 62438728 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 62434188 62438728 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 62434188 62438728 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 62434188 62438728 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 62434240 62438727 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62434240 62438727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62434240 62438727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62456615 62465471 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62456615 62465471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62456615 62465471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62483665 62497248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62483665 62497248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62483745 62496635 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62483745 62496635 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62523688 62533956 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 62523689 62533956 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62523689 62533956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62523689 62533956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62523689 62533956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6252390 6285220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MLLT1 chr19 62524033 62624661 Loss Autism Exome sequencing and CGH 22495309 NOT_FOUND chr19 62527017 62528338 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 62530958 62531291 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 62554487 62563078 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62554487 62563078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62554487 62563078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62554487 62563078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62566691 62568533 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62566691 62582735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62566703 62582735 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62566703 62582735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62566703 62582735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6256705 6301357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MLLT1 chr19 6257627 6284640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLLT1 chr19 6257725 6284562 Gain and loss Pancreatic cancer SNP array 17952125 MLLT1 chr19 62581948 62604597 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62581948 62604597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62581948 62604597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62593030 62604597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62614341 62625119 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62614341 62625119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62614341 62625119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62614344 62625112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62638505 62649003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62638505 62649003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62645922 63263640 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 62646590 62648665 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62646590 62648665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62658605 62659666 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62658605 62659666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62658605 62659666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62658605 62659666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62672767 62680750 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62672767 62680750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62672767 62680750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62676454 62678969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62678800 62697860 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62678800 62697860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62678800 62697860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62680208 62700709 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 62680865 62710992 Gain Autism Exome sequencing and CGH 22495309 NOT_FOUND chr19 62690921 62697860 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6269201 6307508 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACER1,MLLT1 chr19 62703121 62711320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62703121 62716248 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62703121 62716248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62703121 62716248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62716187 62716253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6271876 6271925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLLT1 chr19 62721215 63289428 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 62726406 62726632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 62730505 62743936 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62730505 62743936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62730505 62743936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62730601 62744055 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 627389 634392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLRMT chr19 627389 634392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLRMT chr19 627402 634385 Amplification or deletion Cancer Array CGH 17440070 POLRMT chr19 627403 634385 Gain and loss Pancreatic cancer SNP array 17952125 POLRMT chr19 62745020 62763019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62745020 62763019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62745020 62763019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62745020 62763043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62774747 62782055 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62774747 62782055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62774747 62782055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62774747 62782107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62787320 62794446 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62787322 62795570 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62787322 62795570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62787322 62795570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62787439 62795570 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 62787439 62795570 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 62803065 62811446 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62803065 62811446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62803065 62811446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62803065 62815899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62807571 63811651 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr19 62817440 62826184 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62817440 62826184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62822649 62824583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62824647 62845947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62824647 62845947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62824647 62845947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62836396 62845947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 96286284 96941821 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 62872115 62882317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62872115 62882317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62872115 62882317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62879326 62882085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62885179 62961325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62885189 62892979 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62885189 62892979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62885189 62892979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62890341 62891216 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62890341 62891216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6289370 6355507 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACER1 chr19 62895680 62895940 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62895680 62895940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62895680 62895940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62900547 62912348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62900547 62912348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62900547 62912370 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62900547 62912370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62903621 62912391 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 62922930 62930807 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 62922932 62930795 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62922932 62930795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62922932 62930795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62922936 62930795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62950020 63068299 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 62950020 63068299 Homozygous deletion Lower motor neuron disease multiplex ligation-dependent probe amplification (MLPA) 20947812 NOT_FOUND chr19 62950021 62961337 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62950021 62961337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62950021 62961337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62972835 62983794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 62972837 63003774 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62972837 63003774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62972837 63003774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 62988825 63138552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 62993451 63003774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63010262 63018093 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63010262 63018093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63010262 63018093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63010264 63018093 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63014224 63450984 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr19 63042237 63045300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63042317 63045300 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr1 96304675 96305394 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr19 63050356 63731511 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr19 63053081 63068299 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63053081 63068299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63053081 63068299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63053081 63071765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63065474 63068867 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63065474 63068867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63070443 63070534 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63070447 63070545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63071065 63071930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63076002 63092182 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63076002 63092182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63076002 63092182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6310886 6310956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACER1 chr19 63108954 63119790 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63108954 63119790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63108954 63119790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63110121 63119756 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6312463 6319913 Gain and loss Pancreatic cancer SNP array 17952125 ACER1 chr19 6312463 6319915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 6312463 6319915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 63125063 63138552 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 63125064 63138552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63125064 63138552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63128808 63138548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63143083 63506437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63144018 63150889 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63144018 63150889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63144018 63150889 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63144018 63150889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63161619 63177716 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63161619 63177716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63161619 63177716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63161619 63177716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63180252 63206526 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 63180261 63206526 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63180261 63206526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63180261 63206526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63180529 63208120 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63205241 63210382 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63205241 63210382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63205241 63210382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6323444 6326040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 6323444 6326040 Gain and loss Pancreatic cancer SNP array 17952125 ACER1 chr19 6323444 6326040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 63237212 63257811 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63237212 63257811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63237212 63257811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63237246 63257811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63259788 63259973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 63262418 63272920 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 63262422 63272583 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63262422 63272583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63262422 63272583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63262424 63272920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6326305 6326860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 6326305 6326860 Gain and loss Pancreatic cancer SNP array 17952125 ACER1 chr19 6326305 6326860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 63273150 63273468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63273150 63273468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63273646 63273732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63273646 63273732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63287020 63301435 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63287022 63301389 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63287022 63301428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63287022 63301428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6329247 6329687 Gain and loss Pancreatic cancer SNP array 17952125 ACER1 chr19 6329247 6329687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 6330580 6344291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 6330580 6344291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACER1 chr19 6330740 6344184 Gain and loss Pancreatic cancer SNP array 17952125 ACER1 chr19 63309581 63309918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 63329431 63345843 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63329509 63345843 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63329509 63345843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63329509 63345843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63364701 63364797 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63364723 63364795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63386208 63416739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63386208 63416739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63386208 63416739 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63386208 63416739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63402921 63811651 Deletion Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr19 63418381 63442225 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr19 63419355 63419739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63419358 63419739 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63431882 63466822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63431882 63466822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9634376 9711759 Gain or loss Breast cancer - 20668451 SLC25A33,TMEM201 chr1 9634376 9711759 Gain or loss Cancer - 20668451 SLC25A33,TMEM201 chr1 9634376 9711759 Gain or loss Lung cancer - 20668451 SLC25A33,TMEM201 chr1 9634376 9711759 Gain or loss Ovarian cancer - 20668451 SLC25A33,TMEM201 chr1 9634376 9711759 Gain or loss Pancreas cancer - 20668451 SLC25A33,TMEM201 chr1 9634376 9711759 Gain or loss Prostate cancer - 20668451 SLC25A33,TMEM201 chr1 9634377 9711759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A33,TMEM201 chr1 9634377 9711759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A33,TMEM201 chr19 63447140 63467185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 63447140 63467270 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63461542 63461781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 6347380 6363349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLPP chr19 6347380 6363349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLPP chr19 6347388 6362920 Gain and loss Pancreatic cancer SNP array 17952125 CLPP chr19 63482130 63499066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63482130 63499066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63482130 63499066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63508555 63518830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63514606 63629648 Gain aortic dissecting aneurysms Array-CGH 22263138 NOT_FOUND chr19 63515347 63518375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63522443 63522763 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63522443 63522763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9635266 9637231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A33 chr1 9635266 9637231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A33 chr19 63530001 63701500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 63530197 63545504 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63530197 63545507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63530197 63545507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63541593 63717416 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr19 63548356 63556669 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63548356 63556669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63548356 63556669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63555147 63558361 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr19 63557537 63565932 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63557537 63565932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63566677 63566751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63570805 63573051 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63570805 63573051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63590448 63597982 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63590448 63597982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63590994 63785051 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr19 63603856 63604290 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63607435 63610475 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63607435 63610475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63611867 63661011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63611875 63648682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63611875 63648682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63635994 63643401 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63635994 63643401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63635994 63643401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6364118 6375822 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ALKBH7,CLPP,PSPN chr19 6364121 6375822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALKBH7,CLPP,PSPN chr19 6364121 6375822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALKBH7,CLPP,PSPN chr19 6364359 6375805 Gain and loss Pancreatic cancer SNP array 17952125 ALKBH7,CLPP,PSPN chr19 636546 646472 Gain and loss Pancreatic cancer SNP array 17952125 FGF22 chr19 63654778 63661011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63654778 63661011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 636548 646483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGF22 chr19 636548 646483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF22 chr1 96365515 97659862 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,PTBP2 chr19 63670275 63676577 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63670275 63676577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63670275 63676577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63679564 63684403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63679607 63684403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63679607 63684403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63701501 63704000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 63701516 63715244 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63701516 63715244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63701516 63715244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63704001 63811651 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 63716711 63722733 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63716711 63722733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63716711 63722733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96372242 96372302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 63727018 63727111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 63736798 63811651 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr19 63747647 63753894 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 63747647 63753894 Gain or loss Cancer - 20668451 NOT_FOUND chr19 63747647 63753894 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 63747647 63753894 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 63747647 63753894 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 63747647 63753894 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 63747648 63753894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63747648 63753894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63747648 63753894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63754746 63758298 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63754746 63758298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63754746 63758298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63755066 63755701 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 63758892 63762147 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 63758892 63762155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63758892 63762155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63765097 63776754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63765097 63776754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6377050 6384790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2F1 chr19 6377050 6384790 Gain and loss Pancreatic cancer SNP array 17952125 GTF2F1 chr19 6377050 6384790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2F1 chr19 63778135 63778355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63778624 63802660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 63778641 63785935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6378491 6380845 Gain Autism 1M Ailent CGH whole-genome array 21865298 GTF2F1 chr19 63788278 63788432 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 6383162 6609863 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CD70,CRB3,DENND1C,GTF2F1,KHSRP,MIR3940,SLC25A23,SLC25A41,TNFSF9,TUBB4A chr19 6387093 6410781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2F1 chr19 6387093 6410781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2F1 chr19 6389747 6410781 Gain and loss Pancreatic cancer SNP array 17952125 GTF2F1 chr1 964001 994500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGRN chr19 640065 640153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF22 chr1 96403478 96403638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 96403479 96403639 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6414788 6418225 Gain and loss Pancreatic cancer SNP array 17952125 KHSRP,MIR3940 chr19 641491 642174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF22 chr19 6415260 6418225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KHSRP,MIR3940 chr19 6415260 6418225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KHSRP,MIR3940 chr19 6418219 6432798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KHSRP,SLC25A41 chr19 6418219 6432798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KHSRP,SLC25A41 chr19 642025 1523369 Copy number Normal - 20703242 ABCA7,ADAMTSL5,APC2,ARID3A,ATP5D,AZU1,C19orf21,C19orf24,C19orf25,C19orf26,C19orf6,CFD,CIRBP,CIRBP-AS1,CNN2,DAZAP1,EFNA2,ELANE,FGF22,FSTL3,GAMT,GPX4,GRIN3B,HMHA1,KISS1R,LPPR3,MED16,MIDN,MIR3187,MIR4745,MUM1,NDUFS7,PALM,PCSK4,POLR2E,PRSS57,PRTN3,PTBP1,R3HDM4,REEP6,RNF126,RPS15,SBNO2,STK11,WDR18 chr1 96422058 97499607 LOH Normal High-resolution SNP genotyping 21211785 PTBP2 chr19 6427852 6427852 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 SLC25A41 chr19 6427852 6427852 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 SLC25A41 chr1 9643479 9645273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 64418 19716580 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ABCA7,ABHD8,ACER1,ACP5,ACSBG2,ACTL9,ADAMTS10,ADAMTSL5,ADAT3,AES,AKAP8,AKAP8L,ALKBH7,AMH,ANGPTL4,ANGPTL6,ANKLE1,ANKRD24,ANO8,AP1M1,AP1M2,AP3D1,APBA3,APC2,ARHGEF18,ARID3A,ARMC6,ARRDC2,ARRDC5,ASF1B,ASNA1,ATCAY,ATG4D,ATP5D,ATP8B3,AZU1,B3GNT3,BABAM1,BEST2,BRD4,BSG,BST2,BTBD2,C19orf10,C19orf21,C19orf24,C19orf25,C19orf26,C19orf35,C19orf38,C19orf42,C19orf43,C19orf44,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf6,C19orf60,C19orf66,C19orf70,C19orf71,C19orf77,C19orf80,C2CD4C,C3,C3P1,CACNA1A,CACTIN,CACTIN-AS1,CALR,CALR3,CAMSAP3,CAPS,CARM1,CASP14,CATSPERD,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CCDC94,CCL25,CD209,CD320,CD70,CD97,CDC34,CDC37,CDKN2D,CELF5,CERS1,CERS4,CFD,CHAF1A,CHERP,CIB3,CILP2,CIRBP,CIRBP-AS1,CLEC17A,CLEC4G,CLEC4GP1,CLEC4M,CLPP,CNN1,CNN2,COL5A3,COMP,COPE,CPAMD8,CRB3,CREB3L3,CRLF1,CRTC1,CSNK1G2,CSNK1G2-AS1,CTXN1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DAPK3,DAZAP1,DCAF15,DDA1,DDX39A,DDX49,DENND1C,DHPS,DIRAS1,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,DOHH,DOT1L,DPP9,DUS3L,EBI3,ECSIT,EEF2,EFNA2,EIF3G,ELANE,ELAVL1,ELAVL3,ELL,ELOF1,EMR1,EMR2,EMR3,EMR4P,EPHX3,EPOR,EPS15L1,EVI5L,F2RL3,FAM108A1,FAM125A,FAM129C,FAM138A,FAM138F,FAM32A,FARSA,FBN3,FBXL12,FBXW9,FCER2,FCHO1,FDX1L,FEM1A,FGF22,FKBP8,FLJ22184,FLJ25328,FLJ25758,FLJ45445,FSD1,FSTL3,FUT3,FUT5,FUT6,FZR1,GADD45B,GADD45GIP1,GAMT,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GIPC3,GLT25D1,GNA11,GNA15,GNG7,GPR108,GPX4,GRIN3B,GTF2F1,GTPBP3,GZMM,HAPLN4,HAUS8,HCN2,HDGFRP2,HMG20B,HMHA1,HNRNPM,HOMER3,HOOK2,HSD11B1L,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,INSR,ISYNA1,IZUMO4,JAK3,JSRP1,JUNB,JUND,KANK2,KANK3,KCNN1,KDM4B,KEAP1,KHSRP,KIAA1683,KISS1R,KLF1,KLF16,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINGO3,LMNB2,LOC100128568,LOC100128573,LOC100131094,LOC100288123,LOC100507373,LOC113230,LOC284385,LOC284454,LOC388499,LOC729966,LONP1,LPHN1,LPPR2,LPPR3,LRG1,LRRC25,LRRC8E,LSM4,LSM7,LYL1,MADCAM1,MAN2B1,MAP1S,MAP2K2,MAP2K7,MARCH2,MAST1,MAST3,MATK,MAU2,MBD3,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MED16,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MEX3D,MFSD12,MIDN,MIER2,MIR1181,MIR1227,MIR1238,MIR1470,MIR181C,MIR181D,MIR1909,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3187,MIR3188,MIR3189,MIR3940,MIR4321,MIR4322,MIR4745,MIR4746,MIR4747,MIR4748,MIR4999,MIR637,MIR638,MIR639,MIR7-3,MIR7-3HG,MKNK2,MLLT1,MOB3A,MPND,MPV17L2,MRI1,MRPL34,MRPL4,MRPL54,MUC16,MUM1,MYO1F,MYO9B,NACC1,NANOS3,NCAN,NCLN,NDUFA11,NDUFA13,NDUFA7,NDUFB7,NDUFS7,NFIC,NFIX,NMRK2,NOTCH3,NR2C2AP,NR2F6,NRTN,NWD1,NXNL1,OAZ1,OCEL1,ODF3L2,OLFM2,ONECUT3,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR2Z1,OR4F17,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM,PALM3,PBX4,PCP2,PCSK4,PDE4A,PDE4C,PET100,PEX11G,PGLS,PGLYRP2,PGPEP1,PIAS4,PIK3R2,PIN1,PIP5K1C,PKN1,PLAC2,PLEKHJ1,PLIN3,PLIN4,PLIN5,PLK5,PLVAP,PNPLA6,PODNL1,POLR2E,POLRMT,PPAN,PPAN-P2RY11,PPAP2C,PRAM1,PRDX2,PRKACA,PRKCSH,PRR22,PRSS57,PRTN3,PSPN,PTBP1,PTGER1,PTPRS,QTRT1,R3HDM4,RAB11B,RAB11B-AS1,RAB3A,RAB3D,RAB8A,RAD23A,RANBP3,RASAL3,RAVER1,RAX2,RDH8,REEP6,RETN,REXO1,RFX1,RFX2,RFXANK,RGL3,RLN3,RNASEH2A,RNF126,RPL18A,RPL36,RPS15,RPS28,RTBDN,S1PR2,S1PR4,S1PR5,SAFB,SAFB2,SAMD1,SBNO2,SCAMP4,SEMA6B,SF3A2,SGTA,SH2D3A,SH3GL1,SHC2,SHD,SIN3B,SIRT6,SLC1A6,SLC25A23,SLC25A41,SLC25A42,SLC27A1,SLC35E1,SLC39A3,SLC44A2,SLC5A5,SMARCA4,SNAPC2,SNORA68,SNORD105,SNORD105B,SNORD37,SNORD41,SPC24,SPPL2B,SSBP4,STAP2,STK11,STX10,STXBP2,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TBXA2R,TCF3,TECR,TGFBR3L,THEG,THOP1,TICAM1,TIMM13,TIMM44,TJP3,TLE2,TLE6,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TMIGD2,TMPRSS9,TNFAIP8L1,TNFSF14,TNFSF9,TNPO2,TPGS1,TPM4,TRAPPC5,TRIP10,TRMT1,TSPAN16,TSSK6,TUBB4A,TYK2,UBA52,UBL5,UBXN6,UCA1,UHRF1,UNC13A,UPF1,UQCR11,USE1,USHBP1,VAV1,VMAC,WASH5P,WDR18,WDR83,WDR83OS,WIZ,XAB2,YIPF2,YJEFN3,ZBTB7A,ZFR2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF554,ZNF555,ZNF556,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF57,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF77,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNRF4,ZSWIM4 chr19 6445331 6453330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A23 chr19 6445331 6453330 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A23 chr19 6445331 6453330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A23 chr19 6446947 6447057 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A23 chr19 6446959 6447045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A23 chr19 6459361 6459850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC25A23 chr1 9646068 9721907 Gain and loss Pancreatic cancer SNP array 17952125 C1orf200,PIK3CD,TMEM201 chr1 96464045 96464204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9646953 9648910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6482037 6486933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6482037 6486933 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6482037 6486933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6523967 6524068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6523969 6524068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6523970 6524068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6536850 6542163 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6536867 6542163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6536867 6542163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6544338 6544794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6555695 6555750 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr19 659948 699328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSTL3,PRSS57,RNF126 chr19 659948 699328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSTL3,PRSS57,RNF126 chr19 660002 699328 Gain and loss Pancreatic cancer SNP array 17952125 FSTL3,PRSS57,RNF126 chr19 6608001 6783000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3,GPR108,SH2D3A,TNFSF14,TRIP10,VAV1 chr19 6615568 6621599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6615568 6621599 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6615568 6621599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6617870 6617965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 96624450 96626188 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 96628796 96629537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6628846 6671662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFSF14 chr19 6628846 6671662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFSF14 chr19 6628878 6671660 Gain and loss Pancreatic cancer SNP array 17952125 TNFSF14 chr19 6641744 6641746 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr19 6644142 6645818 Gain Normal 244K array 17666407 NOT_FOUND chr1 96656738 96657077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6678292 6717594 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3 chr19 6681068 6688566 Gain and loss Pancreatic cancer SNP array 17952125 C3 chr19 6681068 6688587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3 chr19 6681068 6688587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3 chr1 96685074 96686462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6690707 6702526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3 chr19 6690707 6702526 Gain and loss Pancreatic cancer SNP array 17952125 C3 chr19 6690707 6702526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3 chr19 6703171 6718480 Gain and loss Pancreatic cancer SNP array 17952125 C3 chr19 6703309 6718599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3 chr19 6703309 6718599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3 chr19 6723721 6808371 Copy number Lung cancer - 20668451 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723721 6808371 Gain or loss Breast cancer - 20668451 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723721 6808371 Gain or loss Cancer - 20668451 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723721 6808371 Gain or loss Lung cancer - 20668451 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723721 6808371 Gain or loss Ovarian cancer - 20668451 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723721 6808371 Gain or loss Pancreas cancer - 20668451 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723721 6808371 Gain or loss Prostate cancer - 20668451 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723722 6808371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723722 6808371 Gain and loss Pancreatic cancer SNP array 17952125 GPR108,SH2D3A,TRIP10,VAV1 chr19 6723722 6808371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR108,SH2D3A,TRIP10,VAV1 chr19 6728001 6733500 Deletion Glioma mate-paired sequence 20126413 GPR108 chr19 6729918 6730093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR108 chr19 67328695 67426945 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 NOT_FOUND chr19 67328695 67426945 Deletion Gastric cancer oligo-CGH-arrays and long-range-PCR 19168852 NOT_FOUND chr19 67328695 67426945 Deletion hereditary diffuse gastric cancer MLPA Array CGH 20591882 NOT_FOUND chr19 67328695 67426945 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 67328695 67426945 Gain or loss Cancer - 20668451 NOT_FOUND chr19 67328695 67426945 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 67328695 67426945 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 67328695 67426945 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 67328695 67426945 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 67328695 67426945 Loss Gastric cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr19 67328695 67426945 Loss Lobular carcinoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr19 67328695 67426945 Nonsense Breast cancer - 20616022 NOT_FOUND chr19 6737366 6737456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR108 chr19 6737888 6737964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6737888 6737964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6743097 7058904 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1141K arrays 21546498 EMR1,EMR4P,FLJ25758,MBD3L2,MBD3L3,MBD3L4,MBD3L5,SH2D3A,TRIP10,VAV1 chr1 96760789 96761103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 96761997 96762311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 96768966 96769803 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr1 96792864 96792964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 96795143 96840107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 96795246 110397675 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ACTG1P4,AGL,AKNAD1,AMIGO1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ATXN7L2,C1orf194,CDC14A,CELSR2,CLCC1,COL11A1,CYB561D1,DBT,DNAJA1P5,DPH5,DPYD,DPYD-AS1,EPS8L3,EXTL2,FAM102B,FNDC7,FRRS1,GNAI3,GNAT2,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HENMT1,HIAT1,KIAA1324,LOC100128787,LOC100129138,LOC100129620,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR197,MIR2682,MIR548AA1,MIR548D1,MIR553,MYBPHL,NBPF4,NBPF6,NTNG1,OLFM3,PALMD,PRMT6,PRPF38B,PSMA5,PSRC1,PTBP2,RNPC3,RNU6-6,RTCA,S1PR1,SARS,SASS6,SCARNA2,SLC25A24,SLC30A7,SLC35A3,SNX7,SORT1,SRG7,STXBP3,SYPL2,TAF13,TMEM167B,TRMT13,VAV3,VAV3-AS1,VCAM1,WDR47 chr1 96821356 96821670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96822565 96822871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 682349 682449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL3 chr19 6838577 6891463 Gain and loss Pancreatic cancer SNP array 17952125 EMR1,VAV1 chr19 6838581 6891464 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 EMR1,VAV1 chr19 6838581 6891464 Gain or loss Breast cancer - 20668451 EMR1,VAV1 chr19 6838581 6891464 Gain or loss Cancer - 20668451 EMR1,VAV1 chr19 6838581 6891464 Gain or loss Lung cancer - 20668451 EMR1,VAV1 chr19 6838581 6891464 Gain or loss Ovarian cancer - 20668451 EMR1,VAV1 chr19 6838581 6891464 Gain or loss Pancreas cancer - 20668451 EMR1,VAV1 chr19 6838581 6891464 Gain or loss Prostate cancer - 20668451 EMR1,VAV1 chr19 6838582 6903102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMR1,VAV1 chr19 6838582 6903102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR1,VAV1 chr19 6849585 7060545 Loss or gain Normal 244K array 17666407 EMR1,EMR4P,FLJ25758,MBD3L2,MBD3L3,MBD3L4,MBD3L5,VAV1 chr19 68496958 68821174 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr1 96851239 96851339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 6852545 7058904 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1148K arrays 21546498 EMR1,EMR4P,FLJ25758,MBD3L2,MBD3L3,MBD3L4,MBD3L5,VAV1 chr19 6854537 6921492 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EMR1,VAV1 chr19 6855583 6855670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VAV1 chr1 96856451 96857197 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 96861306 96861400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 6873532 6873627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 96873536 96873753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 96899360 96992368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 6900000 12600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Copy number Acute myeloid leukemia parental-origin-determination fluorescence in situ hybridization 21358987 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Deletion Sotos syndrome Affymetrix 6.0 SNP array 21204797 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Duplication Sotos syndrome Affymetrix 6.0 SNP array 21204797 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Indels Chronic lymphocytic leukemia Multiplex ligation-dependent probe amplification 21049055 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 12600000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ATG4D,C19orf38,C19orf45,C19orf52,C19orf59,C19orf66,C19orf80,C3P1,CAMSAP3,CARM1,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FBN3,FBXL12,FCER2,FDX1L,FLJ22184,FLJ25758,HNRNPM,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,INSR,KANK2,KANK3,KEAP1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,MAP2K7,MARCH2,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NDUFA7,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAVER1,RDH8,RETN,RGL3,RPS28,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SPC24,STXBP2,SWSAP1,TGFBR3L,TIMM44,TMED1,TMEM205,TRAPPC5,TSPAN16,TYK2,UBL5,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Copy number Glioblastoma Array CGH 17090523 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Deletion T-cell acute lymphoblastic leukemia Array CGH 18185524 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 13900000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 6900000 14000000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ARHGEF18,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf45,C19orf52,C19orf53,C19orf57,C19orf59,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CAMSAP3,CARM1,CCDC130,CCDC151,CCDC159,CCL25,CD209,CD320,CDC37,CDKN2D,CERS4,CLEC4G,CLEC4GP1,CLEC4M,CNN1,COL5A3,CTXN1,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL1,ELAVL3,ELOF1,EMR1,EMR4P,EPOR,EVI5L,FARSA,FBN3,FBXL12,FBXW9,FCER2,FDX1L,FLJ22184,FLJ25758,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,INSR,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100128573,LOC284385,LOC284454,LOC388499,LPPR2,LRRC8E,LYL1,MAN2B1,MAP2K7,MARCH2,MAST1,MBD3L1,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,MIR1181,MIR1238,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR4322,MIR4748,MIR4999,MIR638,MRI1,MRPL4,MUC16,MYO1F,NACC1,NANOS3,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PCP2,PDE4A,PET100,PEX11G,PIN1,PNPLA6,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RETN,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNAPC2,SNORD105,SNORD105B,SNORD41,SPC24,STX10,STXBP2,SWSAP1,SYCE2,TGFBR3L,TIMM44,TMED1,TMEM205,TNPO2,TRAPPC5,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,XAB2,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF358,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF557,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZSWIM4 chr19 6903510 6941857 Gain or loss Breast cancer - 20668451 EMR1 chr19 6903510 6941857 Gain or loss Cancer - 20668451 EMR1 chr19 6903510 6941857 Gain or loss Lung cancer - 20668451 EMR1 chr19 6903510 6941857 Gain or loss Ovarian cancer - 20668451 EMR1 chr19 6903510 6941857 Gain or loss Pancreas cancer - 20668451 EMR1 chr19 6903510 6941857 Gain or loss Prostate cancer - 20668451 EMR1 chr19 6908004 6941857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMR1 chr19 6908004 6941857 Gain and loss Pancreatic cancer SNP array 17952125 EMR1 chr19 6908004 6941857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR1 chr1 96917018 96935139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96917018 96935139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6926998 6938786 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EMR1 chr19 6932889 6932989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EMR1 chr1 96934051 96934311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96934103 96934320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6938463 6938792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EMR1 chr19 6939270 6950596 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EMR1 chr19 6943104 6943219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 969553 969607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGRN chr1 96959927 97052937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 96959927 97052937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 6962501 6963500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMR4P chr19 6963501 7255250 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMR4P,FLJ25758,INSR,MBD3L2,MBD3L3,MBD3L4,MBD3L5,ZNF557 chr19 6969982 6972443 Gain and loss Pancreatic cancer SNP array 17952125 EMR4P chr19 6969982 6972443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR4P chr1 9698001 9708000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 6981588 6984018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR4P chr19 6981588 6984020 Gain and loss Pancreatic cancer SNP array 17952125 EMR4P chr19 6988759 6991190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMR4P chr19 6988759 6991190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMR4P chr1 96999862 97044521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 7000350 7002781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7000350 7002781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7007216 7009645 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr19 7007220 7009651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7007220 7009651 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7007220 7009651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 97017634 98719689 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DPYD,DPYD-AS1,LOC729987,MIR137,MIR137HG,MIR2682,PTBP2 chr19 7020471 7038979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBD3L4,MBD3L5 chr19 7020471 7038979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBD3L4,MBD3L5 chr19 7020716 7035907 Gain and loss Pancreatic cancer SNP array 17952125 MBD3L5 chr19 702126 715318 Gain and loss Pancreatic cancer SNP array 17952125 PALM chr19 702133 715318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PALM chr19 702133 715318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PALM chr19 7022382 7036480 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MBD3L5 chr19 7022382 7070563 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MBD3L2,MBD3L3,MBD3L4,MBD3L5,ZNF557 chr19 7022382 7120276 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 INSR,MBD3L2,MBD3L3,MBD3L4,MBD3L5,ZNF557 chr19 704863 793512 Copy number Autism exome sequencing 22495311 C19orf21,PALM chr19 7057638 7059257 Duplication Schizophrenia NimbleGen HD2 platform 21346763 MBD3L3 chr19 7063265 7245011 Gain or loss Breast cancer - 20668451 INSR,ZNF557 chr19 7063265 7245011 Gain or loss Cancer - 20668451 INSR,ZNF557 chr19 7063265 7245011 Gain or loss Lung cancer - 20668451 INSR,ZNF557 chr19 7063265 7245011 Gain or loss Ovarian cancer - 20668451 INSR,ZNF557 chr19 7063265 7245011 Gain or loss Pancreas cancer - 20668451 INSR,ZNF557 chr19 7063265 7245011 Gain or loss Prostate cancer - 20668451 INSR,ZNF557 chr19 7063266 7245011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INSR,ZNF557 chr19 7063266 7245011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INSR,ZNF557 chr19 7067638 7245011 Gain and loss Pancreatic cancer SNP array 17952125 INSR,ZNF557 chr1 97079225 97659578 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,PTBP2 chr1 9708001 9818000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf200,CLSTN1,PIK3CD chr19 7091398 7091498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 7092871 7541871 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGEF18,INSR,LOC100128573,PEX11G chr1 9711452 10730783 LOH Normal High-resolution SNP genotyping 21211785 APITD1,APITD1-CORT,C1orf200,CASZ1,CLSTN1,CORT,CTNNBIP1,DFFA,KIF1B,LZIC,NMNAT1,PEX14,PGD,PIK3CD,RBP7,UBE4B chr1 9711667 9807137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1orf200,CLSTN1,PIK3CD chr1 9711667 9807137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1orf200,CLSTN1,PIK3CD chr1 97140843 97140936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 97154138 97725917 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,PTBP2 chr1 971588 985903 Copy number Autism exome sequencing 22495311 AGRN chr1 97162205 97186638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 9717753 9717836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3CD chr1 97183094 98719689 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DPYD,DPYD-AS1,LOC729987,MIR137,MIR137HG,MIR2682,PTBP2 chr19 7197862 7198025 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INSR chr19 7209363 7210292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INSR chr1 9723352 9818850 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN1,PIK3CD chr19 7254650 7334428 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 INSR chr19 7255251 7581000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF18,C19orf45,INSR,LOC100128573,PEX11G chr1 97255323 98098600 Gain and loss Pancreatic cancer SNP array 17952125 DPYD,DPYD-AS1,PTBP2 chr1 97270358 97270413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTBP2 chr1 97290584 97290684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 97304927 97305027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 97315887 98159203 Deletion Cancer MLPA and array-based CGH 20803296 DPYD,DPYD-AS1 chr1 97315887 98159203 Deletion or duplication Colorectal cancer MLPA 20653680 DPYD,DPYD-AS1 chr1 97315890 98159203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPYD,DPYD-AS1 chr1 97315890 98159203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYD,DPYD-AS1 chr19 7325563 7325651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 7351866 7443370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7351866 7443370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7351866 7443370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7357300 7360022 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr1 97360274 97380699 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr19 737551 737695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PALM chr1 97385720 97385843 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 NOT_FOUND chr1 97387094 97387194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 97413319 97413416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 7417350 7417382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 7429361 7530268 Duplication Schizophrenia NimbleGen HD2 platform 21346763 ARHGEF18 chr1 974412 975537 Gain and loss Pancreatic cancer SNP array 17952125 AGRN chr19 7447761 7459905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7447761 7459905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7447761 7459905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7452483 7483823 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGEF18 chr1 97464879 97464979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 7468460 7479336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF18 chr19 7468460 7479336 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF18 chr19 7468460 7479336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF18 chr1 97470728 97500568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 7471963 7472027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF18 chr1 97472761 97484336 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 97472761 97492787 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 748411 763327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf21 chr19 748411 763327 Gain and loss Pancreatic cancer SNP array 17952125 C19orf21 chr19 748411 763327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf21 chr1 97484336 97493258 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 97484336 97493258 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 7487004 7491912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF18 chr19 7487004 7491912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF18 chr1 97488027 97492787 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr1 97488027 97493258 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr19 7490088 7491911 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF18 chr19 7493512 7504864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF18 chr19 7493512 7504864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF18 chr19 7493512 7504868 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF18 chr1 97496705 98573903 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,MIR137,MIR137HG,MIR2682 chr1 97498286 98150103 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr1 97498286 98573903 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,MIR137,MIR137HG,MIR2682 chr1 97498924 98573903 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,MIR137,MIR137HG,MIR2682 chr1 97499756 98573903 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,MIR137,MIR137HG,MIR2682 chr19 7505043 7532652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF18 chr19 7505043 7532652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF18 chr19 7505075 7532647 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF18 chr19 7560988 7600021 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C19orf45,MCOLN1,PNPLA6,ZNF358 chr19 75623901 63811651 Deletion Glioma mate-paired sequence 20126413 chr19 7566788 7588981 Gain and loss Pancreatic cancer SNP array 17952125 C19orf45,MCOLN1,ZNF358 chr19 7566788 7589194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf45,MCOLN1,ZNF358 chr19 7566788 7589194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf45,MCOLN1,ZNF358 chr19 7581001 7616500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MCOLN1,PNPLA6,ZNF358 chr19 7590412 7600439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCOLN1,PNPLA6 chr19 7590412 7600439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCOLN1,PNPLA6 chr19 7590415 7600451 Gain and loss Pancreatic cancer SNP array 17952125 MCOLN1,PNPLA6 chr19 7602509 7604636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNPLA6 chr19 7602509 7604636 Gain and loss Pancreatic cancer SNP array 17952125 PNPLA6 chr19 7602509 7604636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNPLA6 chr19 7603425 7603509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PNPLA6 chr1 9760552 9791753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLSTN1,PIK3CD chr19 7608010 7618758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNPLA6 chr19 7608010 7618758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNPLA6 chr19 7608013 7618758 Gain and loss Pancreatic cancer SNP array 17952125 PNPLA6 chr1 9761013 9761058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3CD chr1 97614617 97614707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD,DPYD-AS1 chr19 7616501 7815500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C19orf59,CAMSAP3,CD209,CLEC4G,FCER2,PCP2,PET100,PNPLA6,RETN,STXBP2,TRAPPC5,XAB2 chr1 97622631 98220480 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr19 763435 772967 Gain and loss Pancreatic cancer SNP array 17952125 C19orf21 chr19 763518 772952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf21 chr19 763518 772952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf21 chr19 7639972 7641340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7639972 7641340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7639972 7641340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7647514 7650708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7647514 7650708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7647514 7650708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7647942 7650719 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr19 7651761 7653742 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7651761 7653748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7651761 7653748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 97654636 97654736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD,DPYD-AS1 chr1 97658152 97666898 Copy number loss Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr1 97658613 98437224 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr19 7659663 7672997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMSAP3 chr19 7659663 7672997 Gain and loss Pancreatic cancer SNP array 17952125 CAMSAP3 chr19 7659663 7672997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMSAP3 chr19 7662976 7663119 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 CAMSAP3 chr1 97663342 98439202 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr1 97666898 98439912 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr1 97668607 98439912 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr19 76710707 76862756 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 76710707 76862756 Gain or loss Cancer - 20668451 NOT_FOUND chr19 76710707 76862756 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 76710707 76862756 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 76710707 76862756 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 76710707 76862756 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 7678188 7678228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMSAP3 chr19 7687435 7689574 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 XAB2 chr1 97691576 97719841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPYD,DPYD-AS1 chr19 7698759 7698827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 769939 770256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 7699847 7703057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP2 chr19 7699847 7703057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP2 chr19 7699852 7703009 Gain and loss Pancreatic cancer SNP array 17952125 STXBP2 chr19 7710882 7718406 Gain and loss Pancreatic cancer SNP array 17952125 STXBP2 chr19 7710883 7718420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP2 chr19 7710883 7718420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP2 chr19 7711343 7712667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP2 chr19 7711370 7712832 Gain and loss Pancreatic cancer SNP array 17952125 STXBP2 chr1 97721217 98499978 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,MIR137HG chr19 7734081 7740490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RETN chr19 7734081 7740490 Gain and loss Pancreatic cancer SNP array 17952125 RETN chr19 7734081 7740490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RETN chr1 977454 977534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGRN chr19 7759747 7761897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FCER2 chr19 7759747 7761897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FCER2 chr19 776097 783017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 776097 783017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 776097 783017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 97765352 98716080 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,LOC729987,MIR137,MIR137HG,MIR2682 chr19 7769331 7769661 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr1 97773476 97773576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD,DPYD-AS1 chr1 97773759 97786353 Copy number loss Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr1 97774024 98716080 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,LOC729987,MIR137,MIR137HG,MIR2682 chr1 97779541 98337469 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr1 97779541 98500580 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1,MIR137HG chr1 9778205 9778305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3CD chr1 97783845 97785102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPYD,DPYD-AS1 chr1 97783845 97785102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYD,DPYD-AS1 chr1 97786353 98418731 LOH Normal High-resolution SNP genotyping 21211785 DPYD,DPYD-AS1 chr1 97787851 97787945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD,DPYD-AS1 chr1 9778925 10706826 Deletion Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 APITD1,APITD1-CORT,CASZ1,CLSTN1,CORT,CTNNBIP1,DFFA,KIF1B,LZIC,NMNAT1,PEX14,PGD,PIK3CD,RBP7,UBE4B chr1 97794409 98009752 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DPYD chr1 97796832 97796982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD chr19 7801243 7835861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD209,CLEC4M chr19 7801243 7835861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD209,CLEC4M chr19 7815501 7908500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLEC4GP1,CLEC4M,EVI5L chr19 7817377 7835861 Gain and loss Pancreatic cancer SNP array 17952125 CLEC4M chr1 97824006 97824438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYD chr1 97833490 97833640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD chr1 97835137 97879447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPYD chr19 7839606 7841962 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7839631 7842008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7839631 7842008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 978436 978486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGRN chr1 97846611 97846683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD chr19 7850330 7850782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7857861 7857980 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7857862 7857980 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7857862 7857981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7859390 7872906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7859390 7872906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7859390 7872908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7874728 7885362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7874764 7885363 Gain or loss Breast cancer - 20668451 NOT_FOUND chr19 7874764 7885363 Gain or loss Cancer - 20668451 NOT_FOUND chr19 7874764 7885363 Gain or loss Lung cancer - 20668451 NOT_FOUND chr19 7874764 7885363 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr19 7874764 7885363 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr19 7874764 7885363 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr19 7874765 7885363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7874765 7885363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 7891229 7894134 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 7891229 7904843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EVI5L chr19 7891229 7904843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5L chr19 7893541 7894369 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 7895372 7897051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EVI5L chr19 7895372 7897051 Gain and loss Pancreatic cancer SNP array 17952125 EVI5L chr19 7895372 7897051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5L chr19 7897604 7914538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EVI5L chr19 7897604 7914538 Gain and loss Pancreatic cancer SNP array 17952125 EVI5L chr19 7897604 7914538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EVI5L chr19 7906001 8056393 Duplication Normal Affymetrix 6.0 microarrays 20967226 CTXN1,ELAVL1,EVI5L,FLJ22184,LOC388499,LRRC8E,MAP2K7,SNAPC2,TGFBR3L,TIMM44 chr19 7908501 8670500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTS10,ANGPTL4,CCL25,CD320,CERS4,CTXN1,ELAVL1,EVI5L,FBN3,FLJ22184,HNRNPM,KANK3,LOC388499,LRRC8E,MAP2K7,MARCH2,MIR4999,MYO1F,NDUFA7,PRAM1,RAB11B,RAB11B-AS1,RPS28,SNAPC2,TGFBR3L,TIMM44,ZNF414 chr19 7911697 7911797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EVI5L chr19 791961 799051 Gain and loss Pancreatic cancer SNP array 17952125 PTBP1 chr19 791985 799175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTBP1 chr19 791985 799175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTBP1 chr19 7929456 7976529 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 EVI5L,FLJ22184,LOC388499,LRRC8E,MAP2K7 chr19 7929458 8415925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCL25,CD320,CERS4,CTXN1,ELAVL1,EVI5L,FBN3,FLJ22184,KANK3,LOC388499,LRRC8E,MAP2K7,NDUFA7,RPS28,SNAPC2,TGFBR3L,TIMM44 chr19 7929458 8415925 Gain and loss Pancreatic cancer SNP array 17952125 CCL25,CD320,CERS4,CTXN1,ELAVL1,EVI5L,FBN3,FLJ22184,KANK3,LOC388499,LRRC8E,MAP2K7,NDUFA7,RPS28,SNAPC2,TGFBR3L,TIMM44 chr19 7929458 8415925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCL25,CD320,CERS4,CTXN1,ELAVL1,EVI5L,FBN3,FLJ22184,KANK3,LOC388499,LRRC8E,MAP2K7,NDUFA7,RPS28,SNAPC2,TGFBR3L,TIMM44 chr1 97963502 97963602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD chr19 7973537 7973602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2K7 chr1 979995 980069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGRN chr1 98000000 105700000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ACTG1P4,AGL,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,CDC14A,COL11A1,DBT,DNAJA1P5,DPH5,DPYD,EXTL2,FRRS1,GPR88,HIAT1,LOC100128787,LOC100129138,LOC100129620,LOC729987,LPPR4,LPPR5,LRRC39,MIR137,MIR137HG,MIR2682,MIR548AA1,MIR548D1,MIR553,OLFM3,PALMD,RNPC3,RNU6-6,RTCA,S1PR1,SASS6,SLC30A7,SLC35A3,SNX7,TRMT13,VCAM1 chr1 98012813 98013170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYD chr1 98013668 98047544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPYD chr1 98020548 98039337 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DPYD chr19 8023651 8033547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELAVL1 chr19 8023651 8033547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELAVL1 chr19 8023934 8033547 Gain and loss Pancreatic cancer SNP array 17952125 ELAVL1 chr1 98025993 98039337 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DPYD chr1 98027932 98039337 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DPYD chr1 98031872 98081306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPYD chr19 803291 807242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4745,PTBP1 chr19 803291 807242 Gain and loss Pancreatic cancer SNP array 17952125 MIR4745,PTBP1 chr19 803291 807242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4745,PTBP1 chr19 8036287 8118650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCL25,ELAVL1 chr19 8036287 8118650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCL25,ELAVL1 chr19 8036287 8120730 Gain and loss Pancreatic cancer SNP array 17952125 CCL25,ELAVL1 chr19 8062796 8064237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ELAVL1 chr19 807885 807985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTBP1 chr19 809907 834696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AZU1,LPPR3,MIR3187,PTBP1 chr19 810665 814606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPPR3,MIR3187,PTBP1 chr19 810665 814606 Gain and loss Pancreatic cancer SNP array 17952125 LPPR3,MIR3187,PTBP1 chr19 810665 814606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPPR3,MIR3187,PTBP1 chr19 812414 833157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AZU1,LPPR3,MIR3187 chr19 8124201 8152128 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCL25,FBN3 chr19 8135424 8136437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBN3 chr1 98142332 98461980 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 DPYD,MIR137HG chr1 98145861 98145940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD chr19 8149012 8150965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBN3 chr1 9818001 9872000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLSTN1 chr19 8180257 8233302 Gain and loss Pancreatic cancer SNP array 17952125 FBN3 chr19 8180257 8233302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBN3 chr19 818961 844218 Gain and loss Pancreatic cancer SNP array 17952125 AZU1,LPPR3,PRTN3 chr19 818964 844218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AZU1,LPPR3,PRTN3 chr19 818964 844218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AZU1,LPPR3,PRTN3 chr19 8200000 15100000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ASF1B,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf52,C19orf53,C19orf57,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CARM1,CC2D1A,CCDC130,CCDC151,CCDC159,CD320,CD97,CDC37,CDKN2D,CERS4,CLEC17A,CNN1,COL5A3,DAND5,DCAF15,DDX39A,DHPS,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL3,ELOF1,EMR2,EMR3,EPOR,FARSA,FBN3,FBXL12,FBXW9,FDX1L,GADD45GIP1,GCDH,GIPC1,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IL27RA,ILF3,ILF3-AS1,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC100507373,LOC113230,LOC284385,LOC284454,LPHN1,LPPR2,LYL1,MAN2B1,MARCH2,MAST1,MBD3L1,MIR1181,MIR1238,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR4322,MIR4748,MIR4999,MIR638,MIR639,MRI1,MRPL4,MUC16,MYO1F,NACC1,NANOS3,NDUFA7,NDUFB7,NFIX,OLFM2,OR1M1,OR2Z1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM3,PDE4A,PIN1,PKN1,PODNL1,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKACA,PRKCSH,PTGER1,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RFX1,RGL3,RLN3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SAMD1,SLC1A6,SLC44A2,SMARCA4,SNORD105,SNORD105B,SNORD41,SPC24,STX10,SWSAP1,SYCE2,TECR,TMED1,TMEM205,TNPO2,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF333,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZSWIM4 chr19 821082 834072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AZU1,LPPR3 chr1 98222446 98222967 Gain and loss Pancreatic cancer SNP array 17952125 DPYD chr1 98223647 98223748 Gain and loss Pancreatic cancer SNP array 17952125 DPYD chr19 8229484 8277710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS4 chr1 98232141 98904658 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 DPYD,LOC729987,MIR137,MIR137HG,MIR2682 chr19 8234372 8271751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8237615 8276742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS4 chr19 8237656 8291544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS4 chr19 824017 824160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 8240939 8256196 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 8241640 8265746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8245005 8269670 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8246221 8274202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8246501 8274717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS4 chr19 8246860 8271056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8251222 8251301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 825409 832366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AZU1 chr19 8255107 8314146 Gain and loss Pancreatic cancer SNP array 17952125 CERS4 chr19 8256197 8271067 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr19 8256197 8271067 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 8273011 8279239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS4 chr19 8273011 8279239 Gain and loss Pancreatic cancer SNP array 17952125 CERS4 chr19 8273011 8279239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS4 chr19 827370 845070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AZU1,PRTN3 chr19 8274559 8274598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CERS4 chr19 8275 236875 Loss Oral cancer 105K CGH oligonucleotide array 21386901 FAM138A,FAM138F,FLJ45445,OR4F17,WASH5P chr19 8282234 8292280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS4 chr19 8282234 8292280 Gain and loss Pancreatic cancer SNP array 17952125 CERS4 chr19 8282234 8292280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS4 chr1 98282476 98284000 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DPYD chr1 98283013 98283534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYD chr1 98284214 98284315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYD chr19 8293467 8314146 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CERS4 chr19 8293469 8314146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS4 chr19 8293469 8314146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS4 chr1 98301040 98320090 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DPYD chr1 98302772 98320090 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DPYD chr1 9830921 9892908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLSTN1 chr1 9830921 9892908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN1 chr19 8313427 8313511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CERS4 chr1 98315162 98315642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYD chr19 8316001 8322300 Deletion Glioma mate-paired sequence 20126413 CERS4 chr19 8317741 8320481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CERS4 chr1 98321615 98321715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYD chr19 8335011 8345257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 8335011 8345257 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 8335011 8345257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 8354349 13778678 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1143K arrays 21546498 ACP5,ACTL9,ADAMTS10,ANGPTL4,ANGPTL6,AP1M2,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf52,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CARM1,CCDC151,CCDC159,CD320,CDC37,CDKN2D,CNN1,COL5A3,DAND5,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL3,ELOF1,EPOR,FARSA,FBXL12,FBXW9,FDX1L,GADD45GIP1,GCDH,HNRNPM,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,ILF3,ILF3-AS1,JUNB,KANK2,KANK3,KEAP1,KLF1,KRI1,LDLR,LOC284385,LPPR2,LYL1,MAN2B1,MARCH2,MAST1,MBD3L1,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR4999,MIR638,MRPL4,MUC16,MYO1F,NACC1,NDUFA7,NFIX,OLFM2,OR1M1,OR2Z1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PDE4A,PIN1,PPAN,PPAN-P2RY11,PRAM1,PRDX2,PRKCSH,QTRT1,RAB11B,RAB11B-AS1,RAB3D,RAD23A,RAVER1,RDH8,RGL3,RNASEH2A,RPS28,RTBDN,S1PR2,S1PR5,SLC44A2,SMARCA4,SNORD105,SNORD105B,SNORD41,SPC24,STX10,SWSAP1,SYCE2,TMED1,TMEM205,TNPO2,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF177,ZNF20,ZNF266,ZNF317,ZNF414,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF558,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878 chr19 8361296 8374479 Gain and loss Pancreatic cancer SNP array 17952125 CD320 chr19 8361301 8375318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD320 chr19 8361301 8375318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD320 chr19 8384187 8409895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANK3,NDUFA7,RPS28 chr19 8384187 8409895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANK3,NDUFA7,RPS28 chr1 98387419 98387519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 8389289 8409895 Gain and loss Pancreatic cancer SNP array 17952125 KANK3 chr1 98389366 98389421 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 8415651 8459885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANGPTL4,MIR4999,RAB11B,RAB11B-AS1 chr19 8415651 8459885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANGPTL4,MIR4999,RAB11B,RAB11B-AS1 chr19 8415651 8459994 Gain and loss Pancreatic cancer SNP array 17952125 ANGPTL4,MIR4999,RAB11B,RAB11B-AS1 chr1 98416984 98652139 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-272K arrays 21546498 MIR137,MIR137HG,MIR2682 chr19 8420411 8420717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 8420430 8420530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 9842600 9904548 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN1 chr19 844484 844590 Gain and loss Pancreatic cancer SNP array 17952125 PRTN3 chr19 844484 844590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRTN3 chr1 9845057 10655316 LOH Normal High-resolution SNP genotyping 21211785 APITD1,APITD1-CORT,CLSTN1,CORT,CTNNBIP1,DFFA,KIF1B,LZIC,NMNAT1,PEX14,PGD,RBP7,UBE4B chr19 8453166 9107337 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ACTL9,ADAMTS10,HNRNPM,MARCH2,MBD3L1,MIR4999,MUC16,MYO1F,OR2Z1,PRAM1,RAB11B,RAB11B-AS1,ZNF414,ZNF558 chr19 8459322 8677581 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ADAMTS10,HNRNPM,MARCH2,MYO1F,PRAM1,RAB11B,ZNF414 chr19 8460941 8473495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11B chr19 8460941 8473495 Gain and loss Pancreatic cancer SNP array 17952125 RAB11B chr19 8460941 8473495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11B chr19 8463267 8463386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB11B chr19 847503 864200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CFD,ELANE,PRTN3 chr19 847503 864200 Gain and loss Pancreatic cancer SNP array 17952125 CFD,ELANE,PRTN3 chr19 847503 864200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFD,ELANE,PRTN3 chr1 9847532 9897379 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CLSTN1 chr19 8481463 8485044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCH2 chr19 8481463 8485044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH2 chr19 8482224 8485032 Gain and loss Pancreatic cancer SNP array 17952125 MARCH2 chr1 98483718 98518054 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR137,MIR137HG,MIR2682 chr19 8491681 8548330 Gain and loss Pancreatic cancer SNP array 17952125 HNRNPM,MARCH2 chr19 8491689 8548330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPM,MARCH2 chr19 8491689 8548330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPM,MARCH2 chr19 8516422 9146595 LOH Normal High-resolution SNP genotyping 21211785 ACTL9,ADAMTS10,HNRNPM,MBD3L1,MUC16,MYO1F,OR2Z1,PRAM1,ZNF414,ZNF558 chr1 98544216 98544311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 8551126 8581588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPM,PRAM1,ZNF414 chr19 8551126 8581588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPM,PRAM1,ZNF414 chr19 8551611 8579140 Gain and loss Pancreatic cancer SNP array 17952125 HNRNPM,PRAM1,ZNF414 chr1 98564788 98564938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 8587951 8988821 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ACTL9,ADAMTS10,MBD3L1,MUC16,MYO1F,OR2Z1,ZNF558 chr1 98592973 98594117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 98605294 98605464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 98611529 98611643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 8620812 8620899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1F chr19 8633943 8634348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO1F chr19 8633962 8634311 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO1F chr19 8660000 9160000 Loss Breast cancer aCGH 21509527 ACTL9,ADAMTS10,MBD3L1,MUC16,OR2Z1,ZNF558 chr19 8668801 8670051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS10 chr19 8668801 8670051 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS10 chr19 8668801 8670051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS10 chr19 868342 872014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED16 chr19 868342 872014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED16 chr19 868358 872013 Gain and loss Pancreatic cancer SNP array 17952125 MED16 chr19 8684242 8751492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 868622 868692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED16 chr19 8691080 8742965 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8702391 8703335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 8702391 8703335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 8702391 8703335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 8706164 8727439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8714179 8722235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 8714331 8864039 Loss Barrett's syndrome BAC array 19417022 ACTL9,OR2Z1 chr19 8714332 8864039 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 ACTL9,OR2Z1 chr19 8716313 8763271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8716371 8742073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8719093 8725990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8721564 8796961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8724877 8776684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8733580 8741789 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8741869 8744192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8743028 8784826 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr19 8750627 8761175 Loss or gain Normal 244K array 17666407 NOT_FOUND chr19 8758670 8832847 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ACTL9 chr19 8758670 8832847 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACTL9 chr19 8758670 8832847 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACTL9 chr19 877037 923781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KISS1R,MED16,R3HDM4 chr19 877037 923781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KISS1R,MED16,R3HDM4 chr19 877037 923801 Gain and loss Pancreatic cancer SNP array 17952125 KISS1R,MED16,R3HDM4 chr19 8781382 8794565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 8781382 8794565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 8781382 8794565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 98790452 98790537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 98798234 98798334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 8798775 8798864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 8814332 8814995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 8814332 8814995 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 8814332 8814995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 98816854 98817339 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 8820519 8953018 Copy number Lung cancer - 20668451 OR2Z1,ZNF558 chr19 8820519 8953018 Gain or loss Breast cancer - 20668451 OR2Z1,ZNF558 chr19 8820519 8953018 Gain or loss Cancer - 20668451 OR2Z1,ZNF558 chr19 8820519 8953018 Gain or loss Lung cancer - 20668451 OR2Z1,ZNF558 chr19 8820519 8953018 Gain or loss Ovarian cancer - 20668451 OR2Z1,ZNF558 chr19 8820519 8953018 Gain or loss Pancreas cancer - 20668451 OR2Z1,ZNF558 chr19 8820519 8953018 Gain or loss Prostate cancer - 20668451 OR2Z1,ZNF558 chr19 8820521 8880340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR2Z1 chr19 8820521 8880340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR2Z1 chr1 988308 994570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGRN chr1 988308 994570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGRN chr1 98839234 98938075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 8854953 8864763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8856051 8856194 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 8858091 8875872 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr19 8875808 8909190 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 8885135 8952814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF558 chr1 988946 989986 Gain and loss Pancreatic cancer SNP array 17952125 AGRN chr1 98899801 98998642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 98899801 98998642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 98903591 98903687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 8904424 8952814 Gain and loss Pancreatic cancer SNP array 17952125 ZNF558 chr19 8909535 8949195 Substitutions and indels small cell lung cancer array-CGH 20016488 ZNF558 chr1 98917582 98917657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 98930624 98975314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 98932598 98932698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 98943464 98943559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 98952531 98952637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 8954523 20369367 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD8,ACP5,AKAP8,AKAP8L,ANGPTL6,ANKLE1,ANO8,AP1M1,AP1M2,ARMC6,ARRDC2,ASF1B,ASNA1,ATG4D,ATP13A1,B3GNT3,BABAM1,BEST2,BRD4,BST2,C19orf38,C19orf42,C19orf43,C19orf44,C19orf52,C19orf53,C19orf57,C19orf60,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CALR3,CARM1,CASP14,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CD97,CDC37,CDKN2D,CERS1,CHERP,CIB3,CILP2,CLEC17A,CNN1,COL5A3,COMP,COPE,CPAMD8,CRLF1,CRTC1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DCAF15,DDA1,DDX39A,DDX49,DHPS,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL3,ELL,ELOF1,EMR2,EMR3,EPHX3,EPOR,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FARSA,FBXL12,FBXW9,FCHO1,FDX1L,FKBP8,FLJ25328,GADD45GIP1,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HOMER3,HOOK2,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,ISYNA1,JAK3,JUNB,JUND,KANK2,KCNN1,KEAP1,KIAA1683,KLF1,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LOC100507373,LOC113230,LOC284385,LOC284454,LOC729966,LPAR2,LPHN1,LPPR2,LRRC25,LSM4,LYL1,MAN2B1,MAP1S,MAST1,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1181,MIR1238,MIR1470,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR4322,MIR4748,MIR638,MIR639,MPV17L2,MRI1,MRPL34,MRPL4,MUC16,MYO9B,NACC1,NANOS3,NCAN,NDUFA13,NDUFB7,NFIX,NOTCH3,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,OLFM2,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM3,PBX4,PDE4A,PDE4C,PGLS,PGLYRP2,PGPEP1,PIK3R2,PIN1,PKN1,PLVAP,PODNL1,PPAN,PPAN-P2RY11,PRDX2,PRKACA,PRKCSH,PTGER1,QTRT1,RAB3A,RAB3D,RAB8A,RAD23A,RASAL3,RAVER1,RDH8,RFX1,RFXANK,RGL3,RLN3,RNASEH2A,RPL18A,RTBDN,S1PR2,S1PR5,SAMD1,SIN3B,SLC1A6,SLC25A42,SLC27A1,SLC35E1,SLC44A2,SLC5A5,SMARCA4,SNORA68,SNORD105,SNORD105B,SNORD41,SPC24,SSBP4,STX10,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TECR,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TNPO2,TPM4,TRMT1,TSPAN16,TSSK6,TYK2,UBA52,UBL5,UCA1,UNC13A,UPF1,USE1,USHBP1,WDR83,WDR83OS,WIZ,YIPF2,YJEFN3,ZGLP1,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF253,ZNF266,ZNF317,ZNF333,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF506,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF682,ZNF69,ZNF699,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZNF90,ZNF93,ZSWIM4 chr19 8979708 8979808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MUC16 chr19 8980992 8981092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MUC16 chr1 989877 989987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGRN chr19 8995815 9024714 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MUC16 chr1 99015448 99699479 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100129620,LPPR5,SNX7 chr19 902641 1095485 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCA7,ARID3A,C19orf6,CNN2,GRIN3B,HMHA1,KISS1R,POLR2E,R3HDM4,WDR18 chr19 902641 1495933 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCA7,APC2,ARID3A,ATP5D,C19orf24,C19orf25,C19orf26,C19orf6,CIRBP,CIRBP-AS1,CNN2,DAZAP1,EFNA2,GAMT,GPX4,GRIN3B,HMHA1,KISS1R,MIDN,MUM1,NDUFS7,PCSK4,POLR2E,R3HDM4,REEP6,RPS15,SBNO2,STK11,WDR18 chr19 902641 1495933 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ABCA7,APC2,ARID3A,ATP5D,C19orf24,C19orf25,C19orf26,C19orf6,CIRBP,CIRBP-AS1,CNN2,DAZAP1,EFNA2,GAMT,GPX4,GRIN3B,HMHA1,KISS1R,MIDN,MUM1,NDUFS7,PCSK4,POLR2E,R3HDM4,REEP6,RPS15,SBNO2,STK11,WDR18 chr19 9059998 9069903 Loss Normal Quantitative PCR 18989455 MUC16 chr19 9064921 9065862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MUC16 chr19 9064921 9065862 Gain and loss Pancreatic cancer SNP array 17952125 MUC16 chr19 9064921 9065862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUC16 chr1 99067831 99182202 Gain and loss Pancreatic cancer SNP array 17952125 SNX7 chr19 9072031 9085047 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 MUC16 chr19 9073945 9074919 Gain and loss Pancreatic cancer SNP array 17952125 MUC16 chr19 9073945 9074982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MUC16 chr19 9073945 9074982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUC16 chr1 99076170 99076270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 9086274 9087439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MUC16 chr19 9086274 9087439 Gain and loss Pancreatic cancer SNP array 17952125 MUC16 chr19 9086274 9087439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUC16 chr19 9097688 9098626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9097688 9098626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9097688 9098626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9101400 9626700 LOH Normal High-resolution SNP genotyping 21211785 OR1M1,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,ZNF177,ZNF266,ZNF317,ZNF559,ZNF559-ZNF177,ZNF560,ZNF699 chr19 9108814 28099306 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ABHD8,ACP5,AKAP8,AKAP8L,ANGPTL6,ANKLE1,ANO8,AP1M1,AP1M2,ARMC6,ARRDC2,ASF1B,ASNA1,ATG4D,ATP13A1,B3GNT3,BABAM1,BEST2,BRD4,BST2,C19orf38,C19orf42,C19orf43,C19orf44,C19orf52,C19orf53,C19orf57,C19orf60,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CALR3,CARM1,CASP14,CC2D1A,CCDC105,CCDC124,CCDC130,CCDC151,CCDC159,CD97,CDC37,CDKN2D,CERS1,CHERP,CIB3,CILP2,CLEC17A,CNN1,COL5A3,COMP,COPE,CPAMD8,CRLF1,CRTC1,CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,DAND5,DCAF15,DDA1,DDX39A,DDX49,DHPS,DNAJB1,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL3,ELL,ELOF1,EMR2,EMR3,EPHX3,EPOR,EPS15L1,F2RL3,FAM125A,FAM129C,FAM32A,FARSA,FBXL12,FBXW9,FCHO1,FDX1L,FKBP8,FLJ25328,GADD45GIP1,GATAD2A,GCDH,GDF1,GDF15,GIPC1,GLT25D1,GMIP,GTPBP3,HAPLN4,HAUS8,HAVCR1P1,HOMER3,HOOK2,HSH2D,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IFI30,IL12RB1,IL27RA,ILF3,ILF3-AS1,ILVBL,INSL3,ISYNA1,JAK3,JUNB,JUND,KANK2,KCNN1,KEAP1,KIAA1683,KLF1,KLF2,KLHL26,KRI1,KXD1,LDLR,LINC00661,LINC00663,LOC100507373,LOC113230,LOC284385,LOC284454,LOC400680,LOC440518,LOC641367,LOC729966,LPAR2,LPHN1,LPPR2,LRRC25,LSM4,LYL1,MAN2B1,MAP1S,MAST1,MAST3,MAU2,MED26,MEF2B,MEF2BNB,MEF2BNB-MEF2B,MIR1181,MIR1238,MIR1270-1,MIR1270-2,MIR1470,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR3188,MIR3189,MIR4322,MIR4748,MIR638,MIR639,MPV17L2,MRI1,MRPL34,MRPL4,MYO9B,NACC1,NANOS3,NCAN,NDUFA13,NDUFB7,NFIX,NOTCH3,NR2C2AP,NR2F6,NWD1,NXNL1,OCEL1,OLFM2,OR10H1,OR10H2,OR10H3,OR10H4,OR10H5,OR1I1,OR1M1,OR7A10,OR7A17,OR7A5,OR7C1,OR7C2,OR7D2,OR7D4,OR7E24,OR7G1,OR7G2,OR7G3,P2RY11,PALM3,PBX4,PDE4A,PDE4C,PGLS,PGLYRP2,PGPEP1,PIK3R2,PIN1,PKN1,PLVAP,PODNL1,PPAN,PPAN-P2RY11,PRDX2,PRKACA,PRKCSH,PTGER1,QTRT1,RAB3A,RAB3D,RAB8A,RAD23A,RASAL3,RAVER1,RDH8,RFX1,RFXANK,RGL3,RLN3,RNASEH2A,RPL18A,RPSAP58,RTBDN,S1PR2,S1PR5,SAMD1,SIN3B,SLC1A6,SLC25A42,SLC27A1,SLC35E1,SLC44A2,SLC5A5,SMARCA4,SNORA68,SNORD105,SNORD105B,SNORD41,SPC24,SSBP4,STX10,SUGP1,SUGP2,SWSAP1,SYCE2,SYDE1,TECR,TM6SF2,TMED1,TMEM161A,TMEM205,TMEM221,TMEM38A,TMEM59L,TNPO2,TPM4,TRMT1,TSPAN16,TSSK6,TYK2,UBA52,UBL5,UCA1,UNC13A,UPF1,USE1,USHBP1,WDR83,WDR83OS,WIZ,YIPF2,YJEFN3,ZGLP1,ZNF100,ZNF101,ZNF121,ZNF136,ZNF14,ZNF177,ZNF20,ZNF208,ZNF253,ZNF254,ZNF257,ZNF266,ZNF317,ZNF333,ZNF426,ZNF429,ZNF43,ZNF430,ZNF431,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF486,ZNF490,ZNF491,ZNF492,ZNF493,ZNF506,ZNF559,ZNF559-ZNF177,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF626,ZNF627,ZNF653,ZNF675,ZNF676,ZNF681,ZNF682,ZNF69,ZNF699,ZNF700,ZNF708,ZNF709,ZNF714,ZNF724P,ZNF726,ZNF728,ZNF729,ZNF737,ZNF738,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF826P,ZNF833P,ZNF844,ZNF846,ZNF85,ZNF878,ZNF90,ZNF91,ZNF93,ZNF98,ZNF99,ZSWIM4 chr19 9112073 9135089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9112073 9135089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9112073 9135089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9113723 9126325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 9911584 9926052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNBIP1 chr1 9911584 9926052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBIP1 chr1 99117053 99117596 Loss Normal 244K array 17666407 NOT_FOUND chr1 9912362 9925413 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 CTNNBIP1 chr19 9125790 9125870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 99126380 99126470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 99128388 99243037 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SNX7 chr1 99128391 99243037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX7 chr1 99128391 99243037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX7 chr19 9128749 9174321 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 99129546 100273004 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FRRS1,LOC100129620,LPPR4,LPPR5,MIR548AA1,MIR548D1,PALMD,SNX7 chr19 9132324 9172170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 99134366 99134451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX7 chr19 9135672 9139121 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr19 9146251 9151308 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr19 9146251 9151308 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 9157279 9160493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9157279 9160493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9157458 9158396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 99173974 99174074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX7 chr1 99177415 99177500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNX7 chr19 9185575 9186513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9185575 9186513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9185575 9186513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 918584 1028701 Loss Normal Birdsuite, version 1.5.2 22087296 ARID3A,C19orf6,CNN2,GRIN3B,KISS1R,WDR18 chr19 91954272 91995781 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr19 9207135 9207812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9207135 9207812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9222720 9223739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9222720 9223739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9222945 9223739 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9232730 9233200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9232730 9233200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9237066 9237820 Gain and loss Pancreatic cancer SNP array 17952125 OR7G3 chr1 9924313 9937603 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBIP1 chr1 99246362 99246618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 99252505 99270709 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr19 9253140 9253284 Loss Normal 244K array 17666407 ZNF317 chr1 9926072 9968143 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 CTNNBIP1 chr1 9926073 9968143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNBIP1 chr1 9926073 9968143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBIP1 chr19 9265951 9274110 Gain and loss Pancreatic cancer SNP array 17952125 ZNF317 chr19 9265951 9276795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF317 chr19 9265951 9276795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF317 chr19 9295855 9314744 Gain and loss Pancreatic cancer SNP array 17952125 OR7D2 chr19 9295855 9315519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR7D2 chr19 9295855 9315519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR7D2 chr1 99299150 99299241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 9929963 9930281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBIP1 chr1 99307179 99307257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 9310011 9310440 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr19 9334696 9353864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9334696 9353864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 99338650 99338936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9349941 9353864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 935328 945569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID3A chr19 935328 945569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID3A chr19 935343 945556 Gain and loss Pancreatic cancer SNP array 17952125 ARID3A chr19 9357001 9401267 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR7E24 chr19 9361714 9365100 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 OR7E24 chr1 9937774 9977428 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBIP1 chr19 9380643 9380697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 99381812 101510969 LOH Normal High-resolution SNP genotyping 21211785 AGL,CDC14A,DBT,DPH5,EXTL2,FRRS1,GPR88,HIAT1,LOC100128787,LOC100129620,LPPR4,LPPR5,LRRC39,MIR548AA1,MIR548D1,MIR553,PALMD,RTCA,SASS6,SLC30A7,SLC35A3,TRMT13,VCAM1 chr19 9384272 9407234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF699 chr19 9384272 9407234 Gain and loss Pancreatic cancer SNP array 17952125 ZNF699 chr19 9384272 9407234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF699 chr1 99392117 99392207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPPR5 chr1 99400000 120700000 Gain Glioblastoma multiforme aCGH 21080181 ACTG1P4,ADAM30,ADORA3,AGL,AHCYL1,AKNAD1,AKR7A2P1,ALX3,AMIGO1,AMPD1,AMPD2,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,AP4B1,AP4B1-AS1,ATP1A1,ATP1A1OS,ATP5F1,ATXN7L2,BCAS2,BCL2L15,C1orf162,C1orf194,C1orf88,CAPZA1,CASQ2,CD101,CD2,CD53,CD58,CDC14A,CELSR2,CEPT1,CHI3L2,CHIA,CLCC1,COL11A1,CSDE1,CSF1,CTTNBP2NL,CYB561D1,CYMP,DBT,DCLRE1B,DDX20,DENND2C,DENND2D,DNAJA1P5,DPH5,DRAM2,EPS8L3,EXTL2,FAM102B,FAM19A3,FAM212B,FAM40A,FAM46C,FNDC7,FRRS1,GDAP2,GNAI3,GNAT2,GPR61,GPR88,GPSM2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5,HAO2,HENMT1,HIAT1,HIPK1,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,IGSF3,KCNA10,KCNA2,KCNA3,KCNC4,KCND3,KIAA1324,LAMTOR5,LINC00622,LOC100128787,LOC100129138,LOC100129269,LOC100129620,LOC100506343,LOC440600,LOC643355,LOC643441,LPPR4,LPPR5,LRIF1,LRIG2,LRRC39,MAB21L3,MAGI3,MAN1A2,MIR197,MIR320B1,MIR4256,MIR548AA1,MIR548D1,MIR553,MIR942,MOV10,MYBPHL,NBPF4,NBPF6,NBPF7,NGF,NHLH2,NOTCH2,NRAS,NTNG1,OLFM3,OLFML3,OVGP1,PALMD,PGCP1,PHGDH,PHTF1,PPM1J,PRMT6,PROK1,PRPF38B,PSMA5,PSRC1,PTGFRN,PTPN22,RAP1A,RBM15,REG4,RHOC,RNPC3,RNU6-6,RP11-165H20.1,RSBN1,RTCA,S1PR1,SARS,SASS6,SCARNA2,SIKE1,SLC16A1,SLC16A4,SLC22A15,SLC25A24,SLC30A7,SLC35A3,SLC6A17,SORT1,SPAG17,SRG7,ST7L,STXBP3,SYCP1,SYPL2,SYT6,TAF13,TBX15,TMEM167B,TRIM33,TRIM45,TRMT13,TSHB,TSPAN2,TTF2,UBL4B,VANGL1,VAV3,VAV3-AS1,VCAM1,VTCN1,WARS2,WDR3,WDR47,WDR77,WNT2B,ZNF697 chr1 99411228 99411328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPPR5 chr1 9941642 9941886 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBIP1 chr1 9941642 9941964 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBIP1 chr19 941844 941931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID3A chr1 99432018 99432118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPPR5 chr19 9438009 9470279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF559,ZNF559-ZNF177 chr19 9438009 9470279 Gain and loss Pancreatic cancer SNP array 17952125 ZNF559,ZNF559-ZNF177 chr19 9438009 9470279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF559,ZNF559-ZNF177 chr1 99441869 99487157 Gain and loss Pancreatic cancer SNP array 17952125 LOC100129620,LPPR5 chr19 94443 532070 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 C2CD4C,CDC34,FLJ45445,MADCAM1,MIER2,ODF3L2,OR4F17,PPAP2C,SHC2,THEG,TPGS1 chr1 994501 1018000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1orf159,RNF223 chr1 99456463 99456563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPPR5 chr19 946139 946173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARID3A chr19 9489745 9490997 Gain and loss Pancreatic cancer SNP array 17952125 ZNF177,ZNF559-ZNF177 chr19 9499683 9510303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9499683 9510303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9499683 9510303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9500000 14500000 Gain Cervical cancer Array CGH 21063398 ACP5,ANGPTL6,AP1M2,ASF1B,ASNA1,ATG4D,BEST2,C19orf38,C19orf43,C19orf52,C19orf53,C19orf57,C19orf66,C19orf80,C3P1,CACNA1A,CALR,CARM1,CC2D1A,CCDC130,CCDC151,CCDC159,CD97,CDC37,CDKN2D,CNN1,COL5A3,DAND5,DCAF15,DHPS,DNASE2,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL3,ELOF1,EPOR,FARSA,FBXL12,FBXW9,FDX1L,GADD45GIP1,GCDH,HOOK2,ICAM1,ICAM3,ICAM4,ICAM5,IER2,IL27RA,ILF3,ILF3-AS1,JUNB,KANK2,KEAP1,KLF1,KRI1,LDLR,LOC100507373,LOC113230,LOC284385,LOC284454,LPHN1,LPPR2,LYL1,MAN2B1,MAST1,MIR1181,MIR1238,MIR181C,MIR181D,MIR199A1,MIR23A,MIR24-2,MIR27A,MIR4322,MIR4748,MIR638,MRI1,MRPL4,NACC1,NANOS3,NFIX,OLFM2,P2RY11,PALM3,PDE4A,PIN1,PODNL1,PPAN,PPAN-P2RY11,PRDX2,PRKACA,PRKCSH,QTRT1,RAB3D,RAD23A,RAVER1,RDH8,RFX1,RGL3,RLN3,RNASEH2A,RTBDN,S1PR2,S1PR5,SAMD1,SLC44A2,SMARCA4,SNORD105,SNORD105B,SNORD41,SPC24,STX10,SWSAP1,SYCE2,TMED1,TMEM205,TNPO2,TRMT1,TSPAN16,TYK2,UBL5,WDR83,WDR83OS,YIPF2,ZGLP1,ZNF121,ZNF136,ZNF20,ZNF266,ZNF426,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF443,ZNF490,ZNF491,ZNF560,ZNF561,ZNF562,ZNF563,ZNF564,ZNF625,ZNF625-ZNF20,ZNF627,ZNF653,ZNF69,ZNF700,ZNF709,ZNF763,ZNF788,ZNF791,ZNF799,ZNF812,ZNF823,ZNF833P,ZNF844,ZNF846,ZNF878,ZSWIM4 chr1 99502436 99547734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100129620 chr1 99502436 99547734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100129620 chr1 99503319 99548526 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100129620 chr19 951436 960723 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ARID3A chr19 951437 959930 Gain and loss Pancreatic cancer SNP array 17952125 ARID3A chr19 951437 960721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID3A chr19 951437 960721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID3A chr19 9516934 9517034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 9532090 9532308 Gain and loss Pancreatic cancer SNP array 17952125 ZNF266 chr19 9537292 9556209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF266 chr19 9537292 9556209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF266 chr19 9537616 9538500 Gain and loss Pancreatic cancer SNP array 17952125 ZNF266 chr1 995677 1031235 Gain and loss Pancreatic cancer SNP array 17952125 C1orf159,RNF223 chr19 9579008 9592899 Gain and loss Pancreatic cancer SNP array 17952125 ZNF560 chr19 9580140 9592899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF560 chr19 9580140 9592899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF560 chr19 960650 972141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID3A chr19 960650 972141 Gain and loss Pancreatic cancer SNP array 17952125 ARID3A chr19 960650 972141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID3A chr19 961401 2277000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCA7,ADAMTSL5,ADAT3,AMH,AP3D1,APC2,ARID3A,ATP5D,ATP8B3,BTBD2,C19orf24,C19orf25,C19orf26,C19orf35,C19orf6,CIRBP,CIRBP-AS1,CNN2,CSNK1G2,CSNK1G2-AS1,DAZAP1,DOT1L,EFNA2,FAM108A1,GAMT,GPX4,GRIN3B,HMHA1,IZUMO4,JSRP1,KLF16,LOC100288123,MBD3,MEX3D,MIDN,MIR1227,MIR1909,MIR4321,MKNK2,MOB3A,MUM1,NDUFS7,OAZ1,ONECUT3,PCSK4,PLEKHJ1,PLK5,POLR2E,REEP6,REXO1,RPS15,SBNO2,SCAMP4,SF3A2,STK11,TCF3,UQCR11,WDR18 chr19 9620350 9646734 Gain and loss Pancreatic cancer SNP array 17952125 ZNF426 chr19 9620363 9646734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF426 chr19 9620363 9646734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF426 chr19 9630702 9630802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 99663470 99664231 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr19 9666206 10722778 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANGPTL6,AP1M2,ATG4D,C19orf66,C3P1,CDC37,CDKN2D,COL5A3,DNMT1,EIF3G,FBXL12,FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,KEAP1,KRI1,LOC284385,MIR1181,MIR1238,MIR4322,MRPL4,OLFM2,P2RY11,PDE4A,PIN1,PPAN,PPAN-P2RY11,RAVER1,RDH8,S1PR2,S1PR5,SLC44A2,SNORD105,SNORD105B,TYK2,UBL5,ZGLP1,ZNF121,ZNF561,ZNF562,ZNF812,ZNF846 chr1 99693177 99710149 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr1 99702522 99702922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9715828 9742451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC284385,ZNF561 chr1 99723335 99741747 Loss Normal Birdsuite, version 1.5.2 22087296 LPPR4 chr19 972521 972627 Gain and loss Pancreatic cancer SNP array 17952125 ARID3A chr19 972521 972627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID3A chr19 9727605 9727809 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF561 chr19 9729151 9740410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284385,ZNF561 chr19 9729151 9740410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284385,ZNF561 chr1 99739837 99784898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPPR4 chr1 99755483 100535802 LOH Normal High-resolution SNP genotyping 21211785 AGL,FRRS1,HIAT1,LPPR4,MIR548AA1,MIR548D1,PALMD,SLC35A3 chr1 99763184 99763279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPPR4 chr1 99767993 100273004 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FRRS1,LPPR4,MIR548AA1,MIR548D1,PALMD chr19 9771241 9771617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF562 chr19 977298 990060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR18 chr19 977298 990060 Gain and loss Pancreatic cancer SNP array 17952125 WDR18 chr19 977298 990060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR18 chr19 9781947 9790731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF562 chr19 9781947 9790731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF562 chr19 9781948 9790755 Gain and loss Pancreatic cancer SNP array 17952125 ZNF562 chr19 9782501 9817500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF562,ZNF812 chr19 9791649 9791770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9791681 9791770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9791682 9791770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9792204 9792281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 9979849 9998665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LZIC chr1 9979849 9998665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LZIC chr1 9979860 9998665 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 LZIC chr19 9799568 9801791 Gain and loss Pancreatic cancer SNP array 17952125 ZNF812 chr19 9799568 9801797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF812 chr19 9799568 9801797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF812 chr19 979998 980594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 99800000 101660000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 AGL,CDC14A,DBT,DPH5,EXTL2,FRRS1,GPR88,HIAT1,LOC100128787,LRRC39,MIR548AA1,MIR548D1,MIR553,PALMD,RTCA,SASS6,SLC30A7,SLC35A3,TRMT13,VCAM1 chr19 9806999 9821358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF812 chr19 9806999 9821358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF812 chr19 9807000 9821358 Gain and loss Pancreatic cancer SNP array 17952125 ZNF812 chr19 9812812 9812929 Loss Normal 244K array 17666407 NOT_FOUND chr1 9981301 10015131 Gain and loss Pancreatic cancer SNP array 17952125 LZIC,NMNAT1 chr19 9817501 9822500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr19 9822501 10258500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANGPTL6,C19orf66,C3P1,COL5A3,DNMT1,EIF3G,FBXL12,OLFM2,P2RY11,PIN1,PPAN,PPAN-P2RY11,RDH8,SNORD105,SNORD105B,UBL5,ZNF846 chr1 99823619 99872256 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9825395 9908070 Gain and loss Pancreatic cancer SNP array 17952125 ZNF846 chr19 9825438 9908228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF846 chr19 9825438 9908228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF846 chr1 99832810 99832910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 99861296 101048239 LOH Normal High-resolution SNP genotyping 21211785 AGL,CDC14A,DBT,FRRS1,GPR88,HIAT1,LRRC39,MIR548AA1,MIR548D1,MIR553,PALMD,RTCA,SASS6,SLC35A3,TRMT13 chr19 9869241 11695721 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACP5,ANGPTL6,AP1M2,ATG4D,C19orf38,C19orf52,C19orf66,C19orf80,C3P1,CARM1,CCDC151,CCDC159,CDC37,CDKN2D,CNN1,COL5A3,DNM2,DNMT1,DOCK6,ECSIT,EIF3G,ELAVL3,ELOF1,EPOR,FBXL12,FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,ILF3,ILF3-AS1,KANK2,KEAP1,KRI1,LDLR,LPPR2,MIR1181,MIR1238,MIR199A1,MIR4322,MIR4748,MIR638,MRPL4,OLFM2,P2RY11,PDE4A,PIN1,PPAN,PPAN-P2RY11,PRKCSH,QTRT1,RAB3D,RAVER1,RDH8,RGL3,S1PR2,S1PR5,SLC44A2,SMARCA4,SNORD105,SNORD105B,SPC24,SWSAP1,TMED1,TMEM205,TSPAN16,TYK2,UBL5,YIPF2,ZGLP1,ZNF653,ZNF846 chr1 99884018 99932684 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr1 99884186 99932823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 99886280 99943370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 99889994 100475885 LOH Normal High-resolution SNP genotyping 21211785 AGL,FRRS1,MIR548AA1,MIR548D1,PALMD,SLC35A3 chr19 991116 1016424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C19orf6,GRIN3B,WDR18 chr19 991116 1016424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C19orf6,GRIN3B,WDR18 chr1 9991521 10010338 Gain and loss Pancreatic cancer SNP array 17952125 LZIC,NMNAT1 chr19 9917601 10044100 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBXL12,OLFM2,PIN1,UBL5 chr19 992245 1016571 Gain and loss Pancreatic cancer SNP array 17952125 C19orf6,GRIN3B,WDR18 chr1 99930749 99930849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr19 9931237 9982147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLFM2,PIN1,UBL5 chr19 9931237 9982147 Gain and loss Pancreatic cancer SNP array 17952125 OLFM2,PIN1,UBL5 chr19 9931237 9982147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLFM2,PIN1,UBL5 chr1 99932385 100475885 LOH Normal High-resolution SNP genotyping 21211785 AGL,FRRS1,MIR548AA1,MIR548D1,PALMD,SLC35A3 chr1 99936386 99937322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9939435 10733001 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ANGPTL6,AP1M2,ATG4D,C19orf66,C3P1,CDC37,CDKN2D,COL5A3,DNMT1,EIF3G,FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,KEAP1,KRI1,MIR1181,MIR1238,MIR4322,MRPL4,OLFM2,P2RY11,PDE4A,PIN1,PPAN,PPAN-P2RY11,RAVER1,RDH8,S1PR2,S1PR5,SLC44A2,SNORD105,SNORD105B,TYK2,UBL5,ZGLP1 chr19 9943483 9943582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr1 99946847 100003937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr1 99946847 100003937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr19 9947425 9947525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIN1 chr1 99947682 100601821 Loss Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 AGL,FRRS1,HIAT1,MIR548AA1,MIR548D1,PALMD,SASS6,SLC35A3,TRMT13 chr19 9957861 9957945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIN1 chr1 99962305 99962462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 99962316 99962462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr1 99962841 99962923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr1 99969239 99969328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr19 9969683 9969793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLFM2 chr19 9984925 9993954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLFM2 chr19 9984925 9993954 Gain and loss Pancreatic cancer SNP array 17952125 OLFM2 chr19 9984925 9993954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLFM2 chr1 99989280 99989369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr20 0 62435964 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 10000 34590000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABHD12,ACSS1,ACSS2,ACTL10,ADAM33,ADRA1D,AHCY,ANGPT4,ANKRD5,AP5S1,APMAP,ASIP,ASXL1,ATRN,AVP,BANF2,BCL2L1,BFSP1,BMP2,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf112,C20orf141,C20orf144,C20orf152,C20orf160,C20orf173,C20orf194,C20orf196,C20orf202,C20orf203,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CBFA2T2,CD93,CDC25B,CDK5RAP1,CDS2,CENPB,CEP250,CHGB,CHMP4B,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DNMT3B,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EIF2S2,EIF6,ENTPD6,ERGIC3,ESF1,FAM110A,FAM182A,FAM182B,FAM83C,FASTKD5,FER1L4,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GDF5,GFRA4,GGT7,GGTLC1,GINS1,GNRH2,GPCPD1,GSS,GZF1,HAO1,HCK,HM13,HM13-AS1,HMGB3P1,HSPA12B,ID1,IDH3B,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,KIF16B,KIF3B,LAMP5,LINC00028,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC149950,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAP1LC3A,MAPRE1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MKKS,MLLT10P1,MMP24,MRPS26,MYH7B,MYLK2,NAA20,NANP,NAPB,NCOA6,NCOR1P1,NDUFAF5,NECAB3,NFS1,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PHF20,PIGU,PLAGL2,PLCB1,PLCB4,PLK1S1,POFUT1,POLR3F,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMF1,PTPRA,PXMP4,PYGB,RAD21L1,RALGAPA2,RALY,RASSF2,RBBP9,RBCK1,RBM12,RBM39,REM1,RIN2,RNF24,ROMO1,RRBP1,RSPO4,SCAND1,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX5,SOX12,SPAG4,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SUN5,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TM9SF4,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TP53INP2,TPX2,TRIB3,TRMT6,TRPC4AP,TSPY26P,TTLL9,UBOX5,UBOX5-AS1,UQCC,VPS16,VSX1,XKR7,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF341,ZNF343 chr20 10059271 10059345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNAP25-AS1 chr20 10069599 10093732 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNAP25-AS1 chr20 10074041 10074141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNAP25-AS1 chr20 1011795 25261167 Substitutions and indels small cell lung cancer array-CGH 20016488 ACSS1,ADAM33,ADRA1D,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NAPB,NDUFAF5,NKX2-2,NKX2-4,NOP56,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RIN2,RNF24,RRBP1,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SPEF1,SPTLC3,SSTR4,STK35,SYNDIG1,TASP1,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZNF133,ZNF343 chr20 10147477 10236065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNAP25,SNAP25-AS1 chr20 10147477 10236065 Gain and loss Pancreatic cancer SNP array 17952125 SNAP25,SNAP25-AS1 chr20 10147477 10236065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAP25,SNAP25-AS1 chr20 10152962 10188299 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNAP25-AS1 chr20 1017065 1017165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1017159 1017229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 10194931 10195014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNAP25-AS1 chr20 10213446 10937659 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 C20orf94,JAG1,MKKS,SNAP25 chr20 10224066 10314894 Gain Stenocardia MACArray Karyo 88K BAC-chips 21860640 SNAP25 chr20 10224066 10314894 Gain Vasospasm MACArray Karyo 88K BAC-chips 21860640 SNAP25 chr20 10263067 10263346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAP25 chr20 10277805 10278276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAP25 chr20 10277805 10278282 Gain and loss Pancreatic cancer SNP array 17952125 SNAP25 chr20 10283923 11225755 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C20orf94,JAG1,MKKS,SNAP25 chr20 10290736 10290878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 10314427 10316454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 10333832 10362866 Copy number Gastric cancer Human cDNA microarrays 17229543 NOT_FOUND chr20 10333833 10362866 Copy number Autism exome sequencing 22495311 NOT_FOUND chr20 10333839 10362866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 10333839 10362866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 10333839 10362866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 10363949 10565012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf94,MKKS chr20 10363949 10565012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf94,MKKS chr20 10363950 10552027 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 C20orf94,MKKS chr20 10363950 10552027 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 C20orf94,MKKS chr20 10363951 10552027 Gain and loss Pancreatic cancer SNP array 17952125 C20orf94,MKKS chr20 10365404 10404586 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 MKKS chr20 10370000 10405000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 MKKS chr20 10375960 10399891 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 MKKS chr20 10375960 10407613 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 MKKS chr20 10377912 10378012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10377912 10378099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 104045 3923107 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ADAM33,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC4A11,SLC52A3,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1041241 1041341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1041906 1097022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMF1 chr20 1041906 1097022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMF1 chr20 1041939 1095971 Gain and loss Pancreatic cancer SNP array 17952125 PSMF1 chr20 10424071 11471083 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C20orf94,JAG1,LOC339593 chr20 1045995 1046095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10473479 10473579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf94 chr20 1048669 1653474 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C20orf202,FKBP1A,FKBP1A-SDCBP2,NSFL1C,PSMF1,RAD21L1,SDCBP2,SDCBP2-AS1,SIRPB1,SIRPB2,SIRPD,SIRPG,SNPH,TMEM74B chr20 10530927 10531011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf94 chr20 10541509 10542877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf94 chr20 10542084 10542842 Gain and loss Pancreatic cancer SNP array 17952125 C20orf94 chr20 10552298 10584430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C20orf94 chr20 10566331 10602694 Gain or loss Breast cancer - 20668451 C20orf94 chr20 10566331 10602694 Gain or loss Cancer - 20668451 C20orf94 chr20 10566331 10602694 Gain or loss Lung cancer - 20668451 C20orf94 chr20 10566331 10602694 Gain or loss Ovarian cancer - 20668451 C20orf94 chr20 10566331 10602694 Gain or loss Pancreas cancer - 20668451 C20orf94 chr20 10566331 10602694 Gain or loss Prostate cancer - 20668451 C20orf94 chr20 10566334 10602636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf94 chr20 10566334 10602636 Gain and loss Pancreatic cancer SNP array 17952125 C20orf94 chr20 10566334 10602636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf94 chr20 10575291 10575391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf94 chr20 10579088 10584793 Deletion Alagille syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 C20orf94 chr20 10587222 11901629 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BTBD3,C20orf94,JAG1,LOC339593 chr20 10600001 10603500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf94 chr20 10608283 10608383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10616499 10618079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 10618331 10654694 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 JAG1 chr20 10630037 10630135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JAG1 chr20 10686467 10686557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10733736 10733825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10772761 10772861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10782972 10783072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10786157 10786189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10787943 10787990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10791942 10792007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10817230 10817736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 10840138 11064725 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr20 10871055 10871140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1089228 1090321 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 1089228 1090339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 10894921 10895021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 10944738 10958017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 10944738 10958017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 10956811 10956936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 10963081 13536451 LOH Normal High-resolution SNP genotyping 21211785 BTBD3,ISM1,ISM1-AS1,LOC339593,SPTLC3,TASP1 chr20 1098054 1130516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMF1 chr20 10984355 10984493 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 10984355 10984493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 11041736 11041836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1105776 1105870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PSMF1 chr20 1109215 1113117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMF1 chr20 1109215 1113117 Gain and loss Pancreatic cancer SNP array 17952125 PSMF1 chr20 1109215 1113117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMF1 chr20 1110370 3654863 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ADAM33,ATRN,AVP,C20orf141,C20orf194,C20orf202,CPXM1,DDRGK1,EBF4,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,IDH3B,ITPA,LOC100289473,MIR1292,MRPS26,NOP56,NSFL1C,OXT,PCED1A,PDYN,PROSAPIP1,PSMF1,PTPRA,RAD21L1,SDCBP2,SDCBP2-AS1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC4A11,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,STK35,TGM3,TGM6,TMC2,TMEM239,TMEM74B,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 11125286 11138087 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 11142254 11142314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11179079 11180630 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr20 11181247 11215986 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 11189373 11189405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1 11900000 Deletion Medulloblastoma SNP arrays 21979893 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,C20orf96,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 11224580 11224680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11233092 11242270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 11240509 11251676 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC339593 chr20 11274031 11274503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 11284109 11284189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11297589 11297689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11301842 11301928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1132098 1136918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMF1 chr20 1132098 1136918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMF1 chr20 11321964 11322064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11354968 18550169 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1156K arrays 21546498 BANF2,BFSP1,BTBD3,C20orf72,CSRP2BP,DSTN,DZANK1,DZANK1-AS1,ESF1,FLRT3,ISM1,ISM1-AS1,KIF16B,LINC00493,MACROD2,MACROD2-AS1,MIR3192,NDUFAF5,OTOR,OVOL2,PCSK2,PET117,POLR3F,RBBP9,RRBP1,SEC23B,SEL1L2,SNORD17,SNRPB2,SNX5,SPTLC3,TASP1,ZNF133 chr20 11420846 11420946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1144405 1144495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PSMF1 chr20 11447045 11447145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11465266 11465588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 11483503 13886789 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BTBD3,ESF1,ISM1,ISM1-AS1,NDUFAF5,SEL1L2,SPTLC3,TASP1 chr20 1152202 1152302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11537083 11537698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 11537098 11537698 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 1154700 1237972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf202,RAD21L1,TMEM74B chr20 1154700 1237972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf202,RAD21L1,TMEM74B chr20 11549699 11550125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 1157098 1162834 Gain and loss Pancreatic cancer SNP array 17952125 TMEM74B chr20 11572880 11572920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 115904 1500031 Copy number Lung cancer paired-end sequencing 18438408 ANGPT4,C20orf202,C20orf96,CSNK2A1,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,FAM110A,FKBP1A,FKBP1A-SDCBP2,NRSN2,NSFL1C,PSMF1,RAD21L1,RBCK1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIRPB2,SLC52A3,SNPH,SOX12,SRXN1,TBC1D20,TCF15,TMEM74B,TRIB3,ZCCHC3 chr20 11595430 11596670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 11595937 11596037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1162240 1162340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM74B chr20 11638021 12381393 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BTBD3 chr20 116527 118264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 116527 118264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 116527 118264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 11667993 11668127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1168985 1177347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 11698413 11698558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 11727111 11727211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11737907 12214846 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BTBD3 chr20 11738880 11778258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 11747410 11747739 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 11747422 11747739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 11747501 11747738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 1 17800000 Deletion abortions and stillbirths array CGH 19751515 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,C20orf96,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,EBF4,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLRT3,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NDUFAF5,NOP56,NRSN2,NSFL1C,OTOR,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SOX12,SPEF1,SPTLC3,SRXN1,STK35,TASP1,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 17800000 Gain,loss Breast cancer - 16397240 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,C20orf96,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,EBF4,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLRT3,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NDUFAF5,NOP56,NRSN2,NSFL1C,OTOR,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SOX12,SPEF1,SPTLC3,SRXN1,STK35,TASP1,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 11790644 11790744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 11819465 11855257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 11819465 11855257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 11819477 11855243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 1182937 1183101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 11856875 11943353 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BTBD3 chr20 11900000 17800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BANF2,BFSP1,BTBD3,DSTN,ESF1,FLRT3,ISM1,ISM1-AS1,KIF16B,MACROD2,MACROD2-AS1,NDUFAF5,OTOR,PCSK2,RRBP1,SEL1L2,SNRPB2,SPTLC3,TASP1 chr20 11900000 17800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BANF2,BFSP1,BTBD3,DSTN,ESF1,FLRT3,ISM1,ISM1-AS1,KIF16B,MACROD2,MACROD2-AS1,NDUFAF5,OTOR,PCSK2,RRBP1,SEL1L2,SNRPB2,SPTLC3,TASP1 chr20 11900000 17800000 Microdeletion Kabuki syndrome FISH, Array CGH 21720541 BANF2,BFSP1,BTBD3,DSTN,ESF1,FLRT3,ISM1,ISM1-AS1,KIF16B,MACROD2,MACROD2-AS1,NDUFAF5,OTOR,PCSK2,RRBP1,SEL1L2,SNRPB2,SPTLC3,TASP1 chr20 11900000 21200000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 BANF2,BFSP1,BTBD3,C20orf26,C20orf72,C20orf78,C20orf79,CRNKL1,CSRP2BP,DSTN,DTD1,DZANK1,DZANK1-AS1,ESF1,FLRT3,INSM1,ISM1,ISM1-AS1,KIF16B,LINC00493,LINC00652,LOC100130264,LOC100270804,MACROD2,MACROD2-AS1,MIR3192,NAA20,NDUFAF5,OTOR,OVOL2,PCSK2,PET117,PLK1S1,POLR3F,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SEL1L2,SLC24A3,SNORD17,SNRPB2,SNX5,SPTLC3,TASP1,ZNF133 chr20 1194960 1237969 Gain and loss Pancreatic cancer SNP array 17952125 RAD21L1 chr20 11970338 11971362 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr20 12000654 12000747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 12012152 12222801 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr20 12012152 13539596 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ISM1,ISM1-AS1,SPTLC3,TASP1 chr20 12100000 17900000 Amplification Colorectal cancer GISTIC software 19359472 BANF2,BFSP1,DSTN,ESF1,FLRT3,ISM1,ISM1-AS1,KIF16B,MACROD2,MACROD2-AS1,NDUFAF5,OTOR,PCSK2,RRBP1,SEL1L2,SNRPB2,SPTLC3,TASP1 chr20 12100000 21300000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 BANF2,BFSP1,C20orf26,C20orf72,C20orf78,C20orf79,CRNKL1,CSRP2BP,DSTN,DTD1,DZANK1,DZANK1-AS1,ESF1,FLRT3,INSM1,ISM1,ISM1-AS1,KIF16B,LINC00493,LINC00652,LOC100130264,LOC100270804,MACROD2,MACROD2-AS1,MIR3192,NAA20,NDUFAF5,OTOR,OVOL2,PCSK2,PET117,PLK1S1,POLR3F,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SEL1L2,SLC24A3,SNORD17,SNRPB2,SNX5,SPTLC3,TASP1,XRN2,ZNF133 chr20 12100000 21300000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 BANF2,BFSP1,C20orf26,C20orf72,C20orf78,C20orf79,CRNKL1,CSRP2BP,DSTN,DTD1,DZANK1,DZANK1-AS1,ESF1,FLRT3,INSM1,ISM1,ISM1-AS1,KIF16B,LINC00493,LINC00652,LOC100130264,LOC100270804,MACROD2,MACROD2-AS1,MIR3192,NAA20,NDUFAF5,OTOR,OVOL2,PCSK2,PET117,PLK1S1,POLR3F,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SEL1L2,SLC24A3,SNORD17,SNRPB2,SNX5,SPTLC3,TASP1,XRN2,ZNF133 chr20 1 21025215 Loss Wilms tumour 250K Genotyping Arrays 21544195 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLRT3,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00493,LINC00652,LINC00654,LINC00658,LOC100130264,LOC100270804,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NDUFAF5,NOP56,NRSN2,NSFL1C,OTOR,OVOL2,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,STK35,TASP1,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF133,ZNF343 chr20 1 21338365 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLRT3,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00493,LINC00652,LINC00654,LINC00658,LOC100130264,LOC100270804,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NDUFAF5,NOP56,NRSN2,NSFL1C,OTOR,OVOL2,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,STK35,TASP1,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,XRN2,ZCCHC3,ZNF133,ZNF343 chr20 12140381 12140481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 12185316 12185416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1222001 1242500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAD21L1 chr20 12298068 12298168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1230814 1231282 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 RAD21L1 chr20 12308704 12309903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 12308728 12309647 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 12323894 13858933 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ESF1,ISM1,ISM1-AS1,NDUFAF5,SEL1L2,SPTLC3,TASP1 chr20 12358525 12358615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1238619 1257838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNPH chr20 1238619 1257838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNPH chr20 1238627 1257826 Gain and loss Pancreatic cancer SNP array 17952125 SNPH chr20 1242501 2619000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FKBP1A,FKBP1A-SDCBP2,LOC100289473,NSFL1C,PDYN,SDCBP2,SDCBP2-AS1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SNORD119,SNPH,SNRPB,STK35,TGM3,TGM6,TMC2,ZNF343 chr20 12436467 12436547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 1243876 1244959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 12449120 12449219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 12452580 12452680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1 24962206 Loss Wilms tumour 250K Genotyping Arrays 21544195 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NAPB,NDUFAF5,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,XRN2,ZCCHC3,ZNF133,ZNF343 chr20 12531043 12531337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 12553118 12553218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1 25600000 Copy number Endometrioid adenocarcinoma CGH 16974079 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NANP,NAPB,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF343 chr20 12568111 12573737 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr20 1 25700000 Copy number Breast cancer BAC array 16272173 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NANP,NAPB,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 25700000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NANP,NAPB,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 25700000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NANP,NAPB,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 12572679 12582137 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr20 12589936 12590063 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 12602767 12657062 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 12612891 12613021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 12613512 12651357 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 12635063 12635153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 1264935 1265330 Gain and loss Pancreatic cancer SNP array 17952125 SNPH chr20 12657983 13311383 Deletion Autism Array CGH 22102821 ISM1,ISM1-AS1,SPTLC3 chr20 1 27100000 Amplification Thyroid cancer FISH 19087340 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Copy number Cancer ICA method 16751803 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Deletion Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Gain colon cancer comparative genomic hybridization 17210682 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Gain Esophageal squamous carcinoma CGH 21637470 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Gain Ewing's sarcoma CGH(Reference) 21437220 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Gain Oral cancer array comparative genomic hybridization 19627613 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Gain or loss Endometrial cancer CGH 22040021 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Loss Breast cancer aCGH 21264507 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1154K arrays 21546498 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Loss Glioblastoma multiforme aCGH 21080181 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27100000 Loss Glioblastoma multiforme conventional CGH 21080181 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27500000 Amplification Colorectal cancer GISTIC software 19359472 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27500000 Amplification Esophageal squamous carcinoma CGH 18350619 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27500000 Gain Human rectal carcinomas oligonucleotide arrays 16397240 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27500000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27500000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 1 27500000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 12757182 12837747 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr20 1 27800000 Deletion Medulloblastoma SNP arrays 21979893 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 12807628 12807716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 128615948 128640621 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 128615948 128640621 Gain or loss Cancer - 20668451 NOT_FOUND chr20 128615948 128640621 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 128615948 128640621 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 128615948 128640621 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 128615948 128640621 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 12865389 12879811 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr20 12865832 12866832 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 12896967 12897067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 12937627 13095411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPTLC3 chr20 12937627 13095411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPTLC3 chr20 12937911 12978814 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 12967722 12982816 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr20 12970401 12982816 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr20 12974863 12982816 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr20 12975313 12982816 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr20 1297622 1321745 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 FKBP1A-SDCBP2,SDCBP2,SDCBP2-AS1 chr20 1297623 1321745 Gain and loss Pancreatic cancer SNP array 17952125 FKBP1A-SDCBP2,SDCBP2,SDCBP2-AS1 chr20 1297623 1321753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FKBP1A-SDCBP2,SDCBP2,SDCBP2-AS1 chr20 1297623 1321753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FKBP1A-SDCBP2,SDCBP2,SDCBP2-AS1 chr20 12977764 12982816 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr20 12993601 12993701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTLC3 chr20 13000904 13095407 Gain and loss Pancreatic cancer SNP array 17952125 SPTLC3 chr20 1300154 1300227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FKBP1A-SDCBP2,SDCBP2 chr20 13049884 13049978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTLC3 chr20 13106413 13106501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTLC3 chr20 13120619 13120719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTLC3 chr20 1314613 1314708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FKBP1A-SDCBP2,SDCBP2-AS1 chr20 13150418 13229297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ISM1,ISM1-AS1 chr20 13150418 13229297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISM1,ISM1-AS1 chr20 13198188 13198237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 13199232 13229298 Gain and loss Pancreatic cancer SNP array 17952125 ISM1,ISM1-AS1 chr20 13200000 48129895 Copy number Myeloproliferative neoplasm oligo Array CGH 19047681 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,APMAP,ARFGEF2,ARHGAP40,ASIP,ASXL1,BANF2,BCL2L1,BFSP1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,C20orf26,C20orf72,C20orf78,C20orf79,CBFA2T2,CD40,CD93,CDH22,CDK5RAP1,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CRNKL1,CSE1L,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,CTNNBL1,CTSA,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM182A,FAM182B,FAM83C,FAM83D,FER1L4,FITM2,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GGTLC1,GHRH,GINS1,GSS,GTSF1L,GZF1,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,JPH2,KCNB1,KCNK15,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00494,LINC00652,LINC00656,LINC00657,LOC100130264,LOC100131496,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC100505783,LOC149950,LOC284788,LOC284798,LOC284801,LOC339568,LOC388796,LOC79015,LPIN3,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3192,MIR3193,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MKRN7P,MLLT10P1,MMP24,MMP9,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NXT1,OCSTAMP,OTOR,OVOL2,PABPC1L,PAX1,PCIF1,PCSK2,PDRG1,PET117,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLK1S1,PLTP,POFUT1,POLR3F,PPP1R16B,PREX1,PROCR,PSIMCT-1,PTGIS,PTPRT,PXMP4,PYGB,R3HDML,RALGAPA2,RALGAPB,RALY,RBBP9,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RIN2,ROMO1,RPN2,RPRD1B,RRBP1,SAMHD1,SCAND1,SDC4,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC24A3,SLC2A10,SLC32A1,SLC35C2,SLPI,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNORD17,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SPAG4,SPATA25,SPINT3,SPINT4,SRC,SRSF6,SSTR4,STAU1,STK4,STK4-AS1,SULF2,SUN5,SYNDIG1,SYS1,SYS1-DBNDD2,TASP1,TGIF2,TGIF2-C20ORF24,TGM2,THBD,TM9SF4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UQCC,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YWHAB,ZHX3,ZMYND8,ZNF133,ZNF334,ZNF335,ZNF337,ZNF341,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 13209586 13209686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ISM1 chr20 13228457 14476192 LOH Normal High-resolution SNP genotyping 21211785 ESF1,FLRT3,ISM1,MACROD2,NDUFAF5,SEL1L2,TASP1 chr20 13230680 13230779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ISM1 chr20 1 325978 Deletion Cancer Affymetrix 250K Sty array 20164920 C20orf96,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,SOX12,ZCCHC3 chr20 13289 1507492 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ANGPT4,C20orf202,C20orf96,CSNK2A1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,FAM110A,FKBP1A,FKBP1A-SDCBP2,NRSN2,NSFL1C,PSMF1,RAD21L1,RBCK1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIRPB2,SLC52A3,SNPH,SOX12,SRXN1,TBC1D20,TCF15,TMEM74B,TRIB3,ZCCHC3 chr20 1328931 1331908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FKBP1A-SDCBP2,SDCBP2-AS1 chr20 13318036 13567583 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 TASP1 chr20 13318037 13567583 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TASP1 chr20 13318037 13567583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TASP1 chr20 13318037 13567583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TASP1 chr20 13318039 13567563 Gain and loss Pancreatic cancer SNP array 17952125 TASP1 chr20 13321324 13322321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 13321369 13322309 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 1335001 1340800 Deletion Glioma mate-paired sequence 20126413 FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1335658 1343793 Copy number Alcoholism Illumina Human Hap675W-Quad BeadChip 21790672 FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1335658 1343793 Copy number Normal - 21790672 FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1336884 1341659 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1337144 1338814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FKBP1A-SDCBP2,SDCBP2-AS1 chr20 1337176 1338798 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FKBP1A-SDCBP2,SDCBP2-AS1 chr20 13462603 13793726 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ESF1,NDUFAF5,TASP1 chr20 13510998 13511071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TASP1 chr20 13527866 13527966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TASP1 chr20 13529090 13529179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TASP1 chr20 13541317 16034064 Deletion Glioblastoma multiforme 244K oligo array 21138945 ESF1,FLRT3,MACROD2,MACROD2-AS1,NDUFAF5,SEL1L2,TASP1 chr20 13556429 15601309 LOH Normal High-resolution SNP genotyping 21211785 ESF1,FLRT3,MACROD2,MACROD2-AS1,NDUFAF5,SEL1L2,TASP1 chr20 1356755 1356850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FKBP1A,FKBP1A-SDCBP2,SDCBP2-AS1 chr20 13575821 13583341 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TASP1 chr20 13642969 13713532 Gain and loss Pancreatic cancer SNP array 17952125 ESF1 chr20 13642969 13713541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESF1 chr20 13642969 13713541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESF1 chr20 1367199 1367279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FKBP1A,FKBP1A-SDCBP2 chr20 1370807 1396417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FKBP1A,FKBP1A-SDCBP2 chr20 1370807 1396417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FKBP1A,FKBP1A-SDCBP2 chr20 1370811 1396417 Gain and loss Pancreatic cancer SNP array 17952125 FKBP1A,FKBP1A-SDCBP2 chr20 13713682 13745872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESF1 chr20 13713682 13745872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESF1 chr20 13713695 13747063 Gain and loss Pancreatic cancer SNP array 17952125 ESF1 chr20 13752995 13787665 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ESF1,NDUFAF5 chr20 1375403 1407962 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 13778052 13919262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDUFAF5,SEL1L2 chr20 13778052 13919262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFAF5,SEL1L2 chr20 13778052 13923863 Gain and loss Pancreatic cancer SNP array 17952125 NDUFAF5,SEL1L2 chr20 13832238 13832270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEL1L2 chr20 13847159 13847259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEL1L2 chr20 13861608 13893091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEL1L2 chr20 13863700 13871983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEL1L2 chr20 13874240 13891372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEL1L2 chr20 13875787 13884684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEL1L2 chr20 13876024 13885716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEL1L2 chr20 13876848 13911133 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEL1L2 chr20 13884410 13884503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEL1L2 chr20 13901962 13902051 Gain and loss Pancreatic cancer SNP array 17952125 SEL1L2 chr20 13901962 13902070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEL1L2 chr20 13918470 13918541 Gain and loss Pancreatic cancer SNP array 17952125 SEL1L2 chr20 13918470 13918541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEL1L2 chr20 13924145 15981841 Copy number brain infarct - 20663923 FLRT3,MACROD2,MACROD2-AS1,SEL1L2 chr20 13924145 15981841 Copy number Multiple sclerosis - 20663923 FLRT3,MACROD2,MACROD2-AS1,SEL1L2 chr20 13924145 15981841 Copy number Schizophrenia - 20663923 FLRT3,MACROD2,MACROD2-AS1,SEL1L2 chr20 13924319 13982313 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2,SEL1L2 chr20 13924365 15981842 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLRT3,MACROD2,MACROD2-AS1,SEL1L2 chr20 13924365 15981842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLRT3,MACROD2,MACROD2-AS1,SEL1L2 chr20 13924365 15981842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLRT3,MACROD2,MACROD2-AS1,SEL1L2 chr20 13932154 13932345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEL1L2 chr20 13935668 14137779 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 MACROD2,SEL1L2 chr20 13958489 18941114 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BANF2,BFSP1,C20orf72,C20orf78,C20orf79,CSRP2BP,DSTN,DTD1,DZANK1,DZANK1-AS1,FLRT3,KIF16B,LINC00493,LINC00652,LOC100270804,MACROD2,MACROD2-AS1,MIR3192,OTOR,OVOL2,PCSK2,PET117,POLR3F,RBBP9,RRBP1,SEC23B,SEL1L2,SNORD17,SNRPB2,SNX5,ZNF133 chr20 1 4000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ADAM33,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC4A11,SLC52A3,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 14014269 14014373 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14024068 15010799 Deletion Breast cancer FISH 17142309 FLRT3,MACROD2,MACROD2-AS1 chr20 14029914 14030008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 1403236 1420042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 1403236 1420042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 1403236 1420042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 14056046 14056982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 1412006 1412106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 14151698 14151915 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14151698 14151915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 14163601 15419215 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FLRT3,MACROD2,MACROD2-AS1 chr20 1416869 1416969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 14210829 15988895 Deletion Cancer Affymetrix 250K Sty array 20164920 FLRT3,MACROD2,MACROD2-AS1 chr20 14228432 15468344 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FLRT3,MACROD2,MACROD2-AS1 chr20 1424781 1540258 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NSFL1C,SIRPB2,SIRPD chr20 1424781 1540258 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NSFL1C,SIRPB2,SIRPD chr20 1424781 1627256 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 NSFL1C,SIRPB1,SIRPB2,SIRPD,SIRPG chr20 1424781 1627256 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NSFL1C,SIRPB1,SIRPB2,SIRPD,SIRPG chr20 14251634 14266270 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14252660 14266270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 14252660 14266270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 14280960 14281071 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14280968 14281069 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14280969 14281071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 14282793 14564783 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 FLRT3,MACROD2 chr20 14308476 14308576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLRT3,MACROD2 chr20 14309510 14309604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLRT3,MACROD2 chr20 14315944 14348623 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLRT3,MACROD2 chr20 14394970 14395070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 14409948 17186705 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1161K arrays 21546498 KIF16B,MACROD2,MACROD2-AS1,OTOR,SNRPB2 chr20 14414307 14414370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 14425294 14426955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 14475830 14476269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 14477069 14477381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 14500000 15536000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 MACROD2,MACROD2-AS1 chr20 14508087 15035659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2,MACROD2-AS1 chr20 14511919 14606870 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MACROD2 chr20 14540560 14765608 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1158K arrays 21546498 MACROD2 chr20 14545734 14948785 Loss Autism qPCR, Agilent 1M 20531469 MACROD2,MACROD2-AS1 chr20 14550535 14557360 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14564783 14846773 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 MACROD2 chr20 1457702 1457805 Gain and loss Pancreatic cancer SNP array 17952125 SIRPB2 chr20 1457702 1457805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRPB2 chr20 14588009 14798923 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MACROD2 chr20 14590069 14590104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 14596131 14596185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 14613491 14613619 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14623401 15028200 Copy number Normal ReadDepth: A Parallel R Package 21305028 MACROD2,MACROD2-AS1 chr20 1462897 1487489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIRPB2 chr20 1462897 1487489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRPB2 chr20 1462903 1487489 Gain and loss Pancreatic cancer SNP array 17952125 SIRPB2 chr20 14641774 14641874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 14652139 14727583 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 14653888 14856035 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 MACROD2 chr20 14662457 15008369 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 MACROD2,MACROD2-AS1 chr20 14676799 14738033 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 14677869 15384002 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MACROD2,MACROD2-AS1 chr20 14679344 14803457 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MACROD2 chr20 14683394 14813472 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MACROD2 chr20 14686209 14686702 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14686209 14686702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 14694326 15050827 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 MACROD2,MACROD2-AS1 chr20 14700001 14897555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACROD2,MACROD2-AS1 chr20 14704023 14743753 Loss Normal Birdsuite, version 1.5.2 22087296 MACROD2 chr20 14712447 14781762 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 MACROD2 chr20 14719280 14884551 Gain Normal 244K array 17666407 MACROD2,MACROD2-AS1 chr20 14719472 15046084 Deletion Normal Affymetrix 6.0 microarrays 20967226 MACROD2,MACROD2-AS1 chr20 14724746 14868046 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2,MACROD2-AS1 chr20 14724746 14870498 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2,MACROD2-AS1 chr20 14728552 14773546 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 14729684 14771472 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 MACROD2 chr20 14729684 14771893 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MACROD2 chr20 14729684 14773787 Loss Autism qPCR 20531469 MACROD2 chr20 14730000 41000000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AAR2,ABHD12,ACSS1,ACSS2,ACTL10,ACTR5,ADIG,AHCY,APMAP,ARHGAP40,ASIP,ASXL1,BANF2,BCL2L1,BFSP1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,C20orf26,C20orf72,C20orf78,C20orf79,CBFA2T2,CD93,CDK5RAP1,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EDEM2,EIF2S2,EIF6,EMILIN3,ENTPD6,EPB41L1,ERGIC3,FAM182A,FAM182B,FAM83C,FAM83D,FER1L4,FLJ33581,FOXA2,FOXS1,FRG1B,GDF5,GGT7,GGTLC1,GHRH,GINS1,GSS,GZF1,HCK,HM13,HM13-AS1,HMGB3P1,ID1,INSM1,ITCH,KIAA1755,KIF16B,KIF3B,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00652,LINC00656,LINC00657,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC149950,LOC284788,LOC284798,LOC284801,LOC339568,LOC388796,LPIN3,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MIR3192,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA6,NCOR1P1,NDRG3,NECAB3,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NXT1,OTOR,OVOL2,PAX1,PCSK2,PDRG1,PET117,PHF20,PIGU,PLAGL2,PLCG1,PLK1S1,POFUT1,POLR3F,PPP1R16B,PROCR,PSIMCT-1,PTPRT,PXMP4,PYGB,RALGAPA2,RALGAPB,RALY,RBBP9,RBL1,RBM12,RBM39,REM1,RIN2,ROMO1,RPN2,RPRD1B,RRBP1,SAMHD1,SCAND1,SEC23B,SLA2,SLC24A3,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD17,SNRPB2,SNTA1,SNX5,SOGA1,SPAG4,SRC,SSTR4,SUN5,SYNDIG1,TGIF2,TGIF2-C20ORF24,TGM2,THBD,TM9SF4,TOP1,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,VSX1,XKR7,XRN2,ZHX3,ZNF133,ZNF337,ZNF341 chr20 14749105 14955730 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MACROD2,MACROD2-AS1 chr20 14758348 14758448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 14778453 14888687 Loss Autism qPCR, Illumina1M 20531469 MACROD2,MACROD2-AS1 chr20 14802986 14816751 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 MACROD2 chr20 14818398 14879494 Loss Autism qPCR 20531469 MACROD2,MACROD2-AS1 chr20 14820114 14846841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACROD2 chr20 14820313 14879494 Loss Autism qPCR, Illumina1M 20531469 MACROD2,MACROD2-AS1 chr20 14830862 14880896 Loss Normal Birdsuite, version 1.5.2 22087296 MACROD2,MACROD2-AS1 chr20 14879882 15109568 Deletion Cancer ultra-high resolution array CGH 21272361 MACROD2,MACROD2-AS1 chr20 14928975 14929305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 1493028 1548689 Deletion or duplication Prostate cancer Affymetrix 6.0 arrays 21551127 SIRPB1,SIRPD chr20 1493029 1548689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIRPB1,SIRPD chr20 1493029 1548689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRPB1,SIRPD chr20 1493030 1548655 Gain and loss Pancreatic cancer SNP array 17952125 SIRPB1,SIRPD chr20 1493701 1499063 Loss Normal 244K array 17666407 NOT_FOUND chr20 14948785 15161293 Loss Autism qPCR 20531469 MACROD2 chr20 14950016 14950116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 14950199 14950305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 14950203 14950305 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14950205 14950305 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 1495092 1545768 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPB1,SIRPD chr20 14951498 14951599 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14951498 14951604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 14951498 14951608 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 14985065 15034862 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 MACROD2 chr20 1499345 1551832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPB1,SIRPD chr20 1499392 1547647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPB1,SIRPD chr20 14999717 15091806 Loss Autism qPCR 20531469 MACROD2 chr20 1 5000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5000000 Deletion Intellectual disability - 22045946 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5000000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5000000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5000000 Gain Hepatocellular carcinoma CGH 22174799 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5000000 Gain Ovarian cancer Affymetrix 20844748 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5000000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 15000514 15092469 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 MACROD2 chr20 1500338 1544222 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SIRPD chr20 15003548 15986492 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MACROD2 chr20 1500457 1533060 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPD chr20 1504366 1545019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPD chr20 15049464 45780658 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,APMAP,ARHGAP40,ASIP,ASXL1,BANF2,BCL2L1,BFSP1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,C20orf26,C20orf72,C20orf78,C20orf79,CBFA2T2,CD40,CD93,CDH22,CDK5RAP1,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,CTNNBL1,CTSA,DBNDD2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM182A,FAM182B,FAM83C,FAM83D,FER1L4,FITM2,FLJ33581,FOXA2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GGTLC1,GHRH,GINS1,GSS,GTSF1L,GZF1,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,INSM1,ITCH,JPH2,KCNK15,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00652,LINC00656,LINC00657,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC100505783,LOC149950,LOC284788,LOC284798,LOC284801,LOC339568,LOC388796,LOC79015,LPIN3,MACROD2,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3192,MIR3193,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MKRN7P,MLLT10P1,MMP24,MMP9,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA5,NCOA6,NCOR1P1,NDRG3,NECAB3,NEURL2,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NXT1,OCSTAMP,OTOR,OVOL2,PABPC1L,PAX1,PCIF1,PCSK2,PDRG1,PET117,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLK1S1,PLTP,POFUT1,POLR3F,PPP1R16B,PROCR,PSIMCT-1,PTPRT,PXMP4,PYGB,R3HDML,RALGAPA2,RALGAPB,RALY,RBBP9,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RIN2,ROMO1,RPN2,RPRD1B,RRBP1,SAMHD1,SCAND1,SDC4,SEC23B,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC24A3,SLC2A10,SLC32A1,SLC35C2,SLPI,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD17,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SPAG4,SPATA25,SPINT3,SPINT4,SRC,SRSF6,SSTR4,STK4,STK4-AS1,SUN5,SYNDIG1,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,THBD,TM9SF4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UQCC,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YWHAB,ZHX3,ZNF133,ZNF334,ZNF335,ZNF337,ZNF341,ZNF663,ZSWIM1,ZSWIM3 chr20 1504955 1509014 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 15051359 15243914 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 15051359 15264022 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 15051359 15289973 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 15051359 15289973 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 1505178 1530195 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1505190 1508787 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 1505190 1533060 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPD chr20 1505190 1533109 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPD chr20 15052624 15264022 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 15052624 15291280 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 15052624 15291280 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 15052624 15305780 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 1505274 1550920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPB1,SIRPD chr20 15055532 15089567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACROD2 chr20 1505612 1544144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPD chr20 1505640 1528036 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 SIRPD chr20 1505640 1528036 Total allelic loss Normal High-resolution SNP genotyping 21211785 SIRPD chr20 1505973 1544250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPD chr20 1506181 1547142 Copy number Alcoholism Illumina Human Hap670W-Quad BeadChip 21790672 SIRPB1,SIRPD chr20 1506181 1547142 Copy number Normal - 21790672 SIRPB1,SIRPD chr20 1506364 1546093 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 SIRPB1,SIRPD chr20 1506800 1544734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPD chr20 15068533 15249666 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 15068533 15249666 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 1507026 1524714 Deletion Medulloblastoma Illumina SNP arrays 21163964 SIRPD chr20 1507201 1543700 Deletion Glioma mate-paired sequence 20126413 SIRPD chr20 15079566 15249666 Copy number loss Normal High-resolution SNP genotyping 21211785 MACROD2 chr20 1507964 1532455 Loss or gain Normal 244K array 17666407 SIRPD chr20 1507990 2456537 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC100289473,PDYN,SIRPA,SIRPB1,SIRPD,SIRPG,SNORD119,SNRPB,STK35,TGM3,TGM6 chr20 1508059 1544747 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPD chr20 15087486 15087677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15087671 15087911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 1508775 1538245 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1508787 1508999 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 1508787 1541893 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPD chr20 1508802 1541893 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPD chr20 1508922 1545946 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPB1,SIRPD chr20 1508939 1538522 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1508987 1538245 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1508999 1509579 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 1508999 1545946 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPB1,SIRPD chr20 1509224 1542273 Deletion Normal - 21790672 SIRPD chr20 1509568 1530195 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1509568 1541837 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPD chr20 1509568 1541837 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1509568 1546094 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPB1,SIRPD chr20 1509579 1509580 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 1509580 1541893 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPD chr20 1509580 1541893 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SIRPD chr20 1509580 1541893 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SIRPD chr20 1509580 1545946 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPB1,SIRPD chr20 1509580 1546106 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPB1,SIRPD chr20 1509641 1541837 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1509641 1546094 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPB1,SIRPD chr20 1509655 1541837 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1 5100000 Amplification Colorectal cancer GISTIC software 19359472 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5100000 Gain Basal cell lymphoma Array CGH 16317097 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5100000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5100000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5100000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5100000 Loss Autism References 18414403 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1 5100000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 15106359 15106605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15106594 15106801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15158588 15158704 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 1516884 1534594 Copy number Lung cancer paired-end sequencing 18438408 SIRPD chr20 1520123 1541837 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 1520191 1541837 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 15209395 15209519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 15209430 15209513 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 15209430 15209513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 15224211 15251444 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 MACROD2 chr20 15229523 15229603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15233741 15233799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15234450 15249882 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 MACROD2 chr20 15249732 15251768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 15249756 15251851 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MACROD2 chr20 15249910 15251158 Loss or gain Normal 244K array 17666407 MACROD2 chr20 15250167 15272114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACROD2 chr20 15259370 15265978 Gain Normal Birdsuite, version 1.5.2 22087296 MACROD2 chr20 1526950 1541837 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIRPD chr20 15271770 15375903 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 MACROD2 chr20 15280753 15280853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15323944 15324031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15326156 16933499 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 KIF16B,MACROD2,OTOR,SNRPB2 chr20 1533109 1545946 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPB1,SIRPD chr20 15352059 15352283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 15359170 15383564 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 MACROD2 chr20 1538257 1541893 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPD chr20 1538257 1546106 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SIRPB1,SIRPD chr20 15383302 15383465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 15383450 15384671 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 1539178 1546789 Loss Normal 244K array 17666407 SIRPB1 chr20 1541893 1546336 Loss Normal Birdsuite, version 1.5.2 22087296 SIRPB1 chr20 15419616 15419716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15438760 29565478 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD12,ACSS1,APMAP,BANF2,BFSP1,C20orf26,C20orf72,C20orf78,C20orf79,CD93,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DSTN,DTD1,DZANK1,DZANK1-AS1,ENTPD6,FAM182A,FAM182B,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,INSM1,KIF16B,LINC00261,LINC00493,LINC00652,LINC00656,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC284788,LOC284798,LOC284801,MACROD2,MIR3192,MIR663A,NAA20,NANP,NAPB,NCOR1P1,NINL,NKX2-2,NKX2-4,NXT1,OTOR,OVOL2,PAX1,PCSK2,PET117,PLK1S1,POLR3F,PYGB,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SLC24A3,SNORD17,SNRPB2,SNX5,SSTR4,SYNDIG1,THBD,VSX1,XRN2,ZNF133,ZNF337 chr20 15451543 19601543 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BANF2,BFSP1,C20orf72,C20orf78,C20orf79,CSRP2BP,DSTN,DTD1,DZANK1,DZANK1-AS1,KIF16B,LINC00493,LINC00652,LOC100130264,LOC100270804,MACROD2,MIR3192,OTOR,OVOL2,PCSK2,PET117,POLR3F,RBBP9,RRBP1,SEC23B,SLC24A3,SNORD17,SNRPB2,SNX5,ZNF133 chr20 15451652 15451747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 1546032 1546222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIRPB1 chr20 1546229 1546397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIRPB1 chr20 15467417 15467517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 1546858 1557784 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 SIRPB1 chr20 15473444 15473544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15476262 15476339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15487025 15487113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 1 55000000 Gain Gastric cancer 5K BAC array CGH 17908304 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,AHCY,ANGPT4,ANKRD5,AP5S1,APMAP,ARFGEF2,ARHGAP40,ASIP,ASXL1,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BLCAP,BMP2,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf152,C20orf160,C20orf173,C20orf194,C20orf196,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTNNBL1,CTSA,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM210B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GINS1,GNRH2,GPCPD1,GSS,GTSF1L,GZF1,HAO1,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMP5,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LOC100130264,LOC100131496,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC149950,LOC284751,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR3193,MIR3194,MIR3616,MIR3646,MIR4755,MIR4756,MIR499A,MIR499B,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NOP56,NRSN2,NSFL1C,NXT1,OCSTAMP,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,POFUT1,POLR3F,PPP1R16B,PREX1,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMF1,PTGIS,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAD21L1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RRBP1,RSPO4,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC23A2,SLC24A3,SLC2A10,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPTLC3,SRC,SRSF6,SRXN1,SSTR4,STAU1,STK35,STK4,STK4-AS1,SULF2,SUMO1P1,SUN5,SYNDIG1,SYS1,SYS1-DBNDD2,TASP1,TBC1D20,TCF15,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YWHAB,ZCCHC3,ZFP64,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 15510466 15510508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 1552058 28159321 Copy number Lung cancer paired-end sequencing 18438408 ABHD12,ACSS1,ADAM33,ADRA1D,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM182A,FAM182B,FASTKD5,FERMT1,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PTPRA,PYGB,RALGAPA2,RASSF2,RBBP9,RIN2,RNF24,RRBP1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPG,SLC23A2,SLC24A3,SLC4A11,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNRPB,SNRPB2,SNX5,SPEF1,SPTLC3,SSTR4,STK35,SYNDIG1,TASP1,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZNF133,ZNF337,ZNF343 chr20 15540274 15542728 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MACROD2 chr20 15548139 15548464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MACROD2 chr20 15567963 15728758 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 MACROD2 chr20 15572156 15594946 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MACROD2 chr20 1557798 1586402 Gain and loss Pancreatic cancer SNP array 17952125 SIRPB1 chr20 1557798 1586425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIRPB1 chr20 1557798 1586425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRPB1 chr20 15578203 15578292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15586776 15586876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 155899 158523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 155899 158523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 155925 158527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 15604109 15648969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACROD2 chr20 15657506 15660363 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MACROD2 chr20 15657901 15662200 Deletion Glioma mate-paired sequence 20126413 MACROD2 chr20 15716092 15716192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15731124 15731224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15736601 15939000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MACROD2 chr20 15769718 15769818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 157771 456225 Gain Bladder cancer array-CGH 21909424 C20orf96,DEFB128,DEFB129,DEFB132,NRSN2,RBCK1,SOX12,TBC1D20,TRIB3,ZCCHC3 chr20 15810392 15810492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15855834 15890697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MACROD2 chr20 15912347 15912427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 15915710 15978521 Gain and loss Pancreatic cancer SNP array 17952125 MACROD2 chr20 15920729 15938784 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MACROD2 chr20 15922196 15938784 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MACROD2 chr20 15922473 15938784 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MACROD2 chr20 15939001 18620800 Copy number Normal ReadDepth: A Parallel R Package 21305028 BANF2,BFSP1,C20orf72,CSRP2BP,DSTN,DTD1,DZANK1,DZANK1-AS1,KIF16B,LINC00493,MACROD2,MIR3192,OTOR,OVOL2,PCSK2,PET117,POLR3F,RBBP9,RRBP1,SEC23B,SNORD17,SNRPB2,SNX5,ZNF133 chr20 1593929 1698075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRPB1,SIRPG chr20 15941914 15942014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MACROD2 chr20 1594524 1628522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPB1,SIRPG chr20 1595007 1595286 Gain and loss Pancreatic cancer SNP array 17952125 SIRPB1 chr20 1595007 1595286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRPB1 chr20 15988302 15988395 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 16027050 16033369 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MACROD2 chr20 16057571 16057671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16086026 19632379 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 BANF2,BFSP1,C20orf72,C20orf78,C20orf79,CSRP2BP,DSTN,DTD1,DZANK1,DZANK1-AS1,KIF16B,LINC00493,LINC00652,LOC100130264,LOC100270804,MIR3192,OTOR,OVOL2,PCSK2,PET117,POLR3F,RBBP9,RRBP1,SEC23B,SLC24A3,SNORD17,SNRPB2,SNX5,ZNF133 chr20 16099829 16609615 LOH Normal High-resolution SNP genotyping 21211785 KIF16B chr20 1610999 2747040 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EBF4,IDH3B,LOC100289473,MIR1292,NOP56,PDYN,SIRPA,SIRPG,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNRPB,STK35,TGM3,TGM6,TMC2,ZNF343 chr20 16138806 16138866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16148190 16148383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16148389 16148571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16152395 16153180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16167638 16201201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 16169819 16170361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 16186796 16187653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 16188275 16188998 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 16199496 16199932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 16200750 16502078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF16B chr20 16200750 16502078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF16B chr20 16200750 16502079 Gain and loss Pancreatic cancer SNP array 17952125 KIF16B chr20 16210051 16210100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16212936 16234846 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 16228450 16228645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16228659 16228798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16242157 16242236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1 62435964 Deletion Medulloblastoma SNP arrays 21979893 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 1 62435964 Deletion Normal - 20616218 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 1 62435964 Gain Ewing's sarcoma Karyotyping and CGH(Reference) 21437220 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 1 62435964 Gain Glioblastoma multiforme aCGH 21080181 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 1 62435964 Gain Glioblastoma multiforme conventional CGH 21080181 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 1 62435964 Gain Normal - 21541734 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 1 62435964 Loss Esophageal squamous carcinoma CGH 21637470 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 16272860 16272892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF16B chr20 1 63025520 Gain Gastric cancer 5K BAC array CGH 17908304 AAR2,ABHD12,ABHD16B,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf201,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00261,LINC00266-1,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR1914,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR663A,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPBWR2,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OPRL1,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCMTD2,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PRPF6,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SOX18,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCEA2,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UCKL1,UCKL1-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 16322155 16325056 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KIF16B chr20 1632768 1665764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SIRPG chr20 16338942 16339036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF16B chr20 16351 25296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16351 25296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16384034 16384134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF16B chr20 16432760 16432860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF16B chr20 16449699 16449998 Gain and loss Pancreatic cancer SNP array 17952125 KIF16B chr20 16451573 16452129 Gain and loss Pancreatic cancer SNP array 17952125 KIF16B chr20 16514441 16534775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF16B chr20 16514978 16515338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF16B chr20 16599286 16599387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16599287 16599387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 16599288 16599387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 16610745 16615685 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr20 16610745 16615772 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 16612760 16613049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16658628 16670037 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr20 16658629 16670037 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 16658629 16670037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16658629 16670037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 16658629 16670037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16677003 16680809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 16677003 16680809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16677003 16680809 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 16677003 16680809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16681097 16725728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNRPB2 chr20 16692986 16696302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 16712478 16712578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRPB2 chr20 16743092 16743162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16795360 16795450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16830594 16830784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16856640 16856689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 16903001 16904500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 16903828 16903890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 16911476 16911678 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 16911477 16911678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 16913816 16914297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 16936741 16936826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16958055 16958150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 16994019 16994083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 17009918 17010020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 17037582 17082051 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 17051434 17051777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 17051435 17051773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 17116155 17116261 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 17116779 17116989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 17137705 17137866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 17137705 17137867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 17154752 17413223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCSK2 chr20 17154752 17413223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCSK2 chr20 17155631 17413223 Gain and loss Pancreatic cancer SNP array 17952125 PCSK2 chr20 17155961 17156061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 17330134 17363469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCSK2 chr20 17343534 17343634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCSK2 chr20 17367052 17367352 Loss Osteosarcoma References 21215367 PCSK2 chr20 17367251 17368251 Loss Osteosarcoma References 21215367 PCSK2 chr20 17389458 17398084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCSK2 chr20 17407730 17408076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCSK2 chr20 17408 12242875 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,C20orf96,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 17408 14974075 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,C20orf96,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLRT3,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ISM1,ISM1-AS1,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NDUFAF5,NOP56,NRSN2,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SPTLC3,SRXN1,STK35,TASP1,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 17408 23216064 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ESF1,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLRT3,FOXA2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MKKS,MRPS26,NAA20,NDUFAF5,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,XRN2,ZCCHC3,ZNF133,ZNF343 chr20 17408 28119554 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD12,ACSS1,ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,APMAP,ATRN,AVP,BANF2,BFSP1,BMP2,BTBD3,C20orf141,C20orf194,C20orf196,C20orf202,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CD93,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DSTN,DTD1,DZANK1,DZANK1-AS1,EBF4,ENTPD6,ESF1,FAM110A,FAM182A,FAM182B,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,GFRA4,GGTLC1,GINS1,GNRH2,GPCPD1,GZF1,HAO1,HSPA12B,IDH3B,INSM1,ISM1,ISM1-AS1,ITPA,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100289473,LOC284788,LOC284798,LOC284801,LOC339593,LOC643406,LOC728228,LRRN4,MACROD2,MACROD2-AS1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR663A,MKKS,MRPS26,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDYN,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,PYGB,RAD21L1,RALGAPA2,RASSF2,RBBP9,RBCK1,RIN2,RNF24,RRBP1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC24A3,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNX5,SOX12,SPEF1,SPTLC3,SRXN1,SSTR4,STK35,SYNDIG1,TASP1,TBC1D20,TCF15,TGM3,TGM6,THBD,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,VSX1,XRN2,ZCCHC3,ZNF133,ZNF337,ZNF343 chr20 17408 567392 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C20orf96,CSNK2A1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,NRSN2,RBCK1,SOX12,TBC1D20,TRIB3,ZCCHC3 chr20 17408 62376958 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 17412002 17413002 Loss Osteosarcoma References 21215367 PCSK2 chr20 17417615 17418086 Gain and loss Pancreatic cancer SNP array 17952125 PCSK2 chr20 17417615 17418086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCSK2 chr20 17419392 17419492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCSK2 chr20 17422550 17487605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BFSP1,PCSK2 chr20 17422550 17487605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BFSP1,PCSK2 chr20 17422551 17459974 Gain and loss Pancreatic cancer SNP array 17952125 PCSK2 chr20 17445488 17445952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCSK2 chr20 17498599 17536652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BFSP1 chr20 17498599 17536652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BFSP1 chr20 17498760 17536638 Gain and loss Pancreatic cancer SNP array 17952125 BFSP1 chr20 17504819 17505155 Gain and loss Pancreatic cancer SNP array 17952125 BFSP1 chr20 17504851 17505155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BFSP1 chr20 17504914 17505154 Gain and loss Pancreatic cancer SNP array 17952125 BFSP1 chr20 17515817 17762190 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BANF2,BFSP1,DSTN,RRBP1 chr20 17523306 17555900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BFSP1,DSTN chr20 17527900 17528452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BFSP1 chr20 17539501 17577000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BFSP1,DSTN chr20 17542323 17610928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSTN,RRBP1 chr20 17542323 17610928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSTN,RRBP1 chr20 17542745 17610721 Gain and loss Pancreatic cancer SNP array 17952125 DSTN,RRBP1 chr20 17552950 17553050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSTN chr20 17572676 17572730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DSTN chr20 17577001 17896500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BANF2,DSTN,RRBP1 chr20 17628593 17664517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RRBP1 chr20 17628593 17664517 Gain and loss Pancreatic cancer SNP array 17952125 RRBP1 chr20 17628593 17664517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRBP1 chr20 17648293 17648393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRBP1 chr20 17662428 17662472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRBP1 chr20 17662774 17662819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRBP1 chr20 17756698 17941461 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 SNX5 chr20 17758396 17759396 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 17771227 17771372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 17772870 17773355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 17775267 17776590 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 17780433 17780523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 17780435 17780515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 17795120 17810863 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 17796776 17825901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 17799356 17813847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 17799693 17837380 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 17800000 21200000 Copy number Normal - 20680643 C20orf26,C20orf72,C20orf78,C20orf79,CRNKL1,CSRP2BP,DTD1,DZANK1,DZANK1-AS1,INSM1,LINC00493,LINC00652,LOC100130264,LOC100270804,MIR3192,NAA20,OVOL2,PET117,PLK1S1,POLR3F,RALGAPA2,RBBP9,RIN2,SEC23B,SLC24A3,SNORD17,SNX5,ZNF133 chr20 17800000 21200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C20orf26,C20orf72,C20orf78,C20orf79,CRNKL1,CSRP2BP,DTD1,DZANK1,DZANK1-AS1,INSM1,LINC00493,LINC00652,LOC100130264,LOC100270804,MIR3192,NAA20,OVOL2,PET117,PLK1S1,POLR3F,RALGAPA2,RBBP9,RIN2,SEC23B,SLC24A3,SNORD17,SNX5,ZNF133 chr20 17800000 21200000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 C20orf26,C20orf72,C20orf78,C20orf79,CRNKL1,CSRP2BP,DTD1,DZANK1,DZANK1-AS1,INSM1,LINC00493,LINC00652,LOC100130264,LOC100270804,MIR3192,NAA20,OVOL2,PET117,PLK1S1,POLR3F,RALGAPA2,RBBP9,RIN2,SEC23B,SLC24A3,SNORD17,SNX5,ZNF133 chr20 17800000 25700000 Amplification Esophageal squamous carcinoma CGH 21637470 ABHD12,ACSS1,APMAP,C20orf26,C20orf72,C20orf78,C20orf79,CD93,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DTD1,DZANK1,DZANK1-AS1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,INSM1,LINC00261,LINC00493,LINC00652,LINC00656,LOC100130264,LOC100270679,LOC100270804,LOC284788,LOC284798,MIR3192,NAA20,NANP,NAPB,NINL,NKX2-2,NKX2-4,NXT1,OVOL2,PAX1,PET117,PLK1S1,POLR3F,PYGB,RALGAPA2,RBBP9,RIN2,SEC23B,SLC24A3,SNORD17,SNX5,SSTR4,SYNDIG1,THBD,VSX1,XRN2,ZNF133,ZNF337 chr20 17800000 27100000 Gain Cancer array-based techniques 21183584 ABHD12,ACSS1,APMAP,C20orf26,C20orf72,C20orf78,C20orf79,CD93,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DTD1,DZANK1,DZANK1-AS1,ENTPD6,FAM182A,FAM182B,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,INSM1,LINC00261,LINC00493,LINC00652,LINC00656,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC284788,LOC284798,LOC284801,MIR3192,MIR663A,NAA20,NANP,NAPB,NCOR1P1,NINL,NKX2-2,NKX2-4,NXT1,OVOL2,PAX1,PET117,PLK1S1,POLR3F,PYGB,RALGAPA2,RBBP9,RIN2,SEC23B,SLC24A3,SNORD17,SNX5,SSTR4,SYNDIG1,THBD,VSX1,XRN2,ZNF133,ZNF337 chr20 17800000 27100000 Loss Myxofibrosarcoma Array CGH 16751306 ABHD12,ACSS1,APMAP,C20orf26,C20orf72,C20orf78,C20orf79,CD93,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DTD1,DZANK1,DZANK1-AS1,ENTPD6,FAM182A,FAM182B,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,INSM1,LINC00261,LINC00493,LINC00652,LINC00656,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC284788,LOC284798,LOC284801,MIR3192,MIR663A,NAA20,NANP,NAPB,NCOR1P1,NINL,NKX2-2,NKX2-4,NXT1,OVOL2,PAX1,PET117,PLK1S1,POLR3F,PYGB,RALGAPA2,RBBP9,RIN2,SEC23B,SLC24A3,SNORD17,SNX5,SSTR4,SYNDIG1,THBD,VSX1,XRN2,ZNF133,ZNF337 chr20 17804010 17804110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 178177 754878 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C20orf96,CSNK2A1,DEFB129,DEFB132,NRSN2,RBCK1,SCRT2,SLC52A3,SOX12,SRXN1,TBC1D20,TCF15,TRIB3,ZCCHC3 chr20 17821982 17822031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 17832406 17832505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 17832424 17832501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 17848498 17848598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1785670 1818094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 17870221 18440898 Gain Bladder cancer array-CGH 21909424 C20orf72,CSRP2BP,DZANK1,DZANK1-AS1,OVOL2,PET117,SNORD17,SNX5,ZNF133 chr20 17870241 17897490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 17870241 17897490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 17870244 17897154 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 17870244 17897490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 17891353 17891589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 17896501 17898000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 17897716 17919765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 17897716 17919765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 17897726 17919759 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 17897762 17919762 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 17940600 17940928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX5 chr20 17946087 17987693 Gain and loss Pancreatic cancer SNP array 17952125 C20orf72,SNX5 chr20 17949561 17949622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 17952796 17986521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf72 chr20 17952796 17986521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf72 chr20 1798344 1815809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 1798898 1798977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 180000 47243681 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADRA1D,AHCY,ANGPT4,ANKRD5,AP5S1,APMAP,ARHGAP40,ASIP,ASXL1,ATRN,AVP,BANF2,BCL2L1,BFSP1,BLCAP,BMP2,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf152,C20orf160,C20orf173,C20orf194,C20orf196,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CBFA2T2,CD40,CD93,CDC25B,CDH22,CDK5RAP1,CDS2,CENPB,CEP250,CHD6,CHGB,CHMP4B,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,CTNNBL1,CTSA,DBNDD2,DDRGK1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB129,DEFB132,DHX35,DLGAP4,DNMT3B,DNTTIP1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GINS1,GNRH2,GPCPD1,GSS,GTSF1L,GZF1,HAO1,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNK15,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMP5,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00494,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LOC100130264,LOC100131496,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC149950,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR3193,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MRPS26,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NOP56,NRSN2,NSFL1C,NXT1,OCSTAMP,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PAX1,PCED1A,PCIF1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,POFUT1,POLR3F,PPP1R16B,PREX1,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMF1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAD21L1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF24,ROMO1,RPN2,RPRD1B,RRBP1,RSPO4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC23A2,SLC24A3,SLC2A10,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLPI,SMOX,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA25,SPEF1,SPINT3,SPINT4,SPTLC3,SRC,SRSF6,SRXN1,SSTR4,STK35,STK4,STK4-AS1,SULF2,SUN5,SYNDIG1,SYS1,SYS1-DBNDD2,TASP1,TBC1D20,TCF15,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,THBD,TM9SF4,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UBOX5,UBOX5-AS1,UQCC,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YWHAB,ZCCHC3,ZHX3,ZMYND8,ZNF133,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZSWIM1,ZSWIM3 chr20 180000 62284676 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZCCHC3,ZFP64,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 18018760 18019359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OVOL2 chr20 1801881 1806509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 1802053 1831914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 18024214 18024276 Gain and loss Pancreatic cancer SNP array 17952125 OVOL2 chr20 18042111 18042223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18042113 18042223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18064576 18225105 Duplication small cell lung cancer array-CGH 20016488 CSRP2BP,PET117 chr20 180658 209713 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DEFB129 chr20 18066526 18117016 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 18066526 18117016 Gain or loss Cancer - 20668451 NOT_FOUND chr20 18066526 18117016 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 18066526 18117016 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 18066526 18117016 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 18066526 18117016 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 18066527 18117016 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18066527 18117031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18066527 18117031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18148757 18149156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSRP2BP chr20 18162650 18162750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSRP2BP chr20 18187198 18187495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18187200 18187495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18189049 18712990 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1160K arrays 21546498 DTD1,DZANK1,DZANK1-AS1,LINC00493,MIR3192,POLR3F,RBBP9,SEC23B,ZNF133 chr20 18194334 18194523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18194336 18194523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18217121 18245638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18217121 18245640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18217121 18245640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18223787 18224095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18223787 18224095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18223857 18224095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 1822812 1868540 Deletion Prostate cancer - 21147910 NOT_FOUND chr20 1822812 1868540 Indels Normal Affymetrix 6.0 array 21223598 NOT_FOUND chr20 1822813 1868543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 1822813 1868543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 1823425 1868532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 1823425 1868540 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 18257653 18257743 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18257653 18257743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18275542 18275636 Gain and loss Pancreatic cancer SNP array 17952125 ZNF133 chr20 18275542 18275636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF133 chr20 18292105 18835915 LOH Normal High-resolution SNP genotyping 21211785 C20orf78,C20orf79,DTD1,DZANK1,DZANK1-AS1,LINC00493,LINC00652,LOC100270804,MIR3192,POLR3F,RBBP9,SEC23B,ZNF133 chr20 18309416 18310125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18312011 18395829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DZANK1,DZANK1-AS1 chr20 18312011 18395829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DZANK1,DZANK1-AS1 chr20 18312015 18396531 Gain and loss Pancreatic cancer SNP array 17952125 DZANK1,DZANK1-AS1 chr20 18315321 18345677 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 18324881 18324969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 18348804 18350098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18362486 18362573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 18362486 18362573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18396033 18413282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DZANK1 chr20 18396033 18413282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DZANK1 chr20 18396033 18413284 Gain and loss Pancreatic cancer SNP array 17952125 DZANK1 chr20 18413909 18414696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DZANK1 chr20 18415190 18425887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DZANK1 chr20 18415190 18425887 Gain and loss Pancreatic cancer SNP array 17952125 DZANK1 chr20 18415190 18425887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DZANK1 chr20 184228 41356169 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AAR2,ABHD12,ACSS1,ACSS2,ACTL10,ACTR5,ADAM33,ADIG,ADRA1D,AHCY,ANGPT4,ANKRD5,AP5S1,APMAP,ARHGAP40,ASIP,ASXL1,ATRN,AVP,BANF2,BCL2L1,BFSP1,BLCAP,BMP2,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf152,C20orf160,C20orf173,C20orf194,C20orf196,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf72,C20orf78,C20orf79,C20orf94,C20orf96,CBFA2T2,CD93,CDC25B,CDK5RAP1,CDS2,CENPB,CEP250,CHD6,CHGB,CHMP4B,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,CTNNBL1,DDRGK1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB129,DEFB132,DHX35,DLGAP4,DNMT3B,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EIF2S2,EIF6,EMILIN3,ENTPD6,EPB41L1,ERGIC3,ESF1,FAM110A,FAM182A,FAM182B,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FKBP1A,FKBP1A-SDCBP2,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GINS1,GNRH2,GPCPD1,GSS,GZF1,HAO1,HCK,HM13,HM13-AS1,HMGB3P1,HSPA12B,ID1,IDH3B,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,KIAA1755,KIF16B,KIF3B,LAMP5,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC149950,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC643406,LOC728228,LPIN3,LRRN4,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MIR3192,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MKKS,MLLT10P1,MMP24,MRPS26,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NOP56,NRSN2,NSFL1C,NXT1,OTOR,OVOL2,OXT,PAK7,PANK2,PAX1,PCED1A,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PHF20,PIGU,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,POFUT1,POLR3F,PPP1R16B,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMF1,PTPRA,PTPRT,PXMP4,PYGB,RAD21L1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM39,REM1,RIN2,RNF24,ROMO1,RPN2,RPRD1B,RRBP1,RSPO4,SAMHD1,SCAND1,SCRT2,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC23A2,SLC24A3,SLC32A1,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX5,SOGA1,SOX12,SPAG4,SPEF1,SPTLC3,SRC,SRXN1,SSTR4,STK35,SUN5,SYNDIG1,TASP1,TBC1D20,TCF15,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,THBD,TM9SF4,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TOP1,TP53INP2,TPX2,TRIB3,TRMT6,TRPC4AP,TSPY26P,TTI1,TTLL9,UBOX5,UBOX5-AS1,UQCC,VPS16,VSTM2L,VSX1,XKR7,XRN2,ZCCHC3,ZHX3,ZNF133,ZNF337,ZNF341,ZNF343 chr20 18433241 18433710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DZANK1 chr20 18433244 18433710 Gain and loss Pancreatic cancer SNP array 17952125 DZANK1 chr20 18436188 18490059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DZANK1,MIR3192,POLR3F,RBBP9,SEC23B chr20 18436188 18490059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DZANK1,MIR3192,POLR3F,RBBP9,SEC23B chr20 18436216 18489765 Gain and loss Pancreatic cancer SNP array 17952125 DZANK1,MIR3192,POLR3F,RBBP9,SEC23B chr20 18516556 18692561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTD1,LINC00493,SEC23B chr20 18516556 18692561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTD1,LINC00493,SEC23B chr20 18516576 18692557 Gain and loss Pancreatic cancer SNP array 17952125 DTD1,LINC00493,SEC23B chr20 18520974 18521263 Gain and loss Pancreatic cancer SNP array 17952125 SEC23B chr20 18520974 18521263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC23B chr20 18537037 18537093 Gain and loss Pancreatic cancer SNP array 17952125 SEC23B chr20 18537037 18537093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC23B chr20 18537737 18833682 Gain small cell lung cancer Real-time Quantitative PCR 17426248 C20orf78,C20orf79,DTD1,LINC00493,LINC00652,LOC100270804,SEC23B chr20 18539691 18539811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC23B chr20 18539692 18539810 Gain and loss Pancreatic cancer SNP array 17952125 SEC23B chr20 18539692 18539810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC23B chr20 18571471 18571981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTD1 chr20 18580 1781123 Loss or gain Non-syndromic sensorineural hearing loss array CGH 18496225 ANGPT4,C20orf202,C20orf96,CSNK2A1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,FAM110A,FKBP1A,FKBP1A-SDCBP2,LOC100289473,NRSN2,NSFL1C,PSMF1,RAD21L1,RBCK1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC52A3,SNPH,SOX12,SRXN1,TBC1D20,TCF15,TMEM74B,TRIB3,ZCCHC3 chr20 18580 62363633 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 18609 5869816 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf96,CDC25B,CDS2,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HSPA12B,IDH3B,ITPA,LINC00654,LINC00658,LOC100289473,LOC643406,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 1861717 1861852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 18618751 18618783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTD1 chr20 18620801 19911100 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf78,C20orf79,DTD1,LINC00652,LOC100130264,LOC100270804,RIN2,SLC24A3 chr20 18623480 62342703 Gain Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf26,C20orf43,C20orf78,C20orf79,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CRNKL1,CSE1L,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DTD1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FLJ33581,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,GZF1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,INSM1,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LINC00028,LINC00029,LINC00261,LINC00489,LINC00494,LINC00651,LINC00652,LINC00656,LINC00657,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NPEPL1,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PAX1,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAE1,RALGAPA2,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC24A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,SSTR4,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,THBD,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 186377 189735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 186377 189735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 186377 189735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 18654481 19934807 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C20orf78,C20orf79,DTD1,LINC00652,LOC100130264,LOC100270804,RIN2,SLC24A3 chr20 18683390 18683489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTD1 chr20 18711068 18712334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTD1 chr20 18715196 18715801 Gain and loss Pancreatic cancer SNP array 17952125 DTD1 chr20 18715900 18716000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTD1 chr20 18720403 18720692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTD1 chr20 18720403 18720692 Gain and loss Pancreatic cancer SNP array 17952125 DTD1 chr20 18720403 18720692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTD1 chr20 18738383 18758808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTD1 chr20 18738420 18758695 Gain and loss Pancreatic cancer SNP array 17952125 DTD1 chr20 18742370 18743033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTD1 chr20 18742370 18743033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTD1 chr20 18742370 18831180 Gain and loss Pancreatic cancer SNP array 17952125 C20orf78,C20orf79,DTD1,LINC00652,LOC100270804 chr20 18797734 18798270 Gain and loss Pancreatic cancer SNP array 17952125 C20orf78 chr20 18926140 18926867 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr20 19006549 19006649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 19009417 19009729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 19052342 19052642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 19057012 19090705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 1907401 1922702 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SIRPA chr20 1907403 1922702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIRPA chr20 1907403 1922702 Gain and loss Pancreatic cancer SNP array 17952125 SIRPA chr20 1907403 1922702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIRPA chr20 19110213 19110313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 19118062 19118377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 19141289 19651541 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LOC100130264,SLC24A3 chr20 19141487 19651540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130264,SLC24A3 chr20 19141487 19651540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130264,SLC24A3 chr20 19141487 19651543 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130264,SLC24A3 chr20 19149524 19149624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 191501 368000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf96,DEFB129,DEFB132,NRSN2,SOX12,TRIB3,ZCCHC3 chr20 19163642 19168911 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr20 19170946 19213240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC24A3 chr20 19170946 19213240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC24A3 chr20 19194509 19213050 Gain and loss Pancreatic cancer SNP array 17952125 SLC24A3 chr20 19194609 19194709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A3 chr20 192092 231877 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DEFB129 chr20 1922027 1922102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 1923953 1924020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 19269940 19270016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC24A3 chr20 19330701 19341421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC24A3 chr20 19368901 20291554 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C20orf26,CRNKL1,NAA20,RIN2,SLC24A3 chr20 19386379 19386479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A3 chr20 19416346 19416439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A3 chr20 19419300 19419341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A3 chr20 19423890 19423990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A3 chr20 19460426 19460526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A3 chr20 19518741 19518831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC24A3 chr20 19519841 19553812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC24A3 chr20 19581934 19605067 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC24A3 chr20 19612139 19645922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC24A3 chr20 19646783 20483833 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C20orf26,CRNKL1,INSM1,NAA20,RALGAPA2,RIN2,SLC24A3 chr20 19686296 19686679 Gain and loss Pancreatic cancer SNP array 17952125 SLC24A3 chr20 19688937 19689026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC24A3 chr20 19752090 19752587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 19752090 19752587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 19771392 19771477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 19815314 19931100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIN2 chr20 19815314 19931100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIN2 chr20 19823138 19856945 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 19842418 19842492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 19863742 19931100 Copy number Lung cancer - 20668451 RIN2 chr20 19863742 19931100 Gain or loss Breast cancer - 20668451 RIN2 chr20 19863742 19931100 Gain or loss Cancer - 20668451 RIN2 chr20 19863742 19931100 Gain or loss Lung cancer - 20668451 RIN2 chr20 19863742 19931100 Gain or loss Ovarian cancer - 20668451 RIN2 chr20 19863742 19931100 Gain or loss Pancreas cancer - 20668451 RIN2 chr20 19863742 19931100 Gain or loss Prostate cancer - 20668451 RIN2 chr20 19863743 19931100 Gain and loss Pancreatic cancer SNP array 17952125 RIN2 chr20 19893440 19939210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIN2 chr20 19898831 19898931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIN2 chr20 19911101 21024300 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf26,CRNKL1,INSM1,NAA20,RALGAPA2,RIN2 chr20 19945937 19962269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIN2 chr20 19945937 19962269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIN2 chr20 19945937 19962550 Gain and loss Pancreatic cancer SNP array 17952125 RIN2 chr20 19946543 19962269 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 RIN2 chr20 199504 219390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEFB129 chr20 199504 219390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEFB129 chr20 199524 219390 Gain and loss Pancreatic cancer SNP array 17952125 DEFB129 chr20 19960660 19961101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RIN2 chr20 19963012 19984690 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RIN2 chr20 19963012 19984690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIN2 chr20 19963012 19984690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIN2 chr20 19971973 19973997 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RIN2 chr20 19979859 20012166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAA20,RIN2 chr20 19981122 19984690 Gain and loss Pancreatic cancer SNP array 17952125 RIN2 chr20 19981196 20289346 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C20orf26,CRNKL1,NAA20,RIN2 chr20 19981196 20289346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf26,CRNKL1,NAA20,RIN2 chr20 19981196 20289346 Gain and loss Pancreatic cancer SNP array 17952125 C20orf26,CRNKL1,NAA20,RIN2 chr20 19981196 20289346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf26,CRNKL1,NAA20,RIN2 chr20 19992095 20036803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C20orf26,CRNKL1,NAA20 chr20 20004082 20272341 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 C20orf26,CRNKL1,NAA20 chr20 20004619 20005068 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NAA20 chr20 20004619 20005068 Gain and loss Pancreatic cancer SNP array 17952125 NAA20 chr20 20023402 20023502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRNKL1 chr20 2004201 2004468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 20051399 20059983 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C20orf26 chr20 20095730 20095953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf26 chr20 20095949 20096003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf26 chr20 20111329 20763938 LOH Normal High-resolution SNP genotyping 21211785 C20orf26,INSM1,RALGAPA2 chr20 20154700 20154850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf26 chr20 20181947 20182449 Gain and loss Pancreatic cancer SNP array 17952125 C20orf26 chr20 20181947 20182482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf26 chr20 20192139 20783295 LOH Normal High-resolution SNP genotyping 21211785 C20orf26,INSM1,RALGAPA2 chr20 2019935 2052744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 20275008 20308985 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 C20orf26 chr20 20290372 20950202 LOH Normal High-resolution SNP genotyping 21211785 C20orf26,INSM1,RALGAPA2 chr20 20296765 20299590 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C20orf26 chr20 20296765 20299590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf26 chr20 20296765 20299590 Gain and loss Pancreatic cancer SNP array 17952125 C20orf26 chr20 20296765 20299590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf26 chr20 2030727 2105679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK35 chr20 2030727 2105679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK35 chr20 20309744 20772552 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 C20orf26,INSM1,RALGAPA2 chr20 2031519 2077196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 20320856 20641126 Gain and loss Pancreatic cancer SNP array 17952125 C20orf26,INSM1,RALGAPA2 chr20 20321411 20641271 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C20orf26,INSM1,RALGAPA2 chr20 20321411 20641271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf26,INSM1,RALGAPA2 chr20 20321411 20641271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf26,INSM1,RALGAPA2 chr20 203239 203844 Loss Normal 244K array 17666407 NOT_FOUND chr20 20387343 20394222 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALGAPA2 chr20 20387343 20394222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA2 chr20 20400933 20401003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGAPA2 chr20 20413991 20447553 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RALGAPA2 chr20 20427154 20427231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGAPA2 chr20 20443646 20443741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGAPA2 chr20 20444274 20444374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGAPA2 chr20 2049498 2049558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 20496496 20496577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGAPA2 chr20 205041 205213 Gain Normal 244K array 17666407 NOT_FOUND chr20 20515692 20515753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGAPA2 chr20 20605065 20605135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RALGAPA2 chr20 20615726 20616726 Loss Osteosarcoma References 21215367 RALGAPA2 chr20 20667076 20667374 Gain and loss Pancreatic cancer SNP array 17952125 RALGAPA2 chr20 20667076 20667374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA2 chr20 20667078 20667374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALGAPA2 chr20 20693607 20728204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 20709015 21313558 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLK1S1,XRN2 chr20 20709015 21814547 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 2071650 2072650 Loss Chordoma References 21215367 NOT_FOUND chr20 2071667 2072667 Gain Chordoma References 21215367 NOT_FOUND chr20 20752886 21444708 LOH Normal High-resolution SNP genotyping 21211785 NKX2-4,PLK1S1,XRN2 chr20 20757761 21767729 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 20775532 20817688 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr20 20778012 20778112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 20782764 20783285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2078560 2423469 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 STK35,TGM3,TGM6 chr20 2081797 3588124 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ATRN,AVP,C20orf141,C20orf194,CPXM1,DDRGK1,EBF4,FASTKD5,GNRH2,IDH3B,ITPA,MIR1292,MRPS26,NOP56,OXT,PCED1A,PROSAPIP1,PTPRA,SLC4A11,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNRPB,STK35,TGM3,TGM6,TMC2,TMEM239,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 20843791 20843891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 20885682 20885782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 20898525 22142284 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 20900776 22193231 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 2090553 2094254 Gain Normal 244K array 17666407 STK35 chr20 20907527 22031940 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 20909686 21717069 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 20945818 21947673 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 20946546 22263677 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 20950709 20951056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 20994232 21892932 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 20998715 20998842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21005301 21832679 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 21011891 21171846 Copy number gain Normal High-resolution SNP genotyping 21211785 PLK1S1 chr20 21014147 21047805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 21024301 22289300 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100270679,NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 21030001 21032000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 2104298 2135401 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STK35 chr20 21043364 21043838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21054646 21175256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLK1S1 chr20 21054646 21175256 Gain and loss Pancreatic cancer SNP array 17952125 PLK1S1 chr20 21054646 21175256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLK1S1 chr20 21055390 21058605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 21067592 21067713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 21067594 21067715 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 21067597 21067715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21070074 21071965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 21094846 21095236 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 21094846 21095236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21095062 21095132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21170075 21170163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLK1S1 chr20 21171846 21855754 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 21171846 21924301 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 21171846 21934046 LOH Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 21171846 22189071 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 21194492 21195103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLK1S1 chr20 21199092 21199742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLK1S1 chr20 21200000 22300000 Copy number Normal - 20680643 LOC100270679,NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 21200000 22300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 LOC100270679,NKX2-2,NKX2-4,PAX1,PLK1S1,XRN2 chr20 21200000 25700000 Gain Breast cancer Array CGH 16608533 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC100270679,LOC284788,LOC284798,NANP,NAPB,NINL,NKX2-2,NKX2-4,NXT1,PAX1,PLK1S1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,XRN2,ZNF337 chr20 21225802 21225902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLK1S1 chr20 21230617 21230702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21231501 21236500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 21231922 21318463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XRN2 chr20 21231922 21318463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XRN2 chr20 21231942 21318463 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 XRN2 chr20 21231952 21318463 Gain and loss Pancreatic cancer SNP array 17952125 XRN2 chr20 21232401 21238700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 21234091 21236772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 21234267 21236529 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 2126521 2126611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK35 chr20 21306682 21306782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XRN2 chr20 21313118 21313218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XRN2 chr20 21324005 21326047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XRN2 chr20 21324501 21326500 Copy number Normal ReadDepth: A Parallel R Package 21305028 XRN2 chr20 21324549 21326037 Gain and loss Pancreatic cancer SNP array 17952125 XRN2 chr20 21326387 22083964 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,NKX2-4,PAX1,XRN2 chr20 21338365 21569372 Copy number gain Normal High-resolution SNP genotyping 21211785 NKX2-2,NKX2-4,XRN2 chr20 21342001 21343500 Copy number Normal ReadDepth: A Parallel R Package 21305028 XRN2 chr20 21353378 21353679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XRN2 chr20 21353445 21353679 Gain and loss Pancreatic cancer SNP array 17952125 XRN2 chr20 21353445 21353679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XRN2 chr20 2135658 2135758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21413220 21413312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 21413226 21413316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 21416882 21417263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21430033 21430606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21432607 22536601 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,LOC284788,NKX2-2,PAX1 chr20 21433001 21452000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 21439646 21439946 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 21439669 21442664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21439669 21442664 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 21439669 21442664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21444708 22189071 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,PAX1 chr20 21462968 22038412 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,PAX1 chr20 21469602 22189071 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,PAX1 chr20 21469602 22189718 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,PAX1 chr20 21487180 22195818 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,PAX1 chr20 21487180 22198731 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,NKX2-2,PAX1 chr20 21501601 22278808 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,PAX1 chr20 21502549 21502615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21502779 22241405 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,PAX1 chr20 21521670 22235665 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,PAX1 chr20 21521670 22241405 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,PAX1 chr20 21521670 22247148 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,PAX1 chr20 21526923 21527023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21529725 21562181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 21542489 22102295 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,PAX1 chr20 21564709 21564809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21569372 21831922 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PAX1 chr20 21578500 21613691 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 21588095 21731368 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PAX1 chr20 21592433 22320674 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,PAX1 chr20 2159964 2160049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21631001 21638500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 21634297 21644620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21634297 21644620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21634633 21643441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 21635863 22255584 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,PAX1 chr20 21670941 21671715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21683881 21684280 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 21683908 21683988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 21732876 23212045 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CD93,FOXA2,LINC00261,LINC00656,LOC100270679,LOC284788,SSTR4,THBD chr20 21733008 21746599 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 21747809 21748109 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 21747854 21748854 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 21749674 21782084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 21797903 21798189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 21806539 21836630 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 21813150 21836630 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 21813150 21839217 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 21823728 21839217 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 21855754 21862055 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 21855754 21866674 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 21861910 22536601 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,LOC284788 chr20 21862055 22374576 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679 chr20 21862055 22536601 LOH Normal High-resolution SNP genotyping 21211785 LOC100270679,LOC284788 chr20 2189049 2189641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 21892932 21897750 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 21962001 21962151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 21987635 21987750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 22014991 23311989 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD93,FOXA2,LINC00261,LINC00656,LOC100270679,LOC284788,SSTR4,THBD chr20 22027500 22027600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 22033696 22033996 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 22037295 22593837 LOH Normal High-resolution SNP genotyping 21211785 FOXA2,LINC00261,LOC100270679,LOC284788 chr20 22045666 22045720 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100270679 chr20 22051688 22051767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100270679 chr20 22082025 22082113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 22093371 26036562 Gain Bladder cancer array-CGH 21909424 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FAM182A,FAM182B,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC100134868,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 2212959 2213046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 22140447 26145930 Amplification Esophageal cancer affymetrix genechip human mapping 260K Nsp arrays 21851588 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FAM182A,FAM182B,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC100134868,LOC284788,LOC284798,NANP,NAPB,NCOR1P1,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22189718 22278808 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 22200747 22200924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22234070 22266816 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 2224649 2269722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2224649 2269722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2224675 2269725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22256508 22256559 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 22289301 28184200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FAM182A,FAM182B,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC100134868,LOC284788,LOC284798,LOC284801,MIR663A,NANP,NAPB,NCOR1P1,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22297096 22316323 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr20 22300000 25600000 Gain Breast cancer Microarray-based CGH 17133270 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1 chr20 22300000 25600000 Loss Thrombophilia references 17576883 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1 chr20 22300000 25700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22300000 25700000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22300000 25700000 Duplication Mental retardation \N 21062444 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22300000 25700000 Gain Barrett's adenocarcinoma FISH 18663352 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22300000 25700000 Gain Hepatocellular carcinoma CGH 22174799 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22300000 25700000 Loss Barrett's adenocarcinoma FISH 18663352 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC284788,LOC284798,NANP,NAPB,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22300000 32100000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABHD12,ACSS1,APMAP,ASXL1,BCL2L1,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf160,C20orf203,CBFA2T2,CD93,CDK5RAP1,COMMD7,COX4I2,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,ENTPD6,FAM182A,FAM182B,FLJ33581,FOXA2,FOXS1,FRG1B,GGTLC1,GINS1,GZF1,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LINC00261,LINC00656,LOC100134868,LOC149950,LOC284788,LOC284798,LOC284801,MAPRE1,MIR3193,MIR663A,MLLT10P1,MYLK2,NANP,NAPB,NCOR1P1,NINL,NXT1,PDRG1,PLAGL2,POFUT1,PSIMCT-1,PYGB,REM1,SNTA1,SSTR4,SUN5,SYNDIG1,THBD,TM9SF4,TPX2,TSPY26P,TTLL9,VSX1,XKR7,ZNF337 chr20 22300000 63025520 Gain Basal cell lymphoma Array CGH 16317097 AAR2,ABHD12,ABHD16B,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FLJ33581,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,GZF1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00261,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00656,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100134868,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR663A,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,NXT1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,SSTR4,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,THBD,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 22300000 63025520 Gain Diffuse large b-cell lymphoma Array CGH 16317097 AAR2,ABHD12,ABHD16B,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FLJ33581,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,GZF1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00261,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00656,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100134868,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR663A,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,NXT1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,SSTR4,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,THBD,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 22303503 22303603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 22328989 22349281 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 22328989 22349281 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22328989 22349281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22336930 22337003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 22364769 22434655 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC284788 chr20 22364769 28266754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,APMAP,CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FAM182A,FAM182B,FLJ33581,FOXA2,GGTLC1,GINS1,GZF1,LINC00261,LINC00656,LOC100134868,LOC284788,LOC284798,LOC284801,MIR663A,NANP,NAPB,NCOR1P1,NINL,NXT1,PYGB,SSTR4,SYNDIG1,THBD,VSX1,ZNF337 chr20 22430098 22455587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 22493721 22507194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22494275 22515942 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr20 22496501 22505500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 22505501 22516000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 22509293 22509377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 22509822 22514102 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 22509823 22514102 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 22509823 22514102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22509823 22514102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22509823 22514102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 225737 228965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 225737 228965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22603323 22603650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 226204 228961 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22661737 22662715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22662058 22662776 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22706502 22706627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22706508 22706621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22706538 22706627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22721462 22766362 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 22738160 22773314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 22814308 22814706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22823236 22965188 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 22831012 23372589 LOH Normal High-resolution SNP genotyping 21211785 CD93,GZF1,LINC00656,NAPB,NXT1,SSTR4,THBD chr20 2288357 2288457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGM3 chr20 22889171 22894700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22898197 22898229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 22954327 22988948 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr20 22964056 22965314 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 22964056 22965314 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 22964056 22965314 Gain or loss Cancer - 20668451 NOT_FOUND chr20 22964056 22965314 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 22964056 22965314 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 22964056 22965314 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 22964056 22965314 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 22964057 22965314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22964121 22965287 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22965188 24299323 LOH Normal High-resolution SNP genotyping 21211785 CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST8,CST9,CST9L,CSTL1,FLJ33581,GGTLC1,GZF1,LINC00656,NAPB,NXT1,SSTR4,THBD chr20 22974269 22978301 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 22974270 22978378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22974270 22978378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 22975769 24007796 LOH Normal High-resolution SNP genotyping 21211785 CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST8,CST9,CST9L,CSTL1,GGTLC1,GZF1,LINC00656,NAPB,NXT1,SSTR4,THBD chr20 22976414 22978141 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 22976501 22980000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 22977404 23121240 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD93,LINC00656,SSTR4,THBD chr20 22980001 23675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CD93,CST11,CST13P,CST3,CST4,CST8,CST9,CST9L,CSTL1,GZF1,LINC00656,NAPB,NXT1,SSTR4,THBD chr20 23007992 23014977 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 23007993 23014977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23007993 23014977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23007995 23014977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23028901 23029201 Gain Osteosarcoma References 21215367 THBD chr20 23029205 23030205 Gain Osteosarcoma References 21215367 THBD chr20 23041773 24122028 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD93,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST8,CST9,CST9L,CSTL1,GGTLC1,GZF1,LINC00656,NAPB,NXT1 chr20 23051193 23051632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 23054599 23054911 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23060753 23060848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD93 chr20 23064427 23064527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD93 chr20 2307904 2308608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TGM3 chr20 23089493 23089601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23089494 23089608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23089494 23089608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2309554 2361399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGM3 chr20 2309554 2361399 Gain and loss Pancreatic cancer SNP array 17952125 TGM3 chr20 2309554 2361399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM3 chr20 23097739 23887277 Gain small cell lung cancer Real-time Quantitative PCR 17426248 CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST8,CST9,CST9L,CSTL1,GZF1,LINC00656,NAPB,NXT1 chr20 23101791 23101880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23149602 23149634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23158767 23158799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23169078 23169133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 23204850 23204950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23211990 23212090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23245445 23245542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23267225 23295553 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr20 23270400 23599589 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CST11,CST13P,CST8,CST9,CST9L,CSTL1,GZF1,NAPB,NXT1 chr20 23279373 23283408 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 23279373 23283408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23279373 23283408 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23279373 23283408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23290819 23301682 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23290819 23309310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23290819 23309310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23295971 23296971 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr20 23295971 23296971 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 23303164 23350083 Gain and loss Pancreatic cancer SNP array 17952125 GZF1,NXT1 chr20 23303166 23350081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GZF1,NXT1 chr20 23303166 23350081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GZF1,NXT1 chr20 23309532 23309649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23309533 23309649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23309533 23309649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23355651 23356667 Gain and loss Pancreatic cancer SNP array 17952125 NAPB chr20 23368322 23373567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAPB chr20 23368322 23373567 Gain and loss Pancreatic cancer SNP array 17952125 NAPB chr20 23368322 23373567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAPB chr20 23379041 23381482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAPB chr20 23379041 23381482 Gain and loss Pancreatic cancer SNP array 17952125 NAPB chr20 23379041 23381482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAPB chr20 23386221 23386322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAPB chr20 23386222 23386322 Gain and loss Pancreatic cancer SNP array 17952125 NAPB chr20 23386223 23386322 Gain and loss Pancreatic cancer SNP array 17952125 NAPB chr20 23404337 23408557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23404337 23408557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23409834 25967918 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD12,ACSS1,APMAP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,ENTPD6,FAM182B,FLJ33581,GGTLC1,GINS1,LOC284798,NANP,NINL,PYGB,SYNDIG1,VSX1,ZNF337 chr20 23419766 23424655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSTL1 chr20 23419766 23424655 Gain and loss Pancreatic cancer SNP array 17952125 CSTL1 chr20 23419766 23424655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSTL1 chr20 23423221 23551527 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CST11,CST13P,CST8,CST9L,CSTL1 chr20 23435071 23435164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23447783 23474450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CST8 chr20 23447783 23474450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CST8 chr20 23476401 23479289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CST8 chr20 23476401 23479289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CST8 chr20 23493375 23497386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23493375 23497386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23493375 23497386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23504215 23537213 Gain Normal Birdsuite, version 1.5.2 22087296 CST13P chr20 23512279 23515147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CST13P chr20 23531051 23534513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23531051 23534513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23531051 23534513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2355186 2355286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23556534 23567110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23556534 23567110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23562294 23566574 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23564408 23564508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23564855 23564948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23582616 23582711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23614269 23617677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CST3 chr20 23614269 23617677 Gain and loss Pancreatic cancer SNP array 17952125 CST3 chr20 23614269 23617677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CST3 chr20 23615725 23615793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CST3 chr20 23622281 23622326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23639957 23640043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23653081 23725052 Gain Normal 244K array 17666407 CST4 chr20 23675501 23677000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 23676190 23679574 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 23676191 23679574 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23676191 23679905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23676191 23679905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23677001 23907000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CST1,CST2,CST5 chr20 23703298 23703362 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 2371513 2371731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGM6 chr20 2371718 2371953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGM6 chr20 2371726 2371857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGM6 chr20 23752081 23796943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 23752406 23755368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23752406 23755368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23752406 23755368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23804572 23808373 Gain and loss Pancreatic cancer SNP array 17952125 CST2 chr20 23804572 23808380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CST2 chr20 23804572 23808380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CST2 chr20 23812636 24997111 LOH Normal High-resolution SNP genotyping 21211785 ACSS1,APMAP,CST5,CST7,FLJ33581,GGTLC1,SYNDIG1 chr20 2381656 2381763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM6 chr20 2381658 2381763 Gain and loss Pancreatic cancer SNP array 17952125 TGM6 chr20 23836348 23836421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23847408 23850806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23862024 24537790 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ33581,GGTLC1,SYNDIG1 chr20 2390280 2399499 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TGM6 chr20 2390281 2399499 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 TGM6 chr20 2390281 2399499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGM6 chr20 2390281 2399499 Gain and loss Pancreatic cancer SNP array 17952125 TGM6 chr20 2390281 2399499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM6 chr20 23907001 23923500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 23909222 23909371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23909226 23909326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23910791 23910891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23913687 23917416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23913687 23917416 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23913687 23917416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23918447 23922767 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 23918447 23928918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 23921274 24963292 LOH Normal High-resolution SNP genotyping 21211785 APMAP,CST7,FLJ33581,GGTLC1,SYNDIG1 chr20 23923501 24063500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GGTLC1 chr20 23936489 23936589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 23963931 23997842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GGTLC1 chr20 23996069 23996147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24063501 24070000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 24065352 24065502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24078538 24088927 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 24082855 24587916 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FLJ33581,SYNDIG1 chr20 2410463 2453165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNORD119,SNRPB,TGM6 chr20 2410463 2453165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNORD119,SNRPB,TGM6 chr20 2410469 2453165 Gain and loss Pancreatic cancer SNP array 17952125 SNORD119,SNRPB,TGM6 chr20 24129355 24129450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24165891 24166034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 24165891 24166036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 24165891 24166037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 2417531 2446060 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNORD119,SNRPB chr20 24184464 24218532 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLJ33581 chr20 242043 243146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 24217597 24217829 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr20 24230110 24237055 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr20 24238421 24238521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24279658 24312794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 24286600 24286694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24293368 24293468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24306403 26031086 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,APMAP,CST7,ENTPD6,FAM182B,GINS1,LOC100134868,LOC284798,NANP,NINL,PYGB,SYNDIG1,VSX1,ZNF337 chr20 24307031 24307131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24336667 24337540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 24366791 24372704 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 24374027 24374950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 24397835 24595167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNDIG1 chr20 24397835 24595167 Gain and loss Pancreatic cancer SNP array 17952125 SYNDIG1 chr20 24397835 24595167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNDIG1 chr20 24398501 24400000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 24400001 24585000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYNDIG1 chr20 24404824 24405637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 24416943 24417013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24429162 24429251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24522041 24522141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNDIG1 chr20 24525834 24525925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNDIG1 chr20 24532838 25623602 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD12,ACSS1,APMAP,CST7,ENTPD6,GINS1,LOC284798,NANP,NINL,PYGB,SYNDIG1,VSX1 chr20 24546411 24546511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNDIG1 chr20 24571082 24571137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNDIG1 chr20 24574794 24574887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNDIG1 chr20 24585001 24796500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYNDIG1 chr20 24608935 24609018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNDIG1 chr20 2462976 2463089 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF343 chr20 24634897 24634997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNDIG1 chr20 2465121 2479967 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF343 chr20 2465253 2570430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMC2,ZNF343 chr20 2465253 2570430 Gain and loss Pancreatic cancer SNP array 17952125 TMC2,ZNF343 chr20 2465253 2570430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2,ZNF343 chr20 24664250 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,APMAP,CST7,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,VSX1,ZNF337 chr20 24674960 24675058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24728423 25680524 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ABHD12,ACSS1,APMAP,CST7,ENTPD6,GINS1,LOC284798,NANP,NINL,PYGB,VSX1,ZNF337 chr20 2473326 2486534 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF343 chr20 24753132 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,APMAP,CST7,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,VSX1,ZNF337 chr20 2475510 4133944 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADAM33,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf27,CDC25B,CENPB,CPXM1,DDRGK1,EBF4,FASTKD5,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,OXT,PANK2,PCED1A,PROSAPIP1,PTPRA,RNF24,SIGLEC1,SLC4A11,SMOX,SNORA51,SNORD110,SNORD56,SNORD57,SNORD86,SPEF1,TMC2,TMEM239,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 24777928 24778028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24796501 24804000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 24804001 24878000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 24821684 24821746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 24841932 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,APMAP,CST7,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,VSX1,ZNF337 chr20 24842183 24842372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 24851698 24852415 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 24859395 24859757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 24860159 24860247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 24877866 24888562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 24877866 24888562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 24877866 24888562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 24878001 24882000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 24882001 24970500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APMAP,CST7 chr20 24891580 24921425 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 24891581 24921425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 24891581 24921425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 24891581 24921425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 24902807 24902916 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 24902807 24902916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 24934874 24987616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSS1,APMAP,CST7 chr20 24934874 24987616 Gain and loss Pancreatic cancer SNP array 17952125 ACSS1,APMAP,CST7 chr20 24934874 24987616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS1,APMAP,CST7 chr20 24946165 24946197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APMAP chr20 24955476 24955550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APMAP chr20 24970501 24980000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APMAP chr20 24971550 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,APMAP,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,VSX1,ZNF337 chr20 24975204 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,VSX1,ZNF337 chr20 24975715 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,VSX1,ZNF337 chr20 24980001 25147000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSS1,LOC284798,VSX1 chr20 24997526 24997589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACSS1 chr20 25000120 25010996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSS1 chr20 25000120 25010996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS1 chr20 25004100 25010767 Gain and loss Pancreatic cancer SNP array 17952125 ACSS1 chr20 25013313 25013413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACSS1 chr20 25027741 25028217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS1 chr20 25033270 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,VSX1,ZNF337 chr20 25039907 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,VSX1,ZNF337 chr20 25045488 25045588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 25089803 25090697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 25108137 25138540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC284798 chr20 25124250 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284798,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,ZNF337 chr20 25124329 25155365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284798 chr20 25124329 25155365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284798 chr20 25124339 25155360 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 LOC284798 chr20 25124372 25155360 Gain and loss Pancreatic cancer SNP array 17952125 LOC284798 chr20 25133291 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,ZNF337 chr20 25143263 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,ZNF337 chr20 25143334 25143432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 25143334 25143434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 25143335 25143429 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 25147001 25155500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 25148794 27100000 LOH Normal High-resolution SNP genotyping 21211785 ABHD12,ENTPD6,FAM182A,FAM182B,GINS1,LOC100134868,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,ZNF337 chr20 25155501 25203000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENTPD6 chr20 25176706 25226648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTPD6 chr20 25176706 25226648 Gain and loss Pancreatic cancer SNP array 17952125 ENTPD6 chr20 25176706 25226648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTPD6 chr20 25203001 25231500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENTPD6,PYGB chr20 25214388 25214469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 25221761 25221853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 25223380 25319454 Gain and loss Pancreatic cancer SNP array 17952125 ABHD12,PYGB chr20 25223380 25319477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD12,PYGB chr20 25223380 25319477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD12,PYGB chr20 25223958 25224258 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 25231501 25249000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PYGB chr20 25268115 28767627 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD12,FAM182A,FAM182B,GINS1,LOC100134868,LOC284801,MIR663A,NANP,NCOR1P1,NINL,PYGB,ZNF337 chr20 25296911 25297402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD12 chr20 25296911 25297432 Gain and loss Pancreatic cancer SNP array 17952125 ABHD12 chr20 25336323 25377191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD12 chr20 25336323 25377191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD12 chr20 25336363 25377191 Gain and loss Pancreatic cancer SNP array 17952125 ABHD12 chr20 25381334 25514105 Gain and loss Pancreatic cancer SNP array 17952125 GINS1,NINL chr20 25381341 25514153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GINS1,NINL chr20 25381341 25514153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GINS1,NINL chr20 25386501 25432500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GINS1 chr20 25387126 25387190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 254239 258865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf96 chr20 254239 258865 Gain and loss Pancreatic cancer SNP array 17952125 C20orf96 chr20 254239 258865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf96 chr20 25438779 25438879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NINL chr20 25470665 25480427 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NINL chr20 25490040 25490140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NINL chr20 25514961 25514999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NINL chr20 25539775 25539854 Gain and loss Pancreatic cancer SNP array 17952125 NINL chr20 25539775 25539854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NINL chr20 25541575 25552621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NINL chr20 25541575 25552621 Gain and loss Pancreatic cancer SNP array 17952125 NINL chr20 25541575 25552621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NINL chr20 25541853 25575433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NINL chr20 25583232 25583517 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 25583232 25583517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 25598493 25599022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NANP chr20 25600000 27500000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 FAM182A,FAM182B,LOC100134868,LOC284801,MIR663A,NANP,NCOR1P1,ZNF337 chr20 25602851 25625469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NANP chr20 25602851 25625469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NANP chr20 25602856 25625469 Gain and loss Pancreatic cancer SNP array 17952125 NANP chr20 25649992 26015566 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM182B,LOC100134868,ZNF337 chr20 25649992 26015566 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM182B,LOC100134868,ZNF337 chr20 2565645 2565722 Gain Normal 244K array 17666407 TMC2 chr20 25662900 25663729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF337 chr20 25663268 29620848 Copy number Normal Quantitative Real-Time PCR 17666543 FAM182A,FAM182B,FRG1B,LOC100134868,LOC284801,MIR663A,NCOR1P1,ZNF337 chr20 25685249 25686038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 25692102 25796786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM182B chr20 25692102 25796786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM182B chr20 25702169 25715387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 2575002 2575208 Loss Normal 244K array 17666407 TMC2 chr20 2575662 2576248 Gain Normal 244K array 17666407 TMC2 chr20 25764644 25765692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM182B chr20 25786501 25792000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 2578819 2579193 Gain Normal 244K array 17666407 TMC2 chr20 25792001 25799500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 25795016 27100000 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1155K arrays 21546498 FAM182A,LOC100134868,LOC284801,MIR663A,NCOR1P1 chr20 2581178 2586976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 2581178 2586976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 2581254 2587035 Gain and loss Pancreatic cancer SNP array 17952125 TMC2 chr20 2581254 2587039 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 TMC2 chr20 2581423 2581488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 25817609 26015566 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100134868 chr20 25817609 26072099 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM182A,LOC100134868 chr20 2582858 2582932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 2583713 2583844 Gain and loss Pancreatic cancer SNP array 17952125 TMC2 chr20 2583713 2583844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 2584743 2584828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 2585270 2585340 Gain and loss Pancreatic cancer SNP array 17952125 TMC2 chr20 2585270 2585340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 2585585 2585656 Gain and loss Pancreatic cancer SNP array 17952125 TMC2 chr20 2585585 2585656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 25859125 25999139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100134868 chr20 2587043 2592843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 2587043 2592843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMC2 chr20 2587043 2592853 Gain and loss Pancreatic cancer SNP array 17952125 TMC2 chr20 25904001 26012000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100134868 chr20 25938471 25949568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 25983249 26015552 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 LOC100134868 chr20 25983291 26015193 Gain and loss Pancreatic cancer SNP array 17952125 LOC100134868 chr20 25983291 26015553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100134868 chr20 25983291 26015553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100134868 chr20 25988728 25989001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 26006100 26072099 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM182A chr20 26006100 26181848 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM182A,LOC284801,NCOR1P1 chr20 26006100 26267569 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM182A,LOC284801,MIR663A,NCOR1P1 chr20 26012001 26020000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 26023784 26096870 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 FAM182A,NCOR1P1 chr20 26027435 26028249 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr20 26032052 26042677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM182A chr20 26032052 26042677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM182A chr20 26032107 26042622 Gain and loss Pancreatic cancer SNP array 17952125 FAM182A chr20 26040752 26042315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM182A chr20 26050844 26055284 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 FAM182A chr20 26067001 26098500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM182A,NCOR1P1 chr20 26097006 26097313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 26130045 26168912 Gain Normal 244K array 17666407 LOC284801 chr20 26136501 26138500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 26136822 26136914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 26145481 26169490 Gain Normal TaqMan assays 20972442 LOC284801 chr20 26147501 26162000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 26162300 26168363 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC284801 chr20 26168380 26172977 Loss Normal 244K array 17666407 LOC284801 chr20 2619001 2637000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR1292,NOP56,SNORA51,SNORD110,SNORD86,TMC2 chr20 26206501 26229500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 2621524 2688754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EBF4,IDH3B,MIR1292,NOP56,SNORA51,SNORD110,SNORD56,SNORD57,SNORD86,TMC2 chr20 2621640 2688747 Gain and loss Pancreatic cancer SNP array 17952125 EBF4,IDH3B,MIR1292,NOP56,SNORA51,SNORD110,SNORD56,SNORD57,SNORD86,TMC2 chr20 26227758 26248774 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr20 26227758 26266279 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr20 26232501 26249500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 26247677 26257255 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr20 26249501 27150250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 2625350 2626190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 2625351 2625781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2634392 2634475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOP56 chr20 26661583 26778839 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 26661583 26778839 Gain or loss Cancer - 20668451 NOT_FOUND chr20 26661583 26778839 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 26661583 26778839 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 26661583 26778839 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 26661583 26778839 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 2677001 2689500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EBF4 chr20 2688065 2688115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EBF4 chr20 2689501 2724000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EBF4 chr20 2692438 2884204 Gain small cell lung cancer Real-time Quantitative PCR 17426248 C20orf141,CPXM1,EBF4,PCED1A,PTPRA,TMEM239,VPS16 chr20 2709260 2709687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EBF4 chr20 27100000 28266754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 27100000 28266754 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 27100000 28400000 Amplification Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 NOT_FOUND chr20 27100000 37100000 Copy number Breast cancer - 21806811 AAR2,ACSS2,ACTL10,AHCY,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GHRH,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIAA1755,KIF3B,LBP,LINC00028,LINC00489,LINC00657,LOC100287792,LOC149950,LOC388796,MANBAL,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PROCR,PSIMCT-1,PXMP4,RALY,RBL1,RBM12,RBM39,REM1,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,XKR7,ZNF341 chr20 27100000 37100000 Duplication Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 AAR2,ACSS2,ACTL10,AHCY,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GHRH,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIAA1755,KIF3B,LBP,LINC00028,LINC00489,LINC00657,LOC100287792,LOC149950,LOC388796,MANBAL,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PROCR,PSIMCT-1,PXMP4,RALY,RBL1,RBM12,RBM39,REM1,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,XKR7,ZNF341 chr20 27100000 37100000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 AAR2,ACSS2,ACTL10,AHCY,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GHRH,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIAA1755,KIF3B,LBP,LINC00028,LINC00489,LINC00657,LOC100287792,LOC149950,LOC388796,MANBAL,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PROCR,PSIMCT-1,PXMP4,RALY,RBL1,RBM12,RBM39,REM1,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,XKR7,ZNF341 chr20 27100000 62435964 Amplification Melanoma Multiplex Ligation-Dependent Probe Amplification 21693616 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Amplification Thyroid cancer FISH 19087340 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain Astrocytoma CGH 17387387 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain colon cancer comparative genomic hybridization 17210682 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain Esophageal squamous carcinoma CGH 21637470 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain Ewing's sarcoma CGH(Reference) 21437220 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain Glioblastoma multiforme aCGH 21080181 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain Glioblastoma multiforme CGH 17387387 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain Glioblastoma multiforme CGH 19960244 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain Glioblastoma multiforme conventional CGH 21080181 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain Hepatocellular carcinoma CGH 22174799 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Gain or loss Endometrial cancer CGH 22040021 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 In Colorectal cancer CGH 20709793 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Increases Breast cancer Patient-specific Data Fusion 22028636 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Loss Breast cancer aCGH 21264507 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27100000 62435964 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27150251 28121000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 2722715 2729266 Gain and loss Pancreatic cancer SNP array 17952125 EBF4 chr20 2722715 2729282 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 EBF4 chr20 2722715 2729282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EBF4 chr20 2722715 2729282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EBF4 chr20 2724001 2727000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EBF4 chr20 2727001 2788500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CPXM1,EBF4 chr20 2743657 2744475 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 2743657 2748930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2743657 2748930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2744948 2748930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 2749309 2780400 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPXM1 chr20 27500000 41700000 Amplification Soft tissue tumor 32k BAC microarrays 16732325 AAR2,ACSS2,ACTL10,ACTR5,ADIG,AHCY,ARHGAP40,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EMILIN3,EPB41L1,ERGIC3,FAM83C,FAM83D,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GHRH,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIAA1755,KIF3B,LBP,LINC00028,LINC00489,LINC00657,LOC100287792,LOC149950,LOC339568,LOC388796,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PDRG1,PHF20,PIGU,PLAGL2,PLCG1,POFUT1,PPP1R16B,PROCR,PSIMCT-1,PTPRT,PXMP4,RALGAPB,RALY,RBL1,RBM12,RBM39,REM1,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TOP1,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,XKR7,ZHX3,ZNF341 chr20 27500000 63025520 Amplification Colorectal cancer GISTIC software 19359472 AAR2,ABHD16B,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27500000 63025520 Amplification Gastric cancer Array CGH 17167181 AAR2,ABHD16B,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27500000 63025520 Deletion Myeloproliferative neoplasm oligo Array CGH 19047681 AAR2,ABHD16B,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27500000 63025520 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 AAR2,ABHD16B,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27500000 63025520 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AAR2,ABHD16B,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27500000 63025520 Gain Human rectal carcinomas oligonucleotide arrays 16397240 AAR2,ABHD16B,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 27500000 63025520 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 AAR2,ABHD16B,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 2751148 2754409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 275668 283512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC3 chr20 275668 283512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC3 chr20 2763960 2769836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2763960 2769836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2763971 2769797 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 2769373 2795378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPXM1 chr20 2769373 2795378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPXM1 chr20 2769373 2967314 Gain and loss Pancreatic cancer SNP array 17952125 C20orf141,CPXM1,PCED1A,PTPRA,TMEM239,VPS16 chr20 2773142 2773442 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 2773550 2774550 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 278277 283511 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC3 chr20 2788501 2791500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 2791501 2800500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf141,TMEM239 chr20 2792841 2967320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf141,PCED1A,PTPRA,TMEM239,VPS16 chr20 2792841 2967320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf141,PCED1A,PTPRA,TMEM239,VPS16 chr20 2800501 2802500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 2801206 2821735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCED1A,VPS16 chr20 28033231 28197751 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr20 28033231 28267569 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr20 28033715 28124670 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 28034001 28264860 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr20 28034013 28119552 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 28048462 28048618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 28063135 28063313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28069297 28267569 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr20 28081598 47163674 Gain Bladder cancer array-CGH 21909424 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,ARHGAP40,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CD40,CDH22,CDK5RAP1,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,CTSA,DBNDD2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM83C,FAM83D,FER1L4,FITM2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,ITCH,JPH2,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00028,LINC00489,LINC00494,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3193,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MKRN7P,MLLT10P1,MMP24,MMP9,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFS1,NNAT,OCSTAMP,PABPC1L,PCIF1,PDRG1,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,POFUT1,PPP1R16B,PROCR,PSIMCT-1,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLPI,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SNX21,SOGA1,SPAG4,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STK4,STK4-AS1,SULF2,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF341,ZNF663,ZSWIM1,ZSWIM3 chr20 28100000 31800000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ASXL1,BCL2L1,BPIFA2,BPIFA4P,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf160,C20orf203,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,SUN5,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 28119552 28151003 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 2811979 2812300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 2812002 2812323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 28121001 28194000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 28122724 28149710 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr20 28122724 28149710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 28127247 28134874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28127247 28134874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 28127247 28134874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28157352 28157463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28157353 28157463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 28157354 28157463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 28184201 29297400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 28185440 28255087 Gain Normal TaqMan assays 20972442 NOT_FOUND chr20 28194001 28252500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 28195074 29288298 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr20 28200000 30500000 Gain Acute lymphoblastic leukemia - 21339820 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PSIMCT-1,REM1,TPX2,TTLL9 chr20 28207263 28212994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 2820948 2821018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCED1A chr20 28209786 28225117 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr20 28225518 28265815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28225539 28247668 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 28225539 28247668 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr20 28225540 28228200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28225540 28228200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28225540 28265815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 28250823 28250961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28251460 28251721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 28252501 28259000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 28259001 29297000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 28400000 31500000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 ASXL1,BCL2L1,C20orf112,C20orf160,C20orf203,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 28400000 31500000 Amplification Normal Refference 21823210 ASXL1,BCL2L1,C20orf112,C20orf160,C20orf203,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 28400000 31500000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ASXL1,BCL2L1,C20orf112,C20orf160,C20orf203,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 28400000 31500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASXL1,BCL2L1,C20orf112,C20orf160,C20orf203,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 28400000 31500000 Gain Ovarian cancer Affymetrix 20844748 ASXL1,BCL2L1,C20orf112,C20orf160,C20orf203,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 28400000 37100000 Copy number Normal - 21701786 AAR2,ACSS2,ACTL10,AHCY,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GHRH,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIAA1755,KIF3B,LBP,LINC00028,LINC00489,LINC00657,LOC100287792,LOC149950,LOC388796,MANBAL,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PROCR,PSIMCT-1,PXMP4,RALY,RBL1,RBM12,RBM39,REM1,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,XKR7,ZNF341 chr20 28400000 37100000 Gain Non-small cell lung cancer dChip 21829676 AAR2,ACSS2,ACTL10,AHCY,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GHRH,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIAA1755,KIF3B,LBP,LINC00028,LINC00489,LINC00657,LOC100287792,LOC149950,LOC388796,MANBAL,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PROCR,PSIMCT-1,PXMP4,RALY,RBL1,RBM12,RBM39,REM1,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,XKR7,ZNF341 chr20 28400000 54400000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,AHCY,ARFGEF2,ARHGAP40,ASIP,ASXL1,ATP9A,B4GALT5,BCAS1,BCAS4,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CD40,CDH22,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CSE1L,CTNNBL1,CTSA,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00028,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3193,MIR3194,MIR3616,MIR3646,MIR4755,MIR4756,MIR499A,MIR499B,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PDRG1,PFDN4,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,POFUT1,PPP1R16B,PREX1,PROCR,PSIMCT-1,PTGIS,PTPN1,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UBE2V1,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YWHAB,ZFP64,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 28400000 62435964 Gain Breast cancer Array CGH 16608533 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 28400000 62435964 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 28400000 62435964 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 2891493 2897995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRA chr20 2901320 2901401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRA chr20 290592 290669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 29165523 30309929 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,PSIMCT-1,REM1 chr20 29192779 35121427 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AAR2,ACSS2,ACTL10,AHCY,ASIP,ASXL1,BCL2L1,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DLGAP4,DNMT3B,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIF3B,LINC00028,LINC00657,LOC149950,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYLK2,NCOA6,NECAB3,NFS1,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PROCR,PSIMCT-1,PXMP4,RALY,RBM12,RBM39,REM1,ROMO1,SCAND1,SNTA1,SPAG4,SUN5,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTLL9,UQCC,XKR7,ZNF341 chr20 29228932 30266484 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,PSIMCT-1,REM1 chr20 29243530 51775662 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,AHCY,ARFGEF2,ARHGAP40,ASIP,ASXL1,ATP9A,B4GALT5,BCAS4,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CD40,CDH22,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CSE1L,CTNNBL1,CTSA,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00028,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3193,MIR3194,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PDRG1,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,POFUT1,PPP1R16B,PREX1,PROCR,PSIMCT-1,PTGIS,PTPN1,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UBE2V1,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YWHAB,ZFP64,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF341,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 29267954 29900137 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,FRG1B,MLLT10P1 chr20 29267954 29900755 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,FRG1B,MLLT10P1 chr20 29267954 29903027 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,FRG1B,MLLT10P1 chr20 29267954 29915627 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,FRG1B,MLLT10P1 chr20 29267954 29916096 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,FRG1B,MLLT10P1 chr20 29267954 29925652 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,FRG1B,MLLT10P1 chr20 29267954 29997115 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,FRG1B,MLLT10P1 chr20 29267954 30036733 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,FRG1B,MLLT10P1 chr20 29267954 30047437 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,FRG1B,MLLT10P1 chr20 29267954 30144980 LOH Normal High-resolution SNP genotyping 21211785 DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,FRG1B,HM13,LINC00028,MLLT10P1,PSIMCT-1,REM1 chr20 29267954 30377495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,PSIMCT-1,REM1,TPX2 chr20 29267954 30377495 Copy number gain Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,PSIMCT-1,REM1,TPX2 chr20 29267954 30432770 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PSIMCT-1,REM1,TPX2 chr20 29267954 30432770 Copy number gain Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PSIMCT-1,REM1,TPX2 chr20 29267954 30511135 LOH Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PSIMCT-1,REM1,TPX2,TTLL9 chr20 29267954 30552858 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PSIMCT-1,REM1,TPX2,TTLL9 chr20 29267954 30552858 Copy number gain Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PSIMCT-1,REM1,TPX2,TTLL9 chr20 29267954 30556083 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PSIMCT-1,REM1,TPX2,TTLL9,XKR7 chr20 29267954 30613051 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BCL2L1,C20orf160,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PSIMCT-1,REM1,TPX2,TTLL9,XKR7 chr20 29267954 30613051 Copy number gain Normal High-resolution SNP genotyping 21211785 BCL2L1,C20orf160,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PSIMCT-1,REM1,TPX2,TTLL9,XKR7 chr20 29267954 30644135 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BCL2L1,C20orf160,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PSIMCT-1,REM1,TPX2,TTLL9,XKR7 chr20 29267954 30792290 LOH Normal High-resolution SNP genotyping 21211785 BCL2L1,C20orf160,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 29267954 31590899 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ASXL1,BCL2L1,C20orf112,C20orf160,C20orf203,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,SUN5,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 29267954 32016276 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ASXL1,BCL2L1,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf160,C20orf203,CDK5RAP1,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,SNTA1,SUN5,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 29267954 32758241 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACTL10,ASXL1,BCL2L1,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf144,C20orf160,C20orf203,CBFA2T2,CDK5RAP1,CHMP4B,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,E2F1,EIF2S2,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MIR4755,MLLT10P1,MYLK2,NECAB3,PDRG1,PLAGL2,POFUT1,PSIMCT-1,PXMP4,RALY,REM1,SNTA1,SUN5,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7,ZNF341 chr20 29268324 29271570 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 29274159 29278897 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 29274929 29275903 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 29275323 31531647 Substitutions and indels small cell lung cancer array-CGH 20016488 ASXL1,BCL2L1,C20orf112,C20orf160,C20orf203,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 29279061 29289343 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 29281535 29283184 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 29297001 29870000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DEFB115,FRG1B,MLLT10P1 chr20 29297401 30309400 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,FRG1B,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MLLT10P1,PSIMCT-1,REM1 chr20 29298698 31127477 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASXL1,BCL2L1,C20orf112,C20orf160,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 29298698 31129972 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ASXL1,BCL2L1,C20orf112,C20orf160,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 29299369 29300369 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 29303506 50714354 Copy number Lung cancer paired-end sequencing 18438408 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,AHCY,ARFGEF2,ARHGAP40,ASIP,ASXL1,ATP9A,B4GALT5,BCAS4,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CD40,CDH22,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CSE1L,CTNNBL1,CTSA,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00028,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3193,MIR3194,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PDRG1,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,POFUT1,PPP1R16B,PREX1,PROCR,PSIMCT-1,PTGIS,PTPN1,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UBE2V1,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YWHAB,ZFP64,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF341,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 29309128 29311096 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29309128 29311096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29309964 48950402 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,ARFGEF2,ARHGAP40,ASIP,ASXL1,B4GALT5,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CD40,CDH22,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CSE1L,CTNNBL1,CTSA,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM83C,FAM83D,FER1L4,FITM2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,ITCH,JPH2,KCNB1,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00028,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3193,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MKRN7P,MLLT10P1,MMP24,MMP9,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFS1,NNAT,OCSTAMP,PABPC1L,PCIF1,PDRG1,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,POFUT1,PPP1R16B,PREX1,PROCR,PSIMCT-1,PTGIS,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UBE2V1,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF341,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 29325634 29326331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29325634 29326331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29325649 29326331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29336791 29338299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29354675 29360049 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 29354676 29360049 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29354676 29360049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29362767 29363426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2936758 2936858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRA chr20 29367867 29413611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 29392835 29395935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29400000 32100000 Gain Gastric cancer Array CGH 16891809 ASXL1,BCL2L1,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf160,C20orf203,CBFA2T2,CDK5RAP1,COMMD7,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,FOXS1,FRG1B,HCK,HM13,HM13-AS1,ID1,KIF3B,LINC00028,LOC149950,MAPRE1,MIR3193,MLLT10P1,MYLK2,PDRG1,PLAGL2,POFUT1,PSIMCT-1,REM1,SNTA1,SUN5,TM9SF4,TPX2,TSPY26P,TTLL9,XKR7 chr20 29400000 37600000 Gain Gastric cancer 5K BAC array CGH 17908304 AAR2,ACSS2,ACTL10,ACTR5,ADIG,AHCY,ARHGAP40,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FAM83D,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GHRH,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIAA1755,KIF3B,LBP,LINC00028,LINC00489,LINC00657,LOC100287792,LOC149950,LOC388796,MANBAL,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PPP1R16B,PROCR,PSIMCT-1,PXMP4,RALGAPB,RALY,RBL1,RBM12,RBM39,REM1,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,XKR7,ZNF341 chr20 29400000 37600000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 AAR2,ACSS2,ACTL10,ACTR5,ADIG,AHCY,ARHGAP40,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FAM83D,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GHRH,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIAA1755,KIF3B,LBP,LINC00028,LINC00489,LINC00657,LOC100287792,LOC149950,LOC388796,MANBAL,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PPP1R16B,PROCR,PSIMCT-1,PXMP4,RALGAPB,RALY,RBL1,RBM12,RBM39,REM1,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,XKR7,ZNF341 chr20 29400000 46400000 Gain Prostate cancer Array CGH 16573809 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,ARHGAP40,ASIP,ASXL1,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CD40,CDH22,CDK5RAP1,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CTNNBL1,CTSA,DBNDD2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM83C,FAM83D,FER1L4,FITM2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,ITCH,JPH2,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00028,LINC00489,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3193,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MKRN7P,MLLT10P1,MMP24,MMP9,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFS1,NNAT,OCSTAMP,PABPC1L,PCIF1,PDRG1,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,POFUT1,PPP1R16B,PROCR,PSIMCT-1,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLPI,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SNX21,SOGA1,SPAG4,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STK4,STK4-AS1,SULF2,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF341,ZNF663,ZSWIM1,ZSWIM3 chr20 29400000 55000000 Copy number Endometrioid adenocarcinoma CGH 16974079 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,AHCY,ARFGEF2,ARHGAP40,ASIP,ASXL1,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTNNBL1,CTSA,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM210B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00028,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR3193,MIR3194,MIR3616,MIR3646,MIR4755,MIR4756,MIR499A,MIR499B,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PDRG1,PFDN4,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,POFUT1,PPP1R16B,PREX1,PROCR,PSIMCT-1,PTGIS,PTPN1,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UBE2V1,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YWHAB,ZFP64,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 29400000 63025520 Gain Breast cancer Microarray-based CGH 17133270 AAR2,ABHD16B,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf201,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00266-1,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PRPF6,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 29408334 29408422 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29408334 29408422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29412239 29412367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29412239 29412367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29412239 29412367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29420082 29425364 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29420082 29425364 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29420082 29425364 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29420082 29425364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29420088 29424825 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 29420088 29424825 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 29427783 29427910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29427783 29427911 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29428627 29442067 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 29428629 29442067 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29428629 29442067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29428629 29442067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29428629 29442067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29436566 62363603 Gain Oral cancer 105K CGH oligonucleotide array 21386901 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BCL2L1,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf203,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,ID1,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF3B,L3MBTL1,LAMA5,LBP,LINC00028,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PDRG1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSIMCT-1,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TM9SF4,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YTHDF1,YWHAB,ZBP1,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 29440432 29442067 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 29443081 34930001 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 AAR2,ACSS2,ACTL10,AHCY,ASIP,ASXL1,BCL2L1,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,COX4I2,CPNE1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DNMT3B,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,FOXS1,FRG1B,GDF5,GGT7,GSS,HCK,HM13,HM13-AS1,HMGB3P1,ID1,ITCH,KIF3B,LINC00028,LINC00657,LOC149950,MAP1LC3A,MAPRE1,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MLLT10P1,MMP24,MYH7B,MYLK2,NCOA6,NECAB3,NFS1,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PROCR,PSIMCT-1,PXMP4,RALY,RBM12,RBM39,REM1,ROMO1,SCAND1,SNTA1,SPAG4,SUN5,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTLL9,UQCC,XKR7,ZNF341 chr20 29456333 29464107 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29456333 29464107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29456333 29464107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29456360 29457651 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 29472902 29480638 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 29472903 29475331 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29472903 29475331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2947501 3053000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNRH2,MRPS26,OXT,PTPRA chr20 29489789 29489821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 29492071 29501721 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 29492071 29501721 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20688871 NOT_FOUND chr20 29492072 29501720 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29492072 29501720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29492072 29501720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29492072 29501720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29506146 29514447 Loss Normal 244K array 17666407 NOT_FOUND chr20 29516969 29524477 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 29516969 29524477 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20688871 NOT_FOUND chr20 29516970 29524477 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29516970 29524477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29516970 29524477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29516991 29517119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29526118 29834552 Amplification Cancer Affymetrix 250K Sty array 20164920 FRG1B,MLLT10P1 chr20 29526765 29536369 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20688871 NOT_FOUND chr20 29526765 29536369 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 29526765 29536369 Gain or loss Cancer - 20668451 NOT_FOUND chr20 29526765 29536369 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 29526765 29536369 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 29526765 29536369 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 29526765 29536369 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 29526766 29536368 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29526766 29536368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29526766 29536368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29526766 29536368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29537334 29538662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29537334 29538751 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29565892 29621031 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FRG1B chr20 29565892 29621031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRG1B chr20 29565892 29621031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRG1B chr20 29565901 29621031 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FRG1B chr20 29565902 29621029 Gain and loss Pancreatic cancer SNP array 17952125 FRG1B chr20 29570389 29722907 Duplication Normal Affymetrix 6.0 microarrays 20967226 FRG1B,MLLT10P1 chr20 29598968 29599513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29600517 29645410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRG1B,MLLT10P1 chr20 29632553 29632651 Gain and loss Pancreatic cancer SNP array 17952125 FRG1B chr20 29632553 29632656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRG1B chr20 29632553 29632668 Gain and loss Pancreatic cancer SNP array 17952125 FRG1B chr20 29656752 29657974 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 29656753 29657974 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29656753 29657974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29656753 29657974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29656753 29657974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29689352 29696461 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29689352 29696461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29689352 29696461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29689352 29696461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29695950 30298646 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,HM13,HM13-AS1,ID1,LINC00028,MIR3193,PSIMCT-1,REM1 chr20 2969756 2970052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRA chr20 29703246 29808748 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr20 29715916 29774324 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29715916 29774324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29715916 29774324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29715921 29775390 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 29715921 29775390 Gain or loss Cancer - 20668451 NOT_FOUND chr20 29715921 29775390 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 29715921 29775390 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 29715921 29775390 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 29715921 29775390 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 29715921 29775390 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr20 29715922 29774317 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 29715924 29774317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 2972268 2974391 Gain and loss Pancreatic cancer SNP array 17952125 PTPRA chr20 2972268 2974393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRA chr20 2972268 2974393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRA chr20 2974675 2976893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRA chr20 2974675 2976893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRA chr20 2974675 2976895 Gain and loss Pancreatic cancer SNP array 17952125 PTPRA chr20 2974675 2976896 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 PTPRA chr20 2975728 2982586 Loss Normal 244K array 17666407 PTPRA chr20 29772662 29772795 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 29790564 29853264 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DEFB115 chr20 29790565 29853264 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 DEFB115 chr20 29790565 29853264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEFB115 chr20 29790565 29853264 Gain and loss Pancreatic cancer SNP array 17952125 DEFB115 chr20 29790565 29853264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEFB115 chr20 29824811 29824900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 29830000 30470000 Gain Breast cancer aCGH 21509527 BCL2L1,COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MYLK2,PSIMCT-1,REM1,TPX2,TTLL9 chr20 29841456 29872807 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DEFB115 chr20 2985867 2986182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRA chr20 29859967 29860213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 2986523 2986623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRA chr20 29870001 29902500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DEFB116 chr20 29870772 29886153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29870772 29886153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29870837 29886147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29895763 29897081 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20688871 DEFB116 chr20 29895764 29897081 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 DEFB116 chr20 29895765 29897083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEFB116 chr20 29895765 29897083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEFB116 chr20 29896014 29897006 Gain and loss Pancreatic cancer SNP array 17952125 DEFB116 chr20 29899102 29922140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29899102 29924483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29899102 29924483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29900137 29922250 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 29900137 29922250 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 29900755 30036733 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DEFB118,DEFB119,DEFB121,DEFB122,DEFB123 chr20 29900755 30036733 Copy number gain Normal High-resolution SNP genotyping 21211785 DEFB118,DEFB119,DEFB121,DEFB122,DEFB123 chr20 29902501 30037000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DEFB118,DEFB119,DEFB121,DEFB122,DEFB123 chr20 29915627 29937945 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 29915627 29937945 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 29922166 29996431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEFB118,DEFB119,DEFB121 chr20 29922166 29996431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEFB118,DEFB119,DEFB121 chr20 29922250 30511135 LOH Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MYLK2,PSIMCT-1,REM1,TPX2,TTLL9 chr20 29923143 29952988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 29925652 30511135 LOH Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MYLK2,PSIMCT-1,REM1,TPX2,TTLL9 chr20 29937208 29944113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 29937945 30511135 LOH Normal High-resolution SNP genotyping 21211785 BCL2L1,COX4I2,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MYLK2,PSIMCT-1,REM1,TPX2,TTLL9 chr20 29949938 29996426 Gain and loss Pancreatic cancer SNP array 17952125 DEFB118,DEFB119,DEFB121 chr20 29952718 29952864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29952718 29952865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 29952718 29952893 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 29973181 29973281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DEFB119 chr20 29974971 30690364 LOH Normal High-resolution SNP genotyping 21211785 BCL2L1,C20orf160,COX4I2,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DUSP15,FOXS1,HCK,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MYLK2,PDRG1,PSIMCT-1,REM1,TPX2,TTLL9,XKR7 chr20 29996418 30003544 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DEFB121 chr20 29996419 30003544 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 DEFB121 chr20 29996420 30003544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEFB121 chr20 29996420 30003544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEFB121 chr20 29996430 30003556 Gain and loss Pancreatic cancer SNP array 17952125 DEFB121 chr20 3000265 3001162 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PTPRA chr20 3000266 3001162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRA chr20 3000266 3001162 Gain and loss Pancreatic cancer SNP array 17952125 PTPRA chr20 3000266 3001162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRA chr20 30003605 30048321 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DEFB122,DEFB123 chr20 30019466 30049916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEFB123 chr20 30019466 30049916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEFB123 chr20 30036733 30690364 LOH Normal High-resolution SNP genotyping 21211785 BCL2L1,C20orf160,COX4I2,DEFB123,DEFB124,DUSP15,FOXS1,HCK,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MYLK2,PDRG1,PSIMCT-1,REM1,TPX2,TTLL9,XKR7 chr20 30037001 30039000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DEFB123 chr20 30039001 30497000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L1,COX4I2,DEFB124,DUSP15,FOXS1,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MYLK2,PSIMCT-1,REM1,TPX2,TTLL9 chr20 30046608 30048510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 30059831 30059901 Gain and loss Pancreatic cancer SNP array 17952125 DEFB124 chr20 30059831 30059901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEFB124 chr20 30061909 30083645 Gain and loss Pancreatic cancer SNP array 17952125 LINC00028,REM1 chr20 30061914 30083641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00028,REM1 chr20 30061914 30083641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00028,REM1 chr20 30072970 30754717 LOH Normal High-resolution SNP genotyping 21211785 BCL2L1,C20orf160,COX4I2,DUSP15,FOXS1,HCK,HM13,HM13-AS1,ID1,LINC00028,MIR3193,MYLK2,PDRG1,PSIMCT-1,TM9SF4,TPX2,TTLL9,XKR7 chr20 3008556 3008706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRA chr20 30102052 30102169 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 30102052 30102169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 30103706 30153320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HM13,PSIMCT-1 chr20 30103706 30153320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HM13,PSIMCT-1 chr20 30103717 30153318 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 HM13,PSIMCT-1 chr20 30103718 30153316 Gain and loss Pancreatic cancer SNP array 17952125 HM13,PSIMCT-1 chr20 30103718 30153318 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 HM13,PSIMCT-1 chr20 30111396 30111455 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 HM13 chr20 3011188 3013370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRA chr20 3011188 3013370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRA chr20 3011201 3013370 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PTPRA chr20 3011203 3013370 Gain and loss Pancreatic cancer SNP array 17952125 PTPRA chr20 30160970 30218722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HM13-AS1,ID1,MIR3193 chr20 30160970 30218722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HM13-AS1,ID1,MIR3193 chr20 30161200 30218718 Gain and loss Pancreatic cancer SNP array 17952125 ID1,MIR3193 chr20 30221854 30222254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3022817 3023155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 3022867 3023153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 30240666 30241334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 30240666 30241334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 30240666 30241733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 30243967 30259207 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 BCL2L1 chr20 30243968 30259192 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L1 chr20 30243968 30259207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L1 chr20 30243968 30259207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L1 chr20 30247599 30282935 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCL2L1 chr20 30259356 30290128 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 BCL2L1 chr20 30259357 30290125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L1 chr20 30259357 30290125 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L1 chr20 30259357 30290125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L1 chr20 30262875 30262923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL2L1 chr20 30264828 30264928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL2L1 chr20 30282576 30282641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BCL2L1 chr20 30289259 30289311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L1 chr20 30329127 30386472 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TPX2 chr20 30329128 30386468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPX2 chr20 30329128 30386468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPX2 chr20 30329128 30386470 Gain and loss Pancreatic cancer SNP array 17952125 TPX2 chr20 3032929 3033522 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 30356095 35515209 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAR2,ACSS2,ACTL10,AHCY,ASIP,ASXL1,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,CPNE1,DLGAP4,DNMT3B,DSN1,DUSP15,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,FOXS1,GDF5,GGT7,GSS,HCK,HMGB3P1,ITCH,KIF3B,LINC00657,LOC149950,MAP1LC3A,MAPRE1,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,MYL9,MYLK2,NCOA6,NDRG3,NECAB3,NFS1,PDRG1,PHF20,PIGU,PLAGL2,POFUT1,PROCR,PXMP4,RALY,RBM12,RBM39,ROMO1,SCAND1,SLA2,SNTA1,SOGA1,SPAG4,SUN5,TGIF2,TGIF2-C20ORF24,TM9SF4,TP53INP2,TPX2,TRPC4AP,TSPY26P,TTLL9,UQCC,XKR7,ZNF341 chr20 30361301 30365200 Deletion Glioma mate-paired sequence 20126413 TPX2 chr20 3036220 3088540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AVP,OXT,UBOX5,UBOX5-AS1 chr20 3036220 3088540 Gain and loss Pancreatic cancer SNP array 17952125 AVP,OXT,UBOX5,UBOX5-AS1 chr20 3036220 3088540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AVP,OXT,UBOX5,UBOX5-AS1 chr20 30362889 30363193 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPX2 chr20 30409814 30490782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP15,FOXS1,MYLK2,TTLL9 chr20 30409814 30490782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP15,FOXS1,MYLK2,TTLL9 chr20 30409821 30490783 Gain and loss Pancreatic cancer SNP array 17952125 DUSP15,FOXS1,MYLK2,TTLL9 chr20 30469393 44484622 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,ARHGAP40,ASIP,ASXL1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHD6,CHMP4B,COMMD7,CPNE1,CTNNBL1,DBNDD2,DHX35,DLGAP4,DNMT3B,DNTTIP1,DSN1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,FAM83C,FAM83D,FER1L4,FITM2,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HCK,HMGB3P1,HNF4A,IFT52,ITCH,JPH2,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00489,LINC00657,LOC100287792,LOC100505783,LOC149950,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYBL2,MYH7B,MYL9,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PABPC1L,PDRG1,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,POFUT1,PPP1R16B,PROCR,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,RIMS4,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC32A1,SLPI,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SNX21,SOGA1,SPAG4,SPINT3,SPINT4,SRC,SRSF6,STK4,STK4-AS1,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53TG5,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,YWHAB,ZHX3,ZNF341 chr20 30474228 30474328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTLL9 chr20 30490000 31490000 Gain Breast cancer aCGH 21509527 ASXL1,C20orf112,C20orf160,C20orf203,COMMD7,DNMT3B,HCK,KIF3B,LOC149950,MAPRE1,PDRG1,PLAGL2,POFUT1,TM9SF4,TSPY26P,TTLL9,XKR7 chr20 30494522 30534949 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PDRG1,TTLL9 chr20 30495256 30495591 Gain and loss Pancreatic cancer SNP array 17952125 TTLL9 chr20 30497001 30527500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTLL9 chr20 30498256 30498508 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TTLL9 chr20 30498330 30534849 Gain and loss Pancreatic cancer SNP array 17952125 PDRG1,TTLL9 chr20 30498330 30636536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf160,PDRG1,TTLL9,XKR7 chr20 30498330 30636536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf160,PDRG1,TTLL9,XKR7 chr20 30504509 30753784 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C20orf160,HCK,PDRG1,TM9SF4,TTLL9,XKR7 chr20 30504509 31082234 LOH Normal High-resolution SNP genotyping 21211785 ASXL1,C20orf112,C20orf160,HCK,KIF3B,PDRG1,PLAGL2,POFUT1,TM9SF4,TSPY26P,TTLL9,XKR7 chr20 30508817 30508911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTLL9 chr20 30511135 30707101 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C20orf160,HCK,PDRG1,TM9SF4,TTLL9,XKR7 chr20 30511135 30802035 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C20orf160,HCK,PDRG1,PLAGL2,POFUT1,TM9SF4,TSPY26P,TTLL9,XKR7 chr20 30511135 30802035 Copy number gain Normal High-resolution SNP genotyping 21211785 C20orf160,HCK,PDRG1,PLAGL2,POFUT1,TM9SF4,TSPY26P,TTLL9,XKR7 chr20 30527501 30568000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDRG1,TTLL9,XKR7 chr20 3053001 3054500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OXT chr20 30540000 40000000 Gain Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 AAR2,ACSS2,ACTL10,ACTR5,ADIG,AHCY,ARHGAP40,ASIP,ASXL1,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf203,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,COMMD7,CPNE1,CTNNBL1,DHX35,DLGAP4,DNMT3B,DSN1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EMILIN3,EPB41L1,ERGIC3,FAM83C,FAM83D,FER1L4,GDF5,GGT7,GHRH,GSS,HCK,HMGB3P1,ITCH,KIAA1755,KIF3B,LBP,LINC00489,LINC00657,LOC100287792,LOC149950,LOC339568,LOC388796,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,MYL9,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PHF20,PIGU,PLAGL2,PLCG1,POFUT1,PPP1R16B,PROCR,PXMP4,RALGAPB,RALY,RBL1,RBM12,RBM39,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SOGA1,SPAG4,SRC,SUN5,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TOP1,TP53INP2,TRPC4AP,TSPY26P,TTI1,UQCC,VSTM2L,XKR7,ZHX3,ZNF341 chr20 30543764 30543857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 30561330 30586987 Gain and loss Pancreatic cancer SNP array 17952125 XKR7 chr20 30568001 30742500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf160,HCK,TM9SF4,XKR7 chr20 30570580 30571062 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 XKR7 chr20 30616455 30660356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf160,HCK chr20 30616455 30660356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf160,HCK chr20 30675396 30905617 Gain small cell lung cancer Real-time Quantitative PCR 17426248 HCK,KIF3B,PLAGL2,POFUT1,TM9SF4,TSPY26P chr20 30684323 30703341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HCK,TM9SF4 chr20 30684323 30703341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HCK,TM9SF4 chr20 30690364 30792290 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PLAGL2,TM9SF4,TSPY26P chr20 30690364 30792290 Copy number gain Normal High-resolution SNP genotyping 21211785 PLAGL2,TM9SF4,TSPY26P chr20 30690684 56491951 Deletion Acute myeloid leukemia - 21251322 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,AHCY,ARFGEF2,ARHGAP40,ASIP,ASXL1,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf173,C20orf203,C20orf24,C20orf43,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,COMMD7,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CYP24A1,DBNDD2,DDX27,DHX35,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPM1,DSN1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HMGB3P1,HNF4A,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR3194,MIR3616,MIR3646,MIR4325,MIR4532,MIR4755,MIR4756,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCG1,PLTP,PMEPA1,POFUT1,PPP1R16B,PREX1,PROCR,PTGIS,PTPN1,PTPRT,PXMP4,R3HDML,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SUN5,SYS1,SYS1-DBNDD2,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TM9SF4,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTPAL,UBE2C,UBE2V1,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZBP1,ZFP64,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 30701895 30702615 Gain and loss Pancreatic cancer SNP array 17952125 TM9SF4 chr20 30721280 30721364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TM9SF4 chr20 30741643 30742278 Gain and loss Pancreatic cancer SNP array 17952125 TM9SF4 chr20 30741643 30742278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TM9SF4 chr20 30742501 31009500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASXL1,KIF3B,PLAGL2,POFUT1,TM9SF4,TSPY26P chr20 3075164 3088532 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 UBOX5,UBOX5-AS1 chr20 3075167 3088532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBOX5,UBOX5-AS1 chr20 3075167 3088532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBOX5,UBOX5-AS1 chr20 30754153 30795475 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PLAGL2,TM9SF4,TSPY26P chr20 30754166 30794922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLAGL2,TM9SF4,TSPY26P chr20 30754166 30794922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLAGL2,TM9SF4,TSPY26P chr20 30754166 30795464 Gain and loss Pancreatic cancer SNP array 17952125 PLAGL2,TM9SF4,TSPY26P chr20 30761543 31041924 Copy number gain Normal High-resolution SNP genotyping 21211785 ASXL1,C20orf112,KIF3B,PLAGL2,POFUT1,TSPY26P chr20 30774532 30776439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 30791024 30791695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLAGL2 chr20 30813851 30860823 Gain or loss Breast cancer - 20668451 POFUT1 chr20 30813851 30860823 Gain or loss Cancer - 20668451 POFUT1 chr20 30813851 30860823 Gain or loss Lung cancer - 20668451 POFUT1 chr20 30813851 30860823 Gain or loss Ovarian cancer - 20668451 POFUT1 chr20 30813851 30860823 Gain or loss Pancreas cancer - 20668451 POFUT1 chr20 30813851 30860823 Gain or loss Prostate cancer - 20668451 POFUT1 chr20 30813852 30860822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POFUT1 chr20 30813852 30860822 Gain and loss Pancreatic cancer SNP array 17952125 POFUT1 chr20 30813852 30860822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POFUT1 chr20 30813852 30860823 Copy number Autism exome sequencing 22495311 POFUT1 chr20 30817198 30817298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POFUT1 chr20 30831318 30860823 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 30839943 53398687 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,AHCY,ARFGEF2,ARHGAP40,ASIP,ASXL1,ATP9A,B4GALT5,BCAS1,BCAS4,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf173,C20orf203,C20orf24,CBFA2T2,CD40,CDH22,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,COMMD7,CPNE1,CSE1L,CTNNBL1,CTSA,CYP24A1,DBNDD2,DDX27,DHX35,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPM1,DSN1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HMGB3P1,HNF4A,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,KIF3B,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC149950,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MIR3194,MIR3616,MIR3646,MIR4755,MIR4756,MIR499A,MIR499B,MIR644A,MIR645,MKRN7P,MMP24,MMP9,MOCS3,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PFDN4,PHF20,PI3,PIGT,PIGU,PKIG,PLCG1,PLTP,PPP1R16B,PREX1,PROCR,PTGIS,PTPN1,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TRPC4AP,TSHZ2,TTI1,TTPAL,UBE2C,UBE2V1,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 30871359 30901871 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KIF3B chr20 30871435 30901867 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 KIF3B chr20 30871437 30901871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF3B chr20 30871437 30901871 Gain and loss Pancreatic cancer SNP array 17952125 KIF3B chr20 30871437 30901871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF3B chr20 3088001 3193000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDRGK1,FASTKD5,ITPA,PROSAPIP1,UBOX5,UBOX5-AS1 chr20 30905136 30905210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF3B chr20 3091263 3102192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBOX5,UBOX5-AS1 chr20 3091263 3102192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBOX5,UBOX5-AS1 chr20 3091272 3097207 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 UBOX5,UBOX5-AS1 chr20 3091273 3102194 Gain and loss Pancreatic cancer SNP array 17952125 UBOX5,UBOX5-AS1 chr20 30915254 30943734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF3B chr20 309273 326205 Gain and loss Pancreatic cancer SNP array 17952125 SOX12 chr20 30930515 30930615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 309308 326197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX12 chr20 309308 326197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX12 chr20 309308 326203 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 SOX12 chr20 30951640 30951740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASXL1 chr20 30952956 30953026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASXL1 chr20 30953877 31845967 LOH Normal High-resolution SNP genotyping 21211785 ASXL1,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf203,COMMD7,DNMT3B,LOC149950,MAPRE1,SUN5 chr20 3095631 3095731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBOX5,UBOX5-AS1 chr20 30959468 31169289 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASXL1,C20orf112 chr20 30959468 31211827 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ASXL1,C20orf112,LOC149950 chr20 30980263 31002179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASXL1 chr20 30987401 30995100 Deletion Glioma mate-paired sequence 20126413 ASXL1 chr20 30989146 30993039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASXL1 chr20 30989149 30993049 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ASXL1 chr20 31009501 31142500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASXL1,C20orf112 chr20 31035241 31055900 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf112 chr20 31035242 31055900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31035242 31055900 Gain and loss Pancreatic cancer SNP array 17952125 C20orf112 chr20 31035242 31055900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31039788 31169289 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C20orf112 chr20 31041924 59800988 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,AHCY,APCDD1L,APCDD1L-AS1,ARFGEF2,ARHGAP40,ASIP,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf173,C20orf197,C20orf203,C20orf24,C20orf43,C20orf85,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,COMMD7,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPM1,DSN1,DYNLRB1,E2F1,EDEM2,EDN3,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GNAS,GNAS-AS1,GSS,GTSF1L,HMGB3P1,HNF4A,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MC3R,MIR296,MIR298,MIR3194,MIR3616,MIR3646,MIR4325,MIR4532,MIR4533,MIR4755,MIR4756,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NNAT,NPEPL1,OCSTAMP,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLCG1,PLTP,PMEPA1,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PROCR,PTGIS,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRSF6,STAU1,STK4,STK4-AS1,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TRPC4AP,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZBP1,ZFP64,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 31059067 31075175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31059067 31075175 Gain and loss Pancreatic cancer SNP array 17952125 C20orf112 chr20 31059067 31075175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31059067 31075176 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf112 chr20 31065762 31089000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C20orf112 chr20 31073484 31933973 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf203,COMMD7,DNMT3B,LOC149950,MAPRE1,SUN5 chr20 31073600 31118417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C20orf112 chr20 31083114 31095514 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf112 chr20 31083115 31095514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31083115 31095514 Gain and loss Pancreatic cancer SNP array 17952125 C20orf112 chr20 31083115 31095514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31083200 32281509 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf144,C20orf203,CBFA2T2,CDK5RAP1,COMMD7,DNMT3B,E2F1,LOC149950,MAPRE1,NECAB3,SNTA1,SUN5 chr20 31098984 31099676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31098990 31099667 Gain and loss Pancreatic cancer SNP array 17952125 C20orf112 chr20 31098992 31099050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf112 chr20 31100419 31100719 Gain Osteosarcoma References 21215367 C20orf112 chr20 31100556 31101556 Gain Osteosarcoma References 21215367 C20orf112 chr20 31106798 31125104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31106798 31125104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31106890 31125095 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf112 chr20 31106891 31125095 Gain and loss Pancreatic cancer SNP array 17952125 C20orf112 chr20 31115742 31115790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf112 chr20 31125740 31128978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C20orf112 chr20 31133029 31167037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31133029 31167037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf112 chr20 31134415 31163218 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf112 chr20 31134416 31163217 Gain and loss Pancreatic cancer SNP array 17952125 C20orf112 chr20 31142501 31232500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf112,C20orf203,LOC149950 chr20 31148580 31148663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf112 chr20 31155166 31899247 LOH Normal High-resolution SNP genotyping 21211785 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf112,C20orf203,COMMD7,DNMT3B,LOC149950,MAPRE1,SUN5 chr20 31176065 31176143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC149950 chr20 3119021 3133295 Gain and loss Pancreatic cancer SNP array 17952125 FASTKD5,UBOX5,UBOX5-AS1 chr20 3119021 3133331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FASTKD5,UBOX5,UBOX5-AS1 chr20 3119021 3133331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FASTKD5,UBOX5,UBOX5-AS1 chr20 31191870 31838805 LOH Normal High-resolution SNP genotyping 21211785 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf203,COMMD7,DNMT3B,LOC149950,MAPRE1,SUN5 chr20 31213235 31232879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf203 chr20 31213235 31232879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf203 chr20 31213315 31232884 Gain and loss Pancreatic cancer SNP array 17952125 C20orf203 chr20 31215443 31215543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 31219620 31232884 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf203 chr20 31232501 31234000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf203 chr20 31234001 31547000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf203,COMMD7,DNMT3B,MAPRE1 chr20 31238294 31238394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf203 chr20 31238858 31239759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf203 chr20 31245072 31261921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31245072 31261921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31245072 31261929 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 31245072 31261929 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31268795 31279220 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 31268796 31279218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31268796 31279218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31268824 31279274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31274043 31274102 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 31286752 31287048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31287461 31294776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COMMD7 chr20 31287461 31294776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMMD7 chr20 31287462 31294776 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 COMMD7 chr20 31287463 31294775 Gain and loss Pancreatic cancer SNP array 17952125 COMMD7 chr20 31317649 32381992 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,COMMD7,DNMT3B,E2F1,MAPRE1,NECAB3,PXMP4,SNTA1,SUN5,ZNF341 chr20 31323729 31324124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMMD7 chr20 31327508 32381992 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,COMMD7,DNMT3B,E2F1,MAPRE1,NECAB3,PXMP4,SNTA1,SUN5,ZNF341 chr20 31334601 31361345 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DNMT3B chr20 31334602 31361345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT3B chr20 31334602 31361345 Gain and loss Pancreatic cancer SNP array 17952125 DNMT3B chr20 31334602 31361345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT3B chr20 31340950 32381992 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,DNMT3B,E2F1,MAPRE1,NECAB3,PXMP4,SNTA1,SUN5,ZNF341 chr20 31368336 31381436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT3B chr20 31368903 33325017 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,DNMT3B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MAPRE1,MIR4755,MIR644A,NCOA6,NECAB3,PIGU,PXMP4,RALY,SNTA1,SUN5,TP53INP2,ZNF341 chr20 31376317 31967280 LOH Normal High-resolution SNP genotyping 21211785 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,CDK5RAP1,DNMT3B,MAPRE1,SUN5 chr20 31376317 33000409 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,DNMT3B,E2F1,EIF2S2,ITCH,MAPRE1,MIR4755,NECAB3,PXMP4,RALY,SNTA1,SUN5,ZNF341 chr20 31378713 32381992 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,DNMT3B,E2F1,MAPRE1,NECAB3,PXMP4,SNTA1,SUN5,ZNF341 chr20 3138056 3152504 Gain and loss Pancreatic cancer SNP array 17952125 FASTKD5,PROSAPIP1,UBOX5 chr20 3138056 3152506 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 FASTKD5,PROSAPIP1,UBOX5 chr20 3138056 3152516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FASTKD5,PROSAPIP1,UBOX5 chr20 3138056 3152516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FASTKD5,PROSAPIP1,UBOX5 chr20 31381099 31899247 LOH Normal High-resolution SNP genotyping 21211785 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,DNMT3B,MAPRE1,SUN5 chr20 31381099 31917655 LOH Normal High-resolution SNP genotyping 21211785 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,DNMT3B,MAPRE1,SUN5 chr20 31399187 31401738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31399202 31401738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31402713 32106257 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,CBFA2T2,CDK5RAP1,MAPRE1,SNTA1,SUN5 chr20 31404105 31405541 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31404105 31405857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31404105 31405857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31404300 32381992 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,E2F1,MAPRE1,NECAB3,PXMP4,SNTA1,SUN5,ZNF341 chr20 31410305 31452998 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MAPRE1 chr20 31410308 31452998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPRE1 chr20 31410308 31452998 Gain and loss Pancreatic cancer SNP array 17952125 MAPRE1 chr20 31410308 31452998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE1 chr20 31443714 31446595 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr20 31446000 44608000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,ARHGAP40,ASIP,BLCAP,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf118,C20orf132,C20orf144,C20orf152,C20orf173,C20orf24,CBFA2T2,CDK5RAP1,CEP250,CHD6,CHMP4B,CPNE1,CTNNBL1,CTSA,DBNDD2,DHX35,DLGAP4,DNTTIP1,DSN1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,FAM83C,FAM83D,FER1L4,FITM2,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HMGB3P1,HNF4A,IFT52,ITCH,JPH2,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00657,LOC100287792,LOC100505783,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MATN4,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYBL2,MYH7B,MYL9,NCOA6,NDRG3,NECAB3,NEURL2,NFS1,NNAT,PABPC1L,PCIF1,PHF20,PI3,PIGT,PIGU,PKIG,PLCG1,PLTP,PPP1R16B,PROCR,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,RIMS4,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC32A1,SLPI,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNTA1,SNX21,SOGA1,SPAG4,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STK4,STK4-AS1,SUN5,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53TG5,TRPC4AP,TTI1,TTPAL,UBE2C,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZNF335,ZNF341,ZSWIM1,ZSWIM3 chr20 31446885 31967280 LOH Normal High-resolution SNP genotyping 21211785 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,CDK5RAP1,SUN5 chr20 31459423 31495359 Copy number Gastric cancer Human cDNA microarrays 17229543 NOT_FOUND chr20 31459424 31495359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31459424 31495359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31459424 31495359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31476003 31701498 Gain and loss Pancreatic cancer SNP array 17952125 BPIFB2,BPIFB3,BPIFB4,BPIFB6,SUN5 chr20 31496154 31496254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 31497814 33184582 Gain Anaplastic thyroid cancer 33K microarrays 18753363 ACTL10,AHCY,ASIP,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NECAB3,PIGU,PXMP4,RALY,SNTA1,SUN5,ZNF341 chr20 31500000 33900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSS2,ACTL10,AHCY,ASIP,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,FAM83C,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,PIGU,PROCR,PXMP4,RALY,SNTA1,SUN5,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 31500000 33900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSS2,ACTL10,AHCY,ASIP,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,FAM83C,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,PIGU,PROCR,PXMP4,RALY,SNTA1,SUN5,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 31500000 33900000 Gain Barrett's adenocarcinoma FISH 18663352 ACSS2,ACTL10,AHCY,ASIP,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,FAM83C,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,PIGU,PROCR,PXMP4,RALY,SNTA1,SUN5,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 31500000 62435964 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf111,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DLGAP4,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HMGB3P1,HNF4A,HRH3,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TRPC4AP,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 31506201 31509900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 31512382 32555745 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,SNTA1,SUN5,ZNF341 chr20 31538763 31669623 Substitutions and indels small cell lung cancer array-CGH 20016488 BPIFB2,BPIFB3,BPIFB4,BPIFB6,SUN5 chr20 31541584 31701503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BPIFB2,BPIFB3,BPIFB4,BPIFB6,SUN5 chr20 31541584 31701503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BPIFB2,BPIFB3,BPIFB4,BPIFB6,SUN5 chr20 31548010 31549499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 3156063 3166812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3156063 3166812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3156064 3166373 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31601410 31601460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BPIFB2 chr20 31626099 31626194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BPIFB6 chr20 31674735 62435964 Substitutions and indels small cell lung cancer array-CGH 20016488 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,ADNP,ADRM1,AHCY,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB4,C20orf111,C20orf118,C20orf132,C20orf144,C20orf151,C20orf152,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CDH22,CDH26,CDH4,CDK5RAP1,CEBPB,CEP250,CHD6,CHMP4B,CHRNA4,COL20A1,COL9A3,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DLGAP4,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DYNLRB1,E2F1,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HMGB3P1,HNF4A,HRH3,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MAP1LC3A,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MKRN7P,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,PXMP4,R3HDML,RAB22A,RAE1,RALGAPB,RALY,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNTA1,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TRPC4AP,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF341,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 31686292 32150460 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB4,CBFA2T2,CDK5RAP1,SNTA1 chr20 31694501 31706000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BPIFB4 chr20 31706001 31738500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 31708555 31725880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31708555 31725925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31708555 31725925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31713751 31715382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31713751 31715382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31713780 31715381 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 31713781 31715381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31714033 32101033 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,CBFA2T2,CDK5RAP1,SNTA1 chr20 31717965 31719992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31717965 31719992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31718527 31719687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31726952 31737871 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 31727147 31737871 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 31727150 31737854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31727150 31737854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31737609 31737881 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr20 31738501 32610000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31749203 31749280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 31754209 31771797 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BPIFA2 chr20 31754209 31771797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BPIFA2 chr20 31754209 31771797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BPIFA2 chr20 31758176 31771764 Gain and loss Pancreatic cancer SNP array 17952125 BPIFA2 chr20 31761962 31806760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPIFA2,BPIFA3,BPIFA4P chr20 31765508 32372113 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,C20orf144,CBFA2T2,CDK5RAP1,E2F1,NECAB3,PXMP4,SNTA1,ZNF341 chr20 31770509 32603138 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFA1,BPIFA3,BPIFA4P,BPIFB1,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31778438 31811287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPIFA3,BPIFA4P chr20 3177948 3336255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf194,DDRGK1,ITPA,SLC4A11 chr20 3177948 3336255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf194,DDRGK1,ITPA,SLC4A11 chr20 31783124 31843736 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BPIFA1,BPIFA3,BPIFA4P chr20 31783124 31843736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BPIFA1,BPIFA3,BPIFA4P chr20 31783124 31843736 Gain and loss Pancreatic cancer SNP array 17952125 BPIFA1,BPIFA3,BPIFA4P chr20 31783124 31843736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BPIFA1,BPIFA3,BPIFA4P chr20 31787547 31787637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BPIFA4P chr20 31794258 31794358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BPIFA4P chr20 3179804 3336204 Gain and loss Pancreatic cancer SNP array 17952125 C20orf194,DDRGK1,ITPA,SLC4A11 chr20 31798790 31799110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 31803634 31804010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31827633 31827733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BPIFA1 chr20 31842970 32592373 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFB1,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31842970 32619733 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFB1,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31842970 33000409 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,BPIFB1,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,EIF2S2,ITCH,MIR4755,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31843781 31844382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 31859308 32372113 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,BPIFB1,C20orf144,CBFA2T2,CDK5RAP1,E2F1,NECAB3,PXMP4,SNTA1,ZNF341 chr20 31862780 31905830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BPIFB1 chr20 31862780 31905830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BPIFB1 chr20 31862780 31905830 Gain and loss Pancreatic cancer SNP array 17952125 BPIFB1 chr20 31862780 31905830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BPIFB1 chr20 31916556 32604364 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31916556 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,ACTL10,AHCY,ASIP,C20orf144,C20orf173,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,CPNE1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,NFS1,PIGU,PROCR,PXMP4,RALY,RBM12,RBM39,ROMO1,SNTA1,SPAG4,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 31919121 32325488 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,E2F1,NECAB3,PXMP4,SNTA1,ZNF341 chr20 31933973 33224899 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NECAB3,PIGU,PXMP4,RALY,SNTA1,ZNF341 chr20 31942642 32603138 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31942642 32768817 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,EIF2S2,MIR4755,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31942642 32814706 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,EIF2S2,MIR4755,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31942642 33008382 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,EIF2S2,ITCH,MIR4755,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31943750 32592373 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31943750 32692106 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,EIF2S2,MIR4755,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31954569 31999620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDK5RAP1,SNTA1 chr20 31963809 31964823 Gain and loss Pancreatic cancer SNP array 17952125 CDK5RAP1 chr20 31963809 31964823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK5RAP1 chr20 31971593 33000409 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,EIF2S2,ITCH,MIR4755,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31973521 32592373 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31976515 32592373 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31976515 34336098 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,ACTL10,AHCY,ASIP,C20orf144,C20orf173,CBFA2T2,CDK5RAP1,CEP250,CHMP4B,CPNE1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,NFS1,PIGU,PROCR,PXMP4,RALY,RBM12,RBM39,ROMO1,SNTA1,SPAG4,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 31983688 32592373 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31985154 33000409 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,EIF2S2,ITCH,MIR4755,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31988101 32592373 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31988101 32627610 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31988101 32630433 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CDK5RAP1,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31992057 32692106 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,EIF2S2,MIR4755,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31995087 32592373 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31995087 32604364 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31995087 32627610 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 31995087 32630433 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,NECAB3,PXMP4,RALY,SNTA1,ZNF341 chr20 32007501 34029460 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,PIGU,PROCR,PXMP4,RALY,SNTA1,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 32007953 34029460 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,PIGU,PROCR,PXMP4,RALY,SNTA1,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 32016276 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,ACTL10,AHCY,ASIP,C20orf144,C20orf173,CBFA2T2,CEP250,CHMP4B,CPNE1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,NFS1,PIGU,PROCR,PXMP4,RALY,RBM12,RBM39,ROMO1,SNTA1,SPAG4,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 32016629 32017043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNTA1 chr20 32025327 33579567 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MYH7B,NCOA6,NECAB3,PIGU,PXMP4,RALY,SNTA1,TP53INP2,ZNF341 chr20 32045146 32131697 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CBFA2T2 chr20 32045146 32131697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBFA2T2 chr20 32045146 32131697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBFA2T2 chr20 32045392 32136336 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CBFA2T2 chr20 32045393 32131726 Gain and loss Pancreatic cancer SNP array 17952125 CBFA2T2 chr20 32070055 32751374 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,EIF2S2,MIR4755,NECAB3,PXMP4,RALY,ZNF341 chr20 32070493 33277259 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NECAB3,PIGU,PXMP4,RALY,ZNF341 chr20 32070493 33353296 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NCOA6,NECAB3,PIGU,PXMP4,RALY,TP53INP2,ZNF341 chr20 32070961 32751374 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,EIF2S2,MIR4755,NECAB3,PXMP4,RALY,ZNF341 chr20 32077643 32077729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 32100000 34400000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ACSS2,ACTL10,AHCY,ASIP,C20orf144,C20orf173,CBFA2T2,CEP250,CHMP4B,CPNE1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NECAB3,NFS1,PHF20,PIGU,PROCR,PXMP4,RALY,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC,ZNF341 chr20 32100000 42100000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AAR2,ACSS2,ACTL10,ACTR5,ADIG,AHCY,ARHGAP40,ASIP,BLCAP,BPI,C20orf118,C20orf132,C20orf144,C20orf152,C20orf173,C20orf24,CBFA2T2,CEP250,CHD6,CHMP4B,CPNE1,CTNNBL1,DHX35,DLGAP4,DSN1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,EMILIN3,EPB41L1,ERGIC3,FAM83C,FAM83D,FER1L4,GDF5,GGT7,GHRH,GSS,HMGB3P1,ITCH,KIAA1755,LBP,LINC00489,LINC00657,LOC100287792,LOC339568,LOC388796,LPIN3,MAFB,MANBAL,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,MYL9,NCOA6,NDRG3,NECAB3,NFS1,NNAT,PHF20,PIGU,PLCG1,PPP1R16B,PROCR,PTPRT,PXMP4,RALGAPB,RALY,RBL1,RBM12,RBM39,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SPAG4,SRC,SRSF6,TGIF2,TGIF2-C20ORF24,TGM2,TOP1,TP53INP2,TRPC4AP,TTI1,UQCC,VSTM2L,ZHX3,ZNF341 chr20 32100000 46400000 Amplification Ovarian cancer Affymetrix 50K XbaI SNP mapping arrays, Affymetrix U133plus2.0 arrays 19193619 AAR2,ACOT8,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,ARHGAP40,ASIP,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf144,C20orf152,C20orf173,C20orf24,CBFA2T2,CD40,CDH22,CEP250,CHD6,CHMP4B,CPNE1,CTNNBL1,CTSA,DBNDD2,DHX35,DLGAP4,DNTTIP1,DSN1,DYNLRB1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM83C,FAM83D,FER1L4,FITM2,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HMGB3P1,HNF4A,IFT52,ITCH,JPH2,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MATN4,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MKRN7P,MMP24,MMP9,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NECAB3,NEURL2,NFS1,NNAT,OCSTAMP,PABPC1L,PCIF1,PHF20,PI3,PIGT,PIGU,PKIG,PLCG1,PLTP,PPP1R16B,PROCR,PTPRT,PXMP4,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,RIMS4,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLPI,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNX21,SOGA1,SPAG4,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TRPC4AP,TTI1,TTPAL,UBE2C,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF341,ZNF663,ZSWIM1,ZSWIM3 chr20 32106257 32792677 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,EIF2S2,MIR4755,NECAB3,PXMP4,RALY,ZNF341 chr20 32125339 32125439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBFA2T2 chr20 32139775 32163746 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CBFA2T2 chr20 32139776 32163746 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CBFA2T2 chr20 32139776 32163746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBFA2T2 chr20 32139776 32163746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBFA2T2 chr20 32140898 32163715 Gain and loss Pancreatic cancer SNP array 17952125 CBFA2T2 chr20 32173377 33259625 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NECAB3,PIGU,PXMP4,RALY,ZNF341 chr20 32173937 32174694 Gain and loss Pancreatic cancer SNP array 17952125 CBFA2T2 chr20 32173937 32174757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBFA2T2 chr20 32194506 33298838 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NECAB3,PIGU,PXMP4,RALY,TP53INP2,ZNF341 chr20 32194506 33341388 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NCOA6,NECAB3,PIGU,PXMP4,RALY,TP53INP2,ZNF341 chr20 32194506 33499436 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,GGT7,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR644A,NCOA6,NECAB3,PIGU,PXMP4,RALY,TP53INP2,ZNF341 chr20 32207695 32207795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBFA2T2 chr20 32210547 32768817 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,C20orf144,CBFA2T2,CHMP4B,E2F1,EIF2S2,MIR4755,NECAB3,PXMP4,RALY,ZNF341 chr20 32210547 33353296 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NCOA6,NECAB3,PIGU,PXMP4,RALY,TP53INP2,ZNF341 chr20 32224873 33155763 LOH Normal High-resolution SNP genotyping 21211785 ACTL10,AHCY,ASIP,C20orf144,CBFA2T2,CHMP4B,DYNLRB1,E2F1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NECAB3,PIGU,PXMP4,RALY,ZNF341 chr20 32231405 32232405 Gain Osteosarcoma References 21215367 CBFA2T2 chr20 32234684 32234784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBFA2T2 chr20 32243712 32290773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACTL10,C20orf144,E2F1,NECAB3,PXMP4 chr20 32252004 32296412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACTL10,E2F1,NECAB3,PXMP4 chr20 32252416 32252503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NECAB3 chr20 32256245 32256277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTL10,NECAB3 chr20 32263293 32274210 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 E2F1 chr20 32264962 32267359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 E2F1 chr20 32264962 32267365 Gain and loss Pancreatic cancer SNP array 17952125 E2F1 chr20 32277701 32284900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 32278678 32287509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 32279590 32282886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 32287220 32288220 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 32289303 33499436 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,AHCY,ASIP,CHMP4B,DYNLRB1,EIF2S2,GGT7,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR644A,NCOA6,PIGU,PXMP4,RALY,TP53INP2,ZNF341 chr20 32290830 33326748 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,CHMP4B,DYNLRB1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,NCOA6,PIGU,PXMP4,RALY,TP53INP2,ZNF341 chr20 32290830 33499436 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,AHCY,ASIP,CHMP4B,DYNLRB1,EIF2S2,GGT7,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR644A,NCOA6,PIGU,PXMP4,RALY,TP53INP2,ZNF341 chr20 32297420 32298004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PXMP4 chr20 32308550 32861848 LOH Normal High-resolution SNP genotyping 21211785 ASIP,CHMP4B,EIF2S2,MIR4755,RALY,ZNF341 chr20 32311832 32320809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF341 chr20 32311832 32320809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF341 chr20 32311832 32320809 Gain and loss Pancreatic cancer SNP array 17952125 ZNF341 chr20 32311832 32320809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF341 chr20 3231506 3231585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf194 chr20 32330016 32374994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF341 chr20 32331737 32354784 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 ZNF341 chr20 32331737 32354811 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF341 chr20 32331737 32354811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF341 chr20 32331737 32354811 Gain and loss Pancreatic cancer SNP array 17952125 ZNF341 chr20 32331737 32354811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF341 chr20 32365341 32915981 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,CHMP4B,EIF2S2,MIR4755,RALY,ZNF341 chr20 32365341 33000409 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,CHMP4B,EIF2S2,ITCH,MIR4755,RALY,ZNF341 chr20 32372113 33000409 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,CHMP4B,EIF2S2,ITCH,MIR4755,RALY,ZNF341 chr20 32372113 33144848 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,CHMP4B,DYNLRB1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,RALY,ZNF341 chr20 32399138 32399252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHMP4B chr20 32414722 32562858 Copy number Lung cancer - 20668451 CHMP4B chr20 32414722 32562858 Gain or loss Breast cancer - 20668451 CHMP4B chr20 32414722 32562858 Gain or loss Cancer - 20668451 CHMP4B chr20 32414722 32562858 Gain or loss Lung cancer - 20668451 CHMP4B chr20 32414722 32562858 Gain or loss Ovarian cancer - 20668451 CHMP4B chr20 32414722 32562858 Gain or loss Pancreas cancer - 20668451 CHMP4B chr20 32414722 32562858 Gain or loss Prostate cancer - 20668451 CHMP4B chr20 32414745 32562858 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHMP4B chr20 32414745 32562858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHMP4B chr20 32414745 32562858 Gain and loss Pancreatic cancer SNP array 17952125 CHMP4B chr20 32414745 32562858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHMP4B chr20 32419801 32480019 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CHMP4B chr20 32423500 33269924 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AHCY,ASIP,CHMP4B,DYNLRB1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,PIGU,RALY chr20 32430333 32430435 Gain and loss Pancreatic cancer SNP array 17952125 CHMP4B chr20 32430333 32430435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHMP4B chr20 32435630 32435732 Gain and loss Pancreatic cancer SNP array 17952125 CHMP4B chr20 32435632 32435732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHMP4B chr20 32435636 32435732 Gain and loss Pancreatic cancer SNP array 17952125 CHMP4B chr20 32453616 32454163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32473920 33605249 Deletion Myelodysplastic syndrome - 21251322 ACSS2,AHCY,ASIP,DYNLRB1,EIF2S2,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR4755,MIR499A,MIR499B,MIR644A,MYH7B,NCOA6,PIGU,RALY,TP53INP2,TRPC4AP chr20 32517791 32517884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32527390 32527940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 32527390 32527940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32550024 32550104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 32555745 50659503 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AAR2,ACOT8,ACSS2,ACTR5,ADA,ADIG,ADNP,AHCY,ARFGEF2,ARHGAP40,ASIP,ATP9A,B4GALT5,BCAS4,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf152,C20orf173,C20orf24,CD40,CDH22,CEBPB,CEP250,CHD6,CPNE1,CSE1L,CTNNBL1,CTSA,DBNDD2,DDX27,DHX35,DLGAP4,DNTTIP1,DPM1,DSN1,DYNLRB1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HMGB3P1,HNF4A,IFT52,ITCH,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MATN4,MIR3194,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MIR645,MKRN7P,MMP24,MMP9,MOCS3,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NEURL2,NFATC2,NFS1,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PHF20,PI3,PIGT,PIGU,PKIG,PLCG1,PLTP,PPP1R16B,PREX1,PROCR,PTGIS,PTPN1,PTPRT,R3HDML,RALGAPB,RALY,RBL1,RBM12,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TRPC4AP,TTI1,TTPAL,UBE2C,UBE2V1,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 32566881 32567355 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 32566881 32567355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32567865 32592422 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALY chr20 32567865 32592422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RALY chr20 32567865 32592422 Gain and loss Pancreatic cancer SNP array 17952125 RALY chr20 32567865 32592422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALY chr20 32577976 32578072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32577978 32578072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 32579473 32579805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 32583039 32627697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RALY chr20 32598353 32611810 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RALY chr20 32598353 32611810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RALY chr20 32598353 32611810 Gain and loss Pancreatic cancer SNP array 17952125 RALY chr20 32598353 32611810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RALY chr20 32610001 32614500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RALY chr20 32612006 32728750 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EIF2S2,MIR4755,RALY chr20 32612007 32728750 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EIF2S2,MIR4755,RALY chr20 32612007 32728750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2S2,MIR4755,RALY chr20 32612007 32728750 Gain and loss Pancreatic cancer SNP array 17952125 EIF2S2,MIR4755,RALY chr20 32612007 32728750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2S2,MIR4755,RALY chr20 32613777 32648911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4755,RALY chr20 32614251 32731132 Gain Stenocardia MACArray Karyo 89K BAC-chips 21860640 EIF2S2,MIR4755,RALY chr20 32614251 32731132 Gain Vasospasm MACArray Karyo 89K BAC-chips 21860640 EIF2S2,MIR4755,RALY chr20 32614685 33282719 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,DYNLRB1,EIF2S2,ITCH,MAP1LC3A,MIR4755,MIR644A,PIGU,RALY chr20 32655552 32655637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALY chr20 32677014 32677114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF2S2 chr20 32685083 33633518 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,AHCY,ASIP,DYNLRB1,EIF2S2,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR499A,MIR499B,MIR644A,MYH7B,NCOA6,PIGU,TP53INP2,TRPC4AP chr20 32685083 34029460 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,AHCY,ASIP,DYNLRB1,EDEM2,EIF2S2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,PIGU,PROCR,TP53INP2,TRPC4AP,UQCC chr20 32688855 32688955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF2S2 chr20 32694611 34336098 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,AHCY,ASIP,C20orf173,CEP250,CPNE1,DYNLRB1,EDEM2,EIF2S2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NFS1,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 32705492 32707916 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr20 32705988 32707384 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 32740153 32740443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32751001 32763500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 32751374 33351147 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,DYNLRB1,ITCH,MAP1LC3A,MIR644A,NCOA6,PIGU,TP53INP2 chr20 32755804 32764904 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 32755804 32764904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32755804 32764904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32755809 32764898 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 32758241 32871072 Copy number gain Normal High-resolution SNP genotyping 21211785 AHCY,ASIP chr20 32758241 33351147 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,DYNLRB1,ITCH,MAP1LC3A,MIR644A,NCOA6,PIGU,TP53INP2 chr20 32764793 32766792 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr20 32766239 32877094 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AHCY,ASIP chr20 32766239 32877094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHCY,ASIP chr20 32766239 32877094 Gain and loss Pancreatic cancer SNP array 17952125 AHCY,ASIP chr20 32766239 32877094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHCY,ASIP chr20 32773040 32773095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 32789483 32823214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 32806232 33638378 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,AHCY,ASIP,DYNLRB1,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR499A,MIR499B,MIR644A,MYH7B,NCOA6,PIGU,TP53INP2,TRPC4AP chr20 32806232 33643853 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,AHCY,ASIP,DYNLRB1,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR499A,MIR499B,MIR644A,MYH7B,NCOA6,PIGU,TP53INP2,TRPC4AP chr20 32811101 33353296 LOH Normal High-resolution SNP genotyping 21211785 AHCY,ASIP,DYNLRB1,ITCH,MAP1LC3A,MIR644A,NCOA6,PIGU,TP53INP2 chr20 32824516 32824616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 32825935 32836702 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr20 32829415 32830190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 32829415 32830190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 32864751 32871072 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AHCY chr20 32883491 32924318 Gain and loss Pancreatic cancer SNP array 17952125 AHCY chr20 32885039 32885926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHCY chr20 32885108 32885926 Gain and loss Pancreatic cancer SNP array 17952125 AHCY chr20 3288683 3288788 Gain and loss Pancreatic cancer SNP array 17952125 C20orf194 chr20 3288683 3288789 Gain and loss Pancreatic cancer SNP array 17952125 C20orf194 chr20 3288683 3288789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf194 chr20 32896183 32924322 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AHCY chr20 32896184 32924322 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AHCY chr20 32896184 32924322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHCY chr20 32896184 32924322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHCY chr20 3290527 3290971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf194 chr20 32926406 32979423 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITCH chr20 32926406 32979423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITCH chr20 32926406 32979423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITCH chr20 32926502 32979423 Gain and loss Pancreatic cancer SNP array 17952125 ITCH chr20 32929037 33469715 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,DYNLRB1,GGT7,HMGB3P1,ITCH,MAP1LC3A,MIR644A,NCOA6,PIGU,TP53INP2 chr20 32979896 33007262 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ITCH chr20 32979896 33007262 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ITCH chr20 32979898 33007262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITCH chr20 32979898 33007262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITCH chr20 32979898 33007262 Gain and loss Pancreatic cancer SNP array 17952125 ITCH chr20 32979898 33007262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITCH chr20 32993701 33646435 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,DYNLRB1,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR499A,MIR499B,MIR644A,MYH7B,NCOA6,PIGU,TP53INP2,TRPC4AP chr20 33022930 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,DYNLRB1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,ITCH,MAP1LC3A,MIR499A,MIR499B,MIR644A,MMP24,MYH7B,NCOA6,NFS1,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33026867 33053901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITCH chr20 33026867 33053901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITCH chr20 33026867 33053901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITCH chr20 33026878 33053900 Gain and loss Pancreatic cancer SNP array 17952125 ITCH chr20 33029001 33056500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITCH,MIR644A chr20 33029966 33062189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITCH,MIR644A chr20 33041840 33041961 Gain and loss Pancreatic cancer SNP array 17952125 ITCH chr20 33041840 33041961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITCH chr20 33053876 33144279 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DYNLRB1,ITCH,MAP1LC3A,MIR644A chr20 33053876 33144279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYNLRB1,ITCH,MAP1LC3A,MIR644A chr20 33053876 33144279 Gain and loss Pancreatic cancer SNP array 17952125 DYNLRB1,ITCH,MAP1LC3A,MIR644A chr20 33053876 33144279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYNLRB1,ITCH,MAP1LC3A,MIR644A chr20 33056501 33062000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITCH chr20 33080038 33093718 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ITCH chr20 33081781 33081880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITCH chr20 33081781 33081883 Gain and loss Pancreatic cancer SNP array 17952125 ITCH chr20 33081781 33081884 Gain and loss Pancreatic cancer SNP array 17952125 ITCH chr20 33084722 47129739 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AAR2,ACOT8,ACSS2,ACTR5,ADA,ADIG,ARHGAP40,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf152,C20orf173,C20orf24,CD40,CDH22,CEP250,CHD6,CPNE1,CTNNBL1,CTSA,DBNDD2,DHX35,DLGAP4,DNTTIP1,DSN1,DYNLRB1,EDEM2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM83C,FAM83D,FER1L4,FITM2,GDAP1L1,GDF5,GGT7,GHRH,GSS,GTSF1L,HMGB3P1,HNF4A,IFT52,ITCH,JPH2,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00494,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MAP1LC3A,MATN4,MIR3616,MIR3646,MIR499A,MIR499B,MKRN7P,MMP24,MMP9,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NEURL2,NFS1,NNAT,OCSTAMP,PABPC1L,PCIF1,PHF20,PI3,PIGT,PIGU,PKIG,PLCG1,PLTP,PPP1R16B,PROCR,PTPRT,R3HDML,RALGAPB,RBL1,RBM12,RBM39,RBPJL,RIMS4,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLPI,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNX21,SOGA1,SPAG4,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TRPC4AP,TTI1,TTPAL,UBE2C,UQCC,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 33085317 33085637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITCH chr20 33085317 33085638 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITCH chr20 33111481 33111581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYNLRB1 chr20 3312876 3313086 Gain and loss Pancreatic cancer SNP array 17952125 C20orf194 chr20 3312876 3313086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf194 chr20 3312876 3313087 Gain and loss Pancreatic cancer SNP array 17952125 C20orf194 chr20 33166831 33198804 Gain and loss Pancreatic cancer SNP array 17952125 PIGU chr20 33166842 33198828 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIGU chr20 33166842 33198828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGU chr20 33166842 33198828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGU chr20 33168600 33168671 Gain and loss Pancreatic cancer SNP array 17952125 PIGU chr20 33168600 33168671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGU chr20 33178977 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33180902 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33180902 34431154 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PHF20,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33198001 33199000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PIGU chr20 33222388 33228826 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIGU chr20 33222388 33228826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGU chr20 33222388 33228826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGU chr20 33223434 33228826 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PIGU chr20 33223435 33228825 Gain and loss Pancreatic cancer SNP array 17952125 PIGU chr20 33223435 33228826 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 PIGU chr20 33224899 33236600 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PIGU chr20 33224899 33236600 Copy number gain Normal High-resolution SNP genotyping 21211785 PIGU chr20 3323580 3323917 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C20orf194 chr20 33246770 33246887 Gain and loss Pancreatic cancer SNP array 17952125 PIGU chr20 33246770 33246887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGU chr20 33246770 33246889 Gain and loss Pancreatic cancer SNP array 17952125 PIGU chr20 33259340 34092592 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,CEP250,EDEM2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,PIGU,PROCR,TP53INP2,TRPC4AP,UQCC chr20 33259340 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33259396 34105283 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,CEP250,EDEM2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,PIGU,PROCR,TP53INP2,TRPC4AP,UQCC chr20 33259396 34187719 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,PIGU,PROCR,TP53INP2,TRPC4AP,UQCC chr20 33259396 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33259396 34320742 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33262984 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PIGU,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33269450 33269788 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 33269473 33269649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 33269473 33269649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 33269924 33597572 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACSS2,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MYH7B,NCOA6,TP53INP2,TRPC4AP chr20 33278095 33328218 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NCOA6,TP53INP2 chr20 33278095 33328218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCOA6,TP53INP2 chr20 33278095 33328218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOA6,TP53INP2 chr20 33278116 33328218 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NCOA6,TP53INP2 chr20 33278117 33328212 Gain and loss Pancreatic cancer SNP array 17952125 NCOA6,TP53INP2 chr20 33281950 33537072 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACSS2,GGT7,GSS,HMGB3P1,NCOA6,TP53INP2 chr20 33300007 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PROCR,RBM12,RBM39,ROMO1,SPAG4,TP53INP2,TRPC4AP,UQCC chr20 33309001 34029460 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,EDEM2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,PROCR,TRPC4AP,UQCC chr20 33310733 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33311921 34393466 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33318501 33337500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA6 chr20 33322691 35656773 LOH Normal High-resolution SNP genotyping 21211785 AAR2,ACSS2,C20orf118,C20orf152,C20orf173,C20orf24,CEP250,CPNE1,DLGAP4,DSN1,EDEM2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,LINC00657,MIR499A,MIR499B,MMP24,MYH7B,MYL9,NCOA6,NDRG3,NFS1,PHF20,PROCR,RBL1,RBM12,RBM39,ROMO1,SAMHD1,SCAND1,SLA2,SOGA1,SPAG4,TGIF2,TGIF2-C20ORF24,TRPC4AP,UQCC chr20 33323040 35656773 LOH Normal High-resolution SNP genotyping 21211785 AAR2,ACSS2,C20orf118,C20orf152,C20orf173,C20orf24,CEP250,CPNE1,DLGAP4,DSN1,EDEM2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,LINC00657,MIR499A,MIR499B,MMP24,MYH7B,MYL9,NCOA6,NDRG3,NFS1,PHF20,PROCR,RBL1,RBM12,RBM39,ROMO1,SAMHD1,SCAND1,SLA2,SOGA1,SPAG4,TGIF2,TGIF2-C20ORF24,TRPC4AP,UQCC chr20 33329287 34388667 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33330138 33336008 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NCOA6 chr20 33330139 33335920 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NCOA6 chr20 33330139 33336008 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NCOA6 chr20 33330139 33336008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCOA6 chr20 33330139 33336008 Gain and loss Pancreatic cancer SNP array 17952125 NCOA6 chr20 33330139 33336008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOA6 chr20 33336470 33336797 Gain and loss Pancreatic cancer SNP array 17952125 NCOA6 chr20 33336950 33343521 Gain and loss Pancreatic cancer SNP array 17952125 NCOA6 chr20 33336950 33343639 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NCOA6 chr20 33336950 33343639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCOA6 chr20 33336950 33343639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOA6 chr20 33337501 33340000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA6 chr20 33338166 34029460 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,EDEM2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,PROCR,TRPC4AP,UQCC chr20 33340001 33358500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA6 chr20 33346901 34114614 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,EDEM2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,PROCR,TRPC4AP,UQCC chr20 33349048 34105283 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,CEP250,EDEM2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,PROCR,TRPC4AP,UQCC chr20 33349048 34114614 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,EDEM2,EIF6,FAM83C,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,PROCR,TRPC4AP,UQCC chr20 33349593 34615011 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf152,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SCAND1,SPAG4,TRPC4AP,UQCC chr20 33349593 34897690 LOH Normal High-resolution SNP genotyping 21211785 AAR2,ACSS2,C20orf152,C20orf173,CEP250,CPNE1,EDEM2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,GDF5,GGT7,GSS,HMGB3P1,LINC00657,MIR499A,MIR499B,MMP24,MYH7B,NCOA6,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SCAND1,SPAG4,TRPC4AP,UQCC chr20 33353783 33463248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSS2,GGT7,HMGB3P1,NCOA6 chr20 33353783 33463248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS2,GGT7,HMGB3P1,NCOA6 chr20 33353783 33463359 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACSS2,GGT7,HMGB3P1,NCOA6 chr20 33353785 33624703 Gain and loss Pancreatic cancer SNP array 17952125 ACSS2,GGT7,GSS,HMGB3P1,MIR499A,MIR499B,MYH7B,NCOA6,TRPC4AP chr20 33360823 33391947 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCOA6 chr20 33372659 62376958 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AAR2,ACOT8,ACSS2,ACTR5,ADA,ADIG,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,C20orf111,C20orf118,C20orf132,C20orf151,C20orf152,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CEP250,CHD6,CHRNA4,COL20A1,COL9A3,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DLGAP4,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,EDEM2,EDN3,EEF1A2,EIF6,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FER1L4,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GDF5,GGT7,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GSS,GTPBP5,GTSF1L,HAR1A,HAR1B,HMGB3P1,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR645,MKRN7P,MMP24,MMP9,MOCS3,MTRNR2L3,MYBL2,MYH7B,MYL9,NCOA3,NCOA5,NCOA6,NDRG3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PROCR,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RALGAPB,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TRPC4AP,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 33431328 33431411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 33432695 33433024 Gain and loss Pancreatic cancer SNP array 17952125 GGT7 chr20 33432711 33433024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GGT7 chr20 33432778 33433024 Gain and loss Pancreatic cancer SNP array 17952125 GGT7 chr20 33460905 33460963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 33469855 34105283 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,CEP250,EDEM2,EIF6,FAM83C,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,PROCR,TRPC4AP,UQCC chr20 33476739 34848073 LOH Normal High-resolution SNP genotyping 21211785 AAR2,ACSS2,C20orf152,C20orf173,CEP250,CPNE1,EDEM2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,GDF5,GSS,LINC00657,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SCAND1,SPAG4,TRPC4AP,UQCC chr20 33484241 33486662 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACSS2 chr20 33484241 33486662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS2 chr20 33484559 33505982 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACSS2 chr20 33484559 33505982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSS2 chr20 33484559 33505982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS2 chr20 33484563 33489441 Gain and loss Pancreatic cancer SNP array 17952125 ACSS2 chr20 33485705 33494603 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACSS2 chr20 33489552 34021785 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,EDEM2,EIF6,FAM83C,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,PROCR,TRPC4AP,UQCC chr20 33489552 34029460 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,EDEM2,EIF6,FAM83C,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,PROCR,TRPC4AP,UQCC chr20 33489552 34058378 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,CEP250,EDEM2,EIF6,FAM83C,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,PROCR,TRPC4AP,UQCC chr20 33489552 34114614 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,EDEM2,EIF6,FAM83C,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,PROCR,TRPC4AP,UQCC chr20 33489552 34148608 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,PROCR,TRPC4AP,UQCC chr20 33489552 34317223 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33489552 34431154 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33489552 34914815 LOH Normal High-resolution SNP genotyping 21211785 AAR2,ACSS2,C20orf152,C20orf173,CEP250,CPNE1,EDEM2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,GDF5,GSS,LINC00657,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SCAND1,SPAG4,TRPC4AP,UQCC chr20 33489552 34919218 LOH Normal High-resolution SNP genotyping 21211785 AAR2,ACSS2,C20orf152,C20orf173,CEP250,CPNE1,EDEM2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,GDF5,GSS,LINC00657,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SCAND1,SPAG4,TRPC4AP,UQCC chr20 33490017 34317223 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33491356 34312117 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33491356 34317223 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33494603 34114614 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,EDEM2,EIF6,FAM83C,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,PROCR,TRPC4AP,UQCC chr20 33494603 34282544 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PROCR,RBM12,SPAG4,TRPC4AP,UQCC chr20 33495250 34105283 LOH Normal High-resolution SNP genotyping 21211785 ACSS2,CEP250,EDEM2,EIF6,FAM83C,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,PROCR,TRPC4AP,UQCC chr20 33505190 33505333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS2 chr20 33506564 33563216 Gain and loss Pancreatic cancer SNP array 17952125 ACSS2,GSS,MYH7B chr20 33506564 33563218 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACSS2,GSS,MYH7B chr20 33506564 33563218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACSS2,GSS,MYH7B chr20 33506564 33563218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACSS2,GSS,MYH7B chr20 33537072 34317223 LOH Normal High-resolution SNP genotyping 21211785 C20orf173,CEP250,CPNE1,EDEM2,EIF6,ERGIC3,FAM83C,FER1L4,GDF5,GSS,MIR499A,MIR499B,MMP24,MYH7B,NFS1,PROCR,RBM12,RBM39,ROMO1,SPAG4,TRPC4AP,UQCC chr20 33555991 33555991 Copy number Prostate cancer Illumina GA II sequencer 21307934 MYH7B chr20 33560904 33560999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH7B chr20 33561020 33594772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR499A,MIR499B,MYH7B,TRPC4AP chr20 33566738 33566827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH7B chr20 33578213 33580862 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR499A,MIR499B,MYH7B chr20 33578213 33580862 Gain and loss Pancreatic cancer SNP array 17952125 MIR499A,MIR499B,MYH7B chr20 33578213 33580895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR499A,MIR499B,MYH7B chr20 33578213 33580895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR499A,MIR499B,MYH7B chr20 33582469 33582569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH7B chr20 33587158 33608818 Gain and loss Pancreatic cancer SNP array 17952125 MYH7B,TRPC4AP chr20 33592268 33592367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPC4AP chr20 33593191 33608819 Gain or loss Breast cancer - 20668451 TRPC4AP chr20 33593191 33608819 Gain or loss Cancer - 20668451 TRPC4AP chr20 33593191 33608819 Gain or loss Lung cancer - 20668451 TRPC4AP chr20 33593191 33608819 Gain or loss Ovarian cancer - 20668451 TRPC4AP chr20 33593191 33608819 Gain or loss Pancreas cancer - 20668451 TRPC4AP chr20 33593191 33608819 Gain or loss Prostate cancer - 20668451 TRPC4AP chr20 33593192 33608818 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRPC4AP chr20 33593192 33608818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33593192 33608818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33595589 33595906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33607001 33616500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPC4AP chr20 33609922 33651008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33609922 33651008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33609922 33658898 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRPC4AP chr20 33609924 33636612 Gain and loss Pancreatic cancer SNP array 17952125 TRPC4AP chr20 33615386 33618360 Copy number gain Normal High-resolution SNP genotyping 21211785 TRPC4AP chr20 33616501 33650000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPC4AP chr20 33632778 33636508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRPC4AP chr20 33637689 34848073 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,C20orf173,CEP250,CPNE1,EDEM2,EIF6,EPB41L1,ERGIC3,FAM83C,FER1L4,GDF5,LINC00657,MMP24,NFS1,PHF20,PROCR,RBM12,RBM39,ROMO1,SCAND1,SPAG4,TRPC4AP,UQCC chr20 33639660 33639943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33643853 33753671 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EDEM2,TRPC4AP chr20 33643853 33753671 Copy number gain Normal High-resolution SNP genotyping 21211785 EDEM2,TRPC4AP chr20 33650001 33654000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPC4AP chr20 33650902 33658824 Gain and loss Pancreatic cancer SNP array 17952125 TRPC4AP chr20 33652038 33658824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33652038 33658824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33654001 33667000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPC4AP chr20 33667001 33671000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPC4AP chr20 33667222 33672379 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TRPC4AP chr20 33667223 33672379 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRPC4AP chr20 33667223 33672379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 33667223 33672379 Gain and loss Pancreatic cancer SNP array 17952125 TRPC4AP chr20 33667223 33672379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC4AP chr20 336694 359610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 336697 359610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 336697 359610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 336708 359610 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 336708 359610 Gain or loss Cancer - 20668451 NOT_FOUND chr20 336708 359610 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 336708 359610 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 336708 359610 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 336708 359610 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 336709 359610 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 33677380 33716262 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 EDEM2,TRPC4AP chr20 33677380 33716262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EDEM2,TRPC4AP chr20 33677380 33716262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EDEM2,TRPC4AP chr20 33677382 33716262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EDEM2,TRPC4AP chr20 33677382 33716262 Gain and loss Pancreatic cancer SNP array 17952125 EDEM2,TRPC4AP chr20 33694476 33694802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 33694479 33694798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 33694485 33694705 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 33698664 33698766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 33700293 33716262 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 EDEM2 chr20 33700302 33716252 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EDEM2 chr20 33720025 33750688 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EDEM2 chr20 33720025 33750688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EDEM2 chr20 33720025 33750688 Gain and loss Pancreatic cancer SNP array 17952125 EDEM2 chr20 33720025 33750688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EDEM2 chr20 33750608 33752320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 33750608 33752320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 33750608 33752320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 33750645 33752316 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr20 33750741 33752315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 33754944 33793607 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PROCR chr20 33754945 33793607 Gain and loss Pancreatic cancer SNP array 17952125 PROCR chr20 33754946 33793648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PROCR chr20 33754946 33793648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PROCR chr20 33754955 33793607 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PROCR chr20 33770851 33770951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 33804117 33805013 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 33804249 33804890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 33821121 33821211 Gain and loss Pancreatic cancer SNP array 17952125 MMP24 chr20 33821121 33821211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP24 chr20 33821121 33821220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP24 chr20 33823337 34001702 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EIF6,FAM83C,MMP24,UQCC chr20 33823337 34001702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF6,FAM83C,MMP24,UQCC chr20 33823337 34001702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF6,FAM83C,MMP24,UQCC chr20 33823353 34034684 Gain and loss Pancreatic cancer SNP array 17952125 EIF6,FAM83C,GDF5,MMP24,UQCC chr20 33832459 33891897 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EIF6,FAM83C,MMP24,UQCC chr20 33879828 33904094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM83C,UQCC chr20 33900000 37100000 Amplification Biliary cancer Array CGH 19435499 AAR2,BLCAP,BPI,C20orf118,C20orf132,C20orf152,C20orf173,C20orf24,CEP250,CPNE1,CTNNBL1,DLGAP4,DSN1,EPB41L1,ERGIC3,FER1L4,GDF5,GHRH,KIAA1755,LBP,LINC00489,LINC00657,LOC100287792,LOC388796,MANBAL,MYL9,NDRG3,NFS1,NNAT,PHF20,RBL1,RBM12,RBM39,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SPAG4,SRC,TGIF2,TGIF2-C20ORF24,TGM2,TTI1,UQCC,VSTM2L chr20 33900000 37100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AAR2,BLCAP,BPI,C20orf118,C20orf132,C20orf152,C20orf173,C20orf24,CEP250,CPNE1,CTNNBL1,DLGAP4,DSN1,EPB41L1,ERGIC3,FER1L4,GDF5,GHRH,KIAA1755,LBP,LINC00489,LINC00657,LOC100287792,LOC388796,MANBAL,MYL9,NDRG3,NFS1,NNAT,PHF20,RBL1,RBM12,RBM39,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SPAG4,SRC,TGIF2,TGIF2-C20ORF24,TGM2,TTI1,UQCC,VSTM2L chr20 33900000 37100000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AAR2,BLCAP,BPI,C20orf118,C20orf132,C20orf152,C20orf173,C20orf24,CEP250,CPNE1,CTNNBL1,DLGAP4,DSN1,EPB41L1,ERGIC3,FER1L4,GDF5,GHRH,KIAA1755,LBP,LINC00489,LINC00657,LOC100287792,LOC388796,MANBAL,MYL9,NDRG3,NFS1,NNAT,PHF20,RBL1,RBM12,RBM39,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SPAG4,SRC,TGIF2,TGIF2-C20ORF24,TGM2,TTI1,UQCC,VSTM2L chr20 33900000 37100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AAR2,BLCAP,BPI,C20orf118,C20orf132,C20orf152,C20orf173,C20orf24,CEP250,CPNE1,CTNNBL1,DLGAP4,DSN1,EPB41L1,ERGIC3,FER1L4,GDF5,GHRH,KIAA1755,LBP,LINC00489,LINC00657,LOC100287792,LOC388796,MANBAL,MYL9,NDRG3,NFS1,NNAT,PHF20,RBL1,RBM12,RBM39,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SPAG4,SRC,TGIF2,TGIF2-C20ORF24,TGM2,TTI1,UQCC,VSTM2L chr20 33900000 37100000 Loss Urothelial cell carcinoma FISH 18451213 AAR2,BLCAP,BPI,C20orf118,C20orf132,C20orf152,C20orf173,C20orf24,CEP250,CPNE1,CTNNBL1,DLGAP4,DSN1,EPB41L1,ERGIC3,FER1L4,GDF5,GHRH,KIAA1755,LBP,LINC00489,LINC00657,LOC100287792,LOC388796,MANBAL,MYL9,NDRG3,NFS1,NNAT,PHF20,RBL1,RBM12,RBM39,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SPAG4,SRC,TGIF2,TGIF2-C20ORF24,TGM2,TTI1,UQCC,VSTM2L chr20 33900000 41600000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AAR2,ACTR5,ADIG,ARHGAP40,BLCAP,BPI,C20orf118,C20orf132,C20orf152,C20orf173,C20orf24,CEP250,CHD6,CPNE1,CTNNBL1,DHX35,DLGAP4,DSN1,EMILIN3,EPB41L1,ERGIC3,FAM83D,FER1L4,GDF5,GHRH,KIAA1755,LBP,LINC00489,LINC00657,LOC100287792,LOC339568,LOC388796,LPIN3,MAFB,MANBAL,MYL9,NDRG3,NFS1,NNAT,PHF20,PLCG1,PPP1R16B,PTPRT,RALGAPB,RBL1,RBM12,RBM39,ROMO1,RPN2,RPRD1B,SAMHD1,SCAND1,SLA2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SPAG4,SRC,TGIF2,TGIF2-C20ORF24,TGM2,TOP1,TTI1,UQCC,VSTM2L,ZHX3 chr20 33900000 62435964 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 AAR2,ACOT8,ACTR5,ADA,ADIG,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,C20orf111,C20orf118,C20orf132,C20orf151,C20orf152,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CEP250,CHD6,CHRNA4,COL20A1,COL9A3,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DLGAP4,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,EDN3,EEF1A2,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83D,FER1L4,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GDF5,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RALGAPB,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 33901530 34941092 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,C20orf173,CEP250,CPNE1,EPB41L1,ERGIC3,FER1L4,GDF5,LINC00657,NFS1,PHF20,RBM12,RBM39,ROMO1,SCAND1,SPAG4,UQCC chr20 33902010 33902251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UQCC chr20 33904588 33904700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UQCC chr20 33904589 33904700 Gain and loss Pancreatic cancer SNP array 17952125 UQCC chr20 33904590 33904700 Gain and loss Pancreatic cancer SNP array 17952125 UQCC chr20 33909000 62377000 Amplification Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AAR2,ACOT8,ACTR5,ADA,ADIG,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,C20orf111,C20orf118,C20orf132,C20orf151,C20orf152,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CEP250,CHD6,CHRNA4,COL20A1,COL9A3,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DLGAP4,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,EDN3,EEF1A2,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83D,FER1L4,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GDF5,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RALGAPB,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 33909000 62377000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AAR2,ACOT8,ACTR5,ADA,ADIG,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,C20orf111,C20orf118,C20orf132,C20orf151,C20orf152,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CEP250,CHD6,CHRNA4,COL20A1,COL9A3,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DLGAP4,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,EDN3,EEF1A2,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83D,FER1L4,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GDF5,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RALGAPB,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 33909000 62377000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AAR2,ACOT8,ACTR5,ADA,ADIG,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,C20orf111,C20orf118,C20orf132,C20orf151,C20orf152,C20orf166,C20orf166-AS1,C20orf173,C20orf195,C20orf197,C20orf20,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CEP250,CHD6,CHRNA4,COL20A1,COL9A3,CPNE1,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DLGAP4,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,EDN3,EEF1A2,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83D,FER1L4,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GDF5,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00657,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NFS1,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RALGAPB,RBL1,RBM12,RBM38,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,UQCC,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 33911309 33944643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UQCC chr20 33929795 33930069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UQCC chr20 33929819 33930069 Gain and loss Pancreatic cancer SNP array 17952125 UQCC chr20 3393824 3394091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 33938995 33939137 Gain and loss Pancreatic cancer SNP array 17952125 UQCC chr20 33938995 33939137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UQCC chr20 33938995 33939139 Gain and loss Pancreatic cancer SNP array 17952125 UQCC chr20 33942496 33952766 Gain and loss Pancreatic cancer SNP array 17952125 UQCC chr20 33948876 33949004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UQCC chr20 33949047 33949192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UQCC chr20 33961836 33964645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UQCC chr20 33961836 33964645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UQCC chr20 33979906 33980011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UQCC chr20 33979907 33980011 Gain and loss Pancreatic cancer SNP array 17952125 UQCC chr20 3399001 3400500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 3399664 3579769 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ATRN chr20 3399676 3579760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATRN chr20 3399676 3579760 Gain and loss Pancreatic cancer SNP array 17952125 ATRN chr20 3399676 3579760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATRN chr20 34004960 34005842 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 34004960 34010808 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 34004960 34010808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34004960 34010808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34005001 34006500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 34006501 34356000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf173,CEP250,CPNE1,ERGIC3,FER1L4,GDF5,NFS1,RBM12,RBM39,ROMO1,SPAG4 chr20 34019943 34082036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEP250,GDF5 chr20 34019943 34082036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP250,GDF5 chr20 34019943 34082036 Gain and loss Pancreatic cancer SNP array 17952125 CEP250,GDF5 chr20 34019943 34082036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP250,GDF5 chr20 3402206 3434895 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 34034454 34034566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 34101423 34101502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 34127354 34127937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34142839 34284135 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CPNE1,ERGIC3,FER1L4,NFS1,RBM12,SPAG4 chr20 34142840 34284135 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPNE1,ERGIC3,FER1L4,NFS1,RBM12,SPAG4 chr20 34142840 34284135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPNE1,ERGIC3,FER1L4,NFS1,RBM12,SPAG4 chr20 34142840 34284135 Gain and loss Pancreatic cancer SNP array 17952125 CPNE1,ERGIC3,FER1L4,NFS1,RBM12,SPAG4 chr20 34142840 34284135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE1,ERGIC3,FER1L4,NFS1,RBM12,SPAG4 chr20 34166000 55734000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AAR2,ACOT8,ACTR5,ADA,ADIG,ADNP,ARFGEF2,ARHGAP40,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf152,C20orf24,C20orf43,CASS4,CBLN4,CD40,CDH22,CEBPB,CHD6,CPNE1,CSE1L,CSTF1,CTNNBL1,CTSA,CYP24A1,DBNDD2,DDX27,DHX35,DLGAP4,DNTTIP1,DOK5,DPM1,DSN1,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM65C,FAM83D,FER1L4,FITM2,GCNT7,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MATN4,MC3R,MIR3194,MIR3616,MIR3646,MIR4756,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NFS1,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PFDN4,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PPP1R16B,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RALGAPB,RBL1,RBM12,RBM39,RBPJL,RIMS4,RNF114,ROMO1,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPAG4,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,UBE2C,UBE2V1,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 34166072 34443365 Gain small cell lung cancer Real-time Quantitative PCR 17426248 CPNE1,FER1L4,NFS1,PHF20,RBM12,RBM39,ROMO1,SPAG4 chr20 34172298 34172406 Gain and loss Pancreatic cancer SNP array 17952125 FER1L4 chr20 34172298 34172406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FER1L4 chr20 34172658 34207112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FER1L4,SPAG4 chr20 3418176 3419652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34195095 34195170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FER1L4 chr20 34206075 34284135 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CPNE1,NFS1,RBM12,SPAG4 chr20 34209022 34244013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE1,RBM12 chr20 34210240 36111830 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAR2,C20orf118,C20orf132,C20orf152,C20orf24,CPNE1,DLGAP4,DSN1,EPB41L1,GHRH,LINC00657,MANBAL,MYL9,NDRG3,NFS1,PHF20,RBL1,RBM12,RBM39,ROMO1,RPN2,SAMHD1,SCAND1,SLA2,SOGA1,SRC,TGIF2,TGIF2-C20ORF24 chr20 34219875 34221594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPNE1 chr20 34287794 34322254 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RBM39,ROMO1 chr20 34287795 34322254 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RBM39,ROMO1 chr20 34287795 34322254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM39,ROMO1 chr20 34287795 34322254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM39,ROMO1 chr20 34287814 34308263 Gain and loss Pancreatic cancer SNP array 17952125 RBM39,ROMO1 chr20 34308682 34308782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM39 chr20 34312117 34428530 Copy number gain Normal High-resolution SNP genotyping 21211785 PHF20,RBM39 chr20 34354352 34354652 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 34354393 34355393 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 34356001 34360000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF20 chr20 34357716 34590454 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf152,PHF20,SCAND1 chr20 34357717 34590454 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C20orf152,PHF20,SCAND1 chr20 34357717 34590454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf152,PHF20,SCAND1 chr20 34357717 34590454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf152,PHF20,SCAND1 chr20 34360001 34602500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf152,PHF20,SCAND1 chr20 34394679 35306335 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,C20orf24,DLGAP4,EPB41L1,LINC00657,MYL9,NDRG3,PHF20,SCAND1,SLA2,TGIF2,TGIF2-C20ORF24 chr20 34400000 49800000 Deletion Myelodysplastic syndrome 50K HindIII (50K), 250K StyI (250K), or 250K NspI+250K StyI (500K) SNP microarray chips 17634407 AAR2,ACOT8,ACTR5,ADA,ADIG,ADNP,ARFGEF2,ARHGAP40,B4GALT5,BCAS4,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf152,C20orf24,CD40,CDH22,CEBPB,CHD6,CSE1L,CTNNBL1,CTSA,DBNDD2,DDX27,DHX35,DLGAP4,DNTTIP1,DPM1,DSN1,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,EYA2,FAM65C,FAM83D,FITM2,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MATN4,MIR3616,MIR3646,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PPP1R16B,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RALGAPB,RBL1,RBPJL,RIMS4,RNF114,RPN2,RPRD1B,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TTI1,TTPAL,UBE2C,UBE2V1,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 34400000 55000000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 AAR2,ACOT8,ACTR5,ADA,ADIG,ADNP,ARFGEF2,ARHGAP40,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf152,C20orf24,CASS4,CBLN4,CD40,CDH22,CEBPB,CHD6,CSE1L,CSTF1,CTNNBL1,CTSA,CYP24A1,DBNDD2,DDX27,DHX35,DLGAP4,DNTTIP1,DOK5,DPM1,DSN1,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,EYA2,FAM210B,FAM65C,FAM83D,FITM2,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MATN4,MC3R,MIR3194,MIR3616,MIR3646,MIR4756,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PFDN4,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PPP1R16B,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RALGAPB,RBL1,RBPJL,RIMS4,RNF114,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,UBE2C,UBE2V1,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 34420891 34949475 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,EPB41L1,LINC00657,PHF20,SCAND1 chr20 34428530 34938655 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,EPB41L1,LINC00657,PHF20,SCAND1 chr20 34428858 34590452 Gain and loss Pancreatic cancer SNP array 17952125 C20orf152,PHF20,SCAND1 chr20 34454309 34454403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PHF20 chr20 34458431 34458544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHF20 chr20 34486016 35067645 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,DLGAP4,EPB41L1,LINC00657,PHF20,SCAND1 chr20 34486016 35199710 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,DLGAP4,EPB41L1,LINC00657,MYL9,PHF20,SCAND1 chr20 34493032 35499133 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,C20orf24,DLGAP4,DSN1,EPB41L1,LINC00657,MYL9,NDRG3,PHF20,SCAND1,SLA2,SOGA1,TGIF2,TGIF2-C20ORF24 chr20 34493032 35502435 LOH Normal High-resolution SNP genotyping 21211785 AAR2,C20orf152,C20orf24,DLGAP4,DSN1,EPB41L1,LINC00657,MYL9,NDRG3,PHF20,SCAND1,SLA2,SOGA1,TGIF2,TGIF2-C20ORF24 chr20 34507776 56709287 Deletion Myelodysplastic syndrome - 21251322 AAR2,ACOT8,ACTR5,ADA,ADIG,ADNP,ARFGEF2,ARHGAP40,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BLCAP,BMP7,BPI,C20orf111,C20orf118,C20orf132,C20orf152,C20orf24,C20orf43,CASS4,CBLN4,CD40,CDH22,CEBPB,CHD6,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CYP24A1,DBNDD2,DDX27,DHX35,DLGAP4,DNTTIP1,DOK5,DPM1,DSN1,ELMO2,EMILIN3,EPB41L1,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM65C,FAM83D,FITM2,GCNT7,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LINC00657,LOC100131496,LOC100287792,LOC100505783,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MATN4,MC3R,MIR3194,MIR3616,MIR3646,MIR4325,MIR4532,MIR4756,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHF20,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPP1R16B,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RAE1,RALGAPB,RBL1,RBM38,RBPJL,RIMS4,RNF114,RPN2,RPRD1B,SALL4,SAMHD1,SCAND1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,UBE2C,UBE2V1,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZBP1,ZFP64,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 34590000 43450000 Loss Acute lymphoblastic leukemia - 21339820 AAR2,ACTR5,ADA,ADIG,ARHGAP40,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf152,C20orf24,CHD6,CTNNBL1,DHX35,DLGAP4,DSN1,EMILIN3,EPB41L1,FAM83D,FITM2,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00657,LOC100287792,LOC100505783,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MIR3646,MYBL2,MYL9,NDRG3,NNAT,PKIG,PLCG1,PPP1R16B,PTPRT,R3HDML,RALGAPB,RBL1,RIMS4,RPN2,RPRD1B,SAMHD1,SERINC3,SGK2,SLA2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SRC,SRSF6,TGIF2,TGIF2-C20ORF24,TGM2,TOP1,TOX2,TTI1,TTPAL,VSTM2L,WISP2,ZHX3 chr20 34602501 34605000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf152 chr20 34603310 34611640 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C20orf152 chr20 34603311 34611640 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C20orf152 chr20 34603311 34611640 Amplification T-cell lymphomas Array-CGH 22341440 C20orf152 chr20 34603311 34611640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf152 chr20 34603311 34611640 Gain and loss Pancreatic cancer SNP array 17952125 C20orf152 chr20 34603311 34611640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf152 chr20 3460369 3460469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRN chr20 34605001 34611500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf152 chr20 34607820 35590764 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 AAR2,C20orf118,C20orf152,C20orf24,DLGAP4,DSN1,EPB41L1,LINC00657,MYL9,NDRG3,SAMHD1,SLA2,SOGA1,TGIF2,TGIF2-C20ORF24 chr20 34611501 34613000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf152 chr20 34613001 34835000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AAR2,C20orf152,EPB41L1,LINC00657 chr20 34615059 35098973 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAR2,C20orf152,DLGAP4,EPB41L1,LINC00657 chr20 34629166 34629266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 34635305 34655767 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00657 chr20 34635305 34655767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00657 chr20 34635305 34655767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00657 chr20 34635423 34655766 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 LINC00657 chr20 34635424 34655766 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 LINC00657 chr20 34635437 34655764 Gain and loss Pancreatic cancer SNP array 17952125 LINC00657 chr20 34636369 34674374 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 LINC00657 chr20 34657114 34707972 Gain and loss Pancreatic cancer SNP array 17952125 EPB41L1 chr20 34661303 34707972 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPB41L1 chr20 34661303 34707972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41L1 chr20 34661303 34707972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41L1 chr20 34667581 34674370 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 34667581 34674372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 34667581 34674374 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 34667581 34674374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34667581 34674374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34682220 34683241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41L1 chr20 34713583 34807895 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPB41L1 chr20 34713583 34807895 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 EPB41L1 chr20 34713583 34807895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41L1 chr20 34713583 34807895 Gain and loss Pancreatic cancer SNP array 17952125 EPB41L1 chr20 34713583 34807895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41L1 chr20 34730376 34730487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41L1 chr20 34730378 34730487 Gain and loss Pancreatic cancer SNP array 17952125 EPB41L1 chr20 34730380 34730487 Gain and loss Pancreatic cancer SNP array 17952125 EPB41L1 chr20 34813608 34835644 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AAR2,EPB41L1 chr20 34813612 34835563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AAR2,EPB41L1 chr20 34813612 34835563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAR2,EPB41L1 chr20 34813861 34835614 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 AAR2,EPB41L1 chr20 34813862 34835563 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 AAR2,EPB41L1 chr20 34813871 34835614 Gain and loss Pancreatic cancer SNP array 17952125 AAR2,EPB41L1 chr20 34835001 34954000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AAR2 chr20 34839259 34925503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AAR2 chr20 34839259 34925503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAR2 chr20 34839266 34924651 Gain and loss Pancreatic cancer SNP array 17952125 AAR2 chr20 34839361 34839455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AAR2 chr20 34853717 51702925 Deletion Myelodysplastic syndrome - 21251322 ACOT8,ACTR5,ADA,ADIG,ADNP,ARFGEF2,ARHGAP40,ATP9A,B4GALT5,BCAS4,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf24,CD40,CDH22,CEBPB,CHD6,CSE1L,CTNNBL1,CTSA,DBNDD2,DDX27,DHX35,DLGAP4,DNTTIP1,DPM1,DSN1,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,EYA2,FAM65C,FAM83D,FITM2,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LINC00494,LINC00651,LOC100131496,LOC100287792,LOC100505783,LOC284751,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MATN4,MIR3194,MIR3616,MIR3646,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NNAT,OCSTAMP,PABPC1L,PARD6B,PCIF1,PI3,PIGT,PKIG,PLCG1,PLTP,PPP1R16B,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RALGAPB,RBL1,RBPJL,RIMS4,RNF114,RPN2,RPRD1B,SALL4,SAMHD1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPATA2,SPATA25,SPINT3,SPINT4,SRC,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TGIF2,TGIF2-C20ORF24,TGM2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,UBE2C,UBE2V1,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 34860000 62370000 Gain Ductal carcinoma SNP array 22052326 ACOT8,ACTR5,ADA,ADIG,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,C20orf111,C20orf118,C20orf132,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf24,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHD6,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DLGAP4,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,EDN3,EEF1A2,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83D,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,MYL9,NCOA3,NCOA5,NDRG3,NEURL2,NFATC2,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RALGAPB,RBL1,RBM38,RBPJL,RIMS4,RNF114,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 34888175 34888275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 34897690 35310884 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C20orf24,DLGAP4,MYL9,NDRG3,SLA2,TGIF2,TGIF2-C20ORF24 chr20 34931916 34932177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 34931916 34932177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34934264 36233880 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 BLCAP,C20orf118,C20orf132,C20orf24,DLGAP4,DSN1,GHRH,MANBAL,MYL9,NDRG3,NNAT,RBL1,RPN2,SAMHD1,SLA2,SOGA1,SRC,TGIF2,TGIF2-C20ORF24 chr20 34937984 34956033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34937984 34956033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 34937984 34956046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 34949803 34949871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 34954059 35013590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLGAP4 chr20 34954059 35013590 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP4 chr20 34954059 35013590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP4 chr20 34985085 34985185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3500000 10600000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ADAM33,ADRA1D,ANKRD5,AP5S1,ATRN,BMP2,C20orf196,C20orf27,C20orf94,CDC25B,CDS2,CENPB,CHGB,CRLS1,FERMT1,GFRA4,GPCPD1,HAO1,HSPA12B,LAMP5,LINC00654,LINC00658,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MKKS,PAK7,PANK2,PCNA,PCNA-AS1,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,RASSF2,RNF24,SIGLEC1,SLC23A2,SMOX,SNAP25,SNAP25-AS1,SPEF1,TMEM230,TMX4,TRMT6 chr20 35050000 35380000 Gain Breast cancer aCGH 21509527 C20orf24,DLGAP4,MYL9,NDRG3,SLA2,TGIF2,TGIF2-C20ORF24 chr20 35059592 35157824 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 DLGAP4 chr20 35059592 35157824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLGAP4 chr20 35059592 35157824 Gain and loss Pancreatic cancer SNP array 17952125 DLGAP4 chr20 35059592 35157824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP4 chr20 35063828 35150545 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLGAP4 chr20 35083560 35083801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP4 chr20 35111071 35111516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLGAP4 chr20 35112566 35112666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLGAP4 chr20 35121427 43810965 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTR5,ADA,ADIG,ARHGAP40,BLCAP,BPI,C20orf111,C20orf118,C20orf132,C20orf24,CHD6,CTNNBL1,DHX35,DLGAP4,DSN1,EMILIN3,FAM83D,FITM2,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,KIAA1755,L3MBTL1,LBP,LINC00489,LOC100287792,LOC100505783,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MIR3646,MYBL2,MYL9,NDRG3,NNAT,PABPC1L,PI3,PKIG,PLCG1,PPP1R16B,PTPRT,R3HDML,RALGAPB,RBL1,RIMS4,RPN2,RPRD1B,SAMHD1,SERINC3,SGK2,SLA2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SRC,SRSF6,STK4,STK4-AS1,TGIF2,TGIF2-C20ORF24,TGM2,TOMM34,TOP1,TOX2,TTI1,TTPAL,VSTM2L,WFDC12,WFDC5,WISP2,YWHAB,ZHX3 chr20 35133964 35150545 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLGAP4 chr20 35157602 35158995 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 35163043 35241393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf24,MYL9,SLA2,TGIF2,TGIF2-C20ORF24 chr20 35163043 35241393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf24,MYL9,SLA2,TGIF2,TGIF2-C20ORF24 chr20 35163044 35241297 Gain and loss Pancreatic cancer SNP array 17952125 C20orf24,MYL9,SLA2,TGIF2,TGIF2-C20ORF24 chr20 35166578 35167640 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 3520380 3520480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRN chr20 35227591 35228129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGIF2-C20ORF24 chr20 35240888 35303434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf24,NDRG3,SLA2,TGIF2-C20ORF24 chr20 35240888 35303434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf24,NDRG3,SLA2,TGIF2-C20ORF24 chr20 35240888 35305967 Gain and loss Pancreatic cancer SNP array 17952125 C20orf24,NDRG3,SLA2,TGIF2-C20ORF24 chr20 35249024 35249335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLA2 chr20 35302553 35303729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NDRG3 chr20 35312903 35318706 Gain and loss Pancreatic cancer SNP array 17952125 NDRG3 chr20 35312903 35323652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDRG3 chr20 35312903 35323652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDRG3 chr20 35351464 35379077 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NDRG3 chr20 35351465 35379077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDRG3 chr20 35351465 35379077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDRG3 chr20 35351487 35379075 Gain and loss Pancreatic cancer SNP array 17952125 NDRG3 chr20 35401501 35468500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DSN1,SOGA1 chr20 35405701 35438241 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SOGA1 chr20 35406501 35467235 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SOGA1 chr20 35406501 35467235 Gain or loss Breast cancer - 20668451 SOGA1 chr20 35406501 35467235 Gain or loss Cancer - 20668451 SOGA1 chr20 35406501 35467235 Gain or loss Lung cancer - 20668451 SOGA1 chr20 35406501 35467235 Gain or loss Ovarian cancer - 20668451 SOGA1 chr20 35406501 35467235 Gain or loss Pancreas cancer - 20668451 SOGA1 chr20 35406501 35467235 Gain or loss Prostate cancer - 20668451 SOGA1 chr20 35407971 35467867 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOGA1 chr20 35407971 35467867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOGA1 chr20 35407971 35467867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOGA1 chr20 35413890 35413990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOGA1 chr20 35432771 43172910 Loss Prostate cancer Array CGH 18632612 ACTR5,ADIG,ARHGAP40,BLCAP,BPI,C20orf111,C20orf118,C20orf132,CHD6,CTNNBL1,DHX35,EMILIN3,FAM83D,FITM2,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KIAA1755,L3MBTL1,LBP,LINC00489,LOC100287792,LOC100505783,LOC339568,LOC388796,LPIN3,MAFB,MANBAL,MIR3646,MYBL2,NNAT,PKIG,PLCG1,PPP1R16B,PTPRT,R3HDML,RALGAPB,RBL1,RPN2,RPRD1B,SAMHD1,SERINC3,SGK2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SOGA1,SRC,SRSF6,TGM2,TOP1,TOX2,TTI1,TTPAL,VSTM2L,ZHX3 chr20 35444433 35467233 Gain and loss Pancreatic cancer SNP array 17952125 SOGA1 chr20 35474362 62435964 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACOT8,ACTR5,ADA,ADIG,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BLCAP,BMP7,BPI,C20orf111,C20orf118,C20orf132,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHD6,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83D,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GHRH,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,L3MBTL1,LAMA5,LBP,LIME1,LINC00029,LINC00489,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100287792,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC388796,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MANBAL,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NNAT,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RALGAPB,RBL1,RBM38,RBPJL,RIMS4,RNF114,RPN2,RPRD1B,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD12,SNORD12B,SNORD12C,SNX21,SOGA1,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRC,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TGM2,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTI1,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,VSTM2L,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 35483553 35483591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOGA1 chr20 35506549 35507339 Gain and loss Pancreatic cancer SNP array 17952125 C20orf118 chr20 35506549 35507363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf118 chr20 35515209 38695901 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ACTR5,ADIG,ARHGAP40,BLCAP,BPI,C20orf118,C20orf132,CTNNBL1,DHX35,FAM83D,GHRH,KIAA1755,LBP,LINC00489,LOC100287792,LOC339568,LOC388796,MANBAL,NNAT,PPP1R16B,RALGAPB,RBL1,RPN2,RPRD1B,SAMHD1,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SRC,TGM2,TTI1,VSTM2L chr20 35549262 35550207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SAMHD1 chr20 35579232 35589717 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SAMHD1 chr20 35579233 35589717 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SAMHD1 chr20 35579233 35589717 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 SAMHD1 chr20 35579233 35589717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SAMHD1 chr20 35579233 35589717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMHD1 chr20 35579235 35589689 Gain and loss Pancreatic cancer SNP array 17952125 SAMHD1 chr20 35583020 35585504 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 35583021 35585502 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 35583021 35585502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 35583021 35585502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 35583021 35585502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 35586249 35586338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 35586774 43375783 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACTR5,ADA,ADIG,ARHGAP40,BLCAP,BPI,C20orf111,C20orf132,CHD6,CTNNBL1,DHX35,EMILIN3,FAM83D,FITM2,GDAP1L1,GHRH,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KIAA1755,L3MBTL1,LBP,LINC00489,LOC100287792,LOC100505783,LOC339568,LOC388796,LOC79015,LPIN3,MAFB,MANBAL,MIR3646,MYBL2,NNAT,PKIG,PLCG1,PPP1R16B,PTPRT,R3HDML,RALGAPB,RBL1,RPN2,RPRD1B,SERINC3,SGK2,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SRC,SRSF6,TGM2,TOP1,TOX2,TTI1,TTPAL,VSTM2L,WISP2,ZHX3 chr20 35591855 35592359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 35591999 35592308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 35610624 35610945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 35640102 35673518 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBL1 chr20 35647701 36179000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BLCAP,C20orf132,GHRH,MANBAL,NNAT,RBL1,RPN2,SRC chr20 35664668 35665001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBL1 chr20 35679701 38279399 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR5,ADIG,ARHGAP40,BLCAP,BPI,C20orf132,CTNNBL1,DHX35,FAM83D,GHRH,KIAA1755,LBP,LINC00489,LOC100287792,LOC339568,LOC388796,MANBAL,NNAT,PPP1R16B,RALGAPB,RBL1,RPN2,RPRD1B,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SRC,TGM2,TTI1,VSTM2L chr20 35708530 36223257 LOH Normal High-resolution SNP genotyping 21211785 BLCAP,C20orf132,GHRH,MANBAL,NNAT,RBL1,RPN2,SRC chr20 35738726 35745050 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C20orf132 chr20 35738726 35745050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf132 chr20 35738726 35745050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf132 chr20 35747963 35782757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C20orf132 chr20 35755847 35933934 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf132,GHRH,MANBAL,RPN2 chr20 35755848 35933933 Gain and loss Pancreatic cancer SNP array 17952125 C20orf132,GHRH,MANBAL,RPN2 chr20 35755848 35933945 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C20orf132,GHRH,MANBAL,RPN2 chr20 35755848 35933945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf132,GHRH,MANBAL,RPN2 chr20 35755848 35933945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf132,GHRH,MANBAL,RPN2 chr20 35807549 36639306 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BLCAP,C20orf132,CTNNBL1,GHRH,LINC00489,LOC100287792,MANBAL,NNAT,RPN2,SRC,TTI1,VSTM2L chr20 35829912 35830012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPN2 chr20 3587001 3754500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAM33,ATRN,C20orf27,GFRA4,HSPA12B,SIGLEC1 chr20 3587938 3592046 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ATRN chr20 3587939 3592046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATRN chr20 3587939 3592046 Gain and loss Pancreatic cancer SNP array 17952125 ATRN chr20 3587939 3592046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATRN chr20 35931001 36007500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MANBAL,SRC chr20 35933253 35933353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MANBAL chr20 35964912 36007161 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SRC chr20 35964913 36007159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRC chr20 35964913 36007159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRC chr20 35964920 36007159 Gain and loss Pancreatic cancer SNP array 17952125 SRC chr20 3596617 3610893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATRN chr20 3596617 3610893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATRN chr20 3596618 3611337 Gain and loss Pancreatic cancer SNP array 17952125 ATRN chr20 35974556 36033821 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 SRC chr20 35981034 35981111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRC chr20 36036968 36037297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36036972 36037297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36036972 36037297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36042191 36043147 Loss Normal 244K array 17666407 NOT_FOUND chr20 36044823 36095277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36044823 36095277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36044836 36095247 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 36044837 36095247 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 36044844 36095237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36049613 36794015 LOH Normal High-resolution SNP genotyping 21211785 BLCAP,CTNNBL1,LINC00489,LOC100287792,NNAT,RPRD1B,TGM2,TTI1,VSTM2L chr20 36053387 36053460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 36095361 36154180 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 BLCAP,NNAT chr20 36095362 36154175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BLCAP,NNAT chr20 36095467 36154627 Gain and loss Pancreatic cancer SNP array 17952125 BLCAP,NNAT chr20 36114463 36114562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36114463 36114562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36114467 36114559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36136844 39467932 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTR5,ADIG,ARHGAP40,BLCAP,BPI,CTNNBL1,DHX35,FAM83D,KIAA1755,LBP,LINC00489,LOC100287792,LOC339568,LOC388796,MAFB,NNAT,PPP1R16B,RALGAPB,RPRD1B,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,TGM2,TTI1,VSTM2L chr20 3615619 3635775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATRN chr20 3615619 3635775 Gain and loss Pancreatic cancer SNP array 17952125 ATRN chr20 3615619 3635775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATRN chr20 36160212 36160516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36160276 36160516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36160276 36160516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36187001 36284500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00489 chr20 36190277 36227114 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 36190278 36227114 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 36190280 36227114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36190280 36227114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36190280 36227114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3625455 3625555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRN chr20 36272320 36322588 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTNNBL1,LOC100287792 chr20 36272321 36303676 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36272321 36322588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1,LOC100287792 chr20 36272321 36322588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1,LOC100287792 chr20 3628280 3748517 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ADAM33,ATRN,C20orf27,GFRA4,HSPA12B,SIGLEC1 chr20 36284501 36535500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTNNBL1,LOC100287792,VSTM2L chr20 36365965 36399319 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTNNBL1 chr20 36365966 36399319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36365966 36399319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36365991 36399319 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36367791 36367891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNBL1 chr20 36369107 36369207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNBL1 chr20 36392696 36498327 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTNNBL1 chr20 36402733 36402822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNBL1 chr20 36408298 36439067 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTNNBL1 chr20 36408299 36439067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36408299 36439067 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36408299 36439067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 364124 391187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBCK1,TRIB3 chr20 364124 391187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBCK1,TRIB3 chr20 36423822 36423912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNBL1 chr20 36470868 41202532 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTR5,ADIG,ARHGAP40,BPI,CHD6,CTNNBL1,DHX35,EMILIN3,FAM83D,KIAA1755,LBP,LOC339568,LOC388796,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,RPRD1B,SLC32A1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,TGM2,TOP1,TTI1,VSTM2L,ZHX3 chr20 36482653 36497330 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTNNBL1 chr20 36482653 36497398 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36482658 36497171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36483708 36483835 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36483708 36483835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36483709 36483836 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36487256 36487392 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTNNBL1 chr20 36487257 36487392 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36487260 36487393 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36487260 36487393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36488458 36489263 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CTNNBL1 chr20 36488525 36489224 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 CTNNBL1 chr20 36488525 36489224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTNNBL1 chr20 36489362 36489500 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTNNBL1 chr20 36489363 36489500 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36489366 36489499 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36489366 36489499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36491723 36491861 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTNNBL1 chr20 36491727 36491860 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36491727 36491860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36491727 36491861 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 364929 391197 Gain and loss Pancreatic cancer SNP array 17952125 RBCK1,TRIB3 chr20 36495918 36496056 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CTNNBL1 chr20 36495922 36496055 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36495922 36496055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNBL1 chr20 36495922 36496056 Gain and loss Pancreatic cancer SNP array 17952125 CTNNBL1 chr20 36504093 36504226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36504093 36504226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36504095 36504226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36508710 36512978 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 36508711 36512978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36508739 36512978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36508739 36512978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36510139 36511561 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 36510140 36510275 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36510141 36510272 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36510141 36510272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36511426 36511561 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36511427 36511560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36511427 36511560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36534873 36640918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTI1,VSTM2L chr20 36534873 36640918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTI1,VSTM2L chr20 36534899 36640918 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TTI1,VSTM2L chr20 36534900 36640750 Gain and loss Pancreatic cancer SNP array 17952125 TTI1,VSTM2L chr20 36534900 36640918 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 TTI1,VSTM2L chr20 36548366 36548426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VSTM2L chr20 3656779 3816341 Insert Cancer ultra-high resolution array CGH 21272361 ADAM33,AP5S1,C20orf27,CDC25B,CENPB,HSPA12B,SIGLEC1,SPEF1 chr20 36572671 36572983 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VSTM2L chr20 36599815 36600515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3661273 3661346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM33 chr20 3661355 3681758 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ADAM33,SIGLEC1 chr20 3661356 3681758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM33,SIGLEC1 chr20 3661356 3681758 Gain and loss Pancreatic cancer SNP array 17952125 ADAM33,SIGLEC1 chr20 3661356 3681758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM33,SIGLEC1 chr20 36641001 36785000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPRD1B,TGM2,TTI1 chr20 36643251 36650518 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TTI1 chr20 36643252 36650518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTI1 chr20 36643252 36650518 Gain and loss Pancreatic cancer SNP array 17952125 TTI1 chr20 36643252 36650518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTI1 chr20 36649199 36681267 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPRD1B,TTI1 chr20 36663560 36663660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPRD1B chr20 36676970 36677533 Gain and loss Pancreatic cancer SNP array 17952125 RPRD1B chr20 36676970 36677533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPRD1B chr20 36696739 36712517 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RPRD1B chr20 36696740 36705967 Gain and loss Pancreatic cancer SNP array 17952125 RPRD1B chr20 36696740 36712517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPRD1B chr20 36706608 36706674 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPRD1B chr20 36785001 36793500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TGM2 chr20 36786519 36791429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGM2 chr20 36786519 36791429 Gain and loss Pancreatic cancer SNP array 17952125 TGM2 chr20 36786519 36791429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM2 chr20 3680226 3680960 Gain and loss Pancreatic cancer SNP array 17952125 SIGLEC1 chr20 36810511 36834247 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36810526 36834226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36810526 36834226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36817962 36818040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3682155 3704386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIGLEC1 chr20 3682155 3704386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIGLEC1 chr20 3682156 3696382 Gain and loss Pancreatic cancer SNP array 17952125 SIGLEC1 chr20 36822396 36822986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 36823585 36823825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36823585 36823899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 36823585 36823911 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 36825866 36825966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 36867001 36869500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA1755 chr20 36867761 36985081 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 BPI,KIAA1755,LBP chr20 36867761 36985081 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20688871 BPI,KIAA1755,LBP chr20 36867762 36985081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BPI,KIAA1755,LBP chr20 36867762 36985081 Gain and loss Pancreatic cancer SNP array 17952125 BPI,KIAA1755,LBP chr20 36867762 36985081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BPI,KIAA1755,LBP chr20 36869501 36993000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BPI,KIAA1755,LBP chr20 36903806 36934115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPI chr20 36920421 36920521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 36924619 36944918 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPI chr20 36934827 36935134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BPI chr20 36934829 36935083 Gain and loss Pancreatic cancer SNP array 17952125 BPI chr20 36934829 36935083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BPI chr20 36962413 36999439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BPI,LBP chr20 36981777 36981877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LBP chr20 36988368 37015117 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LBP chr20 36988368 37015117 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20688871 LBP chr20 36988369 37015113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LBP chr20 36988369 37015113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LBP chr20 36988369 37026825 Gain and loss Pancreatic cancer SNP array 17952125 LBP chr20 37024409 37101777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC388796,RALGAPB,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D chr20 37024409 37101777 Gain and loss Pancreatic cancer SNP array 17952125 LOC388796,RALGAPB,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D chr20 37024409 37101777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388796,RALGAPB,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D chr20 37024413 37101778 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LOC388796,RALGAPB,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D chr20 37024413 37101778 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20719933 LOC388796,RALGAPB,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D chr20 370396 370495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIB3 chr20 37039768 37040479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3706152 3710083 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 3706152 3710102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3706152 3710102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 37100000 41100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR5,ADIG,ARHGAP40,CHD6,DHX35,EMILIN3,FAM83D,LOC339568,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,SLC32A1,TOP1,ZHX3 chr20 37100000 41100000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ACTR5,ADIG,ARHGAP40,CHD6,DHX35,EMILIN3,FAM83D,LOC339568,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,SLC32A1,TOP1,ZHX3 chr20 37100000 41100000 Copy number Normal - 20680643 ACTR5,ADIG,ARHGAP40,CHD6,DHX35,EMILIN3,FAM83D,LOC339568,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,SLC32A1,TOP1,ZHX3 chr20 37100000 41100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR5,ADIG,ARHGAP40,CHD6,DHX35,EMILIN3,FAM83D,LOC339568,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,SLC32A1,TOP1,ZHX3 chr20 37100000 41100000 Gain Cervical cancer Array CGH and SNP array 16585170 ACTR5,ADIG,ARHGAP40,CHD6,DHX35,EMILIN3,FAM83D,LOC339568,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,SLC32A1,TOP1,ZHX3 chr20 37100000 41100000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACTR5,ADIG,ARHGAP40,CHD6,DHX35,EMILIN3,FAM83D,LOC339568,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,SLC32A1,TOP1,ZHX3 chr20 37100000 41100000 Indels Infertility Agilent Human Genome CGH 244A Oligo Microarray Chip 21528002 ACTR5,ADIG,ARHGAP40,CHD6,DHX35,EMILIN3,FAM83D,LOC339568,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,SLC32A1,TOP1,ZHX3 chr20 37100000 41100000 Loss Hepatocellular carcinoma Array CGH 16750200 ACTR5,ADIG,ARHGAP40,CHD6,DHX35,EMILIN3,FAM83D,LOC339568,LPIN3,MAFB,PLCG1,PPP1R16B,PTPRT,RALGAPB,SLC32A1,TOP1,ZHX3 chr20 37100000 45800000 Gain Gastrointestinal stromal cancer array CGH 16982739 ACOT8,ACTR5,ADA,ADIG,ARHGAP40,C20orf111,CD40,CDH22,CHD6,CTSA,DBNDD2,DHX35,DNTTIP1,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,EYA2,FAM83D,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC339568,LOC79015,LPIN3,MAFB,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLCG1,PLTP,PPP1R16B,PTPRT,R3HDML,RALGAPB,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 37100000 49200000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ACOT8,ACTR5,ADA,ADIG,ARFGEF2,ARHGAP40,B4GALT5,C20orf111,CD40,CDH22,CEBPB,CHD6,CSE1L,CTSA,DBNDD2,DDX27,DHX35,DNTTIP1,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,EYA2,FAM83D,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC339568,LOC79015,LPIN3,MAFB,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLCG1,PLTP,PPP1R16B,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RALGAPB,RBPJL,RIMS4,RNF114,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC32A1,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 37100000 62435964 Gain Thyroid cancer FISH 19087340 ACOT8,ACTR5,ADA,ADIG,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHD6,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DHX35,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83D,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC339568,LOC63930,LOC79015,LPIN3,LSM14B,MAFB,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLCG1,PLTP,PMEPA1,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RALGAPB,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 37112243 37112333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RALGAPB chr20 3712497 3715337 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 HSPA12B chr20 3712498 3715337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSPA12B chr20 3712498 3715337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSPA12B chr20 3713331 3715130 Gain and loss Pancreatic cancer SNP array 17952125 HSPA12B chr20 3714254 3714316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPA12B chr20 3724385 3734761 Amplification Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 C20orf27,HSPA12B chr20 3724385 3734761 Copy number Lung cancer - 20668451 C20orf27,HSPA12B chr20 3724385 3734761 Gain or loss Breast cancer - 20668451 C20orf27,HSPA12B chr20 3724385 3734761 Gain or loss Cancer - 20668451 C20orf27,HSPA12B chr20 3724385 3734761 Gain or loss Lung cancer - 20668451 C20orf27,HSPA12B chr20 3724385 3734761 Gain or loss Ovarian cancer - 20668451 C20orf27,HSPA12B chr20 3724385 3734761 Gain or loss Pancreas cancer - 20668451 C20orf27,HSPA12B chr20 3724385 3734761 Gain or loss Prostate cancer - 20668451 C20orf27,HSPA12B chr20 3724385 3734761 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 C20orf27,HSPA12B chr20 3724386 3734759 Gain and loss Pancreatic cancer SNP array 17952125 C20orf27,HSPA12B chr20 3724401 3734757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf27,HSPA12B chr20 3724401 3734757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf27,HSPA12B chr20 3724401 3734761 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 C20orf27,HSPA12B chr20 3725839 3725917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPA12B chr20 37263696 37295391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP40 chr20 37306087 37306187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 37333597 37333679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 37342368 38279399 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR5,DHX35,FAM83D,LOC339568,PPP1R16B,SLC32A1 chr20 37391071 37391981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR5 chr20 37411151 37411449 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 37411153 37411449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 37414910 37415048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 37414910 37415048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 37416956 37416992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 37424334 37424429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3743029 3743452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C20orf27 chr20 3749178 3753954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3749178 3753954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3749203 3753954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 37512976 37513076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R16B chr20 3754501 3793000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDC25B,CENPB,SPEF1 chr20 37554017 37554117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3757794 3757872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 37600000 41700000 Gain Gastric cancer Array CGH 16891809 CHD6,DHX35,EMILIN3,LOC339568,LPIN3,MAFB,PLCG1,PTPRT,TOP1,ZHX3 chr20 37600000 46400000 Gain and amplification Multiple myeloma Array CGH 16616336 ACOT8,ADA,C20orf111,CD40,CDH22,CHD6,CTSA,DBNDD2,DHX35,DNTTIP1,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100131496,LOC100505783,LOC339568,LOC79015,LPIN3,MAFB,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLCG1,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 37600000 49800000 Gain Esophageal adenocarcinoma MLPA 18820669 ACOT8,ADA,ADNP,ARFGEF2,B4GALT5,BCAS4,C20orf111,CD40,CDH22,CEBPB,CHD6,CSE1L,CTSA,DBNDD2,DDX27,DHX35,DNTTIP1,DPM1,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,EYA2,FAM65C,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC339568,LOC79015,LPIN3,MAFB,MATN4,MIR3616,MIR3646,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PARD6B,PCIF1,PI3,PIGT,PKIG,PLCG1,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 37664253 38241253 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 DHX35,LOC339568 chr20 37749999 37750099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3775484 3795973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC25B chr20 3775484 3795973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC25B chr20 3775484 3796972 Gain and loss Pancreatic cancer SNP array 17952125 CDC25B chr20 37900244 37900344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3792850 3793377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 3793001 3795500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 379307 379404 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 379307 379406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 37982238 37982338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 37986965 37987062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 37988147 37988247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 37994978 37995295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 38004065 38004127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3802663 3802757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AP5S1 chr20 38061121 38061181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38069025 38069125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38075308 38080475 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr20 3817485 3852502 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 MAVS chr20 3817486 3852501 Gain and loss Pancreatic cancer SNP array 17952125 MAVS chr20 3817486 3852502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAVS chr20 3817486 3852502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAVS chr20 3817742 3852502 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 MAVS chr20 38180089 38180189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38181323 38181423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38210511 38210654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38210677 38210874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38227016 38227070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38368980 38401897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 384017 384117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38450605 38458991 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 3846137 3846222 Gain and loss Pancreatic cancer SNP array 17952125 MAVS chr20 3846141 3846218 Amplification Acute myeloid leukemia BAC aCGH 20962326 MAVS chr20 3846141 3846218 Gain and loss Pancreatic cancer SNP array 17952125 MAVS chr20 3846141 3846218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAVS chr20 3846149 3846210 Amplification Acute myeloid leukemia BAC aCGH 20962326 MAVS chr20 38472383 38472483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38537844 38537944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38554072 45485732 Gain Malignant melanoma BAC array CGH 17260012 ACOT8,ADA,C20orf111,CD40,CDH22,CHD6,CTSA,DBNDD2,DNTTIP1,ELMO2,EMILIN3,EPPIN,EPPIN-WFDC6,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,LPIN3,MAFB,MATN4,MIR3646,MKRN7P,MMP9,MYBL2,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLCG1,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOP1,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZHX3,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 38557658 38557758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3861737 3944157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR103A2,MIR103B2,PANK2,RNF24 chr20 3861737 3944157 Gain and loss Pancreatic cancer SNP array 17952125 MIR103A2,MIR103B2,PANK2,RNF24 chr20 3861737 3944157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR103A2,MIR103B2,PANK2,RNF24 chr20 38744501 38755000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 38747902 38751294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 38747902 38751294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 38747930 38751290 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 38747930 38751290 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 38747930 38751290 Gain or loss Cancer - 20668451 NOT_FOUND chr20 38747930 38751290 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 38747930 38751290 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 38747930 38751290 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 38747930 38751290 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 38749021 38750912 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 38766439 38767439 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 38779902 38779970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38808239 38808339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38833017 38834017 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 38834238 38834322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38850211 38850311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 3887140 4649211 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADRA1D,LOC728228,MIR103A2,MIR103B2,PANK2,RNF24,SMOX chr20 38915928 38916028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 38916193 38916283 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 38936701 40328200 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHD6,EMILIN3,LPIN3,MAFB,PLCG1,TOP1,ZHX3 chr20 38960292 40744219 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHD6,EMILIN3,LPIN3,MAFB,PLCG1,PTPRT,TOP1,ZHX3 chr20 38963826 38970159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 3897943 3897943 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 PANK2 chr20 3897943 3897943 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 PANK2 chr20 3898141 3898218 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 MIR103A2,MIR103B2,PANK2 chr20 39020001 40374034 LOH Normal High-resolution SNP genotyping 21211785 CHD6,EMILIN3,LPIN3,MAFB,PLCG1,TOP1,ZHX3 chr20 39027154 40802009 LOH Normal High-resolution SNP genotyping 21211785 CHD6,EMILIN3,LPIN3,MAFB,PLCG1,PTPRT,TOP1,ZHX3 chr20 39027674 39062227 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 39038395 39051966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 39041331 39041363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 390501 391500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBCK1 chr20 39086259 39086445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39086259 39086448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39086259 39086448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39087629 39087689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39090875 39186540 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 39090875 39186540 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr20 39090875 39186540 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 39090875 39186540 Gain or loss Cancer - 20668451 NOT_FOUND chr20 39090875 39186540 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 39090875 39186540 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 39090875 39186540 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 39090875 39186540 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 39090875 39186540 Translate Acute myeloid leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr20 39090876 39186541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39090876 39186541 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39090876 39186541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39099523 39099690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39099886 39101048 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 39196001 39237000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 39199014 39237775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39199014 39237775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39199574 39237771 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 39199574 39237771 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 39199574 39237771 Gain or loss Cancer - 20668451 NOT_FOUND chr20 39199574 39237771 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 39199574 39237771 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 39199574 39237771 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 39199574 39237771 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 39199575 39237771 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 39199575 39237771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39206914 39207014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39240502 39362153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAFB chr20 39240502 39362153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAFB chr20 39240502 39379656 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MAFB chr20 39240505 39362153 Gain and loss Pancreatic cancer SNP array 17952125 MAFB chr20 39258749 39259211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39262867 39262967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39301553 39301653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39313603 39346181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAFB chr20 39315909 39320127 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MAFB chr20 39315935 39319596 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MAFB chr20 39337901 39342700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 39339716 39340896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 39352334 39352630 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39352336 39352631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39358740 40199110 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHD6,EMILIN3,LPIN3,PLCG1,TOP1,ZHX3 chr20 39374699 39374799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39389262 39434395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 39393042 39393134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39393177 39393714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39402001 39404000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 39402907 39422639 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39402973 39422636 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 39402974 39422635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39402974 39422635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39404001 39418500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 39418501 39428500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 39422019 39428912 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 39422020 39428912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39422020 39428912 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39422020 39428912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39444437 39445161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39464583 39680547 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TOP1 chr20 39464584 39680547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOP1 chr20 39464584 39680547 Gain and loss Pancreatic cancer SNP array 17952125 TOP1 chr20 39464584 39680547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOP1 chr20 39469403 39469497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39477541 39477691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39500998 39501093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39521408 39523998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3952364 3953234 Gain and loss Pancreatic cancer SNP array 17952125 RNF24 chr20 3952564 3953091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF24 chr20 39553625 40042498 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHD6,EMILIN3,LPIN3,PLCG1,TOP1,ZHX3 chr20 39553625 41140415 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHD6,EMILIN3,LPIN3,PLCG1,PTPRT,TOP1,ZHX3 chr20 3960496 3964421 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RNF24 chr20 39609401 39609978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39609475 39609978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39635381 39667400 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TOP1 chr20 39657461 39753124 Amplification Colorectal cancer qPCR 18855534 TOP1 chr20 39739396 39739496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOP1 chr20 39740972 41324604 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHD6,EMILIN3,LPIN3,PLCG1,PTPRT,TOP1,ZHX3 chr20 39747050 39747144 Gain and loss Pancreatic cancer SNP array 17952125 TOP1 chr20 39747050 39747144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOP1 chr20 39761674 39761769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 39761676 39761769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39761680 39761769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 39774532 39774653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCG1 chr20 39799126 39799201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCG1 chr20 39813882 39813982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZHX3 chr20 3985597 3987359 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF24 chr20 3988282 3988760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF24 chr20 39938693 39938763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 39974484 39974539 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LPIN3 chr20 3998799 4003812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 3998799 4003812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 40000002 40003305 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr20 40031892 40143404 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CHD6 chr20 40046325 40046424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHD6 chr20 40059185 40061451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD6 chr20 40081300 40081385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHD6 chr20 40102822 40102922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHD6 chr20 40134805 41251971 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CHD6,PTPRT chr20 40134806 41252024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHD6,PTPRT chr20 40134806 41252024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHD6,PTPRT chr20 40134828 41251787 Gain and loss Pancreatic cancer SNP array 17952125 CHD6,PTPRT chr20 40142023 40142123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHD6 chr20 40169308 41378557 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHD6,PTPRT chr20 40258221 40258270 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 40275317 40277736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 40312633 40312682 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 40328201 40429400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 40340323 40340374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 40341490 57703423 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ACOT8,ADA,ADNP,APCDD1L,APCDD1L-AS1,ARFGEF2,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BMP7,C20orf111,C20orf43,C20orf85,CASS4,CBLN4,CD40,CDH22,CEBPB,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DNTTIP1,DOK5,DPM1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM65C,FITM2,GCNT7,GDAP1L1,GNAS,GNAS-AS1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MC3R,MIR296,MIR298,MIR3194,MIR3616,MIR3646,MIR4325,MIR4532,MIR4756,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NPEPL1,OCSTAMP,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PI3,PIGT,PKIG,PLTP,PMEPA1,PPP4R1L,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRSF6,STAU1,STK4,STK4-AS1,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZBP1,ZFP64,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 40342934 40438503 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr20 40353349 40531103 Loss Autism - 20841430 NOT_FOUND chr20 40368522 40368617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 40377132 40377262 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 40377145 40377281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 40429401 40733000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 40429645 40429745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 40447440 40447540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 40469880 40469940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 4049626 4072833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 40531706 40531867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 40555425 40681983 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 40555767 40556023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 40581758 40706080 Deletion Normal Affymetrix 6.0 microarrays 20967226 PTPRT chr20 40599396 40599496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 40600626 40600726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 40612523 40681983 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 40627482 40627545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 40656476 40674266 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 40668748 40669613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 40674266 40684221 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 40684221 40726214 Loss Normal Birdsuite, version 1.5.2 22087296 PTPRT chr20 4071864 4072123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4071877 4072069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 40720720 40720820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 407307 472482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSNK2A1,RBCK1,TBC1D20 chr20 407307 472482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK2A1,RBCK1,TBC1D20 chr20 40755644 40755744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 4077001 4111500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 40772303 40801967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRT chr20 4077450 4116369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 4077450 4116394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4077450 4116394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4082842 4082937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 40870000 52500000 Gain Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 ACOT8,ADA,ADNP,ARFGEF2,ATP9A,B4GALT5,BCAS4,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,DBNDD2,DDX27,DNTTIP1,DPM1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM65C,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3194,MIR3616,MIR3646,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,OCSTAMP,PABPC1L,PARD6B,PCIF1,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 40888611 40888667 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 40888611 40888667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41011403 41011462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41100000 41600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 PTPRT chr20 41100000 49200000 Amplification Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ACOT8,ADA,ARFGEF2,B4GALT5,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,DBNDD2,DDX27,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 49200000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACOT8,ADA,ARFGEF2,B4GALT5,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,DBNDD2,DDX27,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 49200000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ACOT8,ADA,ARFGEF2,B4GALT5,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,DBNDD2,DDX27,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 54400000 Gain Non-small cell lung cancer dChip 21829676 ACOT8,ADA,ADNP,ARFGEF2,ATP9A,B4GALT5,BCAS1,BCAS4,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,CYP24A1,DBNDD2,DDX27,DNTTIP1,DOK5,DPM1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM65C,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3194,MIR3616,MIR3646,MIR4756,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,OCSTAMP,PABPC1L,PARD6B,PCIF1,PFDN4,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 54400000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACOT8,ADA,ADNP,ARFGEF2,ATP9A,B4GALT5,BCAS1,BCAS4,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,CYP24A1,DBNDD2,DDX27,DNTTIP1,DOK5,DPM1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM65C,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3194,MIR3616,MIR3646,MIR4756,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,OCSTAMP,PABPC1L,PARD6B,PCIF1,PFDN4,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Amplification Ductal carcinoma Array CGH 18381933 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Amplification Gastric cancer - 20585902 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Gain Cancer array-based techniques 21183584 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Gain Glioblastoma multiforme aCGH 21080181 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Gain Glioblastoma multiforme conventional CGH 21080181 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Gain Non-small cell lung cancer In situ minichips 20864512 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100000 62435964 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,PTPRT,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SRSF6,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41100077 41100297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRT chr20 4111501 4171500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SMOX chr20 41125380 41125615 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41125380 41125699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41125380 41125712 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 411337 11331480 Gain or loss Breast cancer - 20668451 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 411337 11331480 Gain or loss Cancer - 20668451 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 411337 11331480 Gain or loss Lung cancer - 20668451 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 411337 11331480 Gain or loss Ovarian cancer - 20668451 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 411337 11331480 Gain or loss Pancreas cancer - 20668451 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 411337 11331480 Gain or loss Prostate cancer - 20668451 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,JAG1,LAMP5,LINC00654,LINC00658,LOC100289473,LOC339593,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 411340 472482 Gain and loss Pancreatic cancer SNP array 17952125 CSNK2A1,RBCK1,TBC1D20 chr20 41154342 41170318 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTPRT chr20 41162911 41163648 Loss Normal 244K array 17666407 PTPRT chr20 41168277 41168327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41181551 41181600 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 PTPRT chr20 41202532 44594508 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACOT8,ADA,C20orf111,CTSA,DBNDD2,DNTTIP1,EPPIN,EPPIN-WFDC6,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3646,MYBL2,NEURL2,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZNF335,ZSWIM1,ZSWIM3 chr20 41224677 41224861 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRT chr20 41262998 41263098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41265835 41265974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 412702 412702 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr20 41284260 41284561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41284260 41284563 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41284260 41284563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41292814 41293282 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41292814 41293305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41299043 41331457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRT chr20 41324604 41870684 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 PTPRT chr20 41330412 41330494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41366609 41366733 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41366609 41366733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41385501 41549000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 41386218 41386267 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 PTPRT chr20 4141694 4871286 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADRA1D,LOC728228,PRND,PRNP,PRNT,RASSF2,SLC23A2,SMOX chr20 41450696 41451095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41456101 41461100 Deletion Glioma mate-paired sequence 20126413 PTPRT chr20 41458009 41459206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRT chr20 41458027 41459224 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PTPRT chr20 41467527 41467622 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41467527 41467632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41467527 41467644 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 4147340 4147430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMOX chr20 41485250 41485592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 4149277 4177659 Gain or loss Breast cancer - 20668451 LOC728228,SMOX chr20 4149277 4177659 Gain or loss Cancer - 20668451 LOC728228,SMOX chr20 4149277 4177659 Gain or loss Lung cancer - 20668451 LOC728228,SMOX chr20 4149277 4177659 Gain or loss Ovarian cancer - 20668451 LOC728228,SMOX chr20 4149277 4177659 Gain or loss Pancreas cancer - 20668451 LOC728228,SMOX chr20 4149277 4177659 Gain or loss Prostate cancer - 20668451 LOC728228,SMOX chr20 4149278 4177659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728228,SMOX chr20 4149278 4177659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728228,SMOX chr20 41496366 41530017 Loss Normal Birdsuite, version 1.5.2 22087296 PTPRT chr20 4149816 4177659 Gain and loss Pancreatic cancer SNP array 17952125 LOC728228,SMOX chr20 41499 169942 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DEFB125,DEFB126,DEFB127,DEFB128 chr20 41499 5809506 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf96,CDC25B,CDS2,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HSPA12B,IDH3B,ITPA,LINC00654,LINC00658,LOC100289473,LOC643406,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 41513213 41513314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41513215 41513314 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41519932 41525655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41519932 41525655 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41519932 41525655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41521264 41546784 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTPRT chr20 4153189 4153248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMOX chr20 41534750 41534850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41535067 41535172 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41535067 41535173 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41535067 41535173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41541064 41544358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRT chr20 41549001 41575500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 41557621 41557721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41573427 41573527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41575501 41577500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 41576467 41603948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41576467 41603948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41576488 41603949 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41577501 41627000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 4158282 5251028 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADRA1D,CDS2,LOC728228,PCNA,PCNA-AS1,PRND,PRNP,PRNT,RASSF2,SLC23A2,SMOX,TMEM230 chr20 41585315 41585626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41596826 41596858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41600000 45800000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ACOT8,ADA,C20orf111,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 41600000 45800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT8,ADA,C20orf111,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 41600000 45800000 Copy number Normal - 20680643 ACOT8,ADA,C20orf111,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 41600000 45800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOT8,ADA,C20orf111,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 41600000 45800000 Gain Cervical cancer Array CGH and SNP array 16585170 ACOT8,ADA,C20orf111,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 41600000 45800000 Loss Developmental delay Human whole genome oligonucleotide microarray kits 248K 21373258 ACOT8,ADA,C20orf111,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 41600000 49200000 Copy number Breast cancer - 21806811 ACOT8,ADA,ARFGEF2,B4GALT5,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,DBNDD2,DDX27,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41600000 49200000 Deletion Mental retardation FISH 17901693 ACOT8,ADA,ARFGEF2,B4GALT5,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,DBNDD2,DDX27,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41600000 54400000 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ACOT8,ADA,ADNP,ARFGEF2,ATP9A,B4GALT5,BCAS1,BCAS4,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,CYP24A1,DBNDD2,DDX27,DNTTIP1,DOK5,DPM1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM65C,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3194,MIR3616,MIR3646,MIR4756,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,OCSTAMP,PABPC1L,PARD6B,PCIF1,PFDN4,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41602204 41647687 Gain or loss Breast cancer - 20668451 PTPRT chr20 41602204 41647687 Gain or loss Cancer - 20668451 PTPRT chr20 41602204 41647687 Gain or loss Lung cancer - 20668451 PTPRT chr20 41602204 41647687 Gain or loss Ovarian cancer - 20668451 PTPRT chr20 41602204 41647687 Gain or loss Pancreas cancer - 20668451 PTPRT chr20 41602204 41647687 Gain or loss Prostate cancer - 20668451 PTPRT chr20 41609750 41609840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41621022 41647731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41621022 41647731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41627001 41628500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 41627260 41647686 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41628501 41705500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 41643960 41660426 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTPRT chr20 41649944 41660426 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTPRT chr20 41649944 41680955 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PTPRT chr20 41652991 41709275 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41652993 41709276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41652993 41709276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41676795 41676869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41683239 41683339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41700000 42100000 Amplification Breast cancer BAC-arrays 17001317 PTPRT,SRSF6 chr20 41700000 42100000 Amplification Breast cancer Scanning and OncoBAC array CGH, Affymetrix U133A arrays 17157792 PTPRT,SRSF6 chr20 41700000 42100000 Gain Barrett's esophagus FISH 18559552 PTPRT,SRSF6 chr20 41700000 49800000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ACOT8,ADA,ADNP,ARFGEF2,B4GALT5,BCAS4,C20orf111,CD40,CDH22,CEBPB,CSE1L,CTSA,DBNDD2,DDX27,DNTTIP1,DPM1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM65C,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MIR3616,MIR3646,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PARD6B,PCIF1,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZMYND8,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41700000 55000000 Gain Lung cancer array CGH 16740712 ACOT8,ADA,ADNP,ARFGEF2,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,C20orf111,CASS4,CBLN4,CD40,CDH22,CEBPB,CSE1L,CSTF1,CTSA,CYP24A1,DBNDD2,DDX27,DNTTIP1,DOK5,DPM1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM210B,FAM65C,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNS1,L3MBTL1,LINC00494,LINC00651,LOC100131496,LOC100505783,LOC284751,LOC79015,MATN4,MC3R,MIR3194,MIR3616,MIR3646,MIR4756,MIR645,MKRN7P,MMP9,MOCS3,MYBL2,NCOA3,NCOA5,NEURL2,NFATC2,OCSTAMP,PABPC1L,PARD6B,PCIF1,PFDN4,PI3,PIGT,PKIG,PLTP,PREX1,PTGIS,PTPN1,PTPRT,R3HDML,RBPJL,RIMS4,RNF114,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SRSF6,STAU1,STK4,STK4-AS1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TMEM189,TMEM189-UBE2V1,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TSHZ2,TTPAL,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZFP64,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 41703127 41738961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPRT chr20 41703601 41709600 Deletion Glioma mate-paired sequence 20126413 PTPRT chr20 41704335 41706581 Copy number Alcoholism Illumina Human Hap671W-Quad BeadChip 21790672 PTPRT chr20 41704335 41706581 Copy number Normal - 21790672 PTPRT chr20 41705279 41708001 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRT chr20 41705501 41708000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 41705581 41707310 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PTPRT chr20 41708001 41771000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 41709629 41709729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41713804 41713904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41714577 41715348 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41714577 41715348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 4171501 4173000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 41725376 43504939 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADA,C20orf111,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,L3MBTL1,LOC100505783,LOC79015,MIR3646,MYBL2,PKIG,PTPRT,R3HDML,RIMS4,SERINC3,SGK2,SRSF6,TOX2,TTPAL,WISP2 chr20 41729123 41778536 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41729179 41778537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41729179 41778537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41736985 41737084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRT chr20 41770301 44224400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADA,C20orf111,DBNDD2,EPPIN,EPPIN-WFDC6,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3646,MYBL2,PABPC1L,PI3,PIGT,PKIG,PTPRT,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLPI,SPINT3,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TOMM34,TOX2,TP53TG5,TTPAL,WFDC12,WFDC2,WFDC5,WFDC6,WFDC8,WISP2,YWHAB chr20 41771001 41784000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRT chr20 41788216 41789056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41788216 41789056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRT chr20 41788302 41788748 Gain and loss Pancreatic cancer SNP array 17952125 PTPRT chr20 41858491 41858597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 41858491 41858597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 41887694 44153298 Gain Anaplastic thyroid cancer 33K microarrays 18753363 ADA,C20orf111,DBNDD2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100505783,LOC79015,MATN4,MIR3646,MYBL2,PABPC1L,PI3,PIGT,PKIG,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLPI,SPINT3,SRSF6,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TOMM34,TOX2,TP53TG5,TTPAL,WFDC12,WFDC2,WFDC5,WISP2,YWHAB chr20 41912701 41918900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 41914683 41917196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 41914857 41917438 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 41951918 41952099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 41952104 41952335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 41954875 41954970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 41976905 42131668 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SRSF6 chr20 41976906 42131670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRSF6 chr20 41976906 42131670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRSF6 chr20 41977001 41979500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 41979501 42875000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf111,GTSF1L,IFT52,JPH2,L3MBTL1,LOC100505783,MYBL2,SGK2,SRSF6,TOX2 chr20 41986669 41986769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 42007759 42131666 Gain and loss Pancreatic cancer SNP array 17952125 SRSF6 chr20 42010484 42010584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 42069302 42069592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42069302 42069593 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42069302 42069593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42100000 46400000 Amplification Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 ACOT8,ADA,C20orf111,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100131496,LOC100505783,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZMYND8,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 42100000 46400000 Amplification Colorectal cancer PCR 16912164 ACOT8,ADA,C20orf111,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,L3MBTL1,LOC100131496,LOC100505783,LOC79015,MATN4,MIR3616,MIR3646,MKRN7P,MMP9,MYBL2,NCOA3,NCOA5,NEURL2,OCSTAMP,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,STK4,STK4-AS1,SULF2,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZMYND8,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 42100000 63025520 Gain Gastric cancer 5K BAC array CGH 17908304 ABHD16B,ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf111,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNAJC5,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FITM2,FLJ16779,GATA5,GCNT7,GDAP1L1,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,GTSF1L,HAR1A,HAR1B,HNF4A,HRH3,IFT52,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,L3MBTL1,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100505783,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MMP9,MOCS3,MTRNR2L3,MYBL2,MYT1,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPBWR2,NPEPL1,NTSR1,OCSTAMP,OGFR,OPRL1,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PCMTD2,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRPF6,PSMA7,PTGIS,PTK6,PTPN1,R3HDML,RAB22A,RAE1,RBM38,RBPJL,RGS19,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SOX18,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCEA2,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TOX2,TP53RK,TP53TG5,TPD52L2,TSHZ2,TTPAL,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 42109540 42109938 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 4212010 5982482 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADRA1D,C20orf196,CDS2,CHGB,GPCPD1,LINC00654,LINC00658,LOC643406,MCM8,PCNA,PCNA-AS1,PRND,PRNP,PRNT,PROKR2,RASSF2,SLC23A2,TMEM230,TRMT6 chr20 42121857 42135634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 42173750 42249632 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 IFT52,SGK2 chr20 42173751 42249632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT52,SGK2 chr20 42173751 42249632 Gain and loss Pancreatic cancer SNP array 17952125 IFT52,SGK2 chr20 42173751 42249632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT52,SGK2 chr20 42174098 42174163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 42184075 42232494 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 IFT52,SGK2 chr20 42188467 44495323 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 ACOT8,ADA,C20orf111,DBNDD2,DNTTIP1,EPPIN,EPPIN-WFDC6,FITM2,GDAP1L1,GTSF1L,HNF4A,IFT52,JPH2,KCNK15,KCNS1,LOC100505783,LOC79015,MATN4,MIR3646,MYBL2,PABPC1L,PI3,PIGT,PKIG,R3HDML,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SGK2,SLPI,SNX21,SPINT3,SPINT4,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TOX2,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZSWIM3 chr20 42196057 42196157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGK2 chr20 42258549 42272845 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 IFT52 chr20 42258549 42272845 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 IFT52 chr20 42258550 42272845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT52 chr20 42258550 42272845 Gain and loss Pancreatic cancer SNP array 17952125 IFT52 chr20 42258550 42272845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT52 chr20 4226434 4226527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADRA1D chr20 42295708 42345122 Amplification Breast cancer BAC-arrays 17001317 MYBL2 chr20 42295708 42345122 Amplification Colorectal cancer GISTIC software 19359472 MYBL2 chr20 42309321 42342427 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MYBL2 chr20 42309322 42342425 Gain and loss Pancreatic cancer SNP array 17952125 MYBL2 chr20 42309322 42342427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYBL2 chr20 42309322 42342427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYBL2 chr20 42326971 42327855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYBL2 chr20 42328480 42358583 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GTSF1L,MYBL2 chr20 42364895 42373223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42366483 42400968 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 42368610 42373303 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 42368611 42373303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42368611 42373303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4237140 4270786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 42399040 42413289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42399040 42413289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42399212 42412846 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42406893 42406961 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42406893 42406983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42406893 42406985 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42417504 42419895 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42417854 42493444 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 42417855 42493444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42417855 42493444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42429116 42429175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 42458131 42458231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 42463338 42493444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42466777 42467133 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 NOT_FOUND chr20 42498676 43317796 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADA,C20orf111,FITM2,GDAP1L1,HNF4A,JPH2,LOC100505783,LOC79015,MIR3646,PKIG,R3HDML,SERINC3,TOX2,TTPAL chr20 42514038 42527398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42514038 42527398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42514165 42527398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42523195 42523338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42523195 42523338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42528618 42528896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42528911 42717549 Gain small cell lung cancer Real-time Quantitative PCR 17426248 TOX2 chr20 42537958 42556631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOX2 chr20 42537958 42556631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOX2 chr20 42537960 42556658 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TOX2 chr20 42537961 42552626 Gain and loss Pancreatic cancer SNP array 17952125 TOX2 chr20 42537961 42556658 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 TOX2 chr20 42558277 42584140 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TOX2 chr20 42558279 42584140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOX2 chr20 42558279 42584140 Gain and loss Pancreatic cancer SNP array 17952125 TOX2 chr20 42558279 42584140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOX2 chr20 42564247 42605047 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TOX2 chr20 42564247 42621546 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TOX2 chr20 42571371 42605452 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TOX2 chr20 42593771 42593921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOX2 chr20 42593849 42681092 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TOX2 chr20 42593850 42686302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOX2 chr20 42593850 42686302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOX2 chr20 42657398 42657498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOX2 chr20 42676363 42681091 Gain and loss Pancreatic cancer SNP array 17952125 TOX2 chr20 42681576 42713790 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TOX2 chr20 42681578 42713790 Gain and loss Pancreatic cancer SNP array 17952125 TOX2 chr20 42681578 42713795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOX2 chr20 42681578 42713795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOX2 chr20 42699122 42699222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 42703012 42749636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 JPH2 chr20 42708515 42711720 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 42718510 42733725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42720647 42751395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 JPH2 chr20 42721151 42725506 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42728970 42729287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 42729894 42731305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 42729950 42730035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42729950 42730035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42733290 42733338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 42738760 42769954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 JPH2 chr20 42739045 42742188 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 JPH2 chr20 42739920 42774937 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 JPH2 chr20 42754474 42754544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JPH2 chr20 42760727 42762937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 JPH2 chr20 42776888 42789866 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 JPH2 chr20 42776899 42790564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JPH2 chr20 42776899 42790564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JPH2 chr20 42777299 42789865 Gain and loss Pancreatic cancer SNP array 17952125 JPH2 chr20 42807901 42813082 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 JPH2 chr20 42807902 42813078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JPH2 chr20 42807902 42813078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JPH2 chr20 42807902 42813080 Gain and loss Pancreatic cancer SNP array 17952125 JPH2 chr20 42813862 42872326 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf111,JPH2,LOC100505783 chr20 42813863 42872326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf111,JPH2,LOC100505783 chr20 42813863 42872326 Gain and loss Pancreatic cancer SNP array 17952125 C20orf111,JPH2,LOC100505783 chr20 42813863 42872326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf111,JPH2,LOC100505783 chr20 42909384 42937701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FITM2,GDAP1L1 chr20 42910837 43429880 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADA,FITM2,HNF4A,KCNK15,LOC79015,MIR3646,PKIG,R3HDML,RIMS4,SERINC3,TTPAL,WISP2 chr20 42910837 43744158 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADA,FITM2,HNF4A,KCNK15,KCNS1,LOC79015,MIR3646,PABPC1L,PKIG,R3HDML,RIMS4,SERINC3,STK4,STK4-AS1,TOMM34,TTPAL,WFDC5,WISP2,YWHAB chr20 42942891 42943189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 42942893 42943189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 42947757 42970575 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 R3HDML chr20 42947757 42970575 Gain or loss Breast cancer - 20668451 R3HDML chr20 42947757 42970575 Gain or loss Cancer - 20668451 R3HDML chr20 42947757 42970575 Gain or loss Lung cancer - 20668451 R3HDML chr20 42947757 42970575 Gain or loss Ovarian cancer - 20668451 R3HDML chr20 42947757 42970575 Gain or loss Pancreas cancer - 20668451 R3HDML chr20 42947757 42970575 Gain or loss Prostate cancer - 20668451 R3HDML chr20 42947758 42970574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 R3HDML chr20 42947758 42970574 Gain and loss Pancreatic cancer SNP array 17952125 R3HDML chr20 42947758 42970574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 R3HDML chr20 42972116 43001376 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 HNF4A,R3HDML chr20 42972117 43021090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNF4A,R3HDML chr20 42972199 42983786 Gain and loss Pancreatic cancer SNP array 17952125 R3HDML chr20 42986216 43001371 Gain and loss Pancreatic cancer SNP array 17952125 HNF4A chr20 42986978 42987152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HNF4A chr20 43004184 43022528 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 HNF4A chr20 43004186 43022528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNF4A chr20 43004186 43022528 Gain and loss Pancreatic cancer SNP array 17952125 HNF4A chr20 43004186 43022528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNF4A chr20 43027682 43027731 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 HNF4A chr20 43028533 43142007 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028533 43142007 Gain or loss Breast cancer - 20668451 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028533 43142007 Gain or loss Cancer - 20668451 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028533 43142007 Gain or loss Lung cancer - 20668451 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028533 43142007 Gain or loss Ovarian cancer - 20668451 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028533 43142007 Gain or loss Pancreas cancer - 20668451 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028533 43142007 Gain or loss Prostate cancer - 20668451 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028534 43142003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028534 43142003 Gain and loss Pancreatic cancer SNP array 17952125 HNF4A,MIR3646,SERINC3,TTPAL chr20 43028534 43142003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNF4A,MIR3646,SERINC3,TTPAL chr20 43063207 44606609 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ACOT8,ADA,CTSA,DBNDD2,DNTTIP1,EPPIN,EPPIN-WFDC6,KCNK15,KCNS1,LOC79015,MATN4,NEURL2,PABPC1L,PCIF1,PI3,PIGT,PKIG,PLTP,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SERINC3,SLPI,SNX21,SPATA25,SPINT3,SPINT4,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TNNC2,TOMM34,TP53TG5,TTPAL,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YWHAB,ZNF335,ZSWIM1,ZSWIM3 chr20 43076668 43076746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 43085308 43086308 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr20 43085308 43086308 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 4309844 4309944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 4312514 4312613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 43138377 62435964 Gain Wilms tumour 250K Genotyping Arrays 21544195 ACOT8,ADA,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DBNDD2,DDX27,DIDO1,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,LAMA5,LIME1,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100506384,LOC284751,LOC284757,LOC63930,LOC79015,LSM14B,MATN4,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MKRN7P,MMP9,MOCS3,MTRNR2L3,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PABPC1L,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PI3,PIGT,PKIG,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,RAB22A,RAE1,RBM38,RBPJL,RIMS4,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SDC4,SEMG1,SEMG2,SERINC3,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,SPO11,SRMS,SS18L1,STAU1,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,SYS1,SYS1-DBNDD2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TOMM34,TP53RK,TP53TG5,TSHZ2,TUBB1,UBE2C,UBE2V1,VAPB,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 43154363 43163167 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PKIG chr20 43154365 43163167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKIG chr20 43154365 43163167 Gain and loss Pancreatic cancer SNP array 17952125 PKIG chr20 43154365 43163167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKIG chr20 43171506 43177217 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PKIG chr20 43171507 43177217 Gain and loss Pancreatic cancer SNP array 17952125 PKIG chr20 43171526 43177227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKIG chr20 43171526 43177227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKIG chr20 431850 446536 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TBC1D20 chr20 43185480 43186520 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PKIG chr20 43185481 43186520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKIG chr20 43185481 43186520 Gain and loss Pancreatic cancer SNP array 17952125 PKIG chr20 43185481 43186520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKIG chr20 43220022 43220172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKIG chr20 43236911 43238599 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PKIG chr20 43236912 43238598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKIG chr20 43236912 43238598 Gain and loss Pancreatic cancer SNP array 17952125 PKIG chr20 43236912 43238598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKIG chr20 43269087 43271823 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ADA chr20 43269087 43286513 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ADA,LOC79015 chr20 43269088 43270741 Gain and loss Pancreatic cancer SNP array 17952125 ADA chr20 43269088 43271822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADA chr20 43269088 43271822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADA chr20 43283424 43286513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC79015 chr20 43283424 43286513 Gain and loss Pancreatic cancer SNP array 17952125 LOC79015 chr20 43283424 43286513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC79015 chr20 43305482 43305599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 43314292 43316620 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43314293 43316620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43314293 43316620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43336042 43337042 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 43355001 43380500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNK15,RIMS4,WISP2 chr20 43355499 43370334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WISP2 chr20 43355499 43370334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WISP2 chr20 43355500 43370583 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 WISP2 chr20 43355530 43370583 Gain and loss Pancreatic cancer SNP array 17952125 WISP2 chr20 43368904 43379878 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 KCNK15 chr20 43368905 43379876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNK15 chr20 43368905 43379876 Gain and loss Pancreatic cancer SNP array 17952125 KCNK15 chr20 43368905 43379876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK15 chr20 43384415 43384487 Gain and loss Pancreatic cancer SNP array 17952125 RIMS4 chr20 43384415 43384487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMS4 chr20 43387342 43410478 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RIMS4 chr20 43387345 43410478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMS4 chr20 43387345 43410478 Gain and loss Pancreatic cancer SNP array 17952125 RIMS4 chr20 43387345 43410478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMS4 chr20 43396995 43397092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RIMS4 chr20 43402020 43602518 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 PABPC1L,RIMS4,STK4,STK4-AS1,TOMM34,YWHAB chr20 43402257 44173083 LOH Normal High-resolution SNP genotyping 21211785 DBNDD2,EPPIN,EPPIN-WFDC6,KCNS1,MATN4,PABPC1L,PI3,PIGT,RBPJL,RIMS4,SDC4,SEMG1,SEMG2,SLPI,SPINT3,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TOMM34,TP53TG5,WFDC12,WFDC2,WFDC5,WFDC6,YWHAB chr20 43423991 43431263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMS4 chr20 43423991 43431263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMS4 chr20 43425114 43438138 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RIMS4 chr20 43425114 43472661 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RIMS4 chr20 43425196 43472659 Gain and loss Pancreatic cancer SNP array 17952125 RIMS4 chr20 43435933 43440371 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RIMS4 chr20 43435942 43440447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMS4 chr20 43435942 43440447 Gain and loss Pancreatic cancer SNP array 17952125 RIMS4 chr20 43435942 43440447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMS4 chr20 43450401 43450759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4346587 4669522 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PRNP chr20 43466000 43849000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 KCNS1,PABPC1L,PI3,SEMG1,STK4,STK4-AS1,TOMM34,WFDC12,WFDC5,YWHAB chr20 43468085 43472664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43468085 43472664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43478137 43488298 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43478138 43488298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43478138 43488298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43478192 43488296 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43484285 43484569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43509824 44267345 LOH Normal High-resolution SNP genotyping 21211785 DBNDD2,EPPIN,EPPIN-WFDC6,KCNS1,MATN4,PABPC1L,PI3,PIGT,RBPJL,SDC4,SEMG1,SEMG2,SLPI,SPINT3,STK4,STK4-AS1,SYS1,SYS1-DBNDD2,TOMM34,TP53TG5,WFDC10A,WFDC12,WFDC2,WFDC5,WFDC6,WFDC8,WFDC9,YWHAB chr20 43523724 43523776 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 YWHAB chr20 43531807 43543586 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PABPC1L,YWHAB chr20 43531808 43543585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PABPC1L,YWHAB chr20 43531808 43543585 Gain and loss Pancreatic cancer SNP array 17952125 PABPC1L,YWHAB chr20 43531808 43543585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PABPC1L,YWHAB chr20 43552872 43553725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PABPC1L chr20 4355305 4388279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 4357412 4381254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 43574514 43577678 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TOMM34 chr20 43574515 43577678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOMM34 chr20 43574515 43577678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOMM34 chr20 43574705 43574899 Gain and loss Pancreatic cancer SNP array 17952125 TOMM34 chr20 43590415 43849712 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1159K arrays 21546498 KCNS1,PI3,SEMG1,STK4,STK4-AS1,WFDC12,WFDC5 chr20 43596249 43601548 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 STK4 chr20 43596250 43601548 Gain and loss Pancreatic cancer SNP array 17952125 STK4 chr20 43596250 43609805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43596250 43609805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43598849 43599067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43602036 43602280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43602678 43609442 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 STK4 chr20 43602681 43609442 Gain and loss Pancreatic cancer SNP array 17952125 STK4 chr20 43605486 45033687 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACOT8,CD40,CDH22,CTSA,DBNDD2,DNTTIP1,ELMO2,EPPIN,EPPIN-WFDC6,KCNS1,MATN4,MMP9,NCOA5,NEURL2,PCIF1,PI3,PIGT,PLTP,RBPJL,SDC4,SEMG1,SEMG2,SLC12A5,SLC35C2,SLPI,SNX21,SPATA25,SPINT3,SPINT4,STK4,SYS1,SYS1-DBNDD2,TNNC2,TP53TG5,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,ZNF335,ZSWIM1,ZSWIM3 chr20 43613204 43641379 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 STK4 chr20 43613205 43641379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43613205 43641379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43613815 43641379 Gain and loss Pancreatic cancer SNP array 17952125 STK4 chr20 43617751 43617953 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 STK4 chr20 43621809 43621925 Gain and loss Pancreatic cancer SNP array 17952125 STK4 chr20 43621811 43621928 Gain and loss Pancreatic cancer SNP array 17952125 STK4 chr20 43621811 43621929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43630043 43630860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43630708 43921754 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1162K arrays 21546498 KCNS1,PI3,SEMG1,SEMG2,SLPI,STK4,WFDC12,WFDC5 chr20 43637476 43640713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STK4 chr20 43637797 43641213 Loss Normal 244K array 17666407 STK4 chr20 4366988 4387799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 43669991 43693321 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 STK4 chr20 43669992 43693321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43669992 43693321 Gain and loss Pancreatic cancer SNP array 17952125 STK4 chr20 43669992 43693321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 4368961 4380006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 43691798 43693245 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 STK4 chr20 43691798 43693249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43691798 43693249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43691799 43693245 Gain and loss Pancreatic cancer SNP array 17952125 STK4 chr20 43702539 43703423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK4 chr20 43702542 43703423 Gain and loss Pancreatic cancer SNP array 17952125 STK4 chr20 43710615 43732292 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 KCNS1 chr20 43710616 43732323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNS1 chr20 43710616 43732323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNS1 chr20 43710617 43779968 Gain and loss Pancreatic cancer SNP array 17952125 KCNS1,WFDC12,WFDC5 chr20 43719991 43720090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 4374236 4387157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 43746703 43767072 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 WFDC12 chr20 43746704 43767072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WFDC12 chr20 43746704 43767072 Gain and loss Pancreatic cancer SNP array 17952125 WFDC12 chr20 43746704 43767072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WFDC12 chr20 43764068 43770870 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43764069 43770870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43764069 43770870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43764069 43770870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43784136 43812280 Loss Normal 244K array 17666407 PI3 chr20 43784401 43787749 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43784402 43787882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43784402 43787882 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43784402 43787882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43792820 43792931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 43807783 43808333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43811968 43812120 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43811968 43812120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43818554 43818649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 43822388 43853954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMG1,SEMG2 chr20 43822388 43853954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMG1,SEMG2 chr20 43835846 43835966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SEMG1 chr20 43836253 43853954 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SEMG1,SEMG2 chr20 43836254 43853954 Gain and loss Pancreatic cancer SNP array 17952125 SEMG1,SEMG2 chr20 43840744 43840868 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43840744 43840868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43840744 43840869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43844786 43845086 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 43844955 43845955 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 43850000 55730000 Loss Acute lymphoblastic leukemia - 21339820 ACOT8,ADNP,ARFGEF2,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,C20orf43,CASS4,CBLN4,CD40,CDH22,CEBPB,CSE1L,CSTF1,CTSA,CYP24A1,DBNDD2,DDX27,DNTTIP1,DOK5,DPM1,ELMO2,EPPIN,EPPIN-WFDC6,EYA2,FAM209A,FAM209B,FAM210B,FAM65C,GCNT7,KCNB1,KCNG1,LINC00494,LINC00651,LOC100131496,LOC284751,MATN4,MC3R,MIR3194,MIR3616,MIR4756,MIR645,MKRN7P,MMP9,MOCS3,NCOA3,NCOA5,NEURL2,NFATC2,OCSTAMP,PARD6B,PCIF1,PFDN4,PIGT,PLTP,PREX1,PTGIS,PTPN1,RBPJL,RNF114,SALL4,SDC4,SEMG2,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SLC9A8,SLPI,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SPATA2,SPATA25,SPINT3,SPINT4,STAU1,SULF2,SUMO1P1,SYS1,SYS1-DBNDD2,TFAP2C,TMEM189,TMEM189-UBE2V1,TNNC2,TP53RK,TP53TG5,TSHZ2,UBE2C,UBE2V1,WFDC10A,WFDC10B,WFDC11,WFDC13,WFDC2,WFDC3,WFDC6,WFDC8,WFDC9,ZFP64,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF663,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 43853982 43873473 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43853983 43873471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43853983 43873471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43853983 43873471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43858684 43858783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 43872516 43872616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 43874001 43952000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MATN4,RBPJL,SLPI chr20 43874661 43879003 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43874662 43879001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43874662 43879003 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 43874662 43879003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43874662 43879003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43878964 43879031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 43885260 43895791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43885260 43895791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43885261 43889360 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43885264 43889360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43895876 43905321 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43895877 43905321 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43895877 43908331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43895877 43908331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43903767 43919442 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43903768 43919442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43903768 43919442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43903768 43919442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43919663 43941174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MATN4,RBPJL chr20 43919663 43941174 Gain and loss Pancreatic cancer SNP array 17952125 MATN4,RBPJL chr20 43919663 43941174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MATN4,RBPJL chr20 43919668 43941176 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MATN4,RBPJL chr20 43919668 43941176 Copy number Normal quantitative real-time TaqManPCR 21164027 MATN4,RBPJL chr20 43928577 43928655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MATN4 chr20 4393322 4397527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 43943273 43947312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBPJL chr20 43943273 43947312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBPJL chr20 43943286 43947312 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RBPJL chr20 43943287 43947311 Gain and loss Pancreatic cancer SNP array 17952125 RBPJL chr20 43948536 43949645 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43948538 43949645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43948538 43949645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43948538 43949645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43950673 43953308 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 43950674 43953308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43950674 43953308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 43950689 43953333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 43952001 43954000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDC4 chr20 43952190 43960863 Gain and loss Pancreatic cancer SNP array 17952125 SDC4 chr20 43952512 43960866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDC4 chr20 43952512 43960866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDC4 chr20 4395298 43960865 Copy number Autism exome sequencing 22495311 AAR2,ABHD12,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,ANKRD5,APMAP,ARHGAP40,ASIP,ASXL1,BANF2,BCL2L1,BFSP1,BLCAP,BMP2,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf196,C20orf203,C20orf24,C20orf26,C20orf72,C20orf78,C20orf79,C20orf94,CBFA2T2,CD93,CDK5RAP1,CDS2,CEP250,CHD6,CHGB,CHMP4B,COMMD7,COX4I2,CPNE1,CRLS1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EDEM2,EIF2S2,EIF6,EMILIN3,ENTPD6,EPB41L1,ERGIC3,ESF1,FAM182A,FAM182B,FAM83C,FAM83D,FER1L4,FERMT1,FITM2,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GGTLC1,GHRH,GINS1,GPCPD1,GSS,GTSF1L,GZF1,HAO1,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,JAG1,JPH2,KCNK15,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMP5,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC100505783,LOC149950,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC643406,LOC79015,LPIN3,LRRN4,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MCM8,MIR3192,MIR3193,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MKKS,MLLT10P1,MMP24,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NXT1,OTOR,OVOL2,PABPC1L,PAK7,PAX1,PCNA,PCNA-AS1,PCSK2,PDRG1,PET117,PHF20,PI3,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,POFUT1,POLR3F,PPP1R16B,PRND,PRNP,PRNT,PROCR,PROKR2,PSIMCT-1,PTPRT,PXMP4,PYGB,R3HDML,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RIN2,ROMO1,RPN2,RPRD1B,RRBP1,SAMHD1,SCAND1,SDC4,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC23A2,SLC24A3,SLC32A1,SLPI,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD17,SNRPB2,SNTA1,SNX5,SOGA1,SPAG4,SPTLC3,SRC,SRSF6,SSTR4,STK4,STK4-AS1,SUN5,SYNDIG1,TASP1,TGIF2,TGIF2-C20ORF24,TGM2,THBD,TM9SF4,TMEM230,TMX4,TOMM34,TOP1,TOX2,TP53INP2,TPX2,TRMT6,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UQCC,VSTM2L,VSX1,WFDC12,WFDC5,WISP2,XKR7,XRN2,YWHAB,ZHX3,ZNF133,ZNF337,ZNF341 chr20 43952997 43960865 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SDC4 chr20 43952998 43960865 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 SDC4 chr20 43954001 44009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDC4,SYS1,SYS1-DBNDD2,TP53TG5 chr20 43955312 43955392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SDC4 chr20 43960803 43974193 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SDC4 chr20 43960804 43974194 Gain and loss Pancreatic cancer SNP array 17952125 SDC4 chr20 43960806 43974226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDC4 chr20 43960806 43974226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDC4 chr20 43965159 43975272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SDC4 chr20 43968755 43969190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SDC4 chr20 43996577 43996984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYS1,SYS1-DBNDD2 chr20 43996577 43996984 Gain and loss Pancreatic cancer SNP array 17952125 SYS1,SYS1-DBNDD2 chr20 43996577 43996984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYS1,SYS1-DBNDD2 chr20 43996723 44010069 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SYS1,SYS1-DBNDD2,TP53TG5 chr20 43996724 44010064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYS1,SYS1-DBNDD2,TP53TG5 chr20 43996724 44010064 Gain and loss Pancreatic cancer SNP array 17952125 SYS1,SYS1-DBNDD2,TP53TG5 chr20 43996724 44010064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYS1,SYS1-DBNDD2,TP53TG5 chr20 43999652 43999727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYS1,SYS1-DBNDD2 chr20 44009001 44012500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYS1-DBNDD2 chr20 44010698 44034240 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SYS1-DBNDD2 chr20 44010700 44034240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYS1-DBNDD2 chr20 44010700 44034240 Gain and loss Pancreatic cancer SNP array 17952125 SYS1-DBNDD2 chr20 44010700 44034240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYS1-DBNDD2 chr20 44012501 44422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DBNDD2,DNTTIP1,EPPIN,EPPIN-WFDC6,PIGT,SPINT3,SPINT4,SYS1-DBNDD2,WFDC10A,WFDC10B,WFDC11,WFDC13,WFDC2,WFDC3,WFDC6,WFDC8,WFDC9 chr20 44037295 44038121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DBNDD2,SYS1-DBNDD2 chr20 44070317 44704780 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACOT8,CTSA,DNTTIP1,EPPIN,EPPIN-WFDC6,MMP9,NCOA5,NEURL2,PCIF1,PLTP,SLC12A5,SNX21,SPATA25,SPINT3,SPINT4,TNNC2,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC13,WFDC2,WFDC3,WFDC6,WFDC8,WFDC9,ZNF335,ZSWIM1,ZSWIM3 chr20 44070953 44078607 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 44070954 44078606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44070954 44078606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 44070954 44078606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44075548 44084119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44077518 44077638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44084975 44085064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 44091242 44122196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WFDC2 chr20 44091242 44122196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WFDC2 chr20 44091244 44122196 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 WFDC2 chr20 44091245 44122196 Gain and loss Pancreatic cancer SNP array 17952125 WFDC2 chr20 44123032 44151987 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SPINT3 chr20 44123043 44151959 Gain and loss Pancreatic cancer SNP array 17952125 SPINT3 chr20 44123043 44151987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPINT3 chr20 44123043 44151987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPINT3 chr20 44126322 44398283 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EPPIN,EPPIN-WFDC6,SPINT3,SPINT4,WFDC10A,WFDC10B,WFDC11,WFDC13,WFDC6,WFDC8,WFDC9 chr20 44155408 44156408 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 44161564 44162222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 44161564 44162222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44173391 44173443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPPIN,EPPIN-WFDC6 chr20 44180312 44191791 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 WFDC8 chr20 44180312 44191791 Gain or loss Breast cancer - 20668451 WFDC8 chr20 44180312 44191791 Gain or loss Cancer - 20668451 WFDC8 chr20 44180312 44191791 Gain or loss Lung cancer - 20668451 WFDC8 chr20 44180312 44191791 Gain or loss Ovarian cancer - 20668451 WFDC8 chr20 44180312 44191791 Gain or loss Pancreas cancer - 20668451 WFDC8 chr20 44180312 44191791 Gain or loss Prostate cancer - 20668451 WFDC8 chr20 44180313 44191337 Gain and loss Pancreatic cancer SNP array 17952125 WFDC8 chr20 44180313 44195894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WFDC8 chr20 44180313 44195894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WFDC8 chr20 44210702 44704780 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACOT8,CTSA,DNTTIP1,MMP9,NCOA5,NEURL2,PCIF1,PLTP,SLC12A5,SNX21,SPATA25,SPINT4,TNNC2,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC13,WFDC3,WFDC9,ZNF335,ZSWIM1,ZSWIM3 chr20 44219283 44398283 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SPINT4,WFDC10A,WFDC10B,WFDC11,WFDC13,WFDC9 chr20 44224401 44958100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACOT8,CD40,CDH22,CTSA,DNTTIP1,MMP9,NCOA5,NEURL2,PCIF1,PLTP,SLC12A5,SNX21,SPATA25,SPINT4,TNNC2,UBE2C,WFDC10A,WFDC10B,WFDC11,WFDC13,WFDC3,WFDC9,ZNF335,ZSWIM1,ZSWIM3 chr20 44225684 44227413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 44235782 44370544 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SPINT4,WFDC10A,WFDC10B,WFDC11,WFDC13,WFDC9 chr20 44235783 44313741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WFDC10A,WFDC10B,WFDC11,WFDC9 chr20 44235783 44313741 Gain and loss Pancreatic cancer SNP array 17952125 WFDC10A,WFDC10B,WFDC11,WFDC9 chr20 44235783 44313741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WFDC10A,WFDC10B,WFDC11,WFDC9 chr20 44286429 44286461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WFDC11 chr20 44334081 46629979 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACOT8,CD40,CDH22,CTSA,DNTTIP1,ELMO2,EYA2,LOC100131496,MIR3616,MKRN7P,MMP9,NCOA3,NCOA5,NEURL2,OCSTAMP,PCIF1,PLTP,SLC12A5,SLC13A3,SLC2A10,SLC35C2,SNX21,SPATA25,SPINT4,SULF2,TNNC2,TP53RK,UBE2C,WFDC13,WFDC3,ZMYND8,ZNF334,ZNF335,ZNF663,ZSWIM1,ZSWIM3 chr20 44356310 44389202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 44371302 44405434 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WFDC3 chr20 44411574 44426471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNTTIP1,WFDC3 chr20 44411574 44426471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNTTIP1,WFDC3 chr20 44411583 44426471 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DNTTIP1,WFDC3 chr20 44411584 44426471 Gain and loss Pancreatic cancer SNP array 17952125 DNTTIP1,WFDC3 chr20 44418631 44419631 Gain Osteosarcoma References 21215367 WFDC3 chr20 44424925 62702798 Amplification Breast cancer Array CGH 16620391 ABHD16B,ACOT8,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CD40,CDH22,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSA,CTSZ,CYP24A1,DDX27,DIDO1,DNAJC5,DNTTIP1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,ELMO2,EYA2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNB1,KCNG1,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100131496,LOC100144597,LOC100506384,LOC284751,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3194,MIR3196,MIR3616,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKRN7P,MMP9,MOCS3,MTRNR2L3,NCOA3,NCOA5,NEURL2,NFATC2,NKAIN4,NPEPL1,NTSR1,OCSTAMP,OGFR,OSBPL2,PARD6B,PCIF1,PCK1,PFDN4,PHACTR3,PLTP,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRPF6,PSMA7,PTGIS,PTK6,PTPN1,RAB22A,RAE1,RBM38,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SLC12A5,SLC13A3,SLC17A9,SLC2A10,SLC2A4RG,SLC35C2,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SNAI1,SNORD12,SNORD12B,SNORD12C,SNX21,SOX18,SPATA2,SPATA25,SPO11,SRMS,SS18L1,STAU1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,TAF4,TCEA2,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TNNC2,TP53RK,TPD52L2,TSHZ2,TUBB1,UBE2C,UBE2V1,UCKL1,UCKL1-AS1,VAPB,YTHDF1,ZBP1,ZBTB46,ZFP64,ZGPAT,ZMYND8,ZNF217,ZNF334,ZNF335,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 44428096 44468678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNTTIP1,SNX21,TNNC2,UBE2C chr20 44428096 44468678 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DNTTIP1,SNX21,TNNC2,UBE2C chr20 44428096 44468678 Gain and loss Pancreatic cancer SNP array 17952125 DNTTIP1,SNX21,TNNC2,UBE2C chr20 44428096 44468678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNTTIP1,SNX21,TNNC2,UBE2C chr20 44431218 44433535 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DNTTIP1 chr20 44441254 44445596 Amplification Colorectal cancer GISTIC software 19359472 UBE2C chr20 44461025 44461074 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 44473051 44473147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOT8 chr20 44476276 44521322 Gain and loss Pancreatic cancer SNP array 17952125 ACOT8,CTSA,NEURL2,SPATA25,ZSWIM1,ZSWIM3 chr20 44476278 44521322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOT8,CTSA,NEURL2,SPATA25,ZSWIM1,ZSWIM3 chr20 44476278 44521322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOT8,CTSA,NEURL2,SPATA25,ZSWIM1,ZSWIM3 chr20 44505837 44506837 Loss Osteosarcoma References 21215367 ZSWIM3 chr20 44525948 44527170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTSA chr20 44545380 44546380 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 44546507 44547140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44548966 44549966 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 44553157 44554590 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 44553157 44554590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44563113 44575601 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PCIF1 chr20 44563113 44575601 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PCIF1 chr20 44563116 44575601 Gain and loss Pancreatic cancer SNP array 17952125 PCIF1 chr20 44563116 44575605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCIF1 chr20 44563116 44575605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCIF1 chr20 44594508 45278604 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CD40,CDH22,ELMO2,MKRN7P,MMP9,NCOA5,OCSTAMP,SLC12A5,SLC13A3,SLC35C2,ZNF334,ZNF335,ZNF663 chr20 44603319 44608374 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 44603320 44608374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44603320 44608374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 44603320 44608374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44604596 44604645 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 44611498 44611547 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 44619869 44746514 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MMP9,NCOA5,SLC12A5 chr20 44619870 44732185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MMP9,NCOA5,SLC12A5 chr20 44619870 44732185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MMP9,NCOA5,SLC12A5 chr20 44619876 44732185 Gain and loss Pancreatic cancer SNP array 17952125 MMP9,NCOA5,SLC12A5 chr20 44637546 44645200 Amplification Colorectal cancer GISTIC software 19359472 MMP9 chr20 44695573 44725930 Gain Normal 244K array 17666407 NCOA5 chr20 44746410 44751683 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CD40 chr20 44746412 44751683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD40 chr20 44746412 44751683 Gain and loss Pancreatic cancer SNP array 17952125 CD40 chr20 44746412 44751683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD40 chr20 44771533 44798390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44771533 44798390 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 44771533 44798390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44771685 44798392 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 44791628 44791728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 44816958 45187207 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH22,ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44838035 47292422 Gain small cell lung cancer Real-time Quantitative PCR 17426248 CDH22,ELMO2,EYA2,LINC00494,LOC100131496,MIR3616,MKRN7P,NCOA3,OCSTAMP,PREX1,SLC13A3,SLC2A10,SLC35C2,SULF2,TP53RK,ZMYND8,ZNF334,ZNF663 chr20 44847168 44847268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH22 chr20 44848643 44848743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH22 chr20 44852738 44880558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH22 chr20 44899873 44899973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 44901525 44901620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 44921379 44921688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44921379 44921703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 44921380 44921618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 44925560 44926163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 44945024 44945124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 44956670 45250897 Gain and loss Pancreatic cancer SNP array 17952125 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956915 45250899 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956915 45250899 Copy number Normal TaqMan quantitative real-time PCR 20142840 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956915 45250899 Gain or loss Breast cancer - 20668451 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956915 45250899 Gain or loss Cancer - 20668451 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956915 45250899 Gain or loss Lung cancer - 20668451 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956915 45250899 Gain or loss Ovarian cancer - 20668451 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956915 45250899 Gain or loss Pancreas cancer - 20668451 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956915 45250899 Gain or loss Prostate cancer - 20668451 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956916 45250897 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956916 45250897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44956916 45250897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 44958101 45211100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ELMO2,MKRN7P,OCSTAMP,SLC13A3,SLC35C2,ZNF334,ZNF663 chr20 45044330 54307144 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADNP,ARFGEF2,ATP9A,B4GALT5,BCAS1,BCAS4,CEBPB,CSE1L,CYP24A1,DDX27,DOK5,DPM1,EYA2,FAM65C,KCNB1,KCNG1,LINC00494,LINC00651,LOC100131496,LOC284751,MIR3194,MIR3616,MIR4756,MIR645,MKRN7P,MOCS3,NCOA3,NFATC2,OCSTAMP,PARD6B,PFDN4,PREX1,PTGIS,PTPN1,RNF114,SALL4,SLC13A3,SLC2A10,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,SUMO1P1,TMEM189,TMEM189-UBE2V1,TP53RK,TSHZ2,UBE2V1,ZFP64,ZMYND8,ZNF217,ZNF334,ZNF663,ZNFX1,ZNFX1-AS1 chr20 45059642 45060534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 45179589 45179689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 45187207 45826728 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EYA2,MIR3616,SLC13A3,SLC2A10,TP53RK chr20 4519639 4519946 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 4519639 4519946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 45199087 45199187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC13A3 chr20 45205485 45713113 Loss Normal 244K array 17666407 EYA2,SLC13A3,SLC2A10,TP53RK chr20 45210204 45213513 Loss Normal Birdsuite, version 1.5.2 22087296 SLC13A3 chr20 45211101 45970100 Copy number Normal ReadDepth: A Parallel R Package 21305028 EYA2,LOC100131496,MIR3616,SLC13A3,SLC2A10,TP53RK,ZMYND8 chr20 45213513 45222336 Loss Normal Birdsuite, version 1.5.2 22087296 SLC13A3 chr20 45222336 45224368 Loss Normal Birdsuite, version 1.5.2 22087296 SLC13A3 chr20 45222884 45223744 Gain and loss Pancreatic cancer SNP array 17952125 SLC13A3 chr20 45222884 45223774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC13A3 chr20 45271266 45418881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC13A3,SLC2A10,TP53RK chr20 45271266 45418881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC13A3,SLC2A10,TP53RK chr20 45271266 45418881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC13A3,SLC2A10,TP53RK chr20 45271788 45418974 Gain and loss Pancreatic cancer SNP array 17952125 SLC13A3,SLC2A10,TP53RK chr20 45278604 49839244 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADNP,ARFGEF2,B4GALT5,BCAS4,CEBPB,CSE1L,DDX27,DPM1,EYA2,FAM65C,KCNB1,KCNG1,LINC00494,LINC00651,LOC100131496,LOC284751,MIR3616,MIR645,MOCS3,NCOA3,PARD6B,PREX1,PTGIS,PTPN1,RNF114,SLC13A3,SLC2A10,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,TP53RK,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45283684 46020892 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 EYA2,LOC100131496,MIR3616,SLC13A3,SLC2A10,TP53RK,ZMYND8 chr20 45338887 45497265 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 SLC2A10 chr20 45380653 45382874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 45418097 45418193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 45428841 45428941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 45434626 45434665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 45450793 49878372 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1157K arrays 21546498 ADNP,ARFGEF2,B4GALT5,BCAS4,CEBPB,CSE1L,DDX27,DPM1,EYA2,FAM65C,KCNB1,KCNG1,LINC00494,LINC00651,LOC100131496,LOC284751,MIR3616,MIR645,MOCS3,NCOA3,PARD6B,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45493233 45493282 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 45540365 45541161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA2 chr20 45546429 45546532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA2 chr20 45546432 45546525 Gain and loss Pancreatic cancer SNP array 17952125 EYA2 chr20 45546432 45546531 Gain and loss Pancreatic cancer SNP array 17952125 EYA2 chr20 45555129 45555236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA2 chr20 45555131 45555235 Gain and loss Pancreatic cancer SNP array 17952125 EYA2 chr20 45555131 45555236 Gain and loss Pancreatic cancer SNP array 17952125 EYA2 chr20 45557197 45557246 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 EYA2 chr20 45564053 45719023 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EYA2 chr20 45564053 45719023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EYA2 chr20 45564053 45719023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA2 chr20 45564063 45719021 Copy number Breast cancer Univariate Analysis 17375183 EYA2 chr20 45564063 45719021 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 EYA2 chr20 4558318 4566067 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 4558506 4558865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 45633086 45633166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA2 chr20 45645347 45715724 Gain and loss Pancreatic cancer SNP array 17952125 EYA2 chr20 45645347 45715724 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 EYA2 chr20 45657731 45657814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EYA2 chr20 45692417 45693589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA2 chr20 45701817 45909956 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EYA2,MIR3616,ZMYND8 chr20 45701817 45957486 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EYA2,LOC100131496,MIR3616,ZMYND8 chr20 45707186 45707286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EYA2 chr20 45719063 45848215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EYA2,MIR3616,ZMYND8 chr20 45719063 45848215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EYA2,MIR3616,ZMYND8 chr20 45719063 45848215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EYA2,MIR3616,ZMYND8 chr20 45719063 45848767 Gain and loss Pancreatic cancer SNP array 17952125 EYA2,MIR3616,ZMYND8 chr20 45719558 45848767 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 EYA2,MIR3616,ZMYND8 chr20 45725001 45907500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EYA2,MIR3616,ZMYND8 chr20 45750967 45753566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EYA2 chr20 45767509 45872697 Duplication Schizophrenia NimbleGen HD2 platform 21346763 EYA2,MIR3616,ZMYND8 chr20 45773917 45774017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EYA2 chr20 45800000 49200000 Amplification Biliary cancer Array CGH 19435499 ARFGEF2,B4GALT5,CEBPB,CSE1L,DDX27,EYA2,KCNB1,LINC00494,LINC00651,LOC100131496,LOC284751,NCOA3,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45800000 49200000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ARFGEF2,B4GALT5,CEBPB,CSE1L,DDX27,EYA2,KCNB1,LINC00494,LINC00651,LOC100131496,LOC284751,NCOA3,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45800000 49200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARFGEF2,B4GALT5,CEBPB,CSE1L,DDX27,EYA2,KCNB1,LINC00494,LINC00651,LOC100131496,LOC284751,NCOA3,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45800000 49200000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ARFGEF2,B4GALT5,CEBPB,CSE1L,DDX27,EYA2,KCNB1,LINC00494,LINC00651,LOC100131496,LOC284751,NCOA3,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45800000 49200000 Copy number Normal - 20680643 ARFGEF2,B4GALT5,CEBPB,CSE1L,DDX27,EYA2,KCNB1,LINC00494,LINC00651,LOC100131496,LOC284751,NCOA3,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45800000 49200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARFGEF2,B4GALT5,CEBPB,CSE1L,DDX27,EYA2,KCNB1,LINC00494,LINC00651,LOC100131496,LOC284751,NCOA3,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45800000 49200000 Loss Hepatocellular carcinoma Array CGH 16750200 ARFGEF2,B4GALT5,CEBPB,CSE1L,DDX27,EYA2,KCNB1,LINC00494,LINC00651,LOC100131496,LOC284751,NCOA3,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZMYND8,ZNFX1,ZNFX1-AS1 chr20 45800000 54400000 Deletion Okamoto syndrome high-resolution array CGH 17623483 ADNP,ARFGEF2,ATP9A,B4GALT5,BCAS1,BCAS4,CEBPB,CSE1L,CYP24A1,DDX27,DOK5,DPM1,EYA2,FAM65C,KCNB1,KCNG1,LINC00494,LINC00651,LOC100131496,LOC284751,MIR3194,MIR4756,MIR645,MOCS3,NCOA3,NFATC2,PARD6B,PFDN4,PREX1,PTGIS,PTPN1,RNF114,SALL4,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,SUMO1P1,TMEM189,TMEM189-UBE2V1,TSHZ2,UBE2V1,ZFP64,ZMYND8,ZNF217,ZNFX1,ZNFX1-AS1 chr20 45824344 45869303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45826728 46196977 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC100131496,NCOA3,ZMYND8 chr20 45835704 45836704 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 45877338 45903293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45889139 45889196 Gain and loss Pancreatic cancer SNP array 17952125 ZMYND8 chr20 45889348 45910900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45889365 45905922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45891901 45902174 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45893112 45900862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45907501 45909500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZMYND8 chr20 45909501 45949000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131496,ZMYND8 chr20 45916366 45916455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZMYND8 chr20 45921939 45922823 Gain and loss Pancreatic cancer SNP array 17952125 ZMYND8 chr20 45921939 45922823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMYND8 chr20 45941354 45971782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100131496,ZMYND8 chr20 45947149 45978343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100131496,ZMYND8 chr20 45947461 45969404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100131496,ZMYND8 chr20 45949001 45972500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131496,ZMYND8 chr20 45949231 45973361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100131496,ZMYND8 chr20 45950354 45970199 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45952224 45960083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45954080 45968742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45954205 45975401 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMYND8 chr20 45957192 45957626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZMYND8 chr20 45966498 45966555 Gain and loss Pancreatic cancer SNP array 17952125 ZMYND8 chr20 45970101 46982100 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA3,SULF2,ZMYND8 chr20 45972501 46252000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA3,ZMYND8 chr20 45976880 45997244 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 ZMYND8 chr20 45985729 46017826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46013226 46013558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 46020892 47249572 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LINC00494,NCOA3,PREX1,SULF2 chr20 46026329 46027329 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 46054338 46073495 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 46128189 46128559 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr20 46130600 46285621 Amplification Breast cancer BAC-arrays 17001317 NCOA3 chr20 4614797 4630233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4614797 4630233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4615069 4630233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 46196977 46971134 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NCOA3,SULF2 chr20 46252001 46278000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA3 chr20 46257255 46282261 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCOA3 chr20 46278001 46550000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA3,SULF2 chr20 46281959 46282059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCOA3 chr20 46300797 46300846 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 SULF2 chr20 46321729 47609045 LOH Normal High-resolution SNP genotyping 21211785 ARFGEF2,LINC00494,PREX1,SULF2 chr20 46356251 46356349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SULF2 chr20 46360000 50200000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ADNP,ARFGEF2,B4GALT5,BCAS4,CEBPB,CSE1L,DDX27,DPM1,FAM65C,KCNB1,KCNG1,LINC00494,LINC00651,LOC284751,MIR3194,MIR645,MOCS3,NFATC2,PARD6B,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZNFX1,ZNFX1-AS1 chr20 46381023 46414615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SULF2 chr20 46400000 49800000 Amplification Colorectal cancer PCR 16912164 ADNP,ARFGEF2,B4GALT5,BCAS4,CEBPB,CSE1L,DDX27,DPM1,FAM65C,KCNB1,KCNG1,LINC00494,LINC00651,LOC284751,MIR645,MOCS3,PARD6B,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZNFX1,ZNFX1-AS1 chr20 46400000 49800000 Gain Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADNP,ARFGEF2,B4GALT5,BCAS4,CEBPB,CSE1L,DDX27,DPM1,FAM65C,KCNB1,KCNG1,LINC00494,LINC00651,LOC284751,MIR645,MOCS3,PARD6B,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZNFX1,ZNFX1-AS1 chr20 46400000 49800000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ADNP,ARFGEF2,B4GALT5,BCAS4,CEBPB,CSE1L,DDX27,DPM1,FAM65C,KCNB1,KCNG1,LINC00494,LINC00651,LOC284751,MIR645,MOCS3,PARD6B,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,SULF2,TMEM189,TMEM189-UBE2V1,UBE2V1,ZNFX1,ZNFX1-AS1 chr20 46400000 63025520 Amplification Gastric cancer 5K BAC array CGH 17908304 ABHD16B,ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ARFRP1,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSZ,CYP24A1,DDX27,DIDO1,DNAJC5,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNB1,KCNG1,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284751,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3194,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MOCS3,MTRNR2L3,MYT1,NFATC2,NKAIN4,NPBWR2,NPEPL1,NTSR1,OGFR,OPRL1,OSBPL2,PARD6B,PCK1,PCMTD2,PFDN4,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRPF6,PSMA7,PTGIS,PTK6,PTPN1,RAB22A,RAE1,RBM38,RGS19,RNF114,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SLC17A9,SLC2A4RG,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SNAI1,SNORD12,SNORD12B,SNORD12C,SOX18,SPATA2,SPO11,SRMS,SS18L1,STAU1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SYCP2,TAF4,TCEA2,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TNFRSF6B,TPD52L2,TSHZ2,TUBB1,UBE2V1,UCKL1,UCKL1-AS1,VAPB,YTHDF1,ZBP1,ZBTB46,ZFP64,ZGPAT,ZNF217,ZNF512B,ZNF831,ZNFX1,ZNFX1-AS1 chr20 46414721 46414794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SULF2 chr20 46485481 46494931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 4650556 4657105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4650556 4657105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 4650556 4657105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 46505917 46537589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46516488 46516553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46533765 46536895 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 46535412 46536783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 46546060 46546149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46550001 46552000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 46552001 46561500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 46555900 46555963 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 46555967 46567909 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46557330 46557430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46559742 46574114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46560928 46567031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46561012 46574360 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46561501 46564000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 46561525 46568448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46562476 46566720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46563775 46567035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46564001 46667500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 46564043 46566764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46564083 46569855 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 4659929 4669314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRNP chr20 4659929 4669314 Gain and loss Pancreatic cancer SNP array 17952125 PRNP chr20 4659929 4669314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRNP chr20 46629979 49478055 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARFGEF2,B4GALT5,BCAS4,CEBPB,CSE1L,DDX27,FAM65C,KCNB1,LINC00494,LINC00651,LOC284751,MIR645,PARD6B,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,TMEM189,TMEM189-UBE2V1,UBE2V1,ZNFX1,ZNFX1-AS1 chr20 46638737 46638758 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 NOT_FOUND chr20 4664315 4665319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 46653763 46653862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46660180 46660243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46660790 46660852 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 46667501 46708500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 46674199 46877827 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 46674200 46877827 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 46674200 46877827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 46674200 46877827 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 46674200 46877827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 46708501 46859500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 4671682 47086637 Copy number Autism exome sequencing 22495311 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADIG,AHCY,ANKRD5,APMAP,ARHGAP40,ASIP,ASXL1,BANF2,BCL2L1,BFSP1,BLCAP,BMP2,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf196,C20orf203,C20orf24,C20orf26,C20orf72,C20orf78,C20orf79,C20orf94,CBFA2T2,CD40,CD93,CDH22,CDK5RAP1,CDS2,CEP250,CHD6,CHGB,CHMP4B,COMMD7,COX4I2,CPNE1,CRLS1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,CTNNBL1,CTSA,DBNDD2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DNTTIP1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EDEM2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM182A,FAM182B,FAM83C,FAM83D,FER1L4,FERMT1,FITM2,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GDAP1L1,GDF5,GGT7,GGTLC1,GHRH,GINS1,GPCPD1,GSS,GTSF1L,GZF1,HAO1,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,ID1,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,JAG1,JPH2,KCNK15,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMP5,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00494,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LOC100130264,LOC100131496,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC100505783,LOC149950,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC643406,LOC79015,LPIN3,LRRN4,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MCM8,MIR3192,MIR3193,MIR3616,MIR3646,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NXT1,OCSTAMP,OTOR,OVOL2,PABPC1L,PAK7,PAX1,PCIF1,PCNA,PCNA-AS1,PCSK2,PDRG1,PET117,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,POFUT1,POLR3F,PPP1R16B,PRND,PRNP,PRNT,PROCR,PROKR2,PSIMCT-1,PTPRT,PXMP4,PYGB,R3HDML,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBL1,RBM12,RBM39,RBPJL,REM1,RIMS4,RIN2,ROMO1,RPN2,RPRD1B,RRBP1,SAMHD1,SCAND1,SDC4,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SLA2,SLC12A5,SLC13A3,SLC23A2,SLC24A3,SLC2A10,SLC32A1,SLC35C2,SLPI,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD17,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SPAG4,SPATA25,SPINT3,SPINT4,SPTLC3,SRC,SRSF6,SSTR4,STK4,STK4-AS1,SULF2,SUN5,SYNDIG1,SYS1,SYS1-DBNDD2,TASP1,TGIF2,TGIF2-C20ORF24,TGM2,THBD,TM9SF4,TMEM230,TMX4,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRMT6,TRPC4AP,TSPY26P,TTI1,TTLL9,TTPAL,UBE2C,UQCC,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YWHAB,ZHX3,ZMYND8,ZNF133,ZNF334,ZNF335,ZNF337,ZNF341,ZNF663,ZSWIM1,ZSWIM3 chr20 46744264 46833218 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 46752714 46754545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 46752734 46753388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 46752734 46753388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 46752998 46753096 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 46794683 46794762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46824469 46824553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46842218 46875489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46877671 46877771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46904799 46943233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 46948951 46949046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46954735 46954834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 46969171 62114147 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSZ,CYP24A1,DDX27,DIDO1,DOK5,DPH3P1,DPM1,EDN3,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FLJ16779,GATA5,GCNT7,GID8,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNB1,KCNG1,KCNQ2,LAMA5,LINC00029,LINC00494,LINC00651,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284751,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MOCS3,MTRNR2L3,NFATC2,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PARD6B,PCK1,PFDN4,PHACTR3,PMEPA1,PPP1R3D,PPP4R1L,PREX1,PSMA7,PTGIS,PTPN1,RAB22A,RAE1,RBM38,RNF114,RPS21,SALL4,SLC17A9,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,SPO11,SS18L1,STAU1,STX16,STX16-NPEPL1,SUMO1P1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TSHZ2,TUBB1,UBE2V1,VAPB,YTHDF1,ZBP1,ZFP64,ZNF217,ZNF831,ZNFX1,ZNFX1-AS1 chr20 46971134 47913586 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARFGEF2,CSE1L,DDX27,LINC00494,PREX1,SNORD12,SNORD12B,SNORD12C,STAU1,ZNFX1,ZNFX1-AS1 chr20 46971682 47086629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00494 chr20 46971682 47086629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00494 chr20 46971834 47083645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00494 chr20 46971834 47083645 Gain and loss Pancreatic cancer SNP array 17952125 LINC00494 chr20 46982101 47336300 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00494,PREX1 chr20 47000736 47001736 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 47011679 47011779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 47022475 47022574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 47050011 47083286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 4708669 4743769 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 PRND,PRNT chr20 4708670 4752291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRND,PRNT chr20 4708670 4752291 Gain and loss Pancreatic cancer SNP array 17952125 PRND,PRNT chr20 4708670 4752291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRND,PRNT chr20 47088301 47088546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47096245 47146891 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 47096245 47146891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47096245 47146891 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 47096245 47146891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47163285 47238311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 47163285 47238311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47163285 47238311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47163470 47238311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 47169341 47169441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 47184424 47184957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47184424 47185044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 47200000 49650000 Gain Breast cancer aCGH 21509527 ADNP,ARFGEF2,B4GALT5,BCAS4,CEBPB,CSE1L,DDX27,DPM1,FAM65C,KCNB1,KCNG1,LINC00651,LOC284751,MIR645,MOCS3,PARD6B,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,TMEM189,TMEM189-UBE2V1,UBE2V1,ZNFX1,ZNFX1-AS1 chr20 472001 769500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSNK2A1,SCRT2,SLC52A3,SRXN1,TCF15 chr20 47249572 49297372 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARFGEF2,B4GALT5,CEBPB,CSE1L,DDX27,FAM65C,KCNB1,LINC00651,LOC284751,MIR645,PREX1,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,TMEM189,TMEM189-UBE2V1,UBE2V1,ZNFX1,ZNFX1-AS1 chr20 47269291 47294019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PREX1 chr20 47269291 47294019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47269291 47294019 Gain and loss Pancreatic cancer SNP array 17952125 PREX1 chr20 47269291 47294019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47274870 62230270 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFGEF2,ATP5E,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CEBPB,CHRNA4,COL20A1,COL9A3,CSE1L,CSTF1,CTCFL,CTSZ,CYP24A1,DDX27,DIDO1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNB1,KCNG1,KCNQ2,LAMA5,LINC00029,LINC00651,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284751,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MOCS3,MTRNR2L3,NFATC2,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PARD6B,PCK1,PFDN4,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PREX1,PRIC285,PSMA7,PTGIS,PTK6,PTPN1,RAB22A,RAE1,RBM38,RNF114,RPS21,SALL4,SLC17A9,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,SPO11,SRMS,SS18L1,STAU1,STX16,STX16-NPEPL1,SUMO1P1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TMEM189,TMEM189-UBE2V1,TSHZ2,TUBB1,UBE2V1,VAPB,YTHDF1,ZBP1,ZFP64,ZNF217,ZNF831,ZNFX1,ZNFX1-AS1 chr20 47288858 47328163 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PREX1 chr20 47288858 47328163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47288858 47328163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47295848 47328009 Gain and loss Pancreatic cancer SNP array 17952125 PREX1 chr20 47328122 47339200 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PREX1 chr20 47328122 47339200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47328582 47339200 Gain and loss Pancreatic cancer SNP array 17952125 PREX1 chr20 47328884 47328972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47328889 47328967 Gain and loss Pancreatic cancer SNP array 17952125 PREX1 chr20 47330263 47330353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47330627 47330716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47336301 47715800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARFGEF2,CSE1L,PREX1 chr20 47358355 47358435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PREX1 chr20 47368389 47390381 Gain and loss Pancreatic cancer SNP array 17952125 PREX1 chr20 47371770 47371870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PREX1 chr20 47400000 48700000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ARFGEF2,B4GALT5,CSE1L,DDX27,KCNB1,LINC00651,PREX1,PTGIS,RNF114,SLC9A8,SNAI1,SNORD12,SNORD12B,SNORD12C,SPATA2,STAU1,TMEM189-UBE2V1,UBE2V1,ZNFX1,ZNFX1-AS1 chr20 47421912 47532588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47421912 47532588 Gain and loss Pancreatic cancer SNP array 17952125 PREX1 chr20 47421912 47532588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PREX1 chr20 47441688 47893353 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARFGEF2,CSE1L,DDX27,PREX1,STAU1,ZNFX1 chr20 47441688 48002685 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARFGEF2,CSE1L,DDX27,KCNB1,PREX1,SNORD12,SNORD12B,SNORD12C,STAU1,ZNFX1,ZNFX1-AS1 chr20 47459749 47459828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 47475732 47475821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 47482436 47482505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 47523051 47523100 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 47553818 47618114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARFGEF2 chr20 47553818 47618114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARFGEF2 chr20 47553821 47618114 Gain and loss Pancreatic cancer SNP array 17952125 ARFGEF2 chr20 4759846 4781623 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 RASSF2 chr20 47635611 47637674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARFGEF2 chr20 47639034 47639134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARFGEF2 chr20 47646 4726754 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,C20orf141,C20orf194,C20orf202,C20orf27,C20orf96,CDC25B,CENPB,CPXM1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,HSPA12B,IDH3B,ITPA,LOC100289473,LOC728228,MAVS,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PDYN,PRND,PRNP,PRNT,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM239,TMEM74B,TRIB3,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 47682889 47763745 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CSE1L,STAU1 chr20 47682889 47763745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSE1L,STAU1 chr20 47682889 47763745 Gain and loss Pancreatic cancer SNP array 17952125 CSE1L,STAU1 chr20 47682889 47763745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSE1L,STAU1 chr20 47683153 47683202 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 CSE1L chr20 47683254 47683640 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CSE1L chr20 47715801 47918200 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX27,SNORD12,SNORD12B,SNORD12C,STAU1,ZNFX1,ZNFX1-AS1 chr20 47771893 47772189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAU1 chr20 47771893 47772191 Gain and loss Pancreatic cancer SNP array 17952125 STAU1 chr20 47771893 47772191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAU1 chr20 47779535 47779786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAU1 chr20 47804742 47804808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAU1 chr20 4781002 4930145 Gain and loss Pancreatic cancer SNP array 17952125 RASSF2,SLC23A2 chr20 4781002 4938939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASSF2,SLC23A2 chr20 4781002 4938939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASSF2,SLC23A2 chr20 47844755 47844854 Gain and loss Pancreatic cancer SNP array 17952125 DDX27 chr20 47844755 47844855 Gain and loss Pancreatic cancer SNP array 17952125 DDX27 chr20 47862657 47942179 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNORD12,SNORD12B,SNORD12C,ZNFX1,ZNFX1-AS1 chr20 47862657 47942179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNORD12,SNORD12B,SNORD12C,ZNFX1,ZNFX1-AS1 chr20 47862657 47942179 Gain and loss Pancreatic cancer SNP array 17952125 SNORD12,SNORD12B,SNORD12C,ZNFX1,ZNFX1-AS1 chr20 47862657 47942179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNORD12,SNORD12B,SNORD12C,ZNFX1,ZNFX1-AS1 chr20 47872330 47872415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNFX1 chr20 47879069 47881029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNFX1 chr20 47913586 48519448 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 B4GALT5,KCNB1,PTGIS,SLC9A8 chr20 47918201 48247100 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNB1,PTGIS chr20 47932001 48511000 Copy number Normal ReadDepth: A Parallel R Package 21305028 B4GALT5,KCNB1,PTGIS,SLC9A8 chr20 479488 513024 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSNK2A1 chr20 47953338 47965475 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 47953338 47965475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47953338 47965475 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 47953338 47965475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47961277 47961331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 47970541 47970638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 47970543 47970638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 47970544 47970638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 47977143 47977222 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 47986321 48003827 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNB1 chr20 47986321 48003827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNB1 chr20 47986321 48003827 Gain and loss Pancreatic cancer SNP array 17952125 KCNB1 chr20 47986321 48003827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNB1 chr20 47990243 47990344 Gain and loss Pancreatic cancer SNP array 17952125 KCNB1 chr20 47990243 47990344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNB1 chr20 48002976 50156793 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1163K arrays 21546498 ADNP,B4GALT5,BCAS4,CEBPB,DPM1,FAM65C,KCNB1,KCNG1,LINC00651,LOC284751,MIR3194,MIR645,MOCS3,NFATC2,PARD6B,PTGIS,PTPN1,RNF114,SLC9A8,SNAI1,SPATA2,TMEM189,TMEM189-UBE2V1,UBE2V1 chr20 48006689 48007976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNB1 chr20 48019467 48051030 Gain Normal Birdsuite, version 1.5.2 22087296 KCNB1 chr20 48022050 48022156 Gain and loss Pancreatic cancer SNP array 17952125 KCNB1 chr20 48022050 48022156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNB1 chr20 48032934 48038825 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNB1 chr20 48032934 48038825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNB1 chr20 48032934 48038825 Gain and loss Pancreatic cancer SNP array 17952125 KCNB1 chr20 48032934 48038825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNB1 chr20 48033501 54958791 Gain Bladder cancer array-CGH 21909424 ADNP,ATP9A,AURKA,B4GALT5,BCAS1,BCAS4,CBLN4,CEBPB,CYP24A1,DOK5,DPM1,FAM210B,FAM65C,KCNB1,KCNG1,LINC00651,LOC284751,MC3R,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTGIS,PTPN1,RNF114,SALL4,SLC9A8,SNAI1,SPATA2,SUMO1P1,TMEM189,TMEM189-UBE2V1,TSHZ2,UBE2V1,ZFP64,ZNF217 chr20 48065278 48065378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNB1 chr20 48067870 48098739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNB1 chr20 48114082 48114470 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 48131067 48165901 Gain or loss Breast cancer - 20668451 PTGIS chr20 48131067 48165901 Gain or loss Cancer - 20668451 PTGIS chr20 48131067 48165901 Gain or loss Lung cancer - 20668451 PTGIS chr20 48131067 48165901 Gain or loss Ovarian cancer - 20668451 PTGIS chr20 48131067 48165901 Gain or loss Pancreas cancer - 20668451 PTGIS chr20 48131067 48165901 Gain or loss Prostate cancer - 20668451 PTGIS chr20 48131068 48203678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PTGIS chr20 48131068 48203678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTGIS chr20 48131068 48203678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTGIS chr20 48131070 48203667 Gain and loss Pancreatic cancer SNP array 17952125 PTGIS chr20 48167750 48167859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTGIS chr20 48206199 48206515 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 48240782 48242619 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 48240783 48242619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48240783 48242619 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48240783 48242619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48240798 48242611 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 48247101 48525400 Copy number Normal ReadDepth: A Parallel R Package 21305028 B4GALT5,SLC9A8,SPATA2 chr20 48326815 48326915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 B4GALT5 chr20 48342664 48364863 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 48342664 48364863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48342664 48364863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48369907 48369997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 48370020 48370120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 48390136 48390197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 48455846 48455939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A8 chr20 4847842 5870830 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C20orf196,CDS2,GPCPD1,LINC00654,LINC00658,LOC643406,PCNA,PCNA-AS1,PROKR2,SLC23A2,TMEM230 chr20 48479134 48479427 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A8 chr20 48479134 48479427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A8 chr20 48479136 48479427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A8 chr20 48519448 48889697 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CEBPB,LINC00651,RNF114,SNAI1,SPATA2,TMEM189,TMEM189-UBE2V1,UBE2V1 chr20 48525401 48702500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00651,RNF114,SNAI1,SPATA2,TMEM189-UBE2V1,UBE2V1 chr20 48529711 48529935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA2 chr20 48531085 48531147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA2 chr20 48560297 48634493 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RNF114,SNAI1 chr20 48560297 48634493 Gain or loss Breast cancer - 20668451 RNF114,SNAI1 chr20 48560297 48634493 Gain or loss Cancer - 20668451 RNF114,SNAI1 chr20 48560297 48634493 Gain or loss Lung cancer - 20668451 RNF114,SNAI1 chr20 48560297 48634493 Gain or loss Ovarian cancer - 20668451 RNF114,SNAI1 chr20 48560297 48634493 Gain or loss Pancreas cancer - 20668451 RNF114,SNAI1 chr20 48560297 48634493 Gain or loss Prostate cancer - 20668451 RNF114,SNAI1 chr20 48560298 48634489 Gain and loss Pancreatic cancer SNP array 17952125 RNF114,SNAI1 chr20 48560298 48634495 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF114,SNAI1 chr20 48560298 48634495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF114,SNAI1 chr20 48560298 48634495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF114,SNAI1 chr20 48607626 48607941 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48607626 48607941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48607628 48607942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48612953 48613050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48612953 48613052 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48612953 48613054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48635501 48692000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00651 chr20 48635730 48635823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48636052 48741472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00651,TMEM189,TMEM189-UBE2V1,UBE2V1 chr20 48636052 48741472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00651,TMEM189,TMEM189-UBE2V1,UBE2V1 chr20 48636052 48741472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00651,TMEM189,TMEM189-UBE2V1,UBE2V1 chr20 48642198 48642611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48644623 48686833 Gain and loss Pancreatic cancer SNP array 17952125 LINC00651 chr20 48658235 48659235 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 48664580 48664729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48670707 48671021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48692001 48891500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEBPB,TMEM189,TMEM189-UBE2V1,UBE2V1 chr20 48701241 48701336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM189-UBE2V1,UBE2V1 chr20 48702501 48879600 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEBPB,TMEM189,TMEM189-UBE2V1,UBE2V1 chr20 48722374 48856307 Insert Cancer ultra-high resolution array CGH 21272361 CEBPB,TMEM189,TMEM189-UBE2V1,UBE2V1 chr20 48737169 49760837 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ADNP,BCAS4,CEBPB,DPM1,FAM65C,KCNG1,LOC284751,MIR645,MOCS3,PARD6B,PTPN1,TMEM189,TMEM189-UBE2V1 chr20 4876937 4877037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC23A2 chr20 48781488 48806739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 48781488 48806739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48781488 48806739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48781731 48800432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48844874 48927120 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC284751 chr20 48844874 48927120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284751 chr20 48844874 48927120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284751 chr20 48844938 48927120 Gain and loss Pancreatic cancer SNP array 17952125 LOC284751 chr20 48879601 49233800 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM65C,LOC284751,MIR645,PTPN1 chr20 48887433 48887513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 48889697 49630195 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADNP,BCAS4,DPM1,FAM65C,KCNG1,LOC284751,MIR645,MOCS3,PARD6B,PTPN1 chr20 48890559 48890693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48890559 48890693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48891501 48930000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC284751 chr20 48930001 49853000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADNP,BCAS4,DPM1,FAM65C,KCNG1,LOC284751,MIR645,MOCS3,PARD6B,PTPN1 chr20 48930979 49068912 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 LOC284751 chr20 48938992 48980934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48938992 48980934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48938992 48981157 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 48940289 48980934 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr20 48940290 48980934 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48963675 48964122 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 48963675 48964355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48984811 49008499 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 48984811 49008499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48984811 49008499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 48984812 49008467 Copy number Autism exome sequencing 22495311 NOT_FOUND chr20 48984819 49008494 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49008770 49011227 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 49008770 49011227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49008770 49011227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49008770 49011227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 4902726 4902826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC23A2 chr20 49039203 49047797 Loss Normal 244K array 17666407 NOT_FOUND chr20 49053601 49073051 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 49053601 49073051 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49053601 49073082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49053601 49073082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49058203 49058998 Gain Normal 244K array 17666407 NOT_FOUND chr20 49058998 49059088 Gain Normal 244K array 17666407 NOT_FOUND chr20 49059088 49062482 Gain Normal 244K array 17666407 NOT_FOUND chr20 49070770 49102830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 49092285 49093491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 49100001 52300000 Amplification Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 ADNP,ATP9A,BCAS4,DPM1,FAM65C,KCNG1,MIR3194,MIR645,MOCS3,NFATC2,PARD6B,PTPN1,SALL4,TSHZ2,ZFP64,ZNF217 chr20 49158348 49158631 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPN1 chr20 49180732 49181575 Gain and loss Pancreatic cancer SNP array 17952125 PTPN1 chr20 49180732 49181611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN1 chr20 49200000 54400000 Amplification Biliary cancer Array CGH 19435499 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 54400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 54400000 Copy number Normal - 20680643 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 54400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 54400000 Gain Barrett's adenocarcinoma FISH 18663352 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 54400000 Gain Cervical cancer Array CGH and SNP array 16585170 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 54400000 Gain Malignant fibrous histiocytomas aCGH 21085701 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 54400000 Gain Ovarian cancer Affymetrix 20844748 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 54400000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,FAM65C,KCNG1,MIR3194,MIR4756,MIR645,MOCS3,NFATC2,PARD6B,PFDN4,PTPN1,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49200000 62435964 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ADNP,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,ATP9A,AURKA,BCAS1,BCAS4,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,CYP24A1,DIDO1,DOK5,DPH3P1,DPM1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNG1,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3194,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR645,MOCS3,MTRNR2L3,NFATC2,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PARD6B,PCK1,PFDN4,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,PTPN1,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SUMO1P1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TSHZ2,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZFP64,ZGPAT,ZNF217,ZNF831 chr20 49217696 49219960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM65C chr20 49233801 49613300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADNP,BCAS4,DPM1,FAM65C,MOCS3,PARD6B chr20 49297372 50171100 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADNP,BCAS4,DPM1,KCNG1,MIR3194,MOCS3,NFATC2,PARD6B chr20 49308458 49308490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 49311758 49311857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 49332842 49365695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PARD6B chr20 4942166 4942370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC23A2 chr20 49438571 49592665 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADNP,BCAS4,DPM1,MOCS3 chr20 49438571 49592665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADNP,BCAS4,DPM1,MOCS3 chr20 49438571 49592665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADNP,BCAS4,DPM1,MOCS3 chr20 49441171 49612777 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ADNP,BCAS4,DPM1,MOCS3 chr20 49441312 49592665 Gain and loss Pancreatic cancer SNP array 17952125 ADNP,BCAS4,DPM1,MOCS3 chr20 49478055 54331409 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADNP,ATP9A,BCAS1,BCAS4,CYP24A1,DOK5,DPM1,KCNG1,MIR3194,MIR4756,MOCS3,NFATC2,PFDN4,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 4960987 4965787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC23A2 chr20 49613301 49891600 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNG1 chr20 49630195 50067762 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 KCNG1,NFATC2 chr20 49639147 49639197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNG1 chr20 49640074 49640174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 49640784 49641056 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49646460 49818315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 49646460 49818315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49646460 49818315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49646720 49818315 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 49646724 49818315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49653767 49654031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49666455 49666523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49737393 49737453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 49781836 49781901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 49784435 49785011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 49784435 49785011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49800000 55000000 Amplification Breast cancer 32K, 33K and 38K array-based CGH 20459607 ATP9A,AURKA,BCAS1,CASS4,CBLN4,CSTF1,CYP24A1,DOK5,FAM210B,MC3R,MIR3194,MIR4756,NFATC2,PFDN4,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49800000 55000000 Amplification Colorectal cancer GISTIC software 19359472 ATP9A,AURKA,BCAS1,CASS4,CBLN4,CSTF1,CYP24A1,DOK5,FAM210B,MC3R,MIR3194,MIR4756,NFATC2,PFDN4,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49800000 55000000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 ATP9A,AURKA,BCAS1,CASS4,CBLN4,CSTF1,CYP24A1,DOK5,FAM210B,MC3R,MIR3194,MIR4756,NFATC2,PFDN4,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49800000 55000000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 ATP9A,AURKA,BCAS1,CASS4,CBLN4,CSTF1,CYP24A1,DOK5,FAM210B,MC3R,MIR3194,MIR4756,NFATC2,PFDN4,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49800000 58400000 Gain Anaplastic large cell lymphoma Array CGH 18179710 APCDD1L,APCDD1L-AS1,ATP5E,ATP9A,AURKA,BCAS1,BMP7,C20orf43,C20orf85,CASS4,CBLN4,CSTF1,CTCFL,CTSZ,CYP24A1,DOK5,EDN3,FAM209A,FAM209B,FAM210B,GCNT7,GNAS,GNAS-AS1,LOC100506384,MC3R,MIR296,MIR298,MIR3194,MIR4325,MIR4532,MIR4756,MIR5095,MTRNR2L3,NFATC2,NPEPL1,PCK1,PFDN4,PHACTR3,PMEPA1,PPP4R1L,RAB22A,RAE1,RBM38,SALL4,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,SUMO1P1,TFAP2C,TH1L,TSHZ2,TUBB1,VAPB,ZBP1,ZFP64,ZNF217,ZNF831 chr20 49800000 63025520 Gain Gastric cancer 5K BAC array CGH 17908304 ABHD16B,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,ATP9A,AURKA,BCAS1,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,CYP24A1,DIDO1,DNAJC5,DOK5,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3194,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MTRNR2L3,MYT1,NFATC2,NKAIN4,NPBWR2,NPEPL1,NTSR1,OGFR,OPRL1,OSBPL2,PCK1,PCMTD2,PFDN4,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PRPF6,PSMA7,PTK6,RAB22A,RAE1,RBM38,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SOX18,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SUMO1P1,SYCP2,TAF4,TCEA2,TCFL5,TFAP2C,TH1L,TNFRSF6B,TPD52L2,TSHZ2,TUBB1,UCKL1,UCKL1-AS1,VAPB,YTHDF1,ZBP1,ZBTB46,ZFP64,ZGPAT,ZNF217,ZNF512B,ZNF831 chr20 49817851 49818778 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr20 49833988 49852421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 49833988 49852421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49833988 49852421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49833988 49852421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49833990 49852455 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 49856082 50168587 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 MIR3194,NFATC2 chr20 49867306 49867389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 49877988 53256009 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ATP9A,BCAS1,CYP24A1,DOK5,MIR3194,MIR4756,NFATC2,PFDN4,SALL4,SUMO1P1,TSHZ2,ZFP64,ZNF217 chr20 49891601 49967500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 49919590 49919702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 49923701 49927300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 49925520 49925876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 49939705 49939780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 49952238 49952341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49952238 49952341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49954915 49954976 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 49954915 49954976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 49967501 50068700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFATC2 chr20 49997404 49997491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5000000 17800000 Copy number Glaucoma Affymetrix 500K two-chip SNP array 21310917 ANKRD5,BANF2,BFSP1,BMP2,BTBD3,C20orf196,C20orf94,CDS2,CHGB,CRLS1,DSTN,ESF1,FERMT1,FLRT3,GPCPD1,HAO1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00654,LINC00658,LOC339593,LOC643406,LRRN4,MACROD2,MACROD2-AS1,MCM8,MKKS,NDUFAF5,OTOR,PAK7,PCNA,PCNA-AS1,PCSK2,PLCB1,PLCB4,PROKR2,RRBP1,SEL1L2,SNAP25,SNAP25-AS1,SNRPB2,SPTLC3,TASP1,TMEM230,TMX4,TRMT6 chr20 5000000 17800000 Copy number Normal - 21701786 ANKRD5,BANF2,BFSP1,BMP2,BTBD3,C20orf196,C20orf94,CDS2,CHGB,CRLS1,DSTN,ESF1,FERMT1,FLRT3,GPCPD1,HAO1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00654,LINC00658,LOC339593,LOC643406,LRRN4,MACROD2,MACROD2-AS1,MCM8,MKKS,NDUFAF5,OTOR,PAK7,PCNA,PCNA-AS1,PCSK2,PLCB1,PLCB4,PROKR2,RRBP1,SEL1L2,SNAP25,SNAP25-AS1,SNRPB2,SPTLC3,TASP1,TMEM230,TMX4,TRMT6 chr20 5000000 17800000 Microdeletion Alagille syndrome aCGH 22470819 ANKRD5,BANF2,BFSP1,BMP2,BTBD3,C20orf196,C20orf94,CDS2,CHGB,CRLS1,DSTN,ESF1,FERMT1,FLRT3,GPCPD1,HAO1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00654,LINC00658,LOC339593,LOC643406,LRRN4,MACROD2,MACROD2-AS1,MCM8,MKKS,NDUFAF5,OTOR,PAK7,PCNA,PCNA-AS1,PCSK2,PLCB1,PLCB4,PROKR2,RRBP1,SEL1L2,SNAP25,SNAP25-AS1,SNRPB2,SPTLC3,TASP1,TMEM230,TMX4,TRMT6 chr20 5000000 9000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BMP2,C20orf196,CDS2,CHGB,CRLS1,FERMT1,GPCPD1,HAO1,LINC00654,LINC00658,LOC643406,LRRN4,MCM8,PCNA,PCNA-AS1,PLCB1,PROKR2,TMEM230,TMX4,TRMT6 chr20 5000000 9000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BMP2,C20orf196,CDS2,CHGB,CRLS1,FERMT1,GPCPD1,HAO1,LINC00654,LINC00658,LOC643406,LRRN4,MCM8,PCNA,PCNA-AS1,PLCB1,PROKR2,TMEM230,TMX4,TRMT6 chr20 5000000 9000000 Duplication Brachydactyly type A2 array CGH 19327734 BMP2,C20orf196,CDS2,CHGB,CRLS1,FERMT1,GPCPD1,HAO1,LINC00654,LINC00658,LOC643406,LRRN4,MCM8,PCNA,PCNA-AS1,PLCB1,PROKR2,TMEM230,TMX4,TRMT6 chr20 5000000 9000000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 BMP2,C20orf196,CDS2,CHGB,CRLS1,FERMT1,GPCPD1,HAO1,LINC00654,LINC00658,LOC643406,LRRN4,MCM8,PCNA,PCNA-AS1,PLCB1,PROKR2,TMEM230,TMX4,TRMT6 chr20 50067762 51481440 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP9A,MIR3194,NFATC2,SALL4,ZFP64 chr20 50068701 50119300 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3194,NFATC2 chr20 50085176 50087850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFATC2 chr20 50100933 50101023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFATC2 chr20 50101609 50241931 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP9A,NFATC2 chr20 50101609 50241931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP9A,NFATC2 chr20 50101609 50241931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP9A,NFATC2 chr20 50119301 50321700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP9A,NFATC2 chr20 50133956 50241931 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP9A,NFATC2 chr20 50133958 50241931 Gain and loss Pancreatic cancer SNP array 17952125 ATP9A,NFATC2 chr20 50153501 50156500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFATC2 chr20 50160290 50160995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFATC2 chr20 50171100 50444140 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP9A,NFATC2,SALL4 chr20 50184415 50184515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 50192829 50194166 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 50202312 50202645 Gain Normal 244K array 17666407 NOT_FOUND chr20 50214256 50214356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP9A chr20 50217372 50217439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP9A chr20 50265452 51466201 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP9A,SALL4,ZFP64 chr20 5027002 5027122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5027033 5027121 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 50276290 50276390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP9A chr20 5028486 5041733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5028486 5041733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5028501 5041722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 50319452 50319546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP9A chr20 50321701 51409600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP9A,SALL4,ZFP64 chr20 50341319 50385777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP9A chr20 50376252 50376341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP9A chr20 5042643 5042729 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5042643 5042729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5043599 5048647 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 5043599 5055268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5043599 5055268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5043599 5055268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 50444140 51154044 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ZFP64 chr20 50486819 50486908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5050063 5050185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 50507636 50507721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5055482 5119985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDS2,PCNA,PCNA-AS1,TMEM230 chr20 5055482 5119985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDS2,PCNA,PCNA-AS1,TMEM230 chr20 5055482 5119989 Gain and loss Pancreatic cancer SNP array 17952125 CDS2,PCNA,PCNA-AS1,TMEM230 chr20 50561198 50561514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 50591255 51466201 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ZFP64 chr20 50651745 50651822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 50651745 50651822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 50659503 62435964 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BCAS1,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,CYP24A1,DIDO1,DOK5,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PFDN4,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SUMO1P1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TSHZ2,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZFP64,ZGPAT,ZNF217,ZNF831 chr20 50728371 50785456 Copy number Lung cancer paired-end sequencing 18438408 ZFP64 chr20 50791136 50819440 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZFP64 chr20 50799561 60198111 Copy number Lung cancer paired-end sequencing 18438408 APCDD1L,APCDD1L-AS1,ATP5E,AURKA,BCAS1,BMP7,C20orf197,C20orf43,C20orf85,CASS4,CBLN4,CDH26,CDH4,CSTF1,CTCFL,CTSZ,CYP24A1,DOK5,EDN3,FAM209A,FAM209B,FAM210B,FAM217B,GCNT7,GNAS,GNAS-AS1,LOC100506384,LOC284757,MC3R,MIR296,MIR298,MIR4325,MIR4532,MIR4533,MIR4756,MIR5095,MTRNR2L3,NPEPL1,PCK1,PFDN4,PHACTR3,PMEPA1,PPP1R3D,PPP4R1L,RAB22A,RAE1,RBM38,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,SUMO1P1,SYCP2,TFAP2C,TH1L,TSHZ2,TUBB1,VAPB,ZBP1,ZFP64,ZNF217,ZNF831 chr20 50802396 50803396 Gain Osteosarcoma References 21215367 ZFP64 chr20 50940108 50940332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 50941461 50941561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 50946496 50947997 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr20 51000000 52100000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 TSHZ2 chr20 5100000 12100000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ANKRD5,BMP2,BTBD3,C20orf196,C20orf94,CDS2,CHGB,CRLS1,FERMT1,GPCPD1,HAO1,JAG1,LAMP5,LINC00654,LINC00658,LOC339593,LOC643406,LRRN4,MCM8,MKKS,PAK7,PCNA,PCNA-AS1,PLCB1,PLCB4,PROKR2,SNAP25,SNAP25-AS1,TMX4,TRMT6 chr20 5100000 17900000 Amplification Esophageal squamous carcinoma CGH 18350619 ANKRD5,BANF2,BFSP1,BMP2,BTBD3,C20orf196,C20orf94,CDS2,CHGB,CRLS1,DSTN,ESF1,FERMT1,FLRT3,GPCPD1,HAO1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00654,LINC00658,LOC339593,LOC643406,LRRN4,MACROD2,MACROD2-AS1,MCM8,MKKS,NDUFAF5,OTOR,PAK7,PCNA,PCNA-AS1,PCSK2,PLCB1,PLCB4,PROKR2,RRBP1,SEL1L2,SNAP25,SNAP25-AS1,SNRPB2,SPTLC3,TASP1,TMX4,TRMT6 chr20 5100000 17900000 Deletion Lung cancer Relied on a multipoint score function 16773561 ANKRD5,BANF2,BFSP1,BMP2,BTBD3,C20orf196,C20orf94,CDS2,CHGB,CRLS1,DSTN,ESF1,FERMT1,FLRT3,GPCPD1,HAO1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00654,LINC00658,LOC339593,LOC643406,LRRN4,MACROD2,MACROD2-AS1,MCM8,MKKS,NDUFAF5,OTOR,PAK7,PCNA,PCNA-AS1,PCSK2,PLCB1,PLCB4,PROKR2,RRBP1,SEL1L2,SNAP25,SNAP25-AS1,SNRPB2,SPTLC3,TASP1,TMX4,TRMT6 chr20 5100000 25600000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ABHD12,ACSS1,ANKRD5,APMAP,BANF2,BFSP1,BMP2,BTBD3,C20orf196,C20orf26,C20orf72,C20orf78,C20orf79,C20orf94,CD93,CDS2,CHGB,CRLS1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DSTN,DTD1,DZANK1,DZANK1-AS1,ENTPD6,ESF1,FERMT1,FLJ33581,FLRT3,FOXA2,GGTLC1,GINS1,GPCPD1,GZF1,HAO1,INSM1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC284788,LOC284798,LOC339593,LOC643406,LRRN4,MACROD2,MACROD2-AS1,MCM8,MIR3192,MKKS,NAA20,NANP,NAPB,NDUFAF5,NINL,NKX2-2,NKX2-4,NXT1,OTOR,OVOL2,PAK7,PAX1,PCNA,PCNA-AS1,PCSK2,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PROKR2,PYGB,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SEL1L2,SLC24A3,SNAP25,SNAP25-AS1,SNORD17,SNRPB2,SNX5,SPTLC3,SSTR4,SYNDIG1,TASP1,THBD,TMX4,TRMT6,VSX1,XRN2,ZNF133 chr20 5100000 25600000 Deletion Alagille syndrome references 17576883 ABHD12,ACSS1,ANKRD5,APMAP,BANF2,BFSP1,BMP2,BTBD3,C20orf196,C20orf26,C20orf72,C20orf78,C20orf79,C20orf94,CD93,CDS2,CHGB,CRLS1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DSTN,DTD1,DZANK1,DZANK1-AS1,ENTPD6,ESF1,FERMT1,FLJ33581,FLRT3,FOXA2,GGTLC1,GINS1,GPCPD1,GZF1,HAO1,INSM1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00654,LINC00656,LINC00658,LOC100130264,LOC100270679,LOC100270804,LOC284788,LOC284798,LOC339593,LOC643406,LRRN4,MACROD2,MACROD2-AS1,MCM8,MIR3192,MKKS,NAA20,NANP,NAPB,NDUFAF5,NINL,NKX2-2,NKX2-4,NXT1,OTOR,OVOL2,PAK7,PAX1,PCNA,PCNA-AS1,PCSK2,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,PROKR2,PYGB,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SEL1L2,SLC24A3,SNAP25,SNAP25-AS1,SNORD17,SNRPB2,SNX5,SPTLC3,SSTR4,SYNDIG1,TASP1,THBD,TMX4,TRMT6,VSX1,XRN2,ZNF133 chr20 5100000 42100000 Gain Anaplastic large cell lymphoma Array CGH 18179710 AAR2,ABHD12,ACSS1,ACSS2,ACTL10,ACTR5,ADIG,AHCY,ANKRD5,APMAP,ARHGAP40,ASIP,ASXL1,BANF2,BCL2L1,BFSP1,BLCAP,BMP2,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf112,C20orf118,C20orf132,C20orf144,C20orf152,C20orf160,C20orf173,C20orf196,C20orf203,C20orf24,C20orf26,C20orf72,C20orf78,C20orf79,C20orf94,CBFA2T2,CD93,CDK5RAP1,CDS2,CEP250,CHD6,CHGB,CHMP4B,COMMD7,COX4I2,CPNE1,CRLS1,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,CTNNBL1,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DLGAP4,DNMT3B,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EDEM2,EIF2S2,EIF6,EMILIN3,ENTPD6,EPB41L1,ERGIC3,ESF1,FAM182A,FAM182B,FAM83C,FAM83D,FER1L4,FERMT1,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GDF5,GGT7,GGTLC1,GHRH,GINS1,GPCPD1,GSS,GZF1,HAO1,HCK,HM13,HM13-AS1,HMGB3P1,ID1,INSM1,ISM1,ISM1-AS1,ITCH,JAG1,KIAA1755,KIF16B,KIF3B,LAMP5,LBP,LINC00028,LINC00261,LINC00489,LINC00493,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC100287792,LOC149950,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC643406,LPIN3,LRRN4,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MCM8,MIR3192,MIR3193,MIR4755,MIR499A,MIR499B,MIR644A,MIR663A,MKKS,MLLT10P1,MMP24,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NFS1,NINL,NKX2-2,NKX2-4,NNAT,NXT1,OTOR,OVOL2,PAK7,PAX1,PCNA,PCNA-AS1,PCSK2,PDRG1,PET117,PHF20,PIGU,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,POFUT1,POLR3F,PPP1R16B,PROCR,PROKR2,PSIMCT-1,PTPRT,PXMP4,PYGB,RALGAPA2,RALGAPB,RALY,RBBP9,RBL1,RBM12,RBM39,REM1,RIN2,ROMO1,RPN2,RPRD1B,RRBP1,SAMHD1,SCAND1,SEC23B,SEL1L2,SLA2,SLC24A3,SLC32A1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD17,SNRPB2,SNTA1,SNX5,SOGA1,SPAG4,SPTLC3,SRC,SRSF6,SSTR4,SUN5,SYNDIG1,TASP1,TGIF2,TGIF2-C20ORF24,TGM2,THBD,TM9SF4,TMX4,TOP1,TP53INP2,TPX2,TRMT6,TRPC4AP,TSPY26P,TTI1,TTLL9,UQCC,VSTM2L,VSX1,XKR7,XRN2,ZHX3,ZNF133,ZNF337,ZNF341 chr20 51022283 51537372 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 51022353 51540889 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 51022353 51540889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 51022353 51540889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 51026986 51790932 Amplification Breast cancer FISH 17142309 TSHZ2 chr20 51044196 51044296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51049132 51049232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51062613 51062693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 51072588 51072688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51108825 51108915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51109955 51110055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5111828 5137472 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 CDS2 chr20 51147598 51147890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 51147598 51147924 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 51147599 51147845 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 51154044 51836644 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 TSHZ2 chr20 51177806 51177906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51199482 51199560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51220753 51220788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51258049 51258149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51303441 51306518 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 513260 513332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSNK2A1 chr20 51387666 51387766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51409601 51612000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSHZ2 chr20 51451127 51451227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51460991 51461064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51471145 51471602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 51492007 51492107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 51520980 52376100 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 TSHZ2,ZNF217 chr20 51538902 51539527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 51560438 51584592 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 51591614 51628054 Gain and loss Pancreatic cancer SNP array 17952125 TSHZ2 chr20 51594561 51594669 Gain and loss Pancreatic cancer SNP array 17952125 TSHZ2 chr20 51594561 51594671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSHZ2 chr20 51602716 51625254 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSHZ2 chr20 51602716 51625254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSHZ2 chr20 51603033 51989829 Amplification Cancer Affymetrix 250K Sty array 20164920 TSHZ2 chr20 51606580 51620441 Gain and loss Pancreatic cancer SNP array 17952125 TSHZ2 chr20 51606896 51606996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ2 chr20 51610967 51611067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ2 chr20 51612001 51687900 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSHZ2 chr20 51617011 51643785 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSHZ2 chr20 51617011 51644208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSHZ2 chr20 51617011 51644208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSHZ2 chr20 51617016 51633043 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TSHZ2 chr20 51617016 51644208 Gain or loss Breast cancer - 20668451 TSHZ2 chr20 51617016 51644208 Gain or loss Cancer - 20668451 TSHZ2 chr20 51617016 51644208 Gain or loss Lung cancer - 20668451 TSHZ2 chr20 51617016 51644208 Gain or loss Ovarian cancer - 20668451 TSHZ2 chr20 51617016 51644208 Gain or loss Pancreas cancer - 20668451 TSHZ2 chr20 51617016 51644208 Gain or loss Prostate cancer - 20668451 TSHZ2 chr20 51617019 51633043 Gain and loss Pancreatic cancer SNP array 17952125 TSHZ2 chr20 51629605 51663567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSHZ2 chr20 51639582 51962634 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 TSHZ2 chr20 51681967 51685282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TSHZ2 chr20 51687901 52016800 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSHZ2 chr20 51718643 51718705 Gain and loss Pancreatic cancer SNP array 17952125 TSHZ2 chr20 51722131 51722650 Deletion Medulloblastoma Illumina SNP arrays 21163964 TSHZ2 chr20 51729455 51729504 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 TSHZ2 chr20 51745240 51757224 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TSHZ2 chr20 51748569 51773832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSHZ2 chr20 51767901 51771700 Deletion Glioma mate-paired sequence 20126413 TSHZ2 chr20 51775662 52144576 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 TSHZ2 chr20 51818030 52154620 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 TSHZ2 chr20 51836644 52874196 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BCAS1,CYP24A1,MIR4756,PFDN4,SUMO1P1,TSHZ2,ZNF217 chr20 51855501 51855560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ2 chr20 51868828 51868928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ2 chr20 51908207 51917753 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TSHZ2 chr20 51913635 51913734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TSHZ2 chr20 51925198 51925503 Gain and loss Pancreatic cancer SNP array 17952125 TSHZ2 chr20 51925198 51925503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSHZ2 chr20 51929408 53803157 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCAS1,CYP24A1,DOK5,MIR4756,PFDN4,SUMO1P1,TSHZ2,ZNF217 chr20 51929408 53972534 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCAS1,CYP24A1,DOK5,MIR4756,PFDN4,SUMO1P1,TSHZ2,ZNF217 chr20 51931857 51931957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ2 chr20 51991404 52120491 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSHZ2 chr20 51991404 52120491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSHZ2 chr20 51991404 52120491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSHZ2 chr20 51993485 52120711 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TSHZ2 chr20 51993485 52120711 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TSHZ2 chr20 51993924 52120490 Gain and loss Pancreatic cancer SNP array 17952125 TSHZ2 chr20 51994175 51994796 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TSHZ2 chr20 52001621 52001721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ2 chr20 5201045 5201121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52016801 52244500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TSHZ2,ZNF217 chr20 52036066 52037066 Loss Osteosarcoma References 21215367 TSHZ2 chr20 52039440 52040440 Loss Osteosarcoma References 21215367 TSHZ2 chr20 52043586 52043686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ2 chr20 52070988 52105522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSHZ2 chr20 52080000 53240000 Gain Breast cancer aCGH 21509527 BCAS1,CYP24A1,DOK5,MIR4756,PFDN4,SUMO1P1,TSHZ2,ZNF217 chr20 52080472 52091409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TSHZ2 chr20 52080513 52091487 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TSHZ2 chr20 52080732 52080832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSHZ2 chr20 52081215 52092058 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TSHZ2 chr20 52081215 52092059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSHZ2 chr20 52144576 60657976 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 APCDD1L,APCDD1L-AS1,ATP5E,AURKA,BCAS1,BMP7,C20orf197,C20orf43,C20orf85,CASS4,CBLN4,CDH26,CDH4,CSTF1,CTCFL,CTSZ,CYP24A1,DOK5,EDN3,FAM209A,FAM209B,FAM210B,FAM217B,GCNT7,GNAS,GNAS-AS1,LOC100506384,LOC284757,MC3R,MIR1257,MIR296,MIR298,MIR4325,MIR4532,MIR4533,MIR4756,MIR5095,MTRNR2L3,NPEPL1,PCK1,PFDN4,PHACTR3,PMEPA1,PPP1R3D,PPP4R1L,RAB22A,RAE1,RBM38,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,SUMO1P1,SYCP2,TAF4,TFAP2C,TH1L,TUBB1,VAPB,ZBP1,ZNF217,ZNF831 chr20 52154620 52996095 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BCAS1,CYP24A1,MIR4756,PFDN4,SUMO1P1,ZNF217 chr20 52163530 52164530 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 52183612 52199707 Amplification Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 ZNF217 chr20 52203395 52223931 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 52203395 52223931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 52203395 52223931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 52203395 52223931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 52206438 52207438 Gain Chordoma References 21215367 NOT_FOUND chr20 52208530 52209530 Gain Chordoma References 21215367 NOT_FOUND chr20 5221034 5221477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5221034 5221477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 52213802 52213867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52244501 52978200 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCAS1,CYP24A1,MIR4756,PFDN4,SUMO1P1 chr20 52257908 52269899 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 52257909 52269898 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 52257909 52269898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 52257909 52269898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 52258047 52269899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5229253 6659863 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C20orf196,CHGB,CRLS1,FERMT1,GPCPD1,LINC00654,LINC00658,LOC643406,LRRN4,MCM8,PROKR2,TRMT6 chr20 52299645 52300749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 5230622 5243059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5230622 5243059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5230686 5243015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 52355213 52355287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52379745 52379829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5243001 5246000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 5244222 5246369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 52483567 62435964 Loss Medulloblastoma array-CGH 16783165 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BCAS1,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,CYP24A1,DIDO1,DOK5,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4756,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PFDN4,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SUMO1P1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 52525570 52701097 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCAS1,MIR4756 chr20 52525570 52701097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCAS1,MIR4756 chr20 52525570 52701097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCAS1,MIR4756 chr20 52525664 52701114 Gain and loss Pancreatic cancer SNP array 17952125 BCAS1,MIR4756 chr20 52592989 52593067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS1 chr20 52637702 52637947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS1 chr20 52674520 52674553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCAS1 chr20 52703121 52703221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52725026 52725221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52725134 52725203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52725222 52725330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52726059 52726372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 52734667 52734767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52735390 52735439 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 5274527 5728520 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 GPCPD1,LINC00654,LINC00658,LOC643406,PROKR2 chr20 5274652 5274806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5274668 5274803 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5274711 5274767 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5276425 5276525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52777449 52777520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP24A1 chr20 5278047 8044130 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 BMP2,C20orf196,CHGB,CRLS1,FERMT1,GPCPD1,HAO1,LINC00654,LINC00658,LOC643406,LRRN4,MCM8,PROKR2,TMX4,TRMT6 chr20 52782472 52782572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP24A1 chr20 52797207 52797307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52843501 52845000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 52853092 53531064 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 DOK5 chr20 52874196 53720620 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 DOK5 chr20 52902729 52902829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52909633 52909758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 52909633 52909758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 52966624 52966924 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 52978201 54091400 Copy number Normal ReadDepth: A Parallel R Package 21305028 DOK5 chr20 5298881 5298976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 52996095 53635616 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 DOK5 chr20 53000000 54000000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 DOK5 chr20 53005625 53005674 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 53006179 53006279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53036889 53038503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 5303738 5303832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53054397 53054497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53085903 53085996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53119069 53131323 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DOK5 chr20 53124515 53125086 Gain and loss Pancreatic cancer SNP array 17952125 DOK5 chr20 53124590 53125086 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DOK5 chr20 53124590 53125086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOK5 chr20 53150545 53150604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOK5 chr20 53166874 53166974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOK5 chr20 53236812 53448810 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 DOK5 chr20 532441 538953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 532441 538953 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 532441 538953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 53274080 53274145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53319914 53320014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53397198 53397275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 53397279 53397356 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 53401604 53402143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 53475058 53476058 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 53496318 53496418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53635616 54981976 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AURKA,CBLN4,CSTF1,FAM210B,MC3R chr20 53641001 53642500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 53642040 53642186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 53645439 53645539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53647362 53647494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 53671106 53671794 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 53720620 54840084 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CBLN4,MC3R chr20 53727067 54179752 Amplification Breast cancer FISH 17142309 NOT_FOUND chr20 53761627 53761850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53761884 53762027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53774256 53774341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53829990 53874573 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 53850585 53876582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 53862143 53877418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 53866101 53876100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 53868018 53874023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 53896628 53896944 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 53903731 53926688 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 53903731 53932545 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 53912252 53912352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 53920256 53920435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 5399852 5405780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5399852 5405780 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5399852 5405780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54005902 54013419 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 54005902 54013419 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 54005904 54013937 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54005904 54013937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54005904 54013937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54005904 54013937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54011501 54014000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 54017554 54017654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5402286 5508522 Duplication Normal Affymetrix 6.0 microarrays 20967226 LINC00654,LINC00658,LOC643406 chr20 54086340 56395164 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AURKA,BMP7,C20orf43,CASS4,CBLN4,CSTF1,CTCFL,FAM209A,FAM209B,FAM210B,GCNT7,MC3R,MIR4325,MIR5095,MTRNR2L3,PCK1,PMEPA1,RAE1,RBM38,SPO11,TFAP2C,ZBP1 chr20 54091401 54369700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 54213517 54213636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54213545 54213636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54213545 54213636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 542428 542481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 54257194 54258278 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 54257194 54258278 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 54257194 54258278 Gain or loss Cancer - 20668451 NOT_FOUND chr20 54257194 54258278 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 54257194 54258278 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 54257194 54258278 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 54257194 54258278 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 54257195 54258278 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54257195 54258278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54257195 54258278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54257195 54258278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54275001 54633500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBLN4 chr20 54276335 54277694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5428977 5433259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54331409 57005113 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AURKA,BMP7,C20orf43,C20orf85,CASS4,CBLN4,CSTF1,CTCFL,FAM209A,FAM209B,FAM210B,GCNT7,MC3R,MIR4325,MIR4532,MIR5095,MTRNR2L3,PCK1,PMEPA1,PPP4R1L,RAB22A,RAE1,RBM38,SPO11,TFAP2C,VAPB,ZBP1 chr20 54337486 56601858 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AURKA,BMP7,C20orf43,CASS4,CBLN4,CSTF1,CTCFL,FAM209A,FAM209B,FAM210B,GCNT7,MC3R,MIR4325,MIR4532,MIR5095,MTRNR2L3,PCK1,PMEPA1,RAE1,RBM38,SPO11,TFAP2C,ZBP1 chr20 54360716 54360808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 54367389 54377125 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 54367390 54377116 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54367390 54377116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54367390 54377116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54367429 54377116 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54369701 54648000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBLN4 chr20 54377851 54400758 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 54377851 54400758 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 54377851 54400758 Gain or loss Cancer - 20668451 NOT_FOUND chr20 54377851 54400758 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 54377851 54400758 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 54377851 54400758 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 54377851 54400758 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 54377852 54400758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54377852 54400800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54377852 54400800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54377852 54400800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54400000 55900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AURKA,BMP7,C20orf43,CASS4,CBLN4,CSTF1,FAM209A,FAM209B,FAM210B,GCNT7,MC3R,MIR4325,TFAP2C chr20 54400000 55900000 Deletion CNS Malformation Syndrome aCGH 17530927 AURKA,BMP7,C20orf43,CASS4,CBLN4,CSTF1,FAM209A,FAM209B,FAM210B,GCNT7,MC3R,MIR4325,TFAP2C chr20 54400000 55900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AURKA,BMP7,C20orf43,CASS4,CBLN4,CSTF1,FAM209A,FAM209B,FAM210B,GCNT7,MC3R,MIR4325,TFAP2C chr20 54400000 55900000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 AURKA,BMP7,C20orf43,CASS4,CBLN4,CSTF1,FAM209A,FAM209B,FAM210B,GCNT7,MC3R,MIR4325,TFAP2C chr20 54400000 62435964 Amplification Biliary cancer Array CGH 19435499 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54400000 62435964 Copy number Autosomal dominant nocturnal frontal lobe epilepsy - 18472482 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54400000 62435964 Copy number benign familial neonatal convulsions - 18472482 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54400000 62435964 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54400000 62435964 Gain Normal Human genome CGH 66k ARRAY PLATFORM 22144094 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54400000 62435964 Loss Normal Human genome CGH 71k ARRAY PLATFORM 22144094 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54400000 62435964 Microdeletion Pseudohypoparathyroidism type Ib 100K SNP chip 20965295 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54400000 62435964 Translocation Developmental delay FISH 19490664 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CBLN4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54400981 54412989 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54400981 54412989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54400981 54412989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54401026 54412514 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54420575 54467243 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54420575 54467243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54420575 54467243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54420575 54467803 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54450469 54452021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 54467891 54468046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54468729 54468820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54477053 54527349 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 54477077 54527350 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54477077 54527350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54477077 54527350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54477092 54527347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54484106 54484207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54484106 54484207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54499955 54534388 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54499955 54534388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54500000 54600000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 CBLN4 chr20 54500021 54534388 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54502873 54502931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 54504005 54504105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 54508779 54508864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 54512317 54543708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54530820 54531262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54530820 54531262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54532955 54534605 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54532955 54534605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54532955 54534605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54533231 54534202 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54541709 54544983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54541709 54544983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54541709 54544983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54541764 54544973 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54581582 54581650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 54582034 54582082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 54587634 54587734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 54610163 54610527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54610164 54610520 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5461524 5461981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54616141 54616209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54616141 54616209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5462159 5462281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 546278 915957 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ANGPT4,FAM110A,SCRT2,SLC52A3,SRXN1,TCF15 chr20 54633501 54638500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 54637764 54647745 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 54637764 54647745 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr20 54637765 54647743 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 54637765 54647743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54637765 54647743 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54637765 54647743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54638501 55089500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AURKA,C20orf43,CASS4,CSTF1,FAM210B,GCNT7,MC3R chr20 54648001 54951600 Copy number Normal ReadDepth: A Parallel R Package 21305028 AURKA,FAM210B,MC3R chr20 54663090 54663190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 54675893 54675994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54675893 54675994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54696864 54697156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54696864 54697157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54696864 54697157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54709300 54709977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54727349 54727432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54727799 62434349 Gain Malignant melanoma BAC array CGH 17260012 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM210B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MC3R,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 5473081 5539672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPCPD1,LINC00654 chr20 5473081 5539672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPCPD1,LINC00654 chr20 5473087 5539664 Gain and loss Pancreatic cancer SNP array 17952125 GPCPD1,LINC00654 chr20 5477486 5478127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54790483 54790650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 54794444 54794550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 54794444 54794550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 54817268 54817367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5482546 5482921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00654 chr20 54840084 55549988 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AURKA,C20orf43,CASS4,CSTF1,FAM209A,FAM209B,FAM210B,GCNT7,TFAP2C chr20 54951601 55103400 Copy number Normal ReadDepth: A Parallel R Package 21305028 AURKA,C20orf43,CASS4,CSTF1,FAM209A,GCNT7 chr20 54960000 62580000 Gain Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 ABHD16B,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,AURKA,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf43,C20orf85,CABLES2,CASS4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CSTF1,CTCFL,CTSZ,DIDO1,DNAJC5,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TFAP2C,TH1L,TNFRSF6B,TPD52L2,TUBB1,UCKL1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 54979693 55024761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CASS4 chr20 54981976 55318566 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C20orf43,CASS4,FAM209A,FAM209B,GCNT7,TFAP2C chr20 55000000 63025520 Amplification Ovarian cancer Real-Time PCR 17437010 ABHD16B,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,C20orf43,C20orf85,CABLES2,CASS4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CTCFL,CTSZ,DIDO1,DNAJC5,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MTRNR2L3,MYT1,NKAIN4,NPBWR2,NPEPL1,NTSR1,OGFR,OPRL1,OSBPL2,PCK1,PCMTD2,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PRPF6,PSMA7,PTK6,RAB22A,RAE1,RBM38,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SOX18,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCEA2,TCFL5,TFAP2C,TH1L,TNFRSF6B,TPD52L2,TUBB1,UCKL1,UCKL1-AS1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF512B,ZNF831 chr20 55000000 63025520 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD16B,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,C20orf43,C20orf85,CABLES2,CASS4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CTCFL,CTSZ,DIDO1,DNAJC5,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MTRNR2L3,MYT1,NKAIN4,NPBWR2,NPEPL1,NTSR1,OGFR,OPRL1,OSBPL2,PCK1,PCMTD2,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PRPF6,PSMA7,PTK6,RAB22A,RAE1,RBM38,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SOX18,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCEA2,TCFL5,TFAP2C,TH1L,TNFRSF6B,TPD52L2,TUBB1,UCKL1,UCKL1-AS1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF512B,ZNF831 chr20 55000000 63025520 Gain Gastric cancer 5K BAC array CGH 17908304 ABHD16B,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,BHLHE23,BIRC7,BMP7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,C20orf43,C20orf85,CABLES2,CASS4,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CTCFL,CTSZ,DIDO1,DNAJC5,DPH3P1,EDN3,EEF1A2,FAM209A,FAM209B,FAM217B,FLJ16779,GATA5,GCNT7,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3196,MIR4325,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MTRNR2L3,MYT1,NKAIN4,NPBWR2,NPEPL1,NTSR1,OGFR,OPRL1,OSBPL2,PCK1,PCMTD2,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PRPF6,PSMA7,PTK6,RAB22A,RAE1,RBM38,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SOX18,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCEA2,TCFL5,TFAP2C,TH1L,TNFRSF6B,TPD52L2,TUBB1,UCKL1,UCKL1-AS1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF512B,ZNF831 chr20 55019419 55019512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CASS4 chr20 55020787 55021290 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CASS4 chr20 55020804 55021298 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CASS4 chr20 55035603 55035637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55038232 55038332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55038894 55039158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 55042669 55087417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C20orf43,GCNT7 chr20 55089501 55240500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf43,FAM209A,FAM209B,GCNT7,TFAP2C chr20 55096989 59483462 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 APCDD1L,APCDD1L-AS1,ATP5E,BMP7,C20orf197,C20orf85,CDH26,CTCFL,CTSZ,EDN3,FAM209A,FAM209B,FAM217B,GCNT7,GNAS,GNAS-AS1,LOC100506384,LOC284757,MIR296,MIR298,MIR4325,MIR4532,MIR4533,MIR5095,MTRNR2L3,NPEPL1,PCK1,PHACTR3,PMEPA1,PPP1R3D,PPP4R1L,RAB22A,RAE1,RBM38,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,SYCP2,TFAP2C,TH1L,TUBB1,VAPB,ZBP1,ZNF831 chr20 55103401 55305800 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM209B,TFAP2C chr20 55111937 55286961 Insert Cancer ultra-high resolution array CGH 21272361 TFAP2C chr20 55114204 55115476 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55119101 55119204 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 55177215 55275114 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TFAP2C chr20 5517822 5625793 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPCPD1 chr20 55178962 55274708 Gain and loss Pancreatic cancer SNP array 17952125 TFAP2C chr20 55178962 55275092 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TFAP2C chr20 55178962 55275092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFAP2C chr20 55178962 55275092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFAP2C chr20 55198822 55198894 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 55227517 55227790 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr20 5523763 5614827 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPCPD1 chr20 5523763 5619460 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPCPD1 chr20 55240501 55273500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55273501 55277000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55277001 55393500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55305801 56849100 Copy number Normal ReadDepth: A Parallel R Package 21305028 BMP7,C20orf85,CTCFL,MIR4325,MIR4532,MIR5095,MTRNR2L3,PCK1,PMEPA1,PPP4R1L,RAE1,RBM38,SPO11,ZBP1 chr20 55318566 57203470 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 APCDD1L,APCDD1L-AS1,BMP7,C20orf85,CTCFL,MIR4325,MIR4532,MIR5095,MTRNR2L3,PCK1,PMEPA1,PPP4R1L,RAB22A,RAE1,RBM38,SPO11,VAPB,ZBP1 chr20 55320317 55320419 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55337009 55337159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55338222 55352455 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55338222 55352457 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 55338222 55352457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55338222 55352457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55338237 55352456 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 55359551 55386926 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr20 55359551 55386926 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 55359552 55387674 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 55359552 55387674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55359552 55387674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55359722 55386918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55360024 55386926 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 55364091 55364191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55365889 55366832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55366835 55366909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55366835 55366909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55368454 55368522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55368454 55368522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55369447 55369517 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55369447 55369517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55385686 55417006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 55392623 55401524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55393501 55452000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55393521 55393589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55399411 55400534 Loss Normal 244K array 17666407 NOT_FOUND chr20 55399869 55417792 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 55399869 55417792 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 55399870 55417786 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55399870 55417795 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 55399870 55417795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55400045 55417786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55400045 55417786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55403115 55403948 Gain Normal 244K array 17666407 NOT_FOUND chr20 55418844 55418927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55425941 55425941 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 55448662 55448762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55452001 55480500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55480501 55586000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55496854 55497489 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 55496854 55497489 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 55496854 55497489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55496854 55497489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55496854 55497489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55500015 55500095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55504426 55534114 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 55505629 55533560 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 55505630 55534041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 55505630 55534041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55505630 55534041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55505638 55533671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55520000 56300000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 BMP7,CTCFL,MIR4325,MIR5095,MTRNR2L3,PCK1,PMEPA1,RAE1,RBM38,SPO11,ZBP1 chr20 55528395 55563428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 55549988 56396412 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BMP7,CTCFL,MIR4325,MIR5095,MTRNR2L3,PCK1,PMEPA1,RAE1,RBM38,SPO11,ZBP1 chr20 55569542 55574919 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 55569543 55574922 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 55569543 55574922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55569543 55574922 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55569543 55574922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55586001 55627000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55602879 55629025 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55604184 55815784 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BMP7 chr20 55604184 55914083 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BMP7,MIR4325,MIR5095,SPO11 chr20 55604184 56121677 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 BMP7,CTCFL,MIR4325,MIR5095,MTRNR2L3,RAE1,RBM38,SPO11 chr20 55604184 56121677 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BMP7,CTCFL,MIR4325,MIR5095,MTRNR2L3,RAE1,RBM38,SPO11 chr20 55612307 55628935 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 55612308 55629038 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 55612308 55629038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55612308 55629038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55627001 55660500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55630436 55630471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55633244 55734303 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 NOT_FOUND chr20 55656854 55719947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 55656854 55719947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55656854 55719947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 55656857 55719947 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 55656860 55719947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 55660501 55673500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55665561 55914083 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BMP7,MIR4325,MIR5095,SPO11 chr20 55673501 55727500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 55686959 55687059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55702857 55702957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55717330 55718832 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 55727501 56237500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BMP7,CTCFL,MIR4325,MIR5095,MTRNR2L3,PCK1,PMEPA1,RAE1,RBM38,SPO11,ZBP1 chr20 55744225 55754966 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 BMP7 chr20 55746524 55746624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMP7 chr20 55752136 55752230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMP7 chr20 55753271 55753319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMP7 chr20 55785587 55785687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BMP7 chr20 55792873 55793873 Gain Osteosarcoma References 21215367 BMP7 chr20 55835107 55869124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BMP7 chr20 55879971 55880056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 55900000 57900000 Amplification Biliary cancer Array CGH 19435499 APCDD1L,APCDD1L-AS1,ATP5E,C20orf85,CTCFL,CTSZ,EDN3,GNAS,GNAS-AS1,MIR296,MIR298,MIR4532,MIR5095,MTRNR2L3,NPEPL1,PCK1,PMEPA1,PPP4R1L,RAB22A,RAE1,RBM38,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,TH1L,TUBB1,VAPB,ZBP1,ZNF831 chr20 55900000 57900000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 APCDD1L,APCDD1L-AS1,ATP5E,C20orf85,CTCFL,CTSZ,EDN3,GNAS,GNAS-AS1,MIR296,MIR298,MIR4532,MIR5095,MTRNR2L3,NPEPL1,PCK1,PMEPA1,PPP4R1L,RAB22A,RAE1,RBM38,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,TH1L,TUBB1,VAPB,ZBP1,ZNF831 chr20 55900000 57900000 Copy number Non-syndromic sensorineural hearing loss multiplex ligation-dependent probe amplification 20456320 APCDD1L,APCDD1L-AS1,ATP5E,C20orf85,CTCFL,CTSZ,EDN3,GNAS,GNAS-AS1,MIR296,MIR298,MIR4532,MIR5095,MTRNR2L3,NPEPL1,PCK1,PMEPA1,PPP4R1L,RAB22A,RAE1,RBM38,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,TH1L,TUBB1,VAPB,ZBP1,ZNF831 chr20 55900000 57900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APCDD1L,APCDD1L-AS1,ATP5E,C20orf85,CTCFL,CTSZ,EDN3,GNAS,GNAS-AS1,MIR296,MIR298,MIR4532,MIR5095,MTRNR2L3,NPEPL1,PCK1,PMEPA1,PPP4R1L,RAB22A,RAE1,RBM38,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,TH1L,TUBB1,VAPB,ZBP1,ZNF831 chr20 55900000 57900000 Duplication Heart disease Illumina 634Quad Beadchip platform 21282601 APCDD1L,APCDD1L-AS1,ATP5E,C20orf85,CTCFL,CTSZ,EDN3,GNAS,GNAS-AS1,MIR296,MIR298,MIR4532,MIR5095,MTRNR2L3,NPEPL1,PCK1,PMEPA1,PPP4R1L,RAB22A,RAE1,RBM38,SLMO2,SLMO2-ATP5E,SPO11,STX16,STX16-NPEPL1,TH1L,TUBB1,VAPB,ZBP1,ZNF831 chr20 55900000 62435964 Gain Breast cancer aCGH 21045282 ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf85,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CTCFL,CTSZ,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR296,MIR298,MIR3196,MIR4326,MIR4532,MIR4533,MIR4758,MIR5095,MTRNR2L3,NKAIN4,NPEPL1,NTSR1,OGFR,OSBPL2,PCK1,PHACTR3,PMEPA1,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PSMA7,PTK6,RAB22A,RAE1,RBM38,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SPO11,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCFL5,TH1L,TNFRSF6B,TUBB1,VAPB,YTHDF1,ZBP1,ZBTB46,ZGPAT,ZNF831 chr20 55927346 55927497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5095,RAE1 chr20 55965588 55968122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR5095,RBM38 chr20 55965588 55968122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5095,RBM38 chr20 55965588 55968122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5095,RBM38 chr20 55972678 56006356 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR5095,RBM38 chr20 55984480 55984555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5095 chr20 56012095 56012195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5605247 5631309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 5606088 5625793 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 56075918 56076069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTCFL chr20 56102555 56102610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56155629 56155729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56159388 56169589 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 56159389 56169587 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 56159389 56169587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56159389 56169587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 56159389 56169587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56211675 56211775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56221514 56221744 Gain Normal 244K array 17666407 NOT_FOUND chr20 56226957 56236800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PMEPA1 chr20 56226957 56236800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PMEPA1 chr20 56226957 56236800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PMEPA1 chr20 56226957 56237091 Gain and loss Pancreatic cancer SNP array 17952125 PMEPA1 chr20 56228045 56228139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PMEPA1 chr20 56239593 56317901 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PMEPA1 chr20 56239595 56339933 Gain and loss Pancreatic cancer SNP array 17952125 PMEPA1 chr20 56240232 56317901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PMEPA1 chr20 56240232 56317901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PMEPA1 chr20 56241239 56317901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PMEPA1 chr20 56241239 56317901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PMEPA1 chr20 56246028 56246063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PMEPA1 chr20 56246381 56317901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PMEPA1 chr20 5626368 6884513 LOH Normal High-resolution SNP genotyping 21211785 BMP2,C20orf196,CHGB,CRLS1,FERMT1,LRRN4,MCM8,TRMT6 chr20 56283551 56283641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PMEPA1 chr20 5629664 5632729 Loss Normal 244K array 17666407 NOT_FOUND chr20 56318176 56375969 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 56318177 56375960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 56318177 56375966 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 56318177 56375966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56318177 56375966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56373559 56412822 Gain small cell lung cancer Real-time Quantitative PCR 17426248 NOT_FOUND chr20 56396412 56860580 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C20orf85,MIR4532,PPP4R1L chr20 56397584 56455365 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 56397650 56455369 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr20 56397650 56455369 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 56397651 56455365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56397651 56455365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56397651 56455367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 56442572 56448511 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 56459513 56504587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4532 chr20 56465501 56715000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4532 chr20 56467831 56523355 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 MIR4532 chr20 56467832 56523355 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4532 chr20 56467832 56523355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4532 chr20 56467832 56523355 Gain and loss Pancreatic cancer SNP array 17952125 MIR4532 chr20 56467832 56523355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4532 chr20 5646840 5646940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56500000 58400000 Gain Gastric cancer Array CGH 16891809 APCDD1L,APCDD1L-AS1,ATP5E,C20orf85,CTSZ,EDN3,GNAS,GNAS-AS1,LOC100506384,MIR296,MIR298,NPEPL1,PHACTR3,PPP4R1L,RAB22A,SLMO2,SLMO2-ATP5E,STX16,STX16-NPEPL1,TH1L,TUBB1,VAPB,ZNF831 chr20 56500000 63025520 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ABHD16B,ADRM1,APCDD1L,APCDD1L-AS1,ARFGAP1,ARFRP1,ATP5E,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,C20orf85,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,CTSZ,DIDO1,DNAJC5,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GNAS,GNAS-AS1,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR296,MIR298,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NPEPL1,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PPP4R1L,PRIC285,PRPF6,PSMA7,PTK6,RAB22A,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SLMO2,SLMO2-ATP5E,SOX18,SRMS,SS18L1,STMN3,STX16,STX16-NPEPL1,SYCP2,TAF4,TCEA2,TCFL5,TH1L,TNFRSF6B,TPD52L2,TUBB1,UCKL1,UCKL1-AS1,VAPB,YTHDF1,ZBTB46,ZGPAT,ZNF512B,ZNF831 chr20 56507165 56507235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56534969 56535059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56550658 56550873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 56550690 56550905 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 56594062 56595018 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 56613546 56613689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56622489 56639215 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 56633949 59361400 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 APCDD1L,APCDD1L-AS1,ATP5E,C20orf197,C20orf85,CDH26,CTSZ,EDN3,FAM217B,GNAS,GNAS-AS1,LOC100506384,LOC284757,MIR296,MIR298,MIR4533,NPEPL1,PHACTR3,PPP1R3D,PPP4R1L,RAB22A,SLMO2,SLMO2-ATP5E,STX16,STX16-NPEPL1,SYCP2,TH1L,TUBB1,VAPB,ZNF831 chr20 56634690 56634791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56643234 56644178 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 56643234 56644195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 56655000 56925000 Microdeletion Pseudohypoparathyroidism type Ib - 20538864 C20orf85,PPP4R1L,RAB22A chr20 56655000 56925000 Microdeletion Pseudohypoparathyroidism type Ib High Pure PCR Template Preparation Kit 18617581 C20orf85,PPP4R1L,RAB22A chr20 56659733 56687988 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr20 56659733 56687988 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 56659733 56687988 Deletion Pseudohypoparathyroidism multiplex PCR technique 20061437 NOT_FOUND chr20 56659733 56687988 Deletion Pseudohypoparathyroidism type Ib multiplex PCR technique 17595244 NOT_FOUND chr20 56659734 56687986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 56659734 56687988 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 56659734 56723873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 56659734 56723873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56659734 56723873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56667923 56668117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56697792 56697842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56699826 56700152 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 56700187 56724774 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 56701268 56724307 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 56701363 56724306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56701363 56724306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 56701363 56727701 Gain and loss Pancreatic cancer SNP array 17952125 C20orf85 chr20 56715001 56727000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf85 chr20 5672046 5705578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 56725827 56727694 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C20orf85 chr20 56725827 56727694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf85 chr20 567392 613551 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 TCF15 chr20 56748983 56792272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5679043 5792556 Gain and loss Pancreatic cancer SNP array 17952125 C20orf196 chr20 5679047 5793020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf196 chr20 5679047 5793020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf196 chr20 56792501 56832500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP4R1L chr20 56802702 56802802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56808462 56808582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP4R1L chr20 56826065 56826144 Gain and loss Pancreatic cancer SNP array 17952125 PPP4R1L chr20 56826065 56826144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R1L chr20 56826676 56826763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R1L chr20 56827367 56859353 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PPP4R1L chr20 56827368 56859353 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PPP4R1L chr20 56848001 56850500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP4R1L chr20 56848168 56919644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP4R1L,RAB22A chr20 56848168 56919644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R1L,RAB22A chr20 56848189 56919645 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PPP4R1L,RAB22A chr20 56848189 56919645 Deletion Pseudohypoparathyroidism CGH 20008020 PPP4R1L,RAB22A chr20 56848189 56919645 Deletion Pseudohypoparathyroidism type Ib - 20427744 PPP4R1L,RAB22A chr20 56848189 56919645 Deletion Pseudohypoparathyroidism type Ib - 20444925 PPP4R1L,RAB22A chr20 56848189 56919645 Deletion T-cell acute lymphoblastic leukemia FISH 20065082 PPP4R1L,RAB22A chr20 56848189 56919645 Gain or loss Breast cancer - 20668451 PPP4R1L,RAB22A chr20 56848189 56919645 Gain or loss Cancer - 20668451 PPP4R1L,RAB22A chr20 56848189 56919645 Gain or loss Lung cancer - 20668451 PPP4R1L,RAB22A chr20 56848189 56919645 Gain or loss Ovarian cancer - 20668451 PPP4R1L,RAB22A chr20 56848189 56919645 Gain or loss Pancreas cancer - 20668451 PPP4R1L,RAB22A chr20 56848189 56919645 Gain or loss Prostate cancer - 20668451 PPP4R1L,RAB22A chr20 56848190 56919640 Gain and loss Pancreatic cancer SNP array 17952125 PPP4R1L,RAB22A chr20 56849101 57861100 Copy number Normal ReadDepth: A Parallel R Package 21305028 APCDD1L,APCDD1L-AS1,ATP5E,CTSZ,GNAS,GNAS-AS1,MIR296,MIR298,NPEPL1,PPP4R1L,RAB22A,SLMO2,SLMO2-ATP5E,STX16,STX16-NPEPL1,TH1L,TUBB1,VAPB,ZNF831 chr20 5685027 5722759 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 56859001 56863500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP4R1L chr20 56861431 56919644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPP4R1L,RAB22A chr20 56861431 56919644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP4R1L,RAB22A chr20 56861431 56919644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP4R1L,RAB22A chr20 5686734 5686779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56897001 56899500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAB22A chr20 56900163 56919645 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RAB22A chr20 56906886 56906986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB22A chr20 56947477 56947577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 56973501 56977000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VAPB chr20 56989001 56991000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VAPB chr20 56989705 57003583 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 VAPB chr20 56989705 57003583 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 VAPB chr20 56989706 57003581 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VAPB chr20 56989706 57003581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VAPB chr20 56989706 57003581 Gain and loss Pancreatic cancer SNP array 17952125 VAPB chr20 56989706 57003581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAPB chr20 56989706 57003583 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 VAPB chr20 56990585 57015697 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VAPB chr20 56990585 57015697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VAPB chr20 56990585 57015697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAPB chr20 57003634 57015680 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 VAPB chr20 57003638 57015687 Gain and loss Pancreatic cancer SNP array 17952125 VAPB chr20 57005113 57295733 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 APCDD1L,APCDD1L-AS1,NPEPL1,STX16,STX16-NPEPL1,VAPB chr20 57007501 57028000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VAPB chr20 57027703 57035104 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 APCDD1L chr20 57027704 57035104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 APCDD1L chr20 57027704 57035104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APCDD1L chr20 57027704 57035104 Gain and loss Pancreatic cancer SNP array 17952125 APCDD1L chr20 57027704 57035104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APCDD1L chr20 57032330 57032440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 57032330 57032440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57034423 57040817 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 APCDD1L chr20 57034423 57040817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APCDD1L chr20 57034423 57040817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APCDD1L chr20 57037127 57040817 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 APCDD1L chr20 57037127 57040817 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 APCDD1L chr20 57037127 57040817 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 APCDD1L chr20 57037129 57040817 Gain and loss Pancreatic cancer SNP array 17952125 APCDD1L chr20 57041594 57051296 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 APCDD1L chr20 57041595 57051296 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 APCDD1L chr20 57041596 57051296 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 APCDD1L chr20 57041596 57051296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APCDD1L chr20 57041596 57051296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APCDD1L chr20 57041601 57051264 Gain and loss Pancreatic cancer SNP array 17952125 APCDD1L chr20 57054210 57088313 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APCDD1L chr20 57121674 57122081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APCDD1L-AS1 chr20 57141393 57141806 Gain and loss Pancreatic cancer SNP array 17952125 APCDD1L-AS1 chr20 57156840 57157173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APCDD1L-AS1 chr20 57158917 57158987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APCDD1L-AS1 chr20 57159470 57159545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APCDD1L-AS1 chr20 5716205 5750840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C20orf196 chr20 57199469 57267562 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NPEPL1,STX16,STX16-NPEPL1 chr20 57199470 57267563 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NPEPL1,STX16,STX16-NPEPL1 chr20 57199470 57267563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPEPL1,STX16,STX16-NPEPL1 chr20 57199470 57267563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPEPL1,STX16,STX16-NPEPL1 chr20 57200603 57264478 Gain and loss Pancreatic cancer SNP array 17952125 NPEPL1,STX16,STX16-NPEPL1 chr20 57201501 57203000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 57203001 57566500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GNAS,GNAS-AS1,MIR296,MIR298,NPEPL1,STX16,STX16-NPEPL1,TH1L chr20 57203470 57607378 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP5E,CTSZ,GNAS,GNAS-AS1,MIR296,MIR298,NPEPL1,SLMO2-ATP5E,STX16,STX16-NPEPL1,TH1L,TUBB1 chr20 57219300 57219515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 57251288 57258489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STX16,STX16-NPEPL1 chr20 57267190 57267381 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NPEPL1,STX16-NPEPL1 chr20 57276308 57310515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NPEPL1,STX16-NPEPL1 chr20 57295733 59998499 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP5E,C20orf197,CDH26,CDH4,CTSZ,EDN3,FAM217B,GNAS,GNAS-AS1,LOC100506384,LOC284757,MIR296,MIR298,MIR4533,PHACTR3,PPP1R3D,SLMO2,SLMO2-ATP5E,SYCP2,TH1L,TUBB1,ZNF831 chr20 57308877 57334441 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 57308877 57334441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57308877 57334441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 57308877 57334441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57308893 57334442 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 57308893 57334442 Copy number Hirschsprung's Disease MLPA 19925665 NOT_FOUND chr20 57309117 57309217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 57313773 58438467 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP5E,CTSZ,EDN3,GNAS,GNAS-AS1,LOC100506384,MIR296,MIR298,PHACTR3,SLMO2,SLMO2-ATP5E,TH1L,TUBB1,ZNF831 chr20 57315735 57315825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 57337561 57337655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 57371816 57371901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5737556 5739401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C20orf196 chr20 574164 10420593 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADAM33,ADRA1D,ANGPT4,ANKRD5,AP5S1,ATRN,AVP,BMP2,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf94,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,DDRGK1,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HAO1,HSPA12B,IDH3B,ITPA,LAMP5,LINC00654,LINC00658,LOC100289473,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MKKS,MRPS26,NOP56,NSFL1C,OXT,PAK7,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PLCB1,PLCB4,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNAP25,SNAP25-AS1,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SPEF1,SRXN1,STK35,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TMX4,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZNF343 chr20 57426284 57849823 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP5E,CTSZ,GNAS,SLMO2,SLMO2-ATP5E,TH1L,TUBB1,ZNF831 chr20 57469069 57469287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAS chr20 57469081 57469272 Gain and loss Pancreatic cancer SNP array 17952125 GNAS chr20 57512907 57540069 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 575270 581890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 575270 581890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 575270 604726 Gain and loss Pancreatic cancer SNP array 17952125 TCF15 chr20 57566501 57588500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTSZ,TH1L chr20 57571080 57571170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTSZ chr20 57585958 57856161 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ATP5E,SLMO2,SLMO2-ATP5E,TUBB1,ZNF831 chr20 57585959 57856161 Gain and loss Pancreatic cancer SNP array 17952125 ATP5E,SLMO2,SLMO2-ATP5E,TUBB1,ZNF831 chr20 57585959 57858898 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP5E,SLMO2,SLMO2-ATP5E,TUBB1,ZNF831 chr20 57585959 57858898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5E,SLMO2,SLMO2-ATP5E,TUBB1,ZNF831 chr20 57585959 57858898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5E,SLMO2,SLMO2-ATP5E,TUBB1,ZNF831 chr20 57588501 57744500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP5E,SLMO2,SLMO2-ATP5E,TUBB1 chr20 57593795 57593880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 57607378 58179581 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP5E,EDN3,PHACTR3,SLMO2,SLMO2-ATP5E,ZNF831 chr20 57609887 57643010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLMO2,SLMO2-ATP5E chr20 5766470 15750809 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD5,BMP2,BTBD3,C20orf196,C20orf94,CHGB,CRLS1,ESF1,FERMT1,FLRT3,HAO1,ISM1,ISM1-AS1,JAG1,LAMP5,LOC339593,LRRN4,MACROD2,MACROD2-AS1,MCM8,MKKS,NDUFAF5,PAK7,PLCB1,PLCB4,SEL1L2,SNAP25,SNAP25-AS1,SPTLC3,TASP1,TMX4,TRMT6 chr20 57671856 57705787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 57683536 57683591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 57729659 57856161 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ZNF831 chr20 57744501 57764000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 57762022 57762114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 57764001 57834500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF831 chr20 57834501 57841500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 57861101 57962300 Copy number Normal ReadDepth: A Parallel R Package 21305028 EDN3 chr20 57861117 57861177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 57872012 57940604 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EDN3 chr20 57872012 57940604 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 EDN3 chr20 57872012 57940604 Gain or loss Breast cancer - 20668451 EDN3 chr20 57872012 57940604 Gain or loss Cancer - 20668451 EDN3 chr20 57872012 57940604 Gain or loss Lung cancer - 20668451 EDN3 chr20 57872012 57940604 Gain or loss Ovarian cancer - 20668451 EDN3 chr20 57872012 57940604 Gain or loss Pancreas cancer - 20668451 EDN3 chr20 57872012 57940604 Gain or loss Prostate cancer - 20668451 EDN3 chr20 57872016 57942105 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EDN3 chr20 57872016 57942105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EDN3 chr20 57872016 57942105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EDN3 chr20 57872444 57942092 Gain and loss Pancreatic cancer SNP array 17952125 EDN3 chr20 57877952 57878022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EDN3 chr20 57879154 57879234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EDN3 chr20 57900000 62435964 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Duplication Splenic marginal zone lymphoma BAC CGH array 21957467 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Gain Breast cancer aCGH 21045282 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Gain Normal Human genome CGH 64k ARRAY PLATFORM 22144094 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Gain Ovarian cancer Affymetrix 20844748 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Loss Colorectal cancer Copy Number Analyzer for Affymertix GeneChip Mapping arrays v2.0,Affymetrix Genotyping Console v2.1 21128281 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Loss Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Microdeletion Congenital abnormalities 250K-feature Nsp Gene-Chip SNP array 20805988 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Microdeletion Developmental delay 250K-feature Nsp Gene-Chip SNP array 20805988 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57900000 62435964 Microdeletion Mental retardation 250K-feature Nsp Gene-Chip SNP array 20805988 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EDN3,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 57925204 57925304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 57934000 61537000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ADRM1,C20orf151,C20orf166,C20orf166-AS1,C20orf197,C20orf20,CABLES2,CDH26,CDH4,COL9A3,DIDO1,DPH3P1,FAM217B,GATA5,GTPBP5,HRH3,LAMA5,LINC00659,LOC100127888,LOC100506384,LOC284757,LSM14B,MIR1-1,MIR1257,MIR133A2,MIR4533,MIR4758,NTSR1,OGFR,OSBPL2,PHACTR3,PPP1R3D,PSMA7,RPS21,SLCO4A1,SS18L1,SYCP2,TAF4,TCFL5 chr20 57936043 58718573 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C20orf197,CDH26,FAM217B,LOC100506384,LOC284757,PHACTR3,PPP1R3D,SYCP2 chr20 57942213 57955956 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 57942214 57955954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 57942214 57957130 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 57942214 57957130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57942214 57957130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57945118 57948747 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 57945118 57948747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57945118 57948747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57945281 57948747 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 57945281 57948747 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 57945281 57948747 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 57945281 57948747 Gain or loss Cancer - 20668451 NOT_FOUND chr20 57945281 57948747 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 57945281 57948747 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 57945281 57948747 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 57945281 57948747 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 57945987 57946065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 57947482 57948381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 57948950 57955956 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 57962301 58518900 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM217B,LOC100506384,PHACTR3,PPP1R3D,SYCP2 chr20 57966876 58042224 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 57966877 58042126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 57966877 58042461 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 57966877 58042461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57966877 58042461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 57986893 57986993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 58057104 58057204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 58064094 58065563 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr20 58064374 58081403 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 58064375 58081403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 58064375 58081403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 58064375 58081403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 58064375 58081403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 58067689 58068150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 58095891 58096031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 58098922 58099808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 58140328 58140428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 58144355 58144455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 58149656 58149705 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 58152191 58171294 Amplification or deletion Cancer Array CGH 17440070 PHACTR3 chr20 58163141 58163190 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 PHACTR3 chr20 58179581 62435964 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC100506384,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4533,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 5818701 5818858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf196 chr20 5818701 5818859 Gain and loss Pancreatic cancer SNP array 17952125 C20orf196 chr20 5818701 5818860 Gain and loss Pancreatic cancer SNP array 17952125 C20orf196 chr20 58198766 58198835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHACTR3 chr20 58288653 58288753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHACTR3 chr20 58315596 58315721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PHACTR3 chr20 58316927 58317020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR3 chr20 58322015 58322115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHACTR3 chr20 58324093 58324193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHACTR3 chr20 58326032 58332992 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PHACTR3 chr20 58326032 58332992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PHACTR3 chr20 58326032 58332992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHACTR3 chr20 5835175 8482355 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BMP2,C20orf196,CHGB,CRLS1,FERMT1,HAO1,LRRN4,MCM8,PLCB1,TMX4,TRMT6 chr20 58360111 58360431 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PHACTR3 chr20 5836553 5836651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf196 chr20 58400000 63025520 Copy number Breast cancer Real-time reverse transcription-PCR 18698023 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 58400000 63025520 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 58400000 63025520 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 58400000 63025520 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 58400000 63025520 Gain Gastric cancer Array CGH 16891809 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 58400000 63025520 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 58400000 63025520 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 58400000 63025520 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf197,C20orf20,C20orf201,CABLES2,CDH26,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FAM217B,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC284757,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4533,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PHACTR3,PPDPF,PPP1R3D,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,SYCP2,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 5840168 5854003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf196 chr20 5840168 5854003 Gain and loss Pancreatic cancer SNP array 17952125 C20orf196 chr20 5840168 5854003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf196 chr20 58422849 58423325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 58438094 58438194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 58455549 58455617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYCP2 chr20 58468743 58468833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYCP2 chr20 58485624 61001796 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ADRM1,C20orf151,C20orf197,CABLES2,CDH26,CDH4,FAM217B,GTPBP5,HRH3,LAMA5,LOC284757,LSM14B,MIR1257,MIR4533,MIR4758,OSBPL2,PPP1R3D,PSMA7,RPS21,SS18L1,SYCP2,TAF4 chr20 58496628 58496728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYCP2 chr20 58518901 59050200 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf197,CDH26,FAM217B,LOC284757 chr20 58551586 58551635 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 CDH26 chr20 5856735 5857678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 58580082 58580182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH26 chr20 58587791 58587891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH26 chr20 5859911 5867010 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr20 58638734 58638834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf197 chr20 5866486 5879173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 5866486 5879173 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 5866486 5879173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 58686169 58686241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 58710226 58710321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 58733903 58733973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284757 chr20 58772642 58772981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC284757 chr20 58772642 58772981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284757 chr20 5877567 5877667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5879298 5923827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHGB,TRMT6 chr20 5879298 5923827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHGB,TRMT6 chr20 5879298 5923829 Gain and loss Pancreatic cancer SNP array 17952125 CHGB,TRMT6 chr20 58836711 58836803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284757 chr20 58850838 58850978 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC284757 chr20 5890988 5891316 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 58926424 58926524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5893184 5893294 Gain and loss Pancreatic cancer SNP array 17952125 CHGB chr20 5893184 5893296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHGB chr20 5893826 5894157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHGB chr20 58950616 59000615 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr20 58960688 58960788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 58992848 59004029 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 58993284 59017558 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 59001922 59002022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59002420 59003765 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 59002420 59023440 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 59002420 59023584 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 59002420 59023990 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr20 59003765 59023478 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 59023478 59023596 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 590241 604823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF15 chr20 590241 604823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF15 chr20 59048001 59064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4533 chr20 59050201 59530900 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4533 chr20 59054409 59054633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 59061440 59061489 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 59064501 59066500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 59064772 59064864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59066501 59109000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 59074507 62317284 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ADRM1,ARFGAP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf20,CABLES2,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PPDPF,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLCO4A1,SRMS,SS18L1,STMN3,TAF4,TCFL5,YTHDF1 chr20 59074507 62317284 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ADRM1,ARFGAP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf20,CABLES2,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PPDPF,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLCO4A1,SRMS,SS18L1,STMN3,TAF4,TCFL5,YTHDF1 chr20 59100794 60260005 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 CDH4 chr20 59109001 59111000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 59111001 59569000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 59126688 59136047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 59186707 59832199 Gain small cell lung cancer Real-time Quantitative PCR 17426248 CDH4 chr20 59216215 59216295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59241454 59334918 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr20 59254871 59254920 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 59260953 59945694 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH4 chr20 59260953 59945694 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 59260965 59945671 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 59260965 59945671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 59260965 59945671 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 59260965 59945671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 5930379 5930674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRMT6 chr20 5930379 5930676 Gain and loss Pancreatic cancer SNP array 17952125 TRMT6 chr20 59313862 59314012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59315183 59348837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 5934877 5966037 Gain and loss Pancreatic cancer SNP array 17952125 MCM8 chr20 5934893 5968695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCM8 chr20 5934893 5968695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM8 chr20 59379831 59379911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59391304 61879921 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADRM1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf20,CABLES2,CDH4,COL9A3,DIDO1,DPH3P1,GATA5,GID8,GTPBP5,HAR1A,HAR1B,HRH3,LAMA5,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PSMA7,RPS21,SLC17A9,SLCO4A1,SS18L1,TAF4,TCFL5,YTHDF1 chr20 59398481 59399328 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr20 59407561 59407882 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 59452758 59455394 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr20 59456751 59788832 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 NOT_FOUND chr20 59467687 59467787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59479898 59479998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59483462 62194881 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 ADRM1,ARFGAP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf20,CABLES2,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GATA5,GID8,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PPDPF,PRIC285,PSMA7,PTK6,RPS21,SLC17A9,SLCO4A1,SRMS,SS18L1,TAF4,TCFL5,YTHDF1 chr20 59500701 59505000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 59502100 60642260 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDH4,MIR1257,TAF4 chr20 59509079 59509179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59530901 62435964 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf20,CABLES2,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR3196,MIR4326,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PPDPF,PRIC285,PSMA7,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,SS18L1,STMN3,TAF4,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 59546452 59547047 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 59550109 59777020 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 NOT_FOUND chr20 59569001 59853000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 59619348 59623829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 59642719 60188470 Amplification Breast cancer FISH 17142309 CDH4 chr20 59650042 59650488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 59652838 59652878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59653644 59653744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59672950 59673060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5969425 5982676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCM8 chr20 5969425 5982676 Gain and loss Pancreatic cancer SNP array 17952125 MCM8 chr20 5969425 5982676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM8 chr20 59717419 59717611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59717591 59717691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59717595 59717782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 5972001 5977600 Deletion Glioma mate-paired sequence 20126413 MCM8 chr20 59724130 59725130 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 59725957 59728199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 59725957 59728199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 59727255 59728255 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 59727302 59727602 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 59732338 59732387 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 5973584 5975501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MCM8 chr20 59740814 59761388 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 59742240 59761388 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 59742240 59763781 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 59752854 59753010 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 59765985 59800675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 59777717 59777787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 59785516 59800328 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr20 59785516 59832199 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 CDH4 chr20 59790401 59794700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 59830009 59830109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 59853001 59949500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 59878250 59878341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 59880520 59880552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 59880557 59880857 Gain Osteosarcoma References 21215367 CDH4 chr20 59880825 59881825 Gain Osteosarcoma References 21215367 CDH4 chr20 59894657 60016638 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH4 chr20 59894657 60016638 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH4 chr20 59913594 59913694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 59913625 59913725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 59919121 59919221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 59936789 59973285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH4 chr20 59937699 59981429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH4 chr20 59938340 59938434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 59944585 60058583 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 CDH4 chr20 59949501 59962500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 59959684 59959988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH4 chr20 59961997 59962113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 5996212 5996412 Gain and loss Pancreatic cancer SNP array 17952125 CRLS1 chr20 59962501 60056500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 59973899 59973993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 59983248 60074261 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CDH4 chr20 59983248 60074261 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH4 chr20 59983248 60074261 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 59983250 60074261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 59983250 60074261 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 59983250 60074261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 59983620 59983669 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 CDH4 chr20 59986785 59986882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60004020 60004338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH4 chr20 6003491 6052191 Loss Kindler syndrome Nested PCR 22466645 CRLS1,LRRN4 chr20 6003493 6052191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRLS1,LRRN4 chr20 6003493 6052191 Gain and loss Pancreatic cancer SNP array 17952125 CRLS1,LRRN4 chr20 6003493 6052191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRLS1,LRRN4 chr20 60045880 60046407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60056501 60064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60064501 60155500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60064701 60068800 Deletion Glioma mate-paired sequence 20126413 CDH4 chr20 60113673 60176588 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 CDH4 chr20 60130912 60142908 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60130912 60143829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60130912 60143829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60143202 60143471 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60143246 60143821 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60145185 60151869 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH4 chr20 60145186 60151869 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60145186 60151881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60145186 60151881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60146156 60177923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH4 chr20 60150285 60150385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60152216 60190961 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH4 chr20 60152216 60190961 Gain or loss Breast cancer - 20668451 CDH4 chr20 60152216 60190961 Gain or loss Cancer - 20668451 CDH4 chr20 60152216 60190961 Gain or loss Lung cancer - 20668451 CDH4 chr20 60152216 60190961 Gain or loss Ovarian cancer - 20668451 CDH4 chr20 60152216 60190961 Gain or loss Pancreas cancer - 20668451 CDH4 chr20 60152216 60190961 Gain or loss Prostate cancer - 20668451 CDH4 chr20 60152217 60190958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60152217 60190958 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60152217 60190958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60155501 60158000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60158001 60209500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 6015982 6016179 Gain and loss Pancreatic cancer SNP array 17952125 CRLS1 chr20 6015982 6016179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRLS1 chr20 60191475 60211205 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH4 chr20 60191475 60211205 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60191476 60211203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60191476 60211203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60191496 60211203 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60199060 60199150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60200127 60200220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60208575 60208675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60209501 60244500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60212496 60975514 Copy number Lung cancer paired-end sequencing 18438408 ADRM1,CABLES2,CDH4,GTPBP5,HRH3,LAMA5,LSM14B,MIR1257,MIR4758,OSBPL2,PSMA7,RPS21,SS18L1,TAF4 chr20 60215571 60215671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60223420 60228707 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60223422 60228718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60223422 60228718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60223830 60228709 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 6023977 6036281 Deletion Kindler syndrome Quantitative real-time PCR 16675959 LRRN4 chr20 60240411 60244750 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60240411 60244750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60240411 60244750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60244501 60312000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60246974 60304664 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CDH4 chr20 60246974 60304664 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH4 chr20 60246974 60304664 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60246975 60304664 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60246975 60304664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60246975 60304664 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60246975 60304664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60256737 60257737 Loss Osteosarcoma References 21215367 CDH4 chr20 60306354 60328510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDH4 chr20 60311421 60317313 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH4 chr20 60311421 60317313 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60311422 60317311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60311422 60317311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60311422 60317311 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60311422 60317311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60312001 60347000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60316831 60316880 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 CDH4 chr20 60317515 60375763 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60317516 60375763 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60317516 60375763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60317516 60375763 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60317516 60375763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60325955 60326009 Gain Autism 1M Ailent CGH whole-genome array 21865298 CDH4 chr20 60347001 60358500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60358501 60387000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60365883 60365961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60366035 60366129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 6036819 6036939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 60382853 60383215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60385680 60385770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60387001 60399500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60390741 60390768 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 CDH4 chr20 60395500 60396971 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60395500 60396971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60395500 60396971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60395515 60396971 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CDH4 chr20 60395515 60396971 Amplification Normal BAC aCGH 22315515 CDH4 chr20 60395515 60396971 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60395515 60396971 Indels Normal Affymetrix 6.0 array 21223598 CDH4 chr20 60395516 60396971 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 CDH4 chr20 60395555 60396970 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60397080 60415734 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 CDH4 chr20 60397080 60415734 Amplification Normal BAC aCGH 22315515 CDH4 chr20 60397080 60415734 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60397081 60415734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60397081 60415734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60397083 60415727 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60397087 60415728 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60399501 60439000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60418687 60435984 Amplification Normal BAC aCGH 22315515 CDH4 chr20 60418687 60435984 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60418688 60435984 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60418688 60435984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60418688 60435984 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60418688 60435984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 6042402 6042437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 60439001 60461000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4 chr20 60440000 62960000 Gain Breast cancer aCGH 21509527 ABHD16B,ADRM1,ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf20,C20orf201,CABLES2,CDH4,CHRNA4,COL20A1,COL9A3,DIDO1,DNAJC5,DPH3P1,EEF1A2,FLJ16779,GATA5,GID8,GMEB2,GTPBP5,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LIME1,LINC00029,LINC00176,LINC00266-1,LINC00659,LOC100127888,LOC100144597,LOC63930,LSM14B,MIR1-1,MIR124-3,MIR1257,MIR133A2,MIR1914,MIR3196,MIR4326,MIR4758,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NKAIN4,NPBWR2,NTSR1,OGFR,OPRL1,OSBPL2,PCMTD2,PPDPF,PRIC285,PRPF6,PSMA7,PTK6,RGS19,RPS21,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC17A9,SLC2A4RG,SLCO4A1,SOX18,SRMS,SS18L1,STMN3,TAF4,TCEA2,TCFL5,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,YTHDF1,ZBTB46,ZGPAT,ZNF512B chr20 60456583 60456682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60461001 60578000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDH4,MIR1257,TAF4 chr20 60464834 60524832 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH4 chr20 60464834 60583327 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH4,MIR1257,TAF4 chr20 60464834 60870369 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDH4,GTPBP5,HRH3,LSM14B,MIR1257,OSBPL2,PSMA7,SS18L1,TAF4 chr20 60464834 60897084 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADRM1,CDH4,GTPBP5,HRH3,LAMA5,LSM14B,MIR1257,OSBPL2,PSMA7,SS18L1,TAF4 chr20 60471947 60484421 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 CDH4 chr20 60471948 60484421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDH4 chr20 60471948 60484421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60471948 60484421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDH4 chr20 60471949 60484421 Gain and loss Pancreatic cancer SNP array 17952125 CDH4 chr20 60476294 60476567 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDH4 chr20 60505137 60505227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDH4 chr20 60551999 60559176 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TAF4 chr20 60552000 60559178 Gain and loss Pancreatic cancer SNP array 17952125 TAF4 chr20 60552199 60559176 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF4 chr20 60552199 60559176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF4 chr20 60552199 60559176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF4 chr20 60558104 60578409 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 TAF4 chr20 60558105 60578409 Gain and loss Pancreatic cancer SNP array 17952125 TAF4 chr20 60558105 60578416 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF4 chr20 60558105 60578416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF4 chr20 60560876 60560976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAF4 chr20 60561955 60562031 Gain and loss Pancreatic cancer SNP array 17952125 TAF4 chr20 60561955 60562031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF4 chr20 60562628 60562677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAF4 chr20 60572564 60572665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF4 chr20 60578001 60911000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADRM1,GTPBP5,HRH3,LAMA5,LSM14B,MIR4758,OSBPL2,PSMA7,SS18L1,TAF4 chr20 60580323 60581036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF4 chr20 60583249 60584965 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF4 chr20 60602412 60602512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAF4 chr20 60606433 60606487 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 TAF4 chr20 60627043 60627124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAF4 chr20 6070701 6586016 LOH Normal High-resolution SNP genotyping 21211785 FERMT1 chr20 60733815 60897084 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ADRM1,GTPBP5,HRH3,LAMA5,OSBPL2,SS18L1 chr20 60742516 60745093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SS18L1 chr20 60742516 60745093 Gain and loss Pancreatic cancer SNP array 17952125 SS18L1 chr20 60742516 60745093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SS18L1 chr20 60744241 60774092 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 GTPBP5,SS18L1 chr20 60744242 60774092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTPBP5,SS18L1 chr20 60744242 60774092 Gain and loss Pancreatic cancer SNP array 17952125 GTPBP5,SS18L1 chr20 60744242 60774092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTPBP5,SS18L1 chr20 60756981 60757036 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SS18L1 chr20 60756981 60757092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SS18L1 chr20 60764832 60768418 Gain and loss Pancreatic cancer SNP array 17952125 GTPBP5 chr20 60774613 60775623 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GTPBP5 chr20 60774696 60775584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GTPBP5 chr20 60777930 60778030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 60784567 60816744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HRH3,OSBPL2 chr20 60787319 62306895 Amplification Breast cancer FISH 17142309 ADRM1,ARFGAP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf20,CABLES2,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GATA5,GID8,GMEB2,HAR1A,HAR1B,HRH3,KCNQ2,LAMA5,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,MIR1-1,MIR124-3,MIR133A2,MIR3196,MIR4326,MIR4758,NKAIN4,NTSR1,OGFR,OSBPL2,PPDPF,PRIC285,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLCO4A1,SRMS,STMN3,TCFL5,YTHDF1 chr20 60796820 60802277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 60798071 60807735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 60808038 60808116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 60810633 60864568 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 OSBPL2 chr20 60810633 60864568 Gain or loss Breast cancer - 20668451 OSBPL2 chr20 60810633 60864568 Gain or loss Cancer - 20668451 OSBPL2 chr20 60810633 60864568 Gain or loss Lung cancer - 20668451 OSBPL2 chr20 60810633 60864568 Gain or loss Ovarian cancer - 20668451 OSBPL2 chr20 60810633 60864568 Gain or loss Pancreas cancer - 20668451 OSBPL2 chr20 60810633 60864568 Gain or loss Prostate cancer - 20668451 OSBPL2 chr20 60810634 60864567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBPL2 chr20 60810634 60864567 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL2 chr20 60810634 60864567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL2 chr20 60843069 60845216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OSBPL2 chr20 60852771 60852871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL2 chr20 6087846 6087936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FERMT1 chr20 60878806 60878879 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 ADRM1 chr20 60885828 60885916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMA5 chr20 60886910 60886979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LAMA5 chr20 60898249 60902388 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LAMA5 chr20 60898250 60902376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMA5 chr20 60898250 60902376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMA5 chr20 60898250 60902388 Gain and loss Pancreatic cancer SNP array 17952125 LAMA5 chr20 60898282 60902390 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 LAMA5 chr20 60898282 60902390 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LAMA5 chr20 60906621 60915797 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LAMA5,MIR4758 chr20 60906622 60915797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMA5,MIR4758 chr20 60906622 60915797 Gain and loss Pancreatic cancer SNP array 17952125 LAMA5,MIR4758 chr20 60906622 60915797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMA5,MIR4758 chr20 6090695 24282120 Loss Prostate cancer Array CGH 18632612 ANKRD5,BANF2,BFSP1,BMP2,BTBD3,C20orf26,C20orf72,C20orf78,C20orf79,C20orf94,CD93,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST8,CST9,CST9L,CSTL1,DSTN,DTD1,DZANK1,DZANK1-AS1,ESF1,FERMT1,FLJ33581,FLRT3,FOXA2,GGTLC1,GZF1,HAO1,INSM1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00656,LOC100130264,LOC100270679,LOC100270804,LOC284788,LOC339593,MACROD2,MACROD2-AS1,MIR3192,MKKS,NAA20,NAPB,NDUFAF5,NKX2-2,NKX2-4,NXT1,OTOR,OVOL2,PAK7,PAX1,PCSK2,PET117,PLCB1,PLCB4,PLK1S1,POLR3F,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SEL1L2,SLC24A3,SNAP25,SNAP25-AS1,SNORD17,SNRPB2,SNX5,SPTLC3,SSTR4,TASP1,THBD,TMX4,XRN2,ZNF133 chr20 60911001 60933500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAMA5 chr20 60918832 60942955 Gain and loss Pancreatic cancer SNP array 17952125 LAMA5 chr20 60918858 60942956 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LAMA5 chr20 60918858 60942956 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LAMA5 chr20 60918859 60942956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMA5 chr20 60918859 60942956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMA5 chr20 60932443 60932580 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LAMA5 chr20 60933501 61053500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf151,CABLES2,GATA5,LAMA5,RPS21 chr20 60942911 60963560 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 RPS21 chr20 60942913 60963560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPS21 chr20 60942913 60963560 Gain and loss Pancreatic cancer SNP array 17952125 RPS21 chr20 60942913 60963560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPS21 chr20 60947461 60947697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 60947461 60947709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 60948657 61220552 Gain Normal - 20841430 C20orf151,C20orf166,C20orf166-AS1,CABLES2,GATA5,MIR1-1,MIR133A2,RPS21 chr20 60955804 62435964 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf151,C20orf166,C20orf166-AS1,C20orf195,C20orf20,CABLES2,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GATA5,GID8,GMEB2,HAR1A,HAR1B,KCNQ2,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,MIR1-1,MIR124-3,MIR133A2,MIR3196,MIR4326,NKAIN4,NTSR1,OGFR,PPDPF,PRIC285,PTK6,RPS21,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,STMN3,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 60960461 60960639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 60974047 60974873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CABLES2 chr20 60979534 61039719 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf151,CABLES2,GATA5 chr20 60979535 61039719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf151,CABLES2,GATA5 chr20 60979535 61039719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf151,CABLES2,GATA5 chr20 60981030 60982466 Gain and loss Pancreatic cancer SNP array 17952125 CABLES2 chr20 6098946 6099277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FERMT1 chr20 60990371 61046791 Copy number Lung cancer paired-end sequencing 18438408 C20orf151,GATA5 chr20 60991659 61035065 Loss Normal 244K array 17666407 C20orf151 chr20 60992728 61039898 Gain and loss Pancreatic cancer SNP array 17952125 C20orf151,GATA5 chr20 60998744 60998779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf151 chr20 61002079 61428260 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 C20orf151,C20orf166,C20orf166-AS1,C20orf20,GATA5,LINC00659,LOC100127888,MIR1-1,MIR133A2,NTSR1,SLCO4A1 chr20 61010788 62435964 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf166,C20orf166-AS1,C20orf195,C20orf20,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GATA5,GID8,GMEB2,HAR1A,HAR1B,KCNQ2,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,MIR1-1,MIR124-3,MIR133A2,MIR3196,MIR4326,NKAIN4,NTSR1,OGFR,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,STMN3,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 61039885 61050272 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 GATA5 chr20 61039885 61050272 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 GATA5 chr20 61039886 61050268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATA5 chr20 61039886 61050268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATA5 chr20 61039886 61050270 Gain and loss Pancreatic cancer SNP array 17952125 GATA5 chr20 61053501 61082000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61054443 61070394 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 61054443 61070394 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 61054444 61070386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61054444 61070386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61054501 61070386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61056151 61070635 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr20 61056624 61076763 Loss Autism - 20841430 NOT_FOUND chr20 61061385 61061515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61061491 62435964 Copy number Lung cancer paired-end sequencing 18438408 ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf166,C20orf166-AS1,C20orf195,C20orf20,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GID8,GMEB2,HAR1A,HAR1B,KCNQ2,LIME1,LINC00029,LINC00659,LOC100127888,LOC100144597,LOC63930,MIR1-1,MIR124-3,MIR133A2,MIR3196,MIR4326,NKAIN4,NTSR1,OGFR,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SLCO4A1,SRMS,STMN3,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 61062785 61063144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61077718 61077967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61082001 61262000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf166,C20orf166-AS1,MIR1-1,MIR133A2 chr20 61093990 61095686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61107724 61108527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61107724 61108527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61107845 61108787 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 61107846 61108523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61111180 61182290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf166,C20orf166-AS1,MIR1-1,MIR133A2 chr20 61136015 61138825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61136015 61138825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61136382 61138825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61160156 61505547 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 C20orf166,C20orf20,COL9A3,DPH3P1,LINC00659,LOC100127888,MIR133A2,NTSR1,OGFR,SLCO4A1,TCFL5 chr20 61165585 61177428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C20orf166 chr20 61187317 61187486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61193101 61198000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 61193126 61193191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61195143 61196040 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61195187 61195962 Loss Normal 244K array 17666407 NOT_FOUND chr20 61195302 61195978 Deletion Normal - 21790672 NOT_FOUND chr20 61197289 61204116 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 61197718 61205825 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61203088 61206182 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 61236769 61237351 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr20 61252776 61253776 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 61255441 61272310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61261148 61276259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLCO4A1 chr20 61262001 61293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLCO4A1 chr20 61264841 61270887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61280297 61280383 Gain and loss Pancreatic cancer SNP array 17952125 SLCO4A1 chr20 61280297 61280383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO4A1 chr20 6128953 6130838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61290979 61291574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLCO4A1 chr20 61293501 61318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100127888,SLCO4A1 chr20 6129636 6130838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61297226 61317983 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 LOC100127888,SLCO4A1 chr20 61297226 61317983 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LOC100127888,SLCO4A1 chr20 61297228 61317983 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LOC100127888,SLCO4A1 chr20 61297229 61317983 Gain and loss Pancreatic cancer SNP array 17952125 LOC100127888,SLCO4A1 chr20 61297229 61318031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100127888,SLCO4A1 chr20 61297229 61318031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100127888,SLCO4A1 chr20 6129763 6702922 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 61298057 61298157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO4A1 chr20 61318001 61326500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61323074 61349395 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NTSR1 chr20 61323074 61370750 Loss Autism - 20841430 NTSR1 chr20 61326501 61336500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61329497 62435964 Amplification Cancer Affymetrix 250K Sty array 20164920 ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf195,C20orf20,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GID8,GMEB2,HAR1A,HAR1B,KCNQ2,LIME1,LINC00029,LINC00659,LOC100144597,LOC63930,MIR124-3,MIR3196,MIR4326,NKAIN4,NTSR1,OGFR,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SRMS,STMN3,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 61330925 61330992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61336501 61357000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTSR1 chr20 61337248 61374491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTSR1 chr20 61337248 61374491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTSR1 chr20 61337680 61342291 Gain and loss Pancreatic cancer SNP array 17952125 NTSR1 chr20 61337680 61342292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTSR1 chr20 61337680 61342292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTSR1 chr20 61337720 61342299 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NTSR1 chr20 61337720 61342299 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NTSR1 chr20 61337720 61342299 Gain or loss Breast cancer - 20668451 NTSR1 chr20 61337720 61342299 Gain or loss Cancer - 20668451 NTSR1 chr20 61337720 61342299 Gain or loss Lung cancer - 20668451 NTSR1 chr20 61337720 61342299 Gain or loss Ovarian cancer - 20668451 NTSR1 chr20 61337720 61342299 Gain or loss Pancreas cancer - 20668451 NTSR1 chr20 61337720 61342299 Gain or loss Prostate cancer - 20668451 NTSR1 chr20 61337899 61349395 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NTSR1 chr20 61339561 61384312 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NTSR1 chr20 61342581 61356337 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NTSR1 chr20 61342583 61356335 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NTSR1 chr20 61342584 61356335 Gain and loss Pancreatic cancer SNP array 17952125 NTSR1 chr20 61352357 61352413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NTSR1 chr20 61354259 61358066 Loss Normal 244K array 17666407 NTSR1 chr20 61355774 61363408 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NTSR1 chr20 61357001 61390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTSR1 chr20 61366832 61366866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NTSR1 chr20 61374609 61391587 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NTSR1 chr20 61374610 61391587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NTSR1 chr20 61374610 61391587 Gain and loss Pancreatic cancer SNP array 17952125 NTSR1 chr20 61374610 61391587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NTSR1 chr20 61390501 61400000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NTSR1 chr20 61394982 61432729 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C20orf20,LINC00659 chr20 61394982 61432729 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf20,LINC00659 chr20 61394983 61432728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf20,LINC00659 chr20 61394983 61432728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf20,LINC00659 chr20 61394983 61436593 Gain and loss Pancreatic cancer SNP array 17952125 C20orf20,LINC00659,OGFR chr20 61400001 61408500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00659 chr20 61408501 61424500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61411961 62435964 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf195,C20orf20,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GID8,GMEB2,HAR1A,HAR1B,KCNQ2,LIME1,LINC00029,LOC100144597,LOC63930,MIR124-3,MIR3196,MIR4326,NKAIN4,OGFR,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SRMS,STMN3,TCFL5,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT chr20 61421878 61440743 Amplification Breast cancer Array CGH 17440070 C20orf20,OGFR chr20 61421878 61440743 Deletion Cancer Array CGH 17440070 C20orf20,OGFR chr20 6142346 6144028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61424501 61436000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf20 chr20 61430820 61724264 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 BHLHE23,C20orf20,COL9A3,DIDO1,DPH3P1,GID8,LINC00029,LOC100144597,LOC63930,OGFR,SLC17A9,TCFL5 chr20 61436001 61445000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OGFR chr20 61439135 61439245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OGFR chr20 61439147 61439220 Gain and loss Pancreatic cancer SNP array 17952125 OGFR chr20 61439147 61439220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OGFR chr20 61445001 61477000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL9A3,DPH3P1,OGFR,TCFL5 chr20 61445108 61479933 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 COL9A3,DPH3P1,OGFR,TCFL5 chr20 61445108 61479933 Deletion Benign familial neonatal-infantile seizures MLPA and FISH 19822871 COL9A3,DPH3P1,OGFR,TCFL5 chr20 61445109 61463192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL9A3,OGFR chr20 61445109 61463192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL9A3,OGFR chr20 61446465 61463192 Gain and loss Pancreatic cancer SNP array 17952125 COL9A3 chr20 61455727 61455727 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 COL9A3 chr20 61461784 61472973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL9A3,TCFL5 chr20 61477001 61486500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPH3P1,TCFL5 chr20 61486501 61495000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TCFL5 chr20 61494428 61494523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61495001 61595000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIDO1,GID8,SLC17A9 chr20 61497274 61497672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61502012 61574437 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 DIDO1,GID8 chr20 61502012 61574437 Deletion Benign familial neonatal-infantile seizures MLPA and FISH 19822871 DIDO1,GID8 chr20 61502013 61574437 Gain and loss Pancreatic cancer SNP array 17952125 DIDO1,GID8 chr20 61507986 61574437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIDO1,GID8 chr20 61507986 61574437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIDO1,GID8 chr20 61510985 61511049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIDO1 chr20 61535475 61574437 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DIDO1,GID8 chr20 61535478 61559832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIDO1 chr20 61537798 61542083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIDO1 chr20 61542193 61576411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIDO1,GID8 chr20 61557663 61557970 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 DIDO1 chr20 61572793 61846811 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BHLHE23,GID8,HAR1A,HAR1B,LINC00029,LOC100144597,LOC63930,MIR124-3,SLC17A9,YTHDF1 chr20 6157441 6157595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61588512 61668792 Gain Autism - 20841430 BHLHE23,LINC00029,LOC63930,SLC17A9 chr20 61589809 61600949 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 SLC17A9 chr20 61589809 61600949 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SLC17A9 chr20 61589810 61600949 Gain and loss Pancreatic cancer SNP array 17952125 SLC17A9 chr20 61589810 61601081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC17A9 chr20 61589810 61601081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC17A9 chr20 61590410 61622436 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC17A9 chr20 61595001 61605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC17A9 chr20 61605501 61619500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61609566 61609687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61610077 61610162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61619501 61625500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61622562 61623967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61622562 61623967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61622577 61623967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61630219 61639151 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 BHLHE23 chr20 61630222 61639151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BHLHE23 chr20 61630222 61639151 Gain and loss Pancreatic cancer SNP array 17952125 BHLHE23 chr20 61630222 61639151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BHLHE23 chr20 61631001 61675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BHLHE23,LINC00029,LOC100144597,LOC63930 chr20 61642607 61649301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC63930 chr20 61642607 61649301 Gain and loss Pancreatic cancer SNP array 17952125 LOC63930 chr20 61642607 61649301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC63930 chr20 61654817 61658477 Gain and loss Pancreatic cancer SNP array 17952125 LOC63930 chr20 61654817 61658505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC63930 chr20 61654817 61658505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC63930 chr20 61659883 61674182 Gain and loss Pancreatic cancer SNP array 17952125 LINC00029,LOC100144597,LOC63930 chr20 61659883 61676036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00029,LOC100144597,LOC63930 chr20 61659883 61676036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00029,LOC100144597,LOC63930 chr20 61675501 61764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HAR1A,HAR1B,LOC100144597,LOC63930 chr20 61685172 61846811 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HAR1A,HAR1B,LOC100144597,LOC63930,MIR124-3,YTHDF1 chr20 61685172 61846811 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HAR1A,HAR1B,LOC100144597,LOC63930,MIR124-3,YTHDF1 chr20 61689398 61728825 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 HAR1B,LOC63930 chr20 61689399 61721673 Gain and loss Pancreatic cancer SNP array 17952125 LOC63930 chr20 61689399 61728838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAR1B,LOC63930 chr20 61689399 61728838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAR1B,LOC63930 chr20 61713558 61713637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC63930 chr20 61722085 61722177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61727440 62281782 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ARFGAP1,BIRC7,C20orf195,CHRNA4,COL20A1,EEF1A2,FLJ16779,GMEB2,HAR1A,HAR1B,KCNQ2,MIR124-3,MIR3196,MIR4326,NKAIN4,PPDPF,PRIC285,PTK6,SRMS,STMN3,YTHDF1 chr20 61727753 62175139 Gain Bladder cancer array-CGH 21909424 ARFGAP1,BIRC7,CHRNA4,COL20A1,EEF1A2,FLJ16779,HAR1A,HAR1B,KCNQ2,MIR124-3,MIR3196,MIR4326,NKAIN4,PPDPF,PTK6,SRMS,YTHDF1 chr20 61736301 61739900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 61738318 61738418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61741504 61755224 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 61741505 61755224 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61741505 61755224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61741523 61755226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61741523 61755226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61759607 61800495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61759607 61800495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61760090 61798045 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 61760091 61800495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61764501 61767500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61767501 61780000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61769801 61769901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61777021 61798147 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61779495 61779690 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61780001 61785000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61784645 61791547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61785001 61787000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61785585 61798419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61785957 61796643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61787001 61806500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 61787861 61796503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61789927 61796483 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 61793947 61794047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61796992 61797072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 6179883 6962445 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BMP2 chr20 61800439 61809799 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 61800447 61809809 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61801253 61809809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61801253 61809809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61806501 61811500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR124-3 chr20 61808740 61808809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61809831 61837938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR124-3,YTHDF1 chr20 61809831 61837938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR124-3,YTHDF1 chr20 61809835 61840900 Gain and loss Pancreatic cancer SNP array 17952125 MIR124-3,YTHDF1 chr20 61820069 61900682 Gain Normal Birdsuite, version 1.5.2 22087296 BIRC7,FLJ16779,MIR3196,NKAIN4,YTHDF1 chr20 61821010 61821042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 61835001 61845000 Copy number Normal ReadDepth: A Parallel R Package 21305028 YTHDF1 chr20 61838421 61840904 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 YTHDF1 chr20 61838422 61840903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YTHDF1 chr20 61838422 61840903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YTHDF1 chr20 61841655 61845846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YTHDF1 chr20 61841655 61845846 Gain and loss Pancreatic cancer SNP array 17952125 YTHDF1 chr20 61841655 61845846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YTHDF1 chr20 61845001 62044500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARFGAP1,BIRC7,CHRNA4,COL20A1,FLJ16779,KCNQ2,MIR3196,MIR4326,NKAIN4,YTHDF1 chr20 61845463 61933041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARFGAP1,BIRC7,COL20A1,FLJ16779,MIR3196,MIR4326,NKAIN4,YTHDF1 chr20 61845463 61933041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARFGAP1,BIRC7,COL20A1,FLJ16779,MIR3196,MIR4326,NKAIN4,YTHDF1 chr20 61846322 61933041 Gain and loss Pancreatic cancer SNP array 17952125 ARFGAP1,BIRC7,COL20A1,FLJ16779,MIR3196,MIR4326,NKAIN4,YTHDF1 chr20 61862428 61862968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 61872735 61872811 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NKAIN4 chr20 61878799 61878888 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NKAIN4 chr20 61914684 61914784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARFGAP1 chr20 61915542 61915629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARFGAP1 chr20 61917603 61918195 Gain and loss Pancreatic cancer SNP array 17952125 ARFGAP1,MIR4326 chr20 61917703 61917795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARFGAP1 chr20 61937871 61938154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL20A1 chr20 61945223 61945717 Gain and loss Pancreatic cancer SNP array 17952125 COL20A1 chr20 61947003 62426597 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ARFRP1,C20orf195,CHRNA4,COL20A1,EEF1A2,GMEB2,KCNQ2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 61959531 61993332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRNA4,COL20A1 chr20 61959531 61993332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRNA4,COL20A1 chr20 61963009 61964785 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 61963013 61966090 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61963295 61964785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61963295 61964785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61963323 61963661 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 61967034 61993332 Gain and loss Pancreatic cancer SNP array 17952125 CHRNA4 chr20 61994544 62376958 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARFRP1,C20orf195,EEF1A2,GMEB2,KCNQ2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 61996962 62035838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61996962 62035838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 61996962 62035841 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 62010752 62010914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 62010752 62010916 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 62010752 62010916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62021177 62021267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62021289 62021379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62021401 62021491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62021540 62021630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62021652 62021742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62021820 62021910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62029299 62029384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 62041631 62058212 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KCNQ2 chr20 62041635 62058212 Gain and loss Pancreatic cancer SNP array 17952125 KCNQ2 chr20 62041637 62058213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNQ2 chr20 62041637 62058213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ2 chr20 62043262 62043341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ2 chr20 62044428 62044523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ2 chr20 62044501 62071000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNQ2 chr20 62055451 62055939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ2 chr20 62058498 62071662 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KCNQ2 chr20 62058499 62140382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEF1A2,KCNQ2 chr20 62058499 62140382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF1A2,KCNQ2 chr20 62058499 62173380 Gain and loss Pancreatic cancer SNP array 17952125 EEF1A2,KCNQ2,PPDPF,PTK6,SRMS chr20 62062323 62062409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ2 chr20 62065001 62069500 Deletion Glioma mate-paired sequence 20126413 KCNQ2 chr20 62066634 62067910 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 KCNQ2 chr20 62071001 62079000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNQ2 chr20 62071020 62072168 Loss Autism 1M Ailent CGH whole-genome array 21865298 KCNQ2 chr20 62075910 62081439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNQ2 chr20 62075910 62081439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNQ2 chr20 62075912 62081436 Gain and loss Pancreatic cancer SNP array 17952125 KCNQ2 chr20 62079001 62083500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNQ2 chr20 62081803 62081897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNQ2 chr20 62082874 62134897 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EEF1A2,KCNQ2 chr20 62082875 62134893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEF1A2,KCNQ2 chr20 62082875 62134893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF1A2,KCNQ2 chr20 62082901 62134895 Gain and loss Pancreatic cancer SNP array 17952125 EEF1A2,KCNQ2 chr20 62083501 62127500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EEF1A2,KCNQ2 chr20 62108666 62284575 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C20orf195,EEF1A2,GMEB2,PPDPF,PRIC285,PTK6,SRMS,STMN3 chr20 62108666 62284575 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C20orf195,EEF1A2,GMEB2,PPDPF,PRIC285,PTK6,SRMS,STMN3 chr20 62108666 62376639 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARFRP1,C20orf195,EEF1A2,GMEB2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 62108666 62376639 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARFRP1,C20orf195,EEF1A2,GMEB2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 62108666 62435964 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ARFRP1,C20orf195,EEF1A2,GMEB2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 62108666 62435964 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARFRP1,C20orf195,EEF1A2,GMEB2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 62127501 62222500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C20orf195,EEF1A2,GMEB2,PPDPF,PRIC285,PTK6,SRMS chr20 62136140 62141758 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr20 62139937 62141575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62139937 62141575 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 62139937 62141575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62149525 62151423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62149525 62151423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62158618 62174144 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 PTK6,SRMS chr20 62158883 62175758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTK6,SRMS chr20 62158883 62175758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTK6,SRMS chr20 62163353 62435964 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARFRP1,C20orf195,GMEB2,LIME1,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 62164453 62174144 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PTK6,SRMS chr20 62164454 62174143 Gain and loss Pancreatic cancer SNP array 17952125 PTK6,SRMS chr20 62174978 62181768 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SRMS chr20 62174978 62181768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRMS chr20 62174978 62181768 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 SRMS chr20 62174978 62181768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRMS chr20 62174981 62181683 Gain and loss Pancreatic cancer SNP array 17952125 SRMS chr20 62181931 62202440 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C20orf195,PRIC285 chr20 62181931 62202440 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf195,PRIC285 chr20 62181932 62215047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf195,PRIC285 chr20 62181932 62215047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf195,PRIC285 chr20 62181932 62221647 Gain and loss Pancreatic cancer SNP array 17952125 C20orf195,GMEB2,PRIC285 chr20 62184800 62184889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C20orf195 chr20 62185176 62186156 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 C20orf195 chr20 62185177 62186156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C20orf195 chr20 62185177 62186156 Gain and loss Pancreatic cancer SNP array 17952125 C20orf195 chr20 62185177 62186156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C20orf195 chr20 62207617 62208968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62207617 62208968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 62207626 62208628 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr20 62207627 62208628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 62222501 62349500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARFRP1,GMEB2,RTEL1,RTEL1-TNFRSF6B,STMN3,TNFRSF6B,ZGPAT chr20 62226203 62260177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GMEB2 chr20 62234272 62235717 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 GMEB2 chr20 62246579 62376958 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 ARFRP1,GMEB2,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 62253587 62344050 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 ARFRP1,GMEB2,RTEL1,RTEL1-TNFRSF6B,STMN3,TNFRSF6B,ZGPAT chr20 62253588 62377837 Gain and loss Pancreatic cancer SNP array 17952125 ARFRP1,GMEB2,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,STMN3,TNFRSF6B,ZBTB46,ZGPAT chr20 62260025 62260121 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 62266271 62344048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARFRP1,RTEL1,RTEL1-TNFRSF6B,STMN3,TNFRSF6B,ZGPAT chr20 62266271 62344048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARFRP1,RTEL1,RTEL1-TNFRSF6B,STMN3,TNFRSF6B,ZGPAT chr20 62273049 62364050 Gain Stenocardia MACArray Karyo 90K BAC-chips 21860640 ARFRP1,RTEL1,RTEL1-TNFRSF6B,STMN3,TNFRSF6B,ZGPAT chr20 62273049 62364050 Gain Vasospasm MACArray Karyo 90K BAC-chips 21860640 ARFRP1,RTEL1,RTEL1-TNFRSF6B,STMN3,TNFRSF6B,ZGPAT chr20 62283036 62283136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STMN3 chr20 62290178 62374173 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 ARFRP1,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,TNFRSF6B,ZGPAT chr20 62298377 62376958 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ARFRP1,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,TNFRSF6B,ZBTB46,ZGPAT chr20 62302138 62306628 Indels Normal Affymetrix and Illumina arrays 20811451 RTEL1,RTEL1-TNFRSF6B chr20 62317117 62317217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTEL1,RTEL1-TNFRSF6B chr20 62322626 62322741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RTEL1,RTEL1-TNFRSF6B chr20 62336374 62338320 Gain and loss Pancreatic cancer SNP array 17952125 ARFRP1 chr20 62349501 62435964 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIME1,SLC2A4RG,ZBTB46,ZGPAT chr20 62357491 62378023 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LIME1,SLC2A4RG,ZBTB46,ZGPAT chr20 62357492 62389618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIME1,SLC2A4RG,ZBTB46,ZGPAT chr20 62357492 62389618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIME1,SLC2A4RG,ZBTB46,ZGPAT chr20 62357565 62377837 Amplification T-cell lymphomas Array-CGH 22341440 LIME1,SLC2A4RG,ZBTB46,ZGPAT chr20 62365875 62365966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZGPAT chr20 62369937 62374001 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIME1,SLC2A4RG chr20 62372517 62373272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC2A4RG chr20 62379468 62379532 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZBTB46 chr20 62379468 62379534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZBTB46 chr20 62386501 62426584 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ZBTB46 chr20 62391984 62394795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB46 chr20 62392182 62405151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB46 chr20 62425139 62426597 Loss Normal Birdsuite, version 1.5.2 22087296 ZBTB46 chr20 6255915 6260181 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 6257907 6257981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 62609489 62435964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr20 62711487 62731991 Amplification Melanoma MLPA assay 21693616 C20orf201,OPRL1 chr20 62831391 62435964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr20 62844170 62435964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr20 62860701 62435964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr20 62900818 62435964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr20 62901703 62435964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr20 6345170 6386484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 638404 638496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 6389858 6423534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 642894 1491066 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANGPT4,C20orf202,FAM110A,FKBP1A,FKBP1A-SDCBP2,NSFL1C,PSMF1,RAD21L1,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIRPB2,SLC52A3,SNPH,TMEM74B chr20 6496247 6496321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 6514079 6514161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 653891 653986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCRT2 chr20 655381 655481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCRT2 chr20 6603301 6679200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 6622899 6622999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 6696744 6708910 Gain or loss Breast cancer - 20668451 NOT_FOUND chr20 6696744 6708910 Gain or loss Cancer - 20668451 NOT_FOUND chr20 6696744 6708910 Gain or loss Lung cancer - 20668451 NOT_FOUND chr20 6696744 6708910 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr20 6696744 6708910 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr20 6696744 6708910 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr20 6696745 6707783 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 6696745 6708910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 6696745 6708910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 6706891 8271234 Gain Autism Exome sequencing and CGH 22495309 BMP2,HAO1,PLCB1,TMX4 chr20 6713188 6913950 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BMP2 chr20 6743790 6776927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BMP2 chr20 6746321 6746421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 6755276 8079904 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BMP2,HAO1,TMX4 chr20 6763475 6763510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 6778518 6778573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 6789732 6818469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 6825578 6825639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 6877599 7446490 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 688724 697228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 688724 697228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 688725 697131 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 7019888 7063498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 7025746 7026977 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 7041173 7082881 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 7041855 7059775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 7042701 7052800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr20 7044163 8253007 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HAO1,PLCB1,TMX4 chr20 7044782 7050846 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 70521 70596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DEFB125 chr20 7064837 7064937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7098927 7100827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 71231 74391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DEFB125 chr20 71231 74391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DEFB125 chr20 7141866 7142166 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 7141982 7142982 Loss Osteosarcoma References 21215367 NOT_FOUND chr20 7152802 7186836 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 7178 1006899 Substitutions and indels small cell lung cancer array-CGH 20016488 ANGPT4,C20orf96,CSNK2A1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,FAM110A,NRSN2,RBCK1,RSPO4,SCRT2,SLC52A3,SOX12,SRXN1,TBC1D20,TCF15,TRIB3,ZCCHC3 chr20 7186015 7186115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7187158 7187235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 7222337 7222649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 7289463 7289563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7291646 7291705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7310920 7356266 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 7313329 7313429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7316529 7484476 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 7346707 7351595 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 7346708 7348838 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr20 7346708 7351591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 7346742 7351609 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 7381601 7381701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7441893 7441993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7478813 7478913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7484087 7484177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7484777 7484877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 7491466 7609527 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 7501303 7502303 Gain Osteosarcoma References 21215367 NOT_FOUND chr20 7539061 7539122 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 7549034 7555569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 7551439 7555527 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 7551439 7555527 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr20 7552997 7555560 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr20 7562211 7562498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 7562218 7562497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 7562218 7562497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 7609527 9227935 LOH Normal High-resolution SNP genotyping 21211785 HAO1,PLCB1,PLCB4,TMX4 chr20 762356 774922 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr20 762356 774922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 762356 774922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 7625538 7625624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 7677645 7677745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 768043 768620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 768090 768620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 769501 777500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr20 773302 774918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 773766 112851844 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 AAR2,ABHD12,ABHD16B,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf201,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DHX35,DIDO1,DLGAP4,DNAJC5,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00176,LINC00261,LINC00266-1,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR1914,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR647,MIR663A,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,MYT1,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPBWR2,NPEPL1,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OPRL1,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCMTD2,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PRPF6,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RGS19,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMD10,SAMHD1,SCAND1,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX18,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TCEA2,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPD52L2,TPX2,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UCKL1,UCKL1-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF512B,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 7760445 7760969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 7767101 13889700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD5,BTBD3,C20orf94,ESF1,HAO1,ISM1,ISM1-AS1,JAG1,LAMP5,LOC339593,MKKS,NDUFAF5,PAK7,PLCB1,PLCB4,SEL1L2,SNAP25,SNAP25-AS1,SPTLC3,TASP1,TMX4 chr20 777501 1222000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANGPT4,C20orf202,FAM110A,PSMF1,RAD21L1,RSPO4,TMEM74B chr20 780763 2462130 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANGPT4,C20orf202,FAM110A,FKBP1A,FKBP1A-SDCBP2,LOC100289473,NSFL1C,PDYN,PSMF1,RAD21L1,RSPO4,SDCBP2,SDCBP2-AS1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SNORD119,SNPH,SNRPB,STK35,TGM3,TGM6,TMEM74B chr20 7811631 7869093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAO1 chr20 7811631 7869093 Gain and loss Pancreatic cancer SNP array 17952125 HAO1 chr20 7811631 7869093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAO1 chr20 7855914 7855993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 790329 805377 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr20 7906024 7948476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAO1 chr20 7906024 7948476 Gain and loss Pancreatic cancer SNP array 17952125 HAO1 chr20 7906024 7948476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAO1 chr20 7972499 7972598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMX4 chr20 8001 11943 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr20 8002182 8595665 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PLCB1 chr20 8008655 8008725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 801299 844962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM110A chr20 801299 844962 Gain and loss Pancreatic cancer SNP array 17952125 FAM110A chr20 801299 844962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM110A chr20 8026471 8028421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 8053348 8083975 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 8059247 8104964 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 8061296 8813547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLCB1 chr20 8061296 8813547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB1 chr20 8061299 8897003 Gain and loss Pancreatic cancer SNP array 17952125 PLCB1 chr20 8096164 8096301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 8124269 8230686 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 PLCB1 chr20 8135107 8135824 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PLCB1 chr20 8135107 8135824 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 PLCB1 chr20 8135618 8135800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB1 chr20 8223233 8223333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8223865 8548105 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLCB1 chr20 8253007 8724160 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLCB1 chr20 8305182 8350244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCB1 chr20 8310682 8310742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 83112 84533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 8311530 8311630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8336495 8336563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB1 chr20 8362041 8362457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB1 chr20 8369718 8369787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 839800 839881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 8443300 8443426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8443475 8443689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8496292 8496381 Gain and loss Pancreatic cancer SNP array 17952125 PLCB1 chr20 8496292 8496381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB1 chr20 8499173 8499258 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB1 chr20 8537827 8537912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB1 chr20 8538277 8538377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8538801 8538887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB1 chr20 8552525 8552625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8607242 8637441 Loss Autism qPCR 20531469 PLCB1 chr20 86122 87804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 86122 87804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 86122 87804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 8634438 9320204 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLCB1,PLCB4 chr20 8670462 8670615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8670571 8670619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8670601 8670789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8747 62379118 Gain Urothelial carcinoma array CGH validated by FISH 21177765 AAR2,ABHD12,ACOT8,ACSS1,ACSS2,ACTL10,ACTR5,ADA,ADAM33,ADIG,ADNP,ADRA1D,ADRM1,AHCY,ANGPT4,ANKRD5,AP5S1,APCDD1L,APCDD1L-AS1,APMAP,ARFGAP1,ARFGEF2,ARFRP1,ARHGAP40,ASIP,ASXL1,ATP5E,ATP9A,ATRN,AURKA,AVP,B4GALT5,BANF2,BCAS1,BCAS4,BCL2L1,BFSP1,BHLHE23,BIRC7,BLCAP,BMP2,BMP7,BPI,BPIFA1,BPIFA2,BPIFA3,BPIFA4P,BPIFB1,BPIFB2,BPIFB3,BPIFB4,BPIFB6,BTBD3,C20orf111,C20orf112,C20orf118,C20orf132,C20orf141,C20orf144,C20orf151,C20orf152,C20orf160,C20orf166,C20orf166-AS1,C20orf173,C20orf194,C20orf195,C20orf196,C20orf197,C20orf20,C20orf202,C20orf203,C20orf24,C20orf26,C20orf27,C20orf43,C20orf72,C20orf78,C20orf79,C20orf85,C20orf94,C20orf96,CABLES2,CASS4,CBFA2T2,CBLN4,CD40,CD93,CDC25B,CDH22,CDH26,CDH4,CDK5RAP1,CDS2,CEBPB,CENPB,CEP250,CHD6,CHGB,CHMP4B,CHRNA4,COL20A1,COL9A3,COMMD7,COX4I2,CPNE1,CPXM1,CRLS1,CRNKL1,CSE1L,CSNK2A1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTF1,CSTL1,CTCFL,CTNNBL1,CTSA,CTSZ,CYP24A1,DBNDD2,DDRGK1,DDX27,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,DHX35,DIDO1,DLGAP4,DNMT3B,DNTTIP1,DOK5,DPH3P1,DPM1,DSN1,DSTN,DTD1,DUSP15,DYNLRB1,DZANK1,DZANK1-AS1,E2F1,EBF4,EDEM2,EDN3,EEF1A2,EIF2S2,EIF6,ELMO2,EMILIN3,ENTPD6,EPB41L1,EPPIN,EPPIN-WFDC6,ERGIC3,ESF1,EYA2,FAM110A,FAM182A,FAM182B,FAM209A,FAM209B,FAM210B,FAM217B,FAM65C,FAM83C,FAM83D,FASTKD5,FER1L4,FERMT1,FITM2,FKBP1A,FKBP1A-SDCBP2,FLJ16779,FLJ33581,FLRT3,FOXA2,FOXS1,FRG1B,GATA5,GCNT7,GDAP1L1,GDF5,GFRA4,GGT7,GGTLC1,GHRH,GID8,GINS1,GMEB2,GNAS,GNAS-AS1,GNRH2,GPCPD1,GSS,GTPBP5,GTSF1L,GZF1,HAO1,HAR1A,HAR1B,HCK,HM13,HM13-AS1,HMGB3P1,HNF4A,HRH3,HSPA12B,ID1,IDH3B,IFT52,INSM1,ISM1,ISM1-AS1,ITCH,ITPA,JAG1,JPH2,KCNB1,KCNG1,KCNK15,KCNQ2,KCNS1,KIAA1755,KIF16B,KIF3B,L3MBTL1,LAMA5,LAMP5,LBP,LIME1,LINC00028,LINC00029,LINC00261,LINC00489,LINC00493,LINC00494,LINC00651,LINC00652,LINC00654,LINC00656,LINC00657,LINC00658,LINC00659,LOC100127888,LOC100130264,LOC100131496,LOC100134868,LOC100144597,LOC100270679,LOC100270804,LOC100287792,LOC100289473,LOC100505783,LOC100506384,LOC149950,LOC284751,LOC284757,LOC284788,LOC284798,LOC284801,LOC339568,LOC339593,LOC388796,LOC63930,LOC643406,LOC728228,LOC79015,LPIN3,LRRN4,LSM14B,MACROD2,MACROD2-AS1,MAFB,MANBAL,MAP1LC3A,MAPRE1,MATN4,MAVS,MC3R,MCM8,MIR1-1,MIR103A2,MIR103B2,MIR124-3,MIR1257,MIR1292,MIR133A2,MIR296,MIR298,MIR3192,MIR3193,MIR3194,MIR3196,MIR3616,MIR3646,MIR4325,MIR4326,MIR4532,MIR4533,MIR4755,MIR4756,MIR4758,MIR499A,MIR499B,MIR5095,MIR644A,MIR645,MIR663A,MKKS,MKRN7P,MLLT10P1,MMP24,MMP9,MOCS3,MRPS26,MTRNR2L3,MYBL2,MYH7B,MYL9,MYLK2,NAA20,NANP,NAPB,NCOA3,NCOA5,NCOA6,NCOR1P1,NDRG3,NDUFAF5,NECAB3,NEURL2,NFATC2,NFS1,NINL,NKAIN4,NKX2-2,NKX2-4,NNAT,NOP56,NPEPL1,NRSN2,NSFL1C,NTSR1,NXT1,OCSTAMP,OGFR,OSBPL2,OTOR,OVOL2,OXT,PABPC1L,PAK7,PANK2,PARD6B,PAX1,PCED1A,PCIF1,PCK1,PCNA,PCNA-AS1,PCSK2,PDRG1,PDYN,PET117,PFDN4,PHACTR3,PHF20,PI3,PIGT,PIGU,PKIG,PLAGL2,PLCB1,PLCB4,PLCG1,PLK1S1,PLTP,PMEPA1,POFUT1,POLR3F,PPDPF,PPP1R16B,PPP1R3D,PPP4R1L,PREX1,PRIC285,PRND,PRNP,PRNT,PROCR,PROKR2,PROSAPIP1,PSIMCT-1,PSMA7,PSMF1,PTGIS,PTK6,PTPN1,PTPRA,PTPRT,PXMP4,PYGB,R3HDML,RAB22A,RAD21L1,RAE1,RALGAPA2,RALGAPB,RALY,RASSF2,RBBP9,RBCK1,RBL1,RBM12,RBM38,RBM39,RBPJL,REM1,RIMS4,RIN2,RNF114,RNF24,ROMO1,RPN2,RPRD1B,RPS21,RRBP1,RSPO4,RTEL1,RTEL1-TNFRSF6B,SALL4,SAMHD1,SCAND1,SCRT2,SDC4,SDCBP2,SDCBP2-AS1,SEC23B,SEL1L2,SEMG1,SEMG2,SERINC3,SGK2,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLA2,SLC12A5,SLC13A3,SLC17A9,SLC23A2,SLC24A3,SLC2A10,SLC2A4RG,SLC32A1,SLC35C2,SLC4A11,SLC52A3,SLC9A8,SLCO4A1,SLMO2,SLMO2-ATP5E,SLPI,SMOX,SNAI1,SNAP25,SNAP25-AS1,SNHG11,SNORA39,SNORA51,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D,SNORD110,SNORD119,SNORD12,SNORD12B,SNORD12C,SNORD17,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SNRPB2,SNTA1,SNX21,SNX5,SOGA1,SOX12,SPAG4,SPATA2,SPATA25,SPEF1,SPINT3,SPINT4,SPO11,SPTLC3,SRC,SRMS,SRSF6,SRXN1,SS18L1,SSTR4,STAU1,STK35,STK4,STK4-AS1,STMN3,STX16,STX16-NPEPL1,SULF2,SUMO1P1,SUN5,SYCP2,SYNDIG1,SYS1,SYS1-DBNDD2,TAF4,TASP1,TBC1D20,TCF15,TCFL5,TFAP2C,TGIF2,TGIF2-C20ORF24,TGM2,TGM3,TGM6,TH1L,THBD,TM9SF4,TMC2,TMEM189,TMEM189-UBE2V1,TMEM230,TMEM239,TMEM74B,TMX4,TNFRSF6B,TNNC2,TOMM34,TOP1,TOX2,TP53INP2,TP53RK,TP53TG5,TPX2,TRIB3,TRMT6,TRPC4AP,TSHZ2,TSPY26P,TTI1,TTLL9,TTPAL,TUBB1,UBE2C,UBE2V1,UBOX5,UBOX5-AS1,UQCC,VAPB,VPS16,VSTM2L,VSX1,WFDC10A,WFDC10B,WFDC11,WFDC12,WFDC13,WFDC2,WFDC3,WFDC5,WFDC6,WFDC8,WFDC9,WISP2,XKR7,XRN2,YTHDF1,YWHAB,ZBP1,ZBTB46,ZCCHC3,ZFP64,ZGPAT,ZHX3,ZMYND8,ZNF133,ZNF217,ZNF334,ZNF335,ZNF337,ZNF341,ZNF343,ZNF663,ZNF831,ZNFX1,ZNFX1-AS1,ZSWIM1,ZSWIM3 chr20 8755150 8764491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB1 chr20 8759832 8760040 Gain and loss Pancreatic cancer SNP array 17952125 PLCB1 chr20 8759833 8760040 Gain and loss Pancreatic cancer SNP array 17952125 PLCB1 chr20 8759833 8760040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB1 chr20 8774860 8775045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB1 chr20 878160 878262 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANGPT4 chr20 8816310 8816504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8816399 8816505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8816494 8816737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8816499 8816599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB1 chr20 8858542 8858685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB1 chr20 887098 930904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANGPT4 chr20 887098 930904 Gain and loss Pancreatic cancer SNP array 17952125 ANGPT4 chr20 887098 930904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANGPT4 chr20 8898291 9227700 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PLCB4 chr20 8918847 8918959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 8921331 8921400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 8942648 8942764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 894353 894448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANGPT4 chr20 8997333 9409889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLCB4 chr20 8997333 9409889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB4 chr20 9000000 11900000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ANKRD5,BTBD3,C20orf94,JAG1,LAMP5,LOC339593,MKKS,PAK7,PLCB4,SNAP25,SNAP25-AS1 chr20 9000000 11900000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ANKRD5,BTBD3,C20orf94,JAG1,LAMP5,LOC339593,MKKS,PAK7,PLCB4,SNAP25,SNAP25-AS1 chr20 9000000 11900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD5,BTBD3,C20orf94,JAG1,LAMP5,LOC339593,MKKS,PAK7,PLCB4,SNAP25,SNAP25-AS1 chr20 9000000 25700000 Deletion Medulloblastoma SNP arrays 21979893 ABHD12,ACSS1,ANKRD5,APMAP,BANF2,BFSP1,BTBD3,C20orf26,C20orf72,C20orf78,C20orf79,C20orf94,CD93,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DSTN,DTD1,DZANK1,DZANK1-AS1,ENTPD6,ESF1,FLJ33581,FLRT3,FOXA2,GGTLC1,GINS1,GZF1,INSM1,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LINC00261,LINC00493,LINC00652,LINC00656,LOC100130264,LOC100270679,LOC100270804,LOC284788,LOC284798,LOC339593,MACROD2,MACROD2-AS1,MIR3192,MKKS,NAA20,NANP,NAPB,NDUFAF5,NINL,NKX2-2,NKX2-4,NXT1,OTOR,OVOL2,PAK7,PAX1,PCSK2,PET117,PLCB4,PLK1S1,POLR3F,PYGB,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SEL1L2,SLC24A3,SNAP25,SNAP25-AS1,SNORD17,SNRPB2,SNX5,SPTLC3,SSTR4,SYNDIG1,TASP1,THBD,VSX1,XRN2,ZNF133,ZNF337 chr20 9002000 17491000 Amplification Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ANKRD5,BFSP1,BTBD3,C20orf94,ESF1,FLRT3,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LOC339593,MACROD2,MACROD2-AS1,MKKS,NDUFAF5,OTOR,PAK7,PCSK2,PLCB4,SEL1L2,SNAP25,SNAP25-AS1,SNRPB2,SPTLC3,TASP1 chr20 9002000 17491000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ANKRD5,BFSP1,BTBD3,C20orf94,ESF1,FLRT3,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LOC339593,MACROD2,MACROD2-AS1,MKKS,NDUFAF5,OTOR,PAK7,PCSK2,PLCB4,SEL1L2,SNAP25,SNAP25-AS1,SNRPB2,SPTLC3,TASP1 chr20 9002000 17491000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ANKRD5,BFSP1,BTBD3,C20orf94,ESF1,FLRT3,ISM1,ISM1-AS1,JAG1,KIF16B,LAMP5,LOC339593,MACROD2,MACROD2-AS1,MKKS,NDUFAF5,OTOR,PAK7,PCSK2,PLCB4,SEL1L2,SNAP25,SNAP25-AS1,SNRPB2,SPTLC3,TASP1 chr20 9021339 9021409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 9024932 9409460 Gain and loss Pancreatic cancer SNP array 17952125 PLCB4 chr20 9071989 9072089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB4 chr20 9097570 9097622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB4 chr20 9119609 9119709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB4 chr20 9124611 9124705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB4 chr20 9141752 9142025 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLCB4 chr20 9144836 9144936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB4 chr20 9152140 9171465 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCB4 chr20 9186959 9186991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB4 chr20 9188838 11901629 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD5,BTBD3,C20orf94,JAG1,LAMP5,LOC339593,MKKS,PAK7,PLCB4,SNAP25,SNAP25-AS1 chr20 9200000 12100000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ANKRD5,BTBD3,C20orf94,JAG1,LAMP5,LOC339593,MKKS,PAK7,PLCB4,SNAP25,SNAP25-AS1 chr20 9227935 9257270 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PLCB4 chr20 9227935 9257270 Copy number gain Normal High-resolution SNP genotyping 21211785 PLCB4 chr20 9227976 9228076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB4 chr20 9232263 9262450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCB4 chr20 9235821 9235921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB4 chr20 9263242 9358518 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PLCB4 chr20 9312413 9329890 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PLCB4 chr20 9312413 9329890 Copy number gain Normal High-resolution SNP genotyping 21211785 PLCB4 chr20 9332526 9332626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCB4 chr20 940665 1109400 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 PSMF1,RSPO4 chr20 9411267 9427884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCB4 chr20 941492 941592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSPO4 chr20 9422934 9426659 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCB4 chr20 9435501 9437000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLCB4 chr20 9443271 9459171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLCB4 chr20 9443271 9459171 Gain and loss Pancreatic cancer SNP array 17952125 PLCB4 chr20 9443271 9459171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCB4 chr20 9466036 9767687 Copy number Lung cancer - 20668451 LAMP5,PAK7 chr20 9466036 9767687 Gain or loss Breast cancer - 20668451 LAMP5,PAK7 chr20 9466036 9767687 Gain or loss Cancer - 20668451 LAMP5,PAK7 chr20 9466036 9767687 Gain or loss Lung cancer - 20668451 LAMP5,PAK7 chr20 9466036 9767687 Gain or loss Ovarian cancer - 20668451 LAMP5,PAK7 chr20 9466036 9767687 Gain or loss Pancreas cancer - 20668451 LAMP5,PAK7 chr20 9466036 9767687 Gain or loss Prostate cancer - 20668451 LAMP5,PAK7 chr20 9466036 9767689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LAMP5,PAK7 chr20 9466036 9767689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LAMP5,PAK7 chr20 9466036 9767689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAMP5,PAK7 chr20 9466037 9767689 Gain and loss Pancreatic cancer SNP array 17952125 LAMP5,PAK7 chr20 9477774 9477880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 9477922 9478131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 9572119 9572277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAK7 chr20 9572332 9572455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAK7 chr20 9580312 27100000 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABHD12,ACSS1,ANKRD5,APMAP,BANF2,BFSP1,BTBD3,C20orf26,C20orf72,C20orf78,C20orf79,C20orf94,CD93,CRNKL1,CSRP2BP,CST1,CST11,CST13P,CST2,CST3,CST4,CST5,CST7,CST8,CST9,CST9L,CSTL1,DSTN,DTD1,DZANK1,DZANK1-AS1,ENTPD6,ESF1,FAM182A,FAM182B,FLJ33581,FLRT3,FOXA2,GGTLC1,GINS1,GZF1,INSM1,ISM1,ISM1-AS1,JAG1,KIF16B,LINC00261,LINC00493,LINC00652,LINC00656,LOC100130264,LOC100134868,LOC100270679,LOC100270804,LOC284788,LOC284798,LOC284801,LOC339593,MACROD2,MACROD2-AS1,MIR3192,MIR663A,MKKS,NAA20,NANP,NAPB,NCOR1P1,NDUFAF5,NINL,NKX2-2,NKX2-4,NXT1,OTOR,OVOL2,PAK7,PAX1,PCSK2,PET117,PLK1S1,POLR3F,PYGB,RALGAPA2,RBBP9,RIN2,RRBP1,SEC23B,SEL1L2,SLC24A3,SNAP25,SNAP25-AS1,SNORD17,SNRPB2,SNX5,SPTLC3,SSTR4,SYNDIG1,TASP1,THBD,VSX1,XRN2,ZNF133,ZNF337 chr20 9595998 9596154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAK7 chr20 9600024 9600124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAK7 chr20 9640858 9640975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAK7 chr20 9644762 9644815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAK7 chr20 970616 970679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSPO4 chr20 9807078 9807173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAK7 chr20 981233 1014560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RSPO4 chr20 9852378 9852418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 9861262 9889211 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr20 9864773 9864873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 98836 111637 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr20 9884003 9884322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr20 9890270 9914814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr20 9897648 10427785 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD5,C20orf94,MKKS,SNAP25,SNAP25-AS1 chr20 9906409 9906504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr20 9944 7553629 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ADAM33,ADRA1D,ANGPT4,AP5S1,ATRN,AVP,BMP2,C20orf141,C20orf194,C20orf196,C20orf202,C20orf27,C20orf96,CDC25B,CDS2,CENPB,CHGB,CPXM1,CRLS1,CSNK2A1,DDRGK1,DEFB125,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,EBF4,FAM110A,FASTKD5,FERMT1,FKBP1A,FKBP1A-SDCBP2,GFRA4,GNRH2,GPCPD1,HSPA12B,IDH3B,ITPA,LINC00654,LINC00658,LOC100289473,LOC643406,LOC728228,LRRN4,MAVS,MCM8,MIR103A2,MIR103B2,MIR1292,MRPS26,NOP56,NRSN2,NSFL1C,OXT,PANK2,PCED1A,PCNA,PCNA-AS1,PDYN,PRND,PRNP,PRNT,PROKR2,PROSAPIP1,PSMF1,PTPRA,RAD21L1,RASSF2,RBCK1,RNF24,RSPO4,SCRT2,SDCBP2,SDCBP2-AS1,SIGLEC1,SIRPA,SIRPB1,SIRPB2,SIRPD,SIRPG,SLC23A2,SLC4A11,SLC52A3,SMOX,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNPH,SNRPB,SOX12,SPEF1,SRXN1,STK35,TBC1D20,TCF15,TGM3,TGM6,TMC2,TMEM230,TMEM239,TMEM74B,TRIB3,TRMT6,UBOX5,UBOX5-AS1,VPS16,ZCCHC3,ZNF343 chr20 9954565 9954816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 9954565 9954816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 9963689 9985405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 9963689 9985405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr20 9963697 9985405 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr20 9970923 10015541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNAP25-AS1 chr2 10000000 85000000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 AAK1,ABCG5,ABCG8,ABHD1,ACTG2,ACTR2,ACYP2,ADCY3,ADD2,AFTPH,AGBL5,AHSA2,ALK,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CNRIP1,COMMD1,COX7A2L,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FAM136A,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IFT172,INO80B,INO80B-WBP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00309,LINC00486,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506474,LOC1720,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC644838,LOC645949,LOC728730,LOC728819,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MATN3,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POLE4,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RHOB,RHOQ,ROCK2,RPL23AP32,RPS27A,RRM2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFXN5,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TET3,TEX261,TGFA,THADA,THUMPD2,TIA1,TLX2,TMEM17,TMEM178A,TMEM214,TMEM247,TP53I3,TPRKB,TRIB2,TRIM54,TRMT61B,TSPYL6,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 10001257 10059854 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF1B chr2 10001257 10059856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF1B chr2 10001257 10059856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF1B chr2 100040134 100073757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 REV1 chr2 100103393 100103493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 REV1 chr2 100153000 100180120 Duplication Non-syndromic sensorineural hearing loss References 19212409 AFF3 chr2 100154381 100184667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AFF3 chr2 100156944 100686825 LOH Normal High-resolution SNP genotyping 21211785 AFF3 chr2 100163801 100170500 Deletion Glioma mate-paired sequence 20126413 AFF3 chr2 100172993 100203858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AFF3 chr2 100193596 101332383 LOH Normal High-resolution SNP genotyping 21211785 AFF3,CHST10,LONRF2,NMS,PDCL3 chr2 100250270 100250349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AFF3 chr2 100256184 100305627 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AFF3 chr2 100256186 100305627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 100256186 100305627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 100260662 100284374 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AFF3 chr2 100358522 100384485 Gain and loss Pancreatic cancer SNP array 17952125 AFF3 chr2 100374762 100400550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 100374762 100400550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 100407582 100407935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 10042420 10093001 Gain and loss Pancreatic cancer SNP array 17952125 GRHL1,TAF1B chr2 100437226 100437326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AFF3 chr2 100445235 100445525 Gain and loss Pancreatic cancer SNP array 17952125 AFF3 chr2 100451659 100451759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AFF3 chr2 100453376 100466174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 100453376 100466174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 100453490 108547845 Gain Non-syndromic sensorineural hearing loss array CGH 18496225 AFF3,C2orf29,C2orf40,C2orf49,CHST10,CREG2,FHL2,GPR45,IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,LOC100287010,LOC100506421,LOC150568,LOC284998,LOC285000,LOC729121,LONRF2,MAP4K4,MFSD9,MIR4772,MIR5696,MRPS9,NCK2,NMS,NPAS2,PDCL3,PLGLA,POU3F3,RFX8,RGPD3,RGPD4,RNF149,RPL31,SLC9A2,SLC9A4,SNORD89,ST6GAL2,TBC1D8,TGFBRAP1,TMEM182,UXS1 chr2 100466848 100492636 Gain and loss Pancreatic cancer SNP array 17952125 AFF3 chr2 100517051 100517095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AFF3 chr2 10052137 10052205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAF1B chr2 100534204 100559633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 100534204 100559633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 100545849 100559633 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AFF3 chr2 100562014 100562099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AFF3 chr2 100573947 100574218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AFF3 chr2 10058102 10078268 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TAF1B chr2 10058102 10105262 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GRHL1,TAF1B chr2 100584227 100584595 Gain and loss Pancreatic cancer SNP array 17952125 AFF3 chr2 10060737 10063609 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TAF1B chr2 10060737 10063609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF1B chr2 10060737 10063609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF1B chr2 10062000 11645000 Amplification Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ATP6V1C2,C2orf48,C2orf50,CYS1,E2F6,FLJ33534,GRHL1,HPCAL1,KCNF1,KLF11,LINC00570,MIR4261,NOL10,ODC1,PDIA6,PQLC3,ROCK2,RRM2,SNORA80B,TAF1B chr2 10062000 11645000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ATP6V1C2,C2orf48,C2orf50,CYS1,E2F6,FLJ33534,GRHL1,HPCAL1,KCNF1,KLF11,LINC00570,MIR4261,NOL10,ODC1,PDIA6,PQLC3,ROCK2,RRM2,SNORA80B,TAF1B chr2 100635692 100668807 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AFF3 chr2 100637957 100651681 Gain and loss Pancreatic cancer SNP array 17952125 AFF3 chr2 10064001 10292000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf48,CYS1,GRHL1,KLF11,RRM2,TAF1B chr2 100666033 100666304 Gain and loss Pancreatic cancer SNP array 17952125 AFF3 chr2 100756974 100757074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AFF3 chr2 100803044 100979719 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LONRF2 chr2 100803045 100979719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LONRF2 chr2 100803045 100979719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LONRF2 chr2 100935918 100936096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LONRF2 chr2 10093884 10096756 Gain and loss Pancreatic cancer SNP array 17952125 GRHL1 chr2 100979711 101071032 Gain and loss Pancreatic cancer SNP array 17952125 CHST10 chr2 100985123 101002510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 100985123 101002510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 100990123 101134278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHST10,NMS chr2 100990123 101134278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST10,NMS chr2 100996665 100996765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 0 0 Deletion Usher type I cohort multiplex ligation-dependent probe amplification(MLPA) has been designed by MRC-Holland 21436283 NOT_FOUND chr2 10100427 10112414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRHL1 chr2 10100427 10112414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRHL1 chr2 10101133 10112414 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRHL1 chr2 101077269 101081398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 10114054 10115235 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRHL1 chr2 10114423 10137801 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRHL1 chr2 10114423 10137801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRHL1 chr2 10114423 10137801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRHL1 chr2 101230897 101276486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 101235810 101253208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 101235810 101253208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 101255830 101255943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 101258984 101291584 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 101258985 101291584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 101258985 101291584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 10126842 10213319 Gain and loss Pancreatic cancer SNP array 17952125 CYS1,GRHL1,KLF11 chr2 101327896 101345294 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 101331655 101370489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 101331655 101370489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 101341636 101341968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 10134280 10145561 Gain and loss Pancreatic cancer SNP array 17952125 GRHL1 chr2 101351071 101383670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 101380255 101457597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPAS2 chr2 101380255 101457597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPAS2 chr2 101422501 101455800 Deletion Glioma mate-paired sequence 20126413 NPAS2 chr2 101423741 101462575 Gain and loss Pancreatic cancer SNP array 17952125 NPAS2 chr2 101435873 101436044 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 101464271 101464597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS2 chr2 10147201 10148382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 101472341 101554914 Gain and loss Pancreatic cancer SNP array 17952125 NPAS2 chr2 10147783 10147897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 101485856 101486048 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS2 chr2 101503215 101503315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS2 chr2 101513273 102394615 LOH Normal High-resolution SNP genotyping 21211785 C2orf29,CREG2,MAP4K4,MIR5696,NPAS2,RFX8,RNF149,RPL31,SNORD89,TBC1D8 chr2 101513273 102637166 LOH Normal High-resolution SNP genotyping 21211785 C2orf29,CREG2,IL1R2,MAP4K4,MIR5696,NPAS2,RFX8,RNF149,RPL31,SNORD89,TBC1D8 chr2 10153347 10153447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 101587333 101587409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPAS2 chr2 101597201 101601600 Deletion Glioma mate-paired sequence 20126413 NPAS2 chr2 101599014 101600019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPAS2 chr2 101599029 101599823 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NPAS2 chr2 101630243 101630343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPL31,TBC1D8 chr2 101635661 101635760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPL31,TBC1D8 chr2 101680900 101681366 Loss Autism 1M Ailent CGH whole-genome array 21865298 TBC1D8 chr2 101680920 101877583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf29,TBC1D8 chr2 101680920 101877583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf29,TBC1D8 chr2 101723033 101723347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D8 chr2 101760242 101767870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D8 chr2 101763391 101766764 Loss Normal Birdsuite, version 1.5.2 22087296 TBC1D8 chr2 101768552 101768699 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 101768564 101768664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 101773061 101966229 Gain and loss Pancreatic cancer SNP array 17952125 C2orf29,CREG2,MIR5696,RNF149,SNORD89 chr2 10179906 10188996 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KLF11 chr2 10179906 10188996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLF11 chr2 10179906 10188996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLF11 chr2 10180185 10188074 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 KLF11 chr2 1018034 1591973 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 SNTG2,TPO chr2 101810474 102737067 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf29,CREG2,IL1R2,MAP4K4,MIR5696,RFX8,RNF149,SNORD89 chr2 101810474 102990620 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf29,CREG2,IL18R1,IL1R1,IL1R2,IL1RL1,IL1RL2,MAP4K4,MIR5696,RFX8,RNF149,SNORD89 chr2 101827160 101827160 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr2 101864046 101888131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2orf29 chr2 10193197 10209245 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYS1,KLF11 chr2 10193938 10560525 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C2orf48,CYS1,HPCAL1,KLF11,MIR4261,RRM2 chr2 101966870 101969667 Gain and loss Pancreatic cancer SNP array 17952125 CREG2 chr2 101974737 102011316 Gain or loss Breast cancer - 20668451 CREG2 chr2 101974737 102011316 Gain or loss Cancer - 20668451 CREG2 chr2 101974737 102011316 Gain or loss Lung cancer - 20668451 CREG2 chr2 101974737 102011316 Gain or loss Ovarian cancer - 20668451 CREG2 chr2 101974737 102011316 Gain or loss Pancreas cancer - 20668451 CREG2 chr2 101974737 102011316 Gain or loss Prostate cancer - 20668451 CREG2 chr2 101974738 102011312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CREG2 chr2 101974738 102011312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREG2 chr2 10198960 10269307 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYS1,RRM2 chr2 10198960 10269307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYS1,RRM2 chr2 10198960 10269307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYS1,RRM2 chr2 102053267 102162766 Gain or loss Breast cancer - 20668451 RFX8 chr2 102053267 102162766 Gain or loss Cancer - 20668451 RFX8 chr2 102053267 102162766 Gain or loss Lung cancer - 20668451 RFX8 chr2 102053267 102162766 Gain or loss Ovarian cancer - 20668451 RFX8 chr2 102053267 102162766 Gain or loss Pancreas cancer - 20668451 RFX8 chr2 102053267 102162766 Gain or loss Prostate cancer - 20668451 RFX8 chr2 102053268 102162766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RFX8 chr2 102053268 102162766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RFX8 chr2 102066824 102103400 Gain and loss Pancreatic cancer SNP array 17952125 RFX8 chr2 102092250 102092314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 102100000 105300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,LOC100287010,LOC150568,MAP4K4,MFSD9,MIR4772,SLC9A2,SLC9A4,TMEM182 chr2 10212650 10212784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYS1 chr2 10213331 10221218 Gain and loss Pancreatic cancer SNP array 17952125 CYS1 chr2 102136834 102162766 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 102137174 102175094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 102169865 102222243 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 102169865 102222243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 102169865 102222243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 102170470 102741770 LOH Normal High-resolution SNP genotyping 21211785 IL1R2,MAP4K4 chr2 102195978 102197523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 102221921 103939093 LOH Normal High-resolution SNP genotyping 21211785 IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,MAP4K4,MFSD9,MIR4772,SLC9A2,SLC9A4,TMEM182 chr2 102228920 102254852 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 102232746 102233153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 102261951 102314329 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K4 chr2 102277402 102282297 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 102292943 102345460 Loss Autism qPCR 20531469 MAP4K4 chr2 102294394 102334929 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAP4K4 chr2 102294394 102334929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP4K4 chr2 102294394 102334929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4K4 chr2 102294421 102381650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP4K4 chr2 102294421 102381650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4K4 chr2 10232608 10301321 Gain and loss Pancreatic cancer SNP array 17952125 C2orf48,RRM2 chr2 102327016 102334934 Loss Normal Birdsuite, version 1.5.2 22087296 MAP4K4 chr2 102332601 102337400 Deletion Glioma mate-paired sequence 20126413 MAP4K4 chr2 102334147 103125484 LOH Normal High-resolution SNP genotyping 21211785 IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,MAP4K4,MIR4772,SLC9A4 chr2 102345529 102381650 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAP4K4 chr2 102350896 102350896 Copy number Prostate cancer Illumina GA II sequencer 21307934 MAP4K4 chr2 102355402 102382182 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP4K4 chr2 102364152 102366622 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MAP4K4 chr2 102383942 102384042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP4K4 chr2 102386480 102427015 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K4 chr2 102392411 102395384 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MAP4K4 chr2 102393804 102398185 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MAP4K4 chr2 102394615 102399918 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MAP4K4 chr2 102400000 159600000 Deletion Splenic marginal zone lymphoma BAC CGH array 21957467 ACMSD,ACOXL,ACTR3,ACVR1,ACVR1C,ACVR2A,AMMECR1L,ANAPC1,ANKRD30BL,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,BCL2L11,BIN1,BUB1,C1QL2,C2orf27A,C2orf27B,C2orf40,C2orf49,C2orf76,CACNB4,CBWD2,CCDC115,CCDC138,CCDC148,CCDC148-AS1,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CFC1,CFC1B,CHCHD5,CKAP2L,CLASP1,CNTNAP5,CXCR4,CYP27C1,CYP4F30P,CYTIP,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,EDAR,EN1,EPB41L5,EPC2,ERCC3,ERMN,FAM123C,FAM138B,FAM168B,FBLN7,FHL2,FLJ42351,FMNL2,FOXD4L1,GALNT13,GALNT5,GCC2,GLI2,GPD2,GPR148,GPR17,GPR39,GPR45,GTDC1,GYPC,HNMT,HS6ST1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INSIG2,IWS1,KCNJ3,KIF5C,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100129961,LOC100131320,LOC100144595,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506421,LOC100507334,LOC100507600,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC541471,LOC646743,LOC647012,LOC654433,LOC729121,LOC84931,LRP1B,LYPD1,LYPD6,LYPD6B,MALL,MAP3K2,MAP4K4,MARCO,MBD5,MCM6,MERTK,MFSD9,MGAT5,MIR128-1,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4773-1,MIR4773-2,MIR4782,MIR4783,MIR4784,MIR663B,MKI67IP,MMADHC,MRPS9,MYO7B,MZT2A,MZT2B,NCK2,NCKAP5,NEB,NMI,NPHP1,NR4A2,NXPH2,ORC4,PABPC1P2,PAX8,PCDP1,PKP4,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PRPF40A,PSD4,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RBM43,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RND3,RNU4ATAC,RNU6-81,RPL23AP7,RPRM,SAP130,SCTR,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SOWAHC,SPOPL,ST6GAL2,STAM2,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TFCP2L1,TGFBRAP1,THSD7B,TISP43,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TNFAIP6,TSN,TTL,TUBA3D,TUBA3E,UBXN4,UGGT1,UPP2,UXS1,WASH2P,WDR33,WTH3DI,YSK4,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZRANB3 chr2 102401686 102435457 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAP4K4 chr2 102401686 102435457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP4K4 chr2 102401686 102435457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4K4 chr2 102437615 102473736 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K4 chr2 102440463 102476784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP4K4 chr2 102456194 102516859 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAP4K4 chr2 102456194 102516862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP4K4 chr2 102456194 102516862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4K4 chr2 10245797 10245931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 102493772 102527543 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K4 chr2 102508526 102508626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP4K4 chr2 102553679 103424219 LOH Normal High-resolution SNP genotyping 21211785 IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,MFSD9,MIR4772,SLC9A2,SLC9A4,TMEM182 chr2 10258015 10258293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 10258095 10258280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 102587195 102600036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 102602598 102694239 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IL1R2 chr2 102602598 102694239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL1R2 chr2 102602598 102694239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL1R2 chr2 102626678 102626773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL1R2 chr2 102637166 103934538 LOH Normal High-resolution SNP genotyping 21211785 IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,MFSD9,MIR4772,SLC9A2,SLC9A4,TMEM182 chr2 102667665 103787754 LOH Normal High-resolution SNP genotyping 21211785 IL18R1,IL18RAP,IL1R1,IL1RL1,IL1RL2,MFSD9,MIR4772,SLC9A2,SLC9A4,TMEM182 chr2 102672201 103787754 LOH Normal High-resolution SNP genotyping 21211785 IL18R1,IL18RAP,IL1R1,IL1RL1,IL1RL2,MFSD9,MIR4772,SLC9A2,SLC9A4,TMEM182 chr2 102688916 102689250 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 102694684 102786325 Gain and loss Pancreatic cancer SNP array 17952125 IL1R1 chr2 102700000 110200000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 C2orf40,C2orf49,CCDC138,EDAR,FHL2,GCC2,GPR45,IL18R1,IL18RAP,IL1R1,IL1RL1,IL1RL2,LIMS1,LOC100287010,LOC100506421,LOC150568,LOC284998,LOC285000,LOC729121,MFSD9,MIR4265,MIR4266,MIR4772,MRPS9,NCK2,PLGLA,POU3F3,RANBP2,RGPD3,RGPD4,SH3RF3,SH3RF3-AS1,SLC5A7,SLC9A2,SLC9A4,ST6GAL2,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TGFBRAP1,TMEM182,UXS1 chr2 102700000 110200000 Gain Sudden cardiac death CGH 19188705 C2orf40,C2orf49,CCDC138,EDAR,FHL2,GCC2,GPR45,IL18R1,IL18RAP,IL1R1,IL1RL1,IL1RL2,LIMS1,LOC100287010,LOC100506421,LOC150568,LOC284998,LOC285000,LOC729121,MFSD9,MIR4265,MIR4266,MIR4772,MRPS9,NCK2,PLGLA,POU3F3,RANBP2,RGPD3,RGPD4,SH3RF3,SH3RF3-AS1,SLC5A7,SLC9A2,SLC9A4,ST6GAL2,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TGFBRAP1,TMEM182,UXS1 chr2 102700000 163700000 Loss Basal cell lymphoma Array CGH 16317097 ACMSD,ACOXL,ACTR3,ACVR1,ACVR1C,ACVR2A,AMMECR1L,ANAPC1,ANKRD30BL,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,BAZ2B,BCL2L11,BIN1,BUB1,C1QL2,C2orf27A,C2orf27B,C2orf40,C2orf49,C2orf76,CACNB4,CBWD2,CCDC115,CCDC138,CCDC148,CCDC148-AS1,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CD302,CFC1,CFC1B,CHCHD5,CKAP2L,CLASP1,CNTNAP5,CXCR4,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DPP4,EDAR,EN1,EPB41L5,EPC2,ERCC3,ERMN,FAM123C,FAM138B,FAM168B,FAP,FBLN7,FHL2,FLJ42351,FMNL2,FOXD4L1,GALNT13,GALNT5,GCA,GCC2,GCG,GLI2,GPD2,GPR148,GPR17,GPR39,GPR45,GTDC1,GYPC,HNMT,HS6ST1,IFIH1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INSIG2,ITGB6,IWS1,KCNH7,KCNJ3,KIF5C,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100129961,LOC100131320,LOC100144595,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506421,LOC100507334,LOC100507600,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC541471,LOC646743,LOC647012,LOC654433,LOC729121,LOC84931,LRP1B,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MALL,MAP3K2,MARCH7,MARCO,MBD5,MCM6,MERTK,MFSD9,MGAT5,MIR128-1,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4773-1,MIR4773-2,MIR4782,MIR4783,MIR4784,MIR4785,MIR663B,MKI67IP,MMADHC,MRPS9,MYO7B,MZT2A,MZT2B,NCK2,NCKAP5,NEB,NMI,NPHP1,NR4A2,NXPH2,ORC4,PABPC1P2,PAX8,PCDP1,PKP4,PLA2R1,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PRPF40A,PSD4,PSMD14,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RBM43,RBMS1,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RND3,RNU4ATAC,RNU6-81,RPL23AP7,RPRM,SAP130,SCTR,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC4A10,SLC5A7,SLC9A2,SLC9A4,SMPD4,SOWAHC,SPOPL,ST6GAL2,STAM2,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TANC1,TANK,TBR1,TFCP2L1,TGFBRAP1,THSD7B,TISP43,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TNFAIP6,TSN,TTL,TUBA3D,TUBA3E,UBXN4,UGGT1,UPP2,UXS1,WASH2P,WDR33,WDSUB1,WTH3DI,YSK4,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZRANB3 chr2 102700000 163700000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ACMSD,ACOXL,ACTR3,ACVR1,ACVR1C,ACVR2A,AMMECR1L,ANAPC1,ANKRD30BL,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,BAZ2B,BCL2L11,BIN1,BUB1,C1QL2,C2orf27A,C2orf27B,C2orf40,C2orf49,C2orf76,CACNB4,CBWD2,CCDC115,CCDC138,CCDC148,CCDC148-AS1,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CD302,CFC1,CFC1B,CHCHD5,CKAP2L,CLASP1,CNTNAP5,CXCR4,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DPP4,EDAR,EN1,EPB41L5,EPC2,ERCC3,ERMN,FAM123C,FAM138B,FAM168B,FAP,FBLN7,FHL2,FLJ42351,FMNL2,FOXD4L1,GALNT13,GALNT5,GCA,GCC2,GCG,GLI2,GPD2,GPR148,GPR17,GPR39,GPR45,GTDC1,GYPC,HNMT,HS6ST1,IFIH1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INSIG2,ITGB6,IWS1,KCNH7,KCNJ3,KIF5C,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100129961,LOC100131320,LOC100144595,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506421,LOC100507334,LOC100507600,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC541471,LOC646743,LOC647012,LOC654433,LOC729121,LOC84931,LRP1B,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MALL,MAP3K2,MARCH7,MARCO,MBD5,MCM6,MERTK,MFSD9,MGAT5,MIR128-1,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4773-1,MIR4773-2,MIR4782,MIR4783,MIR4784,MIR4785,MIR663B,MKI67IP,MMADHC,MRPS9,MYO7B,MZT2A,MZT2B,NCK2,NCKAP5,NEB,NMI,NPHP1,NR4A2,NXPH2,ORC4,PABPC1P2,PAX8,PCDP1,PKP4,PLA2R1,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PRPF40A,PSD4,PSMD14,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RBM43,RBMS1,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RND3,RNU4ATAC,RNU6-81,RPL23AP7,RPRM,SAP130,SCTR,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC4A10,SLC5A7,SLC9A2,SLC9A4,SMPD4,SOWAHC,SPOPL,ST6GAL2,STAM2,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TANC1,TANK,TBR1,TFCP2L1,TGFBRAP1,THSD7B,TISP43,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TNFAIP6,TSN,TTL,TUBA3D,TUBA3E,UBXN4,UGGT1,UPP2,UXS1,WASH2P,WDR33,WDSUB1,WTH3DI,YSK4,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZRANB3 chr2 102700000 243199373 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD30BL,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf27A,C2orf27B,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CIR1,CKAP2L,CLASP1,CLK1,CNPPD1,CNTNAP5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,IWS1,KANSL1L,KBTBD10,KCNE4,KCNH7,KCNJ13,KCNJ3,KCTD18,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728323,LOC729121,LOC84931,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MALL,MAP2,MAP3K2,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MIR663B,MIR933,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL44,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMUR1,NOP58,NOSTRIN,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,RFTN2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBR1,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZRANB3,ZSWIM2 chr2 102700097 102719769 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 102700106 102719745 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 102700106 102719745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 102700106 102719745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 102705006 102705106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 102718764 102718859 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 102719799 102800311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL1R1 chr2 102719799 102800311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL1R1 chr2 102730526 102730626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 102744921 102800570 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 IL1R1 chr2 102744922 102800310 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IL1R1 chr2 102792184 102811831 Gain and loss Pancreatic cancer SNP array 17952125 IL1R1,IL1RL2 chr2 102826098 102826198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL1RL2 chr2 102837053 102892388 Gain and loss Pancreatic cancer SNP array 17952125 IL1RL2 chr2 102870853 102871016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 102875797 102875829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10292001 10299000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf48 chr2 102933160 102978188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL1RL1 chr2 102984449 102985026 Gain and loss Pancreatic cancer SNP array 17952125 IL18R1 chr2 102986881 102987204 Gain and loss Pancreatic cancer SNP array 17952125 IL18R1 chr2 10299001 10490500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf48,HPCAL1,MIR4261 chr2 103010585 103853804 LOH Normal High-resolution SNP genotyping 21211785 IL18R1,IL18RAP,MFSD9,MIR4772,SLC9A2,SLC9A4,TMEM182 chr2 103016644 103016721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10308365 10308465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf48 chr2 103139029 103538806 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MFSD9,SLC9A2,SLC9A4,TMEM182 chr2 103272150 103934538 LOH Normal High-resolution SNP genotyping 21211785 MFSD9,SLC9A2,TMEM182 chr2 103313865 103313958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A2 chr2 103322347 103368026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MFSD9,SLC9A2 chr2 103350775 104439474 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 MFSD9,TMEM182 chr2 10353624 10353757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 103553373 103553568 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 10360491 10485193 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HPCAL1 chr2 10360491 10485193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPCAL1 chr2 10360491 10485193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPCAL1 chr2 103612719 103612819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10368801 10462176 Gain and loss Pancreatic cancer SNP array 17952125 HPCAL1 chr2 103694383 103695196 Loss Normal 244K array 17666407 NOT_FOUND chr2 103698576 103698824 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 103731308 103775873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 103735805 103735885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 103765786 103810567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 10376689 10651141 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-320K arrays 21546498 HPCAL1,ODC1,SNORA80B chr2 10378156 10378230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10378365 10878848 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 ATP6V1C2,HPCAL1,NOL10,ODC1,SNORA80B chr2 103835870 103837749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 10386771 10386904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 103897576 103897676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 103926907 103927018 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 10393638 10518340 Gain and loss Pancreatic cancer SNP array 17952125 HPCAL1 chr2 103941075 105439903 LOH Normal High-resolution SNP genotyping 21211785 LOC100287010,LOC100506421,LOC150568,LOC284998 chr2 103941075 105442687 LOH Normal High-resolution SNP genotyping 21211785 LOC100287010,LOC100506421,LOC150568,LOC284998 chr2 103953833 103953933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 103991729 103991829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10401763 10430896 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr2 104052123 104218620 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 104122546 104183834 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr2 104154109 104187874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 104205568 104205874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 104280759 104280859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104294545 104294645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104337867 115237205 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-344K arrays 21546498 ACOXL,ACTR3,ANAPC1,BCL2L11,BUB1,C2orf40,C2orf49,CBWD2,CCDC138,CHCHD5,CKAP2L,DDX11L2,DPP10,EDAR,FAM138B,FBLN7,FHL2,FLJ42351,FOXD4L1,GCC2,GPR45,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100287010,LOC100288570,LOC100499194,LOC100506421,LOC100507334,LOC150568,LOC151009,LOC284998,LOC285000,LOC440894,LOC440895,LOC440900,LOC541471,LOC654433,LOC729121,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4782,MRPS9,NCK2,NPHP1,PAX8,PLGLA,POLR1B,POU3F3,PSD4,RABL2A,RANBP2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RPL23AP7,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SOWAHC,ST6GAL2,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TGFBRAP1,TMEM87B,TTL,UXS1,WASH2P,ZC3H6,ZC3H8 chr2 10441538 10720612 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-360K arrays 21546498 HPCAL1,NOL10,ODC1,SNORA80B chr2 104424252 104424286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104496481 104496552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 104515663 104515874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 104534320 105010580 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100287010 chr2 104551705 104551783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 104551707 104551810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 104589472 104589554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104607749 104607960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 104607749 104607961 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 104643530 104643596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104700325 104700425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104716124 104716252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 10472127 10494218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HPCAL1 chr2 104754173 104754497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 104776885 104776985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104808210 104808338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 104838401 104839903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 104838401 104839903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 104843722 104843822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104846247 104846718 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 104848440 104881435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 10490501 10494000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPCAL1 chr2 104906643 104906743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 104930487 104931989 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 10494001 10618500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HPCAL1,ODC1,SNORA80B chr2 104945375 105499895 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 LOC100287010,LOC100506421,LOC150568,LOC284998,POU3F3 chr2 10497959 10505904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPCAL1 chr2 10497959 10505904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPCAL1 chr2 10497992 10506053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HPCAL1 chr2 105020335 105022186 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100287010 chr2 105020520 105055464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100287010,LOC150568 chr2 105020938 105082849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100287010,LOC150568 chr2 105020938 105082849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100287010,LOC150568 chr2 10504291 10504426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPCAL1 chr2 105052885 105052985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC150568 chr2 105113024 105174935 Gain and loss Pancreatic cancer SNP array 17952125 LOC150568 chr2 10511446 10513129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPCAL1 chr2 105132416 105132488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 105139971 105450160 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC100506421,LOC284998 chr2 105205223 105786835 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100506421,LOC284998,MRPS9,POU3F3 chr2 105205223 105859623 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPR45,LOC100506421,LOC284998,MRPS9,POU3F3 chr2 105224632 105226356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 105224632 105226356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 105248138 105248500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 105249974 105312561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 105249974 105312561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 10528100 10528200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPCAL1 chr2 105304256 105304398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10531106 10539051 Gain and loss Pancreatic cancer SNP array 17952125 HPCAL1 chr2 105316647 105316747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 105316718 105318442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 105320421 105331653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 105320421 105331653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 10532565 24778632 Deletion Acute myeloid leukemia - 21251322 APOB,ATAD2B,ATP6V1C2,C2orf43,C2orf44,C2orf50,DDX1,E2F6,FAM228A,FAM228B,FAM49A,FAM84A,FKBP1B,FLJ12334,FLJ33534,GDF7,GEN1,GREB1,HPCAL1,HS1BP3,ITSN2,KCNF1,KCNS3,KLHL29,LAPTM4A,LINC00570,LOC100506474,LOC645949,LPIN1,MATN3,MFSD2B,MIR3125,MIR4262,MIR4429,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NOL10,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,PDIA6,PFN4,PQLC3,PUM2,RAD51AP2,RDH14,RHOB,ROCK2,SDC1,SF3B14,SMC6,SNORA80B,TP53I3,TRIB2,TTC32,UBXN2A,VSNL1,WDR35 chr2 105331075 105331416 Copy number Ewing's sarcoma Array CGH 19144156 NOT_FOUND chr2 105340224 105340586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 105340601 105421392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC284998 chr2 105340601 105421392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC284998 chr2 105342060 105383296 Gain and loss Pancreatic cancer SNP array 17952125 LOC284998 chr2 105367043 105367143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC284998 chr2 10537438 10537570 Gain and loss Pancreatic cancer SNP array 17952125 HPCAL1 chr2 105377232 105377312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 105412529 105423739 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506421 chr2 105435803 105513470 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506421,POU3F3 chr2 105455509 106436240 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C2orf49,FHL2,GPR45,LOC100506421,LOC285000,MRPS9,NCK2,POU3F3,TGFBRAP1 chr2 105487801 106998923 Copy number Normal Quantitative Real-Time PCR 17666543 C2orf40,C2orf49,FHL2,GPR45,LOC285000,MRPS9,NCK2,PLGLA,TGFBRAP1,UXS1 chr2 105499662 105499721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 105516168 105516268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 105532257 105532330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10555841 10555923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPCAL1 chr2 105613160 106458348 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C2orf49,FHL2,GPR45,LOC285000,MRPS9,NCK2,TGFBRAP1 chr2 105714544 105717643 Loss Normal Birdsuite, version 1.5.2 22087296 MRPS9 chr2 10571797 10571885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 105724238 105724338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 105725590 105758385 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 105727786 105877137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR45 chr2 105727786 105877137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR45 chr2 105787973 105803566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 105804626 105804744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 105805179 105807161 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 105865912 105866276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 105926838 105969242 Gain and loss Pancreatic cancer SNP array 17952125 C2orf49,TGFBRAP1 chr2 105957998 105958362 Gain and loss Pancreatic cancer SNP array 17952125 C2orf49 chr2 105969283 105969368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 105992422 105992522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHL2 chr2 106000000 107500000 Deletion Mental retardation Affymetrix GeneChip Human Mapping 250K Nsp Array 18854857 C2orf40,FHL2,LOC285000,NCK2,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 106025878 106791584 LOH Normal High-resolution SNP genotyping 21211785 C2orf40,FHL2,LOC285000,NCK2,UXS1 chr2 106046182 106061043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FHL2 chr2 106046182 106061043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHL2 chr2 106061461 106062729 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 106061510 106062326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 106076191 106177227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 106076191 106177227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 106140631 106153126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 106162944 106163165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 106163187 106163303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 106168278 106269313 Gain and loss Pancreatic cancer SNP array 17952125 LOC285000 chr2 106190084 109173575 Duplication Schizophrenia PennCNV software 19197363 C2orf40,GCC2,LIMS1,LOC285000,LOC729121,NCK2,PLGLA,RGPD3,RGPD4,SLC5A7,ST6GAL2,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,UXS1 chr2 10619971 10622306 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 106211619 106211719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285000 chr2 106213129 106213209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285000 chr2 106230259 106230631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 106232909 107873857 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 C2orf40,NCK2,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 106239168 106247145 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 106240265 107911722 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 C2orf40,NCK2,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 106240265 107911722 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-310K arrays 21546498 C2orf40,NCK2,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 106244001 106254200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 106245033 107807545 Deletion Obesity Illumina SNP array 20622171 C2orf40,NCK2,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 106245723 106252240 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 106245723 106252240 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 106245990 106247147 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 106245990 106252341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 106246513 106252930 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 106246527 106251789 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 106247145 106251789 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 106247145 106251789 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 106247145 106251789 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 106247145 106251789 Loss or gain Bone size SNP 6.0 Array 21789208 NOT_FOUND chr2 106247154 106252347 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 106248054 106253686 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 106251789 106253840 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 106258348 106258432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10626871 10627427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 106278556 107908477 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-379K arrays 21546498 C2orf40,NCK2,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 10628345 10747549 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOL10 chr2 10628345 10747549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOL10 chr2 10628345 10747549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL10 chr2 106283814 106283914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 106296960 106297061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 106301484 106931248 Duplication Normal Affymetrix 6.0 microarrays 20967226 C2orf40,NCK2,UXS1 chr2 10631072 10631172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 106322345 106322717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 106329686 106364348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCK2 chr2 106334765 106347319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 106360479 106497483 Substitutions and indels small cell lung cancer array-CGH 20016488 NCK2 chr2 106363794 106364027 Gain and loss Pancreatic cancer SNP array 17952125 NCK2 chr2 106364994 106374599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCK2 chr2 106364994 106374599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCK2 chr2 106387878 106451264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCK2 chr2 106387878 106451264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCK2 chr2 106398053 106398153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCK2 chr2 106398565 106400995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCK2 chr2 106429139 106429239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCK2 chr2 106441000 106465000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NCK2 chr2 106452687 106452791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCK2 chr2 106457078 106482623 Gain and loss Pancreatic cancer SNP array 17952125 NCK2 chr2 106465000 106543360 Duplication Non-syndromic sensorineural hearing loss References 19212409 NCK2 chr2 106466264 106543339 Gain and loss Pancreatic cancer SNP array 17952125 NCK2 chr2 106469501 106471500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCK2 chr2 106470265 106487501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCK2 chr2 106470265 106487501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCK2 chr2 1065032 1065095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 106503603 107801691 Substitutions and indels small cell lung cancer array-CGH 20016488 C2orf40,NCK2,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 106539650 106539750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 106552401 106552643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 106556577 106591300 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr2 106562351 106582627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 106565950 108156516 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf40,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 106585436 106585622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 106612485 106627698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 10661492 10780696 Gain and loss Pancreatic cancer SNP array 17952125 NOL10 chr2 106680219 106681564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 106680219 106681564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 106681416 106681503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 106691974 107506873 LOH Normal High-resolution SNP genotyping 21211785 C2orf40,PLGLA,RGPD3,ST6GAL2,UXS1 chr2 106700000 108600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 LOC729121,PLGLA,RGPD3,RGPD4,ST6GAL2,UXS1 chr2 106700000 108600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 LOC729121,PLGLA,RGPD3,RGPD4,ST6GAL2,UXS1 chr2 106700000 108600000 Gain Barrett's adenocarcinoma FISH 18663352 LOC729121,PLGLA,RGPD3,RGPD4,ST6GAL2,UXS1 chr2 106726409 106726466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UXS1 chr2 1067361 1067461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 106744064 106744164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UXS1 chr2 106772305 106773650 Gain and loss Pancreatic cancer SNP array 17952125 UXS1 chr2 106784492 106869996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UXS1 chr2 106784492 106869996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UXS1 chr2 106876578 106962068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 107009935 109035513 LOH Normal High-resolution SNP genotyping 21211785 LOC729121,RGPD3,RGPD4,SLC5A7,ST6GAL2,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 chr2 107032020 107076733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGPD3 chr2 107056558 107220149 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RGPD3 chr2 10708917 10708971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10711840 10711922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOL10 chr2 107216252 107260923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 107265616 107270253 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 107292814 107293154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 107383041 107385748 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 10749115 10749408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL10 chr2 10749115 10749411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL10 chr2 107500000 169500000 Copy number Benign familial neonatal-infantile seizures - 18472482 ACMSD,ACOXL,ACTR3,ACVR1,ACVR1C,ACVR2A,AMMECR1L,ANAPC1,ANKRD30BL,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,B3GALT1,BAZ2B,BCL2L11,BIN1,BUB1,C1QL2,C2orf27A,C2orf27B,C2orf76,CACNB4,CBWD2,CCDC115,CCDC138,CCDC148,CCDC148-AS1,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CD302,CERS6,CFC1,CFC1B,CHCHD5,CKAP2L,CLASP1,CNTNAP5,COBLL1,CSRNP3,CXCR4,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DPP4,EDAR,EN1,EPB41L5,EPC2,ERCC3,ERMN,FAM123C,FAM138B,FAM168B,FAP,FBLN7,FIGN,FLJ42351,FMNL2,FOXD4L1,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCG,GLI2,GPD2,GPR148,GPR17,GPR39,GRB14,GTDC1,GYPC,HNMT,HS6ST1,IFIH1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INSIG2,ITGB6,IWS1,KCNH7,KCNJ3,KIF5C,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100129961,LOC100131320,LOC100144595,LOC100216479,LOC100288570,LOC100499194,LOC100506124,LOC100506134,LOC100507334,LOC100507600,LOC150776,LOC151009,LOC254128,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC541471,LOC646743,LOC647012,LOC654433,LOC729121,LOC84931,LRP1B,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MALL,MAP3K2,MARCH7,MARCO,MBD5,MCM6,MERTK,MGAT5,MIR128-1,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4773-1,MIR4773-2,MIR4774,MIR4782,MIR4783,MIR4784,MIR4785,MIR663B,MKI67IP,MMADHC,MYO7B,MZT2A,MZT2B,NCKAP5,NEB,NMI,NPHP1,NR4A2,NXPH2,ORC4,PABPC1P2,PAX8,PCDP1,PKP4,PLA2R1,PLEKHB2,POLR1B,POLR2D,POTEE,POTEF,PROC,PRPF40A,PSD4,PSMD14,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RBM43,RBMS1,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RND3,RNU4ATAC,RNU6-81,RPL23AP7,RPRM,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCTR,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC38A11,SLC4A10,SLC5A7,SMPD4,SNORA70F,SOWAHC,SPOPL,ST6GAL2,STAM2,STEAP3,STK39,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TANC1,TANK,TBR1,TFCP2L1,THSD7B,TISP43,TMEM163,TMEM177,TMEM185B,TMEM37,TMEM87B,TNFAIP6,TSN,TTC21B,TTL,TUBA3D,TUBA3E,UBXN4,UGGT1,UPP2,WASH2P,WDR33,WDSUB1,WTH3DI,XIRP2,YSK4,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZRANB3 chr2 107500000 169500000 Copy number myoclonus epilepsy - 18472482 ACMSD,ACOXL,ACTR3,ACVR1,ACVR1C,ACVR2A,AMMECR1L,ANAPC1,ANKRD30BL,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,B3GALT1,BAZ2B,BCL2L11,BIN1,BUB1,C1QL2,C2orf27A,C2orf27B,C2orf76,CACNB4,CBWD2,CCDC115,CCDC138,CCDC148,CCDC148-AS1,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CD302,CERS6,CFC1,CFC1B,CHCHD5,CKAP2L,CLASP1,CNTNAP5,COBLL1,CSRNP3,CXCR4,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DPP4,EDAR,EN1,EPB41L5,EPC2,ERCC3,ERMN,FAM123C,FAM138B,FAM168B,FAP,FBLN7,FIGN,FLJ42351,FMNL2,FOXD4L1,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCG,GLI2,GPD2,GPR148,GPR17,GPR39,GRB14,GTDC1,GYPC,HNMT,HS6ST1,IFIH1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INSIG2,ITGB6,IWS1,KCNH7,KCNJ3,KIF5C,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100129961,LOC100131320,LOC100144595,LOC100216479,LOC100288570,LOC100499194,LOC100506124,LOC100506134,LOC100507334,LOC100507600,LOC150776,LOC151009,LOC254128,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC541471,LOC646743,LOC647012,LOC654433,LOC729121,LOC84931,LRP1B,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MALL,MAP3K2,MARCH7,MARCO,MBD5,MCM6,MERTK,MGAT5,MIR128-1,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4773-1,MIR4773-2,MIR4774,MIR4782,MIR4783,MIR4784,MIR4785,MIR663B,MKI67IP,MMADHC,MYO7B,MZT2A,MZT2B,NCKAP5,NEB,NMI,NPHP1,NR4A2,NXPH2,ORC4,PABPC1P2,PAX8,PCDP1,PKP4,PLA2R1,PLEKHB2,POLR1B,POLR2D,POTEE,POTEF,PROC,PRPF40A,PSD4,PSMD14,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RBM43,RBMS1,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RND3,RNU4ATAC,RNU6-81,RPL23AP7,RPRM,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCTR,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC38A11,SLC4A10,SLC5A7,SMPD4,SNORA70F,SOWAHC,SPOPL,ST6GAL2,STAM2,STEAP3,STK39,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TANC1,TANK,TBR1,TFCP2L1,THSD7B,TISP43,TMEM163,TMEM177,TMEM185B,TMEM37,TMEM87B,TNFAIP6,TSN,TTC21B,TTL,TUBA3D,TUBA3E,UBXN4,UGGT1,UPP2,WASH2P,WDR33,WDSUB1,WTH3DI,XIRP2,YSK4,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZRANB3 chr2 107500000 169500000 Loss Diffuse large b-cell lymphoma QMPSF assay 18287131 ACMSD,ACOXL,ACTR3,ACVR1,ACVR1C,ACVR2A,AMMECR1L,ANAPC1,ANKRD30BL,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,B3GALT1,BAZ2B,BCL2L11,BIN1,BUB1,C1QL2,C2orf27A,C2orf27B,C2orf76,CACNB4,CBWD2,CCDC115,CCDC138,CCDC148,CCDC148-AS1,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CD302,CERS6,CFC1,CFC1B,CHCHD5,CKAP2L,CLASP1,CNTNAP5,COBLL1,CSRNP3,CXCR4,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DPP4,EDAR,EN1,EPB41L5,EPC2,ERCC3,ERMN,FAM123C,FAM138B,FAM168B,FAP,FBLN7,FIGN,FLJ42351,FMNL2,FOXD4L1,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCG,GLI2,GPD2,GPR148,GPR17,GPR39,GRB14,GTDC1,GYPC,HNMT,HS6ST1,IFIH1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INSIG2,ITGB6,IWS1,KCNH7,KCNJ3,KIF5C,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100129961,LOC100131320,LOC100144595,LOC100216479,LOC100288570,LOC100499194,LOC100506124,LOC100506134,LOC100507334,LOC100507600,LOC150776,LOC151009,LOC254128,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC541471,LOC646743,LOC647012,LOC654433,LOC729121,LOC84931,LRP1B,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MALL,MAP3K2,MARCH7,MARCO,MBD5,MCM6,MERTK,MGAT5,MIR128-1,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4773-1,MIR4773-2,MIR4774,MIR4782,MIR4783,MIR4784,MIR4785,MIR663B,MKI67IP,MMADHC,MYO7B,MZT2A,MZT2B,NCKAP5,NEB,NMI,NPHP1,NR4A2,NXPH2,ORC4,PABPC1P2,PAX8,PCDP1,PKP4,PLA2R1,PLEKHB2,POLR1B,POLR2D,POTEE,POTEF,PROC,PRPF40A,PSD4,PSMD14,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RBM43,RBMS1,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RND3,RNU4ATAC,RNU6-81,RPL23AP7,RPRM,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCTR,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC38A11,SLC4A10,SLC5A7,SMPD4,SNORA70F,SOWAHC,SPOPL,ST6GAL2,STAM2,STEAP3,STK39,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TANC1,TANK,TBR1,TFCP2L1,THSD7B,TISP43,TMEM163,TMEM177,TMEM185B,TMEM37,TMEM87B,TNFAIP6,TSN,TTC21B,TTL,TUBA3D,TUBA3E,UBXN4,UGGT1,UPP2,WASH2P,WDR33,WDSUB1,WTH3DI,XIRP2,YSK4,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZRANB3 chr2 107548195 107548295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 107551102 107551195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 107608053 108856048 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC729121,RGPD4,SLC5A7 chr2 107620824 107620914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 107635017 107635101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 107643533 107643605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 107749549 109064998 LOH Normal High-resolution SNP genotyping 21211785 LOC729121,RGPD4,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 chr2 10779226 10842679 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOL10 chr2 10779226 10842679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOL10 chr2 10779226 10842679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL10 chr2 107806599 107890431 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr2 107808765 107906981 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr2 107809251 107815250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 107809825 107873729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 1078101 1082100 Deletion Glioma mate-paired sequence 20126413 SNTG2 chr2 10782262 10782555 Gain and loss Pancreatic cancer SNP array 17952125 NOL10 chr2 107897800 107898183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 107898337 107898412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 107901911 107965808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 107902510 107902610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 107908395 108437172 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 107908923 110120859 Substitutions and indels small cell lung cancer array-CGH 20016488 CCDC138,EDAR,GCC2,LIMS1,LOC729121,MIR4265,MIR4266,RANBP2,RGPD4,SH3RF3,SH3RF3-AS1,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 chr2 1079572 1079775 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 SNTG2 chr2 107969411 107996873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 107969411 107996873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 107989895 107990269 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 108061513 108088959 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 10813545 10875826 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1C2,NOL10 chr2 108137329 108137429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 108145103 108145203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 10818001 10836500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOL10 chr2 108220001 108224700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 108221842 108222686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 108221850 108222694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 108230083 108248239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108230083 108248239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108239189 108245113 Loss Normal 244K array 17666407 NOT_FOUND chr2 108266330 109288895 LOH Normal High-resolution SNP genotyping 21211785 GCC2,LIMS1,LOC729121,RGPD4,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 chr2 108271527 108292802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108271527 108292802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108312951 109411856 LOH Normal High-resolution SNP genotyping 21211785 CCDC138,GCC2,LIMS1,LOC729121,RANBP2,RGPD4,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 chr2 108322199 108340325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 10834915 10834971 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 108354067 108354160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 108360853 108373099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108360853 108373099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108363613 108384888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 108399819 108399919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1084074 1084174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 10840967 10895554 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ATP6V1C2 chr2 10840970 10895554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP6V1C2 chr2 10840970 10895554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP6V1C2 chr2 108432063 108492286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC729121,RGPD4 chr2 108432063 108492286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729121,RGPD4 chr2 108439132 108439185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 108452939 108462788 Gain and loss Pancreatic cancer SNP array 17952125 RGPD4 chr2 108470940 108473220 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RGPD4 chr2 108490437 108517084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGPD4 chr2 108490437 108517084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD4 chr2 108492643 108517107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD4 chr2 108495111 108526552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RGPD4 chr2 108517310 108667321 Gain or loss Breast cancer - 20668451 SLC5A7 chr2 108517310 108667321 Gain or loss Cancer - 20668451 SLC5A7 chr2 108517310 108667321 Gain or loss Lung cancer - 20668451 SLC5A7 chr2 108517310 108667321 Gain or loss Ovarian cancer - 20668451 SLC5A7 chr2 108517310 108667321 Gain or loss Pancreas cancer - 20668451 SLC5A7 chr2 108517310 108667321 Gain or loss Prostate cancer - 20668451 SLC5A7 chr2 108524154 108584372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 108558497 108558597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 108571199 108670134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC5A7 chr2 108571199 108670134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC5A7 chr2 108582528 108609170 Gain and loss Pancreatic cancer SNP array 17952125 SLC5A7 chr2 108600000 113800000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Copy number Normal - 21701786 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Copy number Ocular motor apraxia Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Deletion Congenital abnormalities BAC array CGH platform 21549014 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Deletion Developmental delay BAC array CGH platform 21549014 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Deletion Idiopathic chronic pancreatitis BAC array CGH platform 21549014 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Deletion Mental retardation BAC array CGH platform 21549014 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Loss Maculopathy Human Mapping 500K Array and SNP Array 5.0 20981449 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108600000 113800000 Microdeletion Nephronophthisis aCGH 22470819 ACOXL,ANAPC1,BCL2L11,BUB1,CCDC138,CHCHD5,CKAP2L,EDAR,FBLN7,FLJ42351,GCC2,IL1A,IL1B,IL36A,IL36B,IL36G,IL37,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,MALL,MERTK,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,POLR1B,RANBP2,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SOWAHC,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 108601070 108601162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 108609397 108759405 Gain and loss Pancreatic cancer SNP array 17952125 SLC5A7 chr2 108676757 108678691 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 108676986 108678541 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 108695875 108695955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 108702368 108768699 Copy number Lung cancer - 20668451 NOT_FOUND chr2 108702368 108768699 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 108702368 108768699 Gain or loss Cancer - 20668451 NOT_FOUND chr2 108702368 108768699 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 108702368 108768699 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 108702368 108768699 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 108702368 108768699 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 108702369 108768699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108702369 108768699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108721000 108758610 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr2 10874117 10903558 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1C2 chr2 108769645 108859466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108769645 108859466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 108793000 108849345 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr2 108793380 109105882 Copy number Normal Quantitative Real-Time PCR 17666543 GCC2,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 chr2 108794455 108859769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 1088069 1088153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 10886001 10893500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V1C2 chr2 108861737 108951365 Gain and loss Pancreatic cancer SNP array 17952125 SULT1C2,SULT1C2P1,SULT1C3 chr2 108870439 108870513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SULT1C3 chr2 108874501 109356500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GCC2,LIMS1,RANBP2,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 chr2 108877359 108972260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SULT1C2,SULT1C2P1,SULT1C3 chr2 108877359 108972260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SULT1C2,SULT1C2P1,SULT1C3 chr2 108878885 108913372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SULT1C2,SULT1C3 chr2 10893501 10969000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V1C2,PDIA6 chr2 108969452 109064346 Gain and loss Pancreatic cancer SNP array 17952125 SULT1C2P1,SULT1C4 chr2 10898591 10981135 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 ATP6V1C2,PDIA6 chr2 109002134 109002218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SULT1C4 chr2 109003234 109398020 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 GCC2,LIMS1,RANBP2,SULT1C4 chr2 109056662 109061563 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 10906209 10906269 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1C2 chr2 109087346 109087446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCC2 chr2 109112428 109616530 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 CCDC138,EDAR,GCC2,LIMS1,RANBP2 chr2 109356501 109644000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC138,EDAR,RANBP2 chr2 109381463 109616530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC138,EDAR,RANBP2 chr2 109419203 109419892 Gain and loss Pancreatic cancer SNP array 17952125 CCDC138 chr2 109473549 109616616 Gain and loss Pancreatic cancer SNP array 17952125 CCDC138,EDAR chr2 109508488 109543273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EDAR chr2 109565947 109566047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EDAR chr2 109613966 109614065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 109646748 109690996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 10965017 10965281 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 109657669 109729072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 109657669 109729072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 109657753 109729158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 10969001 10983500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 10969514 10971801 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 10969514 10971801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 10969514 10971801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 109728001 109729500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 109729200 109733852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 109729200 109733852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 109729286 109733938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 109729501 109730500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 109784501 109786500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SH3RF3 chr2 109798784 111321150 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,MALL,MIR4266,MIR4267,MIR4436B1,MIR4436B2,NPHP1,RGPD5,RGPD6,SEPT10,SH3RF3,SOWAHC chr2 109800216 109804879 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SH3RF3 chr2 109815348 109815448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr2 10983016 10983127 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 10983501 11228000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNF1 chr2 109844487 109880222 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 SH3RF3 chr2 109845501 110172750 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4266,SH3RF3 chr2 109852002 109852385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF3 chr2 109852088 109852462 Gain and loss Pancreatic cancer SNP array 17952125 SH3RF3 chr2 109886845 110481384 Copy number Normal Quantitative Real-Time PCR 17666543 MIR4266,SEPT10,SH3RF3,SOWAHC chr2 109889035 109889123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr2 109895620 109895715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr2 109897951 109898006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr2 109907624 109972551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4266,SH3RF3 chr2 109909341 109972637 Gain and loss Pancreatic cancer SNP array 17952125 MIR4266,SH3RF3 chr2 109926906 109972493 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 MIR4266,SH3RF3 chr2 109935493 109935563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr2 109967236 109967334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr2 10999291 10999646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 10000000 12300000 Gain Schizophrenia Affymetrix 6.0 array 21399695 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE chr2 110004061 110045149 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 SH3RF3 chr2 110004360 110043699 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 SH3RF3 chr21 10009191 10105624 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 NOT_FOUND chr21 10012001 10014000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 110013298 110030787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF3 chr2 110013643 110021406 Gain and loss Pancreatic cancer SNP array 17952125 SH3RF3 chr21 10014001 10042000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 10021367 10024517 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 10023842 10197104 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 10023842 10197104 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 10023882 10148059 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 10023882 10195652 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 10024517 10039978 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 11002661 11004948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 10030000 10148059 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 10030000 10185786 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 10039978 10085414 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 10039984 46924583 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 110040419 110090723 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SH3RF3 chr21 10042001 10054500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 10042713 10120608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 10042713 10120608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 110045447 110045535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr21 10048371 10203360 Gain Normal TaqMan assays 20972442 NOT_FOUND chr2 110050731 110558272 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RGPD5,RGPD6,SEPT10,SH3RF3,SOWAHC chr2 110050731 110558272 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RGPD5,RGPD6,SEPT10,SH3RF3,SOWAHC chr21 10054501 13291750 Copy number Normal ReadDepth: A Parallel R Package 21305028 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE chr21 10055561 10061108 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr21 10058037 10058603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 110060658 110338727 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SEPT10,SH3RF3 chr2 110060658 110430402 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SEPT10,SH3RF3,SOWAHC chr2 110060658 110430402 Copy number gain Normal High-resolution SNP genotyping 21211785 SEPT10,SH3RF3,SOWAHC chr21 10061131 10148059 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 10061131 10195652 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 10061131 10195652 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 110061321 110173878 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 SH3RF3 chr2 110061321 110519397 Duplication Normal Affymetrix 6.0 microarrays 20967226 SEPT10,SH3RF3,SOWAHC chr2 110061321 110603665 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RGPD5,RGPD6,SEPT10,SH3RF3,SOWAHC chr21 10064717 13492170 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE chr21 10064749 10077180 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 110067390 110067448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr21 10071442 10120608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 10074488 10113541 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 10074488 10130007 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 10079666 10120808 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr21 10085414 10197783 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 110091000 110091094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF3 chr21 10092977 13488242 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE chr2 110102015 110111092 Gain and loss Pancreatic cancer SNP array 17952125 SH3RF3 chr2 110103138 110111006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF3 chr21 10103743 10139216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 10106540 13492158 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE chr2 110108526 110111006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF3 chr21 10113335 10138738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 10117898 10144936 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 NOT_FOUND chr2 110122621 110125737 Gain and loss Pancreatic cancer SNP array 17952125 SH3RF3 chr2 110125519 110340958 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 SEPT10,SH3RF3 chr21 10126718 10128534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 110147004 110173879 Gain Normal Birdsuite, version 1.5.2 22087296 SH3RF3 chr2 110167952 110510396 Loss Autism Exome sequencing and CGH 22495309 SEPT10,SH3RF3,SOWAHC chr2 110173879 110519409 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SEPT10,SH3RF3,SOWAHC chr21 10175708 10176928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 10179530 10179829 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 110182983 110205963 Substitutions and indels small cell lung cancer array-CGH 20016488 SH3RF3 chr2 110186944 110339819 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 SEPT10,SH3RF3 chr2 1101928 1103803 Copy number Autism exome sequencing 22495311 SNTG2 chr2 110198738 110231432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH3RF3 chr2 110198738 110231432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF3 chr2 110198824 110231518 Gain and loss Pancreatic cancer SNP array 17952125 SH3RF3 chr2 110200000 114400000 Amplification Colorectal cancer PCR 16912164 ACOXL,ANAPC1,BCL2L11,BUB1,CBWD2,CHCHD5,CKAP2L,DDX11L2,FAM138B,FBLN7,FLJ42351,FOXD4L1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,LOC654433,MALL,MERTK,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,PAX8,POLR1B,PSD4,RABL2A,RGPD5,RGPD6,RGPD8,RPL23AP7,SEPT10,SH3RF3,SLC20A1,SOWAHC,TMEM87B,TTL,WASH2P,ZC3H6,ZC3H8 chr2 110200000 114400000 Amplification Ischaemic stroke PCR 16980335 ACOXL,ANAPC1,BCL2L11,BUB1,CBWD2,CHCHD5,CKAP2L,DDX11L2,FAM138B,FBLN7,FLJ42351,FOXD4L1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,LOC654433,MALL,MERTK,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,PAX8,POLR1B,PSD4,RABL2A,RGPD5,RGPD6,RGPD8,RPL23AP7,SEPT10,SH3RF3,SLC20A1,SOWAHC,TMEM87B,TTL,WASH2P,ZC3H6,ZC3H8 chr2 110200000 114400000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 ACOXL,ANAPC1,BCL2L11,BUB1,CBWD2,CHCHD5,CKAP2L,DDX11L2,FAM138B,FBLN7,FLJ42351,FOXD4L1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,LOC654433,MALL,MERTK,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,PAX8,POLR1B,PSD4,RABL2A,RGPD5,RGPD6,RGPD8,RPL23AP7,SEPT10,SH3RF3,SLC20A1,SOWAHC,TMEM87B,TTL,WASH2P,ZC3H6,ZC3H8 chr2 110200000 114400000 Deletion Nephronophthisis Array CGH, and FISH 17901113 ACOXL,ANAPC1,BCL2L11,BUB1,CBWD2,CHCHD5,CKAP2L,DDX11L2,FAM138B,FBLN7,FLJ42351,FOXD4L1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440894,LOC440895,LOC541471,LOC654433,MALL,MERTK,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,NPHP1,PAX8,POLR1B,PSD4,RABL2A,RGPD5,RGPD6,RGPD8,RPL23AP7,SEPT10,SH3RF3,SLC20A1,SOWAHC,TMEM87B,TTL,WASH2P,ZC3H6,ZC3H8 chr2 110200000 129900000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACOXL,ACTR3,AMMECR1L,ANAPC1,BCL2L11,BIN1,BUB1,C1QL2,C2orf76,CBWD2,CCDC93,CHCHD5,CKAP2L,CLASP1,CNTNAP5,CYP27C1,DBI,DDX11L2,DDX18,DPP10,EN1,EPB41L5,ERCC3,FAM138B,FBLN7,FLJ42351,FOXD4L1,GLI2,GPR17,GYPC,HS6ST1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,INHBB,INSIG2,IWS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100499194,LOC100507334,LOC151009,LOC254128,LOC389023,LOC440894,LOC440895,LOC440900,LOC541471,LOC654433,LOC84931,MALL,MAP3K2,MARCO,MERTK,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4782,MIR4783,MKI67IP,MYO7B,NPHP1,PAX8,PCDP1,POLR1B,POLR2D,PROC,PSD4,PTPN4,RABL2A,RALB,RGPD5,RGPD6,RGPD8,RNU4ATAC,RPL23AP7,SAP130,SCTR,SEPT10,SFT2D3,SH3RF3,SLC20A1,SLC35F5,SOWAHC,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37,TMEM87B,TSN,TTL,UGGT1,WASH2P,WDR33,ZC3H6,ZC3H8 chr2 110202479 110335379 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 SEPT10,SH3RF3 chr21 10202791 10203686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 10202860 10203641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 110205175 110337721 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 SEPT10,SH3RF3 chr2 110210117 110618422 Loss Autism 1M Ailent CGH whole-genome array 21865298 RGPD5,RGPD6,SEPT10,SH3RF3,SOWAHC chr2 110212011 131911635 Substitutions and indels small cell lung cancer array-CGH 20016488 ACOXL,ACTR3,AMMECR1L,ANAPC1,ARHGEF4,BCL2L11,BIN1,BUB1,C1QL2,C2orf76,CBWD2,CCDC115,CCDC74B,CCDC74B-AS1,CCDC93,CFC1,CFC1B,CHCHD5,CKAP2L,CLASP1,CNTNAP5,CYP27C1,CYP4F30P,DBI,DDX11L2,DDX18,DPP10,EN1,EPB41L5,ERCC3,FAM123C,FAM138B,FAM168B,FBLN7,FLJ42351,FOXD4L1,GLI2,GPR148,GPR17,GYPC,HS6ST1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INSIG2,IWS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100131320,LOC100216479,LOC100288570,LOC100499194,LOC100507334,LOC151009,LOC254128,LOC389023,LOC389033,LOC440894,LOC440895,LOC440900,LOC440905,LOC541471,LOC646743,LOC654433,LOC84931,MALL,MAP3K2,MARCO,MERTK,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4782,MIR4783,MKI67IP,MYO7B,MZT2B,NPHP1,PAX8,PCDP1,PLEKHB2,POLR1B,POLR2D,POTEF,PROC,PSD4,PTPN18,PTPN4,RAB6C,RABL2A,RALB,RGPD5,RGPD6,RGPD8,RNU4ATAC,RPL23AP7,SAP130,SCTR,SEPT10,SFT2D3,SH3RF3,SLC20A1,SLC35F5,SMPD4,SOWAHC,STEAP3,TFCP2L1,TISP43,TMEM177,TMEM185B,TMEM37,TMEM87B,TSN,TTL,TUBA3E,UGGT1,WASH2P,WDR33,ZC3H6,ZC3H8 chr2 110212825 110335379 Duplication Normal Affymetrix 6.0 microarrays 20967226 SEPT10,SH3RF3 chr2 110215501 110219000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SH3RF3 chr2 110225049 110269831 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SH3RF3 chr2 110234426 110337721 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 SEPT10,SH3RF3 chr2 110237195 110319908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPT10,SH3RF3 chr2 110237195 110319908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT10,SH3RF3 chr2 110237281 110319969 Gain and loss Pancreatic cancer SNP array 17952125 SEPT10,SH3RF3 chr2 110241598 110241690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF3 chr2 110299041 110300103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 110314047 110314147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEPT10 chr2 110320011 110320111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEPT10 chr2 110326395 110337806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPT10 chr2 110326395 110337806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT10 chr2 110327307 110327723 Gain and loss Pancreatic cancer SNP array 17952125 SEPT10 chr2 110342773 110348620 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SEPT10 chr2 110357934 110358027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEPT10 chr2 11041515 111117750 Copy number Normal Quantitative Real-Time PCR 17666543 AAK1,ABCG5,ABCG8,ABHD1,ACTG2,ACTR1B,ACTR2,ACTR3BP2,ACYP2,ADCY3,ADD2,ADRA2B,AFF3,AFTPH,AGBL5,AHSA2,ALK,ALMS1,ALMS1P,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ARID5A,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf15,C2orf16,C2orf18,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf49,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC138,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CHST10,CIAO1,CIB4,CLEC4F,CLHC1,CLIP4,CNGA3,CNNM3,CNNM4,CNRIP1,COA5,COMMD1,COX5B,COX7A2L,CREG2,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP2,DYNC2LI1,DYSF,E2F6,EDAR,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM136A,FAM161A,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCC2,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPAT2,GPN1,GPR113,GPR45,GPR75,GPR75-ASB3,GREB1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HS1BP3,HTRA2,IFT172,IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,IMMT,INO80B,INO80B-WBP1,INPP4A,ITPRIPL1,ITSN2,KANSL3,KCMF1,KCNF1,KCNG3,KCNIP3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1211L,KIAA1841,KIF3C,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00486,LINC00570,LIPT1,LMAN2L,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506123,LOC100506421,LOC100506474,LOC100507334,LOC100630918,LOC150568,LOC1720,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC440894,LOC440895,LOC442028,LOC644838,LOC645949,LOC654342,LOC728537,LOC728730,LOC728819,LOC729121,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,LYG1,LYG2,MAL,MALL,MAP4K3,MAP4K4,MAPRE3,MAT2A,MATN3,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MFSD9,MGAT4A,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3127,MIR3682,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4757,MIR4765,MIR4772,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MIR5696,MITD1,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCAPH,NCK2,NCOA1,NEURL3,NFU1,NLRC4,NMS,NOTO,NPAS2,NPHP1,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDCL3,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,POU3F3,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PROM2,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RANBP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RHOB,RHOQ,RMND5A,RNF103,RNF103-CHMP3,RNF149,RNF181,ROCK2,RPIA,RPL23AP32,RPL31,RPS27A,RTKN,RTN4,SDC1,SEMA4C,SEMA4F,SEPT10,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SOWAHC,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,ST6GAL2,STAMBP,STARD7,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUPT7L,TACR1,TBC1D8,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM17,TMEM178A,TMEM182,TMEM214,TMEM247,TMSB10,TP53I3,TPRKB,TRABD2A,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSPYL6,TTC27,TTC31,TTC32,TTC7A,TXNDC9,UBXN2A,UCN,UGP2,UNC50,UNQ6975,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,ZAP70,ZFP36L2,ZNF2,ZNF512,ZNF513,ZNF514,ZNF638 chr2 11044114 11612127 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf50,E2F6,FLJ33534,KCNF1,LINC00570,PQLC3,ROCK2 chr2 110505261 110544145 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NOT_FOUND chr2 110519409 110553259 Gain or loss Normal Birdsuite, version 1.5.2 22087296 RGPD5,RGPD6 chr2 110519501 111079750 Copy number Normal ReadDepth: A Parallel R Package 21305028 LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LOC100288570,LOC100507334,LOC440894,LOC440895,MALL,MIR4267,MIR4436B1,MIR4436B2,NPHP1,RGPD5,RGPD6 chr2 110552807 110555923 Gain and loss Pancreatic cancer SNP array 17952125 RGPD5,RGPD6 chr2 110553259 110603665 Loss Normal Birdsuite, version 1.5.2 22087296 RGPD5,RGPD6 chr2 110567223 110576650 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 RGPD5,RGPD6 chr2 110569013 110569923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD5,RGPD6 chr2 110574935 110575338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD5,RGPD6 chr2 110575021 110575424 Gain and loss Pancreatic cancer SNP array 17952125 RGPD5,RGPD6 chr2 110588011 110634474 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RGPD5,RGPD6 chr2 110647700 110665189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIMS3,LIMS3-LOC440895,LIMS3L chr2 110647700 110665189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMS3,LIMS3-LOC440895,LIMS3L chr2 110657252 110665015 Gain and loss Pancreatic cancer SNP array 17952125 LIMS3,LIMS3-LOC440895,LIMS3L chr2 110705936 110769897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMS3-LOC440895,LOC100288570,LOC440894,LOC440895 chr2 110706022 110769611 Gain and loss Pancreatic cancer SNP array 17952125 LIMS3-LOC440895,LOC100288570,LOC440894,LOC440895 chr2 110706155 110751810 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 LIMS3-LOC440895,LOC100288570,LOC440894,LOC440895 chr21 10785332 10785432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 10810056 10810156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 110826517 110826891 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 110826568 110826951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 10910000 15400000 Loss Breast cancer aCGH 21509527 ANKRD20A11P,ANKRD30BP2,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,C21orf15,MIR3156-3,POTED,TPTE chr2 111012124 111050830 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507334,MIR4436B1,MIR4436B2 chr2 111012128 111052778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507334,MIR4436B1,MIR4436B2 chr2 111012128 111052778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507334,MIR4436B1,MIR4436B2 chr2 111064519 111105390 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 NOT_FOUND chr2 111107738 111108380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 111107738 111108380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 111107764 111108139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 111111643 111151859 Gain and loss Pancreatic cancer SNP array 17952125 LOC151009,LOC440894 chr2 111111880 111152135 Gain or loss Breast cancer - 20668451 LOC151009,LOC440894 chr2 111111880 111152135 Gain or loss Cancer - 20668451 LOC151009,LOC440894 chr2 111111880 111152135 Gain or loss Lung cancer - 20668451 LOC151009,LOC440894 chr2 111111880 111152135 Gain or loss Ovarian cancer - 20668451 LOC151009,LOC440894 chr2 111111880 111152135 Gain or loss Pancreas cancer - 20668451 LOC151009,LOC440894 chr2 111111880 111152135 Gain or loss Prostate cancer - 20668451 LOC151009,LOC440894 chr2 111111881 111152135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC151009,LOC440894 chr2 111111881 111152135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC151009,LOC440894 chr21 11112059 11112091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 111142809 112762656 Gain Developmental delay affymetrix genechip 500K/SNP 6.11 array 21147756 ACOXL,ANAPC1,BCL2L11,BUB1,LIMS3,LIMS3-LOC440895,LIMS3L,LOC100288570,LOC440895,LOC541471,MERTK,MIR4435-1,MIR4435-2,RGPD5,RGPD6 chr21 11171145 11171371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 111206442 111568152 Gain and loss Pancreatic cancer SNP array 17952125 ACOXL,BUB1,LIMS3,LIMS3-LOC440895,LIMS3L,RGPD5,RGPD6 chr2 111206680 111568392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOXL,BUB1,LIMS3,LIMS3-LOC440895,LIMS3L,RGPD5,RGPD6 chr2 111206680 111568392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOXL,BUB1,LIMS3,LIMS3-LOC440895,LIMS3L,RGPD5,RGPD6 chr21 1 12300000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr21 1 12300000 Loss Breast cancer aCGH 21264507 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr2 111239345 113544503 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-377K arrays 21546498 ACOXL,ANAPC1,BCL2L11,BUB1,CHCHD5,CKAP2L,FBLN7,FLJ42351,IL1A,LOC541471,MERTK,MIR4435-1,MIR4435-2,POLR1B,RGPD5,RGPD6,RGPD8,SLC20A1,TMEM87B,TTL,ZC3H6,ZC3H8 chr2 11126314 11155373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 111267923 111495488 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ACOXL,BUB1,RGPD5,RGPD6 chr2 111292876 111293109 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGPD5,RGPD6 chr21 1 13307800 Copy number Normal ReadDepth: A Parallel R Package 21305028 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr2 111395408 111435684 Copy number Clear cell renal cell carcinoma Real-time PCR 18791270 BUB1 chr2 111406989 111407068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BUB1 chr2 111437326 111440409 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 11145576 11145675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 111461981 111462013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 111468512 111470088 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 111470014 111470067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 111505062 111667874 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ACOXL chr21 1 153300000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr2 111572400 111576126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOXL chr2 111572400 111576126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOXL chr2 11157428 11189753 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 11157428 11189753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 111591001 111597500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACOXL chr2 111594652 111594737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOXL chr2 111594961 111642493 Gain or loss Breast cancer - 20668451 ACOXL chr2 111594961 111642493 Gain or loss Cancer - 20668451 ACOXL chr2 111594961 111642493 Gain or loss Lung cancer - 20668451 ACOXL chr2 111594961 111642493 Gain or loss Ovarian cancer - 20668451 ACOXL chr2 111594961 111642493 Gain or loss Pancreas cancer - 20668451 ACOXL chr2 111594961 111642493 Gain or loss Prostate cancer - 20668451 ACOXL chr2 111594962 111642493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOXL chr2 111594962 111642493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOXL chr2 111597541 111640814 Gain and loss Pancreatic cancer SNP array 17952125 ACOXL chr2 111598887 111598987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOXL chr2 111616014 112282471 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACOXL,BCL2L11,LOC541471,MIR4435-1,MIR4435-2 chr2 111616014 112282471 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACOXL,BCL2L11,LOC541471,MIR4435-1,MIR4435-2 chr2 111616014 112463168 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ACOXL,BCL2L11,LOC541471,MIR4435-1,MIR4435-2 chr2 111616014 112463168 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACOXL,BCL2L11,LOC541471,MIR4435-1,MIR4435-2 chr2 11164450 11164523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 111649960 111650044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOXL chr2 11166058 11166422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 111684481 111684558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACOXL chr2 11170373 11170490 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 111733751 112223250 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACOXL,BCL2L11,LOC541471,MIR4435-1,MIR4435-2 chr2 111773190 111805900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACOXL chr2 111891317 111922310 Loss Normal 244K array 17666407 BCL2L11 chr2 11189724 11222945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 111900372 112155224 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 BCL2L11,LOC541471,MIR4435-1,MIR4435-2 chr2 111903130 111968848 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L11 chr2 111903370 111969088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L11 chr2 111903370 111969088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L11 chr2 11190630 11203603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 11190630 11204367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11190630 11204367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 111913586 111913686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL2L11 chr2 111913929 112282471 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BCL2L11,LOC541471,MIR4435-1,MIR4435-2 chr2 111913929 112282471 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BCL2L11,LOC541471,MIR4435-1,MIR4435-2 chr2 111955557 111987592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 111980432 111980502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 112091193 112193141 Duplication Schizophrenia NimbleGen HD2 platform 21346763 LOC541471 chr2 112115384 112282471 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC541471 chr2 11212990 11236449 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 11212991 11236447 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 11212991 11236447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11212991 11236447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 1 12200000 Gain Breast cancer Microarray-based CGH 17133270 ACP1,ADAM17,ADI1,ALLC,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,E2F6,FAM110C,FAM150B,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC150622,LOC339788,LOC339822,LOC400940,LOC727982,LOC730811,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,MYT1L,NOL10,NTSR2,ODC1,PDIA6,PQLC3,PXDN,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SH3YL1,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TPO,TRAPPC12,TSSC1,YWHAQ chr2 1 12200000 Loss Mental retardation Array CGH 17847001 ACP1,ADAM17,ADI1,ALLC,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,E2F6,FAM110C,FAM150B,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC150622,LOC339788,LOC339822,LOC400940,LOC727982,LOC730811,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,MYT1L,NOL10,NTSR2,ODC1,PDIA6,PQLC3,PXDN,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SH3YL1,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TPO,TRAPPC12,TSSC1,YWHAQ chr2 112217148 112218473 Gain and loss Pancreatic cancer SNP array 17952125 LOC541471 chr2 11224059 11234835 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 112242873 112357972 Gain and loss Pancreatic cancer SNP array 17952125 LOC541471 chr2 112243113 112358212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC541471 chr2 112243113 112358212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC541471 chr21 12300000 25664043 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCC13,ANKRD20A11P,ANKRD30BP2,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,D21S2088E,HSPA13,LINC00308,LINC00317,LINC00320,LINC00478,LIPI,LOC388813,MIR125B2,MIR3156-3,MIR99A,MIRLET7C,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr21 12300000 25664043 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCC13,ANKRD20A11P,ANKRD30BP2,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,D21S2088E,HSPA13,LINC00308,LINC00317,LINC00320,LINC00478,LIPI,LOC388813,MIR125B2,MIR3156-3,MIR99A,MIRLET7C,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr21 12300000 30500000 Gain T-cell lymphomas 250k GeneChip SNP array 19863542 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,BTG3,C21orf15,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,POTED,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 12300000 46944323 Deletion Medulloblastoma SNP arrays 21979893 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Deletion Non-small cell lung cancer Array comparative genomic hybridization 21044232 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Duplication Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Gain Astrocytoma CGH 17387387 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Gain or loss Endometrial cancer CGH 22040021 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Gain Seminomas CGH, Comparative expressed sequence hybridisation 18059402 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Loss Breast cancer aCGH 21264507 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1165K arrays 21546498 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Loss Glioblastoma multiforme CGH 17387387 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 12300000 46944323 Loss Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 1 23298229 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ABCC13,ANKRD20A11P,ANKRD30BP2,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,HSPA13,LINC00317,LINC00320,LINC00478,LIPI,LOC388813,MIR125B2,MIR3156-3,MIR3648,MIR3687,MIR99A,MIRLET7C,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TEKT4P2,TMPRSS15,TPTE,USP25 chr2 11237111 13284325 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf50,E2F6,FLJ33534,GREB1,LINC00570,LOC100506474,LPIN1,MIR3125,MIR4262,MIR4429,NTSR2,PQLC3,ROCK2,TRIB2 chr2 112372419 112503108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 112372661 112503416 Copy number Lung cancer - 20668451 NOT_FOUND chr2 112372661 112503416 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 112372661 112503416 Gain or loss Cancer - 20668451 NOT_FOUND chr2 112372661 112503416 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 112372661 112503416 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 112372661 112503416 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 112372661 112503416 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 112372662 112503415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 112372662 112503415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11237338 11402162 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C2orf50,FLJ33534,PQLC3,ROCK2 chr2 11237338 11402162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf50,FLJ33534,PQLC3,ROCK2 chr2 11237338 11402162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf50,FLJ33534,PQLC3,ROCK2 chr2 112391671 112400512 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 112404035 112404273 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 112404275 112404513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 112439085 121278033 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACTR3,ANAPC1,C1QL2,C2orf76,CBWD2,CCDC93,CHCHD5,CKAP2L,DBI,DDX11L2,DDX18,DPP10,EN1,EPB41L5,FAM138B,FBLN7,FLJ42351,FOXD4L1,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,INHBB,INSIG2,LOC100499194,LOC389023,LOC440900,LOC654433,LOC84931,MARCO,MERTK,MIR4782,PAX8,PCDP1,POLR1B,PSD4,PTPN4,RABL2A,RALB,RGPD5,RGPD8,RPL23AP7,SCTR,SLC20A1,SLC35F5,STEAP3,TMEM177,TMEM185B,TMEM37,TMEM87B,TTL,WASH2P,ZC3H6,ZC3H8 chr2 112447285 112447435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11246138 11269594 Gain and loss Pancreatic cancer SNP array 17952125 FLJ33534 chr2 112529045 112590861 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC1 chr2 112529285 112591101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANAPC1 chr2 112529285 112591101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC1 chr2 112612193 112662022 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC1,MERTK chr2 112612433 112662262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANAPC1,MERTK chr2 112612433 112662262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC1,MERTK chr2 112655501 112661500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MERTK chr2 112676328 112676428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MERTK chr2 112689673 112728881 Gain and loss Pancreatic cancer SNP array 17952125 MERTK chr2 112689725 112729159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MERTK chr2 112689725 112729159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MERTK chr2 112689910 112729121 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 MERTK chr2 112705763 112705851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MERTK chr2 11272376 11435309 Gain and loss Pancreatic cancer SNP array 17952125 C2orf50,PQLC3,ROCK2 chr2 112749642 112814111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MERTK,TMEM87B chr2 112749642 112814111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MERTK,TMEM87B chr2 112749648 112814111 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 MERTK,TMEM87B chr2 112761193 112766816 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 MERTK chr2 112761193 112766816 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MERTK chr2 112773655 112808055 Gain and loss Pancreatic cancer SNP array 17952125 MERTK chr2 112776406 112776506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MERTK chr2 1 12800000 Loss Glioblastoma multiforme aCGH 21080181 ACP1,ADAM17,ADI1,ALLC,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,E2F6,FAM110C,FAM150B,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC150622,LOC339788,LOC339822,LOC400940,LOC727982,LOC730811,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,MYT1L,NOL10,NTSR2,ODC1,PDIA6,PQLC3,PXDN,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SH3YL1,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TPO,TRAPPC12,TSSC1,YWHAQ chr2 1 12800000 Loss Malignant fibrous histiocytomas aCGH 21085701 ACP1,ADAM17,ADI1,ALLC,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,E2F6,FAM110C,FAM150B,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC150622,LOC339788,LOC339822,LOC400940,LOC727982,LOC730811,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,MYT1L,NOL10,NTSR2,ODC1,PDIA6,PQLC3,PXDN,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SH3YL1,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TPO,TRAPPC12,TSSC1,YWHAQ chr2 112812737 112813382 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TMEM87B chr2 112821042 112821070 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 TMEM87B chr2 112829000 112906724 Duplication Non-syndromic sensorineural hearing loss References 19212409 FBLN7,TMEM87B chr2 112842197 112907338 Gain and loss Pancreatic cancer SNP array 17952125 FBLN7,TMEM87B chr2 112842437 112908536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBLN7,TMEM87B chr2 112842437 112908536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBLN7,TMEM87B chr2 112906224 112906324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBLN7 chr2 112906501 112912000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBLN7 chr2 11291565 11291671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 1 29174433 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00308,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3648,MIR3687,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TEKT4P2,TMPRSS15,TPTE,USP25 chr2 112954961 112955061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 112956129 113006212 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H8 chr2 112956214 113006689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZC3H8 chr2 112956214 113006689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H8 chr2 112966000 112987538 Duplication Non-syndromic sensorineural hearing loss References 19212409 ZC3H8 chr2 112993000 124591000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ACTR3,C1QL2,C2orf76,CBWD2,CCDC93,CHCHD5,CKAP2L,CLASP1,DBI,DDX11L2,DDX18,DPP10,EN1,EPB41L5,FAM138B,FLJ42351,FOXD4L1,GLI2,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,INHBB,INSIG2,LOC100499194,LOC254128,LOC389023,LOC440900,LOC654433,LOC84931,MARCO,MIR4782,MKI67IP,PAX8,PCDP1,POLR1B,PSD4,PTPN4,RABL2A,RALB,RGPD5,RGPD8,RNU4ATAC,RPL23AP7,SCTR,SLC20A1,SLC35F5,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37,TSN,TTL,WASH2P,ZC3H6,ZC3H8 chr21 1 29932926 Deletion Esophageal cancer affymetrix genechip human mapping 282K Nsp arrays 21851588 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3648,MIR3687,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TEKT4P2,TMPRSS15,TPTE,USP25 chr2 113001429 113001592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H8 chr2 113009874 113009946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H8 chr2 113015723 113051639 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H6 chr2 113016084 113051879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZC3H6 chr2 113016084 113051879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H6 chr2 113053294 113053392 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H6 chr2 113053532 113053632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H6 chr2 113058267 113062848 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H6 chr2 113058507 113063323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZC3H6 chr2 113058507 113063323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZC3H6 chr2 113106316 113112980 Amplification Glioblastoma multiforme Array CGH 19115005 NOT_FOUND chr2 113119758 113137629 Gain and loss Pancreatic cancer SNP array 17952125 RGPD5,RGPD8 chr2 113119998 113137869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGPD5,RGPD8 chr2 113119998 113137869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD5,RGPD8 chr2 113144686 113144772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD5,RGPD8 chr2 113176931 113201122 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGPD5,RGPD8 chr2 113195294 113216683 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113195534 113216927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113196001 113202000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13200000 15300000 Amplification Normal Refference 21823210 ANKRD30BP2,C21orf15,MIR3156-3,POTED chr21 13200000 15300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD30BP2,C21orf15,MIR3156-3,POTED chr21 13200000 15300000 Duplication Congenital abnormalities BAC array CGH platform 21549014 ANKRD30BP2,C21orf15,MIR3156-3,POTED chr21 13200000 15300000 Duplication Developmental delay BAC array CGH platform 21549014 ANKRD30BP2,C21orf15,MIR3156-3,POTED chr21 13200000 15300000 Duplication Mental retardation BAC array CGH platform 21549014 ANKRD30BP2,C21orf15,MIR3156-3,POTED chr21 13200000 30500000 Gain Glioblastoma multiforme aCGH 21080181 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,BTG3,C21orf15,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,POTED,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 13200000 30500000 Loss Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,BTG3,C21orf15,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,POTED,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 13200000 34700000 Loss Metanephric adenoma Oligo aCGH 20802469 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,BACH1,BTG3,C21orf119,C21orf15,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CLDN17,CLDN8,CXADR,CYYR1,D21S2088E,FAM176C,GABPA,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HSPA13,HUNK,IFNAR1,IFNAR2,IL10RB,JAM2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00113,LINC00158,LINC00159,LINC00161,LINC00189,LINC00307,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC100288432,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR4327,MIR4759,MIR5009,MIR99A,MIRLET7C,MIS18A,MRAP,MRPL39,N6AMT1,NCAM2,NRIP1,OLIG1,OLIG2,POTED,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SNORA80,SOD1,SYNJ1,TCP10L,TIAM1,TMPRSS15,URB1,USP16,USP25 chr21 13200000 34700000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,BACH1,BTG3,C21orf119,C21orf15,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CLDN17,CLDN8,CXADR,CYYR1,D21S2088E,FAM176C,GABPA,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HSPA13,HUNK,IFNAR1,IFNAR2,IL10RB,JAM2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00113,LINC00158,LINC00159,LINC00161,LINC00189,LINC00307,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC100288432,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR4327,MIR4759,MIR5009,MIR99A,MIRLET7C,MIS18A,MRAP,MRPL39,N6AMT1,NCAM2,NRIP1,OLIG1,OLIG2,POTED,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SNORA80,SOD1,SYNJ1,TCP10L,TIAM1,TMPRSS15,URB1,USP16,USP25 chr21 13200000 48129895 Copy number Prostate cancer 250K Sty SNP Array 19156837 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 13200000 48129895 Gain Basal cell lymphoma CGH 17170743 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 13200000 48129895 Gain Follicular lymphoma CGH 17170743 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 13200000 48129895 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr2 113210161 113238435 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113210401 113238675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113210401 113238675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11324712 11324818 Gain and loss Pancreatic cancer SNP array 17952125 ROCK2 chr2 113247726 113259202 Gain and loss Pancreatic cancer SNP array 17952125 TTL chr2 113247962 113259442 Gain or loss Breast cancer - 20668451 TTL chr2 113247962 113259442 Gain or loss Cancer - 20668451 TTL chr2 113247962 113259442 Gain or loss Lung cancer - 20668451 TTL chr2 113247962 113259442 Gain or loss Ovarian cancer - 20668451 TTL chr2 113247962 113259442 Gain or loss Pancreas cancer - 20668451 TTL chr2 113247962 113259442 Gain or loss Prostate cancer - 20668451 TTL chr2 113247966 113259442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTL chr2 113247966 113259442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTL chr21 13267540 13525448 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr21 13267540 14003100 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr2 113287052 113837255 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 CHCHD5,CKAP2L,FLJ42351,IL1A,IL1B,IL1F10,IL36A,IL36B,IL36G,IL36RN,IL37,POLR1B,SLC20A1,TTL chr21 13302578 13583117 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 13302578 13583117 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 113303568 113310587 Gain and loss Pancreatic cancer SNP array 17952125 POLR1B chr2 113303807 113310827 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 POLR1B chr2 113303807 113310827 Gain or loss Breast cancer - 20668451 POLR1B chr2 113303807 113310827 Gain or loss Cancer - 20668451 POLR1B chr2 113303807 113310827 Gain or loss Lung cancer - 20668451 POLR1B chr2 113303807 113310827 Gain or loss Ovarian cancer - 20668451 POLR1B chr2 113303807 113310827 Gain or loss Pancreas cancer - 20668451 POLR1B chr2 113303807 113310827 Gain or loss Prostate cancer - 20668451 POLR1B chr2 113303808 113310827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLR1B chr2 113303808 113310827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR1B chr2 113318359 113318459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR1B chr2 11331939 11360530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ROCK2 chr2 113327259 113327579 Gain and loss Pancreatic cancer SNP array 17952125 POLR1B chr2 113327324 113327850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR1B chr21 13331001 13332000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13332352 13346306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13336976 13346202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13338501 13363750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13341775 13341881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13341775 13341881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113353334 113903407 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CKAP2L,FLJ42351,IL1A,IL1B,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,SLC20A1 chr2 113355639 113385366 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr2 113356723 113390073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 13368571 13454409 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr21 13368583 13374732 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 13374721 13534468 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 13374721 14059449 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 13374721 14064249 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 13374733 13463240 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 113386777 113392687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113387017 113392927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113387017 113392927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13390521 13407341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13390521 13407341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113433033 113453152 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 1134367 1137229 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SNTG2 chr21 13446564 13446668 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 113451837 113459458 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113452077 113459698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113452077 113459698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13452809 46844477 Copy number Normal aCGH 22034057 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 11346232 11346309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ROCK2 chr21 13463240 13471836 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 13471836 13483809 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 113479509 113482597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113479509 113482597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113479772 113493879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13493740 14061300 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr2 113495899 113526677 Gain and loss Pancreatic cancer SNP array 17952125 CKAP2L chr2 113496139 113526911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CKAP2L chr2 113496139 113526911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CKAP2L chr21 13501828 13993300 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr21 13516094 13994676 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 13516094 13997340 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 113517036 113562828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CKAP2L,IL1A chr21 13521266 14006718 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr21 13530000 13650000 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr2 113532446 113538549 Gain and loss Pancreatic cancer SNP array 17952125 IL1A chr2 113532686 113538787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL1A chr2 113532686 113538787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL1A chr21 13534481 20901619 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ABCC13,ANKRD20A11P,ANKRD30BP2,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,HSPA13,LINC00478,LIPI,LOC388813,MIR125B2,MIR3156-3,MIR99A,MIRLET7C,NRIP1,POTED,RBM11,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr2 113541778 113549656 Gain and loss Pancreatic cancer SNP array 17952125 IL1A chr2 113542018 113549896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL1A chr2 113542018 113549896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL1A chr21 13549619 14085400 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr21 13556403 13817395 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 13556403 13942143 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 113560613 113560714 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113560613 113560731 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113560853 113560959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13572635 13572715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 113585164 113608063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL1B chr2 113585164 113608063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL1B chr2 113591701 113607823 Gain and loss Pancreatic cancer SNP array 17952125 IL1B chr21 13600161 13600256 Loss Normal 244K array 17666407 NOT_FOUND chr21 13604001 13605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 113604577 113604834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 113631001 113751000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IL36G,IL37 chr21 13634878 14043771 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 113638747 114983026 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR3,CBWD2,DDX11L2,FAM138B,FOXD4L1,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,LOC100499194,LOC440900,LOC654433,MIR4782,PAX8,PSD4,RABL2A,RPL23AP7,SLC35F5,WASH2P chr2 113638747 118441850 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR3,CBWD2,DDX11L2,DPP10,FAM138B,FOXD4L1,IL1F10,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,LOC100499194,LOC389023,LOC440900,LOC654433,MIR4782,PAX8,PSD4,RABL2A,RPL23AP7,SLC35F5,WASH2P chr21 13643459 13644840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13643459 13644840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113647805 113676717 Gain and loss Pancreatic cancer SNP array 17952125 IL37 chr2 113648031 113677148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL37 chr2 113648031 113677148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL37 chr2 113650000 113850000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 IL1F10,IL36A,IL36B,IL36G,IL36RN,IL37 chr2 113650000 113850000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 IL1F10,IL36A,IL36B,IL36G,IL36RN,IL37 chr2 11365602 11366518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ROCK2 chr2 11365602 11366518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROCK2 chr2 113658200 113809678 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 IL36A,IL36B,IL36G,IL37 chr21 13662501 13667500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 113665908 113665940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 13673001 13675000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13678441 13682132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13678441 13682132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113681548 113681648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 13687186 13991762 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr21 13689145 14043771 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 13689145 14043771 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 13689145 14152724 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 13689145 14152724 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 113690044 113752968 Copy number Lung cancer - 20668451 IL36G chr2 113690044 113752968 Gain or loss Breast cancer - 20668451 IL36G chr2 113690044 113752968 Gain or loss Cancer - 20668451 IL36G chr2 113690044 113752968 Gain or loss Lung cancer - 20668451 IL36G chr2 113690044 113752968 Gain or loss Ovarian cancer - 20668451 IL36G chr2 113690044 113752968 Gain or loss Pancreas cancer - 20668451 IL36G chr2 113690044 113752968 Gain or loss Prostate cancer - 20668451 IL36G chr2 113690045 113752958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL36G chr2 113690045 113752958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL36G chr2 113691171 113720751 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 11369759 11369859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROCK2 chr2 113709344 113740809 Gain and loss Pancreatic cancer SNP array 17952125 IL36G chr2 113709588 113741051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL36G chr21 13725531 13813182 Gain Stenocardia MACArray Karyo 91K BAC-chips 21860640 NOT_FOUND chr21 13725531 13813182 Gain Vasospasm MACArray Karyo 91K BAC-chips 21860640 NOT_FOUND chr21 13737565 13783368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13737565 13783368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13738712 13740024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 13738734 13739562 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 113739671 113739771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL36G chr2 113751001 113753000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 113753001 113766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IL36A chr2 113755000 113780022 Duplication Non-syndromic sensorineural hearing loss References 19212409 IL36A,IL36B chr21 13758001 13759000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 113761852 113884133 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 IL1F10,IL1RN,IL36A,IL36B,IL36RN chr21 13770563 13771455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13770563 13771455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113791179 113971846 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IL1F10,IL1RN,IL36B,IL36RN,PSD4 chr2 113791179 113971846 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IL1F10,IL1RN,IL36B,IL36RN,PSD4 chr2 113800000 118600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR3,CBWD2,DDX11L2,DDX18,DPP10,FAM138B,FOXD4L1,IL1F10,IL1RN,IL36B,IL36RN,LOC100499194,LOC389023,LOC440900,LOC654433,MIR4782,PAX8,PSD4,RABL2A,RPL23AP7,SLC35F5,WASH2P chr2 113800000 118600000 Copy number Normal - 21701786 ACTR3,CBWD2,DDX11L2,DDX18,DPP10,FAM138B,FOXD4L1,IL1F10,IL1RN,IL36B,IL36RN,LOC100499194,LOC389023,LOC440900,LOC654433,MIR4782,PAX8,PSD4,RABL2A,RPL23AP7,SLC35F5,WASH2P chr2 113800000 118600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR3,CBWD2,DDX11L2,DDX18,DPP10,FAM138B,FOXD4L1,IL1F10,IL1RN,IL36B,IL36RN,LOC100499194,LOC389023,LOC440900,LOC654433,MIR4782,PAX8,PSD4,RABL2A,RPL23AP7,SLC35F5,WASH2P chr21 13808251 13810000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 113809804 113849256 Amplification Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 IL1F10,IL36B,IL36RN chr21 13819791 13822771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13819791 13822771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13821070 13822729 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113832267 113832323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL1F10 chr21 13838402 13839377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13838402 13839377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113845792 113845889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 113867797 113870081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 113867813 113870097 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 113872529 113872663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 13875236 13876196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13875252 13876196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13879419 14043771 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 13879419 14043771 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 13879419 14152724 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 113880393 113880683 Gain and loss Pancreatic cancer SNP array 17952125 IL1RN chr2 113884126 113983779 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IL1RN,PAX8,PSD4 chr21 13890255 13992240 Gain Stenocardia MACArray Karyo 92K BAC-chips 21860640 NOT_FOUND chr21 13890255 13992240 Gain Vasospasm MACArray Karyo 92K BAC-chips 21860640 NOT_FOUND chr21 13904054 13935777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13904054 13935777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 13904368 13935777 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr21 13904369 13935777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113909999 114089999 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 LOC654433,PAX8,PSD4 chr2 113911613 113969978 Gain and loss Pancreatic cancer SNP array 17952125 PSD4 chr2 113911807 113970218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSD4 chr2 113911807 113970218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSD4 chr21 13915769 13915874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13915769 13915875 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13915769 13915875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113921222 113921659 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 113921462 113921899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11392204 11392548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ROCK2 chr2 113922429 113922529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 13933928 13933987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 13943501 13946500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13946501 13973250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13949999 14129999 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 NOT_FOUND chr21 13950406 14789617 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD30BP2,MIR3156-3 chr2 113968175 114144908 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC654433,PAX8 chr21 13970214 13971308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 113972472 113974958 Gain and loss Pancreatic cancer SNP array 17952125 PAX8 chr2 113973001 113978750 Copy number Normal ReadDepth: A Parallel R Package 21305028 PAX8 chr2 113973131 113975197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAX8 chr2 113973131 113975197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAX8 chr21 13973251 13976000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13973491 13975330 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr21 13973782 13974201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 13976001 13988500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13988501 13992000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 13992001 14008000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 14006718 15063290 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD30BP2,MIR3156-3,POTED chr21 14008001 14010500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 14010501 14087000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 114015825 114037104 Gain and loss Pancreatic cancer SNP array 17952125 LOC654433,PAX8 chr2 114016065 114037344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC654433,PAX8 chr2 114023380 114023412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC654433,PAX8 chr2 114032171 114036925 Loss Normal 244K array 17666407 PAX8 chr2 114051429 114052956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114051776 114052132 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14056530 14058524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14056639 14058524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114057006 114057143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114057919 114072888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114058161 114073079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114068001 114071250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 114070085 114131633 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr21 14070278 14071458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114071251 114150500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 114072836 114075374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114073074 114075623 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr2 114073339 114073464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114085203 114100912 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114085826 114086294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114085826 114086294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14086827 14087333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14086827 14087333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14087001 14089000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 11409204 11409695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROCK2 chr21 14092480 14203407 Gain Normal 244K array 17666407 NOT_FOUND chr21 14098750 14261623 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 114101286 114117439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114101286 114117439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114102414 114117196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114106319 114106419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 14118598 14119827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14118598 14119827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14120889 14121819 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14120889 14121819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114131715 114132482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114131920 114132934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114131920 114132934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14132943 14133655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14137334 14142556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14137335 14138253 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14140040 14194601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 114141286 114142430 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114141526 114142671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114141526 114142671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14143501 14145500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 114146043 114603953 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CBWD2,DDX11L2,FAM138B,FOXD4L1,MIR4782,RABL2A,RPL23AP7,SLC35F5,WASH2P chr2 114154918 114155021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114154919 114155021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114155158 114155264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14161096 14180658 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 114168944 114202914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CBWD2 chr21 14169640 14176151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 14181565 14189318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 14182330 14199327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 114188161 114230630 Gain and loss Pancreatic cancer SNP array 17952125 CBWD2 chr2 114188280 114188623 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 114188400 114230870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBWD2 chr2 114188400 114230870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBWD2 chr21 14200501 14203500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 14209373 14228410 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114224119 114251429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CBWD2 chr21 14226381 14235145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14226381 14235145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14229001 14231000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 14237966 14274636 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr21 14237974 14274636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14237974 14274636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14237974 14274636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114243288 114248168 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CBWD2 chr21 14251883 14251952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 14258919 46944323 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 11426161 11426357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROCK2 chr21 14262681 14262787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14262682 14262787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14262682 14262787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14269201 14370400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 14273501 14281500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 14282000 14305000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr21 14290000 17970000 Gain Acute lymphoblastic leukemia - 21339820 ABCC13,ANKRD20A11P,ANKRD30BP2,C21orf15,HSPA13,LINC00478,LIPI,LOC388813,MIR125B2,MIR3156-3,MIR99A,MIRLET7C,NRIP1,POTED,RBM11,SAMSN1,SAMSN1-AS1,USP25 chr21 14295119 14295292 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14295119 14295292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14299392 14299469 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14299392 14299469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14300000 16400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABCC13,ANKRD20A11P,ANKRD30BP2,C21orf15,HSPA13,LIPI,LOC388813,MIR3156-3,NRIP1,POTED,RBM11,SAMSN1,SAMSN1-AS1 chr21 14300000 16400000 Loss Autism References 18414403 ABCC13,ANKRD20A11P,ANKRD30BP2,C21orf15,HSPA13,LIPI,LOC388813,MIR3156-3,NRIP1,POTED,RBM11,SAMSN1,SAMSN1-AS1 chr21 14300000 48129895 Gain Basal cell lymphoma Array CGH 16317097 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 14300000 48129895 Gain Diffuse large b-cell lymphoma Array CGH 16317097 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 14301326 14309072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14301501 14310500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 114321942 114322043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114322182 114322283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14336968 25664043 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCC13,ANKRD20A11P,ANKRD30BP2,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,D21S2088E,HSPA13,LINC00308,LINC00317,LINC00320,LINC00478,LIPI,LOC388813,MIR125B2,MIR3156-3,MIR99A,MIRLET7C,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr21 14350001 14359000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 14358517 14363279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14358517 14363279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14359835 14359896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 114363767 114432395 Gain and loss Pancreatic cancer SNP array 17952125 RABL2A,RPL23AP7 chr2 114364007 114432635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RABL2A,RPL23AP7 chr2 114364007 114432635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABL2A,RPL23AP7 chr21 14365063 14365178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14365063 14365178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14365063 14365180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14378136 14389825 Gain Normal 244K array 17666407 NOT_FOUND chr21 14378837 14379373 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14378837 14379373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11438025 11438292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ROCK2 chr2 11438029 11438306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ROCK2 chr21 14380601 14385400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 114400000 118800000 Copy number Neuroticism SNP array 17667963 ACTR3,CCDC93,DDX18,DPP10,LOC100499194,LOC389023,LOC440900,MIR4782,RABL2A,SLC35F5 chr21 14403005 14501125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30BP2 chr21 14403005 14501125 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30BP2 chr21 14403005 14501125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30BP2 chr2 11442321 11442842 Gain and loss Pancreatic cancer SNP array 17952125 ROCK2 chr21 14429720 46912065 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 14429720 46912065 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 114464057 114464143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114479247 114479462 Gain and loss Pancreatic cancer SNP array 17952125 SLC35F5 chr2 114479488 114479702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC35F5 chr21 14500000 29900000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr2 114505782 114505862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC35F5 chr21 14510350 14522558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14510350 14522564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14510350 14522564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14510370 14522564 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 14516242 14789617 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR3156-3 chr21 14546389 17905136 Deletion Acute myeloid leukemia - 21251322 ABCC13,ANKRD20A11P,C21orf15,HSPA13,LINC00478,LIPI,LOC388813,MIR3156-3,NRIP1,POTED,RBM11,SAMSN1,SAMSN1-AS1,USP25 chr21 14549481 14585808 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 1145606 1556673 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 SNTG2,TPO chr21 14567991 14632206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14567991 14632206 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14567991 14632206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14569302 14576372 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 1 1458500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACP1,FAM110C,FAM150B,LOC339822,SH3YL1,SNTG2,TMEM18,TPO chr21 14600000 24600000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ABCC13,ANKRD20A11P,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,HSPA13,LINC00308,LINC00317,LINC00320,LINC00478,LIPI,LOC388813,MIR125B2,MIR3156-3,MIR99A,MIRLET7C,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr21 14647735 14656946 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14665307 14677342 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 14665310 14677380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14665310 14677380 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14665310 14677380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 1 46944323 Copy number Cancer ICA method 16751803 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 1 46944323 Gain Glioblastoma multiforme aCGH 21080181 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 1 46944323 Gain Medulloblastoma SNP arrays 21979893 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 1 46944323 Gain Normal - 20616218 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 1 46944323 Gain Pleomorphic xanthoastrocytoma SNP array 20730472 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 1 46944323 Indels Normal Affymetrix 6.0 array 21223598 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 1 46944323 Trisomy 21 Down syndrome FISH 17412756 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 1 46944323 Trisomy Normal GenomePlex Whole Genome Amplification Kit 17292767 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 14720189 14736240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 14722578 14748290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 114722835 114722935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 14723225 14734442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 14728663 14734302 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 14729750 14752240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 14730650 14738098 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 14731153 14737045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 114733853 114734349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14742982 14743018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 114754891 114754982 Gain and loss Pancreatic cancer SNP array 17952125 LOC440900 chr2 114755131 114755222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440900 chr2 114758171 114758271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC440900 chr2 114762472 114762572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC440900 chr21 14769325 14769389 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 14769343 14769407 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr21 14779420 14877594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 14779420 14877968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14779420 14877968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14779426 14877594 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 114791821 114836657 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 114810035 114810135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 1 48129895 Copy number Down syndrome references 17576883 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 1 48129895 Tri Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 14830513 15087868 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 POTED chr21 14878827 15177499 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 POTED chr21 14887912 14953013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 14887912 14953013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114893932 114893993 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114893932 114894111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 114894172 114894349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 114916346 116319798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPP10,LOC389023 chr2 114916346 116319798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPP10,LOC389023 chr2 114916586 116316706 Gain and loss Pancreatic cancer SNP array 17952125 DPP10,LOC389023 chr2 1149181 1655024 LOH Normal High-resolution SNP genotyping 21211785 PXDN,SNTG2,TPO chr21 14918726 14964220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 14925201 18224155 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCC13,ANKRD20A11P,C21orf15,HSPA13,LINC00478,LIPI,LOC388813,MIR125B2,MIR99A,MIRLET7C,NRIP1,POTED,RBM11,SAMSN1,SAMSN1-AS1,USP25 chr2 114930983 114931083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 114939439 114939539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 114976561 114976655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11501952 11523748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11501952 11523748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 115020850 117700123 LOH Normal High-resolution SNP genotyping 21211785 DPP10,LOC389023 chr21 15035789 15036026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 15051780 15052544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 115053720 115567187 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DPP10 chr21 15063290 19232466 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC13,ANKRD20A11P,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL-AS1,CXADR,HSPA13,LINC00478,LIPI,LOC388813,MIR125B2,MIR99A,MIRLET7C,NRIP1,RBM11,SAMSN1,SAMSN1-AS1,USP25 chr21 15068490 15069454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 15070648 15334458 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ANKRD20A11P,C21orf15 chr21 15112631 16132709 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCC13,ANKRD20A11P,C21orf15,HSPA13,LIPI,LOC388813,RBM11,SAMSN1,SAMSN1-AS1 chr2 11511501 12751200 Copy number Normal ReadDepth: A Parallel R Package 21305028 E2F6,GREB1,LINC00570,LPIN1,MIR4262,MIR4429,NTSR2 chr21 15123346 15124181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 115126242 115126342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 1514323 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-365K arrays 21546498 ACP1,FAM110C,FAM150B,LOC339822,SH3YL1,SNTG2,TMEM18,TPO chr2 115180477 115180577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 115180877 115181375 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr21 15197154 15197232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 115208478 115208578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 115221139 115221239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 1 15244284 Deletion Cancer Affymetrix 250K Sty array 20164920 ACP1,ADAM17,ADI1,ALLC,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,E2F6,FAM110C,FAM150B,FAM84A,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC727982,LOC730811,LPIN1,MBOAT2,MIR3125,MIR4261,MIR4262,MIR4429,MYT1L,NOL10,NTSR2,ODC1,PDIA6,PQLC3,PXDN,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SH3YL1,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TPO,TRAPPC12,TRIB2,TSSC1,YWHAQ chr2 115251442 115258870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DPP10 chr21 15255427 15359192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A11P chr21 15255427 15359192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A11P chr21 15255432 15262670 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 15258908 15262384 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 15295891 19989891 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ABCC13,ANKRD20A11P,BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,HSPA13,LINC00478,LIPI,LOC388813,MIR125B2,MIR99A,MIRLET7C,NRIP1,RBM11,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr21 15300000 22900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC13,ANKRD20A11P,BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,HSPA13,LINC00320,LINC00478,LIPI,LOC388813,MIR125B2,MIR99A,MIRLET7C,NCAM2,NRIP1,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr21 15300000 22900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC13,ANKRD20A11P,BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,HSPA13,LINC00320,LINC00478,LIPI,LOC388813,MIR125B2,MIR99A,MIRLET7C,NCAM2,NRIP1,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TMPRSS15,USP25 chr21 15300000 30500000 Copy number Alzheimer's disease from references 18923514 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 15300000 30500000 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 15300000 30500000 Duplication Alzheimer's disease - 20877625 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 15300000 30500000 Gain Alzheimer's disease References 21956041 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 15300000 30500000 Gain Follicular lymphoma aCGH 20505157 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 15300000 30500000 Loss Cancer array-based techniques 21183584 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 15300000 30500000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,HSPA13,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,TMPRSS15,USP16,USP25 chr21 15300000 34700000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,APP,ATP5J,BACH1,BTG3,C21orf119,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CLDN17,CLDN8,CXADR,CYYR1,D21S2088E,FAM176C,GABPA,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HSPA13,HUNK,IFNAR1,IFNAR2,IL10RB,JAM2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00113,LINC00158,LINC00159,LINC00161,LINC00189,LINC00307,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LIPI,LOC100288432,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR4327,MIR4759,MIR5009,MIR99A,MIRLET7C,MIS18A,MRAP,MRPL39,N6AMT1,NCAM2,NRIP1,OLIG1,OLIG2,RBM11,RNU6-67,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SNORA80,SOD1,SYNJ1,TCP10L,TIAM1,TMPRSS15,URB1,USP16,USP25 chr21 15300000 46944323 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 15300000 46944323 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 15300000 46944323 Loss Glioblastoma multiforme aCGH 21080181 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 115305630 115305730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 115317279 115317377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 115317465 115317541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 115342701 115347200 Deletion Glioma mate-paired sequence 20126413 DPP10 chr21 15344381 15346563 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD20A11P chr2 115344490 115345542 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DPP10 chr2 115344575 115345313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DPP10 chr2 11536015 11556895 Gain and loss Pancreatic cancer SNP array 17952125 LINC00570 chr2 115363614 115409240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP10 chr21 15379788 15625419 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LIPI,RBM11 chr2 115391848 115391948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 115411248 115411511 Gain and loss Pancreatic cancer SNP array 17952125 DPP10 chr2 115411488 115411751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPP10 chr2 115411521 115411625 Gain and loss Pancreatic cancer SNP array 17952125 DPP10 chr2 115411522 115411614 Gain and loss Pancreatic cancer SNP array 17952125 DPP10 chr2 115411761 115411865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPP10 chr2 1154163 1154263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 115462547 117108830 LOH Normal High-resolution SNP genotyping 21211785 DPP10,LOC389023 chr21 15481528 15482292 Gain Normal 244K array 17666407 LIPI chr21 15488368 15489600 Gain Normal 244K array 17666407 LIPI chr21 15509361 15514034 Loss Normal 244K array 17666407 LIPI chr21 15510143 15513784 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LIPI chr21 15510248 15513320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIPI chr21 15510249 15513326 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LIPI chr21 15510264 15513034 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LIPI chr21 15519746 15526601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIPI chr2 115568165 207978639 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCB11,ABI2,ACMSD,ACVR1,ACVR1C,ACVR2A,ADAM23,AGPS,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANKAR,ANKRD30BL,ANKRD44,AOX1,AOX2P,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,ASNSD1,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,BIN1,BMPR2,BOLL,BZW1,C1QL2,C2orf27A,C2orf27B,C2orf47,C2orf66,C2orf69,C2orf76,C2orf88,CACNB4,CALCRL,CASP10,CASP8,CCDC115,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CD28,CD302,CDCA7,CDK15,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHN1,CHRNA1,CIR1,CLASP1,CLK1,CNTNAP5,COBLL1,COL3A1,COL5A2,COQ10B,CPO,CSRNP3,CTLA4,CWC22,CXCR4,CYBRD1,CYP20A1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DCAF17,DDX18,DFNB59,DHRS9,DIRC1,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJC10,DPP10,DPP4,DUSP19,DYNC1I2,DYTN,EEF1B2,EN1,EPB41L5,EPC2,ERCC3,ERMN,EVX2,FAM117B,FAM123C,FAM126B,FAM168B,FAM171B,FAP,FASTKD1,FASTKD2,FIGN,FKBP7,FMNL2,FONG,FRZB,FSIP2,FZD7,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GCSHP3,GLI2,GLS,GORASP2,GPD2,GPR1,GPR148,GPR155,GPR17,GPR39,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HECW2,HIBCH,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,IFIH1,IMP4,INHBB,INO80D,INPP1,INSIG2,ITGA4,ITGA6,ITGAV,ITGB6,IWS1,KBTBD10,KCNH7,KCNJ3,KCTD18,KIAA1715,KIF5C,KLF7,KLHL23,KYNU,LCT,LIMS2,LOC100129961,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100505695,LOC100506124,LOC100506134,LOC100507140,LOC100507600,LOC100861402,LOC150776,LOC200726,LOC254128,LOC285084,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC440925,LOC646743,LOC647012,LOC84931,LRP1B,LRP2,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MAP3K2,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,METAP1D,METTL5,METTL8,MFSD6,MGAT5,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR2355,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3606,MIR3679,MIR4437,MIR4444-1,MIR4773-1,MIR4773-2,MIR4774,MIR4783,MIR4784,MIR4785,MIR548N,MIR561,MIR663B,MIR933,MKI67IP,MLK7-AS1,MMADHC,MOB4,MPP4,MSTN,MTX2,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCKAP1,NCKAP5,NDUFB3,NDUFS1,NEB,NEUROD1,NFE2L2,NIF3L1,NMI,NOP58,NOSTRIN,NR4A2,NRP2,NUP35,NXPH2,OLA1,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,PABPC1P2,PARD3B,PCDP1,PCGEM1,PDE11A,PDE1A,PDK1,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLCL1,PLEKHA3,PLEKHB2,PMS1,POLR2D,POTEE,POTEF,PPIG,PPIL3,PPP1R1C,PRKRA,PROC,PRPF40A,PSMD14,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RALB,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM45,RBMS1,RFTN2,RIF1,RND3,RNU4ATAC,RNU6-81,RPRM,SAP130,SATB2,SATB2-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SESTD1,SF3B1,SFT2D3,SGOL2,SLC25A12,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SMPD4,SNORA41,SNORA70F,SNORD11,SNORD11B,SNORD51,SNORD70,SP3,SP5,SP9,SPATS2L,SPC25,SPOPL,SSB,SSFA2,STAM2,STAT1,STAT4,STEAP3,STK17B,STK39,STRADB,SUMO1,TANC1,TANK,TBR1,TFCP2L1,TFPI,THSD7B,TISP43,TLK1,TMEFF2,TMEM163,TMEM177,TMEM185B,TMEM194B,TMEM237,TMEM37,TNFAIP6,TRAK2,TSN,TTC21B,TTC30A,TTC30B,TTN,TTN-AS1,TUBA3D,TUBA3E,TYW5,UBE2E3,UBR3,UBXN4,UGGT1,UPP2,WDR12,WDR33,WDR75,WDSUB1,WIPF1,WTH3DI,XIRP2,YSK4,ZAK,ZC3H15,ZDBF2,ZEB2,ZEB2-AS1,ZNF385B,ZNF804A,ZRANB3,ZSWIM2 chr21 15594273 15594362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM11 chr21 15605555 15605655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 15613916 16449211 LOH Normal High-resolution SNP genotyping 21211785 ABCC13,HSPA13,LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr21 15615235 15650441 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABCC13 chr21 15617708 16231549 LOH Normal High-resolution SNP genotyping 21211785 ABCC13,HSPA13,LOC388813,SAMSN1,SAMSN1-AS1 chr21 15652717 15652868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC13 chr21 15652769 15652869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC13 chr21 15654278 15654362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC13 chr21 15663865 15682590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABCC13 chr2 115689550 115689648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DPP10 chr21 15700259 16008627 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HSPA13,LOC388813,SAMSN1,SAMSN1-AS1 chr2 115749455 115749555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 11574974 11575080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 15757014 15757114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 115757132 116156371 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 DPP10,LOC389023 chr21 15764512 16481883 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr2 115776113 129545173 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 AMMECR1L,BIN1,C1QL2,C2orf76,CCDC93,CLASP1,CNTNAP5,CYP27C1,DBI,DDX18,DPP10,EN1,EPB41L5,ERCC3,GLI2,GPR17,GYPC,HS6ST1,INHBB,INSIG2,IWS1,LIMS2,LOC254128,LOC389023,LOC84931,MAP3K2,MARCO,MIR4783,MKI67IP,MYO7B,PCDP1,POLR2D,PROC,PTPN4,RALB,RNU4ATAC,SAP130,SCTR,SFT2D3,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37,TSN,UGGT1,WDR33 chr21 15784720 15784957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11580510 11580572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 115814609 115848905 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DPP10 chr21 15822705 15822799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 15824417 15848504 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 15834517 16018549 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC388813,SAMSN1,SAMSN1-AS1 chr21 15848504 16391820 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr2 115864828 115864928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr21 15865566 16480995 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr21 15865566 16492480 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr2 115867110 115867210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 115869333 115869433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr21 15881614 16445367 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr21 15908473 15908579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAMSN1 chr21 15908474 15908578 Gain and loss Pancreatic cancer SNP array 17952125 SAMSN1 chr21 15911452 16445367 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr21 15913926 16060366 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 LOC388813,SAMSN1,SAMSN1-AS1 chr2 115913957 115914057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10,LOC389023 chr2 11591693 11700365 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 E2F6,GREB1,MIR4429 chr2 11591693 11700365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 E2F6,GREB1,MIR4429 chr2 11591693 11700365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 E2F6,GREB1,MIR4429 chr2 115918893 116297423 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DPP10,LOC389023 chr21 15936212 16657034 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr21 15937812 15938726 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SAMSN1 chr21 15949219 16676558 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr21 15949219 16677041 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1,SAMSN1,SAMSN1-AS1 chr21 15976473 16576244 LOH Normal High-resolution SNP genotyping 21211785 LOC388813,NRIP1 chr21 15987398 15987493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388813 chr21 15988490 15990771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388813 chr21 16002849 16002954 Gain and loss Pancreatic cancer SNP array 17952125 LOC388813 chr21 16002849 16002954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388813 chr21 16024215 16174248 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 16024215 16174248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 16024215 16174248 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16024215 16174248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 16024366 16174248 Gain or loss Breast cancer - 20668451 NOT_FOUND chr21 16024366 16174248 Gain or loss Cancer - 20668451 NOT_FOUND chr21 16024366 16174248 Gain or loss Lung cancer - 20668451 NOT_FOUND chr21 16024366 16174248 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr21 16024366 16174248 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr21 16024366 16174248 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr21 16038194 16039270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 16071176 16071276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11608122 11608227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 11608129 11608228 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16085691 159402140 Gain or loss Breast cancer - 20668451 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 16085691 159402140 Gain or loss Cancer - 20668451 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 16085691 159402140 Gain or loss Lung cancer - 20668451 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 16085691 159402140 Gain or loss Ovarian cancer - 20668451 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 16085691 159402140 Gain or loss Pancreas cancer - 20668451 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 16085691 159402140 Gain or loss Prostate cancer - 20668451 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR125B2,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 16087209 16118275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 16087996 16088096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11609278 11609349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 116107043 116107143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr21 16125466 16158278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 11613236 11613336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 16132709 16747662 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NRIP1 chr2 116156371 116851751 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 DPP10 chr2 116186438 116186751 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DPP10 chr2 11619001 11924000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GREB1,LPIN1,MIR4429,NTSR2 chr2 11619238 11619356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 16210000 18810000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 LINC00478,MIR125B2,MIR99A,MIRLET7C,NRIP1,USP25 chr2 116228838 116228938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 116238026 116516523 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DPP10 chr21 16248990 16265329 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 116257824 116391820 Gain Normal Birdsuite, version 1.5.2 22087296 DPP10 chr2 116286997 116287281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DPP10 chr21 16290000 40990000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ADAMTS1,ADAMTS5,APP,ATP5J,ATP5O,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,C21orf88,C21orf91,C21orf91-OT1,CBR1,CBR3,CBR3-AS1,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,CRYZL1,CXADR,CYYR1,D21S2088E,DNAJC28,DONSON,DOPEY2,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00189,LINC00307,LINC00308,LINC00310,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC339622,LTN1,MIR125B2,MIR155,MIR155HG,MIR4327,MIR4759,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,N6AMT1,NCAM2,NRIP1,OLIG1,OLIG2,PIGP,PSMG1,RCAN1,RNU6-67,RUNX1,RUNX1-IT1,RWDD2B,SCAF4,SETD4,SH3BGR,SIM2,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,TMPRSS15,TTC3,URB1,USP16,USP25,WRB chr21 16291664 17505497 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00478,NRIP1,USP25 chr21 16299999 16300723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 16300000 24300000 Deletion 22q11.2 microdeletion syndrome FISH 19750312 BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,LINC00308,LINC00317,LINC00320,LINC00478,MIR125B2,MIR99A,MIRLET7C,NCAM2,NRIP1,RNU6-67,TMPRSS15,USP25 chr2 11630678 11678176 Gain and loss Pancreatic cancer SNP array 17952125 GREB1 chr21 16320167 24008474 Copy number gain Normal High-resolution SNP genotyping 21211785 BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,LINC00308,LINC00317,LINC00320,LINC00478,MIR125B2,MIR99A,MIRLET7C,NCAM2,NRIP1,RNU6-67,TMPRSS15,USP25 chr21 16329605 16329703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16329605 16329703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 116342021 116342121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP10 chr2 1 163500000 Gain Medulloblastoma SNP arrays 21979893 AAK1,ABCG5,ABCG8,ABHD1,ACMSD,ACOXL,ACP1,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASAP2,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BAZ2B,BCL11A,BCL2L11,BIN1,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf48,C2orf49,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf76,C2orf78,C2orf81,C2orf91,CACNB4,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CBWD2,CCDC104,CCDC115,CCDC121,CCDC138,CCDC142,CCDC148,CCDC148-AS1,CCDC164,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCNT2,CCT4,CCT7,CD207,CD302,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CFC1,CFC1B,CGREF1,CHAC2,CHCHD5,CHMP3,CHST10,CIAO1,CIB4,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CMPK2,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COLEC11,COMMD1,COX5B,COX7A2L,CPSF3,CREG2,CRIM1,CRIPT,CTNNA2,CXCR4,CYP1B1,CYP1B1-AS1,CYP26B1,CYP27C1,CYP4F30P,CYS1,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DGUOK,DHX57,DKFZp686O1327,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP2,DYNC2LI1,DYSF,E2F6,EDAR,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPT1,ERCC3,ERLEC1,ERMN,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM123C,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FMNL2,FNDC4,FOSL2,FOXD4L1,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT13,GALNT14,GALNT5,GCA,GCC2,GCFC2,GCG,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GPAT2,GPD2,GPN1,GPR113,GPR148,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GYPC,HAAO,HADHA,HADHB,HEATR5B,HK2,HNMT,HNRPLL,HPCAL1,HS1BP3,HS6ST1,HTRA2,IAH1,ID2,IFIH1,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITGB1BP1,ITGB6,ITPRIPL1,ITSN2,IWS1,KANSL3,KCMF1,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1211L,KIAA1841,KIDINS220,KIF3C,KIF5C,KLF11,KLHL29,KRCC1,KRTCAP3,KYNU,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LIPT1,LMAN2L,LOC100129726,LOC100129961,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506274,LOC100506421,LOC100506474,LOC100507334,LOC100507600,LOC100630918,LOC150568,LOC150622,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC644838,LOC645949,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRPPRC,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH7,MARCO,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,MFSD2B,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3127,MIR3679,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MIR5696,MIR663B,MITD1,MKI67IP,MMADHC,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYO7B,MYT1L,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NBAS,NCAPH,NCK2,NCKAP5,NCOA1,NEB,NEURL3,NFU1,NLRC4,NMI,NMS,NOL10,NOTO,NPAS2,NPHP1,NR4A2,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NXPH2,ODC1,OR7E91P,ORC4,OSR1,OST4,OTOF,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PKP4,PLA2R1,PLB1,PLEK,PLEKHB2,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTPN18,PTPN4,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RANBP2,RASGRP3,RBKS,RBM43,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNU4ATAC,RNU6-81,ROCK2,RPIA,RPL23AP32,RPL23AP7,RPL31,RPRM,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SAP130,SCTR,SDC1,SEMA4C,SEMA4F,SEPT10,SERTAD2,SF3B14,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC1A4,SLC20A1,SLC30A3,SLC30A6,SLC35F5,SLC3A1,SLC4A10,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SPAST,SPDYA,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STEAP3,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM214,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSN,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UNC50,UNQ6975,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WASH2P,WBP1,WDPCP,WDR33,WDR35,WDR43,WDR54,WDR92,WDSUB1,WTH3DI,XDH,XPO1,YIPF4,YPEL5,YSK4,YWHAQ,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZFP36L2,ZNF2,ZNF512,ZNF513,ZNF514,ZNF638,ZRANB3 chr21 16359806 16359900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRIP1 chr21 16364713 16901413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRIP1 chr21 16365424 16369146 Gain and loss Pancreatic cancer SNP array 17952125 NRIP1 chr2 116372603 116372838 Copy number Normal Paralogue Ratio Test systems 17175532 DPP10 chr2 116376701 116381100 Deletion Glioma mate-paired sequence 20126413 DPP10 chr2 116378533 116379146 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DPP10 chr2 116378535 116379148 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DPP10 chr2 116378547 116379125 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DPP10 chr2 116378779 116379089 Deletion Medulloblastoma Illumina SNP arrays 21163964 DPP10 chr21 16388606 16389563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRIP1 chr2 116396684 116419857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP10 chr21 16399655 16399803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRIP1 chr21 16400000 24000000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,LINC00308,LINC00317,LINC00320,LINC00478,MIR125B2,MIR99A,MIRLET7C,NCAM2,NRIP1,RNU6-67,TMPRSS15,USP25 chr21 16400000 31500000 Loss Basal cell lymphoma Array CGH 16317097 ADAMTS1,ADAMTS5,APP,ATP5J,BACH1,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,GRIK1,GRIK1-AS1,GRIK1-AS2,JAM2,LINC00113,LINC00158,LINC00161,LINC00189,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LOC339622,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RNU6-67,RWDD2B,TMPRSS15,USP16,USP25 chr21 16400000 31500000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ADAMTS1,ADAMTS5,APP,ATP5J,BACH1,BTG3,C21orf37,C21orf7,C21orf91,C21orf91-OT1,CCT8,CHODL,CHODL-AS1,CXADR,CYYR1,D21S2088E,GABPA,GRIK1,GRIK1-AS1,GRIK1-AS2,JAM2,LINC00113,LINC00158,LINC00161,LINC00189,LINC00308,LINC00314,LINC00317,LINC00320,LINC00478,LINC00515,LOC339622,LTN1,MIR125B2,MIR155,MIR155HG,MIR4759,MIR5009,MIR99A,MIRLET7C,MRPL39,N6AMT1,NCAM2,NRIP1,RNU6-67,RWDD2B,TMPRSS15,USP16,USP25 chr2 116402263 116424535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP10 chr2 116404317 116413418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP10 chr2 116406694 116429364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP10 chr2 116409160 116418206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP10 chr2 116410212 116422298 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP10 chr21 16415501 16415835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRIP1 chr2 11642350 11642549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 11642425 11642496 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16435828 16435908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRIP1 chr21 16441485 16441585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 16444083 16444411 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 16461611 16461782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 16461794 16461987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 16472786 16662257 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 16488614 16901413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 16488614 16901413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 116498315 117059979 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DPP10 chr21 16505248 16505348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 116515307 116515376 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DPP10 chr2 11651918 11652030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 11651918 11652078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 11652385 11652503 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 11652386 11652503 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16539916 16540031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 16578888 16578960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 16578888 16578967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16582399 16583116 Gain Normal 244K array 17666407 NOT_FOUND chr21 16614954 16615029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11662864 11662953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 116640345 116640443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 16655434 16655534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 16683912 16708090 Copy number Normal - 20703242 NOT_FOUND chr2 116691104 116694773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 16693940 16716168 Copy number Type 2 diabetes ILLumia HumanHap308 BeadChip 21526130 NOT_FOUND chr21 16716380 16737227 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 11675497 11675696 Gain and loss Pancreatic cancer SNP array 17952125 GREB1 chr21 16767785 16767865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 16774115 16774215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 116775809 116776126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 116776068 116776168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 116789340 116789603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 116823389 116823434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 16825844 16842009 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 16825844 16843294 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 16833280 16833360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16833280 16833360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 16834014 16834107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16834014 16834107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 16834019 16834102 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr21 16834019 16834102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16837804 16837904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 116850254 116850468 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 16884428 16884516 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr21 16884428 16884516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 16884428 16884516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 116956229 116956300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 116956247 116956316 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 16956916 16987639 Loss Autism - 20841430 NOT_FOUND chr21 17000129 17044960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 11700798 25288897 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADCY3,APOB,ATAD2B,C2orf43,C2orf44,CENPO,DDX1,DNAJC27,DNAJC27-AS1,EFR3B,FAM228A,FAM228B,FAM49A,FAM84A,FKBP1B,FLJ12334,GDF7,GEN1,GREB1,HS1BP3,ITSN2,KCNS3,KLHL29,LAPTM4A,LOC100506474,LOC645949,LPIN1,MATN3,MFSD2B,MIR3125,MIR4262,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NCOA1,NT5C1B,NT5C1B-RDH14,NTSR2,OSR1,PFN4,PTRHD1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SF3B14,SMC6,TP53I3,TRIB2,TTC32,UBXN2A,VSNL1,WDR35 chr21 17013188 17013347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 17013190 17013347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117013514 117598286 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 11702983 11733511 Gain and loss Pancreatic cancer SNP array 17952125 GREB1 chr2 117051395 117051710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 117057664 117057758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17109992 17110081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP25 chr21 17123211 17123311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP25 chr2 11712589 11741036 Gain Autism qPCR 20531469 GREB1 chr2 117140756 117140856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17153075 17153175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP25 chr2 11715754 11727780 Gain or loss Breast cancer - 20668451 GREB1 chr2 11715754 11727780 Gain or loss Cancer - 20668451 GREB1 chr2 11715754 11727780 Gain or loss Lung cancer - 20668451 GREB1 chr2 11715754 11727780 Gain or loss Ovarian cancer - 20668451 GREB1 chr2 11715754 11727780 Gain or loss Pancreas cancer - 20668451 GREB1 chr2 11715754 11727780 Gain or loss Prostate cancer - 20668451 GREB1 chr2 11715756 11727876 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GREB1 chr2 11715756 11727876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GREB1 chr2 11715756 11727876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1 chr21 17173890 17173990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP25 chr2 11717864 11717917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GREB1 chr2 117181900 117198939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 17191437 17191510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP25 chr21 17206601 17215400 Deletion Glioma mate-paired sequence 20126413 USP25 chr2 117217972 117452675 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 11722946 11723546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GREB1 chr2 11722946 11723546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1 chr2 11723416 11723510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GREB1 chr2 117260763 117467663 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 117261105 117261205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17266594 17267978 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr21 17267672 17267727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17268238 17270054 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 11729435 11729524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GREB1 chr21 17300000 17900000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 LINC00478 chr21 17312061 17312153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17341604 17341699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 117378502 117378602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17395964 18186026 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00478,MIR125B2,MIR99A,MIRLET7C chr2 117422183 117422283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 117443441 117443536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 117444944 117452682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 117445576 118597135 LOH Normal High-resolution SNP genotyping 21211785 DDX18 chr2 117445775 117452675 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 117455773 117455873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11748903 11761023 Gain and loss Pancreatic cancer SNP array 17952125 GREB1 chr2 117489208 117508223 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 117491841 117628998 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 117495000 117495070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117495090 117495351 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117495238 117495591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117495240 117495310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117496020 117496088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117496260 117496328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117497647 117497721 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117497887 117497961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117498673 117498741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117498739 117498810 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117498812 117498879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117498913 117498981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117499052 117499119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117499923 117499990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117500000 117500068 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117500070 117500142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117500163 117500230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117500175 117500241 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117500240 117500308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117500241 117500306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 117500310 117500382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 117500415 117500481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 17504658 17505536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17519645 17537717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00478 chr21 17534201 17535504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00478 chr21 17534241 17535236 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LINC00478 chr21 17557090 18074862 LOH Normal High-resolution SNP genotyping 21211785 LINC00478,MIR125B2,MIR99A,MIRLET7C chr2 11755832 11755927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GREB1 chr2 11757724 11757824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GREB1 chr2 117609521 117609859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 117613521 117613582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 17625941 17626041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr21 17651219 17651319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr21 17667404 17854835 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 LINC00478 chr2 117672996 117673096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 117680831 118125863 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-301K arrays 21546498 NOT_FOUND chr2 117685550 117846661 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr21 17687747 17687822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr21 17696177 18484907 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00478,MIR125B2,MIR99A,MIRLET7C chr21 17710001 17836500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00478 chr21 17725745 17725836 Gain and loss Pancreatic cancer SNP array 17952125 LINC00478 chr21 17725745 17725836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17747677 17747737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00478 chr21 17768304 17768336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr2 117774599 117774699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 117781820 117781915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 117784877 117784951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17794868 17795013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17795718 17795770 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00478 chr21 17803093 17803193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr21 17807201 17861135 Gain and loss Pancreatic cancer SNP array 17952125 LINC00478 chr21 17807201 17861147 Amplification T-cell lymphomas Array-CGH 22341440 LINC00478 chr21 17807201 17887768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17807201 17887768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17812712 17813182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17812715 17813249 Gain and loss Pancreatic cancer SNP array 17952125 LINC00478 chr2 11781929 11884982 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GREB1,LPIN1,NTSR2 chr2 11781929 11884982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GREB1,LPIN1,NTSR2 chr2 11781929 11884982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GREB1,LPIN1,NTSR2 chr2 11781948 11884984 Deletion Normal Affymetrix 6.0 array 21223598 GREB1,LPIN1,NTSR2 chr21 17821329 17821436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17821331 17821436 Gain and loss Pancreatic cancer SNP array 17952125 LINC00478 chr21 17821333 17821436 Gain and loss Pancreatic cancer SNP array 17952125 LINC00478 chr2 117831555 117831655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17856527 17856612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr2 117869054 117869154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17870987 17871093 Gain and loss Pancreatic cancer SNP array 17952125 LINC00478 chr21 17870987 17871095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17870988 17871094 Gain and loss Pancreatic cancer SNP array 17952125 LINC00478 chr2 117871648 117871748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 17881856 17881980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr21 17887843 17907033 Amplification T-cell lymphomas Array-CGH 22341440 LINC00478 chr21 17887843 17907033 Gain and loss Pancreatic cancer SNP array 17952125 LINC00478 chr21 17887844 17907086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17887844 17907086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00478 chr21 17923597 17923672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr2 117948601 122806200 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1QL2,C2orf76,CCDC93,CLASP1,DBI,DDX18,EN1,EPB41L5,GLI2,INHBB,INSIG2,LOC254128,LOC84931,MARCO,MKI67IP,PCDP1,PTPN4,RALB,RNU4ATAC,SCTR,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37,TSN chr21 17958775 17958875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00478 chr2 117965258 118115612 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr21 17994559 17998812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 117997282 119015357 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC93,DDX18,INSIG2 chr2 11800000 102100000 Increases Medulloblastoma interphase fluorescence in situ hybridization(I-FISH) 20607354 AAK1,ABCG5,ABCG8,ABHD1,ACTG2,ACTR1B,ACTR2,ACTR3BP2,ACYP2,ADCY3,ADD2,ADRA2B,AFF3,AFTPH,AGBL5,AHSA2,ALK,ALMS1,ALMS1P,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ARID5A,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf15,C2orf16,C2orf18,C2orf29,C2orf42,C2orf43,C2orf44,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CHST10,CIAO1,CIB4,CLEC4F,CLHC1,CLIP4,CNGA3,CNNM3,CNNM4,CNRIP1,COA5,COMMD1,COX5B,COX7A2L,CREG2,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP2,DYNC2LI1,DYSF,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM136A,FAM161A,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPAT2,GPN1,GPR113,GPR75,GPR75-ASB3,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HS1BP3,HTRA2,IFT172,IMMT,INO80B,INO80B-WBP1,INPP4A,ITPRIPL1,ITSN2,KANSL3,KCMF1,KCNG3,KCNIP3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1211L,KIAA1841,KIF3C,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00309,LINC00486,LIPT1,LMAN2L,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506123,LOC100506474,LOC100630918,LOC1720,LOC284950,LOC285033,LOC285074,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC442028,LOC644838,LOC645949,LOC654342,LOC728537,LOC728730,LOC728819,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,LYG1,LYG2,MAL,MAP4K3,MAPRE3,MAT2A,MATN3,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MGAT4A,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3127,MIR3682,MIR4262,MIR4263,MIR4264,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MIR5696,MITD1,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCAPH,NCOA1,NEURL3,NFU1,NLRC4,NMS,NOTO,NPAS2,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDCL3,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PROM2,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNF103,RNF103-CHMP3,RNF149,RNF181,RPIA,RPL23AP32,RPL31,RPS27A,RTKN,RTN4,SDC1,SEMA4C,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STARD7,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TBC1D8,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM17,TMEM178A,TMEM214,TMEM247,TMSB10,TP53I3,TPRKB,TRABD2A,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSPYL6,TTC27,TTC31,TTC32,TTC7A,TXNDC9,UBXN2A,UCN,UGP2,UNC50,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,ZAP70,ZFP36L2,ZNF2,ZNF512,ZNF513,ZNF514,ZNF638 chr2 11800000 49691432 Loss Chordoma Array CGH 21602918 ABCG5,ABCG8,ABHD1,ADCY3,AGBL5,ALK,APOB,ARHGEF33,ASXL2,ATAD2B,ATL2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EPAS1,EPCAM,EPT1,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FBXO11,FEZ2,FKBP1B,FLJ12334,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HS1BP3,IFT172,ITSN2,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIF3C,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LHCGR,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506474,LOC375196,LOC388942,LOC388948,LOC645949,LOC728730,LOC728819,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MCFD2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4262,MIR4263,MIR4757,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MYADML,MYCN,MYCNOS,NBAS,NCOA1,NLRC4,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,OSR1,OST4,OTOF,OXER1,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PREB,PREPL,PRKCE,PRKD3,PTRHD1,PUM2,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,SDC1,SF3B14,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SNORD53,SNORD92,SNX17,SOCS5,SOS1,SPAST,SPDYA,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TCF23,THADA,THUMPD2,TMEM178A,TMEM214,TMEM247,TP53I3,TRIB2,TRIM54,TRMT61B,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,ZFP36L2,ZNF512,ZNF513 chr21 18000050 18000679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 18016304 18035171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 18021031 18029742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 118026932 118026997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18027159 18027259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18041452 18041525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18083156 18113574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 18083156 18113574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 18083163 18113539 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 18086995 18112513 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 11810027 11812561 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NTSR2 chr2 118107574 118107679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118114059 118154550 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 18128676 18128776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18185899 18185987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 18188381 18188652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 18188381 18188686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 18195451 18561561 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr21 18195451 18561561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 18195451 18561561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 118204178 118204218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18228199 18808385 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 NOT_FOUND chr21 18246901 18252900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr21 18246966 18247066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118265173 118265273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18267267 25544603 Copy number loss Normal High-resolution SNP genotyping 21211785 BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,D21S2088E,LINC00308,LINC00317,LINC00320,NCAM2,RNU6-67,TMPRSS15 chr2 118285741 118314082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 118288485 118306183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 118288725 118306423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 118288725 118306423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 118291310 130333437 Deletion Acute myeloid leukemia - 21251322 AMMECR1L,BIN1,C1QL2,C2orf76,CCDC93,CLASP1,CNTNAP5,CYP27C1,DBI,DDX18,EN1,EPB41L5,ERCC3,GLI2,GPR17,GYPC,HS6ST1,INHBB,INSIG2,IWS1,LIMS2,LOC254128,LOC84931,MAP3K2,MARCO,MIR4783,MKI67IP,MYO7B,PCDP1,POLR2D,PROC,PTPN4,RALB,RNU4ATAC,SAP130,SCTR,SFT2D3,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37,TSN,UGGT1,WDR33 chr21 18313906 18314006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118333233 118377144 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 118333510 118377384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 18353401 18376756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 18363407 18363507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18368401 18368493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11837338 11918129 Gain and loss Pancreatic cancer SNP array 17952125 LPIN1 chr2 118374457 118374557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118389524 118488179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 118389524 118488179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 118390396 118390500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 118391716 118391816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118393402 118487939 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 118408071 118408835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 118422000 118422096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118434730 118434830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118447979 118448028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11845172 11845271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPIN1 chr2 118456133 118456244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 118474908 118475008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118490189 118490475 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 118490428 118490713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 118490429 118490715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 118497427 118497527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18539021 18561553 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 18539021 18561558 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 18554461 18902168 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1169K arrays 21546498 C21orf37,CXADR chr21 18561373 18563952 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 118562280 118583826 Gain and loss Pancreatic cancer SNP array 17952125 DDX18 chr2 118562520 118584066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX18 chr2 118562520 118584066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX18 chr21 18563561 18697844 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr21 18563561 18697844 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 18563561 18697844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 18563561 18697844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 18563561 18697844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 18590848 19214924 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL-AS1,CXADR chr21 18590848 21050970 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BTG3,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,TMPRSS15 chr2 118597849 118598874 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 118597874 118598757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 118597881 118598728 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 118600000 122100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C1QL2,C2orf76,CCDC93,CLASP1,DBI,EN1,EPB41L5,GLI2,INHBB,INSIG2,LOC84931,MARCO,PCDP1,PTPN4,RALB,SCTR,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37 chr2 118600000 122100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C1QL2,C2orf76,CCDC93,CLASP1,DBI,EN1,EPB41L5,GLI2,INHBB,INSIG2,LOC84931,MARCO,PCDP1,PTPN4,RALB,SCTR,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37 chr2 118600000 122100000 Gain Adenocarcinoma array-CGH 19607727 C1QL2,C2orf76,CCDC93,CLASP1,DBI,EN1,EPB41L5,GLI2,INHBB,INSIG2,LOC84931,MARCO,PCDP1,PTPN4,RALB,SCTR,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37 chr2 118600000 122100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 C1QL2,C2orf76,CCDC93,CLASP1,DBI,EN1,EPB41L5,GLI2,INHBB,INSIG2,LOC84931,MARCO,PCDP1,PTPN4,RALB,SCTR,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37 chr2 118600000 122100000 Gain Squamous cell cancer array-CGH 19607727 C1QL2,C2orf76,CCDC93,CLASP1,DBI,EN1,EPB41L5,GLI2,INHBB,INSIG2,LOC84931,MARCO,PCDP1,PTPN4,RALB,SCTR,STEAP3,TFCP2L1,TMEM177,TMEM185B,TMEM37 chr2 118600000 191600000 Loss Glioblastoma multiforme conventional CGH 21080181 ABCB11,ACMSD,ACVR1,ACVR1C,ACVR2A,AGPS,AMMECR1L,ANKAR,ANKRD30BL,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,ASNSD1,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,BIN1,C1QL2,C2orf27A,C2orf27B,C2orf76,C2orf88,CACNB4,CALCRL,CCDC115,CCDC141,CCDC148,CCDC148-AS1,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CD302,CDCA7,CERKL,CERS6,CFC1,CFC1B,CHN1,CHRNA1,CIR1,CLASP1,CNTNAP5,COBLL1,COL3A1,COL5A2,CSRNP3,CWC22,CXCR4,CYBRD1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DCAF17,DFNB59,DHRS9,DIRC1,DKFZp686O1327,DLX1,DLX2,DNAJC10,DPP4,DUSP19,DYNC1I2,EN1,EPB41L5,EPC2,ERCC3,ERMN,EVX2,FAM123C,FAM168B,FAM171B,FAP,FASTKD1,FIGN,FKBP7,FMNL2,FRZB,FSIP2,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GLI2,GORASP2,GPD2,GPR148,GPR155,GPR17,GPR39,GRB14,GTDC1,GULP1,GYPC,HAT1,HIBCH,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,IFIH1,IMP4,INHBB,INPP1,INSIG2,ITGA4,ITGA6,ITGAV,ITGB6,IWS1,KBTBD10,KCNH7,KCNJ3,KIAA1715,KIF5C,KLHL23,KYNU,LCT,LIMS2,LOC100129961,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100505695,LOC100506124,LOC100506134,LOC100507600,LOC100861402,LOC150776,LOC254128,LOC285084,LOC375295,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC440925,LOC646743,LOC647012,LOC84931,LRP1B,LRP2,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MAP3K2,MARCH7,MARCO,MBD5,MCM6,METAP1D,METTL5,METTL8,MFSD6,MGAT5,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR3128,MIR3129,MIR3606,MIR3679,MIR4437,MIR4444-1,MIR4773-1,MIR4773-2,MIR4774,MIR4783,MIR4784,MIR4785,MIR548N,MIR561,MIR663B,MIR933,MKI67IP,MLK7-AS1,MMADHC,MSTN,MTX2,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NCKAP1,NCKAP5,NEB,NEUROD1,NFE2L2,NMI,NOSTRIN,NR4A2,NUP35,NXPH2,OLA1,ORC4,ORMDL1,OSBPL6,OSGEPL1,PABPC1P2,PCDP1,PDE11A,PDE1A,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLEKHA3,PLEKHB2,PMS1,POLR2D,POTEE,POTEF,PPIG,PPP1R1C,PRKRA,PROC,PRPF40A,PSMD14,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RALB,RAPGEF4,RAPGEF4-AS1,RBM43,RBM45,RBMS1,RIF1,RND3,RNU4ATAC,RNU6-81,RPRM,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SESTD1,SFT2D3,SLC25A12,SLC38A11,SLC40A1,SLC4A10,SMPD4,SNORA70F,SP3,SP5,SP9,SPC25,SPOPL,SSB,SSFA2,STAM2,STEAP3,STK39,TANC1,TANK,TBR1,TFCP2L1,TFPI,THSD7B,TISP43,TLK1,TMEM163,TMEM177,TMEM185B,TMEM194B,TMEM37,TNFAIP6,TSN,TTC21B,TTC30A,TTC30B,TTN,TTN-AS1,TUBA3D,TUBA3E,UBE2E3,UBR3,UBXN4,UGGT1,UPP2,WDR33,WDR75,WDSUB1,WIPF1,WTH3DI,XIRP2,YSK4,ZAK,ZC3H15,ZEB2,ZEB2-AS1,ZNF385B,ZNF804A,ZRANB3,ZSWIM2 chr21 18602217 19160941 LOH Normal High-resolution SNP genotyping 21211785 BTG3,C21orf37,C21orf91-OT1,CXADR chr21 18612249 18645451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 11861294 11870017 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPIN1 chr2 118622600 118622751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 18710858 18724186 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 118730050 118735252 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CCDC93 chr2 118758712 118803810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC93 chr2 118763118 118763388 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC93 chr2 118767211 118767297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC93 chr2 1187715 1211081 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNTG2 chr21 18784055 18784155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118800000 135100000 Loss Prostate cancer Array CGH 16573809 AMMECR1L,ANKRD30BL,ARHGEF4,BIN1,C1QL2,C2orf27A,C2orf27B,C2orf76,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CLASP1,CNTNAP5,CYP27C1,CYP4F30P,DBI,EN1,EPB41L5,ERCC3,FAM123C,FAM168B,GLI2,GPR148,GPR17,GPR39,GYPC,HS6ST1,IMP4,INHBB,INSIG2,IWS1,LIMS2,LOC100131320,LOC100216479,LOC150776,LOC254128,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,LOC84931,LYPD1,MAP3K2,MARCO,MGAT5,MIR3679,MIR4783,MIR4784,MIR663B,MKI67IP,MYO7B,MZT2A,MZT2B,NCKAP5,PCDP1,PLEKHB2,POLR2D,POTEE,POTEF,PROC,PTPN18,PTPN4,RAB6C,RALB,RNU4ATAC,RNU6-81,SAP130,SCTR,SFT2D3,SMPD4,STEAP3,TFCP2L1,TISP43,TMEM177,TMEM185B,TMEM37,TSN,TUBA3D,TUBA3E,UGGT1,WDR33,WTH3DI chr21 18835924 18836264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 18838522 18838601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118891762 118891819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 118893306 119451721 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr21 18896460 18896582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CXADR chr2 118916869 118916969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18923692 18953705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CXADR chr2 118938221 118938321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18949665 18949815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CXADR chr21 18966702 19002805 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BTG3 chr21 18969790 18969873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BTG3 chr21 18979790 19000295 Gain Autism qPCR, Agilent1M 20531469 BTG3 chr2 118984129 118984229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 18992888 18992988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19045752 19046067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 19099642 19099737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11910001 11914200 Deletion Glioma mate-paired sequence 20126413 LPIN1 chr21 19137402 19137502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119138536 119138589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119138767 119138867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19151917 19152662 Gain and loss Pancreatic cancer SNP array 17952125 C21orf91-OT1 chr21 19151924 19152671 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C21orf91-OT1 chr21 19151924 19152671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C21orf91-OT1 chr21 19153389 19153458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C21orf91-OT1 chr2 11915677 11915777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPIN1 chr2 119175016 119175104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19175861 19175958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C21orf91 chr2 119186334 119186409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 119215137 119345192 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 119217477 119217551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19220000 22290000 Loss Breast cancer aCGH 21509527 CHODL,CHODL-AS1,LINC00320,TMPRSS15 chr21 19232466 20260482 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHODL,CHODL-AS1,TMPRSS15 chr2 119240822 119240916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119266458 119305921 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 119281001 119307000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 11928361 11960960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPIN1 chr2 119307001 119334000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 119316003 119321989 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 119316217 119322229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119316217 119322229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 19324253 20013386 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CHODL,TMPRSS15 chr21 19339531 19339631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHODL chr21 19345809 19348672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHODL chr2 119351207 119376874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 119352969 119353066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119359907 119388277 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 119367048 119403036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 11936890 11942059 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LPIN1 chr2 119369788 119375838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 119376889 119376969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19381183 19684413 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHODL,TMPRSS15 chr21 19391685 19417850 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHODL chr2 1193952 1194004 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNTG2 chr2 119415973 119468460 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 119416215 119468706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119416215 119468706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119430458 119430594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 119443001 119500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 119447872 119447972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19449342 19449427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHODL chr2 1194675 1194863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 119469717 119519537 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 119473422 119473522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119474239 119474994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 1194761 1194861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 1194850 1195090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr21 19489991 19496106 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 CHODL chr2 119507171 119507649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 19517093 19517313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHODL chr21 19517200 19517300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHODL chr21 19517306 19517469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHODL chr21 195336627 195339090 Gain or loss Breast cancer - 20668451 NOT_FOUND chr21 195336627 195339090 Gain or loss Cancer - 20668451 NOT_FOUND chr21 195336627 195339090 Gain or loss Lung cancer - 20668451 NOT_FOUND chr21 195336627 195339090 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr21 195336627 195339090 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr21 195336627 195339090 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr21 19537724 19537824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHODL chr21 19538731 19540580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHODL chr2 119560095 119560195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 11956730 12796508 Gain Bladder cancer array-CGH 21909424 LPIN1,MIR4262 chr2 11957750 12002768 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPIN1,MIR4262 chr2 119591501 119739500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EN1,MARCO chr2 119617758 119617843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119630049 119632695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 119630289 119632941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119630289 119632941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 19639336 19639500 Gain and loss Pancreatic cancer SNP array 17952125 CHODL chr21 19639336 19639500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHODL chr21 19642192 19642277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMPRSS15 chr2 119643628 119643921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 119643868 119644161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119660138 119660238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19683194 19683269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMPRSS15 chr2 119697614 119739455 Gain and loss Pancreatic cancer SNP array 17952125 MARCO chr2 119697854 119739698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCO chr2 119697854 119739698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCO chr2 119699414 119699472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19702895 19702966 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS15 chr21 19711872 19711941 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS15 chr2 119720509 119720609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCO chr2 119726479 119726579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCO chr21 19734357 19773065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMPRSS15 chr21 19741429 19741529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMPRSS15 chr21 19744931 21665674 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 TMPRSS15 chr21 1 9747000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 19758802 19765200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMPRSS15 chr2 119762004 119766312 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 119762079 119767005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 119762233 119767107 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 119762233 119767107 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr21 19769231 19769331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMPRSS15 chr2 119774572 119774672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119776032 119840608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 119776271 119840876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119776271 119840876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 19785302 46944323 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00479,LINC00515,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 119792420 119792520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19824008 19838528 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 19825303 19839462 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 119830741 119830821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119840815 119846346 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 119840974 119846592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119840974 119846592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 19863957 19865623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 19888026 19888293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119903947 119912566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119903947 119912566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 119904001 119916500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1QL2 chr21 19905117 19905217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 19905222 19905402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119905710 119911246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 119913651 119998297 Gain and loss Pancreatic cancer SNP array 17952125 C1QL2,STEAP3 chr2 119913888 119998498 Gain or loss Breast cancer - 20668451 C1QL2,STEAP3 chr2 119913888 119998498 Gain or loss Cancer - 20668451 C1QL2,STEAP3 chr2 119913888 119998498 Gain or loss Lung cancer - 20668451 C1QL2,STEAP3 chr2 119913888 119998498 Gain or loss Ovarian cancer - 20668451 C1QL2,STEAP3 chr2 119913888 119998498 Gain or loss Pancreas cancer - 20668451 C1QL2,STEAP3 chr2 119913888 119998498 Gain or loss Prostate cancer - 20668451 C1QL2,STEAP3 chr2 119913891 119998537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QL2,STEAP3 chr2 119913891 119998537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QL2,STEAP3 chr2 119916501 119947500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 119920608 119920728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119922501 119922575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119923115 119923189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 19931088 19931188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 119947501 119958500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 119958501 120214500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf76,DBI,SCTR,STEAP3,TMEM37 chr21 19975756 20007076 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 120018513 120130706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf76,DBI,STEAP3 chr2 120018513 120130706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf76,DBI,STEAP3 chr2 120019365 120019458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STEAP3 chr21 20033894 20034335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 120034526 120034615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 20053544 20054277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 20053544 20054277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 120060658 120060758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf76 chr21 20069820 20069915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 120078542 120130466 Gain and loss Pancreatic cancer SNP array 17952125 C2orf76,DBI chr2 120082065 120082165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf76 chr21 20125771 20192190 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 120133668 120134965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 20134791 20134866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 120152973 120155924 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 120153213 120160553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 120153213 120160553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 20209460 20209534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 120233437 120451267 Gain and loss Pancreatic cancer SNP array 17952125 PCDP1,SCTR,TMEM177 chr2 120233677 120451507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCDP1,SCTR,TMEM177 chr2 120233677 120451507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDP1,SCTR,TMEM177 chr2 120234271 120234371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCTR chr21 20260482 26428578 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 D21S2088E,LINC00308,LINC00317,LINC00320,LOC339622,NCAM2,RNU6-67 chr2 120275914 120275969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCTR chr2 120299419 120299493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 20324371 20324448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 20324501 20326500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 120345227 120345390 Gain and loss Pancreatic cancer SNP array 17952125 PCDP1 chr2 120345467 120345630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDP1 chr2 120356811 120356911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDP1 chr2 120391124 120391216 Gain and loss Pancreatic cancer SNP array 17952125 PCDP1 chr2 120391364 120391456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDP1 chr2 12039565 12039635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 120399152 120399252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDP1 chr21 20430184 20431664 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 120437708 120470637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM177 chr2 120486899 120652924 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120487139 120653164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr2 120487139 120653164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr21 20508038 20508206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 12051076 12051176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 20543780 20545897 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 1205470 1234009 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNTG2 chr21 20548744 20560721 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 120622025 120622109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPN4 chr21 20637992 20877335 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 20649689 20649762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 20649931 20650035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 20649931 20650035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 20650837 20651010 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 20650837 20651010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 120666051 120666161 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120666051 120666162 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120666291 120666403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr2 120677501 121771000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPB41L5,GLI2,INHBB,LOC84931,PTPN4,RALB,TMEM185B chr21 20682517 20683028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 1206831 1217166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SNTG2 chr2 120686673 120686740 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120686913 120686980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr2 120687083 120687149 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120687323 120687389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr2 120688867 120688924 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120688925 120688995 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120689107 120689164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr2 120689165 120689235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr2 120695730 120696782 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120695970 120697022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr21 20706396 29386556 Deletion Acute myeloid leukemia - 21251322 ADAMTS1,ADAMTS5,APP,ATP5J,CYYR1,D21S2088E,GABPA,JAM2,LINC00113,LINC00158,LINC00308,LINC00314,LINC00317,LINC00320,LINC00515,LOC339622,MIR155,MIR155HG,MIR4759,MIR5009,MRPL39,NCAM2,RNU6-67 chr21 20713447 21285774 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1167K arrays 21546498 NOT_FOUND chr21 20719168 20720177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 20719219 20720177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 20722523 20757493 Loss,gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 20722523 20757493 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 20724626 20724945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 120726644 120768515 Gain and loss Pancreatic cancer SNP array 17952125 PTPN4 chr2 120726883 120768756 Gain or loss Breast cancer - 20668451 PTPN4 chr2 120726883 120768756 Gain or loss Cancer - 20668451 PTPN4 chr2 120726883 120768756 Gain or loss Lung cancer - 20668451 PTPN4 chr2 120726883 120768756 Gain or loss Ovarian cancer - 20668451 PTPN4 chr2 120726883 120768756 Gain or loss Pancreas cancer - 20668451 PTPN4 chr2 120726883 120768756 Gain or loss Prostate cancer - 20668451 PTPN4 chr2 120726883 120768756 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 PTPN4 chr2 120726884 120768755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr2 120726884 120768755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN4 chr2 120740266 120740346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPN4 chr21 20761698 20761798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 120767953 120813218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPB41L5 chr21 20781647 23165198 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00317,LINC00320,NCAM2,RNU6-67 chr21 20801914 20976458 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr2 120819229 120825204 Gain and loss Pancreatic cancer SNP array 17952125 EPB41L5 chr2 120820189 120825853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPB41L5 chr2 120820189 120825853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPB41L5 chr21 20823867 20829611 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 12082869 12116437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 120850984 120883639 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPB41L5 chr2 120885503 120885603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPB41L5 chr2 120890619 120914979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPB41L5 chr2 1 209100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AAK1,ABCB11,ABCG5,ABCG8,ABHD1,ABI2,ACMSD,ACOXL,ACP1,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGBL5,AGPS,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANTXR1,ANXA4,AOX1,AOX2P,APLF,APOB,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASAP2,ASB3,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,BAZ2B,BBS5,BCL11A,BCL2L11,BIN1,BIRC6,BMP10,BMPR2,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf88,C2orf91,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC115,CCDC121,CCDC138,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHRNA1,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL5A2,COLEC11,COMMD1,COQ10B,COX5B,COX7A2L,CPO,CPSF3,CREB1,CREG2,CRIM1,CRIPT,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTLA4,CTNNA2,CWC22,CXCR4,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27C1,CYP4F30P,CYS1,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DFNB59,DGUOK,DHRS9,DHX57,DIRC1,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP19,DUSP2,DYNC1I2,DYNC2LI1,DYSF,DYTN,E2F6,EDAR,EEF1B2,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPT1,ERCC3,ERLEC1,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM117B,FAM123C,FAM126B,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FMNL2,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GLS,GMCL1,GNLY,GORASP2,GPAT2,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HEATR5B,HECW2,HIBCH,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTRA2,IAH1,ICA1L,ICOS,ID2,IFIH1,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INSIG2,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITPRIPL1,ITSN2,IWS1,KANSL3,KBTBD10,KCMF1,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF3C,KIF5C,KLF11,KLF7,KLHL23,KLHL29,KRCC1,KRTCAP3,KYNU,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LIPT1,LMAN2L,LOC100129726,LOC100129961,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC151009,LOC1720,LOC200726,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC645949,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR216A,MIR216B,MIR217,MIR2355,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3606,MIR3679,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOB4,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSTN,MTA3,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCOA1,NDUFB3,NDUFS1,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NIF3L1,NLRC4,NMI,NMS,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,ODC1,OLA1,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCL3,PDE11A,PDE1A,PDIA6,PDK1,PELI1,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PIGF,PKDCC,PKP4,PLA2R1,PLB1,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PRKRA,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTPN18,PTPN4,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNU4ATAC,RNU6-81,ROCK2,RPIA,RPL23AP32,RPL23AP7,RPL31,RPRM,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SAP130,SATB2,SATB2-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SH2D6,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC1A4,SLC20A1,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA80B,SNORD11,SNORD11B,SNORD51,SNORD53,SNORD70,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP3,SP5,SP9,SPAST,SPATS2L,SPC25,SPDYA,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK17B,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLK1,TLX2,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TP53I3,TPO,TPRKB,TRABD2A,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTN,TTN-AS1,TUBA3D,TUBA3E,TXNDC9,TYW5,UBE2E3,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UNC50,UNQ6975,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WASH2P,WBP1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR75,WDR92,WDSUB1,WIPF1,WTH3DI,XDH,XIRP2,XPO1,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFP36L2,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr21 20921871 20926081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 120930000 122100000 Loss Breast cancer aCGH 21509527 CLASP1,EPB41L5,GLI2,INHBB,LOC84931,RALB,TFCP2L1,TMEM185B chr2 120938965 121350605 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 INHBB,LOC84931,RALB,TMEM185B chr2 120939383 120939916 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 20973798 20973866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 120979959 120980059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM185B chr2 121010413 121052286 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 RALB chr21 21064510 21497775 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr2 121071888 121071933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121076163 121076263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121104265 121104320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INHBB chr21 21109708 21109808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21122316 21122838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 21122316 21782354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 121125005 121126099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 121125079 121125178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 121125082 121125178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 121125206 121125305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121125319 121125420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 12114284 12115335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 21148687 21166248 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr2 121182016 121182142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 12121027 12121096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 21218768 21252188 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 121219 65256382 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABCG5,ABCG8,ABHD1,ACP1,ACYP2,ADAM17,ADCY3,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASB3,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,CMPK2,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DBIL5P2,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MDH1,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OTX1,OXER1,PAPOLG,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PQLC3,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SERTAD2,SF3B14,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA70B,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr21 21231623 21783540 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr2 12124000 17794000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 DDX1,FAM49A,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,RAD51AP2,TRIB2,VSNL1 chr2 121260753 121260853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121271095 121464481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 121271335 121466321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 121271335 121466321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 121271336 121449155 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 121271336 121449155 Gain or loss Cancer - 20668451 NOT_FOUND chr2 121271336 121449155 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 121271336 121449155 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 121271336 121449155 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 121271336 121449155 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 121275258 121275337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121278769 121278869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121278825 142976150 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACMSD,AMMECR1L,ANKRD30BL,ARHGEF4,BIN1,C2orf27A,C2orf27B,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CCNT2,CFC1,CFC1B,CLASP1,CNTNAP5,CXCR4,CYP27C1,CYP4F30P,DARS,ERCC3,FAM123C,FAM168B,GLI2,GPR148,GPR17,GPR39,GYPC,HNMT,HS6ST1,IMP4,IWS1,LCT,LIMS2,LOC100129961,LOC100131320,LOC100216479,LOC100507600,LOC150776,LOC254128,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,LOC647012,LRP1B,LYPD1,MAP3K2,MCM6,MGAT5,MIR128-1,MIR3679,MIR4783,MIR4784,MIR663B,MKI67IP,MYO7B,MZT2A,MZT2B,NCKAP5,NXPH2,PLEKHB2,POLR2D,POTEE,POTEF,PROC,PTPN18,R3HDM1,RAB3GAP1,RAB6C,RNU4ATAC,RNU6-81,SAP130,SFT2D3,SMPD4,SPOPL,TFCP2L1,THSD7B,TISP43,TMEM163,TSN,TUBA3D,TUBA3E,UBXN4,UGGT1,WDR33,WTH3DI,YSK4,ZRANB3 chr21 21292504 21833085 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 21292504 21837521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 21292504 21837521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 121317913 121351140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 21324309 21324526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21324527 21324748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21324546 21324646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121332503 121367589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 21351501 21382078 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 121355735 121355783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121365323 121365423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121400598 121400688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21416320 30190441 Loss Developmental delay affymetrix genechip 500K/SNP 6.79 array 21147756 ADAMTS1,ADAMTS5,APP,ATP5J,CYYR1,D21S2088E,GABPA,JAM2,LINC00113,LINC00158,LINC00161,LINC00308,LINC00314,LINC00317,LINC00320,LINC00515,LOC339622,MIR155,MIR155HG,MIR4759,MIR5009,MRPL39,NCAM2,RNU6-67 chr2 121420772 121420872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21425250 21425323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21431414 21431514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21450849 21450969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21459877 21953812 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 121471909 121472009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121481627 121481717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121498500 121498957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 21500001 25000000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 D21S2088E,LINC00308,LINC00317,LINC00320,NCAM2,RNU6-67 chr2 121500476 156109000 Loss Prostate cancer Array CGH 18632612 ACMSD,ACVR2A,AMMECR1L,ANKRD30BL,ARHGAP15,ARHGEF4,ARL5A,ARL6IP6,BIN1,C2orf27A,C2orf27B,CACNB4,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CCNT2,CFC1,CFC1B,CLASP1,CNTNAP5,CXCR4,CYP27C1,CYP4F30P,DARS,DKFZp686O1327,EPC2,ERCC3,FAM123C,FAM168B,FMNL2,GALNT13,GLI2,GPR148,GPR17,GPR39,GTDC1,GYPC,HNMT,HS6ST1,IMP4,IWS1,KCNJ3,KIF5C,KYNU,LCT,LIMS2,LOC100129961,LOC100131320,LOC100144595,LOC100216479,LOC100507600,LOC150776,LOC254128,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,LOC647012,LRP1B,LYPD1,LYPD6,LYPD6B,MAP3K2,MBD5,MCM6,MGAT5,MIR128-1,MIR3679,MIR4773-1,MIR4773-2,MIR4783,MIR4784,MIR663B,MKI67IP,MMADHC,MYO7B,MZT2A,MZT2B,NCKAP5,NEB,NMI,NXPH2,ORC4,PABPC1P2,PLEKHB2,POLR2D,POTEE,POTEF,PROC,PRPF40A,PTPN18,R3HDM1,RAB3GAP1,RAB6C,RBM43,RIF1,RND3,RNU4ATAC,RNU6-81,RPRM,SAP130,SFT2D3,SMPD4,SPOPL,STAM2,TFCP2L1,THSD7B,TISP43,TMEM163,TNFAIP6,TSN,TUBA3D,TUBA3E,UBXN4,UGGT1,WDR33,WTH3DI,YSK4,ZEB2,ZEB2-AS1,ZRANB3 chr2 121507574 122903055 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLASP1,GLI2,LOC254128,MKI67IP,RNU4ATAC,TFCP2L1,TSN chr2 121509119 121509264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 121513996 121515257 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 121514276 121514869 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 121514418 121514516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 121514419 121514516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 121514656 121514756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 121524776 122851192 LOH Normal High-resolution SNP genotyping 21211785 CLASP1,GLI2,LOC254128,MKI67IP,RNU4ATAC,TFCP2L1,TSN chr2 121537691 121537758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21540421 21540516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121570046 121570146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLI2 chr21 21574767 21833085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 121590083 121590140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GLI2 chr2 121661806 122900317 LOH Normal High-resolution SNP genotyping 21211785 CLASP1,GLI2,LOC254128,MKI67IP,RNU4ATAC,TFCP2L1,TSN chr2 121664165 122900317 LOH Normal High-resolution SNP genotyping 21211785 CLASP1,GLI2,LOC254128,MKI67IP,RNU4ATAC,TFCP2L1,TSN chr2 121664323 121664641 Gain and loss Pancreatic cancer SNP array 17952125 GLI2 chr2 121664563 121664881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLI2 chr21 21691939 21692017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 121694763 121759008 Gain and loss Pancreatic cancer SNP array 17952125 GLI2 chr2 121695003 121759248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLI2 chr2 121695003 121759248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLI2 chr21 21695217 21695317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121696143 124456801 LOH Normal High-resolution SNP genotyping 21211785 CLASP1,GLI2,LOC254128,MKI67IP,RNU4ATAC,TFCP2L1,TSN chr2 121708363 121708463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLI2 chr21 21741662 21855238 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr21 21760935 21762294 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 121775367 121775455 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 121808641 121810169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 121811585 122123269 Gain and loss Pancreatic cancer SNP array 17952125 CLASP1,TFCP2L1 chr2 121811825 122123509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLASP1,TFCP2L1 chr2 121811825 122123509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASP1,TFCP2L1 chr21 21855256 21855310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 121890668 121890768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 21928644 21928920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 21928644 21928920 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 21928644 21928920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 21938099 21951942 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 121945038 121970483 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 121971966 121972061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 121999882 121999982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TFCP2L1 chr2 12200000 16700000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 DDX1,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,TRIB2 chr2 12200000 16700000 Deletion Prostate cancer Affymetrix 500K SNP arrays 19258504 DDX1,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,TRIB2 chr2 12200000 24000000 Amplification Neuroblastoma References 19638189 APOB,ATAD2B,C2orf43,DDX1,FAM49A,FAM84A,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC100506474,LOC645949,MATN3,MIR3125,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SMC6,TRIB2,TTC32,VSNL1,WDR35 chr2 12200000 24000000 Copy number Neuroblastoma Affymetrix 100K SNP arrays 19435921 APOB,ATAD2B,C2orf43,DDX1,FAM49A,FAM84A,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC100506474,LOC645949,MATN3,MIR3125,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SMC6,TRIB2,TTC32,VSNL1,WDR35 chr2 12200000 24000000 Copy number Neuroblastoma FISH 18574593 APOB,ATAD2B,C2orf43,DDX1,FAM49A,FAM84A,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC100506474,LOC645949,MATN3,MIR3125,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SMC6,TRIB2,TTC32,VSNL1,WDR35 chr2 12200000 24000000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 APOB,ATAD2B,C2orf43,DDX1,FAM49A,FAM84A,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC100506474,LOC645949,MATN3,MIR3125,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SMC6,TRIB2,TTC32,VSNL1,WDR35 chr2 12200000 32100000 Amplification Medulloblastoma CGH 16968546 ABHD1,ADCY3,AGBL5,ALK,APOB,ASXL2,ATAD2B,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GTF3C2,HADHA,HADHB,HS1BP3,IFT172,ITSN2,KCNK3,KCNS3,KHK,KIF3C,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LOC100505624,LOC100505716,LOC100506474,LOC645949,MAPRE3,MATN3,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4263,MIR4757,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,NBAS,NCOA1,NRBP1,NT5C1B,NT5C1B-RDH14,OSR1,OST4,OTOF,PFN4,PLB1,POMC,PPM1G,PPP1CB,PREB,PTRHD1,PUM2,RAB10,RAD51AP2,RBKS,RDH14,RHOB,SDC1,SF3B14,SLC30A3,SLC4A1AP,SLC5A6,SMC6,SNORD53,SNORD92,SNX17,SPDYA,SRD5A2,SUPT7L,TCF23,TMEM214,TP53I3,TRIB2,TRIM54,TRMT61B,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YPEL5,ZNF512,ZNF513 chr2 122004686 122004815 Gain and loss Pancreatic cancer SNP array 17952125 TFCP2L1 chr2 122004925 122004993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFCP2L1 chr21 22019167 22019267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 122037995 122198553 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CLASP1,TFCP2L1 chr2 122076881 122076970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 122076882 122076970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 122077119 122077210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 122085178 122085261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 122100000 129600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMMECR1L,BIN1,CLASP1,CNTNAP5,CYP27C1,ERCC3,GPR17,GYPC,HS6ST1,IWS1,LIMS2,LOC254128,MAP3K2,MIR4783,MKI67IP,MYO7B,POLR2D,PROC,RNU4ATAC,SAP130,SFT2D3,TSN,UGGT1,WDR33 chr2 122100000 129600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AMMECR1L,BIN1,CLASP1,CNTNAP5,CYP27C1,ERCC3,GPR17,GYPC,HS6ST1,IWS1,LIMS2,LOC254128,MAP3K2,MIR4783,MKI67IP,MYO7B,POLR2D,PROC,RNU4ATAC,SAP130,SFT2D3,TSN,UGGT1,WDR33 chr2 122100000 129600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AMMECR1L,BIN1,CLASP1,CNTNAP5,CYP27C1,ERCC3,GPR17,GYPC,HS6ST1,IWS1,LIMS2,LOC254128,MAP3K2,MIR4783,MKI67IP,MYO7B,POLR2D,PROC,RNU4ATAC,SAP130,SFT2D3,TSN,UGGT1,WDR33 chr21 22115759 22125230 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LINC00320 chr2 122118692 122118792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLASP1 chr2 122125433 122125540 Gain and loss Pancreatic cancer SNP array 17952125 CLASP1 chr2 122125673 122125780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASP1 chr2 122126279 122126379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLASP1 chr2 122132279 122132817 Gain and loss Pancreatic cancer SNP array 17952125 CLASP1 chr2 122182315 122182918 Gain and loss Pancreatic cancer SNP array 17952125 CLASP1 chr2 122182555 122183158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASP1 chr2 122200787 122210698 Gain and loss Pancreatic cancer SNP array 17952125 CLASP1 chr2 122201027 122210959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLASP1 chr2 122201027 122210959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASP1 chr2 12221040 12221822 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 122229351 122241659 Gain and loss Pancreatic cancer SNP array 17952125 CLASP1 chr2 122229591 122241899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLASP1 chr2 122229591 122241899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASP1 chr21 22238909 22239009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 22270000 25260000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 D21S2088E,LINC00308,LINC00317,NCAM2,RNU6-67 chr2 122280855 122281171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLASP1 chr2 122283601 122283701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLASP1 chr2 12229323 12229401 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr21 22332016 22535203 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NCAM2 chr2 122340226 122340279 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLASP1 chr2 122355375 122355475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLASP1 chr21 22370177 22370224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 122378200 122379811 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLASP1 chr21 22392807 22409027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAM2 chr2 122393161 122819888 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CLASP1,LOC254128,MKI67IP,TSN chr2 122400000 129900000 Amplification Medulloblastoma CGH 16968546 AMMECR1L,BIN1,CLASP1,CNTNAP5,CYP27C1,ERCC3,GPR17,GYPC,HS6ST1,IWS1,LIMS2,LOC254128,MAP3K2,MIR4783,MKI67IP,MYO7B,POLR2D,PROC,SAP130,SFT2D3,TSN,UGGT1,WDR33 chr2 122400000 129900000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 AMMECR1L,BIN1,CLASP1,CNTNAP5,CYP27C1,ERCC3,GPR17,GYPC,HS6ST1,IWS1,LIMS2,LOC254128,MAP3K2,MIR4783,MKI67IP,MYO7B,POLR2D,PROC,SAP130,SFT2D3,TSN,UGGT1,WDR33 chr21 22403658 22409027 Gain and loss Pancreatic cancer SNP array 17952125 NCAM2 chr21 22427965 22428054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM2 chr21 22433968 23477964 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00308,LINC00317,NCAM2,RNU6-67 chr2 122435424 124443002 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC254128,MKI67IP,TSN chr21 22448141 22448490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAM2 chr2 12246798 13284325 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100506474,MIR3125,TRIB2 chr2 122494123 122519996 Loss Normal Birdsuite, version 1.5.2 22087296 MKI67IP,TSN chr21 22499382 22499522 Gain and loss Pancreatic cancer SNP array 17952125 NCAM2 chr21 22499382 22499522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAM2 chr21 22499382 22499525 Gain and loss Pancreatic cancer SNP array 17952125 NCAM2 chr21 22526655 22551729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCAM2 chr21 22538599 22553418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCAM2 chr21 22542912 22563588 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCAM2 chr21 22563480 22601930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCAM2 chr21 22564731 22595775 Copy number Normal Birdsuite, version 1.5.2 22087296 NCAM2 chr21 22568394 22573005 Gain Normal Birdsuite, version 1.5.2 22087296 NCAM2 chr21 22573005 22577635 Gain Normal Birdsuite, version 1.5.2 22087296 NCAM2 chr21 22576288 22588190 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NCAM2 chr21 22576288 22588190 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NCAM2 chr21 22576772 22587865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCAM2 chr21 22576805 22583706 Deletion Medulloblastoma Illumina SNP arrays 21163964 NCAM2 chr21 22576944 22587370 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NCAM2 chr21 22576944 22587370 Total allelic loss Normal High-resolution SNP genotyping 21211785 NCAM2 chr21 22576944 22588249 Copy number loss Normal High-resolution SNP genotyping 21211785 NCAM2 chr21 22576944 22588249 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NCAM2 chr21 22576944 22588249 Total allelic loss Normal High-resolution SNP genotyping 21211785 NCAM2 chr21 22576944 22606303 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NCAM2 chr21 22576944 22606303 Total allelic loss Normal High-resolution SNP genotyping 21211785 NCAM2 chr21 22577635 22583018 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NCAM2 chr21 22581848 22588857 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NCAM2 chr21 22583018 22586529 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NCAM2 chr21 22586529 22588992 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NCAM2 chr21 22587370 25712786 Copy number loss Normal High-resolution SNP genotyping 21211785 D21S2088E,LINC00308,LINC00317,NCAM2,RNU6-67 chr21 22588992 22591163 Gain Normal Birdsuite, version 1.5.2 22087296 NCAM2 chr21 22603784 22615953 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NCAM2 chr21 22604105 22615953 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NCAM2 chr2 122614262 122614362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 122649952 123493856 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 22668545 22668601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCAM2 chr21 22668778 24107000 Heterozygous deletion Pleomorphic xanthoastrocytoma SNP array 20730472 LINC00308,LINC00317,NCAM2 chr21 22702953 22703053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM2 chr21 22730481 22730675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAM2 chr21 22746471 22746571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCAM2 chr2 122750194 122750284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 22753583 23334861 Copy number loss Normal High-resolution SNP genotyping 21211785 LINC00317,NCAM2 chr21 22753583 23334861 LOH Normal High-resolution SNP genotyping 21211785 LINC00317,NCAM2 chr2 122851336 122851436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 22871547 46944323 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00323,LINC00479,LINC00515,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 122874887 122874937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 12289583 19306523 Loss Prostate cancer Array CGH 18632612 DDX1,FAM49A,FAM84A,GEN1,KCNS3,LOC100506474,MIR3125,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,RAD51AP2,RDH14,SMC6,TRIB2,VSNL1 chr21 22900000 25800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 D21S2088E,LINC00308,LINC00317,NCAM2 chr21 22900000 25800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 D21S2088E,LINC00308,LINC00317,NCAM2 chr2 122949117 125093649 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 CNTNAP5 chr2 122964661 122964726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 122984678 123396727 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 12300000 46944323 Duplication Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABCG5,ABCG8,ABHD1,ADCY3,AGBL5,ALK,APOB,ARHGEF33,ASXL2,ATAD2B,ATL2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf53,C2orf56,C2orf70,C2orf71,C2orf91,CAD,CAMKMT,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EPAS1,EPT1,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FEZ2,FKBP1B,FLJ12334,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HS1BP3,IFT172,ITSN2,KCNG3,KCNK3,KCNS3,KHK,KIF3C,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00486,LOC100129726,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506474,LOC375196,LOC388942,LOC645949,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4263,MIR4757,MIR4765,MIR548AD,MIR558,MORN2,MPV17,MRPL33,MSGN1,MTA3,MYADML,MYCN,MYCNOS,NBAS,NCOA1,NLRC4,NRBP1,NT5C1B,NT5C1B-RDH14,OSR1,OST4,OTOF,OXER1,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,POMC,PPM1B,PPM1G,PPP1CB,PREB,PREPL,PRKCE,PRKD3,PTRHD1,PUM2,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,SDC1,SF3B14,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SNORD53,SNORD92,SNX17,SOCS5,SOS1,SPAST,SPDYA,SRBD1,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TCF23,THADA,THUMPD2,TMEM178A,TMEM214,TMEM247,TP53I3,TRIB2,TRIM54,TRMT61B,TTC27,TTC32,UBXN2A,UCN,UNQ6975,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,ZFP36L2,ZNF512,ZNF513 chr21 23008688 23010209 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 123019949 123990097 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 23036905 23036985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123075811 123075843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23077530 23077623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123079501 123083800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 123079726 123079778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 123081349 123081816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 123086462 123086811 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23096154 23163547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00317 chr21 23097650 23133034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00317 chr21 23098732 23132654 Loss Normal Birdsuite, version 1.5.2 22087296 LINC00317 chr2 123099209 123099309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 12310268 12310368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123113264 123646456 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 23130565 23130665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23146250 23146416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23146287 23146417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23146431 23146531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123154189 123399022 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr21 23176774 23178192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 123192219 123200401 Copy number Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 123192888 123198711 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 123192888 123198711 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 123193040 123193850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 123193377 123199027 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 123193377 123199027 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 123193473 123200110 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 123193761 123198939 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 123197294 123198771 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 123198711 123200401 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 123222002 123222102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23223686 23242688 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 123256863 123256963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123274416 123274516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123292463 137303164 Loss Developmental delay affymetrix genechip 500K/SNP 6.12 array 21147756 ACMSD,AMMECR1L,ANKRD30BL,ARHGEF4,BIN1,C2orf27A,C2orf27B,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CCNT2,CFC1,CFC1B,CNTNAP5,CXCR4,CYP27C1,CYP4F30P,DARS,ERCC3,FAM123C,FAM168B,GPR148,GPR17,GPR39,GYPC,HS6ST1,IMP4,IWS1,LCT,LIMS2,LOC100129961,LOC100131320,LOC100216479,LOC100507600,LOC150776,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,LYPD1,MAP3K2,MCM6,MGAT5,MIR128-1,MIR3679,MIR4783,MIR4784,MIR663B,MYO7B,MZT2A,MZT2B,NCKAP5,PLEKHB2,POLR2D,POTEE,POTEF,PROC,PTPN18,R3HDM1,RAB3GAP1,RAB6C,RNU6-81,SAP130,SFT2D3,SMPD4,TISP43,TMEM163,TUBA3D,TUBA3E,UBXN4,UGGT1,WDR33,WTH3DI,YSK4,ZRANB3 chr21 23296668 23297283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23317381 23443694 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 123330452 123330662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123330527 123330638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123330645 123330830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123330664 123330764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23345203 23356973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23351419 23355207 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 123357012 123357105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123362396 123362458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23384221 23386024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 123390245 123390339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23395416 23397267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 23412318 25389865 Copy number loss Normal High-resolution SNP genotyping 21211785 D21S2088E,LINC00308 chr21 23414326 23560617 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LINC00308 chr2 123415241 123415341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23421656 23524795 Loss Normal 244K array 17666407 LINC00308 chr21 23436259 25959062 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 D21S2088E,LINC00308 chr2 123437216 124099377 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr2 123437325 126399586 Loss Bladder cancer array-CGH 21909424 CNTNAP5 chr2 12344012 12344089 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23464039 23464217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23479938 23504261 Loss Normal Birdsuite, version 1.5.2 22087296 LINC00308 chr21 23498659 23498714 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr2 123499760 123499988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 123502227 124443002 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr21 23507277 23507377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23519142 23756756 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 123519995 123520135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23575929 23576102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 23575965 23576102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 23579335 23579565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23579447 23579568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23598247 23627924 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 23612582 23612677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23626190 23626446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23626194 23626299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23660211 23717235 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 23664104 23664417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23684450 23685188 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 23684450 23685188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 23701849 23702914 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 23701849 23703319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 123705605 123705934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23719590 23727782 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr21 23726372 23726473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 23726374 23726472 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 23726374 23726473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 23740781 23753957 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 23750817 23751135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 23752236 23752336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 12375523 12405112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 123760985 123761080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23762638 23762733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123770089 123806320 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 NOT_FOUND chr21 23770556 23807139 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr21 23817137 23817237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 23849356 23849456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123858169 123858269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123885101 123889000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 123886726 123887054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 12389143 12389243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 23900000 Deletion Neuroblastoma Agilent 44K and 244K platform aCGH 21508638 ACP1,ADAM17,ADI1,ALLC,APOB,ASAP2,ATP6V1C2,C2orf43,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,DDX1,E2F6,FAM110C,FAM150B,FAM49A,FAM84A,FLJ12334,FLJ33534,GDF7,GEN1,GREB1,GRHL1,HPCAL1,HS1BP3,IAH1,ID2,ITGB1BP1,KCNF1,KCNS3,KIDINS220,KLF11,KLHL29,LAPTM4A,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MATN3,MBOAT2,MIR3125,MIR4261,MIR4262,MIR4429,MIR4757,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NOL10,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,PDIA6,PQLC3,PUM2,PXDN,RAD51AP2,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SH3YL1,SMC6,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TPO,TRAPPC12,TRIB2,TSSC1,TTC32,VSNL1,WDR35,YWHAQ chr2 1 23900000 Loss Glioblastoma multiforme conventional CGH 21080181 ACP1,ADAM17,ADI1,ALLC,APOB,ASAP2,ATP6V1C2,C2orf43,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,DDX1,E2F6,FAM110C,FAM150B,FAM49A,FAM84A,FLJ12334,FLJ33534,GDF7,GEN1,GREB1,GRHL1,HPCAL1,HS1BP3,IAH1,ID2,ITGB1BP1,KCNF1,KCNS3,KIDINS220,KLF11,KLHL29,LAPTM4A,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MATN3,MBOAT2,MIR3125,MIR4261,MIR4262,MIR4429,MIR4757,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NOL10,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,PDIA6,PQLC3,PUM2,PXDN,RAD51AP2,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SH3YL1,SMC6,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TPO,TRAPPC12,TRIB2,TSSC1,TTC32,VSNL1,WDR35,YWHAQ chr2 123902832 123902932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 123919808 141066577 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 ACMSD,AMMECR1L,ANKRD30BL,ARHGEF4,BIN1,C2orf27A,C2orf27B,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CCNT2,CFC1,CFC1B,CNTNAP5,CXCR4,CYP27C1,CYP4F30P,DARS,ERCC3,FAM123C,FAM168B,GPR148,GPR17,GPR39,GYPC,HNMT,HS6ST1,IMP4,IWS1,LCT,LIMS2,LOC100129961,LOC100131320,LOC100216479,LOC100507600,LOC150776,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,LOC647012,LRP1B,LYPD1,MAP3K2,MCM6,MGAT5,MIR128-1,MIR3679,MIR4783,MIR4784,MIR663B,MYO7B,MZT2A,MZT2B,NCKAP5,NXPH2,PLEKHB2,POLR2D,POTEE,POTEF,PROC,PTPN18,R3HDM1,RAB3GAP1,RAB6C,RNU6-81,SAP130,SFT2D3,SMPD4,SPOPL,THSD7B,TISP43,TMEM163,TUBA3D,TUBA3E,UBXN4,UGGT1,WDR33,WTH3DI,YSK4,ZRANB3 chr2 123968628 124002799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 24000000 26800000 Deletion Lung cancer Relied on a multipoint score function 16773561 D21S2088E,LINC00158,LOC339622 chr2 124011106 124011180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 124011266 124042846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 24046446 24212469 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 124054747 124054919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 124054915 124055138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1240576 1240661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 124063928 124064928 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr2 124063968 124064968 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr21 24105422 24105521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 124156153 124156261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 124177917 124178017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24187863 24187917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24208318 24208625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 24218041 24221560 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 24240731 29938657 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ADAMTS1,ADAMTS5,APP,ATP5J,CYYR1,D21S2088E,GABPA,JAM2,LINC00113,LINC00158,LINC00161,LINC00314,LINC00515,LOC339622,MIR155,MIR155HG,MIR4759,MIR5009,MRPL39 chr21 24253604 24267758 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr21 24275094 24312332 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr2 124291972 124292072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 242951149 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABHD1,ABI2,ACADL,ACMSD,ACOXL,ACP1,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGAP1,AGBL5,AGFG1,AGPS,AGXT,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,APOB,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASAP2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BIRC6,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf54,C2orf56,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC121,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COLEC11,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CPSF3,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYS1,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNER,DNMT3A,DNPEP,DOCK10,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,E2F6,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF4E2,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,EPT1,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FLJ43879,FMNL2,FN1,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HDAC4,HDLBP,HEATR5B,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,IAH1,ICA1L,ICOS,ID2,IDH1,IDH1-AS1,IFIH1,IFT172,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITM2C,ITPRIPL1,ITSN2,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF1A,KIF3C,KIF5C,KLF11,KLF7,KLHL23,KLHL29,KLHL30,KRCC1,KRTCAP3,KYNU,LANCL1,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00471,LINC00486,LINC00487,LINC00570,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100286922,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC348761,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC645949,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MREG,MRPL19,MRPL30,MRPL33,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NCOA1,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NLRC4,NMI,NMS,NMUR1,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,NYAP2,OBSL1,ODC1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDIA6,PDK1,PECR,PELI1,PER2,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLB1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM44,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,ROCK2,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RPS7,RQCD1,RRM2,RSAD2,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A3,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORA80B,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD53,SNORD70,SNORD82,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPAST,SPATA3,SPATS2L,SPC25,SPDYA,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,THUMPD2,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TP53I3,TPO,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRIP12,TRMT61B,TRPM8,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VSNL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XDH,XIRP2,XPO1,XRCC5,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 1 242951149 Deletion,amplification Normal Affymetrix 250K SNP array 21412953 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABHD1,ABI2,ACADL,ACMSD,ACOXL,ACP1,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGAP1,AGBL5,AGFG1,AGPS,AGXT,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,APOB,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASAP2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BIRC6,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf54,C2orf56,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC121,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COLEC11,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CPSF3,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYS1,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNER,DNMT3A,DNPEP,DOCK10,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,E2F6,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF4E2,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,EPT1,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FLJ43879,FMNL2,FN1,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HDAC4,HDLBP,HEATR5B,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,IAH1,ICA1L,ICOS,ID2,IDH1,IDH1-AS1,IFIH1,IFT172,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITM2C,ITPRIPL1,ITSN2,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF1A,KIF3C,KIF5C,KLF11,KLF7,KLHL23,KLHL29,KLHL30,KRCC1,KRTCAP3,KYNU,LANCL1,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00471,LINC00486,LINC00487,LINC00570,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100286922,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC348761,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC645949,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MREG,MRPL19,MRPL30,MRPL33,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NCOA1,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NLRC4,NMI,NMS,NMUR1,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,NYAP2,OBSL1,ODC1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDIA6,PDK1,PECR,PELI1,PER2,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLB1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM44,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,ROCK2,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RPS7,RQCD1,RRM2,RSAD2,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A3,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORA80B,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD53,SNORD70,SNORD82,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPAST,SPATA3,SPATS2L,SPC25,SPDYA,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,THUMPD2,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TP53I3,TPO,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRIP12,TRMT61B,TRPM8,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VSNL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XDH,XIRP2,XPO1,XRCC5,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 1 242951149 Gain Ewing's sarcoma Karyotyping and CGH(Reference) 21437220 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABHD1,ABI2,ACADL,ACMSD,ACOXL,ACP1,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGAP1,AGBL5,AGFG1,AGPS,AGXT,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,APOB,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASAP2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BIRC6,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf54,C2orf56,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC121,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COLEC11,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CPSF3,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYS1,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNER,DNMT3A,DNPEP,DOCK10,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,E2F6,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF4E2,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,EPT1,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FLJ43879,FMNL2,FN1,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HDAC4,HDLBP,HEATR5B,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,IAH1,ICA1L,ICOS,ID2,IDH1,IDH1-AS1,IFIH1,IFT172,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITM2C,ITPRIPL1,ITSN2,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF1A,KIF3C,KIF5C,KLF11,KLF7,KLHL23,KLHL29,KLHL30,KRCC1,KRTCAP3,KYNU,LANCL1,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00471,LINC00486,LINC00487,LINC00570,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100286922,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC348761,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC645949,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MREG,MRPL19,MRPL30,MRPL33,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NCOA1,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NLRC4,NMI,NMS,NMUR1,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,NYAP2,OBSL1,ODC1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDIA6,PDK1,PECR,PELI1,PER2,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLB1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM44,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,ROCK2,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RPS7,RQCD1,RRM2,RSAD2,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A3,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORA80B,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD53,SNORD70,SNORD82,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPAST,SPATA3,SPATS2L,SPC25,SPDYA,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,THUMPD2,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TP53I3,TPO,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRIP12,TRMT61B,TRPM8,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VSNL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XDH,XIRP2,XPO1,XRCC5,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 1 242951149 Gain Glioblastoma multiforme aCGH 21080181 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABHD1,ABI2,ACADL,ACMSD,ACOXL,ACP1,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGAP1,AGBL5,AGFG1,AGPS,AGXT,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,APOB,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASAP2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BIRC6,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf54,C2orf56,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC121,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COLEC11,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CPSF3,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYS1,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNER,DNMT3A,DNPEP,DOCK10,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,E2F6,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF4E2,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,EPT1,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FLJ43879,FMNL2,FN1,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HDAC4,HDLBP,HEATR5B,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,IAH1,ICA1L,ICOS,ID2,IDH1,IDH1-AS1,IFIH1,IFT172,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITM2C,ITPRIPL1,ITSN2,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF1A,KIF3C,KIF5C,KLF11,KLF7,KLHL23,KLHL29,KLHL30,KRCC1,KRTCAP3,KYNU,LANCL1,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00471,LINC00486,LINC00487,LINC00570,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100286922,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC348761,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC645949,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MREG,MRPL19,MRPL30,MRPL33,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NCOA1,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NLRC4,NMI,NMS,NMUR1,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,NYAP2,OBSL1,ODC1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDIA6,PDK1,PECR,PELI1,PER2,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLB1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM44,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,ROCK2,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RPS7,RQCD1,RRM2,RSAD2,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A3,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORA80B,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD53,SNORD70,SNORD82,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPAST,SPATA3,SPATS2L,SPC25,SPDYA,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,THUMPD2,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TP53I3,TPO,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRIP12,TRMT61B,TRPM8,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VSNL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XDH,XIRP2,XPO1,XRCC5,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 1 242951149 Gain Medulloblastoma SNP arrays 21979893 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABHD1,ABI2,ACADL,ACMSD,ACOXL,ACP1,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGAP1,AGBL5,AGFG1,AGPS,AGXT,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,APOB,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASAP2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BIRC6,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf54,C2orf56,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC121,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COLEC11,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CPSF3,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYS1,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNER,DNMT3A,DNPEP,DOCK10,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,E2F6,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF4E2,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,EPT1,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FLJ43879,FMNL2,FN1,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HDAC4,HDLBP,HEATR5B,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,IAH1,ICA1L,ICOS,ID2,IDH1,IDH1-AS1,IFIH1,IFT172,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITM2C,ITPRIPL1,ITSN2,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF1A,KIF3C,KIF5C,KLF11,KLF7,KLHL23,KLHL29,KLHL30,KRCC1,KRTCAP3,KYNU,LANCL1,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00471,LINC00486,LINC00487,LINC00570,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100286922,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC348761,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC645949,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MREG,MRPL19,MRPL30,MRPL33,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NCOA1,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NLRC4,NMI,NMS,NMUR1,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,NYAP2,OBSL1,ODC1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDIA6,PDK1,PECR,PELI1,PER2,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLB1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM44,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,ROCK2,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RPS7,RQCD1,RRM2,RSAD2,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A3,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORA80B,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD53,SNORD70,SNORD82,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPAST,SPATA3,SPATS2L,SPC25,SPDYA,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,THUMPD2,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TP53I3,TPO,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRIP12,TRMT61B,TRPM8,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VSNL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XDH,XIRP2,XPO1,XRCC5,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 1 242951149 Trisomy Normal MAD tool 21586113 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABHD1,ABI2,ACADL,ACMSD,ACOXL,ACP1,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGAP1,AGBL5,AGFG1,AGPS,AGXT,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,APOB,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASAP2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BIRC6,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf54,C2orf56,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC121,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COLEC11,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CPSF3,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYS1,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNER,DNMT3A,DNPEP,DOCK10,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,E2F6,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF4E2,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,EPT1,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FLJ43879,FMNL2,FN1,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HDAC4,HDLBP,HEATR5B,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,IAH1,ICA1L,ICOS,ID2,IDH1,IDH1-AS1,IFIH1,IFT172,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITM2C,ITPRIPL1,ITSN2,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF1A,KIF3C,KIF5C,KLF11,KLF7,KLHL23,KLHL29,KLHL30,KRCC1,KRTCAP3,KYNU,LANCL1,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00471,LINC00486,LINC00487,LINC00570,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100286922,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC348761,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC645949,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MREG,MRPL19,MRPL30,MRPL33,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NCOA1,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NLRC4,NMI,NMS,NMUR1,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,NYAP2,OBSL1,ODC1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDIA6,PDK1,PECR,PELI1,PER2,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLB1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM44,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,ROCK2,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RPS7,RQCD1,RRM2,RSAD2,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A3,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORA80B,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD53,SNORD70,SNORD82,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPAST,SPATA3,SPATS2L,SPC25,SPDYA,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,THUMPD2,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TP53I3,TPO,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRIP12,TRMT61B,TRPM8,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VSNL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XDH,XIRP2,XPO1,XRCC5,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 1 243199373 Gain Ependymoma CGH 16718352 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABHD1,ABI2,ACADL,ACMSD,ACOXL,ACP1,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGAP1,AGBL5,AGFG1,AGPS,AGXT,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,APOB,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASAP2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BIRC6,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf54,C2orf56,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC121,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COLEC11,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CPSF3,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYS1,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNER,DNMT3A,DNPEP,DOCK10,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,E2F6,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF4E2,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,EPT1,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FLJ43879,FMNL2,FN1,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HDAC4,HDLBP,HEATR5B,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,IAH1,ICA1L,ICOS,ID2,IDH1,IDH1-AS1,IFIH1,IFT172,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITM2C,ITPRIPL1,ITSN2,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF1A,KIF3C,KIF5C,KLF11,KLF7,KLHL23,KLHL29,KLHL30,KRCC1,KRTCAP3,KYNU,LANCL1,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00471,LINC00486,LINC00487,LINC00570,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100286922,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC348761,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC645949,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728323,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MREG,MRPL19,MRPL30,MRPL33,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NCOA1,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NLRC4,NMI,NMS,NMUR1,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,NYAP2,OBSL1,ODC1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDIA6,PDK1,PECR,PELI1,PER2,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLB1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM44,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,ROCK2,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RPS7,RQCD1,RRM2,RSAD2,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A3,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORA80B,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD53,SNORD70,SNORD82,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPAST,SPATA3,SPATS2L,SPC25,SPDYA,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,THUMPD2,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TP53I3,TPO,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRIP12,TRMT61B,TRPM8,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VSNL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XDH,XIRP2,XPO1,XRCC5,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr21 24321830 24467318 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 124343045 124343377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 124343134 124343371 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 124343303 124343617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 124395110 124395159 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr21 24397873 24400587 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr21 24428203 24429961 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr21 24428203 24429961 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr21 24428759 24429900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 24476224 24516767 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 24496335 24570196 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 124499094 125389142 Gain and loss Pancreatic cancer SNP array 17952125 CNTNAP5 chr2 124499334 125389382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTNAP5 chr2 124499334 125389382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTNAP5 chr2 124500000 128700000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 AMMECR1L,BIN1,CNTNAP5,CYP27C1,ERCC3,GPR17,GYPC,IWS1,LIMS2,MAP3K2,MIR4783,MYO7B,POLR2D,PROC,SAP130,SFT2D3,WDR33 chr21 24520483 24520633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24533864 24533964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24540179 25065401 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 D21S2088E chr2 124541593 125477368 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTNAP5 chr21 24549200 24549411 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 124599797 124599897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 12460270 12460370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24608865 24705724 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr21 24615502 25274750 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 D21S2088E chr2 124624340 126048273 LOH Normal High-resolution SNP genotyping 21211785 CNTNAP5 chr21 24632057 24632475 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 124644258 125027736 Copy number Lung cancer paired-end sequencing 18438408 CNTNAP5 chr21 24655013 24694075 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 124671630 124671730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24673735 24696515 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 124674793 124674833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24688222 24712035 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 12468975 12469078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 124692198 124698947 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 124710640 126837248 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTNAP5 chr21 24722925 24784492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 D21S2088E chr21 24783141 24783635 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 24794913 24795013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24822192 24832631 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 24835110 24854814 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 124851467 124881241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTNAP5 chr21 24875291 24903126 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 24890109 24912536 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 124922202 124922302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr2 124925463 124925551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr21 24975506 24975606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24975511 24975682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 24977829 24977929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 125015240 125015314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr2 12502122 12502225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 125031266 125031416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr2 125034887 125036952 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CNTNAP5 chr2 125036832 125036923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr2 125041771 125654674 Copy number Lung cancer paired-end sequencing 18438408 CNTNAP5 chr2 125054064 125054156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr2 125067635 125067687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr21 25070442 25070530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 25107472 26076127 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 25113550 25114598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 25118483 25118558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 125127409 125127461 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTNAP5 chr2 125127678 125127735 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTNAP5 chr2 125144630 125144693 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTNAP5 chr2 125154731 125154800 Gain and loss Pancreatic cancer SNP array 17952125 CNTNAP5 chr2 125154971 125155040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTNAP5 chr2 125246640 125246728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr2 125254853 125875320 LOH Normal High-resolution SNP genotyping 21211785 CNTNAP5 chr2 125254853 125878440 LOH Normal High-resolution SNP genotyping 21211785 CNTNAP5 chr21 25281817 25286446 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 25308671 46892352 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CYYR1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00515,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 125334462 125334557 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTNAP5 chr2 125353294 126079777 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-353K arrays 21546498 CNTNAP5 chr2 125368402 125374832 Gain Normal Birdsuite, version 1.5.2 22087296 CNTNAP5 chr21 25395316 25395554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 25395316 25395631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25395316 25395646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 125418527 125418627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr2 125455259 126215449 LOH Normal High-resolution SNP genotyping 21211785 CNTNAP5 chr2 125463026 125463132 Gain and loss Pancreatic cancer SNP array 17952125 CNTNAP5 chr2 125463266 125463372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTNAP5 chr21 25463616 25628010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25473836 25473986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 125476548 126191901 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTNAP5 chr2 125483016 125484702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTNAP5 chr2 125483031 125484717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTNAP5 chr21 25496392 25496481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 25496392 25496500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 25498423 25531950 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 25518184 25708178 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 NOT_FOUND chr21 25548431 25548531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 25580899 25580967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 125598848 125598948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTNAP5 chr2 125602643 125602717 Gain and loss Pancreatic cancer SNP array 17952125 CNTNAP5 chr2 125602644 125602714 Gain and loss Pancreatic cancer SNP array 17952125 CNTNAP5 chr2 125602879 125602960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTNAP5 chr2 125607697 125652497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTNAP5 chr21 25655977 25656641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25655977 25656641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25656010 25657098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 125669198 125892376 Copy number Lung cancer paired-end sequencing 18438408 CNTNAP5 chr21 25680010 25725884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25680010 25725884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 125682111 126096806 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-352K arrays 21546498 NOT_FOUND chr2 125701432 127091766 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 25717629 25959062 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr21 25724085 25725498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 25747003 25747269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 25756854 26960676 Loss Prostate cancer Array CGH 18632612 LINC00158,LINC00515,LOC339622,MIR155,MIR155HG,MRPL39 chr21 25758144 25758244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 125783445 125783545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 25800000 30500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS1,ADAMTS5,APP,ATP5J,C21orf7,CCT8,CYYR1,GABPA,JAM2,LINC00113,LINC00158,LINC00161,LINC00314,LINC00515,LOC339622,LTN1,MIR155,MIR155HG,MIR4759,MIR5009,MRPL39,N6AMT1,RWDD2B,USP16 chr21 25800000 38600000 Breakpoint Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 ADAMTS1,ADAMTS5,APP,ATP5J,ATP5O,BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CBR1,CBR3,CBR3-AS1,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,CRYZL1,CYYR1,DNAJC28,DONSON,DOPEY2,DSCR3,DSCR6,DSCR9,FAM165B,FAM176C,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,JAM2,KCNE1,KCNE2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00113,LINC00158,LINC00159,LINC00160,LINC00161,LINC00189,LINC00307,LINC00310,LINC00314,LINC00515,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC339622,LTN1,MIR155,MIR155HG,MIR4327,MIR4759,MIR5009,MIR802,MIS18A,MORC3,MRAP,MRPL39,MRPS6,N6AMT1,OLIG1,OLIG2,PIGP,RCAN1,RUNX1,RUNX1-IT1,RWDD2B,SCAF4,SETD4,SIM2,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,TTC3,URB1,USP16 chr21 25868163 25868227 Amplification Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr21 25868163 25868227 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 25868163 25868227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 125876344 125876444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 25879839 25901672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25879839 25901672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25879841 25901672 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 25879841 25901672 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 125907531 132148801 Copy number Lung cancer paired-end sequencing 18438408 AMMECR1L,ARHGEF4,BIN1,CCDC115,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CYP27C1,CYP4F30P,ERCC3,FAM123C,FAM168B,GPR148,GPR17,GYPC,HS6ST1,IMP4,IWS1,LIMS2,LOC100131320,LOC100216479,LOC389033,LOC440905,LOC440910,LOC646743,MAP3K2,MIR4783,MYO7B,MZT2B,PLEKHB2,POLR2D,POTEE,POTEF,PROC,PTPN18,RAB6C,SAP130,SFT2D3,SMPD4,TISP43,TUBA3E,UGGT1,WDR33,WTH3DI chr2 125929477 125929577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 25931649 26568689 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC339622 chr21 25933455 26011745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25933455 26011745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25933460 26009106 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 25933460 26009106 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 25968747 28463474 Copy number gain Normal High-resolution SNP genotyping 21211785 ADAMTS1,ADAMTS5,APP,ATP5J,CYYR1,GABPA,JAM2,LINC00158,LINC00515,LOC339622,MIR155,MIR155HG,MIR4759,MRPL39 chr21 25968747 44596436 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCG1,ADAMTS1,ADAMTS5,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,C21orf88,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,CRYAA,CRYZL1,CYYR1,DNAJC28,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HUNK,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00189,LINC00307,LINC00310,LINC00314,LINC00323,LINC00479,LINC00515,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC339622,LTN1,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PIGP,PKNOX1,PLAC4,PRDM15,PSMG1,RCAN1,RIPK4,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SCAF4,SETD4,SH3BGR,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TTC3,U2AF1,UBASH3A,UMODL1,URB1,USP16,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 25968747 46944323 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CYYR1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00515,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 25968747 46944323 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CYYR1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00515,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 25986363 25986737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 25993440 25993540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126007566 126007666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26010686 26029855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 26010686 26029855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 26018683 26029855 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 26018683 26029855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 26020305 26020405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26028752 26066642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 26028752 26066642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 26028752 26066642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 26029570 26066213 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 126054190 126054279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26057120 26057515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 26057433 26568689 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC339622 chr2 126083101 126088500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 126084954 126086686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 126085391 126085491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126095058 126101812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 26097651 26100421 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 126107513 126107663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26116740 26163866 Copy number Normal - 20703242 NOT_FOUND chr2 126142262 126191901 Copy number Alcoholism Illumina Human Hap668W-Quad BeadChip 21790672 NOT_FOUND chr2 126142262 126191901 Copy number Normal - 21790672 NOT_FOUND chr2 126144337 126168781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 126147030 126183567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 126155256 126174576 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 126155894 126177987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 126156971 126176141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 126157576 126171085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 126157701 126170200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 126158526 126179367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 126158549 126168548 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr2 126158682 126169851 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 126159644 126168438 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 126159718 126168301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 126159725 126168377 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 126159725 126168377 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 126160630 126207714 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr21 26172288 26172388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26173965 26174696 Gain Alzheimer's disease - 20877625 NOT_FOUND chr21 26174731 26465003 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 LOC339622 chr21 26174731 26465003 Duplication Alzheimer's disease array-comparative genome hybridization 22044463 LOC339622 chr21 26174731 26465003 Duplication Alzheimer's disease Reference 17953491 LOC339622 chr21 26174733 26464809 Gain and loss Pancreatic cancer SNP array 17952125 LOC339622 chr21 26174733 26465003 Amplification T-cell lymphomas Array-CGH 22341440 LOC339622 chr21 26174733 26465003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC339622 chr21 26174733 26465003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339622 chr21 26179419 26309441 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LOC339622 chr21 26189245 26189345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26194774 26194874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26196591 26196901 Loss Normal - 20877625 NOT_FOUND chr21 26196623 26196820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 126207640 126207740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126226182 126227068 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 26237234 26237334 Gain and loss Pancreatic cancer SNP array 17952125 LOC339622 chr21 26237234 26237334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339622 chr2 126290018 126290118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26294821 26294921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339622 chr21 26304627 26304702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339622 chr2 126329697 126452715 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr21 26354067 26354221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339622 chr21 26354223 26354443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339622 chr21 26354269 26354369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339622 chr21 26361340 26361404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339622 chr21 26364081 26364181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339622 chr2 126364549 126370548 Loss Normal TaqMan assays 20972442 NOT_FOUND chr2 126370727 126370857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126436575 126469339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 26441500 26798300 Loss Prostate cancer Array CGH 18632612 LINC00158 chr21 26444551 26444638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126457099 126482198 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 126459577 126482198 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 126463881 127116905 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 126469157 126482198 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 26484897 26485003 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 26484897 26485003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 126493391 126493490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26497196 26497430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26497427 26497598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26511454 26514068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 26512361 26512753 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 126525301 127790300 Copy number Normal ReadDepth: A Parallel R Package 21305028 GYPC chr21 26563534 29995306 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS1,ADAMTS5,APP,ATP5J,CYYR1,GABPA,JAM2,LINC00113,LINC00158,LINC00161,LINC00314,LINC00515,MIR155,MIR155HG,MIR4759,MIR5009,MRPL39 chr21 26610076 26610161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126614832 126615077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 126627014 126627114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126663544 126663618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126668396 126668546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26688740 26688840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26700133 26863442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00158 chr2 126718673 126718705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126749247 126877324 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 26755106 26789678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00158 chr21 26760400 26867452 Amplification T-cell lymphomas Array-CGH 22341440 LINC00158 chr21 26760402 26867452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00158 chr21 26760402 26867452 Gain and loss Pancreatic cancer SNP array 17952125 LINC00158 chr21 26760402 26867452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00158 chr2 126783189 126804937 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 126784734 126803943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 26800000 31500000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ADAMTS1,ADAMTS5,APP,ATP5J,BACH1,C21orf7,CCT8,CYYR1,GABPA,GRIK1,GRIK1-AS1,GRIK1-AS2,JAM2,LINC00113,LINC00158,LINC00161,LINC00189,LINC00314,LINC00515,LTN1,MIR155,MIR155HG,MIR4759,MIR5009,MRPL39,N6AMT1,RWDD2B,USP16 chr21 26800000 48129895 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,CYYR1,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00515,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR155,MIR155HG,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 26829189 26829437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 126869974 126870074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 26952955 27525409 LOH Normal High-resolution SNP genotyping 21211785 APP,ATP5J,GABPA,JAM2,LINC00515,MRPL39 chr21 26974672 26974745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPL39 chr21 27011674 27011711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 JAM2 chr2 127031237 127032070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127031477 127032212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 27113168 27143846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GABPA chr2 12711597 12712065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 27117162 27123716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GABPA chr2 127129001 127359500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 127129914 127170475 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127130149 127170715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127130149 127170715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 27130479 27139386 Amplification T-cell lymphomas Array-CGH 22341440 GABPA chr21 27130479 27139599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GABPA chr21 27130479 27139599 Gain and loss Pancreatic cancer SNP array 17952125 GABPA chr21 27130479 27139599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GABPA chr2 127176645 127176748 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127176885 127176988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 27209349 28911573 Loss Wilms tumour 250K Genotyping Arrays 21544195 ADAMTS1,ADAMTS5,APP,CYYR1,MIR4759,MIR5009 chr21 27212112 27260703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APP chr21 27212112 27260703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APP chr21 27215657 27260703 Amplification T-cell lymphomas Array-CGH 22341440 APP chr21 27215657 27260703 Gain and loss Pancreatic cancer SNP array 17952125 APP chr2 127216308 127228875 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 127218664 127218754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127237748 127237890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 27238153 27749561 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APP chr21 27252861 27543446 Copy number Alzheimer's disease ABI 7300 Sequence 22258516 APP chr21 27256702 27656486 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 APP chr21 27272270 27306191 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APP chr2 12729660 12729733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 27302101 27462314 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APP chr21 27332750 27332839 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 APP chr2 127353539 127353923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 127359501 127366500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 127366501 127519000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GYPC chr2 127366738 127380958 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 27369632 27369732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APP chr21 27372832 27381706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APP chr21 27374500 27374692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APP chr2 127379967 128015997 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BIN1,CYP27C1,ERCC3,GYPC chr2 127385762 127425551 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GYPC chr2 127389301 127395500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 127391227 127393742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 127395147 127427223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GYPC chr21 27398533 27399309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APP chr2 127413683 127454245 Deletion Prostate cancer aCGH 22341455 GYPC chr2 127437110 127442290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GYPC chr21 27437534 27438142 Gain and loss Pancreatic cancer SNP array 17952125 APP chr21 27437534 27438142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APP chr2 127445650 127445714 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GYPC chr2 127445713 127445777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GYPC chr2 127446853 127464384 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 GYPC chr2 127447823 127447872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GYPC chr2 127491232 127491289 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 27512630 27512716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APP chr2 127519001 127581000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 127520088 127520186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127521837 127581094 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127522073 127581334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127522073 127581334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127531868 127565498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 127547173 127722744 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 27603592 28683217 LOH Normal High-resolution SNP genotyping 21211785 ADAMTS1,ADAMTS5,CYYR1,MIR4759,MIR5009 chr2 127632078 127632178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127635429 127635483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 27641906 27641989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127657646 127693887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127657888 127694124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127657888 127694124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 27661204 27662137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 27661216 27661616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127678059 127678159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 27714570 27715213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 27714570 27715243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127731096 127767982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127731335 127768222 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 127731335 127768222 Gain or loss Cancer - 20668451 NOT_FOUND chr2 127731335 127768222 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 127731335 127768222 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 127731335 127768222 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 127731335 127768222 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 127731336 127768222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127731336 127768222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 12773136 12776822 Copy number Autism exome sequencing 22495311 NOT_FOUND chr2 12774448 12800309 Deletion Normal Affymetrix 6.0 array 21223598 NOT_FOUND chr2 12774466 12800311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 12774466 12800311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 12774466 12800311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127765365 127765613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127765605 127765853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127772776 127862511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BIN1 chr2 127772776 127862511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIN1 chr2 127778608 127817275 Gain or loss Breast cancer - 20668451 BIN1 chr2 127778608 127817275 Gain or loss Cancer - 20668451 BIN1 chr2 127778608 127817275 Gain or loss Lung cancer - 20668451 BIN1 chr2 127778608 127817275 Gain or loss Ovarian cancer - 20668451 BIN1 chr2 127778608 127817275 Gain or loss Pancreas cancer - 20668451 BIN1 chr2 127778608 127817275 Gain or loss Prostate cancer - 20668451 BIN1 chr2 127781225 127817028 Gain and loss Pancreatic cancer SNP array 17952125 BIN1 chr21 27786327 27786451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127790679 127790785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127790680 127790781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127790919 127791025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127795893 127795993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127804670 127804728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127805598 127864903 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 BIN1 chr2 127805606 127864863 Deletion Prostate cancer aCGH 22341455 BIN1 chr2 12781151 12781251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127816632 127816690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BIN1 chr21 27816716 27816809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127820125 127830515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BIN1 chr2 127860973 127861020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BIN1 chr21 27874596 27874638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYYR1 chr2 12788765 13513272 LOH Normal High-resolution SNP genotyping 21211785 LOC100506474,MIR3125,TRIB2 chr2 127890001 127903000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 127890015 127890096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127892246 127903048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 127892487 127903286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127892487 127903286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 127901429 127901523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 127903001 127914000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 127903137 127903237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 27905201 27918400 Deletion Glioma mate-paired sequence 20126413 CYYR1 chr2 127932994 127934500 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 127940162 127942294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYP27C1 chr2 127946040 127946201 Gain and loss Pancreatic cancer SNP array 17952125 CYP27C1 chr2 127946280 127946391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP27C1 chr2 127954620 128000274 Gain and loss Pancreatic cancer SNP array 17952125 CYP27C1 chr2 127954860 128000932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP27C1 chr2 127954860 128000932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP27C1 chr21 27968014 27988596 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 127997382 128004047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 127997384 128024060 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ERCC3 chr2 12800000 17000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 DDX1,FAM49A,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,TRIB2 chr2 12800000 17000000 Deletions,duplications Cancer FISH and aCGH 21258086 DDX1,FAM49A,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,TRIB2 chr2 12800000 17000000 Deletions,duplications Neuroblastoma FISH and aCGH 21258086 DDX1,FAM49A,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,TRIB2 chr2 12800000 17000000 Duplication Autism high-density microarrays 22241247 DDX1,FAM49A,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,TRIB2 chr2 12800000 17000000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 DDX1,FAM49A,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,TRIB2 chr2 12800000 17000000 Gain Lung cancer Array CGH 17925434 DDX1,FAM49A,FAM84A,LOC100506474,MIR3125,MYCN,MYCNOS,NBAS,TRIB2 chr2 12800000 19100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 DDX1,FAM49A,FAM84A,GEN1,KCNS3,LOC100506474,MIR3125,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,RAD51AP2,RDH14,SMC6,TRIB2,VSNL1 chr2 12800000 23900000 Amplification Medulloblastoma array-CGH and/or FISH 22160402 APOB,C2orf43,DDX1,FAM49A,FAM84A,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC100506474,LOC645949,MATN3,MIR3125,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SMC6,TRIB2,TTC32,VSNL1,WDR35 chr2 12800000 23900000 Copy number Neuroblastoma array CGH and FISH 21258086 APOB,C2orf43,DDX1,FAM49A,FAM84A,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC100506474,LOC645949,MATN3,MIR3125,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SMC6,TRIB2,TTC32,VSNL1,WDR35 chr2 12800000 23900000 Increases Medulloblastoma interphase fluorescence in situ hybridization(I-FISH) 20607354 APOB,C2orf43,DDX1,FAM49A,FAM84A,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC100506474,LOC645949,MATN3,MIR3125,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SMC6,TRIB2,TTC32,VSNL1,WDR35 chr2 128009848 128111773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERCC3,MAP3K2 chr2 128009848 128111773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERCC3,MAP3K2 chr2 128014865 128051751 Deletion Prostate cancer aCGH 22341455 ERCC3 chr2 128024149 128072361 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ERCC3,MAP3K2 chr2 128037946 128081151 Gain and loss Pancreatic cancer SNP array 17952125 ERCC3,MAP3K2 chr2 128038001 128096000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ERCC3,MAP3K2 chr2 128059429 128059529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K2 chr2 128062138 128100769 Deletion Prostate cancer aCGH 22341455 MAP3K2 chr2 128063662 128063752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K2 chr2 12807613 12832129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 28087049 28087149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 128093803 128108435 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K2 chr2 128093957 128375947 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 IWS1,MAP3K2,MIR4783,MYO7B,PROC chr2 128096001 128116500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAP3K2 chr2 128108141 128144990 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr2 128112233 128155267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 128112401 128112501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 128112471 128155830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 128112471 128155830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 128116501 128139000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 28116850 28281810 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADAMTS1 chr21 28116862 28289966 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ADAMTS1 chr2 128119967 128128784 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 128120039 128129024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 128120039 128129024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 28134000 28200314 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr2 128145501 128155500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 28170000 28230000 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 ADAMTS1 chr2 128174827 128177635 Gain and loss Pancreatic cancer SNP array 17952125 PROC chr2 128175067 128177855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PROC chr2 128175067 128177855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PROC chr2 128175995 128186821 Deletion Prostate cancer aCGH 22341455 MIR4783,PROC chr2 128178280 128285215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IWS1,MIR4783,PROC chr2 128178280 128285215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IWS1,MIR4783,PROC chr2 128179734 128284951 Gain and loss Pancreatic cancer SNP array 17952125 IWS1,MIR4783,PROC chr21 28184271 28184371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 28217329 28247706 Duplication Non-syndromic sensorineural hearing loss References 19212409 ADAMTS1 chr21 28221157 28221354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 28221343 28221543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 28225903 28482103 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS5,MIR4759 chr2 128238382 128284086 Deletion Prostate cancer aCGH 22341455 IWS1 chr2 128272709 128272802 Gain and loss Pancreatic cancer SNP array 17952125 IWS1 chr2 128272710 128272802 Gain and loss Pancreatic cancer SNP array 17952125 IWS1 chr2 128272947 128273042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IWS1 chr21 28286114 28311000 Duplication Non-syndromic sensorineural hearing loss References 19212409 ADAMTS5 chr2 128290273 129170097 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AMMECR1L,GPR17,HS6ST1,LIMS2,MYO7B,POLR2D,SAP130,SFT2D3,UGGT1,WDR33 chr2 128293377 128395302 Deletion Prostate cancer aCGH 22341455 MYO7B chr2 128303553 128303656 Gain and loss Pancreatic cancer SNP array 17952125 MYO7B chr2 128303554 128303656 Gain and loss Pancreatic cancer SNP array 17952125 MYO7B chr2 128303791 128303896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO7B chr21 28307572 28317143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS5 chr21 28307572 28317143 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS5 chr21 28307572 28317143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS5 chr2 128319040 128319135 Gain and loss Pancreatic cancer SNP array 17952125 MYO7B chr2 128319040 128319183 Gain and loss Pancreatic cancer SNP array 17952125 MYO7B chr2 128319280 128319385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO7B chr2 128320470 128331934 Gain and loss Pancreatic cancer SNP array 17952125 MYO7B chr2 128320710 128332174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO7B chr2 128320710 128332174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO7B chr2 128335439 128358664 Gain and loss Pancreatic cancer SNP array 17952125 MYO7B chr2 128335674 128359966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO7B chr2 128335674 128359966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO7B chr21 28340549 28340649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 28359616 28359716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 128395995 128439359 Deletion Prostate cancer aCGH 22341455 GPR17,LIMS2 chr2 128403438 128410212 Deletion Prostate cancer aCGH 22341455 GPR17,LIMS2 chr2 128415027 128501863 Gain and loss Pancreatic cancer SNP array 17952125 LIMS2,SFT2D3,WDR33 chr2 128415262 128502164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIMS2,SFT2D3,WDR33 chr2 128415262 128502164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMS2,SFT2D3,WDR33 chr2 128431805 128431874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIMS2 chr2 128453543 128453632 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 128458596 128461406 Deletion Prostate cancer aCGH 22341455 SFT2D3 chr2 128461807 128568760 Deletion Prostate cancer aCGH 22341455 WDR33 chr21 28480498 29023872 LOH Normal High-resolution SNP genotyping 21211785 MIR5009 chr2 128538342 128543406 Gain Normal Birdsuite, version 1.5.2 22087296 WDR33 chr2 128541604 128541703 Gain and loss Pancreatic cancer SNP array 17952125 WDR33 chr2 128541605 128541701 Gain and loss Pancreatic cancer SNP array 17952125 WDR33 chr2 128541844 128541945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR33 chr21 28548019 30031570 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00161,LINC00314,MIR5009 chr21 28548019 30041358 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00161,LINC00314,MIR5009 chr21 28563594 28563694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 128565162 128665204 Gain and loss Pancreatic cancer SNP array 17952125 AMMECR1L,POLR2D,WDR33 chr2 128565255 128665444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMMECR1L,POLR2D,WDR33 chr2 128565255 128665444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMMECR1L,POLR2D,WDR33 chr2 128575435 128619617 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AMMECR1L,POLR2D chr2 128587730 128588039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 128587743 128588052 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr21 28595781 28595881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 28601558 32378161 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BACH1,C21orf7,CCT8,CLDN17,CLDN8,GRIK1,GRIK1-AS1,GRIK1-AS2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00113,LINC00161,LINC00189,LINC00307,LINC00314,LTN1,MIR4327,MIR5009,N6AMT1,RWDD2B,USP16 chr2 128603839 128615728 Deletion Prostate cancer aCGH 22341455 POLR2D chr2 128612829 128612829 Copy number Prostate cancer Illumina GA II sequencer 21307934 POLR2D chr2 128619203 128642433 Deletion Prostate cancer aCGH 22341455 AMMECR1L chr21 28625110 29298495 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,MIR5009 chr2 128629021 128629716 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AMMECR1L chr21 28634906 28635994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 128638732 128638901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMMECR1L chr2 128638892 128639092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMMECR1L chr2 128638893 128638993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AMMECR1L chr2 128650018 128650118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 128682001 128683500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 128683259 128683359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 128683501 128734500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SAP130 chr2 128698790 128784868 Deletion Prostate cancer aCGH 22341455 SAP130 chr21 28700000 29600000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 LINC00113,LINC00314,MIR5009 chr2 128709387 128709457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SAP130 chr21 28725823 29836938 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00314,MIR5009 chr21 28725823 29881811 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00314,MIR5009 chr2 128727409 128745577 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SAP130 chr2 128734501 128802000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SAP130 chr2 128739525 128792641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAP130 chr2 128741966 128792361 Gain and loss Pancreatic cancer SNP array 17952125 SAP130 chr2 128745303 128898612 Deletion Breast cancer Illumina 1M duo array 20393555 SAP130,UGGT1 chr21 28754394 28788415 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR5009 chr21 28796105 29768437 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00314,MIR5009 chr2 128802001 129106000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HS6ST1,UGGT1 chr21 28802339 34984201 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CCT8,CLDN17,CLDN8,CRYZL1,DNAJC28,DONSON,FAM176C,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00113,LINC00159,LINC00161,LINC00189,LINC00307,LINC00314,LOC100288432,LTN1,MIR4327,MIR5009,MIS18A,MRAP,N6AMT1,OLIG1,OLIG2,RWDD2B,SCAF4,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,URB1,USP16 chr2 128814416 128814555 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr2 128824636 128824714 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 128824876 128824954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 128832119 128857417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UGGT1 chr21 28833511 28834547 Gain and loss Pancreatic cancer SNP array 17952125 MIR5009 chr21 28835702 28835791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5009 chr21 28840934 28862498 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR5009 chr21 28843690 28843753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5009 chr21 28847521 28847621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5009 chr21 28886872 28886972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5009 chr21 28903663 29733687 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00314,MIR5009 chr2 12891787 12891887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 128918883 128918996 Gain and loss Pancreatic cancer SNP array 17952125 UGGT1 chr2 128918885 128919002 Gain and loss Pancreatic cancer SNP array 17952125 UGGT1 chr21 28919273 28919359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5009 chr21 28922915 30119239 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00161,LINC00314,MIR5009 chr21 28927712 30050011 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00161,LINC00314,MIR5009 chr21 28929903 29793111 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00314,MIR5009 chr2 128931315 128968785 Copy number Normal Quantitative Real-Time PCR 17666543 UGGT1 chr21 28937278 28937377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5009 chr21 28958038 28958133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5009 chr2 129031364 129537783 LOH Normal High-resolution SNP genotyping 21211785 HS6ST1 chr21 29043693 30132097 LOH Normal High-resolution SNP genotyping 21211785 LINC00113,LINC00161,LINC00314,MIR5009 chr2 129050237 129050306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HS6ST1 chr21 29062638 31311185 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 BACH1,C21orf7,CCT8,GRIK1,GRIK1-AS1,GRIK1-AS2,LINC00113,LINC00161,LINC00189,LINC00314,LTN1,MIR5009,N6AMT1,RWDD2B,USP16 chr21 29074509 29074642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR5009 chr2 129080412 129080606 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 129104351 129149134 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 129106001 130181500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 129120721 129120804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29127759 29973090 LOH Normal High-resolution SNP genotyping 21211785 LINC00161,LINC00314,MIR5009 chr21 29166384 29179564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5009 chr21 29166384 29179564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5009 chr21 29170347 29179564 Amplification T-cell lymphomas Array-CGH 22341440 MIR5009 chr21 29170351 29179566 Gain and loss Pancreatic cancer SNP array 17952125 MIR5009 chr21 29178796 30108026 LOH Normal High-resolution SNP genotyping 21211785 LINC00161,LINC00314,MIR5009 chr21 29181473 29183465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5009 chr21 29185405 29185953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR5009 chr21 29195972 29197944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5009 chr21 29195972 29197944 Gain and loss Pancreatic cancer SNP array 17952125 MIR5009 chr21 29195972 29197944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5009 chr2 129204635 129204707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129209929 130400002 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 129210189 129210289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29222336 29287095 Gain or loss Breast cancer - 20668451 MIR5009 chr21 29222336 29287095 Gain or loss Cancer - 20668451 MIR5009 chr21 29222336 29287095 Gain or loss Lung cancer - 20668451 MIR5009 chr21 29222336 29287095 Gain or loss Ovarian cancer - 20668451 MIR5009 chr21 29222336 29287095 Gain or loss Pancreas cancer - 20668451 MIR5009 chr21 29222336 29287095 Gain or loss Prostate cancer - 20668451 MIR5009 chr21 29222337 29287095 Amplification T-cell lymphomas Array-CGH 22341440 MIR5009 chr21 29222337 29287135 Gain and loss Pancreatic cancer SNP array 17952125 MIR5009 chr21 29222337 29287141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5009 chr21 29222337 29287141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5009 chr2 129242706 129242812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 129268576 129268676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129270983 129296472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 29291805 29292225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 129299441 129344247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 29299951 29313563 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 29299953 29313563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29299953 29313563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 29299953 29313563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29318808 159402140 Gain or loss Breast cancer - 20668451 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 29318808 159402140 Gain or loss Cancer - 20668451 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 29318808 159402140 Gain or loss Lung cancer - 20668451 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 29318808 159402140 Gain or loss Ovarian cancer - 20668451 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 29318808 159402140 Gain or loss Pancreas cancer - 20668451 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 29318808 159402140 Gain or loss Prostate cancer - 20668451 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00314,LINC00319,LINC00323,LINC00479,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,LTN1,MCM3AP,MCM3AP-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,N6AMT1,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 29318809 29348676 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 29318809 29348680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29318809 29348680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29318883 29348682 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 129336107 129336207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129346650 129365505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 29349997 29367923 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 29350516 29367989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29350516 29367989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29350518 29367881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 129351347 129365604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 129354549 129362917 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 129354890 129362673 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 129354948 129356767 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 129354948 129356767 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 129354960 129363051 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 129354993 129362886 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 129354993 129362886 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 129355237 129357660 Loss Normal 244K array 17666407 NOT_FOUND chr2 129356702 129356773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 29357557 29357557 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr21 29362314 29407057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00314 chr21 29371825 29470081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00314 chr21 29371825 29470081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00314 chr21 29378851 29414146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00314 chr21 29380053 29470080 Gain and loss Pancreatic cancer SNP array 17952125 LINC00314 chr2 129401774 130997186 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 CCDC74B,CCDC74B-AS1,LOC100131320,LOC389033,LOC440905,MZT2B,POTEF,RAB6C,SMPD4,TUBA3E chr2 129405354 129405453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29433475 29433576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29433477 29433576 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 129446050 135593357 Loss Prostate cancer Array CGH 18632612 ANKRD30BL,ARHGEF4,C2orf27A,C2orf27B,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,GPR39,IMP4,LOC100131320,LOC100216479,LOC150776,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,LYPD1,MGAT5,MIR3679,MIR4784,MIR663B,MZT2A,MZT2B,NCKAP5,PLEKHB2,POTEE,POTEF,PTPN18,RAB6C,RNU6-81,SMPD4,TISP43,TMEM163,TUBA3D,TUBA3E,WTH3DI chr2 129452550 129452640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 12947146 12947246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29474096 29474449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 29474617 29474831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 29474618 29474831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 129477923 129491191 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 29487672 29582397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29487672 29582397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29488348 29488767 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 129501009 129503659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 12950128 12950228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29516513 29517449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29521901 29525900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr21 29523688 29524027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 29540272 29584664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 129542336 129542436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29549371 29549471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29561497 29561597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29565635 29565719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129576452 129576536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129581854 129866275 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 NOT_FOUND chr2 129581854 129866275 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 129581854 129866275 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 29593091 29640340 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 29593091 29640340 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 29593091 29656088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29593091 29656088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 129600000 132200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGEF4,CCDC115,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,IMP4,LOC100131320,LOC100216479,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,MZT2B,PLEKHB2,POTEE,POTEF,PTPN18,RAB6C,SMPD4,TISP43,TUBA3E,WTH3DI chr2 129600000 132200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGEF4,CCDC115,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,IMP4,LOC100131320,LOC100216479,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,MZT2B,PLEKHB2,POTEE,POTEF,PTPN18,RAB6C,SMPD4,TISP43,TUBA3E,WTH3DI chr21 29613113 29613213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129640543 129668293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 29668026 30336188 LOH Normal High-resolution SNP genotyping 21211785 LINC00161,LTN1,N6AMT1 chr21 29683580 29683681 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 29683580 29683681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 129696105 130221068 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 129707261 129752054 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 129715397 129715475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129716224 129747891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 129716224 129747891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 129716352 130250751 Deletion Autism Illumina HumanHap551 BeadChip 20858243 NOT_FOUND chr21 29729793 29729881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129753569 129753877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 29766274 29766374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29768437 30305736 LOH Normal High-resolution SNP genotyping 21211785 LINC00161,LTN1,N6AMT1 chr21 29770309 29770408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1298001 1301900 Deletion Glioma mate-paired sequence 20126413 SNTG2 chr2 129821834 129821934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29831125 30234211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00161 chr21 29831125 30234211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00161 chr21 29831127 30234101 Amplification T-cell lymphomas Array-CGH 22341440 LINC00161 chr21 29831402 30233689 Gain and loss Pancreatic cancer SNP array 17952125 LINC00161 chr2 129860724 129860824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129865092 129865192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129885036 129891443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 29890235 29924938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00161 chr21 29890543 29890665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 29899826 29899901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129900000 132500000 Loss Gastric cancer Array CGH 16891809 ARHGEF4,C2orf27A,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,IMP4,LOC100131320,LOC100216479,LOC150776,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,MIR4784,MZT2A,MZT2B,PLEKHB2,POTEE,POTEF,PTPN18,RAB6C,RNU6-81,SMPD4,TISP43,TUBA3D,TUBA3E,WTH3DI chr2 129901225 129901326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 129901465 129901566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 29908100 29918233 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00161 chr21 29908669 29909564 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 129940000 130470000 Loss Breast cancer aCGH 21509527 NOT_FOUND chr2 129953288 129953388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129955111 129969476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 129958715 129967878 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 129958916 129967401 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 129958970 129963303 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 129958973 129963303 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 129963306 129963406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 129967418 129967518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 29969522 30454974 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C21orf7,CCT8,LTN1,N6AMT1,RWDD2B,USP16 chr21 29985916 29985971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 130000441 130000541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30006231 30006317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30011713 30011813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30012281 30012381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30043128 30058182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30043128 30058182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30043128 30058182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130049502 130094509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 30060043 30060322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130063068 130583205 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 130069992 131402172 Copy number Normal Quantitative Real-Time PCR 17666543 CCDC115,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,IMP4,LOC100131320,LOC100216479,LOC389033,LOC440905,LOC646743,MZT2B,POTEF,PTPN18,RAB6C,SMPD4,TISP43,TUBA3E chr2 130072314 130072680 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 30099382 30694271 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BACH1,C21orf7,CCT8,LINC00189,LTN1,N6AMT1,RWDD2B,USP16 chr21 30129589 30142324 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 30132097 30718083 LOH Normal High-resolution SNP genotyping 21211785 BACH1,C21orf7,CCT8,LINC00189,LTN1,N6AMT1,RWDD2B,USP16 chr21 30133915 30178667 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 130137459 130137559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 13014082 13043692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 30142181 36165999 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ATP5O,BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CCT8,CLDN17,CLDN8,CLIC6,CRYZL1,DNAJC28,DONSON,FAM165B,FAM176C,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,KCNE1,KCNE2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00160,LINC00189,LINC00307,LINC00310,LINC00649,LOC100288432,LOC100506385,LTN1,MIR4327,MIS18A,MRAP,MRPS6,N6AMT1,OLIG1,OLIG2,RCAN1,RUNX1,RWDD2B,SCAF4,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,URB1,USP16 chr2 130154346 130161850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 30161688 30161788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 130165728 130165782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30172492 30178918 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 130181501 130270000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 30183311 31099715 LOH Normal High-resolution SNP genotyping 21211785 BACH1,C21orf7,CCT8,GRIK1,GRIK1-AS2,LINC00189,LTN1,N6AMT1,RWDD2B,USP16 chr2 130264365 130291350 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 130265846 130270020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 130270001 130272500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130270626 130275256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 130272501 130382500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130277552 130280826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130291879 130583205 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 130291879 130712230 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC389033 chr2 130291879 130745921 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100131320,LOC389033,RAB6C chr2 130291879 131391022 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC115,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,IMP4,LOC100131320,LOC100216479,LOC389033,LOC440905,LOC646743,MZT2B,POTEF,PTPN18,RAB6C,SMPD4,TISP43,TUBA3E chr2 130291879 132450035 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,IMP4,LOC100131320,LOC100216479,LOC150776,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,MIR4784,MZT2A,MZT2B,PLEKHB2,POTEE,POTEF,PTPN18,RAB6C,RNU6-81,SMPD4,TISP43,TUBA3D,TUBA3E,WTH3DI chr2 130291879 133031735 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ANKRD30BL,ARHGEF4,C2orf27A,C2orf27B,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,IMP4,LOC100131320,LOC100216479,LOC150776,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,MIR4784,MIR663B,MZT2A,MZT2B,PLEKHB2,POTEE,POTEF,PTPN18,RAB6C,RNU6-81,SMPD4,TISP43,TUBA3D,TUBA3E,WTH3DI chr2 130309478 130309578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30310790 31105519 LOH Normal High-resolution SNP genotyping 21211785 BACH1,C21orf7,CCT8,GRIK1,GRIK1-AS2,LINC00189,LTN1,RWDD2B,USP16 chr2 130311762 130311845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 130316058 130316158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 130354307 132322996 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-338K arrays 21546498 ARHGEF4,CCDC115,CCDC74A,CCDC74B,CCDC74B-AS1,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,IMP4,LOC100131320,LOC100216479,LOC150776,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,MIR4784,MZT2A,MZT2B,PLEKHB2,POTEE,POTEF,PTPN18,RAB6C,RNU6-81,SMPD4,TISP43,TUBA3D,TUBA3E,WTH3DI chr2 130382501 130389500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130389501 130511000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130396906 130399804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30405617 31106481 LOH Normal High-resolution SNP genotyping 21211785 BACH1,C21orf7,CCT8,GRIK1,GRIK1-AS2,LINC00189,USP16 chr21 30412951 31084350 LOH Normal High-resolution SNP genotyping 21211785 BACH1,C21orf7,CCT8,GRIK1,GRIK1-AS2,LINC00189,USP16 chr2 130417788 130583205 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 130453465 130456541 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130453705 130456781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130453707 130456781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130453707 130456781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30454974 40506686 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP5O,BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,CRYZL1,DNAJC28,DONSON,DOPEY2,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00114,LINC00159,LINC00160,LINC00189,LINC00307,LINC00310,LINC00649,LOC100133286,LOC100288432,LOC100506385,MIR4327,MIR802,MIS18A,MORC3,MRAP,MRPS6,OLIG1,OLIG2,PIGP,RCAN1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SIM2,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,TTC3,URB1 chr21 30459753 30460945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C21orf7 chr21 30459753 30460945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C21orf7 chr21 30460132 30460806 Amplification T-cell lymphomas Array-CGH 22341440 C21orf7 chr21 30460132 30460806 Gain and loss Pancreatic cancer SNP array 17952125 C21orf7 chr2 130466692 130467843 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130466923 130468083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30500000 34700000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CLDN17,CLDN8,FAM176C,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HUNK,IFNAR1,IFNAR2,IL10RB,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00189,LINC00307,LOC100288432,MIR4327,MIS18A,MRAP,OLIG1,OLIG2,SCAF4,SNORA80,SOD1,SYNJ1,TCP10L,TIAM1,URB1 chr21 30500000 34700000 Copy number Normal - 20680643 BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CLDN17,CLDN8,FAM176C,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HUNK,IFNAR1,IFNAR2,IL10RB,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00189,LINC00307,LOC100288432,MIR4327,MIS18A,MRAP,OLIG1,OLIG2,SCAF4,SNORA80,SOD1,SYNJ1,TCP10L,TIAM1,URB1 chr21 30500000 34700000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CLDN17,CLDN8,FAM176C,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HUNK,IFNAR1,IFNAR2,IL10RB,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00189,LINC00307,LOC100288432,MIR4327,MIS18A,MRAP,OLIG1,OLIG2,SCAF4,SNORA80,SOD1,SYNJ1,TCP10L,TIAM1,URB1 chr21 30500000 34700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CLDN17,CLDN8,FAM176C,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HUNK,IFNAR1,IFNAR2,IL10RB,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00189,LINC00307,LOC100288432,MIR4327,MIS18A,MRAP,OLIG1,OLIG2,SCAF4,SNORA80,SOD1,SYNJ1,TCP10L,TIAM1,URB1 chr21 30500000 34700000 Triplication Down syndrome Array CGH 22511594 BACH1,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,CLDN17,CLDN8,FAM176C,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HUNK,IFNAR1,IFNAR2,IL10RB,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00189,LINC00307,LOC100288432,MIR4327,MIS18A,MRAP,OLIG1,OLIG2,SCAF4,SNORA80,SOD1,SYNJ1,TCP10L,TIAM1,URB1 chr21 30500000 46944323 Copy number Acute lymphoblastic leukemia array CGH 17690704 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 30500000 46944323 Gain or loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 30500000 46944323 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 30500000 46944323 Microdeletion Mental retardation Affymetrix 250K SNP arrays 21031080 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 30500000 46944323 Microdeletion Myelodysplastic syndrome References 21606161 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 30500000 46944323 Microdeletion periventricular nodular heterotopia Affymetrix 250K SNP arrays 21031080 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 30500000 46944323 Microdeletion Polymicrogyria Affymetrix 250K SNP arrays 21031080 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BACH1,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00189,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 130500648 130524934 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130500888 130525174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130500888 130525174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130507359 130722277 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC389033 chr2 130507359 130722277 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC389033 chr21 30508195 30510262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C21orf7 chr21 30508195 30510262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C21orf7 chr21 30508196 30510223 Amplification T-cell lymphomas Array-CGH 22341440 C21orf7 chr21 30508196 30510223 Gain and loss Pancreatic cancer SNP array 17952125 C21orf7 chr2 130510315 130542137 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 130510353 130533809 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 130510353 130539705 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 130511001 130523750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130512123 130745921 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100131320,LOC389033,RAB6C chr2 130523751 130528250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130528251 130534000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130533809 130539705 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 130534001 130541500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130539693 130623804 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 130539705 130542812 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 130541501 130601500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130547578 130603265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130549139 130594370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30557569 30558070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30557607 30558070 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30559481 30559581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30561000 30566511 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 LINC00189 chr21 30571360 31137840 LOH Normal High-resolution SNP genotyping 21211785 BACH1,GRIK1,GRIK1-AS1,GRIK1-AS2,LINC00189 chr21 30575117 31120843 LOH Normal High-resolution SNP genotyping 21211785 BACH1,GRIK1,GRIK1-AS1,GRIK1-AS2,LINC00189 chr21 30575498 30577147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr21 30575498 30577147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr21 30576357 30577109 Gain and loss Pancreatic cancer SNP array 17952125 LINC00189 chr2 130580429 130874329 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LOC100131320,LOC389033,LOC440905,POTEF,RAB6C chr2 130583008 130583113 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130583248 130583353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30600103 31173003 LOH Normal High-resolution SNP genotyping 21211785 BACH1,GRIK1,GRIK1-AS1,GRIK1-AS2,LINC00189 chr21 30600705 30640173 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 LINC00189 chr21 30600705 30640173 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 LINC00189 chr2 130601501 130603500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130609501 130619500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 30612679 31141140 LOH Normal High-resolution SNP genotyping 21211785 BACH1,GRIK1,GRIK1-AS1,GRIK1-AS2,LINC00189 chr21 30612679 31395625 LOH Normal High-resolution SNP genotyping 21211785 BACH1,GRIK1,GRIK1-AS1,GRIK1-AS2,LINC00189 chr2 130613092 130618861 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30613313 30614505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr21 30613313 30614505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr21 30613323 30614478 Amplification T-cell lymphomas Array-CGH 22341440 LINC00189 chr2 130613330 130619126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130613330 130619126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30613592 30614224 Gain and loss Pancreatic cancer SNP array 17952125 LINC00189 chr21 30614159 31168739 LOH Normal High-resolution SNP genotyping 21211785 BACH1,GRIK1,GRIK1-AS1,GRIK1-AS2,LINC00189 chr2 130619501 130625500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130620844 130620944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30622804 30623804 Gain Osteosarcoma References 21215367 LINC00189 chr2 130625212 130656553 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130625449 130656164 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 130625450 130656793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130625450 130656793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130625501 130637500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 30631202 30631883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr21 30631202 30631883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr21 30634524 30635524 Gain Osteosarcoma References 21215367 LINC00189 chr2 130637501 130655000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 30642598 30642795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr21 30642598 30642795 Gain and loss Pancreatic cancer SNP array 17952125 LINC00189 chr21 30642598 30642795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr21 30650704 30651074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00189 chr2 130655001 130660000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130655933 130664529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130656173 130664769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130656173 130664769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130660001 130671500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130660292 130752470 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100131320,LOC389033,RAB6C chr2 130660292 130874329 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100131320,LOC389033,LOC440905,POTEF,RAB6C chr21 30662331 30662431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 130665550 130672264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30665580 30666402 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 30665580 30666446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30665580 30666446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130665790 130672510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130665790 130672510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30665875 30666402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30670998 31347066 LOH Normal High-resolution SNP genotyping 21211785 BACH1,GRIK1,GRIK1-AS1,GRIK1-AS2 chr21 30670998 31356367 LOH Normal High-resolution SNP genotyping 21211785 BACH1,GRIK1,GRIK1-AS1,GRIK1-AS2 chr2 130671400 130673873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 130671405 130673878 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr2 130671501 130674000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130674001 130704000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC389033 chr2 130676210 130678172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30681610 30681704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BACH1 chr2 130682838 130684330 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC389033 chr21 30690166 30691007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BACH1 chr21 30690166 30691007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACH1 chr21 30690213 30690794 Amplification T-cell lymphomas Array-CGH 22341440 BACH1 chr21 30690213 30690794 Gain and loss Pancreatic cancer SNP array 17952125 BACH1 chr2 130703182 130705416 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130703422 130705656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30703691 30716618 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 BACH1 chr2 130704001 130705500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130705501 130737500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131320,RAB6C chr21 30719454 30720157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BACH1 chr21 30719454 30720157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACH1 chr21 30719583 30720101 Gain and loss Pancreatic cancer SNP array 17952125 BACH1 chr21 30720089 30720169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BACH1 chr21 30724443 30725087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BACH1 chr21 30724443 30725087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACH1 chr21 30724465 30724947 Gain and loss Pancreatic cancer SNP array 17952125 BACH1 chr21 30730655 30731153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACH1 chr21 30734495 30735058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30734495 30735058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30734517 30734969 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 30734517 30734969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130737501 130743500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100131320,RAB6C chr2 130746075 130746143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130746141 130746212 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130746214 130746281 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130746315 130746383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130746454 130746521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130747313 130747380 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130747389 130747457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130747459 130747531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130747553 130747620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130747564 130747629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130747629 130747693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130747629 130747697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130747699 130747771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130747804 130747869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130749256 130749325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130749327 130749394 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130749496 130749565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130749567 130749634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130750082 130750151 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130750322 130750391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130751771 130751838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130752011 130752078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130752181 130752246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130752421 130752486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130752470 130801172 Gain Normal Birdsuite, version 1.5.2 22087296 LOC440905 chr2 130753907 130753967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130753969 130754026 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130754027 130754097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130754147 130754207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130754209 130754266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130754267 130754337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130756410 130756478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130756650 130756718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130757751 130761500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 13076360 13076577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 13076497 13076583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 13076575 13076778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30773889 30774534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30773889 30774534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30774235 30774507 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 30774235 30774507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130775001 130777000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130777001 130901000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC74B,CCDC74B-AS1,LOC440905,POTEF chr21 30781247 30781626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30781247 30781626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30781380 30781538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30785653 30786174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30785653 30786174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30785899 30786146 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 30785901 30786146 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30791013 30791322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30791013 30791322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30791045 30791299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30795846 30796306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30795846 30796306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30796061 30796279 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130801172 130874329 Gain Normal Birdsuite, version 1.5.2 22087296 LOC440905,POTEF chr21 30804496 30804686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30808802 30808988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130812046 130816152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130812286 130816392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130812286 130816392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130816213 130820427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130816920 130820667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130816920 130820667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30820735 30820890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130829848 130848373 Gain and loss Pancreatic cancer SNP array 17952125 POTEF chr2 130830088 130849446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POTEF chr2 130830088 130849446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEF chr21 30831468 30831571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30835725 30836052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30835725 30836052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30835847 30836023 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30855065 30855504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30855065 30855504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30855288 30855479 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30855877 32565727 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLDN17,CLDN8,GRIK1,GRIK1-AS1,GRIK1-AS2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00307,MIR4327,TIAM1 chr21 30856598 30856598 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 1308752 1308792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr21 30884295 30884587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30884295 30884587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30886630 30887265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30886630 30887265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30886657 30886947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30890999 30891092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30892780 30893092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30892780 30893092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30892876 30893064 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30895285 30895483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30895285 30895483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 30895311 30895457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 30895331 31579222 LOH Normal High-resolution SNP genotyping 21211785 CLDN17,GRIK1,GRIK1-AS1,GRIK1-AS2 chr2 130901001 130930000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC74B,SMPD4 chr2 13090311 13090411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 30907621 30911767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 30907621 30911767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 30907875 30908094 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20809526 NOT_FOUND chr21 30907879 30908094 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130909457 130915278 Gain and loss Pancreatic cancer SNP array 17952125 SMPD4 chr2 130909705 130915458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMPD4 chr21 30910621 30910874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 30910621 30910874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 30910644 30910815 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20824720 GRIK1 chr21 30910645 30910815 Gain and loss Pancreatic cancer SNP array 17952125 GRIK1 chr21 30914817 30915040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 30914817 30915040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr2 130926567 130927206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMPD4 chr21 30929426 30929809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 30929426 30929809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 30929453 30929651 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20838434 GRIK1 chr21 30929454 30929651 Gain and loss Pancreatic cancer SNP array 17952125 GRIK1 chr2 130930001 130982000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MZT2B,SMPD4,TUBA3E chr2 130933498 130983709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MZT2B,SMPD4,TUBA3E chr2 130935780 131391022 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC115,CFC1,CFC1B,IMP4,LOC100216479,LOC646743,MZT2B,PTPN18,SMPD4,TISP43,TUBA3E chr21 30937053 30937326 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20838434 GRIK1 chr21 30937054 30937326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr2 130937429 130937737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMPD4 chr2 130937711 130983090 Gain and loss Pancreatic cancer SNP array 17952125 MZT2B,SMPD4,TUBA3E chr2 130971547 130971652 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130971787 130971892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 130982001 131060250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 130995066 131001813 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 130995137 131002035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 31008125 31141251 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 GRIK1,GRIK1-AS1 chr2 131010373 131022798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131013138 131023926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131013138 131023926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 31014008 31163085 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 GRIK1,GRIK1-AS1 chr2 131030431 131038196 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 1310338 1310377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 131034684 131193982 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 CCDC115,IMP4,LOC100216479,PTPN18 chr21 31035969 31036784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31040983 31041422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31040983 31041422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31041140 31041391 Gain and loss Pancreatic cancer SNP array 17952125 GRIK1 chr2 131044872 131056411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131045552 131057974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 31046473 31046568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK1 chr21 31049019 31049617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31049019 31049617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31049328 31049567 Gain and loss Pancreatic cancer SNP array 17952125 GRIK1 chr21 31056871 31057071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr2 131066531 131073278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131066823 131073721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131066823 131073721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131085524 131132134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC115,IMP4,PTPN18 chr2 131085524 131132134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC115,IMP4,PTPN18 chr21 31096431 31096616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31101121 31101308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31106886 31107441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31106886 31107441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31107218 31107409 Gain and loss Pancreatic cancer SNP array 17952125 GRIK1 chr21 31113253 31113353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK1 chr21 31123624 31123888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1,GRIK1-AS1 chr21 31123624 31123888 Gain and loss Pancreatic cancer SNP array 17952125 GRIK1,GRIK1-AS1 chr21 31123624 31123888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1,GRIK1-AS1 chr21 31126425 31126525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK1,GRIK1-AS1 chr2 131130769 131132169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN18 chr2 131130769 131132169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN18 chr2 131138501 131145250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 131145251 131165250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 131154093 131159903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 31159718 31159818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK1 chr2 131165251 131168500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 31174834 31175745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31174834 31175745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIK1 chr21 31175223 31175714 Gain and loss Pancreatic cancer SNP array 17952125 GRIK1 chr2 13117593 13200291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC100506474 chr2 13119667 13165898 Duplication Autism quantitative PCR 19404257 LOC100506474 chr2 131200501 131204000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 131203193 131204379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131203193 131204379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131204001 131234000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 13120814 13198541 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC100506474 chr2 13120814 13198541 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC100506474 chr2 131228954 131229013 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 31229501 31231000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRIK1 chr2 131229547 131242177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131229547 131242177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131234001 131243000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 31235951 31236051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK1 chr2 131243001 131271500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 131249586 131250986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131271377 131277187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131271501 131273500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 131273501 131293000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CFC1B chr21 31279338 31279427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIK1 chr2 131281701 131560000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CFC1,CFC1B,CYP4F30P,FAM123C,GPR148,LOC646743,TISP43 chr2 131293001 131328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC646743,TISP43 chr2 131296209 131296460 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC646743,TISP43 chr21 31298244 31318359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRIK1 chr2 131311498 131521306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CFC1,CFC1B,CYP4F30P,FAM123C,GPR148,LOC646743,TISP43 chr2 131311498 131521306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFC1,CFC1B,CYP4F30P,FAM123C,GPR148,LOC646743,TISP43 chr2 131320442 131321628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 31326674 31346570 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 131328001 131505500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CFC1,CFC1B,CYP4F30P,GPR148,LOC646743,TISP43 chr2 131330988 131338490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC646743,TISP43 chr2 131331321 131337936 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC646743,TISP43 chr21 31332349 31332666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 31336274 31337088 Loss Normal 244K array 17666407 NOT_FOUND chr21 31337700 31424326 Gain Cancer - 20877625 NOT_FOUND chr21 31337700 31424326 Gain Normal 244K array 17666407 NOT_FOUND chr2 131346852 131356398 Gain and loss Pancreatic cancer SNP array 17952125 CFC1,CFC1B chr21 31352497 31450699 Gain aortic dissecting aneurysms Array-CGH 22263138 NOT_FOUND chr21 31354052 31356307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 31354790 31357358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131357910 131360298 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 131390693 131521306 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 CYP4F30P,FAM123C,GPR148 chr2 131403805 131403927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 31412606 31854161 Gain or loss Breast cancer - 20668451 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31412606 31854161 Gain or loss Cancer - 20668451 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31412606 31854161 Gain or loss Lung cancer - 20668451 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31412606 31854161 Gain or loss Ovarian cancer - 20668451 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31412606 31854161 Gain or loss Pancreas cancer - 20668451 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31412606 31854161 Gain or loss Prostate cancer - 20668451 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31412607 31853161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31412607 31853161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31414352 31853161 Amplification T-cell lymphomas Array-CGH 22341440 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31414352 31853161 Gain and loss Pancreatic cancer SNP array 17952125 CLDN17,CLDN8,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,LINC00307,MIR4327 chr21 31418400 31418500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131432412 131462139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP4F30P chr2 131432440 131478523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP4F30P chr2 131433268 131455588 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP4F30P chr2 131435390 132450035 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,CCDC74A,CYP4F30P,FAM123C,FAM168B,GPR148,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 131439785 131953801 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,CYP4F30P,FAM123C,FAM168B,GPR148,PLEKHB2 chr2 131443748 131472552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 31447216 31459340 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 31447671 31459340 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 31448396 31459340 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 31500000 35800000 Copy number Neuroticism SNP array 17667963 ATP5O,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,CLDN17,CLDN8,CRYZL1,DNAJC28,DONSON,FAM165B,FAM176C,GART,GCFC1,GCFC1-AS1,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,KCNE2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00307,LINC00310,LINC00649,LOC100288432,MIR4327,MIS18A,MRAP,MRPS6,OLIG1,OLIG2,SCAF4,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,URB1 chr21 31500000 35800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ATP5O,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,CLDN17,CLDN8,CRYZL1,DNAJC28,DONSON,FAM165B,FAM176C,GART,GCFC1,GCFC1-AS1,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,KCNE2,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00307,LINC00310,LINC00649,LOC100288432,MIR4327,MIS18A,MRAP,MRPS6,OLIG1,OLIG2,SCAF4,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,URB1 chr21 31500000 40100000 Loss Acute myeloid leukemia BAC Array CGH 17237825 ATP5O,C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,CRYZL1,DNAJC28,DONSON,DOPEY2,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,FAM165B,FAM176C,GART,GCFC1,GCFC1-AS1,HLCS,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LINC00159,LINC00160,LINC00307,LINC00310,LINC00649,LOC100133286,LOC100288432,LOC100506385,MIR4327,MIR802,MIS18A,MORC3,MRAP,MRPS6,OLIG1,OLIG2,PIGP,RCAN1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SIM2,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,TTC3,URB1 chr21 31500000 48129895 Loss Autism References 18414403 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GART,GCFC1,GCFC1-AS1,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 31500000 48129895 Loss Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf56,C21orf58,C21orf59,C21orf62,C21orf67,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CRYZL1,CSTB,DIP2A,DIP2A-IT1,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,FTCD,GART,GCFC1,GCFC1-AS1,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00162,LINC00163,LINC00307,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100129027,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,S100B,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr2 131505501 131520500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM123C chr2 131507956 131638568 Gain and loss Pancreatic cancer SNP array 17952125 FAM123C chr2 131521067 131521189 Gain and loss Pancreatic cancer SNP array 17952125 FAM123C chr2 131521919 131567474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM123C chr2 131521919 131567474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM123C chr21 31526155 31526255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131532266 131597537 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 131539349 131597537 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 131560810 131561126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 131571560 131571612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131578890 131827752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF4,FAM168B chr2 131578890 131827752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF4,FAM168B chr21 31589220 44596436 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCG1,ATP5O,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf49,C21orf54,C21orf59,C21orf62,C21orf88,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLIC6,CRYAA,CRYZL1,DNAJC28,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM3B,GART,GCFC1,GCFC1-AS1,HLCS,HMGN1,HUNK,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00310,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,MIR3197,MIR4327,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PIGP,PKNOX1,PLAC4,PRDM15,PSMG1,RCAN1,RIPK4,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TTC3,U2AF1,UBASH3A,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 31590038 31592237 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 131610183 131611242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 131615215 131953801 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,FAM168B,PLEKHB2 chr2 131615215 131953801 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,FAM168B,PLEKHB2 chr2 131615215 132189809 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,FAM168B,LOC389043,LOC440910,PLEKHB2,POTEE,WTH3DI chr2 131615215 132290341 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,CCDC74A,FAM168B,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 131615215 132450035 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,CCDC74A,FAM168B,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 131615215 132548178 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,C2orf27A,CCDC74A,FAM168B,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 131626501 131631500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 31631731 31631964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131631987 131632087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 31631997 31632125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131639511 131684724 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF4 chr2 131657807 131657902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131674223 131804836 Copy number Insulin resistance Affymetrix Genome-Wide Human SNP 6.0 Array 21901158 ARHGEF4 chr2 131675001 131677500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF4 chr2 131677501 131745500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF4 chr21 31684006 31684106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131692394 131739435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF4 chr2 131692394 131739435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF4 chr2 131696152 131944831 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF4,FAM168B,PLEKHB2 chr21 31697594 32246049 LOH Normal High-resolution SNP genotyping 21211785 KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,MIR4327 chr2 131703650 131703756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF4 chr2 131745501 131762000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF4 chr21 31746650 31747407 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 31746650 31747407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131748228 131748309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF4 chr21 31753291 31754291 Gain Chordoma References 21215367 NOT_FOUND chr21 31757824 31757913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131760861 131766589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF4 chr2 131780178 132290341 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,CCDC74A,FAM168B,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 131780178 132450035 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARHGEF4,CCDC74A,FAM168B,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,RNU6-81,TUBA3D,WTH3DI chr21 31798140 31798240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KRTAP13-3 chr2 131801208 131801279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF4 chr2 131803730 131813077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF4,FAM168B chr2 131809502 131812910 Gain or loss Normal Birdsuite, version 1.5.2 22087296 FAM168B chr2 131811217 131990547 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FAM168B,PLEKHB2,POTEE chr2 131820912 131821017 Gain and loss Pancreatic cancer SNP array 17952125 FAM168B chr2 131828197 131828297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM168B chr2 131836999 131837763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168B chr21 31838495 31838602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 131843759 131843827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168B chr2 131846140 131846207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168B chr2 131846208 131846265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168B chr2 131846267 131846333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM168B chr2 131853719 131853784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131854127 131854194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131855788 131855855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131856541 131856608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131856610 131856679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131858122 131858186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131858284 131858356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131858358 131858426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131858435 131858502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131859534 131859601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131859603 131859674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131860501 131870000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHB2 chr21 31868065 31870635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KRTAP19-4 chr2 131870001 131964000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHB2 chr21 31874024 31911235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRTAP19-5 chr21 31875159 31875248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 31886178 31912131 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 31890468 31890548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 131897837 131898910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHB2 chr2 1 31900000 Copy number Cancer ICA method 16751803 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00487,LINC00570,LOC100505624,LOC100505716,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MAPRE3,MATN3,MBOAT2,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,PXDN,RAB10,RAD51AP2,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPDYA,SRD5A2,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 1 31900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00487,LINC00570,LOC100505624,LOC100505716,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MAPRE3,MATN3,MBOAT2,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,PXDN,RAB10,RAD51AP2,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPDYA,SRD5A2,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 131916684 131918908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131917039 132450035 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 131917039 132830766 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf27A,C2orf27B,CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,RNU6-81,TUBA3D,WTH3DI chr21 31921311 31922784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131922795 132723015 Substitutions and indels small cell lung cancer array-CGH 20016488 C2orf27A,C2orf27B,CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 131933966 132309530 Duplication Schizophrenia NimbleGen HD2 platform 21346763 CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 131935060 131935638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131935060 131935638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131938233 131941074 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 131938478 131942838 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 131950136 131956977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131950136 131956977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 31953806 31963115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP22-2 chr21 31953806 31963115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP22-2 chr21 31953890 31963107 Amplification T-cell lymphomas Array-CGH 22341440 KRTAP22-2 chr21 31953954 31963112 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP22-2 chr2 131954261 131955025 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131958003 131966775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131958003 131966775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 131961021 131961089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131963402 131963469 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131963470 131963527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131963529 131963595 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131964001 131967500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 31965217 32026259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP22-1,KRTAP6-1,KRTAP6-2,KRTAP6-3 chr21 31965217 32026259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP22-1,KRTAP6-1,KRTAP6-2,KRTAP6-3 chr21 31965223 32026259 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP22-1,KRTAP6-1,KRTAP6-2,KRTAP6-3 chr2 131967133 131995615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEE chr2 131967501 131983000 Copy number Normal ReadDepth: A Parallel R Package 21305028 POTEE chr2 131970981 131971046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131971389 131971456 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131973050 131973117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131973803 131973870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131973872 131973941 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131975384 131975448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131975448 131975513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131975546 131975618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131975620 131975688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131975697 131975764 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 131976796 131976863 Gain and loss Pancreatic cancer SNP array 17952125 POTEE chr2 131976865 131976936 Gain and loss Pancreatic cancer SNP array 17952125 POTEE chr2 131976934 131977002 Gain and loss Pancreatic cancer SNP array 17952125 POTEE chr21 31978580 31979388 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 131983001 131994000 Copy number Normal ReadDepth: A Parallel R Package 21305028 POTEE chr2 131994001 132001500 Copy number Normal ReadDepth: A Parallel R Package 21305028 POTEE chr21 32000739 32001048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132001501 132011500 Copy number Normal ReadDepth: A Parallel R Package 21305028 POTEE chr2 132001923 132007709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POTEE chr2 132001923 132007709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEE chr2 132013599 132290341 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 132013599 132450035 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 132015117 132016148 Gain and loss Pancreatic cancer SNP array 17952125 POTEE chr2 132017501 132019500 Copy number Normal ReadDepth: A Parallel R Package 21305028 POTEE chr2 132021403 132301583 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,RNU6-81,TUBA3D,WTH3DI chr2 132033946 132036170 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 13204621 13204721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132051696 132051801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC440910 chr2 132052268 132052922 Gain and loss Pancreatic cancer SNP array 17952125 LOC440910 chr2 132061448 132063405 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132063001 132066000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132065738 132101558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132065738 132101558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132067398 132074237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 32073767 32594115 Loss Developmental delay affymetrix genechip 500K/SNP 6.80 array 21147756 KRTAP11-1,KRTAP19-8,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP7-1,KRTAP8-1,TIAM1 chr21 32074432 32108026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRTAP21-3 chr2 132075266 132083834 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr2 132075266 132083834 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132076833 132076938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132081769 132207560 Q21.2 Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC389043,LOC401010,RNU6-81,WTH3DI chr2 132095305 132129628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WTH3DI chr2 1 32100000 Amplification Neuroblastoma References 16790693 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00487,LINC00570,LOC100505624,LOC100505716,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,PXDN,RAB10,RAD51AP2,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPDYA,SRD5A2,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 1 32100000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00487,LINC00570,LOC100505624,LOC100505716,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,PXDN,RAB10,RAD51AP2,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPDYA,SRD5A2,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 132108001 132111000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132108033 132112877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132112313 132290341 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,RNU6-81,TUBA3D,WTH3DI chr2 132112313 132450035 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,RNU6-81,TUBA3D,WTH3DI chr2 132112313 132450035 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,RNU6-81,TUBA3D,WTH3DI chr2 132112313 132539962 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf27A,CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,RNU6-81,TUBA3D,WTH3DI chr2 132112313 132548178 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf27A,CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,RNU6-81,TUBA3D,WTH3DI chr2 132119214 132124703 Gain and loss Pancreatic cancer SNP array 17952125 WTH3DI chr21 32124929 32124999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 132131001 132133500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 32134524 32135041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132145501 132148000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132146769 132170552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC389043 chr2 132148001 132236250 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC389043,LOC401010,RNU6-81,TUBA3D chr21 32151463 32438711 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KRTAP11-1,KRTAP19-8,KRTAP7-1,KRTAP8-1 chr21 32163214 32163314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 32167499 32298248 Amplification T-cell lymphomas Array-CGH 22341440 KRTAP11-1,KRTAP7-1,KRTAP8-1 chr21 32167499 32298248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP11-1,KRTAP7-1,KRTAP8-1 chr21 32167499 32298248 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP11-1,KRTAP7-1,KRTAP8-1 chr21 32167499 32298248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP11-1,KRTAP7-1,KRTAP8-1 chr2 132176434 132679716 Copy number Lung cancer paired-end sequencing 18438408 C2orf27A,C2orf27B,CCDC74A,LOC150776,LOC401010,MIR4784,MZT2A,RNU6-81,TUBA3D chr2 132183000 132217437 Gain and loss Pancreatic cancer SNP array 17952125 LOC401010,RNU6-81 chr2 132194095 132194200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132196418 132241449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC401010,RNU6-81,TUBA3D chr2 132196418 132241449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC401010,RNU6-81,TUBA3D chr2 132196464 132225665 Loss Autism 1M Ailent CGH whole-genome array 21865298 LOC401010,RNU6-81 chr2 132197291 132198322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132200000 134800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD30BL,C2orf27A,C2orf27B,CCDC74A,GPR39,LOC150776,LOC401010,LYPD1,MIR4784,MIR663B,MZT2A,NCKAP5,RNU6-81,TUBA3D chr2 132200000 134800000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ANKRD30BL,C2orf27A,C2orf27B,CCDC74A,GPR39,LOC150776,LOC401010,LYPD1,MIR4784,MIR663B,MZT2A,NCKAP5,RNU6-81,TUBA3D chr21 32213129 32213352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 132213535 132313876 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CCDC74A,LOC150776,MIR4784,MZT2A,RNU6-81,TUBA3D chr21 32234651 32234730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 132236251 132241000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNU6-81,TUBA3D chr21 32236454 32268082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRTAP11-1 chr2 132236797 132237093 Loss Normal 244K array 17666407 RNU6-81,TUBA3D chr2 132241001 132274250 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC150776,MIR4784,MZT2A,RNU6-81 chr2 132250935 132251396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC150776,RNU6-81 chr2 132269003 132275704 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 LOC150776,RNU6-81 chr2 132269004 132275704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC150776,RNU6-81 chr2 132269004 132275704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC150776,RNU6-81 chr2 132274251 132277000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC150776,RNU6-81 chr2 132277001 132295500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC74A,LOC150776,RNU6-81 chr2 132280000 135380000 Loss Breast cancer aCGH 21509527 ANKRD30BL,C2orf27A,C2orf27B,CCDC74A,GPR39,LYPD1,MGAT5,MIR3679,MIR663B,NCKAP5,RNU6-81,TMEM163 chr2 132295501 132297500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNU6-81 chr2 132301501 132310500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNU6-81 chr2 132313796 132358711 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-81 chr2 132314556 132315464 Gain and loss Pancreatic cancer SNP array 17952125 RNU6-81 chr2 13234898 13608832 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 132364625 132548178 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf27A chr2 132364625 132830766 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf27A,C2orf27B chr2 13237768 13237868 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132386266 132392966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 32386462 32386602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132411171 132428795 Gain Normal 244K array 17666407 NOT_FOUND chr2 132418849 132421441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 32428565 32473700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 32449223 32449314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 132496101 132723800 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf27A,C2orf27B chr2 132496324 133299754 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ANKRD30BL,C2orf27A,C2orf27B,GPR39,MIR663B chr2 132496440 132724653 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C2orf27A,C2orf27B chr2 132500000 135100000 Copy number Neuroticism SNP array 17667963 ANKRD30BL,C2orf27A,C2orf27B,GPR39,LYPD1,MGAT5,MIR3679,MIR663B,NCKAP5 chr2 132500000 135100000 Duplication Mental retardation array CGH 17124404 ANKRD30BL,C2orf27A,C2orf27B,GPR39,LYPD1,MGAT5,MIR3679,MIR663B,NCKAP5 chr2 132500000 135100000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 ANKRD30BL,C2orf27A,C2orf27B,GPR39,LYPD1,MGAT5,MIR3679,MIR663B,NCKAP5 chr2 132511786 132830766 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf27A,C2orf27B chr2 132511786 133031735 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD30BL,C2orf27A,C2orf27B,MIR663B chr21 32562403 32573247 Amplification T-cell lymphomas Array-CGH 22341440 TIAM1 chr21 32562403 32573247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32562403 32573247 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32562403 32573247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr2 132577907 132578161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 32585995 32608966 Amplification T-cell lymphomas Array-CGH 22341440 TIAM1 chr21 32585995 32608966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32585995 32608966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32593030 32608963 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr2 132594457 132595857 Gain Normal BAC array 16365383 NOT_FOUND chr21 32605200 32687206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32605201 32687021 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr2 132607044 132882804 Loss or gain Normal 244K array 17666407 NOT_FOUND chr21 32608645 32608695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TIAM1 chr2 132621950 132635998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132621950 132635998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 32630281 32631281 Gain Chordoma References 21215367 TIAM1 chr2 132636001 132637250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 32636666 32636933 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32636666 32636933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr2 132658024 132833718 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 32671367 32671499 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32671367 32671502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32671368 32671499 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr2 132678628 132830766 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 132682501 132694500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 13268621 13934760 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr21 32687310 32688125 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr2 132690833 132735739 Gain Normal BAC array 16365383 NOT_FOUND chr2 132694501 132696500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132695169 132695423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 32695937 32730494 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TIAM1 chr2 132696501 132705500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132696919 132763519 Gain Non-syndromic sensorineural hearing loss BAC end sequencing 19587683 NOT_FOUND chr21 32698410 32698505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TIAM1 chr21 32700000 46200000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ABCG1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf119,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf59,C21orf62,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLIC6,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM3B,GART,GCFC1,GCFC1-AS1,HLCS,HMGN1,HSF2BP,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00159,LINC00160,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MIR802,MIS18A,MORC3,MRAP,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,PRDM15,PSMG1,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 32706623 32809568 Amplification T-cell lymphomas Array-CGH 22341440 TIAM1 chr21 32706623 32809568 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32706623 32809578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32706623 32809578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr2 132711001 132721500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132714853 132718095 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr21 32715734 32715834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TIAM1 chr2 132721501 132733000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132721838 132813714 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 132723801 132774400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132727197 132727348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132727944 132764103 Gain Normal aCGH 21627829 NOT_FOUND chr2 132729585 132730218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132729879 146577303 Substitutions and indels small cell lung cancer array-CGH 20016488 ACMSD,ANKRD30BL,ARHGAP15,CCNT2,CXCR4,DARS,DKFZp686O1327,GPR39,GTDC1,HNMT,KYNU,LCT,LOC100129961,LOC100507600,LOC647012,LRP1B,LYPD1,MCM6,MGAT5,MIR128-1,MIR3679,MIR663B,NCKAP5,NXPH2,R3HDM1,RAB3GAP1,SPOPL,THSD7B,TMEM163,UBXN4,YSK4,ZEB2,ZEB2-AS1,ZRANB3 chr2 132731009 132731123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132731564 132739698 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 132732826 132747839 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 132733001 132743000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132733056 132751151 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 132733351 132752848 Gain Normal aCGH 21627829 NOT_FOUND chr2 132739216 132753260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132743001 132747500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132743548 132743654 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132745400 132745809 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr2 132747501 132752500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 32749937 32750438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr2 132752501 132838000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132755117 132755208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132763505 132764092 Gain Normal BAC array 16365383 NOT_FOUND chr2 132768896 145733876 Copy number Lung cancer paired-end sequencing 18438408 ACMSD,ANKRD30BL,ARHGAP15,CCNT2,CXCR4,DARS,DKFZp686O1327,GPR39,GTDC1,HNMT,KYNU,LCT,LOC100129961,LOC100507600,LOC647012,LRP1B,LYPD1,MCM6,MGAT5,MIR128-1,MIR3679,MIR663B,NCKAP5,NXPH2,R3HDM1,RAB3GAP1,SPOPL,THSD7B,TMEM163,UBXN4,YSK4,ZEB2,ZEB2-AS1,ZRANB3 chr2 132774401 133128600 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD30BL,MIR663B chr21 32777113 32777113 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TIAM1 chr2 132786146 132976848 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD30BL chr21 32790993 32791492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr2 132807444 133249179 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD30BL,GPR39,MIR663B chr21 32817350 32862406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TIAM1 chr2 132832006 132832272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 32832200 32832266 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32832200 32832266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32832547 32832618 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32832547 32832618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr2 132835361 219988004 Copy number Lung cancer paired-end sequencing 18438408 AAMP,ABCA12,ABCB11,ABI2,ACADL,ACMSD,ACVR1,ACVR1C,ACVR2A,ADAM23,AGPS,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKRD30BL,ANKRD44,AOX1,AOX2P,ARHGAP15,ARL5A,ARL6IP6,ARPC2,ASNSD1,ATF2,ATIC,ATP5G3,B3GALT1,BARD1,BAZ2B,BBS5,BCS1L,BMPR2,BOLL,BZW1,C2orf47,C2orf62,C2orf66,C2orf69,C2orf80,C2orf88,CACNB4,CALCRL,CASP10,CASP8,CCDC108,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFLAR,CFLAR-AS1,CHN1,CHRNA1,CIR1,CLK1,COBLL1,COL3A1,COL5A2,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CYBRD1,CYP20A1,CYP27A1,CYTIP,DAPL1,DARS,DCAF17,DFNB59,DHRS9,DIRC1,DIRC3,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJC10,DPP4,DUSP19,DYNC1I2,DYTN,EEF1B2,EPC2,ERBB4,ERMN,EVX2,FAM117B,FAM126B,FAM171B,FAP,FASTKD1,FASTKD2,FEV,FIGN,FKBP7,FMNL2,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GCSHP3,GLS,GORASP2,GPBAR1,GPD2,GPR1,GPR155,GPR39,GRB14,GTDC1,GTF3C3,GULP1,HAT1,HECW2,HIBCH,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,INO80D,INPP1,ITGA4,ITGA6,ITGAV,ITGB6,KANSL1L,KBTBD10,KCNH7,KCNJ3,KCTD18,KIAA1715,KIF5C,KLF7,KLHL23,KYNU,LANCL1,LCT,LINC00607,LINC00608,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100144595,LOC100505695,LOC100506124,LOC100506134,LOC100507140,LOC100507443,LOC100507600,LOC100861402,LOC200726,LOC285084,LOC375295,LOC440925,LOC647012,LRP1B,LRP2,LY75,LY75-CD302,LYPD1,LYPD6,LYPD6B,MAP2,MARCH4,MARCH7,MARS2,MBD5,MCM6,MDH1B,METAP1D,METTL21A,METTL5,METTL8,MFSD6,MGAT5,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR2355,MIR26B,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3606,MIR3679,MIR375,MIR4437,MIR4444-1,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4785,MIR548F2,MIR548N,MIR561,MIR663B,MIR933,MLK7-AS1,MMADHC,MOB4,MPP4,MREG,MSTN,MTX2,MYL1,MYO1B,MYO3B,NAB1,NABP1,NBEAL1,NCKAP1,NCKAP5,NDUFB3,NDUFS1,NEB,NEUROD1,NFE2L2,NHEJ1,NIF3L1,NMI,NOP58,NOSTRIN,NR4A2,NRP2,NUP35,NXPH2,OLA1,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,PABPC1P2,PARD3B,PCGEM1,PDE11A,PDE1A,PDK1,PECR,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PPIG,PPIL3,PPP1R1C,PRKAG3,PRKRA,PRPF40A,PSMD14,PTH2R,R3HDM1,RAB3GAP1,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM45,RBMS1,RFTN2,RIF1,RND3,RNF25,RPE,RPL37A,RPRM,RQCD1,RUFY4,SATB2,SATB2-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SDPR,SESTD1,SF3B1,SGOL2,SLC11A1,SLC25A12,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SMARCAL1,SNORA41,SNORA70F,SNORD11,SNORD11B,SNORD51,SNORD70,SP3,SP5,SP9,SPAG16,SPATS2L,SPC25,SPOPL,SSB,SSFA2,STAM2,STAT1,STAT4,STK17B,STK36,STK39,STRADB,SUMO1,TANC1,TANK,TBR1,TFPI,THSD7B,TLK1,TMBIM1,TMEFF2,TMEM163,TMEM169,TMEM194B,TMEM237,TNFAIP6,TNP1,TNS1,TRAK2,TTC21B,TTC30A,TTC30B,TTLL4,TTN,TTN-AS1,TYW5,UBE2E3,UBR3,UBXN4,UNC80,UPP2,USP37,VIL1,VWC2L,VWC2L-IT1,WDR12,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,XIRP2,XRCC5,YSK4,ZAK,ZC3H15,ZDBF2,ZEB2,ZEB2-AS1,ZNF142,ZNF385B,ZNF804A,ZRANB3,ZSWIM2 chr2 132844456 132844610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132844459 132844610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132845025 132874478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 132845652 132847500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 132846847 132847480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 32857259 32857345 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32857259 32857345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32866420 32870062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32866420 32870062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32869642 32870022 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr2 132869981 132872968 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 32870733 32879687 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32870733 32879714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32870733 32879714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr2 132875689 132903413 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 132880795 132880901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 132890001 132892000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 132890617 133120602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30BL,MIR663B chr2 132890617 133120602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30BL,MIR663B chr21 32895848 32906767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32895848 32906767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32895855 32906789 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32895980 32906784 Amplification T-cell lymphomas Array-CGH 22341440 TIAM1 chr21 32896000 35199000 Amplification Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 C21orf119,C21orf49,C21orf54,C21orf59,C21orf62,CRYZL1,DNAJC28,DONSON,FAM176C,GART,GCFC1,GCFC1-AS1,HUNK,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,LINC00159,LOC100288432,MIS18A,MRAP,OLIG1,OLIG2,SCAF4,SNORA80,SOD1,SON,SYNJ1,TCP10L,TIAM1,TMEM50B,URB1 chr2 132908401 132909225 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30BL chr21 32912080 32913080 Gain Chordoma References 21215367 TIAM1 chr21 32915230 32916277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32918597 32919277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32922944 33022105 Gain and loss Pancreatic cancer SNP array 17952125 TIAM1 chr21 32922944 33022148 Amplification T-cell lymphomas Array-CGH 22341440 TIAM1 chr21 32922944 33022183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr21 32922944 33022183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TIAM1 chr2 132937365 132937417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD30BL chr2 132943997 132945587 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30BL chr2 132955528 132955962 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30BL chr2 132962887 132964884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD30BL chr21 32980788 32981788 Loss Chordoma References 21215367 NOT_FOUND chr2 132981494 133010592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD30BL chr2 132997660 132997979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30BL chr2 132997802 133000736 Gain Normal Birdsuite, version 1.5.2 22087296 ANKRD30BL chr2 132998028 132998135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD30BL chr2 132998060 132998163 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30BL chr2 132998061 132998163 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30BL chr2 133008348 133237859 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD30BL,GPR39,MIR663B chr21 33028084 33066040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAF4,SOD1 chr21 33028084 33066040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAF4,SOD1 chr21 33028088 33066040 Gain and loss Pancreatic cancer SNP array 17952125 SCAF4,SOD1 chr21 33029002 33065869 Amplification T-cell lymphomas Array-CGH 22341440 SCAF4,SOD1 chr21 33050676 33050776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCAF4 chr21 33050680 33050848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCAF4 chr2 133061146 133249179 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPR39 chr21 33066344 33091825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAF4 chr2 133079857 133080700 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 33085113 33085178 Gain and loss Pancreatic cancer SNP array 17952125 SCAF4 chr21 33087746 33107829 Amplification T-cell lymphomas Array-CGH 22341440 SCAF4 chr21 33087746 33107859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAF4 chr21 33087747 33107814 Gain and loss Pancreatic cancer SNP array 17952125 SCAF4 chr2 133090043 133090100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 133114922 133115189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 133114922 133115244 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 133118807 133145622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 133118807 133145622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 33125650 33131721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 133134829 133138159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 33135676 33135991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 33136041 33136175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 33136041 33136175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 133142501 133145000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 133145844 134042504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR39,LYPD1,NCKAP5 chr2 133145844 134042504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR39,LYPD1,NCKAP5 chr2 133187603 133187663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR39 chr2 133190882 133193039 Gain Normal Birdsuite, version 1.5.2 22087296 GPR39 chr2 133199356 133199456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR39 chr21 33233793 33233875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 133237276 133261514 Gain and loss Pancreatic cancer SNP array 17952125 GPR39 chr2 133263106 133373360 Gain and loss Pancreatic cancer SNP array 17952125 GPR39 chr21 33278602 33278702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HUNK chr2 133302000 133302100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR39 chr21 33314001 33330000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HUNK chr21 33318638 33321896 Amplification or deletion Cancer Array CGH 17440070 HUNK chr21 33320109 33323374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HUNK chr21 33320109 33323374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HUNK chr21 33320113 33323371 Gain and loss Pancreatic cancer SNP array 17952125 HUNK chr21 33320163 33323371 Amplification T-cell lymphomas Array-CGH 22341440 HUNK chr21 33320968 33321033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HUNK chr2 13332491 13332566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 133327499 133359004 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GPR39 chr21 33328502 33598576 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 HUNK,LINC00159 chr21 33364320 33366595 Gain and loss Pancreatic cancer SNP array 17952125 HUNK chr21 33364320 33366596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HUNK chr21 33364320 33366596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HUNK chr21 33364443 33366596 Amplification T-cell lymphomas Array-CGH 22341440 HUNK chr2 1333716 1333816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 133374885 133376135 Gain and loss Pancreatic cancer SNP array 17952125 GPR39 chr2 133388658 133391253 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GPR39 chr2 133392684 134361815 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPR39,LYPD1,NCKAP5 chr2 133392684 135594032 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPR39,LYPD1,MGAT5,MIR3679,NCKAP5,TMEM163 chr2 133397590 133397690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR39 chr21 33397779 33397879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 33398533 33398749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 33421284 33421382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 33431591 33431678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 33448220 33472804 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00159 chr21 33449188 33449284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 133459550 133504695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCKAP5 chr21 33477317 33478317 Loss Chordoma References 21215367 NOT_FOUND chr21 33500000 33900000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 C21orf119,FAM176C,MIS18A,MRAP,SNORA80,URB1 chr2 133504494 133812256 Loss Oral cancer 105K CGH oligonucleotide array 21386901 NCKAP5 chr2 1335201 1339400 Deletion Glioma mate-paired sequence 20126413 SNTG2 chr21 33524101 33558688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 33524101 33558697 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 33524101 33558700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 33524101 33558700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 133537738 134159763 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP5 chr2 13355082 13387741 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 133554684 133554778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr21 33560542 33591390 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 33560542 33591390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 33560542 33591390 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 33560542 33591390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 133571625 133571725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 133580922 133691092 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NCKAP5 chr21 33581851 34132794 Gain Bladder cancer array-CGH 21909424 C21orf119,C21orf59,FAM176C,GCFC1,GCFC1-AS1,MIS18A,MRAP,SNORA80,SYNJ1,TCP10L,URB1 chr2 133590236 133590557 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCKAP5 chr21 33610287 33610347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 33615748 33615750 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr21 33619084 33653993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIS18A chr21 33619084 33653993 Gain and loss Pancreatic cancer SNP array 17952125 MIS18A chr21 33619084 33653993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIS18A chr21 33619084 33653999 Amplification T-cell lymphomas Array-CGH 22341440 MIS18A chr2 133626944 133627044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr21 33628747 33629272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 33637724 33760314 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 MIS18A,MRAP,SNORA80,URB1 chr21 33658674 33833374 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 C21orf119,FAM176C,MRAP,SNORA80,URB1 chr21 33660332 33678408 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MRAP chr2 133676188 133676256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr21 33691013 33691113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 URB1 chr21 33697072 33731696 Amplification T-cell lymphomas Array-CGH 22341440 URB1 chr21 33697072 33731696 Gain and loss Pancreatic cancer SNP array 17952125 URB1 chr21 33697072 33731698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 URB1 chr21 33697072 33731698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 URB1 chr2 1336994 1337206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNTG2 chr2 133708309 133710357 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP5 chr21 33726663 33774120 Amplification T-cell lymphomas Array-CGH 22341440 C21orf119,SNORA80,URB1 chr2 133732133 133732233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 133734967 133872725 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NCKAP5 chr21 33743225 33773414 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C21orf119,SNORA80,URB1 chr21 33743321 33774151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C21orf119,SNORA80,URB1 chr21 33743321 33774151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C21orf119,SNORA80,URB1 chr21 33744120 33774110 Gain and loss Pancreatic cancer SNP array 17952125 C21orf119,SNORA80,URB1 chr21 33750156 33751744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 URB1 chr21 33753544 33775083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C21orf119,URB1 chr2 133757479 133757563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr21 33764407 33782482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C21orf119,URB1 chr21 33765653 33777159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C21orf119 chr21 33767385 33775472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 33767682 33779389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 33768408 33781628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 33775757 33776372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 33775757 33776372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 133778432 133778464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr21 33779707 33785650 Amplification T-cell lymphomas Array-CGH 22341440 FAM176C chr21 33779707 33785650 Gain and loss Pancreatic cancer SNP array 17952125 FAM176C chr21 33782107 33785893 Copy number Normal Illumina Human610-Quad BeadChip 21660214 FAM176C chr21 33782108 33785893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33782108 33785893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33783016 33783091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 33789729 33789829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM176C chr21 33798108 33837037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33798108 33837037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33798113 33837068 Gain and loss Pancreatic cancer SNP array 17952125 FAM176C chr21 33798144 33836286 Amplification T-cell lymphomas Array-CGH 22341440 FAM176C chr2 133807875 133807968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP5 chr2 133811701 135355000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MGAT5,MIR3679,NCKAP5,TMEM163 chr21 33812787 33813285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33833 35647 Constitutional microdeletions acute myelogenous leukemia Array-CGH 18487507 NOT_FOUND chr21 33837220 33871682 Amplification T-cell lymphomas Array-CGH 22341440 FAM176C chr21 33837220 33871682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33837220 33871682 Gain and loss Pancreatic cancer SNP array 17952125 FAM176C chr21 33837220 33871682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr2 133839916 133873711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCKAP5 chr2 133865128 133865440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP5 chr2 133865200 133865440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP5 chr21 33869653 33882884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33869653 33882884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33872082 33882884 Amplification T-cell lymphomas Array-CGH 22341440 FAM176C chr21 33872082 33936514 Gain and loss Pancreatic cancer SNP array 17952125 FAM176C chr2 133877756 134006444 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NCKAP5 chr21 33883517 33935936 Amplification T-cell lymphomas Array-CGH 22341440 FAM176C chr21 33883520 33936094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33883520 33936094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM176C chr21 33902218 34055103 Deletion Mental retardation MLPA Pos 20877625 C21orf59,SYNJ1,TCP10L chr2 13390594 13390668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 133912532 133912632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 133916278 133916506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 133916504 133916601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 133924260 133924309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 133925137 133925230 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP5 chr21 33936576 34184448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C21orf49,C21orf59,C21orf62,GCFC1,GCFC1-AS1,SYNJ1,TCP10L chr21 33936576 34184448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C21orf49,C21orf59,C21orf62,GCFC1,GCFC1-AS1,SYNJ1,TCP10L chr21 33936654 34183479 Amplification T-cell lymphomas Array-CGH 22341440 C21orf49,C21orf59,C21orf62,GCFC1,GCFC1-AS1,SYNJ1,TCP10L chr2 133982462 133982702 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP5 chr21 33992311 34275744 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C21orf49,C21orf62,GCFC1,GCFC1-AS1,SYNJ1 chr21 33992311 35047400 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C21orf49,C21orf54,C21orf62,CRYZL1,DNAJC28,DONSON,GART,GCFC1,GCFC1-AS1,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,LOC100288432,OLIG1,OLIG2,SON,SYNJ1,TMEM50B chr21 33994548 34053518 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SYNJ1 chr2 134018968 134019068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr21 34036402 46626193 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf49,C21orf54,C21orf62,C21orf67,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLIC6,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM207A,FAM3B,GART,GCFC1,GCFC1-AS1,HLCS,HMGN1,HSF2BP,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00160,LINC00162,LINC00163,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100288432,LOC100506385,LOC284837,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MIR802,MORC3,MRPS6,MX1,MX2,NDUFV3,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SON,SSR4P1,SUMO3,SYNJ1,TFF1,TFF2,TFF3,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 34058311 34574342 LOH Normal High-resolution SNP genotyping 21211785 C21orf49,C21orf54,C21orf62,GCFC1,GCFC1-AS1,OLIG1,OLIG2,SYNJ1 chr2 134070132 134070447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP5 chr21 34072734 34073051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYNJ1 chr2 134100480 134100577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCKAP5 chr21 34111194 34111284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCFC1,GCFC1-AS1 chr2 134112035 134112135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr21 34114036 34114132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCFC1,GCFC1-AS1 chr2 134139919 134142770 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCKAP5 chr2 134151678 134151778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 134176735 134177041 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCKAP5 chr2 134187394 134187632 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP5 chr2 134187394 134187733 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP5 chr21 34197628 34210028 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 34197628 34210028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 34197628 34210028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 34197628 34210028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 134202210 134246186 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCKAP5 chr21 34212885 34212967 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 34212885 34212967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 34213291 34213511 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 34213291 34213511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 34213413 34481781 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 OLIG1,OLIG2 chr2 134217677 134245826 Indels Normal Affymetrix and Illumina arrays 20811451 NCKAP5 chr2 13422309 13608832 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 13422309 13608832 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 13422309 13698420 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr21 34243100 34258130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 34243100 34258130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 134253314 134253346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 134260745 134261076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCKAP5 chr2 134279946 134607843 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NCKAP5 chr21 34292089 34292164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 134308521 134309801 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NCKAP5 chr21 34316613 36447405 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP5O,C21orf54,CLIC6,CRYZL1,DNAJC28,DONSON,FAM165B,GART,IFNAR1,IFNAR2,IFNGR2,IL10RB,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100288432,LOC100506385,MRPS6,OLIG1,OLIG2,RCAN1,RUNX1,RUNX1-IT1,SLC5A3,SON,TMEM50B chr2 134323901 134324001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP5 chr2 134333476 134333591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 34367687 34437198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLIG2 chr21 34367687 34437198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLIG2 chr21 34367693 34437200 Amplification T-cell lymphomas Array-CGH 22341440 OLIG2 chr21 34367740 34400431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLIG2 chr21 34367740 34400431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLIG2 chr21 34389368 34391524 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 34391267 34391346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 34393667 34393733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 34399499 34399592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLIG2 chr21 34415848 34461141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OLIG1 chr21 34419337 34437198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 34429602 34430241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 34439800 34439950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 134452816 134486321 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 13445749 14257280 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 13445749 14257280 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 34476869 34477063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 134483816 134484015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 134486643 136780571 LOH Normal High-resolution SNP genotyping 21211785 ACMSD,CCNT2,DARS,LCT,LOC100129961,LOC100507600,MCM6,MGAT5,MIR128-1,MIR3679,R3HDM1,RAB3GAP1,TMEM163,UBXN4,YSK4,ZRANB3 chr2 134493177 134508842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 13451679 14257280 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 13451679 14257280 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 13451679 14273502 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 13451679 14273502 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 34521720 34554366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C21orf54 chr2 134547083 134547183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 13455084 14257280 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 13455084 14257280 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 13455187 13908456 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 34563570 34574170 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 34564897 34564992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 34567355 34568720 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 134585289 134585607 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 134594223 134928662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3679 chr2 134594223 134928662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3679 chr21 34625313 34832077 In Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 IFNAR1,IFNAR2,IFNGR2,IL10RB,LOC100288432,TMEM50B chr21 34648096 34829283 Copy number Congenital long qt syndrome References 19214780 IFNAR1,IFNGR2,IL10RB,TMEM50B chr21 34648096 34829283 Gain Down syndrome - 20877625 IFNAR1,IFNGR2,IL10RB,TMEM50B chr21 34648298 34909180 Gain Autism Exome sequencing and CGH 22495309 DNAJC28,GART,IFNAR1,IFNGR2,IL10RB,TMEM50B chr21 34654556 35234384 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 CRYZL1,DNAJC28,DONSON,GART,IFNAR1,IFNGR2,IL10RB,ITSN1,SON,TMEM50B chr21 34658193 34665307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL10RB chr21 34658193 34665307 Gain and loss Pancreatic cancer SNP array 17952125 IL10RB chr21 34658193 34665307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL10RB chr21 34658193 34665310 Amplification T-cell lymphomas Array-CGH 22341440 IL10RB chr2 13466146 13510291 Loss Normal 244K array 17666407 NOT_FOUND chr21 34669619 34696945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 34669619 34696945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 134683170 134686618 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 134683171 134686600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 34694485 34695240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 34697326 34697359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFNAR1 chr21 34700000 36700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5O,CLIC6,CRYZL1,DNAJC28,DONSON,FAM165B,GART,IFNAR1,IFNGR2,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,RUNX1-IT1,SLC5A3,SON,TMEM50B chr21 34700000 36700000 Deletion with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5O,CLIC6,CRYZL1,DNAJC28,DONSON,FAM165B,GART,IFNAR1,IFNGR2,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,RUNX1-IT1,SLC5A3,SON,TMEM50B chr21 34700000 36700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5O,CLIC6,CRYZL1,DNAJC28,DONSON,FAM165B,GART,IFNAR1,IFNGR2,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,RUNX1-IT1,SLC5A3,SON,TMEM50B chr21 34700000 38600000 Deletion with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP5O,CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,CLIC6,CRYZL1,DNAJC28,DONSON,DOPEY2,DSCR3,DSCR6,DSCR9,FAM165B,GART,HLCS,IFNAR1,IFNGR2,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100133286,LOC100506385,MIR802,MORC3,MRPS6,PIGP,RCAN1,RUNX1,RUNX1-IT1,SETD4,SIM2,SLC5A3,SON,TMEM50B,TTC3 chr21 34700000 46944323 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ABCG1,ADARB1,AGPAT3,AIRE,ATP5O,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM207A,FAM3B,GART,HLCS,HMGN1,HSF2BP,ICOSLG,IFNAR1,IFNGR2,IGSF5,ITGB2,ITGB2-AS1,ITSN1,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00160,LINC00162,LINC00163,LINC00310,LINC00313,LINC00319,LINC00323,LINC00479,LINC00649,LOC100133286,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MIR802,MORC3,MRPS6,MX1,MX2,NDUFV3,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SON,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMEM50B,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 134700240 134729894 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 134702634 134804417 Gain Stenocardia MACArray Karyo 11K BAC-chips 21860640 NOT_FOUND chr2 134702634 134804417 Gain Vasospasm MACArray Karyo 11K BAC-chips 21860640 NOT_FOUND chr2 134705236 134705353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 134705237 134705325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 134708623 134708698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 134711378 136549920 LOH Normal High-resolution SNP genotyping 21211785 ACMSD,CCNT2,LCT,LOC100129961,MGAT5,MIR128-1,MIR3679,R3HDM1,RAB3GAP1,TMEM163,UBXN4,YSK4,ZRANB3 chr2 134724735 134757289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 134733900 136756040 LOH Normal High-resolution SNP genotyping 21211785 ACMSD,CCNT2,DARS,LCT,LOC100129961,LOC100507600,MCM6,MGAT5,MIR128-1,MIR3679,R3HDM1,RAB3GAP1,TMEM163,UBXN4,YSK4,ZRANB3 chr21 34740858 34806443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFNGR2,TMEM50B chr21 34740858 34806443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFNGR2,TMEM50B chr21 34743225 34806443 Gain and loss Pancreatic cancer SNP array 17952125 IFNGR2,TMEM50B chr21 34743413 34743820 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 34750278 34750405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 34768340 34953503 Deletion Down syndrome Fluorescent in situ hybridization 21154855 DNAJC28,DONSON,GART,IFNGR2,SON,TMEM50B chr2 134772195 134805609 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 134784477 134810886 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 134784477 134816827 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 134787764 134795872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 134795445 134806886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 34796 35507 Constitutional microdeletions acute myelogenous leukemia Array-CGH 18487507 NOT_FOUND chr2 134800000 136600000 Copy number Warburg Micro syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACMSD,CCNT2,LCT,LOC100129961,LOC100507600,MCM6,MGAT5,MIR128-1,MIR3679,R3HDM1,RAB3GAP1,TMEM163,UBXN4,YSK4,ZRANB3 chr2 134800000 136600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACMSD,CCNT2,LCT,LOC100129961,LOC100507600,MCM6,MGAT5,MIR128-1,MIR3679,R3HDM1,RAB3GAP1,TMEM163,UBXN4,YSK4,ZRANB3 chr2 134800001 134837106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 34810652 34909303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC28,GART,TMEM50B chr21 34810652 34909303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC28,GART,TMEM50B chr21 34810656 34909252 Amplification T-cell lymphomas Array-CGH 22341440 DNAJC28,GART,TMEM50B chr21 34810658 34909303 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC28,GART,TMEM50B chr2 134811631 134843650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 134822499 134822587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 134842900 135040200 Gain and loss Pancreatic cancer SNP array 17952125 MGAT5,MIR3679 chr2 134855991 134856081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 134875473 134875556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 134915501 134945000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 134930031 135193040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MGAT5 chr2 134930031 135193040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT5 chr2 134930031 135193040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT5 chr21 34933499 34933599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SON chr21 34937658 34968390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRYZL1,DONSON,SON chr2 134962675 134962775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 34963558 35012389 Amplification T-cell lymphomas Array-CGH 22341440 CRYZL1 chr21 34963558 35012389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRYZL1 chr21 34963558 35012389 Gain and loss Pancreatic cancer SNP array 17952125 CRYZL1 chr21 34963558 35012389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYZL1 chr21 34992601 34996900 Deletion Glioma mate-paired sequence 20126413 CRYZL1 chr2 134998369 134999056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 135000000 170000000 Deletion Mental retardation Affymetrix 250K NspI array 22214275 ABCB11,ACMSD,ACVR1,ACVR1C,ACVR2A,ARHGAP15,ARL5A,ARL6IP6,B3GALT1,BAZ2B,CACNB4,CCDC148,CCDC148-AS1,CCNT2,CD302,CERS6,COBLL1,CSRNP3,CXCR4,CYTIP,DAPL1,DARS,DHRS9,DKFZp686O1327,DPP4,EPC2,ERMN,FAP,FIGN,FMNL2,G6PC2,GALNT13,GALNT3,GALNT5,GCA,GCG,GPD2,GRB14,GTDC1,HNMT,IFIH1,ITGB6,KCNH7,KCNJ3,KIF5C,KYNU,LCT,LOC100129961,LOC100144595,LOC100506124,LOC100506134,LOC100507600,LOC100861402,LOC647012,LRP1B,LRP2,LY75,LY75-CD302,LYPD6,LYPD6B,MARCH7,MBD5,MCM6,MGAT5,MIR128-1,MIR4773-1,MIR4773-2,MIR4774,MIR4785,MMADHC,NEB,NMI,NOSTRIN,NR4A2,NXPH2,ORC4,PABPC1P2,PKP4,PLA2R1,PRPF40A,PSMD14,R3HDM1,RAB3GAP1,RBM43,RBMS1,RIF1,RND3,RPRM,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SLC4A10,SNORA70F,SPC25,SPOPL,STAM2,STK39,TANC1,TANK,TBR1,THSD7B,TMEM163,TNFAIP6,TTC21B,UBXN4,UPP2,WDSUB1,XIRP2,YSK4,ZEB2,ZEB2-AS1,ZRANB3 chr21 35002242 35003806 Loss Autism 1M Ailent CGH whole-genome array 21865298 CRYZL1 chr2 135015592 136589786 LOH Normal High-resolution SNP genotyping 21211785 ACMSD,CCNT2,LCT,LOC100129961,LOC100507600,MGAT5,MIR128-1,R3HDM1,RAB3GAP1,TMEM163,UBXN4,YSK4,ZRANB3 chr2 135030144 135030294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGAT5 chr21 35044781 35543405 Loss Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 ATP5O,ITSN1,LINC00649,MRPS6,SLC5A3 chr2 135047063 135359068 Gain and loss Pancreatic cancer SNP array 17952125 MGAT5,TMEM163 chr21 35081967 36278917 Gain or loss Breast cancer - 20668451 ATP5O,CLIC6,FAM165B,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,SLC5A3 chr21 35081967 36278917 Gain or loss Cancer - 20668451 ATP5O,CLIC6,FAM165B,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,SLC5A3 chr21 35081967 36278917 Gain or loss Lung cancer - 20668451 ATP5O,CLIC6,FAM165B,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,SLC5A3 chr21 35081967 36278917 Gain or loss Ovarian cancer - 20668451 ATP5O,CLIC6,FAM165B,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,SLC5A3 chr21 35081967 36278917 Gain or loss Pancreas cancer - 20668451 ATP5O,CLIC6,FAM165B,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,SLC5A3 chr21 35081967 36278917 Gain or loss Prostate cancer - 20668451 ATP5O,CLIC6,FAM165B,ITSN1,KCNE1,KCNE2,LINC00160,LINC00310,LINC00649,LOC100506385,MRPS6,RCAN1,RUNX1,SLC5A3 chr21 35081971 35343511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5O,ITSN1,LINC00649 chr21 35081971 35343511 Gain and loss Pancreatic cancer SNP array 17952125 ATP5O,ITSN1,LINC00649 chr21 35081971 35343511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5O,ITSN1,LINC00649 chr2 135089213 135089287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGAT5 chr21 35110000 35150000 Loss Acute lymphoblastic leukemia - 21339820 ITSN1 chr21 35119811 35142942 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ITSN1 chr21 35151507 35854142 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP5O,FAM165B,ITSN1,KCNE1,KCNE2,LINC00310,LINC00649,MRPS6,SLC5A3 chr21 35152166 35181383 Amplification or deletion Cancer Array CGH 17440070 ITSN1 chr21 35157609 35272817 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ITSN1 chr2 135169180 135169249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGAT5 chr21 35178179 35437658 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ATP5O,ITSN1,LINC00649 chr21 35183460 35183539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITSN1 chr21 35201713 35201801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITSN1 chr2 135215137 135215237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM163 chr21 35217851 35218065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITSN1 chr2 135218490 135218570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM163 chr21 35220654 35220724 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITSN1 chr21 35224539 35225775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITSN1 chr2 135261730 135261813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM163 chr2 1352623 13544016 Copy number Autism exome sequencing 22495311 ADAM17,ADI1,ALLC,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC400940,LOC727982,LOC730811,LPIN1,MBOAT2,MIR3125,MIR4261,MIR4262,MIR4429,MYT1L,NOL10,NTSR2,ODC1,PDIA6,PQLC3,PXDN,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SNORA80B,SNTG2,SOX11,TAF1B,TPO,TRAPPC12,TRIB2,TSSC1,YWHAQ chr2 135262641 135262741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM163 chr2 135267032 135267401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM163 chr21 35267456 35267525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 35277801 35277893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP5O chr2 135291610 136714751 LOH Normal High-resolution SNP genotyping 21211785 ACMSD,CCNT2,DARS,LCT,LOC100129961,LOC100507600,MCM6,MIR128-1,R3HDM1,RAB3GAP1,TMEM163,UBXN4,YSK4,ZRANB3 chr21 35304204 35704075 Loss Acute megakaryoblastic leukaemia - 20877625 LINC00310,LINC00649,MRPS6,SLC5A3 chr2 13531115 15436434 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM84A,NBAS chr2 135312587 135376074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM163 chr2 135312587 135376074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM163 chr2 135325123 135340195 Gain and loss Pancreatic cancer SNP array 17952125 TMEM163 chr21 35332762 35344227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00649 chr21 35343506 35344307 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr21 35350000 35354000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr2 1353625 1355078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNTG2 chr2 135392863 135431056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM163 chr2 135392863 135431056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM163 chr2 135399598 135400977 Gain and loss Pancreatic cancer SNP array 17952125 TMEM163 chr2 135417654 135418028 Gain and loss Pancreatic cancer SNP array 17952125 TMEM163 chr2 135418053 135422519 Gain and loss Pancreatic cancer SNP array 17952125 TMEM163 chr2 135429918 135493162 Gain and loss Pancreatic cancer SNP array 17952125 TMEM163 chr2 135438743 135498718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM163 chr2 135438743 135498718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM163 chr21 35467122 35467222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS6,SLC5A3 chr2 135469016 135469094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM163 chr2 135473832 136549920 LOH Normal High-resolution SNP genotyping 21211785 ACMSD,CCNT2,LCT,LOC100129961,MIR128-1,R3HDM1,RAB3GAP1,TMEM163,UBXN4,YSK4,ZRANB3 chr2 135478814 136008895 Indels Normal Affymetrix and Illumina arrays 20811451 ACMSD,CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135479343 137719070 LOH Normal High-resolution SNP genotyping 21211785 ACMSD,CCNT2,CXCR4,DARS,LCT,LOC100129961,LOC100507600,MCM6,MIR128-1,R3HDM1,RAB3GAP1,UBXN4,YSK4,ZRANB3 chr21 35504687 35504766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS6 chr2 135509785 135545950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 135526323 135644048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACMSD,LOC100129961 chr2 135526323 135644048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACMSD,LOC100129961 chr21 35567576 36025069 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FAM165B,KCNE1,KCNE2,RCAN1 chr21 35567720 37121518 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CLIC6,FAM165B,KCNE1,KCNE2,LINC00160,LOC100506385,MIR802,RCAN1,RUNX1,RUNX1-IT1 chr2 135572018 135614951 Gain and loss Pancreatic cancer SNP array 17952125 ACMSD chr21 35577187 36051883 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CLIC6,FAM165B,KCNE1,KCNE2,RCAN1 chr2 135582431 136001762 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ACMSD,CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr21 35597164 35602136 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 135610668 135610795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACMSD chr2 135636500 136005276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACMSD,CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135636500 136005276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACMSD,CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135643608 135760770 Gain and loss Pancreatic cancer SNP array 17952125 ACMSD,CCNT2,LOC100129961,YSK4 chr2 135674043 136005276 Gain or loss Breast cancer - 20668451 CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135674043 136005276 Gain or loss Cancer - 20668451 CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135674043 136005276 Gain or loss Lung cancer - 20668451 CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135674043 136005276 Gain or loss Ovarian cancer - 20668451 CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135674043 136005276 Gain or loss Pancreas cancer - 20668451 CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135674043 136005276 Gain or loss Prostate cancer - 20668451 CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135674043 136005276 Increased Primary Severe Spermatogenic Failure automated sequencing 20378930 CCNT2,LOC100129961,RAB3GAP1,YSK4,ZRANB3 chr2 135676109 135676192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100129961 chr2 135727930 135728058 Gain and loss Pancreatic cancer SNP array 17952125 YSK4 chr21 35741213 35742213 Gain Chordoma References 21215367 KCNE2 chr21 35742320 36447035 LOH Normal High-resolution SNP genotyping 21211785 CLIC6,FAM165B,KCNE1,KCNE2,LINC00160,LOC100506385,RCAN1,RUNX1,RUNX1-IT1 chr21 35742320 36472120 LOH Normal High-resolution SNP genotyping 21211785 CLIC6,FAM165B,KCNE1,KCNE2,LINC00160,LOC100506385,RCAN1,RUNX1,RUNX1-IT1 chr2 135753762 136121914 Gain and loss Pancreatic cancer SNP array 17952125 RAB3GAP1,YSK4,ZRANB3 chr21 35766265 35766600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 35796771 35830203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNE1 chr21 35800000 37800000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 CBR1,CBR3,CBR3-AS1,CHAF1B,CLIC6,DOPEY2,KCNE1,LINC00160,LOC100133286,LOC100506385,MIR802,MORC3,RCAN1,RUNX1,RUNX1-IT1,SETD4 chr21 35800000 48129895 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 ABCG1,ADARB1,AGPAT3,AIRE,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM207A,FAM3B,FTCD,HLCS,HMGN1,HSF2BP,ICOSLG,IGSF5,ITGB2,ITGB2-AS1,KCNE1,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00160,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC100129027,LOC100133286,LOC100506385,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MIR3197,MIR4760,MIR802,MORC3,MX1,MX2,NDUFV3,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RCAN1,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,S100B,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 35800722 35800808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 135814811 135818041 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAB3GAP1 chr2 135815887 135818136 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RAB3GAP1 chr21 35827720 35854952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNE1 chr21 35893900 35894190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RCAN1 chr2 135897597 135936550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB3GAP1 chr2 135897632 135897717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB3GAP1 chr21 35910628 35910716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCAN1 chr21 35915073 35915173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RCAN1 chr21 35924717 35924836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RCAN1 chr21 35926345 37832437 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CBR1,CBR3,CBR3-AS1,CHAF1B,CLIC6,DOPEY2,LINC00160,LOC100133286,LOC100506385,MIR802,MORC3,RCAN1,RUNX1,RUNX1-IT1,SETD4 chr21 35936834 35937038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RCAN1 chr21 35936835 35937039 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RCAN1 chr2 135939223 135939365 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 135984586 135985983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZRANB3 chr2 135990441 136024644 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZRANB3 chr21 36004123 36004223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 136005541 136199308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZRANB3 chr2 136005541 136199308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZRANB3 chr21 36014883 36014976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36018915 36019268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36025155 36025255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 36039929 36180839 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CLIC6,LINC00160,LOC100506385,RUNX1 chr21 36063945 36064009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLIC6 chr2 136119174 136119251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZRANB3 chr2 136122803 136316568 Gain and loss Pancreatic cancer SNP array 17952125 R3HDM1,ZRANB3 chr2 136130517 136130619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZRANB3 chr21 36133366 36133466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506385 chr2 136139437 136139518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZRANB3 chr21 36181363 36181975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36184964 36185025 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr21 36184964 36185025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36185029 36185094 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr21 36185029 36185094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36185199 36185268 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr21 36185199 36185268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36185275 36185340 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr21 36185275 36185340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36193573 36202268 Loss Acute lymphoblastic leukemia 33K BAC Array CGH 17315016 RUNX1 chr2 136215659 136259103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZRANB3 chr2 136215659 136259103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZRANB3 chr2 136225965 136235905 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZRANB3 chr21 36234195 46924583 Duplication Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ABCG1,ADARB1,AGPAT3,AIRE,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM207A,FAM3B,HLCS,HMGN1,HSF2BP,ICOSLG,IGSF5,ITGB2,ITGB2-AS1,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC100133286,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MIR802,MORC3,MX1,MX2,NDUFV3,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 36237341 36238341 Loss Chordoma References 21215367 RUNX1 chr2 136247779 136247913 Gain and loss Pancreatic cancer SNP array 17952125 ZRANB3 chr2 136247780 136247859 Gain and loss Pancreatic cancer SNP array 17952125 ZRANB3 chr2 136256699 136256780 Gain and loss Pancreatic cancer SNP array 17952125 ZRANB3 chr2 136261885 136311220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 R3HDM1,ZRANB3 chr2 136261885 136311220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 R3HDM1,ZRANB3 chr21 36267070 36267170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUNX1 chr21 36270569 36270663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUNX1 chr2 136270788 136272559 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZRANB3 chr2 136271954 136326216 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 R3HDM1,ZRANB3 chr2 136284209 136284319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZRANB3 chr21 36299866 36299966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUNX1 chr21 36302129 36335057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RUNX1 chr21 36307053 36307113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUNX1 chr21 36310247 36310714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36310247 36310736 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr2 136313674 136350481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 R3HDM1 chr2 136313674 136350481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 R3HDM1 chr21 36314710 36314810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUNX1 chr21 36328709 36373557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36328709 36373557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36328710 36354553 Amplification T-cell lymphomas Array-CGH 22341440 RUNX1 chr21 36328710 36354553 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr2 136332893 136333501 Gain and loss Pancreatic cancer SNP array 17952125 R3HDM1 chr2 136333130 136376357 Gain and loss Pancreatic cancer SNP array 17952125 R3HDM1 chr2 136336300 136336389 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 R3HDM1 chr21 36344186 36345962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36344385 36345227 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr21 36360713 36360814 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr21 36360713 36360816 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr21 36360713 36360820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36364155 36367332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36364155 36367332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUNX1 chr21 36364191 36367332 Amplification T-cell lymphomas Array-CGH 22341440 RUNX1 chr21 36364191 36367332 Gain and loss Pancreatic cancer SNP array 17952125 RUNX1 chr2 136371970 136372920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 R3HDM1 chr2 136379147 136428482 Gain and loss Pancreatic cancer SNP array 17952125 MIR128-1,R3HDM1 chr2 136380724 136459692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR128-1,R3HDM1 chr2 136380724 136459692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR128-1,R3HDM1 chr2 136401472 136401580 Gain and loss Pancreatic cancer SNP array 17952125 R3HDM1 chr2 136401473 136401581 Gain and loss Pancreatic cancer SNP array 17952125 R3HDM1 chr21 36406113 36406558 Loss Normal 244K array 17666407 RUNX1 chr21 36410182 36741497 Loss Normal 244K array 17666407 RUNX1,RUNX1-IT1 chr2 136414428 136428058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR128-1,R3HDM1 chr21 36424165 36426078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36424539 36426078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36426618 36427200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36426618 36427200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36429001 36431000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 36429133 36440728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36429133 36440728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36429273 36440728 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36429337 36440724 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 136430936 136467743 Gain and loss Pancreatic cancer SNP array 17952125 R3HDM1 chr21 36431001 36987000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 136439901 136439989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 R3HDM1 chr21 36458703 36588442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36458703 36588442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36458708 36588442 Copy number Normal Illumina Human610-Quad BeadChip 21660214 NOT_FOUND chr21 36458709 36588441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36458709 36588442 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 36463138 36464348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 136489257 136490031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 136491719 136704170 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-364K arrays 21546498 DARS,LCT,LOC100507600,MCM6,UBXN4 chr2 136493501 137075400 Copy number Normal ReadDepth: A Parallel R Package 21305028 CXCR4,DARS,LCT,LOC100507600,MCM6,UBXN4 chr2 136497986 136576954 Gain and loss Pancreatic cancer SNP array 17952125 LCT,UBXN4 chr21 36522670 36522770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 36539221 36539311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 36552600 36552699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36552600 36552699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 136554313 136605223 Gain Normal Birdsuite, version 1.5.2 22087296 LCT,LOC100507600,MCM6 chr21 36578843 36578943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 136588388 136592195 Gain or loss Breast cancer - 20668451 LCT chr2 136588388 136592195 Gain or loss Cancer - 20668451 LCT chr2 136588388 136592195 Gain or loss Lung cancer - 20668451 LCT chr2 136588388 136592195 Gain or loss Ovarian cancer - 20668451 LCT chr2 136588388 136592195 Gain or loss Pancreas cancer - 20668451 LCT chr2 136588388 136592195 Gain or loss Prostate cancer - 20668451 LCT chr2 136588389 136592205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCT chr2 136588389 136592205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCT chr21 36589336 36589873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36589357 36589870 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 136590501 136592000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LCT chr2 136597967 136785265 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 DARS,MCM6 chr21 36597981 36598214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 136600000 142400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CXCR4,DARS,HNMT,LOC647012,LRP1B,MCM6,NXPH2,SPOPL,THSD7B chr2 136600000 142400000 Deletion Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 CXCR4,DARS,HNMT,LOC647012,LRP1B,MCM6,NXPH2,SPOPL,THSD7B chr2 136600000 142400000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 123 samples 21899760 CXCR4,DARS,HNMT,LOC647012,LRP1B,MCM6,NXPH2,SPOPL,THSD7B chr2 136600000 142400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CXCR4,DARS,HNMT,LOC647012,LRP1B,MCM6,NXPH2,SPOPL,THSD7B chr2 136600000 142400000 Translocation Breast cancer transcriptome sequencing 19181860 CXCR4,DARS,HNMT,LOC647012,LRP1B,MCM6,NXPH2,SPOPL,THSD7B chr2 136600000 144700000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 ARHGAP15,CXCR4,DARS,HNMT,KYNU,LOC647012,LRP1B,MCM6,NXPH2,SPOPL,THSD7B chr2 136600000 209100000 Gain Glioblastoma aCGH 21080181 ABCB11,ABI2,ACVR1,ACVR1C,ACVR2A,ADAM23,AGPS,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKRD44,AOX1,AOX2P,ARHGAP15,ARL5A,ARL6IP6,ASNSD1,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,C2orf80,C2orf88,CACNB4,CALCRL,CASP10,CASP8,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCNYL1,CD28,CD302,CDCA7,CDK15,CERKL,CERS6,CFLAR,CFLAR-AS1,CHN1,CHRNA1,CIR1,CLK1,COBLL1,COL3A1,COL5A2,COQ10B,CPO,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTLA4,CWC22,CXCR4,CYBRD1,CYP20A1,CYTIP,DAPL1,DARS,DCAF17,DFNB59,DHRS9,DIRC1,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJC10,DPP4,DUSP19,DYNC1I2,DYTN,EEF1B2,EPC2,ERMN,EVX2,FAM117B,FAM126B,FAM171B,FAP,FASTKD1,FASTKD2,FIGN,FKBP7,FMNL2,FONG,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GCSHP3,GLS,GORASP2,GPD2,GPR1,GPR155,GRB14,GTDC1,GTF3C3,GULP1,HAT1,HECW2,HIBCH,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,IFIH1,INO80D,INPP1,ITGA4,ITGA6,ITGAV,ITGB6,KBTBD10,KCNH7,KCNJ3,KCTD18,KIAA1715,KIF5C,KLF7,KLHL23,KYNU,LOC100130452,LOC100130691,LOC100144595,LOC100505695,LOC100506124,LOC100506134,LOC100507140,LOC100507443,LOC100861402,LOC200726,LOC285084,LOC375295,LOC440925,LOC647012,LRP1B,LRP2,LY75,LY75-CD302,LYPD6,LYPD6B,MARCH7,MARS2,MBD5,MCM6,MDH1B,METAP1D,METTL21A,METTL5,METTL8,MFSD6,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR2355,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3606,MIR4437,MIR4444-1,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4785,MIR548N,MIR561,MIR933,MLK7-AS1,MMADHC,MOB4,MPP4,MSTN,MTX2,MYO1B,MYO3B,NAB1,NABP1,NBEAL1,NCKAP1,NDUFB3,NDUFS1,NEB,NEUROD1,NFE2L2,NIF3L1,NMI,NOP58,NOSTRIN,NR4A2,NRP2,NUP35,NXPH2,OLA1,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,PABPC1P2,PARD3B,PCGEM1,PDE11A,PDE1A,PDK1,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLCL1,PLEKHA3,PLEKHM3,PMS1,PPIG,PPIL3,PPP1R1C,PRKRA,PRPF40A,PSMD14,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM45,RBMS1,RFTN2,RIF1,RND3,RPRM,SATB2,SATB2-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SDPR,SESTD1,SF3B1,SGOL2,SLC25A12,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SNORA41,SNORA70F,SNORD11,SNORD11B,SNORD51,SNORD70,SP3,SP5,SP9,SPATS2L,SPC25,SPOPL,SSB,SSFA2,STAM2,STAT1,STAT4,STK17B,STK39,STRADB,SUMO1,TANC1,TANK,TBR1,TFPI,THSD7B,TLK1,TMEFF2,TMEM194B,TMEM237,TNFAIP6,TRAK2,TTC21B,TTC30A,TTC30B,TTN,TTN-AS1,TYW5,UBE2E3,UBR3,UPP2,WDR12,WDR75,WDSUB1,WIPF1,XIRP2,ZAK,ZC3H15,ZDBF2,ZEB2,ZEB2-AS1,ZNF385B,ZNF804A,ZSWIM2 chr2 13660503 13670293 Loss Normal 244K array 17666407 NOT_FOUND chr21 36614357 36670814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36614357 36670814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36614376 36670813 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36614376 36670814 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 136615397 137719070 LOH Normal High-resolution SNP genotyping 21211785 CXCR4,DARS,MCM6 chr2 136615528 136615560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCM6 chr2 136656812 136656912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 36656904 36657008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 36661247 36669941 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 36671330 36704463 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 36679559 36710994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36679559 36710994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36679559 36710994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36679559 36710995 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 36683046 36683280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36699495 38306798 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,DOPEY2,HLCS,LOC100133286,MIR802,MORC3,SETD4,SIM2 chr21 36700000 38600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,DOPEY2,DSCR3,DSCR6,DSCR9,HLCS,LOC100133286,MIR802,MORC3,PIGP,SETD4,SIM2,TTC3 chr21 36700000 38600000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,DOPEY2,DSCR3,DSCR6,DSCR9,HLCS,LOC100133286,MIR802,MORC3,PIGP,SETD4,SIM2,TTC3 chr21 36700000 38600000 Deletion with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,DOPEY2,DSCR3,DSCR6,DSCR9,HLCS,LOC100133286,MIR802,MORC3,PIGP,SETD4,SIM2,TTC3 chr21 36700000 38600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,DOPEY2,DSCR3,DSCR6,DSCR9,HLCS,LOC100133286,MIR802,MORC3,PIGP,SETD4,SIM2,TTC3 chr21 36700000 41400000 Duplication Down syndrome - 20877625 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,DOPEY2,DSCAM,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,HLCS,HMGN1,IGSF5,KCNJ15,KCNJ6,LCA5L,LINC00114,LOC100133286,MIR802,MORC3,PCP4,PIGP,PSMG1,SETD4,SH3BGR,SIM2,TTC3,WRB chr2 136706171 136707241 Gain and loss Pancreatic cancer SNP array 17952125 DARS chr2 1367074 1367174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNTG2 chr2 136736881 136736981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DARS chr21 36748886 36783426 Loss, gain Hearing loss - 20877625 NOT_FOUND chr21 36748886 36783426 Loss or gain Normal 244K array 17666407 NOT_FOUND chr2 13675244 13675344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 36754789 36774258 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 36754789 36870737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36754789 36870737 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36754789 36870737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 136763145 144989769 Duplication Cancer CGH 22183965 ARHGAP15,CXCR4,GTDC1,HNMT,KYNU,LOC647012,LRP1B,NXPH2,SPOPL,THSD7B chr2 136763145 144989769 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 ARHGAP15,CXCR4,GTDC1,HNMT,KYNU,LOC647012,LRP1B,NXPH2,SPOPL,THSD7B chr2 136763198 137293164 Duplication Cancer CGH 22183965 CXCR4 chr2 136763198 137293164 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 CXCR4 chr21 36780151 36781579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36780575 36781594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36785973 36801336 Loss, gain Normal - 20877625 NOT_FOUND chr21 36786307 36786628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 36790033 36823866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 136813190 137338715 LOH Normal High-resolution SNP genotyping 21211785 CXCR4 chr2 136826837 136827049 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 136845928 137342645 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CXCR4 chr2 136845928 137663637 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CXCR4 chr2 136846776 136846876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 136871895 136871995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CXCR4 chr2 136878940 136879064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 136903227 136904425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 136906522 136906608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 136944787 136944851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 136955881 136955941 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 36987001 37004500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 36993861 37044088 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 36993861 37044088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 36993861 37044088 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 36993861 37044088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 137004709 137004773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 137018411 137018520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37028079 37104999 Heterozygous deletion Pleomorphic xanthoastrocytoma SNP array 20730472 MIR802 chr21 37045060 37284373 Amplification T-cell lymphomas Array-CGH 22341440 MIR802 chr21 37045066 37284373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR802 chr21 37045066 37284373 Gain and loss Pancreatic cancer SNP array 17952125 MIR802 chr21 37045066 37284373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR802 chr2 137066351 137066412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37069002 37086441 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 37073143 37079650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 137086003 137086093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37099384 37099484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37111202 37111246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137119148 137119232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37119939 37119998 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr21 37146081 37146198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 37146081 37146198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37146081 37146199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 137160330 137160387 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 37161392 37195097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 137189154 137189254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37209275 46944323 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCG1,ADARB1,AGPAT3,AIRE,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf88,C21orf90,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CHAF1B,CLDN14,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM207A,FAM3B,HLCS,HMGN1,HSF2BP,ICOSLG,IGSF5,ITGB2,ITGB2-AS1,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC100133286,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MORC3,MX1,MX2,NDUFV3,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 37224509 39522346 Triplication Acute myeloid leukemia - 21251322 CBR1,CBR3,CBR3-AS1,CHAF1B,CLDN14,DOPEY2,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,HLCS,KCNJ6,LOC100133286,MORC3,PIGP,SETD4,SIM2,TTC3 chr21 37227892 37227992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37237953 37238156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37238012 37238112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137239585 138151757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THSD7B chr2 137239585 138151757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD7B chr21 37240571 37240671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37244841 37244941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37248957 37249057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37264924 37265024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137267222 137267311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37280909 37281021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37280911 37281021 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 37288813 37289245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37288816 37289239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 37300320 37313826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 37300733 37313826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37300733 37313826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37300733 37313829 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 37321083 37321302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137328699 138602350 Duplication Obesity Illumina SNP array 20622171 THSD7B chr2 137330387 137330487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137336296 137336359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37339700 37339806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37339701 37339803 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 37348604 37380256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 37351025 37351125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37359534 37367340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37359534 37367340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 37359545 37367264 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 37359545 37367264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 137364342 137364474 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr21 37365816 37365916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37367440 37497278 Copy number Lung cancer - 20668451 CBR1,LOC100133286,SETD4 chr21 37367440 37497278 Gain or loss Breast cancer - 20668451 CBR1,LOC100133286,SETD4 chr21 37367440 37497278 Gain or loss Cancer - 20668451 CBR1,LOC100133286,SETD4 chr21 37367440 37497278 Gain or loss Lung cancer - 20668451 CBR1,LOC100133286,SETD4 chr21 37367440 37497278 Gain or loss Ovarian cancer - 20668451 CBR1,LOC100133286,SETD4 chr21 37367440 37497278 Gain or loss Pancreas cancer - 20668451 CBR1,LOC100133286,SETD4 chr21 37367440 37497278 Gain or loss Prostate cancer - 20668451 CBR1,LOC100133286,SETD4 chr21 37367441 37497274 Gain and loss Pancreatic cancer SNP array 17952125 CBR1,LOC100133286,SETD4 chr21 37367441 37497283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBR1,LOC100133286,SETD4 chr21 37367441 37497283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBR1,LOC100133286,SETD4 chr21 37379960 37497276 Amplification T-cell lymphomas Array-CGH 22341440 CBR1,LOC100133286,SETD4 chr21 37417367 37432824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SETD4 chr21 37426286 37426375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SETD4 chr21 37438789 37438889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37450801 37931211 Deletion Down syndrome array comparative genomic hybridization 21154855 CBR3,CBR3-AS1,CHAF1B,CLDN14,DOPEY2,LOC100133286,MORC3 chr21 37464335 37509623 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CBR3,CBR3-AS1,LOC100133286 chr2 137485405 137485505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37489474 37490172 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100133286 chr2 13749098 13749198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137493262 138018654 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 THSD7B chr21 37502674 37515906 Gain and loss Pancreatic cancer SNP array 17952125 CBR3,CBR3-AS1 chr21 37509776 37510072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBR3,CBR3-AS1 chr21 37509776 37510074 Gain and loss Pancreatic cancer SNP array 17952125 CBR3,CBR3-AS1 chr21 37517596 37561703 Amplification T-cell lymphomas Array-CGH 22341440 CBR3,CBR3-AS1,DOPEY2 chr21 37517596 37562090 Gain and loss Pancreatic cancer SNP array 17952125 CBR3,CBR3-AS1,DOPEY2 chr21 37517598 37562132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBR3,CBR3-AS1,DOPEY2 chr21 37517598 37562132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBR3,CBR3-AS1,DOPEY2 chr2 137524150 137524501 Gain Normal 244K array 17666407 NOT_FOUND chr2 137531003 137538571 Loss Normal 244K array 17666407 NOT_FOUND chr2 137531020 138341676 LOH Normal High-resolution SNP genotyping 21211785 THSD7B chr21 37536287 37704000 Deletion Down syndrome Fluorescent in situ hybridization 21154855 DOPEY2,MORC3 chr2 137551633 137551783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 37616220 37616320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOPEY2 chr2 137620139 137620239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137647798 138269019 Gain and loss Pancreatic cancer SNP array 17952125 THSD7B chr21 37661106 37809347 Gain and loss Pancreatic cancer SNP array 17952125 CHAF1B,DOPEY2,MORC3 chr21 37661728 37809549 Copy number Lung cancer - 20668451 CHAF1B,DOPEY2,MORC3 chr21 37661728 37809549 Gain or loss Breast cancer - 20668451 CHAF1B,DOPEY2,MORC3 chr21 37661728 37809549 Gain or loss Cancer - 20668451 CHAF1B,DOPEY2,MORC3 chr21 37661728 37809549 Gain or loss Lung cancer - 20668451 CHAF1B,DOPEY2,MORC3 chr21 37661728 37809549 Gain or loss Ovarian cancer - 20668451 CHAF1B,DOPEY2,MORC3 chr21 37661728 37809549 Gain or loss Pancreas cancer - 20668451 CHAF1B,DOPEY2,MORC3 chr21 37661728 37809549 Gain or loss Prostate cancer - 20668451 CHAF1B,DOPEY2,MORC3 chr21 37661729 37809347 Amplification T-cell lymphomas Array-CGH 22341440 CHAF1B,DOPEY2,MORC3 chr21 37661749 37809550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHAF1B,DOPEY2,MORC3 chr21 37661749 37809550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHAF1B,DOPEY2,MORC3 chr2 137704314 138340530 LOH Normal High-resolution SNP genotyping 21211785 THSD7B chr21 37706601 37800900 Deletion Glioma mate-paired sequence 20126413 CHAF1B,MORC3 chr2 137710438 137711112 Loss Normal 244K array 17666407 NOT_FOUND chr2 137716840 138778369 LOH Normal High-resolution SNP genotyping 21211785 HNMT,THSD7B chr21 37717328 37872927 Deletion Down syndrome Fluorescent in situ hybridization 21154855 CHAF1B,CLDN14,MORC3 chr2 137722269 138188697 Duplication Normal Affymetrix 6.0 microarrays 20967226 THSD7B chr21 37727512 38987173 Heterozygous deletion Pleomorphic xanthoastrocytoma SNP array 20730472 CHAF1B,CLDN14,DSCR3,DSCR6,DSCR9,DYRK1A,HLCS,MORC3,PIGP,SIM2,TTC3 chr2 137728721 137969497 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-381K arrays 21546498 THSD7B chr2 137754967 140438285 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HNMT,LOC647012,NXPH2,SPOPL,THSD7B chr2 137823437 137868189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THSD7B chr2 13782886 13782944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137854304 137854404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 137899894 137906903 Loss Normal 244K array 17666407 THSD7B chr21 37918655 38210566 Gain and loss Pancreatic cancer SNP array 17952125 CLDN14,HLCS,SIM2 chr21 37918655 38210619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLDN14,HLCS,SIM2 chr21 37918655 38210619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLDN14,HLCS,SIM2 chr21 37918659 38210566 Amplification T-cell lymphomas Array-CGH 22341440 CLDN14,HLCS,SIM2 chr2 137931415 137931515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 137961759 137962102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD7B chr21 37970031 46925923 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCG1,ADARB1,AGPAT3,AIRE,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf88,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM207A,FAM3B,HLCS,HMGN1,HSF2BP,ICOSLG,IGSF5,ITGB2,ITGB2-AS1,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SH3BGR,SIK1,SIM2,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 37983532 37983632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 137986138 137986250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD7B chr21 37987274 37987374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 38001884 38001884 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 138048648 138048798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 138078004 138078104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 138103427 138103514 Gain and loss Pancreatic cancer SNP array 17952125 THSD7B chr2 138103928 138103960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 138108156 138108256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 138121688 141798714 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HNMT,LOC647012,LRP1B,NXPH2,SPOPL,THSD7B chr2 138142901 138143001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr21 38152962 39301359 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DSCR3,DSCR6,DSCR9,DYRK1A,HLCS,KCNJ6,PIGP,TTC3 chr2 138176780 138176941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 138185639 138186081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD7B chr2 138187170 138187401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD7B chr2 138189372 138189482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THSD7B chr21 38202324 38248322 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HLCS chr2 138206586 138206960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD7B chr2 138206590 138206960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD7B chr2 138216404 138216513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD7B chr21 38240241 38245438 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HLCS chr21 38245598 38415324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCR6,HLCS chr21 38245598 38415324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCR6,HLCS chr21 38267053 38267128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HLCS chr21 38270144 38270226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HLCS chr21 38278901 39468000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DSCR3,DSCR4,DSCR6,DSCR9,DYRK1A,HLCS,KCNJ6,PIGP,TTC3 chr2 138292947 138293047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 138306634 138306738 Gain and loss Pancreatic cancer SNP array 17952125 THSD7B chr2 138306634 138306742 Gain and loss Pancreatic cancer SNP array 17952125 THSD7B chr21 38320771 41854966 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCAM-AS1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,HLCS,HMGN1,IGSF5,KCNJ15,KCNJ6,LCA5L,LINC00114,MIR4760,PCP4,PIGP,PSMG1,SH3BGR,TTC3,WRB chr2 138333938 138334153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THSD7B chr21 38345000 38345100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HLCS chr21 38348819 38415219 Gain and loss Pancreatic cancer SNP array 17952125 DSCR6,HLCS chr2 138354287 138354371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr2 138355189 138355289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THSD7B chr21 38401301 38405500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr21 38403065 38403434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 138413047 138516208 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 THSD7B chr21 38415437 38450475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGP,TTC3 chr21 38415437 38450475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGP,TTC3 chr21 38416296 38450366 Gain and loss Pancreatic cancer SNP array 17952125 PIGP,TTC3 chr21 38418578 38448121 Gain and loss Pancreatic cancer SNP array 17952125 PIGP,TTC3 chr21 38430833 38430897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 138438060 138490403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 138438060 138490403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 38477680 39953480 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DSCR10,DSCR3,DSCR4,DSCR8,DSCR9,DYRK1A,ERG,KCNJ15,KCNJ6,TTC3 chr2 138479322 143365272 Deletion Cancer Affymetrix 250K Sty array 20164920 HNMT,LOC647012,LRP1B,NXPH2,SPOPL chr21 38481426 38481526 Gain and loss Pancreatic cancer SNP array 17952125 TTC3 chr21 38481426 38481526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC3 chr2 138493701 139140527 LOH Normal High-resolution SNP genotyping 21211785 HNMT chr21 38500120 38502608 Gain and loss Pancreatic cancer SNP array 17952125 TTC3 chr21 38512397 38512742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC3 chr21 38532019 38532456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC3 chr21 38543136 38574473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC3 chr21 38550533 38595618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCR9,TTC3 chr21 38550533 38595618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCR9,TTC3 chr21 38550534 38595618 Amplification T-cell lymphomas Array-CGH 22341440 DSCR9,TTC3 chr21 38550534 38595618 Gain and loss Pancreatic cancer SNP array 17952125 DSCR9,TTC3 chr2 138555540 138605968 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 38573989 38576625 Loss Normal 244K array 17666407 TTC3 chr21 38584860 42033506 Deletion Cancer Affymetrix 250K Sty array 20164920 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR8,DSCR9,DYRK1A,ERG,ETS2,HMGN1,IGSF5,KCNJ15,KCNJ6,LCA5L,LINC00114,MIR4760,PCP4,PSMG1,SH3BGR,WRB chr21 38593233 38593449 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DSCR9 chr21 38600000 41400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCR10,DSCR3,DSCR4,DSCR8,DYRK1A,ERG,ETS2,HMGN1,IGSF5,KCNJ15,KCNJ6,LCA5L,LINC00114,PCP4,PSMG1,SH3BGR,WRB chr21 38600000 41400000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCR10,DSCR3,DSCR4,DSCR8,DYRK1A,ERG,ETS2,HMGN1,IGSF5,KCNJ15,KCNJ6,LCA5L,LINC00114,PCP4,PSMG1,SH3BGR,WRB chr21 38600000 41400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCR10,DSCR3,DSCR4,DSCR8,DYRK1A,ERG,ETS2,HMGN1,IGSF5,KCNJ15,KCNJ6,LCA5L,LINC00114,PCP4,PSMG1,SH3BGR,WRB chr21 38600000 46944323 Copy number Prostate cancer - 21088497 ABCG1,ADARB1,AGPAT3,AIRE,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf88,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR8,DYRK1A,ERG,ETS2,FAM207A,FAM3B,HMGN1,HSF2BP,ICOSLG,IGSF5,ITGB2,ITGB2-AS1,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PCP4,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PSMG1,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SH3BGR,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 38650000 38850000 Gain Acute lymphoblastic leukemia - 21339820 DYRK1A chr21 38659578 38954014 Amplification or deletion Cancer Array CGH 17440070 DYRK1A chr21 38661052 38955488 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 DYRK1A chr21 38661052 38955488 Gain or loss Breast cancer - 20668451 DYRK1A chr21 38661052 38955488 Gain or loss Cancer - 20668451 DYRK1A chr21 38661052 38955488 Gain or loss Lung cancer - 20668451 DYRK1A chr21 38661052 38955488 Gain or loss Ovarian cancer - 20668451 DYRK1A chr21 38661052 38955488 Gain or loss Pancreas cancer - 20668451 DYRK1A chr21 38661052 38955488 Gain or loss Prostate cancer - 20668451 DYRK1A chr21 38661052 38955488 Rearrangement Prostate cancer array-based CGH 17079440 DYRK1A chr21 38662164 38662248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 38672131 38694076 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 38672715 38702143 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 38673819 38955488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYRK1A chr21 38673819 38955488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYRK1A chr21 38673821 38792174 Fusion Prostate cancer Neighborhood Breakpoint Conservation 21510904 DYRK1A chr21 38675671 38878739 Amplification T-cell lymphomas Array-CGH 22341440 DYRK1A chr21 38675671 38955488 Gain and loss Pancreatic cancer SNP array 17952125 DYRK1A chr21 38693324 38693409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 38706000 38729000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr21 38733646 38733746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 38743162 38743230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYRK1A chr2 138762069 138762767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNMT chr2 138762069 138762767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNMT chr21 38769791 38769891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYRK1A chr21 38785758 38785862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYRK1A chr21 38796239 38796415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYRK1A chr21 38801128 41797615 Deletion Prostate cancer array-based comparativegenomic hybridization 21147910 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCAM-AS1,DSCR10,DSCR4,DSCR8,DYRK1A,ERG,ETS2,HMGN1,IGSF5,KCNJ15,KCNJ6,LCA5L,LINC00114,MIR4760,PCP4,PSMG1,SH3BGR,WRB chr2 138813087 138857876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 38822217 38822540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYRK1A chr21 38833464 38838949 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYRK1A chr2 138839200 138839300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 38850410 38858083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DYRK1A chr21 38860275 41778211 Deletion Prostate cancer array-based comparativegenomic hybridization 21147910 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCAM-AS1,DSCR10,DSCR4,DSCR8,DYRK1A,ERG,ETS2,HMGN1,IGSF5,KCNJ15,KCNJ6,LCA5L,LINC00114,MIR4760,PCP4,PSMG1,SH3BGR,WRB chr2 138876258 138999006 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 138895025 138895139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 38936404 38936499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 138973736 138973836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 138975841 139047267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 138975841 139047267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 38987313 38987413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 39004351 39004558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ6 chr21 39004570 39004713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ6 chr21 39014435 39046153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNJ6 chr21 39019555 39028514 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 KCNJ6 chr21 39031628 39031728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ6 chr2 139034447 139034547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 39036012 39076182 Gain Normal Birdsuite, version 1.5.2 22087296 KCNJ6 chr2 139043618 139043702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 139074101 139225900 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 39082810 39082890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ6 chr2 13909036 13909136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 139093103 139164529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 39096817 39096913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ6 chr21 39099100 39118748 Gain or loss Breast cancer - 20668451 KCNJ6 chr21 39099100 39118748 Gain or loss Cancer - 20668451 KCNJ6 chr21 39099100 39118748 Gain or loss Lung cancer - 20668451 KCNJ6 chr21 39099100 39118748 Gain or loss Ovarian cancer - 20668451 KCNJ6 chr21 39099100 39118748 Gain or loss Pancreas cancer - 20668451 KCNJ6 chr21 39099100 39118748 Gain or loss Prostate cancer - 20668451 KCNJ6 chr21 39099101 39118746 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ6 chr21 39099101 39118749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNJ6 chr21 39099101 39118749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ6 chr21 39099719 39118749 Amplification T-cell lymphomas Array-CGH 22341440 KCNJ6 chr21 39103330 39137496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNJ6 chr2 139144812 139254388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 139144812 139254388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 13915070 16977976 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DDX1,FAM49A,FAM84A,MYCN,MYCNOS,NBAS chr2 1391604 1425116 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TPO chr21 39171085 39232223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNJ6 chr21 39171085 39232223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ6 chr21 39188711 39189046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ6 chr21 39220880 39220980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ6 chr21 39235347 39367443 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 KCNJ6 chr21 39251185 39251285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ6 chr21 39259883 39259973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ6 chr2 139262224 139262979 Gain and loss Pancreatic cancer SNP array 17952125 SPOPL chr21 39266177 39266498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNJ6 chr21 39287850 39304359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNJ6 chr21 39316796 39317098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 139337606 139337935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 39414436 40020646 LOH Normal High-resolution SNP genotyping 21211785 DSCR10,DSCR4,DSCR8,ERG,KCNJ15 chr21 39416468 39424440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 39421364 39421836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 39421364 39421836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 39421372 39421836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 39426162 39426262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 39427282 39427377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCR4 chr21 39431743 39431796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCR4 chr2 139454873 139455197 Gain and loss Pancreatic cancer SNP array 17952125 NXPH2 chr2 139454960 139455197 Gain and loss Pancreatic cancer SNP array 17952125 NXPH2 chr21 39455601 39455683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCR4 chr2 139457243 139457337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NXPH2 chr21 39464926 39465902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCR4 chr21 39468001 39670400 Copy number Normal ReadDepth: A Parallel R Package 21305028 DSCR10,DSCR4,DSCR8,KCNJ15 chr21 39468565 39477198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCR4 chr21 39468565 39477198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCR4 chr21 39469256 39477310 Amplification T-cell lymphomas Array-CGH 22341440 DSCR4 chr21 39469264 39477310 Gain and loss Pancreatic cancer SNP array 17952125 DSCR4 chr21 39479274 39607426 Amplification T-cell lymphomas Array-CGH 22341440 DSCR10,DSCR4,DSCR8 chr21 39479274 39607426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCR10,DSCR4,DSCR8 chr21 39479274 39607426 Gain and loss Pancreatic cancer SNP array 17952125 DSCR10,DSCR4,DSCR8 chr21 39479274 39607426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCR10,DSCR4,DSCR8 chr21 39488109 39488165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCR4 chr2 139492735 139494049 Gain and loss Pancreatic cancer SNP array 17952125 NXPH2 chr21 39498231 39498331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCR8 chr21 39510420 39511302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCR8 chr21 39519524 39519612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCR8 chr21 39529182 39529816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 39529188 39529816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 139538191 140618753 LOH Normal High-resolution SNP genotyping 21211785 LOC647012 chr21 39553689 39729222 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 DSCR10,KCNJ15 chr21 39554110 39554204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 139564813 139702127 Gain Stenocardia MACArray Karyo 12K BAC-chips 21860640 LOC647012 chr2 139564813 139702127 Gain Vasospasm MACArray Karyo 12K BAC-chips 21860640 LOC647012 chr21 39594514 39594614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 39607776 39608213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 1396242 1525502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPO chr2 1396242 1525502 Gain and loss Pancreatic cancer SNP array 17952125 TPO chr2 1396242 1525502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPO chr2 139634676 139634856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 139634846 139634984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 39636110 39643140 Gain or loss Breast cancer - 20668451 KCNJ15 chr21 39636110 39643140 Gain or loss Cancer - 20668451 KCNJ15 chr21 39636110 39643140 Gain or loss Lung cancer - 20668451 KCNJ15 chr21 39636110 39643140 Gain or loss Ovarian cancer - 20668451 KCNJ15 chr21 39636110 39643140 Gain or loss Pancreas cancer - 20668451 KCNJ15 chr21 39636110 39643140 Gain or loss Prostate cancer - 20668451 KCNJ15 chr21 39636117 39642917 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ15 chr21 39636117 39643443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNJ15 chr21 39636117 39643443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ15 chr21 39638340 39638419 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ15 chr2 13964040 14252587 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 39644689 39644906 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ15 chr21 39644689 39644906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ15 chr2 139658808 139658857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 39667559 39670862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ15 chr21 39670401 43161800 Copy number Normal ReadDepth: A Parallel R Package 21305028 B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCAM-AS1,DSCAM-IT1,ERG,ETS2,FAM3B,HMGN1,IGSF5,KCNJ15,LCA5L,LINC00111,LINC00112,LINC00114,LINC00323,LINC00479,MIR3197,MIR4760,MX1,MX2,PCP4,PLAC4,PSMG1,RIPK4,SH3BGR,TMPRSS2,WRB chr21 39674109 39691685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 39674109 39691685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 39674139 39691486 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr21 39674140 39691486 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 39674140 39691496 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 139692079 139692560 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 39699640 39737998 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr21 39699640 39739573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39699640 39739573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39699644 39739529 Gain and loss Pancreatic cancer SNP array 17952125 ERG chr21 39700000 42600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCAM-AS1,DSCAM-IT1,ERG,ETS2,HMGN1,IGSF5,LCA5L,LINC00114,LINC00323,MIR3197,MIR4760,PCP4,PLAC4,PSMG1,SH3BGR,WRB chr21 39700000 42600000 Deletion Prostate cancer Affymetrix 50K SNP mapping array 17245344 B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCAM-AS1,DSCAM-IT1,ERG,ETS2,HMGN1,IGSF5,LCA5L,LINC00114,LINC00323,MIR3197,MIR4760,PCP4,PLAC4,PSMG1,SH3BGR,WRB chr21 39700000 48129895 Deletion Prostate cancer FISH 20473283 ABCG1,ADARB1,AGPAT3,AIRE,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf88,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,ERG,ETS2,FAM207A,FAM3B,FTCD,HMGN1,HSF2BP,ICOSLG,IGSF5,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SH3BGR,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 39700000 48129895 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 ABCG1,ADARB1,AGPAT3,AIRE,B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf88,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,ERG,ETS2,FAM207A,FAM3B,FTCD,HMGN1,HSF2BP,ICOSLG,IGSF5,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LCA5L,LINC00111,LINC00112,LINC00114,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PCBP3,PCNT,PCP4,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PRMT2,PSMG1,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SH3BGR,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,WRB,YBEY,ZNF295,ZNF295-AS1 chr21 39739183 40033618 Gain Prostate cancer FISH 20562851 ERG chr21 39739661 39809294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39739661 39809294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39745650 39809291 Gain and loss Pancreatic cancer SNP array 17952125 ERG chr21 39745688 39809303 Amplification T-cell lymphomas Array-CGH 22341440 ERG chr2 139760269 139760369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 139764056 139808736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 39778712 39778862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERG chr21 39782123 39782556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39785340 39785694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERG chr2 139793519 139794772 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 139796117 140372425 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-303K arrays 21546498 NOT_FOUND chr21 39803735 39804038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERG chr2 139817548 139863279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 39819380 39823652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39840840 39887845 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ERG chr21 39850239 39956686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39850239 39956686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERG chr2 139871267 139871421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 39877616 39877893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERG chr2 139879972 139880062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 39880535 39884811 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ERG chr2 139888641 139888716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 39890949 39906618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39890949 39906618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERG chr21 39891501 39906621 Gain and loss Pancreatic cancer SNP array 17952125 ERG chr21 39903510 39909353 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ERG chr21 39906277 39906377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERG chr21 39941522 40796908 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BRWD1,BRWD1-AS1,BRWD1-IT2,ERG,ETS2,HMGN1,LCA5L,LINC00114,PSMG1,WRB chr21 39951123 39956685 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ERG chr21 39951124 39956685 Amplification T-cell lymphomas Array-CGH 22341440 ERG chr21 39953548 39956685 Gain and loss Pancreatic cancer SNP array 17952125 ERG chr2 139962981 139963201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 139985464 139985595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 39986567 39986657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERG chr21 39993142 39993242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERG chr21 40039307 40095893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 40039307 40095893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140045606 140045691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40059331 40095878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140102726 140102857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 40138863 40139020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00114 chr21 40144080 40144180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00114 chr21 40149994 40150084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40161217 40223190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ETS2 chr21 40161217 40223190 Gain and loss Pancreatic cancer SNP array 17952125 ETS2 chr21 40161217 40223190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETS2 chr21 40161250 40223183 Amplification T-cell lymphomas Array-CGH 22341440 ETS2 chr21 40165171 40295171 Loss Prostate cancer Array CGH 18632612 ETS2 chr21 40181579 40215774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ETS2 chr21 40204217 40204317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40204769 40204869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40243021 40277082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 140255370 140255470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140260185 140260593 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 40260940 40273012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 140268368 140268453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40280746 40280846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140300731 140300820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140302573 140302673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40304796 41140935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,HMGN1,IGSF5,LCA5L,PSMG1,SH3BGR,WRB chr21 40304796 41140935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,HMGN1,IGSF5,LCA5L,PSMG1,SH3BGR,WRB chr21 40306213 41140909 Amplification T-cell lymphomas Array-CGH 22341440 B3GALT5,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,HMGN1,IGSF5,LCA5L,PSMG1,SH3BGR,WRB chr21 40306717 41002568 Gain and loss Pancreatic cancer SNP array 17952125 BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,HMGN1,LCA5L,PSMG1,SH3BGR,WRB chr2 140319499 140319599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140321113 140321213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40334512 42637684 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 B3GALT5,BACE2,BRWD1,BRWD1-AS1,BRWD1-IT2,C21orf88,DSCAM,DSCAM-AS1,DSCAM-IT1,HMGN1,IGSF5,LCA5L,LINC00323,MIR3197,MIR4760,PCP4,PLAC4,PSMG1,SH3BGR,WRB chr2 140345738 140345838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40353414 40353514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140376120 141002609 LOH Normal High-resolution SNP genotyping 21211785 LRP1B chr2 140394885 140394975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140402652 140402752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140412706 140449750 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140430138 140430227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140432800 140435258 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 40442959 40443680 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 140456723 140456957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140458178 140520874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 40458284 40491292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 140464501 140467500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 40466951 40489050 Loss Congenital heart defects - 20877625 NOT_FOUND chr21 40467200 40467284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40474357 40474435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140482724 140483049 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 40498322 40498993 Gain Normal 244K array 17666407 NOT_FOUND chr21 40508736 40509060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 40538386 40538486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140550407 140550717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140559497 140893897 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 140571812 140571912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140573985 140574219 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 40580545 40580648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BRWD1 chr21 40580563 40580666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BRWD1 chr21 40592263 40596079 Loss Normal - 20877625 BRWD1 chr2 140595894 140595987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 40629163 40629263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRWD1 chr2 140631458 140631548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140691291 140691356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140691457 140691520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140691532 140691599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140691609 140691676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140694408 140694473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140694475 140694546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140694558 140694601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140695528 140695595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140697147 140697215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140698191 140698261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 140705468 142604768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP1B chr2 140705468 142604768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP1B chr21 40721976 41636158 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B3GALT5,C21orf88,DSCAM,IGSF5,LCA5L,MIR4760,PCP4,SH3BGR,WRB chr21 40733482 40733582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140773021 140773108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140785573 140785673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 140789404 140939061 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr21 40792246 45075646 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCG1,B3GALT5,BACE2,C21orf128,C21orf88,C2CD2,CBS,CRYAA,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM3B,HSF2BP,IGSF5,LCA5L,LINC00111,LINC00112,LINC00313,LINC00319,LINC00323,LINC00479,MIR3197,MIR4760,MX1,MX2,NDUFV3,PCP4,PDE9A,PKNOX1,PLAC4,PRDM15,RIPK4,RSPH1,SH3BGR,SIK1,SLC37A1,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,U2AF1,UBASH3A,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 40806941 40807076 Gain and loss Pancreatic cancer SNP array 17952125 LCA5L chr21 40806941 40807076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCA5L chr2 140808553 140808618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140808618 140808684 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140808719 140808782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140808794 140808861 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140808871 140808938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140811670 140811735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140811737 140811808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140811820 140811863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140812790 140812857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140814409 140814477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140814490 140824568 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 40814752 40814835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LCA5L chr2 140815154 140815432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 140815453 140815523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 40816091 40828057 Gain Normal Birdsuite, version 1.5.2 22087296 LCA5L,SH3BGR chr2 140822732 142722030 Gain and loss Pancreatic cancer SNP array 17952125 LRP1B chr2 140858692 140892739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 40871301 40871408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3BGR chr21 40879119 40879237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SH3BGR chr21 40928708 40928793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40944845 40944945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 40950000 42690000 Loss Breast cancer aCGH 21509527 B3GALT5,BACE2,C21orf88,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM3B,IGSF5,LINC00323,MIR3197,MIR4760,PCP4,PLAC4 chr21 40973362 40973446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C21orf88 chr21 40976439 40976604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C21orf88 chr2 140988995 142889269 Deletion Prostate cancer aCGH 22341455 LRP1B chr2 141028685 142392588 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LRP1B chr21 41038690 41038799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 41040051 41084271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 141054995 141055066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 41055545 41055615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 41055545 41055615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 14107547 14117011 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr21 41081522 41115980 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 141101403 141101503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 41149506 41149606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF5 chr21 41157388 41988902 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DSCAM,DSCAM-AS1,IGSF5,MIR4760,PCP4 chr21 41223092 41223190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 41236572 41236636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 41263717 41263771 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 PCP4 chr2 141270024 142325253 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRP1B chr2 141274679 141275189 Gain and loss Pancreatic cancer SNP array 17952125 LRP1B chr2 141296471 141296571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 14130913 14130981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 41322814 41322914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 41324753 41325073 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 41355551 41355651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 41379908 41380062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 41400000 46944323 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Copy number Normal - 21701786 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Duplication Non-syndromic sensorineural hearing loss array CGH 17457615 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Gain Non-small cell lung cancer dChip 21829676 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41400000 46944323 Translocation Acute myeloid leukemia parental-origin-determination fluorescence in situ hybridization 21358987 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41403021 41411848 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 DSCAM chr21 41405037 41405137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 41406501 41833500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DSCAM,DSCAM-AS1,MIR4760 chr2 141408533 141641461 Copy number loss Normal High-resolution SNP genotyping 21211785 LRP1B chr21 41418492 41446826 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr2 141423923 141424010 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRP1B chr21 41434215 41434444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr2 141443624 141443724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 14144699 14178366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 41451878 41452058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 41451963 41452063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 41461598 41570378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41461598 41570378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41461598 41570394 Amplification T-cell lymphomas Array-CGH 22341440 DSCAM chr21 41461598 41570394 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr2 141466582 141466694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP1B chr2 14147119 14147209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 41473220 41480139 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 41473220 41480139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41478994 41585839 Copy number loss Normal High-resolution SNP genotyping 21211785 DSCAM,MIR4760 chr21 41501909 46944323 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41511920 41511990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 41514980 46912065 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MIR4760,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41530306 41564847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DSCAM chr2 141533894 141533994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 141534056 141534146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 141534067 141534272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 1415421 1415528 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 141557011 141854532 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LRP1B chr21 41568947 41572987 Loss Congenital heart defects - 20877625 DSCAM chr2 141583844 141583954 Gain and loss Pancreatic cancer SNP array 17952125 LRP1B chr2 141583844 141583958 Gain and loss Pancreatic cancer SNP array 17952125 LRP1B chr21 41586706 41586806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr2 141590067 141951947 Deletion Esophageal cancer affymetrix genechip human mapping 265K Nsp arrays 21851588 LRP1B chr2 1 41600000 Loss Breast cancer Conventional CGH 17393978 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CRIM1,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FEZ2,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00487,LINC00570,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC375196,LOC400940,LOC645949,LOC727982,LOC728730,LOC730811,LPIN1,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR558,MORN2,MPV17,MRPL33,MSGN1,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PRKD3,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOS1,SOX11,SPAST,SPDYA,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THUMPD2,TMEM178A,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC27,TTC32,UBXN2A,UCN,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZNF512,ZNF513 chr21 41606431 46914745 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41610526 41651524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41610526 41651524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41610531 41651524 Amplification T-cell lymphomas Array-CGH 22341440 DSCAM chr21 41610531 41651524 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 41614504 45077643 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ABCG1,BACE2,C21orf128,C2CD2,CBS,CRYAA,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM3B,HSF2BP,LINC00111,LINC00112,LINC00313,LINC00319,LINC00323,LINC00479,MIR3197,MX1,MX2,NDUFV3,PDE9A,PKNOX1,PLAC4,PRDM15,RIPK4,RSPH1,SIK1,SLC37A1,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,U2AF1,UBASH3A,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41626803 41689122 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 DSCAM chr21 41630602 46912065 Loss Prostate cancer Array CGH 18632612 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,DSCAM,DSCAM-AS1,DSCAM-IT1,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 41655819 41702739 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DSCAM chr21 41655820 41702739 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 41655820 41702740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41655820 41702740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41655827 41661103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr2 141666036 141705031 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 LRP1B chr2 141678150 141913025 Deletion Normal Affymetrix 6.0 microarrays 20967226 LRP1B chr21 41714312 41753011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41714312 41753011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr2 141722888 141726752 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LRP1B chr21 41725511 41753006 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr2 141743631 141743691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 41750797 41801948 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM,DSCAM-AS1 chr21 41756876 41800474 Amplification or deletion Cancer Array CGH 17440070 DSCAM,DSCAM-AS1 chr21 41758349 41791930 Fusion Prostate cancer Neighborhood Breakpoint Conservation 21510904 DSCAM chr21 41758350 41824913 Gain or loss Breast cancer - 20668451 DSCAM chr21 41758350 41824913 Gain or loss Cancer - 20668451 DSCAM chr21 41758350 41824913 Gain or loss Lung cancer - 20668451 DSCAM chr21 41758350 41824913 Gain or loss Ovarian cancer - 20668451 DSCAM chr21 41758350 41824913 Gain or loss Pancreas cancer - 20668451 DSCAM chr21 41758350 41824913 Gain or loss Prostate cancer - 20668451 DSCAM chr21 41758350 41824913 Rearrangement Prostate cancer array-based CGH 17079440 DSCAM chr21 41758351 41801948 Amplification T-cell lymphomas Array-CGH 22341440 DSCAM chr21 41758351 41801948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41758351 41801948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41758809 41758909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 41759294 41759333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr2 1417954 1418043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPO chr21 41833003 41833123 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 41833003 41833123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 41833676 41833776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 41833809 41834257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DSCAM chr2 141852913 141853067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 141852916 141853016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 41854966 43167667 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 BACE2,DSCAM,DSCAM-IT1,FAM3B,LINC00111,LINC00112,LINC00323,LINC00479,MIR3197,MX1,MX2,PLAC4,RIPK4,TMPRSS2 chr2 141861456 141861556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 41890501 42575000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BACE2,DSCAM,DSCAM-IT1,LINC00323,MIR3197,PLAC4 chr2 141893831 141893931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 141905123 142051301 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LRP1B chr21 41908795 41940055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DSCAM chr21 41910517 41913155 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DSCAM chr21 41910534 41912148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DSCAM chr21 41915923 41916022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr2 141916407 141916439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 41934272 45206617 Loss Neuroblastoma aCGH 20406844 ABCG1,BACE2,C21orf128,C2CD2,CBS,CRYAA,CSTB,DSCAM,DSCAM-IT1,FAM3B,HSF2BP,LINC00111,LINC00112,LINC00313,LINC00319,LINC00323,LINC00479,MIR3197,MX1,MX2,NDUFV3,PDE9A,PDXK,PKNOX1,PLAC4,PRDM15,RIPK4,RRP1B,RSPH1,SIK1,SLC37A1,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,U2AF1,UBASH3A,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr2 141961383 142463966 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRP1B chr21 41987037 42881629 Gain and loss Pancreatic cancer SNP array 17952125 BACE2,DSCAM,DSCAM-IT1,FAM3B,LINC00323,MIR3197,MX1,MX2,PLAC4,TMPRSS2 chr21 42004749 42009004 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr2 142021272 142072644 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LRP1B chr2 142027764 142027839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 42032598 42060318 Amplification T-cell lymphomas Array-CGH 22341440 DSCAM chr21 42032614 42060335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 42032614 42060335 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 42032614 42060335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 42038513 42038613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr2 142041772 142045516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRP1B chr2 142067469 142067793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRP1B chr21 42069171 42069271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 42082262 42082362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 42091454 42172660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 42091454 42172660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 42094394 42172660 Amplification T-cell lymphomas Array-CGH 22341440 DSCAM chr21 42094394 42172660 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 42098001 42101800 Deletion Glioma mate-paired sequence 20126413 DSCAM chr21 42099715 42225282 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 42103659 42103691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 42111814 42111907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DSCAM chr21 42123984 42136309 Loss Congenital heart defects - 20877625 DSCAM chr21 42124137 42238168 Gain Stenocardia MACArray Karyo 93K BAC-chips 21860640 DSCAM chr21 42124137 42238168 Gain Vasospasm MACArray Karyo 93K BAC-chips 21860640 DSCAM chr21 42158252 42158340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DSCAM chr21 42175401 42175478 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 42178288 42247068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 42178288 42247068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 42178291 42219847 Amplification T-cell lymphomas Array-CGH 22341440 DSCAM chr21 42178291 42246826 Gain and loss Pancreatic cancer SNP array 17952125 DSCAM chr21 42186898 42188568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 42194562 42233408 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 DSCAM chr21 42195248 42243770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DSCAM chr21 42205667 42205950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DSCAM chr21 42223186 42226554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 42223189 42226495 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr21 42223189 42226495 Loss Congenital heart defects - 20877625 NOT_FOUND chr21 42247678 42247778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 42258701 42263000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr21 42260311 42261271 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 142278054 143490611 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LRP1B chr21 42280009 42303519 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 42280009 42303565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 42280009 42303565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 42281386 42282665 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr21 42285632 46755790 Triplication Acute myeloid leukemia - 21251322 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,CRYAA,CSTB,DNMT3L,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00323,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 42291738 42291838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 42293012 42293112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 42302372 42318091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 42304938 42305038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 142323740 142323810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 142325154 142325361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 142325352 142325502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 1423402 1423502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPO chr21 42344065 42361085 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 42344299 42344399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 42344844 42361085 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 42345027 42359237 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 42356137 42436174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 42356137 42436174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 42359237 43069463 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BACE2,FAM3B,LINC00323,MIR3197,MX1,MX2,PLAC4,TMPRSS2 chr21 42395313 42401627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 42395313 42401627 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 42395313 42401627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 142400000 144700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP15,KYNU,LRP1B chr21 42413698 42436174 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 42424582 42424830 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 142436757 143338649 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRP1B chr21 42451079 43016048 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BACE2,FAM3B,LINC00323,MIR3197,MX1,MX2,PLAC4,TMPRSS2 chr2 142472627 148399777 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP15,DKFZp686O1327,GTDC1,KYNU,LRP1B,PABPC1P2,ZEB2,ZEB2-AS1 chr21 42474410 42474497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 42481725 42560211 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 BACE2,LINC00323,MIR3197,PLAC4 chr21 42492868 42590423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BACE2,LINC00323,MIR3197,PLAC4 chr21 42492868 42590423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACE2,LINC00323,MIR3197,PLAC4 chr2 142505358 142505582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRP1B chr21 42509335 42590421 Gain and loss Pancreatic cancer SNP array 17952125 BACE2,LINC00323,MIR3197,PLAC4 chr21 42514352 42514465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00323 chr21 42514356 42514466 Gain and loss Pancreatic cancer SNP array 17952125 LINC00323 chr21 42514356 42514466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00323 chr2 142523103 142523203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 42526105 46914745 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,FAM207A,FAM3B,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC284837,LOC642852,LRRC3,LRRC3-AS1,MIR3197,MX1,MX2,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PLAC4,POFUT2,PRDM15,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr2 142532296 142532396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 42544504 42590258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BACE2,PLAC4 chr21 42551109 42551276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BACE2,PLAC4 chr21 42575001 42578000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BACE2 chr21 42577083 42577447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BACE2 chr21 42578001 43162000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BACE2,FAM3B,LINC00111,LINC00112,LINC00479,MX1,MX2,RIPK4,TMPRSS2 chr21 42593453 42593524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACE2 chr21 42599463 42608775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BACE2 chr21 42599463 42608775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACE2 chr21 42600000 48129895 Amplification Cholangiocarcinoma Quantitative PCR 16830362 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Copy number Down syndrome Western blotting and immunohistochemistry 17334655 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Copy number Neuroticism SNP array 17667963 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Copy number Prostate cancer 250K Sty SNP Array 19156837 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Deletion Adenoid cystic carcinoma Array CGH 18698036 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Deletion Autoimmune polyendocrine syndrome duplex quantitative PCR 18200029 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Deletion Prostate cancer 250K Sty SNP Array 19156837 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Gain and amplification Multiple myeloma Array CGH 16616336 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42600000 48129895 Gain Salivary gland adenoid cystic carcinoma Genome-wide scanning BAC array 17545515 ABCG1,ADARB1,AGPAT3,AIRE,BACE2,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FAM3B,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00111,LINC00112,LINC00162,LINC00163,LINC00313,LINC00319,LINC00479,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,MX1,MX2,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RIPK4,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS2,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 42605233 42608775 Gain and loss Pancreatic cancer SNP array 17952125 BACE2 chr21 42639538 42644176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BACE2 chr21 42639538 42644176 Gain and loss Pancreatic cancer SNP array 17952125 BACE2 chr21 42639538 42644176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BACE2 chr21 42655462 42659713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 42655462 42659713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 42655462 42659713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 142657516 142657616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr2 142658517 142658617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 42665068 42690024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM3B chr21 42665068 42690024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM3B chr21 42665069 42689269 Gain and loss Pancreatic cancer SNP array 17952125 FAM3B chr21 42697088 42740843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM3B,MX2 chr21 42697088 42740843 Gain and loss Pancreatic cancer SNP array 17952125 FAM3B,MX2 chr21 42697088 42740843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM3B,MX2 chr2 142699811 142699911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP1B chr21 42710705 42710771 Gain and loss Pancreatic cancer SNP array 17952125 FAM3B chr21 42710705 42710771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM3B chr2 142737233 142756651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRP1B chr21 42742786 42742885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MX2 chr21 42765668 42789533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MX2 chr21 42765668 42789533 Gain and loss Pancreatic cancer SNP array 17952125 MX2 chr21 42765668 42789533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MX2 chr21 42773173 42779690 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MX2 chr21 42789186 42874619 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 MX1,TMPRSS2 chr21 42792811 42874619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MX1,TMPRSS2 chr21 42792811 42874619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MX1,TMPRSS2 chr21 42807093 42874599 Gain and loss Pancreatic cancer SNP array 17952125 MX1,TMPRSS2 chr21 42808737 42808837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MX1 chr2 142809517 180606707 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCB11,ACVR1,ACVR1C,ACVR2A,AGPS,ARHGAP15,ARL5A,ARL6IP6,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,CACNB4,CCDC141,CCDC148,CCDC148-AS1,CCDC173,CD302,CDCA7,CERS6,CHN1,CHRNA1,CIR1,COBLL1,CSRNP3,CYBRD1,CYTIP,DAPL1,DCAF17,DFNB59,DHRS9,DKFZp686O1327,DLX1,DLX2,DPP4,DYNC1I2,EPC2,ERMN,EVX2,FAP,FASTKD1,FIGN,FKBP7,FMNL2,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GORASP2,GPD2,GPR155,GRB14,GTDC1,HAT1,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,IFIH1,ITGA6,ITGB6,KBTBD10,KCNH7,KCNJ3,KIAA1715,KIF5C,KLHL23,KYNU,LOC100130691,LOC100144595,LOC100505695,LOC100506124,LOC100506134,LOC100861402,LOC285084,LOC375295,LOC440925,LRP1B,LRP2,LY75,LY75-CD302,LYPD6,LYPD6B,MARCH7,MBD5,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR3128,MIR4444-1,MIR4773-1,MIR4773-2,MIR4774,MIR4785,MIR548N,MIR933,MLK7-AS1,MMADHC,MTX2,MYO3B,NEB,NFE2L2,NMI,NOSTRIN,NR4A2,OLA1,ORC4,OSBPL6,PABPC1P2,PDE11A,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLEKHA3,PPIG,PRKRA,PRPF40A,PSMD14,RAPGEF4,RAPGEF4-AS1,RBM43,RBM45,RBMS1,RIF1,RND3,RPRM,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SESTD1,SLC25A12,SLC38A11,SLC4A10,SNORA70F,SP3,SP5,SP9,SPC25,SSB,STAM2,STK39,TANC1,TANK,TBR1,TLK1,TNFAIP6,TTC21B,TTC30A,TTC30B,TTN,TTN-AS1,UBR3,UPP2,WDSUB1,WIPF1,XIRP2,ZAK,ZEB2,ZEB2-AS1,ZNF385B chr21 42822952 42823052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MX1 chr21 42836479 42879992 Gain Prostate cancer FISH 20562851 TMPRSS2 chr21 42841896 42841996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMPRSS2 chr2 142852454 142852539 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRP1B chr21 42856264 42896225 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMPRSS2 chr2 1428656 1428722 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TPO chr2 142868941 142913636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRP1B chr21 42879555 42879640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMPRSS2 chr21 42943253 42974629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 42946931 43068685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 42946931 43068688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 42946931 43068688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 142974266 142974366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 4300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 1 4300000 Copy number Normal - 20680643 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 1 4300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 1 4300000 Duplication Mental retardation MLPA 17901693 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 1 4300000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 1 4300000 Insert Congenital Hypertrichosis Syndrome Fluorescence in situ hybridization (FISH) 21636067 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 1 4300000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr21 43016879 43326441 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 C2CD2,LINC00111,LINC00112,LINC00479,PRDM15,RIPK4 chr2 143033630 143460997 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr21 43053395 43053444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 143073094 143073182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43082463 43083060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 43086792 43086892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43092417 43092480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 143115699 143115799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43125785 43125875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43136275 43172747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00112,RIPK4 chr21 43136275 43172747 Gain and loss Pancreatic cancer SNP array 17952125 LINC00112,RIPK4 chr21 43136275 43172747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00112,RIPK4 chr2 143151076 143151413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 43161801 43465400 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2CD2,PRDM15,RIPK4,ZNF295,ZNF295-AS1 chr21 43167667 45523797 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCG1,AGPAT3,C21orf128,C2CD2,CBS,CRYAA,CSTB,HSF2BP,LINC00313,LINC00319,LOC284837,NDUFV3,PDE9A,PDXK,PKNOX1,PRDM15,RIPK4,RRP1,RRP1B,RSPH1,SIK1,SLC37A1,TFF1,TFF2,TFF3,TMPRSS3,TRAPPC10,U2AF1,UBASH3A,UMODL1,WDR4,ZNF295,ZNF295-AS1 chr21 43186447 43202841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIPK4 chr21 43186447 43202841 Gain and loss Pancreatic cancer SNP array 17952125 RIPK4 chr21 43186447 43202841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIPK4 chr21 43188383 43194988 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 43209995 43218825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRDM15 chr21 43212202 43218795 Gain and loss Pancreatic cancer SNP array 17952125 PRDM15 chr21 43213207 43213258 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 143227055 143227155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43240694 43240794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM15 chr2 143242213 143242313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 143260037 143287875 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 143261768 143279725 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 143261768 143287875 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 143261768 143288748 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 143267025 143287875 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 43267712 43326757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2CD2,PRDM15 chr21 43267712 43326757 Gain and loss Pancreatic cancer SNP array 17952125 C2CD2,PRDM15 chr21 43267712 43326757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD2,PRDM15 chr2 143275200 143309517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 143279 196704 Gain Autism - 20841430 NOT_FOUND chr2 143279 196704 Gain Normal - 20841430 NOT_FOUND chr21 43283000 52883000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ABCG1,ADARB1,AGPAT3,AIRE,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LINC00313,LINC00319,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRDM15,PRMT2,PTTG1IP,PWP2,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 43309094 43309194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2CD2 chr2 14332197 14332300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143324501 143425700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 14332966 14378423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 43330000 48100000 Gain Breast cancer aCGH 21509527 ABCG1,ADARB1,AGPAT3,AIRE,C21orf128,C21orf2,C21orf33,C21orf56,C21orf58,C21orf67,C21orf90,C2CD2,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,COL6A1,COL6A2,CRYAA,CSTB,DIP2A,DIP2A-IT1,DNMT3L,FAM207A,FTCD,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LINC00313,LINC00319,LOC100129027,LOC284837,LOC642852,LRRC3,LRRC3-AS1,LSS,MCM3AP,MCM3AP-AS1,NDUFV3,PCBP3,PCNT,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PRMT2,PTTG1IP,PWP2,RRP1,RRP1B,RSPH1,S100B,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4,YBEY,ZNF295,ZNF295-AS1 chr21 43330001 43349500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2CD2 chr2 143343326 143343426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43346370 43369541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2CD2 chr21 43346370 43369541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2CD2 chr21 43346372 43369541 Gain and loss Pancreatic cancer SNP array 17952125 C2CD2 chr21 43349501 43353000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2CD2 chr2 143351537 143516309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143351537 143516309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 43353001 43454000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2CD2,ZNF295,ZNF295-AS1 chr21 4336993 43346370 Copy number Autism exome sequencing 22495311 ABCC13,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf15,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,C21orf88,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,CRYZL1,CXADR,CYYR1,D21S2088E,DNAJC28,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSPA13,HUNK,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00189,LINC00307,LINC00308,LINC00310,LINC00314,LINC00317,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NRIP1,OLIG1,OLIG2,PCP4,PIGP,PLAC4,POTED,PRDM15,PSMG1,RBM11,RCAN1,RIPK4,RNU6-67,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIM2,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TEKT4P2,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TPTE,TTC3,URB1,USP16,USP25,WRB chr21 43386136 43400703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 43386136 43400757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 43386136 43400757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 43407140 43419871 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF295 chr21 43408513 43408888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF295 chr2 143439085 143445131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 43451783 43478794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 43454001 43620000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCG1,C21orf128,UMODL1 chr21 43462210 43465982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 43462210 43465982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 43462210 43465982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 43465401 43541300 Copy number Normal ReadDepth: A Parallel R Package 21305028 C21orf128,UMODL1 chr2 143468951 143633606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 43469534 43469628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 143479739 143479830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143492667 143492726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 143534925 144204005 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARHGAP15,KYNU chr21 43541301 46944323 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCG1,ADARB1,AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,FAM207A,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LINC00313,LINC00319,LOC284837,LOC642852,LRRC3,LRRC3-AS1,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,POFUT2,PTTG1IP,PWP2,RRP1,RRP1B,RSPH1,SIK1,SLC19A1,SLC37A1,SSR4P1,SUMO3,TFF1,TFF2,TFF3,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,UMODL1,WDR4 chr21 43543752 43577778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UMODL1 chr21 43545397 43545486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UMODL1 chr2 143564541 143564607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143565401 144242387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP15,KYNU chr2 143565401 144242387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP15,KYNU chr2 143565551 143565621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143566948 143567016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143568206 143568271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143570598 143570668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143570672 143570727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143570728 143570796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143572455 143572521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143572868 143572935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 143574812 143574880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 43576089 44539264 LOH Normal High-resolution SNP genotyping 21211785 ABCG1,CBS,NDUFV3,PDE9A,PKNOX1,RSPH1,SLC37A1,TFF1,TFF2,TFF3,TMPRSS3,U2AF1,UBASH3A,WDR4 chr21 43579701 43583100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr21 43598604 43598684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43611227 43611327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 143612349 143612449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43620001 43626000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCG1 chr21 43626001 43753500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCG1,TFF3 chr2 143645595 143677020 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KYNU chr21 43645653 43663556 Gain Normal 244K array 17666407 ABCG1 chr21 43647004 43661107 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ABCG1 chr21 43647101 43662570 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCG1 chr21 43647101 43662570 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCG1 chr21 43652457 43655716 Gain Normal Birdsuite, version 1.5.2 22087296 ABCG1 chr2 14365344 14365447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 43658828 43671436 Gain and loss Pancreatic cancer SNP array 17952125 ABCG1 chr21 43658830 43671436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCG1 chr21 43658830 43671436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCG1 chr21 43662648 43662914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCG1 chr2 143681803 143681869 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143682532 143682792 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143682813 143682883 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143684210 143684278 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143685468 143685533 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143687860 143687930 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143687934 143687989 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143687990 143688058 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143689717 143689783 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143690130 143690197 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr2 143692074 143692142 Gain and loss Pancreatic cancer SNP array 17952125 KYNU chr21 43694332 43698210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCG1 chr21 43694332 43698210 Gain and loss Pancreatic cancer SNP array 17952125 ABCG1 chr21 43694332 43698210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCG1 chr21 43701285 43716936 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 ABCG1 chr21 43706402 43722531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCG1 chr21 43706402 43722531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCG1 chr21 43715908 43722442 Gain and loss Pancreatic cancer SNP array 17952125 ABCG1 chr2 143720695 144359647 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP15,KYNU chr21 43722755 46464419 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,CBS,CRYAA,CSTB,DNMT3L,FAM207A,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LINC00313,LINC00319,LOC284837,LRRC3,LRRC3-AS1,NDUFV3,PDE9A,PDXK,PFKL,PKNOX1,PTTG1IP,PWP2,RRP1,RRP1B,RSPH1,SIK1,SLC37A1,SUMO3,TFF1,TFF2,TFF3,TMPRSS3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBASH3A,UBE2G2,WDR4 chr2 143732771 143732846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KYNU chr2 143733881 143733971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KYNU chr21 43758803 43758897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43773499 43903802 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 RSPH1,TFF1,TMPRSS3,UBASH3A chr21 43773501 43903802 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RSPH1,TFF1,TMPRSS3,UBASH3A chr21 43773501 43903802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSPH1,TFF1,TMPRSS3,UBASH3A chr21 43773501 43903802 Gain and loss Pancreatic cancer SNP array 17952125 RSPH1,TFF1,TMPRSS3,UBASH3A chr21 43773501 43903802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSPH1,TFF1,TMPRSS3,UBASH3A chr21 43782998 43783054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TFF1 chr21 43791768 43837532 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMPRSS3,UBASH3A chr21 43794624 43797920 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TMPRSS3 chr21 43794765 43797240 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 TMPRSS3 chr21 43794765 43797240 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TMPRSS3 chr21 43794765 43797240 Loss Normal Birdsuite, version 1.5.2 22087296 TMPRSS3 chr21 43794786 43797922 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 TMPRSS3 chr21 43794793 43797728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMPRSS3 chr21 43795538 43795886 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS3 chr21 43795538 43795886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS3 chr21 43809498 43809957 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMPRSS3 chr21 43809548 43809928 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS3 chr21 43809548 43809928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS3 chr21 43826196 43827696 Gain and loss Pancreatic cancer SNP array 17952125 UBASH3A chr2 143840516 143849123 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 43881928 43881978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 43903855 43937755 Gain and loss Pancreatic cancer SNP array 17952125 RSPH1,SLC37A1 chr21 43903860 43940388 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RSPH1,SLC37A1 chr21 43903860 43940388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSPH1,SLC37A1 chr21 43903860 43940388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSPH1,SLC37A1 chr2 143931452 143931552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP15 chr2 143945301 143945401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP15 chr21 43947481 43947564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC37A1 chr21 43960001 44080500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDE9A,SLC37A1 chr21 43963403 44006616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC37A1 chr21 43963403 44006616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC37A1 chr21 43963406 44006608 Gain and loss Pancreatic cancer SNP array 17952125 SLC37A1 chr21 43978371 43983167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC37A1 chr21 43978371 43983167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC37A1 chr21 43979648 43991681 Gain Normal 244K array 17666407 SLC37A1 chr21 43981176 43981276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC37A1 chr2 14398753 14398834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 43993840 44891970 Loss Normal 244K array 17666407 CBS,CRYAA,LINC00313,LINC00319,NDUFV3,PDE9A,PKNOX1,SIK1,SLC37A1,U2AF1,WDR4 chr21 43999157 44011961 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 SLC37A1 chr2 1 4400000 Duplication Schizophrenia Affymetrix GeneChip 250K SNP array 18940311 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 1 4400000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 144000144 144000465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGAP15 chr21 44000280 44000363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC37A1 chr2 144008038 144008138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP15 chr2 144009573 144009673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP15 chr21 44018260 44020687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44018260 44020687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44018260 44020687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44033822 44049602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44033822 44049602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44033859 44049585 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44036529 44036624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 144048377 144048477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP15 chr21 44050114 44056876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44050114 44056876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44050114 44056876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44062480 44064568 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 44080501 44164500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDE9A chr21 44081762 44094899 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 PDE9A chr21 44092102 44121587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE9A chr21 44100199 44100651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE9A chr21 44109544 44228980 Gain and loss Pancreatic cancer SNP array 17952125 PDE9A chr21 44109544 44231903 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PDE9A chr21 44109544 44231903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE9A chr21 44109544 44231903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE9A chr2 144117581 144142356 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP15 chr2 144138781 144138875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP15 chr21 44164104 44164209 Gain and loss Pancreatic cancer SNP array 17952125 PDE9A chr21 44164104 44164210 Gain and loss Pancreatic cancer SNP array 17952125 PDE9A chr21 44164104 44164210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE9A chr21 44164501 44183000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDE9A chr2 1 44177588 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABCG5,ABCG8,ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf70,C2orf71,C2orf91,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,COX7A2L,CPSF3,CRIM1,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FEZ2,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC375196,LOC388942,LOC400940,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR558,MORN2,MPV17,MRPL33,MSGN1,MTA3,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OXER1,PDIA6,PFN4,PKDCC,PLB1,PLEKHH2,POMC,PPM1G,PPP1CB,PQLC3,PREB,PRKD3,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOS1,SOX11,SPAST,SPDYA,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM178A,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC27,TTC32,UBXN2A,UCN,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr21 44183001 44184500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDE9A chr21 44184501 44247000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDE9A chr21 44188678 44230843 Gain and loss Pancreatic cancer SNP array 17952125 PDE9A chr21 44203203 44203288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 14422305 14422431 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 44240631 44240713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44240631 44240713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44256634 44350852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDUFV3,WDR4 chr21 44256634 44350852 Gain and loss Pancreatic cancer SNP array 17952125 NDUFV3,WDR4 chr21 44256634 44350852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDUFV3,WDR4 chr21 44261046 44261146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44269622 44269672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR4 chr2 144271348 144271448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP15 chr21 44290656 44291350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR4 chr21 44323591 46865905 Amplification Breast cancer FISH 17142309 ADARB1,AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,CBS,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CSTB,DNMT3L,FAM207A,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LINC00313,LINC00319,LOC284837,LOC642852,LRRC3,LRRC3-AS1,NDUFV3,PDXK,PFKL,PKNOX1,POFUT2,PTTG1IP,PWP2,RRP1,RRP1B,SIK1,SSR4P1,SUMO3,TRAPPC10,TRPM2,TSPEAR,U2AF1,UBE2G2 chr21 44351636 44375490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44351636 44375490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44351636 44375490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44357501 44528500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CBS,PKNOX1,U2AF1 chr21 44362976 44363076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 144371298 144371399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP15 chr21 44377922 44390033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44377922 44390033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44377924 44389259 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 144378572 144378672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP15 chr21 44407623 44407677 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PKNOX1 chr21 44407644 44407698 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKNOX1 chr21 44412246 44418008 Gain and loss Pancreatic cancer SNP array 17952125 PKNOX1 chr2 144413578 144416789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP15 chr2 144413578 144416789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP15 chr2 144419791 144806499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP15,GTDC1 chr2 144419791 144806499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP15,GTDC1 chr21 44433424 44441413 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 PKNOX1 chr21 44434061 44445144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKNOX1 chr21 44441701 44446700 Deletion Glioma mate-paired sequence 20126413 PKNOX1 chr21 44443385 44445461 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PKNOX1 chr21 44443598 44445117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKNOX1 chr2 144448275 144464041 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP15 chr21 44459776 44459880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 44461301 44461401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44467302 44485277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBS chr21 44467302 44485277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBS chr21 44467313 44485249 Gain and loss Pancreatic cancer SNP array 17952125 CBS chr21 44477492 44477564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBS chr2 14448743 14449062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 144488560 144488659 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP15 chr2 144488562 144488659 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP15 chr21 44490651 44506527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBS chr21 44490651 44506527 Gain and loss Pancreatic cancer SNP array 17952125 CBS chr21 44490651 44506527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBS chr21 44528501 44580500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 44530191 44542473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44530191 44542530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44530191 44542530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 144537053 144828640 Gain and loss Pancreatic cancer SNP array 17952125 GTDC1 chr21 44539264 44557419 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr21 44544358 44571683 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44544358 44571687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44544358 44571687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 144561763 144561913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44573255 44583704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44574201 44583713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 144574911 144575011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44574984 44589646 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 CRYAA chr21 44575542 44576058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44575547 44575971 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44580501 44644000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRYAA chr2 144580839 144580939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 144589183 144589283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44592902 45728550 LOH Normal High-resolution SNP genotyping 21211785 AGPAT3,AIRE,C21orf33,CRYAA,CSTB,DNMT3L,HSF2BP,ICOSLG,LINC00313,LINC00319,LOC284837,PDXK,PFKL,PWP2,RRP1,RRP1B,SIK1,TRAPPC10 chr21 44594474 44687392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44594474 44687392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44597567 44687392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44623529 44638958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 144632926 145188943 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 GTDC1,ZEB2 chr21 44644001 44647500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 44647501 44661000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 144653480 144653579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44661001 44663500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 44663501 44712500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 44674714 44675039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 44699797 44703158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44699821 44703158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44699821 44703158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 144700000 148400000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 DKFZp686O1327,GTDC1,PABPC1P2,ZEB2,ZEB2-AS1 chr2 144700000 148400000 Copy number Non-syndromic sensorineural hearing loss multiplex ligation-dependent probe amplification 20456320 DKFZp686O1327,GTDC1,PABPC1P2,ZEB2,ZEB2-AS1 chr21 44700000 45090000 Loss Acute lymphoblastic leukemia - 21339820 HSF2BP,LINC00313,LINC00319,RRP1B,SIK1 chr21 44704242 44706511 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 144706094 164363469 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACVR1,ACVR1C,ACVR2A,ARL5A,ARL6IP6,BAZ2B,CACNB4,CCDC148,CCDC148-AS1,CD302,CYTIP,DAPL1,DKFZp686O1327,DPP4,EPC2,ERMN,FAP,FMNL2,GALNT13,GALNT5,GCA,GCG,GPD2,GTDC1,IFIH1,ITGB6,KCNH7,KCNJ3,KIF5C,LOC100144595,LY75,LY75-CD302,LYPD6,LYPD6B,MARCH7,MBD5,MIR4773-1,MIR4773-2,MIR4785,MMADHC,NEB,NMI,NR4A2,ORC4,PABPC1P2,PKP4,PLA2R1,PRPF40A,PSMD14,RBM43,RBMS1,RIF1,RND3,RPRM,SLC4A10,STAM2,TANC1,TANK,TBR1,TNFAIP6,UPP2,WDSUB1,ZEB2,ZEB2-AS1 chr21 44714240 44716827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44717141 44717207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44717141 44717207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44717206 44718050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44718034 44719408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44719409 44719478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44719409 44719478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44721501 44728000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 44727456 44727491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44729955 44734850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 44742205 44955923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSF2BP,LINC00313,LINC00319,SIK1 chr21 44742205 44955923 Gain and loss Pancreatic cancer SNP array 17952125 HSF2BP,LINC00313,LINC00319,SIK1 chr21 44742205 44955923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSF2BP,LINC00313,LINC00319,SIK1 chr21 44743001 44747000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 44747001 44767000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 44761526 44763067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44761526 44763067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44761526 44765140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 144764992 144765092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTDC1 chr21 44766222 44766311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44767001 44845000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SIK1 chr2 1447723 1481059 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TPO chr21 44778436 44778500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44783292 44784506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44783292 44784506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44794668 44795816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44794668 44795816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 144795429 145879978 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DKFZp686O1327,GTDC1,ZEB2,ZEB2-AS1 chr21 44802101 44803071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44802101 44803071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44802433 44861154 Gain and loss Pancreatic cancer SNP array 17952125 SIK1 chr21 44802769 46944323 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ADARB1,AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,COL18A1,COL18A1-AS1,COL18A1-AS2,CSTB,DNMT3L,FAM207A,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LINC00313,LINC00319,LOC284837,LOC642852,LRRC3,LRRC3-AS1,PDXK,PFKL,POFUT2,PTTG1IP,PWP2,RRP1,RRP1B,SIK1,SLC19A1,SSR4P1,SUMO3,TRAPPC10,TRPM2,TSPEAR,UBE2G2 chr21 44802769 46944323 Copy number gain Normal High-resolution SNP genotyping 21211785 ADARB1,AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,COL18A1,COL18A1-AS1,COL18A1-AS2,CSTB,DNMT3L,FAM207A,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LINC00313,LINC00319,LOC284837,LOC642852,LRRC3,LRRC3-AS1,PDXK,PFKL,POFUT2,PTTG1IP,PWP2,RRP1,RRP1B,SIK1,SLC19A1,SSR4P1,SUMO3,TRAPPC10,TRPM2,TSPEAR,UBE2G2 chr21 44809021 44809121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 44818034 44819676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44818034 44819676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44818127 44819269 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44823760 44824909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44823760 44824909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44835577 44836814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIK1 chr21 44844925 44846519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIK1 chr21 44844925 44846519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIK1 chr21 44845001 44848000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SIK1 chr21 44848001 44871000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00319 chr21 44856424 44857299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44856424 44857299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44856424 44857299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 144862053 144994386 Copy number Autism exome sequencing 22495311 GTDC1 chr2 144862055 144994386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTDC1 chr2 144862055 144994386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTDC1 chr21 44871001 44874000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00319 chr21 44871517 44872395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00319 chr21 44871517 44872395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00319 chr21 44874001 44946500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00313 chr21 44881701 44882798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00313 chr21 44881701 44882798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00313 chr21 44882417 44902615 Gain and loss Pancreatic cancer SNP array 17952125 LINC00313 chr21 44890759 44891995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00313 chr21 44890759 44891995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00313 chr21 44898558 44899004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44898558 44899004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44902277 44902686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44902277 44902686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44910791 44911231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44910791 44911231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44910791 44911231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44920002 44942387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44920002 44942387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44920213 44922431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44925919 44926506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44925919 44926506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 144937502 144938051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTDC1 chr2 144939233 146825158 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DKFZp686O1327,GTDC1,ZEB2,ZEB2-AS1 chr21 44941770 44942150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 44946501 44957000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSF2BP chr21 44946564 44947134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 44957001 45002500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSF2BP chr2 144958712 144958810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTDC1 chr21 44959556 46167349 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1164K arrays 21546498 AGPAT3,AIRE,C21orf2,C21orf33,C21orf90,CSTB,DNMT3L,HSF2BP,ICOSLG,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LOC284837,LRRC3,LRRC3-AS1,PDXK,PFKL,PWP2,RRP1,RRP1B,TRAPPC10,TRPM2,TSPEAR chr2 144975246 144975346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTDC1 chr21 44977731 44977796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HSF2BP chr2 144979317 145111648 Gain and loss Pancreatic cancer SNP array 17952125 GTDC1 chr2 144982101 144982154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTDC1 chr21 44996958 46178935 LOH Normal High-resolution SNP genotyping 21211785 AGPAT3,AIRE,C21orf2,C21orf33,C21orf90,CSTB,DNMT3L,HSF2BP,ICOSLG,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LOC284837,LRRC3,LRRC3-AS1,PDXK,PFKL,PWP2,RRP1,RRP1B,TRAPPC10,TRPM2,TSPEAR chr21 45002501 45011500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSF2BP chr21 45003713 45003767 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 HSF2BP chr21 45008015 45008585 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HSF2BP chr21 45011501 45127000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSF2BP,RRP1B chr21 45013384 45046166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSF2BP chr21 45013384 45046166 Gain and loss Pancreatic cancer SNP array 17952125 HSF2BP chr21 45013384 45046166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSF2BP chr2 145014976 145015076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTDC1 chr21 45021006 45021106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSF2BP chr2 145036818 145036918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTDC1 chr2 145038814 145038909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTDC1 chr2 145041967 145042277 Gain and loss Pancreatic cancer SNP array 17952125 GTDC1 chr21 45049960 45062472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSF2BP chr21 45049960 45062472 Gain and loss Pancreatic cancer SNP array 17952125 HSF2BP chr21 45049960 45062472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSF2BP chr2 145054764 145055313 Gain and loss Pancreatic cancer SNP array 17952125 GTDC1 chr21 45055295 45084879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSF2BP,RRP1B chr21 45077643 46681189 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADARB1,AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,CSTB,DNMT3L,FAM207A,HSF2BP,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LOC284837,LRRC3,LRRC3-AS1,PDXK,PFKL,PTTG1IP,PWP2,RRP1,RRP1B,SSR4P1,SUMO3,TRAPPC10,TRPM2,TSPEAR,UBE2G2 chr21 45090000 46910000 Gain Acute lymphoblastic leukemia - 21339820 ADARB1,AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,COL18A1,COL18A1-AS1,COL18A1-AS2,CSTB,DNMT3L,FAM207A,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LOC284837,LOC642852,LRRC3,LRRC3-AS1,PDXK,PFKL,POFUT2,PTTG1IP,PWP2,RRP1,RRP1B,SSR4P1,SUMO3,TRAPPC10,TRPM2,TSPEAR,UBE2G2 chr21 45093928 45118169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RRP1B chr21 45093928 45118169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRP1B chr21 45093941 45118169 Gain and loss Pancreatic cancer SNP array 17952125 RRP1B chr21 45097000 46944323 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ADARB1,AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,COL18A1,COL18A1-AS1,COL18A1-AS2,CSTB,DNMT3L,FAM207A,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LOC284837,LOC642852,LRRC3,LRRC3-AS1,PDXK,PFKL,POFUT2,PTTG1IP,PWP2,RRP1,RRP1B,SLC19A1,SSR4P1,SUMO3,TRAPPC10,TRPM2,TSPEAR,UBE2G2 chr21 45106867 45106965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RRP1B chr21 45112000 46015000 Amplification Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AGPAT3,AIRE,C21orf2,C21orf33,C21orf90,CSTB,DNMT3L,ICOSLG,KRTAP10-1,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,LOC284837,LRRC3,LRRC3-AS1,PDXK,PFKL,PWP2,RRP1,RRP1B,TRAPPC10,TRPM2,TSPEAR chr21 45112000 46015000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AGPAT3,AIRE,C21orf2,C21orf33,C21orf90,CSTB,DNMT3L,ICOSLG,KRTAP10-1,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,LOC284837,LRRC3,LRRC3-AS1,PDXK,PFKL,PWP2,RRP1,RRP1B,TRAPPC10,TRPM2,TSPEAR chr21 45112000 46015000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 AGPAT3,AIRE,C21orf2,C21orf33,C21orf90,CSTB,DNMT3L,ICOSLG,KRTAP10-1,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,LOC284837,LRRC3,LRRC3-AS1,PDXK,PFKL,PWP2,RRP1,RRP1B,TRAPPC10,TRPM2,TSPEAR chr21 45127001 45287500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGPAT3,CSTB,LOC284837,PDXK,RRP1 chr2 145129414 145129514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45130296 45173181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDXK chr21 45130296 45173181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDXK chr21 45130314 45173181 Gain and loss Pancreatic cancer SNP array 17952125 PDXK chr21 45157148 45157497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDXK chr21 45177157 45184256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDXK chr21 45177157 45184256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDXK chr21 45177617 45184256 Gain and loss Pancreatic cancer SNP array 17952125 PDXK chr21 45184355 45221332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSTB,RRP1 chr21 45184355 45221332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSTB,RRP1 chr21 45184374 45221315 Gain and loss Pancreatic cancer SNP array 17952125 CSTB,RRP1 chr21 45184382 45221316 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CSTB,RRP1 chr21 45196222 45196538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CSTB chr2 145196887 145196987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZEB2 chr21 45198163 45199064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 45203669 45203769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45215424 45215484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RRP1 chr21 45226318 45226771 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC284837 chr21 45235615 45235615 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 145240203 145240301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZEB2 chr21 45267604 45267656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 45272409 45273088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 45272476 45273119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 45317224 45317355 Gain and loss Pancreatic cancer SNP array 17952125 AGPAT3 chr21 45318196 45470903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGPAT3,TRAPPC10 chr21 45318196 45470903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGPAT3,TRAPPC10 chr21 45318943 45470902 Gain and loss Pancreatic cancer SNP array 17952125 AGPAT3,TRAPPC10 chr21 45320843 45361057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGPAT3 chr21 45330407 45373040 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 AGPAT3 chr21 45332927 45439768 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AGPAT3,TRAPPC10 chr21 45336024 45339921 Gain and loss Pancreatic cancer SNP array 17952125 AGPAT3 chr21 45345156 45359301 Gain and loss Pancreatic cancer SNP array 17952125 AGPAT3 chr2 145346752 145346913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45373039 46844296 Gain small cell lung cancer Real-time Quantitative PCR 17426248 ADARB1,AGPAT3,AIRE,C21orf2,C21orf33,C21orf67,C21orf90,COL18A1,COL18A1-AS1,COL18A1-AS2,DNMT3L,FAM207A,ICOSLG,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LOC642852,LRRC3,LRRC3-AS1,PFKL,POFUT2,PTTG1IP,PWP2,SSR4P1,SUMO3,TRAPPC10,TRPM2,TSPEAR,UBE2G2 chr2 145379201 145379301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 145385582 145385647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45396611 45396664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGPAT3 chr2 145450382 145450482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686O1327 chr2 145473692 145473788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686O1327 chr21 45478695 45503073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAPPC10 chr2 145482757 145482857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686O1327 chr21 45488535 45488733 Gain and loss Pancreatic cancer SNP array 17952125 TRAPPC10 chr21 45493645 45862760 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 AIRE,C21orf2,C21orf33,DNMT3L,ICOSLG,PFKL,PWP2,TRAPPC10,TRPM2 chr21 45496001 45652500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C21orf33,ICOSLG,PWP2,TRAPPC10 chr21 45502890 45502991 Gain and loss Pancreatic cancer SNP array 17952125 TRAPPC10 chr21 45508272 45532235 Gain and loss Pancreatic cancer SNP array 17952125 PWP2,TRAPPC10 chr21 45508272 45532239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PWP2,TRAPPC10 chr21 45508272 45532239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PWP2,TRAPPC10 chr21 45523797 45860387 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AIRE,C21orf2,C21orf33,DNMT3L,ICOSLG,PFKL,PWP2,TRAPPC10,TRPM2 chr2 145532179 145532248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686O1327 chr21 45532394 45536081 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 PWP2 chr21 45532395 45536081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PWP2 chr21 45532395 45536081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PWP2 chr21 45538480 45538977 Gain and loss Pancreatic cancer SNP array 17952125 PWP2 chr21 45544588 45549600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PWP2 chr21 45544588 45549600 Gain and loss Pancreatic cancer SNP array 17952125 PWP2 chr21 45544588 45549600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PWP2 chr21 45550717 45550817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PWP2 chr21 45564447 45637413 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C21orf33 chr21 45574948 45575037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 45580292 45580347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45584582 45584801 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 NOT_FOUND chr21 45588654 45596209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 45593807 45808641 Deletion Down syndrome Fluorescent in situ hybridization 21154855 AIRE,C21orf2,DNMT3L,ICOSLG,PFKL,TRPM2 chr21 45600520 45604118 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr21 45620362 45620447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 45620534 45620725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 45633443 45633443 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr21 45638243 45638350 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 14564029 14564118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45649480 45758062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AIRE,C21orf2,DNMT3L,ICOSLG,PFKL chr21 45649480 45758062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIRE,C21orf2,DNMT3L,ICOSLG,PFKL chr21 45649485 45758061 Gain and loss Pancreatic cancer SNP array 17952125 AIRE,C21orf2,DNMT3L,ICOSLG,PFKL chr21 45652501 45803000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AIRE,C21orf2,DNMT3L,ICOSLG,PFKL,TRPM2 chr21 45662318 45662418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45664059 45669413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT3L chr21 45664059 45669413 Gain and loss Pancreatic cancer SNP array 17952125 DNMT3L chr21 45664059 45669413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT3L chr2 145678186 145678286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686O1327 chr21 45715269 45715477 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AIRE chr21 45730552 45730827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PFKL chr2 145733091 145733191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686O1327 chr21 45740677 45786813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C21orf2,PFKL,TRPM2 chr21 45740677 45786813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C21orf2,PFKL,TRPM2 chr21 45742542 45788753 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 C21orf2,PFKL,TRPM2 chr2 145743446 145743546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686O1327 chr2 145748786 146041508 Copy number Lung cancer paired-end sequencing 18438408 DKFZp686O1327 chr21 45755294 45755351 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C21orf2 chr21 45759057 45786779 Gain and loss Pancreatic cancer SNP array 17952125 C21orf2,TRPM2 chr2 145759759 145759859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKFZp686O1327 chr21 45760610 45783718 Copy number loss Normal High-resolution SNP genotyping 21211785 TRPM2 chr21 45771963 45772094 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 45784055 45817158 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRPM2 chr21 45797938 45797998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPM2 chr2 145811271 145812101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DKFZp686O1327 chr21 45819001 45826000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRPM2 chr21 45826001 45888000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRC3,LRRC3-AS1,TRPM2 chr21 45830022 46921385 Loss Developmental delay affymetrix genechip 500K/SNP 6.81 array 21147756 ADARB1,C21orf67,C21orf90,COL18A1,COL18A1-AS1,COL18A1-AS2,FAM207A,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LOC642852,LRRC3,LRRC3-AS1,POFUT2,PTTG1IP,SSR4P1,SUMO3,TRPM2,TSPEAR,UBE2G2 chr2 1458501 1827000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYT1L,PXDN,TPO chr2 145854547 146825158 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 145856568 145856668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45860387 46634544 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADARB1,C21orf67,C21orf90,FAM207A,ITGB2,ITGB2-AS1,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,LINC00162,LINC00163,LRRC3,LRRC3-AS1,PTTG1IP,SSR4P1,SUMO3,TRPM2,TSPEAR,UBE2G2 chr21 45869515 45869515 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr21 45888036 46186796 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C21orf90,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,TSPEAR chr21 45888036 46186796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C21orf90,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,TSPEAR chr21 45888036 46186796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C21orf90,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,TSPEAR chr21 45916232 45916313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 45919335 45928378 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 TSPEAR chr2 145928708 145929363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 45930155 45930223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPEAR chr21 45957636 46066684 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,TSPEAR chr21 45992194 45992284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPEAR chr21 45996485 45996585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPEAR chr21 46007993 46014433 Gain and loss Pancreatic cancer SNP array 17952125 KRTAP10-6,TSPEAR chr2 146013818 146013918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 146026628 146026728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 146041780 146041880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46047835 46050277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KRTAP10-9,TSPEAR chr2 146056384 241734676 Copy number Lung cancer paired-end sequencing 18438408 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACSL3,ACVR1,ACVR1C,ACVR2A,ADAM23,AGAP1,AGFG1,AGPS,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATF2,ATG16L1,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCS1L,BMPR2,BOLL,BZW1,C2orf47,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCL20,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFLAR,CFLAR-AS1,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CIR1,CLK1,CNPPD1,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CYBRD1,CYP20A1,CYP27A1,CYTIP,DAPL1,DCAF17,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP4,DUSP19,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPC2,EPHA4,ERBB4,ERMN,ESPNL,EVX2,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FAP,FARSB,FASTKD1,FASTKD2,FBXO36,FEV,FIGN,FKBP7,FLJ43879,FMNL2,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCG,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GORASP2,GPBAR1,GPC1,GPD2,GPR1,GPR155,GPR35,GPR55,GRB14,GTF3C3,GULP1,HAT1,HDAC4,HECW2,HES6,HIBCH,HJURP,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,KANSL1L,KBTBD10,KCNE4,KCNH7,KCNJ13,KCNJ3,KCTD18,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100130691,LOC100144595,LOC100286922,LOC100505695,LOC100506124,LOC100506134,LOC100507140,LOC100507443,LOC100861402,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC285084,LOC348761,LOC375295,LOC440925,LOC643387,LOC646736,LRP2,LRRFIP1,LY75,LY75-CD302,LYPD6,LYPD6B,MAP2,MARCH4,MARCH7,MARS2,MBD5,MDH1B,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MIR933,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMUR1,NOP58,NOSTRIN,NPPC,NR4A2,NRP2,NUP35,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PAX3,PCGEM1,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIG,PPIL3,PPP1R1C,PRKAG3,PRKRA,PRLH,PRPF40A,PRR21,PRSS56,PSMD1,PSMD14,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,RFTN2,RHBDD1,RIF1,RND3,RNF25,RNPEPL1,RPE,RPL37A,RPRM,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SDPR,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC25A12,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SMARCAL1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPP2,SSB,SSFA2,STAM2,STAT1,STAT4,STK11IP,STK16,STK17B,STK36,STK39,STRADB,SUMO1,TANC1,TANK,TBR1,TFPI,TIGD1,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTC21B,TTC30A,TTC30B,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,UPP2,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,XIRP2,XRCC5,ZAK,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr21 46072303 46080761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KRTAP12-3,KRTAP12-4,TSPEAR chr21 46072303 46080761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KRTAP12-3,KRTAP12-4,TSPEAR chr21 46094302 46186796 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KRTAP10-12,KRTAP12-1,TSPEAR chr2 146099692 146099772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46103501 46360000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C21orf67,FAM207A,ITGB2,ITGB2-AS1,KRTAP10-12,PTTG1IP,SUMO3,TSPEAR,UBE2G2 chr21 46106875 46482213 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1168K arrays 21546498 C21orf67,FAM207A,ITGB2,ITGB2-AS1,KRTAP10-12,LINC00162,LINC00163,PTTG1IP,SUMO3,TSPEAR,UBE2G2 chr21 46129562 46129662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSPEAR chr21 46140636 46186795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 46142629 46142758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 46146596 46146655 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 1461509 1461645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPO chr2 146158557 146158651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46162572 46163279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 46167349 46637685 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1166K arrays 21546498 ADARB1,C21orf67,FAM207A,ITGB2,ITGB2-AS1,LINC00162,LINC00163,PTTG1IP,SSR4P1,SUMO3,UBE2G2 chr21 46167699 46176905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 46168492 46169547 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr21 46172107 46176905 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr21 46212450 46214152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBE2G2 chr21 46212484 46214618 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 UBE2G2 chr2 14621617 14627496 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 14621621 14627567 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 46226091 46249391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SUMO3 chr21 46226091 46249391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUMO3 chr21 46226096 46249390 Gain and loss Pancreatic cancer SNP array 17952125 SUMO3 chr21 46232195 46232823 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 SUMO3 chr21 46234341 46234408 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 SUMO3 chr21 46234806 46234806 Gain Congenital heart defects - 20877625 SUMO3 chr2 14623496 14627814 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 146235679 146246401 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 14623720 14627544 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr21 46246130 46270192 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 PTTG1IP chr21 46255951 46256018 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr21 46270384 46291274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTTG1IP chr21 46295824 46327738 Deletion Normal Standard GISTIC 21527027 ITGB2 chr21 46297289 46297484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 46297319 46297466 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 46316427 46316590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGB2 chr21 46316857 46944323 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADARB1,C21orf67,COL18A1,COL18A1-AS1,COL18A1-AS2,FAM207A,ITGB2,ITGB2-AS1,LINC00162,LINC00163,LOC642852,POFUT2,SLC19A1,SSR4P1 chr21 46324480 46324562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB2 chr2 146325342 147328577 Duplication Obesity Illumina SNP array 20622171 NOT_FOUND chr2 146329808 146329908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46342460 46377191 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C21orf67,FAM207A,ITGB2,ITGB2-AS1 chr21 46342461 46377189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C21orf67,FAM207A,ITGB2,ITGB2-AS1 chr21 46342461 46377189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C21orf67,FAM207A,ITGB2,ITGB2-AS1 chr21 46342470 46377189 Gain and loss Pancreatic cancer SNP array 17952125 C21orf67,FAM207A,ITGB2,ITGB2-AS1 chr21 46349738 46944323 LOH Normal High-resolution SNP genotyping 21211785 ADARB1,C21orf67,COL18A1,COL18A1-AS1,COL18A1-AS2,FAM207A,LINC00162,LINC00163,LOC642852,POFUT2,SLC19A1,SSR4P1 chr21 46358280 46944323 LOH Normal High-resolution SNP genotyping 21211785 ADARB1,C21orf67,COL18A1,COL18A1-AS1,COL18A1-AS2,FAM207A,LINC00162,LINC00163,LOC642852,POFUT2,SLC19A1,SSR4P1 chr21 46360001 46384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM207A chr21 46364478 46364478 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FAM207A chr21 46367207 46399800 Gain Congenital heart defects - 20877625 FAM207A chr21 46373142 46463667 Gain aortic dissecting aneurysms Array-CGH 22263138 FAM207A,LINC00162,LINC00163 chr21 46375182 46402997 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 FAM207A chr21 46375997 46944323 LOH Normal High-resolution SNP genotyping 21211785 ADARB1,COL18A1,COL18A1-AS1,COL18A1-AS2,FAM207A,LINC00162,LINC00163,LOC642852,POFUT2,SLC19A1,SSR4P1 chr21 46380604 46399909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM207A chr21 46380604 46399909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM207A chr21 46380605 46399909 Gain and loss Pancreatic cancer SNP array 17952125 FAM207A chr21 46384001 46465500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM207A,LINC00162,LINC00163 chr2 146389682 146389771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46395335 46944323 LOH Normal High-resolution SNP genotyping 21211785 ADARB1,COL18A1,COL18A1-AS1,COL18A1-AS2,FAM207A,LINC00162,LINC00163,LOC642852,POFUT2,SLC19A1,SSR4P1 chr21 46405490 46428801 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LINC00162,LINC00163 chr21 46405498 46428729 Gain and loss Pancreatic cancer SNP array 17952125 LINC00162,LINC00163 chr21 46405498 46428773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00162,LINC00163 chr21 46405498 46428773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00162,LINC00163 chr21 46412693 46424742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00162,LINC00163 chr21 46432793 46473119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 46432793 46473119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 46432793 46473119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 46434171 46435301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 46434207 46435262 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr21 46436819 46438101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 46442701 46473658 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 146448174 146449492 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 46465501 46682000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADARB1,SSR4P1 chr2 14646728 14668226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 46473573 46496034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADARB1,SSR4P1 chr21 46473576 46487327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 46473576 46496060 Gain and loss Pancreatic cancer SNP array 17952125 ADARB1,SSR4P1 chr21 46479475 46530639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADARB1,SSR4P1 chr21 46479475 46530639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADARB1,SSR4P1 chr21 46479476 46529664 Gain and loss Pancreatic cancer SNP array 17952125 ADARB1,SSR4P1 chr21 46481946 46483100 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 146500629 146500729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 146518594 146518694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46523056 46523109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADARB1 chr2 146525367 146595369 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146525436 146560127 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 46528129 46549293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADARB1 chr21 46530679 46542093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADARB1 chr21 46530679 46542093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADARB1 chr21 46530694 46542093 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ADARB1 chr21 46530726 46542064 Gain and loss Pancreatic cancer SNP array 17952125 ADARB1 chr21 46533425 46534402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADARB1 chr21 46533784 46565858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADARB1 chr21 46541016 46568217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADARB1 chr21 46541016 46568217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADARB1 chr21 46545474 46568213 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20842128 ADARB1 chr21 46545474 46568213 Gain and loss Pancreatic cancer SNP array 17952125 ADARB1 chr2 14655733 14660298 Loss Normal 244K array 17666407 NOT_FOUND chr2 146557910 146558010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 146558873 146559019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 146561505 146640703 Copy number Alcoholism Illumina Human Hap677W-Quad BeadChip 21790672 NOT_FOUND chr2 146561505 146640703 Copy number Normal - 21790672 NOT_FOUND chr2 146566395 146583392 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr21 46568483 46690106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADARB1,POFUT2 chr21 46568483 46690106 Gain and loss Pancreatic cancer SNP array 17952125 ADARB1,POFUT2 chr21 46568483 46690106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADARB1,POFUT2 chr21 4656864 46690110 Copy number Autism exome sequencing 22495311 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 146574827 146583392 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146575321 146595369 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146575321 146595458 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146575321 146596894 Copy number Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 146575756 146595458 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146577101 146595300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 146577698 146583392 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146577834 146595458 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146577834 146596894 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146577916 146595369 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146578285 146580874 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 146578549 146594548 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr2 146578555 146596882 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 146578556 146594275 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 146578556 146594275 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 146579068 146593582 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 146579090 146593332 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 146580862 146583392 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146580862 146594868 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 146580874 146583404 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146580874 146583404 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 146580874 146583404 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 146580874 146596724 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 146581460 146601153 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 146581460 146601153 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 146582127 146591907 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr2 146596755 176971119 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCB11,ACVR1,ACVR1C,ACVR2A,ARL5A,ARL6IP6,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,CACNB4,CCDC148,CCDC148-AS1,CCDC173,CD302,CDCA7,CERS6,CHN1,CHRNA1,CIR1,COBLL1,CSRNP3,CYBRD1,CYTIP,DAPL1,DCAF17,DHRS9,DLX1,DLX2,DPP4,DYNC1I2,EPC2,ERMN,EVX2,FAP,FASTKD1,FIGN,FMNL2,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GORASP2,GPD2,GPR155,GRB14,HAT1,HOXD12,HOXD13,IFIH1,ITGA6,ITGB6,KBTBD10,KCNH7,KCNJ3,KIAA1715,KIF5C,KLHL23,LOC100144595,LOC100505695,LOC100506124,LOC100506134,LOC100861402,LOC285084,LOC440925,LRP2,LY75,LY75-CD302,LYPD6,LYPD6B,MARCH7,MBD5,METAP1D,METTL5,METTL8,MIR4773-1,MIR4773-2,MIR4774,MIR4785,MIR933,MLK7-AS1,MMADHC,MYO3B,NEB,NMI,NOSTRIN,NR4A2,OLA1,ORC4,PABPC1P2,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PPIG,PRPF40A,PSMD14,RAPGEF4,RAPGEF4-AS1,RBM43,RBMS1,RIF1,RND3,RPRM,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SLC25A12,SLC38A11,SLC4A10,SNORA70F,SP3,SP5,SP9,SPC25,SSB,STAM2,STK39,TANC1,TANK,TBR1,TLK1,TNFAIP6,TTC21B,UBR3,UPP2,WDSUB1,WIPF1,XIRP2,ZAK chr21 46603549 46604082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADARB1 chr2 146608515 146643817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 146636847 146636947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46647689 46648384 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr21 46658799 46658870 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr21 46660550 46687453 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 POFUT2 chr2 146673318 146712498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 146676282 146714324 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 146679657 146679757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 146686043 146713101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 146687826 146716359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 146694102 146724765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 146694582 146719534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr21 46700000 46900000 Gain Acute myeloid leukemia BAC Array CGH 17237825 COL18A1,COL18A1-AS1,COL18A1-AS2,LOC642852,POFUT2 chr21 46703240 46814049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC642852,POFUT2 chr21 46703240 46814049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC642852,POFUT2 chr21 46703306 46813028 Gain and loss Pancreatic cancer SNP array 17952125 LOC642852,POFUT2 chr21 46727421 46921386 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 COL18A1,COL18A1-AS1,COL18A1-AS2 chr2 146736455 146736517 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 146736457 146736517 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 146752108 146752198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46768375 46878773 Loss Lung cancer Array CGH 21203850 COL18A1,COL18A1-AS1,COL18A1-AS2 chr21 46769959 46770063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 46769959 46770063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 46769960 46770061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 46780137 46780431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 46780137 46780433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 46780137 46780433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 46781683 46789014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 14678172 14678272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46788563 46902240 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 COL18A1,COL18A1-AS1,COL18A1-AS2 chr2 146793673 146793773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46814232 46828850 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COL18A1,COL18A1-AS2 chr21 46815743 46816087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 46833654 46833714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL18A1 chr21 46833941 46834360 Gain and loss Pancreatic cancer SNP array 17952125 COL18A1 chr21 46833941 46834360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL18A1 chr21 46842968 46849424 Gain and loss Pancreatic cancer SNP array 17952125 COL18A1,COL18A1-AS1 chr21 46842968 46849549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL18A1,COL18A1-AS1 chr21 46850222 46921385 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 COL18A1 chr2 14686039 14686138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 146862251 146862351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 46879507 46909290 Gain and loss Pancreatic cancer SNP array 17952125 COL18A1 chr21 46879955 46909291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL18A1 chr21 46879955 46909291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL18A1 chr2 14689501 14693000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 46897898 46898362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL18A1 chr21 46898162 46921373 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COL18A1 chr21 46901644 46921373 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COL18A1 chr2 14690275 14699871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 14690275 14699871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 14690292 14699871 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr21 46909188 46909223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL18A1 chr21 46931017 46931096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL18A1 chr21 46935093 46935950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC19A1 chr21 46935093 46935950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC19A1 chr2 146983874 146983974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147017201 147017291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147020800 147020924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147061731 147065027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 147117323 147117423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 47133172 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147136344 147136444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147178993 147182289 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 47213399 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147229529 147229624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 14723439 14727045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 147256464 147256564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147308506 147308606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147342736 147342836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147344850 147344909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PABPC1P2 chr2 147365175 148687085 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACVR2A chr2 147380264 147380364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 47432941 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147455085 147455179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147467679 147467779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 47498127 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147521018 147521103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 47538455 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147541885 148384979 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr21 47542674 46944323 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 chr21 47543986 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 14754962 14755054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147586597 147586666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 14758882 14758981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 47600000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCG5,ABCG8,ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EPAS1,EPCAM,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FEZ2,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR548AD,MIR558,MORN2,MPV17,MRPL33,MSGN1,MTA3,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OXER1,PDIA6,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,POMC,PPM1B,PPM1G,PPP1CB,PQLC3,PREB,PREPL,PRKCE,PRKD3,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SRBD1,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr21 47610143 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147611590 147611690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147615989 147616089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147621328 147621428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 47630856 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr21 47639575 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147657807 147663268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 47667860 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr21 47727376 46944323 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 chr2 1477556 1477620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPO chr2 147767970 147781757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 147798009 147798113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 47822296 46944323 Amplification Lymphoma Array-based comparative genomic hybridization (aCGH) 21487021 chr21 47846565 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147882380 147882486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 147914568 147914668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147915271 147915375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 14794501 14943128 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 147946171 147946281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 147957473 147957573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 147969476 147969578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 147969855 147969942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 47973432 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 147999642 147999748 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 48042023 46944323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 148058957 148718291 LOH Normal High-resolution SNP genotyping 21211785 ACVR2A,ORC4 chr2 148063435 148063543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 148081757 148081857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148086736 148086840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 148086738 148086843 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 148109613 148109713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148113408 148113508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148114830 148114930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148125844 148125918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148156880 148157345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 148163915 150272911 LOH Normal High-resolution SNP genotyping 21211785 ACVR2A,EPC2,KIF5C,LYPD6,LYPD6B,MBD5,ORC4 chr2 14817067 14817167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148283878 148283978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148292660 149558883 LOH Normal High-resolution SNP genotyping 21211785 ACVR2A,EPC2,MBD5,ORC4 chr2 148318654 148404863 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 148318654 148404863 Gain or loss Cancer - 20668451 NOT_FOUND chr2 148318654 148404863 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 148318654 148404863 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 148318654 148404863 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 148318654 148404863 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 148318655 148404863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 148318655 148404863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 1483242 1488714 Copy number Autism exome sequencing 22495311 TPO chr2 148330408 148330467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148351461 148351567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 148366939 148367039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148387614 148387714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148400000 149600000 Copy number Normal - 21701786 ACVR2A,EPC2,MBD5,ORC4 chr2 148400000 149600000 Deletion Epilepsy Oligonucleotide array CGH 19904302 ACVR2A,EPC2,MBD5,ORC4 chr2 148400000 149600000 Deletion Intellectual disability Oligonucleotide array CGH 19904302 ACVR2A,EPC2,MBD5,ORC4 chr2 148400000 149600000 Deletion Microcephaly Oligonucleotide array CGH 19904302 ACVR2A,EPC2,MBD5,ORC4 chr2 148400000 149600000 Deletion severe speech impairment Oligonucleotide array CGH 19904302 ACVR2A,EPC2,MBD5,ORC4 chr2 148400000 149600000 Microdeletion 2q23.1 microdeletion syndrome Agilent Human Genome CGH microarray 44K 18812405 ACVR2A,EPC2,MBD5,ORC4 chr2 148400000 149600000 Microdeletion Mental retardation Affymetrix 500K, 250K SNP array and 244K oligonucleotide array CGH 19809484 ACVR2A,EPC2,MBD5,ORC4 chr2 148400000 149600000 Microdeletion Mental retardation array-CGH 20152051 ACVR2A,EPC2,MBD5,ORC4 chr2 148408202 148495606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 148408202 148495606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 148434176 148434276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148436296 148519245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 148456613 148456708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148468723 148468815 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 148477011 148477172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148495050 148987512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACVR2A,MBD5,ORC4 chr2 148495050 148987512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR2A,MBD5,ORC4 chr2 148525464 148612868 Gain and loss Pancreatic cancer SNP array 17952125 ACVR2A chr2 148530634 148530696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148551825 148776531 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ACVR2A,ORC4 chr2 148563458 148563522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 14857839 14857922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 148619505 148619605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACVR2A chr2 148638610 148638710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACVR2A chr2 148646001 148647500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACVR2A chr21 4865150 14241327 Substitutions and indels small cell lung cancer array-CGH 20016488 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr2 148661256 148661356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACVR2A chr21 4869936 46944323 Copy number Lung cancer paired-end sequencing 18438408 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 148700000 149900000 Loss Mental retardation Array CGH 17847001 EPC2,KIF5C,LYPD6B,MBD5,ORC4 chr2 148700000 163700000 Gain Hodgkin's lymphoma Array CGH 18179710 ACVR1,ACVR1C,ARL5A,ARL6IP6,BAZ2B,CACNB4,CCDC148,CCDC148-AS1,CD302,CYTIP,DAPL1,DPP4,EPC2,ERMN,FAP,FMNL2,GALNT13,GALNT5,GCA,GCG,GPD2,IFIH1,ITGB6,KCNH7,KCNJ3,KIF5C,LOC100144595,LY75,LY75-CD302,LYPD6,LYPD6B,MARCH7,MBD5,MIR4773-1,MIR4773-2,MIR4785,MMADHC,NEB,NMI,NR4A2,ORC4,PKP4,PLA2R1,PRPF40A,PSMD14,RBM43,RBMS1,RIF1,RND3,RPRM,SLC4A10,STAM2,TANC1,TANK,TBR1,TNFAIP6,UPP2,WDSUB1 chr2 148700000 209000000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCB11,ABI2,ACVR1,ACVR1C,ADAM23,AGPS,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKRD44,AOX1,AOX2P,ARL5A,ARL6IP6,ASNSD1,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,C2orf88,CACNB4,CALCRL,CASP10,CASP8,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCNYL1,CD28,CD302,CDCA7,CDK15,CERKL,CERS6,CFLAR,CFLAR-AS1,CHN1,CHRNA1,CIR1,CLK1,COBLL1,COL3A1,COL5A2,COQ10B,CPO,CREB1,CRYGC,CRYGD,CSRNP3,CTLA4,CWC22,CYBRD1,CYP20A1,CYTIP,DAPL1,DCAF17,DFNB59,DHRS9,DIRC1,DLX1,DLX2,DNAH7,DNAJC10,DPP4,DUSP19,DYNC1I2,DYTN,EEF1B2,EPC2,ERMN,EVX2,FAM117B,FAM126B,FAM171B,FAP,FASTKD1,FASTKD2,FIGN,FKBP7,FMNL2,FONG,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GCSHP3,GLS,GORASP2,GPD2,GPR1,GPR155,GRB14,GTF3C3,GULP1,HAT1,HECW2,HIBCH,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,IFIH1,INO80D,INPP1,ITGA4,ITGA6,ITGAV,ITGB6,KBTBD10,KCNH7,KCNJ3,KCTD18,KIAA1715,KIF5C,KLF7,KLHL23,LOC100130452,LOC100130691,LOC100144595,LOC100505695,LOC100506124,LOC100506134,LOC100507140,LOC100507443,LOC100861402,LOC200726,LOC285084,LOC375295,LOC440925,LRP2,LY75,LY75-CD302,LYPD6,LYPD6B,MARCH7,MARS2,MBD5,MDH1B,METAP1D,METTL21A,METTL5,METTL8,MFSD6,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR2355,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3606,MIR4437,MIR4444-1,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4785,MIR548N,MIR561,MIR933,MLK7-AS1,MMADHC,MOB4,MPP4,MSTN,MTX2,MYO1B,MYO3B,NAB1,NABP1,NBEAL1,NCKAP1,NDUFB3,NDUFS1,NEB,NEUROD1,NFE2L2,NIF3L1,NMI,NOP58,NOSTRIN,NR4A2,NRP2,NUP35,OLA1,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,PARD3B,PCGEM1,PDE11A,PDE1A,PDK1,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLCL1,PLEKHA3,PLEKHM3,PMS1,PPIG,PPIL3,PPP1R1C,PRKRA,PRPF40A,PSMD14,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM45,RBMS1,RFTN2,RIF1,RND3,RPRM,SATB2,SATB2-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SDPR,SESTD1,SF3B1,SGOL2,SLC25A12,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SNORA41,SNORA70F,SNORD11,SNORD11B,SNORD51,SNORD70,SP3,SP5,SP9,SPATS2L,SPC25,SSB,SSFA2,STAM2,STAT1,STAT4,STK17B,STK39,STRADB,SUMO1,TANC1,TANK,TBR1,TFPI,TLK1,TMEFF2,TMEM194B,TMEM237,TNFAIP6,TRAK2,TTC21B,TTC30A,TTC30B,TTN,TTN-AS1,TYW5,UBE2E3,UBR3,UPP2,WDR12,WDR75,WDSUB1,WIPF1,XIRP2,ZAK,ZC3H15,ZDBF2,ZNF385B,ZNF804A,ZSWIM2 chr2 148700000 243199373 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACSL3,ACVR1,ACVR1C,ADAM23,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCL20,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFLAR,CFLAR-AS1,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CIR1,CLK1,CNPPD1,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYTIP,D2HGDH,DAPL1,DCAF17,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP4,DTYMK,DUSP19,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPC2,EPHA4,ERBB4,ERMN,ESPNL,EVX2,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBXO36,FEV,FIGN,FKBP7,FLJ43879,FMNL2,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCG,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GORASP2,GPBAR1,GPC1,GPD2,GPR1,GPR155,GPR35,GPR55,GRB14,GTF3C3,GULP1,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,KANSL1L,KBTBD10,KCNE4,KCNH7,KCNJ13,KCNJ3,KCTD18,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100130691,LOC100144595,LOC100286922,LOC100505695,LOC100506124,LOC100506134,LOC100507140,LOC100507443,LOC100861402,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC285084,LOC348761,LOC375295,LOC440925,LOC643387,LOC646736,LOC728323,LRP2,LRRFIP1,LY75,LY75-CD302,LYPD6,LYPD6B,MAP2,MARCH4,MARCH7,MARS2,MBD5,MDH1B,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MIR933,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMUR1,NOP58,NOSTRIN,NPPC,NR4A2,NRP2,NUP35,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRPF40A,PRR21,PRSS56,PSMD1,PSMD14,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,RFTN2,RHBDD1,RIF1,RND3,RNF25,RNPEPL1,RPE,RPL37A,RPRM,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC25A12,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPP2,SSB,SSFA2,STAM2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SUMO1,TANC1,TANK,TBR1,TFPI,THAP4,TIGD1,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTC21B,TTC30A,TTC30B,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,UPP2,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,XIRP2,XRCC5,ZAK,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 148734613 148734747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ORC4 chr2 148803089 148925663 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MBD5 chr2 148823567 148823656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBD5 chr2 148829876 148829969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBD5 chr2 148851889 148852009 Gain and loss Pancreatic cancer SNP array 17952125 MBD5 chr2 148881443 149078468 Gain Autism qPCR 20531469 MBD5 chr2 148886585 149066598 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MBD5 chr2 148937010 148937110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBD5 chr2 148942793 148942886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBD5 chr2 148960963 150612783 LOH Normal High-resolution SNP genotyping 21211785 EPC2,KIF5C,LYPD6,LYPD6B,MBD5,MMADHC chr2 148981206 148981306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBD5 chr2 149119035 149119225 Loss Autism 1M Ailent CGH whole-genome array 21865298 MBD5 chr2 149119038 149261600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBD5 chr2 149119038 149261600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBD5 chr2 149236074 149378870 Gain and loss Pancreatic cancer SNP array 17952125 MBD5 chr2 149246168 149246268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBD5 chr2 149299723 149299909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 149307975 149308046 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 149344063 149344420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 14934431 14934531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 149355759 149355889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 149377345 149377445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1493932 1494250 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPO chr2 1493978 1494296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPO chr2 149416985 149417169 Gain and loss Pancreatic cancer SNP array 17952125 EPC2 chr2 149416989 149417136 Gain and loss Pancreatic cancer SNP array 17952125 EPC2 chr2 149442130 149459307 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPC2 chr2 14944881 14944981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 149454869 149455102 Gain and loss Pancreatic cancer SNP array 17952125 EPC2 chr2 149461325 149461682 Gain and loss Pancreatic cancer SNP array 17952125 EPC2 chr2 149466919 149708781 Gain and loss Pancreatic cancer SNP array 17952125 EPC2,KIF5C chr2 149502042 149591519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPC2 chr2 149502042 149591519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPC2 chr2 149521137 149785369 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EPC2,KIF5C chr2 149521137 151635422 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EPC2,KIF5C,LYPD6,LYPD6B,MMADHC,RND3 chr2 149550487 149550587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 149579353 149748529 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KIF5C chr2 14958214 15064211 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 149603227 149780022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF5C chr2 149603227 149780022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF5C chr2 149627288 149652564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF5C chr2 149646395 149646494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF5C chr2 149720489 149897280 Gain and loss Pancreatic cancer SNP array 17952125 KIF5C,LYPD6B chr2 149810958 149811058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF5C chr2 149811149 149811244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF5C chr2 149851262 149851656 Gain Normal 244K array 17666407 KIF5C chr2 149852805 149852988 Loss Normal 244K array 17666407 KIF5C chr2 149855285 151097814 LOH Normal High-resolution SNP genotyping 21211785 KIF5C,LYPD6,LYPD6B,MMADHC chr2 149855910 149856004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF5C chr2 149857403 151083602 LOH Normal High-resolution SNP genotyping 21211785 KIF5C,LYPD6,LYPD6B,MMADHC chr2 149878858 149878958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF5C chr2 149892623 149892723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 149894745 150038383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LYPD6B chr2 149894745 150038383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYPD6B chr2 149917681 149917731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LYPD6B chr2 149930365 149930514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYPD6B chr2 149931762 149931862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LYPD6B chr2 149948554 149948654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LYPD6B chr2 149957962 149993274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LYPD6B chr2 149975216 149975316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LYPD6B chr2 149997 166399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 150012007 150155645 Gain and loss Pancreatic cancer SNP array 17952125 LYPD6B chr2 1500333 1500476 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPO chr2 150045946 150046025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LYPD6B chr2 150047603 150047776 Gain and loss Pancreatic cancer SNP array 17952125 LYPD6B chr2 150047674 150047775 Gain and loss Pancreatic cancer SNP array 17952125 LYPD6B chr2 150051913 150052002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LYPD6B chr2 150105031 150105131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150134399 150152486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 150134399 150152486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 150155987 150633167 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LYPD6,MMADHC chr2 150175428 150175534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 150218431 150218463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LYPD6 chr2 150251661 150269787 Gain and loss Pancreatic cancer SNP array 17952125 LYPD6 chr2 150292690 150292796 Gain and loss Pancreatic cancer SNP array 17952125 LYPD6 chr2 150300000 154600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL5A,ARL6IP6,CACNB4,FMNL2,LYPD6,MIR4773-1,MIR4773-2,MMADHC,NEB,NMI,PRPF40A,RBM43,RIF1,RND3,RPRM,STAM2,TNFAIP6 chr2 150300000 154600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL5A,ARL6IP6,CACNB4,FMNL2,LYPD6,MIR4773-1,MIR4773-2,MMADHC,NEB,NMI,PRPF40A,RBM43,RIF1,RND3,RPRM,STAM2,TNFAIP6 chr2 150300000 159600000 Deletion Mental retardation array-CGH 19156171 ACVR1,ACVR1C,ARL5A,ARL6IP6,CACNB4,CCDC148,CCDC148-AS1,CYTIP,ERMN,FMNL2,GALNT13,GALNT5,GPD2,KCNJ3,LOC100144595,LYPD6,MIR4773-1,MIR4773-2,MMADHC,NEB,NMI,NR4A2,PKP4,PRPF40A,RBM43,RIF1,RND3,RPRM,STAM2,TNFAIP6,UPP2 chr2 150332266 150423951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 150332266 150423951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 150335217 150335537 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 150451513 150451613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150467547 150467867 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 150467547 150467867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 150500000 154900000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 ARL5A,ARL6IP6,CACNB4,FMNL2,GALNT13,MIR4773-1,MIR4773-2,NEB,NMI,PRPF40A,RBM43,RIF1,RND3,RPRM,STAM2,TNFAIP6 chr2 150540230 150540625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 150544855 150544936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150573003 150573103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150594919 150595019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150644464 150644564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150646532 150741461 Gain Stenocardia MACArray Karyo 13K BAC-chips 21860640 NOT_FOUND chr2 150646532 150741461 Gain Vasospasm MACArray Karyo 13K BAC-chips 21860640 NOT_FOUND chr2 150664550 150676856 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 150707840 150721318 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 150728853 154119732 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ARL5A,ARL6IP6,CACNB4,FMNL2,MIR4773-1,MIR4773-2,NEB,NMI,PRPF40A,RBM43,RIF1,RND3,STAM2,TNFAIP6 chr2 150739383 150746495 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 150739384 150746490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 150739394 150746450 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 150739697 150745976 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 150739697 150745978 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 150739785 150739885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150764049 150764262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150764296 150764396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150779161 152542071 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4773-1,MIR4773-2,NEB,NMI,RBM43,RIF1,RND3,TNFAIP6 chr2 1507867 1518587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TPO chr2 15079944 15187008 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 15083737 15084062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 150851263 150851363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150852337 150864609 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 150862988 150863083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150870551 150870651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150902328 150915213 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 150927523 150927595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 150931866 150931966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 150997372 150997472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151018358 151018456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151032954 151052426 Copy number Lung cancer - 20668451 NOT_FOUND chr2 151032954 151052426 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 151032954 151052426 Gain or loss Cancer - 20668451 NOT_FOUND chr2 151032954 151052426 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 151032954 151052426 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 151032954 151052426 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 151032954 151052426 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 151032955 151052427 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 151032955 151052427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151032955 151052427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151044785 151044857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 151102241 151102896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 151115532 151115632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151150220 151169672 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 15120360 17242742 Gain Retinoblastoma Array-CGH 19183342 DDX1,FAM49A,MYCN,MYCNOS,NBAS chr2 151214972 151215072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151215066 151215145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1512399 1517056 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 TPO chr2 151282557 151311961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 151282785 151669718 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RND3 chr2 151324711 151344169 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 RND3 chr2 151377093 151377172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151394946 151396139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 151431773 151462572 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 151438746 151438778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151443076 151443167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151445027 151445106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1514848 1521188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TPO chr2 151493461 151497481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 151499554 151499586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151525728 151525798 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 15152787 15308457 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NBAS chr2 151551309 151595933 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 151565980 151613534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151565980 151613534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151567459 151567554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151611330 151611605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 151621071 151631721 Loss Normal 244K array 17666407 NOT_FOUND chr2 151621559 151621659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151632113 151632213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15163532 15163768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15163751 15163908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151662279 151662374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151680556 153116188 LOH Normal High-resolution SNP genotyping 21211785 ARL5A,CACNB4,MIR4773-1,MIR4773-2,NEB,NMI,RBM43,RIF1,STAM2,TNFAIP6 chr2 151749451 151749738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 151750953 151751355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 15177504 15178217 Amplification Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr2 151777873 151777962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151814156 151826623 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 151814156 151826623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151814156 151826623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151835231 151854620 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 151835231 151854664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151835231 151854664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 1518632 1520141 Gain and loss Pancreatic cancer SNP array 17952125 TPO chr2 151868215 151868617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 151922351 151944803 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 151922351 151944803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151922351 151944803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151931418 151943885 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 151936772 151937044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151952493 151971882 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 151952839 151952934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151974674 152042109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151974674 152042109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 151977259 151977359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 151978825 151978925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 520006 LOH Normal High-resolution SNP genotyping 21211785 ACP1,FAM110C,FAM150B,SH3YL1 chr2 15202006 15652964 Copy number Lung cancer paired-end sequencing 18438408 NBAS chr2 152024300 152057946 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 15202499 15205498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 152039613 152062067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 152050096 152299247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4773-1,MIR4773-2,NMI,RBM43,RIF1,TNFAIP6 chr2 152050096 152299247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4773-1,MIR4773-2,NMI,RBM43,RIF1,TNFAIP6 chr2 152051587 152051687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 152054034 152054306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 152091936 152190033 Gain and loss Pancreatic cancer SNP array 17952125 NMI,RBM43 chr2 1521305 1631829 Duplication Normal Affymetrix 6.0 microarrays 20967226 TPO chr2 152157179 152157329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 152167363 152416454 Gain and loss Pancreatic cancer SNP array 17952125 MIR4773-1,MIR4773-2,NEB,RIF1,TNFAIP6 chr2 152172012 152205186 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 152200520 152233028 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4773-1,MIR4773-2,TNFAIP6 chr2 152212685 154051646 LOH Normal High-resolution SNP genotyping 21211785 ARL5A,ARL6IP6,CACNB4,FMNL2,MIR4773-1,MIR4773-2,NEB,PRPF40A,RIF1,STAM2,TNFAIP6 chr2 152227003 152277968 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIF1,TNFAIP6 chr2 152231858 152231947 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TNFAIP6 chr2 152244200 152244300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15224483 15618905 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBAS chr2 15224483 15618905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBAS chr2 15224483 15618905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBAS chr2 152245960 152274115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIF1 chr2 152275710 152324963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIF1 chr2 152282605 152306104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIF1 chr2 152325535 152325849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RIF1 chr2 152365726 152393255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEB chr2 152365726 152393255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEB chr2 152373350 152406962 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEB chr2 152377090 152382062 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NEB chr2 152400722 153336153 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL5A,CACNB4,FMNL2,NEB,STAM2 chr2 152402389 152663771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL5A,NEB chr2 152402389 152663771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL5A,NEB chr2 15242132 15242232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 152431583 152431684 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEB chr2 152484612 152510503 Gain and loss Pancreatic cancer SNP array 17952125 NEB chr2 152506803 152507435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEB chr2 152520648 152781033 Gain and loss Pancreatic cancer SNP array 17952125 ARL5A,CACNB4,NEB chr2 15257630 15652052 Gain and loss Pancreatic cancer SNP array 17952125 NBAS chr2 15258012 18111407 Gain Glioblastoma multiforme 244K oligo array 21138945 DDX1,FAM49A,GEN1,KCNS3,MSGN1,MYCN,MYCNOS,NBAS,RAD51AP2,SMC6,VSNL1 chr2 152638607 152638707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15266405 15266490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 152683353 152740752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL5A,CACNB4 chr2 152683353 152740752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL5A,CACNB4 chr2 152684248 153469277 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL5A,CACNB4,FMNL2,STAM2 chr2 152684917 152685017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARL5A chr2 152688925 152689025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 152718362 152718462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNB4 chr2 152800615 152858014 Gain and loss Pancreatic cancer SNP array 17952125 CACNB4 chr2 152830471 152830520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNB4 chr2 152849110 152849220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNB4 chr2 15285363 15285437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 152861648 152861734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNB4 chr2 152872036 152872136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNB4 chr2 152899997 153214594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNB4,FMNL2,STAM2 chr2 152899997 153214594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNB4,FMNL2,STAM2 chr2 152904213 153639423 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARL6IP6,CACNB4,FMNL2,PRPF40A,STAM2 chr2 152913569 152913895 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNB4 chr2 152954437 152955395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNB4 chr2 152966374 152966481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 152966374 152966482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 153017491 153331854 Gain and loss Pancreatic cancer SNP array 17952125 FMNL2,STAM2 chr2 153055091 153219491 Duplication Normal Affymetrix 6.0 microarrays 20967226 FMNL2 chr2 153065045 153065145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 153071699 153072657 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 153163445 153195235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FMNL2 chr2 153167925 153169715 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 153216353 153282741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMNL2 chr2 153216353 153282741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMNL2 chr2 153237218 153282221 Copy number Gastric cancer Human cDNA microarrays 17229543 FMNL2 chr2 153248086 153248280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMNL2 chr2 153261397 153446144 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 FMNL2 chr2 153267462 153267710 Gain and loss Pancreatic cancer SNP array 17952125 FMNL2 chr2 153283373 153325669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FMNL2 chr2 153283373 153325669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FMNL2 chr2 153338328 153399483 Gain and loss Pancreatic cancer SNP array 17952125 FMNL2 chr2 153371143 153506035 Copy number loss Normal High-resolution SNP genotyping 21211785 FMNL2 chr2 153375664 153375744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMNL2 chr2 153399936 153443199 Gain and loss Pancreatic cancer SNP array 17952125 FMNL2 chr2 153414490 153414564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMNL2 chr2 153448646 153448686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMNL2 chr2 153450427 153688865 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARL6IP6,FMNL2,PRPF40A chr2 153451329 153451429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMNL2 chr2 153459804 153459891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FMNL2 chr2 153485490 153632834 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARL6IP6,FMNL2,PRPF40A chr2 153503982 153508012 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FMNL2 chr2 153504237 153507975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FMNL2 chr2 153505425 153508019 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FMNL2 chr2 153515185 153808097 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL6IP6,PRPF40A chr2 153618223 153627891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 153627940 154646176 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RPRM chr2 153701395 153912549 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 153708477 153708567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 153709886 153709986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 153723688 153724470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 153753287 183588035 Duplication Intellectual disability Array CGH 22102821 ABCB11,ACVR1,ACVR1C,AGPS,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,CCDC141,CCDC148,CCDC148-AS1,CCDC173,CD302,CDCA7,CERKL,CERS6,CHN1,CHRNA1,CIR1,COBLL1,CSRNP3,CWC22,CYBRD1,CYTIP,DAPL1,DCAF17,DFNB59,DHRS9,DLX1,DLX2,DNAJC10,DPP4,DYNC1I2,ERMN,EVX2,FAP,FASTKD1,FIGN,FKBP7,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GORASP2,GPD2,GPR155,GRB14,HAT1,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,IFIH1,ITGA4,ITGA6,ITGB6,KBTBD10,KCNH7,KCNJ3,KIAA1715,KLHL23,LOC100130691,LOC100144595,LOC100505695,LOC100506124,LOC100506134,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,LY75,LY75-CD302,MARCH7,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR1258,MIR3128,MIR4437,MIR4444-1,MIR4774,MIR4785,MIR548N,MIR933,MLK7-AS1,MTX2,MYO3B,NEUROD1,NFE2L2,NOSTRIN,NR4A2,OLA1,OSBPL6,PDE11A,PDE1A,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLEKHA3,PPIG,PPP1R1C,PRKRA,PSMD14,RAPGEF4,RAPGEF4-AS1,RBM45,RBMS1,RPRM,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SESTD1,SLC25A12,SLC38A11,SLC4A10,SNORA70F,SP3,SP5,SP9,SPC25,SSB,SSFA2,STK39,TANC1,TANK,TBR1,TLK1,TTC21B,TTC30A,TTC30B,TTN,TTN-AS1,UBE2E3,UBR3,UPP2,WDSUB1,WIPF1,XIRP2,ZAK,ZNF385B chr2 153760001 153763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 153772822 153772924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 153780181 153780281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 153898443 154029900 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 153925088 153955665 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 153935368 153935824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 154011573 154011643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 154030312 154030412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 154042098 154043568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 154042098 154043568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 154078157 155560517 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GALNT13,KCNJ3,LOC100144595,RPRM chr2 154115669 154115769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 154119938 154120252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 154128835 154128905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 154153687 154153769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 154160258 154160587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 154160564 154160659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 154160699 154160804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 154188586 154346292 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RPRM chr2 154188586 154346292 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RPRM chr2 154203186 154203398 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 154248031 154248131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 154282446 154293745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 15430779 15430879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBAS chr2 154324647 154324734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15436040 16419609 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DDX1,MYCN,MYCNOS,NBAS chr2 154367764 154367806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15437342 15438247 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NBAS chr2 154436672 155018734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT13 chr2 154436672 155018734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT13 chr2 154442994 154443092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 154446555 161523448 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ACVR1,ACVR1C,BAZ2B,CCDC148,CCDC148-AS1,CD302,CYTIP,DAPL1,ERMN,GALNT13,GALNT5,GPD2,ITGB6,KCNJ3,LOC100144595,LY75,LY75-CD302,MARCH7,MIR4785,NR4A2,PKP4,PLA2R1,RBMS1,TANC1,UPP2,WDSUB1 chr2 154553974 155135996 Gain and loss Pancreatic cancer SNP array 17952125 GALNT13 chr2 154564827 154565082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 154600000 159600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACVR1,ACVR1C,CCDC148,CCDC148-AS1,CYTIP,ERMN,GALNT13,GALNT5,GPD2,KCNJ3,LOC100144595,NR4A2,PKP4,UPP2 chr2 154600000 159600000 Copy number Normal - 21701786 ACVR1,ACVR1C,CCDC148,CCDC148-AS1,CYTIP,ERMN,GALNT13,GALNT5,GPD2,KCNJ3,LOC100144595,NR4A2,PKP4,UPP2 chr2 154600000 159600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACVR1,ACVR1C,CCDC148,CCDC148-AS1,CYTIP,ERMN,GALNT13,GALNT5,GPD2,KCNJ3,LOC100144595,NR4A2,PKP4,UPP2 chr2 154600000 180400000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 ABCB11,ACVR1,ACVR1C,AGPS,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,CCDC141,CCDC148,CCDC148-AS1,CCDC173,CD302,CDCA7,CERS6,CHN1,CHRNA1,CIR1,COBLL1,CSRNP3,CYBRD1,CYTIP,DAPL1,DCAF17,DFNB59,DHRS9,DLX1,DLX2,DPP4,DYNC1I2,ERMN,EVX2,FAP,FASTKD1,FIGN,FKBP7,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCG,GORASP2,GPD2,GPR155,GRB14,HAT1,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,IFIH1,ITGA6,ITGB6,KBTBD10,KCNH7,KCNJ3,KIAA1715,KLHL23,LOC100130691,LOC100144595,LOC100505695,LOC100506124,LOC100506134,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,LY75,LY75-CD302,MARCH7,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR3128,MIR4444-1,MIR4774,MIR4785,MIR548N,MIR933,MLK7-AS1,MTX2,MYO3B,NFE2L2,NOSTRIN,NR4A2,OLA1,OSBPL6,PDE11A,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLEKHA3,PPIG,PRKRA,PSMD14,RAPGEF4,RAPGEF4-AS1,RBM45,RBMS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SESTD1,SLC25A12,SLC38A11,SLC4A10,SNORA70F,SP3,SP5,SP9,SPC25,SSB,STK39,TANC1,TANK,TBR1,TLK1,TTC21B,TTC30A,TTC30B,TTN,TTN-AS1,UBR3,UPP2,WDSUB1,WIPF1,XIRP2,ZAK,ZNF385B chr2 154601852 154607820 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 154602001 154609000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 154672797 154672897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 154722283 154724234 Loss Normal 244K array 17666407 NOT_FOUND chr2 154752608 154752845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 154774564 154803156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNT13 chr2 154851747 154851847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 154882448 154882548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 154900000 163700000 Deletion Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ACVR1,ACVR1C,BAZ2B,CCDC148,CCDC148-AS1,CD302,CYTIP,DAPL1,DPP4,ERMN,FAP,GALNT13,GALNT5,GCA,GCG,GPD2,IFIH1,ITGB6,KCNH7,KCNJ3,LOC100144595,LY75,LY75-CD302,MARCH7,MIR4785,NR4A2,PKP4,PLA2R1,PSMD14,RBMS1,SLC4A10,TANC1,TANK,TBR1,UPP2,WDSUB1 chr2 154900000 169700000 Gain or amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 ACVR1,ACVR1C,B3GALT1,BAZ2B,CCDC148,CCDC148-AS1,CD302,CERS6,COBLL1,CSRNP3,CYTIP,DAPL1,DPP4,ERMN,FAP,FIGN,GALNT13,GALNT3,GALNT5,GCA,GCG,GPD2,GRB14,IFIH1,ITGB6,KCNH7,KCNJ3,LOC100144595,LOC100506124,LOC100506134,LOC100861402,LY75,LY75-CD302,MARCH7,MIR4774,MIR4785,NOSTRIN,NR4A2,PKP4,PLA2R1,PSMD14,RBMS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SLC4A10,SNORA70F,STK39,TANC1,TANK,TBR1,TTC21B,UPP2,WDSUB1,XIRP2 chr2 154900000 169700000 Loss Autism References 18414403 ACVR1,ACVR1C,B3GALT1,BAZ2B,CCDC148,CCDC148-AS1,CD302,CERS6,COBLL1,CSRNP3,CYTIP,DAPL1,DPP4,ERMN,FAP,FIGN,GALNT13,GALNT3,GALNT5,GCA,GCG,GPD2,GRB14,IFIH1,ITGB6,KCNH7,KCNJ3,LOC100144595,LOC100506124,LOC100506134,LOC100861402,LY75,LY75-CD302,MARCH7,MIR4774,MIR4785,NOSTRIN,NR4A2,PKP4,PLA2R1,PSMD14,RBMS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SLC4A10,SNORA70F,STK39,TANC1,TANK,TBR1,TTC21B,UPP2,WDSUB1,XIRP2 chr2 154904044 154904144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 154944277 155795855 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GALNT13,KCNJ3,LOC100144595 chr2 154968792 154968867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 155018033 155018133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 155027754 155027829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 155081995 155082850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNT13 chr2 1550926 1552027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155124339 155124430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 155154466 155154566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 155155165 155155286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT13 chr2 155155166 155155255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT13 chr2 155171278 155171378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 15519335 15519554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBAS chr2 15519538 15519754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBAS chr2 155211661 155211757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 155263339 155421260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT13,LOC100144595 chr2 155263339 155421260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT13,LOC100144595 chr2 155272428 155272517 Gain and loss Pancreatic cancer SNP array 17952125 GALNT13 chr2 155291140 155291240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT13 chr2 155348258 155348358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 155380601 155538522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155414469 155414549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 155440610 155462813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 155481599 155481699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 155505299 155505825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155527219 155538396 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 155527575 155527675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 155554240 155555907 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ3 chr2 155599425 155599740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNJ3 chr2 155615314 155615404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNJ3 chr2 155622594 155623087 Gain and loss Pancreatic cancer SNP array 17952125 KCNJ3 chr2 155654197 155654296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ3 chr2 155654197 155654299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ3 chr2 15572120 15576003 Amplification Medulloblastoma Illumina SNP arrays 21163964 NBAS chr2 155771459 155771561 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155808041 155808141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 155828536 155828600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155828697 155828769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155828771 155828839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155828847 155828914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155857573 155857673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 155876181 155876247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155876249 155876307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155876308 155876378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155895179 155895285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 155945798 155945862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155945862 155945927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155945959 155946031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155946033 155946101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155946109 155946176 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155956460 155956545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 155975001 155979000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 155993443 155993509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155993511 155993569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 155993570 155993640 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 156012441 156012547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 156050480 156050555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 156052886 156831720 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr2 156093610 156093666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 156211956 156212050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 156237112 156271478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 156260832 156431263 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr2 156262297 156424935 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 156320290 156320384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 156333500 156362438 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 156339157 156356885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 15636034 15636124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBAS chr2 156363919 157040066 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 156365004 156365104 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 156397947 156398047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 156456497 156456569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 156458529 156458613 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 156458529 156458613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 156483292 156483392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15648753 15688676 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBAS chr2 15648753 15688676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBAS chr2 156639182 158117909 LOH Normal High-resolution SNP genotyping 21211785 GALNT5,GPD2,NR4A2 chr2 15668748 15760851 Copy number Lung cancer paired-end sequencing 18438408 DDX1,NBAS chr2 156698803 157700222 LOH Normal High-resolution SNP genotyping 21211785 GPD2,NR4A2 chr2 156761199 163169595 Deletion Epilepsy aCGH 21204806 ACVR1,ACVR1C,BAZ2B,CCDC148,CCDC148-AS1,CD302,CYTIP,DAPL1,DPP4,ERMN,FAP,GALNT5,GCG,GPD2,IFIH1,ITGB6,LY75,LY75-CD302,MARCH7,MIR4785,NR4A2,PKP4,PLA2R1,PSMD14,RBMS1,SLC4A10,TANC1,TANK,TBR1,UPP2,WDSUB1 chr2 156785358 156785580 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 156786928 156787028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15682368 15721823 Gain and loss Pancreatic cancer SNP array 17952125 NBAS chr2 156852400 157270746 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NR4A2 chr2 156889194 156907106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 156889194 156907106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 156947333 156947433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 156974904 156975004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 156980623 156980801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 156986954 156987056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 15699501 16298500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DDX1,MYCN,MYCNOS,NBAS chr2 157000211 157178493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157000211 157178493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157000442 157150910 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 157006459 157014708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 157063843 157063918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 157092166 157092266 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 157104216 157104318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 157118428 157265427 Gain and loss Pancreatic cancer SNP array 17952125 NR4A2 chr2 157125208 157169711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 157138927 157139027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 157180950 157189213 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 NR4A2 chr2 15720000 16465000 Amplification Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 DDX1,MYCN,MYCNOS chr2 15720000 16465000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 DDX1,MYCN,MYCNOS chr2 157330337 157330437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPD2 chr2 157350443 157895045 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-325K arrays 21546498 GPD2 chr2 15736573 15736783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DDX1 chr2 157378691 157379967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPD2 chr2 157379456 158056876 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPD2 chr2 157387705 157392129 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPD2 chr2 157398241 157398341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPD2 chr2 157419459 157724310 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPD2 chr2 157422857 157422889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPD2 chr2 157444957 157445057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15744816 15744916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX1 chr2 15745880 15745980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX1 chr2 157459724 157460153 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 15746000 16670000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 DDX1,MYCN,MYCNOS chr2 157507450 157507773 Loss Normal 244K array 17666407 NOT_FOUND chr2 15759327 15759406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX1 chr2 157675678 160558761 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACVR1,ACVR1C,BAZ2B,CCDC148,CCDC148-AS1,CYTIP,DAPL1,ERMN,GALNT5,PKP4,TANC1,UPP2,WDSUB1 chr2 15776146 16020831 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 157775264 157776245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157775567 169938948 Loss Developmental delay affymetrix genechip 500K/SNP 6.13 array 21147756 ABCB11,ACVR1,ACVR1C,B3GALT1,BAZ2B,CCDC148,CCDC148-AS1,CD302,CERS6,COBLL1,CSRNP3,CYTIP,DAPL1,DHRS9,DPP4,ERMN,FAP,FIGN,G6PC2,GALNT3,GALNT5,GCA,GCG,GRB14,IFIH1,ITGB6,KCNH7,LOC100506124,LOC100506134,LOC100861402,LY75,LY75-CD302,MARCH7,MIR4774,MIR4785,NOSTRIN,PKP4,PLA2R1,PSMD14,RBMS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SLC4A10,SNORA70F,SPC25,STK39,TANC1,TANK,TBR1,TTC21B,UPP2,WDSUB1,XIRP2 chr2 157797666 157797766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 157822356 157876162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157822356 157876162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157827243 157828039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 157839804 157839904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15784288 15784370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 157863565 157863916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157873859 159393276 LOH Normal High-resolution SNP genotyping 21211785 ACVR1,ACVR1C,CCDC148,CCDC148-AS1,CYTIP,ERMN,GALNT5,PKP4,UPP2 chr2 157873859 159420036 LOH Normal High-resolution SNP genotyping 21211785 ACVR1,ACVR1C,CCDC148,CCDC148-AS1,CYTIP,ERMN,GALNT5,PKP4,UPP2 chr2 157883372 157892392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157883372 157892392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157892526 157893507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 157939848 157993421 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 157949 334228 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACP1,FAM150B,SH3YL1 chr2 157979379 158008850 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 157979379 158008850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157979379 158008850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 157980806 157981178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 157980848 157981178 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 158000659 158007710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 158006308 158006397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 158047249 158079661 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 15805177 15833477 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 158062114 158062434 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 158091524 158193645 Gain or loss Breast cancer - 20668451 ERMN,GALNT5 chr2 158091524 158193645 Gain or loss Cancer - 20668451 ERMN,GALNT5 chr2 158091524 158193645 Gain or loss Lung cancer - 20668451 ERMN,GALNT5 chr2 158091524 158193645 Gain or loss Ovarian cancer - 20668451 ERMN,GALNT5 chr2 158091524 158193645 Gain or loss Pancreas cancer - 20668451 ERMN,GALNT5 chr2 158091524 158193645 Gain or loss Prostate cancer - 20668451 ERMN,GALNT5 chr2 158096641 158126112 Gain and loss Pancreatic cancer SNP array 17952125 GALNT5 chr2 158097152 158193645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERMN,GALNT5 chr2 158097152 158193645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERMN,GALNT5 chr2 158097152 158193645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERMN,GALNT5 chr2 158141584 158141912 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNT5 chr2 158214411 158310907 Gain and loss Pancreatic cancer SNP array 17952125 CYTIP chr2 158301204 158440620 Gain or loss Breast cancer - 20668451 ACVR1C chr2 158301204 158440620 Gain or loss Cancer - 20668451 ACVR1C chr2 158301204 158440620 Gain or loss Lung cancer - 20668451 ACVR1C chr2 158301204 158440620 Gain or loss Ovarian cancer - 20668451 ACVR1C chr2 158301204 158440620 Gain or loss Pancreas cancer - 20668451 ACVR1C chr2 158301204 158440620 Gain or loss Prostate cancer - 20668451 ACVR1C chr2 158301207 158439869 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACVR1C chr2 158301207 158440598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACVR1C chr2 158301207 158440598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR1C chr2 158301369 158301419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 158350218 158350318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 15838179 16447044 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-313K arrays 21546498 MYCN,MYCNOS chr2 158382920 158383015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 158418469 158557131 Gain and loss Pancreatic cancer SNP array 17952125 ACVR1C chr2 158420028 158420104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR1C chr2 158427332 158427642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACVR1C chr2 158450305 158450405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACVR1C chr2 158450828 158450928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACVR1C chr2 158477569 158477631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR1C chr2 158481413 158481513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACVR1C chr2 158510136 158510362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 158510221 158510370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 158510353 158510588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 158550546 158550652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 158559937 158700724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACVR1 chr2 158559937 158700724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR1 chr2 158568235 158568335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 158570630 158604757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACVR1 chr2 158571838 158571953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 158594831 158594893 Gain and loss Pancreatic cancer SNP array 17952125 ACVR1 chr2 158597430 158598684 Gain Normal 244K array 17666407 ACVR1 chr2 158602213 158602283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACVR1 chr2 158626519 160156966 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACVR1,CCDC148,CCDC148-AS1,DAPL1,PKP4,TANC1,UPP2,WDSUB1 chr2 158633636 159380326 LOH Normal High-resolution SNP genotyping 21211785 ACVR1,CCDC148,CCDC148-AS1,PKP4,UPP2 chr2 158666628 158700724 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACVR1 chr2 158667809 158667914 Gain and loss Pancreatic cancer SNP array 17952125 ACVR1 chr2 158681610 158687506 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 ACVR1 chr2 158699272 158723023 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACVR1 chr2 158736302 159021460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UPP2 chr2 158736302 159021460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UPP2 chr2 158736725 159021460 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 UPP2 chr2 158783880 158817986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 158853987 159138722 Gain and loss Pancreatic cancer SNP array 17952125 CCDC148,CCDC148-AS1,UPP2 chr2 15885945 15920617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 158872799 158873896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UPP2 chr2 158880853 158880885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UPP2 chr2 15889035 15889098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 158952532 158952617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UPP2 chr2 158991374 158991474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UPP2 chr2 158998999 159022952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 159008474 159022005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 159011924 159012219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 159021722 159246184 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC148,CCDC148-AS1 chr2 159021722 159246184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC148,CCDC148-AS1 chr2 159021722 159246184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC148,CCDC148-AS1 chr2 159097244 159097325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC148 chr2 159129186 159129481 Gain and loss Pancreatic cancer SNP array 17952125 CCDC148 chr2 159138984 159363445 Gain and loss Pancreatic cancer SNP array 17952125 CCDC148,PKP4 chr2 159223095 159299760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC148 chr2 15922510 15922626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 159265900 159266307 Gain and loss Pancreatic cancer SNP array 17952125 CCDC148 chr2 15927694 15928209 Amplification Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 NOT_FOUND chr2 159282481 159282630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC148 chr2 159282506 159282606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC148 chr2 159284919 159285146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC148 chr2 159330515 159331325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKP4 chr2 159341834 159341934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKP4 chr2 159352305 159352365 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKP4 chr2 159360075 159418540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PKP4 chr2 159360075 159418540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKP4 chr2 159369056 159427538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKP4 chr2 159370241 159371118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PKP4 chr2 159392347 159392412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKP4 chr2 159393276 159444568 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PKP4 chr2 159393276 159444568 Copy number loss Normal High-resolution SNP genotyping 21211785 PKP4 chr2 1593944 1594616 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 159401499 159401599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKP4 chr2 159418942 159438342 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PKP4 chr2 159420036 159460471 Allelic imbalance Normal High-resolution SNP genotyping 21211785 PKP4 chr2 159420036 159460471 Copy number loss Normal High-resolution SNP genotyping 21211785 PKP4 chr2 159444568 161307438 LOH Normal High-resolution SNP genotyping 21211785 BAZ2B,CD302,DAPL1,ITGB6,LY75,LY75-CD302,MARCH7,MIR4785,PKP4,PLA2R1,RBMS1,TANC1,WDSUB1 chr2 159446417 159446488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKP4 chr2 159460471 161307438 LOH Normal High-resolution SNP genotyping 21211785 BAZ2B,CD302,DAPL1,ITGB6,LY75,LY75-CD302,MARCH7,MIR4785,PKP4,PLA2R1,RBMS1,TANC1,WDSUB1 chr2 159477348 159498001 Gain and loss Pancreatic cancer SNP array 17952125 PKP4 chr2 159499157 159499217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKP4 chr2 1 59500000 Gain Normal Human genome CGH 44k ARRAY PLATFORM 22144094 ABCG5,ABCG8,ABHD1,ACP1,ACYP2,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASB3,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,CMPK2,COLEC11,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LHCGR,LINC00299,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4757,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OXER1,PDIA6,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PQLC3,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SF3B14,SH3YL1,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,VRK2,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 159500556 159500743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PKP4 chr2 159520328 159520428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKP4 chr2 159529000 159562000 Duplication Non-syndromic sensorineural hearing loss References 19212409 PKP4 chr2 159530203 159530303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PKP4 chr2 159533392 159797412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAPL1,PKP4 chr2 159533392 159797412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAPL1,PKP4 chr2 159535731 159536308 Gain and loss Pancreatic cancer SNP array 17952125 PKP4 chr2 159537955 159538053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 159544447 159545274 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 15955657 15955773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 15955660 15955773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159556826 159557629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159563678 159563749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159568603 159569080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 159589251 159589351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 159591794 159591900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 159599171 159599271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 159600000 163500000 Copy number Normal - 21701786 BAZ2B,CD302,DAPL1,DPP4,FAP,GCA,GCG,IFIH1,ITGB6,KCNH7,LY75,LY75-CD302,MARCH7,MIR4785,PLA2R1,PSMD14,RBMS1,SLC4A10,TANC1,TANK,TBR1,WDSUB1 chr2 159600000 242951149 Deletion Medulloblastoma SNP arrays 21979893 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCDC173,CCL20,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFLAR,CFLAR-AS1,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CIR1,CLK1,CNPPD1,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,D2HGDH,DAPL1,DCAF17,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP4,DTYMK,DUSP19,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,EVX2,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBXO36,FEV,FIGN,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT3,GBX2,GCA,GCG,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GORASP2,GPBAR1,GPC1,GPR1,GPR155,GPR35,GPR55,GRB14,GTF3C3,GULP1,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,KANSL1L,KBTBD10,KCNE4,KCNH7,KCNJ13,KCTD18,KIAA1715,KIF1A,KLF7,KLHL23,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100130691,LOC100286922,LOC100505695,LOC100506124,LOC100506134,LOC100507140,LOC100507443,LOC100861402,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC285084,LOC348761,LOC375295,LOC440925,LOC643387,LOC646736,LRP2,LRRFIP1,LY75,LY75-CD302,MAP2,MARCH4,MARCH7,MARS2,MDH1B,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MIR933,MLK7-AS1,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NOSTRIN,NPPC,NRP2,NUP35,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PSMD14,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM44,RBM45,RBMS1,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC25A12,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPP2,SSB,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SUMO1,TANC1,TANK,TBR1,TFPI,THAP4,TIGD1,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTC21B,TTC30A,TTC30B,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,XIRP2,XRCC5,ZAK,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 15960661 15960960 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 15961243 15961345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 159617817 159618004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159617823 159617999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159665701 159671300 Deletion Glioma mate-paired sequence 20126413 DAPL1 chr2 159667639 159669686 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DAPL1 chr2 159673591 159673735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 159685791 159686341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159709055 159709161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159709057 159709159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159734190 159766015 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 15977811 16073001 Amplification Cancer Affymetrix 250K Sty array 20164920 NOT_FOUND chr2 159800000 178000000 Loss Prostate cancer Array CGH 16573809 ABCB11,ATF2,ATP5G3,B3GALT1,BAZ2B,BBS5,CCDC173,CD302,CDCA7,CERS6,CHN1,CHRNA1,CIR1,COBLL1,CSRNP3,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DPP4,DYNC1I2,EVX2,FAP,FASTKD1,FIGN,G6PC2,GAD1,GALNT3,GCA,GCG,GORASP2,GPR155,GRB14,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,IFIH1,ITGA6,ITGB6,KBTBD10,KCNH7,KIAA1715,KLHL23,LOC100505695,LOC100506124,LOC100506134,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,LY75,LY75-CD302,MARCH7,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR4774,MIR4785,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PLA2R1,PPIG,PSMD14,RAPGEF4,RAPGEF4-AS1,RBMS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SLC25A12,SLC38A11,SLC4A10,SNORA70F,SP3,SP5,SP9,SPC25,SSB,STK39,TANC1,TANK,TBR1,TLK1,TTC21B,UBR3,WDSUB1,WIPF1,XIRP2,ZAK chr2 159800558 159851482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TANC1 chr2 159800558 159851482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TANC1 chr2 159804231 159808412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 159807486 159807545 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr2 15981726 16058721 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 NOT_FOUND chr2 159831262 159914670 Gain and loss Pancreatic cancer SNP array 17952125 TANC1 chr2 159840908 159841008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TANC1 chr2 159848326 159848420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TANC1 chr2 159855201 159861800 Deletion Glioma mate-paired sequence 20126413 TANC1 chr2 159857364 159859894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TANC1 chr2 159883736 160181326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAZ2B,TANC1,WDSUB1 chr2 159883736 160181326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAZ2B,TANC1,WDSUB1 chr2 159887317 159887392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TANC1 chr2 159909222 159909797 Gain Normal 244K array 17666407 TANC1 chr2 159917819 159968721 Gain and loss Pancreatic cancer SNP array 17952125 TANC1 chr2 159923936 159924763 Loss Normal 244K array 17666407 TANC1 chr2 15994390 15994492 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 159948195 160120757 Loss Bladder cancer array-CGH 21909424 TANC1,WDSUB1 chr2 159971269 159971369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TANC1 chr2 15997486 15997815 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 15998133 16004580 Amplification Neuroblastoma - 18923524 NOT_FOUND chr2 15998133 16004580 Amplification Neuroblastoma Agilent 44K and 244K platform aCGH 21508638 NOT_FOUND chr2 15998133 16004580 Amplification Neuroblastoma array CGH and FISH 21258086 NOT_FOUND chr2 15998133 16004580 Amplification Neuroblastoma FISH 21484798 NOT_FOUND chr2 15998133 16004580 Copy number Neuroblastoma LightCycler 480 Real-Time PCR System 22022577 NOT_FOUND chr2 15998133 16004580 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 15998133 16004580 Gain or loss Cancer - 20668451 NOT_FOUND chr2 15998133 16004580 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 15998133 16004580 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 15998133 16004580 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 15998133 16004580 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 15998133 16004580 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 15998134 16004579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 15998134 16004579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 15998134 16004579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 15998134 16004580 Copy number Autism exome sequencing 22495311 NOT_FOUND chr2 159984640 160021706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TANC1 chr2 160000999 160298587 Gain and loss Pancreatic cancer SNP array 17952125 BAZ2B,TANC1,WDSUB1 chr2 160081285 160081385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TANC1 chr2 16008263 16008563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 160084281 160084566 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 TANC1 chr2 160101001 160101103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDSUB1 chr2 160113364 160146661 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDSUB1 chr2 160158821 160158921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 160158998 160159176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 160174967 160175067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 160218264 160218364 Gain and loss Pancreatic cancer SNP array 17952125 BAZ2B chr2 160223769 160223853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BAZ2B chr2 160248507 160313660 Gain Autism Exome sequencing and CGH 22495309 BAZ2B chr2 160277246 160333329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAZ2B chr2 160277246 160333329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAZ2B chr2 160277256 160333329 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BAZ2B chr2 16030633 16030962 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 160310116 160558761 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BAZ2B chr2 16031284 16037721 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 160320433 160350556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BAZ2B chr2 160333610 160362999 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BAZ2B chr2 160333610 160469508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAZ2B chr2 160333610 160469508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAZ2B chr2 160368122 160469493 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BAZ2B chr2 16037316 16160324 Copy number Lung cancer paired-end sequencing 18438408 MYCN,MYCNOS chr2 160394517 160449851 Gain and loss Pancreatic cancer SNP array 17952125 BAZ2B chr2 160402372 160402459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BAZ2B chr2 16041410 16041710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 160450871 160480260 Gain and loss Pancreatic cancer SNP array 17952125 BAZ2B chr2 1604806 1605068 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 1604848 1604923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 160485383 160586754 Gain and loss Pancreatic cancer SNP array 17952125 MARCH7 chr2 160506258 160627367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CD302,LY75-CD302,MARCH7 chr2 160506258 160627367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD302,LY75-CD302,MARCH7 chr2 160506258 160627367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD302,LY75-CD302,MARCH7 chr2 160510571 160627367 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 CD302,LY75-CD302,MARCH7 chr2 160564098 160564420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 160574912 160575012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH7 chr2 1605957 1718575 Gain and loss Pancreatic cancer SNP array 17952125 PXDN chr2 160622767 160744628 Gain and loss Pancreatic cancer SNP array 17952125 CD302,LY75,LY75-CD302,MARCH7 chr2 160641964 161334430 Deletion Epilepsy aCGH 21204806 CD302,ITGB6,LY75,LY75-CD302,MIR4785,PLA2R1,RBMS1 chr2 160664428 160765061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LY75,LY75-CD302 chr2 160664428 160765061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LY75,LY75-CD302 chr2 160664438 160765009 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LY75,LY75-CD302 chr2 160666478 160764836 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 LY75,LY75-CD302 chr2 160667085 160711859 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LY75,LY75-CD302 chr2 160690042 162235296 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ITGB6,LY75,LY75-CD302,MIR4785,PLA2R1,PSMD14,RBMS1,TANK chr2 160710259 160710359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LY75,LY75-CD302 chr2 16074650 16074727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 160781699 160882270 Gain and loss Pancreatic cancer SNP array 17952125 PLA2R1 chr2 16080682 16087128 Amplification Medulloblastoma Affymetrix 133A, Affymetrix 133 plus 2.0, Affymetrix exon 1.0 arrays,Agilent arrays 22358457 MYCN,MYCNOS chr2 16080682 16087128 Amplification Neuroblastoma Affymetrix 10K SNP array 17327916 MYCN,MYCNOS chr2 16080682 16087128 Copy number Neuroblastoma ABI 7000 Sequence Detection System 21501490 MYCN,MYCNOS chr2 16080682 16087128 Gain Ovarian cancer Affymetrix U133 2.0 arrays, Affymetrix HTHGU133a arrays, Affymetrix U133a arrays, custom cDNA arrays 21533284 MYCN,MYCNOS chr2 160837893 160838063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLA2R1 chr2 160838761 161058551 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ITGB6,PLA2R1 chr2 160838761 161058551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGB6,PLA2R1 chr2 160838761 161058551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGB6,PLA2R1 chr2 160920435 160920509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 160955154 160955324 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 160956022 161175812 Gain and loss Pancreatic cancer SNP array 17952125 ITGB6,RBMS1 chr2 160961623 160961711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGB6 chr2 160967981 160968081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB6 chr2 160996412 160996512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB6 chr2 161026573 161026673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB6 chr2 16103784 16108862 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr2 161063575 161096585 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 161078884 161078972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 1 61100000 Gain Medulloblastoma SNP arrays 21979893 ABCG5,ABCG8,ABHD1,ACP1,ACYP2,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASB3,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,BCL11A,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,CMPK2,COLEC11,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LHCGR,LINC00299,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4757,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OXER1,PAPOLG,PDIA6,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PQLC3,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SF3B14,SH3YL1,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,VRK2,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 161115951 161147688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBMS1 chr2 161168236 161205124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBMS1 chr2 161229701 167823275 Deletion Epilepsy aCGH 21204806 COBLL1,CSRNP3,DPP4,FAP,FIGN,GALNT3,GCA,GCG,GRB14,IFIH1,KCNH7,LOC100506124,LOC100506134,MIR4785,PSMD14,RBMS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SLC4A10,SNORA70F,TANK,TBR1,TTC21B,XIRP2 chr2 161279227 161354887 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RBMS1 chr2 161326885 161326985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBMS1 chr2 161333395 161366976 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBMS1 chr2 16137376 16137452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 161413219 161418182 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 1 614287 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ACP1,FAM110C,FAM150B,SH3YL1 chr2 161442304 161442605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161442332 161442607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161450176 161450408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 1614665 1727298 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 PXDN chr2 1614666 1727298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PXDN chr2 1614666 1727298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PXDN chr2 16147667 16147954 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 161488204 162090382 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TANK chr2 16150220 16150377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 161503847 161504170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 161559593 161559868 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 161605699 161605798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 161639590 161639994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 161677152 161677252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 16168543 16168867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 16168555 16168879 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 161701712 161800978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161701712 161800978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161730765 161731938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 161789134 161789234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 161818801 161869400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 161818973 161918189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 16185757 16362618 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr2 161865133 161899599 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 161872795 161976474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161872795 161976474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161873185 161976172 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 161873185 161976172 Gain or loss Cancer - 20668451 NOT_FOUND chr2 161873185 161976172 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 161873185 161976172 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 161873185 161976172 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 161873185 161976172 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 161914974 161915117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161937210 161937310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 161952170 161952270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 161952227 161952327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 161963913 161964013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 161980866 161989819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161980866 161989819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 161990056 162093733 Gain and loss Pancreatic cancer SNP array 17952125 TANK chr2 16200818 16291084 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 162038901 162044100 Deletion Glioma mate-paired sequence 20126413 TANK chr2 162040514 162042287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TANK chr21 62065001 46944323 Deletion Glioma mate-paired sequence 20126413 chr2 162070654 162072462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TANK chr2 162082587 162082687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TANK chr2 162098127 162107080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 162121225 162121313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 162122201 162167138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PSMD14 chr2 162123300 162123400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 162154730 162157600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 162181257 162182599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PSMD14 chr2 162182903 162185135 Gain and loss Pancreatic cancer SNP array 17952125 PSMD14 chr2 162187915 162189723 Gain and loss Pancreatic cancer SNP array 17952125 PSMD14 chr2 162189091 162542069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD14,SLC4A10,TBR1 chr2 162189094 162542069 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PSMD14,SLC4A10,TBR1 chr2 162240561 162240661 Gain and loss Pancreatic cancer SNP array 17952125 PSMD14 chr2 162262478 162262837 Gain and loss Pancreatic cancer SNP array 17952125 PSMD14 chr2 162285960 162317555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 162306355 162674452 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A10 chr2 162311136 162311225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 162313991 162358862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 162430619 164116560 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DPP4,FAP,GCA,GCG,IFIH1,KCNH7,SLC4A10 chr2 16243953 16244045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 162482591 162482691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A10 chr2 16252839 16252935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 162549167 162549774 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SLC4A10 chr2 162557005 162639298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A10 chr2 162557005 162639298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A10 chr2 162613745 162613845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A10 chr2 162648371 162680218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC4A10 chr2 162651562 162674118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC4A10 chr2 162664881 162664950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A10 chr2 162674264 162756559 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A10 chr2 162708661 162717003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A10 chr2 162708661 162717003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A10 chr2 162735448 162808291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A10 chr2 162735448 162808291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A10 chr2 162771425 164500010 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DPP4,FAP,FIGN,GCA,GCG,IFIH1,KCNH7,SLC4A10 chr2 162812691 162812791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A10 chr2 16282270 16284508 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 162824895 162831195 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A10 chr2 162831836 162883285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPP4,SLC4A10 chr2 162831836 162883285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPP4,SLC4A10 chr2 162838279 162838373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A10 chr2 162852702 162925552 Gain and loss Pancreatic cancer SNP array 17952125 DPP4 chr2 162854843 162887567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DPP4 chr2 162883106 162883174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP4 chr2 162903011 162903109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPP4 chr2 162908896 162925875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPP4 chr2 162908896 162925875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPP4 chr2 162936163 163403274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAP,GCA,GCG,IFIH1,KCNH7 chr2 162936163 163403274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAP,GCA,GCG,IFIH1,KCNH7 chr2 162949097 163000546 Gain and loss Pancreatic cancer SNP array 17952125 GCG chr21 6300000 10000000 Gain Schizophrenia Affymetrix 6.0 array 21399695 MIR3648,MIR3687,TEKT4P2 chr21 6300000 12300000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr2 16300000 24300000 Deletion Prader-willi syndrome References 18923513 APOB,ATAD2B,C2orf43,C2orf44,FAM49A,FKBP1B,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC645949,MATN3,MFSD2B,MIR4757,MSGN1,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SF3B14,SMC6,TTC32,UBXN2A,VSNL1,WDR35 chr2 16300000 24300000 Deletion Schizophrenia - 22118685 APOB,ATAD2B,C2orf43,C2orf44,FAM49A,FKBP1B,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC645949,MATN3,MFSD2B,MIR4757,MSGN1,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SF3B14,SMC6,TTC32,UBXN2A,VSNL1,WDR35 chr2 16300000 24300000 Duplication Epilepsy array comparative genomic hybridization (CGH) 22118685 APOB,ATAD2B,C2orf43,C2orf44,FAM49A,FKBP1B,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC645949,MATN3,MFSD2B,MIR4757,MSGN1,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SF3B14,SMC6,TTC32,UBXN2A,VSNL1,WDR35 chr2 16300000 24300000 Duplication Schizophrenia array comparative genomic hybridization (CGH) 22118685 APOB,ATAD2B,C2orf43,C2orf44,FAM49A,FKBP1B,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC645949,MATN3,MFSD2B,MIR4757,MSGN1,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SF3B14,SMC6,TTC32,UBXN2A,VSNL1,WDR35 chr21 6300000 46944323 Gain Acute lymphoblastic leukemia array CGH 17690704 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR3648,MIR3687,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC19A1,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 16302100 16302192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 163026157 163043136 Gain and loss Pancreatic cancer SNP array 17952125 FAP chr2 163053424 163520535 Gain and loss Pancreatic cancer SNP array 17952125 FAP,GCA,IFIH1,KCNH7 chr2 163054809 166800179 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 COBLL1,CSRNP3,FAP,FIGN,GALNT3,GCA,GRB14,IFIH1,KCNH7,LOC100506124,LOC100506134,SCN2A,SCN3A,SLC38A11,SNORA70F,TTC21B chr2 16306046 16321061 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 163061692 163061807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAP chr2 163105767 163109591 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 163154954 163155054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFIH1 chr2 163178954 163179042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 163211442 163244408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GCA,KCNH7 chr2 16336024 16350934 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 163374303 163374388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH7 chr2 163374655 163374969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNH7 chr2 163401879 163402029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH7 chr2 163500000 169500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 B3GALT1,CERS6,COBLL1,CSRNP3,FIGN,GALNT3,GRB14,KCNH7,LOC100506124,LOC100506134,MIR4774,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SNORA70F,STK39,TTC21B,XIRP2 chr2 163500000 169500000 Copy number Normal - 21701786 B3GALT1,CERS6,COBLL1,CSRNP3,FIGN,GALNT3,GRB14,KCNH7,LOC100506124,LOC100506134,MIR4774,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SNORA70F,STK39,TTC21B,XIRP2 chr2 163500000 169500000 Duplication Neonatal seizures NimbleGen Systems Inc. using a chromosome 2 specific array 20384724 B3GALT1,CERS6,COBLL1,CSRNP3,FIGN,GALNT3,GRB14,KCNH7,LOC100506124,LOC100506134,MIR4774,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SNORA70F,STK39,TTC21B,XIRP2 chr2 163500000 169500000 Translocation severe myoclonic epilepsy of infancy FISH 18294202 B3GALT1,CERS6,COBLL1,CSRNP3,FIGN,GALNT3,GRB14,KCNH7,LOC100506124,LOC100506134,MIR4774,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SNORA70F,STK39,TTC21B,XIRP2 chr2 163500000 177700000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCB11,ATF2,ATP5G3,B3GALT1,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,COBLL1,CSRNP3,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,FIGN,G6PC2,GAD1,GALNT3,GORASP2,GPR155,GRB14,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KCNH7,KIAA1715,KLHL23,LOC100505695,LOC100506124,LOC100506134,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR4774,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SLC25A12,SLC38A11,SNORA70F,SP3,SP5,SP9,SPC25,SSB,STK39,TLK1,TTC21B,UBR3,WIPF1,XIRP2,ZAK chr2 163602392 163602492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH7 chr2 163645987 163646087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH7 chr2 16365808 16396206 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 163678424 163678614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH7 chr2 163678617 163678841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH7 chr2 163678644 163678744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH7 chr2 163700000 178000000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABCB11,ATF2,ATP5G3,B3GALT1,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,COBLL1,CSRNP3,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,FIGN,G6PC2,GAD1,GALNT3,GORASP2,GPR155,GRB14,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100505695,LOC100506124,LOC100506134,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR4774,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SLC25A12,SLC38A11,SNORA70F,SP3,SP5,SP9,SPC25,SSB,STK39,TLK1,TTC21B,UBR3,WIPF1,XIRP2,ZAK chr2 163740887 163740987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 163810540 163810640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 16382468 16382568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 163852464 163852603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 163853751 163853852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 163905930 163906030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 16391807 16425191 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 163971011 163971119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 163971014 163971109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 164024110 164058140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 164047682 164498866 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 FIGN chr2 1640523 1640669 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PXDN chr2 16411571 16531358 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 164156416 164179626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 164158152 164300768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 164158152 164300768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 16419126 17772362 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM49A,RAD51AP2,VSNL1 chr2 16424003 16425015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 164250955 164250987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 164289632 164418020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 164351734 164353372 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 164380446 164382141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 16438723 16438823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 164609095 164609160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 646127 LOH Normal High-resolution SNP genotyping 21211785 ACP1,FAM110C,FAM150B,SH3YL1 chr2 164617009 164617109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 16469710 16469810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 164714137 164714237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 164768678 165569582 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 COBLL1,GRB14,SNORA70F chr2 164853808 164853908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 164959651 164959751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 165016944 165563376 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COBLL1,GRB14,SNORA70F chr2 165016944 170155045 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCB11,B3GALT1,CERS6,COBLL1,CSRNP3,DHRS9,G6PC2,GALNT3,GRB14,LOC100506124,LOC100506134,LOC100861402,LRP2,MIR4774,NOSTRIN,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SLC38A11,SNORA70F,SPC25,STK39,TTC21B,XIRP2 chr2 165057579 165186606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 165057579 165186606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 165062923 165063023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 165074768 165074868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 165174840 165303867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 165207473 165207729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 165249502 165406781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRB14 chr2 165249502 165406781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRB14 chr2 165252399 165252533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 16529115 16529215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 165299926 165299958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 165311068 165311132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 165325649 165360931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRB14 chr2 165366846 165523429 Gain and loss Pancreatic cancer SNP array 17952125 GRB14 chr2 165369660 165369794 Gain and loss Pancreatic cancer SNP array 17952125 GRB14 chr2 165423188 165423302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRB14 chr2 165428329 165428393 Gain and loss Pancreatic cancer SNP array 17952125 GRB14 chr2 165429457 165429541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRB14 chr2 165450266 165450332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRB14 chr2 165460419 165460533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRB14 chr2 165460444 165460533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRB14 chr2 165463058 165520281 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRB14 chr2 165463058 165520281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRB14 chr2 16546338 16657078 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 165515908 166105323 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COBLL1,SCN2A,SCN3A,SLC38A11,SNORA70F chr2 165534617 165567085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COBLL1,SNORA70F chr2 165540449 165540556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 165540449 165540563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 165577705 165577794 Gain and loss Pancreatic cancer SNP array 17952125 COBLL1 chr2 165580319 165637542 Gain and loss Pancreatic cancer SNP array 17952125 COBLL1 chr2 165600611 165600709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COBLL1 chr2 165609559 165609619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COBLL1 chr2 165652278 165768823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COBLL1,SLC38A11 chr2 165652278 165768823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COBLL1,SLC38A11 chr2 165669846 165690505 Loss Normal 244K array 17666407 COBLL1 chr2 165676867 165677272 Gain and loss Pancreatic cancer SNP array 17952125 COBLL1 chr2 165678880 165678960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COBLL1 chr2 165692254 165693487 Gain Normal 244K array 17666407 COBLL1 chr2 165721001 165727000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 165721785 165722387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 165722940 165724990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 165730473 165730552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 165751604 165862069 Deletion Normal CMA V8.0 OLIGO 17427034 SLC38A11 chr2 165751604 165872284 Deletion Afebrile Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 SLC38A11 chr2 165751604 165872284 Deletion Convulsion Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 SLC38A11 chr2 165751604 165872284 Deletion Epilepsy Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 SLC38A11 chr2 165769547 165886060 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A11 chr2 165804158 165957064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN3A,SLC38A11 chr2 165804158 165957064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN3A,SLC38A11 chr2 165826106 165952083 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SCN3A chr2 165828130 165952083 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SCN3A chr2 16587556 16587937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 165921462 166072046 Gain and loss Pancreatic cancer SNP array 17952125 SCN3A chr2 16592320 16592644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 16594890 16710580 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 16594890 16710580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 16594890 16710580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 165963543 165963638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN3A chr2 165975755 165976077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCN3A chr2 166000573 166000657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN3A chr2 166002320 166002742 Gain and loss Pancreatic cancer SNP array 17952125 SCN3A chr2 166017173 166028741 Gain and loss Pancreatic cancer SNP array 17952125 SCN3A chr2 16601946 16602046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 166034454 166245435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN2A,SCN3A chr2 166034454 166245435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN2A,SCN3A chr2 166085737 166598639 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-334K arrays 21546498 CSRNP3,SCN2A chr2 166089440 166089538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 166104649 166105168 Gain and loss Pancreatic cancer SNP array 17952125 SCN2A chr2 166151664 166362696 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP3,SCN2A chr2 16623487 16623555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 166235 200276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 166279451 166309922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 166310984 166311074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 166312559 166359049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSRNP3 chr2 166355541 166378359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSRNP3 chr2 166378971 166379110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSRNP3 chr2 1663895 1665316 Copy number Autism exome sequencing 22495311 PXDN chr2 166390207 166391961 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP3 chr2 166392256 166392600 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP3 chr2 1663928 1664028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PXDN chr2 166393703 166394544 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP3 chr2 166394660 167941640 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CSRNP3,GALNT3,LOC100506124,LOC100506134,SCN1A,SCN7A,SCN9A,TTC21B,XIRP2 chr2 166414510 166415415 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP3 chr2 166428829 166476213 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP3 chr2 166438700 166524256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSRNP3 chr2 166438700 166524256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSRNP3 chr2 16645829 16645929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 166490261 166635855 Gain and loss Pancreatic cancer SNP array 17952125 CSRNP3,GALNT3 chr2 16653037 16726918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 166543202 166543302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSRNP3 chr2 166553915 166638395 Copy number Dravet syndrome References 21504425 GALNT3 chr2 166553915 166638395 Deletion Myoclonic epilepsy FISH,CGH 18479393 GALNT3 chr2 166553916 166638395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT3 chr2 166553916 166638395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT3 chr2 16655528 20555528 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 FAM49A,FLJ12334,GEN1,KCNS3,LAPTM4A,MATN3,MIR4757,MSGN1,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,SDC1,SMC6,TTC32,VSNL1,WDR35 chr2 166654992 166655092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 166671180 166740708 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506124,TTC21B chr2 16671954 24922941 Copy number Lung cancer paired-end sequencing 18438408 APOB,ATAD2B,C2orf43,C2orf44,FAM228A,FAM228B,FAM49A,FKBP1B,FLJ12334,GDF7,GEN1,HS1BP3,ITSN2,KCNS3,KLHL29,LAPTM4A,LOC645949,MATN3,MFSD2B,MIR4757,MSGN1,NCOA1,NT5C1B,NT5C1B-RDH14,OSR1,PFN4,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SF3B14,SMC6,TP53I3,TTC32,UBXN2A,VSNL1,WDR35 chr2 166745398 166745722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC21B chr2 166745435 166745690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC21B chr2 166759941 166940749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506134,SCN1A,TTC21B chr2 166759941 166940749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506134,SCN1A,TTC21B chr2 166766273 166766423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC21B chr2 166787333 166787635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC21B chr2 166805508 166805618 Gain and loss Pancreatic cancer SNP array 17952125 TTC21B chr2 166805513 166805616 Gain and loss Pancreatic cancer SNP array 17952125 TTC21B chr2 16683275 16683350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 166862696 166862951 Gain and loss Pancreatic cancer SNP array 17952125 SCN1A chr2 166863926 166867039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCN1A chr2 166880319 166993821 Gain and loss Pancreatic cancer SNP array 17952125 SCN1A chr2 16689797 16689897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 166921363 166921463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN1A chr2 166923494 166923587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN1A chr2 166968329 167051724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN1A,SCN9A chr2 166968329 167051724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN1A,SCN9A chr2 166997826 166997889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN1A chr2 167040755 167040848 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 167043108 167049481 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 167060713 167060813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN9A chr2 167087396 167176226 Gain and loss Pancreatic cancer SNP array 17952125 SCN9A chr2 167113243 167113294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN9A chr2 167202893 167209701 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SCN9A chr2 167212580 167216160 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 SCN9A chr2 167232664 167232754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 167301064 167301159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN7A chr2 167305765 167337931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCN7A chr2 167322893 167334270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCN7A chr2 167453243 167824509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XIRP2 chr2 167453243 167824509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XIRP2 chr2 167462139 167485704 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 167465352 167465445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 167468239 167824505 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 XIRP2 chr2 1675023 2211750 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MYT1L,PXDN chr2 16750821 16785026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM49A chr2 167553199 167559454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 167582755 168373581 LOH Normal High-resolution SNP genotyping 21211785 XIRP2 chr2 167585500 167941761 Gain and loss Pancreatic cancer SNP array 17952125 XIRP2 chr2 167669489 167696252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 167801049 167801149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XIRP2 chr2 16790000 23930000 Loss Breast cancer aCGH 21509527 APOB,C2orf43,FAM49A,FLJ12334,GDF7,GEN1,HS1BP3,KCNS3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,MSGN1,NT5C1B,NT5C1B-RDH14,OSR1,PUM2,RAD51AP2,RDH14,RHOB,SDC1,SMC6,TTC32,VSNL1,WDR35 chr2 167918851 167918936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XIRP2 chr2 167969283 168002725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 XIRP2 chr21 6800000 16400000 Gain Sudden cardiac death CGH 19188705 ABCC13,ANKRD20A11P,ANKRD30BP2,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,C21orf15,HSPA13,LIPI,LOC388813,MIR3156-3,MIR3648,MIR3687,NRIP1,POTED,RBM11,SAMSN1,SAMSN1-AS1,TEKT4P2,TPTE chr2 168001355 168005991 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 XIRP2 chr2 16810980 16811080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM49A chr2 168115783 168115888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XIRP2 chr2 168131396 168247871 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr2 16822175 16822244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM49A chr2 168313497 168313559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 168314876 168465817 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 168374816 168375560 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 168383428 168435612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 168383428 168435612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 168391936 169047729 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B3GALT1,STK39 chr2 1684401 1688600 Deletion Glioma mate-paired sequence 20126413 PXDN chr2 168466065 224444130 Gain Prostate cancer Array CGH 18632612 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGPS,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKRD44,ANKZF1,AOX1,AOX2P,ARPC2,ASIC4,ASNSD1,ATF2,ATG9A,ATIC,ATP5G3,B3GALT1,BARD1,BBS5,BCS1L,BMPR2,BOLL,BZW1,C2orf47,C2orf62,C2orf66,C2orf69,C2orf80,C2orf88,CALCRL,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCDC173,CCNYL1,CD28,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFLAR,CFLAR-AS1,CHN1,CHPF,CHRNA1,CIR1,CLK1,CNPPD1,COL3A1,COL5A2,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CWC22,CXCR1,CXCR2,CXCR2P1,CYBRD1,CYP20A1,CYP27A1,DCAF17,DES,DFNB59,DHRS9,DIRC1,DIRC3,DLX1,DLX2,DNAH7,DNAJB2,DNAJC10,DNPEP,DUSP19,DYNC1I2,DYTN,EEF1B2,EPHA4,ERBB4,EVX2,FAM117B,FAM126B,FAM134A,FAM171B,FARSB,FASTKD1,FASTKD2,FEV,FKBP7,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GCSHP3,GLB1L,GLS,GMPPA,GORASP2,GPBAR1,GPR1,GPR155,GTF3C3,GULP1,HAT1,HECW2,HIBCH,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,INHA,INO80D,INPP1,ITGA4,ITGA6,ITGAV,KANSL1L,KBTBD10,KCNE4,KCTD18,KIAA1715,KLF7,KLHL23,LANCL1,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100130691,LOC100505695,LOC100507140,LOC100507443,LOC100861402,LOC200726,LOC285084,LOC375295,LOC440925,LRP2,MAP2,MARCH4,MARS2,MDH1B,METAP1D,METTL21A,METTL5,METTL8,MFSD6,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR153-1,MIR2355,MIR26B,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4437,MIR4444-1,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR548F2,MIR548N,MIR561,MIR933,MLK7-AS1,MOB4,MOGAT1,MPP4,MREG,MSTN,MTX2,MYL1,MYO1B,MYO3B,NAB1,NABP1,NBEAL1,NCKAP1,NDUFB3,NDUFS1,NEUROD1,NFE2L2,NHEJ1,NIF3L1,NOP58,NOSTRIN,NRP2,NUP35,OBSL1,OLA1,ORC2,ORMDL1,OSBPL6,OSGEPL1,PARD3B,PAX3,PCGEM1,PDE11A,PDE1A,PDK1,PECR,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PPIG,PPIL3,PPP1R1C,PRKAG3,PRKRA,PTH2R,PTPRN,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM45,RESP18,RFTN2,RNF25,RPE,RPL37A,RQCD1,RUFY4,SATB2,SATB2-AS1,SCRN3,SDPR,SESTD1,SF3B1,SGOL2,SGPP2,SLC11A1,SLC23A3,SLC25A12,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNORA41,SNORD11,SNORD11B,SNORD51,SNORD70,SP3,SP5,SP9,SPAG16,SPATS2L,SPC25,SPEG,SSB,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK36,STK39,STRADB,SUMO1,TFPI,TLK1,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAK2,TTC30A,TTC30B,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TYW5,UBE2E3,UBR3,UNC80,USP37,VIL1,VWC2L,VWC2L-IT1,WDR12,WDR75,WIPF1,WNT10A,WNT6,XRCC5,ZAK,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 168500689 168552873 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 168518775 168812351 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 B3GALT1,STK39 chr2 168518777 168812365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GALT1,STK39 chr2 168518777 168812365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALT1,STK39 chr2 1685748 1686153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PXDN chr2 1 68600000 Copy number Lynch syndrome Illumina BeadArrays and the GoldenGate assay 18415027 ABCG5,ABCG8,ABHD1,ACP1,ACTR2,ACYP2,ADAM17,ADCY3,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASB3,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DBIL5P2,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,FAM110C,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OTX1,OXER1,PAPOLG,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SERTAD2,SF3B14,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA70B,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 168602301 168606300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 168604053 168604372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 168636038 168929452 Gain and loss Pancreatic cancer SNP array 17952125 B3GALT1,STK39 chr2 168671311 168671406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 16873000 60356000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ABCG5,ABCG8,ABHD1,ACYP2,ADCY3,AGBL5,ALK,APOB,ARHGEF33,ASB3,ASXL2,ATAD2B,ATL2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,EFEMP1,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,FAM179A,FAM228A,FAM228B,FAM59B,FAM82A1,FAM98A,FANCL,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ30838,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GPR75,GPR75-ASB3,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HS1BP3,IFT172,ITSN2,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIF3C,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LHCGR,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC375196,LOC388942,LOC388948,LOC645949,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MCFD2,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3682,MIR4263,MIR4426,MIR4757,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MYADML,NCOA1,NLRC4,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,OSR1,OST4,OTOF,OXER1,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PTRHD1,PUM2,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,RPL23AP32,RPS27A,RTN4,SDC1,SF3B14,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORD53,SNORD92,SNX17,SOCS5,SOS1,SPAST,SPDYA,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TCF23,THADA,THUMPD2,TMEM178A,TMEM214,TMEM247,TP53I3,TRIM54,TRMT61B,TSPYL6,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,VRK2,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,ZFP36L2,ZNF512,ZNF513 chr2 168735429 168735529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 168735519 168735551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 168769614 168769714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 168798554 168798652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 168817178 168985990 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 STK39 chr2 16886780 16886862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 168871251 168871351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK39 chr2 168883837 168915234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STK39 chr2 168913686 169674698 LOH Normal High-resolution SNP genotyping 21211785 CERS6,LOC100861402,MIR4774,NOSTRIN,STK39 chr2 168919477 168919577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK39 chr2 168953498 168953555 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 STK39 chr2 16898258 16898368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 16898568 16900032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 16899667 16899756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 16899673 16899756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 168996840 168996924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STK39 chr2 169005247 169005321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK39 chr2 169005716 169005961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK39 chr2 169016080 169016362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK39 chr2 169016080 169016382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK39 chr2 169018807 169018881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK39 chr2 169021005 169339398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS6,STK39 chr2 169021005 169339398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS6,STK39 chr2 169078659 169078759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK39 chr2 169103709 169104020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STK39 chr2 169112240 169112300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 16911499 16925756 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 169122508 169122582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 169122977 169123222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 169133341 169133623 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 169138342 169456659 Gain and loss Pancreatic cancer SNP array 17952125 CERS6,MIR4774 chr2 169171146 169171252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 169251399 169251499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 169288407 169288513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 169288409 169288513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 169314378 169314453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CERS6 chr2 169367353 169429810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS6 chr2 169367353 169429810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS6 chr2 169370270 169912106 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCB11,CERS6,G6PC2,LOC100861402,MIR4774,NOSTRIN,SPC25 chr2 169432025 169436121 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 CERS6 chr2 169433597 169433662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CERS6 chr2 169435648 169455190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS6,MIR4774 chr2 169435648 169455190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS6,MIR4774 chr2 169465996 169474755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS6 chr2 169465996 169474755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS6 chr2 169469879 169547071 Gain and loss Pancreatic cancer SNP array 17952125 CERS6 chr2 169487694 169596079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS6 chr2 169487694 169596079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS6 chr2 169497338 169497438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CERS6 chr2 169500000 177700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCB11,ATF2,ATP5G3,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,G6PC2,GAD1,GORASP2,GPR155,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCRN3,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,UBR3,WIPF1,ZAK chr2 169500000 177700000 Copy number Donnai-Barrow syndrome high-resolution SNP arrays 21085971 ABCB11,ATF2,ATP5G3,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,G6PC2,GAD1,GORASP2,GPR155,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCRN3,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,UBR3,WIPF1,ZAK chr2 169500000 177700000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABCB11,ATF2,ATP5G3,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,G6PC2,GAD1,GORASP2,GPR155,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCRN3,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,UBR3,WIPF1,ZAK chr2 169500000 177700000 Copy number Normal - 21701786 ABCB11,ATF2,ATP5G3,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,G6PC2,GAD1,GORASP2,GPR155,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCRN3,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,UBR3,WIPF1,ZAK chr2 169500000 177700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCB11,ATF2,ATP5G3,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,G6PC2,GAD1,GORASP2,GPR155,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCRN3,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,UBR3,WIPF1,ZAK chr2 169500000 177700000 Gain Breast cancer aCGH 21045282 ABCB11,ATF2,ATP5G3,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,G6PC2,GAD1,GORASP2,GPR155,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCRN3,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,UBR3,WIPF1,ZAK chr2 169500000 177700000 Microdeletion Limb Abnormalities aCGH 22140379 ABCB11,ATF2,ATP5G3,BBS5,CCDC173,CDCA7,CERS6,CHN1,CHRNA1,CIR1,CYBRD1,DCAF17,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,G6PC2,GAD1,GORASP2,GPR155,HAT1,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR933,MLK7-AS1,MTX2,MYO3B,NOSTRIN,OLA1,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,RAPGEF4,RAPGEF4-AS1,SCRN3,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,UBR3,WIPF1,ZAK chr2 169500000 182700000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCB11,AGPS,ATF2,ATP5G3,BBS5,CCDC141,CCDC173,CDCA7,CERKL,CERS6,CHN1,CHRNA1,CIR1,CWC22,CYBRD1,DCAF17,DFNB59,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,FKBP7,G6PC2,GAD1,GORASP2,GPR155,HAT1,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA4,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100130691,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR1258,MIR3128,MIR4437,MIR4444-1,MIR548N,MIR933,MLK7-AS1,MTX2,MYO3B,NEUROD1,NFE2L2,NOSTRIN,OLA1,OSBPL6,PDE11A,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PLEKHA3,PPIG,PRKRA,RAPGEF4,RAPGEF4-AS1,RBM45,SCRN3,SESTD1,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,TTC30A,TTC30B,TTN,TTN-AS1,UBE2E3,UBR3,WIPF1,ZAK,ZNF385B chr2 169500000 182700000 Gain Seminomas CGH, Comparative expressed sequence hybridisation 18059402 ABCB11,AGPS,ATF2,ATP5G3,BBS5,CCDC141,CCDC173,CDCA7,CERKL,CERS6,CHN1,CHRNA1,CIR1,CWC22,CYBRD1,DCAF17,DFNB59,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,FKBP7,G6PC2,GAD1,GORASP2,GPR155,HAT1,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA4,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100130691,LOC100505695,LOC100861402,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR1258,MIR3128,MIR4437,MIR4444-1,MIR548N,MIR933,MLK7-AS1,MTX2,MYO3B,NEUROD1,NFE2L2,NOSTRIN,OLA1,OSBPL6,PDE11A,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PLEKHA3,PPIG,PRKRA,RAPGEF4,RAPGEF4-AS1,RBM45,SCRN3,SESTD1,SLC25A12,SP3,SP5,SP9,SPC25,SSB,TLK1,TTC30A,TTC30B,TTN,TTN-AS1,UBE2E3,UBR3,WIPF1,ZAK,ZNF385B chr2 169512140 169512240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CERS6 chr2 169541049 169562471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS6 chr2 169542331 169554822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS6 chr2 169543159 169555437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS6 chr2 169546830 169564872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS6 chr2 169547090 169555578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CERS6 chr2 169552909 169572451 Gain and loss Pancreatic cancer SNP array 17952125 CERS6 chr2 16957820 16957903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 169583349 169590096 Gain and loss Pancreatic cancer SNP array 17952125 CERS6 chr2 16958579 16958679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 169594468 169594794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CERS6 chr2 169604955 169713340 Gain and loss Pancreatic cancer SNP array 17952125 CERS6,LOC100861402,NOSTRIN chr2 169629545 169660923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERS6,LOC100861402,NOSTRIN chr2 169629545 169660923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERS6,LOC100861402,NOSTRIN chr2 169691865 169927368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCB11,DHRS9,G6PC2,NOSTRIN,SPC25 chr2 169691865 169927368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCB11,DHRS9,G6PC2,NOSTRIN,SPC25 chr2 169700000 183000000 Gain Sudden cardiac death CGH 19188705 ABCB11,AGPS,ATF2,ATP5G3,BBS5,CCDC141,CCDC173,CDCA7,CERKL,CHN1,CHRNA1,CIR1,CWC22,CYBRD1,DCAF17,DFNB59,DHRS9,DLX1,DLX2,DYNC1I2,EVX2,FASTKD1,FKBP7,G6PC2,GAD1,GORASP2,GPR155,HAT1,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA4,ITGA6,KBTBD10,KIAA1715,KLHL23,LOC100130691,LOC100505695,LOC285084,LOC375295,LOC440925,LRP2,METAP1D,METTL5,METTL8,MIR10B,MIR1246,MIR1258,MIR3128,MIR4437,MIR4444-1,MIR548N,MIR933,MLK7-AS1,MTX2,MYO3B,NEUROD1,NFE2L2,NOSTRIN,OLA1,OSBPL6,PDE11A,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PLEKHA3,PPIG,PPP1R1C,PRKRA,RAPGEF4,RAPGEF4-AS1,RBM45,SCRN3,SESTD1,SLC25A12,SP3,SP5,SP9,SPC25,SSB,SSFA2,TLK1,TTC30A,TTC30B,TTN,TTN-AS1,UBE2E3,UBR3,WIPF1,ZAK,ZNF385B chr2 169704802 169743237 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOSTRIN,SPC25 chr2 169712218 169712301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOSTRIN chr2 169746806 169778184 Gain and loss Pancreatic cancer SNP array 17952125 G6PC2,SPC25 chr2 169810368 170044520 Gain and loss Pancreatic cancer SNP array 17952125 ABCB11,DHRS9,LRP2 chr2 169813361 169819427 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ABCB11 chr2 169813362 169819408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABCB11 chr2 169862446 169862546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCB11 chr2 169929339 169953371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DHRS9 chr2 169966987 169967071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 169977871 169977971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 17000000 19100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GEN1,KCNS3,MSGN1,NT5C1B,NT5C1B-RDH14,RAD51AP2,RDH14,SMC6,VSNL1 chr2 17000000 19100000 Deletions,duplications Cancer FISH and aCGH 21258086 GEN1,KCNS3,MSGN1,NT5C1B,NT5C1B-RDH14,RAD51AP2,RDH14,SMC6,VSNL1 chr2 17000000 19100000 Deletions,duplications Neuroblastoma FISH and aCGH 21258086 GEN1,KCNS3,MSGN1,NT5C1B,NT5C1B-RDH14,RAD51AP2,RDH14,SMC6,VSNL1 chr2 170014300 170014393 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRP2 chr2 170023007 170023082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP2 chr2 170027829 170034828 Loss Normal TaqMan assays 20972442 LRP2 chr2 17003884 17003984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 170044239 170071410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170044239 170071410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170074458 170091018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170074458 170091018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170094515 170138568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170094515 170138568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170149096 170202491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170149096 170202491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170161500 170188671 Gain and loss Pancreatic cancer SNP array 17952125 LRP2 chr2 170191719 170208279 Gain and loss Pancreatic cancer SNP array 17952125 LRP2 chr2 17019985 17226171 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 170210181 170259177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170210181 170259177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP2 chr2 170211772 170255849 Gain and loss Pancreatic cancer SNP array 17952125 LRP2 chr2 170259221 170266462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 170259221 170266462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 170259247 170316644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 170259247 170316644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 170266357 170319754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 170277335 170445557 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BBS5,FASTKD1,KBTBD10,PPIG chr2 170291210 170325902 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 170292628 170292759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 170311824 170375059 Loss Autism qPCR 20531469 BBS5,KBTBD10 chr2 170311842 170314925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 170314673 170314937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 170327758 170336109 Gain and loss Pancreatic cancer SNP array 17952125 BBS5 chr2 170347801 170353900 Deletion Glioma mate-paired sequence 20126413 BBS5 chr2 170349754 170352197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BBS5 chr2 170363627 170376820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KBTBD10 chr2 170363627 170376820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KBTBD10 chr2 170374837 170389681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FASTKD1,KBTBD10 chr2 170374837 170389681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FASTKD1,KBTBD10 chr2 170376508 170431821 Gain and loss Pancreatic cancer SNP array 17952125 FASTKD1,KBTBD10 chr2 170381035 170381107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KBTBD10 chr2 170392214 170648887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC173,FASTKD1,KLHL23,PHOSPHO2,PHOSPHO2-KLHL23,PPIG chr2 170392214 170648887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC173,FASTKD1,KLHL23,PHOSPHO2,PHOSPHO2-KLHL23,PPIG chr2 170409889 170410020 Gain and loss Pancreatic cancer SNP array 17952125 FASTKD1 chr2 170431934 170432198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 170431984 170432186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 170452849 170499792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPIG chr2 170475842 171423379 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC173,KLHL23,METTL5,MYO3B,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,SSB,UBR3 chr2 170477054 171125631 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CCDC173,KLHL23,METTL5,MYO3B,PHOSPHO2,PHOSPHO2-KLHL23,PPIG,SSB,UBR3 chr2 170480896 170494082 Gain and loss Pancreatic cancer SNP array 17952125 PPIG chr2 170493777 170506922 Gain and loss Pancreatic cancer SNP array 17952125 CCDC173,PPIG chr2 170498296 170498368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 170509792 170606208 Gain and loss Pancreatic cancer SNP array 17952125 CCDC173,KLHL23,PHOSPHO2,PHOSPHO2-KLHL23 chr2 170610775 170764383 Gain and loss Pancreatic cancer SNP array 17952125 METTL5,SSB,UBR3 chr2 170664017 171149448 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 METTL5,MYO3B,SSB,UBR3 chr2 170684768 170684858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBR3 chr2 170700259 170700567 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBR3 chr2 17071411 170044252 Copy number Autism exome sequencing 22495311 AAK1,ABCB11,ABCG5,ABCG8,ABHD1,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADCY3,ADD2,ADRA2B,AFF3,AFTPH,AGBL5,AHSA2,ALK,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,BAZ2B,BCL11A,BCL2L11,BIN1,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf49,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf76,C2orf78,C2orf81,C2orf91,CACNB4,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CBWD2,CCDC104,CCDC115,CCDC121,CCDC138,CCDC142,CCDC148,CCDC148-AS1,CCDC164,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCNT2,CCT4,CCT7,CD207,CD302,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERS6,CFC1,CFC1B,CGREF1,CHAC2,CHCHD5,CHMP3,CHST10,CIAO1,CIB4,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COBLL1,COMMD1,COX5B,COX7A2L,CREG2,CRIM1,CRIPT,CSRNP3,CTNNA2,CXCR4,CYP1B1,CYP1B1-AS1,CYP26B1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DGUOK,DHRS9,DHX57,DKFZp686O1327,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP2,DYNC2LI1,DYSF,EDAR,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPT1,ERCC3,ERLEC1,ERMN,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM136A,FAM138B,FAM161A,FAM168B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM59B,FAM82A1,FAM98A,FANCL,FAP,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ42351,FMNL2,FNDC4,FOSL2,FOXD4L1,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,G6PC2,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GPAT2,GPD2,GPN1,GPR113,GPR148,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C2,GYPC,HAAO,HADHA,HADHB,HEATR5B,HK2,HNMT,HNRPLL,HS1BP3,HS6ST1,HTRA2,IFIH1,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITGB6,ITPRIPL1,ITSN2,IWS1,KANSL3,KCMF1,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1211L,KIAA1841,KIF3C,KIF5C,KLHL29,KRCC1,KRTCAP3,KYNU,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00486,LIPT1,LMAN2L,LOC100129726,LOC100129961,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505716,LOC100505876,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507334,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC644838,LOC645949,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC728730,LOC728819,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRPPRC,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH7,MARCO,MAT2A,MATN3,MBD5,MCEE,MCFD2,MCM6,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,MFSD2B,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR1301,MIR216A,MIR216B,MIR217,MIR3126,MIR3127,MIR3679,MIR3682,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MIR5696,MIR663B,MITD1,MKI67IP,MMADHC,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYO7B,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NCAPH,NCK2,NCKAP5,NCOA1,NEB,NEURL3,NFU1,NLRC4,NMI,NMS,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NXPH2,OR7E91P,ORC4,OSR1,OST4,OTOF,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PELI1,PEX13,PFN4,PIGF,PKDCC,PKP4,PLA2R1,PLB1,PLEK,PLEKHB2,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTPN18,PTPN4,PTRHD1,PUM2,PUS10,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RANBP2,RASGRP3,RBKS,RBM43,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RNU6-81,RPIA,RPL23AP32,RPL23AP7,RPL31,RPRM,RPS27A,RTKN,RTN4,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCTR,SDC1,SEMA4C,SEMA4F,SEPT10,SERTAD2,SF3B14,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC1A4,SLC20A1,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC3A1,SLC4A10,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA70F,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SOWAHC,SPAST,SPC25,SPDYA,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STEAP3,STK39,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUPT7L,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM178A,TMEM182,TMEM185B,TMEM214,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TP53I3,TPRKB,TRABD2A,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSN,TSPYL6,TTC21B,TTC27,TTC31,TTC32,TTC7A,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UNC50,UNQ6975,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WASH2P,WBP1,WDPCP,WDR33,WDR35,WDR43,WDR54,WDR92,WDSUB1,WTH3DI,XDH,XIRP2,XPO1,YIPF4,YPEL5,YSK4,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZFP36L2,ZNF2,ZNF512,ZNF513,ZNF514,ZNF638,ZRANB3 chr2 170742901 171219237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO3B,UBR3 chr2 170742901 171219237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B,UBR3 chr2 170802029 170802119 Gain and loss Pancreatic cancer SNP array 17952125 UBR3 chr2 17081152 20158289 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ12334,GEN1,KCNS3,MIR4757,MSGN1,NT5C1B,NT5C1B-RDH14,OSR1,RAD51AP2,RDH14,SMC6,TTC32,VSNL1,WDR35 chr2 170856818 170875998 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UBR3 chr2 170881225 171337169 Gain and loss Pancreatic cancer SNP array 17952125 MYO3B,UBR3 chr2 170895344 170895376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBR3 chr2 1 7100000 Loss Basal cell lymphoma Array CGH 16317097 ACP1,ADI1,ALLC,CMPK2,COLEC11,FAM110C,FAM150B,LINC00487,LOC100505964,LOC100506054,LOC150622,LOC339822,LOC400940,LOC727982,LOC730811,MYT1L,PXDN,RNASEH1,RNF144A,RNF144A-AS1,RPS7,RSAD2,SH3YL1,SNTG2,SOX11,TMEM18,TPO,TRAPPC12,TSSC1 chr2 1 7100000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ACP1,ADI1,ALLC,CMPK2,COLEC11,FAM110C,FAM150B,LINC00487,LOC100505964,LOC100506054,LOC150622,LOC339822,LOC400940,LOC727982,LOC730811,MYT1L,PXDN,RNASEH1,RNF144A,RNF144A-AS1,RPS7,RSAD2,SH3YL1,SNTG2,SOX11,TMEM18,TPO,TRAPPC12,TSSC1 chr2 171020258 171053158 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO3B chr2 171048126 171048403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO3B chr2 171054603 171054642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO3B chr2 1711560 2416368 Copy number Schizophrenia BeadStation 500G Genotyping 21923761 LOC730811,MYT1L,PXDN chr2 171166409 171166984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171186813 171186866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO3B chr2 171214273 171260130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171244736 171244815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO3B chr2 171265590 171310248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO3B chr2 171276501 171282500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO3B chr2 171277207 171279323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171277207 171279323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171280107 171282743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171280107 171282743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171284096 171284245 Gain and loss Pancreatic cancer SNP array 17952125 MYO3B chr2 171316467 171317808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171335001 171336500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO3B chr2 171335438 171363727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171347923 171348024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171347923 171348027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171378501 171380500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO3B chr2 171380501 171389000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO3B chr2 171381446 171425900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171381446 171425900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171381446 171425905 Copy number Autism exome sequencing 22495311 MYO3B chr2 1714071 1714124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PXDN chr2 171423536 171423636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO3B chr2 171433885 171434805 Gain and loss Pancreatic cancer SNP array 17952125 MYO3B chr2 171464940 171465040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO3B chr2 171465184 171465285 Gain and loss Pancreatic cancer SNP array 17952125 MYO3B chr2 171493957 171531878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171493957 171531878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO3B chr2 171497770 171498349 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO3B chr2 171498579 171543152 Gain and loss Pancreatic cancer SNP array 17952125 MYO3B chr2 1 71500000 Gain Basal cell lymphoma Array CGH 16317097 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BMP10,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DBIL5P2,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,FAM110C,FAM136A,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPHOSPH10,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NBAS,NCOA1,NFU1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SERTAD2,SF3B14,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,TEX261,TGFA,THADA,THUMPD2,TIA1,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 1 71500000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BMP10,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DBIL5P2,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,FAM110C,FAM136A,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPHOSPH10,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NBAS,NCOA1,NFU1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SERTAD2,SF3B14,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,TEX261,TGFA,THADA,THUMPD2,TIA1,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 171556816 171725289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAD1,LOC100505695,LOC440925,SP5 chr2 171556816 171725289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAD1,LOC100505695,LOC440925,SP5 chr2 171564820 171564920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 171611218 171649139 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505695 chr2 171674077 171913331 Gain and loss Pancreatic cancer SNP array 17952125 GAD1,GORASP2,TLK1 chr2 17167589 17167888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 17167679 17167888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 171712240 171744707 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GAD1 chr2 171752907 171753007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 171811748 171811825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GORASP2 chr2 171888543 171998865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLK1 chr2 171918409 171918509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLK1 chr2 171932953 171933053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLK1 chr2 171939687 171940034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLK1 chr2 171971601 173635342 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CYBRD1,DCAF17,DLX1,DLX2,DYNC1I2,HAT1,ITGA6,METAP1D,METTL8,PDK1,RAPGEF4,RAPGEF4-AS1,SLC25A12,TLK1 chr2 17197720 17197820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 171993283 171995858 Gain and loss Pancreatic cancer SNP array 17952125 TLK1 chr2 171999071 172049806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLK1 chr2 171999071 172049806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLK1 chr2 172005805 172042523 Gain and loss Pancreatic cancer SNP array 17952125 TLK1 chr2 172008854 172008954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLK1 chr2 172012563 172012663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLK1 chr2 172087003 172122883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLK1 chr2 172087003 172122883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLK1 chr2 172096827 172096908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 172116234 172164175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 17216504 17216604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 172199287 172199733 Gain and loss Pancreatic cancer SNP array 17952125 METTL8 chr2 172200725 172200804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METTL8 chr2 172204490 172240144 Gain and loss Pancreatic cancer SNP array 17952125 METTL8 chr2 172217486 173146666 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CYBRD1,DCAF17,DLX1,DLX2,DYNC1I2,HAT1,METAP1D,METTL8,SLC25A12 chr2 172252225 172313176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCAF17,METTL8 chr2 172252225 172313176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCAF17,METTL8 chr2 17225826 17226035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 172269204 172269591 Gain and loss Pancreatic cancer SNP array 17952125 METTL8 chr2 172348869 173066503 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CYBRD1,DLX1,DLX2,DYNC1I2,HAT1,METAP1D,SLC25A12 chr2 172349127 172459000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYBRD1 chr2 172349127 172459000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYBRD1 chr2 172369487 172430433 Gain and loss Pancreatic cancer SNP array 17952125 CYBRD1 chr2 172411630 172411730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYBRD1 chr2 172466388 172576252 Gain and loss Pancreatic cancer SNP array 17952125 DYNC1I2 chr2 172487204 172556845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYNC1I2 chr2 172487204 172556845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYNC1I2 chr2 172540825 172549251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYNC1I2 chr2 172543089 172548631 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DYNC1I2 chr2 172572736 172654009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYNC1I2,SLC25A12 chr2 172572736 172654009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYNC1I2,SLC25A12 chr2 172604482 172674045 Gain and loss Pancreatic cancer SNP array 17952125 DYNC1I2,SLC25A12 chr2 172613764 172618580 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 172614660 172618321 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 172619464 172619564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 172640556 173066503 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DLX1,DLX2,HAT1,METAP1D,SLC25A12 chr2 172651501 172683500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC25A12 chr2 172657715 172662651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A12 chr2 172657715 172662651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A12 chr2 172672413 172675724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A12 chr2 172672413 172675724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A12 chr2 172690377 172771270 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A12 chr2 172692969 172709739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC25A12 chr2 172710901 172717500 Deletion Glioma mate-paired sequence 20126413 SLC25A12 chr2 172712495 172715726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC25A12 chr2 172712606 172715556 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SLC25A12 chr2 172729005 172729092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A12 chr2 172773701 174620600 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDCA7,DLX1,DLX2,HAT1,ITGA6,METAP1D,MLK7-AS1,PDK1,RAPGEF4,RAPGEF4-AS1,ZAK chr2 172775748 172779906 Gain and loss Pancreatic cancer SNP array 17952125 HAT1 chr2 172789674 172792773 Gain and loss Pancreatic cancer SNP array 17952125 HAT1 chr2 1728118 1762327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PXDN chr2 172846266 172846353 Gain and loss Pancreatic cancer SNP array 17952125 HAT1 chr2 172856286 172856341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 172888226 172894350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 METAP1D chr2 172888791 172934093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 METAP1D chr2 172922358 172922422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METAP1D chr2 172942674 172942758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METAP1D chr2 172944235 172944329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METAP1D chr2 1 72949795 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-308K arrays 21546498 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BMP10,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FAM110C,FAM136A,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPHOSPH10,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NBAS,NCOA1,NFU1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SERTAD2,SF3B14,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,TEX261,TGFA,THADA,THUMPD2,TIA1,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 172985802 173025620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 173000392 173079427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 173000392 173079427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 173000560 173079427 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 173000720 173018344 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 173003719 173025391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 173010737 173012713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 173104579 173104679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 173117824 173196509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 173129025 173172108 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 173129025 173172108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 173129025 173172108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 173131125 173131226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 1731475 1731544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PXDN chr2 173176484 173176584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 173244565 173289408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 173246286 173289369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 173248388 173248486 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 173248388 173248487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 173262717 173264481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 173264273 173264374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 17329045 17329651 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 17329045 17329651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 173298122 173806447 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ITGA6,PDK1,RAPGEF4,RAPGEF4-AS1 chr2 173308771 173625867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGA6,PDK1,RAPGEF4,RAPGEF4-AS1 chr2 173308771 173625867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGA6,PDK1,RAPGEF4,RAPGEF4-AS1 chr2 173381534 173381635 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 173420804 173824646 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-311K arrays 21546498 PDK1,RAPGEF4,RAPGEF4-AS1 chr2 173426114 173743122 Gain and loss Pancreatic cancer SNP array 17952125 PDK1,RAPGEF4,RAPGEF4-AS1 chr2 173443141 173443241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDK1 chr2 173470111 178288235 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 AGPS,ATF2,ATP5G3,CDCA7,CHN1,CHRNA1,CIR1,EVX2,GPR155,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,KIAA1715,LOC100130691,LOC285084,LOC375295,MIR10B,MIR1246,MIR3128,MIR4444-1,MIR933,MLK7-AS1,MTX2,NFE2L2,OLA1,RAPGEF4,RAPGEF4-AS1,SCRN3,SP3,SP9,WIPF1,ZAK chr2 173522053 173522153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 17355191 17355271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 173572 207720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 173597167 173597490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAPGEF4-AS1 chr2 17361632 17406276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 173627731 175424186 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDCA7,CIR1,GPR155,LOC285084,MLK7-AS1,OLA1,RAPGEF4,SCRN3,SP3,SP9,ZAK chr2 173635342 175552874 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CDCA7,CIR1,GPR155,LOC285084,MLK7-AS1,OLA1,RAPGEF4,SCRN3,SP3,SP9,WIPF1,ZAK chr2 173648688 173840979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAPGEF4 chr2 173648688 173840979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAPGEF4 chr2 173663208 173663308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAPGEF4 chr2 173692579 173692678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAPGEF4 chr2 173745738 173778122 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAPGEF4 chr2 173766077 173917378 Gain and loss Pancreatic cancer SNP array 17952125 RAPGEF4 chr2 17387192 17387798 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 173876579 173876630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAPGEF4 chr2 173880381 173913621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAPGEF4 chr2 173906830 173907150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAPGEF4 chr2 173927807 173941965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZAK chr2 173927807 173941965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZAK chr2 173961340 173961394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZAK chr2 1739614 1739999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PXDN chr2 173975594 175000572 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDCA7,MLK7-AS1,OLA1,SP3,ZAK chr2 173987865 173988749 Gain and loss Pancreatic cancer SNP array 17952125 ZAK chr2 174004323 174004786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZAK chr2 174035880 174039073 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZAK chr2 174045055 174059226 Gain and loss Pancreatic cancer SNP array 17952125 ZAK chr2 174058839 174059336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZAK chr2 174058839 174059336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZAK chr2 174099378 174099478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLK7-AS1,ZAK chr2 174121479 174122047 Gain and loss Pancreatic cancer SNP array 17952125 MLK7-AS1,ZAK chr2 174125122 174125222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLK7-AS1,ZAK chr2 174150000 242683000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDCA7,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CIR1,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,EVX2,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR155,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIAA1715,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100130691,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC285084,LOC348761,LOC375295,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MIR933,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDE11A,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RBM45,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCRN3,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SP3,SP9,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTC30A,TTC30B,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WIPF1,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 174176132 174176597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 174249122 174254919 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 17425268 17425368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 17429839 17431165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 174301193 174305814 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 174346100 174346200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 174393722 174394738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 174445501 174445601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 174467945 174468045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 174481505 174538676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 174481505 174538676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 17448609 17454074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 174532979 174533074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 174536157 174581097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 174551032 174551172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 174598766 174655560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 1 74603719 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-317K arrays 21546498 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DDX1,DGUOK,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FAM110C,FAM136A,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MORN2,MPHOSPH10,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SERTAD2,SF3B14,SFXN5,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD5,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STAMBP,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,TET3,TEX261,TGFA,THADA,THUMPD2,TIA1,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TPRKB,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 174645421 174821611 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SP3 chr2 174645421 174821611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP3 chr2 174674180 174707290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 174679995 174680363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 17469953 17471615 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 174733276 174733768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 174762684 174938872 Gain and loss Pancreatic cancer SNP array 17952125 OLA1,SP3 chr2 174798872 174799191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SP3 chr2 174813119 174813436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP3 chr2 174837852 174837955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 174899001 174911000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 174900590 174945459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OLA1 chr2 174907920 174911466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 174908847 174910397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 174921126 174968689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLA1 chr2 174921126 174968689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLA1 chr2 174930380 174930697 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 174952059 174952220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLA1 chr2 174955115 174955216 Gain and loss Pancreatic cancer SNP array 17952125 OLA1 chr2 174955116 174955216 Gain and loss Pancreatic cancer SNP array 17952125 OLA1 chr2 1749559 1749659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 174958540 174958640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLA1 chr2 17496036 17496084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 174968713 175001974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLA1 chr2 174968713 175001974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLA1 chr2 174987376 174987476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OLA1 chr2 175004621 175060068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OLA1 chr2 175004621 175060068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLA1 chr2 175026108 175027658 Gain and loss Pancreatic cancer SNP array 17952125 OLA1 chr2 175038387 175085950 Gain and loss Pancreatic cancer SNP array 17952125 OLA1 chr2 175074926 175075289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OLA1 chr2 175085974 175119234 Gain and loss Pancreatic cancer SNP array 17952125 OLA1 chr2 175124999 175177315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 175130940 175131046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 175132549 175255873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIR1,LOC285084,SP9 chr2 175132549 175255873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIR1,LOC285084,SP9 chr2 175167565 175167818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 175187074 177201863 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ATF2,ATP5G3,CHN1,CHRNA1,CIR1,EVX2,GPR155,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,KIAA1715,LOC285084,MIR10B,MIR933,MTX2,SCRN3,SP9,WIPF1 chr2 175192187 175192550 Gain and loss Pancreatic cancer SNP array 17952125 LOC285084 chr2 175198747 175198847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 175215602 175216664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CIR1 chr2 175246248 175266623 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CIR1,SCRN3 chr2 175248201 175248307 Gain and loss Pancreatic cancer SNP array 17952125 CIR1 chr2 175249810 175324816 Gain and loss Pancreatic cancer SNP array 17952125 CIR1,GPR155,SCRN3 chr2 175264629 175264688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCRN3 chr2 175274834 175306347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR155,SCRN3 chr2 175292774 175293811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCRN3 chr2 175320571 175337427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR155 chr2 175320571 175337427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR155 chr2 175328780 175328880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR155 chr2 175372337 175578361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WIPF1 chr2 175372337 175578361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WIPF1 chr2 175385482 175385582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 175388489 175388553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 75400000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FAM110C,FAM136A,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LOXL3,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL33,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POLE4,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFXN5,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD5,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STAMBP,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TET3,TEX261,TGFA,THADA,THUMPD2,TIA1,TLX2,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TPRKB,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 175410143 175410553 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 175437832 175454677 Gain and loss Pancreatic cancer SNP array 17952125 WIPF1 chr2 175449694 175449794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WIPF1 chr2 175473519 175473619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WIPF1 chr2 175489749 175695461 Gain and loss Pancreatic cancer SNP array 17952125 CHN1,CHRNA1,WIPF1 chr2 175550777 175550871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 17555331 17575162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 17555331 17575162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 17555467 17563187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 175595188 175595293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 175602743 175602851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 175608614 176241679 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATF2,ATP5G3,CHN1,CHRNA1,MIR933 chr2 175618953 175619337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHRNA1 chr2 175645224 175741180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHN1 chr2 175645224 175741180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHN1 chr2 175668038 175668129 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175668038 175668130 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175691622 175691677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHN1 chr2 175712449 175712553 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175712945 175713045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHN1 chr2 175719695 175719770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHN1 chr2 175720004 175720111 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175720006 175720112 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175740607 175740683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHN1 chr2 175749237 175754736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHN1 chr2 175749237 175754736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHN1 chr2 175749467 175749560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHN1 chr2 175762487 175858422 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175798519 175798614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHN1 chr2 17583874 17701766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD51AP2 chr2 17583874 17701766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD51AP2 chr2 17585288 17701186 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAD51AP2 chr2 175854985 175900298 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHN1 chr2 175866736 175866825 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175866738 175866824 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175866782 176072498 Amplification or deletion Cancer Array CGH 17440070 ATF2,ATP5G3,CHN1,MIR933 chr2 175868381 175874842 Gain and loss Pancreatic cancer SNP array 17952125 CHN1 chr2 175903347 175903446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176023427 176023524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATF2 chr2 176052901 176062800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 176054915 176060967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 176142317 176167393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 176147859 176184667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 176160970 176194494 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 176165650 176190733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 176201451 178598366 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AGPS,EVX2,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,KIAA1715,LOC100130691,LOC375295,MIR10B,MIR1246,MIR3128,MIR4444-1,MTX2,NFE2L2,PDE11A,TTC30A,TTC30B chr2 176213376 176213449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176230325 176230420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176248691 176293407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 1763190 2305323 Gain and loss Pancreatic cancer SNP array 17952125 MYT1L chr2 176345733 176346062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 176383762 176388492 Indels Normal Affymetrix and Illumina arrays 20811451 NOT_FOUND chr2 176384801 176388600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 176387677 176387742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176417722 176417976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 17643598 17759331 Gain and loss Pancreatic cancer SNP array 17952125 RAD51AP2,VSNL1 chr2 176439334 176439434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176459827 177072263 LOH Normal High-resolution SNP genotyping 21211785 EVX2,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,KIAA1715,MIR10B chr2 176462983 177072263 LOH Normal High-resolution SNP genotyping 21211785 EVX2,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,KIAA1715,MIR10B chr2 176496896 176584128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176496896 176584128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176503046 176503146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176506582 176507065 Duplication Mesomelic dysplasia Kantaputra 244K whole-genome oligonucleotide array 20648051 NOT_FOUND chr2 176518119 176518235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 176544739 179048787 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AGPS,EVX2,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,KIAA1715,LOC100130691,LOC375295,MIR10B,MIR1246,MIR3128,MIR4444-1,MTX2,NFE2L2,PDE11A,RBM45,TTC30A,TTC30B chr2 176566987 177251378 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EVX2,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,KIAA1715,MIR10B,MTX2 chr2 176593930 176594030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176596615 176774295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176599860 176599960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176615917 176692525 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 176639501 176752000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 176653081 176656936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176653081 176656936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176665777 176668912 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 176665777 176668912 Gain or loss Cancer - 20668451 NOT_FOUND chr2 176665777 176668912 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 176665777 176668912 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 176665777 176668912 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 176665777 176668912 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 176665778 176668912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176665778 176668912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176672704 176674167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176672704 176674167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176677495 176682562 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 176677495 176682562 Gain or loss Cancer - 20668451 NOT_FOUND chr2 176677495 176682562 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 176677495 176682562 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 176677495 176682562 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 176677495 176682562 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 176680330 176682562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176680330 176682562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176689738 176692915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176689738 176692915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 7669046 12143004 Copy number Normal Quantitative Real-Time PCR 17666543 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr2 176695334 176697770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176695334 176697770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176700801 176702739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176702714 176704977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176702714 176704977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176723277 176723386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176724359 176726197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176724359 176726197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176728090 176728298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176728358 176728525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176728360 176728399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176732998 176733081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176733865 176746072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176733865 176746072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176737050 176746072 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 176761001 176763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 176761553 176763881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176761553 176763881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176770342 176774011 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 176783039 176785307 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 176790037 176790995 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176791000 186391000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 AGPS,CCDC141,CERKL,CWC22,DFNB59,DNAJC10,DUSP19,EVX2,FKBP7,FRZB,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,ITGA4,KIAA1715,LOC100130691,LOC375295,MIR10B,MIR1246,MIR1258,MIR3128,MIR4437,MIR4444-1,MIR548N,MTX2,NCKAP1,NEUROD1,NFE2L2,NUP35,OSBPL6,PDE11A,PDE1A,PLEKHA3,PPP1R1C,PRKRA,RBM45,SESTD1,SSFA2,TTC30A,TTC30B,TTN,TTN-AS1,UBE2E3,ZNF385B,ZNF804A chr2 176797591 176799823 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176807007 176809933 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176812595 176815031 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176815338 176896428 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA1715 chr2 176818062 176820000 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176819984 176822235 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176840538 176840647 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176841620 176843458 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176842001 176843000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA1715 chr2 176842383 176910997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1715 chr2 176842383 176910997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1715 chr2 176843215 176843304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1715 chr2 176854312 176863333 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1715 chr2 176860589 177126521 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EVX2,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,KIAA1715,MIR10B chr2 176878814 176881142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 176884001 176885000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 176891143 176891487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 176911781 176911848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 176932364 176933067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 176956401 176956550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 176959651 177028168 Gain and loss Pancreatic cancer SNP array 17952125 HOXD-AS2,HOXD10,HOXD11,HOXD12,HOXD13,HOXD4,HOXD8,HOXD9,MIR10B chr2 176971901 176982300 Deletion Glioma mate-paired sequence 20126413 HOXD10,HOXD11 chr2 176972829 176981828 Deletion Normal TaqMan assays 20972442 HOXD10,HOXD11 chr2 176973781 176980910 Duplication Mesomelic dysplasia Kantaputra 244K whole-genome oligonucleotide array 20648051 HOXD11 chr2 176973862 176980178 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 HOXD11 chr2 176973862 176980178 Duplication Mesomelic dysplasia Kantaputra 244K whole-genome oligonucleotide array 20648051 HOXD11 chr2 176973862 176980178 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 HOXD11 chr2 176973888 176980286 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HOXD11 chr2 176973956 176980168 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HOXD11 chr2 176974001 176975750 Copy number Normal ReadDepth: A Parallel R Package 21305028 HOXD11 chr2 176975751 176979000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 176976003 176985747 Substitutions and indels small cell lung cancer array-CGH 20016488 HOXD10 chr2 176985080 176986597 Duplication Mesomelic dysplasia Kantaputra 244K whole-genome oligonucleotide array 20648051 NOT_FOUND chr2 176990547 241744935 Substitutions and indels small cell lung cancer array-CGH 20016488 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGPS,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOLL,BZW1,C2orf47,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP20A1,CYP27A1,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HECW2,HES6,HIBCH,HJURP,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD3,HOXD4,HOXD8,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100130691,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC348761,LOC375295,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTX2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PAX3,PCGEM1,PDE11A,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RBM45,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK36,STRADB,SUMO1,TFPI,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTC30A,TTC30B,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 177028550 177028619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177069912 177117367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 177071583 177106952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 177074079 177103764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 177085506 177108845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 17708562 17844943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VSNL1 chr2 177086636 177100522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 177117773 178337649 LOH Normal High-resolution SNP genotyping 21211785 AGPS,HNRNPA3,LOC100130691,LOC375295,MIR1246,MIR3128,MIR4444-1,MTX2,NFE2L2 chr2 177147875 177147975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTX2 chr2 177160075 177162344 Amplification or deletion Cancer Array CGH 17440070 MTX2 chr2 177163095 177163195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTX2 chr2 177166080 177166178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTX2 chr2 177174627 177176860 Amplification or deletion Cancer Array CGH 17440070 MTX2 chr2 1771894 2314052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYT1L chr2 1771894 2314052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYT1L chr2 177202814 177210905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177202814 177210905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177225962 177226062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177276270 177276370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177310814 177395162 Gain aortic dissecting aneurysms Array-CGH 22263138 NOT_FOUND chr2 177310814 177395162 Gain Stenocardia MACArray Karyo 14K BAC-chips 21860640 NOT_FOUND chr2 177310814 177395162 Gain Vasospasm MACArray Karyo 14K BAC-chips 21860640 NOT_FOUND chr2 177320075 177328166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 177324009 177324109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177336150 177827542 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC375295,MIR1246 chr2 177342108 177342602 Duplication Mesomelic dysplasia Kantaputra 244K whole-genome oligonucleotide array 20648051 NOT_FOUND chr2 177424969 177425069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177442764 177442799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177459536 177459636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177459850 177493517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR1246 chr2 177476630 177827542 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC375295 chr2 177499658 177500061 Gain and loss Pancreatic cancer SNP array 17952125 LOC375295 chr2 177502959 177503064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177538937 177552656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 177541324 177586040 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 177573303 177573386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177620220 177620325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 177645444 178208735 LOH Normal High-resolution SNP genotyping 21211785 HNRNPA3,LOC100130691,MIR3128,MIR4444-1,NFE2L2 chr2 17766709 17856688 Gain and loss Pancreatic cancer SNP array 17952125 SMC6,VSNL1 chr2 177700000 180400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGPS,CCDC141,DFNB59,FKBP7,HNRNPA3,LOC100130691,MIR3128,MIR4444-1,MIR548N,NFE2L2,OSBPL6,PDE11A,PLEKHA3,PRKRA,RBM45,SESTD1,TTC30A,TTC30B,TTN,TTN-AS1,ZNF385B chr2 177700000 180400000 Copy number Schizophrenia from references 18923514 AGPS,CCDC141,DFNB59,FKBP7,HNRNPA3,LOC100130691,MIR3128,MIR4444-1,MIR548N,NFE2L2,OSBPL6,PDE11A,PLEKHA3,PRKRA,RBM45,SESTD1,TTC30A,TTC30B,TTN,TTN-AS1,ZNF385B chr2 177700000 180400000 Deletion Schizophrenia high-density microarrays 22241247 AGPS,CCDC141,DFNB59,FKBP7,HNRNPA3,LOC100130691,MIR3128,MIR4444-1,MIR548N,NFE2L2,OSBPL6,PDE11A,PLEKHA3,PRKRA,RBM45,SESTD1,TTC30A,TTC30B,TTN,TTN-AS1,ZNF385B chr2 177700000 182700000 Deletion Mental retardation \N 21062444 AGPS,CCDC141,CERKL,CWC22,DFNB59,FKBP7,HNRNPA3,ITGA4,LOC100130691,MIR1258,MIR3128,MIR4437,MIR4444-1,MIR548N,NEUROD1,NFE2L2,OSBPL6,PDE11A,PLEKHA3,PRKRA,RBM45,SESTD1,TTC30A,TTC30B,TTN,TTN-AS1,UBE2E3,ZNF385B chr2 177700000 197100000 Deletion Facial dysmorphism - 20548289 AGPS,ANKAR,ASNSD1,C2orf88,CALCRL,CCDC141,CERKL,COL3A1,COL5A2,CWC22,DFNB59,DIRC1,DNAH7,DNAJC10,DUSP19,FAM171B,FKBP7,FRZB,FSIP2,GLS,GULP1,HECW2,HIBCH,HNRNPA3,INPP1,ITGA4,ITGAV,LOC100130691,MFSD6,MIR1245A,MIR1245B,MIR1258,MIR3128,MIR3129,MIR3606,MIR4437,MIR4444-1,MIR548N,MIR561,MSTN,MYO1B,NAB1,NABP1,NCKAP1,NEUROD1,NFE2L2,NUP35,ORMDL1,OSBPL6,OSGEPL1,PCGEM1,PDE11A,PDE1A,PLEKHA3,PMS1,PPP1R1C,PRKRA,RBM45,SDPR,SESTD1,SLC39A10,SLC40A1,SSFA2,STAT1,STAT4,STK17B,TFPI,TMEFF2,TMEM194B,TTC30A,TTC30B,TTN,TTN-AS1,UBE2E3,WDR75,ZC3H15,ZNF385B,ZNF804A,ZSWIM2 chr2 177700000 197100000 Deletion Mental retardation - 20548289 AGPS,ANKAR,ASNSD1,C2orf88,CALCRL,CCDC141,CERKL,COL3A1,COL5A2,CWC22,DFNB59,DIRC1,DNAH7,DNAJC10,DUSP19,FAM171B,FKBP7,FRZB,FSIP2,GLS,GULP1,HECW2,HIBCH,HNRNPA3,INPP1,ITGA4,ITGAV,LOC100130691,MFSD6,MIR1245A,MIR1245B,MIR1258,MIR3128,MIR3129,MIR3606,MIR4437,MIR4444-1,MIR548N,MIR561,MSTN,MYO1B,NAB1,NABP1,NCKAP1,NEUROD1,NFE2L2,NUP35,ORMDL1,OSBPL6,OSGEPL1,PCGEM1,PDE11A,PDE1A,PLEKHA3,PMS1,PPP1R1C,PRKRA,RBM45,SDPR,SESTD1,SLC39A10,SLC40A1,SSFA2,STAT1,STAT4,STK17B,TFPI,TMEFF2,TMEM194B,TTC30A,TTC30B,TTN,TTN-AS1,UBE2E3,WDR75,ZC3H15,ZNF385B,ZNF804A,ZSWIM2 chr2 177711688 177711777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177721443 177721482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177767957 177768069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177785668 177796931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177785668 177796931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177789932 177790032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177803285 177837663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177803759 177837550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177803759 177837550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177828949 177829038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 177840603 178064542 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 177854652 177854752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177856377 177856523 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 177856484 177965661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177856484 177965661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177856721 177857706 Duplication Mesomelic dysplasia Kantaputra 244K whole-genome oligonucleotide array 20648051 NOT_FOUND chr2 177859660 177859760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177885218 177885328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 177885218 177885329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 177886707 177886807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 177903035 177914085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 177918834 177918935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 177920546 178082932 Gain and loss Pancreatic cancer SNP array 17952125 HNRNPA3,MIR4444-1 chr2 177933220 178686495 LOH Normal High-resolution SNP genotyping 21211785 AGPS,HNRNPA3,LOC100130691,MIR3128,MIR4444-1,NFE2L2,PDE11A,TTC30A,TTC30B chr2 177965731 178112409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRNPA3,MIR4444-1,NFE2L2 chr2 177965731 178112409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRNPA3,MIR4444-1,NFE2L2 chr2 177976091 178464943 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGPS,HNRNPA3,LOC100130691,MIR3128,MIR4444-1,NFE2L2,TTC30B chr2 17798658 17829460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VSNL1 chr2 17798658 17829460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VSNL1 chr2 177995884 177996297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 178000000 180600000 Deletion Schizophrenia CGH screen 19348701 AGPS,CCDC141,DFNB59,FKBP7,HNRNPA3,LOC100130691,MIR3128,MIR4444-1,MIR548N,NFE2L2,OSBPL6,PDE11A,PLEKHA3,PRKRA,RBM45,SESTD1,TTC30A,TTC30B,TTN,TTN-AS1,ZNF385B chr2 178000000 180600000 Loss Cardiomyopathy references 17576883 AGPS,CCDC141,DFNB59,FKBP7,HNRNPA3,LOC100130691,MIR3128,MIR4444-1,MIR548N,NFE2L2,OSBPL6,PDE11A,PLEKHA3,PRKRA,RBM45,SESTD1,TTC30A,TTC30B,TTN,TTN-AS1,ZNF385B chr2 178018943 178064901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 178032696 178032796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 178036095 178036196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 1780650 1781003 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 1780683 1781006 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 178083010 178228512 Gain and loss Pancreatic cancer SNP array 17952125 HNRNPA3,LOC100130691,MIR3128,NFE2L2 chr2 178123219 178125988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFE2L2 chr2 178123219 178125988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFE2L2 chr2 178145504 178145604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 178149219 178149302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100130691 chr2 178187272 178191940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100130691 chr2 178187272 178191940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100130691 chr2 178196225 178681312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGPS,LOC100130691,PDE11A,TTC30A,TTC30B chr2 178196225 178681312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGPS,LOC100130691,PDE11A,TTC30A,TTC30B chr2 178201966 178202423 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100130691 chr2 178241001 178242998 Gain and loss Pancreatic cancer SNP array 17952125 LOC100130691 chr2 178306939 178308975 Gain and loss Pancreatic cancer SNP array 17952125 AGPS chr2 17830762 18004709 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GEN1,MSGN1,SMC6,VSNL1 chr2 178318319 178798573 Gain and loss Pancreatic cancer SNP array 17952125 AGPS,PDE11A,TTC30A,TTC30B chr2 178347774 178347892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGPS chr2 178351468 178351682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGPS chr2 17836501 18038900 Copy number Normal ReadDepth: A Parallel R Package 21305028 GEN1,MSGN1,SMC6,VSNL1 chr2 178385551 178957757 LOH Normal High-resolution SNP genotyping 21211785 AGPS,PDE11A,TTC30A,TTC30B chr2 178402727 178402827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGPS chr2 178439429 178474846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 178449251 178450351 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 178449660 178449760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 178464943 179765452 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC141,DFNB59,FKBP7,MIR548N,OSBPL6,PDE11A,PLEKHA3,PRKRA,RBM45,TTC30A,TTN,TTN-AS1 chr2 17851060 17851159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMC6 chr2 178516147 178560639 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE11A chr2 178543595 178543831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE11A chr2 178543816 178544031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE11A chr2 178544658 178544725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE11A chr2 17855796 17855896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMC6 chr2 17856805 17885058 Gain and loss Pancreatic cancer SNP array 17952125 SMC6 chr2 178570396 178571174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE11A chr2 178611875 178611977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE11A chr2 17861267 17861848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SMC6 chr2 17861267 17861848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMC6 chr2 178625945 178645145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE11A chr2 178676346 178676461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE11A chr2 178685428 178702626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE11A chr2 178685428 178702626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE11A chr2 178687657 178688411 Gain and loss Pancreatic cancer SNP array 17952125 PDE11A chr2 178698468 178698547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE11A chr2 178715521 178715624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE11A chr2 178729136 178729238 Gain and loss Pancreatic cancer SNP array 17952125 PDE11A chr2 178767454 178969119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE11A chr2 178767454 178969119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE11A chr2 178779829 178779929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE11A chr2 178802781 178819887 Gain and loss Pancreatic cancer SNP array 17952125 PDE11A chr2 178829 915588 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ACP1,FAM150B,LOC339822,SH3YL1,TMEM18 chr2 178832780 178832886 Gain and loss Pancreatic cancer SNP array 17952125 PDE11A chr2 178832782 178832879 Gain and loss Pancreatic cancer SNP array 17952125 PDE11A chr2 178835758 180417152 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC141,DFNB59,FKBP7,MIR548N,OSBPL6,PDE11A,PLEKHA3,PRKRA,RBM45,SESTD1,TTN,TTN-AS1,ZNF385B chr2 178851618 178851650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE11A chr2 178884734 179086380 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL6,PDE11A,RBM45 chr2 178899897 178934066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE11A chr2 178941243 178973989 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE11A chr2 178991420 179847067 LOH Normal High-resolution SNP genotyping 21211785 CCDC141,DFNB59,FKBP7,MIR548N,OSBPL6,PLEKHA3,PRKRA,RBM45,TTN,TTN-AS1 chr2 179004297 179005260 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 179004396 179024110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 179004396 179024110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 179004449 179005231 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 179004449 242951149 Copy number Biliary cancer Agilent CGH platform 20360734 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 179004449 242951149 Copy number Breast cancer Agilent CGH platform 20360734 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 179004449 242951149 Copy number Coronary artery disease Agilent CGH platform 20360734 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 179004449 242951149 Copy number Crohn's disease Agilent CGH platform 20360734 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 179004449 242951149 Copy number Hypertension Agilent CGH platform 20360734 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 179004449 242951149 Copy number Rheumatoid arthritis Agilent CGH platform 20360734 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 179004449 242951149 Copy number Type 1 diabetes Agilent CGH platform 20360734 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 179004449 242951149 Copy number Type 2 diabetes Agilent CGH platform 20360734 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC141,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CERKL,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DFNB59,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FKBP7,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGA4,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1258,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4437,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NEUROD1,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSBPL6,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHA3,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SESTD1,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TTN,TTN-AS1,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF385B,ZNF804A,ZSWIM2 chr2 179005228 179009117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 179009293 179014582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 179009677 179743633 LOH Normal High-resolution SNP genotyping 21211785 CCDC141,DFNB59,FKBP7,MIR548N,OSBPL6,PLEKHA3,PRKRA,TTN,TTN-AS1 chr2 179011517 179011895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 17901243 17901343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMC6 chr2 179014677 179016238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 179016168 179016393 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 179016357 179017393 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 179017997 179222014 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 OSBPL6 chr2 179020558 179023212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 179023187 179023364 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 179023385 179023938 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 179024409 179034363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 179024409 179034363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 179038267 179051568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 179038267 179051568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 179053445 179078026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBPL6 chr2 179053445 179078026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL6 chr2 179098962 179380395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DFNB59,FKBP7,MIR548N,OSBPL6,PLEKHA3,PRKRA chr2 179098962 179380395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DFNB59,FKBP7,MIR548N,OSBPL6,PLEKHA3,PRKRA chr2 179111125 179111239 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL6 chr2 179111125 179111241 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL6 chr2 179112101 179245195 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OSBPL6 chr2 179121657 179141264 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL6 chr2 179151463 179256105 Loss Autism qPCR 20531469 MIR548N,OSBPL6 chr2 179155534 179168829 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL6 chr2 179170867 179195296 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL6 chr2 17919414 17919989 Gain and loss Pancreatic cancer SNP array 17952125 SMC6 chr2 179216223 179497656 Gain and loss Pancreatic cancer SNP array 17952125 DFNB59,FKBP7,MIR548N,OSBPL6,PLEKHA3,PRKRA,TTN,TTN-AS1 chr2 17922595 17977705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GEN1,SMC6 chr2 17922595 17977705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GEN1,SMC6 chr2 17923426 17977705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GEN1,SMC6 chr2 179234579 179433748 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DFNB59,FKBP7,MIR548N,OSBPL6,PLEKHA3,PRKRA,TTN,TTN-AS1 chr2 179278601 179309359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548N,PRKRA chr2 1792886 2335045 Copy number Schizophrenia Illumina GoldenGate assay 21923761 LOC730811,MYT1L chr2 1792886 2335045 Deletion Schizophrenia References 21956041 LOC730811,MYT1L chr2 1792886 2335045 Duplication or deletion Attention deficit hyperactivity disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LOC730811,MYT1L chr2 1792886 2335045 Duplication or deletion Chronic motor tic disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LOC730811,MYT1L chr2 1792886 2335045 Duplication or deletion Schizophrenia FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 LOC730811,MYT1L chr2 179407145 179623031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548N,TTN,TTN-AS1 chr2 179407145 179623031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548N,TTN,TTN-AS1 chr2 179422541 179422631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548N,TTN,TTN-AS1 chr2 1794600 2812099 LOH Normal High-resolution SNP genotyping 21211785 LOC730811,MYT1L chr2 179521624 179521683 Gain and loss Pancreatic cancer SNP array 17952125 MIR548N,TTN chr2 179522853 179575184 Gain and loss Pancreatic cancer SNP array 17952125 MIR548N,TTN chr2 179551932 179552106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTN chr2 179555008 179586892 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTN chr2 179624294 179624372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTN chr2 179633883 179633983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTN chr2 179637091 179637170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTN chr2 179681776 179837491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC141 chr2 179681776 179837491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC141 chr2 179698509 179698609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC141 chr2 179747406 179747480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC141 chr2 179767206 179779006 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CCDC141 chr2 179768355 179791457 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CCDC141 chr2 179775437 179787389 Copy number Normal Birdsuite, version 1.5.2 22087296 CCDC141 chr2 179775437 179787389 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CCDC141 chr2 179775437 179787389 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CCDC141 chr2 179799538 179955005 Gain and loss Pancreatic cancer SNP array 17952125 CCDC141 chr2 179813608 179813702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC141 chr2 179815770 179815870 Gain and loss Pancreatic cancer SNP array 17952125 CCDC141 chr2 179816297 179861017 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC141 chr2 17982344 17983497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 179860363 179860463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC141 chr2 179863721 179945221 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CCDC141 chr2 179863721 179945221 Copy number gain Normal High-resolution SNP genotyping 21211785 CCDC141 chr2 179863721 179950868 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CCDC141 chr2 179863721 179950868 Copy number gain Normal High-resolution SNP genotyping 21211785 CCDC141 chr2 179882700 179914784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC141 chr2 179882975 179919166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC141 chr2 179883094 179910330 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC141 chr2 179884531 179911274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC141 chr2 179885227 179921224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC141 chr2 179885403 179909288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC141 chr2 1798961 1825686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYT1L chr2 17999220 17999310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 180014954 180434477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SESTD1,ZNF385B chr2 180014954 180434477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SESTD1,ZNF385B chr2 18010311 18010411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 180119664 180130418 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SESTD1 chr2 180123762 180123862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SESTD1 chr2 180126456 180130382 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SESTD1 chr2 180126456 180130382 Loss Normal Birdsuite, version 1.5.2 22087296 SESTD1 chr2 180127987 180129744 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 SESTD1 chr2 180132226 180266503 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 180196029 180217699 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 18020695 18035851 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 180312572 182441315 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CERKL,CWC22,ITGA4,MIR1258,MIR4437,UBE2E3,ZNF385B chr2 180321500 180321590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180337693 180337788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180357243 180357343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180363883 180363983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 18037156 18056737 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 180387223 180387647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF385B chr2 180394645 180394745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180396871 180396971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180400000 182700000 Copy number Normal - 21701786 CERKL,CWC22,ITGA4,MIR1258,MIR4437,NEUROD1,UBE2E3,ZNF385B chr2 180400000 182700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CERKL,CWC22,ITGA4,MIR1258,MIR4437,NEUROD1,UBE2E3,ZNF385B chr2 180432882 180432982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180433808 180433880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF385B chr2 180486054 180486139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180486899 180486999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180504484 180504882 Gain and loss Pancreatic cancer SNP array 17952125 ZNF385B chr2 180507373 180507510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF385B chr2 180511652 180511752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180517848 180580085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF385B chr2 180517848 180580085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF385B chr2 180520073 180552982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF385B chr2 1805545 1805602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYT1L chr2 180612251 180612336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180624634 180624771 Gain and loss Pancreatic cancer SNP array 17952125 ZNF385B chr2 180624635 180624769 Gain and loss Pancreatic cancer SNP array 17952125 ZNF385B chr2 180635110 180683692 Gain and loss Pancreatic cancer SNP array 17952125 ZNF385B chr2 180649134 180649234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385B chr2 180775319 180775408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 180811518 180811618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CWC22 chr2 180826087 181108077 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CWC22 chr2 18085353 18085480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNS3 chr2 180956677 180956777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 180975003 185886020 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CERKL,DNAJC10,DUSP19,FRZB,ITGA4,MIR4437,NCKAP1,NEUROD1,NUP35,PDE1A,PPP1R1C,SSFA2,UBE2E3,ZNF804A chr2 181000539 181000601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1810670 1810770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYT1L chr2 181108077 191034125 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKAR,ASNSD1,C2orf88,CALCRL,CERKL,COL3A1,COL5A2,DIRC1,DNAJC10,DUSP19,FAM171B,FRZB,FSIP2,GULP1,ITGA4,ITGAV,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR4437,MIR561,MSTN,NCKAP1,NEUROD1,NUP35,ORMDL1,OSGEPL1,PDE1A,PMS1,PPP1R1C,SLC40A1,SSFA2,TFPI,UBE2E3,WDR75,ZC3H15,ZNF804A,ZSWIM2 chr2 181111264 181111364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 181143481 181143581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 181162153 181162876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 1812052 1812603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYT1L chr2 181335239 181335339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 181371891 181372072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 181371971 181372071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 18143500 18143624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 18147338 19689362 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 MIR4757,NT5C1B,NT5C1B-RDH14,OSR1,RDH14 chr2 181502502 181520839 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 181553345 181636413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 181553345 181636413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 181582398 181583058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 181588367 181588461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 181634073 181634394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 181670848 181753656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 181736479 181736579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 181880776 181880952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2E3 chr2 181913199 181913299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2E3 chr2 18193250 19717761 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4757,NT5C1B,NT5C1B-RDH14,OSR1,RDH14 chr2 181936808 181936908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 181937847 181937881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182018378 182018478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182029864 182110711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182029864 182110711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182054311 182055280 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 182059343 182059413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182064217 182064531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 182095075 182129011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 182104981 182105505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182109195 182109557 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 182109644 182230079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4437 chr2 182109644 182230079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4437 chr2 182114321 182114369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182118264 182148551 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 182146717 182226420 Gain and loss Pancreatic cancer SNP array 17952125 MIR4437 chr2 182163022 182173546 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR4437 chr2 182228417 182347239 Gain and loss Pancreatic cancer SNP array 17952125 ITGA4 chr2 182249440 182253626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182249440 182253626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182250811 182250911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182250972 182251342 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 182261959 182262202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182262066 182262166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182262183 182262391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182267679 182829084 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-351K arrays 21546498 CERKL,ITGA4,NEUROD1,PPP1R1C,SSFA2 chr2 182267679 182836937 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-315K arrays 21546498 CERKL,ITGA4,NEUROD1,PPP1R1C,SSFA2 chr2 182271501 182275600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 182273486 182273813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 182285183 182285283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182300697 182301009 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 182306097 182306192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182311578 182311687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182366701 182370760 Gain and loss Pancreatic cancer SNP array 17952125 ITGA4 chr2 182402964 182403064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CERKL chr2 182436724 182436824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CERKL chr2 1 82462227 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-361K arrays 21546498 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POLE4,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFXN5,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STAMBP,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TET3,TEX261,TGFA,THADA,THUMPD2,TIA1,TLX2,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TPRKB,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 182464927 182503710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CERKL chr2 182464927 182503710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CERKL chr2 182491504 182491733 Gain Autism 1M Ailent CGH whole-genome array 21865298 CERKL chr2 182527212 182703168 Deletion Intellectual disability 100k SNP Array 21811512 NEUROD1 chr2 182534250 182535459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182545315 182545404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEUROD1 chr2 182549221 182549314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182558840 182704370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182558840 182704370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182561451 183231793 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PDE1A,PPP1R1C,SSFA2 chr2 182563201 182567500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 182564926 182565889 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 182564926 182565889 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 182565160 182565842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 182565161 182565820 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 182582101 182620971 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 182621794 182621884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182621794 182621909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 182651550 182652687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 182676110 182820246 Gain and loss Pancreatic cancer SNP array 17952125 PPP1R1C,SSFA2 chr2 182690041 182690126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182700000 189100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CALCRL,DNAJC10,DUSP19,FAM171B,FRZB,FSIP2,ITGAV,NCKAP1,NUP35,PDE1A,PPP1R1C,SSFA2,TFPI,ZC3H15,ZNF804A,ZSWIM2 chr2 182700000 189100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CALCRL,DNAJC10,DUSP19,FAM171B,FRZB,FSIP2,ITGAV,NCKAP1,NUP35,PDE1A,PPP1R1C,SSFA2,TFPI,ZC3H15,ZNF804A,ZSWIM2 chr2 182700000 197100000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ANKAR,ASNSD1,C2orf88,CALCRL,COL3A1,COL5A2,DIRC1,DNAH7,DNAJC10,DUSP19,FAM171B,FRZB,FSIP2,GLS,GULP1,HECW2,HIBCH,INPP1,ITGAV,MFSD6,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561,MSTN,MYO1B,NAB1,NABP1,NCKAP1,NUP35,ORMDL1,OSGEPL1,PCGEM1,PDE1A,PMS1,PPP1R1C,SDPR,SLC39A10,SLC40A1,SSFA2,STAT1,STAT4,STK17B,TFPI,TMEFF2,TMEM194B,WDR75,ZC3H15,ZNF804A,ZSWIM2 chr2 182700000 197100000 Gain Cancer array-based techniques 21183584 ANKAR,ASNSD1,C2orf88,CALCRL,COL3A1,COL5A2,DIRC1,DNAH7,DNAJC10,DUSP19,FAM171B,FRZB,FSIP2,GLS,GULP1,HECW2,HIBCH,INPP1,ITGAV,MFSD6,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561,MSTN,MYO1B,NAB1,NABP1,NCKAP1,NUP35,ORMDL1,OSGEPL1,PCGEM1,PDE1A,PMS1,PPP1R1C,SDPR,SLC39A10,SLC40A1,SSFA2,STAT1,STAT4,STK17B,TFPI,TMEFF2,TMEM194B,WDR75,ZC3H15,ZNF804A,ZSWIM2 chr2 182700000 242951149 Gain Glioblastoma multiforme aCGH 21080181 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKAR,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CALCRL,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DGKD,DIRC1,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DTYMK,DUSP19,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FAM171B,FARP2,FARSB,FASTKD2,FBXO36,FEV,FLJ43879,FN1,FONG,FRZB,FSIP2,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GLS,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,GULP1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP1,INPP5D,IQCA1,IRS1,ITGAV,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MFSD6,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR561,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MSTN,MTERFD2,MYEOV2,MYL1,MYO1B,NAB1,NABP1,NBEAL1,NCKAP1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NUP35,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,ORMDL1,OSGEPL1,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDCD1,PDE1A,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHM3,PMS1,PNKD,PP14571,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC40A1,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,SSFA2,STAT1,STAT4,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,TFPI,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM194B,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WDR75,WNT10A,WNT6,XRCC5,ZC3H15,ZDBF2,ZFAND2B,ZNF142,ZNF804A,ZSWIM2 chr2 1827001 2553000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC730811,MYT1L chr2 182715428 183095710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE1A,PPP1R1C,SSFA2 chr2 182715428 183095710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE1A,PPP1R1C,SSFA2 chr2 182728217 182728317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 182739055 182739145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 182747715 182750466 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr2 182761917 182762017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SSFA2 chr2 182798632 182799849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 182837268 183212609 Gain and loss Pancreatic cancer SNP array 17952125 PDE1A,PPP1R1C chr2 182848159 182881435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP1R1C chr2 182849912 182866024 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 PPP1R1C chr2 182868682 182868782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1R1C chr2 182887271 182887516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R1C chr2 183000000 189400000 Copy number Autism References 19329560 CALCRL,DNAJC10,DUSP19,FAM171B,FRZB,FSIP2,GULP1,ITGAV,MIR561,NCKAP1,NUP35,PDE1A,TFPI,ZC3H15,ZNF804A,ZSWIM2 chr2 183000000 189400000 Gain Sudden cardiac death CGH 19188705 CALCRL,DNAJC10,DUSP19,FAM171B,FRZB,FSIP2,GULP1,ITGAV,MIR561,NCKAP1,NUP35,PDE1A,TFPI,ZC3H15,ZNF804A,ZSWIM2 chr2 183004532 183004777 Gain and loss Pancreatic cancer SNP array 17952125 PDE1A chr2 183024052 183024366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDE1A chr2 183062956 183063029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDE1A chr2 183064452 183064542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE1A chr2 183211381 183211471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE1A chr2 183263206 183660590 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DNAJC10,PDE1A chr2 183271169 183271263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE1A chr2 183289244 183361787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE1A chr2 183289244 183361787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE1A chr2 183322103 183322188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE1A chr2 183350949 183384004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDE1A chr2 183351432 183351610 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PDE1A chr2 183394667 184089637 LOH Normal High-resolution SNP genotyping 21211785 DNAJC10,DUSP19,FRZB,NCKAP1,NUP35 chr2 183401096 183401193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 183406503 183468996 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 183406981 183439743 Amplified Liposarcoma FISH, CGH 21253554 NOT_FOUND chr2 183406981 183439743 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 183406981 183439743 Gain or loss Cancer - 20668451 NOT_FOUND chr2 183406981 183439743 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 183406981 183439743 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 183406981 183439743 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 183406981 183439743 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 183406982 183439743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 183406982 183439743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 183446814 183446920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 18346403 18599642 Gain Neuroblastoma aCGH 20406844 NOT_FOUND chr2 183497857 183611831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC10 chr2 183497857 183611831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC10 chr2 183518357 183518451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 183524243 183557004 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 183539506 183539561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 18354125 18354656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 183564075 183564181 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 183584459 183787952 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAJC10,FRZB chr2 183595832 183595944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC10 chr2 183599575 183599675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJC10 chr2 183615112 183729092 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC10,FRZB chr2 183637208 183637319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC10 chr2 183651535 183672965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 183683192 183685390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 183690487 183734650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRZB chr2 183690487 183734650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRZB chr2 1 83700000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC1720,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POLE4,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFXN5,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STAMBP,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TET3,TEX261,TGFA,THADA,THUMPD2,TIA1,TLX2,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TPRKB,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 183713095 183713205 Gain and loss Pancreatic cancer SNP array 17952125 FRZB chr2 183713096 183713204 Gain and loss Pancreatic cancer SNP array 17952125 FRZB chr2 183723949 183724039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRZB chr2 183768794 183790877 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP1 chr2 183793691 183799241 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NCKAP1 chr2 183793765 183799187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCKAP1 chr2 183793767 183799191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCKAP1 chr2 183794037 183797391 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NCKAP1 chr2 183806917 183806949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP1 chr2 183814633 183851913 Gain and loss Pancreatic cancer SNP array 17952125 NCKAP1 chr2 183832885 183832985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP1 chr2 183833615 183834239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCKAP1 chr2 183891272 183891372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCKAP1 chr2 183903862 185354265 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DUSP19,NUP35 chr2 183904925 183945463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DUSP19 chr2 183907941 184468294 LOH Normal High-resolution SNP genotyping 21211785 DUSP19,NUP35 chr2 183950876 183951500 Gain and loss Pancreatic cancer SNP array 17952125 DUSP19 chr2 183958212 183958554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DUSP19 chr2 18400393 18418557 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 184058593 184058643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 184180408 184181098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 184193979 184384414 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 184237389 184908879 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 184255193 184255302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 184272119 184272219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 184297669 184298353 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 184303972 184318055 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 184309111 184309211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 184309977 184312947 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 1843124 1854843 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MYT1L chr2 18433777 18433856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 184368922 184369022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 18437712 18438005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 184502646 184516833 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 184502747 184510699 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 NOT_FOUND chr2 184502759 184510686 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 184506454 185174977 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 184521521 184521621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 184522307 184522408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 18452379 18452469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 184527377 185669200 LOH Normal High-resolution SNP genotyping 21211785 ZNF804A chr2 184569322 184610413 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 184625142 184629748 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 184629271 184639875 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 184639568 184639669 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 184825885 184857278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 184842393 185567487 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ZNF804A chr2 184954944 184972899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 184971597 184971697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 184987094 184987194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185002803 185002897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185085341 185085783 Gain Normal 244K array 17666407 NOT_FOUND chr2 185125371 185125621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185171337 185512459 Copy number Psychiatric disorder - 20548289 ZNF804A chr2 185171337 185512459 Copy number Psychosis Illumina BeadArray chips 20048749 ZNF804A chr2 185171337 185512459 Copy number Rectal cancer FISH 20877625 ZNF804A chr2 185171337 185512459 Deletion anxiety disorder - 20548289 ZNF804A chr2 185171337 185512459 Deletion Schizophrenia - 20548289 ZNF804A chr2 185171337 185512459 Duplication Autism - 20548289 ZNF804A chr2 185171337 185512459 Duplication Bipolar disorder - 20548289 ZNF804A chr2 185171932 185512457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF804A chr2 185171932 185512457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF804A chr2 185200502 185200581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185284303 185284403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185289193 185629718 Gain and loss Pancreatic cancer SNP array 17952125 ZNF804A chr2 185294998 185295159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 185343503 185343572 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 185350964 185351059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185369203 185369303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185436161 185469772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF804A chr2 185461325 185483402 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF804A chr2 185486507 186382464 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ZNF804A chr2 185567487 186136592 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ZNF804A chr2 185601408 187424810 LOH Normal High-resolution SNP genotyping 21211785 FSIP2,ZC3H15,ZNF804A chr2 185761406 185761556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF804A chr2 18577352 18577452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185822657 185822757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185846809 190742545 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ANKAR,ASNSD1,CALCRL,COL3A1,COL5A2,DIRC1,FAM171B,FSIP2,GULP1,ITGAV,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561,ORMDL1,OSGEPL1,PMS1,SLC40A1,TFPI,WDR75,ZC3H15,ZSWIM2 chr2 185853178 185853278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 18591294 18591384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185945313 185945463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 185968273 185968604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 18599489 18634319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 18599489 18634319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 186044551 187521464 LOH Normal High-resolution SNP genotyping 21211785 FSIP2,ITGAV,ZC3H15 chr2 186196327 186196427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 186234746 186234878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 186237368 186237571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 186276248 186276483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 18628114 18628215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 18629189 19196656 Deletion Breast cancer Illumina 1M duo array 20393555 NT5C1B,NT5C1B-RDH14,RDH14 chr2 186299801 186333956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 186303005 186303105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 18630805 18665802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 186318512 186365310 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 186318512 186365310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 186352006 186352140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 186367590 186373390 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 186367590 186373390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 186378006 186406259 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 186378006 186406259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 186378006 186406259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 186435773 186456782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 186468070 186518155 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr2 186481003 186482970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 18648244 18649902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 18648395 47800000 Copy number Autism References 19521722 ABCG5,ABCG8,ABHD1,ADCY3,AGBL5,ALK,APOB,ARHGEF33,ASXL2,ATAD2B,ATL2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EPAS1,EPCAM,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FAM82A1,FAM98A,FEZ2,FKBP1B,FLJ12334,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GPN1,GPR113,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HS1BP3,IFT172,ITSN2,KCNG3,KCNK12,KCNK3,KHK,KIF3C,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC375196,LOC388942,LOC388948,LOC645949,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MCFD2,MEMO1,MFSD2B,MIR1301,MIR4263,MIR4757,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSH2,MTA3,MYADML,NCOA1,NLRC4,NRBP1,NT5C1B,NT5C1B-RDH14,OSR1,OST4,OTOF,OXER1,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,POMC,PPM1B,PPM1G,PPP1CB,PREB,PREPL,PRKCE,PRKD3,PTRHD1,PUM2,QPCT,RAB10,RASGRP3,RBKS,RDH14,RHOB,RHOQ,SDC1,SF3B14,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SNORD53,SNORD92,SNX17,SOCS5,SOS1,SPAST,SPDYA,SRBD1,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TCF23,THADA,THUMPD2,TMEM178A,TMEM214,TMEM247,TP53I3,TRIM54,TRMT61B,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,WDR35,WDR43,XDH,YIPF4,YPEL5,ZFP36L2,ZNF512,ZNF513 chr2 186485420 186490651 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 186495267 186523522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 186501952 186688848 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FSIP2 chr2 186509129 186509229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 18657620 18692466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 18659081 18659169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 186654836 186654936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSIP2 chr2 1866728 2035145 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MYT1L chr2 18667400 186771130 Loss Autism Array CGH 18522746 AAK1,ABCB11,ABCG5,ABCG8,ABHD1,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADCY3,ADD2,ADRA2B,AFF3,AFTPH,AGBL5,AGPS,AHSA2,ALK,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,BAZ2B,BBS5,BCL11A,BCL2L11,BIN1,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf49,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf76,C2orf78,C2orf81,C2orf91,CACNB4,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CBWD2,CCDC104,CCDC115,CCDC121,CCDC138,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCNT2,CCT4,CCT7,CD207,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHRNA1,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COBLL1,COMMD1,COX5B,COX7A2L,CREG2,CRIM1,CRIPT,CSRNP3,CTNNA2,CWC22,CXCR4,CYBRD1,CYP1B1,CYP1B1-AS1,CYP26B1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DFNB59,DGUOK,DHRS9,DHX57,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP19,DUSP2,DYNC1I2,DYNC2LI1,DYSF,EDAR,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPT1,ERCC3,ERLEC1,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM136A,FAM138B,FAM161A,FAM168B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM59B,FAM82A1,FAM98A,FANCL,FAP,FASTKD1,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ42351,FMNL2,FNDC4,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,G6PC2,GAD1,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GCKR,GDF7,GEMIN6,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GORASP2,GPAT2,GPD2,GPN1,GPR113,GPR148,GPR155,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C2,GYPC,HAAO,HADHA,HADHB,HAT1,HEATR5B,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS1BP3,HS6ST1,HTRA2,IFIH1,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITGA4,ITGA6,ITGB6,ITPRIPL1,ITSN2,IWS1,KANSL3,KBTBD10,KCMF1,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KCNK3,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIF3C,KIF5C,KLHL23,KLHL29,KRCC1,KRTCAP3,KYNU,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00486,LIPT1,LMAN2L,LOC100129726,LOC100129961,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507334,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC645949,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC728730,LOC728819,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRPPRC,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH7,MARCO,MAT2A,MATN3,MBD5,MCEE,MCFD2,MCM6,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL5,METTL8,MFSD2B,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR216A,MIR216B,MIR217,MIR3126,MIR3127,MIR3128,MIR3679,MIR3682,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR548N,MIR558,MIR559,MIR5696,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYO3B,MYO7B,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NCAPH,NCK2,NCKAP1,NCKAP5,NCOA1,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NLRC4,NMI,NMS,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NUP35,NXPH2,OLA1,OR7E91P,ORC4,OSBPL6,OSR1,OST4,OTOF,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PDE11A,PDE1A,PDK1,PELI1,PEX13,PFN4,PHOSPHO2,PHOSPHO2-KLHL23,PIGF,PKDCC,PKP4,PLA2R1,PLB1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PPIG,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP3R1,PRADC1,PREB,PREPL,PRKCE,PRKD3,PRKRA,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTPN18,PTPN4,PTRHD1,PUM2,PUS10,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RASGRP3,RBKS,RBM43,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RNU6-81,RPIA,RPL23AP32,RPL23AP7,RPL31,RPRM,RPS27A,RTKN,RTN4,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SEMA4C,SEMA4F,SEPT10,SERTAD2,SESTD1,SF3B14,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC1A4,SLC20A1,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC3A1,SLC4A10,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA70F,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SOWAHC,SP3,SP5,SP9,SPAST,SPC25,SPDYA,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STEAP3,STK39,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUPT7L,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLK1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM178A,TMEM182,TMEM185B,TMEM214,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TP53I3,TPRKB,TRABD2A,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSN,TSPYL6,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTN,TTN-AS1,TUBA3D,TUBA3E,TXNDC9,UBE2E3,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UNC50,UNQ6975,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VWA3B,WASH2P,WBP1,WDPCP,WDR33,WDR35,WDR43,WDR54,WDR92,WDSUB1,WIPF1,WTH3DI,XDH,XIRP2,XPO1,YIPF4,YPEL5,YSK4,ZAK,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZFP36L2,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3 chr2 186723282 187012357 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-362K arrays 21546498 NOT_FOUND chr2 186731089 186992826 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-340K arrays 21546498 NOT_FOUND chr2 186731089 187001808 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-369K arrays 21546498 NOT_FOUND chr2 186797135 187012357 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-356K arrays 21546498 NOT_FOUND chr2 186836837 186836915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 186851341 186851341 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 18686261 18686360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 186902574 186902691 Loss Normal 244K array 17666407 NOT_FOUND chr2 186912372 187175995 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 186915638 187466586 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ITGAV,ZC3H15 chr2 186915638 187656331 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM171B,ITGAV,ZC3H15 chr2 187033546 187078188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 187059129 187082332 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 187059129 187082332 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 187059130 187082330 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 187059130 187082330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187059130 187082330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187070085 187073638 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 187070085 187073638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187082490 187116838 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 187106090 187320896 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr2 187145360 187145541 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 187158286 187406053 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZC3H15 chr2 187163045 187253872 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 187163045 187253872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187163045 187253872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187176391 187199584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 187178386 187204357 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 187192725 187192862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 187222852 187354879 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ZC3H15 chr2 187228005 188654274 LOH Normal High-resolution SNP genotyping 21211785 CALCRL,FAM171B,ITGAV,TFPI,ZC3H15,ZSWIM2 chr2 187228005 188669684 LOH Normal High-resolution SNP genotyping 21211785 CALCRL,FAM171B,ITGAV,TFPI,ZC3H15,ZSWIM2 chr2 187228005 188671032 LOH Normal High-resolution SNP genotyping 21211785 CALCRL,FAM171B,ITGAV,TFPI,ZC3H15,ZSWIM2 chr2 187267034 187336759 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 187267034 187336759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187267034 187336759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187280306 187371133 Gain and loss Pancreatic cancer SNP array 17952125 ZC3H15 chr2 187366362 187366456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H15 chr2 187382892 187384760 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 187384295 187454014 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 187400452 187422142 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 187400452 187422142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187400452 187422142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187513640 187531769 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 ITGAV chr2 187517713 187539403 Gain and loss Pancreatic cancer SNP array 17952125 ITGAV chr2 187570498 187570598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM171B chr2 187620160 187620260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM171B chr2 187635967 187636052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 187673746 187673846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 18768844 18876595 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NT5C1B,NT5C1B-RDH14 chr2 18769142 18895353 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NT5C1B,NT5C1B-RDH14 chr2 18769142 18895353 Copy number gain Normal High-resolution SNP genotyping 21211785 NT5C1B,NT5C1B-RDH14 chr2 187695534 187695833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM2 chr2 187695605 187695829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZSWIM2 chr2 18769628 18770829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NT5C1B,NT5C1B-RDH14 chr2 187739868 188037266 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 187748946 187749045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 187751532 187861490 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 1877673 1877773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYT1L chr2 187805 217293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 187812866 187813090 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 187843670 187843776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 18787173 18787273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 187886334 188156975 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 187886334 188250233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CALCRL chr2 187900081 188143888 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 187916093 188021266 Copy number Lung cancer - 20668451 NOT_FOUND chr2 187916093 188021266 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 187916093 188021266 Gain or loss Cancer - 20668451 NOT_FOUND chr2 187916093 188021266 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 187916093 188021266 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 187916093 188021266 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 187916093 188021266 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 187916099 188021432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187916099 188021432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 187916101 188021260 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 187923964 187924270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 187932302 188226489 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CALCRL chr2 187949203 187949303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 187960931 187961037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 187960932 187961037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 187987698 188078477 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188001309 188021118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 188001309 188021118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 188016256 188114878 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 18803213 18803313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188035338 188138484 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 188037202 188127464 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 188037202 188127464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 188037202 188127464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 188042646 188143888 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188089816 188089916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188092549 188098017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 188092966 188093066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188110238 188168757 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188129001 188130500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 188140068 188162046 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188156791 188244671 Gain and loss Pancreatic cancer SNP array 17952125 CALCRL chr2 188158418 188158507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188179827 188853079 Duplication Intellectual disability Array CGH 22102821 CALCRL,TFPI chr2 188205548 188328691 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CALCRL chr2 188213336 188213902 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CALCRL chr2 188213431 188213777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CALCRL chr2 188220777 188798710 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CALCRL,TFPI chr2 188249803 188303644 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CALCRL chr2 188333158 188333258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TFPI chr2 188334039 188334118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TFPI chr2 188369440 188369540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TFPI chr2 188433001 188433101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188448006 188448105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188472200 190073957 LOH Normal High-resolution SNP genotyping 21211785 COL3A1,COL5A2,DIRC1,GULP1,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561 chr2 188508877 190073957 LOH Normal High-resolution SNP genotyping 21211785 COL3A1,COL5A2,DIRC1,GULP1,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561 chr2 188508877 190155074 LOH Normal High-resolution SNP genotyping 21211785 COL3A1,COL5A2,DIRC1,GULP1,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561 chr2 188515574 188516658 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 188548171 188590721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188548453 188590721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188548453 188656086 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188548453 188656369 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188551691 188551791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188585426 189460588 LOH Normal High-resolution SNP genotyping 21211785 GULP1,MIR561 chr2 188585426 189463922 LOH Normal High-resolution SNP genotyping 21211785 GULP1,MIR561 chr2 188610577 190740787 LOH Normal High-resolution SNP genotyping 21211785 ANKAR,ASNSD1,COL3A1,COL5A2,DIRC1,GULP1,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561,ORMDL1,OSGEPL1,PMS1,SLC40A1,WDR75 chr2 188652685 188658048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 18866355 18866849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 18870733 18870826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188747754 188773073 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188773819 188773851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188800194 188801354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 188825901 188831200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 188827468 188829227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 188827878 188829223 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 188827885 188829198 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 188849704 188849816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 188851139 188851239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188863307 188863407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188864641 189168898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GULP1,MIR561 chr2 188864641 189168898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GULP1,MIR561 chr2 188865635 189168891 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GULP1,MIR561 chr2 188870464 188870560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 188878546 188911121 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188883155 188931226 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188887492 188911121 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188887492 188917555 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188887492 188935111 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 188917455 188918615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 188961300 188961400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188965616 188965704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 188966965 188967077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 188966989 188967077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 188981902 189286152 Gain and loss Pancreatic cancer SNP array 17952125 GULP1,MIR561 chr2 189008313 189008413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 189030591 192069072 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ANKAR,ASNSD1,C2orf88,COL3A1,COL5A2,DIRC1,GLS,GULP1,HIBCH,INPP1,MFSD6,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561,MSTN,NAB1,ORMDL1,OSGEPL1,PMS1,SLC40A1,STAT1,STAT4,TMEM194B,WDR75 chr2 189053919 189054019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 189094186 189094286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 189100000 191600000 Copy number Normal - 21701786 ANKAR,ASNSD1,C2orf88,COL3A1,COL5A2,DIRC1,GULP1,HIBCH,INPP1,MFSD6,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561,MSTN,NAB1,ORMDL1,OSGEPL1,PMS1,SLC40A1,TMEM194B,WDR75 chr2 189100000 191600000 Microdeletion Immune disease - 21076436 ANKAR,ASNSD1,C2orf88,COL3A1,COL5A2,DIRC1,GULP1,HIBCH,INPP1,MFSD6,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561,MSTN,NAB1,ORMDL1,OSGEPL1,PMS1,SLC40A1,TMEM194B,WDR75 chr2 189100000 191600000 Microdeletion Immune disease Affymetrix Genome-Wide Human SNP Array 6.0 platform 21042300 ANKAR,ASNSD1,C2orf88,COL3A1,COL5A2,DIRC1,GULP1,HIBCH,INPP1,MFSD6,MIR1245A,MIR1245B,MIR3129,MIR3606,MIR561,MSTN,NAB1,ORMDL1,OSGEPL1,PMS1,SLC40A1,TMEM194B,WDR75 chr2 189127288 189127388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 189162820 189163017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GULP1 chr2 189162901 189163001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GULP1 chr2 189163028 189163128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GULP1 chr2 189176209 189276020 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GULP1 chr2 189214231 189276020 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GULP1 chr2 189214422 189276020 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GULP1 chr2 189237724 189276020 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GULP1 chr2 189259952 189725081 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DIRC1,GULP1 chr2 189259952 189725081 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DIRC1,GULP1 chr2 189276020 189287562 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GULP1 chr2 189276189 189287562 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GULP1 chr2 189277738 189289666 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GULP1 chr2 189306757 189363076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GULP1 chr2 189306757 189363076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GULP1 chr2 189306757 189363076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GULP1 chr2 189314092 189314192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GULP1 chr2 18933184 18960796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 189353919 189353993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GULP1 chr2 189400000 191900000 Amplification Colorectal cancer PCR 16912164 ANKAR,ASNSD1,C2orf88,COL3A1,COL5A2,DIRC1,GLS,GULP1,HIBCH,INPP1,MFSD6,MIR1245A,MIR1245B,MIR3129,MIR3606,MSTN,NAB1,ORMDL1,OSGEPL1,PMS1,SLC40A1,STAT1,STAT4,TMEM194B,WDR75 chr2 189400000 191900000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ANKAR,ASNSD1,C2orf88,COL3A1,COL5A2,DIRC1,GLS,GULP1,HIBCH,INPP1,MFSD6,MIR1245A,MIR1245B,MIR3129,MIR3606,MSTN,NAB1,ORMDL1,OSGEPL1,PMS1,SLC40A1,STAT1,STAT4,TMEM194B,WDR75 chr2 189424018 189480337 Gain and loss Pancreatic cancer SNP array 17952125 GULP1 chr2 189509491 190150618 LOH Normal High-resolution SNP genotyping 21211785 COL3A1,COL5A2,DIRC1,MIR1245A,MIR1245B,MIR3129,MIR3606 chr2 189543720 189543820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 189545891 190657688 LOH Normal High-resolution SNP genotyping 21211785 ANKAR,ASNSD1,COL3A1,COL5A2,DIRC1,MIR1245A,MIR1245B,MIR3129,MIR3606,ORMDL1,OSGEPL1,PMS1,SLC40A1,WDR75 chr2 189547344 189585717 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 189547344 189585717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 189547344 189585717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 189551063 189551132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 189604886 189752850 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DIRC1 chr2 189604886 189752850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIRC1 chr2 189604886 189752850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIRC1 chr2 189631673 190422048 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 COL3A1,COL5A2,DIRC1,MIR1245A,MIR1245B,MIR3129,MIR3606,WDR75 chr2 189664605 189702978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 189721391 190680450 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKAR,ASNSD1,COL3A1,COL5A2,MIR1245A,MIR1245B,MIR3129,MIR3606,ORMDL1,OSGEPL1,PMS1,SLC40A1,WDR75 chr2 189756769 189801630 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 189762656 189762756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 189804096 189811162 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr2 189811634 189811734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1 89912849 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-302K arrays 21546498 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 89912849 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-339K arrays 21546498 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 89912849 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-355K arrays 21546498 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 89912849 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-359K arrays 21546498 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 18994587 18994687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 189959241 189959341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL5A2 chr2 189959421 189959650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL5A2 chr2 189959433 189959537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL5A2 chr2 18998650 19001974 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 190002101 190002762 Gain and loss Pancreatic cancer SNP array 17952125 COL5A2 chr2 190014403 190048509 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 COL5A2 chr2 190014404 190048509 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 COL5A2 chr2 190014404 190048509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL5A2 chr2 190014404 190048509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL5A2 chr2 190027433 191853577 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKAR,ASNSD1,C2orf88,COL5A2,GLS,HIBCH,INPP1,MFSD6,MSTN,NAB1,ORMDL1,OSGEPL1,PMS1,SLC40A1,STAT1,TMEM194B,WDR75 chr2 190028166 190061073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COL5A2 chr2 190031365 190031435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL5A2 chr2 190075022 190084441 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 190110646 190141324 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 190131665 190165770 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 190133138 190133218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190133560 190153782 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 190133563 190153858 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 190133563 190153858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190133563 190153858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190211168 190211258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190234391 190243800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 190234391 190243800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190234391 190243800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190249675 190319615 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WDR75 chr2 190249675 190319615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR75 chr2 190249675 190319615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR75 chr2 190250824 190271119 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 190309472 190312539 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 WDR75 chr2 190319631 190336169 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WDR75 chr2 190319631 190336169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR75 chr2 190319631 190336169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR75 chr2 190326435 190326530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR75 chr2 190339709 190346693 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 WDR75 chr2 190343295 190357335 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 190343295 190357342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190343295 190357342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190351652 190361061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 190357055 190450600 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SLC40A1 chr2 190357055 190450600 Gain or loss Breast cancer - 20668451 SLC40A1 chr2 190357055 190450600 Gain or loss Cancer - 20668451 SLC40A1 chr2 190357055 190450600 Gain or loss Lung cancer - 20668451 SLC40A1 chr2 190357055 190450600 Gain or loss Ovarian cancer - 20668451 SLC40A1 chr2 190357055 190450600 Gain or loss Pancreas cancer - 20668451 SLC40A1 chr2 190357055 190450600 Gain or loss Prostate cancer - 20668451 SLC40A1 chr2 190357355 190450599 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC40A1 chr2 190357355 190450599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC40A1 chr2 190366688 190436876 Gain and loss Pancreatic cancer SNP array 17952125 SLC40A1 chr2 190380901 190380996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190415470 190415545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190436892 190452999 Gain and loss Pancreatic cancer SNP array 17952125 SLC40A1 chr2 190443696 190443788 Gain and loss Pancreatic cancer SNP array 17952125 SLC40A1 chr2 190443696 190443789 Gain and loss Pancreatic cancer SNP array 17952125 SLC40A1 chr2 190447 200503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 190460556 190474596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 190470240 190470340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190474613 190567668 Gain and loss Pancreatic cancer SNP array 17952125 ANKAR,ASNSD1 chr2 190486324 190486424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190487160 190532021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASNSD1 chr2 190496307 190497187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 190496307 190497187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190503245 190503981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 19051816 19081970 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr2 190523348 190523457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 19055699 19055799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190610808 191275675 LOH Normal High-resolution SNP genotyping 21211785 ANKAR,C2orf88,HIBCH,INPP1,MFSD6,MSTN,ORMDL1,OSGEPL1,PMS1 chr2 190613568 190614448 Gain and loss Pancreatic cancer SNP array 17952125 OSGEPL1 chr2 190628674 190635700 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ORMDL1 chr2 190628674 190635700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ORMDL1 chr2 190628674 190635700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ORMDL1 chr2 190640609 190640718 Gain and loss Pancreatic cancer SNP array 17952125 ORMDL1 chr2 19065745 19100096 Deletion Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V4 BeadChip 22016809 NOT_FOUND chr2 190704229 190704311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PMS1 chr2 190710731 190776453 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PMS1 chr2 190710731 190776453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PMS1 chr2 190710731 190776453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PMS1 chr2 190710793 190710793 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PMS1 chr2 19073431 19073531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190745939 190752961 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 190753925 190776455 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 190769212 190769312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190776892 190917164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190776892 190917164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 190777606 190892809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 190851718 190874318 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr2 190870714 190890441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 190889726 192092211 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf88,GLS,HIBCH,INPP1,MFSD6,MSTN,NAB1,STAT1,STAT4,TMEM194B chr2 190894867 191010065 Gain and loss Pancreatic cancer SNP array 17952125 C2orf88,MSTN chr2 190916663 190944555 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MSTN chr2 190916663 190944555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MSTN chr2 190916663 190944555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSTN chr2 190916815 190916915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 190981326 191075286 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C2orf88,HIBCH chr2 190981326 191075286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf88,HIBCH chr2 190981326 191075286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf88,HIBCH chr2 190982176 190982276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19100000 23900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APOB,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19100000 23900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 APOB,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19100000 23900000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 APOB,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19100000 23900000 Gain Medulloblastoma Qrt-PCR 17522785 APOB,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19100000 23900000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 APOB,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19100991 19101091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19102168 19157069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 191033941 191061813 Gain and loss Pancreatic cancer SNP array 17952125 C2orf88 chr2 191034125 191485309 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C2orf88,HIBCH,INPP1,MFSD6,TMEM194B chr2 19105837 19148233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 19106160 19148744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 191077313 191107693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIBCH chr2 191077313 191107693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIBCH chr2 19108145 19153178 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 19108531 19154994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 19108600 19150352 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 191089289 191107626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIBCH chr2 19109161 19149124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 19109244 19149165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 191110890 191111031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIBCH chr2 191126205 191192307 Gain and loss Pancreatic cancer SNP array 17952125 HIBCH chr2 191142355 191142455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIBCH chr2 191144297 191191216 Gain Normal 244K array 17666407 HIBCH chr2 191199427 191204824 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 191206336 191206436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 191207752 191224866 Gain and loss Pancreatic cancer SNP array 17952125 INPP1 chr2 191217498 191217593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP1 chr2 191222041 191265734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP1 chr2 191222041 191265734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP1 chr2 191222093 191265734 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 INPP1 chr2 191228151 191228292 Gain and loss Pancreatic cancer SNP array 17952125 INPP1 chr2 191243297 191243350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 19126801 19658100 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4757,OSR1 chr2 191271698 191271756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 191286584 191316915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MFSD6 chr2 19129395 19129495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 191317745 191352399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MFSD6 chr2 191339465 191382995 Gain and loss Pancreatic cancer SNP array 17952125 MFSD6,TMEM194B chr2 191343716 191343768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MFSD6 chr2 191347482 191378300 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MFSD6,TMEM194B chr2 191382539 191382639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM194B chr2 191383504 191383559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM194B chr2 191387227 191388653 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TMEM194B chr2 191394268 191394363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM194B chr2 19140292 19140392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 191444321 191444421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 191453842 191538517 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NAB1 chr2 191453842 191538517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAB1 chr2 191453842 191538517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAB1 chr2 191478042 191478252 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 191480501 191480610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 191485309 194277010 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 GLS,MYO1B,NAB1,NABP1,PCGEM1,SDPR,STAT1,STAT4,TMEFF2 chr2 191491130 191491280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19153674 19153774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 191542006 191587221 Gain or loss Breast cancer - 20668451 NAB1 chr2 191542006 191587221 Gain or loss Cancer - 20668451 NAB1 chr2 191542006 191587221 Gain or loss Lung cancer - 20668451 NAB1 chr2 191542006 191587221 Gain or loss Ovarian cancer - 20668451 NAB1 chr2 191542006 191587221 Gain or loss Pancreas cancer - 20668451 NAB1 chr2 191542006 191587221 Gain or loss Prostate cancer - 20668451 NAB1 chr2 191542121 191587181 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NAB1 chr2 191542121 191587181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAB1 chr2 191542121 191587181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAB1 chr2 191545573 191545673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAB1 chr2 191547673 191547773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAB1 chr2 191564178 191564258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 191570338 191604271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 191571103 191655778 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 191600000 197100000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 DNAH7,GLS,HECW2,MYO1B,NABP1,PCGEM1,SDPR,SLC39A10,STAT1,STAT4,STK17B,TMEFF2 chr2 191600000 197100000 Copy number Kartagener syndrome reference 16639409 DNAH7,GLS,HECW2,MYO1B,NABP1,PCGEM1,SDPR,SLC39A10,STAT1,STAT4,STK17B,TMEFF2 chr2 191602547 191724539 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 191602547 191724561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 191602547 191724561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 191602550 191724539 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 191602550 191724539 Gain or loss Cancer - 20668451 NOT_FOUND chr2 191602550 191724539 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 191602550 191724539 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 191602550 191724539 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 191602550 191724539 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 191645525 191645625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 191659382 191704442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 191694921 191695027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 191719812 191841800 Gain and loss Pancreatic cancer SNP array 17952125 GLS,STAT1 chr2 191766373 191766491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLS chr2 191803440 191803525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLS chr2 191812182 191812288 Gain and loss Pancreatic cancer SNP array 17952125 GLS chr2 191818375 191998360 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GLS,STAT1,STAT4 chr2 191818375 191998360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLS,STAT1,STAT4 chr2 191818375 191998360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLS,STAT1,STAT4 chr2 191844439 191844539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAT1 chr2 191900000 197400000 Loss Cardiomyopathy - 16327803 DNAH7,HECW2,MYO1B,NABP1,PCGEM1,SDPR,SLC39A10,STAT4,STK17B,TMEFF2 chr2 191920000 199880000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ANKRD44,BOLL,C2orf66,CCDC150,COQ10B,DNAH7,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,LOC100130452,MARS2,MOB4,MYO1B,NABP1,PCGEM1,PGAP1,PLCL1,RFTN2,SDPR,SF3B1,SLC39A10,STAT4,STK17B,TMEFF2 chr2 191935636 192115548 Gain and loss Pancreatic cancer SNP array 17952125 MYO1B,STAT4 chr2 191943909 191943994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAT4 chr2 19200000 24000000 Amplification Neuroblastoma Affymetrix 50K, 250K SNP arrays from 18664255 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 24000000 Amplification Neuroblastoma Oligonucleotide and cDNA array CGH 18765546 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 24000000 Amplification Neuroblastoma real-time reverse transcription-PCR 17289879 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 24000000 Amplification Neuroblastoma semi-quantitative differential PCR 19738985 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 24000000 Amplification Neuroblastoma Southern blot 18281664 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 24000000 Amplification Ovarian cancer quantitative real-time PCR 17908972 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 24000000 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 24000000 Gain Neuroblastoma Affymetrix U133 Plus 2 chip 17533364 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 24000000 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 APOB,ATAD2B,C2orf43,FLJ12334,GDF7,HS1BP3,KLHL29,LAPTM4A,LOC645949,MATN3,MIR4757,OSR1,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 19200000 27900000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ABHD1,ADCY3,AGBL5,APOB,ASXL2,ATAD2B,ATRAID,C2orf16,C2orf18,C2orf43,C2orf44,C2orf53,C2orf70,CAD,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EIF2B4,EMILIN1,EPT1,FAM228A,FAM228B,FAM59B,FKBP1B,FLJ12334,FNDC4,FTH1P3,GCKR,GDF7,GPN1,GPR113,GTF3C2,HADHA,HADHB,HS1BP3,IFT172,ITSN2,KCNK3,KHK,KIF3C,KLHL29,KRTCAP3,LAPTM4A,LOC100505624,LOC645949,MAPRE3,MATN3,MFSD2B,MIR1301,MIR4757,MPV17,NCOA1,NRBP1,OSR1,OST4,OTOF,PFN4,POMC,PPM1G,PREB,PTRHD1,PUM2,RAB10,RHOB,SDC1,SF3B14,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,TTC32,UBXN2A,UCN,WDR35,ZNF512,ZNF513 chr2 192061170 192061255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 192096848 192127916 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYO1B chr2 192153310 192153405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1B chr2 192225779 192225875 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO1B chr2 192251107 192260531 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MYO1B chr2 192251107 192261496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYO1B chr2 192251107 192261496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYO1B chr2 192251915 192252015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO1B chr2 192267649 192267976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO1B chr2 192270434 192270768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYO1B chr2 192298673 192298768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 192300100 192300163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 192349733 192349833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 192350477 242717069 Loss Urothelial carcinoma array CGH validated by FISH 21177765 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,CAB39,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP20A1,CYP27A1,D2HGDH,DES,DGKD,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DTYMK,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FARP2,FARSB,FASTKD2,FBXO36,FEV,FLJ43879,FN1,FONG,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,HDAC4,HDLBP,HECW2,HES6,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP5D,IQCA1,IRS1,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MTERFD2,MYEOV2,MYL1,NABP1,NBEAL1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,OTOS,PARD3B,PASK,PAX3,PCGEM1,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHM3,PNKD,PP14571,PPIL3,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SDPR,SEPT2,SERPINE2,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC39A10,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,THAP4,TIGD1,TM4SF20,TMBIM1,TMEFF2,TMEM169,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WNT10A,WNT6,XRCC5,ZDBF2,ZFAND2B,ZNF142 chr2 192368368 192377792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 192403426 192403526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 192407295 192420226 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 192407295 192420226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 192407295 192420226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 192452987 192454003 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 192454142 192455194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 192463790 192464085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 192522014 192767904 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NABP1,SDPR chr2 192522014 192767904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NABP1,SDPR chr2 192522014 192767904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NABP1,SDPR chr2 192522991 192767889 Copy number Lung cancer - 20668451 NABP1,SDPR chr2 192522991 192767889 Gain or loss Breast cancer - 20668451 NABP1,SDPR chr2 192522991 192767889 Gain or loss Cancer - 20668451 NABP1,SDPR chr2 192522991 192767889 Gain or loss Lung cancer - 20668451 NABP1,SDPR chr2 192522991 192767889 Gain or loss Ovarian cancer - 20668451 NABP1,SDPR chr2 192522991 192767889 Gain or loss Pancreas cancer - 20668451 NABP1,SDPR chr2 192522991 192767889 Gain or loss Prostate cancer - 20668451 NABP1,SDPR chr2 192525253 192537296 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 192558452 192593737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 192571397 192572425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 192610707 194878597 LOH Normal High-resolution SNP genotyping 21211785 PCGEM1,SDPR,TMEFF2 chr2 192611481 192620036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 192622531 193055632 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SDPR,TMEFF2 chr2 192640255 192885165 Gain and loss Pancreatic cancer SNP array 17952125 SDPR,TMEFF2 chr2 19265385 19265479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 192669977 192670077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 192670129 194878597 LOH Normal High-resolution SNP genotyping 21211785 PCGEM1,SDPR,TMEFF2 chr2 19271441 19273425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 192767001 192769000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 192787725 192787815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 192839853 192840025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEFF2 chr2 192840041 192840164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEFF2 chr2 192843324 192843413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEFF2 chr2 192917016 192917101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEFF2 chr2 192918966 192919066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEFF2 chr2 193000000 202300000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ALS2CR12,ANKRD44,AOX1,AOX2P,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CFLAR,CFLAR-AS1,CLK1,COQ10B,DNAH7,FAM126B,FONG,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,KCTD18,LOC100130452,LOC100507140,MARS2,MOB4,NDUFB3,NIF3L1,ORC2,PCGEM1,PGAP1,PLCL1,PPIL3,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SLC39A10,SPATS2L,STK17B,TMEFF2,TRAK2,TYW5 chr2 193011419 193011519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEFF2 chr2 193021180 193444627 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TMEFF2 chr2 193021180 194387445 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCGEM1,TMEFF2 chr2 193037742 194084341 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 PCGEM1,TMEFF2 chr2 193063650 193063953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 193075685 195570854 LOH Normal High-resolution SNP genotyping 21211785 PCGEM1 chr2 193101250 193102990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 193174232 193174332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 193262865 193267360 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 193262865 193267360 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 1 93300000 Gain Glioblastoma multiforme CGH 17387387 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 93300000 Gain Medulloblastoma Qrt-PCR 17522785 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 93300000 Gain Neuroblastoma Affymetrix U133 Plus 2 chip 17533364 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 93300000 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 93300000 Gain Normal Human genome CGH 35k ARRAY PLATFORM 22144094 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 93300000 Gain or loss Endometrial cancer CGH 22040021 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 93300000 Loss Adrenal tumor CGH 17535989 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 93300000 Loss Breast cancer aCGH 21264507 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 1 93300000 Trisomy Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 193305544 193473630 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 193386817 193995344 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-354K arrays 21546498 PCGEM1 chr2 193402900 193403000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 193403564 194084341 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-358K arrays 21546498 PCGEM1 chr2 193414549 193414710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 193490039 193490249 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 193496858 193496890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 193517981 193895182 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-350K arrays 21546498 PCGEM1 chr2 1935203 2059416 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 MYT1L chr2 193577586 193577686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 193714764 193714864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 193718305 193718405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 193794995 193868741 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 NOT_FOUND chr2 193816923 193863368 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 193850833 193850933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19390747 19390847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 193930247 194070206 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 193966894 193967845 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 194024309 194135536 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 194038999 194039223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 19407107 19440536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 19409501 19425000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 194104072 194137609 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 194106739 194107078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 19414728 19421865 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 19414728 19421865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 19414728 19421865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 19416398 19416930 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 194264686 194264771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194295401 194306617 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 19432898 19432998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194335159 194473802 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 194356032 196232480 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 194395801 194408800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 194396829 194406828 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr2 194397747 194407010 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 194401744 195550250 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 194401744 196232480 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 194413252 196232480 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 194426983 194434156 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 194434156 194439834 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 194439834 194446401 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 194478083 194478183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194502708 194528376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 194508547 194529867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 194508994 194535107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 194509384 194537781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 194512548 194526697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 194544781 194544833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194559000 197576293 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CCDC150,DNAH7,HECW2,LOC100130452,SLC39A10,STK17B chr2 194564022 194564108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 194566418 194566518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194566516 194566667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194642298 194642398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194647393 194647493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194658723 194658808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194665118 194665218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194725909 194725984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19472875 19480012 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 1 94755295 Upd Normal MAD tool 21586113 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM110C,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC654342,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 194786449 196500819 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 194813292 194813381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 194819584 194820379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 194878597 195228904 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 194999213 195681429 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 195003501 195008500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 195022965 195034089 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 19505241 19505341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 195081062 195138455 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 195131247 195131945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 195185873 195185979 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 195231345 195231651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 195234111 195250395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 19525770 19525802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 195274601 195278500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 195283780 195289707 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 195334525 195334625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 195348606 195348912 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 195354337 195354404 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 195454317 195579363 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr2 195540933 196035044 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 195556001 195557500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 195665169 196841853 LOH Normal High-resolution SNP genotyping 21211785 DNAH7,SLC39A10 chr2 195677463 195693256 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 195677463 195693256 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 195679383 195693256 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 195679383 195693256 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 195687511 195698133 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 195687511 195698133 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 195687664 195692581 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 195687664 195692581 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 195692666 195692886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 195739555 195739859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 195758401 195762400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 195760060 195760330 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 195781701 195781801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 195785289 195785387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 195857873 195904056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 195871454 195872551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 195905335 195940548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 195912033 195912117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 195917475 195917554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 195923063 195923474 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 195960589 195960689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 195986439 196831429 LOH Normal High-resolution SNP genotyping 21211785 DNAH7,SLC39A10 chr2 195996665 197785515 LOH Normal High-resolution SNP genotyping 21211785 C2orf66,CCDC150,DNAH7,GTF3C3,HECW2,LOC100130452,PGAP1,SLC39A10,STK17B chr2 196010445 196010545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196062132 196062222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196086031 196118142 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 196087005 196087111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 196122670 197286947 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAH7,HECW2,SLC39A10,STK17B chr2 196145347 196828647 LOH Normal High-resolution SNP genotyping 21211785 DNAH7,SLC39A10 chr2 196155759 196156625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 196155834 196816261 LOH Normal High-resolution SNP genotyping 21211785 DNAH7,SLC39A10 chr2 196155834 196828647 LOH Normal High-resolution SNP genotyping 21211785 DNAH7,SLC39A10 chr2 196155834 196891835 LOH Normal High-resolution SNP genotyping 21211785 DNAH7,SLC39A10 chr2 196175754 196175854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196192437 196217821 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 196204266 196204375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 196204268 196204374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 196208530 196816261 LOH Normal High-resolution SNP genotyping 21211785 DNAH7,SLC39A10 chr2 196229716 196310671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 196229716 196310671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 196230184 196310663 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 196236451 196240375 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 196243341 196243443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 196249949 196250049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196273020 196273894 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 19628010 19628082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19630841 19634293 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 19631016 19634043 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 19631063 19634042 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 196310672 196643975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH7,SLC39A10 chr2 196310672 196643975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH7,SLC39A10 chr2 196310673 196643975 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAH7,SLC39A10 chr2 196345039 196345139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196347445 196427924 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 196350973 196351057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196360602 196360704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 196360602 196360708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 196387801 196432639 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 196389503 196393299 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 196427934 196759060 Gain and loss Pancreatic cancer SNP array 17952125 DNAH7,SLC39A10 chr2 196431733 196432598 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 196444657 196444935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 196478779 196478879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19656586 19703286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 19658101 19961700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 196616535 196617201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH7 chr2 196617257 196617357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH7 chr2 196633334 204915185 Deletion Normal - 21701786 ABI2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CD28,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,CTLA4,CYP20A1,DNAH7,FAM117B,FAM126B,FONG,FZD7,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,KCTD18,LOC100130452,LOC100507140,MARS2,MOB4,MPP4,NBEAL1,NDUFB3,NIF3L1,NOP58,ORC2,PGAP1,PLCL1,PPIL3,RAPH1,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORD11,SNORD11B,SNORD70,SPATS2L,STK17B,STRADB,SUMO1,TMEM237,TRAK2,TYW5,WDR12 chr2 196678391 197997071 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD44,C2orf66,CCDC150,DNAH7,GTF3C3,HECW2,LOC100130452,PGAP1,STK17B chr2 196687269 242618229 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,CAB39,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP20A1,CYP27A1,DES,DGKD,DIRC3,DIS3L2,DNAH7,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DTYMK,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FARP2,FARSB,FASTKD2,FBXO36,FEV,FLJ43879,FN1,FONG,FZD5,FZD7,GBX2,GCSHP3,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,HDAC4,HDLBP,HECW2,HES6,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,INHA,INO80D,INPP5D,IQCA1,IRS1,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MTERFD2,MYEOV2,MYL1,NBEAL1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,OTOS,PARD3B,PASK,PAX3,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHM3,PNKD,PP14571,PPIL3,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK17B,STK25,STK36,STRADB,SUMO1,THAP4,TIGD1,TM4SF20,TMBIM1,TMEM169,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WNT10A,WNT6,XRCC5,ZDBF2,ZFAND2B,ZNF142 chr2 196709913 196749472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH7 chr2 196709913 196749472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH7 chr2 196718088 196718188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH7 chr2 19672438 19672470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196772221 197165580 Copy number Lung cancer - 20668451 DNAH7,HECW2,STK17B chr2 196772221 197165580 Gain or loss Breast cancer - 20668451 DNAH7,HECW2,STK17B chr2 196772221 197165580 Gain or loss Cancer - 20668451 DNAH7,HECW2,STK17B chr2 196772221 197165580 Gain or loss Lung cancer - 20668451 DNAH7,HECW2,STK17B chr2 196772221 197165580 Gain or loss Ovarian cancer - 20668451 DNAH7,HECW2,STK17B chr2 196772221 197165580 Gain or loss Pancreas cancer - 20668451 DNAH7,HECW2,STK17B chr2 196772221 197165580 Gain or loss Prostate cancer - 20668451 DNAH7,HECW2,STK17B chr2 196772222 197165580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH7,HECW2,STK17B chr2 196772222 197165580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH7,HECW2,STK17B chr2 196788189 196788291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH7 chr2 196822698 197558659 LOH Normal High-resolution SNP genotyping 21211785 CCDC150,DNAH7,HECW2,STK17B chr2 196822698 197562106 LOH Normal High-resolution SNP genotyping 21211785 CCDC150,DNAH7,HECW2,STK17B chr2 196826267 197029992 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 DNAH7,STK17B chr2 196827373 196861781 Gain and loss Pancreatic cancer SNP array 17952125 DNAH7 chr2 196833077 197852041 LOH Normal High-resolution SNP genotyping 21211785 ANKRD44,C2orf66,CCDC150,DNAH7,GTF3C3,HECW2,LOC100130452,PGAP1,STK17B chr2 196860100 197572617 LOH Normal High-resolution SNP genotyping 21211785 CCDC150,DNAH7,HECW2,LOC100130452,STK17B chr2 196860100 198890492 LOH Normal High-resolution SNP genotyping 21211785 ANKRD44,BOLL,C2orf66,CCDC150,COQ10B,DNAH7,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,LOC100130452,MARS2,MOB4,PGAP1,PLCL1,RFTN2,SF3B1,STK17B chr2 196862378 196862674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH7 chr2 196884703 196884788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH7 chr2 196884752 197786158 LOH Normal High-resolution SNP genotyping 21211785 C2orf66,CCDC150,DNAH7,GTF3C3,HECW2,LOC100130452,PGAP1,STK17B chr2 196889483 197282841 Gain and loss Pancreatic cancer SNP array 17952125 DNAH7,HECW2,STK17B chr2 19689362 37565418 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD1,ADCY3,AGBL5,ALK,APOB,ASXL2,ATAD2B,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf53,C2orf56,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CRIM1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FAM98A,FEZ2,FKBP1B,FLJ12334,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GPN1,GPR113,GTF3C2,HADHA,HADHB,HEATR5B,HS1BP3,IFT172,ITSN2,KCNK3,KHK,KIF3C,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00486,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC645949,LTBP1,MAPRE3,MATN3,MEMO1,MFSD2B,MIR1301,MIR4263,MIR4765,MIR558,MPV17,MRPL33,MYADML,NCOA1,NLRC4,NRBP1,OST4,OTOF,PFN4,PLB1,POMC,PPM1G,PPP1CB,PREB,PRKD3,PTRHD1,PUM2,RAB10,RASGRP3,RBKS,RHOB,SDC1,SF3B14,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPAST,SPDYA,SRD5A2,STRN,SULT6B1,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,TRMT61B,TTC27,TTC32,UBXN2A,UCN,VIT,WDR35,WDR43,XDH,YIPF4,YPEL5,ZNF512,ZNF513 chr2 196905450 196905552 Gain and loss Pancreatic cancer SNP array 17952125 DNAH7 chr2 196952459 197565844 LOH Normal High-resolution SNP genotyping 21211785 CCDC150,HECW2,LOC100130452,STK17B chr2 196966514 196966614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196969368 196969455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 196979639 196979937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 196981615 198509523 LOH Normal High-resolution SNP genotyping 21211785 ANKRD44,C2orf66,CCDC150,COQ10B,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,LOC100130452,MOB4,PGAP1,RFTN2,SF3B1,STK17B chr2 197007550 198197037 LOH Normal High-resolution SNP genotyping 21211785 ANKRD44,C2orf66,CCDC150,GTF3C3,HECW2,LOC100130452,PGAP1,STK17B chr2 197015701 197047115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STK17B chr2 197024691 197054485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STK17B chr2 197100000 203500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALS2,ALS2CR11,ALS2CR12,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,FAM117B,FAM126B,FONG,FZD7,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,KCTD18,LOC100130452,LOC100507140,MARS2,MOB4,MPP4,NDUFB3,NIF3L1,NOP58,ORC2,PGAP1,PLCL1,PPIL3,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORD11,SNORD11B,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5 chr2 197100000 203500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALS2,ALS2CR11,ALS2CR12,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,FAM117B,FAM126B,FONG,FZD7,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,KCTD18,LOC100130452,LOC100507140,MARS2,MOB4,MPP4,NDUFB3,NIF3L1,NOP58,ORC2,PGAP1,PLCL1,PPIL3,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORD11,SNORD11B,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5 chr2 197100000 203500000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ALS2,ALS2CR11,ALS2CR12,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,FAM117B,FAM126B,FONG,FZD7,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,KCTD18,LOC100130452,LOC100507140,MARS2,MOB4,MPP4,NDUFB3,NIF3L1,NOP58,ORC2,PGAP1,PLCL1,PPIL3,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORD11,SNORD11B,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5 chr2 197100000 205600000 Loss Breast cancer aCGH 21045282 ABI2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CD28,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,CTLA4,CYP20A1,FAM117B,FAM126B,FONG,FZD7,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,KCTD18,LOC100130452,LOC100507140,MARS2,MOB4,MPP4,NBEAL1,NDUFB3,NIF3L1,NOP58,ORC2,PARD3B,PGAP1,PLCL1,PPIL3,RAPH1,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORD11,SNORD11B,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5,WDR12 chr2 197100000 209100000 Copy number Papillary thyroid carcinoma QRT-PCR 22161024 ABI2,ADAM23,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,C2orf80,CASP10,CASP8,CCDC150,CCNYL1,CD28,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,CPO,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,CTLA4,CYP20A1,DYTN,EEF1B2,FAM117B,FAM126B,FASTKD2,FONG,FZD5,FZD7,GCSHP3,GPR1,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,INO80D,KCTD18,KLF7,LOC100130452,LOC100507140,LOC100507443,LOC200726,MARS2,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,MOB4,MPP4,NBEAL1,NDUFB3,NDUFS1,NIF3L1,NOP58,NRP2,ORC2,PARD3B,PGAP1,PLCL1,PLEKHM3,PPIL3,RAPH1,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORA41,SNORD11,SNORD11B,SNORD51,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5,WDR12,ZDBF2 chr2 197100000 242951149 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,CAB39,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DTYMK,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FARP2,FARSB,FASTKD2,FBXO36,FEV,FLJ43879,FN1,FONG,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,HDAC4,HDLBP,HECW2,HES6,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP5D,IQCA1,IRS1,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MTERFD2,MYEOV2,MYL1,NBEAL1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,OTOS,PARD3B,PASK,PAX3,PDCD1,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHM3,PNKD,PP14571,PPIL3,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK25,STK36,STRADB,SUMO1,THAP4,TIGD1,TM4SF20,TMBIM1,TMEM169,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WNT10A,WNT6,XRCC5,ZDBF2,ZFAND2B,ZNF142 chr2 197194406 197194542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECW2 chr21 9719768 9905289 Gain Normal TaqMan assays 20972442 MIR3648,MIR3687 chr2 1972031 2854391 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC730811,MYT1L chr2 197212601 197305775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr2 197212601 197305775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr21 9721556 10208131 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MIR3648,MIR3687,TEKT4P2 chr2 197259117 197259299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr2 197294337 197294337 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HECW2 chr2 19730135 19730235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 197314816 197348256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HECW2 chr2 197322862 197323193 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HECW2 chr2 197329862 197358164 Gain and loss Pancreatic cancer SNP array 17952125 HECW2 chr2 197336029 197370291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HECW2 chr2 197336917 197372628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr2 197336917 197372628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr2 197347921 197348014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECW2 chr2 197376376 197376560 Gain and loss Pancreatic cancer SNP array 17952125 HECW2 chr2 197376392 197376557 Gain and loss Pancreatic cancer SNP array 17952125 HECW2 chr2 197378214 197383245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr2 197378214 197383245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr2 197400000 204900000 Loss Myelodysplastic syndrome Array CGH 18663149 ABI2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CD28,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,CTLA4,CYP20A1,FAM117B,FAM126B,FONG,FZD7,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,KCTD18,LOC100130452,LOC100507140,MARS2,MOB4,MPP4,NBEAL1,NDUFB3,NIF3L1,NOP58,ORC2,PGAP1,PLCL1,PPIL3,RAPH1,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORD11,SNORD11B,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5,WDR12 chr2 197400000 209000000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ABI2,ADAM23,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CCNYL1,CD28,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,CPO,CREB1,CRYGC,CRYGD,CTLA4,CYP20A1,DYTN,EEF1B2,FAM117B,FAM126B,FASTKD2,FONG,FZD5,FZD7,GCSHP3,GPR1,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,INO80D,KCTD18,KLF7,LOC100130452,LOC100507140,LOC100507443,LOC200726,MARS2,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,MOB4,MPP4,NBEAL1,NDUFB3,NDUFS1,NIF3L1,NOP58,NRP2,ORC2,PARD3B,PGAP1,PLCL1,PLEKHM3,PPIL3,RAPH1,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORA41,SNORD11,SNORD11B,SNORD51,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5,WDR12,ZDBF2 chr2 197400000 209000000 Deletion Hepatocellular carcinoma Array CGH 16750200 ABI2,ADAM23,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CCNYL1,CD28,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,CPO,CREB1,CRYGC,CRYGD,CTLA4,CYP20A1,DYTN,EEF1B2,FAM117B,FAM126B,FASTKD2,FONG,FZD5,FZD7,GCSHP3,GPR1,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,INO80D,KCTD18,KLF7,LOC100130452,LOC100507140,LOC100507443,LOC200726,MARS2,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,MOB4,MPP4,NBEAL1,NDUFB3,NDUFS1,NIF3L1,NOP58,NRP2,ORC2,PARD3B,PGAP1,PLCL1,PLEKHM3,PPIL3,RAPH1,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORA41,SNORD11,SNORD11B,SNORD51,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5,WDR12,ZDBF2 chr2 197400000 209000000 Loss Prostate cancer Array CGH 16573809 ABI2,ADAM23,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKRD44,AOX1,AOX2P,BMPR2,BOLL,BZW1,C2orf47,C2orf66,C2orf69,CASP10,CASP8,CCDC150,CCNYL1,CD28,CDK15,CFLAR,CFLAR-AS1,CLK1,COQ10B,CPO,CREB1,CRYGC,CRYGD,CTLA4,CYP20A1,DYTN,EEF1B2,FAM117B,FAM126B,FASTKD2,FONG,FZD5,FZD7,GCSHP3,GPR1,GTF3C3,HECW2,HSPD1,HSPE1,HSPE1-MOB4,ICA1L,ICOS,INO80D,KCTD18,KLF7,LOC100130452,LOC100507140,LOC100507443,LOC200726,MARS2,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,MOB4,MPP4,NBEAL1,NDUFB3,NDUFS1,NIF3L1,NOP58,NRP2,ORC2,PARD3B,PGAP1,PLCL1,PLEKHM3,PPIL3,RAPH1,RFTN2,SATB2,SATB2-AS1,SF3B1,SGOL2,SNORA41,SNORD11,SNORD11B,SNORD51,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5,WDR12,ZDBF2 chr2 197400000 243199373 Deletion Adenoid cystic carcinoma Array CGH 18698036 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,ANKMY1,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,BOK,BOK-AS1,BOLL,BZW1,C2orf47,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf80,C2orf82,C2orf83,CAB39,CAPN10,CASP10,CASP8,CCDC108,CCDC140,CCDC150,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CFLAR,CFLAR-AS1,CHPF,CHRND,CHRNG,CLK1,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,COQ10B,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP20A1,CYP27A1,D2HGDH,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DTYMK,DUSP28,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM126B,FAM134A,FARP2,FARSB,FASTKD2,FBXO36,FEV,FLJ43879,FN1,FONG,FZD5,FZD7,GAL3ST2,GBX2,GCSHP3,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR1,GPR35,GPR55,GTF3C3,HDAC4,HDLBP,HECW2,HES6,HJURP,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INO80D,INPP5D,IQCA1,IRS1,ITM2C,KANSL1L,KCNE4,KCNJ13,KCTD18,KIF1A,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100130452,LOC100286922,LOC100507140,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC348761,LOC643387,LOC646736,LOC728323,LRRFIP1,MAP2,MARCH4,MARS2,MDH1B,METTL21A,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOB4,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MTERFD2,MYEOV2,MYL1,NBEAL1,NCL,NDUFA10,NDUFB3,NDUFS1,NEU2,NEU4,NGEF,NHEJ1,NIF3L1,NMUR1,NOP58,NPPC,NRP2,NYAP2,OBSL1,OR6B2,OR6B3,ORC2,OTOS,PARD3B,PASK,PAX3,PDCD1,PDE6D,PECR,PER2,PGAP1,PID1,PIKFYVE,PKI55,PLCD4,PLCL1,PLEKHM3,PNKD,PP14571,PPIL3,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RFTN2,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SF3B1,SGOL2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNED1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPATS2L,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK25,STK36,STRADB,SUMO1,THAP4,TIGD1,TM4SF20,TMBIM1,TMEM169,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRAK2,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,TYW5,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WNT10A,WNT6,XRCC5,ZDBF2,ZFAND2B,ZNF142 chr2 197403434 197423022 Gain and loss Pancreatic cancer SNP array 17952125 HECW2 chr2 197405973 197500764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr2 197405973 197500764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HECW2 chr2 197408899 197408974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HECW2 chr2 197454178 197489871 Gain and loss Pancreatic cancer SNP array 17952125 HECW2 chr2 197461934 197807713 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf66,CCDC150,GTF3C3,LOC100130452,PGAP1 chr21 9747001 9758500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 197482364 197482464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19748412 19748547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19748420 19748520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 197490815 197490915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 197493197 197493305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 197495475 197500506 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 9750000 9870000 Deletion Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 MIR3648,MIR3687 chr2 197525423 197616885 Gain and loss Pancreatic cancer SNP array 17952125 CCDC150,LOC100130452 chr2 197540248 197540348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC150 chr2 197557421 198665433 LOH Normal High-resolution SNP genotyping 21211785 ANKRD44,BOLL,C2orf66,CCDC150,COQ10B,GTF3C3,HSPD1,HSPE1,HSPE1-MOB4,LOC100130452,MARS2,MOB4,PGAP1,RFTN2,SF3B1 chr2 197559667 197559734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC150 chr2 19756266 19756366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 197566547 197883756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44,C2orf66,CCDC150,GTF3C3,LOC100130452,PGAP1 chr2 197566547 197883756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44,C2orf66,CCDC150,GTF3C3,LOC100130452,PGAP1 chr2 197576293 198196671 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD44,C2orf66,CCDC150,GTF3C3,LOC100130452,PGAP1 chr21 9758501 9764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr21 9758730 10010294 Duplication Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10010294 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10024505 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10024505 Duplication Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10032245 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10091299 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10148059 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10185786 Duplication Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10185786 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 10195652 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9952290 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9962501 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9962501 Duplication Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9962501 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9962501 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9975985 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9975985 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9976048 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9976048 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9978011 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9978011 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758730 9978011 Duplication Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9758742 10197783 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MIR3648,MIR3687,TEKT4P2 chr21 9758742 13516106 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr21 9758742 13525448 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr21 9758742 9777595 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr21 9758742 9952302 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MIR3648,MIR3687,TEKT4P2 chr21 9758742 9965425 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MIR3648,MIR3687,TEKT4P2 chr21 9758742 9975330 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MIR3648,MIR3687,TEKT4P2 chr21 9758742 9978023 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MIR3648,MIR3687,TEKT4P2 chr21 9758742 9985775 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MIR3648,MIR3687,TEKT4P2 chr21 9758743 13439443 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3648,MIR3687,TEKT4P2,TPTE chr2 197618211 197713604 Indels Normal Affymetrix and Illumina arrays 20811451 C2orf66,GTF3C3,PGAP1 chr21 9764501 9766500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 197657251 198001001 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD44,C2orf66,GTF3C3,PGAP1 chr21 9766501 9771000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 197675859 197675959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 9771001 9790000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 197719547 197719647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGAP1 chr2 197753873 197753973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PGAP1 chr21 9777595 9965425 Gain Normal Birdsuite, version 1.5.2 22087296 MIR3648,MIR3687,TEKT4P2 chr21 9781000 9976048 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr21 9781000 9978011 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR3648,MIR3687,TEKT4P2 chr2 197839216 198777692 LOH Normal High-resolution SNP genotyping 21211785 ANKRD44,BOLL,COQ10B,HSPD1,HSPE1,HSPE1-MOB4,MARS2,MOB4,PLCL1,RFTN2,SF3B1 chr2 197866567 197866640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD44 chr2 197917096 197917181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD44 chr21 9794501 9882500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3648,MIR3687 chr2 197952670 197953861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr21 9796341 9797589 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 197964945 198008048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 197964945 198008048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr21 9797746 9805689 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 197977687 197977823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 197997071 198254315 Gain Autism Exome sequencing and CGH 22495309 ANKRD44 chr2 198020714 198020820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198026462 198048096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198026462 198048096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198039165 198070691 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD44 chr2 198059555 198073243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198059555 198073243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr21 9806484 9807872 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 198073109 198076351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198073109 198076351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198082206 198125229 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD44 chr2 198088550 198125750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198088550 198125750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198088564 198125760 Gain or loss Breast cancer - 20668451 ANKRD44 chr2 198088564 198125760 Gain or loss Cancer - 20668451 ANKRD44 chr2 198088564 198125760 Gain or loss Lung cancer - 20668451 ANKRD44 chr2 198088564 198125760 Gain or loss Ovarian cancer - 20668451 ANKRD44 chr2 198088564 198125760 Gain or loss Pancreas cancer - 20668451 ANKRD44 chr2 198088564 198125760 Gain or loss Prostate cancer - 20668451 ANKRD44 chr2 198094948 198095084 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD44 chr2 198094949 198095083 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD44 chr2 19809824 19842681 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 198116345 198116415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198126731 198126831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD44 chr2 198134647 198134747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD44 chr2 198137975 198138081 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD44 chr21 9813848 9814823 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 198143737 198165357 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD44 chr2 198143773 198248961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 198143773 198248961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD44 chr2 19814762 19814862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 198176816 198190504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 198190553 198193610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 198205826 198242838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 9823340 9826454 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MIR3648,MIR3687 chr2 198233606 198233676 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 198248 207353709 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AAK1,ABCB11,ABCG5,ABCG8,ABHD1,ABI2,ACMSD,ACOXL,ACP1,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADAM23,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGBL5,AGPS,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANTXR1,ANXA4,AOX1,AOX2P,APLF,APOB,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASAP2,ASB3,ASNSD1,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,BAZ2B,BBS5,BCL11A,BCL2L11,BIN1,BIRC6,BMP10,BMPR2,BOLA3,BOLA3-AS1,BOLL,BRE,BRE-AS1,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf47,C2orf48,C2orf49,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf66,C2orf68,C2orf69,C2orf70,C2orf71,C2orf73,C2orf74,C2orf76,C2orf78,C2orf81,C2orf88,C2orf91,CACNB4,CAD,CALCRL,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CASP10,CASP8,CBWD2,CCDC104,CCDC115,CCDC121,CCDC138,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCNT2,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHRNA1,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CLK1,CMPK2,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL5A2,COLEC11,COMMD1,COQ10B,COX5B,COX7A2L,CPSF3,CREG2,CRIM1,CRIPT,CSRNP3,CTLA4,CTNNA2,CWC22,CXCR4,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27C1,CYP4F30P,CYS1,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DFNB59,DGUOK,DHRS9,DHX57,DIRC1,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP19,DUSP2,DYNC1I2,DYNC2LI1,DYSF,E2F6,EDAR,EEF1B2,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPT1,ERCC3,ERLEC1,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM126B,FAM136A,FAM138B,FAM150B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FASTKD1,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FMNL2,FNDC4,FONG,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,FZD7,G6PC2,GAD1,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GCKR,GCSHP3,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GLS,GMCL1,GNLY,GORASP2,GPAT2,GPD2,GPN1,GPR1,GPR113,GPR148,GPR155,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GTF3C3,GULP1,GYPC,HAAO,HADHA,HADHB,HAT1,HEATR5B,HECW2,HIBCH,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTRA2,IAH1,ICA1L,ICOS,ID2,IFIH1,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INSIG2,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITPRIPL1,ITSN2,IWS1,KANSL3,KBTBD10,KCMF1,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KCNK3,KCNS3,KCTD18,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF3C,KIF5C,KLF11,KLHL23,KLHL29,KRCC1,KRTCAP3,KYNU,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LIPT1,LMAN2L,LOC100129726,LOC100129961,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507140,LOC100507334,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC645949,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH7,MARCO,MARS2,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL5,METTL8,MFSD2B,MFSD6,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3127,MIR3128,MIR3129,MIR3606,MIR3679,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR548N,MIR558,MIR559,MIR561,MIR5696,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOB4,MOGS,MORN2,MPHOSPH10,MPP4,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MSTN,MTA3,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYO1B,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBAS,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCOA1,NDUFB3,NDUFS1,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NIF3L1,NLRC4,NMI,NMS,NOL10,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRBP1,NRP2,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,ODC1,OLA1,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OSR1,OST4,OTOF,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCL3,PDE11A,PDE1A,PDIA6,PDK1,PELI1,PEX13,PFN4,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PIGF,PKDCC,PKP4,PLA2R1,PLB1,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PMS1,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PPIG,PPIL3,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PRKRA,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTPN18,PTPN4,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RASGRP3,RBKS,RBM43,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNU4ATAC,RNU6-81,ROCK2,RPIA,RPL23AP32,RPL23AP7,RPL31,RPRM,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SAP130,SATB2,SATB2-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SDPR,SEMA4C,SEMA4F,SEPT10,SERTAD2,SESTD1,SF3B1,SF3B14,SFT2D3,SFTPB,SFXN5,SGOL2,SH2D6,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC1A4,SLC20A1,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA80B,SNORD11,SNORD11B,SNORD51,SNORD53,SNORD70,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP3,SP5,SP9,SPAST,SPATS2L,SPC25,SPDYA,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK17B,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLK1,TLX2,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM194B,TMEM214,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TP53I3,TPO,TPRKB,TRABD2A,TRAK2,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTN,TTN-AS1,TUBA3D,TUBA3E,TXNDC9,TYW5,UBE2E3,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UNC50,UNQ6975,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WASH2P,WBP1,WDPCP,WDR12,WDR33,WDR35,WDR43,WDR54,WDR75,WDR92,WDSUB1,WIPF1,WTH3DI,XDH,XIRP2,XPO1,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFP36L2,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr21 9825057 9830023 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MIR3648,MIR3687 chr21 9825665 9825697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 198261034 198366090 Gain and loss Pancreatic cancer SNP array 17952125 COQ10B,HSPD1,HSPE1,HSPE1-MOB4,SF3B1 chr2 198266075 198347792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COQ10B,SF3B1 chr2 198278001 198280000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SF3B1 chr2 198278332 198281358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SF3B1 chr2 198278332 198281358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SF3B1 chr2 198299856 198359183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COQ10B,HSPD1 chr2 198299856 198359183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COQ10B,HSPD1 chr21 9830257 9831811 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr21 9832633 9834370 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 198338220 198370769 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COQ10B,HSPD1,HSPE1,HSPE1-MOB4 chr21 9836857 9839168 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 198373765 198868502 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BOLL,HSPE1-MOB4,MARS2,MOB4,PLCL1,RFTN2 chr2 198373765 199294674 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BOLL,HSPE1-MOB4,MARS2,MOB4,PLCL1,RFTN2 chr21 9838887 9840492 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 198395593 198398615 Gain and loss Pancreatic cancer SNP array 17952125 HSPE1-MOB4,MOB4 chr2 19839859 19839959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 198417119 198476444 Gain and loss Pancreatic cancer SNP array 17952125 HSPE1-MOB4,MOB4,RFTN2 chr21 9843157 9844501 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 19850733 19851288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr21 9852922 9854663 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr21 9854675 9869070 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 19855924 19856013 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 198577124 198577224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 198593581 198593672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BOLL chr2 198602758 198602894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BOLL chr2 198630370 198662841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BOLL chr21 9863315 9878066 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 198656724 198721293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLCL1 chr2 198656724 198721293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCL1 chr2 198669168 199341602 LOH Normal High-resolution SNP genotyping 21211785 PLCL1 chr2 198712493 198712593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCL1 chr2 19872437 19872521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 198763447 198763550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCL1 chr2 198763461 198763611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCL1 chr2 198769594 198814891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCL1 chr2 198774042 198838626 Gain and loss Pancreatic cancer SNP array 17952125 PLCL1 chr21 9882501 9985500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TEKT4P2 chr21 9884493 9884938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 9884493 9884938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 9886062 9969723 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TEKT4P2 chr21 9886917 10198154 Loss or gain Normal 244K array 17666407 TEKT4P2 chr21 9887804 23765015 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCC13,ANKRD20A11P,ANKRD30BP2,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BTG3,C21orf15,C21orf37,C21orf91,C21orf91-OT1,CHODL,CHODL-AS1,CXADR,HSPA13,LINC00308,LINC00317,LINC00320,LINC00478,LIPI,LOC388813,MIR125B2,MIR3156-3,MIR99A,MIRLET7C,NCAM2,NRIP1,POTED,RBM11,RNU6-67,SAMSN1,SAMSN1-AS1,TEKT4P2,TMPRSS15,TPTE,USP25 chr21 9887804 46894358 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ADARB1,AGPAT3,AIRE,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf2,C21orf33,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf67,C21orf7,C21orf88,C21orf90,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,COL18A1,COL18A1-AS1,COL18A1-AS2,CRYAA,CRYZL1,CSTB,CXADR,CYYR1,D21S2088E,DNAJC28,DNMT3L,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM207A,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSF2BP,HSPA13,HUNK,ICOSLG,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITGB2,ITGB2-AS1,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP11-1,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00162,LINC00163,LINC00189,LINC00307,LINC00308,LINC00310,LINC00313,LINC00314,LINC00317,LINC00319,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC284837,LOC339622,LOC388813,LOC642852,LRRC3,LRRC3-AS1,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PDXK,PFKL,PIGP,PKNOX1,PLAC4,POFUT2,POTED,PRDM15,PSMG1,PTTG1IP,PWP2,RBM11,RCAN1,RIPK4,RNU6-67,RRP1,RRP1B,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIK1,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SSR4P1,SUMO3,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TRAPPC10,TRPM2,TSPEAR,TTC3,U2AF1,UBASH3A,UBE2G2,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr21 9887804 9984282 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 TEKT4P2 chr2 19889491 19889817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 9893990 9894300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 198955117 198955303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCL1 chr2 198961285 198995793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCL1 chr2 19896244 19896334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 9896630 13600286 Loss Urothelial carcinoma array CGH validated by FISH 21177765 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TEKT4P2,TPTE chr2 198973079 199934558 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLCL1 chr2 198995134 198995234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCL1 chr2 1990521 2023118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYT1L chr2 199071218 199085659 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 19908037 19908493 Gain Normal 244K array 17666407 NOT_FOUND chr21 9915000 44692000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCC13,ABCG1,ADAMTS1,ADAMTS5,ANKRD20A11P,ANKRD30BP2,APP,ATP5J,ATP5O,B3GALT5,BACE2,BACH1,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,BRWD1,BRWD1-AS1,BRWD1-IT2,BTG3,C21orf119,C21orf128,C21orf15,C21orf37,C21orf49,C21orf54,C21orf59,C21orf62,C21orf7,C21orf88,C21orf91,C21orf91-OT1,C2CD2,CBR1,CBR3,CBR3-AS1,CBS,CCT8,CHAF1B,CHODL,CHODL-AS1,CLDN14,CLDN17,CLDN8,CLIC6,CRYAA,CRYZL1,CXADR,CYYR1,D21S2088E,DNAJC28,DONSON,DOPEY2,DSCAM,DSCAM-AS1,DSCAM-IT1,DSCR10,DSCR3,DSCR4,DSCR6,DSCR8,DSCR9,DYRK1A,ERG,ETS2,FAM165B,FAM176C,FAM3B,GABPA,GART,GCFC1,GCFC1-AS1,GRIK1,GRIK1-AS1,GRIK1-AS2,HLCS,HMGN1,HSPA13,HUNK,IFNAR1,IFNAR2,IFNGR2,IGSF5,IL10RB,ITSN1,JAM2,KCNE1,KCNE2,KCNJ15,KCNJ6,KRTAP11-1,KRTAP13-1,KRTAP13-2,KRTAP13-3,KRTAP13-4,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-6,KRTAP19-7,KRTAP19-8,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP6-1,KRTAP6-2,KRTAP6-3,KRTAP7-1,KRTAP8-1,LCA5L,LINC00111,LINC00112,LINC00113,LINC00114,LINC00158,LINC00159,LINC00160,LINC00161,LINC00189,LINC00307,LINC00308,LINC00310,LINC00314,LINC00317,LINC00320,LINC00323,LINC00478,LINC00479,LINC00515,LINC00649,LIPI,LOC100133286,LOC100288432,LOC100506385,LOC339622,LOC388813,LTN1,MIR125B2,MIR155,MIR155HG,MIR3156-3,MIR3197,MIR4327,MIR4759,MIR4760,MIR5009,MIR802,MIR99A,MIRLET7C,MIS18A,MORC3,MRAP,MRPL39,MRPS6,MX1,MX2,N6AMT1,NCAM2,NDUFV3,NRIP1,OLIG1,OLIG2,PCP4,PDE9A,PIGP,PKNOX1,PLAC4,POTED,PRDM15,PSMG1,RBM11,RCAN1,RIPK4,RNU6-67,RSPH1,RUNX1,RUNX1-IT1,RWDD2B,SAMSN1,SAMSN1-AS1,SCAF4,SETD4,SH3BGR,SIM2,SLC37A1,SLC5A3,SNORA80,SOD1,SON,SYNJ1,TCP10L,TEKT4P2,TFF1,TFF2,TFF3,TIAM1,TMEM50B,TMPRSS15,TMPRSS2,TMPRSS3,TPTE,TTC3,U2AF1,UBASH3A,UMODL1,URB1,USP16,USP25,WDR4,WRB,ZNF295,ZNF295-AS1 chr2 199152159 199152259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 9917388 10023771 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TEKT4P2 chr21 9920828 9953319 Gain Normal TaqMan assays 20972442 TEKT4P2 chr21 9920953 9921876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT4P2 chr2 199227977 199228066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 9928081 10012775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEKT4P2 chr21 9928081 10012775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT4P2 chr21 9928081 10012791 Gain and loss Pancreatic cancer SNP array 17952125 TEKT4P2 chr21 9928680 10010094 Gain Autism 1M Ailent CGH whole-genome array 21865298 TEKT4P2 chr21 9928680 9955808 Loss Autism 1M Ailent CGH whole-genome array 21865298 TEKT4P2 chr2 199344121 199388997 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 199388782 199388867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 1994269 2003300 Copy number Autism exome sequencing 22495311 MYT1L chr2 19947638 19947964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 199521930 200410581 LOH Normal High-resolution SNP genotyping 21211785 SATB2,SATB2-AS1 chr2 199534662 200281734 LOH Normal High-resolution SNP genotyping 21211785 SATB2 chr2 1995721 1995815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYT1L chr21 9957847 9958038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEKT4P2 chr2 19959885 19965228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 19959885 19965228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 19960001 19965228 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 199612999 199613097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 19961701 21150800 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf43,FLJ12334,GDF7,HS1BP3,LAPTM4A,MATN3,PUM2,RHOB,SDC1,TTC32,WDR35 chr2 199652905 200183133 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SATB2 chr21 9965425 9975295 Gain Normal Birdsuite, version 1.5.2 22087296 TEKT4P2 chr2 199719417 204118461 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AOX1,AOX2P,BMPR2,BZW1,C2orf47,C2orf69,CASP10,CASP8,CDK15,CFLAR,CFLAR-AS1,CLK1,CYP20A1,FAM117B,FAM126B,FONG,FZD7,ICA1L,KCTD18,LOC100507140,MPP4,NBEAL1,NDUFB3,NIF3L1,NOP58,ORC2,PPIL3,SATB2,SATB2-AS1,SGOL2,SNORD11,SNORD11B,SNORD70,SPATS2L,STRADB,SUMO1,TMEM237,TRAK2,TYW5,WDR12 chr2 19973512 20053373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 19973512 20053373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 19973512 20053373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 9975295 9978023 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 199779691 199779916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 199779884 199779916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 9978023 10021367 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 1997941 1998006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYT1L chr2 199805679 199805779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 199807502 199807602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 199812064 199812164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 199837205 200020800 Deletion 2q33.1 microdeletion syndrome high-density 105K oligonucleotide microarray 19668335 NOT_FOUND chr2 199842476 200038076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 199842476 200038076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr21 9984282 14824157 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ANKRD30BP2,BAGE,BAGE2,BAGE3,BAGE4,BAGE5,MIR3156-3,TPTE chr2 199843078 200045024 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 199853885 199853978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 9985501 9986500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 199860027 200045201 Deletion 2q33.1 microdeletion syndrome high-density 107K oligonucleotide microarray,aCGH,BAC microarray,fluorescence in situ hybridization (FISH),105K-feature whole-genome microarray,Agilent Feature Extraction software v9.5.1,Agilent CGH Analytics software v3.5.14 19668335 NOT_FOUND chr2 199860227 200033309 Deletion 2q33.1 microdeletion syndrome high-density 106K oligonucleotide microarray 19668335 NOT_FOUND chr21 9986501 10010500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 199881289 199881349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr21 9991012 9991309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 19992560 19992640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr21 9993235 10195652 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 199943597 201740672 Deletion Autism Illumina HumanHap552 BeadChip 20858243 AOX1,AOX2P,BZW1,C2orf47,C2orf69,CLK1,FONG,KCTD18,LOC100507140,PPIL3,SATB2,SATB2-AS1,SGOL2,SPATS2L,TYW5 chr2 199947808 199947908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 199954731 199990064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 199959730 200150707 Gain and loss Pancreatic cancer SNP array 17952125 SATB2 chr21 9998541 10185786 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr21 9998541 10195652 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 1999875 1999967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYT1L chr2 200000399 200000499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200012916 200013016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200020702 200020925 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 200022970 202205424 LOH Normal High-resolution SNP genotyping 21211785 ALS2CR12,AOX1,AOX2P,BZW1,C2orf47,C2orf69,CASP10,CASP8,CFLAR,CFLAR-AS1,CLK1,FAM126B,FONG,KCTD18,LOC100507140,NDUFB3,NIF3L1,ORC2,PPIL3,SATB2,SATB2-AS1,SGOL2,SPATS2L,TYW5 chr2 200028501 200044500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 200028966 200029051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200070513 200070613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 20007565 20007665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200076 237503 Loss Normal Birdsuite, version 1.5.2 22087296 SH3YL1 chr2 20008266 20025403 Deletion Normal - 21790672 NOT_FOUND chr2 200118536 200118636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200154820 200154915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SATB2 chr2 200155637 200155737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SATB2 chr2 200159153 200159253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SATB2 chr2 200160125 200167164 Gain and loss Pancreatic cancer SNP array 17952125 SATB2 chr2 200166025 200197733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SATB2 chr2 200176743 200176802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SATB2 chr2 20017933 20018011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 20018148 20023375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 200226226 200226290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SATB2 chr2 200232535 200233665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SATB2 chr2 200232535 200233665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SATB2 chr2 200238632 200238722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SATB2 chr2 200238646 200238738 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SATB2 chr2 200312188 200312220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SATB2 chr2 20031659 20111520 Gain and loss Pancreatic cancer SNP array 17952125 FLJ12334,TTC32,WDR35 chr2 200349796 200350926 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 200356309 200356379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200410033 200798257 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf69,FONG,TYW5 chr2 200410033 201562420 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AOX1,AOX2P,C2orf47,C2orf69,FONG,KCTD18,SGOL2,SPATS2L,TYW5 chr2 200456344 200456444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200473570 200473640 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 200474049 200474344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200474051 200474345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200484268 200500276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200501883 200528468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200501883 200528468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200528285 200537093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200528285 200537093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 20055353 20075936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ12334 chr2 20055353 20075936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ12334 chr2 200561670 200665174 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FONG chr2 20056353 20075936 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ12334 chr2 200591310 200591605 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 200601535 200618498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 200620223 200645965 Gain and loss Pancreatic cancer SNP array 17952125 FONG chr2 200645546 200654345 Gain and loss Pancreatic cancer SNP array 17952125 FONG chr2 200671738 200691514 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FONG chr2 200747958 200748058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200783856 202586189 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALS2,ALS2CR11,ALS2CR12,AOX1,AOX2P,BZW1,C2orf47,C2orf69,CASP10,CASP8,CFLAR,CFLAR-AS1,CLK1,FAM126B,KCTD18,LOC100507140,MPP4,NDUFB3,NIF3L1,ORC2,PPIL3,SGOL2,SPATS2L,STRADB,TMEM237,TRAK2,TYW5 chr2 20086406 20086450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200878861 201055224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200878861 201055224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200884505 200884550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200886685 200886785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 200946143 200946237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 20095894 20114926 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TTC32,WDR35 chr2 20095894 20114926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC32,WDR35 chr2 20095894 20114926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC32,WDR35 chr2 200960143 200960232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 200960887 201006214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 200961376 200962254 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 200997194 200997294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 201036563 201081239 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 201061926 201083037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 201061926 201083037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 201063404 201063497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 201063405 201063496 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 201099135 201156742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 201099135 201156742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 201102537 201168758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20114500 20134083 Gain and loss Pancreatic cancer SNP array 17952125 WDR35 chr2 201158436 201158528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 201158976 201244460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATS2L chr2 201158976 201244460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATS2L chr2 201179192 201200298 Gain and loss Pancreatic cancer SNP array 17952125 SPATS2L chr2 20120337 22547243 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APOB,C2orf43,GDF7,HS1BP3,LAPTM4A,LOC645949,MATN3,PUM2,RHOB,SDC1,WDR35 chr2 201216386 201281208 Gain and loss Pancreatic cancer SNP array 17952125 SPATS2L chr2 201229517 201229582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATS2L chr2 201246292 201246392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATS2L chr2 201255742 201257138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATS2L chr2 201276044 201361519 Gain and loss Pancreatic cancer SNP array 17952125 KCTD18,SPATS2L chr2 201348552 201348718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 201373051 201373425 Gain and loss Pancreatic cancer SNP array 17952125 KCTD18 chr2 201384514 201396814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGOL2 chr2 201384514 201396814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGOL2 chr2 201393170 201393253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGOL2 chr2 201399596 201399688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SGOL2 chr2 201402977 201403084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGOL2 chr2 201416154 201416267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGOL2 chr2 201416164 201437667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGOL2 chr2 201416164 201437667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGOL2 chr2 201422006 201422112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGOL2 chr2 201425977 201434830 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 SGOL2 chr2 201441656 201441751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGOL2 chr2 201443923 201460583 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 AOX1,SGOL2 chr2 201443925 201462271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AOX1,SGOL2 chr2 201443925 201462271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX1,SGOL2 chr2 201454683 201454789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX1 chr2 201462340 201476898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AOX1 chr2 201462340 201476898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX1 chr2 201465813 201465980 Gain and loss Pancreatic cancer SNP array 17952125 AOX1 chr2 201465814 201465978 Gain and loss Pancreatic cancer SNP array 17952125 AOX1 chr2 201471988 201472088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX1 chr2 201477146 201477507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX1 chr2 201483140 201536655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AOX1 chr2 201483140 201536655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX1 chr2 201501819 201514074 Gain and loss Pancreatic cancer SNP array 17952125 AOX1 chr2 201504767 201710498 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 AOX1,AOX2P,BZW1,LOC100507140 chr2 201520238 201520345 Gain and loss Pancreatic cancer SNP array 17952125 AOX1 chr2 201533425 201554920 Gain and loss Pancreatic cancer SNP array 17952125 AOX1 chr2 20154041 20173073 Gain and loss Pancreatic cancer SNP array 17952125 WDR35 chr2 201546553 201546653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 201552032 201644637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AOX2P,LOC100507140 chr2 201552032 201644637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX2P,LOC100507140 chr2 201553384 201553476 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 201561186 201579505 Gain and loss Pancreatic cancer SNP array 17952125 AOX2P,LOC100507140 chr2 201571944 201572050 Gain and loss Pancreatic cancer SNP array 17952125 AOX2P chr2 201571946 201572050 Gain and loss Pancreatic cancer SNP array 17952125 AOX2P chr2 201579597 201594159 Gain and loss Pancreatic cancer SNP array 17952125 AOX2P,LOC100507140 chr2 201587099 201632715 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AOX2P,LOC100507140 chr2 201589249 201589349 Gain and loss Pancreatic cancer SNP array 17952125 AOX2P,LOC100507140 chr2 201600401 201653916 Gain and loss Pancreatic cancer SNP array 17952125 AOX2P chr2 201631944 201632044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AOX2P chr2 201644759 201658716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AOX2P chr2 201644759 201658716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX2P chr2 201652810 201652912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AOX2P chr2 201668722 201761894 Gain and loss Pancreatic cancer SNP array 17952125 BZW1,CLK1,NIF3L1,PPIL3 chr2 201670712 201671059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 201689135 201737246 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLK1,PPIL3 chr2 201689135 201737246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLK1,PPIL3 chr2 201726701 201726801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLK1 chr2 201742307 201744647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIL3 chr2 201753258 201754987 Gain and loss Pancreatic cancer SNP array 17952125 NIF3L1,PPIL3 chr2 201755865 201802355 Gain or loss Breast cancer - 20668451 NIF3L1,ORC2 chr2 201755865 201802355 Gain or loss Cancer - 20668451 NIF3L1,ORC2 chr2 201755865 201802355 Gain or loss Lung cancer - 20668451 NIF3L1,ORC2 chr2 201755865 201802355 Gain or loss Ovarian cancer - 20668451 NIF3L1,ORC2 chr2 201755865 201802355 Gain or loss Pancreas cancer - 20668451 NIF3L1,ORC2 chr2 201755865 201802355 Gain or loss Prostate cancer - 20668451 NIF3L1,ORC2 chr2 201755866 201802355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NIF3L1,ORC2 chr2 201755866 201802355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIF3L1,ORC2 chr2 201756757 201756857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NIF3L1 chr2 201762020 201775977 Gain and loss Pancreatic cancer SNP array 17952125 NIF3L1,ORC2 chr2 201766483 201766527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NIF3L1 chr2 201770071 201770173 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 201772913 201785527 Loss Normal Birdsuite, version 1.5.2 22087296 ORC2 chr2 201786056 201786126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ORC2 chr2 201786127 201786185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ORC2 chr2 201786186 201786253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ORC2 chr2 201787973 201788320 Gain and loss Pancreatic cancer SNP array 17952125 ORC2 chr2 201806396 201854508 Gain and loss Pancreatic cancer SNP array 17952125 FAM126B,ORC2 chr2 201806410 201860679 Gain or loss Breast cancer - 20668451 FAM126B,ORC2 chr2 201806410 201860679 Gain or loss Cancer - 20668451 FAM126B,ORC2 chr2 201806410 201860679 Gain or loss Lung cancer - 20668451 FAM126B,ORC2 chr2 201806410 201860679 Gain or loss Ovarian cancer - 20668451 FAM126B,ORC2 chr2 201806410 201860679 Gain or loss Pancreas cancer - 20668451 FAM126B,ORC2 chr2 201806410 201860679 Gain or loss Prostate cancer - 20668451 FAM126B,ORC2 chr2 201806411 201860679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM126B,ORC2 chr2 201806411 201860679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM126B,ORC2 chr2 201826724 201826819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ORC2 chr2 201827895 201829201 Gain and loss Pancreatic cancer SNP array 17952125 ORC2 chr2 201832134 201832195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 201833327 201833400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 201835318 201835381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 201852801 201859700 Deletion Glioma mate-paired sequence 20126413 FAM126B chr2 201854894 201857685 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM126B chr2 201859568 201861908 Gain and loss Pancreatic cancer SNP array 17952125 FAM126B chr2 201861239 201930346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM126B chr2 201861239 201930346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM126B chr2 201873361 201919616 Gain and loss Pancreatic cancer SNP array 17952125 FAM126B chr2 201903317 201903387 Gain and loss Pancreatic cancer SNP array 17952125 FAM126B chr2 201903388 201903446 Gain and loss Pancreatic cancer SNP array 17952125 FAM126B chr2 201903447 201903514 Gain and loss Pancreatic cancer SNP array 17952125 FAM126B chr2 201923692 201977937 Gain and loss Pancreatic cancer SNP array 17952125 FAM126B,NDUFB3 chr2 201950176 202024499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CFLAR,CFLAR-AS1,NDUFB3 chr2 201950176 202024499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFLAR,CFLAR-AS1,NDUFB3 chr2 201970709 201971098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 201978501 202041682 Gain and loss Pancreatic cancer SNP array 17952125 CFLAR,CFLAR-AS1 chr2 201984645 201985455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFLAR chr2 201993112 202586189 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALS2,ALS2CR11,ALS2CR12,CASP10,CASP8,CFLAR,CFLAR-AS1,MPP4,STRADB,TMEM237,TRAK2 chr2 201996481 201996572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFLAR chr2 20200860 20294981 Loss Stenocardia MACArray Karyo 96K BAC-chips 21860640 LAPTM4A,MATN3 chr2 20200860 20294981 Loss Vasospasm MACArray Karyo 96K BAC-chips 21860640 LAPTM4A,MATN3 chr2 202024637 202053819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASP10,CFLAR chr2 202024637 202053819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP10,CFLAR chr2 202060402 202192146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR12,CASP10,CASP8 chr2 202060402 202192146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR12,CASP10,CASP8 chr2 202067437 202141760 Gain and loss Pancreatic cancer SNP array 17952125 CASP10,CASP8 chr2 202081917 202083314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CASP10 chr2 202102065 202103022 Gain and loss Pancreatic cancer SNP array 17952125 CASP8 chr2 202113742 202113835 Gain and loss Pancreatic cancer SNP array 17952125 CASP8 chr2 202113743 202113829 Gain and loss Pancreatic cancer SNP array 17952125 CASP8 chr2 202122455 202122526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP8 chr2 202122532 202122599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP8 chr2 202123262 202123310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP8 chr2 202129004 202129070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP8 chr2 202129136 202129195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP8 chr2 202141898 202170956 Gain and loss Pancreatic cancer SNP array 17952125 ALS2CR12,CASP8 chr2 202149100 202183410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALS2CR12,CASP8 chr2 202177663 202309404 Gain and loss Pancreatic cancer SNP array 17952125 ALS2CR12,TRAK2 chr2 20218875 20219305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202193152 202216485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR12 chr2 202193152 202216485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR12 chr2 202217838 202271662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR12,TRAK2 chr2 202217838 202271662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR12,TRAK2 chr2 202217865 202271662 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALS2CR12,TRAK2 chr2 202219684 202219788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR12 chr2 202219684 202219789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR12 chr2 202239716 202239787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 202239793 202239860 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 202240523 202240571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 202246265 202246331 Gain and loss Pancreatic cancer SNP array 17952125 TRAK2 chr2 202246397 202246456 Gain and loss Pancreatic cancer SNP array 17952125 TRAK2 chr2 202250187 202250246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAK2 chr2 202256040 202256117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRAK2 chr2 202273522 202353983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALS2CR11,STRADB,TRAK2 chr2 202273522 202353983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR11,STRADB,TRAK2 chr2 202273522 202353983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR11,STRADB,TRAK2 chr2 20231001 20289500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAPTM4A chr2 202313929 202332949 Gain and loss Pancreatic cancer SNP array 17952125 STRADB,TRAK2 chr2 20232782 20712165 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LAPTM4A,PUM2,RHOB,SDC1 chr2 202335105 202388923 Gain and loss Pancreatic cancer SNP array 17952125 ALS2CR11,STRADB chr2 202336945 202337050 Gain and loss Pancreatic cancer SNP array 17952125 STRADB chr2 202363429 202468518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR11 chr2 202363429 202468518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR11 chr2 202379443 202466511 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALS2CR11 chr2 20238149 20270816 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LAPTM4A chr2 202381649 202381750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR11 chr2 20238588 20238878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAPTM4A chr2 202390301 240213754 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAMP,ABCA12,ABCB6,ABI2,ACADL,ACSL3,ADAM23,AGAP1,AGFG1,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR8,ANKZF1,AP1S3,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BMPR2,C2orf57,C2orf62,C2orf72,C2orf80,C2orf82,C2orf83,CAB39,CCDC108,CCDC140,CCL20,CCNYL1,CD28,CDK15,CDK5R2,CHPF,CHRND,CHRNG,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CPO,CPS1,CPS1-IT1,CREB1,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CTDSP1,CTLA4,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP20A1,CYP27A1,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DYTN,ECEL1,ECEL1P2,EEF1B2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM117B,FAM124B,FAM134A,FARSB,FASTKD2,FBXO36,FEV,FLJ43879,FN1,FZD5,FZD7,GBX2,GCSHP3,GIGYF2,GLB1L,GMPPA,GPBAR1,GPR1,GPR55,HDAC4,HES6,HJURP,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,INHA,INO80D,INPP5D,IQCA1,IRS1,ITM2C,KANSL1L,KCNE4,KCNJ13,KLF7,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100286922,LOC100507443,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MDH1B,METTL21A,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR153-1,MIR2355,MIR26B,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR375,MIR4268,MIR4439,MIR4440,MIR4441,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOGAT1,MPP4,MREG,MRPL44,MSL3P1,MYL1,NBEAL1,NCL,NDUFS1,NEU2,NGEF,NHEJ1,NMUR1,NOP58,NPPC,NRP2,NYAP2,OBSL1,PARD3B,PAX3,PDE6D,PECR,PER2,PID1,PIKFYVE,PKI55,PLCD4,PLEKHM3,PNKD,PRKAG3,PRLH,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RAPH1,RBM44,RESP18,RHBDD1,RNF25,RPE,RPL37A,RQCD1,RUFY4,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SERPINE2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNORA41,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK36,SUMO1,TIGD1,TM4SF20,TMBIM1,TMEM169,TMEM198,TMEM237,TNP1,TNS1,TRAF3IP1,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR12,WDR69,WNT10A,WNT6,XRCC5,ZDBF2,ZFAND2B,ZNF142 chr2 20239047 20239151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LAPTM4A chr2 202390783 202471244 Gain and loss Pancreatic cancer SNP array 17952125 ALS2CR11 chr2 202414097 202414198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR11 chr2 202423009 202423093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALS2CR11 chr2 202427801 202432100 Deletion Glioma mate-paired sequence 20126413 ALS2CR11 chr2 202429894 202430214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ALS2CR11 chr2 202496704 202583772 Gain and loss Pancreatic cancer SNP array 17952125 ALS2,MPP4,TMEM237 chr2 202498910 202499009 Gain and loss Pancreatic cancer SNP array 17952125 TMEM237 chr2 202498911 202499007 Gain and loss Pancreatic cancer SNP array 17952125 TMEM237 chr2 202500407 202500511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM237 chr2 202526225 202526304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPP4 chr2 202599253 202599353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALS2 chr2 202607501 202609500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALS2 chr2 202607554 202611405 Gain or loss Breast cancer - 20668451 ALS2 chr2 202607554 202611405 Gain or loss Cancer - 20668451 ALS2 chr2 202607554 202611405 Gain or loss Lung cancer - 20668451 ALS2 chr2 202607554 202611405 Gain or loss Ovarian cancer - 20668451 ALS2 chr2 202607554 202611405 Gain or loss Pancreas cancer - 20668451 ALS2 chr2 202607554 202611405 Gain or loss Prostate cancer - 20668451 ALS2 chr2 202607555 202611405 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALS2 chr2 202607555 202611405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2 chr2 202607555 202611405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2 chr2 202617662 202617772 Gain and loss Pancreatic cancer SNP array 17952125 ALS2 chr2 20264041 20288675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 20264041 20288675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202646257 202770830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK15 chr2 202646257 202770830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK15 chr2 202646282 202682633 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDK15 chr2 202654005 204695928 LOH Normal High-resolution SNP genotyping 21211785 ABI2,ALS2CR8,BMPR2,CD28,CDK15,CYP20A1,FAM117B,FZD7,ICA1L,NBEAL1,NOP58,RAPH1,SNORD11,SNORD11B,SNORD70,SUMO1,WDR12 chr2 202654843 202654946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 20265743 20266658 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 202686594 202690026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK15 chr2 202708684 202770830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDK15 chr2 202724816 202728666 Gain and loss Pancreatic cancer SNP array 17952125 CDK15 chr2 202763857 202799894 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20277022 20277452 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 202772104 202772207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 202774348 202774668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202779147 202811567 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 202779155 202811567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 202779155 202811567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202779155 202811567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202788345 202788440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 202812642 202845445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 202825945 202888091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 202836722 204159321 LOH Normal High-resolution SNP genotyping 21211785 ALS2CR8,BMPR2,CYP20A1,FAM117B,FZD7,ICA1L,NBEAL1,NOP58,SNORD11,SNORD11B,SNORD70,SUMO1,WDR12 chr2 202838702 202876596 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 202838760 202876627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202838760 202876627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202849399 202849486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202851076 202851160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202864197 203906650 Amplification Glioblastoma multiforme Array CGH 19115005 ALS2CR8,BMPR2,FAM117B,FZD7,ICA1L,NBEAL1,NOP58,SNORD11,SNORD11B,SNORD70,SUMO1,WDR12 chr2 202891609 202891923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 202892648 202893599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 202893100 204103114 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ALS2CR8,BMPR2,FAM117B,FZD7,ICA1L,NBEAL1,NOP58,SNORD11,SNORD11B,SNORD70,SUMO1,WDR12 chr2 20289501 20309000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 202896713 202928804 Gain and loss Pancreatic cancer SNP array 17952125 FZD7 chr2 2028992 2029092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYT1L chr2 202906407 202906696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202915348 202915448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 202919234 202919342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202929780 202929864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202930131 202930385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 202949294 203140719 Gain or loss Breast cancer - 20668451 NOP58,SUMO1 chr2 202949294 203140719 Gain or loss Cancer - 20668451 NOP58,SUMO1 chr2 202949294 203140719 Gain or loss Lung cancer - 20668451 NOP58,SUMO1 chr2 202949294 203140719 Gain or loss Ovarian cancer - 20668451 NOP58,SUMO1 chr2 202949294 203140719 Gain or loss Pancreas cancer - 20668451 NOP58,SUMO1 chr2 202949294 203140719 Gain or loss Prostate cancer - 20668451 NOP58,SUMO1 chr2 202949916 203140719 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOP58,SUMO1 chr2 202949916 203140719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOP58,SUMO1 chr2 202949916 203140719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOP58,SUMO1 chr2 202956021 202993888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 202966053 202966153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 20296735 20296982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20297194 20297297 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20297194 20297298 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 203003671 203021160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 203004020 203020446 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 203023668 203023957 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20303134 20304288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203036495 203036603 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 203047041 203047125 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 203047392 203047646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 203109709 203147263 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOP58,SNORD70 chr2 20311934 20413944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDC1 chr2 20311934 20413944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDC1 chr2 203128318 203128418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 203134465 203134609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOP58 chr2 203187680 203187748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203187753 203187820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203188505 203188573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203190184 203190251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203190596 203190662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203192879 203192944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203208454 203342725 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BMPR2 chr2 203208454 203342725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMPR2 chr2 203208454 203342725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMPR2 chr2 20322187 20346501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 203228756 203228858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203300000 204900000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 ABI2,ALS2CR8,BMPR2,CD28,CTLA4,CYP20A1,FAM117B,ICA1L,ICOS,NBEAL1,RAPH1,WDR12 chr2 203300000 204900000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABI2,ALS2CR8,BMPR2,CD28,CTLA4,CYP20A1,FAM117B,ICA1L,ICOS,NBEAL1,RAPH1,WDR12 chr2 203304941 203305009 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203305014 203305081 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203305766 203305834 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203307445 203307512 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203307857 203307923 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203310140 203310205 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203310205 203310266 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203325210 203456681 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203346017 203346119 Gain and loss Pancreatic cancer SNP array 17952125 BMPR2 chr2 203346129 203444953 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BMPR2 chr2 203346129 203444953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BMPR2 chr2 203346129 203444953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BMPR2 chr2 203409816 203443945 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BMPR2 chr2 203453575 203485194 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 203453575 203485194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203453575 203485194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 203466207 203561872 Gain and loss Pancreatic cancer SNP array 17952125 FAM117B chr2 203485223 203559305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM117B chr2 203485223 203559305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM117B chr2 203485362 203557996 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM117B chr2 203496285 203496317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 203500000 205600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABI2,ALS2CR8,CD28,CTLA4,CYP20A1,FAM117B,ICA1L,ICOS,NBEAL1,PARD3B,RAPH1,WDR12 chr2 203500000 209100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ABI2,ADAM23,ALS2CR8,C2orf80,CCNYL1,CD28,CPO,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,CTLA4,CYP20A1,DYTN,EEF1B2,FAM117B,FASTKD2,FZD5,GCSHP3,GPR1,ICA1L,ICOS,INO80D,KLF7,LOC100507443,LOC200726,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,NBEAL1,NDUFS1,NRP2,PARD3B,PLEKHM3,RAPH1,SNORA41,SNORD51,WDR12,ZDBF2 chr2 203507276 203507376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM117B chr2 203530572 203531719 Gain and loss Pancreatic cancer SNP array 17952125 FAM117B chr2 203570836 203602455 Gain and loss Pancreatic cancer SNP array 17952125 FAM117B chr2 203602443 203674721 Gain and loss Pancreatic cancer SNP array 17952125 FAM117B,ICA1L chr2 203607020 203612172 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM117B chr2 203608045 203610291 Loss Normal Birdsuite, version 1.5.2 22087296 FAM117B chr2 203614730 203658287 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM117B,ICA1L chr2 203614730 203658287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM117B,ICA1L chr2 203622455 203622555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM117B chr2 20362320 20362420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 203625253 203625386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM117B chr2 203698338 203698338 Copy number Prostate cancer Illumina GA II sequencer 21307934 ICA1L chr2 20370083 20472091 Gain and loss Pancreatic cancer SNP array 17952125 PUM2,SDC1 chr2 203705194 203776441 Gain and loss Pancreatic cancer SNP array 17952125 ICA1L,WDR12 chr2 203708718 203790962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR8,ICA1L,WDR12 chr2 203708718 203790962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR8,ICA1L,WDR12 chr2 203708789 203790856 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALS2CR8,ICA1L,WDR12 chr2 203724278 203727556 Loss Normal 244K array 17666407 ICA1L chr2 203728902 203728997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ICA1L chr2 203740267 203740267 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr2 203742514 203742646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 203742514 203742647 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 203763748 203764291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR12 chr2 203763748 203764291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR12 chr2 203811419 203878808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR8 chr2 203811419 203878808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CR8 chr2 203811658 203870205 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALS2CR8 chr2 203825979 203916607 Gain and loss Pancreatic cancer SNP array 17952125 ALS2CR8,NBEAL1 chr2 203889907 203899986 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NBEAL1 chr2 203890300 203899719 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NBEAL1 chr2 203901248 204005134 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NBEAL1 chr2 203901248 204005134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEAL1 chr2 203901248 204005134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEAL1 chr2 203928919 203995840 Gain and loss Pancreatic cancer SNP array 17952125 NBEAL1 chr2 203937376 203937446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEAL1 chr2 203988897 205302180 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABI2,CD28,CTLA4,CYP20A1,ICOS,NBEAL1,RAPH1 chr2 204005720 204047715 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NBEAL1 chr2 204006783 204108303 Gain or loss Breast cancer - 20668451 CYP20A1,NBEAL1 chr2 204006783 204108303 Gain or loss Cancer - 20668451 CYP20A1,NBEAL1 chr2 204006783 204108303 Gain or loss Lung cancer - 20668451 CYP20A1,NBEAL1 chr2 204006783 204108303 Gain or loss Ovarian cancer - 20668451 CYP20A1,NBEAL1 chr2 204006783 204108303 Gain or loss Pancreas cancer - 20668451 CYP20A1,NBEAL1 chr2 204006783 204108303 Gain or loss Prostate cancer - 20668451 CYP20A1,NBEAL1 chr2 204006786 204108303 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CYP20A1,NBEAL1 chr2 204006786 204108303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP20A1,NBEAL1 chr2 204006786 204108303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP20A1,NBEAL1 chr2 204018662 204117837 Gain and loss Pancreatic cancer SNP array 17952125 CYP20A1,NBEAL1 chr2 20402255 20402335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SDC1 chr2 204054637 204054707 Gain and loss Pancreatic cancer SNP array 17952125 NBEAL1 chr2 204124047 204225564 Gain and loss Pancreatic cancer SNP array 17952125 ABI2,CYP20A1 chr2 204208237 204208953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI2 chr2 204208417 204241245 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABI2 chr2 204241752 204276620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABI2 chr2 20425771 20425837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204279443 204310801 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ABI2,RAPH1 chr2 204279443 204310801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABI2,RAPH1 chr2 204288005 204332901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABI2,RAPH1 chr2 204322793 204354615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAPH1 chr2 204324806 204326238 Gain and loss Pancreatic cancer SNP array 17952125 RAPH1 chr2 204337670 204337765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAPH1 chr2 204345599 204346470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAPH1 chr2 20435001 20510000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PUM2 chr2 204355005 204355111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAPH1 chr2 204396704 204428062 Gain and loss Pancreatic cancer SNP array 17952125 RAPH1 chr2 204399239 204399339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAPH1 chr2 204415662 205302180 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD28,CTLA4,ICOS chr2 204440754 204446928 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 204440754 204446928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 204440754 204446928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 204462866 204463731 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 204472266 204472372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 204509716 204534541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 204509716 204534541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 204509716 204534541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 204533830 206266883 Deletion Cancer Affymetrix 250K Sty array 20164920 CD28,CTLA4,ICOS,PARD3B chr2 204558017 204564189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 204600 204600 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 204626977 204651802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20464862 20464960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PUM2 chr2 204661403 204662134 Loss Normal 244K array 17666407 NOT_FOUND chr2 204685770 204685870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204696912 204697012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204702265 204702365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204737803 204737888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTLA4 chr2 204750028 204750099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204795501 204797000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 204829843 205404221 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr2 204833455 204833530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204863033 204863117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204866020 204866102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204867470 204868488 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 204893501 204893565 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 204895246 204895346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204900000 215300000 Copy number Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 ACADL,ADAM23,C2orf80,CCNYL1,CPO,CPS1,CPS1-IT1,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,DYTN,EEF1B2,ERBB4,FASTKD2,FZD5,GCSHP3,GPR1,IDH1,IDH1-AS1,IKZF2,INO80D,KANSL1L,KLF7,LANCL1,LOC100130451,LOC100507443,LOC200726,MAP2,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,MIR4776-1,MIR4776-2,MIR548F2,MYL1,NDUFS1,NRP2,PARD3B,PIKFYVE,PLEKHM3,PTH2R,RPE,SNORA41,SNORD51,SPAG16,UNC80,VWC2L,ZDBF2 chr2 204930555 204930705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204932014 204932114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 204986756 204986796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 20510001 20512000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PUM2 chr2 205101102 206054630 LOH Normal High-resolution SNP genotyping 21211785 PARD3B chr2 20510315 20512682 Gain or loss Breast cancer - 20668451 PUM2 chr2 20510315 20512682 Gain or loss Cancer - 20668451 PUM2 chr2 20510315 20512682 Gain or loss Lung cancer - 20668451 PUM2 chr2 20510315 20512682 Gain or loss Ovarian cancer - 20668451 PUM2 chr2 20510315 20512682 Gain or loss Pancreas cancer - 20668451 PUM2 chr2 20510315 20512682 Gain or loss Prostate cancer - 20668451 PUM2 chr2 20510316 20512681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PUM2 chr2 20510316 20512681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PUM2 chr2 205118761 206193131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARD3B chr2 205118761 206193131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3B chr2 205118968 206188782 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PARD3B chr2 20512001 20575000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PUM2 chr2 205213593 205816999 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PARD3B chr2 205225698 205227497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 20523026 20523113 Gain and loss Pancreatic cancer SNP array 17952125 PUM2 chr2 205236229 206306043 Gain and loss Pancreatic cancer SNP array 17952125 PARD3B chr2 20525306 20525406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PUM2 chr2 20530147 20530453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 205323279 205323364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 205365338 205666680 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PARD3B chr2 205366261 205391991 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 205414362 205420298 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 PARD3B chr2 20544086 20544197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 205491180 205491281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 205493696 205493796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 205521117 205538798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PARD3B chr2 205589497 206500657 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PARD3B chr2 205600000 209100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM23,C2orf80,CCNYL1,CPO,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,DYTN,EEF1B2,FASTKD2,FZD5,GCSHP3,GPR1,INO80D,KLF7,LOC100507443,LOC200726,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,NDUFS1,NRP2,PARD3B,PLEKHM3,SNORA41,SNORD51,ZDBF2 chr2 205600000 209100000 Gain Barrett's adenocarcinoma FISH 18663352 ADAM23,C2orf80,CCNYL1,CPO,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,DYTN,EEF1B2,FASTKD2,FZD5,GCSHP3,GPR1,INO80D,KLF7,LOC100507443,LOC200726,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,NDUFS1,NRP2,PARD3B,PLEKHM3,SNORA41,SNORD51,ZDBF2 chr2 205600000 215100000 Gain Non-small cell lung cancer dChip 21829676 ACADL,ADAM23,C2orf80,CCNYL1,CPO,CPS1,CPS1-IT1,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,DYTN,EEF1B2,ERBB4,FASTKD2,FZD5,GCSHP3,GPR1,IDH1,IDH1-AS1,IKZF2,INO80D,KANSL1L,KLF7,LANCL1,LOC100130451,LOC100507443,LOC200726,MAP2,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,MIR4776-1,MIR4776-2,MIR548F2,MYL1,NDUFS1,NRP2,PARD3B,PIKFYVE,PLEKHM3,PTH2R,RPE,SNORA41,SNORD51,SPAG16,UNC80,ZDBF2 chr2 205619775 205619871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 205651754 205651925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 205651958 205652068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 20568463 20570828 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20575001 20728000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RHOB chr2 205759761 206050327 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 PARD3B chr2 205832148 205861536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PARD3B chr2 205836186 205838188 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PARD3B chr2 205839562 206117927 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PARD3B chr2 205927200 205927270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3B chr2 20595046 20595165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 205967301 206549200 Copy number Normal ReadDepth: A Parallel R Package 21305028 NRP2,PARD3B chr2 206018109 206018154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 20602233 20602342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20602234 20602342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 206044461 206044531 Gain and loss Pancreatic cancer SNP array 17952125 PARD3B chr2 206051686 206051786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 206189928 206190002 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PARD3B chr2 206195372 206195472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 206207609 206207687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 206255469 206371099 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PARD3B chr2 206255469 206371099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARD3B chr2 206255469 206371099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3B chr2 206276380 206276473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 206351029 206351417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3B chr2 206371774 206404799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PARD3B chr2 206372068 206488360 Gain and loss Pancreatic cancer SNP array 17952125 PARD3B chr2 206389146 206389246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 206439428 206439750 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PARD3B chr2 206439428 206439750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PARD3B chr2 206439445 206439767 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PARD3B chr2 206455924 206456024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 206468046 206469939 Gain and loss Pancreatic cancer SNP array 17952125 PARD3B chr2 206473599 206473927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARD3B chr2 206476804 206476904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 206479775 206479859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARD3B chr2 20649360 20649424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 206508321 206546272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 206535691 206535791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 206557959 206558039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRP2 chr2 206566690 206659151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRP2 chr2 206566690 206659151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRP2 chr2 206579747 207028592 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 EEF1B2,GCSHP3,INO80D,NDUFS1,NRP2,SNORA41,SNORD51 chr2 206590860 206591188 Gain and loss Pancreatic cancer SNP array 17952125 NRP2 chr2 206590860 206591189 Gain and loss Pancreatic cancer SNP array 17952125 NRP2 chr2 206598562 206598666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRP2 chr2 206601482 206634480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRP2 chr2 206602469 206602569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRP2 chr2 206604287 206604387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRP2 chr2 206683083 206683173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 206694072 206776412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 20669521 20669895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206696080 206732432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206696080 206732432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206715823 206715925 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 206730662 206731064 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 206732563 206735897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206732563 206735897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206734847 206734925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206735197 206735328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206748073 206791016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206748073 206791016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206757690 206757790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 206794284 206794603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 20681045 20714345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 20681045 20714345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206813054 206849653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 206833050 206833195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206847768 206887393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INO80D chr2 206847768 206887393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80D chr2 206849840 206853158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 206852111 206852180 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 206852458 206852589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 206865334 206908141 Gain and loss Pancreatic cancer SNP array 17952125 INO80D chr2 206879761 206879761 Copy number Prostate cancer Illumina GA II sequencer 21307934 INO80D chr2 206908424 206941477 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INO80D chr2 206911545 206911794 Gain and loss Pancreatic cancer SNP array 17952125 INO80D chr2 206911545 206911858 Gain and loss Pancreatic cancer SNP array 17952125 INO80D chr2 206928708 206929088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INO80D chr2 206950311 206950456 Gain and loss Pancreatic cancer SNP array 17952125 INO80D chr2 206983053 206983878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 206996483 207004654 Gain and loss Pancreatic cancer SNP array 17952125 NDUFS1 chr2 207016613 207191124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEF1B2,GPR1,NDUFS1,SNORA41,SNORD51,ZDBF2 chr2 207016613 207191124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEF1B2,GPR1,NDUFS1,SNORA41,SNORD51,ZDBF2 chr2 207028592 207725565 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ADAM23,DYTN,FASTKD2,GPR1,LOC200726,MDH1B,MIR3130-1,MIR3130-2,ZDBF2 chr2 207045969 207046349 Gain and loss Pancreatic cancer SNP array 17952125 GPR1 chr2 207096485 207514676 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM23,LOC200726,ZDBF2 chr2 207100314 207101139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 207110709 207110753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207134045 207308385 Gain and loss Pancreatic cancer SNP array 17952125 ADAM23,ZDBF2 chr2 207169528 207514676 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM23,LOC200726,ZDBF2 chr2 207197452 207197530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207259483 207260335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 207259483 207260335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 207274034 207274154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 20728001 20740000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 20729905 20734731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 20729905 20734731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 207310732 207338295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM23 chr2 207310732 207338295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM23 chr2 207329772 207329872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM23 chr2 207338556 207365478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM23 chr2 207338556 207365478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM23 chr2 207376744 207377593 Gain and loss Pancreatic cancer SNP array 17952125 ADAM23 chr2 207387440 207387540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM23 chr2 207391297 207391415 Gain and loss Pancreatic cancer SNP array 17952125 ADAM23 chr2 20739212 20772485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 207414585 207416360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADAM23 chr2 20741586 20753237 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 207419538 207419638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM23 chr2 207428059 207455524 Gain and loss Pancreatic cancer SNP array 17952125 ADAM23 chr2 207442334 207479642 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ADAM23 chr2 207455838 207482738 Gain and loss Pancreatic cancer SNP array 17952125 ADAM23 chr2 20747284 20886355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf43,GDF7,HS1BP3 chr2 20747284 20886355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf43,GDF7,HS1BP3 chr2 207481481 207481581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM23 chr2 207492060 207492132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207512523 207542443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYTN,LOC200726 chr2 207512523 207542443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYTN,LOC200726 chr2 207531189 207531245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYTN chr2 207541155 207586476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DYTN chr2 207565258 207596781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DYTN chr2 207570073 207570155 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYTN chr2 207584984 213908936 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 ACADL,C2orf80,CCNYL1,CPO,CPS1,CPS1-IT1,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,ERBB4,FASTKD2,FZD5,IDH1,IDH1-AS1,IKZF2,KANSL1L,KLF7,LANCL1,LOC100507443,MAP2,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PLEKHM3,PTH2R,RPE,UNC80 chr2 207606122 208174515 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPO,FASTKD2,KLF7,MDH1B,MIR2355,MIR3130-1,MIR3130-2 chr2 207606122 209727678 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf80,CCNYL1,CPO,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,FASTKD2,FZD5,IDH1,IDH1-AS1,KLF7,LOC100507443,MDH1B,METTL21A,MIR2355,MIR3130-1,MIR3130-2,MIR4775,PIKFYVE,PLEKHM3,PTH2R chr2 207611789 207611887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MDH1B chr2 207629830 207659666 Gain and loss Pancreatic cancer SNP array 17952125 FASTKD2,MDH1B,MIR3130-1,MIR3130-2 chr2 207653774 207738859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FASTKD2 chr2 207653774 207738859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FASTKD2 chr2 20767559 23031558 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APOB,C2orf43,GDF7,HS1BP3,LOC645949 chr2 207695865 207696052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 207713119 207713219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207715099 207715199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207723600 207723683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207725565 209229004 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 C2orf80,CCNYL1,CPO,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,FZD5,IDH1,IDH1-AS1,KLF7,LOC100507443,METTL21A,MIR2355,MIR4775,PIKFYVE,PLEKHM3 chr2 207747868 208037134 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CPO,KLF7,MIR2355 chr2 207770584 207857077 Gain and loss Pancreatic cancer SNP array 17952125 CPO chr2 207777045 207822160 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPO chr2 207815051 207835859 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CPO chr2 207836432 207836518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207842244 207842393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 207852552 207855336 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 207863115 207863215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 20788052 20792878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 207882994 207883085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 207901394 207901499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207902582 207902685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 207976714 207976872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF7 chr2 207976800 207976902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF7 chr2 207976887 207977023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF7 chr2 207976902 207977065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLF7 chr2 208017754 208066987 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KLF7 chr2 208048050 208079768 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 208049617 208049717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208057893 208068695 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 208057893 208068695 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 208058751 208067699 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 208059097 208067649 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 208059397 208067617 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 208060582 208076274 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 208060582 208076274 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 208061364 208066083 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 208063423 208067581 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 208063423 208067581 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 20806447 20944455 Gain and loss Pancreatic cancer SNP array 17952125 C2orf43,GDF7,HS1BP3 chr2 208102917 208171806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208102917 208171806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208102930 208171815 Amplification Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 NOT_FOUND chr2 208102930 208171815 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 208102930 208171815 Gain or loss Cancer - 20668451 NOT_FOUND chr2 208102930 208171815 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 208102930 208171815 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 208102930 208171815 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 208102930 208171815 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 208109443 208109543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208122026 208122160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208137 254068 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SH3YL1 chr2 208149 254810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH3YL1 chr2 208149 254810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3YL1 chr2 208151 254745 Gain and loss Pancreatic cancer SNP array 17952125 SH3YL1 chr2 208152574 208152658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208162354 208189883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 208173563 208173651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208180663 208185055 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 208181401 208186900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 208182728 208185029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 208185086 208198276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208185086 208198276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208197501 208199500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 208220192 208289067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208223569 208223669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208253502 208253608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208254559 208255002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208260929 208261028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208268407 208314773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 208275470 208275764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 208284001 208285500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 208284509 208327434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208284509 208327434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208286330 208286403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208302347 208315213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208316687 208596258 Copy number loss Normal High-resolution SNP genotyping 21211785 CCNYL1,CREB1,METTL21A chr2 208320724 208322443 Loss Normal 244K array 17666407 NOT_FOUND chr2 208322449 208322519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208335554 208342388 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 208335554 208342388 Gain or loss Cancer - 20668451 NOT_FOUND chr2 208335554 208342388 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 208335554 208342388 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 208335554 208342388 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 208335554 208342388 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 208335577 208342388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208335577 208342388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208340001 208341500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 208370587 208370687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208370763 208370869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208370764 208370869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208371721 208372263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208374360 211887963 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACADL,C2orf80,CCNYL1,CPS1,CPS1-IT1,CREB1,CRYGA,CRYGB,CRYGC,CRYGD,FZD5,IDH1,IDH1-AS1,KANSL1L,LANCL1,LOC100507443,MAP2,METTL21A,MIR4775,MYL1,PIKFYVE,PLEKHM3,PTH2R,RPE,UNC80 chr2 208378190 208378286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208378190 208378287 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208394259 208395738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CREB1 chr2 208401288 208598467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNYL1,CREB1,METTL21A chr2 208401288 208598467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNYL1,CREB1,METTL21A chr2 208401770 208444695 Gain and loss Pancreatic cancer SNP array 17952125 CREB1 chr2 208444459 208478301 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CREB1,METTL21A chr2 208454241 208454555 Gain and loss Pancreatic cancer SNP array 17952125 CREB1 chr2 208456223 208459624 Gain and loss Pancreatic cancer SNP array 17952125 CREB1 chr2 208472195 208472414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 20847383 21373712 LOH Normal High-resolution SNP genotyping 21211785 APOB,C2orf43,GDF7,HS1BP3 chr2 20847383 21431497 LOH Normal High-resolution SNP genotyping 21211785 APOB,C2orf43,GDF7,HS1BP3 chr2 20847383 21431859 LOH Normal High-resolution SNP genotyping 21211785 APOB,C2orf43,GDF7,HS1BP3 chr2 208473838 208474361 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 METTL21A chr2 208475828 208508885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 METTL21A chr2 208483690 208483770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 METTL21A chr2 208489321 208498259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 METTL21A chr2 208511526 208512999 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208524001 208524101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208551246 208551370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208592607 208592710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNYL1 chr2 208618582 208618896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCNYL1 chr2 208627130 208627226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208628258 208628358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FZD5 chr2 208647035 208647130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208666855 208667214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208667353 208667695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 208694577 208697558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208694577 208697558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208701105 208702799 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PLEKHM3 chr2 208701108 208702872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208701108 208702872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208709877 208709971 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 208715542 208719122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208715542 208719122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208720036 208752436 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLEKHM3 chr2 208724177 208724277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHM3 chr2 208733709 208736542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208733709 208736542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208734034 208734124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHM3 chr2 208738327 208763018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208742960 208763173 Loss Autism Exome sequencing and CGH 22495309 PLEKHM3 chr2 208744391 208744487 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 20875169 21431497 LOH Normal High-resolution SNP genotyping 21211785 APOB,C2orf43 chr2 20875169 21431859 LOH Normal High-resolution SNP genotyping 21211785 APOB,C2orf43 chr2 208759831 208849748 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 PLEKHM3 chr2 208764296 208764391 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 208769403 208769722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLEKHM3 chr2 208781956 208782056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHM3 chr2 208783330 208804810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLEKHM3 chr2 208785054 208801584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLEKHM3 chr2 208787390 208792025 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLEKHM3 chr2 208809199 208828051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208809199 208828051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208811838 208814719 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 208818369 208820133 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 208825624 208827927 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 208827202 208827302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHM3 chr2 208832803 208836386 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 208839236 208931720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208839236 208931720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHM3 chr2 208850970 208853894 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 208855579 208880279 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHM3 chr2 208858923 208858976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLEKHM3 chr2 208878254 208878785 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PLEKHM3 chr2 208898605 208899177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208919029 208919157 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr2 208926460 208945312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 208933601 208935346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 208950639 208950708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208956497 209048981 Gain and loss Pancreatic cancer SNP array 17952125 C2orf80,CRYGA,CRYGB,CRYGC,CRYGD,LOC100507443 chr2 208966155 208966255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 208979801 209067469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf80,CRYGA,CRYGB,CRYGC,CRYGD,LOC100507443 chr2 208979801 209067469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf80,CRYGA,CRYGB,CRYGC,CRYGD,LOC100507443 chr2 209000000 215300000 Copy number Non-small cell lung cancer Western blot analysis and PCR 18676828 ACADL,C2orf80,CPS1,CPS1-IT1,CRYGA,CRYGB,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,LOC100507443,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80,VWC2L chr2 209000000 215300000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ACADL,C2orf80,CPS1,CPS1-IT1,CRYGA,CRYGB,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,LOC100507443,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80,VWC2L chr2 209000000 215300000 Deletion Ovarian cancer Affymetrix 50K XbaI SNP mapping arrays, Affymetrix U133plus2.0 arrays 19193619 ACADL,C2orf80,CPS1,CPS1-IT1,CRYGA,CRYGB,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,LOC100507443,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80,VWC2L chr2 209000000 221500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AAMP,ABCA12,ABCB6,ACADL,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,C2orf80,CCDC108,CDK5R2,CHPF,CNPPD1,CPS1,CPS1-IT1,CRYBA2,CRYGA,CRYGB,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,ERBB4,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,INHA,KANSL1L,LANCL1,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100507443,MAP2,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MIR4776-1,MIR4776-2,MIR548F2,MREG,MYL1,NHEJ1,OBSL1,PECR,PIKFYVE,PKI55,PLCD4,PNKD,PRKAG3,PTH2R,PTPRN,RESP18,RNF25,RPE,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPAG16,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,UNC80,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 209000000 243199373 Gain Myofibroblastic sarcoma CGH 19369631 AAMP,ABCA12,ABCB6,ACADL,ACSL3,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANKZF1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BOK,BOK-AS1,C2orf54,C2orf57,C2orf62,C2orf72,C2orf80,C2orf82,C2orf83,CAB39,CAPN10,CCDC108,CCDC140,CCL20,CDK5R2,CHPF,CHRND,CHRNG,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CPS1,CPS1-IT1,CRYBA2,CRYGA,CRYGB,CTDSP1,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP27A1,D2HGDH,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM124B,FAM134A,FARP2,FARSB,FBXO36,FEV,FLJ43879,FN1,GAL3ST2,GBX2,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INPP5D,IQCA1,IRS1,ITM2C,KANSL1L,KCNE4,KCNJ13,KIF1A,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100286922,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LOC728323,LRRFIP1,MAP2,MARCH4,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2467,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOGAT1,MREG,MRPL44,MSL3P1,MTERFD2,MYEOV2,MYL1,NCL,NDUFA10,NEU2,NEU4,NGEF,NHEJ1,NMUR1,NPPC,NYAP2,OBSL1,OR6B2,OR6B3,OTOS,PASK,PAX3,PDCD1,PDE6D,PECR,PER2,PID1,PIKFYVE,PKI55,PLCD4,PNKD,PP14571,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RBM44,RESP18,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK25,STK36,THAP4,TIGD1,TM4SF20,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TRAF3IP1,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR69,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 209000000 243199373 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 AAMP,ABCA12,ABCB6,ACADL,ACSL3,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANKZF1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BOK,BOK-AS1,C2orf54,C2orf57,C2orf62,C2orf72,C2orf80,C2orf82,C2orf83,CAB39,CAPN10,CCDC108,CCDC140,CCL20,CDK5R2,CHPF,CHRND,CHRNG,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CPS1,CPS1-IT1,CRYBA2,CRYGA,CRYGB,CTDSP1,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CXXC11,CYP27A1,D2HGDH,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM124B,FAM134A,FARP2,FARSB,FBXO36,FEV,FLJ43879,FN1,GAL3ST2,GBX2,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,IDH1,IDH1-AS1,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INPP5D,IQCA1,IRS1,ITM2C,KANSL1L,KCNE4,KCNJ13,KIF1A,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100286922,LOC100507443,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LOC728323,LRRFIP1,MAP2,MARCH4,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2467,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOGAT1,MREG,MRPL44,MSL3P1,MTERFD2,MYEOV2,MYL1,NCL,NDUFA10,NEU2,NEU4,NGEF,NHEJ1,NMUR1,NPPC,NYAP2,OBSL1,OR6B2,OR6B3,OTOS,PASK,PAX3,PDCD1,PDE6D,PECR,PER2,PID1,PIKFYVE,PKI55,PLCD4,PNKD,PP14571,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTH2R,PTMA,PTPRN,RAB17,RAMP1,RBM44,RESP18,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK25,STK36,THAP4,TIGD1,TM4SF20,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TRAF3IP1,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR69,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 209010808 209034398 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2orf80,CRYGA,CRYGB,LOC100507443 chr2 209033393 209033493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf80 chr2 209050936 209051509 Gain and loss Pancreatic cancer SNP array 17952125 C2orf80 chr2 209061981 209413063 Gain or loss Breast cancer - 20668451 IDH1,IDH1-AS1,PIKFYVE,PTH2R chr2 209061981 209413063 Gain or loss Cancer - 20668451 IDH1,IDH1-AS1,PIKFYVE,PTH2R chr2 209061981 209413063 Gain or loss Lung cancer - 20668451 IDH1,IDH1-AS1,PIKFYVE,PTH2R chr2 209061981 209413063 Gain or loss Ovarian cancer - 20668451 IDH1,IDH1-AS1,PIKFYVE,PTH2R chr2 209061981 209413063 Gain or loss Pancreas cancer - 20668451 IDH1,IDH1-AS1,PIKFYVE,PTH2R chr2 209061981 209413063 Gain or loss Prostate cancer - 20668451 IDH1,IDH1-AS1,PIKFYVE,PTH2R chr2 20907111 20907195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf43 chr2 209079826 209079926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 209097062 209184730 Gain and loss Pancreatic cancer SNP array 17952125 IDH1,IDH1-AS1,PIKFYVE chr2 209100000 215100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADL,CPS1,CPS1-IT1,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80 chr2 209100000 215100000 Copy number Schizophrenia from references 18923514 ACADL,CPS1,CPS1-IT1,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80 chr2 209100000 215100000 Deletion Schizophrenia high-density microarrays 22241247 ACADL,CPS1,CPS1-IT1,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80 chr2 209100000 215100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACADL,CPS1,CPS1-IT1,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80 chr2 209100000 215100000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ACADL,CPS1,CPS1-IT1,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80 chr2 209100000 215100000 Loss Urothelial cell carcinoma FISH 18451213 ACADL,CPS1,CPS1-IT1,ERBB4,IDH1,IDH1-AS1,IKZF2,KANSL1L,LANCL1,LOC100130451,MAP2,MIR4776-1,MIR4776-2,MIR548F2,MYL1,PIKFYVE,PTH2R,RPE,SPAG16,UNC80 chr2 209130752 209146877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIKFYVE chr2 20915398 20923782 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C2orf43 chr2 209159963 209160289 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIKFYVE chr2 209229004 210601250 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 MAP2,PTH2R chr2 209345043 209345143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTH2R chr2 209419973 209420073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 209422013 209422091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 209493516 209493633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 209508681 209508781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 209513906 209750829 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 209610775 209610894 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 209610777 209610894 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 209619258 242650580 Gain Developmental delay affymetrix genechip 500K/SNP 6.14 array 21147756 AAMP,ABCA12,ABCB6,ACADL,ACSL3,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANKZF1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BOK,BOK-AS1,C2orf54,C2orf57,C2orf62,C2orf72,C2orf82,C2orf83,CAB39,CAPN10,CCDC108,CCDC140,CCL20,CDK5R2,CHPF,CHRND,CHRNG,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CPS1,CPS1-IT1,CRYBA2,CTDSP1,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP27A1,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM124B,FAM134A,FARP2,FARSB,FBXO36,FEV,FLJ43879,FN1,GBX2,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INPP5D,IQCA1,IRS1,ITM2C,KANSL1L,KCNE4,KCNJ13,KIF1A,KLHL30,LANCL1,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MAP2,MARCH4,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2467,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOGAT1,MREG,MRPL44,MSL3P1,MTERFD2,MYEOV2,MYL1,NCL,NDUFA10,NEU2,NGEF,NHEJ1,NMUR1,NPPC,NYAP2,OBSL1,OR6B2,OR6B3,OTOS,PASK,PAX3,PDE6D,PECR,PER2,PID1,PKI55,PLCD4,PNKD,PP14571,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTMA,PTPRN,RAB17,RAMP1,RBM44,RESP18,RHBDD1,RNF25,RNPEPL1,RPE,RPL37A,RQCD1,RUFY4,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK25,STK36,THAP4,TIGD1,TM4SF20,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TRAF3IP1,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC80,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR69,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 209649401 209658800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 209715187 209743035 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 209737703 209737803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 209740824 209783582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 209751185 209776624 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 209752781 209780696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 209757886 209790225 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 20976650 20976736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C2orf43 chr2 209791518 209791618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 209800369 210100956 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 209808586 209808666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 209837368 209871571 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 209869394 209869665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 209891674 209891774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 209997016 210307087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 209997016 210307087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210114288 210424340 Gain and loss Pancreatic cancer SNP array 17952125 MAP2 chr2 210260531 210260754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 210260744 210260828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 210267187 210299200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP2 chr2 210294882 210294990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210294897 210294989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210344962 210369516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210344962 210369516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210402198 210556260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210402198 210556260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210412135 210412195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP2 chr2 210412158 210412250 Gain and loss Pancreatic cancer SNP array 17952125 MAP2 chr2 210462303 210485049 Gain and loss Pancreatic cancer SNP array 17952125 MAP2 chr2 210485656 210530512 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP2 chr2 210499034 210499810 Gain and loss Pancreatic cancer SNP array 17952125 MAP2 chr2 210519459 210673521 Gain and loss Pancreatic cancer SNP array 17952125 MAP2,UNC80 chr2 210525514 210559548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP2 chr2 210575593 210594512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210575593 210594512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2 chr2 210591782 210616587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP2 chr2 210593692 210744296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP2,UNC80 chr2 210593692 210744296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP2,UNC80 chr2 210601250 210911367 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 KANSL1L,RPE,UNC80 chr2 21060343 21060443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 210692873 210711798 Gain and loss Pancreatic cancer SNP array 17952125 UNC80 chr2 210710941 210861557 Gain and loss Pancreatic cancer SNP array 17952125 UNC80 chr2 210760963 210798405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UNC80 chr2 210760963 210798405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC80 chr2 21077806 21120450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 21077806 21120450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 210838932 210839043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UNC80 chr2 210840980 210841283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UNC80 chr2 210859007 210859107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNC80 chr2 210863113 210888140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANSL1L,RPE,UNC80 chr2 210863113 210888140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1L,RPE,UNC80 chr2 210872340 210872440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPE chr2 210878224 210915666 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1L,RPE chr2 210883669 210883762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPE chr2 21091028 21091093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 210911367 211035238 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 KANSL1L chr2 210922922 210924206 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1L chr2 210956193 210956301 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1L chr2 210956193 210956302 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1L chr2 210980383 211005403 Gain and loss Pancreatic cancer SNP array 17952125 KANSL1L chr2 210991164 210991264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KANSL1L chr2 211000789 211000869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KANSL1L chr2 211004223 211049676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANSL1L chr2 211004223 211049676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL1L chr2 211035238 213106802 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ACADL,CPS1,CPS1-IT1,ERBB4,KANSL1L,LANCL1,MYL1 chr2 211069048 211088615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACADL chr2 211069103 211076855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACADL chr2 211078202 211078294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACADL chr2 211106985 211152350 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 211121484 211166937 Gain and loss Pancreatic cancer SNP array 17952125 MYL1 chr2 211129583 211252074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYL1 chr2 211129583 211252074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYL1 chr2 211156904 211887963 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPS1,CPS1-IT1,LANCL1,MYL1 chr22 1 11800000 Loss Breast cancer aCGH 21264507 NOT_FOUND chr2 211190520 211190620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 211206275 211206375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 211246303 211895734 LOH Normal High-resolution SNP genotyping 21211785 CPS1,CPS1-IT1,LANCL1 chr2 211246844 211369335 Gain and loss Pancreatic cancer SNP array 17952125 CPS1,LANCL1 chr2 21125910 21125994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 211276055 211276109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 211276240 211276315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 211293278 211321135 Gain and loss Pancreatic cancer SNP array 17952125 LANCL1 chr2 211338224 211945208 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CPS1,CPS1-IT1,LANCL1 chr2 211358859 211368373 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 CPS1 chr2 21135953 21178597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 1 14439500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 211463984 211498730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPS1,CPS1-IT1 chr2 211492940 211623004 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 CPS1 chr2 211787057 211788752 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr2 211798516 212095884 Deletion Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr22 11800000 16300000 Copy number Normal - 21701786 POTEH chr22 11800000 16300000 Gain Schizophrenia Affymetrix 6.0 array 21399695 POTEH chr22 11800000 20500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,POTEH,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 11800000 20500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,POTEH,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 11800000 24300000 Copy number Digeorge syndrome Array CGH 18033723 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Copy number Digeorge syndrome MLPA 22283845 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Copy number Emanuel syndrome BAC array CGH platform 21549014 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Copy number Schizophrenia karyotype analysis 17504246 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion 22q11 deletion syndrome - 17034021 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion 22q11 deletion syndrome Array-CGH 22511897 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion 22q11 deletion syndrome real-time quantitative PCR 17028864 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion 22q11 deletion syndrome References 16829213 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion absent pulmonary valve syndrome Karyotyping 16795129 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Autism References 19218893 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Autism References 22067053 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Biliary cancer References 22067053 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Digeorge syndrome FISH(References) 16617304 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Digeorge syndrome References 18787571 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Emanuel syndrome References 18184694 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion language delay References 22067053 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Non-syndromic sensorineural hearing loss fluorescence in situ hybridization and Quantitative Multiplex PCR 17135275 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Non-syndromic sensorineural hearing loss PCR and sequencing 18184694 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Obsessive-compulsive disorder References 22067053 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion periventricular nodular heterotopia Affymetrix 250k Nsp I array 20648244 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Psychosis References 22067053 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion renal disease Array CGH, FISH 17924346 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Schizophrenia - 16969581 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Schizophrenia - 19415332 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Schizophrenia - 20587603 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Schizophrenia Genome-Wide Approaches 20433910 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion Shprintzen syndrome References 19443537 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Deletion velo-cardio-facial syndrome fluorescence in situ hybridization and Quantitative Multiplex PCR 17135275 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Duplication Autism Multiplex ligation-dependent probe amplification 18925931 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Loss Non-small cell lung cancer dChip 21829676 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion 22q11.2 microdeletion syndrome fMRI 21547621 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion bone mass and metabolism - 20516202 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion choanal atresia - 18209138 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Congenital heart defect FISH 21308838 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Digeorge syndrome QIAamp DNA maxi kit 16512914 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Digeorge syndrome References 20954168 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion extracardiac malformations - 17086578 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion fetal heart defects - 21308838 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Nuchal translucency FISH 21837766 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion parathyroid gland dysfunction FISH 16793949 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion prenatal diagnosis Multiplex ligation probe amplification 20453657 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Right aortic arch in the fetus karyotype analysis 17066500 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletions 22q11.2 microdeletion syndrome fMRI 21547621 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletions 22q11 deletion syndrome mass spectrometry 17653112 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Shprintzen syndrome FISH test 17117043 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Tetralogy of fallot - 17405110 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Velocardiofacial syndrome - 20111667 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Velocardiofacial syndrome FISH 20140301 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion Velocardiofacial syndrome QIAamp DNA maxi kit 16512914 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Microdeletion velopharyngeal insufficiency FISH 19620585 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Translocation Chronic myelomonocytic leukemia References 16760666 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Translocation Non-syndromic sensorineural hearing loss References 16760666 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 24300000 Translocation Non-syndromic sensorineural hearing loss References 16829213 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 11800000 49691432 Copy number Cancer ICA method 16751803 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Duplication Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Duplication Splenic marginal zone lymphoma BAC CGH array 21957467 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Gain Esophageal squamous carcinoma CGH 21637470 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Gain Metanephric adenoma Oligo aCGH 20802469 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Gain or loss Endometrial cancer CGH 22040021 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Loss Astrocytoma CGH 17387387 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Loss Breast cancer aCGH 21264507 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Loss Glioblastoma multiforme CGH 17387387 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 11800000 49691432 Loss Seminomas CGH, Comparative expressed sequence hybridisation 18059402 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr2 211874624 212207104 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 211875451 211875551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 211896596 211896696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 211908913 211909003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 211948686 213111597 Copy number Breast cancer ddPCR 17661082 ERBB4 chr2 211948686 213111597 Copy number Normal - 21369977 ERBB4 chr2 211948686 213111597 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 ERBB4 chr2 211948686 213111597 Gain or loss Breast cancer - 20668451 ERBB4 chr2 211948686 213111597 Gain or loss Cancer - 20668451 ERBB4 chr2 211948686 213111597 Gain or loss Lung cancer - 20668451 ERBB4 chr2 211948686 213111597 Gain or loss Ovarian cancer - 20668451 ERBB4 chr2 211948686 213111597 Gain or loss Pancreas cancer - 20668451 ERBB4 chr2 211948686 213111597 Gain or loss Prostate cancer - 20668451 ERBB4 chr2 211948691 213111810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 211948691 213111810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 21199639 21199739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 21200037 21200069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 21200294 21219649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 21203230 21203330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 212055264 212055349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 212068644 212124472 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 212072321 213228760 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212079502 212540679 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ERBB4 chr2 212108623 212108739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 212138172 212138272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 21214158 23086198 Copy number loss Normal High-resolution SNP genotyping 21211785 APOB,LOC645949 chr2 21214158 23086198 LOH Normal High-resolution SNP genotyping 21211785 APOB,LOC645949 chr2 212183809 212183895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 212225884 212225973 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 212225884 212226000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 212226777 212226877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 212240441 213403352 Copy number Schizophrenia References 18990708 ERBB4,MIR548F2 chr2 212257401 212261500 Deletion Glioma mate-paired sequence 20126413 ERBB4 chr2 212259491 212259787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERBB4 chr2 212265084 212265184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212323663 212323763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212338217 212338297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212348491 212348559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 212349527 212349597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 212350619 212646410 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ERBB4 chr2 212350831 212350898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 212350908 212350976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 212350978 212351050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 212351083 212351149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 212352743 212352811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 212352813 212352880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 212399950 213704121 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ERBB4,MIR548F2 chr2 212402010 212408313 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ERBB4 chr2 212408289 212408361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERBB4 chr2 212423799 212423899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212436036 212436101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERBB4 chr2 212465752 212465820 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212466504 212466767 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212466788 212466858 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212468092 212468159 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212468169 212468237 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212468239 212468311 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212468344 212468410 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212468410 212468473 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212470004 212470072 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212470074 212470141 Gain and loss Pancreatic cancer SNP array 17952125 ERBB4 chr2 212479484 212483401 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 ERBB4 chr2 212484506 212484606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212565101 212571681 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ERBB4 chr2 212608078 212608163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212660042 212822890 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ERBB4 chr2 212698064 212698164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212708195 212708340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212708340 212708578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 21272181 21275396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 212730389 212784533 Gain Normal Birdsuite, version 1.5.2 22087296 ERBB4 chr2 2127422 5011578 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADI1,ALLC,COLEC11,LOC100505964,LOC100506054,LOC727982,LOC730811,MYT1L,RNASEH1,RPS7,TRAPPC12,TSSC1 chr2 212745861 212745961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212748551 212748651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212778696 212811966 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ERBB4 chr2 212778908 212778991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 21277962 21278168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 212781980 212889560 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ERBB4 chr2 212796922 212797022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212804930 212826014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ERBB4 chr2 212833604 212833704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212845661 212845761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212845807 212845907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212889568 212979704 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ERBB4 chr2 212892208 212900256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERBB4 chr2 212893777 212900303 Copy number loss Normal High-resolution SNP genotyping 21211785 ERBB4 chr2 212893777 212900478 Copy number loss Normal High-resolution SNP genotyping 21211785 ERBB4 chr2 212934026 212934126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212944043 212998780 Loss Normal Birdsuite, version 1.5.2 22087296 ERBB4 chr2 212989340 212989440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 212999232 212999329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 213006821 213012709 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ERBB4 chr2 213010174 213017122 Loss Normal 244K array 17666407 ERBB4 chr2 213029788 213074472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ERBB4 chr2 213076501 213081100 Deletion Glioma mate-paired sequence 20126413 ERBB4 chr2 213106802 213129128 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 ERBB4 chr2 213129128 242651100 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AAMP,ABCA12,ABCB6,ACSL3,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANKZF1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG4B,ATG9A,ATIC,B3GNT7,BARD1,BCS1L,BOK,BOK-AS1,C2orf54,C2orf57,C2orf62,C2orf72,C2orf82,C2orf83,CAB39,CAPN10,CCDC108,CCDC140,CCL20,CDK5R2,CHPF,CHRND,CHRNG,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CRYBA2,CTDSP1,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP27A1,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,EPHA4,ERBB4,ESPNL,FAM124B,FAM134A,FARP2,FARSB,FBXO36,FEV,FLJ43879,FN1,GBX2,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,IGFBP2,IGFBP5,IHH,IKZF2,ILKAP,ING5,INHA,INPP5D,IQCA1,IRS1,ITM2C,KCNE4,KCNJ13,KIF1A,KLHL30,LINC00471,LINC00607,LINC00608,LOC100129175,LOC100130451,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MARCH4,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2467,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4776-1,MIR4776-2,MIR4777,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR5702,MIR5703,MLPH,MOGAT1,MREG,MRPL44,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NGEF,NHEJ1,NMUR1,NPPC,NYAP2,OBSL1,OR6B2,OR6B3,OTOS,PASK,PAX3,PDE6D,PECR,PER2,PID1,PKI55,PLCD4,PNKD,PP14571,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTMA,PTPRN,RAB17,RAMP1,RBM44,RESP18,RHBDD1,RNF25,RNPEPL1,RPL37A,RQCD1,RUFY4,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPAG16,SPATA3,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK25,STK36,THAP4,TIGD1,TM4SF20,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TRAF3IP1,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP37,USP40,VIL1,VWC2L,VWC2L-IT1,WDFY1,WDR69,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 213161301 213161401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr22 1 32000000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf31,C22orf39,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LIF,LIMK2,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr2 213238576 213238709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERBB4 chr2 213262513 213262613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 21327901 21530300 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 213282917 213283222 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERBB4 chr2 213317497 213704121 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ERBB4 chr2 213336539 213336644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERBB4 chr2 213350922 213351013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERBB4 chr2 21337060 21342588 Duplication Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 NOT_FOUND chr2 213466867 213466960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 134684 14797037 Loss Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr2 213499738 213531503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 213522881 215064185 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 IKZF2,LOC100130451,MIR4776-1,MIR4776-2,SPAG16 chr2 213562034 213562109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 213572655 213724578 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 NOT_FOUND chr2 213572674 213724578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 213572674 213724578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 213647429 213647529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 213681444 213682180 Loss Normal 244K array 17666407 NOT_FOUND chr2 213696850 213841839 Gain and loss Pancreatic cancer SNP array 17952125 MIR4776-1,MIR4776-2 chr2 213727643 214543582 LOH Normal High-resolution SNP genotyping 21211785 IKZF2,LOC100130451,MIR4776-1,MIR4776-2,SPAG16 chr2 21380979 21381166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 21381102 21381161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 21381199 21381302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 213814761 213814856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 213827892 213862816 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 213830993 215244481 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 IKZF2,LOC100130451,SPAG16 chr2 213830993 216198327 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCA12,ATIC,BARD1,IKZF2,LOC100130451,SPAG16,VWC2L,VWC2L-IT1 chr2 213849521 213857174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 213857361 214983284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IKZF2,LOC100130451,SPAG16 chr2 213857361 214983284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IKZF2,LOC100130451,SPAG16 chr2 21390786 21390884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 213926461 213926561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IKZF2 chr2 213973156 214003555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IKZF2 chr2 213974622 215100545 Gain and loss Pancreatic cancer SNP array 17952125 IKZF2,LOC100130451,SPAG16 chr2 213989577 214010564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IKZF2 chr2 213992067 214022922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IKZF2 chr2 214016146 214016236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IKZF2 chr2 214074002 214074091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 214136847 214247312 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC100130451,SPAG16 chr2 214157160 214157787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG16 chr2 214191263 214191352 Gain and loss Pancreatic cancer SNP array 17952125 SPAG16 chr2 214240801 214241228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG16 chr2 21426284 21426588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 214277231 214277331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG16 chr2 214302798 214302897 Gain and loss Pancreatic cancer SNP array 17952125 SPAG16 chr2 214302823 214302897 Gain and loss Pancreatic cancer SNP array 17952125 SPAG16 chr2 214345270 214345347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG16 chr22 14406502 14834842 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr22 14430822 15432057 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 14432528 14532285 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 14432528 14766665 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 14432528 14774605 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 14432528 14870820 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 14432528 14886444 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 14432528 15281024 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 14433758 15475051 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr22 14435171 14488388 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 14435171 14586199 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 14435171 14824865 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 14435171 14857042 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 14435171 14857504 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 14435171 15640968 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr22 14435171 15668220 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr22 14435207 14586199 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 14439501 14465500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 14441016 15613460 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr22 14441016 15665049 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr22 14441016 15945909 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr22 14441016 21389135 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,LZTR1,MED15,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,P2RX6,PEX26,PI4KA,PI4KAP1,POM121L4P,POTEH,PRODH,RANBP1,RIMBP3,RTN4R,SCARF2,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8,ZNF74 chr22 14441016 26638884 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GAB4,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,MYO18B,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 14441016 31939760 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf31,C22orf39,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LIF,LIMK2,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14441016 33406963 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,BPIFC,C22orf13,C22orf15,C22orf24,C22orf25,C22orf28,C22orf29,C22orf31,C22orf39,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXO7,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LIF,LIMK2,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC339666,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,PRR14L,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,SYN3,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14441016 35169353 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,BPIFC,C22orf13,C22orf15,C22orf24,C22orf25,C22orf28,C22orf29,C22orf31,C22orf39,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXO7,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LARGE,LIF,LIMK2,LOC100128531,LOC100506195,LOC150185,LOC150197,LOC284865,LOC284889,LOC339666,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR4764,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,PRR14L,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,SYN3,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14441016 49691432 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1170K arrays 21546498 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14456052 14456172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14461738 14573360 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 NOT_FOUND chr2 214462531 214462608 Gain and loss Pancreatic cancer SNP array 17952125 SPAG16 chr22 14464249 14464826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14465501 14476000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 14476001 14712750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 14480517 14504973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14482342 14525461 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 214483450 214483756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG16 chr22 14491957 14623462 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr22 14502720 14503768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14504247 14878881 Loss or gain Normal 244K array 17666407 NOT_FOUND chr22 14509865 14549165 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 14509865 14549165 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 14509865 14563401 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 14509865 14563401 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 14509865 15652016 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 14509865 15652016 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 14525461 14824877 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 14526517 14563401 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 14537306 14537938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 214553162 214553583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG16 chr2 214554809 214555154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG16 chr2 214580901 214586300 Deletion Glioma mate-paired sequence 20126413 SPAG16 chr2 214582949 214584458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG16 chr22 14586199 14805814 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 214596040 215487564 LOH Normal High-resolution SNP genotyping 21211785 SPAG16,VWC2L,VWC2L-IT1 chr22 14597288 15285519 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 14606253 14831355 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr2 21461016 22980963 LOH Normal High-resolution SNP genotyping 21211785 LOC645949 chr22 14616193 14661188 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr22 14635352 14636482 Gain Normal BAC array 16365383 NOT_FOUND chr22 14635919 14636227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14636331 14667937 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr22 14636332 14667937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14636332 14667937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 21464107 22980963 LOH Normal High-resolution SNP genotyping 21211785 LOC645949 chr22 14656398 14656504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14661201 15063416 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 214668665 214701553 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPAG16 chr22 14700000 17900000 Deletion Epilepsy ref 20923578 ANKRD62P1-PARP4P3,CCT8L2,CECR1,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,GAB4,HSFY1P1,IL17RA,OR11H1,POTEH,TPTEP1,XKR3 chr22 14700000 21888000 Amplification Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,HSFY1P1,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MED15,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,POTEH,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8,ZNF74 chr22 14700000 51304566 Amplification Colorectal cancer GISTIC software 19359472 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14700000 51304566 Loss Basal cell lymphoma CGH 17170743 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14700000 51304566 Loss Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14700000 51304566 Loss Gastrointestinal stromal cancer CGH 17535989 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14700000 51304566 Loss Gastrointestinal stromal cancer CGH 20470368 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14700000 51304566 Loss Paraganglioma CGH 17535989 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14700000 51304566 Loss Pulmonary chondroma CGH 17535989 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr2 214705911 214706011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG16 chr22 14708439 15252728 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 14712751 14723000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 14713633 14722783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14723001 14840750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 14725359 14815194 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr22 14725912 14735362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14725912 14735362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14731393 15234331 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 14731393 15234331 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 14738888 14754273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 14742385 14742561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14744867 14746204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14769485 14769602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14779957 14816527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14784698 14785874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14793609 14795951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 214803990 214829997 Gain Autism qPCR 20531469 SPAG16 chr22 14804125 14807059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14804125 14807059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 214808080 214829997 Gain Autism qPCR 20531469 SPAG16 chr22 14823378 14824325 Gain Normal BAC array 16365383 NOT_FOUND chr22 14824877 14870976 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 14828824 14829805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14840751 14846000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 14846001 15151750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 214851603 214882001 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 SPAG16 chr2 214853604 214854421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG16 chr22 14858033 20363383 Deletion Breast cancer FISH 17142309 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,POTEH,PRODH,RANBP1,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 14865399 14867973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 14870976 15029985 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 14871713 15256940 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 14871713 15454209 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 14871713 15454209 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 14884345 21962513 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,HSFY1P1,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MED15,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,POTEH,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,XKR3,ZDHHC8,ZNF74 chr22 14887631 15256940 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 214914285 214959221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPAG16 chr2 214931492 214931576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG16 chr22 14933454 15606123 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr22 14940089 14940174 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 14944242 14944323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 214946673 214946765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG16 chr22 1 49491400 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr2 214950382 215162041 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-304K arrays 21546498 SPAG16 chr22 1 49691432 Deletion Medulloblastoma SNP arrays 21979893 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 1 49691432 Deletion Normal - 20616218 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 1 49691432 Deletion sporadic solitary meningiomas Array-CGH 19589153 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 1 49691432 Duplication Normal Affymetrix 250K SNP array 21412953 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 1 49691432 Indels Normal Affymetrix 6.0 array 21223598 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 1 49691432 Loss Esophageal squamous carcinoma CGH 21637470 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 1 49691432 Loss Glioblastoma multiforme aCGH 21080181 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 1 49691432 Loss Glioblastoma multiforme conventional CGH 21080181 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 1 49691432 Microdeletion Velocardiofacial syndrome - 20111667 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 14969740 14985230 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 14970274 14970355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 214971011 214971682 Gain and loss Pancreatic cancer SNP array 17952125 SPAG16 chr2 214987163 214987579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPAG16 chr2 214987163 214987579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG16 chr22 14987210 14987292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15009448 15026562 Gain Normal BAC array 16365383 NOT_FOUND chr22 15014898 15031926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15014898 15031926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15029985 15037301 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 2150485 2150585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYT1L chr22 15060767 15067245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 215100000 221300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AAMP,ABCA12,ABCB6,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IGFBP2,IGFBP5,IHH,INHA,LINC00607,LINC00608,LOC100129175,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MREG,NHEJ1,OBSL1,PECR,PKI55,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPAG16,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 215100000 221300000 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 AAMP,ABCA12,ABCB6,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IGFBP2,IGFBP5,IHH,INHA,LINC00607,LINC00608,LOC100129175,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MREG,NHEJ1,OBSL1,PECR,PKI55,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPAG16,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 215104424 215266050 Gain and loss Pancreatic cancer SNP array 17952125 SPAG16 chr2 215120137 215120187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPAG16 chr22 15151751 15242500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 21518647 21563666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 215201403 215201642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG16 chr2 215201637 215201821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG16 chr22 15227851 15236873 Gain Normal TaqMan assays 20972442 NOT_FOUND chr22 15236255 16625906 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 OR11H1,POTEH chr22 15236255 49264838 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 15244886 15668220 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 215245886 215245986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAG16 chr22 15248420 15251613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15249001 15253500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 15250226 15293499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 15266056 15266143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15268900 15668220 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 215270704 215271033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAG16 chr22 15280888 15281317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15284668 15286756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15289690 15337613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15289690 15337613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 215291705 215292021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VWC2L chr22 15298820 15411072 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 215300000 221500000 Amplification Alveolar rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 AAMP,ABCA12,ABCB6,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IGFBP2,IGFBP5,IHH,INHA,LINC00607,LINC00608,LOC100129175,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MREG,NHEJ1,OBSL1,PECR,PKI55,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 215300000 221500000 Copy number Effusion lymphoma Real-time QPCR 18079361 AAMP,ABCA12,ABCB6,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IGFBP2,IGFBP5,IHH,INHA,LINC00607,LINC00608,LOC100129175,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MREG,NHEJ1,OBSL1,PECR,PKI55,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 215300000 221500000 Deletion Colorectal cancer PCR 16912164 AAMP,ABCA12,ABCB6,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IGFBP2,IGFBP5,IHH,INHA,LINC00607,LINC00608,LOC100129175,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MREG,NHEJ1,OBSL1,PECR,PKI55,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 215300000 221500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AAMP,ABCA12,ABCB6,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IGFBP2,IGFBP5,IHH,INHA,LINC00607,LINC00608,LOC100129175,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MREG,NHEJ1,OBSL1,PECR,PKI55,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 215300000 221500000 Gain and amplification Multiple myeloma Array CGH 16616336 AAMP,ABCA12,ABCB6,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IGFBP2,IGFBP5,IHH,INHA,LINC00607,LINC00608,LOC100129175,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MREG,NHEJ1,OBSL1,PECR,PKI55,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 215300000 221500000 Gain Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 AAMP,ABCA12,ABCB6,ANKZF1,ARPC2,ASIC4,ATG9A,ATIC,BARD1,BCS1L,C2orf62,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DIRC3,DNAJB2,DNPEP,FAM134A,FEV,FN1,GLB1L,GMPPA,GPBAR1,IGFBP2,IGFBP5,IHH,INHA,LINC00607,LINC00608,LOC100129175,MARCH4,MIR153-1,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MREG,NHEJ1,OBSL1,PECR,PKI55,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RPL37A,RQCD1,RUFY4,SLC11A1,SLC23A3,SLC4A3,SMARCAL1,SPEG,STK11IP,STK16,STK36,TMBIM1,TMEM169,TMEM198,TNP1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,VWC2L,VWC2L-IT1,WNT10A,WNT6,XRCC5,ZFAND2B,ZNF142 chr2 215301522 215382673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWC2L,VWC2L-IT1 chr2 215301522 215382673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWC2L,VWC2L-IT1 chr22 15335223 22636719 Substitutions and indels small cell lung cancer array-CGH 20016488 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,HSFY1P1,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,XKR3,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 15342429 15343766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15347893 15349212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15347893 15349212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15364194 15370365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15366181 15366999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 215372413 215372513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWC2L chr22 15387001 15392500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 215387969 215388294 Gain and loss Pancreatic cancer SNP array 17952125 VWC2L,VWC2L-IT1 chr22 15392501 15418000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 215393451 215393546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWC2L,VWC2L-IT1 chr22 15406620 15407815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 15418001 15429500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 215418783 215499872 Gain and loss Pancreatic cancer SNP array 17952125 VWC2L chr2 215419916 215420050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWC2L chr22 15430576 19786161 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,OR11H1,PEX26,POTEH,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TPTEP1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 15432917 15435527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 215435101 215441000 Deletion Glioma mate-paired sequence 20126413 VWC2L chr2 215436030 215439627 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 VWC2L chr2 215436030 215439627 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 VWC2L chr2 215437007 215439076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VWC2L chr2 215437065 215439115 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 VWC2L chr22 15438133 31661481 Triplication Myelodysplastic syndrome - 21251322 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf31,C22orf39,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DUSP18,EMID1,EWSR1,FAM211B,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LIF,LIMK2,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 15440333 15443594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15446321 15447994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15450527 15450932 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15451641 15453700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15451641 15453700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15455973 15456378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15455973 15456378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15457331 15467349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 215457871 215458052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 15459607 15459694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15462801 15509719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15462801 15509719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15468052 15468778 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 215480633 215480703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 15487191 15488407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 215494165 215494215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 15497786 15509719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15497786 15509719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15504252 15506384 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 215504522 215711396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BARD1 chr2 215504522 215711396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BARD1 chr22 15506585 15507471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15514782 15520524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15529029 15532822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15534451 15540236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 215534529 215579629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 215537177 215537311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15539032 29797058 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,ARVCF,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf31,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CCDC117,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,EMID1,EWSR1,FAM211B,FBXW4P1,FLJ41941,GAB4,GAS2L1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,KIAA1671,KLHL22,KREMEN1,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3618,MIR3653,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MRPL40,MYO18B,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RASL10A,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBX1,TFIP11,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 15550993 15565367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15557501 15559000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 15563701 15570473 Gain Normal 244K array 17666407 NOT_FOUND chr2 215595905 215596005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BARD1 chr22 15600021 15605236 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 215604640 216156372 LOH Normal High-resolution SNP genotyping 21211785 ABCA12,BARD1 chr22 15609877 15958396 Copy number Normal Quantitative Real-Time PCR 17666543 NOT_FOUND chr2 215621773 215828657 Gain and loss Pancreatic cancer SNP array 17952125 ABCA12,BARD1 chr22 15638926 15677136 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15641026 15653178 Loss Autism qPCR, Affy 6.0 20531469 NOT_FOUND chr2 2156417 2164521 Gain Normal 244K array 17666407 MYT1L chr22 15644322 15682584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15644322 15682584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15688441 15690106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15698412 15698556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15701636 15720389 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 15705001 15707000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 15713037 15713646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 15716694 15717052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15718509 15721608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 2157335 2158470 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYT1L chr22 15737108 15737311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15737442 15737792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 215747738 215747838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 15758335 15758436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15765114 15765586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15769723 15777617 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15772052 18686317 Gain Non-syndromic sensorineural hearing loss array CGH 18496225 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,CCT8L2,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,FLJ41941,GAB4,HSFY1P1,IL17RA,MICAL3,MIR3198-1,MIR648,OR11H1,PEX26,POTEH,SLC25A18,TPTEP1,TUBA8,USP18,XKR3 chr22 15775169 15775892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15782330 15783063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15786842 15787334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15794465 15794716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15817001 15831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 15818177 15863443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15822826 15869112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15822826 15869112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15823000 32389000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf24,C22orf25,C22orf29,C22orf31,C22orf39,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LIF,LIMK2,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,PRR14L,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr2 215849482 216942053 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCA12,ATIC,FN1,LINC00607,MREG,PECR chr2 215863785 215863850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA12 chr2 215875734 215875823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA12 chr2 215884936 215922724 Gain or loss Breast cancer - 20668451 ABCA12 chr2 215884936 215922724 Gain or loss Cancer - 20668451 ABCA12 chr2 215884936 215922724 Gain or loss Lung cancer - 20668451 ABCA12 chr2 215884936 215922724 Gain or loss Ovarian cancer - 20668451 ABCA12 chr2 215884936 215922724 Gain or loss Pancreas cancer - 20668451 ABCA12 chr2 215884936 215922724 Gain or loss Prostate cancer - 20668451 ABCA12 chr2 215885076 215922731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA12 chr2 215885076 215922731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA12 chr22 15898744 15960362 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr22 15902000 18179000 Gain Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,CCT8L2,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,GAB4,HSFY1P1,IL17RA,OR11H1,POTEH,SLC25A18,TPTEP1,XKR3 chr22 15914174 15915513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 215922616 215922778 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ABCA12 chr2 215925731 215925831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA12 chr2 215933426 216009036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCA12 chr2 215933426 216009036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCA12 chr22 15940412 15965941 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15945849 15971387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15945849 15971387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15954505 15954686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15961025 15984379 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr22 15962234 16119107 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr22 15974835 15976571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 15977189 15982257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15977189 15982257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 215988302 215988402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCA12 chr22 15992955 16020731 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 215992995 215993084 Gain and loss Pancreatic cancer SNP array 17952125 ABCA12 chr22 15998411 16026177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 15998411 16026177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216002315 216039983 Gain and loss Pancreatic cancer SNP array 17952125 ABCA12 chr22 16014837 16015209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16020283 16020655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16034746 16065333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16040192 16082879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16040192 16082879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216047215 216047278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 216050687 216126302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 216050687 216126302 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 NOT_FOUND chr22 16053826 16054198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16060000 29000000 Loss Breast cancer aCGH 21509527 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,ARVCF,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GAB4,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HPS4,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3618,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MRPL40,MYO18B,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SRRD,SUSD2,TBX1,TFIP11,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16074618 16075045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216111137 216120858 Loss Normal 244K array 17666407 NOT_FOUND chr2 216116776 216276027 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATIC,FN1 chr2 216128942 216129032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 16132289 16154930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 16136317 16158485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 16140082 16168546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 16142775 33053140 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,BPIFC,C22orf13,C22orf15,C22orf24,C22orf25,C22orf28,C22orf29,C22orf31,C22orf39,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXO7,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LIF,LIMK2,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC339666,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,PRR14L,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,SYN3,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 16150351 16159107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 16150384 16160170 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 16208325 16208621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16213771 16214067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216222538 216222583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 16224295 16247492 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 16228206 23382798 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GGTLC2,GNB1L,GP1BB,GSC2,HIC2,HIRA,HSFY1P1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,XKR3,YDJC,YPEL1,ZDHHC8,ZNF280A,ZNF280B,ZNF74 chr22 16228206 49421490 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 16233834 23142856 Loss Prostate cancer Array CGH 18632612 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GGTLC2,GNB1L,GP1BB,GSC2,HIC2,HIRA,HSFY1P1,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRAME,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,XKR3,YDJC,YPEL1,ZDHHC8,ZNF280A,ZNF280B,ZNF74 chr2 216239101 218769100 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIRC3,FN1,IGFBP2,IGFBP5,LINC00607,MARCH4,MREG,PECR,PKI55,RPL37A,SMARCAL1,TMEM169,TNP1,TNS1,XRCC5 chr2 2162497 2171677 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MYT1L chr2 2162497 2181119 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MYT1L chr2 216250289 216250413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FN1 chr22 16259597 16597551 Loss Bladder cancer array-CGH 21909424 OR11H1,POTEH chr22 16264231 16264561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POTEH chr22 16277744 16278875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POTEH chr22 16277744 16278875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POTEH chr22 16300000 20500000 Amplification Normal - 22101487 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Copy number Normal - 21701786 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Deletion Digeorge syndrome array-CGH 16199537 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Deletion Normal Refference 21823210 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Deletion Schizophrenia high-density microarrays 22241247 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Duplication Autism high-density microarrays 22241247 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Gain Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 20500000 Microduplications 22q11.21 microdeletion syndrome array CGH 19193630 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16300000 21800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,HSFY1P1,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MED15,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,POM121L4P,POM121L8P,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8,ZNF74 chr22 16300000 24300000 Copy number Cat eye syndrome BAC array CGH platform 21549014 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Copy number Digeorge syndrome BAC array CGH platform 21549014 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome - 22051516 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome Cytogenetic analysis 18799940 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome FISH 18483005 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome FISH 19565140 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome FISH 20396437 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome from references 18923514 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome High resoresolution karyotyping,fluorescence in situ hybridization (FISH),SPSS(version 12.0),PEPI(version 4.0) 21390462 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome In situ hybridization 22116936 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion 22q11.2 microdeletion syndrome References 21573985 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Autism ref 20970697 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Congenital heart defect - 21257016 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Congenital heart defect FISH 22185286 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion delayed speech development FISH 21274400 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Developmental delay Array-based comparative genomic hybridization 18414209 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Digeorge syndrome - 20186050 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Digeorge syndrome - 20877625 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion DiGeorge-Velo cardiofacial - 19284877 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion DiGeorge-Velo cardiofacial Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion,duplication Disorders of sex development - 22290220 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Epilepsy ref 20970697 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Heart disease Affymetrix 6.0 hybridization 20551144 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Hughes' syndrome 100K Affymetrix GeneChip 16595601 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Mental retardation Array-based comparative genomic hybridization 18414209 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Okamoto syndrome FISH 19046188 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion or duplication Normal high-density microarrays 22241247 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Schizophrenia FISH 20877625 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Schizophrenia ref 20970697 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Schizophrenia References 20553308 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Schizophrenia References 21956041 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion velo-cardio-facial conotruncal-face syndrome - 20186050 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Velocardiofacial syndrome - 17556857 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion velo-cardio-facial syndrome ABI PRISM 5' nuclease assay 16511839 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion velo-cardio-facial syndrome FISH/CGH 21763005 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Velocardiofacial syndrome Qualitative magnetic resonance imaging (MRI) 20206275 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Deletion Velocardiofacial syndrome ref 20970697 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Duplication 22q11.2 duplication syndrome from references 18923514 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Duplication Autism ref 20970697 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Duplication Autism TaqMan based real-time PCR,Array-CGH 22095694 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Duplication or deletion Mental retardation References 19951919 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Gain Honadal dysgenesis oligo V6.2 21048976 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome - 22395003 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome FISH 18053182 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome FISH 18324686 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome FISH 18691436 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion 22q11.2 microdeletion syndrome magnetic resonance imaging 20074913 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion cardiac malformation FISH 20573211 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion cardiac malformation HumanCytoSNP-12 BeadChip 18172682 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Congenital heart defect FISH 20802965 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Congenital heart defect FISH 21134246 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Digeorge syndrome aCGH 22470819 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion DiGeorge syndrome FISH 19040613 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Digeorge syndrome HumanCytoSNP-12 BeadChip 18172682 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion DiGeorge-Velo cardiofacial Array CGH 18179902 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Neuroendocrine carcinoma aCGH 22470819 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Non-syndromic sensorineural hearing loss FISH 20069674 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Schizophrenia - 18043741 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Schizophrenia - 21822266 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Shprintzen syndrome FISH test 17117043 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Smith-Magenis syndrome FISH 18301319 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletions or microduplications sporadic birth defects aCGH 19047251 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion synaptic plasticity - 21368174 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Tetralogy of fallot - 19144126 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Velocardiofacial syndrome - 20111667 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion velo-cardio-facial syndrome FISH 18636631 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microdeletion Velocardiofacial syndrome Fluorescent In Situ Hybridization (FISH) 18788013 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microduplication Autism FISH 19046189 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microduplication DiGeorge-Velo cardiofacial References 19047251 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microduplication diverse phenotype - 16760730 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microduplication Hypernasal speech Array-CGH 21968682 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microduplication Mental retardation Array CGH 17339581 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microduplication Schizophrenia References 19855392 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 24300000 Microduplication s Mental retardation array-CGH 20152051 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT2,GSTT2B,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 16300000 35900000 Loss Breast cancer Array CGH 16608533 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,BPIFC,C22orf13,C22orf15,C22orf24,C22orf25,C22orf28,C22orf29,C22orf31,C22orf39,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXO7,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,ISX,KIAA1656,KIAA1671,KLHL22,KREMEN1,LARGE,LIF,LIMK2,LOC100128531,LOC100506195,LOC150185,LOC150197,LOC284865,LOC284889,LOC339666,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MCM5,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3909,MIR3928,MIR4761,MIR4764,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,PRR14L,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,SYN3,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOM1,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 16300000 39300000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ADORA2A,ADRBK2,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf28,C22orf29,C22orf31,C22orf39,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CACNG2,CARD10,CBX6,CBY1,CCDC116,CCDC117,CCDC157,CCT8L2,CDC42EP1,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSF2RB,CSNK1E,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAL4,DRG1,DUSP18,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,EWSR1,FAM211B,FAM227A,FBXO7,FBXW4P1,FLJ41941,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA1656,KIAA1671,KLHL22,KREMEN1,LARGE,LGALS1,LGALS2,LIF,LIMK2,LOC100128531,LOC100506195,LOC100506241,LOC150185,LOC150197,LOC284865,LOC284889,LOC339666,LOC388849,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCM5,MED15,MFNG,MIAT,MICAL3,MICALL1,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3909,MIR3928,MIR4534,MIR4761,MIR4764,MIR548J,MIR648,MIR650,MIR658,MIR659,MMP11,MN1,MORC2,MORC2-AS1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NCF4,NEFH,NF2,NIPSNAP1,NOL12,NPTXR,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PDXP,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,PLA2G6,POLR2F,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PVALB,RAB36,RAC2,RANBP1,RASD2,RASL10A,RBFOX2,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SH3BP1,SLC16A8,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SOX10,SPECC1L,SRRD,SSTR3,SUN2,SUSD2,SYN3,TBC1D10A,TBX1,TCN2,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TSSK2,TST,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 16300000 47000000 Gain Metanephric adenoma Oligo aCGH 20802469 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 16300000 47000000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 16300000 49691432 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 16300000 49691432 Gain Breast cancer Array CGH 16608533 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr2 216310796 216310828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 16331181 16408399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16336135 16413845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16336135 16413845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216340015 216340115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 216342094 216361484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 216377706 216377949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16377708 16378061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216379332 216417021 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr2 216387180 216387269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 16389909 19792353 Deletion Schizophrenia PennCNV software 19197363 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,OR11H1,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TPTEP1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 16407855 16449756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR11H1 chr22 16409873 16454674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR11H1 chr22 16417737 16448201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 216422580 216422643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16423150 16453647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OR11H1 chr22 16423150 16453647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OR11H1 chr22 16423916 16465416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR11H1 chr22 16427361 16427718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 16432552 16433263 Loss Normal 244K array 17666407 NOT_FOUND chr22 16436101 16442200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr22 16437001 16440500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 16437688 16440788 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr22 16437751 16440453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 16449479 16486089 Gain and loss Pancreatic cancer SNP array 17952125 OR11H1 chr2 216451801 216451887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16454902 16491588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16454902 16491588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16479517 16479826 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 16486236 16587937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16491621 16591991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16491621 16591991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216494967 216495216 Gain and loss Pancreatic cancer SNP array 17952125 LINC00607 chr2 216515559 216586591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00607 chr2 216515559 216586591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00607 chr22 16520001 16526500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 216539343 218395997 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DIRC3,IGFBP2,IGFBP5,LINC00607,MARCH4,MREG,PECR,PKI55,RPL37A,SMARCAL1,TMEM169,TNP1,XRCC5 chr2 216548232 216548417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00607 chr22 16558724 17937900 Amplification Esophageal cancer affymetrix genechip human mapping 261K Nsp arrays 21851588 ANKRD62P1-PARP4P3,CCT8L2,CECR1,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,GAB4,HSFY1P1,IL17RA,TPTEP1,XKR3 chr2 216566930 216567698 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00607 chr22 16591462 16631812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16596905 16637431 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 16596905 16637431 Gain or loss Cancer - 20668451 NOT_FOUND chr22 16596905 16637431 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 16596905 16637431 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 16596905 16637431 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 16596905 16637431 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 16596908 16637263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16596908 16637263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16600501 16705500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 216611380 216654777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00607 chr2 216611380 216654777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00607 chr2 216633034 216703821 Gain and loss Pancreatic cancer SNP array 17952125 LINC00607 chr22 16634642 16636801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16644972 16689189 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 216646281 216646381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00607 chr22 16646613 19038934 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,CCT8L2,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,DGCR10,DGCR11,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,HSFY1P1,IL17RA,MICAL3,MIR3198-1,MIR648,PEX26,PRODH,SLC25A18,TPTEP1,TUBA8,USP18,XKR3 chr22 16650422 16694766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16650422 16694766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216654887 216675739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00607 chr2 216654887 216675739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00607 chr22 16663897 16664218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 216675717 216779248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00607 chr2 216675717 216779248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00607 chr2 216682376 216779248 Gain or loss Breast cancer - 20668451 LINC00607 chr2 216682376 216779248 Gain or loss Cancer - 20668451 LINC00607 chr2 216682376 216779248 Gain or loss Lung cancer - 20668451 LINC00607 chr2 216682376 216779248 Gain or loss Ovarian cancer - 20668451 LINC00607 chr2 216682376 216779248 Gain or loss Pancreas cancer - 20668451 LINC00607 chr2 216682376 216779248 Gain or loss Prostate cancer - 20668451 LINC00607 chr2 216686248 216720452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00607 chr22 16697104 16769601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16697104 16769601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16698995 16764147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16705501 17106250 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCT8L2,TPTEP1 chr22 16716934 16750814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 216728380 216728478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 216728618 216772027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16732623 16736688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 16771822 16805048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 216772148 216793000 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 216796301 216802900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 216797696 216896509 Gain and loss Pancreatic cancer SNP array 17952125 MREG chr2 216798176 216800743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 216798188 216801357 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 216801028 216801356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 16817924 16818349 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 216830834 216944995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MREG,PECR chr2 216830834 216944995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MREG,PECR chr22 16843634 16843727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216861288 217162631 Gain Normal Birdsuite, version 1.5.2 22087296 MARCH4,MREG,PECR,PKI55,TMEM169,XRCC5 chr2 216866590 216866971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MREG chr22 16867803 16867835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 16871523 16873123 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 16881980 16882966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216893875 216939995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PECR chr2 216907274 216910419 Gain and loss Pancreatic cancer SNP array 17952125 PECR chr2 216912848 216929959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PECR chr2 216924371 216924472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PECR chr22 16926349 17306230 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD62P1-PARP4P3,CCT8L2,TPTEP1,XKR3 chr22 16926349 17306230 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD62P1-PARP4P3,CCT8L2,TPTEP1,XKR3 chr22 16926349 17407078 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD62P1-PARP4P3,CCT8L2,HSFY1P1,TPTEP1,XKR3 chr22 16926349 17407078 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD62P1-PARP4P3,CCT8L2,HSFY1P1,TPTEP1,XKR3 chr22 16926349 17436267 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD62P1-PARP4P3,CCT8L2,HSFY1P1,TPTEP1,XKR3 chr22 16926349 17436267 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD62P1-PARP4P3,CCT8L2,HSFY1P1,TPTEP1,XKR3 chr22 16926349 20666469 Deletion or duo Normal - 21701786 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,PEX26,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr22 16926763 19926763 Copy number Schizophrenia - 20388499 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TPTEP1,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3 chr22 16930000 35160000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,BPIFC,C22orf13,C22orf15,C22orf24,C22orf25,C22orf28,C22orf29,C22orf31,C22orf39,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXO7,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LARGE,LIF,LIMK2,LOC100128531,LOC100506195,LOC150185,LOC150197,LOC284865,LOC284889,LOC339666,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR4764,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,PRR14L,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,SYN3,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 16935240 16948790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16940685 17009275 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr22 16940705 16952207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16940705 16952207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16944232 16944441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216948095 217062256 Gain and loss Pancreatic cancer SNP array 17952125 TMEM169,XRCC5 chr22 16964378 16964654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16968113 16989052 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 16973453 16994498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 16973453 16994498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 216985441 217056021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XRCC5 chr2 216985441 217056021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XRCC5 chr22 17000000 24000000 Segmental duplication Normal BLAST 21269513 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BID,C22orf25,C22orf29,C22orf39,C22orf43,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FBXW4P1,FLJ41941,GAB4,GGT3P,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GUSBP11,HIC2,HIRA,HSFY1P1,IGLL1,IGLL5,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF74 chr22 17000000 28400000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ADORA2A,ADRBK2,AIFM3,ANKRD62P1-PARP4P3,ARVCF,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GAB4,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HPS4,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3618,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MRPL40,MYO18B,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SRRD,SUSD2,TBX1,TFIP11,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TPTEP1,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,XKR3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17006129 17009153 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 17007312 17034714 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17012376 49691432 Loss Wilms tumour 250K Genotyping Arrays 21544195 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 17012757 17040162 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 17012757 17040162 Gain or loss Cancer - 20668451 NOT_FOUND chr22 17012757 17040162 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 17012757 17040162 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 17012757 17040162 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 17012757 17040162 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 17012758 17040164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17012758 17040164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17016230 17385032 Loss or gain Normal 244K array 17666407 ANKRD62P1-PARP4P3,CCT8L2,HSFY1P1,TPTEP1,XKR3 chr2 217018061 217062695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 XRCC5 chr22 17035971 17269339 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ANKRD62P1-PARP4P3,CCT8L2,TPTEP1,XKR3 chr22 17036278 19886068 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TPTEP1,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3 chr2 217039854 217039903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XRCC5 chr2 217041632 217041731 Gain and loss Pancreatic cancer SNP array 17952125 XRCC5 chr2 217041632 217041732 Gain and loss Pancreatic cancer SNP array 17952125 XRCC5 chr22 17042251 17059683 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17052138 18585938 Copy number Schizophrenia - 18511947 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,CCT8L2,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,FLJ41941,GAB4,HSFY1P1,IL17RA,MICAL3,MIR3198-1,MIR648,PEX26,SLC25A18,TPTEP1,XKR3 chr22 17052138 18585938 Copy number Schizophrenia - 20388499 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,CCT8L2,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,FLJ41941,GAB4,HSFY1P1,IL17RA,MICAL3,MIR3198-1,MIR648,PEX26,SLC25A18,TPTEP1,XKR3 chr22 17052873 17386984 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD62P1-PARP4P3,CCT8L2,HSFY1P1,TPTEP1,XKR3 chr2 217071765 217074428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 217071765 217074428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17080000 20200000 Gain Autism Array CGH 18522746 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,LOC150197,LOC284865,LOC388849,MICAL3,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,PEX26,PRODH,RANBP1,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8 chr2 217092564 217092664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17096094 17112494 Gain and loss Pancreatic cancer SNP array 17952125 TPTEP1 chr22 17101540 17117940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPTEP1 chr2 217102702 217173245 Gain and loss Pancreatic cancer SNP array 17952125 MARCH4 chr22 17106251 17226750 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD62P1-PARP4P3,TPTEP1 chr2 217125673 217125773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH4 chr22 17128428 17386984 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD62P1-PARP4P3,HSFY1P1,TPTEP1,XKR3 chr22 17128428 17410722 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD62P1-PARP4P3,HSFY1P1,TPTEP1,XKR3 chr22 17135889 17153289 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD62P1-PARP4P3 chr2 217136563 217728425 LOH Normal High-resolution SNP genotyping 21211785 IGFBP2,IGFBP5,MARCH4,RPL37A,SMARCAL1,TNP1 chr22 17141202 17159474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD62P1-PARP4P3 chr22 17141202 17159474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD62P1-PARP4P3 chr2 217141494 217728425 LOH Normal High-resolution SNP genotyping 21211785 IGFBP2,IGFBP5,MARCH4,RPL37A,SMARCAL1,TNP1 chr2 217142589 217142647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH4 chr2 217142602 217176833 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MARCH4 chr22 17147764 19579638 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1171K arrays 21546498 ANKRD62P1-PARP4P3,ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SLC25A1,SLC25A18,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17158480 17233217 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 NOT_FOUND chr22 17158480 18962782 Loss aortic dissecting aneurysms Array-CGH 22263138 ATP6V1E1,BCL2L13,BID,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,DGCR5,DGCR6,FLJ41941,GAB4,GGT3P,HSFY1P1,IL17RA,MICAL3,MIR3198-1,MIR648,PEX26,PRODH,SLC25A18,TUBA8,USP18,XKR3 chr22 17161534 17386984 Duplication Normal Affymetrix 6.0 microarrays 20967226 HSFY1P1,XKR3 chr22 17161534 17386984 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HSFY1P1,XKR3 chr22 17161534 17414451 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HSFY1P1,XKR3 chr22 17173947 17190110 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 217181606 217181706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH4 chr2 217183316 217183927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH4 chr2 217189073 217193775 Gain and loss Pancreatic cancer SNP array 17952125 MARCH4 chr22 17190110 17256428 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 17200000 19800000 Copy number Cognitive impairment - 21505072 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17200000 19820000 Copy number Cognitive impairment - 21505072 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17201207 17201951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 217206371 217237403 Gain or loss Breast cancer - 20668451 MARCH4 chr2 217206371 217237403 Gain or loss Cancer - 20668451 MARCH4 chr2 217206371 217237403 Gain or loss Lung cancer - 20668451 MARCH4 chr2 217206371 217237403 Gain or loss Ovarian cancer - 20668451 MARCH4 chr2 217206371 217237403 Gain or loss Pancreas cancer - 20668451 MARCH4 chr2 217206371 217237403 Gain or loss Prostate cancer - 20668451 MARCH4 chr2 217206372 217237404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCH4 chr2 217206372 217237404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH4 chr22 17207674 17306230 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 XKR3 chr22 17207674 17366764 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HSFY1P1,XKR3 chr22 17207674 17407078 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HSFY1P1,XKR3 chr22 17207674 17407078 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HSFY1P1,XKR3 chr22 17207674 17436267 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HSFY1P1,XKR3 chr22 17207674 17436267 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HSFY1P1,XKR3 chr22 17209638 17213910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17214324 17219322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17216878 17220709 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17222322 17223993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17224645 17227474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17224645 17227474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17241748 19819918 Loss Autism qPCR 20531469 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr2 217245072 217268517 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 217245072 217268517 Gain or loss Cancer - 20668451 NOT_FOUND chr2 217245072 217268517 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 217245072 217268517 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 217245072 217268517 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 217245072 217268517 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 217245074 217268516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 217245074 217268516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 217249378 242464793 Loss Bladder cancer array-CGH 21909424 AAMP,ABCB6,ACSL3,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANKZF1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG9A,B3GNT7,BCS1L,C2orf54,C2orf57,C2orf62,C2orf72,C2orf82,C2orf83,CAB39,CAPN10,CCDC108,CCDC140,CCL20,CDK5R2,CHPF,CHRND,CHRNG,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CRYBA2,CTDSP1,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP27A1,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,EPHA4,ESPNL,FAM124B,FAM134A,FARP2,FARSB,FBXO36,FEV,FLJ43879,GBX2,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,IGFBP2,IGFBP5,IHH,ILKAP,INHA,INPP5D,IQCA1,IRS1,ITM2C,KCNE4,KCNJ13,KIF1A,KLHL30,LINC00471,LINC00608,LOC100129175,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2467,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MIR548AR,MIR5702,MIR5703,MLPH,MOGAT1,MRPL44,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NGEF,NHEJ1,NMUR1,NPPC,NYAP2,OBSL1,OR6B2,OR6B3,OTOS,PASK,PAX3,PDE6D,PER2,PID1,PLCD4,PNKD,PP14571,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTMA,PTPRN,RAB17,RAMP1,RBM44,RESP18,RHBDD1,RNF25,RNPEPL1,RPL37A,RQCD1,RUFY4,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SMARCAL1,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK25,STK36,TIGD1,TM4SF20,TMBIM1,TMEM198,TNP1,TNS1,TRAF3IP1,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP37,USP40,VIL1,WDFY1,WDR69,WNT10A,WNT6,ZFAND2B,ZNF142 chr22 17252036 17274719 Gain Normal TaqMan assays 20972442 XKR3 chr22 17252341 17382662 Deletion Breast cancer Illumina high-density SNP arrays 18852474 HSFY1P1,XKR3 chr22 17256416 17386984 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 HSFY1P1,XKR3 chr22 17256416 17386984 Duplication Normal Affymetrix 6.0 microarrays 20967226 HSFY1P1,XKR3 chr22 17256416 17386984 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HSFY1P1,XKR3 chr22 17256416 17414451 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 HSFY1P1,XKR3 chr22 17256428 17257461 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 17256713 17386984 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 HSFY1P1,XKR3 chr22 17257461 17289276 Gain Normal Birdsuite, version 1.5.2 22087296 XKR3 chr22 17257787 17378408 Duplication Normal Affymetrix 6.0 microarrays 20967226 HSFY1P1,XKR3 chr22 17257787 19791274 Gain Autism - 20841430 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17257787 19792353 Deletion Schizophrenia PennCNV software 19197363 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17257787 19792353 Heterozygous deletion Pleomorphic xanthoastrocytoma SNP array 20730472 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17257787 19793730 Gain Autism qPCR 20531469 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17257787 19795780 Gain Autism qPCR, Illumina1M 20531469 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17258001 17264500 Copy number Normal ReadDepth: A Parallel R Package 21305028 XKR3 chr22 17258298 17260305 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr22 17258339 19786713 Microdeletions Autism high-density single nucleotide polymorphism arrays 19843651 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17258339 19786713 Microdeletions idiopathic generalized epilepsy Array CGH 19843651 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17258339 19786713 Microdeletions Schizophrenia high-density single nucleotide polymorphism arrays 19843651 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17260188 17261652 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr22 17260696 17262161 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr22 17261435 17395813 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17261435 17395813 Copy number gain Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17261435 17398306 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17261435 17399282 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17261435 17399282 Copy number gain Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17261435 17399806 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17261435 17399806 Copy number gain Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17261435 17400168 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17264501 17271000 Copy number Normal ReadDepth: A Parallel R Package 21305028 XKR3 chr22 17268202 17395813 Allelic imbalance Normal High-resolution SNP genotyping 21211785 HSFY1P1,XKR3 chr22 17268346 17274145 Gain and loss Pancreatic cancer SNP array 17952125 XKR3 chr22 17269781 17378492 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 HSFY1P1,XKR3 chr22 17271001 17303000 Copy number Normal ReadDepth: A Parallel R Package 21305028 XKR3 chr22 17271526 19707507 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17271526 32506155 Duplication Acute myeloid leukemia - 21251322 ADORA2A,ADRBK2,AIFM3,AP1B1,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf24,C22orf25,C22orf29,C22orf31,C22orf39,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXW4P1,FLJ41941,GAB4,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,HORMAD2,HPS4,HSCB,HSFY1P1,IGLL1,IGLL3P,IGLL5,IL17RA,INPP5J,KIAA1656,KIAA1671,KLHL22,KREMEN1,LIF,LIMK2,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3928,MIR4761,MIR548J,MIR648,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MRPL40,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,PRR14L,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC7A4,SMARCB1,SMTN,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TRMT2A,TSSK2,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 17273779 17279600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XKR3 chr22 17273779 17279600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XKR3 chr22 17274849 17298620 Gain and loss Pancreatic cancer SNP array 17952125 XKR3 chr22 17275764 19785014 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17279496 19829971 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17280295 17304066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XKR3 chr22 17280295 17304066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XKR3 chr22 17289032 19636110 Deletion prenatal diagnosis arrayCGH 22389664 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SLC25A1,SLC25A18,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17289276 17299491 Gain Normal Birdsuite, version 1.5.2 22087296 XKR3 chr2 217291508 217317701 Gain Autism qPCR 20531469 SMARCAL1 chr22 17295347 17792353 Loss Asthma Illumina 550K SNP array 20841430 CECR1,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,GAB4,HSFY1P1,IL17RA,XKR3 chr22 17295963 19782237 Loss Asthma Illumina 550K SNP array 20841430 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18,XKR3 chr22 17299491 17331545 Gain Normal Birdsuite, version 1.5.2 22087296 HSFY1P1,XKR3 chr2 217300571 217301188 Gain and loss Pancreatic cancer SNP array 17952125 SMARCAL1 chr22 17303001 17319500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSFY1P1 chr22 17306205 17306305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17306464 17306559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17307231 17308997 Gain and loss Pancreatic cancer SNP array 17952125 HSFY1P1 chr2 217311410 217311510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMARCAL1 chr22 17319501 17346500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 217323659 217354662 Gain and loss Pancreatic cancer SNP array 17952125 SMARCAL1 chr22 17331545 17386125 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 17332581 17356695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17343340 19792353 Duplication Schizophrenia PennCNV software 19197363 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,UFD1L,USP18 chr22 17346501 17392500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 17357576 17357640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 217362335 217385777 Gain and loss Pancreatic cancer SNP array 17952125 RPL37A chr22 17363351 17407078 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 17363351 17436267 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 NOT_FOUND chr22 17363351 17436267 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 217366457 217366568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17376298 21479136 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MED15,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,POM121L4P,PRODH,RANBP1,RIMBP3,RTN4R,SCARF2,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UFD1L,USP18,ZDHHC8,ZNF74 chr22 17385346 17387760 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr22 17386126 18691917 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ATP6V1E1,BCL2L13,BID,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,FLJ41941,GAB4,IL17RA,MICAL3,MIR3198-1,MIR648,PEX26,SLC25A18,TUBA8,USP18 chr22 17386984 18831484 Copy number Schizophrenia - 18511947 ATP6V1E1,BCL2L13,BID,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,FLJ41941,GAB4,GGT3P,IL17RA,MICAL3,MIR3198-1,MIR648,PEX26,SLC25A18,TUBA8,USP18 chr22 17391395 17436267 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 17391395 17436267 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 17392501 17410500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 17394067 17396638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17398355 17484516 Gain and loss Pancreatic cancer SNP array 17952125 GAB4 chr22 17400836 17710417 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1177K arrays 21546498 CECR1,CECR5,CECR5-AS1,CECR6,CECR7,GAB4,IL17RA chr22 17403795 17489967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAB4 chr22 17403795 17489967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAB4 chr22 17404673 19998573 Copy number Schizophrenia - 18511947 ARVCF,ATP6V1E1,BCL2L13,BID,C22orf29,C22orf39,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,IL17RA,LOC150185,MICAL3,MIR3198-1,MIR4761,MIR648,MRPL40,PEX26,PRODH,SEPT5,SEPT5-GP1BB,SLC25A1,SLC25A18,TBX1,TSSK2,TUBA8,TXNRD2,UFD1L,USP18 chr22 17407323 17407432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17410501 17489000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GAB4 chr22 17412769 17412880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17423327 17424020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 217432431 217433027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 217432431 217433027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17440513 17440602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 217461405 217461505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17462469 17535453 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CECR7,GAB4 chr2 217469578 217469678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17474652 17474752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAB4 chr22 17479931 17480625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GAB4 chr22 17489001 17519500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CECR7,GAB4 chr22 17489660 17489756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17492347 17495367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17492392 17493159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17496006 17506716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17497793 17512190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17497793 17512190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17498503 17499992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17498790 17500134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17511058 17512350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17516089 17517796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CECR7 chr22 17516089 17517796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CECR7 chr22 17519501 17537500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CECR7 chr22 17537501 17551500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CECR7 chr22 17537646 17540814 Gain and loss Pancreatic cancer SNP array 17952125 CECR7 chr22 17541542 17653751 Amplification or deletion Cancer Array CGH 17440070 CECR5,CECR5-AS1,CECR6,IL17RA chr22 17541543 17653762 Gain and loss Pancreatic cancer SNP array 17952125 CECR5,CECR5-AS1,CECR6,IL17RA chr22 17543092 17546260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17543092 17546260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17545510 18351388 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ATP6V1E1,BCL2L13,BID,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,IL17RA,MICAL3,MIR3198-1,SLC25A18 chr22 17546989 17659239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CECR5,CECR5-AS1,CECR6,IL17RA chr22 17546989 17659239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CECR5,CECR5-AS1,CECR6,IL17RA chr2 217549692 217550288 Gain and loss Pancreatic cancer SNP array 17952125 IGFBP5 chr22 17551501 17866000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CECR1,CECR3,CECR5,CECR5-AS1,CECR6,IL17RA chr2 217554046 217554140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGFBP5 chr2 217555459 217555513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGFBP5 chr2 217586002 217618852 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 217589387 217589487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 217599872 217599947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17605966 17606262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17611950 17612043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17620413 17620757 Gain and loss Pancreatic cancer SNP array 17952125 CECR5 chr22 17625043 17626329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CECR5 chr22 17627916 17628102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CECR5 chr2 217646764 218018585 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TNP1 chr2 217664140 217665515 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 217673620 217673720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17692778 17793773 Gain and loss Pancreatic cancer SNP array 17952125 CECR3 chr22 17696975 19515310 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ATP6V1E1,BCL2L13,BID,C22orf39,CDC45,CECR2,CECR3,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,FLJ41941,GGT3P,GSC2,HIRA,MICAL3,MIR3198-1,MIR648,MRPL40,PEX26,PRODH,SLC25A1,SLC25A18,TSSK2,TUBA8,UFD1L,USP18 chr22 17698224 17799219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CECR3 chr22 17698224 17799219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CECR3 chr22 17703575 17736023 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 217713200 217713278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17722000 17723000 Amplification Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 NOT_FOUND chr22 17722000 17723000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 NOT_FOUND chr22 17723209 17756438 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CECR3 chr22 17727842 17728121 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 217732163 217732243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17733288 17733567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17733289 17733565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17793979 17798148 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17800036 17803594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17800036 17803594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17802971 17809773 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17808409 17815755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17808409 17815755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17812702 17841240 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17817700 17846726 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 NOT_FOUND chr22 17817701 17846726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17817701 17846726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17830145 17841528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 217832338 217832438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17836155 17871304 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 17841970 17882688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17846982 17888135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17846982 17888135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17862473 17862573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17866001 17867500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 17867501 17883500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 217869340 217869372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 217877985 217878085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17883501 17896000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 217884782 217884876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17885104 17889622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 17890547 17895068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17890547 17895068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 17890549 17892860 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 NOT_FOUND chr22 17896001 18024000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CECR2 chr22 17900000 22200000 Copy number Autism References 19521722 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 22200000 Copy number Digeorge syndrome References 19521722 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 22200000 Deletion or duplication Autism Array CGH 19955444 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 22200000 Deletion or duplication Schizophrenia Array CGH 19955444 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 22200000 Duplication Mental retardation array CGH 17124404 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 22200000 Duplication Neuropsychiatric disorder BeadChip technology with a Single Nucleotide Polymorphism based array; Illumina HD Human610-quad BeadChip platform 20069037 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 22200000 Duplication Tourette syndrome BeadChip technology with a Single Nucleotide Polymorphism based array; Illumina HD Human610-quad BeadChip platform 20069037 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 22200000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 22200000 Gain Williams-beuren syndrome Affymetrix GeneChip Human Mapping NspI Array 18553513 AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CDC45,CECR2,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,YDJC,YPEL1,ZDHHC8,ZNF74 chr22 17900000 25900000 Copy number Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Deletion Cancer Array CGH 17440070 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Deletion Digeorge syndrome references 17576883 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Deletion DiGeorge-Velo cardiofacial references 17597781 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Deletion or duplication Neurodevelopmental disorder References 17015230 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Deletion Schizophrenia Affymetrix GeneChip Human Mapping 250K NspI Array 18806272 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Deletion Schizophrenia References 18990708 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Deletion Schizophrenia References 20075378 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Deletion Velocardiofacial syndrome references 17576883 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Duplication Neuropsychiatric disorder BeadChip technology with a Single Nucleotide Polymorphism based array; Illumina HD Human610-quad BeadChip platform 20069037 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 25900000 Gain Williams-beuren syndrome Affymetrix GeneChip Human Mapping NspI Array 18553513 ADORA2A,AIFM3,ARVCF,ATP6V1E1,BCL2L13,BCR,BCRP2,BCRP3,BID,C22orf13,C22orf15,C22orf25,C22orf29,C22orf39,C22orf43,C22orf45,CABIN1,CCDC116,CDC45,CECR2,CES5AP1,CHCHD10,CLDN5,CLTCL1,COMT,CRKL,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FAM211B,FBXW4P1,FLJ41941,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HIRA,IGLL1,IGLL3P,IGLL5,KIAA1671,KLHL22,LOC100128531,LOC150185,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MICAL3,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MIR650,MMP11,MRPL40,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,PRODH,RAB36,RANBP1,RGL4,RIMBP3,RIMBP3B,RIMBP3C,RTDR1,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SGSM1,SLC25A1,SLC25A18,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNRPD3,SPECC1L,SUSD2,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,UPB1,USP18,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNF74 chr22 17900000 51304566 Copy number Endometrioid adenocarcinoma CGH 16974079 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CDC42EP1,CDC45,CDPF1,CECR2,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IGLL1,IGLL3P,IGLL5,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr2 217912070 217912170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 217929290 217929390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17938174 17938341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 17938243 17938306 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 217945526 219531742 LOH Normal - 20944671 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CXCR2,CXCR2P1,DIRC3,GPBAR1,MIR26B,PLCD4,PNKD,RNF25,RQCD1,RUFY4,SLC11A1,TMBIM1,TNS1,USP37,VIL1,ZNF142 chr2 217950279 218538937 LOH Normal High-resolution SNP genotyping 21211785 DIRC3 chr22 17951619 17953101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 17951645 17953028 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 21796604 21796826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 21796703 21796803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 21796809 21797058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 21796811 21796930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 17998273 18001097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CECR2 chr2 218020485 218020585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 18024001 18027500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CECR2 chr22 18027501 18072000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CECR2,SLC25A18 chr22 18064399 18064522 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC25A18 chr2 218065113 218065190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 18072001 18138500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V1E1,BCL2L13,SLC25A18 chr22 18076576 18085396 Amplification or deletion Cancer Array CGH 17440070 ATP6V1E1 chr22 18076577 18086848 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1E1 chr22 18081986 18092297 Gain or loss Breast cancer - 20668451 ATP6V1E1 chr22 18081986 18092297 Gain or loss Cancer - 20668451 ATP6V1E1 chr22 18081986 18092297 Gain or loss Lung cancer - 20668451 ATP6V1E1 chr22 18081986 18092297 Gain or loss Ovarian cancer - 20668451 ATP6V1E1 chr22 18081986 18092297 Gain or loss Pancreas cancer - 20668451 ATP6V1E1 chr22 18081986 18092297 Gain or loss Prostate cancer - 20668451 ATP6V1E1 chr22 18081987 18092297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP6V1E1 chr22 18081987 18092297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP6V1E1 chr22 18081987 18092297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP6V1E1 chr22 18091066 18092297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP6V1E1 chr22 18091066 18092297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP6V1E1 chr22 18091066 18092297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP6V1E1 chr22 18106546 18106611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP6V1E1 chr22 18118780 18145099 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L13 chr22 18124226 18134855 Copy number Autism exome sequencing 22495311 BCL2L13 chr22 18124226 18151110 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCL2L13 chr22 18124226 18151110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L13 chr22 18124226 18151110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L13 chr22 18138501 18151500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13 chr22 18145301 18216957 Gain and loss Pancreatic cancer SNP array 17952125 BCL2L13,BID chr22 18150747 18222403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCL2L13,BID chr22 18150747 18222462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L13,BID chr22 18150747 18222462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L13,BID chr22 18151501 18157000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13 chr22 18155933 18222462 Copy number Infertility real-time PCR assay 21898105 BCL2L13,BID chr22 18155933 18222462 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 BCL2L13,BID chr22 18157001 18165500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13 chr22 18159817 18160614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL2L13 chr22 18159817 18160614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL2L13 chr22 18165501 18172000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13 chr22 18165773 18342753 Copy number Normal Quantitative Real-Time PCR 17666543 BCL2L13,BID,MICAL3,MIR3198-1 chr22 18171223 18172203 Gain Normal BAC array 16365383 BCL2L13 chr22 18172001 18185500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13 chr2 218180572 218180772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr2 218180671 218180771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr2 218180762 218180862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr2 218180762 218180990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr22 18185501 18190500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13 chr22 18190501 18209500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13 chr22 18209501 18213000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13 chr22 18213001 18218500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCL2L13,BID chr22 18213661 18222419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BID chr22 18213661 18222419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BID chr22 18213671 18222339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BID chr22 18218501 18223500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BID chr2 218223315 218223415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr22 18236501 18257000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BID,MIR3198-1 chr22 18237600 18304069 Gain and loss Pancreatic cancer SNP array 17952125 BID,MICAL3,MIR3198-1 chr2 218241187 218241287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr22 18243040 18309359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BID,MICAL3,MIR3198-1 chr22 18243040 18309359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BID,MICAL3,MIR3198-1 chr22 18243040 18309515 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BID,MICAL3,MIR3198-1 chr22 18250975 18261113 Gain and loss Pancreatic cancer SNP array 17952125 BID chr22 18254812 18255493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BID chr22 18257001 18288000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BID,MICAL3 chr22 18262120 18290595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MICAL3 chr2 218264847 218265093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr22 18285974 18286057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICAL3 chr22 18288001 18320500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL3 chr22 18303863 18331084 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3 chr22 18309090 18328444 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 MICAL3 chr22 18309256 18336539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18309256 18336539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18309308 18336530 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 MICAL3 chr22 18309334 18337450 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICAL3 chr22 18320501 18329000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL3 chr22 18327295 18327364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MICAL3 chr2 218327527 218327627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr22 18329001 18332000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL3 chr2 218331795 218331895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr22 18331975 18378863 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3 chr22 18332001 18342000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL3 chr22 18337421 18384309 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICAL3 chr22 18337421 18384309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18337421 18384309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18342001 18360500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL3 chr2 218358001 218609000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIRC3 chr2 218360000 218940000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 CXCR2P1,DIRC3,RUFY4,TNS1 chr22 18360501 18438000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL3 chr22 18366708 18400823 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MICAL3 chr22 18366834 18366933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICAL3 chr2 218372756 218517041 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 DIRC3 chr2 218372757 218517041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIRC3 chr2 218372757 218517041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIRC3 chr22 18383185 18428002 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3 chr22 18384537 18433449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18384537 18433449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18388631 18433447 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICAL3 chr22 18395216 18395297 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3 chr22 18400662 18400743 Amplification Acute myeloid leukemia BAC aCGH 20962326 MICAL3 chr22 18400662 18400743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18401047 18684001 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ41941,MICAL3,MIR648,PEX26,TUBA8,USP18 chr2 218401435 242142395 Loss Renal cell carcinoma GeneChip Human Mapping 50K Hind Array 21668985 AAMP,ABCB6,ACSL3,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANKZF1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ATG16L1,ATG9A,B3GNT7,BCS1L,C2orf54,C2orf57,C2orf62,C2orf72,C2orf82,C2orf83,CAB39,CAPN10,CCDC108,CCDC140,CCL20,CDK5R2,CHPF,CHRND,CHRNG,CNPPD1,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CRYBA2,CTDSP1,CUL3,CXCR1,CXCR2,CXCR2P1,CXCR7,CYP27A1,DES,DGKD,DIRC3,DIS3L2,DNAJB2,DNAJB3,DNER,DNPEP,DOCK10,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,EPHA4,ESPNL,FAM124B,FAM134A,FARSB,FBXO36,FEV,FLJ43879,GBX2,GIGYF2,GLB1L,GMPPA,GPBAR1,GPC1,GPR35,GPR55,HDAC4,HES6,HJURP,HTR2B,IHH,ILKAP,INHA,INPP5D,IQCA1,IRS1,ITM2C,KCNE4,KCNJ13,KIF1A,KLHL30,LINC00471,LINC00608,LOC100129175,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR153-1,MIR2467,MIR26B,MIR3131,MIR3132,MIR375,MIR4268,MIR4269,MIR4439,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MIR548AR,MIR5702,MIR5703,MLPH,MOGAT1,MRPL44,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NGEF,NHEJ1,NMUR1,NPPC,NYAP2,OBSL1,OR6B2,OR6B3,OTOS,PASK,PAX3,PDE6D,PER2,PID1,PLCD4,PNKD,PP14571,PPP1R7,PRKAG3,PRLH,PRR21,PRSS56,PSMD1,PTMA,PTPRN,RAB17,RAMP1,RBM44,RESP18,RHBDD1,RNF25,RNPEPL1,RQCD1,RUFY4,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SERPINE2,SGPP2,SH3BP4,SLC11A1,SLC16A14,SLC19A3,SLC23A3,SLC4A3,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPEG,SPHKAP,SPP2,STK11IP,STK16,STK36,TIGD1,TM4SF20,TMBIM1,TMEM198,TNS1,TRAF3IP1,TRIP12,TRPM8,TTLL4,TUBA4A,TUBA4B,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP37,USP40,VIL1,WDFY1,WDR69,WNT10A,WNT6,ZFAND2B,ZNF142 chr2 218413390 219628584 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CXCR2,CXCR2P1,DIRC3,GPBAR1,MIR26B,PLCD4,PNKD,RNF25,RQCD1,RUFY4,SLC11A1,STK36,TMBIM1,TNS1,TTLL4,USP37,VIL1,ZNF142 chr22 18438001 18472000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL3,MIR648 chr22 18442360 18473950 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3,MIR648 chr22 18447814 18479391 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICAL3,MIR648 chr22 18447814 18479395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICAL3,MIR648 chr22 18447814 18479395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3,MIR648 chr22 18453581 18453665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18459484 18460484 Gain Chordoma References 21215367 MICAL3 chr22 18472001 18498000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MICAL3 chr22 18473952 18479258 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3 chr22 18479398 18484768 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICAL3 chr22 18479398 18484915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18479398 18484915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18479578 18489258 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3 chr22 18482090 18647705 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ41941,MICAL3,PEX26,TUBA8,USP18 chr22 18484947 18494878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18484947 18494878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18485024 18494704 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MICAL3 chr22 18489340 18489435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MICAL3 chr2 218490031 218634267 Gain and loss Pancreatic cancer SNP array 17952125 DIRC3 chr2 218490383 218490693 Gain and loss Pancreatic cancer SNP array 17952125 DIRC3 chr22 18490859 18490967 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3 chr2 218493430 218493510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr22 18493918 18508512 Gain and loss Pancreatic cancer SNP array 17952125 MICAL3 chr22 18493925 18494049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18496305 18496413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MICAL3 chr22 18498001 18565500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ41941,MICAL3,PEX26 chr22 18499364 18515529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ41941,MICAL3 chr22 18499364 18515529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ41941,MICAL3 chr22 18499364 18515529 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 FLJ41941,MICAL3 chr22 18499364 18515529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ41941,MICAL3 chr22 18525322 18525646 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 18529953 18529978 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr22 18530629 18530648 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr22 18531250 18531269 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr2 218531796 218531896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC3 chr22 18545266 18647705 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 PEX26,TUBA8,USP18 chr22 18562002 18748556 Duplication Autism Array CGH 22102821 PEX26,TUBA8,USP18 chr22 18568474 18570601 Gain and loss Pancreatic cancer SNP array 17952125 PEX26 chr22 18569001 18659000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PEX26,TUBA8,USP18 chr22 18574100 18574706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 18577713 20667607 Amplification Esophageal cancer affymetrix genechip human mapping 262K Nsp arrays 21851588 ARVCF,C22orf25,C22orf29,C22orf39,CDC45,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,GGT3P,GNB1L,GP1BB,GSC2,HIRA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MIR1286,MIR1306,MIR185,MIR3618,MIR4761,MRPL40,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TMEM191B,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,ZDHHC8 chr22 18603494 18630370 Gain and loss Pancreatic cancer SNP array 17952125 TUBA8 chr2 218607956 218663548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIRC3 chr2 218607956 218663548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIRC3 chr22 18608937 18635816 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 TUBA8,USP18 chr22 18608938 18635838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBA8,USP18 chr22 18608938 18635838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBA8,USP18 chr22 18608953 18635823 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TUBA8,USP18 chr22 18614988 18615088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 18616657 18616734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218637001 218644000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 218648269 220318949 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ABCB6,ANKZF1,ARPC2,ATG9A,BCS1L,C2orf62,CCDC108,CDK5R2,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CXCR2P1,CYP27A1,DES,DNAJB2,DNPEP,FAM134A,FEV,GLB1L,GPBAR1,IHH,LINC00608,LOC100129175,MIR153-1,MIR26B,MIR3131,MIR375,NHEJ1,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RQCD1,RUFY4,SLC11A1,SLC23A3,SPEG,STK16,STK36,TMBIM1,TNS1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,WNT10A,WNT6,ZFAND2B,ZNF142 chr2 218653288 218653388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 218653473 219601333 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-378K arrays 21546498 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CXCR2,CXCR2P1,GPBAR1,MIR26B,PLCD4,PNKD,RNF25,RQCD1,RUFY4,SLC11A1,STK36,TMBIM1,TNS1,TTLL4,USP37,VIL1,ZNF142 chr22 18659001 18665500 Copy number Normal ReadDepth: A Parallel R Package 21305028 USP18 chr2 218659063 218659150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 18665501 18691000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 18668600 18674270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18674046 18676915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 18674046 18676915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18676356 18682162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18681802 18687608 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 18681802 18687608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18681802 18687608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218683459 218683558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNS1 chr22 18683947 19129051 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR9,GGT3P,PRODH,TSSK2 chr22 18684534 18879111 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GGT3P chr22 18686287 18984130 Loss Normal 244K array 17666407 DGCR5,DGCR6,GGT3P,PRODH chr2 218695791 218728875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TNS1 chr2 218698242 218710220 Gain or loss Breast cancer - 20668451 TNS1 chr2 218698242 218710220 Gain or loss Cancer - 20668451 TNS1 chr2 218698242 218710220 Gain or loss Lung cancer - 20668451 TNS1 chr2 218698242 218710220 Gain or loss Ovarian cancer - 20668451 TNS1 chr2 218698242 218710220 Gain or loss Pancreas cancer - 20668451 TNS1 chr2 218698242 218710220 Gain or loss Prostate cancer - 20668451 TNS1 chr2 218698991 218710220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNS1 chr2 218698991 218710220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNS1 chr22 18700220 18717509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18705666 18722955 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 18705666 18722955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18730751 18951000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DGCR6,GGT3P,PRODH chr2 218734097 218735462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TNS1 chr22 18734851 18739850 Loss Normal TaqMan assays 20972442 NOT_FOUND chr2 218735812 218739961 Gain or loss Breast cancer - 20668451 TNS1 chr2 218735812 218739961 Gain or loss Cancer - 20668451 TNS1 chr2 218735812 218739961 Gain or loss Lung cancer - 20668451 TNS1 chr2 218735812 218739961 Gain or loss Ovarian cancer - 20668451 TNS1 chr2 218735812 218739961 Gain or loss Pancreas cancer - 20668451 TNS1 chr2 218735812 218739961 Gain or loss Prostate cancer - 20668451 TNS1 chr2 218735815 218739961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNS1 chr2 218735815 218739961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNS1 chr22 18740922 18742333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18746202 18748028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18746368 18747797 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 218748822 218780809 Gain and loss Pancreatic cancer SNP array 17952125 TNS1 chr2 218750568 218751622 Gain and loss Pancreatic cancer SNP array 17952125 TNS1 chr2 218752700 219598741 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CXCR2,CXCR2P1,GPBAR1,MIR26B,PLCD4,PNKD,RNF25,RQCD1,RUFY4,SLC11A1,STK36,TMBIM1,TNS1,TTLL4,USP37,VIL1,ZNF142 chr2 218757949 218758050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNS1 chr22 18758069 18802360 Gain and loss Pancreatic cancer SNP array 17952125 GGT3P chr22 18759677 18760326 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 18759677 18760438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18763515 18782426 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GGT3P chr22 18763538 18782426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GGT3P chr22 18777856 19035775 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DGCR10,DGCR11,DGCR2,DGCR5,DGCR6,DGCR9,GGT3P,PRODH chr2 218783593 218783661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNS1 chr2 218790119 218827324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNS1 chr2 218790119 218827324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNS1 chr2 218816252 218827481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18829776 18829918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18830004 18830086 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18830006 18830085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18830193 18830523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18830286 18830523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 218830501 218966000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CXCR2P1,RUFY4 chr22 18830936 18834439 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18835222 18835364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18835450 18835532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18835669 18835969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18835682 18841409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18835682 18841409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218835693 218836684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18836382 18841019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 218837099 218843137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218837099 218843137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18840006 18840203 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 218843359 218919756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RUFY4 chr2 218843359 218919756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUFY4 chr22 18845452 18845649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218846433 218877750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 218847161 218865524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218847161 218865524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218847217 218847647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218853076 218857222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18853206 18855156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218854709 218854774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 218858915 218862110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18860869 18863436 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 218866143 218866243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 218875210 218875311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 18879890 18883484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 18890271 18894894 Deletion Digeorge syndrome array CGH 21545739 DGCR6 chr22 18890615 18890615 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr22 18890615 18890615 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr22 18894894 18894894 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 DGCR6 chr22 18894894 18894894 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 DGCR6 chr2 218901928 218938046 Copy number gain Normal High-resolution SNP genotyping 21211785 CXCR2P1,RUFY4 chr2 218907380 218944576 Gain and loss Pancreatic cancer SNP array 17952125 CXCR2P1,RUFY4 chr2 218915234 218915311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUFY4 chr2 218929823 218941060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RUFY4 chr2 218929823 218941060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUFY4 chr2 218933879 219473230 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,C2orf62,CTDSP1,CXCR1,CXCR2,GPBAR1,MIR26B,PLCD4,PNKD,RQCD1,RUFY4,SLC11A1,TMBIM1,USP37,VIL1 chr22 18935464 18935519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 18935803 18940755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 218936893 218936982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUFY4 chr2 218938046 219859066 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,BCS1L,C2orf62,CDK5R2,CRYBA2,CTDSP1,CXCR1,CXCR2,CYP27A1,FEV,GPBAR1,LINC00608,MIR26B,PLCD4,PNKD,PRKAG3,RNF25,RQCD1,RUFY4,SLC11A1,STK36,TMBIM1,TTLL4,USP37,VIL1,WNT10A,WNT6,ZNF142 chr22 18940447 18946201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218944875 218944945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RUFY4 chr2 218949725 218954087 Gain and loss Pancreatic cancer SNP array 17952125 RUFY4 chr22 18951001 19123000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR9,TSSK2 chr2 218954356 218960371 Gain and loss Pancreatic cancer SNP array 17952125 RUFY4 chr2 218954996 218969860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RUFY4 chr2 218954996 218969860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUFY4 chr22 18956686 18981269 Gain and loss Pancreatic cancer SNP array 17952125 DGCR5 chr2 218960620 219037017 Gain and loss Pancreatic cancer SNP array 17952125 CXCR1,CXCR2 chr22 18962132 18986715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGCR5 chr22 18962132 18986715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR5 chr22 18964386 19036948 Gain and loss Pancreatic cancer SNP array 17952125 DGCR10,DGCR11,DGCR2,DGCR5,DGCR9 chr2 218964422 218982785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 218966001 218979500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 218972721 218978908 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 218972722 218978907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218972722 218978907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218975613 218975689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 218976179 219603469 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CXCR2,GPBAR1,MIR26B,PLCD4,PNKD,RNF25,RQCD1,SLC11A1,STK36,TMBIM1,TTLL4,USP37,VIL1,ZNF142 chr2 218976179 220110912 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ABCB6,ANKZF1,ARPC2,ATG9A,BCS1L,C2orf62,CCDC108,CDK5R2,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CYP27A1,FAM134A,FEV,GLB1L,GPBAR1,IHH,LINC00608,LOC100129175,MIR26B,MIR3131,MIR375,NHEJ1,PLCD4,PNKD,PRKAG3,RNF25,RQCD1,SLC11A1,SLC23A3,STK16,STK36,TMBIM1,TTLL4,USP37,VIL1,WNT10A,WNT6,ZFAND2B,ZNF142 chr2 218976283 219714615 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CXCR2,CYP27A1,GPBAR1,MIR26B,PLCD4,PNKD,PRKAG3,RNF25,RQCD1,SLC11A1,STK36,TMBIM1,TTLL4,USP37,VIL1,ZNF142 chr2 218976283 219742781 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CXCR2,CYP27A1,GPBAR1,MIR26B,PLCD4,PNKD,PRKAG3,RNF25,RQCD1,SLC11A1,STK36,TMBIM1,TTLL4,USP37,VIL1,WNT6,ZNF142 chr2 218976283 220232739 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ABCB6,ANKZF1,ARPC2,ATG9A,BCS1L,C2orf62,CCDC108,CDK5R2,CNPPD1,CRYBA2,CTDSP1,CXCR1,CXCR2,CYP27A1,DNAJB2,FAM134A,FEV,GLB1L,GPBAR1,IHH,LINC00608,LOC100129175,MIR153-1,MIR26B,MIR3131,MIR375,NHEJ1,PLCD4,PNKD,PRKAG3,PTPRN,RESP18,RNF25,RQCD1,SLC11A1,SLC23A3,STK16,STK36,TMBIM1,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,WNT10A,WNT6,ZFAND2B,ZNF142 chr2 218979501 219009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CXCR2 chr2 218983853 219624995 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CXCR2,GPBAR1,MIR26B,PLCD4,PNKD,RNF25,RQCD1,SLC11A1,STK36,TMBIM1,TTLL4,USP37,VIL1,ZNF142 chr2 218983853 219853468 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,BCS1L,C2orf62,CDK5R2,CTDSP1,CXCR1,CXCR2,CYP27A1,FEV,GPBAR1,LINC00608,MIR26B,PLCD4,PNKD,PRKAG3,RNF25,RQCD1,SLC11A1,STK36,TMBIM1,TTLL4,USP37,VIL1,WNT10A,WNT6,ZNF142 chr22 18984101 19886068 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 C22orf29,C22orf39,CDC45,CLDN5,CLTCL1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR9,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,TXNRD2,UFD1L chr22 18987082 18987905 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr22 18989547 18989606 Loss Urothelial carcinoma array CGH validated by FISH 21177765 NOT_FOUND chr2 218992089 219026262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CXCR2 chr2 218992089 219026262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CXCR2 chr22 1 9000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 NOT_FOUND chr2 219000007 219000107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CXCR2 chr22 19000709 19004508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219002404 219714615 LOH Normal High-resolution SNP genotyping 21211785 AAMP,ARPC2,BCS1L,C2orf62,CTDSP1,CXCR1,CYP27A1,GPBAR1,MIR26B,PLCD4,PNKD,PRKAG3,RNF25,RQCD1,SLC11A1,STK36,TMBIM1,TTLL4,USP37,VIL1,ZNF142 chr22 19017176 19041201 Gain and loss Pancreatic cancer SNP array 17952125 DGCR11,DGCR2 chr22 19019404 19021872 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr22 19021417 19021831 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr22 19021520 19022255 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr22 19021783 19022252 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr22 19022622 19046647 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGCR11,DGCR2 chr22 19022622 19046647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGCR11,DGCR2 chr22 19022622 19046647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR11,DGCR2 chr2 219023217 219141328 Gain or loss Breast cancer - 20668451 AAMP,ARPC2,CXCR1,GPBAR1,PNKD,TMBIM1 chr2 219023217 219141328 Gain or loss Cancer - 20668451 AAMP,ARPC2,CXCR1,GPBAR1,PNKD,TMBIM1 chr2 219023217 219141328 Gain or loss Lung cancer - 20668451 AAMP,ARPC2,CXCR1,GPBAR1,PNKD,TMBIM1 chr2 219023217 219141328 Gain or loss Ovarian cancer - 20668451 AAMP,ARPC2,CXCR1,GPBAR1,PNKD,TMBIM1 chr2 219023217 219141328 Gain or loss Pancreas cancer - 20668451 AAMP,ARPC2,CXCR1,GPBAR1,PNKD,TMBIM1 chr2 219023217 219141328 Gain or loss Prostate cancer - 20668451 AAMP,ARPC2,CXCR1,GPBAR1,PNKD,TMBIM1 chr2 219023218 219141327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AAMP,ARPC2,CXCR1,GPBAR1,PNKD,TMBIM1 chr2 219023218 219141327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAMP,ARPC2,CXCR1,GPBAR1,PNKD,TMBIM1 chr2 219023848 219121750 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARPC2,CXCR1 chr22 19025750 19025850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGCR2 chr2 219031410 219031504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CXCR1 chr22 19033763 19040668 Gain and loss Pancreatic cancer SNP array 17952125 DGCR11,DGCR2 chr22 19042465 19056099 Gain and loss Pancreatic cancer SNP array 17952125 DGCR2 chr22 19044640 19046114 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGCR2 chr22 19044640 19046114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR2 chr22 19046936 19795835 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr2 219047084 219058321 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19047910 19061542 Gain or loss Breast cancer - 20668451 DGCR2 chr22 19047910 19061542 Gain or loss Cancer - 20668451 DGCR2 chr22 19047910 19061542 Gain or loss Lung cancer - 20668451 DGCR2 chr22 19047910 19061542 Gain or loss Ovarian cancer - 20668451 DGCR2 chr22 19047910 19061542 Gain or loss Pancreas cancer - 20668451 DGCR2 chr22 19047910 19061542 Gain or loss Prostate cancer - 20668451 DGCR2 chr22 19047911 19112479 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGCR2 chr22 19047911 19112479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGCR2 chr22 19047911 19112479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR2 chr22 19051464 19793730 Gain Autism MLPA 20531469 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19051464 19795780 Gain Autism qPCR 20531469 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19057000 19785000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19060000 20130000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 ARVCF,C22orf25,C22orf29,C22orf39,CDC45,CLDN5,CLTCL1,COMT,DGCR14,DGCR2,DGCR8,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MIR1306,MIR185,MIR3618,MIR4761,MRPL40,RANBP1,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TRMT2A,TSSK2,TXNRD2,UFD1L,ZDHHC8 chr2 219061993 219095411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARPC2 chr22 19062809 19791607 Deletion cleft palate - 20877625 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19062809 19791607 Deletion Mental retardation - 20877625 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19062809 19791607 Deletion Mental retardation FISH Pos 20877625 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19062809 19791607 Deletion Microcephaly - 20877625 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19062809 19791607 Deletion retrognathia - 20877625 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19062809 19791607 Deletion short stature - 20877625 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19062809 19791607 Deletion Tetralogy of Fallot - 20877625 C22orf39,CDC45,CLDN5,CLTCL1,DGCR14,DGCR2,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,UFD1L chr22 19063495 19358946 Gain Autism qPCR 20531469 CLTCL1,DGCR14,DGCR2,GSC2,HIRA,SLC25A1,TSSK2 chr2 219072422 219086254 Gain and loss Pancreatic cancer SNP array 17952125 ARPC2 chr22 19073026 19086524 Gain and loss Pancreatic cancer SNP array 17952125 DGCR2 chr2 219073692 219074004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19078418 19092752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGCR2 chr22 19078418 19092752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR2 chr22 19078450 19092752 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 DGCR2 chr22 19078480 19092752 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGCR2 chr2 219089983 219096168 Gain and loss Pancreatic cancer SNP array 17952125 ARPC2 chr2 219092871 219092954 Gain and loss Pancreatic cancer SNP array 17952125 ARPC2 chr22 19095641 19095743 Gain and loss Pancreatic cancer SNP array 17952125 DGCR2 chr22 19101087 19101189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR2 chr22 19103429 19116700 Gain and loss Pancreatic cancer SNP array 17952125 DGCR2 chr22 19107672 19107747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGCR2 chr22 19108874 19122146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGCR14,DGCR2,TSSK2 chr22 19108874 19122146 Deletion Van den Ende-Gupta Syndrome array CGH 22140376 DGCR14,DGCR2,TSSK2 chr22 19108874 19122146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR14,DGCR2,TSSK2 chr22 19108875 19122146 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGCR14,DGCR2,TSSK2 chr22 19113144 19129051 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 DGCR14,TSSK2 chr2 219113983 219139746 Gain and loss Pancreatic cancer SNP array 17952125 AAMP,ARPC2,GPBAR1,PNKD,TMBIM1 chr2 219118928 219119028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARPC2 chr22 19120360 19174676 Gain and loss Pancreatic cancer SNP array 17952125 CLTCL1,DGCR14,GSC2,SLC25A1 chr22 19123001 19127000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DGCR14 chr2 219124599 219124699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 19125806 19180122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLTCL1,DGCR14,GSC2,SLC25A1 chr22 19125806 19180122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLTCL1,DGCR14,GSC2,SLC25A1 chr22 19125806 19180122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLTCL1,DGCR14,GSC2,SLC25A1 chr22 19127001 19265500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLTCL1,DGCR14,GSC2,SLC25A1 chr22 19134521 19136111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219140479 219258554 Gain and loss Pancreatic cancer SNP array 17952125 C2orf62,PNKD,SLC11A1,TMBIM1 chr2 219141842 219167243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNKD,TMBIM1 chr2 219141842 219167243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNKD,TMBIM1 chr2 219144434 219144574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PNKD,TMBIM1 chr22 19154046 19154152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19157986 19190338 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLTCL1,SLC25A1 chr22 19159490 19159598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19159999 19160106 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19159999 19160107 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19160776 19161054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 219162181 219162287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNKD chr22 19165445 19165555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A1 chr22 19166222 19166500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A1 chr22 19167102 19168392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLTCL1 chr22 19171929 19172020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLTCL1 chr22 19172385 19746441 Amplification Cancer Affymetrix 250K Sty array 20164920 C22orf39,CDC45,CLDN5,CLTCL1,GP1BB,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,TBX1,UFD1L chr22 19176249 19192373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLTCL1 chr22 19178385 19186470 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLTCL1 chr2 219180866 219210140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNKD chr2 219180866 219210140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNKD chr2 219180875 219210148 Gain or loss Breast cancer - 20668451 PNKD chr2 219180875 219210148 Gain or loss Cancer - 20668451 PNKD chr2 219180875 219210148 Gain or loss Lung cancer - 20668451 PNKD chr2 219180875 219210148 Gain or loss Ovarian cancer - 20668451 PNKD chr2 219180875 219210148 Gain or loss Pancreas cancer - 20668451 PNKD chr2 219180875 219210148 Gain or loss Prostate cancer - 20668451 PNKD chr22 19186443 19266458 Gain and loss Pancreatic cancer SNP array 17952125 CLTCL1 chr2 219186626 219186676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PNKD chr2 219190935 219191265 Gain and loss Pancreatic cancer SNP array 17952125 PNKD chr2 219191027 219191265 Gain and loss Pancreatic cancer SNP array 17952125 PNKD chr22 19191885 19271919 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 CLTCL1 chr22 19191886 19271918 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLTCL1 chr22 19191886 19271918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLTCL1 chr22 19191886 19271918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLTCL1 chr2 219192768 219192846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNKD chr2 219195747 219228502 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2orf62,PNKD chr22 19210836 19210910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLTCL1 chr2 219210883 219231844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf62,PNKD chr2 219210883 219231844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf62,PNKD chr22 19221842 19341132 Gain Autism qPCR, MLPA 20531469 CLTCL1,HIRA chr22 19225155 19704512 Duplication Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 C22orf39,CDC45,CLDN5,CLTCL1,HIRA,LOC150185,MRPL40,SEPT5,UFD1L chr2 219226977 219272506 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2orf62,CTDSP1,MIR26B,SLC11A1 chr22 19227260 19234566 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CLTCL1 chr2 219232623 219236410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf62 chr2 219232623 219236410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf62 chr2 219234883 220344370 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ABCB6,ANKZF1,ATG9A,BCS1L,CCDC108,CDK5R2,CNPPD1,CRYBA2,CTDSP1,CYP27A1,DES,DNAJB2,DNPEP,FAM134A,FEV,GLB1L,IHH,LINC00608,LOC100129175,MIR153-1,MIR26B,MIR3131,MIR375,NHEJ1,PLCD4,PRKAG3,PTPRN,RESP18,RNF25,RQCD1,SLC11A1,SLC23A3,SPEG,STK16,STK36,TTLL4,TUBA4A,TUBA4B,USP37,VIL1,WNT10A,WNT6,ZFAND2B,ZNF142 chr2 219236832 219245025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219236832 219245025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219245036 219275678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTDSP1,MIR26B,SLC11A1 chr2 219245036 219275678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDSP1,MIR26B,SLC11A1 chr2 219251485 219251544 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 SLC11A1 chr22 19258848 19285225 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLTCL1 chr2 219259103 219284504 Gain and loss Pancreatic cancer SNP array 17952125 CTDSP1,MIR26B,SLC11A1,VIL1 chr22 19265501 19276500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLTCL1 chr22 19269028 19293327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLTCL1 chr22 19271783 19276505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLTCL1 chr22 19276501 19287000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLTCL1 chr2 219279442 219279548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19280623 19283839 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 219283842 219328383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP37,VIL1 chr2 219283842 219328383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP37,VIL1 chr22 19287001 19296500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 19296501 19318500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIRA chr2 219298137 219327409 Gain and loss Pancreatic cancer SNP array 17952125 USP37,VIL1 chr2 219310029 219310107 Gain and loss Pancreatic cancer SNP array 17952125 VIL1 chr22 19318501 19321000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIRA chr22 19321001 19423000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIRA,MRPL40 chr2 219321801 219321901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP37 chr22 19325389 19688875 Copy number Normal Quantitative Real-Time PCR 17666543 C22orf39,CDC45,CLDN5,HIRA,LOC150185,MRPL40,UFD1L chr22 19327927 19328205 Loss Normal 244K array 17666407 HIRA chr2 219328375 219349871 Gain and loss Pancreatic cancer SNP array 17952125 USP37 chr22 19337017 19339037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIRA chr22 19344754 19344802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HIRA chr22 19345798 19345839 Loss Normal 244K array 17666407 HIRA chr22 19346672 19349907 Gain and loss Pancreatic cancer SNP array 17952125 HIRA chr2 219349937 219353670 Gain and loss Pancreatic cancer SNP array 17952125 USP37 chr22 19351264 19358946 Duplication Autism quantitative PCR 19404257 HIRA chr22 19351880 19355374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIRA chr22 19351880 19355374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIRA chr22 19352115 19355374 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIRA chr2 219354093 219362286 Gain and loss Pancreatic cancer SNP array 17952125 USP37 chr2 219354745 219388254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP37 chr2 219354745 219388254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP37 chr2 219362314 219392939 Gain and loss Pancreatic cancer SNP array 17952125 USP37 chr22 19363919 19369607 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 HIRA chr2 219368775 219368954 Loss Normal 244K array 17666407 USP37 chr22 19369512 19373839 Gain and loss Pancreatic cancer SNP array 17952125 HIRA chr22 19373842 19376009 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 HIRA chr22 19374319 19375692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIRA chr22 19379956 19383445 Gain and loss Pancreatic cancer SNP array 17952125 HIRA chr22 19382250 19383222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIRA chr22 19382250 19383222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIRA chr22 19385402 19388889 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIRA chr22 19386545 19517555 Gain and loss Pancreatic cancer SNP array 17952125 C22orf39,CDC45,CLDN5,HIRA,MRPL40,UFD1L chr22 19391978 19543070 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 C22orf39,CDC45,CLDN5,HIRA,MRPL40,UFD1L chr22 19391979 19543070 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C22orf39,CDC45,CLDN5,HIRA,MRPL40,UFD1L chr22 19391981 19543070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C22orf39,CDC45,CLDN5,HIRA,MRPL40,UFD1L chr22 19391981 19543070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C22orf39,CDC45,CLDN5,HIRA,MRPL40,UFD1L chr2 219395349 219404756 Gain or loss Breast cancer - 20668451 USP37 chr2 219395349 219404756 Gain or loss Cancer - 20668451 USP37 chr2 219395349 219404756 Gain or loss Lung cancer - 20668451 USP37 chr2 219395349 219404756 Gain or loss Ovarian cancer - 20668451 USP37 chr2 219395349 219404756 Gain or loss Pancreas cancer - 20668451 USP37 chr2 219395349 219404756 Gain or loss Prostate cancer - 20668451 USP37 chr2 219395350 219404758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP37 chr2 219395350 219404758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP37 chr22 19405375 20797502 Deletion cardiac septal defect MLPA, array CGH 19239688 ARVCF,C22orf25,C22orf29,C22orf39,CDC45,CLDN5,COMT,DGCR6L,DGCR8,GNB1L,GP1BB,HIRA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MIR1286,MIR1306,MIR185,MIR3618,MIR4761,MRPL40,PI4KAP1,RANBP1,RIMBP3,RTN4R,SCARF2,SEPT5,SEPT5-GP1BB,TBX1,TMEM191B,TRMT2A,TXNRD2,UFD1L,ZDHHC8,ZNF74 chr22 19411955 19790808 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1178K arrays 21546498 C22orf39,CDC45,CLDN5,GNB1L,GP1BB,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,TBX1,UFD1L chr22 19412033 19790830 Amplification Mental retardation MLPA Pos 20877625 C22orf39,CDC45,CLDN5,GNB1L,GP1BB,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,TBX1,UFD1L chr22 19412033 19790830 Duplication cleft palate - 20877625 C22orf39,CDC45,CLDN5,GNB1L,GP1BB,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,TBX1,UFD1L chr22 19412033 19790830 Duplication Mental retardation - 20877625 C22orf39,CDC45,CLDN5,GNB1L,GP1BB,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,TBX1,UFD1L chr22 19412033 19790830 Duplication small stature - 20877625 C22orf39,CDC45,CLDN5,GNB1L,GP1BB,HIRA,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,TBX1,UFD1L chr22 19423001 19640500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C22orf39,CDC45,CLDN5,LOC150185,MRPL40,UFD1L chr2 219427802 219445641 Gain and loss Pancreatic cancer SNP array 17952125 RQCD1,USP37 chr2 219432244 219432344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP37 chr2 219432783 219447192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RQCD1,USP37 chr2 219432783 219447192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RQCD1,USP37 chr2 219432789 219447198 Gain or loss Breast cancer - 20668451 RQCD1,USP37 chr2 219432789 219447198 Gain or loss Cancer - 20668451 RQCD1,USP37 chr2 219432789 219447198 Gain or loss Lung cancer - 20668451 RQCD1,USP37 chr2 219432789 219447198 Gain or loss Ovarian cancer - 20668451 RQCD1,USP37 chr2 219432789 219447198 Gain or loss Pancreas cancer - 20668451 RQCD1,USP37 chr2 219432789 219447198 Gain or loss Prostate cancer - 20668451 RQCD1,USP37 chr2 219444001 219471500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RQCD1 chr22 19452941 19466562 Gain and loss Pancreatic cancer SNP array 17952125 UFD1L chr2 219453488 219466889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RQCD1 chr2 219453488 219466889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RQCD1 chr2 219453498 219466895 Copy number Lung cancer - 20668451 RQCD1 chr2 219453498 219466895 Gain or loss Breast cancer - 20668451 RQCD1 chr2 219453498 219466895 Gain or loss Cancer - 20668451 RQCD1 chr2 219453498 219466895 Gain or loss Lung cancer - 20668451 RQCD1 chr2 219453498 219466895 Gain or loss Ovarian cancer - 20668451 RQCD1 chr2 219453498 219466895 Gain or loss Pancreas cancer - 20668451 RQCD1 chr2 219453498 219466895 Gain or loss Prostate cancer - 20668451 RQCD1 chr22 19458383 19472008 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CDC45,UFD1L chr22 19458383 19472008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC45,UFD1L chr22 19458383 19472008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC45,UFD1L chr2 219472006 219505515 Gain and loss Pancreatic cancer SNP array 17952125 PLCD4,ZNF142 chr2 219489150 219489253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCD4 chr2 219500000 222200000 Duplication Craniosynostosis array CGH 21167467 ABCB6,ANKZF1,ASIC4,ATG9A,BCS1L,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CYP27A1,DES,DNAJB2,DNPEP,FAM134A,FEV,GLB1L,GMPPA,IHH,INHA,LINC00608,LOC100129175,MIR153-1,MIR3131,MIR3132,MIR375,MIR4268,NHEJ1,OBSL1,PLCD4,PRKAG3,PTPRN,RESP18,RNF25,SLC23A3,SLC4A3,SPEG,STK11IP,STK16,STK36,TMEM198,TTLL4,TUBA4A,TUBA4B,WNT10A,WNT6,ZFAND2B,ZNF142 chr2 219500000 222200000 Duplication Syndactyly array CGH 21167467 ABCB6,ANKZF1,ASIC4,ATG9A,BCS1L,CCDC108,CDK5R2,CHPF,CNPPD1,CRYBA2,CYP27A1,DES,DNAJB2,DNPEP,FAM134A,FEV,GLB1L,GMPPA,IHH,INHA,LINC00608,LOC100129175,MIR153-1,MIR3131,MIR3132,MIR375,MIR4268,NHEJ1,OBSL1,PLCD4,PRKAG3,PTPRN,RESP18,RNF25,SLC23A3,SLC4A3,SPEG,STK11IP,STK16,STK36,TMEM198,TTLL4,TUBA4A,TUBA4B,WNT10A,WNT6,ZFAND2B,ZNF142 chr2 219512611 219522019 Gain and loss Pancreatic cancer SNP array 17952125 ZNF142 chr22 19528465 19607471 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC150185 chr2 219531275 220044252 LOH Normal High-resolution SNP genotyping 21211785 CCDC108,CDK5R2,CNPPD1,CRYBA2,CYP27A1,FAM134A,FEV,IHH,LINC00608,LOC100129175,MIR3131,MIR375,NHEJ1,PRKAG3,RNF25,SLC23A3,STK36,TTLL4,WNT10A,WNT6 chr2 219531275 220053583 LOH Normal High-resolution SNP genotyping 21211785 CCDC108,CDK5R2,CNPPD1,CRYBA2,CYP27A1,FAM134A,FEV,IHH,LINC00608,LOC100129175,MIR3131,MIR375,NHEJ1,PRKAG3,RNF25,SLC23A3,STK36,TTLL4,WNT10A,WNT6 chr2 219532642 219535120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF25 chr2 219532642 219535120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF25 chr22 19537846 19568663 Gain and loss Pancreatic cancer SNP array 17952125 LOC150185 chr22 19538297 19939137 Gain Anaplastic thyroid cancer 33K microarrays 18753363 C22orf29,COMT,GNB1L,GP1BB,LOC150185,SEPT5,SEPT5-GP1BB,TBX1,TXNRD2 chr22 19543291 19574109 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 LOC150185 chr22 19543292 19574109 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC150185 chr22 19543292 19574109 Copy number Autism exome sequencing 22495311 LOC150185 chr22 19543292 19574109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC150185 chr22 19543292 19574109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC150185 chr2 219550051 219564456 Gain and loss Pancreatic cancer SNP array 17952125 STK36 chr2 219554001 219557000 Copy number Normal ReadDepth: A Parallel R Package 21305028 STK36 chr2 219554052 219558623 Gain or loss Breast cancer - 20668451 STK36 chr2 219554052 219558623 Gain or loss Cancer - 20668451 STK36 chr2 219554052 219558623 Gain or loss Lung cancer - 20668451 STK36 chr2 219554052 219558623 Gain or loss Ovarian cancer - 20668451 STK36 chr2 219554052 219558623 Gain or loss Pancreas cancer - 20668451 STK36 chr2 219554052 219558623 Gain or loss Prostate cancer - 20668451 STK36 chr2 219554053 219558623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK36 chr2 219554053 219558623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK36 chr2 219557001 219627500 Copy number Normal ReadDepth: A Parallel R Package 21305028 STK36,TTLL4 chr2 219559922 219559967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK36 chr2 219563156 219566371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK36 chr2 219563156 219566371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK36 chr2 219570760 219584156 Gain and loss Pancreatic cancer SNP array 17952125 TTLL4 chr2 219574611 219574674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219575820 219614489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTLL4 chr2 219575820 219614489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTLL4 chr2 219576594 219576694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTLL4 chr2 219576597 219576811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTLL4 chr22 19596268 19632588 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19599809 31293977 Triplication Acute myeloid leukemia - 21251322 ADORA2A,ADRBK2,AIFM3,AP1B1,ARVCF,ASCC2,ASPHD2,BCR,BCRP2,BCRP3,C22orf13,C22orf15,C22orf25,C22orf29,C22orf31,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CES5AP1,CHCHD10,CHEK2,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,DGCR6L,DGCR8,DUSP18,EMID1,EWSR1,FAM211B,FBXW4P1,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HORMAD2,HPS4,HSCB,IGLL1,IGLL3P,IGLL5,KIAA1656,KIAA1671,KLHL22,KREMEN1,LIF,LOC100128531,LOC150197,LOC284865,LOC284889,LOC388849,LOC391322,LOC400891,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAPK1,MED15,MIAT,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR4761,MIR548J,MIR650,MMP11,MN1,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OSBP2,OSM,P2RX6,P2RX6P,PES1,PI4KA,PI4KAP1,PI4KAP2,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,RAB36,RANBP1,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF215,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SGSM1,SLC2A11,SLC35E4,SLC7A4,SMARCB1,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBC1D10A,TBX1,TCN2,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191A,TMEM191B,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TRMT2A,TTC28,TTC28-AS1,TUBA3FP,TXNRD2,UBE2L3,UPB1,UQCR10,VPREB1,VPREB3,XBP1,YDJC,YPEL1,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 19601714 19637884 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19601714 19637884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19601714 19637884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19605000 49560000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BCR,BCRP2,BCRP3,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR6L,DGCR8,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IGLL1,IGLL3P,IGLL5,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,PPARA,PPIL2,PPM1F,PRAME,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TRIOBP,TRMT2A,TRMU,TSPO,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUG1,TXN2,TXNRD2,UBE2L3,UPB1,UPK3A,UQCR10,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr2 219606414 219606513 Gain and loss Pancreatic cancer SNP array 17952125 TTLL4 chr2 219606414 219606514 Gain and loss Pancreatic cancer SNP array 17952125 TTLL4 chr22 19625487 19625556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19626200 19626265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 219627389 219633433 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 219627389 219633433 Gain or loss Cancer - 20668451 NOT_FOUND chr2 219627389 219633433 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 219627389 219633433 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 219627389 219633433 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 219627389 219633433 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 219627393 219633433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219627393 219633433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219627501 219634000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 19630933 19631002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219636982 219668501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP27A1 chr22 19637822 19642102 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19637822 19642102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219640023 219640306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 219640034 219640317 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 19640501 19650000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 19643245 19775287 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 GP1BB,SEPT5,SEPT5-GP1BB,TBX1 chr2 219643628 219644265 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19646097 19660203 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 219648283 219742953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP27A1,PRKAG3,WNT6 chr2 219648283 219742953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP27A1,PRKAG3,WNT6 chr2 219648289 219733831 Deletion Collie eye anomaly References 22138850 CYP27A1,PRKAG3,WNT6 chr22 19649434 19665649 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19649434 19665649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19649434 19665649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219649882 219652381 Gain and loss Pancreatic cancer SNP array 17952125 CYP27A1 chr22 19650001 19651500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 19651501 19675000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 19661210 19677879 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19666558 19683325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19666558 19683325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19666558 19683325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219671314 219675884 Gain and loss Pancreatic cancer SNP array 17952125 CYP27A1 chr22 19675001 19687000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 219675400 219675677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP27A1 chr2 219675400 219675681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP27A1 chr22 19678615 19680929 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 219680417 219683632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19681293 19681676 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19684063 19686404 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19684063 19686404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19684063 19686404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19686739 19687122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19687001 19710000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEPT5,SEPT5-GP1BB chr22 19687077 19692988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19688030 19690736 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19691622 19736068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GP1BB,SEPT5,SEPT5-GP1BB chr2 219691872 219691935 Gain and loss Pancreatic cancer SNP array 17952125 PRKAG3 chr22 19692523 19698434 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 219693081 219717988 Gain and loss Pancreatic cancer SNP array 17952125 PRKAG3 chr22 19693395 19698576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19694003 19707673 Gain and loss Pancreatic cancer SNP array 17952125 SEPT5,SEPT5-GP1BB chr22 19697944 19698002 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr22 19699316 19713119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GP1BB,SEPT5,SEPT5-GP1BB chr22 19699316 19713119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GP1BB,SEPT5,SEPT5-GP1BB chr22 19699449 19713119 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GP1BB,SEPT5,SEPT5-GP1BB chr22 19705321 20769032 LOH Normal High-resolution SNP genotyping 21211785 ARVCF,C22orf25,C22orf29,COMT,DGCR6L,DGCR8,GNB1L,GP1BB,LOC150197,LOC284865,LOC388849,LOC729444,MIR1286,MIR1306,MIR185,MIR3618,MIR4761,PI4KAP1,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,TBX1,TMEM191B,TRMT2A,TXNRD2,ZDHHC8,ZNF74 chr22 19707562 19710655 Gain and loss Pancreatic cancer SNP array 17952125 SEPT5,SEPT5-GP1BB chr22 19710001 19717500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GP1BB,SEPT5,SEPT5-GP1BB chr22 19713007 19716847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19713007 19716847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19713008 19716847 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19717501 20017750 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARVCF,C22orf25,C22orf29,COMT,GNB1L,MIR4761,TBX1,TXNRD2 chr2 219718398 219731750 Gain and loss Pancreatic cancer SNP array 17952125 WNT6 chr22 19718465 19718561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19726264 19731198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19726680 19728538 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 19726680 19728538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19726680 19728538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19730270 19746565 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBX1 chr22 19730270 19746565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBX1 chr22 19730270 19746565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX1 chr22 19732203 19739290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 219732501 219789000 Copy number Normal ReadDepth: A Parallel R Package 21305028 WNT10A,WNT6 chr2 219734425 219743030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT6 chr2 219734425 219743030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT6 chr22 19744303 19748877 Gain and loss Pancreatic cancer SNP array 17952125 TBX1 chr2 219744652 219750694 Gain and loss Pancreatic cancer SNP array 17952125 WNT10A chr2 219744864 219751072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT10A chr2 219744864 219751072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT10A chr22 19749749 19754386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBX1 chr2 219751198 219756456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT10A chr2 219751198 219756456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT10A chr2 219760351 219762572 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 219760568 219761157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 219761436 219762572 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 219765556 219861054 Gain and loss Pancreatic cancer SNP array 17952125 CDK5R2,CRYBA2,FEV,LINC00608 chr2 219769252 219898126 Copy number loss Normal High-resolution SNP genotyping 21211785 CCDC108,CDK5R2,CRYBA2,FEV,LINC00608,LOC100129175,MIR375 chr2 21977080 21986805 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 219779750 219782613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219779750 219782613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19781859 19800627 Gain and loss Pancreatic cancer SNP array 17952125 GNB1L chr2 219782738 219791917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219782738 219791917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19786712 19795854 Deletion Schizophrenia NimbleGen HD2 platform 21346763 GNB1L chr22 19787304 23379326 Gain or loss Breast cancer - 20668451 AIFM3,ARVCF,BCRP2,C22orf25,C22orf29,CCDC116,COMT,CRKL,DGCR6L,DGCR8,GGTLC2,GNB1L,HIC2,IGLL5,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3618,MIR4761,MIR650,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TRMT2A,TUBA3FP,TXNRD2,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8,ZNF280A,ZNF280B,ZNF74 chr22 19787304 23379326 Gain or loss Cancer - 20668451 AIFM3,ARVCF,BCRP2,C22orf25,C22orf29,CCDC116,COMT,CRKL,DGCR6L,DGCR8,GGTLC2,GNB1L,HIC2,IGLL5,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3618,MIR4761,MIR650,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TRMT2A,TUBA3FP,TXNRD2,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8,ZNF280A,ZNF280B,ZNF74 chr22 19787304 23379326 Gain or loss Lung cancer - 20668451 AIFM3,ARVCF,BCRP2,C22orf25,C22orf29,CCDC116,COMT,CRKL,DGCR6L,DGCR8,GGTLC2,GNB1L,HIC2,IGLL5,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3618,MIR4761,MIR650,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TRMT2A,TUBA3FP,TXNRD2,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8,ZNF280A,ZNF280B,ZNF74 chr22 19787304 23379326 Gain or loss Ovarian cancer - 20668451 AIFM3,ARVCF,BCRP2,C22orf25,C22orf29,CCDC116,COMT,CRKL,DGCR6L,DGCR8,GGTLC2,GNB1L,HIC2,IGLL5,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3618,MIR4761,MIR650,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TRMT2A,TUBA3FP,TXNRD2,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8,ZNF280A,ZNF280B,ZNF74 chr22 19787304 23379326 Gain or loss Pancreas cancer - 20668451 AIFM3,ARVCF,BCRP2,C22orf25,C22orf29,CCDC116,COMT,CRKL,DGCR6L,DGCR8,GGTLC2,GNB1L,HIC2,IGLL5,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3618,MIR4761,MIR650,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TRMT2A,TUBA3FP,TXNRD2,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8,ZNF280A,ZNF280B,ZNF74 chr22 19787304 23379326 Gain or loss Prostate cancer - 20668451 AIFM3,ARVCF,BCRP2,C22orf25,C22orf29,CCDC116,COMT,CRKL,DGCR6L,DGCR8,GGTLC2,GNB1L,HIC2,IGLL5,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3618,MIR4761,MIR650,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L1P,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TRMT2A,TUBA3FP,TXNRD2,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8,ZNF280A,ZNF280B,ZNF74 chr22 19787305 19806073 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GNB1L chr22 19787305 19806073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNB1L chr22 19787305 19806073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNB1L chr2 219789001 219876000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC108,CDK5R2,CRYBA2,FEV,LINC00608,LOC100129175,MIR375 chr22 19790707 20175282 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ARVCF,C22orf25,C22orf29,COMT,DGCR8,GNB1L,LOC388849,MIR1306,MIR185,MIR3618,MIR4761,RANBP1,TRMT2A,TXNRD2,ZDHHC8 chr2 219792348 219802636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219792348 219802636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19792571 20175282 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARVCF,C22orf25,C22orf29,COMT,DGCR8,GNB1L,LOC388849,MIR1306,MIR185,MIR3618,MIR4761,RANBP1,TRMT2A,TXNRD2,ZDHHC8 chr2 219792661 219792938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19794051 20040977 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ARVCF,C22orf25,C22orf29,COMT,GNB1L,MIR185,MIR4761,TXNRD2 chr2 219796989 219797071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19798189 19798250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNB1L chr22 19800111 19803751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNB1L chr22 19801570 19805840 Gain and loss Pancreatic cancer SNP array 17952125 GNB1L chr2 219802723 219809635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219802723 219809635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219806773 219807750 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 219809572 219818438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219809572 219818438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19809949 19812352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNB1L chr2 219818421 219823303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219818421 219823303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219822677 219827574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDK5R2 chr2 219822677 219827574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDK5R2 chr2 219824205 219824305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 19825913 19826660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNB1L chr22 19835358 20440240 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ARVCF,C22orf25,C22orf29,COMT,DGCR6L,DGCR8,GNB1L,LOC150197,LOC284865,LOC388849,LOC729444,MIR1286,MIR1306,MIR185,MIR3618,MIR4761,PI4KAP1,RANBP1,RTN4R,TMEM191B,TRMT2A,TXNRD2,ZDHHC8 chr2 219839190 219845154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00608 chr2 219839190 219845154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00608 chr22 19839192 20024381 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 ARVCF,C22orf25,C22orf29,COMT,GNB1L,MIR185,MIR4761,TXNRD2 chr22 1 98500000 Gain Myofibroblastic sarcoma CGH 19369631 A4GALT,ACO2,ACR,ADM2,ADORA2A,ADRBK2,ADSL,AIFM3,ALG12,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,BRD1,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf34,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CHKB,CHKB-CPT1B,CLDN5,CLTCL1,CN5H6.4,COMT,CPT1B,CRELD2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HDAC10,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHDC7B,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC284933,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC90834,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIOX,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MMP11,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PPP6R2,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RABL2B,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SBF1,SCARF2,SCO2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRABD,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUBGCP6,TUG1,TXN2,TXNRD2,TYMP,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZBED4,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 19851472 19851594 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 219852284 219861207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRYBA2 chr2 219852284 219861207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYBA2 chr2 219862125 219868237 Gain and loss Pancreatic cancer SNP array 17952125 CCDC108,LOC100129175,MIR375 chr2 219862589 219882464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC108,LOC100129175,MIR375 chr2 219862589 219882464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC108,LOC100129175,MIR375 chr2 219863698 219892126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC108,LOC100129175,MIR375 chr2 219867077 219867166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100129175 chr2 219868459 219873717 Gain and loss Pancreatic cancer SNP array 17952125 CCDC108,LOC100129175 chr2 219876001 219990000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC108,IHH,LOC100129175,MIR3131,NHEJ1 chr2 219877744 219879620 Loss Normal 244K array 17666407 CCDC108,LOC100129175 chr2 219879309 219884716 Loss Normal 244K array 17666407 CCDC108,LOC100129175 chr22 19883139 19883219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TXNRD2 chr22 19886981 19888377 Gain and loss Pancreatic cancer SNP array 17952125 TXNRD2 chr22 19892261 19911926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TXNRD2 chr22 19892261 19911926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TXNRD2 chr22 19892294 19910582 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TXNRD2 chr2 219897043 219899878 Gain and loss Pancreatic cancer SNP array 17952125 CCDC108 chr2 219899999 219909178 Gain and loss Pancreatic cancer SNP array 17952125 CCDC108 chr2 219900375 219906143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC108 chr2 219900375 219906143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC108 chr22 19904236 19904397 Gain and loss Pancreatic cancer SNP array 17952125 TXNRD2 chr2 219909607 219919856 Gain and loss Pancreatic cancer SNP array 17952125 IHH chr2 219910420 219910520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 219920047 219926876 Gain and loss Pancreatic cancer SNP array 17952125 IHH,MIR3131 chr2 219926594 219926694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 219926838 219935656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 219931836 219931949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 219935727 219939133 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 19937072 20175282 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARVCF,C22orf25,COMT,DGCR8,LOC388849,MIR1306,MIR185,MIR3618,MIR4761,RANBP1,TRMT2A,ZDHHC8 chr2 219938801 219943200 Deletion Glioma mate-paired sequence 20126413 NHEJ1 chr2 219939938 219944143 Gain and loss Pancreatic cancer SNP array 17952125 NHEJ1 chr2 219943470 219962415 Gain and loss Pancreatic cancer SNP array 17952125 NHEJ1 chr2 219946424 219961842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NHEJ1 chr2 219946424 219961842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NHEJ1 chr22 19947477 19947542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COMT chr22 19952450 19953192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMT chr22 19962363 19966631 Gain and loss Pancreatic cancer SNP array 17952125 ARVCF chr22 19967073 19971269 Gain and loss Pancreatic cancer SNP array 17952125 ARVCF chr22 19967170 19968450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARVCF chr2 219969603 219994210 Gain and loss Pancreatic cancer SNP array 17952125 NHEJ1 chr22 19972235 19973676 Gain and loss Pancreatic cancer SNP array 17952125 ARVCF chr22 19972519 19976715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARVCF chr22 19972519 19976715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARVCF chr22 19975342 19978982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARVCF chr22 19979836 20003701 Gain and loss Pancreatic cancer SNP array 17952125 ARVCF chr2 219979852 219999648 Gain and loss Pancreatic cancer SNP array 17952125 NHEJ1 chr22 19982684 19982743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARVCF chr2 219984338 219984427 Gain and loss Pancreatic cancer SNP array 17952125 NHEJ1 chr2 219990001 220149000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABCB6,ANKZF1,ATG9A,CNPPD1,DNAJB2,FAM134A,GLB1L,NHEJ1,SLC23A3,STK16,TUBA4A,TUBA4B,ZFAND2B chr2 219991343 219999703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NHEJ1 chr2 219991343 219999703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NHEJ1 chr22 19993055 19993732 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARVCF chr22 19993055 19993732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARVCF chr2 21999370 21999666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 19995901 20007469 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARVCF chr22 19995901 20007469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARVCF chr2 220002388 220260058 Copy number Lung cancer paired-end sequencing 18438408 ABCB6,ANKZF1,ATG9A,CNPPD1,DNAJB2,DNPEP,FAM134A,GLB1L,MIR153-1,NHEJ1,PTPRN,RESP18,SLC23A3,STK16,TUBA4A,TUBA4B,ZFAND2B chr2 220007812 220066598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNPPD1,FAM134A,NHEJ1,SLC23A3 chr2 220007812 220066598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNPPD1,FAM134A,NHEJ1,SLC23A3 chr2 220017740 220022856 Gain and loss Pancreatic cancer SNP array 17952125 NHEJ1 chr22 20017751 20131500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C22orf25,DGCR8,MIR1306,MIR185,MIR3618,RANBP1,TRMT2A,ZDHHC8 chr22 20025884 20029531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C22orf25 chr2 220029860 220029927 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SLC23A3 chr2 220029860 220029927 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 SLC23A3 chr2 220030883 220112758 Copy number loss Normal High-resolution SNP genotyping 21211785 ABCB6,ANKZF1,ATG9A,CNPPD1,FAM134A,GLB1L,SLC23A3,STK16,ZFAND2B chr22 20035111 20037676 Gain and loss Pancreatic cancer SNP array 17952125 C22orf25 chr2 220048347 220052813 Amplification or deletion Cancer Array CGH 17440070 FAM134A chr22 20051591 20175282 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C22orf25,DGCR8,LOC388849,MIR1306,MIR3618,RANBP1,TRMT2A,ZDHHC8 chr22 20051591 20247311 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf25,DGCR8,LOC150197,LOC284865,LOC388849,MIR1286,MIR1306,MIR3618,RANBP1,RTN4R,TRMT2A,ZDHHC8 chr22 20054353 20056234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20055998 20175294 Copy number Normal Birdsuite, version 1.5.2 22087296 DGCR8,LOC388849,MIR1306,MIR3618,RANBP1,TRMT2A,ZDHHC8 chr22 20055998 20175294 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DGCR8,LOC388849,MIR1306,MIR3618,RANBP1,TRMT2A,ZDHHC8 chr22 20055998 20175294 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DGCR8,LOC388849,MIR1306,MIR3618,RANBP1,TRMT2A,ZDHHC8 chr2 220056842 220056916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 20058126 20175282 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DGCR8,LOC388849,MIR1306,MIR3618,RANBP1,TRMT2A,ZDHHC8 chr22 20058343 20058540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20062847 20068321 Gain and loss Pancreatic cancer SNP array 17952125 DGCR8 chr2 220063773 220078977 Gain and loss Pancreatic cancer SNP array 17952125 ABCB6,ZFAND2B chr22 20063789 20063986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20068034 20068271 Gain and loss Pancreatic cancer SNP array 17952125 DGCR8 chr22 20068034 20068364 Gain and loss Pancreatic cancer SNP array 17952125 DGCR8 chr22 20068293 20073767 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGCR8,MIR1306,MIR3618 chr22 20068293 20073767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR8,MIR1306,MIR3618 chr22 20068471 20068553 Gain and loss Pancreatic cancer SNP array 17952125 DGCR8 chr22 20068472 20068551 Gain and loss Pancreatic cancer SNP array 17952125 DGCR8 chr22 20068639 20068781 Gain and loss Pancreatic cancer SNP array 17952125 DGCR8 chr2 220071854 220079954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCB6,ZFAND2B chr2 220071854 220079954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCB6,ZFAND2B chr22 20073480 20073780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR8,MIR1306 chr22 20073917 20073999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR8 chr22 20074085 20074227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR8 chr2 220087296 220111730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKZF1,ATG9A,GLB1L,STK16 chr2 220087296 220111730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKZF1,ATG9A,GLB1L,STK16 chr22 20096247 20130302 Gain and loss Pancreatic cancer SNP array 17952125 DGCR8,RANBP1,TRMT2A,ZDHHC8 chr22 20101693 20135748 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RANBP1,TRMT2A,ZDHHC8 chr22 20101693 20135752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RANBP1,TRMT2A,ZDHHC8 chr22 20101693 20135752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RANBP1,TRMT2A,ZDHHC8 chr22 20104390 20104505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRMT2A chr2 22010521 22010606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 220108690 220116959 Gain and loss Pancreatic cancer SNP array 17952125 GLB1L,STK16,TUBA4A chr2 220111922 220116682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STK16,TUBA4A chr2 220111922 220116682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK16,TUBA4A chr2 220116629 220123559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUBA4A,TUBA4B chr2 220116629 220123559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBA4A,TUBA4B chr2 220123708 220144430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJB2,TUBA4B chr2 220123708 220144430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJB2,TUBA4B chr22 20126953 20126993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZDHHC8 chr22 20131501 20151500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC388849,ZDHHC8 chr2 220133901 220157088 Gain and loss Pancreatic cancer SNP array 17952125 DNAJB2,PTPRN,TUBA4B chr22 20136401 20175282 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC388849 chr22 20136401 21243667 Loss Developmental delay affymetrix genechip 500K/SNP 6.82 array 21147756 DGCR6L,KLHL22,LOC150197,LOC284865,LOC388849,LOC729444,MED15,MIR1286,PI4KA,PI4KAP1,POM121L4P,RIMBP3,RTN4R,SCARF2,SERPIND1,SNAP29,TMEM191A,TMEM191B,ZNF74 chr22 20136401 21994431 Loss Developmental delay affymetrix genechip 500K/SNP 6.85 array 21147756 AIFM3,BCRP2,CCDC116,CRKL,DGCR6L,HIC2,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MED15,MIR1286,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TUBA3FP,UBE2L3,YDJC,ZNF74 chr22 20136401 22912041 Gain Developmental delay affymetrix genechip 500K/SNP 6.83 array 21147756 AIFM3,BCRP2,CCDC116,CRKL,DGCR6L,HIC2,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MIR1286,MIR130B,MIR301B,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TUBA3FP,UBE2L3,VPREB1,YDJC,YPEL1,ZNF280A,ZNF280B,ZNF74 chr22 20136401 22960093 Loss Developmental delay affymetrix genechip 500K/SNP 6.84 array 21147756 AIFM3,BCRP2,CCDC116,CRKL,DGCR6L,HIC2,KLHL22,LOC150197,LOC284865,LOC388849,LOC400891,LOC648691,LOC729444,LOC96610,LZTR1,MAPK1,MED15,MIR1286,MIR130B,MIR301B,P2RX6,P2RX6P,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,PPIL2,PPM1F,PRAME,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TUBA3FP,UBE2L3,VPREB1,YDJC,YPEL1,ZNF280A,ZNF280B,ZNF74 chr2 220138848 220138922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 220145198 220148671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJB2 chr2 220145198 220148671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJB2 chr2 220149001 220200000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAJB2,MIR153-1,PTPRN,RESP18 chr22 20151501 20239250 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC150197,LOC284865,MIR1286,RTN4R chr22 20151843 20170923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20153437 20155558 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 20153437 20155558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20157287 20201780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC150197,LOC284865 chr22 20157287 20201780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC150197,LOC284865 chr22 20157289 20201780 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC150197,LOC284865 chr2 220157463 220183855 Gain and loss Pancreatic cancer SNP array 17952125 MIR153-1,PTPRN chr2 220160145 220480390 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASIC4,CHPF,DES,DNPEP,GMPPA,INHA,MIR3132,OBSL1,PTPRN,RESP18,SPEG,STK11IP,TMEM198 chr2 220163632 220163950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRN chr2 220170840 220189417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPRN chr2 220170840 220189417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPRN chr2 220183262 220183357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 220185901 220742500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASIC4,CHPF,DES,DNPEP,GMPPA,INHA,MIR3132,OBSL1,RESP18,SLC4A3,SPEG,STK11IP,TMEM198 chr2 220186591 220188089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 220188060 220188060 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr2 220189118 220197215 Gain and loss Pancreatic cancer SNP array 17952125 RESP18 chr2 220200001 220214000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 220200360 220214946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220200360 220214946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20202583 20202667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 220204557 220228991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20210008 20210108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 20223740 20223882 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20223968 20224050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20223970 20224049 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20224157 20224487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20224250 20224487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20224900 20228403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 220229175 220234001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20229186 20229328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4R chr22 20229414 20229496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4R chr22 20229633 20229933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4R chr22 20229646 20235120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN4R chr22 20229646 20235120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4R chr22 20230346 20234983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RTN4R chr2 220233890 220240806 Gain and loss Pancreatic cancer SNP array 17952125 DNPEP chr22 20233985 20234182 Gain and loss Pancreatic cancer SNP array 17952125 RTN4R chr22 20239251 20308000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DGCR6L,RTN4R chr22 20239431 20239628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4R chr2 220240956 220261518 Gain and loss Pancreatic cancer SNP array 17952125 DNPEP chr2 220243392 221337878 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASIC4,CHPF,DES,DNPEP,GMPPA,INHA,MIR3132,MIR4268,OBSL1,SLC4A3,SPEG,STK11IP,TMEM198 chr22 20246511 20302877 Gain and loss Pancreatic cancer SNP array 17952125 DGCR6L,RTN4R chr22 20247190 20277644 Loss Autism qPCR 20531469 RTN4R chr22 20251957 20308323 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DGCR6L,RTN4R chr22 20252023 20306575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGCR6L,RTN4R chr2 220256996 220257761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220258486 220258976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220262459 220265932 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 220270765 220271180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220274391 224394136 Copy number Lung cancer paired-end sequencing 18438408 ACSL3,ASIC4,CCDC140,CHPF,DES,EPHA4,FARSB,GMPPA,INHA,KCNE4,MIR3132,MIR4268,MOGAT1,OBSL1,PAX3,SGPP2,SLC4A3,SPEG,STK11IP,TMEM198 chr2 220280896 220281211 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 220280973 220281211 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 220288101 220306677 Gain and loss Pancreatic cancer SNP array 17952125 DES,SPEG chr22 20289397 20719548 Gain Prostate cancer Array CGH 18632612 DGCR6L,LOC729444,PI4KAP1,RIMBP3,TMEM191B chr22 20306935 20308886 Gain and loss Pancreatic cancer SNP array 17952125 DGCR6L chr22 20308001 20383500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC729444,TMEM191B chr2 220310575 220310675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPEG chr22 20311640 20316169 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20312249 21484582 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AIFM3,BCRP2,CRKL,KLHL22,LOC400891,LOC729444,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,PI4KAP1,POM121L4P,RIMBP3,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TUBA3FP,ZNF74 chr22 20312381 20314340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20312381 20314340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20312381 20314435 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 20317086 20321615 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 20317086 20321615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20317086 20321615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220317790 220332197 Gain and loss Pancreatic cancer SNP array 17952125 SPEG chr22 20321129 20323142 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20323398 20349250 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC729444 chr22 20326542 20328588 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC729444 chr22 20326542 20328588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC729444 chr22 20326542 20328588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729444 chr2 220331312 220331410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPEG chr22 20332147 20332228 Gain and loss Pancreatic cancer SNP array 17952125 LOC729444 chr22 20337270 20337347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729444 chr22 20337593 20337674 Amplification Acute myeloid leukemia BAC aCGH 20962326 LOC729444 chr22 20337593 20337674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729444 chr22 20344883 20377102 Gain and loss Pancreatic cancer SNP array 17952125 LOC729444 chr22 20350273 20382565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC729444,TMEM191B chr22 20350273 20382565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC729444,TMEM191B chr22 20350276 20382159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC729444,TMEM191B chr22 20352005 21702142 Copy number Type 2 diabetes ILLumia HumanHap310 BeadChip 21526130 AIFM3,BCRP2,CRKL,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,PI4KAP1,POM121L4P,POM121L8P,RIMBP3,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TUBA3FP,ZNF74 chr2 220355418 220355513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPEG chr2 220368318 220391213 Gain and loss Pancreatic cancer SNP array 17952125 ASIC4,GMPPA chr2 220375747 220376237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20376382 20414625 Gain and loss Pancreatic cancer SNP array 17952125 PI4KAP1,TMEM191B chr22 20381828 20420071 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PI4KAP1 chr22 20381828 20420071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4KAP1 chr22 20381828 20420071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KAP1 chr22 20383501 20440000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PI4KAP1 chr22 20401744 20402005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20407172 20407471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20407190 20407451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220420666 220420765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OBSL1 chr2 220426808 220426896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OBSL1 chr2 220434834 220434866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OBSL1 chr22 20438590 20844621 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 KLHL22,RIMBP3,SCARF2,ZNF74 chr2 220440000 221600000 Loss Breast cancer aCGH 21509527 INHA,MIR4268,SLC4A3,STK11IP chr22 20441427 20546284 Gain and loss Pancreatic cancer SNP array 17952125 RIMBP3 chr22 20443946 20551970 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RIMBP3 chr22 20443946 20551970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RIMBP3 chr22 20443946 20551970 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 RIMBP3 chr22 20443946 20551970 Gain or loss Breast cancer - 20668451 RIMBP3 chr22 20443946 20551970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RIMBP3 chr22 20443946 20551970 Gain or loss Cancer - 20668451 RIMBP3 chr22 20443946 20551970 Gain or loss Lung cancer - 20668451 RIMBP3 chr22 20443946 20551970 Gain or loss Ovarian cancer - 20668451 RIMBP3 chr22 20443946 20551970 Gain or loss Pancreas cancer - 20668451 RIMBP3 chr22 20443946 20551970 Gain or loss Prostate cancer - 20668451 RIMBP3 chr22 20445848 22026229 Deletion Normal - 21701786 AIFM3,BCRP2,CCDC116,CRKL,HIC2,KLHL22,LOC400891,LZTR1,MED15,MIR130B,MIR301B,P2RX6,P2RX6P,PI4KA,PI4KAP2,POM121L4P,POM121L8P,PPIL2,RIMBP3,RIMBP3B,RIMBP3C,SCARF2,SDF2L1,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191C,TUBA3FP,UBE2L3,YDJC,ZNF74 chr2 220456407 220456474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 20459690 20491059 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RIMBP3 chr2 220470107 220470207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STK11IP chr22 20471279 20471364 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20471280 20471379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20475101 21769756 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AIFM3,BCRP2,CRKL,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20476723 20476827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20500000 21800000 Amplification Normal Refference 21823210 AIFM3,BCRP2,CRKL,HIC2,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20500000 21800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIFM3,BCRP2,CRKL,HIC2,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20500000 21800000 Gain Schizophrenia Affymetrix 6.0 array 21399695 AIFM3,BCRP2,CRKL,HIC2,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20500000 21800000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 AIFM3,BCRP2,CRKL,HIC2,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20500000 21800000 Loss Prader-willi syndrome SignatureChip OS2.0 manufactured for Signature Genomic Laboratories 20588305 AIFM3,BCRP2,CRKL,HIC2,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20500000 21800000 Loss T-cell acute lymphoblastic leukemia oligo HemeScan analysis 21980252 AIFM3,BCRP2,CRKL,HIC2,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20500000 21800000 Microduplications 22q11.22 microdeletion syndrome array CGH 19193630 AIFM3,BCRP2,CRKL,HIC2,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr2 220513493 220513583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 220513842 220533238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 20517661 21169423 Deletion Cancer Affymetrix 250K Sty array 20164920 KLHL22,MED15,PI4KA,POM121L4P,SCARF2,SERPIND1,TMEM191A,ZNF74 chr22 20525075 20535611 Loss Developmental delay affymetrix genechip 500K/SNP 6.86 array 21147756 NOT_FOUND chr22 20531501 20532500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 20535099 20535386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20540545 20540832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220549341 220549441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 20551001 20552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 20567751 20570000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 20569621 20570012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22057517 22057812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20594178 20625724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 20598347 20631771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20600001 20639250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 20603793 20637217 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 20603793 20637217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20603793 20637217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20619657 20733158 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 NOT_FOUND chr22 20619657 20733158 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 20635958 20661741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20639133 20891172 Allelic imbalance Normal High-resolution SNP genotyping 21211785 KLHL22,MED15,SCARF2,ZNF74 chr22 20639133 20891172 Copy number gain Normal High-resolution SNP genotyping 21211785 KLHL22,MED15,SCARF2,ZNF74 chr22 20639251 20649500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 20641397 20667213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20641397 20667213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20641404 20667213 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 2064156 21298606 Duplication Autism Array CGH 22102821 ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BID,C22orf25,C22orf29,C22orf39,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIRA,HSFY1P1,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MED15,MICAL3,MIR1286,MIR1306,MIR185,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,PEX26,PI4KA,PI4KAP1,POM121L4P,POTEH,PRODH,RANBP1,RIMBP3,RTN4R,SCARF2,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SNAP29,TBX1,TMEM191A,TMEM191B,TPTEP1,TRMT2A,TSSK2,TUBA8,TXNRD2,UFD1L,USP18,XKR3,ZDHHC8,ZNF74 chr22 20642729 20909235 Copy number loss Normal High-resolution SNP genotyping 21211785 KLHL22,MED15,SCARF2,ZNF74 chr22 20645089 20663218 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 220645317 220690422 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 20645971 20906383 Copy number loss Normal High-resolution SNP genotyping 21211785 KLHL22,MED15,SCARF2,ZNF74 chr22 20645971 20909235 Copy number loss Normal High-resolution SNP genotyping 21211785 KLHL22,MED15,SCARF2,ZNF74 chr22 20649501 20799500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL22,SCARF2,ZNF74 chr2 220654554 220654831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 20660000 20920000 Duplication Schizophrenia BAC array CGH 17989066 KLHL22,MED15,SCARF2,ZNF74 chr22 20663218 20903987 Gain Normal Birdsuite, version 1.5.2 22087296 KLHL22,MED15,SCARF2,ZNF74 chr22 20670051 20722886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20675497 20728332 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 20675497 20728332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20675497 20728332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20693407 20733158 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 NOT_FOUND chr22 20693407 20733158 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 20700416 21568320 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AIFM3,BCRP2,CRKL,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20703453 21575735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AIFM3,BCRP2,CRKL,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20705022 20778171 Gain and loss Pancreatic cancer SNP array 17952125 ZNF74 chr22 20710474 20710991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20711019 21578950 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AIFM3,BCRP2,CRKL,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20711595 20712332 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 220711698 220711798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 20711823 20716433 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr22 20712096 20712332 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 20712112 20712332 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 220713082 220713172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 20715392 20715870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20716434 20833257 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 KLHL22,SCARF2,ZNF74 chr22 20716434 20902481 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 KLHL22,MED15,SCARF2,ZNF74 chr22 20716438 20721593 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 20717143 20717592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20723042 20723525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20728016 20728340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20730828 20730989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20737528 20737847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20742845 20743304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20745489 20745950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20746917 20749015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF74 chr22 20748738 20748794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF74 chr2 220754325 220754447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 20754636 20755118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF74 chr22 20756140 21547277 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AIFM3,BCRP2,CRKL,KLHL22,LOC400891,LZTR1,MED15,P2RX6,P2RX6P,PI4KA,POM121L4P,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP,ZNF74 chr22 20759777 20760077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF74 chr22 20764180 20764673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220764843 220764921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 220766209 220767832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 220767354 220767454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 20770289 20770448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 20770972 20771521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20773299 20773368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 20783171 20783622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCARF2 chr22 20783171 20783622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCARF2 chr22 20783535 20935345 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KLHL22,MED15,SCARF2 chr22 20783535 21065522 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KLHL22,MED15,PI4KA,POM121L4P,SCARF2,TMEM191A chr22 20783541 21027290 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 KLHL22,MED15,SCARF2 chr22 20783541 21027290 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 KLHL22,MED15,SCARF2 chr22 20783598 20798996 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KLHL22,SCARF2 chr22 20783598 20880884 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KLHL22,MED15,SCARF2 chr22 20787629 20789267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCARF2 chr22 20796075 20796175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL22 chr22 20796428 20796928 Gain and loss Pancreatic cancer SNP array 17952125 KLHL22 chr22 20798384 20818226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLHL22 chr22 20798620 20811497 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KLHL22 chr22 20799236 20802374 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KLHL22 chr22 20799236 20802374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL22 chr22 20799501 20801500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL22 chr22 20802852 20812710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLHL22 chr22 20808501 20810500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL22 chr22 20810501 20905250 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL22,MED15 chr22 20815978 20816539 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 KLHL22 chr22 20839975 20840335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL22 chr22 20841775 20842024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL22 chr22 20846591 20847074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL22 chr22 20852682 20853027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20854251 20854337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 20855369 20855942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 20861656 20861705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 20863618 20863867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20866972 20867275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20870331 20871009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20874730 20875413 Gain and loss Pancreatic cancer SNP array 17952125 MED15 chr22 20880199 20880676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20882960 20883411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20886069 20886555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr2 220895911 221794575 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr22 20899197 20899661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20904039 20904525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20905251 20909000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MED15 chr22 20907580 20908959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20909001 20951500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MED15 chr22 20923754 20924480 Deletion T-cell lymphomas Array-CGH 22341440 MED15 chr22 20923754 20924480 Gain and loss Pancreatic cancer SNP array 17952125 MED15 chr22 20929192 20929926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20929192 20929926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED15 chr22 20929199 20929926 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 MED15 chr22 20929200 20929926 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MED15 chr22 20931862 20931962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED15 chr22 20951501 20953000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 20953001 21300750 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRKL,PI4KA,POM121L4P,SERPIND1,SNAP29,TMEM191A chr22 20982462 21007324 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr22 20986025 20987642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20989290 21000229 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 20991471 20993088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 20991471 20993088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21001418 21001874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 21001862 21080890 Gain Normal 244K array 17666407 PI4KA,POM121L4P,TMEM191A chr22 21003021 21003581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21004565 21348565 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 AIFM3,CRKL,LZTR1,PI4KA,POM121L4P,SERPIND1,SNAP29,TMEM191A chr22 21006864 21007325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21010918 21115308 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA,POM121L4P,TMEM191A chr22 21011312 21394287 Loss Normal Illumina 300K SNP 19997636 AIFM3,CRKL,LZTR1,P2RX6,PI4KA,POM121L4P,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP chr22 21011709 21012174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21017554 21583082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,POM121L4P,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP chr22 21020734 21103188 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA,POM121L4P,TMEM191A chr22 21022103 21022638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 21023926 21025567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21025115 21046958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POM121L4P chr22 21027245 21029096 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 21027576 21028086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21028552 21124082 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA,POM121L4P,TMEM191A chr22 21029096 21082102 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PI4KA,POM121L4P,TMEM191A chr22 21032157 21032514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21034499 21060069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 POM121L4P,TMEM191A chr22 21035997 21082868 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA,POM121L4P,TMEM191A chr22 21036869 21037162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 21037289 21037781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21038408 21552121 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,POM121L4P,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP chr22 21042143 21042610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21043189 21860252 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AIFM3,BCRP2,CRKL,HIC2,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,PI4KAP2,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191C,TUBA3FP chr22 21043189 21860252 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 AIFM3,BCRP2,CRKL,HIC2,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,PI4KAP2,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TMEM191C,TUBA3FP chr22 21044595 21570697 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,POM121L4P,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP chr22 21044595 21570697 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,POM121L4P,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP chr2 221049948 221050057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21050578 21052138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21052883 21053586 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 221052901 221056400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr22 21053688 21546762 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TMEM191A,TUBA3FP chr22 21054016 21054455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 221054170 221054497 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 221055066 221055166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21055117 21055425 Gain and loss Pancreatic cancer SNP array 17952125 TMEM191A chr22 21055197 21055488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM191A chr22 21059134 21124082 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA chr22 21059975 21060271 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 21060381 21079973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21060383 21060874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21065249 21065716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21070307 21082868 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA chr22 21070307 21115308 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA chr22 21070307 21124082 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA chr22 21070317 21593274 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21070317 21659250 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,POM121L8P,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21073944 21074378 Gain and loss Pancreatic cancer SNP array 17952125 PI4KA chr22 21074439 21087339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21076491 21078595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21079390 21079827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21079533 21115308 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PI4KA chr22 21079990 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21081369 21081861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21082075 21084304 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PI4KA chr22 21082680 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21083184 21083334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21084304 21559204 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21087309 21581602 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21088539 21089053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21088671 21573524 Gain and loss Pancreatic cancer SNP array 17952125 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21094149 21094614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21096341 21578699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr2 221096696 221119614 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 21099923 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21103188 21276825 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CRKL,PI4KA,SERPIND1,SNAP29 chr22 21104663 21105647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21110158 21110651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21111881 21112371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21116336 21116803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21118376 21118466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PI4KA chr22 21124094 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21127641 21512863 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21130255 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21131024 21132674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA,SERPIND1 chr22 21134540 21134990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA,SERPIND1 chr22 21135918 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21138988 21551112 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SERPIND1,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr2 221142232 221142312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21145014 21199944 Copy number gain Normal High-resolution SNP genotyping 21211785 PI4KA chr22 21145014 21203769 Copy number gain Normal High-resolution SNP genotyping 21211785 PI4KA chr22 21145014 21220547 Copy number gain Normal High-resolution SNP genotyping 21211785 PI4KA,SNAP29 chr22 21149996 21150323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21157758 21199944 Copy number gain Normal High-resolution SNP genotyping 21211785 PI4KA chr22 21157758 21203769 Copy number gain Normal High-resolution SNP genotyping 21211785 PI4KA chr22 21157758 21211932 Copy number gain Normal High-resolution SNP genotyping 21211785 PI4KA chr22 21162495 21219984 Copy number gain Normal High-resolution SNP genotyping 21211785 PI4KA,SNAP29 chr22 21163773 21168347 Gain and loss Pancreatic cancer SNP array 17952125 PI4KA chr2 221165066 221166044 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 21168767 21193505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21168767 21193505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21168774 21193505 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PI4KA chr22 21169424 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21174548 21274548 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 CRKL,PI4KA,SNAP29 chr22 21175000 30775000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADORA2A,ADRBK2,AIFM3,AP1B1,ASCC2,ASPHD2,BCR,BCRP2,BCRP3,C22orf13,C22orf15,C22orf31,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CES5AP1,CHCHD10,CHEK2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,EMID1,EWSR1,FAM211B,FBXW4P1,GAS2L1,GATSL3,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HORMAD2,HPS4,HSCB,IGLL1,IGLL3P,IGLL5,KIAA1656,KIAA1671,KREMEN1,LIF,LOC100128531,LOC284889,LOC391322,LOC400891,LOC648691,LOC96610,LRP5L,LZTR1,MAPK1,MIAT,MIF,MIR130B,MIR301B,MIR3199-1,MIR3199-2,MIR3653,MIR548J,MIR650,MMP11,MN1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OSM,P2RX6,P2RX6P,PI4KA,PI4KAP2,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,RAB36,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RIMBP3B,RIMBP3C,RNF215,RTDR1,SDF2L1,SEZ6L,SF3A1,SGSM1,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBC1D10A,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TTC28,TTC28-AS1,TUBA3FP,UBE2L3,UPB1,UQCR10,VPREB1,VPREB3,XBP1,YDJC,YPEL1,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNRF3,ZNRF3-AS1 chr22 21183745 21183845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PI4KA chr22 21186686 21197201 Gain Normal 244K array 17666407 PI4KA chr22 21191540 21204180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21192617 21199167 Gain and loss Pancreatic cancer SNP array 17952125 PI4KA chr22 21195072 21211559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21195366 21210355 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21195502 21206727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21197275 21276357 Copy number gain Normal High-resolution SNP genotyping 21211785 CRKL,PI4KA,SNAP29 chr22 21197485 21207549 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21198060 21204613 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PI4KA chr22 21198063 21204613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PI4KA chr22 21198063 21204613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21198063 21204613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KA chr22 21200005 21208049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PI4KA chr22 21211223 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21211223 21589859 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KA,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21213247 21588615 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21214678 21226322 Gain and loss Pancreatic cancer SNP array 17952125 SNAP29 chr22 21218071 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21218071 21588615 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21220044 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21220122 21231696 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SNAP29 chr22 21220124 21231696 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SNAP29 chr22 21220124 21231696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNAP29 chr22 21220124 21231696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAP29 chr22 21228237 21588615 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21231750 21239007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNAP29 chr22 21231750 21239007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNAP29 chr22 21235393 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21235393 21581602 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,SNAP29,THAP7,THAP7-AS1,TUBA3FP chr22 21236056 21239431 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNAP29 chr2 22123771 22157976 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 221237716 221237816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21241000 30841000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 ADORA2A,ADRBK2,AIFM3,AP1B1,ASCC2,ASPHD2,BCR,BCRP2,BCRP3,C22orf13,C22orf15,C22orf31,C22orf43,C22orf45,CABIN1,CABP7,CCDC116,CCDC117,CCDC157,CES5AP1,CHCHD10,CHEK2,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,EMID1,EWSR1,FAM211B,FBXW4P1,GAS2L1,GATSL3,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HORMAD2,HPS4,HSCB,IGLL1,IGLL3P,IGLL5,KIAA1656,KIAA1671,KREMEN1,LIF,LOC100128531,LOC284889,LOC391322,LOC400891,LOC648691,LOC96610,LRP5L,LZTR1,MAPK1,MIAT,MIF,MIR130B,MIR301B,MIR3199-1,MIR3199-2,MIR3653,MIR548J,MIR650,MMP11,MN1,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OSM,P2RX6,P2RX6P,PI4KAP2,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,RAB36,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RIMBP3B,RIMBP3C,RNF215,RTDR1,SDF2L1,SEC14L2,SEZ6L,SF3A1,SGSM1,SLC2A11,SLC7A4,SMARCB1,SNAP29,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TBC1D10A,TFIP11,THAP7,THAP7-AS1,THOC5,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TTC28,TTC28-AS1,TUBA3FP,UBE2L3,UPB1,UQCR10,VPREB1,VPREB3,XBP1,YDJC,YPEL1,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNRF3,ZNRF3-AS1 chr22 21245057 21245097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNAP29 chr2 22125108 22868469 Gain Non-syndromic sensorineural hearing loss - 19587683 NOT_FOUND chr2 22125108 22868469 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 21252478 21252760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21257619 21553233 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21257631 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21260684 21261159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21260770 23394809 Gain Developmental delay affymetrix genechip 500K/SNP 6.87 array 21147756 AIFM3,BCRP2,CCDC116,CRKL,GGTLC2,HIC2,IGLL5,LOC400891,LOC648691,LOC96610,LZTR1,MAPK1,MIR130B,MIR301B,MIR650,P2RX6,P2RX6P,PI4KAP2,POM121L1P,POM121L8P,PPIL2,PPM1F,PRAME,RIMBP3B,RIMBP3C,SDF2L1,SLC7A4,THAP7,THAP7-AS1,TMEM191C,TOP3B,TUBA3FP,UBE2L3,VPREB1,YDJC,YPEL1,ZNF280A,ZNF280B chr22 21267037 21267526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21267566 21574167 Copy number gain Normal High-resolution SNP genotyping 21211785 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273462 21532509 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273462 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273462 21552109 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273462 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273462 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273462 21581602 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273462 21588603 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273462 21588994 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273474 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273912 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273912 21589859 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273912 21596118 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21273924 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21275010 21275105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRKL chr22 21275823 21479622 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21275823 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21275823 21552109 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21276915 21277635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRKL chr22 21279636 21476564 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21283527 21552121 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21290265 21573137 Copy number gain Normal High-resolution SNP genotyping 21211785 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21291042 21291633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRKL chr22 21292462 21446057 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21292462 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21292462 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21292462 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21292462 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21292462 21588603 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21298336 21552121 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21299100 21300541 Gain and loss Pancreatic cancer SNP array 17952125 CRKL chr22 21300000 22000000 Copy number Cognitive impairment - 21505072 AIFM3,BCRP2,CCDC116,CRKL,HIC2,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KAP2,POM121L8P,RIMBP3B,RIMBP3C,SDF2L1,SLC7A4,THAP7,THAP7-AS1,TMEM191C,TUBA3FP,UBE2L3,YDJC chr2 221300000 224900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSL3,AP1S3,CCDC140,EPHA4,FARSB,KCNE4,MOGAT1,MRPL44,PAX3,SCG2,SERPINE2,SGPP2,WDFY1 chr2 221300000 224900000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ACSL3,AP1S3,CCDC140,EPHA4,FARSB,KCNE4,MOGAT1,MRPL44,PAX3,SCG2,SERPINE2,SGPP2,WDFY1 chr2 221300000 224900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSL3,AP1S3,CCDC140,EPHA4,FARSB,KCNE4,MOGAT1,MRPL44,PAX3,SCG2,SERPINE2,SGPP2,WDFY1 chr2 221300000 230700000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ACSL3,AGFG1,AP1S3,C2orf83,CCDC140,CCL20,COL4A3,COL4A4,CUL3,DNER,DOCK10,EPHA4,FAM124B,FARSB,IRS1,KCNE4,LOC646736,MFF,MIR4439,MIR548AR,MIR5702,MIR5703,MOGAT1,MRPL44,NYAP2,PAX3,PID1,RHBDD1,SCG2,SERPINE2,SGPP2,SLC19A3,SPHKAP,TM4SF20,TRIP12,WDFY1,WDR69 chr22 21300127 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,CRKL,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21300 21600 Copy number Lymphoma KC-SMARTR 21070656 NOT_FOUND chr22 21300751 21324500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AIFM3,CRKL chr22 21303433 21309059 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRKL chr22 21303433 21311151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRKL chr22 21305601 21305701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRKL chr2 221306486 221662744 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr22 21309824 21311110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 21311500 21314931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 21311648 21316944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22131706 22943381 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr22 21318552 21320377 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 AIFM3 chr22 21318552 21320377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AIFM3 chr22 21318552 21320377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIFM3 chr22 21318781 21320368 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AIFM3 chr22 21318781 21320368 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 AIFM3 chr22 21319235 21321104 Gain and loss Pancreatic cancer SNP array 17952125 AIFM3 chr22 21320000 21980000 Copy number Cognitive impairment - 21505072 AIFM3,BCRP2,HIC2,LOC400891,LZTR1,P2RX6,P2RX6P,PI4KAP2,POM121L8P,RIMBP3B,RIMBP3C,SLC7A4,THAP7,THAP7-AS1,TMEM191C,TUBA3FP,UBE2L3 chr22 21323617 21323717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AIFM3 chr22 21324501 21584000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21327799 21523497 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21327799 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21327799 21553233 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21327799 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21327799 21585556 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21327799 21593262 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21328337 21593262 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21328485 21569263 Copy number gain Normal High-resolution SNP genotyping 21211785 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21328485 21574987 Copy number gain Normal High-resolution SNP genotyping 21211785 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21328610 21479622 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21328610 21511745 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21328610 21512643 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21328610 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21328610 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21330008 21570697 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21330008 21570697 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21332365 21498767 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21332365 21553233 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21332365 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21332365 21588603 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21332365 21592969 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21332699 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21332699 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21332699 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21333197 21442448 Copy number gain Normal High-resolution SNP genotyping 21211785 AIFM3,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21333197 21563148 Copy number gain Normal High-resolution SNP genotyping 21211785 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21333197 21578517 Copy number gain Normal High-resolution SNP genotyping 21211785 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21333197 21580895 Copy number gain Normal High-resolution SNP genotyping 21211785 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21333769 21334012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIFM3 chr22 21334375 21498767 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21334375 21500245 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21334375 21500245 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21334375 21511745 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21334375 21531812 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21334375 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21334375 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21334375 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21334375 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AIFM3,BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21336708 21578517 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21336898 21336993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LZTR1 chr22 21336943 21337377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LZTR1 chr22 21339692 21593274 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21340796 21341278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LZTR1 chr22 21341136 21359596 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 LZTR1,THAP7,THAP7-AS1 chr22 21341461 21511745 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21341461 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21341461 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21341461 21581602 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21341461 21581602 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21341461 21585556 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21341656 21565642 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21341656 21584709 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21342958 21577774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21345622 21346072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LZTR1 chr22 21347048 21584709 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21347541 21500245 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21347541 21517629 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21347541 21551264 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21347541 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21347541 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21347541 21592969 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21347541 21601342 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21348550 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21348550 21592969 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21349958 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21349958 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21349958 21596118 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21350384 21601342 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21351570 21351818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LZTR1 chr22 21353185 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21353185 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21353185 21588343 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21353185 21589388 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21353197 21552121 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21353197 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BCRP2,LOC400891,LZTR1,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21353592 21586237 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21354904 21596819 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7,THAP7-AS1,TUBA3FP chr22 21356411 21578517 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21356411 21584709 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21357411 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21357411 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21357411 21585556 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21357916 21551264 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21357928 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21359233 21359745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THAP7-AS1 chr22 21361339 21551112 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21361339 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21362315 21362462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THAP7-AS1 chr22 21363245 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21364078 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21364535 21432507 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC400891,P2RX6,P2RX6P,SLC7A4,THAP7-AS1,TUBA3FP chr22 21365233 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4,TUBA3FP chr22 21366924 21367437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUBA3FP chr22 21370138 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370138 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370138 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370138 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370138 21585556 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370138 21589859 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370138 21593262 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370391 21370485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RX6 chr22 21370436 21370906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RX6 chr22 21370977 21552267 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370977 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21370977 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21371591 21496988 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21373245 21373455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RX6 chr2 221373651 221373724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21375028 21580895 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21511745 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21511745 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21581602 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21585556 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21588603 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21589859 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21589859 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21593262 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376123 21593262 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21376814 21377304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RX6 chr22 21379577 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21379577 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21379577 21552109 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21379577 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21379577 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21379577 21581602 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21381908 21542693 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21381908 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21381908 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21381908 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21381908 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21381908 21581602 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6,P2RX6P,SLC7A4 chr22 21384203 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6P,SLC7A4 chr22 21384203 21585556 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6P,SLC7A4 chr22 21384904 21385692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A4 chr22 21387732 21546762 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 BCRP2,LOC400891,P2RX6P chr22 21387775 21387904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21388929 21542693 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21388929 21551264 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21388929 21551264 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21388929 21552279 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6P chr22 21388929 21553233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6P chr22 21388929 21585556 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891,P2RX6P chr22 21391507 21391905 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 21393148 21393640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21393254 21442448 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC400891,P2RX6P chr22 21393254 21458270 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,P2RX6P chr22 21393254 21582473 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,P2RX6P chr22 21393645 21973212 Loss Developmental delay affymetrix genechip 500K/SNP 6.88 array 21147756 BCRP2,HIC2,LOC400891,P2RX6P,PI4KAP2,POM121L8P,RIMBP3B,RIMBP3C,TMEM191C,UBE2L3 chr22 21393775 21580895 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,P2RX6P chr22 21393775 21599880 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2,LOC400891,P2RX6P chr22 21394581 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21394581 21551264 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21395245 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21395620 21540366 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21395620 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21395620 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21396109 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21396109 21551264 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21396109 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21396510 21551264 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891,P2RX6P chr22 21401672 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21401672 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21401672 21551112 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCRP2,LOC400891 chr22 21401672 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21401672 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21401672 21585556 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21407108 21407577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC400891 chr22 21407664 21431786 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 LOC400891 chr22 21408678 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21408678 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21408678 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21408678 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21408678 21585556 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21408678 21588603 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21411432 21411675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC400891 chr2 221411852 221411952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21413891 21543354 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21413891 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21413891 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21413891 21589859 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2,LOC400891 chr22 21419908 21420408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21420387 21580895 Copy number gain Normal High-resolution SNP genotyping 21211785 BCRP2 chr22 21420867 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21420867 21585556 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21420867 21596118 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21422986 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21422986 21588603 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21423445 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21423445 21588343 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21428043 21428286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21429160 21551112 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21429160 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21429160 21581602 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21431185 21431279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21431230 21431700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21431771 21551264 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21431771 21589859 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21432747 21553233 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21434787 21435009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21438864 21441256 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr22 21441958 21543354 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21441958 21552109 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21441958 21553233 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21441958 21588343 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21442491 21552291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 BCRP2 chr22 21443080 21593262 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21444326 21445075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21447022 21447184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21454376 21588343 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21462349 21492635 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 BCRP2 chr22 21464977 21465071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCRP2 chr22 21465022 21465492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCRP2 chr22 21469389 21588603 Duplication Normal Affymetrix 6.0 microarrays 20967226 BCRP2 chr22 21476328 21576188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCRP2 chr22 21481894 21581106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 21482039 29584212 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,ASPHD2,BCR,BCRP3,C22orf13,C22orf15,C22orf31,C22orf43,C22orf45,CABIN1,CCDC116,CCDC117,CES5AP1,CHCHD10,CHEK2,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HPS4,HSCB,IGLL1,IGLL3P,IGLL5,KIAA1671,KREMEN1,LOC100128531,LOC284889,LOC391322,LOC648691,LOC96610,LRP5L,MAPK1,MIAT,MIF,MIR130B,MIR301B,MIR3199-1,MIR3199-2,MIR548J,MIR650,MMP11,MN1,MYO18B,PI4KAP2,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L8P,POM121L9P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,TTC28,TTC28-AS1,UBE2L3,UPB1,VPREB1,VPREB3,XBP1,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70,ZNRF3,ZNRF3-AS1 chr22 21483268 21562842 Gain Normal 244K array 17666407 NOT_FOUND chr22 21484279 21484778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21487168 21487423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21491622 21492252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21495270 21495365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21495315 21495783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 221500000 231000000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACSL3,AGFG1,AP1S3,C2orf83,CCDC140,CCL20,COL4A3,COL4A4,CUL3,DNER,DOCK10,EPHA4,FAM124B,FARSB,FBXO36,IRS1,KCNE4,LOC646736,MFF,MIR4439,MIR548AR,MIR5702,MIR5703,MOGAT1,MRPL44,NYAP2,PAX3,PID1,RHBDD1,SCG2,SERPINE2,SGPP2,SLC16A14,SLC19A3,SPHKAP,TM4SF20,TRIP12,WDFY1,WDR69 chr22 21502432 21514431 Loss Normal TaqMan assays 20972442 NOT_FOUND chr22 21507041 21507293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21510779 21511049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 221511748 221511848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21513172 21558026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 21517432 21522431 Loss Normal TaqMan assays 20972442 NOT_FOUND chr22 21522550 21522799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 221526891 221526955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 221527459 221527559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21528720 21528813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21528937 21529213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21530200 21530443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21534432 21539431 Loss Normal TaqMan assays 20972442 NOT_FOUND chr22 21541432 21548431 Loss Normal TaqMan assays 20972442 NOT_FOUND chr22 21543718 21544214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21545391 21545619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21553092 21553572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22155518 22898784 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr2 22155518 22956055 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr22 21557432 21567431 Loss Normal TaqMan assays 20972442 NOT_FOUND chr22 21559192 21560914 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 21559960 21568005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21560192 21570139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 21560903 21579056 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr22 21560903 21579056 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 21562973 21571105 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 21565961 21566002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21567555 21567874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21568934 21582592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 221569184 221569277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21570554 21594928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 21571798 21571839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21573156 21573475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21577168 21577209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21578512 21578831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21581602 21589859 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 21582634 21616972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 21582740 21582775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21582998 21583245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21584001 21608500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 21586443 21586478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21587805 21588097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 221589945 221591450 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 221589945 221591450 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 21590336 21590373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 221591219 221591414 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 21591707 21592030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21593265 22607380 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.22 20877625 CCDC116,HIC2,MAPK1,MIR130B,MIR301B,PI4KAP2,POM121L8P,PPIL2,PPM1F,RIMBP3B,RIMBP3C,SDF2L1,TMEM191C,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1 chr22 21593570 21593607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21594766 21595085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21608501 21623500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 221621981 221622081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 221653603 221653906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 21660438 21660756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 221686445 221686538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 221700598 221700690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21726148 21808795 Gain and loss Pancreatic cancer SNP array 17952125 HIC2,RIMBP3B,RIMBP3C chr22 21730001 21760500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RIMBP3B,RIMBP3C chr22 21731594 21814241 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIC2,RIMBP3B,RIMBP3C chr22 21731594 21817208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIC2,RIMBP3B,RIMBP3C chr22 21731594 21817208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIC2,RIMBP3B,RIMBP3C chr22 21737088 21791777 Gain and loss Pancreatic cancer SNP array 17952125 HIC2,RIMBP3B,RIMBP3C chr22 21742534 21797221 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HIC2,RIMBP3B,RIMBP3C chr22 21742534 21797221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HIC2,RIMBP3B,RIMBP3C chr22 21742534 21797221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIC2,RIMBP3B,RIMBP3C chr22 21760501 21793000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIC2 chr22 21766097 21810374 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HIC2 chr2 221774526 221774626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 22177673 22177761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21779932 21780244 Loss or gain Normal 244K array 17666407 HIC2 chr22 21793001 21923500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HIC2,PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C,UBE2L3 chr22 21799471 21799741 Gain and loss Pancreatic cancer SNP array 17952125 HIC2 chr22 21800000 24300000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Deletion Asthma References 21956041 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Deletion or duplication Drug metabolism References 21956041 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Gain Colorectal cancer Copy Number Analyzer for Affymertix GeneChip Mapping arrays v2.0,Affymetrix Genotyping Console v2.1 21128281 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Gain or loss Systemic lupus erythematosus References 21956041 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 24300000 Microduplications 22q11.23 microdeletion syndrome array CGH 19193630 BCR,C22orf15,C22orf43,CCDC116,CES5AP1,CHCHD10,DERL3,FBXW4P1,GGTLC2,GNAZ,GSTT2,GSTT2B,GUSBP11,HIC2,IGLL1,IGLL5,LOC284889,LOC648691,LOC96610,MAPK1,MIF,MIR130B,MIR301B,MIR650,MMP11,PI4KAP2,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SLC2A11,SMARCB1,TMEM191C,TOP3B,UBE2L3,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21800000 27900000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADORA2A,ADRBK2,ASPHD2,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CCDC116,CES5AP1,CHCHD10,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HPS4,IGLL1,IGLL3P,IGLL5,KIAA1671,LOC100128531,LOC284889,LOC391322,LOC648691,LOC96610,LRP5L,MAPK1,MIAT,MIF,MIR130B,MIR301B,MIR548J,MIR650,MMP11,MYO18B,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L9P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,UBE2L3,UPB1,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21803170 21803782 Loss or gain Normal 244K array 17666407 HIC2 chr22 21804544 21804604 Gain and loss Pancreatic cancer SNP array 17952125 HIC2 chr22 21804917 21805187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIC2 chr22 21804919 21805207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HIC2 chr22 21807925 21809831 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 21807925 21809831 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr22 21808429 21809559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 21808587 21809213 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 21808695 21809273 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr22 21808807 21808897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21812067 21831085 Gain and loss Pancreatic cancer SNP array 17952125 PI4KAP2,TMEM191C chr22 21817513 21836531 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PI4KAP2,TMEM191C chr22 21817513 21836531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4KAP2,TMEM191C chr22 21817513 21836531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KAP2,TMEM191C chr2 22181843 22185352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 221822143 221822243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21827641 21827805 Gain and loss Pancreatic cancer SNP array 17952125 PI4KAP2 chr22 21837605 21837872 Gain and loss Pancreatic cancer SNP array 17952125 PI4KAP2 chr22 21838006 21838217 Gain and loss Pancreatic cancer SNP array 17952125 PI4KAP2 chr22 21843051 21843318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KAP2 chr22 21843452 21843663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4KAP2 chr22 21846660 21846937 Gain and loss Pancreatic cancer SNP array 17952125 PI4KAP2 chr22 21847625 21984774 Gain and loss Pancreatic cancer SNP array 17952125 PI4KAP2,RIMBP3B,RIMBP3C,UBE2L3,YDJC chr22 21851925 21852465 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PI4KAP2 chr2 221852028 221852126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21852552 21990224 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC116,PI4KAP2,RIMBP3B,RIMBP3C,UBE2L3,YDJC chr22 21852552 21990224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC116,PI4KAP2,RIMBP3B,RIMBP3C,UBE2L3,YDJC chr22 21852552 21990224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC116,PI4KAP2,RIMBP3B,RIMBP3C,UBE2L3,YDJC chr2 221886740 222213448 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr22 21888534 22566087 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CCDC116,MAPK1,MIR130B,MIR301B,PPIL2,PPM1F,RIMBP3B,RIMBP3C,SDF2L1,TOP3B,UBE2L3,YDJC,YPEL1 chr2 221890055 221890111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21893170 21976953 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 RIMBP3B,RIMBP3C,UBE2L3 chr2 221894379 221894479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21903058 28099306 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ADORA2A,ADRBK2,ASPHD2,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CCDC116,CES5AP1,CHCHD10,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HPS4,IGLL1,IGLL3P,IGLL5,KIAA1671,LOC100128531,LOC284889,LOC391322,LOC648691,LOC96610,LRP5L,MAPK1,MIAT,MIF,MIR130B,MIR301B,MIR548J,MIR650,MMP11,MYO18B,PIWIL3,POM121L10P,POM121L1P,POM121L9P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM211,TOP1P2,TOP3B,TPST2,UBE2L3,UPB1,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 21904901 21909600 Deletion Glioma mate-paired sequence 20126413 RIMBP3B,RIMBP3C,UBE2L3 chr22 21906857 21907812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBE2L3 chr22 21906901 21907796 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 UBE2L3 chr22 21916945 21957369 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 UBE2L3 chr22 21923501 21991500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC116,UBE2L3,YDJC chr22 21928523 21928804 Gain and loss Pancreatic cancer SNP array 17952125 UBE2L3 chr22 21929508 21931100 Gain and loss Pancreatic cancer SNP array 17952125 UBE2L3 chr22 21933969 21934250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2L3 chr22 21933974 21934258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2L3 chr22 21935323 21936541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2L3 chr22 21936578 22254406 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CCDC116,MAPK1,MIR130B,MIR301B,PPIL2,SDF2L1,UBE2L3,YDJC,YPEL1 chr2 221939001 221941500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 21944430 22991816 Gain Urothelial carcinoma array CGH validated by FISH 21177765 CCDC116,GGTLC2,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,POM121L1P,PPIL2,PPM1F,PRAME,SDF2L1,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1,ZNF280A,ZNF280B chr22 21948158 21948248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2L3 chr22 21949949 21957872 Amplification or deletion Cancer Array CGH 17440070 UBE2L3 chr22 21962191 22180167 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CCDC116,MAPK1,MIR130B,MIR301B,PPIL2,SDF2L1,UBE2L3,YDJC,YPEL1 chr22 21962191 22410163 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CCDC116,MAPK1,MIR130B,MIR301B,PPIL2,PPM1F,SDF2L1,TOP3B,UBE2L3,YDJC,YPEL1 chr22 21962191 23748456 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 BCR,CCDC116,CES5AP1,FBXW4P1,GGTLC2,GNAZ,IGLL5,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,MIR650,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RTDR1,SDF2L1,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B chr22 21963005 23840758 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 BCR,CCDC116,CES5AP1,FBXW4P1,GGTLC2,GNAZ,IGLL5,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,MIR650,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RTDR1,SDF2L1,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B chr22 21965685 22103948 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CCDC116,MIR130B,MIR301B,PPIL2,SDF2L1,UBE2L3,YDJC,YPEL1 chr22 21965685 22211587 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CCDC116,MAPK1,MIR130B,MIR301B,PPIL2,SDF2L1,UBE2L3,YDJC,YPEL1 chr22 21965685 22575018 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CCDC116,MAPK1,MIR130B,MIR301B,PPIL2,PPM1F,SDF2L1,TOP3B,UBE2L3,YDJC,YPEL1 chr22 21965685 23038955 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CCDC116,GGTLC2,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,POM121L1P,PPIL2,PPM1F,PRAME,SDF2L1,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1,ZNF280A,ZNF280B chr22 21965685 23404027 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CCDC116,GGTLC2,IGLL5,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,MIR650,POM121L1P,PPIL2,PPM1F,PRAME,RTDR1,SDF2L1,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1,ZNF280A,ZNF280B chr22 21965685 23779268 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 BCR,CCDC116,CES5AP1,FBXW4P1,GGTLC2,GNAZ,IGLL5,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,MIR650,POM121L1P,PPIL2,PPM1F,PRAME,RAB36,RTDR1,SDF2L1,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B chr22 21969649 23264408 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 CCDC116,GGTLC2,IGLL5,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,MIR650,POM121L1P,PPIL2,PPM1F,PRAME,SDF2L1,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1,ZNF280A,ZNF280B chr22 21978009 23326630 Gain Autism - 20841430 CCDC116,GGTLC2,IGLL5,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,MIR650,POM121L1P,PPIL2,PPM1F,PRAME,SDF2L1,TOP3B,UBE2L3,VPREB1,YDJC,YPEL1,ZNF280A,ZNF280B chr22 21987011 21987080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 21989278 21989665 Gain and loss Pancreatic cancer SNP array 17952125 CCDC116 chr2 221990990 222145254 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 221990990 222145254 Gain or loss Cancer - 20668451 NOT_FOUND chr2 221990990 222145254 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 221990990 222145254 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 221990990 222145254 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 221990990 222145254 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 221990993 222147166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 221990993 222147166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21994431 23440876 Gain Developmental delay affymetrix genechip 500K/SNP 6.89 array 21147756 GGTLC2,GNAZ,IGLL5,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,MIR650,POM121L1P,PPIL2,PPM1F,PRAME,RTDR1,SDF2L1,TOP3B,VPREB1,YPEL1,ZNF280A,ZNF280B chr22 21994724 21995111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 21996232 23317147 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 GGTLC2,IGLL5,LOC648691,LOC96610,MAPK1,MIR130B,MIR301B,MIR650,POM121L1P,PPIL2,PPM1F,PRAME,SDF2L1,TOP3B,VPREB1,YPEL1,ZNF280A,ZNF280B chr2 221997919 221998123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 222000070 222000170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 222010000 225420000 Loss Acute lymphoblastic leukemia - 21339820 ACSL3,AP1S3,CCDC140,CUL3,EPHA4,FAM124B,FARSB,KCNE4,MOGAT1,MRPL44,PAX3,SCG2,SERPINE2,SGPP2,WDFY1 chr22 22020300 22659711 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 LOC96610,MAPK1,PPIL2,PPM1F,TOP3B,VPREB1,YPEL1 chr2 222028671 225045133 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSL3,AP1S3,CCDC140,EPHA4,FARSB,KCNE4,MOGAT1,MRPL44,PAX3,SCG2,SERPINE2,SGPP2,WDFY1 chr22 22031797 22049201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPIL2 chr22 22031797 22054313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPIL2,YPEL1 chr22 22031797 22054313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPIL2,YPEL1 chr22 22051001 22062500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPIL2,YPEL1 chr22 22051225 22051325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPIL2 chr22 22057347 22069296 Gain and loss Pancreatic cancer SNP array 17952125 YPEL1 chr22 22062501 22064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 YPEL1 chr22 22062792 22074799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YPEL1 chr22 22062792 22074799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YPEL1 chr22 22062793 22074754 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 YPEL1 chr22 22064501 22077500 Copy number Normal ReadDepth: A Parallel R Package 21305028 YPEL1 chr22 22077501 22121500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPK1,YPEL1 chr22 22082136 22082255 Gain and loss Pancreatic cancer SNP array 17952125 YPEL1 chr22 22087582 22087701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YPEL1 chr2 222092528 222092621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 222096529 222096827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 222100000 228800000 Copy number Normal - 21701786 ACSL3,AGFG1,AP1S3,C2orf83,CCDC140,CCL20,COL4A3,COL4A4,CUL3,DOCK10,EPHA4,FAM124B,FARSB,IRS1,KCNE4,LOC646736,MFF,MIR4439,MIR548AR,MIR5702,MIR5703,MOGAT1,MRPL44,NYAP2,PAX3,RHBDD1,SCG2,SERPINE2,SGPP2,SLC19A3,TM4SF20,WDFY1,WDR69 chr22 22101503 22104165 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 222108254 222262515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22121501 22125000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPK1 chr22 22128828 22153647 Gain and loss Pancreatic cancer SNP array 17952125 MAPK1 chr22 22129001 22133500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPK1 chr22 22132916 22142830 Gain Normal 244K array 17666407 MAPK1 chr22 22134274 22159093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPK1 chr22 22134274 22159093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPK1 chr22 22134274 22159094 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAPK1 chr2 222138324 222138424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 222144001 222147000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 222151483 222151572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 222152576 222185801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 22158140 22159330 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MAPK1 chr2 222165408 222165791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22170349 22179278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAPK1 chr22 22171001 22282000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAPK1,PPM1F chr22 22172646 22182424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAPK1 chr22 22175234 22187072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAPK1 chr22 22176237 22181146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAPK1 chr22 22180211 33255348 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,AP1B1,AP1B1P1,ASCC2,ASPHD2,BCR,BCRP3,BPIFC,C22orf13,C22orf15,C22orf24,C22orf28,C22orf31,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CCDC117,CCDC157,CES5AP1,CHCHD10,CHEK2,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DERL3,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXO7,FBXW4P1,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HORMAD2,HPS4,HSCB,IGLL1,IGLL3P,IGLL5,INPP5J,KIAA1656,KIAA1671,KREMEN1,LIF,LIMK2,LOC100128531,LOC284889,LOC339666,LOC391322,LOC648691,LOC96610,LRP5L,MAPK1,MIAT,MIF,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3928,MIR548J,MIR650,MMP11,MN1,MORC2,MORC2-AS1,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L1P,POM121L9P,PPM1F,PRAME,PRR14L,RAB36,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RNF185,RNF215,RTDR1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SFI1,SGSM1,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SMARCB1,SMTN,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,SYN3,TBC1D10A,TCN2,TFIP11,THOC5,TIMP3,TMEM211,TOP1P2,TOP3B,TPST2,TTC28,TTC28-AS1,TUG1,UPB1,UQCR10,VPREB1,VPREB3,XBP1,YWHAH,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNRF3,ZNRF3-AS1 chr22 22184646 22476629 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 MAPK1,PPM1F,TOP3B chr2 222187660 222323689 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EPHA4 chr2 222197984 222680987 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EPHA4 chr22 22229101 22235100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 222229717 222229817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22230769 22233230 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 22239866 22247049 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22245312 22252495 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22245312 22252495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22245312 22252495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22275161 22275261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1F chr22 22280640 22304487 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPM1F chr22 22280640 22304487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1F chr22 22280640 22304487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1F chr22 22282001 22342500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPM1F,TOP3B chr2 222282684 222283052 Gain and loss Pancreatic cancer SNP array 17952125 EPHA4 chr22 22285450 22286887 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PPM1F chr22 22291673 22295907 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPM1F chr22 22294853 22294910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPM1F chr22 22298349 22298383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1F chr22 22298378 22298764 Gain and loss Pancreatic cancer SNP array 17952125 PPM1F chr22 22310865 22312612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOP3B chr22 22321400 22325521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOP3B chr22 22326607 22326744 Gain and loss Pancreatic cancer SNP array 17952125 TOP3B chr22 22332053 22332190 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TOP3B chr22 22342501 22349500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22342573 22951409 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC648691,LOC96610,PRAME,VPREB1,ZNF280A,ZNF280B chr22 22349501 22435000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22350263 22350347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22350721 22350820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22354877 22365624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22355598 22357450 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 22355609 22357663 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 22355618 22357538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 22360329 22371363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22360329 22371363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22363048 22371346 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 222367200 222367294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA4 chr22 22374036 22385184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 22374488 22513875 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 NOT_FOUND chr22 22380941 22384058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22384887 22384957 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr22 22386399 22389508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22386399 22389508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 222386695 222389216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPHA4 chr2 22240007 22243534 Loss Normal 244K array 17666407 NOT_FOUND chr22 22408327 22417833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22413773 22423279 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22413773 22423279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22413773 22423279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22419491 22421209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22424855 22426655 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22424855 22426655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22424855 22426655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22429762 22432601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22432576 22434695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22435001 22440000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22435208 22438047 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22435208 22438048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22435208 22438048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 222437086 222437129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22438021 22440141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22438021 22440141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22438024 22440141 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22439590 22451056 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22440001 22450000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22445036 22456502 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22445036 22456502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22445036 22456502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22449327 22449471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 22450001 22456000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22453704 22501255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22453910 22500921 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr22 22456001 22504000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22459149 22506705 Deletion Malignant rhabdoid rumor Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr22 22459149 22506705 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 22459149 22506705 Gain or loss Cancer - 20668451 NOT_FOUND chr22 22459149 22506705 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 22459149 22506705 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 22459149 22506705 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 22459149 22506705 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 22459150 22506701 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22459150 22506703 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22459150 22506703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 222459664 222491233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 22499718 22589040 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22499718 22621005 Allelic imbalance Normal High-resolution SNP genotyping 21211785 VPREB1 chr22 22501633 22505755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22503217 22589040 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22503217 22589040 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22503217 22590943 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22504001 22511500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22506690 22511201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22506690 22511201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22506692 22511201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22511501 22606500 Copy number Normal ReadDepth: A Parallel R Package 21305028 VPREB1 chr22 22521912 22561170 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22521912 22561170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22521912 22561170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22523613 22552277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22523901 22530300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr22 22525934 22528505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 22525940 22528608 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr22 22526591 22561926 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 22533922 22534122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22534229 22534274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 222545648 222545724 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 22545903 22546160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22546269 22546531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22551349 22551606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22551715 22551977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22555378 28056378 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ADORA2A,ADRBK2,ASPHD2,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HPS4,IGLL1,IGLL3P,IGLL5,KIAA1671,LOC100128531,LOC284889,LOC391322,LOC648691,LOC96610,LRP5L,MIAT,MIF,MIR548J,MIR650,MMP11,MYO18B,PIWIL3,POM121L10P,POM121L1P,POM121L9P,PRAME,RAB36,RGL4,RTDR1,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM211,TOP1P2,TPST2,UPB1,VPREB1,VPREB3,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 22561118 22561963 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22566564 22567409 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22566565 22567409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22566565 22567409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22566613 22571117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22571778 28313524 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ADORA2A,ADRBK2,ASPHD2,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HPS4,IGLL1,IGLL3P,IGLL5,KIAA1671,LOC100128531,LOC284889,LOC391322,LOC648691,LOC96610,LRP5L,MIAT,MIF,MIR548J,MIR650,MMP11,MN1,MYO18B,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L9P,PRAME,RAB36,RGL4,RTDR1,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM211,TOP1P2,TPST2,UPB1,VPREB1,VPREB3,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 22577062 22577454 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22578118 22578288 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 22578183 22578263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22583448 22670753 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22583617 22583709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22583629 22583709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22586650 22636579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPREB1 chr22 22587735 22621114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPREB1 chr22 22589040 22670492 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22589040 22671944 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22589040 22728844 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22590016 22660596 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC96610,VPREB1 chr22 22590943 22621005 Copy number loss Normal High-resolution SNP genotyping 21211785 VPREB1 chr22 22590943 22671944 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22590943 22674426 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22591913 22639559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPREB1 chr22 22595643 22663617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC96610,VPREB1 chr22 22596257 22673336 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22596322 22660055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC96610,VPREB1 chr22 22597412 22726600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC96610,VPREB1 chr22 22597668 22636561 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPREB1 chr22 22599087 22601761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPREB1 chr22 22599912 22728844 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22599912 22733906 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC96610,VPREB1 chr22 22600777 22674410 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22601599 22674410 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22604050 22621005 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22604050 22621005 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22604050 22621005 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22604050 22621005 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22604050 22667698 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22604050 22667698 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22604050 22671183 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22604050 22671183 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22604050 22671944 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22604050 22671944 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22604050 22674426 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22604108 22641408 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr22 22604143 22641297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 22604432 22611431 Loss Normal TaqMan assays 20972442 NOT_FOUND chr22 22604694 22723721 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC96610 chr22 22606435 22609225 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 22606501 22714500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC96610 chr22 22609365 22728844 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22610814 22671183 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22613004 22654861 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22613004 22667295 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22613004 22674410 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22613004 22726802 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC96610 chr22 22613016 22625776 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 22613016 22670785 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC96610 chr22 22613016 22674422 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC96610 chr22 22613016 22726814 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC96610 chr22 22613016 22731529 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC96610 chr22 22613313 22614985 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22613313 22615060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22614770 22674410 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22618367 22670789 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC96610 chr22 22618367 22731529 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC96610 chr22 22621005 22728844 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22622105 22626229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 222622944 222623032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22624163 22627937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22625776 22641231 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 22629605 22633393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22629609 22633383 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22630785 22667295 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22630785 22674410 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22633657 22634310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 222634447 222634836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22635967 22636561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22638116 22646573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22639026 22644747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22639090 22644721 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22641219 22667295 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22641231 22670785 Loss Normal Birdsuite, version 1.5.2 22087296 LOC96610 chr22 22643555 22652660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC96610 chr22 22643555 22652660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC96610 chr22 22643562 22652019 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 222646638 222646689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22646878 22650652 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 22264713 22266690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22264713 22266690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22651137 22726814 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC96610 chr22 22651407 22665952 Gain Normal 244K array 17666407 LOC96610 chr2 222652070 222653688 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22652314 22656102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC96610 chr22 22652314 22656102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC96610 chr22 22652324 22656098 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC96610 chr22 22655887 22735180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC96610 chr22 22657434 22738730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC96610 chr2 222657720 222702445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 22658187 22722267 Substitutions and indels small cell lung cancer array-CGH 20016488 LOC96610 chr22 22659511 22663615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC96610 chr22 22659711 22715534 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22659711 22726802 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22659712 22732723 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC96610 chr22 22660207 22674409 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC96610 chr22 22662137 22733906 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC96610 chr2 22266401 22300730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 22664669 22754672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC96610 chr22 22664706 22714914 Copy number Lung cancer paired-end sequencing 18438408 LOC96610 chr22 22665149 22671812 Gain and loss Pancreatic cancer SNP array 17952125 LOC96610 chr22 22665951 22729409 Loss or gain Normal 244K array 17666407 LOC96610 chr22 22667033 22731558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC96610 chr22 22667295 22726802 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22667937 22726802 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22670595 22677258 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC96610 chr22 22670599 22728844 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22670599 22733906 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22670599 22733906 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22670753 22728844 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22670785 22674422 Loss Normal Birdsuite, version 1.5.2 22087296 LOC96610 chr22 22672948 22728368 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC96610 chr22 22673336 22728844 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22673336 22728844 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22673336 22728844 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22674048 22674116 Gain and loss Pancreatic cancer SNP array 17952125 LOC96610 chr22 22674114 22674185 Gain and loss Pancreatic cancer SNP array 17952125 LOC96610 chr22 22674197 22674264 Gain and loss Pancreatic cancer SNP array 17952125 LOC96610 chr22 22674268 22677258 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC96610 chr22 22674268 22677258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC96610 chr22 22674410 22715534 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22674410 22726802 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC96610 chr22 22674410 22726802 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC96610 chr22 22674411 22731516 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LOC96610 chr22 22674422 22680528 Loss Normal Birdsuite, version 1.5.2 22087296 LOC96610 chr22 22674422 22726814 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC96610 chr22 22674426 22728844 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22674426 22728844 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22674426 22728844 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22675706 22728844 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22675706 22728844 Copy number loss Normal High-resolution SNP genotyping 21211785 LOC96610 chr22 22677759 22735236 Copy number Incontinentia Pigmenti Agilent SurePrint G17 one Million microarrays 22033527 NOT_FOUND chr22 22677814 22728844 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22677814 22728844 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 22677904 22679416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22678440 22678799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22679560 22679631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22679643 22679710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22680068 22682081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22680517 22712750 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 22680517 22724003 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 22680517 22726802 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 22680528 22680529 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 22680529 22726814 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 22680529 22726814 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 22681995 22712211 Duplication Rett syndrome References 21593744 NOT_FOUND chr22 22683738 22726802 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 22691306 22695436 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22696038 22725353 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr22 22696752 22700882 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22696752 22700882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22698078 22698175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22698344 22726802 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 22700696 22708825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22703138 22703785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22706138 22714284 Copy number Ischemic vascular disease References 21846869 NOT_FOUND chr22 22706138 22714284 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr22 22706138 22714284 Copy number Normal Illumina Human610-Quad BeadChip 21660214 NOT_FOUND chr22 22706138 22714284 Decreasing copy number Corpus uteri cancer real-time PCR 20514077 NOT_FOUND chr22 22706138 22714284 Decreasing copy number Prostate cancer real-time PCR 20514077 NOT_FOUND chr22 22706142 22714271 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22706142 22714271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22706142 22714271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22706313 22707022 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr22 22708012 22711719 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr22 22714501 22735000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 222718323 222763754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 22726814 22731529 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 22729824 22731200 Loss Normal 244K array 17666407 NOT_FOUND chr22 22730046 26706391 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADORA2A,ADRBK2,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,IGLL1,IGLL3P,IGLL5,KIAA1671,LOC100128531,LOC284889,LOC391322,LOC648691,LRP5L,MIF,MIR650,MMP11,MYO18B,PIWIL3,POM121L10P,POM121L1P,POM121L9P,PRAME,RAB36,RGL4,RTDR1,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SUSD2,TMEM211,TOP1P2,UPB1,VPREB3,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 chr22 22730379 22942095 Substitutions and indels small cell lung cancer array-CGH 20016488 LOC648691,PRAME,ZNF280A,ZNF280B chr22 22731196 30657843 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 ADORA2A,ADRBK2,AP1B1,ASCC2,ASPHD2,BCR,BCRP3,C22orf13,C22orf15,C22orf31,C22orf43,C22orf45,CABIN1,CABP7,CCDC117,CES5AP1,CHCHD10,CHEK2,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,EMID1,EWSR1,FAM211B,FBXW4P1,GAS2L1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HORMAD2,HPS4,HSCB,IGLL1,IGLL3P,IGLL5,KIAA1671,KREMEN1,LIF,LOC100128531,LOC284889,LOC391322,LOC648691,LRP5L,MIAT,MIF,MIR3199-1,MIR3199-2,MIR3653,MIR548J,MIR650,MMP11,MN1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,PITPNB,PIWIL3,POM121L10P,POM121L1P,POM121L9P,PRAME,RAB36,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,RTDR1,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,THOC5,TMEM211,TOP1P2,TPST2,TTC28,TTC28-AS1,UPB1,UQCR10,VPREB3,XBP1,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNRF3,ZNRF3-AS1 chr22 22731529 22732736 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 22732319 22899150 Gain and loss Pancreatic cancer SNP array 17952125 PRAME,ZNF280A,ZNF280B chr22 22732751 22734704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22733254 38427376 Copy number Lung cancer paired-end sequencing 18438408 ADORA2A,ADRBK2,ANKRD54,AP1B1,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ASCC2,ASPHD2,BCR,BCRP3,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf28,C22orf31,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CACNG2,CARD10,CCDC117,CCDC157,CDC42EP1,CES5AP1,CHCHD10,CHEK2,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSF2RB,CYTH4,DDT,DDTL,DEPDC5,DERL3,DRG1,DUSP18,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,EWSR1,FAM211B,FBXO7,FBXW4P1,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,H1F0,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IGLL1,IGLL3P,IGLL5,IL2RB,INPP5J,ISX,KCTD17,KIAA1656,KIAA1671,KREMEN1,LARGE,LGALS1,LGALS2,LIF,LIMK2,LOC100128531,LOC100506195,LOC100506241,LOC284889,LOC339666,LOC391322,LOC648691,LRP5L,MB,MCM5,MFNG,MIAT,MICALL1,MIF,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4534,MIR4764,MIR548J,MIR650,MIR658,MIR659,MMP11,MN1,MORC2,MORC2-AS1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NCF4,NEFH,NF2,NIPSNAP1,NOL12,OSBP2,OSM,PATZ1,PDXP,PES1,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POLR2F,POM121L10P,POM121L1P,POM121L9P,PRAME,PRR14L,PVALB,RAB36,RAC2,RASD2,RASL10A,RBFOX2,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RNF185,RNF215,RTDR1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SFI1,SGSM1,SH3BP1,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SMARCB1,SMTN,SNORD125,SNRPD3,SOX10,SPECC1L,SRRD,SSTR3,SUSD2,SYN3,TBC1D10A,TCN2,TEX33,TFIP11,THOC5,TIMP3,TMEM211,TMPRSS6,TOM1,TOP1P2,TPST2,TRIOBP,TST,TTC28,TTC28-AS1,TUG1,TXN2,UPB1,UQCR10,VPREB3,XBP1,YWHAH,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNRF3,ZNRF3-AS1 chr22 22735001 22821000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22737765 22904596 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC648691,PRAME,ZNF280A,ZNF280B chr22 22737765 22904596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC648691,PRAME,ZNF280A,ZNF280B chr22 22737765 22904596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC648691,PRAME,ZNF280A,ZNF280B chr22 22752898 22752992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 222772850 222871944 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 222772850 222871944 Gain or loss Cancer - 20668451 NOT_FOUND chr2 222772850 222871944 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 222772850 222871944 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 222772850 222871944 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 222772850 222871944 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 222772851 222871944 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 222772851 222871944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 222772851 222871944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22795270 22989794 Loss Barrett's syndrome BAC array 19417022 GGTLC2,LOC648691,POM121L1P,PRAME,ZNF280A,ZNF280B chr22 22795650 22795750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22808032 22808132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 222808587 222808737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 222813345 222813445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22821001 22879000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF280A,ZNF280B chr22 22843672 22843772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF280B chr2 222864415 222864515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 222868001 222886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 222871110 222878180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 222871110 222878180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 222871110 222878180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22874817 22874909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22879001 22917500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC648691,PRAME chr2 222884690 222884790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 222890112 222989205 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22901979 22909628 Gain and loss Pancreatic cancer SNP array 17952125 LOC648691 chr22 22907444 22915074 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC648691 chr22 22907444 22915074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC648691 chr22 22907444 22915074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC648691 chr22 22917501 22957000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 222925848 222925998 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22933219 22933314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 22940182 22965654 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22945622 22971110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22945622 22971110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22945628 22971100 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22947999 23002935 Substitutions and indels small cell lung cancer array-CGH 20016488 GGTLC2,POM121L1P chr22 22957001 22960500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22960501 22968500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22968501 22989250 Copy number Normal ReadDepth: A Parallel R Package 21305028 GGTLC2,POM121L1P chr22 22972350 22986042 Gain and loss Pancreatic cancer SNP array 17952125 POM121L1P chr22 22974042 22975434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POM121L1P chr22 22974042 22975434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POM121L1P chr22 22977589 22991492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GGTLC2,POM121L1P chr22 22977589 22991492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GGTLC2,POM121L1P chr22 22977796 22991488 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GGTLC2,POM121L1P chr2 222977948 222978058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22985897 22989732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GGTLC2,POM121L1P chr2 222988371 222995441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22989874 22990047 Gain and loss Pancreatic cancer SNP array 17952125 GGTLC2 chr22 22991420 23137766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 22995314 22996103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22995314 22996103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22995501 22997500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 22996866 23143212 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 22996866 23143212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22996866 23143212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 22996866 23168324 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR650 chr22 22996866 23168324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR650 chr22 22996866 23168324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR650 chr2 222997015 223133911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAX3 chr2 222997015 223133911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAX3 chr2 223008696 223011945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23010951 23965479 Substitutions and indels small cell lung cancer array-CGH 20016488 BCR,C22orf43,CES5AP1,FBXW4P1,GNAZ,IGLL1,IGLL5,MIR650,RAB36,RTDR1,ZDHHC8P1 chr2 22305305 22305405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 223061458 223061558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 223071254 223071361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAX3 chr2 223095207 223095317 Gain and loss Pancreatic cancer SNP array 17952125 PAX3 chr2 223095211 223095317 Gain and loss Pancreatic cancer SNP array 17952125 PAX3 chr2 223114827 223249122 Gain and loss Pancreatic cancer SNP array 17952125 CCDC140,PAX3 chr22 23130001 23144000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 23144001 23148000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 223144710 223229044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC140,PAX3 chr22 23148001 23163500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 23148091 23162878 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23149732 23152952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23155178 23158398 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 23155178 23158398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23155178 23158398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 223155371 223155471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAX3 chr2 223160164 223160252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAX3 chr22 23163501 23267000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGLL5,MIR650 chr22 23169502 23429901 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 GNAZ,IGLL5,RTDR1 chr22 23170782 23170882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 223188515 223188622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 223188516 223188622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 223189935 223190223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 23206428 23207004 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 23215866 23247106 Gain and loss Pancreatic cancer SNP array 17952125 IGLL5 chr22 23221251 23252552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IGLL5 chr22 23221251 23252552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGLL5 chr22 23221251 23252552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGLL5 chr22 23221473 23221560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 223244749 223282860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 223244749 223282860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23250000 24160000 Duplication Schizophrenia BAC array CGH 17989066 BCR,C22orf15,C22orf43,CES5AP1,CHCHD10,FBXW4P1,GNAZ,GUSBP11,IGLL1,MMP11,RAB36,RGL4,RTDR1,SMARCB1,VPREB3,ZDHHC8P1,ZNF70 chr2 223260765 223346310 Gain and loss Pancreatic cancer SNP array 17952125 SGPP2 chr22 23260964 23275834 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23266410 23281280 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 23266410 23281903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23266410 23281903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23267001 23282000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 223270859 223270962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23276172 23293063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23281618 23298509 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 23281618 23335947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23281618 23335947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23287009 23287061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 23304272 23349522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23306157 23313548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23307501 23310500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 23309718 23354972 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 23309718 23354972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23309718 23354972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23310501 23385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 23311586 23319029 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 23311588 23319030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23311588 23319030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23313017 24065946 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BCR,C22orf43,CES5AP1,FBXW4P1,GNAZ,GUSBP11,IGLL1,RAB36,RGL4,RTDR1,ZDHHC8P1 chr2 223360892 223366123 Amplification or deletion Cancer Array CGH 17440070 SGPP2 chr2 223362010 223400154 Gain and loss Pancreatic cancer SNP array 17952125 SGPP2 chr22 23363062 23363832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 23365258 23371788 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23371604 23377234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 23371604 23377234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23378383 23378483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23382276 23422245 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GNAZ,RTDR1 chr22 23383448 23384732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23383448 23384732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23385001 24044500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BCR,C22orf43,CES5AP1,FBXW4P1,GNAZ,GUSBP11,IGLL1,RAB36,RGL4,RTDR1,ZDHHC8P1 chr2 223388120 223388223 Gain and loss Pancreatic cancer SNP array 17952125 SGPP2 chr22 23400894 23400961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23406689 23407197 Gain and loss Pancreatic cancer SNP array 17952125 RTDR1 chr2 223409410 223443499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FARSB,SGPP2 chr22 23412890 23414054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAZ,RTDR1 chr2 223416681 223417058 Gain and loss Pancreatic cancer SNP array 17952125 SGPP2 chr22 23418282 23418367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GNAZ,RTDR1 chr22 23422585 23456501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GNAZ,RTDR1 chr22 23432813 23433043 Gain and loss Pancreatic cancer SNP array 17952125 GNAZ,RTDR1 chr2 223433976 223516360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FARSB chr2 223433976 223516360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARSB chr22 23438259 23438487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAZ,RTDR1 chr22 23439993 23483020 Gain and loss Pancreatic cancer SNP array 17952125 GNAZ,RTDR1 chr2 223444622 223490058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FARSB chr22 23445001 23500683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GNAZ,RAB36,RTDR1 chr22 23445001 23500683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAZ,RAB36,RTDR1 chr22 23445001 23500683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAZ,RAB36,RTDR1 chr2 223466501 223472900 Deletion Glioma mate-paired sequence 20126413 FARSB chr2 223468423 223470915 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FARSB chr2 223468426 223470918 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 FARSB chr2 223472235 224349813 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSL3,FARSB,KCNE4,MOGAT1 chr22 23475160 23475255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTDR1 chr22 23484416 48053047 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ASCC2,ASPHD2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BCR,BCRP3,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf26,C22orf28,C22orf31,C22orf32,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC117,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CN5H6.4,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT5,GRAMD4,GRAP2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IGLL1,IGLL3P,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284889,LOC339666,LOC388906,LOC391322,LOC400927,LOC730668,LRP5L,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MIAT,MICALL1,MIF,MIR1249,MIR1281,MIR3199-1,MIR3199-2,MIR3200,MIR33A,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OSBP2,OSM,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L9P,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SERHL,SERHL2,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TCF20,TCN2,TEF,TEX33,TFIP11,THOC5,TIMP3,TMEM184B,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TPST2,TRIOBP,TRMU,TSPO,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUG1,TXN2,UPB1,UPK3A,UQCR10,VPREB3,WBP2NL,WNT7B,XBP1,XPNPEP3,XRCC6,YWHAH,ZC3H7B,ZDHHC8P1,ZMAT5,ZNF70,ZNRF3,ZNRF3-AS1 chr2 223489410 223489510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FARSB chr22 23500000 25900000 Copy number Li-fraumeni syndrome Affymetrix GeneChip 250K Nsp microarray 18685109 ADORA2A,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,IGLL1,IGLL3P,KIAA1671,LOC100128531,LOC284889,LOC391322,LRP5L,MIF,MMP11,PIWIL3,POM121L10P,POM121L9P,RAB36,RGL4,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SUSD2,TMEM211,TOP1P2,UPB1,VPREB3,ZDHHC8P1,ZNF70 chr22 23500000 25900000 Deletion Cancer Duplex PCR 19424424 ADORA2A,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,IGLL1,IGLL3P,KIAA1671,LOC100128531,LOC284889,LOC391322,LRP5L,MIF,MMP11,PIWIL3,POM121L10P,POM121L9P,RAB36,RGL4,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SUSD2,TMEM211,TOP1P2,UPB1,VPREB3,ZDHHC8P1,ZNF70 chr22 23500000 25900000 Duplication Cancer Duplex PCR 19424424 ADORA2A,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,IGLL1,IGLL3P,KIAA1671,LOC100128531,LOC284889,LOC391322,LRP5L,MIF,MMP11,PIWIL3,POM121L10P,POM121L9P,RAB36,RGL4,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SUSD2,TMEM211,TOP1P2,UPB1,VPREB3,ZDHHC8P1,ZNF70 chr22 23500000 25900000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADORA2A,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,IGLL1,IGLL3P,KIAA1671,LOC100128531,LOC284889,LOC391322,LRP5L,MIF,MMP11,PIWIL3,POM121L10P,POM121L9P,RAB36,RGL4,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SUSD2,TMEM211,TOP1P2,UPB1,VPREB3,ZDHHC8P1,ZNF70 chr22 23500000 25900000 Loss Esophageal adenocarcinoma MLPA 18820669 ADORA2A,BCR,BCRP3,C22orf13,C22orf15,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FAM211B,FBXW4P1,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,IGLL1,IGLL3P,KIAA1671,LOC100128531,LOC284889,LOC391322,LRP5L,MIF,MMP11,PIWIL3,POM121L10P,POM121L9P,RAB36,RGL4,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SUSD2,TMEM211,TOP1P2,UPB1,VPREB3,ZDHHC8P1,ZNF70 chr2 223505603 223505919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FARSB chr2 223515385 223516062 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FARSB chr2 22352099 22352473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 23532136 23653545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCR,FBXW4P1 chr22 23532136 23653545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCR,FBXW4P1 chr22 23532255 23652813 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BCR,FBXW4P1 chr2 223551237 223633623 Gain and loss Pancreatic cancer SNP array 17952125 MOGAT1 chr22 23565226 23645877 Gain and loss Pancreatic cancer SNP array 17952125 BCR,FBXW4P1 chr2 223571301 223580000 Deletion Glioma mate-paired sequence 20126413 MOGAT1 chr2 223573334 223578121 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MOGAT1 chr2 22358097 22358197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 223581366 223625008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 223581654 223622246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 23594364 23594419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCR chr22 23595985 23627388 Copy number Chronic myeloid leukemia Real-time quantitative reverse transcription PCR assay 18641042 BCR,FBXW4P1 chr22 23621668 23621735 Gain and loss Pancreatic cancer SNP array 17952125 BCR chr2 223625106 223628597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 223625106 223628597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23627114 23627181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCR chr2 223644880 242571083 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ACSL3,AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,C2orf83,CAB39,CAPN10,CCL20,CHRND,CHRNG,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CUL3,CXCR7,DGKD,DIS3L2,DNAJB3,DNER,DOCK10,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FAM124B,FARP2,FBXO36,FLJ43879,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,INPP5D,IQCA1,IRS1,ITM2C,KCNE4,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4439,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MIR548AR,MIR5702,MIR5703,MLPH,MRPL44,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NGEF,NMUR1,NPPC,NYAP2,OR6B2,OR6B3,OTOS,PASK,PDE6D,PER2,PID1,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RHBDD1,RNPEPL1,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SH3BP4,SLC16A14,SLC19A3,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPHKAP,SPP2,STK25,THAP4,TIGD1,TM4SF20,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40,WDFY1,WDR69 chr22 23650450 23650716 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BCR chr22 23651716 23695779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BCR chr2 223653467 223653567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23661077 23672662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23661077 23672662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23661208 23665314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 223673204 223673299 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 223682109 223682209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23691355 24281461 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 C22orf15,C22orf43,CES5AP1,CHCHD10,DERL3,GUSBP11,IGLL1,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZDHHC8P1,ZNF70 chr22 23691355 24281461 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C22orf15,C22orf43,CES5AP1,CHCHD10,DERL3,GUSBP11,IGLL1,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZDHHC8P1,ZNF70 chr2 223742432 223744133 Gain and loss Pancreatic cancer SNP array 17952125 ACSL3 chr22 23753158 23923415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGLL1 chr22 23753158 23923415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGLL1 chr22 23753967 23923405 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IGLL1 chr22 23773531 23773631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 223778001 223779500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSL3 chr22 23786104 23792126 Loss Normal 244K array 17666407 NOT_FOUND chr22 23790734 23917959 Gain and loss Pancreatic cancer SNP array 17952125 IGLL1 chr22 23796557 23796732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 23800000 29900000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ADORA2A,ADRBK2,AP1B1,ASPHD2,BCRP3,C22orf13,C22orf15,C22orf31,C22orf43,C22orf45,CABIN1,CCDC117,CHCHD10,CHEK2,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,EMID1,EWSR1,FAM211B,GAS2L1,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HPS4,HSCB,IGLL1,IGLL3P,KIAA1671,KREMEN1,LOC100128531,LOC284889,LOC391322,LRP5L,MIAT,MIF,MIR3199-1,MIR3199-2,MIR3653,MIR548J,MMP11,MN1,MYO18B,NEFH,PITPNB,PIWIL3,POM121L10P,POM121L9P,RASL10A,RFPL1,RFPL1-AS1,RGL4,RHBDD3,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM211,TOP1P2,TPST2,TTC28,TTC28-AS1,UPB1,VPREB3,XBP1,ZNF70,ZNRF3,ZNRF3-AS1 chr22 23813884 23827723 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 22381401 22381423 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 NOT_FOUND chr2 223821469 223821756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 223821470 223821756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 223830319 223830351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23872570 23872679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23872600 23872661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23872691 23872884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23874371 24281461 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C22orf15,C22orf43,CHCHD10,DERL3,GUSBP11,IGLL1,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23874371 24281461 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C22orf15,C22orf43,CHCHD10,DERL3,GUSBP11,IGLL1,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr2 223882730 223882886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 223882870 223883069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 223894559 223894631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 223900091 223900191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23904049 23904727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23920379 23927878 Gain and loss Pancreatic cancer SNP array 17952125 IGLL1 chr22 23925825 23933324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23925825 23933324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22393430 22393621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 223938731 223939017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 23940023 24454751 LOH Normal High-resolution SNP genotyping 21211785 C22orf15,C22orf43,CABIN1,CHCHD10,DDT,DDTL,DERL3,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,LOC284889,LOC391322,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23941939 23952376 Gain and loss Pancreatic cancer SNP array 17952125 C22orf43 chr22 23945612 23957836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C22orf43 chr22 23951745 23951845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C22orf43 chr2 223953245 223953310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23961316 24059954 Loss Normal 244K array 17666407 C22orf43,GUSBP11,RGL4 chr22 23971417 24250622 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C22orf15,C22orf43,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23971417 24250622 Copy number gain Normal High-resolution SNP genotyping 21211785 C22orf15,C22orf43,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23973039 24250335 Substitutions and indels small cell lung cancer array-CGH 20016488 C22orf15,C22orf43,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr2 223974291 223974371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 23976306 24247042 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23976306 24247042 Copy number gain Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23976814 24145392 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C22orf15,CHCHD10,GUSBP11,MMP11,RGL4,SMARCB1,VPREB3,ZNF70 chr22 23976814 24145392 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C22orf15,CHCHD10,GUSBP11,MMP11,RGL4,SMARCB1,VPREB3,ZNF70 chr22 23976814 24281461 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23976814 24281461 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23978652 24248609 Loss or gain Normal 244K array 17666407 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23979738 23979838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23983115 24117253 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 C22orf15,CHCHD10,GUSBP11,MMP11,RGL4,VPREB3,ZNF70 chr22 23988525 23993984 Gain Normal Birdsuite, version 1.5.2 22087296 GUSBP11 chr2 223990447 223990547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 23993066 24240495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993066 24240495 Copy number loss Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993066 24250622 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993066 24250622 Copy number gain Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993973 24245850 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993973 24248709 Deletion Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993973 24248709 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993973 24248709 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993973 24252335 Deletion Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993973 24252536 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23993985 24248712 Gain or loss Normal Birdsuite, version 1.5.2 22087296 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23994618 24233543 Deletion Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 C22orf15,CHCHD10,DERL3,GUSBP11,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23994801 24066678 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GUSBP11,RGL4 chr22 23994801 24244085 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23994832 24245656 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23995196 24250622 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23997357 24253098 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23997357 24253098 Copy number gain Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23999569 24241088 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23999569 24245850 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23999569 24245850 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23999569 24248709 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23999569 24248709 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 23999569 24252536 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr2 224000431 224177568 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr2 224011820 224011892 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 24012780 24245850 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24012780 24246386 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24014819 24241436 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24015825 24241436 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24015825 24244073 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24016804 24253098 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24016804 24253098 Copy number gain Normal High-resolution SNP genotyping 21211785 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr2 224017249 224017349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 24019061 24248709 Deletion Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24019061 24248709 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24022729 24248709 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24030895 24248709 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24034218 24241088 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24034218 24241436 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24042173 24246386 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24043842 24235625 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 C22orf15,CHCHD10,DERL3,GUSBP11,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24043866 24255338 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24043888 24046192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUSBP11 chr22 24043888 24046192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUSBP11 chr22 24044501 24046000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GUSBP11 chr22 24046001 24070000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GUSBP11 chr22 24048049 24048429 Gain and loss Pancreatic cancer SNP array 17952125 GUSBP11 chr22 24048818 24241436 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24048818 24252536 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24048818 24252536 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24050614 24280964 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24053219 24065942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GUSBP11 chr22 24053219 24065942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUSBP11 chr22 24056663 24246386 Duplication Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,GUSBP11,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24064534 24176206 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,MMP11,SMARCB1,VPREB3,ZNF70 chr22 24066334 24075888 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr22 24066660 24248709 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24070001 24084000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF70 chr22 24070138 24070831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 24071983 24083078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 24075904 24248709 Deletion Normal Affymetrix 6.0 microarrays 20967226 C22orf15,CHCHD10,DERL3,LOC284889,MIF,MMP11,SLC2A11,SMARCB1,VPREB3,ZNF70 chr22 24077424 24131324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C22orf15,CHCHD10,MMP11,SMARCB1,VPREB3,ZNF70 chr22 24077424 24131324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C22orf15,CHCHD10,MMP11,SMARCB1,VPREB3,ZNF70 chr22 24084001 24089000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF70 chr22 24087756 24089559 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZNF70 chr22 24089001 24132000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C22orf15,CHCHD10,MMP11,SMARCB1,VPREB3,ZNF70 chr22 24113145 24240404 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 DERL3,LOC284889,MIF,MMP11,SLC2A11,SMARCB1 chr22 24129150 24176703 Microdeletion Cancer References 16582616 DERL3,SMARCB1 chr22 24129150 24176704 Deletion or amplification Schwannoma Affymetrix SNP6 array analysis 20729918 DERL3,SMARCB1 chr22 24132001 24198500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DERL3,SMARCB1 chr2 22415263 22415380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 24155670 49397088 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ASCC2,ASPHD2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BCRP3,BIK,BPIFC,C1QTNF6,C22orf13,C22orf23,C22orf24,C22orf26,C22orf28,C22orf31,C22orf32,C22orf42,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC117,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHEK2,CN5H6.4,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT5,GRAMD4,GRAP2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IGLL3P,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284889,LOC284933,LOC339666,LOC388906,LOC391322,LOC400927,LOC730668,LRP5L,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MIAT,MICALL1,MIF,MIR1249,MIR1281,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OSBP2,OSM,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L9P,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SERHL,SERHL2,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TCF20,TCN2,TEF,TEX33,TFIP11,THOC5,TIMP3,TMEM184B,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TPST2,TRIOBP,TRMU,TSPO,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUG1,TXN2,UPB1,UPK3A,UQCR10,WBP2NL,WNT7B,XBP1,XPNPEP3,XRCC6,YWHAH,ZC3H7B,ZMAT5,ZNRF3,ZNRF3-AS1 chr2 224169906 224175369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224169906 224175369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224181345 224181578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 24183283 24187186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 24183283 24187186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 24198507 24198670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 224224587 224224687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 24236638 49691432 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ASCC2,ASPHD2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BCRP3,BIK,BPIFC,C1QTNF6,C22orf13,C22orf23,C22orf24,C22orf26,C22orf28,C22orf31,C22orf32,C22orf42,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC117,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHEK2,CN5H6.4,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT5,GRAMD4,GRAP2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IGLL3P,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284889,LOC284933,LOC339666,LOC388906,LOC391322,LOC400927,LOC730668,LRP5L,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MIAT,MICALL1,MIF,MIR1249,MIR1281,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OSBP2,OSM,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L9P,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SERHL,SERHL2,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC35E4,SLC5A1,SLC5A4,SMC1B,SMCR7L,SMTN,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TCF20,TCN2,TEF,TEX33,TFIP11,THOC5,TIMP3,TMEM184B,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TPST2,TRIOBP,TRMU,TSPO,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUG1,TXN2,UPB1,UPK3A,UQCR10,WBP2NL,WNT7B,XBP1,XPNPEP3,XRCC6,YWHAH,ZC3H7B,ZMAT5,ZNRF3,ZNRF3-AS1 chr2 224240261 224240361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 24248712 24255017 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 24248713 24457052 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24255017 24279471 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 24257991 35049003 Substitutions and indels small cell lung cancer array-CGH 20016488 ADORA2A,ADRBK2,AP1B1,AP1B1P1,ASCC2,ASPHD2,BCRP3,BPIFC,C22orf13,C22orf24,C22orf28,C22orf31,C22orf42,C22orf45,CABIN1,CABP7,CCDC117,CCDC157,CHEK2,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXO7,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,HORMAD2,HPS4,HSCB,IGLL3P,INPP5J,KIAA1656,KIAA1671,KREMEN1,LARGE,LIF,LIMK2,LOC100128531,LOC100506195,LOC339666,LOC391322,LRP5L,MIAT,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3928,MIR4764,MIR548J,MN1,MORC2,MORC2-AS1,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L9P,PRR14L,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SFI1,SGSM1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,SYN3,TBC1D10A,TCN2,TFIP11,THOC5,TIMP3,TMEM211,TOP1P2,TPST2,TTC28,TTC28-AS1,TUG1,UPB1,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr2 224263 25928993 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACP1,ADAM17,ADCY3,ADI1,ALLC,APOB,ASAP2,ATAD2B,ATP6V1C2,C2orf43,C2orf44,C2orf48,C2orf50,CENPO,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNMT3A,DTNB,E2F6,EFR3B,FAM150B,FAM228A,FAM228B,FAM49A,FAM84A,FKBP1B,FLJ12334,FLJ33534,GDF7,GEN1,GREB1,GRHL1,HPCAL1,HS1BP3,IAH1,ID2,ITGB1BP1,ITSN2,KCNF1,KCNS3,KIDINS220,KLF11,KLHL29,LAPTM4A,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MATN3,MBOAT2,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4429,MIR4757,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NOL10,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,PDIA6,PFN4,POMC,PQLC3,PTRHD1,PUM2,PXDN,RAD51AP2,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SMC6,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TP53I3,TPO,TRAPPC12,TRIB2,TSSC1,TTC32,UBXN2A,VSNL1,WDR35,YWHAQ chr2 224263 70936133 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BMP10,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DBIL5P2,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,FAM136A,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO48,FEZ2,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NFU1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OTX1,OXER1,PAPOLG,PCBP1,PCBP1-AS1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SERTAD2,SF3B14,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,TGFA,THADA,THUMPD2,TIA1,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 224263 8819909 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACP1,ADI1,ALLC,CMPK2,COLEC11,FAM150B,LINC00299,LINC00487,LOC100505964,LOC100506054,LOC100506274,LOC150622,LOC339788,LOC339822,LOC400940,LOC727982,LOC730811,MYT1L,PXDN,RNASEH1,RNF144A,RNF144A-AS1,RPS7,RSAD2,SH3YL1,SNTG2,SOX11,TMEM18,TPO,TRAPPC12,TSSC1 chr22 24264815 27415461 LOH Normal High-resolution SNP genotyping 21211785 ADORA2A,ADRBK2,ASPHD2,BCRP3,C22orf13,C22orf45,CABIN1,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,FAM211B,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,HPS4,IGLL3P,KIAA1671,LOC100128531,LOC391322,LRP5L,MIAT,MIR548J,MYO18B,PIWIL3,POM121L10P,POM121L9P,SEZ6L,SGSM1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM211,TOP1P2,TPST2,UPB1 chr22 24279471 24311016 Gain Normal Birdsuite, version 1.5.2 22087296 DDTL,GSTT2,GSTT2B chr22 24285500 24444470 Gain and loss Pancreatic cancer SNP array 17952125 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr2 224287167 224292630 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 24290860 24455258 Gain or loss Breast cancer - 20668451 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24290860 24455258 Gain or loss Cancer - 20668451 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24290860 24455258 Gain or loss Lung cancer - 20668451 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24290860 24455258 Gain or loss Ovarian cancer - 20668451 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24290860 24455258 Gain or loss Pancreas cancer - 20668451 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24290860 24455258 Gain or loss Prostate cancer - 20668451 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24290861 24455238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24290861 24455238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 chr22 24300000 27900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADORA2A,ADRBK2,ASPHD2,BCRP3,C22orf13,C22orf45,CABIN1,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,FAM211B,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,HPS4,IGLL3P,KIAA1671,LOC100128531,LOC391322,LRP5L,MIAT,MIR548J,MYO18B,PIWIL3,POM121L10P,POM121L9P,SEZ6L,SGSM1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM211,TOP1P2,TPST2,UPB1 chr22 24300000 27900000 Copy number Breast cancer BAC array 16272173 ADORA2A,ADRBK2,ASPHD2,BCRP3,C22orf13,C22orf45,CABIN1,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,FAM211B,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,HPS4,IGLL3P,KIAA1671,LOC100128531,LOC391322,LRP5L,MIAT,MIR548J,MYO18B,PIWIL3,POM121L10P,POM121L9P,SEZ6L,SGSM1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM211,TOP1P2,TPST2,UPB1 chr22 24300000 27900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADORA2A,ADRBK2,ASPHD2,BCRP3,C22orf13,C22orf45,CABIN1,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,FAM211B,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,HPS4,IGLL3P,KIAA1671,LOC100128531,LOC391322,LRP5L,MIAT,MIR548J,MYO18B,PIWIL3,POM121L10P,POM121L9P,SEZ6L,SGSM1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM211,TOP1P2,TPST2,UPB1 chr22 24300000 35900000 Loss Cancer array-based techniques 21183584 ADORA2A,ADRBK2,AP1B1,AP1B1P1,ASCC2,ASPHD2,BCRP3,BPIFC,C22orf13,C22orf24,C22orf28,C22orf31,C22orf42,C22orf45,CABIN1,CABP7,CCDC117,CCDC157,CHEK2,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DEPDC5,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FAM211B,FBXO7,GAL3ST1,GAS2L1,GATSL3,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IGLL3P,INPP5J,ISX,KIAA1656,KIAA1671,KREMEN1,LARGE,LIF,LIMK2,LOC100128531,LOC100506195,LOC339666,LOC391322,LRP5L,MCM5,MIAT,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4764,MIR548J,MN1,MORC2,MORC2-AS1,MTFP1,MTMR3,MYO18B,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,POM121L10P,POM121L9P,PRR14L,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SFI1,SGSM1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SNRPD3,SPECC1L,SRRD,SUSD2,SYN3,TBC1D10A,TCN2,TFIP11,THOC5,TIMP3,TMEM211,TOM1,TOP1P2,TPST2,TTC28,TTC28-AS1,TUG1,UPB1,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 24300000 49691432 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ASCC2,ASPHD2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BCRP3,BIK,BPIFC,C1QTNF6,C22orf13,C22orf23,C22orf24,C22orf26,C22orf28,C22orf31,C22orf32,C22orf42,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC117,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHEK2,CN5H6.4,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM19A5,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT5,GRAMD4,GRAP2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IGLL3P,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC339666,LOC388906,LOC391322,LOC400927,LOC730668,LRP5L,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MIAT,MICALL1,MIR1249,MIR1281,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OSBP2,OSM,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L9P,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SERHL,SERHL2,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC35E4,SLC5A1,SLC5A4,SMC1B,SMCR7L,SMTN,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TCF20,TCN2,TEF,TEX33,TFIP11,THOC5,TIMP3,TMEM184B,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TPST2,TRIOBP,TRMU,TSPO,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUG1,TXN2,UPB1,UPK3A,UQCR10,WBP2NL,WNT7B,XBP1,XPNPEP3,XRCC6,YWHAH,ZC3H7B,ZMAT5,ZNRF3,ZNRF3-AS1 chr2 224325785 224410563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224325785 224410563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224331757 224398418 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 24367783 24369732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 224369531 224415033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 24373228 24375199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC391322 chr22 24376140 24384284 Deletion Cancer multiplex PCR 18056202 GSTT1 chr2 224378882 224379030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 224394846 224395562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 224395740 224395793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 24405006 26687674 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADORA2A,ADRBK2,BCRP3,C22orf13,C22orf45,CABIN1,CRYBB2,CRYBB2P1,CRYBB3,FAM211B,GGT1,GGT5,IGLL3P,KIAA1671,LOC100128531,LRP5L,MYO18B,PIWIL3,POM121L10P,POM121L9P,SEZ6L,SGSM1,SNRPD3,SPECC1L,SUSD2,TMEM211,TOP1P2,UPB1 chr2 224409274 242951149 Copy number Lung cancer paired-end sequencing 18438408 AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,C2orf83,CAB39,CAPN10,CCL20,CHRND,CHRNG,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CUL3,CXCR7,CXXC11,D2HGDH,DGKD,DIS3L2,DNAJB3,DNER,DOCK10,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FAM124B,FARP2,FBXO36,FLJ43879,GAL3ST2,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,IRS1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4439,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MIR548AR,MIR5702,MIR5703,MLPH,MRPL44,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NEU4,NGEF,NMUR1,NPPC,NYAP2,OR6B2,OR6B3,OTOS,PASK,PDCD1,PDE6D,PER2,PID1,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RHBDD1,RNPEPL1,SAG,SCARNA5,SCARNA6,SCG2,SCLY,SEPT2,SERPINE2,SH3BP4,SLC16A14,SLC19A3,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPHKAP,SPP2,STK25,THAP4,TIGD1,TM4SF20,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40,WDFY1,WDR69 chr2 224414129 224449128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 24425042 25011480 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADORA2A,C22orf13,C22orf45,CABIN1,FAM211B,GGT1,GGT5,POM121L9P,SNRPD3,SPECC1L,SUSD2,UPB1 chr22 24435589 24435686 Gain and loss Pancreatic cancer SNP array 17952125 CABIN1 chr22 24435600 24435690 Gain and loss Pancreatic cancer SNP array 17952125 CABIN1 chr22 24441008 24441136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CABIN1 chr22 24443742 26243615 Loss Prostate cancer Array CGH 18632612 ADORA2A,ADRBK2,BCRP3,C22orf13,C22orf45,CABIN1,CRYBB2,CRYBB2P1,CRYBB3,FAM211B,GGT1,GGT5,IGLL3P,KIAA1671,LOC100128531,LRP5L,MYO18B,PIWIL3,POM121L10P,POM121L9P,SGSM1,SNRPD3,SPECC1L,SUSD2,TMEM211,TOP1P2,UPB1 chr2 224447231 224527768 Gain and loss Pancreatic cancer SNP array 17952125 SCG2 chr2 224448309 224518296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCG2 chr2 224448309 224518296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCG2 chr22 24459201 24459301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CABIN1 chr22 24462674 24751561 Gain and loss Pancreatic cancer SNP array 17952125 CABIN1,GGT5,POM121L9P,SPECC1L,SUSD2 chr22 24468120 24757007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CABIN1,GGT5,POM121L9P,SPECC1L,SUSD2 chr22 24468120 24757007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CABIN1,GGT5,POM121L9P,SPECC1L,SUSD2 chr22 24475501 24575500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CABIN1 chr2 224485100 224485189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 224509215 228513887 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 AGFG1,AP1S3,C2orf83,COL4A3,COL4A4,CUL3,DOCK10,FAM124B,IRS1,LOC646736,MFF,MIR4439,MIR548AR,MIR5702,MIR5703,MRPL44,NYAP2,RHBDD1,SERPINE2,TM4SF20,WDFY1 chr2 224509215 228513887 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-337K arrays 21546498 AGFG1,AP1S3,C2orf83,COL4A3,COL4A4,CUL3,DOCK10,FAM124B,IRS1,LOC646736,MFF,MIR4439,MIR548AR,MIR5702,MIR5703,MRPL44,NYAP2,RHBDD1,SERPINE2,TM4SF20,WDFY1 chr22 24511164 24519984 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CABIN1 chr2 224511177 224511256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 224513000 224633661 Deletion Normal Affymetrix 6.0 microarrays 20967226 AP1S3 chr22 24530008 24530108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CABIN1 chr2 224530364 224540675 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 224530378 224540668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224530378 224540668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224548073 224612249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224548073 224612249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 24561951 24892140 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADORA2A,C22orf45,CABIN1,GGT5,POM121L9P,SPECC1L,SUSD2,UPB1 chr2 224565571 224635553 Gain and loss Pancreatic cancer SNP array 17952125 AP1S3 chr22 24577902 24577965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUSD2 chr2 224577925 242221648 Gain Prostate cancer Array CGH 18632612 AGAP1,AGFG1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AP1S3,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,B3GNT7,C2orf54,C2orf57,C2orf72,C2orf82,C2orf83,CAB39,CAPN10,CCL20,CHRND,CHRNG,COL4A3,COL4A4,COL6A3,COPS7B,COPS8,CUL3,CXCR7,DGKD,DIS3L2,DNAJB3,DNER,DOCK10,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FAM124B,FBXO36,FLJ43879,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,INPP5D,IQCA1,IRS1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC646736,LRRFIP1,MFF,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4439,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MIR548AR,MIR5702,MIR5703,MLPH,MRPL44,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NGEF,NMUR1,NPPC,NYAP2,OR6B2,OR6B3,OTOS,PASK,PDE6D,PER2,PID1,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RHBDD1,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SERPINE2,SH3BP4,SLC16A14,SLC19A3,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPHKAP,SPP2,TIGD1,TM4SF20,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40,WDFY1,WDR69 chr22 24582366 24582466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUSD2 chr22 24624368 24624368 Copy number Prostate cancer Illumina GA II sequencer 21307934 GGT5 chr2 224647639 224657929 Gain and loss Pancreatic cancer SNP array 17952125 AP1S3 chr2 224665384 224729498 Gain and loss Pancreatic cancer SNP array 17952125 AP1S3 chr22 24684577 24684793 Gain and loss Pancreatic cancer SNP array 17952125 SPECC1L chr22 24689949 24690239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPECC1L chr22 24690023 24690239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPECC1L chr22 24714416 24714566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPECC1L chr2 22473410 22473527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 22476899 22476994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 224782182 224782282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY1 chr22 24795955 25481673 LOH Normal High-resolution SNP genotyping 21211785 ADORA2A,BCRP3,C22orf13,C22orf45,FAM211B,GGT1,KIAA1671,PIWIL3,POM121L10P,SGSM1,SNRPD3,SPECC1L,TMEM211,TOP1P2,UPB1 chr2 224802684 224802784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDFY1 chr22 24812383 24812468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPECC1L chr2 224812423 224812517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 24885823 24919485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C22orf45,UPB1 chr22 24889994 25114513 Gain and loss Pancreatic cancer SNP array 17952125 BCRP3,C22orf13,C22orf45,FAM211B,GGT1,POM121L10P,SNRPD3,UPB1 chr22 24895440 25108010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCRP3,C22orf13,FAM211B,GGT1,POM121L10P,SNRPD3,UPB1 chr22 24895440 25108010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCRP3,C22orf13,FAM211B,GGT1,POM121L10P,SNRPD3,UPB1 chr2 224900000 225800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CUL3,DOCK10,FAM124B,SERPINE2 chr2 224904592 224904660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 24909958 24922430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UPB1 chr2 224912090 225738376 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CUL3,DOCK10,FAM124B chr2 224922615 224922689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 224928174 224928712 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 224951659 224975046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224951659 224975046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 224981702 224981814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 225001197 225002177 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 225043113 225158358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 225043113 225158358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 225044553 225738376 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CUL3,DOCK10,FAM124B chr22 25064771 25064867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 25065525 25087126 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 225070355 225092256 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 25075802 25175254 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PIWIL3,TOP1P2 chr2 225079952 225079952 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr22 25111175 25111302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 25116621 25116748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIWIL3 chr22 25138800 25138821 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 PIWIL3 chr22 25148037 25149159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIWIL3 chr22 25149856 25164125 Gain and loss Pancreatic cancer SNP array 17952125 PIWIL3,TOP1P2 chr22 25153756 25154123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PIWIL3 chr22 25155239 25169557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIWIL3,TOP1P2 chr22 25155239 25169557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIWIL3,TOP1P2 chr2 225160374 225275619 Gain and loss Pancreatic cancer SNP array 17952125 FAM124B chr22 25172000 25204378 Gain and loss Pancreatic cancer SNP array 17952125 SGSM1 chr22 25177446 25209820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25177446 25209820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr2 225193746 225193846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 25204411 25212451 Gain and loss Pancreatic cancer SNP array 17952125 SGSM1 chr22 25209846 25217897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25209846 25217897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25211745 25233004 Gain and loss Pancreatic cancer SNP array 17952125 SGSM1 chr22 25217191 25238471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25217191 25238471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25221515 25221650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SGSM1 chr22 25223053 25354450 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SGSM1,TMEM211 chr22 25246266 25310643 Gain and loss Pancreatic cancer SNP array 17952125 SGSM1 chr22 25251712 25322681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25251712 25322681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25251830 27941420 Deletion Breast cancer FISH 17142309 ADRBK2,ASPHD2,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,HPS4,IGLL3P,KIAA1671,LOC100128531,LRP5L,MIAT,MIR548J,MYO18B,SEZ6L,SGSM1,SRRD,TFIP11,TMEM211,TPST2 chr22 25261211 25261290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGSM1 chr2 22526863 22526932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 25281046 25281681 Gain and loss Pancreatic cancer SNP array 17952125 SGSM1 chr22 25281178 25281289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25286492 25287054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr22 25286492 25287054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM1 chr2 225289948 225319461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 225313254 225313371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 25319916 25338592 Gain and loss Pancreatic cancer SNP array 17952125 SGSM1,TMEM211 chr22 25325362 25344038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM211 chr22 25325362 25344038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM211 chr2 225338051 225615574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CUL3 chr2 225338051 225615574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CUL3 chr22 25342482 25351186 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 25347928 25356635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 25347928 25356635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 25370853 25371300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 25393656 25398617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22542015 22543447 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 225455313 225732596 Gain and loss Pancreatic cancer SNP array 17952125 DOCK10 chr22 25468463 25468550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1671 chr2 225469900 225470000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 25481555 25481634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1671 chr22 25496201 25501400 Deletion Glioma mate-paired sequence 20126413 KIAA1671,LOC100128531 chr22 25498067 25499792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1671,LOC100128531 chr22 25504934 25504997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1671,LOC100128531 chr2 225507067 225507128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 25531099 25531164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1671 chr22 25534141 25534239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1671 chr2 225542485 225548790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 25549881 26292718 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADRBK2,CRYBB2,CRYBB2P1,CRYBB3,IGLL3P,KIAA1671,LRP5L,MYO18B chr22 25551587 25551687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1671 chr2 225589542 225589644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 225591449 225591608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 25604450 25604550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 25612872 25613511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 225624328 225624389 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 225627956 225628045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 225640665 225640745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK10 chr2 225641431 225641531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK10 chr22 25678422 25678517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 225686335 225686609 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 DOCK10 chr2 225695027 225695097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK10 chr22 25718110 25730447 Gain Autism qPCR 20531469 NOT_FOUND chr2 225746401 225750300 Deletion Glioma mate-paired sequence 20126413 DOCK10 chr2 225747827 225748063 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DOCK10 chr2 225747828 225748298 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DOCK10 chr2 225748444 225748682 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 DOCK10 chr22 25756404 25756511 Gain and loss Pancreatic cancer SNP array 17952125 LRP5L chr22 25756409 25756497 Gain and loss Pancreatic cancer SNP array 17952125 LRP5L chr22 25761850 25761954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRP5L chr2 225774326 225774493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK10 chr22 25795820 25795920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 225800000 230700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGFG1,C2orf83,CCL20,COL4A3,COL4A4,DNER,DOCK10,IRS1,LOC646736,MFF,MIR4439,MIR548AR,MIR5702,MIR5703,NYAP2,PID1,RHBDD1,SLC19A3,SPHKAP,TM4SF20,TRIP12,WDR69 chr2 225800000 230700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGFG1,C2orf83,CCL20,COL4A3,COL4A4,DNER,DOCK10,IRS1,LOC646736,MFF,MIR4439,MIR548AR,MIR5702,MIR5703,NYAP2,PID1,RHBDD1,SLC19A3,SPHKAP,TM4SF20,TRIP12,WDR69 chr2 225800000 237000000 Loss Malignant fibrous histiocytomas aCGH 21085701 AGAP1,AGFG1,ALPI,ALPP,ALPPL2,ARL4C,ARMC9,ATG16L1,B3GNT7,C2orf57,C2orf72,C2orf82,C2orf83,CAB39,CCL20,CHRND,CHRNG,COL4A3,COL4A4,COPS7B,DGKD,DIS3L2,DNAJB3,DNER,DOCK10,ECEL1,ECEL1P2,EFHD1,EIF4E2,FBXO36,GIGYF2,GPR55,HJURP,HTR2B,INPP5D,IRS1,ITM2C,KCNJ13,LINC00471,LOC100286922,LOC151475,LOC151484,LOC348761,LOC646736,MFF,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4439,MIR4777,MIR5001,MIR548AR,MIR5702,MIR5703,MSL3P1,NCL,NEU2,NGEF,NMUR1,NPPC,NYAP2,PDE6D,PID1,PRSS56,PSMD1,PTMA,RHBDD1,SAG,SCARNA5,SCARNA6,SH3BP4,SLC16A14,SLC19A3,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPHKAP,SPP2,TIGD1,TM4SF20,TRIP12,TRPM8,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40,WDR69 chr2 225810027 226468155 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DOCK10,MIR4439,NYAP2 chr2 225810027 227496836 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DOCK10,LOC646736,MIR4439,MIR548AR,NYAP2 chr22 25820806 25855513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRYBB2P1 chr2 225850763 225850863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK10 chr22 25873780 25873875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 25900000 29600000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 ADRBK2,ASPHD2,C22orf31,CCDC117,CHEK2,CRYBA4,CRYBB1,HPS4,HSCB,KREMEN1,MIAT,MIR3199-1,MIR3199-2,MIR548J,MN1,MYO18B,PITPNB,SEZ6L,SRRD,TFIP11,TPST2,TTC28,TTC28-AS1,XBP1,ZNRF3,ZNRF3-AS1 chr22 25900000 29600000 Deletion Cat eye syndrome Array CGH 16708226 ADRBK2,ASPHD2,C22orf31,CCDC117,CHEK2,CRYBA4,CRYBB1,HPS4,HSCB,KREMEN1,MIAT,MIR3199-1,MIR3199-2,MIR548J,MN1,MYO18B,PITPNB,SEZ6L,SRRD,TFIP11,TPST2,TTC28,TTC28-AS1,XBP1,ZNRF3,ZNRF3-AS1 chr22 25900000 29600000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ADRBK2,ASPHD2,C22orf31,CCDC117,CHEK2,CRYBA4,CRYBB1,HPS4,HSCB,KREMEN1,MIAT,MIR3199-1,MIR3199-2,MIR548J,MN1,MYO18B,PITPNB,SEZ6L,SRRD,TFIP11,TPST2,TTC28,TTC28-AS1,XBP1,ZNRF3,ZNRF3-AS1 chr22 25900000 37600000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ADRBK2,AP1B1,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ASCC2,ASPHD2,BPIFC,C1QTNF6,C22orf24,C22orf28,C22orf31,C22orf42,CABP7,CACNG2,CCDC117,CCDC157,CHEK2,CRYBA4,CRYBB1,CSF2RB,DEPDC5,DRG1,DUSP18,EIF3D,EIF4ENIF1,EMID1,EWSR1,FBXO7,FOXRED2,GAL3ST1,GAS2L1,GATSL3,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IL2RB,INPP5J,ISX,KCTD17,KIAA1656,KREMEN1,LARGE,LIF,LIMK2,LOC100506195,LOC100506241,LOC339666,MB,MCM5,MIAT,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4764,MIR548J,MN1,MORC2,MORC2-AS1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NCF4,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PLA2G3,PRR14L,PVALB,RASD2,RASL10A,RBFOX2,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SRRD,SYN3,TBC1D10A,TCN2,TEX33,TFIP11,THOC5,TIMP3,TMPRSS6,TOM1,TPST2,TST,TTC28,TTC28-AS1,TUG1,TXN2,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 25900000 37600000 Copy number Schizophrenia References 19521646 ADRBK2,AP1B1,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ASCC2,ASPHD2,BPIFC,C1QTNF6,C22orf24,C22orf28,C22orf31,C22orf42,CABP7,CACNG2,CCDC117,CCDC157,CHEK2,CRYBA4,CRYBB1,CSF2RB,DEPDC5,DRG1,DUSP18,EIF3D,EIF4ENIF1,EMID1,EWSR1,FBXO7,FOXRED2,GAL3ST1,GAS2L1,GATSL3,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IL2RB,INPP5J,ISX,KCTD17,KIAA1656,KREMEN1,LARGE,LIF,LIMK2,LOC100506195,LOC100506241,LOC339666,MB,MCM5,MIAT,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4764,MIR548J,MN1,MORC2,MORC2-AS1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NCF4,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PLA2G3,PRR14L,PVALB,RASD2,RASL10A,RBFOX2,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SRRD,SYN3,TBC1D10A,TCN2,TEX33,TFIP11,THOC5,TIMP3,TMPRSS6,TOM1,TPST2,TST,TTC28,TTC28-AS1,TUG1,TXN2,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 25900000 37600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ADRBK2,AP1B1,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ASCC2,ASPHD2,BPIFC,C1QTNF6,C22orf24,C22orf28,C22orf31,C22orf42,CABP7,CACNG2,CCDC117,CCDC157,CHEK2,CRYBA4,CRYBB1,CSF2RB,DEPDC5,DRG1,DUSP18,EIF3D,EIF4ENIF1,EMID1,EWSR1,FBXO7,FOXRED2,GAL3ST1,GAS2L1,GATSL3,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IL2RB,INPP5J,ISX,KCTD17,KIAA1656,KREMEN1,LARGE,LIF,LIMK2,LOC100506195,LOC100506241,LOC339666,MB,MCM5,MIAT,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4764,MIR548J,MN1,MORC2,MORC2-AS1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NCF4,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PLA2G3,PRR14L,PVALB,RASD2,RASL10A,RBFOX2,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SRRD,SYN3,TBC1D10A,TCN2,TEX33,TFIP11,THOC5,TIMP3,TMPRSS6,TOM1,TPST2,TST,TTC28,TTC28-AS1,TUG1,TXN2,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 25900000 37600000 Deletion Schizophrenia References 18990708 ADRBK2,AP1B1,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ASCC2,ASPHD2,BPIFC,C1QTNF6,C22orf24,C22orf28,C22orf31,C22orf42,CABP7,CACNG2,CCDC117,CCDC157,CHEK2,CRYBA4,CRYBB1,CSF2RB,DEPDC5,DRG1,DUSP18,EIF3D,EIF4ENIF1,EMID1,EWSR1,FBXO7,FOXRED2,GAL3ST1,GAS2L1,GATSL3,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IL2RB,INPP5J,ISX,KCTD17,KIAA1656,KREMEN1,LARGE,LIF,LIMK2,LOC100506195,LOC100506241,LOC339666,MB,MCM5,MIAT,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4764,MIR548J,MN1,MORC2,MORC2-AS1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NCF4,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PLA2G3,PRR14L,PVALB,RASD2,RASL10A,RBFOX2,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SRRD,SYN3,TBC1D10A,TCN2,TEX33,TFIP11,THOC5,TIMP3,TMPRSS6,TOM1,TPST2,TST,TTC28,TTC28-AS1,TUG1,TXN2,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 25900000 51304566 Amplification Hepatocellular carcinoma Array CGH 16750200 A4GALT,ACO2,ACR,ADM2,ADRBK2,ADSL,ALG12,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ASCC2,ASPHD2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BPIFC,BRD1,C1QTNF6,C22orf23,C22orf24,C22orf26,C22orf28,C22orf31,C22orf32,C22orf34,C22orf42,C22orf46,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC117,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHEK2,CHKB,CHKB-CPT1B,CN5H6.4,CPT1B,CRELD2,CRYBA4,CRYBB1,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HDAC10,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,IFT27,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KLHDC7B,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC339666,LOC388906,LOC400927,LOC730668,LOC90834,MAFF,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MIAT,MICALL1,MIOX,MIR1249,MIR1281,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MN1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OSBP2,OSM,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PIM3,PISD,PITPNB,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PPP6R2,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RABL2B,RAC2,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SBF1,SCO2,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SERHL,SERHL2,SEZ6L,SF3A1,SFI1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A17,SLC35E4,SLC5A1,SLC5A4,SMC1B,SMCR7L,SMTN,SNORD125,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TCF20,TCN2,TEF,TEX33,TFIP11,THOC5,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TPST2,TRABD,TRIOBP,TRMU,TSPO,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBGCP6,TUG1,TXN2,TYMP,UPK3A,UQCR10,WBP2NL,WNT7B,XBP1,XPNPEP3,XRCC6,YWHAH,ZBED4,ZC3H7B,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 25947245 25947294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 25954660 25954760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 225958897 225958987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 25969944 25970026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADRBK2 chr2 225971774 225971874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 225973608 226226978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 225973608 226226978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 225974087 225974187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 2259865 2259945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYT1L chr2 226031240 226031335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 226031506 226031629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 226085450 226085521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 226091207 226344239 Gain and loss Pancreatic cancer SNP array 17952125 NYAP2 chr22 26099847 26099902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADRBK2 chr22 26118507 26120718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADRBK2 chr22 26129001 26522500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYO18B chr2 226162246 226171321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 226227497 226227596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 26250112 26828858 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ASPHD2,MYO18B,SEZ6L chr22 26298919 26299019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO18B chr2 226308131 226308225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NYAP2 chr22 26317545 26317635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO18B chr22 26359990 26360090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYO18B chr22 26391943 26766025 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 MYO18B,SEZ6L chr2 226432070 226432140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NYAP2 chr2 226443240 226443851 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NYAP2 chr22 26468819 26522040 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr22 26468820 26521085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 26474264 26527486 Copy number Lung cancer - 20668451 NOT_FOUND chr22 26474264 26527486 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 26474264 26527486 Gain or loss Cancer - 20668451 NOT_FOUND chr22 26474264 26527486 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 26474264 26527486 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 26474264 26527486 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 26474264 26527486 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 26474266 26527486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 26474266 26527486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 26496651 26496718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 26522501 26531500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 26531170 26563579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 26531501 26573000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEZ6L chr22 26567077 27787140 LOH Normal High-resolution SNP genotyping 21211785 ASPHD2,CRYBA4,CRYBB1,HPS4,MIAT,MIR548J,SEZ6L,SRRD,TFIP11,TPST2 chr22 26567077 28592746 LOH Normal High-resolution SNP genotyping 21211785 ASPHD2,CRYBA4,CRYBB1,HPS4,MIAT,MIR3199-1,MIR3199-2,MIR548J,MN1,PITPNB,SEZ6L,SRRD,TFIP11,TPST2,TTC28,TTC28-AS1 chr22 26572214 26639772 Gain and loss Pancreatic cancer SNP array 17952125 SEZ6L chr22 26577658 26645255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEZ6L chr22 26577658 26645255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEZ6L chr2 226610779 226623080 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 26617192 26617292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEZ6L chr22 26644501 26646000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEZ6L chr2 226651509 226651609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 226663316 226670349 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 26672451 26955269 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1175K arrays 21546498 ASPHD2,HPS4,MIR548J,SEZ6L,SRRD,TFIP11,TPST2 chr22 26695126 31588112 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AP1B1,ASCC2,ASPHD2,C22orf31,CABP7,CCDC117,CCDC157,CHEK2,CRYBA4,CRYBB1,DUSP18,EMID1,EWSR1,GAL3ST1,GAS2L1,GATSL3,HORMAD2,HPS4,HSCB,INPP5J,KIAA1656,KREMEN1,LIF,MIAT,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3928,MIR548J,MN1,MORC2,MORC2-AS1,MTFP1,MTMR3,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PES1,PITPNB,PLA2G3,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEZ6L,SF3A1,SLC35E4,SMTN,SNORD125,SRRD,TBC1D10A,TCN2,TFIP11,THOC5,TPST2,TTC28,TTC28-AS1,TUG1,UQCR10,XBP1,ZMAT5,ZNRF3,ZNRF3-AS1 chr2 226701557 226979322 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr22 26701810 26827869 Gain and loss Pancreatic cancer SNP array 17952125 ASPHD2,SEZ6L chr22 26704004 27405853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASPHD2,CRYBA4,CRYBB1,HPS4,MIAT,MIR548J,SEZ6L,SRRD,TFIP11,TPST2 chr22 26704004 27405853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASPHD2,CRYBA4,CRYBB1,HPS4,MIAT,MIR548J,SEZ6L,SRRD,TFIP11,TPST2 chr22 26708001 26718000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEZ6L chr22 26713011 26729123 Gain and loss Pancreatic cancer SNP array 17952125 SEZ6L chr22 26718001 26752500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEZ6L chr22 26720918 26720987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEZ6L chr2 226725801 226726053 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 226727888 228860836 Gain and loss Pancreatic cancer SNP array 17952125 AGFG1,C2orf83,CCL20,COL4A3,COL4A4,IRS1,LOC646736,MFF,MIR5702,MIR5703,RHBDD1,SLC19A3,SPHKAP,TM4SF20,WDR69 chr2 226753480 226753684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 226753681 226753891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 226753725 226753825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 226763677 226763772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 22677269 22677329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 26776695 26776983 Gain and loss Pancreatic cancer SNP array 17952125 SEZ6L chr22 26782141 26782429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 26782143 26782441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 26805390 26806082 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 26842142 26842230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 226873606 226879267 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 226873669 226879413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 26911534 26911612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 26945773 30145210 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.21 20877625 AP1B1,C22orf31,CABP7,CCDC117,CHEK2,CRYBA4,CRYBB1,EMID1,EWSR1,GAS2L1,HSCB,KREMEN1,MIAT,MIR3199-1,MIR3199-2,MIR3653,MIR548J,MN1,NEFH,NF2,NIPSNAP1,PITPNB,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,SNORD125,THOC5,TPST2,TTC28,TTC28-AS1,XBP1,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 26953299 26953364 Gain and loss Pancreatic cancer SNP array 17952125 TPST2 chr22 26958745 26958810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPST2 chr2 22696954 24230135 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATAD2B,KLHL29,UBXN2A chr2 226982414 227012007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC646736 chr22 26997612 26997816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRYBB1 chr2 227011663 227043856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC646736 chr2 227019324 227019416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC646736 chr22 27024296 27024390 Gain and loss Pancreatic cancer SNP array 17952125 CRYBA4 chr22 27024296 27024391 Gain and loss Pancreatic cancer SNP array 17952125 CRYBA4 chr22 27029742 27029838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227039472 227039564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC646736 chr2 227041101 227045300 Deletion Glioma mate-paired sequence 20126413 LOC646736 chr2 227048480 227048580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227051032 227054312 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 227062380 227062480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 270881 1274355 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr22 27089257 27089346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227104814 227104874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 227116810 227116868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27119828 27119915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227160332 227160417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 22719194 22719294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 27196758 28095456 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1176K arrays 21546498 NOT_FOUND chr2 227223526 227224058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 227234071 227234129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 22725791 22902693 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 22725791 23031671 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 227270895 227272177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 27279001 27280000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27299346 27332029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 227304276 227371750 Copy number Lung cancer - 20668451 NOT_FOUND chr2 227304276 227371750 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 227304276 227371750 Gain or loss Cancer - 20668451 NOT_FOUND chr2 227304276 227371750 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 227304276 227371750 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 227304276 227371750 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 227304276 227371750 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 227308182 227372719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227308182 227372719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27326082 27326208 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27331528 27331654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22734812 22734912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 27350094 27350372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27363521 27363812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 227368001 227372500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27368969 27369258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227372685 227372780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227389793 227389962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 27392137 27396091 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 27392137 27396091 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 227399720 227399938 Gain Normal 244K array 17666407 NOT_FOUND chr22 27408284 27462964 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr22 27408285 27465251 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 227409017 227572161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5702 chr2 227409017 227572161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5702 chr22 27413730 27467822 Copy number Breast cancer MLPA 16551709 NOT_FOUND chr22 27413730 27467822 Deletion Breast cancer - 17634833 NOT_FOUND chr22 27413730 27467822 Deletion Cancer Array hybridization,GeneChip Human Mapping 250K,Affymetrix GeneChip Human Mapping 500k,Agilent Human 105K,PCR-based exon re-sequencing and RT-PCR,Fluorescence In Situ Hybridization (FISH) 20215515 NOT_FOUND chr22 27413730 27467822 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 27413730 27467822 Gain or loss Cancer - 20668451 NOT_FOUND chr22 27413730 27467822 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 27413730 27467822 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 27413730 27467822 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 27413730 27467822 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 27413731 27467822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27413731 27467822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27415461 27437884 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 227415718 227415796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227425443 227489980 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27437884 28158003 LOH Normal High-resolution SNP genotyping 21211785 MN1 chr2 227455124 227455423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227456565 227501904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 27462573 27478027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 227467355 227467455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 27468019 27483503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27468019 27483503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227472804 227473036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227473028 227473145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227473033 227473126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 27493256 27509836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27498702 27515282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27498702 27515282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27499420 27632906 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr22 27515103 27521114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27516711 27516811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 27520545 27526560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27520545 27526560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227526278 227689422 Gain and loss Pancreatic cancer SNP array 17952125 IRS1 chr22 27531218 27531284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227541949 227542082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27561881 27562125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227575671 227737073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRS1,RHBDD1 chr2 227575671 227737073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRS1,RHBDD1 chr22 27589718 27613489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 27604444 27778029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 227607505 227607598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IRS1 chr2 227608455 227608535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IRS1 chr22 27609890 27610368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27609890 27783475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227619200 227620346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IRS1 chr2 227653740 227687344 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IRS1 chr2 227654829 227654929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IRS1 chr2 227659210 227659339 Gain and loss Pancreatic cancer SNP array 17952125 IRS1 chr2 227666110 227666205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 27669058 27669132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 27683809 27683909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227695412 227811399 Gain and loss Pancreatic cancer SNP array 17952125 RHBDD1 chr2 227697203 227697318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27709867 27709964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 227724338 227724438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RHBDD1 chr2 227737525 227887752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL4A4,RHBDD1 chr2 227737525 227887752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL4A4,RHBDD1 chr2 227745211 227745309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RHBDD1 chr22 27747012 27747453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27752458 27752899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27774001 27776500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27776501 27797000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27778364 27778464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 27779214 27782461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27780183 27783442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27780183 27783442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27784660 27787907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27784660 27787907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27793660 27888875 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 22779501 22780500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27797001 27800500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27799066 27893094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27799066 27893094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27799105 27872808 Copy number Lung cancer - 20668451 NOT_FOUND chr22 27799105 27872808 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 27799105 27872808 Gain or loss Cancer - 20668451 NOT_FOUND chr22 27799105 27872808 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 27799105 27872808 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 27799105 27872808 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 27799105 27872808 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 22780501 22784000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27820520 27820638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27854556 27854660 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27854556 27854662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 227854786 228004657 Gain and loss Pancreatic cancer SNP array 17952125 COL4A4,RHBDD1 chr2 227854893 227854999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RHBDD1 chr22 27860002 27860108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27869501 27872500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27872501 27921500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 227883606 227883706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A4 chr2 227898199 227930793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL4A4 chr2 227898199 227930793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL4A4 chr22 27900000 30500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AP1B1,ASCC2,C22orf31,CABP7,CCDC117,CHEK2,EMID1,EWSR1,GAS2L1,HORMAD2,HSCB,KREMEN1,MIR3199-1,MIR3199-2,MIR3653,MN1,MTMR3,NEFH,NF2,NIPSNAP1,PITPNB,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,SNORD125,THOC5,TTC28,TTC28-AS1,UQCR10,XBP1,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 27900000 30500000 Loss Non-small cell lung cancer dChip 21829676 AP1B1,ASCC2,C22orf31,CABP7,CCDC117,CHEK2,EMID1,EWSR1,GAS2L1,HORMAD2,HSCB,KREMEN1,MIR3199-1,MIR3199-2,MIR3653,MN1,MTMR3,NEFH,NF2,NIPSNAP1,PITPNB,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,SNORD125,THOC5,TTC28,TTC28-AS1,UQCR10,XBP1,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 27900000 35900000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AP1B1,AP1B1P1,ASCC2,BPIFC,C22orf24,C22orf28,C22orf31,C22orf42,CABP7,CCDC117,CCDC157,CHEK2,DEPDC5,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FBXO7,GAL3ST1,GAS2L1,GATSL3,HMGXB4,HMOX1,HORMAD2,HSCB,INPP5J,ISX,KIAA1656,KREMEN1,LARGE,LIF,LIMK2,LOC100506195,LOC339666,MCM5,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4764,MN1,MORC2,MORC2-AS1,MTFP1,MTMR3,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PLA2G3,PRR14L,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SYN3,TBC1D10A,TCN2,THOC5,TIMP3,TOM1,TTC28,TTC28-AS1,TUG1,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 27900000 35900000 Gain Malignant fibrous histiocytomas aCGH 21085701 AP1B1,AP1B1P1,ASCC2,BPIFC,C22orf24,C22orf28,C22orf31,C22orf42,CABP7,CCDC117,CCDC157,CHEK2,DEPDC5,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FBXO7,GAL3ST1,GAS2L1,GATSL3,HMGXB4,HMOX1,HORMAD2,HSCB,INPP5J,ISX,KIAA1656,KREMEN1,LARGE,LIF,LIMK2,LOC100506195,LOC339666,MCM5,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4764,MN1,MORC2,MORC2-AS1,MTFP1,MTMR3,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PLA2G3,PRR14L,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SYN3,TBC1D10A,TCN2,THOC5,TIMP3,TOM1,TTC28,TTC28-AS1,TUG1,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 27900000 47000000 Loss Gastrointestinal stromal cancer array CGH 16982739 A4GALT,ACO2,ADSL,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ASCC2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf26,C22orf28,C22orf31,C22orf32,C22orf42,C22orf46,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC117,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CHADL,CHEK2,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM227A,FAM83F,FBLN1,FBXO7,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GRAP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,HORMAD2,HSCB,IFT27,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC339666,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3199-1,MIR3199-2,MIR3200,MIR33A,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4762,MIR4763,MIR4764,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MTFP1,MTMR3,MYH9,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OSBP2,OSM,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PISD,PITPNB,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SERHL,SERHL2,SF3A1,SFI1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC35E4,SLC5A1,SLC5A4,SMC1B,SMCR7L,SMTN,SNORD125,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYN3,SYNGR1,TAB1,TBC1D10A,TCF20,TCN2,TEF,TEX33,THOC5,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUG1,TXN2,UPK3A,UQCR10,WBP2NL,WNT7B,XBP1,XPNPEP3,XRCC6,YWHAH,ZC3H7B,ZMAT5,ZNRF3,ZNRF3-AS1 chr2 227901750 227902565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL4A4 chr2 227902742 227903583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL4A4 chr2 227908674 227908769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A4 chr22 27912263 27912350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27917709 27917796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27921501 27995000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 27926507 27980140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27931901 27985586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27931901 27985586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 227935120 227952264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL4A4 chr2 227935120 227952264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL4A4 chr22 27963087 27965390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 227977103 227978247 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 COL4A4 chr22 27980398 27988468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27985866 27993937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27985866 27993937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27988836 28021059 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr22 27988837 28021058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 27988879 28007679 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr22 27994016 28026515 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 27994016 28026515 Gain or loss Cancer - 20668451 NOT_FOUND chr22 27994016 28026515 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 27994016 28026515 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 27994016 28026515 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 27994016 28026515 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 27994016 28026515 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr22 27994016 28026515 Translate Acute lymphoblastic leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr22 27994016 28026515 Translate Desmoplastic small round cell tumor Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr22 27994016 28026515 Translate Ewing's sarcoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr22 27994017 28026515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 27994017 28026515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 228003715 228003865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A4 chr2 228015472 228048048 Gain and loss Pancreatic cancer SNP array 17952125 COL4A3,COL4A4 chr2 228018953 228019052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A4 chr22 28027501 28086000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 28027551 28033328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 28032997 28038774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 28032997 28038774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 28033477 28036299 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 28038921 28041748 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 28038921 28041748 Gain or loss Cancer - 20668451 NOT_FOUND chr22 28038921 28041748 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 28038921 28041748 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 28038921 28041748 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 28038921 28041748 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 28038922 28041748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 28038922 28041748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 228045112 228130548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL4A3 chr2 228045112 228130548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL4A3 chr22 28048223 28109123 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 228052381 228069525 Gain and loss Pancreatic cancer SNP array 17952125 COL4A3 chr22 28053669 28114569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 28053669 28114569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 28083488 28083588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28089121 28089189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28108705 28108780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28109011 28109110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28130631 28130714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28137708 28137808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28145144 28149182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MN1 chr22 28146426 28146526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MN1 chr22 28153358 28162998 Gain and loss Pancreatic cancer SNP array 17952125 MN1 chr22 28158003 28168685 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MN1 chr2 228162547 228247809 Gain and loss Pancreatic cancer SNP array 17952125 COL4A3,MFF,TM4SF20 chr22 28164572 28168444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MN1 chr22 28164572 28168444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MN1 chr22 28168882 28168946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MN1 chr2 228170383 228170457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL4A3 chr22 28182001 28209500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MN1 chr2 228183051 228206280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MFF chr2 228183051 228206280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFF chr22 28193409 35763151 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AP1B1,AP1B1P1,ASCC2,BPIFC,C22orf24,C22orf28,C22orf31,C22orf42,CABP7,CCDC117,CCDC157,CHEK2,DEPDC5,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,FBXO7,GAL3ST1,GAS2L1,GATSL3,HMGXB4,HORMAD2,HSCB,INPP5J,ISX,KIAA1656,KREMEN1,LARGE,LIF,LIMK2,LOC100506195,LOC339666,MIR3199-1,MIR3199-2,MIR3200,MIR3653,MIR3909,MIR3928,MIR4764,MN1,MORC2,MORC2-AS1,MTFP1,MTMR3,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PITPNB,PLA2G3,PRR14L,RASL10A,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SNORD125,SYN3,TBC1D10A,TCN2,THOC5,TIMP3,TOM1,TTC28,TTC28-AS1,TUG1,UQCR10,XBP1,YWHAH,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 28200806 28211933 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 228204825 228204925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MFF chr22 28206219 28217275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 28206219 28217275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 28209501 28418000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3199-1,MIR3199-2,PITPNB,TTC28,TTC28-AS1 chr22 28211225 28211325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 228212747 234723089 Loss Wilms tumour 250K Genotyping Arrays 21544195 AGFG1,ALPI,ALPP,ALPPL2,ARMC9,ATG16L1,B3GNT7,C2orf57,C2orf72,C2orf82,C2orf83,CAB39,CCL20,CHRND,CHRNG,COPS7B,DGKD,DIS3L2,DNAJB3,DNER,ECEL1,ECEL1P2,EFHD1,EIF4E2,FBXO36,GIGYF2,GPR55,HTR2B,INPP5D,ITM2C,KCNJ13,LINC00471,LOC100286922,LOC151475,LOC151484,LOC348761,MFF,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4777,MIR5001,MIR5703,NCL,NEU2,NGEF,NMUR1,NPPC,PDE6D,PID1,PRSS56,PSMD1,PTMA,SAG,SCARNA5,SCARNA6,SLC16A14,SLC19A3,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPHKAP,TIGD1,TM4SF20,TRIP12,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40,WDR69 chr22 28216626 28216626 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr22 28226422 28274797 Gain and loss Pancreatic cancer SNP array 17952125 PITPNB chr22 28230752 28230797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28234155 28279736 Gain or loss Breast cancer - 20668451 PITPNB chr22 28234155 28279736 Gain or loss Cancer - 20668451 PITPNB chr22 28234155 28279736 Gain or loss Lung cancer - 20668451 PITPNB chr22 28234155 28279736 Gain or loss Ovarian cancer - 20668451 PITPNB chr22 28234155 28279736 Gain or loss Pancreas cancer - 20668451 PITPNB chr22 28234155 28279736 Gain or loss Prostate cancer - 20668451 PITPNB chr22 28234157 28279736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PITPNB chr22 28234157 28279736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNB chr2 228258169 228290989 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 NOT_FOUND chr2 228258171 228290989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 228258171 228290989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 28258773 28258873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITPNB chr22 28275354 28301798 Gain and loss Pancreatic cancer SNP array 17952125 PITPNB chr22 28280800 28307244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PITPNB chr22 28280800 28307244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PITPNB chr22 28285908 28443960 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MIR3199-1,MIR3199-2,PITPNB,TTC28,TTC28-AS1 chr2 228301615 228323306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 28324117 28419137 Gain and loss Pancreatic cancer SNP array 17952125 TTC28,TTC28-AS1 chr22 28324634 28357314 Amplification or deletion Cancer Array CGH 17440070 TTC28-AS1 chr22 28327011 28334929 Copy number Cancer CGH 20581869 TTC28-AS1 chr22 28329544 28424589 Deletion, loss Acoustic neuroma Affymetrix Genome-wide Human SNP Array 6.0 20824076 TTC28,TTC28-AS1 chr22 28329544 28424589 Deletion, loss Meningioma Affymetrix Genome-wide Human SNP Array 6.0 20824076 TTC28,TTC28-AS1 chr22 28329544 28424589 Gain or loss Breast cancer - 20668451 TTC28,TTC28-AS1 chr22 28329544 28424589 Gain or loss Cancer - 20668451 TTC28,TTC28-AS1 chr22 28329544 28424589 Gain or loss Lung cancer - 20668451 TTC28,TTC28-AS1 chr22 28329544 28424589 Gain or loss Ovarian cancer - 20668451 TTC28,TTC28-AS1 chr22 28329544 28424589 Gain or loss Pancreas cancer - 20668451 TTC28,TTC28-AS1 chr22 28329544 28424589 Gain or loss Prostate cancer - 20668451 TTC28,TTC28-AS1 chr22 28329563 28424583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28,TTC28-AS1 chr22 28329563 28424583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28,TTC28-AS1 chr2 228336024 228336112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 228350773 228350884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGFG1 chr2 228375432 228408231 Gain and loss Pancreatic cancer SNP array 17952125 AGFG1 chr2 228386802 228390516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGFG1 chr2 228386802 228390516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGFG1 chr22 28407057 28496470 Gain Stenocardia MACArray Karyo 94K BAC-chips 21860640 TTC28 chr22 28407057 28496470 Gain Vasospasm MACArray Karyo 94K BAC-chips 21860640 TTC28 chr22 28418001 28480500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC28 chr2 228430822 228430922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28440898 28452372 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr2 228443080 228443726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 228444014 228497301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf83 chr2 228444014 228497301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf83 chr22 28446343 28457820 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 TTC28 chr22 28446344 28457818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28446344 28457818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28450357 28767355 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 TTC28 chr22 28451501 28627601 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr2 228453285 228453373 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 22845453 22845528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28456948 28544090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28456948 28544090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28479301 28479400 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28479301 28479401 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28480501 28586000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC28 chr22 28484747 28484848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28487906 28490486 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28490577 28510742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC28 chr22 28493358 28496402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28493358 28496402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28493537 28495665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC28 chr2 228501292 228743575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCL20,SLC19A3,WDR69 chr2 228504063 228507777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 228507853 228507982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28509157 28558808 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28514603 28564265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28514603 28564265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr2 228530395 228530495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 28544393 28544448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC28 chr2 228552919 228754605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCL20,SLC19A3,WDR69 chr2 228552919 228754605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCL20,SLC19A3,WDR69 chr2 228560300 228560775 Gain and loss Pancreatic cancer SNP array 17952125 SLC19A3 chr2 228561275 228614562 Gain and loss Pancreatic cancer SNP array 17952125 SLC19A3 chr2 228575519 228607089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC19A3 chr22 28582969 28624458 Allelic imbalance Normal High-resolution SNP genotyping 21211785 TTC28 chr2 228595917 229240353 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCL20,SPHKAP,WDR69 chr22 28603753 28748423 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28609158 28756855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28609158 28756855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28615922 28617088 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28620130 28620236 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28624458 30885742 LOH Normal High-resolution SNP genotyping 21211785 AP1B1,ASCC2,C22orf31,CABP7,CCDC117,CCDC157,CHEK2,EMID1,EWSR1,GAS2L1,GATSL3,HORMAD2,HSCB,KIAA1656,KREMEN1,LIF,MIR3653,MTFP1,MTMR3,NEFH,NF2,NIPSNAP1,OSM,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SF3A1,SNORD125,TBC1D10A,THOC5,TTC28,UQCR10,XBP1,ZMAT5,ZNRF3,ZNRF3-AS1 chr22 28625576 28625682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28627813 28629753 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 TTC28 chr22 28631271 28631395 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28631331 28631392 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28666311 28667194 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC28 chr22 28668762 28713451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC28 chr2 228670179 228871917 Gain and loss Pancreatic cancer SNP array 17952125 CCL20,SPHKAP,WDR69 chr22 28670198 28670285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr2 22868464 22948733 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 228742703 228742809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR69 chr22 28748777 28751048 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28766819 28767736 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28771325 28791988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC28 chr22 28772265 28773182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28775819 28776053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC28 chr2 228780881 228780981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR69 chr22 28783933 28800372 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TTC28 chr22 28798908 28798979 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28801007 28897597 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28806163 28903064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28806163 28903064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28829206 28902143 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 TTC28 chr22 28831083 28831397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr2 228837219 228837319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 228840010 228840110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 228841812 229343369 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SPHKAP chr22 28857321 28857948 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr2 228859964 228860070 Gain and loss Pancreatic cancer SNP array 17952125 SPHKAP chr2 228859968 228860070 Gain and loss Pancreatic cancer SNP array 17952125 SPHKAP chr22 28862662 28863670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr2 228879096 228913572 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPHKAP chr22 28895832 28896035 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC28 chr2 228904891 228916959 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 SPHKAP chr22 28910162 29008873 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 TTC28 chr22 28927341 28927601 Gain Normal 244K array 17666407 TTC28 chr22 28930001 28967000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC28 chr22 28930039 29063249 Duplication Schizophrenia NimbleGen HD2 platform 21346763 TTC28 chr22 28944362 28944946 Loss Normal 244K array 17666407 TTC28 chr2 228950945 228951045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPHKAP chr22 28960995 28967302 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28966441 28972748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28966441 28972748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28966748 28967535 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28967001 28993500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC28 chr2 228970601 228978500 Deletion Glioma mate-paired sequence 20126413 SPHKAP chr2 228971645 228977255 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SPHKAP chr2 228972589 228976580 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPHKAP chr22 28983375 28987394 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 28988821 28992840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28988821 28992840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 28993501 29009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC28 chr22 29005662 29010076 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 29009001 29020000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC28 chr22 29011106 29015616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 29011106 29015616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 29012534 29047475 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 29014274 29014626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC28 chr22 29017982 29052927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 29017982 29052927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 29020001 29025000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC28 chr22 29025001 29095000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHEK2,TTC28 chr22 29030534 29075676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC28 chr22 29038888 29038961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC28 chr2 229043151 229043271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPHKAP chr22 29054724 29077457 Gain and loss Pancreatic cancer SNP array 17952125 TTC28 chr22 29057979 29082913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr22 29057979 29082913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC28 chr2 229065363 229065614 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 29067507 29067593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC28 chr2 229077701 229077784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29082624 29102818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHEK2 chr22 29082624 29102818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHEK2 chr22 29090033 29097282 Gain and loss Pancreatic cancer SNP array 17952125 CHEK2 chr22 29091857 29091858 Deletion Breast cancer - 20616022 CHEK2 chr22 29092633 29099332 Deletion Breast cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 CHEK2 chr22 29092633 29099332 Deletion Ovarian cancer combines CNV detection through high-resolution depth of coverage analysis with call confirmation through partially-mapped reads. 21486468 CHEK2 chr22 29094930 29095340 Gain and loss Pancreatic cancer SNP array 17952125 CHEK2 chr22 29095001 29113000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHEK2 chr22 29100334 29107856 Gain and loss Pancreatic cancer SNP array 17952125 CHEK2 chr22 29104801 29113302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHEK2 chr22 29104801 29113302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHEK2 chr22 29104802 29113302 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CHEK2 chr2 229111502 229112110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29113001 29123000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHEK2 chr2 229117452 229131044 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 29117487 29144382 Gain and loss Pancreatic cancer SNP array 17952125 CHEK2,HSCB chr22 29122933 29149828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHEK2,HSCB chr22 29123001 29124500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHEK2 chr22 29123007 29149826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHEK2,HSCB chr22 29123007 29149826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHEK2,HSCB chr22 29124501 29149000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHEK2,HSCB chr22 29141588 29141670 Gain and loss Pancreatic cancer SNP array 17952125 HSCB chr22 29146206 29149594 Gain and loss Pancreatic cancer SNP array 17952125 HSCB chr22 29147034 29147116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSCB chr22 29147034 29147137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSCB chr22 29149001 29153500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSCB chr22 29151720 29155041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HSCB chr22 29151720 29155041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HSCB chr22 29153501 29298500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC117,XBP1,ZNRF3 chr2 229157755 229160306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 29161531 29162231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29165824 29166305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 229172825 229173396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29173946 29198034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC117,XBP1 chr22 29173946 29198034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC117,XBP1 chr22 29179772 29192588 Gain and loss Pancreatic cancer SNP array 17952125 CCDC117,XBP1 chr2 229192734 229192858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 29201867 29202452 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29207307 29207904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29207307 29207904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29209454 29226252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29209616 29213345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29214900 29231682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29214900 29231682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29215062 29218791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 229229540 229229733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 229229777 229229961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29250465 29272669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29263125 29264624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29268862 29270070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29274661 29274761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29275178 29591124 Gain and loss Pancreatic cancer SNP array 17952125 C22orf31,KREMEN1,ZNRF3,ZNRF3-AS1 chr22 29280622 29300574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29280622 29300574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29284857 29857871 LOH Normal High-resolution SNP genotyping 21211785 AP1B1,C22orf31,EMID1,EWSR1,GAS2L1,KREMEN1,MIR3653,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,SNORD125,ZNRF3,ZNRF3-AS1 chr2 229290677 229290777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29297167 29327526 Gain and loss Pancreatic cancer SNP array 17952125 ZNRF3 chr22 29298501 29303000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNRF3 chr22 29302613 29333070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29302613 29333070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29303001 29360500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNRF3 chr22 29315676 29315728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNRF3 chr22 29318214 29318713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29327715 29347601 Gain and loss Pancreatic cancer SNP array 17952125 ZNRF3 chr22 29333139 29353047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29333139 29353047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr2 229343963 229344063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29356353 29368433 Gain and loss Pancreatic cancer SNP array 17952125 ZNRF3 chr22 29360501 29363000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNRF3 chr22 29361793 29389286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29361793 29389286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29363001 29420000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNRF3 chr22 29375467 29376233 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNRF3 chr22 29378038 29393872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr22 29378038 29393872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNRF3 chr2 22937929 22938245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22937931 22938155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29382133 29388426 Gain and loss Pancreatic cancer SNP array 17952125 ZNRF3 chr2 229410392 229410492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29415453 29628365 Gain and loss Pancreatic cancer SNP array 17952125 C22orf31,EMID1,KREMEN1,ZNRF3,ZNRF3-AS1 chr22 29415891 29415976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNRF3 chr22 29420001 29422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNRF3,ZNRF3-AS1 chr22 29420063 29633811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C22orf31,EMID1,KREMEN1,ZNRF3,ZNRF3-AS1 chr22 29420063 29633811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C22orf31,EMID1,KREMEN1,ZNRF3,ZNRF3-AS1 chr22 29422001 29528000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C22orf31,KREMEN1,ZNRF3,ZNRF3-AS1 chr2 229447359 229985388 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PID1 chr2 229465701 229469700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 229467533 229468151 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr2 229467553 229471907 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 22947101 23807300 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL29 chr2 229500776 229535457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 229507857 229507950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 229510969 229511001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29528001 29530000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KREMEN1 chr22 29530001 29586500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KREMEN1 chr22 29568185 29568269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 229583863 229737697 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 229584861 229589478 Loss Normal 244K array 17666407 NOT_FOUND chr22 29586501 29620000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMID1 chr2 229589931 229591646 Gain Normal 244K array 17666407 NOT_FOUND chr2 229591461 229591646 Loss or gain Normal 244K array 17666407 NOT_FOUND chr2 229593322 230189779 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PID1 chr2 229596936 229844301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 229596936 229844301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29600000 32200000 Copy number Autism Affymetrix 10K SNP arrays 17322880 AP1B1,ASCC2,CABP7,CCDC157,DEPDC5,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,GAL3ST1,GAS2L1,GATSL3,HORMAD2,INPP5J,KIAA1656,LIF,LIMK2,MIR3200,MIR3653,MIR3928,MORC2,MORC2-AS1,MTFP1,MTMR3,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PLA2G3,PRR14L,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SMTN,SNORD125,TBC1D10A,TCN2,THOC5,TUG1,UQCR10,ZMAT5 chr22 29600000 32200000 Copy number Neurofibromatosis type 2 References 19566914 AP1B1,ASCC2,CABP7,CCDC157,DEPDC5,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,GAL3ST1,GAS2L1,GATSL3,HORMAD2,INPP5J,KIAA1656,LIF,LIMK2,MIR3200,MIR3653,MIR3928,MORC2,MORC2-AS1,MTFP1,MTMR3,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PLA2G3,PRR14L,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SMTN,SNORD125,TBC1D10A,TCN2,THOC5,TUG1,UQCR10,ZMAT5 chr22 29600000 32200000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AP1B1,ASCC2,CABP7,CCDC157,DEPDC5,DRG1,DUSP18,EIF4ENIF1,EMID1,EWSR1,GAL3ST1,GAS2L1,GATSL3,HORMAD2,INPP5J,KIAA1656,LIF,LIMK2,MIR3200,MIR3653,MIR3928,MORC2,MORC2-AS1,MTFP1,MTMR3,NEFH,NF2,NIPSNAP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PLA2G3,PRR14L,RASL10A,RFPL1,RFPL1-AS1,RHBDD3,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SMTN,SNORD125,TBC1D10A,TCN2,THOC5,TUG1,UQCR10,ZMAT5 chr22 29600000 51304566 Deletion Autism FISH 19384346 A4GALT,ACO2,ACR,ADM2,ADSL,ALG12,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARSA,ASCC2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BPIFC,BRD1,C1QTNF6,C22orf23,C22orf24,C22orf26,C22orf28,C22orf32,C22orf34,C22orf42,C22orf46,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHKB,CHKB-CPT1B,CN5H6.4,CPT1B,CRELD2,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM116B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HDAC10,HMGXB4,HMOX1,HORMAD2,IFT27,IL17REL,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KLHDC7B,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC339666,LOC388906,LOC400927,LOC730668,LOC90834,MAFF,MAPK11,MAPK12,MAPK8IP2,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIOX,MIR1249,MIR1281,MIR3200,MIR3201,MIR33A,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MORC2,MORC2-AS1,MOV10L1,MPPED1,MPST,MTFP1,MTMR3,MYH9,NAGA,NCAPH2,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,ODF3B,OSBP2,OSM,PACSIN2,PANX2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PIM3,PISD,PKDREJ,PLA2G3,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PPP6R2,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RABL2B,RAC2,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SBF1,SCO2,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SELO,SEPT3,SERHL,SERHL2,SF3A1,SFI1,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A17,SLC35E4,SLC5A1,SLC5A4,SMC1B,SMCR7L,SMTN,SNORD125,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYCE3,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TCF20,TCN2,TEF,TEX33,THOC5,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRABD,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TUBGCP6,TUG1,TXN2,TYMP,UPK3A,UQCR10,WBP2NL,WNT7B,XPNPEP3,XRCC6,YWHAH,ZBED4,ZC3H7B,ZMAT5 chr2 229618234 229628510 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 29628206 29628768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMID1 chr2 229634551 229634701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29642886 29647091 Gain and loss Pancreatic cancer SNP array 17952125 EMID1 chr22 29647154 29688741 Gain and loss Pancreatic cancer SNP array 17952125 EMID1,EWSR1,RHBDD3 chr22 29652600 29694187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMID1,EWSR1,RHBDD3 chr22 29652600 29694187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMID1,EWSR1,RHBDD3 chr22 29653610 48222816 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A4GALT,ACO2,ADSL,ANKRD54,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ASCC2,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf26,C22orf28,C22orf32,C22orf42,C22orf46,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,HORMAD2,IFT27,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC339666,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3200,MIR33A,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4762,MIR4763,MIR4764,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MORC2,MORC2-AS1,MPPED1,MPST,MTFP1,MTMR3,MYH9,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OSBP2,OSM,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PISD,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RHBDD3,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SERHL,SERHL2,SF3A1,SFI1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC35E4,SLC5A1,SLC5A4,SMC1B,SMCR7L,SMTN,SNORD125,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TCF20,TCN2,TEF,TEX33,THOC5,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TUG1,TXN2,UPK3A,UQCR10,WBP2NL,WNT7B,XPNPEP3,XRCC6,YWHAH,ZC3H7B,ZMAT5 chr2 229665014 229665198 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 229667025 229667120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 229679525 229724045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 229679991 229680091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 229684356 229684451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29691217 29696603 Gain and loss Pancreatic cancer SNP array 17952125 EWSR1 chr2 229693019 229693119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29694501 29696000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EWSR1 chr22 29696663 29702049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29698248 29705380 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 GAS2L1 chr2 229711939 229712079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 229714216 229953026 Gain and loss Pancreatic cancer SNP array 17952125 PID1 chr22 29724501 29802000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AP1B1,MIR3653,SNORD125 chr2 229726902 229727002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 229729367 229760104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 229753732 229753910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29780529 29780825 Gain and loss Pancreatic cancer SNP array 17952125 AP1B1 chr22 29785975 29786271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 229796477 229841228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 29801858 29825163 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29802001 29808500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 229802681 229823614 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 229803065 229823614 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 29803660 29803863 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29807305 29830609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29807305 29830609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29808501 29820500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 229809400 229809568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 22980963 23015282 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr22 29820501 29870000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RFPL1,RFPL1-AS1 chr22 29825312 29840609 Gain and loss Pancreatic cancer SNP array 17952125 RFPL1,RFPL1-AS1 chr22 29830758 29846055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RFPL1,RFPL1-AS1 chr22 29830758 29846055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RFPL1,RFPL1-AS1 chr2 229836999 230090868 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PID1 chr22 29839003 29839375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29843515 29855237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29848961 29860683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29848961 29860683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29855349 29861147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29860795 29866593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29860795 29866593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 29863092 30666194 LOH Normal High-resolution SNP genotyping 21211785 ASCC2,CABP7,HORMAD2,LIF,MTMR3,NEFH,NF2,NIPSNAP1,OSM,THOC5,UQCR10,ZMAT5 chr22 29870001 30069000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NEFH,NF2,NIPSNAP1,THOC5 chr2 229870993 229871171 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29876509 29877167 Gain and loss Pancreatic cancer SNP array 17952125 NEFH chr22 29880733 29927552 Gain and loss Pancreatic cancer SNP array 17952125 NEFH,THOC5 chr22 29881949 29882631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEFH chr2 22988405 22988453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29886179 29932998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEFH,THOC5 chr22 29886179 29932998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEFH,THOC5 chr22 29887517 29887581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 29897517 30554739 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ASCC2,CABP7,HORMAD2,MTMR3,NF2,NIPSNAP1,THOC5,UQCR10,ZMAT5 chr2 229907302 229907393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PID1 chr22 29925853 29926069 Gain and loss Pancreatic cancer SNP array 17952125 THOC5 chr2 229926661 229926829 Gain and loss Pancreatic cancer SNP array 17952125 PID1 chr2 229930588 230287530 Copy number Lung cancer - 20668451 DNER,PID1 chr2 229930588 230287530 Gain or loss Breast cancer - 20668451 DNER,PID1 chr2 229930588 230287530 Gain or loss Cancer - 20668451 DNER,PID1 chr2 229930588 230287530 Gain or loss Lung cancer - 20668451 DNER,PID1 chr2 229930588 230287530 Gain or loss Ovarian cancer - 20668451 DNER,PID1 chr2 229930588 230287530 Gain or loss Pancreas cancer - 20668451 DNER,PID1 chr2 229930588 230287530 Gain or loss Prostate cancer - 20668451 DNER,PID1 chr2 229930589 230287530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNER,PID1 chr2 229930589 230287530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNER,PID1 chr22 29931299 29931515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THOC5 chr22 29932804 30000618 Gain and loss Pancreatic cancer SNP array 17952125 NF2,NIPSNAP1,THOC5 chr22 29936259 29936347 Gain and loss Pancreatic cancer SNP array 17952125 THOC5 chr22 29938250 30006066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NF2,NIPSNAP1,THOC5 chr22 29938250 30006066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF2,NIPSNAP1,THOC5 chr2 229939912 229939912 Copy number Prostate cancer Illumina GA II sequencer 21307934 PID1 chr22 29941705 29941793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THOC5 chr2 229942770 230189779 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PID1 chr22 29943276 29943393 Gain and loss Pancreatic cancer SNP array 17952125 THOC5 chr22 29943295 29943388 Gain and loss Pancreatic cancer SNP array 17952125 THOC5 chr22 29948731 29948839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THOC5 chr22 29950613 29950712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29950614 29950712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 29956057 29956158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIPSNAP1 chr22 29957854 29957942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NIPSNAP1 chr2 22996078 22996302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 230000001 238400000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 AGAP1,ALPI,ALPP,ALPPL2,ARL4C,ARMC9,ASB18,ATG16L1,B3GNT7,C2orf57,C2orf72,C2orf82,CAB39,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,DGKD,DIS3L2,DNAJB3,DNER,ECEL1,ECEL1P2,EFHD1,EIF4E2,FBXO36,GBX2,GIGYF2,GPR55,HJURP,HTR2B,INPP5D,IQCA1,ITM2C,KCNJ13,LINC00471,LOC100286922,LOC151475,LOC151484,LOC348761,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4777,MIR5001,MLPH,MSL3P1,NCL,NEU2,NGEF,NMUR1,NPPC,PDE6D,PID1,PRSS56,PSMD1,PTMA,SAG,SCARNA5,SCARNA6,SH3BP4,SLC16A14,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,TIGD1,TRIP12,TRPM8,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr22 30002153 30013019 Gain and loss Pancreatic cancer SNP array 17952125 NF2 chr22 30007599 30018474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NF2 chr22 30007599 30018474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF2 chr2 230012500 230012861 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 PID1 chr22 30015137 30015186 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NF2 chr22 30025944 30026033 Gain and loss Pancreatic cancer SNP array 17952125 NF2 chr22 30031390 30031498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF2 chr2 230031998 230063057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PID1 chr22 30046344 30066803 Gain and loss Pancreatic cancer SNP array 17952125 NF2 chr22 30046349 30066772 Amplification or deletion Cancer Array CGH 17440070 NF2 chr22 30046891 30046985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NF2 chr2 230047855 230404779 Gain and loss Pancreatic cancer SNP array 17952125 DNER,PID1 chr22 30049564 30050727 Gain and loss Pancreatic cancer SNP array 17952125 NF2 chr22 30051789 30072249 Gain or loss Breast cancer - 20668451 NF2 chr22 30051789 30072249 Gain or loss Cancer - 20668451 NF2 chr22 30051789 30072249 Gain or loss Lung cancer - 20668451 NF2 chr22 30051789 30072249 Gain or loss Ovarian cancer - 20668451 NF2 chr22 30051789 30072249 Gain or loss Pancreas cancer - 20668451 NF2 chr22 30051789 30072249 Gain or loss Prostate cancer - 20668451 NF2 chr22 30051789 30072249 Translate Ewing's sarcoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NF2 chr22 30051790 30072249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NF2 chr22 30051790 30072249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NF2 chr22 30067429 30069224 Gain and loss Pancreatic cancer SNP array 17952125 NF2 chr22 30069001 30073500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NF2 chr22 30086900 30086957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NF2 chr2 23010082 23010172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 30106417 30110625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 30109273 30109377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 230109326 242951149 Loss Wilms tumour 250K Genotyping Arrays 21544195 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,CAB39,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,CXXC11,D2HGDH,DGKD,DIS3L2,DNAJB3,DNER,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FBXO36,FLJ43879,GAL3ST2,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NEU4,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDCD1,PDE6D,PER2,PID1,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SLC16A14,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,STK25,THAP4,TIGD1,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr22 30110552 30113494 Loss Normal 244K array 17666407 NOT_FOUND chr22 30114719 30114823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 30120163 30154992 Gain and loss Pancreatic cancer SNP array 17952125 CABP7,ZMAT5 chr22 30125539 30160171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CABP7,ZMAT5 chr22 30125539 30160171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CABP7,ZMAT5 chr22 30159905 30210366 Gain and loss Pancreatic cancer SNP array 17952125 ASCC2,UQCR10,ZMAT5 chr22 30165353 30222094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASCC2,UQCR10 chr22 30165353 30222094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASCC2,UQCR10 chr2 23017353 23017423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 30199923 30200029 Gain and loss Pancreatic cancer SNP array 17952125 ASCC2 chr22 30199925 30200028 Gain and loss Pancreatic cancer SNP array 17952125 ASCC2 chr22 30205369 30205475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASCC2 chr22 30216815 30339089 Gain and loss Pancreatic cancer SNP array 17952125 ASCC2,MTMR3 chr22 30222261 30344534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASCC2,MTMR3 chr22 30222261 30344534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASCC2,MTMR3 chr2 230223947 230224027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNER chr22 30224643 30258248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASCC2 chr2 230241305 230241405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNER chr22 30247185 30247578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 30247217 30247284 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 230251676 230658011 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DNER,TRIP12 chr22 30264338 30264575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 30280023 30280479 Gain and loss Pancreatic cancer SNP array 17952125 MTMR3 chr22 30285469 30285925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTMR3 chr2 230296460 230296520 Gain and loss Pancreatic cancer SNP array 17952125 DNER chr2 230305049 230305121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNER chr2 230315501 230316500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNER chr22 30336501 30357500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MTMR3 chr22 30339035 30382755 Gain and loss Pancreatic cancer SNP array 17952125 MTMR3 chr2 230340173 230494899 Gain or loss Breast cancer - 20668451 DNER chr2 230340173 230494899 Gain or loss Cancer - 20668451 DNER chr2 230340173 230494899 Gain or loss Lung cancer - 20668451 DNER chr2 230340173 230494899 Gain or loss Ovarian cancer - 20668451 DNER chr2 230340173 230494899 Gain or loss Pancreas cancer - 20668451 DNER chr2 230340173 230494899 Gain or loss Prostate cancer - 20668451 DNER chr2 230340174 230494912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNER chr2 230340174 230494912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNER chr2 230341421 230341521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNER chr22 30344477 30388418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTMR3 chr22 30344477 30388418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTMR3 chr2 230352761 230352817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNER chr2 230369496 242444000 Duplication prenatal diagnosis arrayCGH 22389664 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,B3GNT7,C2orf54,C2orf57,C2orf72,C2orf82,CAB39,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,DGKD,DIS3L2,DNAJB3,DNER,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FBXO36,FLJ43879,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,INPP5D,IQCA1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDE6D,PER2,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SLC16A14,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,STK25,TIGD1,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 230389592 230389692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNER chr2 230392574 230392658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNER chr22 30396796 30433285 Gain and loss Pancreatic cancer SNP array 17952125 MTMR3 chr22 30402242 30476117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTMR3 chr22 30402242 30476117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTMR3 chr2 230422269 230892350 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNER,FBXO36,TRIP12 chr2 230422269 231480680 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNER,FBXO36,SLC16A14,SP100,SP110,SP140,SP140L,TRIP12 chr22 30428755 49465770 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A4GALT,ACO2,ADSL,ANKRD54,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf26,C22orf28,C22orf32,C22orf42,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CCDC157,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GAL3ST1,GALR3,GATSL3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,HORMAD2,IFT27,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC339666,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3200,MIR3201,MIR33A,MIR3619,MIR3909,MIR3928,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MORC2,MORC2-AS1,MPPED1,MPST,MTFP1,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,OSBP2,OSM,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PHF21B,PHF5A,PICK1,PIK3IP1,PISD,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RFPL2,RFPL3,RFPL3-AS1,RIBC2,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SERHL,SERHL2,SF3A1,SFI1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC35E4,SLC5A1,SLC5A4,SMC1B,SMCR7L,SMTN,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TCF20,TCN2,TEF,TEX33,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TUG1,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,YWHAH,ZC3H7B chr22 30434848 30436485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 230449242 231329039 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-349K arrays 21546498 DNER,FBXO36,SLC16A14,SP100,SP110,SP140,SP140L,TRIP12 chr22 30450660 30486826 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 HORMAD2 chr22 30450924 30583211 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 HORMAD2 chr2 230457435 230612160 Gain and loss Pancreatic cancer SNP array 17952125 DNER chr22 30465133 30498180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HORMAD2 chr22 30465812 30478818 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 HORMAD2 chr2 230467306 230467384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNER chr2 230467306 230467413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNER chr22 30475403 30627551 Gain and loss Pancreatic cancer SNP array 17952125 HORMAD2 chr22 30477742 30478038 Gain and loss Pancreatic cancer SNP array 17952125 HORMAD2 chr2 230478866 230528856 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNER chr22 30480055 30633001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HORMAD2 chr22 30480055 30633001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HORMAD2 chr2 230483001 230558900 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNER chr22 30483188 30483482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HORMAD2 chr22 30483188 30483484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HORMAD2 chr2 230495262 230586068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNER chr2 230495262 230586068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNER chr2 230495450 230656260 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 DNER,TRIP12 chr22 30500000 35900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AP1B1P1,BPIFC,C22orf24,C22orf28,C22orf42,CCDC157,DEPDC5,DRG1,DUSP18,EIF4ENIF1,FBXO7,GAL3ST1,GATSL3,HMGXB4,HMOX1,HORMAD2,INPP5J,ISX,KIAA1656,LARGE,LIF,LIMK2,LOC100506195,LOC339666,MCM5,MIR3200,MIR3909,MIR3928,MIR4764,MORC2,MORC2-AS1,MTFP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PLA2G3,PRR14L,RFPL2,RFPL3,RFPL3-AS1,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SYN3,TBC1D10A,TCN2,TIMP3,TOM1,TUG1,YWHAH chr22 30500000 35900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AP1B1P1,BPIFC,C22orf24,C22orf28,C22orf42,CCDC157,DEPDC5,DRG1,DUSP18,EIF4ENIF1,FBXO7,GAL3ST1,GATSL3,HMGXB4,HMOX1,HORMAD2,INPP5J,ISX,KIAA1656,LARGE,LIF,LIMK2,LOC100506195,LOC339666,MCM5,MIR3200,MIR3909,MIR3928,MIR4764,MORC2,MORC2-AS1,MTFP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PLA2G3,PRR14L,RFPL2,RFPL3,RFPL3-AS1,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SYN3,TBC1D10A,TCN2,TIMP3,TOM1,TUG1,YWHAH chr22 30500000 35900000 Insertion or deletion muscular dystrophy type 1D Quantitative PCR 21248746 AP1B1P1,BPIFC,C22orf24,C22orf28,C22orf42,CCDC157,DEPDC5,DRG1,DUSP18,EIF4ENIF1,FBXO7,GAL3ST1,GATSL3,HMGXB4,HMOX1,HORMAD2,INPP5J,ISX,KIAA1656,LARGE,LIF,LIMK2,LOC100506195,LOC339666,MCM5,MIR3200,MIR3909,MIR3928,MIR4764,MORC2,MORC2-AS1,MTFP1,OSBP2,OSM,PATZ1,PES1,PIK3IP1,PISD,PLA2G3,PRR14L,RFPL2,RFPL3,RFPL3-AS1,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SLC35E4,SLC5A1,SLC5A4,SMTN,SYN3,TBC1D10A,TCN2,TIMP3,TOM1,TUG1,YWHAH chr22 30500000 39300000 Gain Malignant fibrous histiocytomas aCGH 21085701 ANKRD54,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf28,C22orf42,CACNG2,CARD10,CBX6,CBY1,CCDC157,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DEPDC5,DMC1,DNAL4,DRG1,DUSP18,EIF3D,EIF3L,EIF4ENIF1,ELFN2,FAM227A,FBXO7,FOXRED2,GAL3ST1,GALR3,GATSL3,GCAT,GGA1,GTPBP1,H1F0,HMGXB4,HMOX1,HORMAD2,IFT27,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA1656,LARGE,LGALS1,LGALS2,LIF,LIMK2,LOC100506195,LOC100506241,LOC339666,LOC400927,MAFF,MB,MCM5,MFNG,MICALL1,MIR3200,MIR3909,MIR3928,MIR4534,MIR4764,MIR658,MIR659,MORC2,MORC2-AS1,MPST,MTFP1,MYH9,NCF4,NOL12,NPTXR,OSBP2,OSM,PATZ1,PDXP,PES1,PICK1,PIK3IP1,PISD,PLA2G3,PLA2G6,POLR2F,PRR14L,PVALB,RAC2,RASD2,RBFOX2,RFPL2,RFPL3,RFPL3-AS1,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SH3BP1,SLC16A8,SLC35E4,SLC5A1,SLC5A4,SMTN,SOX10,SSTR3,SUN2,SYN3,TBC1D10A,TCN2,TEX33,TIMP3,TMEM184B,TMPRSS6,TOM1,TOMM22,TRIOBP,TST,TUG1,TXN2,YWHAH chr22 30500000 39300000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ANKRD54,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf28,C22orf42,CACNG2,CARD10,CBX6,CBY1,CCDC157,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DEPDC5,DMC1,DNAL4,DRG1,DUSP18,EIF3D,EIF3L,EIF4ENIF1,ELFN2,FAM227A,FBXO7,FOXRED2,GAL3ST1,GALR3,GATSL3,GCAT,GGA1,GTPBP1,H1F0,HMGXB4,HMOX1,HORMAD2,IFT27,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA1656,LARGE,LGALS1,LGALS2,LIF,LIMK2,LOC100506195,LOC100506241,LOC339666,LOC400927,MAFF,MB,MCM5,MFNG,MICALL1,MIR3200,MIR3909,MIR3928,MIR4534,MIR4764,MIR658,MIR659,MORC2,MORC2-AS1,MPST,MTFP1,MYH9,NCF4,NOL12,NPTXR,OSBP2,OSM,PATZ1,PDXP,PES1,PICK1,PIK3IP1,PISD,PLA2G3,PLA2G6,POLR2F,PRR14L,PVALB,RAC2,RASD2,RBFOX2,RFPL2,RFPL3,RFPL3-AS1,RNF185,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SF3A1,SFI1,SH3BP1,SLC16A8,SLC35E4,SLC5A1,SLC5A4,SMTN,SOX10,SSTR3,SUN2,SYN3,TBC1D10A,TCN2,TEX33,TIMP3,TMEM184B,TMPRSS6,TOM1,TOMM22,TRIOBP,TST,TUG1,TXN2,YWHAH chr2 230510763 230510842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNER chr2 230535928 230666364 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNER,TRIP12 chr22 30537101 30587700 Copy number Normal ReadDepth: A Parallel R Package 21305028 HORMAD2 chr22 30542365 30543477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HORMAD2 chr2 230546275 230546381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNER chr22 30557778 30557838 Gain and loss Pancreatic cancer SNP array 17952125 HORMAD2 chr2 230560699 230570453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNER chr22 30563224 30563284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HORMAD2 chr2 230566830 230566881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNER chr2 230584567 230584645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 230585280 230587670 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 230585361 230587920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 230586093 230635400 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TRIP12 chr2 230607944 230641863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIP12 chr2 230607944 230641863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIP12 chr2 230612712 230703329 Gain and loss Pancreatic cancer SNP array 17952125 TRIP12 chr22 30616330 30617420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 230628024 230628103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 230631189 230631284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 30654658 30658606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 30659507 30671336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSM chr2 230663536 230663642 Gain and loss Pancreatic cancer SNP array 17952125 TRIP12 chr22 30665077 30678143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 230665555 230711200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRIP12 chr22 30670478 30683590 Gain or loss Breast cancer - 20668451 GATSL3 chr22 30670478 30683590 Gain or loss Cancer - 20668451 GATSL3 chr22 30670478 30683590 Gain or loss Lung cancer - 20668451 GATSL3 chr22 30670478 30683590 Gain or loss Ovarian cancer - 20668451 GATSL3 chr22 30670478 30683590 Gain or loss Pancreas cancer - 20668451 GATSL3 chr22 30670478 30683590 Gain or loss Prostate cancer - 20668451 GATSL3 chr22 30670478 30683590 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 GATSL3 chr22 30670479 30683590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GATSL3 chr22 30670479 30683590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GATSL3 chr22 30673945 30674046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 30679391 30679492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 23068328 23068428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 230700000 235300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALPI,ALPP,ALPPL2,ARMC9,ATG16L1,B3GNT7,C2orf57,C2orf72,C2orf82,CAB39,CHRND,CHRNG,COPS7B,DGKD,DIS3L2,DNAJB3,ECEL1,ECEL1P2,EFHD1,EIF4E2,FBXO36,GIGYF2,GPR55,HJURP,HTR2B,INPP5D,ITM2C,KCNJ13,LINC00471,LOC100286922,LOC151475,LOC151484,LOC348761,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4777,MIR5001,MSL3P1,NCL,NEU2,NGEF,NMUR1,NPPC,PDE6D,PRSS56,PSMD1,PTMA,SAG,SCARNA5,SCARNA6,SLC16A14,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,TIGD1,TRIP12,TRPM8,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 230700000 235300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALPI,ALPP,ALPPL2,ARMC9,ATG16L1,B3GNT7,C2orf57,C2orf72,C2orf82,CAB39,CHRND,CHRNG,COPS7B,DGKD,DIS3L2,DNAJB3,ECEL1,ECEL1P2,EFHD1,EIF4E2,FBXO36,GIGYF2,GPR55,HJURP,HTR2B,INPP5D,ITM2C,KCNJ13,LINC00471,LOC100286922,LOC151475,LOC151484,LOC348761,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4777,MIR5001,MSL3P1,NCL,NEU2,NGEF,NMUR1,NPPC,PDE6D,PRSS56,PSMD1,PTMA,SAG,SCARNA5,SCARNA6,SLC16A14,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,TIGD1,TRIP12,TRPM8,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 230700000 237000000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 AGAP1,ALPI,ALPP,ALPPL2,ARL4C,ARMC9,ATG16L1,B3GNT7,C2orf57,C2orf72,C2orf82,CAB39,CHRND,CHRNG,COPS7B,DGKD,DIS3L2,DNAJB3,ECEL1,ECEL1P2,EFHD1,EIF4E2,FBXO36,GIGYF2,GPR55,HJURP,HTR2B,INPP5D,ITM2C,KCNJ13,LINC00471,LOC100286922,LOC151475,LOC151484,LOC348761,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4777,MIR5001,MSL3P1,NCL,NEU2,NGEF,NMUR1,NPPC,PDE6D,PRSS56,PSMD1,PTMA,SAG,SCARNA5,SCARNA6,SH3BP4,SLC16A14,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,TIGD1,TRIP12,TRPM8,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 230700000 242951149 Deletion Mental retardation array-CGH 20152051 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,CAB39,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,CXXC11,D2HGDH,DGKD,DIS3L2,DNAJB3,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FBXO36,FLJ43879,GAL3ST2,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NEU4,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDCD1,PDE6D,PER2,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SLC16A14,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,STK25,THAP4,TIGD1,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 230700000 242951149 Gain Cancer array-based techniques 21183584 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,CAB39,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,CXXC11,D2HGDH,DGKD,DIS3L2,DNAJB3,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FBXO36,FLJ43879,GAL3ST2,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NEU4,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDCD1,PDE6D,PER2,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SLC16A14,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,STK25,THAP4,TIGD1,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 230700000 242951149 Loss Cancer array-based techniques 21183584 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,CAB39,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,CXXC11,D2HGDH,DGKD,DIS3L2,DNAJB3,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FBXO36,FLJ43879,GAL3ST2,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NEU4,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDCD1,PDE6D,PER2,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SLC16A14,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,STK25,THAP4,TIGD1,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 230700000 242951149 Microdeletion Brachydactyly-Mental Retardation Syndrome aCGH 22470819 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,CAB39,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,CXXC11,D2HGDH,DGKD,DIS3L2,DNAJB3,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FBXO36,FLJ43879,GAL3ST2,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NEU4,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDCD1,PDE6D,PER2,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SLC16A14,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,STK25,THAP4,TIGD1,TRAF3IP1,TRIP12,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr22 30701684 30701956 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D10A chr2 230702996 230704726 Loss Normal 244K array 17666407 TRIP12 chr22 30707130 30707402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D10A chr2 230725205 230759132 Gain and loss Pancreatic cancer SNP array 17952125 TRIP12 chr2 230733517 230792932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO36,TRIP12 chr2 230733517 230792932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO36,TRIP12 chr2 230748452 230748545 Gain and loss Pancreatic cancer SNP array 17952125 TRIP12 chr2 230748453 230748545 Gain and loss Pancreatic cancer SNP array 17952125 TRIP12 chr22 30760023 30760485 Gain and loss Pancreatic cancer SNP array 17952125 CCDC157 chr22 30763813 30831199 Gain and loss Pancreatic cancer SNP array 17952125 CCDC157,KIAA1656,MTFP1,RNF215,SEC14L2 chr22 30765477 30765883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC157,KIAA1656 chr22 30765477 30765883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC157,KIAA1656 chr22 30769259 30836645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC157,KIAA1656,MTFP1,RNF215,SEC14L2 chr22 30769259 30836645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC157,KIAA1656,MTFP1,RNF215,SEC14L2 chr22 30773233 30773333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1656 chr22 30774793 30774873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF215 chr2 230798690 230886174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXO36 chr2 230798690 230886174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO36 chr22 30815883 30831645 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTFP1,SEC14L2 chr2 23082368 23107736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 30835976 31086819 Gain Autism Exome sequencing and CGH 22495309 DUSP18,GAL3ST1,PES1,SDC4P,SEC14L3,SEC14L4,SEC14L6,SLC35E4,TCN2 chr22 30845501 30850500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 23084725 23104885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 30850501 30928500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SDC4P,SEC14L3,SEC14L4,SEC14L6 chr22 30855676 30856599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC14L3 chr2 230859345 230910158 Gain and loss Pancreatic cancer SNP array 17952125 FBXO36,SLC16A14 chr22 30860015 30860120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC14L3 chr22 30868875 30871123 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 30875519 30885243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SDC4P,SEC14L4 chr22 30875519 30885243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDC4P,SEC14L4 chr22 30876767 30876867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 230878501 230881000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 30885742 30916976 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SEC14L4 chr22 30910980 30914020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 30912978 30957278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GAL3ST1,SEC14L6 chr2 230915951 231003435 Gain and loss Pancreatic cancer SNP array 17952125 SLC16A14 chr2 230916055 230916621 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC16A14 chr22 30916425 30929464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC14L6 chr22 30916425 30929464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC14L6 chr22 30916976 38238143 LOH Normal High-resolution SNP genotyping 21211785 ANKRD54,AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BPIFC,C1QTNF6,C22orf24,C22orf28,C22orf42,CACNG2,CARD10,CDC42EP1,CSF2RB,CYTH4,DEPDC5,DRG1,DUSP18,EIF3D,EIF4ENIF1,ELFN2,FBXO7,FOXRED2,GAL3ST1,GALR3,GCAT,GGA1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,INPP5J,ISX,KCTD17,LARGE,LGALS1,LGALS2,LIMK2,LOC100506195,LOC100506241,LOC339666,MB,MCM5,MFNG,MIR3200,MIR3909,MIR3928,MIR4764,MORC2,MORC2-AS1,MPST,MYH9,NCF4,NOL12,OSBP2,PATZ1,PDXP,PES1,PIK3IP1,PISD,PLA2G3,PRR14L,PVALB,RAC2,RASD2,RBFOX2,RFPL2,RFPL3,RFPL3-AS1,RNF185,SEC14L6,SELM,SFI1,SH3BP1,SLC35E4,SLC5A1,SLC5A4,SMTN,SSTR3,SYN3,TCN2,TEX33,TIMP3,TMPRSS6,TOM1,TRIOBP,TST,TUG1,TXN2,YWHAH chr2 230923213 230930955 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SLC16A14 chr22 30925906 30926221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC14L6 chr22 30928501 30934500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEC14L6 chr2 230930743 231480680 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SLC16A14,SP100,SP110,SP140,SP140L chr2 230930762 230976689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC16A14 chr2 230930762 230976689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC16A14 chr22 30934501 30939000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEC14L6 chr22 30937538 30938261 Copy number Normal Paralogue Ratio Test systems 17175532 SEC14L6 chr22 30939019 30975882 Gain and loss Pancreatic cancer SNP array 17952125 GAL3ST1,PES1,SEC14L6 chr22 30944465 30981326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAL3ST1,PES1 chr22 30944465 30981326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAL3ST1,PES1 chr2 23097224 23097304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 230989199 231118561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SP110,SP140 chr2 230989199 231118561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP110,SP140 chr22 30992424 30994154 Gain and loss Pancreatic cancer SNP array 17952125 PES1 chr2 23099536 23113807 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 30995501 30999000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PES1 chr22 30998528 30999049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PES1 chr22 30999001 31050500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PES1,SLC35E4,TCN2 chr2 231000000 235600000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ALPI,ALPP,ALPPL2,ARL4C,ARMC9,ATG16L1,B3GNT7,C2orf57,C2orf72,C2orf82,CAB39,CHRND,CHRNG,COPS7B,DGKD,DIS3L2,DNAJB3,ECEL1,ECEL1P2,EFHD1,EIF4E2,GIGYF2,GPR55,HJURP,HTR2B,INPP5D,ITM2C,KCNJ13,LINC00471,LOC100286922,LOC151475,LOC151484,LOC348761,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4777,MIR5001,MSL3P1,NCL,NEU2,NGEF,NMUR1,NPPC,PDE6D,PRSS56,PSMD1,PTMA,SAG,SCARNA5,SCARNA6,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,TIGD1,TRPM8,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 231000000 235600000 Deletion Colorectal cancer GISTIC software 19359472 ALPI,ALPP,ALPPL2,ARL4C,ARMC9,ATG16L1,B3GNT7,C2orf57,C2orf72,C2orf82,CAB39,CHRND,CHRNG,COPS7B,DGKD,DIS3L2,DNAJB3,ECEL1,ECEL1P2,EFHD1,EIF4E2,GIGYF2,GPR55,HJURP,HTR2B,INPP5D,ITM2C,KCNJ13,LINC00471,LOC100286922,LOC151475,LOC151484,LOC348761,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4777,MIR5001,MSL3P1,NCL,NEU2,NGEF,NMUR1,NPPC,PDE6D,PRSS56,PSMD1,PTMA,SAG,SCARNA5,SCARNA6,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,TIGD1,TRPM8,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 231000000 243199373 Loss Autism References 18414403 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,CAB39,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,CXXC11,D2HGDH,DGKD,DIS3L2,DNAJB3,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC728323,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NEU4,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDCD1,PDE6D,PER2,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,STK25,THAP4,TIGD1,TRAF3IP1,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 231000000 243199373 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,CAB39,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,CXXC11,D2HGDH,DGKD,DIS3L2,DNAJB3,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GIGYF2,GPC1,GPR35,GPR55,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,ITM2C,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC151475,LOC151484,LOC200772,LOC348761,LOC643387,LOC728323,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NEU4,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDCD1,PDE6D,PER2,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SNED1,SNORA75,SNORD20,SNORD82,SP100,SP110,SP140,SP140L,SPATA3,SPP2,STK25,THAP4,TIGD1,TRAF3IP1,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 23101115 23104682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 231023017 231023103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 231031801 231035900 Deletion Glioma mate-paired sequence 20126413 SP110 chr2 231033539 231033881 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SP110 chr22 31033632 31036176 Gain and loss Pancreatic cancer SNP array 17952125 SLC35E4 chr22 31042408 31042491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35E4 chr2 231048023 231093950 Gain and loss Pancreatic cancer SNP array 17952125 SP110,SP140 chr2 231049720 231049820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SP110 chr22 31050501 31062000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DUSP18 chr22 31075849 31081701 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 31079001 31080500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 231080060 231080343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP110 chr2 231080060 231080345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP110 chr22 31080872 31087148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 31080872 31087148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 231082653 231082752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SP110 chr22 31085893 31097063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBP2 chr22 31085893 31097063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBP2 chr22 31091715 31604166 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 INPP5J,MIR3200,MIR3928,MORC2,MORC2-AS1,OSBP2,PLA2G3,RNF185,SELM,SMTN,TUG1 chr22 31102669 31103122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBP2 chr2 231106517 231233304 Gain and loss Pancreatic cancer SNP array 17952125 SP140,SP140L chr22 31108123 31132787 Gain and loss Pancreatic cancer SNP array 17952125 MIR3200,OSBP2 chr2 231109709 231109764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SP140 chr22 31112655 31112855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBP2 chr22 31113569 31138233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3200,OSBP2 chr22 31113569 31138233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3200,OSBP2 chr22 31128549 31128688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OSBP2 chr2 231131813 231131913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SP140 chr2 23113278 23113378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 31134844 31177927 Gain and loss Pancreatic cancer SNP array 17952125 OSBP2 chr22 31139834 31190471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBP2 chr22 31139834 31190471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBP2 chr2 231160084 231160186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP140 chr22 31195264 31219369 Gain and loss Pancreatic cancer SNP array 17952125 OSBP2 chr2 231197321 231197606 Gain and loss Pancreatic cancer SNP array 17952125 SP140L chr22 31200706 31224818 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 OSBP2 chr22 31200707 31224818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBP2 chr22 31200707 31224818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBP2 chr22 31221555 31221658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBP2 chr2 231230026 231230093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SP140L chr22 31234233 31727201 Gain and loss Pancreatic cancer SNP array 17952125 INPP5J,LIMK2,MIR3928,MORC2,MORC2-AS1,OSBP2,PATZ1,PIK3IP1,PLA2G3,RNF185,SELM,SMTN,TUG1 chr22 31238539 31732683 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20858604 INPP5J,LIMK2,MIR3928,MORC2,MORC2-AS1,OSBP2,PATZ1,PIK3IP1,PLA2G3,RNF185,SELM,SMTN,TUG1 chr22 31238539 31784358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5J,LIMK2,MIR3928,MORC2,MORC2-AS1,OSBP2,PATZ1,PIK3IP1,PLA2G3,RNF185,SELM,SMTN,TUG1 chr22 31238539 31784358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5J,LIMK2,MIR3928,MORC2,MORC2-AS1,OSBP2,PATZ1,PIK3IP1,PLA2G3,RNF185,SELM,SMTN,TUG1 chr22 31254001 31609500 Copy number Normal ReadDepth: A Parallel R Package 21305028 INPP5J,LIMK2,MIR3928,MORC2,MORC2-AS1,OSBP2,PLA2G3,RNF185,SELM,SMTN,TUG1 chr22 31255407 32147191 Deletion Breast cancer FISH 17142309 DRG1,EIF4ENIF1,INPP5J,LIMK2,MIR3928,MORC2,MORC2-AS1,OSBP2,PATZ1,PIK3IP1,PISD,PLA2G3,PRR14L,RNF185,SELM,SFI1,SMTN,TUG1 chr22 31257932 31258517 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OSBP2 chr2 231263385 231264131 Gain and loss Pancreatic cancer SNP array 17952125 SP140L chr22 31268035 31268112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBP2 chr22 31268416 31283616 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 OSBP2 chr2 231277341 231277443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 231277342 231277441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 31279339 31279439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBP2 chr2 231285880 231285980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SP100 chr2 231285909 231394024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SP100 chr2 231285909 231394024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP100 chr22 31303460 31303534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBP2 chr2 231312410 231312500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SP100 chr2 231317341 231317441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SP100 chr22 31322567 31322615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MORC2,MORC2-AS1 chr2 231325100 231325206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SP100 chr2 231328461 231328561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SP100 chr22 31330496 31330555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MORC2 chr22 31355650 31355738 Gain and loss Pancreatic cancer SNP array 17952125 MORC2 chr22 31361096 31361184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MORC2 chr2 231378677 231396355 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SP100 chr2 231394501 231401000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SP100 chr2 231401001 231402500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SP100 chr2 231403170 231511287 Gain and loss Pancreatic cancer SNP array 17952125 SP100 chr2 231414240 231415192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 231415363 231415623 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 31429675 31434377 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 31434058 32673542 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AP1B1P1,C22orf24,C22orf42,DEPDC5,DRG1,EIF4ENIF1,INPP5J,LIMK2,MIR3928,PATZ1,PIK3IP1,PISD,PLA2G3,PRR14L,RFPL2,RNF185,SELM,SFI1,SLC5A1,SLC5A4,SMTN,YWHAH chr2 231437001 231450500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 231437557 231452206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 231437557 231452206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 231442361 231442465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 231442361 231442467 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 231446469 231446516 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr2 231450501 231497500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 231454807 231454899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 231456817 231456890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 231480287 231534025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 231480287 231534025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 231497501 231514500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 231514501 231630500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAB39,LOC151475 chr22 31521356 31583581 Gain and loss Pancreatic cancer SNP array 17952125 INPP5J,MIR3928,PLA2G3,RNF185 chr22 31526802 31589030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5J,MIR3928,PLA2G3,RNF185 chr22 31526802 31589030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5J,MIR3928,PLA2G3,RNF185 chr22 31534589 31534926 Gain and loss Pancreatic cancer SNP array 17952125 PLA2G3 chr2 231536732 231536797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 31540035 31540372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 31554660 31599343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR3928,RNF185 chr2 231555131 231569467 Gain and loss Pancreatic cancer SNP array 17952125 LOC151475 chr2 231569193 231598014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAB39 chr2 231569193 231598014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAB39 chr22 31580560 31580974 Gain and loss Pancreatic cancer SNP array 17952125 RNF185 chr22 31584263 31584363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF185 chr22 31586006 31586420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF185 chr2 231592317 231593496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAB39 chr2 231597539 231615446 Gain and loss Pancreatic cancer SNP array 17952125 CAB39 chr2 231604543 231604643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAB39 chr22 31608573 31608670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIMK2 chr2 231610906 231620313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAB39 chr22 31615583 49465770 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A4GALT,ACO2,ADSL,ANKRD54,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf26,C22orf28,C22orf32,C22orf42,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,DRG1,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC339666,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR3909,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PIK3IP1,PISD,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RFPL2,RFPL3,RFPL3-AS1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SFI1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC5A1,SLC5A4,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYN3,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,YWHAH,ZC3H7B chr22 31625759 31626076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIMK2 chr2 231629852 231745717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAB39,ITM2C chr2 231629852 231745717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAB39,ITM2C chr2 231637928 231637978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAB39 chr22 31645990 31678795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIMK2,PIK3IP1 chr22 31656705 31662244 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LIMK2 chr22 31661293 31693183 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIMK2,PIK3IP1 chr22 31665980 31666077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIMK2 chr2 231681199 231698068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAB39 chr2 231681199 231698068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAB39 chr2 231686454 231693009 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 231704421 231704744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 231706420 231706588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 231737983 231738036 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ITM2C chr22 31740965 31741446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PATZ1 chr2 231747114 231862978 Gain and loss Pancreatic cancer SNP array 17952125 GPR55,LOC151484,LOC348761,SPATA3 chr2 231754001 231758500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC151484 chr2 231758501 231759500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC151484 chr22 31763656 31763756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 231771586 231944490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf72,GPR55,LOC348761,PSMD1,SPATA3 chr2 231771586 231944490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf72,GPR55,LOC348761,PSMD1,SPATA3 chr22 31777946 33961544 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AP1B1P1,BPIFC,C22orf24,C22orf28,C22orf42,DEPDC5,DRG1,EIF4ENIF1,FBXO7,LARGE,LOC339666,MIR4764,PISD,PRR14L,RFPL2,RFPL3,RFPL3-AS1,SFI1,SLC5A1,SLC5A4,SYN3,TIMP3,YWHAH chr2 231788694 231788789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR55 chr2 231790000 232990000 Deletion Sezary syndrome Array-based CGH 18413736 ARMC9,B3GNT7,C2orf57,C2orf72,COPS7B,DIS3L2,HTR2B,LINC00471,LOC348761,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR4777,NCL,NMUR1,NPPC,PDE6D,PSMD1,PTMA,SNORA75,SNORD20,SNORD82,SPATA3 chr22 31796636 31799910 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DRG1 chr2 231798460 231815329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 231818291 231818433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 31818605 31852604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DRG1,EIF4ENIF1 chr2 231822349 231822399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 231822759 231822906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 231823681 231823836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 231823681 231823874 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 31852101 31852201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF4ENIF1 chr22 31857610 31887432 Gain and loss Pancreatic cancer SNP array 17952125 EIF4ENIF1 chr2 231873337 231873394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 231888850 232064111 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9,C2orf72,HTR2B,PSMD1 chr22 31889314 32003182 Amplification Esophageal cancer affymetrix genechip human mapping 263K Nsp arrays 21851588 SFI1 chr22 31892260 32014533 Deletion Prostate cancer aCGH 22341455 PISD,SFI1 chr2 231903389 231903477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf72 chr2 23190852 23190947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 231909681 242651100 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AGAP1,AGXT,ALPI,ALPP,ALPPL2,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ARMC9,ASB1,ASB18,ATG16L1,ATG4B,B3GNT7,BOK,BOK-AS1,C2orf54,C2orf57,C2orf72,C2orf82,CAPN10,CHRND,CHRNG,COL6A3,COPS7B,COPS8,CXCR7,DGKD,DIS3L2,DNAJB3,DTYMK,DUSP28,ECEL1,ECEL1P2,EFHD1,EIF4E2,ESPNL,FARP2,FLJ43879,GBX2,GIGYF2,GPC1,GPR35,HDAC4,HDLBP,HES6,HJURP,HTR2B,ILKAP,ING5,INPP5D,IQCA1,KCNJ13,KIF1A,KLHL30,LINC00471,LOC100286922,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4777,MIR4786,MIR5001,MLPH,MSL3P1,MTERFD2,MYEOV2,NCL,NDUFA10,NEU2,NGEF,NMUR1,NPPC,OR6B2,OR6B3,OTOS,PASK,PDE6D,PER2,PP14571,PPP1R7,PRLH,PRR21,PRSS56,PSMD1,PTMA,RAB17,RAMP1,RBM44,RNPEPL1,SAG,SCARNA5,SCARNA6,SCLY,SEPT2,SH3BP4,SNED1,SNORA75,SNORD20,SNORD82,SPP2,STK25,THAP4,TIGD1,TRAF3IP1,TRPM8,TWIST2,UBE2F,UBE2F-SCLY,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 23191064 23191187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 231926251 232238000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARMC9,HTR2B,MIR4777,PSMD1 chr2 231935552 231935694 Gain and loss Pancreatic cancer SNP array 17952125 PSMD1 chr2 231953837 231974119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HTR2B,PSMD1 chr2 231953837 231974119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR2B,PSMD1 chr22 31977306 49465770 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A4GALT,ACO2,ADSL,ANKRD54,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf26,C22orf28,C22orf32,C22orf42,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC339666,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR3909,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PISD,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RFPL2,RFPL3,RFPL3-AS1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SFI1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC5A1,SLC5A4,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYN3,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,YWHAH,ZC3H7B chr22 31981043 31981107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFI1 chr2 231988055 231988517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HTR2B,PSMD1 chr22 31993401 32640964 Copy number Autism Illumina Humanhap300 Beadchips 19492091 AP1B1P1,C22orf24,C22orf42,DEPDC5,PISD,PRR14L,RFPL2,SFI1,SLC5A1,SLC5A4,YWHAH chr22 31993401 32640964 Gain and loss Pancreatic cancer SNP array 17952125 AP1B1P1,C22orf24,C22orf42,DEPDC5,PISD,PRR14L,RFPL2,SFI1,SLC5A1,SLC5A4,YWHAH chr22 31998847 32646410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AP1B1P1,C22orf24,C22orf42,DEPDC5,PISD,PRR14L,RFPL2,SFI1,SLC5A1,SLC5A4,YWHAH chr22 31998847 32646410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AP1B1P1,C22orf24,C22orf42,DEPDC5,PISD,PRR14L,RFPL2,SFI1,SLC5A1,SLC5A4,YWHAH chr22 31999062 32646416 Copy number Autism exome sequencing 22495311 AP1B1P1,C22orf24,C22orf42,DEPDC5,PISD,PRR14L,RFPL2,SFI1,SLC5A1,SLC5A4,YWHAH chr2 232007049 232007384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMD1 chr2 232007049 232007384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD1 chr22 32013785 32013880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFI1 chr22 32020322 32050874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PISD chr2 232027706 232037449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PSMD1 chr2 232027706 232037449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD1 chr2 232028755 232028891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD1 chr2 232029399 232029478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD1 chr2 232033326 232033395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSMD1 chr2 232035846 232036365 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PSMD1 chr22 32053998 32087540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRR14L chr22 32065995 32067056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 32070701 32070780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 32070776 32070856 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 232074987 232075156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC9 chr22 32076169 32076370 Gain Normal 244K array 17666407 NOT_FOUND chr2 232081383 232087294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARMC9 chr2 232081383 232087294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC9 chr22 32081616 32081766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRR14L chr22 32081997 32084575 Loss Normal 244K array 17666407 PRR14L chr2 232087936 232089141 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232096114 232103426 Gain or loss Breast cancer - 20668451 ARMC9 chr2 232096114 232103426 Gain or loss Cancer - 20668451 ARMC9 chr2 232096114 232103426 Gain or loss Lung cancer - 20668451 ARMC9 chr2 232096114 232103426 Gain or loss Ovarian cancer - 20668451 ARMC9 chr2 232096114 232103426 Gain or loss Pancreas cancer - 20668451 ARMC9 chr2 232096114 232103426 Gain or loss Prostate cancer - 20668451 ARMC9 chr2 232096116 232103452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARMC9 chr2 232096116 232103452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC9 chr22 32106173 32106247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRR14L chr22 32110422 32113105 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PRR14L chr2 232124179 232124642 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232131261 232143190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARMC9 chr2 232144965 232154716 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232146016 232146152 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232146660 232146739 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232150586 232150653 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232150587 232150656 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232160611 232205463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARMC9 chr2 232165856 232167236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARMC9 chr2 232165856 232167236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC9 chr2 232192252 232192417 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232192343 232192417 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr22 32193499 32234100 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DEPDC5 chr22 32193499 32234100 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DEPDC5 chr2 232198644 232204555 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr22 32200000 37600000 Copy number Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BPIFC,C1QTNF6,C22orf24,C22orf28,C22orf42,CACNG2,CSF2RB,DEPDC5,EIF3D,FBXO7,FOXRED2,HMGXB4,HMOX1,IFT27,IL2RB,ISX,KCTD17,LARGE,LOC100506195,LOC100506241,LOC339666,MB,MCM5,MIR3909,MIR4764,MPST,MYH9,NCF4,PVALB,RASD2,RBFOX2,RFPL2,RFPL3,RFPL3-AS1,SLC5A1,SLC5A4,SYN3,TEX33,TIMP3,TMPRSS6,TOM1,TST,TXN2,YWHAH chr22 32200000 44200000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 A4GALT,ACO2,ADSL,ANKRD54,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ATF4,ATP5L2,BAIAP2L2,BIK,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf28,C22orf32,C22orf42,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CENPM,CHADL,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM227A,FAM83F,FBXO7,FOXRED2,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,L3MBTL2,LARGE,LGALS1,LGALS2,LINC00634,LOC100130899,LOC100132273,LOC100506195,LOC100506241,LOC100506472,LOC339666,LOC388906,LOC400927,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1281,MIR33A,MIR3909,MIR4534,MIR4764,MIR4766,MIR658,MIR659,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,PACSIN2,PDGFB,PDXP,PHF5A,PICK1,PLA2G6,PMM1,POLDIP3,POLR2F,POLR3H,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RFPL2,RFPL3,RFPL3-AS1,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC5A1,SLC5A4,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SUN2,SYN3,SYNGR1,TAB1,TCF20,TEF,TEX33,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TSPO,TST,TTLL1,TTLL12,TXN2,WBP2NL,XPNPEP3,XRCC6,YWHAH,ZC3H7B chr22 32209002 32482148 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C22orf24,DEPDC5,SLC5A1,YWHAH chr22 32210000 38130000 Loss Breast cancer aCGH 21509527 AP1B1P1,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BPIFC,C1QTNF6,C22orf24,C22orf28,C22orf42,CACNG2,CARD10,CDC42EP1,CSF2RB,CYTH4,DEPDC5,EIF3D,ELFN2,FBXO7,FOXRED2,GGA1,HMGXB4,HMOX1,IFT27,IL2RB,ISX,KCTD17,LARGE,LGALS1,LGALS2,LOC100506195,LOC100506241,LOC339666,MB,MCM5,MFNG,MIR3909,MIR4764,MPST,MYH9,NCF4,NOL12,PDXP,PVALB,RAC2,RASD2,RBFOX2,RFPL2,RFPL3,RFPL3-AS1,SH3BP1,SLC5A1,SLC5A4,SSTR3,SYN3,TEX33,TIMP3,TMPRSS6,TOM1,TRIOBP,TST,TXN2,YWHAH chr2 232213377 232220713 Gain and loss Pancreatic cancer SNP array 17952125 ARMC9 chr2 232218953 232219228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARMC9 chr22 32233083 49590301 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 A4GALT,ACO2,ADSL,ANKRD54,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BPIFC,C1QTNF6,C22orf23,C22orf24,C22orf26,C22orf28,C22orf32,C22orf42,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DEPDC5,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FBXO7,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC339666,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR3909,MIR4534,MIR4535,MIR4762,MIR4763,MIR4764,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RFPL2,RFPL3,RFPL3-AS1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SLC5A1,SLC5A4,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYN3,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TIMP3,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,YWHAH,ZC3H7B chr22 32236924 32237024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DEPDC5 chr2 232238001 232290000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARMC9,B3GNT7 chr2 232239606 232239685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 32239824 32240267 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DEPDC5 chr2 232247873 232247954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 232276080 232276531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 232280638 232286495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232280638 232286495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232283117 232284497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 232284479 232284626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232293382 233811025 LOH Normal High-resolution SNP genotyping 21211785 ALPI,ALPP,ALPPL2,C2orf57,C2orf82,CHRND,CHRNG,COPS7B,DIS3L2,ECEL1,ECEL1P2,EFHD1,EIF4E2,GIGYF2,KCNJ13,LINC00471,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR5001,NCL,NGEF,NMUR1,NPPC,PDE6D,PRSS56,PTMA,SNORA75,SNORD20,SNORD82,TIGD1 chr2 232293382 234160344 LOH Normal High-resolution SNP genotyping 21211785 ALPI,ALPP,ALPPL2,ATG16L1,C2orf57,C2orf82,CHRND,CHRNG,COPS7B,DIS3L2,ECEL1,ECEL1P2,EFHD1,EIF4E2,GIGYF2,INPP5D,KCNJ13,LINC00471,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR5001,NCL,NEU2,NGEF,NMUR1,NPPC,PDE6D,PRSS56,PTMA,SNORA75,SNORD20,SNORD82,TIGD1 chr2 232299500 233809750 LOH Normal High-resolution SNP genotyping 21211785 ALPI,ALPP,ALPPL2,C2orf57,C2orf82,CHRND,CHRNG,COPS7B,DIS3L2,ECEL1,ECEL1P2,EFHD1,EIF4E2,GIGYF2,KCNJ13,LINC00471,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,MIR5001,NCL,NGEF,NMUR1,NPPC,PDE6D,PRSS56,PTMA,SNORA75,SNORD20,SNORD82,TIGD1 chr2 232305388 232354245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCL,SNORA75,SNORD20,SNORD82 chr2 232305388 232354245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCL,SNORA75,SNORD20,SNORD82 chr22 32313617 32346226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C22orf24,YWHAH chr22 32330628 32330723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C22orf24 chr2 232330841 232330904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232336214 232336489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 232354625 232381679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00471 chr2 232354625 232381679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00471 chr2 232362330 232554274 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf57,LINC00471,NMUR1 chr2 232362330 232659171 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf57,COPS7B,LINC00471,MIR1244-1,MIR1244-2,MIR1244-3,NMUR1,PDE6D,PTMA chr2 232362330 232659171 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf57,COPS7B,LINC00471,MIR1244-1,MIR1244-2,MIR1244-3,NMUR1,PDE6D,PTMA chr2 232362330 232831363 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf57,COPS7B,DIS3L2,LINC00471,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,NMUR1,NPPC,PDE6D,PTMA chr2 232369719 232414402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00471,NMUR1 chr2 232382441 232385441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232386551 232386694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 232398741 232403754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 232399501 232401500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 32399805 32399925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 232401501 232497500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf57 chr2 232401740 232401812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 232401740 232401866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 32401847 32401896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 232402241 232415249 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 23241896 23242046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 232422641 232471478 Gain and loss Pancreatic cancer SNP array 17952125 C2orf57 chr22 32425327 32425461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 32430773 32430907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232443486 232443664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 232448102 232448165 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 32458982 32498663 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SLC5A1 chr2 232463465 232463565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 232465196 232465252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232476667 232498939 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 232485817 232659171 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 COPS7B,MIR1244-1,MIR1244-2,MIR1244-3,PDE6D,PTMA chr2 232490589 232504505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 32492973 32571270 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AP1B1P1,C22orf42,SLC5A1 chr22 32493356 32571270 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 AP1B1P1,C22orf42,SLC5A1 chr2 232493719 232516690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 32494349 32528033 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 AP1B1P1,SLC5A1 chr2 232494774 232499357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232494774 232499357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232496494 232525353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232497501 232500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 232498378 232499203 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr2 232499300 232528091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232500501 232506500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 232504624 232547425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232506501 232508500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 232515058 232533621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232527371 232572777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232532103 232556548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232532488 232557771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232532746 232556326 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232534537 232916529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COPS7B,DIS3L2,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,NPPC,PDE6D,PTMA chr2 232534537 232916529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPS7B,DIS3L2,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,NPPC,PDE6D,PTMA chr2 232553247 232555987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 32553886 32554886 Gain Osteosarcoma References 21215367 C22orf42 chr22 32554028 32555028 Gain Osteosarcoma References 21215367 C22orf42 chr2 232600527 233136984 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COPS7B,DIS3L2,MIR1471,NPPC,PDE6D chr2 232615640 232616464 Gain and loss Pancreatic cancer SNP array 17952125 PDE6D chr2 23263842 23308821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 232644209 232644309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE6D chr2 232651797 233033790 Gain and loss Pancreatic cancer SNP array 17952125 COPS7B,DIS3L2,MIR1471,NPPC chr2 232678150 232702497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 23271937 23297984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 32724462 32724557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 32732344 33426279 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 BPIFC,C22orf28,FBXO7,LOC339666,RFPL3,RFPL3-AS1,SYN3,TIMP3 chr2 232745607 232745701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 232749687 232754555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 232790573 232790610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPPC chr2 232818344 232818429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 32819681 32819942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BPIFC chr2 232846671 232891750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIS3L2 chr2 232855523 232855557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIS3L2 chr2 232891501 232962000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 232891550 232950278 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 DIS3L2 chr2 232901812 232912603 Gain Normal Birdsuite, version 1.5.2 22087296 DIS3L2 chr2 232911087 233013778 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DIS3L2 chr2 232911087 233013778 Copy number gain Normal High-resolution SNP genotyping 21211785 DIS3L2 chr2 232912603 233015080 Gain Normal Birdsuite, version 1.5.2 22087296 DIS3L2 chr2 232912603 233017310 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 DIS3L2 chr2 232915740 233013778 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DIS3L2 chr2 232915740 233013778 Copy number gain Normal High-resolution SNP genotyping 21211785 DIS3L2 chr2 232925392 233025886 Copy number loss Normal High-resolution SNP genotyping 21211785 DIS3L2 chr2 232931607 233025886 Copy number loss Normal High-resolution SNP genotyping 21211785 DIS3L2 chr2 232951592 232955841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 232951592 232955841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 232959742 232959873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 232979001 232983500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 232979796 232983666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 232979796 232983666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 232983501 232988000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 232988001 232994500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 232992310 232992392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIS3L2 chr2 233001095 233004814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIS3L2 chr2 233005001 233023000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 23301364 23331411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 233015080 233017310 Gain Normal Birdsuite, version 1.5.2 22087296 DIS3L2 chr2 233017310 233018302 Gain Normal Birdsuite, version 1.5.2 22087296 DIS3L2 chr2 233023001 233028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 233024517 233026305 Deletion Schizophrenia NimbleGen HD2 platform 21346763 DIS3L2 chr2 233028501 233033500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 233029077 233032984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 233029077 233032984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 233033501 233049500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 233039101 233043600 Deletion Glioma mate-paired sequence 20126413 DIS3L2 chr2 233040963 233041706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIS3L2 chr2 233043888 233227429 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 DIS3L2 chr2 233049501 233060500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr2 233052781 233060782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 233055414 233055414 Copy number Prostate cancer Illumina GA II sequencer 21307934 DIS3L2 chr2 233060501 233118000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DIS3L2 chr22 33068219 33107464 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SYN3 chr2 233068966 233073101 Gain and loss Pancreatic cancer SNP array 17952125 DIS3L2 chr2 233072791 233072983 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DIS3L2 chr2 233091182 233091416 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 DIS3L2 chr2 233097058 233100922 Gain and loss Pancreatic cancer SNP array 17952125 DIS3L2 chr2 233099142 233108544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 233099142 233108544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 233099165 233108449 Microdeletion sporadic congenital myasthenic syndrome RFLP, long-range PCR 16916845 DIS3L2 chr22 33103491 33103591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYN3 chr2 233112681 233119282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 233112681 233119282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 23311321 23366462 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 233120924 233123546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 233120924 233123546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr22 33122864 33122964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYN3 chr2 233123601 233156598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr2 233123601 233156598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIS3L2 chr22 33124787 33632518 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SYN3,TIMP3 chr22 33125081 33141362 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SYN3 chr2 233140744 233140824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIS3L2 chr22 33141790 33141890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYN3 chr2 233146370 233150245 Gain and loss Pancreatic cancer SNP array 17952125 DIS3L2 chr2 233160001 233271000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALPP,DIS3L2,ECEL1P2 chr2 233160441 233160541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIS3L2 chr2 233170042 233178043 Gain and loss Pancreatic cancer SNP array 17952125 DIS3L2 chr2 233179011 233255728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALPP,DIS3L2,ECEL1P2 chr2 233179011 233255728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALPP,DIS3L2,ECEL1P2 chr22 33196801 33259027 Copy number Carotid artery disease Nucleon Bacc3 DNA extraction kits 17901377 SYN3,TIMP3 chr2 233206022 233217548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DIS3L2 chr2 233212275 233213792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 233214075 233215703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 233216427 233225710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 233216435 233254327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALPP,ECEL1P2 chr2 233217190 233217238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 233222804 233223101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 233229963 233235931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 33230194 33231294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYN3,TIMP3 chr2 233238322 233240097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 233240862 233259424 Gain and loss Pancreatic cancer SNP array 17952125 ALPP,ECEL1P2 chr2 233251917 233252017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 233270259 233433529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALPI,ALPPL2,CHRND,CHRNG,ECEL1,EIF4E2,MIR5001,PRSS56,TIGD1 chr2 233270259 233433529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALPI,ALPPL2,CHRND,CHRNG,ECEL1,EIF4E2,MIR5001,PRSS56,TIGD1 chr2 233279713 233279787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 233302477 233303152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 233303111 233303211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 33315001 33317000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SYN3 chr22 33315077 33317270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYN3 chr22 33315077 33317270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYN3 chr2 233323773 233372990 Gain and loss Pancreatic cancer SNP array 17952125 ALPI,ECEL1 chr2 233327632 233345720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECEL1 chr2 233339104 233349519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ECEL1 chr2 233339104 233349519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECEL1 chr2 233340065 233340362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 33348224 33348279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYN3 chr22 33354379 33417259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SYN3 chr2 233369178 233369278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 233376616 233376920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 33385686 33516611 Copy number loss Normal High-resolution SNP genotyping 21211785 SYN3 chr2 233401607 233401705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 233408776 233513743 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CHRNG,EFHD1,EIF4E2,MIR5001,TIGD1 chr2 233419738 233420413 Gain and loss Pancreatic cancer SNP array 17952125 EIF4E2 chr2 233431003 233431539 Copy number Ewing's sarcoma Array CGH 19144156 EIF4E2 chr2 233441968 233449360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 233441968 233449360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 233442001 233444000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 233444001 233458000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 33450327 33450427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYN3 chr2 233450983 233451083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 233451000 233586000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 EFHD1,GIGYF2 chr2 233451665 233586182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFHD1,GIGYF2 chr2 233451665 233586182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFHD1,GIGYF2 chr2 233456680 233466780 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 233458001 233630000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EFHD1,GIGYF2 chr22 33467029 33467129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 233472880 233472967 Gain and loss Pancreatic cancer SNP array 17952125 EFHD1 chr2 233472880 233473008 Gain and loss Pancreatic cancer SNP array 17952125 EFHD1 chr2 23349164 23349264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 33501229 33501323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 233518868 233518963 Gain and loss Pancreatic cancer SNP array 17952125 EFHD1 chr2 233518868 233518964 Gain and loss Pancreatic cancer SNP array 17952125 EFHD1 chr2 233534870 233572713 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EFHD1,GIGYF2 chr2 233560499 233566612 Gain and loss Pancreatic cancer SNP array 17952125 GIGYF2 chr22 33562586 33562681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 233568926 233703443 Gain and loss Pancreatic cancer SNP array 17952125 GIGYF2,KCNJ13 chr22 33577860 33623883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 233585568 233588839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GIGYF2 chr2 233605000 233608000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 GIGYF2 chr2 233605321 233608350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GIGYF2 chr2 233605321 233608350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GIGYF2 chr2 233621111 233621201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GIGYF2 chr22 33624453 33629104 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 233630001 233637500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GIGYF2,KCNJ13 chr2 233633000 233781000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 C2orf82,GIGYF2,KCNJ13,NGEF chr2 233633433 233781287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf82,GIGYF2,KCNJ13,NGEF chr2 233633433 233781287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf82,GIGYF2,KCNJ13,NGEF chr2 233637501 234009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf82,GIGYF2,INPP5D,KCNJ13,NEU2,NGEF chr2 233651751 233651851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GIGYF2 chr22 33661041 33725126 Deletion Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 LARGE chr22 33669061 34316415 Deletion Prostate cancer aCGH 22341455 LARGE,LOC100506195,MIR4764 chr22 33669062 34318584 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LARGE,LOC100506195,MIR4764 chr22 33676474 33676574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARGE chr22 33683606 33717633 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LARGE chr22 33719903 33719953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARGE chr2 233722887 233725272 Gain and loss Pancreatic cancer SNP array 17952125 GIGYF2 chr2 233728856 233728934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 33743751 33743830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARGE chr2 233749385 233749724 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 NGEF chr2 233750688 233812432 Gain and loss Pancreatic cancer SNP array 17952125 NGEF chr22 33762965 33957507 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LARGE,MIR4764 chr22 33775501 35723600 Copy number Normal ReadDepth: A Parallel R Package 21305028 HMGXB4,ISX,LARGE,LOC100506195,MIR4764,TOM1 chr2 233784618 233784687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NGEF chr22 33785881 33786309 Loss or gain Normal 244K array 17666407 LARGE chr22 33786684 33807932 Gain and loss Pancreatic cancer SNP array 17952125 LARGE chr22 33787951 33799677 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LARGE chr2 233788396 233788675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NGEF chr22 33789000 33789410 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LARGE chr22 33792129 33816030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr22 33792129 33816030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr2 233795116 233806319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NGEF chr22 33801731 33801830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARGE chr2 233809750 233811217 Copy number loss Normal High-resolution SNP genotyping 21211785 NGEF chr2 233824000 233869000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NGEF chr2 233825057 233869059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NGEF chr2 233825057 233869059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NGEF chr2 23382867 23382967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 23383051 23383145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 233845710 233845893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NGEF chr2 233845766 233845866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NGEF chr2 233849112 233849387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NGEF chr2 233851681 233898548 Gain and loss Pancreatic cancer SNP array 17952125 NEU2,NGEF chr2 233862061 233862325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NGEF chr2 233881000 233920000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NEU2 chr2 233881206 233920440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEU2 chr2 233881206 233920440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEU2 chr22 33890297 33891340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr22 33900000 35320000 Gain Acute lymphoblastic leukemia - 21339820 LARGE,LOC100506195 chr22 33908000 35322000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 LARGE,LOC100506195 chr2 233913416 233913486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 233927000 234045000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 INPP5D chr2 233927892 234045482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5D chr2 233927892 234045482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5D chr2 233928376 233928464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5D chr22 33931077 33938722 Gain Normal 244K array 17666407 LARGE chr2 233942300 233986312 Gain and loss Pancreatic cancer SNP array 17952125 INPP5D chr22 33951413 33951513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARGE chr2 233953228 233953340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5D chr2 233966372 233966649 Gain and loss Pancreatic cancer SNP array 17952125 INPP5D chr22 33970041 33970560 Gain Normal 244K array 17666407 LARGE chr22 33970318 33970380 Gain and loss Pancreatic cancer SNP array 17952125 LARGE chr22 33973301 33978000 Deletion Glioma mate-paired sequence 20126413 LARGE chr22 33975165 33976139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LARGE chr22 33975166 33976142 Deletion small cell lung cancer array-CGH 20016488 LARGE chr22 33975445 33976472 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LARGE chr22 33978050 34016353 Gain and loss Pancreatic cancer SNP array 17952125 LARGE chr2 233979322 233979587 Gain and loss Pancreatic cancer SNP array 17952125 INPP5D chr22 33983489 34021799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr22 33983489 34021799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr2 233994406 233994506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP5D chr2 233994461 233994904 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP5D chr2 233998493 234037558 Gain and loss Pancreatic cancer SNP array 17952125 INPP5D chr2 234009001 234054500 Copy number Normal ReadDepth: A Parallel R Package 21305028 INPP5D chr22 34017009 34017109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARGE chr22 34020399 34068521 Gain and loss Pancreatic cancer SNP array 17952125 LARGE chr22 34025501 34071000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LARGE chr22 34025861 34073973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr22 34025861 34073973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr2 23403501 23427000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 234044178 234044228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP5D chr2 234045153 234162743 Gain and loss Pancreatic cancer SNP array 17952125 ATG16L1,INPP5D chr2 234048000 234134000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 INPP5D chr2 234048903 234134606 Gain or loss Breast cancer - 20668451 INPP5D chr2 234048903 234134606 Gain or loss Cancer - 20668451 INPP5D chr2 234048903 234134606 Gain or loss Lung cancer - 20668451 INPP5D chr2 234048903 234134606 Gain or loss Ovarian cancer - 20668451 INPP5D chr2 234048903 234134606 Gain or loss Pancreas cancer - 20668451 INPP5D chr2 234048903 234134606 Gain or loss Prostate cancer - 20668451 INPP5D chr2 234048905 234134623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP5D chr2 234048905 234134623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP5D chr22 34066998 34080582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LARGE chr2 234070491 234070601 Gain and loss Pancreatic cancer SNP array 17952125 INPP5D chr2 234070492 234070600 Gain and loss Pancreatic cancer SNP array 17952125 INPP5D chr22 34071001 34077000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LARGE chr22 34077001 34373500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LARGE,LOC100506195 chr22 34083930 34105700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LARGE chr2 234096678 234096678 Copy number Prostate cancer Illumina GA II sequencer 21307934 INPP5D chr22 34101641 34114748 Gain and loss Pancreatic cancer SNP array 17952125 LARGE chr22 34107087 34120194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr22 34107087 34120194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr22 34120682 34145048 Gain and loss Pancreatic cancer SNP array 17952125 LARGE,LOC100506195 chr22 34126116 34150494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARGE,LOC100506195 chr22 34126116 34150494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARGE,LOC100506195 chr2 234153392 234153492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 234158824 234159676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 234166436 234198949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATG16L1,SCARNA5,SCARNA6 chr2 234168038 234251884 Gain and loss Pancreatic cancer SNP array 17952125 ATG16L1,SAG,SCARNA5,SCARNA6 chr2 234176938 234177786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG16L1 chr2 234182045 234182145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATG16L1 chr2 234191000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ATG16L1,DGKD,SAG,SCARNA6 chr2 234191093 234346688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG16L1,DGKD,SAG,SCARNA6 chr2 234191093 234346688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG16L1,DGKD,SAG,SCARNA6 chr2 234208051 234209717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 234209000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD,SAG chr2 234221311 234222411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SAG chr22 34224536 34238401 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LARGE chr22 34227179 34238401 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LARGE chr22 34227854 34229579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr2 234245000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD,SAG chr2 234255000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD,SAG chr22 34261850 34274543 Gain and loss Pancreatic cancer SNP array 17952125 LARGE chr2 234265000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD chr22 34267296 34279987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr22 34267296 34279987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARGE chr22 34267297 34279991 Gain or loss Breast cancer - 20668451 LARGE chr22 34267297 34279991 Gain or loss Cancer - 20668451 LARGE chr22 34267297 34279991 Gain or loss Lung cancer - 20668451 LARGE chr22 34267297 34279991 Gain or loss Ovarian cancer - 20668451 LARGE chr22 34267297 34279991 Gain or loss Pancreas cancer - 20668451 LARGE chr22 34267297 34279991 Gain or loss Prostate cancer - 20668451 LARGE chr2 23427001 23428500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 23428501 23553000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 234286000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD chr2 234288747 234299140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DGKD chr2 234292000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD chr2 234293918 234294018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGKD chr2 234294907 234295450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKD chr2 234296217 234298725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DGKD chr2 234301355 238853232 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 AGAP1,ARL4C,ASB18,COL6A3,COPS8,CXCR7,DGKD,DNAJB3,GBX2,HJURP,IQCA1,LOC100286922,LRRFIP1,MLPH,MSL3P1,PRLH,RAB17,RAMP1,RBM44,SH3BP4,SPP2,TRPM8,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,USP40 chr2 234302000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD chr22 34304481 34304513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARGE chr22 34307200 34307292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARGE chr2 234308354 234309285 Gain and loss Pancreatic cancer SNP array 17952125 DGKD chr2 234312337 234315342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKD chr2 234315343 234329641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DGKD chr2 234316000 234317000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD chr22 34316430 34316467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 234316573 234317301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGKD chr2 234316573 234317301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKD chr2 234320599 234321464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKD chr2 234324002 234327041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKD chr22 34327311 34343901 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 234329945 234330030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGKD chr22 34332757 34349347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34332757 34349347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 234333000 234346000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 DGKD chr22 34347989 34355526 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 234351715 234406808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGKD,USP40 chr2 234351715 234406808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKD,USP40 chr2 234362538 234463949 Gain and loss Pancreatic cancer SNP array 17952125 DGKD,USP40 chr2 234363822 234364043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DGKD chr2 234366001 234405000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DGKD,USP40 chr22 34368924 34383457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34371206 34371458 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34373501 34376000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 34374370 34394401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34374370 34394401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34374388 34387350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34376652 34376904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34386706 34388953 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 234410000 234427000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 USP40 chr2 234410228 234427951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP40 chr2 234410228 234427951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP40 chr22 34412363 34766264 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 234413123 234452276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 USP40 chr2 234414047 234414147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP40 chr22 34420999 34421099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 34429796 34430147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34430412 34430614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 34430607 34430823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 234431025 234431110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP40 chr22 34433661 34465396 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 234433834 234434562 Gain and loss Pancreatic cancer SNP array 17952125 USP40 chr2 234438000 234441000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 USP40 chr22 34438419 34450030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34442168 34457019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 234443040 234443090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 USP40 chr22 34443865 34455476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34443865 34455476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34444630 34465180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 34451722 34482256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 34453482 34462573 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 34453703 34461272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 34457878 34457972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 34464147 34749049 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34464730 34754419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34464730 34754419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 234480522 234494840 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34482413 35495073 Gain Bladder cancer array-CGH 21909424 ISX chr2 234490000 234592000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 UGT1A10,UGT1A7,UGT1A8,UGT1A9 chr2 234490782 234592905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UGT1A10,UGT1A7,UGT1A8,UGT1A9 chr2 234490782 234592905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UGT1A10,UGT1A7,UGT1A8,UGT1A9 chr22 34509501 34511000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 234519201 234524063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34522671 34522771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 234528007 234545178 Gain and loss Pancreatic cancer SNP array 17952125 UGT1A10,UGT1A8 chr22 34543505 34564692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 234555438 234586724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UGT1A10,UGT1A8,UGT1A9 chr2 234556783 234558107 Gain and loss Pancreatic cancer SNP array 17952125 UGT1A10,UGT1A8 chr2 234570216 234570301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UGT1A10,UGT1A8 chr2 234608043 234710165 Gain and loss Pancreatic cancer SNP array 17952125 DNAJB3,LOC100286922,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 chr22 34618323 34652377 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 34623264 34624398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 234624000 234650000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 chr2 234624062 234650515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 chr2 234624062 234650515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 chr2 234653475 234653542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 chr2 234656616 234659681 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 chr22 34670529 34670900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34677402 34677502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 234729719 234729819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 234731641 234731698 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 34738711 34771285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 234741346 234767776 Gain and loss Pancreatic cancer SNP array 17952125 HJURP chr2 234742589 234742667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 23474985 23475488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 23475280 23500246 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 23475280 23519307 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 34753501 34755500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 234756284 234774918 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HJURP,MSL3P1 chr2 234758443 242951149 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 AGAP1,AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ARL4C,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GPC1,GPR35,HDAC4,HDLBP,HES6,HJURP,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MSL3P1,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SH3BP4,SNED1,SPP2,STK25,THAP4,TRAF3IP1,TRPM8,TWIST2,UBE2F,UBE2F-SCLY chr2 234769706 234784449 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MSL3P1 chr22 34773534 38422701 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,C1QTNF6,C22orf23,CACNG2,CARD10,CDC42EP1,CSF2RB,CYTH4,EIF3D,EIF3L,ELFN2,FOXRED2,GALR3,GCAT,GGA1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,ISX,KCTD17,LGALS1,LGALS2,LOC100506241,MB,MCM5,MFNG,MICALL1,MIR3909,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,PDXP,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SOX10,SSTR3,TEX33,TMPRSS6,TOM1,TRIOBP,TST,TXN2 chr2 234775823 234805896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MSL3P1 chr22 34791501 35010000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 34792200 34792280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 234814189 234814269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 234820918 234821445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34840374 34840479 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34845820 34845925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34860877 34886725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34866323 34962880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34866323 34962880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34870070 34916870 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 NOT_FOUND chr2 23487235 23487335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 34891246 34896822 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr22 34893412 34893480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34894430 34901494 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 34894512 34894578 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34897159 34897223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34898380 34898449 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34898416 34898773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34898858 34898926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34898928 34899942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34899941 34900008 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34899958 34900024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34900006 34900077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34900118 34900185 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34900255 34900816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34901161 34901848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34901811 34905204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 34901851 34902520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34902605 34902669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34903826 34903895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34904548 34905379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34905452 34905523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34905564 34905631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34911623 34925379 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34915123 34930825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34915123 34930825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 234924616 234926230 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRPM8 chr2 234925126 234925185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPM8 chr22 34941910 34942910 Gain Osteosarcoma References 21215367 NOT_FOUND chr22 34941922 34942922 Loss Osteosarcoma References 21215367 NOT_FOUND chr22 34942946 34944264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 34944256 35046347 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 34946755 34960500 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34952201 34965946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34952201 34965946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34959867 41038063 Loss Neuroblastoma aCGH 20406844 ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ATF4,BAIAP2L2,C1QTNF6,C22orf23,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3D,EIF3L,ELFN2,ENTHD1,FAM227A,FAM83F,FOXRED2,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,LGALS1,LGALS2,LOC100130899,LOC100506241,LOC100506472,LOC400927,MAFF,MB,MCM5,MFNG,MGAT3,MICALL1,MIR3909,MIR4534,MIR658,MIR659,MKL1,MPST,MYH9,NCF4,NOL12,NPTXR,PDGFB,PDXP,PICK1,PLA2G6,POLR2F,PVALB,RAC2,RASD2,RBFOX2,RNU86,RPL3,RPS19BP1,SGSM3,SH3BP1,SLC16A8,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SSTR3,SUN2,SYNGR1,TAB1,TEX33,TMEM184B,TMPRSS6,TNRC6B,TOM1,TOMM22,TRIOBP,TST,TXN2 chr22 34973624 34988077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 34979070 34993523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 34979070 34993523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 234984252 234984348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPP2 chr2 234987559 235020747 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 34990337 34994494 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr22 35001823 35108413 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35007273 35113958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35007273 35113958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35010001 35063000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 35043725 35197506 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr22 35044231 35081155 Duplication small cell lung cancer array-CGH 20016488 NOT_FOUND chr22 35053803 35068611 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr22 35063001 35188000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 235066000 235070000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr22 35066178 35066237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 235066424 235070436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 235066424 235070436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35073819 48589335 Substitutions and indels small cell lung cancer array-CGH 20016488 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR33A,MIR3619,MIR3909,MIR4534,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35088480 35188575 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 35111626 35215598 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 35147264 35147635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35161427 35161515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35162859 35162959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 235186652 235187230 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35187593 35202187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35188001 35194000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 23519054 23519154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35193039 35207633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35193039 35207633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35194001 35338000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 23520222 23843124 Gain and loss Pancreatic cancer SNP array 17952125 KLHL29 chr22 35203223 35203286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35204043 35204133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35208804 35227569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35211624 35211718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35214235 35233033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35214235 35233033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35221772 35255223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35221772 35255223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35231063 35366534 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 35231398 35249983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35242696 35265195 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 35243488 35243588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35257199 35258151 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35262645 35263597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35262645 35263597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35268939 35269039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35273183 35279707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 35284604 35423403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35290050 35428836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35290050 35428836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 235300000 237000000 Copy number Normal - 21701786 AGAP1,ARL4C,SH3BP4 chr2 235319145 235347119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 23533201 23533641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 235355939 235356013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 235377095 235377150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 235384955 235384987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 235387350 235387407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 235426275 235427801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 35428857 35436777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 35448230 35487624 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ISX chr22 35452519 35480233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ISX chr2 235453160 235453223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35457020 35457191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 35459443 35483820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ISX chr22 35462129 35483379 Deletion Prostate cancer aCGH 22341455 ISX chr22 35462846 35469055 Gain Normal 244K array 17666407 ISX chr22 35464123 35485959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ISX chr22 35465019 35473655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ISX chr22 35465251 35493026 Copy number Alcoholism Illumina Human Hap662W-Quad BeadChip 21790672 ISX chr22 35465251 35493026 Copy number Normal - 21790672 ISX chr22 35465459 35514794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ISX chr22 35467265 35467350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ISX chr22 35468290 35471525 Loss or gain Normal 244K array 17666407 ISX chr22 35469501 35648500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ISX chr22 35472432 35478431 Deletion Normal TaqMan assays 20972442 ISX chr22 35473021 35474303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ISX chr22 35473116 35477841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ISX chr22 35473303 35476957 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ISX chr22 35473307 35477752 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ISX chr2 235477006 235477316 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 35477032 35477737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ISX chr22 35478755 35496655 Gain and loss Pancreatic cancer SNP array 17952125 ISX chr22 35484201 35502115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35484201 35502115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 235490676 235490776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35495667 35530255 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 35497452 35542362 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 35499654 35533870 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 35499654 35569272 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 35499654 35569272 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 35499654 35685405 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGXB4 chr22 35499654 35685405 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 HMGXB4 chr2 235503809 235503893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35521399 35540023 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 235525000 235629000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 235525367 235629095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 235525367 235629095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35526674 35545463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35526674 35545463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 23553001 23763500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL29 chr2 235547001 235626500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 35568098 35568680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35573544 35574126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35577067 35598207 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 35581530 35598557 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35586976 35604005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35586976 35604005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35601401 35613195 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 23563069 23563154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35639616 35666437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HMGXB4 chr22 35639616 35666437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGXB4 chr2 235642686 235746356 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35642722 35659318 Gain and loss Pancreatic cancer SNP array 17952125 HMGXB4 chr22 35648501 35664500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HMGXB4 chr22 35653444 35691799 Deletion Prostate cancer aCGH 22341455 HMGXB4 chr2 235660276 235660370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35664501 35736000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HMGXB4,MIR3909,TOM1 chr22 35669022 35669099 Gain and loss Pancreatic cancer SNP array 17952125 HMGXB4 chr22 35674468 35674545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGXB4 chr2 235675473 235676118 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 235675665 235676007 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr2 235675666 235675851 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 35676517 35679710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGXB4 chr22 35686144 49441620 Loss Prostate cancer Array CGH 18632612 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HMGXB4,HMOX1,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MCM5,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR3909,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35686895 35686995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HMGXB4 chr22 35691235 35694159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMGXB4 chr2 235693949 235694049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35695267 35743986 Deletion Prostate cancer aCGH 22341455 MIR3909,TOM1 chr2 235709775 235709875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35711679 35728339 Gain and loss Pancreatic cancer SNP array 17952125 TOM1 chr22 35711902 35712081 Gain and loss Pancreatic cancer SNP array 17952125 TOM1 chr2 235715229 235743612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 35717112 35733789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3909,TOM1 chr22 35717112 35733789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3909,TOM1 chr2 235719154 235719254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 235720690 236144659 Gain small cell lung cancer Real-time Quantitative PCR 17426248 SH3BP4 chr22 35723601 38456000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,C1QTNF6,C22orf23,CACNG2,CARD10,CDC42EP1,CSF2RB,CYTH4,EIF3D,EIF3L,ELFN2,FOXRED2,GALR3,GCAT,GGA1,H1F0,HMOX1,IFT27,IL2RB,KCTD17,LGALS1,LGALS2,LOC100506241,MB,MCM5,MFNG,MICALL1,MIR3909,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,PDXP,PICK1,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SOX10,SSTR3,TEX33,TMPRSS6,TOM1,TRIOBP,TST,TXN2 chr2 235727248 235727338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35731407 35739991 Gain and loss Pancreatic cancer SNP array 17952125 MIR3909,TOM1 chr22 35732810 35764210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TOM1 chr22 35733766 35733858 Gain and loss Pancreatic cancer SNP array 17952125 TOM1 chr22 35733775 35733857 Gain and loss Pancreatic cancer SNP array 17952125 TOM1 chr22 35736001 35750500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TOM1 chr22 35736846 35745454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOM1 chr22 35736846 35745454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOM1 chr22 35736851 35745437 Copy number Gastric cancer Human cDNA microarrays 17229543 TOM1 chr22 35740291 35750363 Gain and loss Pancreatic cancer SNP array 17952125 TOM1 chr22 35745622 35755808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35745622 35755808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35750501 35769000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 35769001 35971500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HMOX1,MCM5,RASD2 chr22 35772116 35783930 Gain and loss Pancreatic cancer SNP array 17952125 HMOX1 chr22 35775559 35775887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35775648 35775887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35777059 35790206 Deletion Prostate cancer aCGH 22341455 HMOX1 chr22 35777562 35789376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HMOX1 chr22 35777562 35789376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMOX1 chr22 35781019 35781333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HMOX1 chr22 35784830 35788007 Gain and loss Pancreatic cancer SNP array 17952125 HMOX1 chr22 35785976 35829949 Gain and loss Pancreatic cancer SNP array 17952125 HMOX1,MCM5 chr22 35791422 35835549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCM5 chr22 35791422 35835549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM5 chr22 35796115 35820494 Deletion Prostate cancer aCGH 22341455 MCM5 chr22 35808054 35808154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCM5 chr2 235815428 235847180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 235837673 235838105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35840515 39200734 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,C1QTNF6,C22orf23,CACNG2,CARD10,CBY1,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3D,EIF3L,ELFN2,FAM227A,FOXRED2,GALR3,GCAT,GGA1,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,LGALS1,LGALS2,LOC100506241,LOC400927,MAFF,MB,MFNG,MICALL1,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,PDXP,PICK1,PLA2G6,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SLC16A8,SOX10,SSTR3,SUN2,TEX33,TMEM184B,TMPRSS6,TOMM22,TRIOBP,TST,TXN2 chr22 35843159 35843249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35846385 35870462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35851824 35875976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35851824 35875976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35862988 36046458 Duplication Schizophrenia NimbleGen HD2 platform 21346763 APOL6,MB,RASD2 chr2 235899741 235899834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3BP4 chr22 35900000 39300000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,C1QTNF6,C22orf23,CACNG2,CARD10,CBX6,CBY1,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3D,EIF3L,ELFN2,FAM227A,FOXRED2,GALR3,GCAT,GGA1,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,LGALS1,LGALS2,LOC100506241,LOC400927,MAFF,MB,MFNG,MICALL1,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,NPTXR,PDXP,PICK1,PLA2G6,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SLC16A8,SOX10,SSTR3,SUN2,TEX33,TMEM184B,TMPRSS6,TOMM22,TRIOBP,TST,TXN2 chr22 35900000 39300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,C1QTNF6,C22orf23,CACNG2,CARD10,CBX6,CBY1,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3D,EIF3L,ELFN2,FAM227A,FOXRED2,GALR3,GCAT,GGA1,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,LGALS1,LGALS2,LOC100506241,LOC400927,MAFF,MB,MFNG,MICALL1,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,NPTXR,PDXP,PICK1,PLA2G6,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SLC16A8,SOX10,SSTR3,SUN2,TEX33,TMEM184B,TMPRSS6,TOMM22,TRIOBP,TST,TXN2 chr22 35900000 39300000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,C1QTNF6,C22orf23,CACNG2,CARD10,CBX6,CBY1,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3D,EIF3L,ELFN2,FAM227A,FOXRED2,GALR3,GCAT,GGA1,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,LGALS1,LGALS2,LOC100506241,LOC400927,MAFF,MB,MFNG,MICALL1,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,NPTXR,PDXP,PICK1,PLA2G6,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SLC16A8,SOX10,SSTR3,SUN2,TEX33,TMEM184B,TMPRSS6,TOMM22,TRIOBP,TST,TXN2 chr22 35900000 39300000 Copy number Normal - 21701786 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,C1QTNF6,C22orf23,CACNG2,CARD10,CBX6,CBY1,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3D,EIF3L,ELFN2,FAM227A,FOXRED2,GALR3,GCAT,GGA1,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,LGALS1,LGALS2,LOC100506241,LOC400927,MAFF,MB,MFNG,MICALL1,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,NPTXR,PDXP,PICK1,PLA2G6,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SLC16A8,SOX10,SSTR3,SUN2,TEX33,TMEM184B,TMPRSS6,TOMM22,TRIOBP,TST,TXN2 chr22 35900000 39300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,C1QTNF6,C22orf23,CACNG2,CARD10,CBX6,CBY1,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3D,EIF3L,ELFN2,FAM227A,FOXRED2,GALR3,GCAT,GGA1,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,LGALS1,LGALS2,LOC100506241,LOC400927,MAFF,MB,MFNG,MICALL1,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,NPTXR,PDXP,PICK1,PLA2G6,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SLC16A8,SOX10,SSTR3,SUN2,TEX33,TMEM184B,TMPRSS6,TOMM22,TRIOBP,TST,TXN2 chr22 35900000 39300000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ANKRD54,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,BAIAP2L2,C1QTNF6,C22orf23,CACNG2,CARD10,CBX6,CBY1,CDC42EP1,CSF2RB,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3D,EIF3L,ELFN2,FAM227A,FOXRED2,GALR3,GCAT,GGA1,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,LGALS1,LGALS2,LOC100506241,LOC400927,MAFF,MB,MFNG,MICALL1,MIR4534,MIR658,MIR659,MPST,MYH9,NCF4,NOL12,NPTXR,PDXP,PICK1,PLA2G6,POLR2F,PVALB,RAC2,RASD2,RBFOX2,SH3BP1,SLC16A8,SOX10,SSTR3,SUN2,TEX33,TMEM184B,TMPRSS6,TOMM22,TRIOBP,TST,TXN2 chr22 35900000 42600000 Duplication Mental retardation \N 21062444 ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ATF4,BAIAP2L2,C1QTNF6,C22orf23,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CENPM,CHADL,CSDC2,CSF2RB,CSNK1E,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM227A,FAM83F,FOXRED2,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,L3MBTL2,LGALS1,LGALS2,LINC00634,LOC100130899,LOC100132273,LOC100506241,LOC100506472,LOC400927,MAFF,MB,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1281,MIR33A,MIR4534,MIR4766,MIR658,MIR659,MKL1,MPST,MYH9,NAGA,NCF4,NDUFA6,NHP2L1,NOL12,NPTXR,PDGFB,PDXP,PHF5A,PICK1,PLA2G6,PMM1,POLR2F,POLR3H,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RNU86,RPL3,RPS19BP1,SEPT3,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SUN2,SYNGR1,TAB1,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TST,TXN2,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Copy number Phelan-Mcdermid syndrome MLPA 22283845 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Deletion Autism from references 18923514 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Deletion Autism high-density microarrays 22241247 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Deletion Phelan-Mcdermid syndrome FISH, 22q13 MLPA analysis, or oligonucleotide-based aCGH (44k, 105k, 180k or 244k Agilent platforms) 21779178 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Deletion Phelan-Mcdermid syndrome subtelomere-FISH or array-CGH analysis 21779178 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Loss Cancer array-based techniques 21183584 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900000 49691432 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35900706 35908830 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35906152 35914276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35906152 35914276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35907489 35907589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35907828 49507828 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MB,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RASD2,RBFOX2,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 35926745 35932853 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 35932098 35938362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASD2 chr22 35932098 35938362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASD2 chr22 35932190 35938299 Gain or loss Breast cancer - 20668451 RASD2 chr22 35932190 35938299 Gain or loss Cancer - 20668451 RASD2 chr22 35932190 35938299 Gain or loss Lung cancer - 20668451 RASD2 chr22 35932190 35938299 Gain or loss Ovarian cancer - 20668451 RASD2 chr22 35932190 35938299 Gain or loss Pancreas cancer - 20668451 RASD2 chr22 35932190 35938299 Gain or loss Prostate cancer - 20668451 RASD2 chr2 235932750 235932828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3BP4 chr22 35941724 35941877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASD2 chr22 35945812 35964810 Gain and loss Pancreatic cancer SNP array 17952125 RASD2 chr22 35951255 35970251 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 35951255 35970251 Gain or loss Cancer - 20668451 NOT_FOUND chr22 35951255 35970251 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 35951255 35970251 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 35951255 35970251 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 35951255 35970251 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 35951258 35970434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 35951258 35970434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 235970541 235970627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 35971501 36009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MB chr22 36002924 36035880 Gain and loss Pancreatic cancer SNP array 17952125 MB chr22 36003989 36444264 Gain Anaplastic thyroid cancer 33K microarrays 18753363 APOL5,APOL6,MB,RBFOX2 chr22 36008370 36041326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MB chr22 36008370 36041326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MB chr22 36009001 36092500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOL6,MB chr2 236013355 236013455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 36027542 36027623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 23603257 23603357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 36037327 36805038 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,MYH9,RBFOX2 chr2 236059901 236063800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 236064501 236328500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 236066909 236067008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 236067000 236698000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 AGAP1 chr2 236067472 236699937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP1 chr2 236067472 236699937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP1 chr22 36072401 36081600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr22 36072748 36075317 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36074335 36079974 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 36078184 36080763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36078184 36080763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36092501 36153000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOL5,RBFOX2 chr22 36093612 36096077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36093946 36153451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOL5,RBFOX2 chr22 36093946 36153451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOL5,RBFOX2 chr2 236098855 236098975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 236098928 236098973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 236098960 236099232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 236100000 242800000 Duplication abnormal development HR-CGH, Array-CGH 18461090 AGAP1,AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 236115922 236115980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 236115989 236116056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 36121815 36122007 Gain Normal 244K array 17666407 APOL5 chr22 36125504 36125659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APOL5 chr2 236145314 236145386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36153001 36559500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOL3,RBFOX2 chr22 36153769 36153856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX2 chr22 36163141 36163233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX2 chr2 236185331 236815891 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr2 236188725 236188825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 36189603 36206885 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36195048 36212331 Gain or loss Breast cancer - 20668451 RBFOX2 chr22 36195048 36212331 Gain or loss Cancer - 20668451 RBFOX2 chr22 36195048 36212331 Gain or loss Lung cancer - 20668451 RBFOX2 chr22 36195048 36212331 Gain or loss Ovarian cancer - 20668451 RBFOX2 chr22 36195048 36212331 Gain or loss Pancreas cancer - 20668451 RBFOX2 chr22 36195048 36212331 Gain or loss Prostate cancer - 20668451 RBFOX2 chr22 36195054 36212385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36195054 36212385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr2 236195133 236195233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 36202750 36202850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX2 chr22 36205328 36245324 Gain or loss Breast cancer - 20668451 RBFOX2 chr22 36205328 36245324 Gain or loss Cancer - 20668451 RBFOX2 chr22 36205328 36245324 Gain or loss Lung cancer - 20668451 RBFOX2 chr22 36205328 36245324 Gain or loss Ovarian cancer - 20668451 RBFOX2 chr22 36205328 36245324 Gain or loss Pancreas cancer - 20668451 RBFOX2 chr22 36205328 36245324 Gain or loss Prostate cancer - 20668451 RBFOX2 chr2 236205426 236205521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 236205656 236467669 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGAP1 chr22 36210905 36239747 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr2 236214299 236258538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36216346 36245495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36216346 36245495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36235724 36235961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBFOX2 chr2 236253778 236253850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 23626535 23626595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr22 36281000 36289906 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36286416 36295356 Translate Myeloproliferative neoplasm Affymetrix Genome-wide Human SNP Array 6.0 20824076 RBFOX2 chr22 36286416 36295356 Translate Non-Hodgkin's lymphomas Affymetrix Genome-wide Human SNP Array 6.0 20824076 RBFOX2 chr22 36286446 36295358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36286446 36295358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36289735 36833059 LOH Normal High-resolution SNP genotyping 21211785 APOL1,APOL2,APOL3,APOL4,MYH9,RBFOX2 chr22 36290765 36300564 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36292379 37049521 LOH Normal High-resolution SNP genotyping 21211785 APOL1,APOL2,APOL3,APOL4,CACNG2,EIF3D,FOXRED2,MYH9,RBFOX2,TXN2 chr22 36296211 36306010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36296211 36306010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr2 236308261 236308405 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 236308328 236308472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 36328377 36519239 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RBFOX2 chr22 36328377 36590378 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 APOL3,APOL4,RBFOX2 chr2 236328501 236729500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP1 chr22 36329003 36354072 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36334449 36359516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36334449 36359516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr2 236337827 236338671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 23634407 23634507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr2 236347238 236349177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 236359684 236359818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36360265 36376545 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36365630 36381995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36365630 36381995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36367924 36374369 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36379237 36387439 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36384683 36392885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36384683 36392885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36389971 36390246 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36395417 36395692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36396113 36400290 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36401559 36405753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36401559 36405753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36406861 36413983 Gain and loss Pancreatic cancer SNP array 17952125 RBFOX2 chr22 36410065 36410132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX2 chr22 36412290 36419431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36412290 36419431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36412306 36412406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBFOX2 chr2 236414455 242701103 Loss Autism Array CGH 18522746 AGAP1,AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GBX2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,OR6B2,OR6B3,OTOS,PASK,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr22 36422957 36502509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr22 36422957 36502509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBFOX2 chr2 23642958 23643058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr22 36433244 36433335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 36445220 36495016 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 236454171 236454271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr2 236455288 236532795 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr2 236484157 236484257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr2 236503112 236503171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr22 36506033 36506110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36511479 36511556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 236518480 236518580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr2 236523236 236523336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr22 36525674 36527943 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36528445 36537683 Gain and loss Pancreatic cancer SNP array 17952125 APOL3 chr22 36531060 36533388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36531060 36533388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36533858 36543129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOL3 chr22 36533858 36543129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOL3 chr22 36543889 36546002 Gain and loss Pancreatic cancer SNP array 17952125 APOL3 chr22 36549335 36551448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOL3 chr22 36549335 36551448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOL3 chr22 36551363 36564820 Gain and loss Pancreatic cancer SNP array 17952125 APOL3 chr22 36556809 36570274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOL3 chr22 36556809 36570274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOL3 chr22 36559091 36559191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APOL3 chr2 23655920 23656012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr22 36559501 36631000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOL2,APOL3,APOL4 chr22 36560118 36560198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APOL3 chr22 36569375 36609135 Gain and loss Pancreatic cancer SNP array 17952125 APOL4 chr22 36570225 36570324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36573000 42246000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL4,ATF4,BAIAP2L2,C1QTNF6,C22orf23,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CHADL,CSDC2,CSF2RB,CSNK1E,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM227A,FAM83F,FOXRED2,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,L3MBTL2,LGALS1,LGALS2,LOC100130899,LOC100506241,LOC100506472,LOC400927,MAFF,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1281,MIR4534,MIR4766,MIR658,MIR659,MKL1,MPST,MYH9,NCF4,NHP2L1,NOL12,NPTXR,PDGFB,PDXP,PHF5A,PICK1,PLA2G6,PMM1,POLR2F,POLR3H,PVALB,RAC2,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SGSM3,SH3BP1,SLC16A8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SUN2,SYNGR1,TAB1,TEF,TEX33,TMEM184B,TMPRSS6,TNRC6B,TOB2,TOMM22,TRIOBP,TST,TXN2,XPNPEP3,XRCC6,ZC3H7B chr22 36573631 36573727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36575274 36614583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOL4 chr22 36575274 36614583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOL4 chr22 36600186 36600310 Gain and loss Pancreatic cancer SNP array 17952125 APOL4 chr22 36611854 36611955 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36617300 36617401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36626878 36664104 Gain and loss Pancreatic cancer SNP array 17952125 APOL1,APOL2 chr22 36630803 49549722 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 A4GALT,ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,C1QTNF6,C22orf23,C22orf26,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,FOXRED2,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506241,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,MAFF,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,MPST,MYH9,NAGA,NCF4,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PKDREJ,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,PVALB,RAC2,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TRMU,TSPO,TST,TTC38,TTLL1,TTLL12,TXN2,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 36631001 36861500 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOL1,APOL2,MYH9 chr22 36631681 36631781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APOL2 chr22 36632292 36667971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOL1,APOL2 chr22 36632292 36667971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOL1,APOL2 chr2 236641783 236955732 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGAP1 chr22 36664033 36674105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36669474 36679622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr22 36669474 36679622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr22 36674192 36688305 Gain and loss Pancreatic cancer SNP array 17952125 MYH9 chr2 236674661 236674761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr22 36679650 36767059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr22 36679650 36767059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr2 236690789 236690889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr22 36692808 36707929 Gain and loss Pancreatic cancer SNP array 17952125 MYH9 chr22 36698253 36713375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr22 36698253 36713375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr22 36698264 36713375 Duplication Disorders of sex development - 22290220 MYH9 chr22 36706442 36708837 Gain and loss Pancreatic cancer SNP array 17952125 MYH9 chr2 236707692 236707763 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr22 36715598 36734810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr2 236726454 236726555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP1 chr2 236727895 236727955 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr2 236729501 236742500 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP1 chr2 236734464 236985359 Loss Normal 244K array 17666407 AGAP1 chr2 236738411 236738465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr2 236739000 236741000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 AGAP1 chr2 236739046 236741391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP1 chr2 236739046 236741391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP1 chr2 236742501 238045000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGAP1,ASB18,COPS8,CXCR7,GBX2,IQCA1 chr22 36758118 36760181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr22 36761069 36761101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH9 chr2 236766318 236768583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGAP1 chr2 236766834 236837727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP1 chr2 236768000 236837000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 AGAP1 chr22 36777762 36796207 Gain and loss Pancreatic cancer SNP array 17952125 MYH9 chr22 36780000 42240000 Gain Acute lymphoblastic leukemia - 21339820 ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,BAIAP2L2,C1QTNF6,C22orf23,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CHADL,CSDC2,CSF2RB,CSNK1E,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM227A,FAM83F,FOXRED2,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,L3MBTL2,LGALS1,LGALS2,LOC100130899,LOC100506241,LOC100506472,LOC400927,MAFF,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1281,MIR4534,MIR4766,MIR658,MIR659,MKL1,MPST,MYH9,NCF4,NHP2L1,NOL12,NPTXR,PDGFB,PDXP,PHF5A,PICK1,PLA2G6,PMM1,POLR2F,POLR3H,PVALB,RAC2,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SGSM3,SH3BP1,SLC16A8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SUN2,SYNGR1,TAB1,TEF,TEX33,TMEM184B,TMPRSS6,TNRC6B,TOB2,TOMM22,TRIOBP,TST,TXN2,XPNPEP3,XRCC6,ZC3H7B chr22 36782000 42371000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,BAIAP2L2,C1QTNF6,C22orf23,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CENPM,CHADL,CSDC2,CSF2RB,CSNK1E,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM227A,FAM83F,FOXRED2,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,L3MBTL2,LGALS1,LGALS2,LINC00634,LOC100130899,LOC100506241,LOC100506472,LOC400927,MAFF,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1281,MIR33A,MIR4534,MIR4766,MIR658,MIR659,MKL1,MPST,MYH9,NCF4,NHP2L1,NOL12,NPTXR,PDGFB,PDXP,PHF5A,PICK1,PLA2G6,PMM1,POLR2F,POLR3H,PVALB,RAC2,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SUN2,SYNGR1,TAB1,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TST,TXN2,XPNPEP3,XRCC6,ZC3H7B chr22 36783208 36801653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr22 36783208 36801653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH9 chr2 236783755 236783930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP1 chr22 36798645 36803649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 236803653 236803753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr22 36804093 36809116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36804093 36809116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36805410 36831176 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 36805857 42644647 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACO2,ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,BAIAP2L2,C1QTNF6,C22orf23,C22orf32,C22orf46,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CENPM,CHADL,CSDC2,CSF2RB,CSNK1E,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EIF3D,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM227A,FAM83F,FOXRED2,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,IFT27,IL2RB,JOSD1,KCNJ4,KCTD17,KDELR3,L3MBTL2,LGALS1,LGALS2,LINC00634,LOC100130899,LOC100132273,LOC100506241,LOC100506472,LOC400927,MAFF,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIR1281,MIR33A,MIR4534,MIR4766,MIR658,MIR659,MKL1,MPST,NAGA,NCF4,NDUFA6,NHP2L1,NOL12,NPTXR,PDGFB,PDXP,PHF5A,PICK1,PLA2G6,PMM1,POLR2F,POLR3H,PVALB,RAC2,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SEPT3,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SUN2,SYNGR1,TAB1,TCF20,TEF,TEX33,TMEM184B,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRIOBP,TST,TXN2,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 36810843 36836622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36810843 36836622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 236812818 236812896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGAP1 chr2 236814691 236814691 Copy number Prostate cancer Illumina GA II sequencer 21307934 AGAP1 chr22 36826042 36834308 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 36827382 36902317 Gain and loss Pancreatic cancer SNP array 17952125 FOXRED2,TXN2 chr22 36837449 36907782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3D,FOXRED2,TXN2 chr22 36837449 36907782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3D,FOXRED2,TXN2 chr2 236843717 236843816 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr2 236856307 236858652 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr22 36861501 37197500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNG2,EIF3D,FOXRED2,IFT27,PVALB,TXN2 chr2 236884095 236932258 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr2 236893003 236912344 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 AGAP1 chr2 236897000 237080000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 AGAP1,GBX2 chr2 236897533 237080924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGAP1,GBX2 chr2 236897533 237080924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGAP1,GBX2 chr2 236901017 236901188 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr2 236901017 236901191 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1 chr22 36922202 36922292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF3D chr22 36922498 36937010 Gain and loss Pancreatic cancer SNP array 17952125 EIF3D chr22 36927944 36942458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36927944 36942458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 36939805 36993496 Gain and loss Pancreatic cancer SNP array 17952125 CACNG2 chr22 36945244 36998962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr22 36945244 36998962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr22 36952227 36952506 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 236954474 236954569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr22 36955540 36956166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 36957672 36957944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr22 36957673 36957952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr2 236957684 236957784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGAP1 chr2 237000000 242951149 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGAP1,AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 237000000 242951149 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 AGAP1,AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 237000000 242951149 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGAP1,AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 237000000 242951149 Indels Malaria PCR,Delta Delta Ct 21533027 AGAP1,AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 237000000 242951149 Microdeletion Kartagener syndrome reference 16639409 AGAP1,AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GBX2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr22 37011198 37119027 Gain and loss Pancreatic cancer SNP array 17952125 CACNG2 chr2 237014796 237198175 Gain and loss Pancreatic cancer SNP array 17952125 AGAP1,ASB18,GBX2 chr22 37016642 37124473 Gain or loss Breast cancer - 20668451 CACNG2 chr22 37016642 37124473 Gain or loss Cancer - 20668451 CACNG2 chr22 37016642 37124473 Gain or loss Lung cancer - 20668451 CACNG2 chr22 37016642 37124473 Gain or loss Ovarian cancer - 20668451 CACNG2 chr22 37016642 37124473 Gain or loss Pancreas cancer - 20668451 CACNG2 chr22 37016642 37124473 Gain or loss Prostate cancer - 20668451 CACNG2 chr22 37016644 37124473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr22 37016644 37124473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr2 237020248 237020890 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 AGAP1 chr2 237020254 237020948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AGAP1 chr22 37066586 37067901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNG2 chr22 37072196 37124473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr22 37072196 37124473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr22 37076576 37076641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNG2 chr22 37085370 37089054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNG2 chr2 237086580 237141739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB18 chr22 37097865 37097965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNG2 chr2 237098685 237099687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 237100000 242800000 Deletion abnormal development HR-CGH, Array-CGH 18461090 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ASB18,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr22 37110234 37110331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 23712729 23714460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL29 chr2 237131342 237176246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASB18 chr2 237134162 237155733 Gain or loss Breast cancer - 20668451 ASB18 chr2 237134162 237155733 Gain or loss Cancer - 20668451 ASB18 chr2 237134162 237155733 Gain or loss Lung cancer - 20668451 ASB18 chr2 237134162 237155733 Gain or loss Ovarian cancer - 20668451 ASB18 chr2 237134162 237155733 Gain or loss Pancreas cancer - 20668451 ASB18 chr2 237134162 237155733 Gain or loss Prostate cancer - 20668451 ASB18 chr22 37139765 37139820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 237143000 237155000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ASB18 chr2 237143119 237155731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB18 chr2 237143119 237155731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB18 chr22 37146832 37175703 Gain and loss Pancreatic cancer SNP array 17952125 IFT27 chr2 237148284 237148357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASB18 chr2 23715114 24866401 LOH Normal High-resolution SNP genotyping 21211785 ATAD2B,C2orf44,FAM228A,FAM228B,FKBP1B,ITSN2,KLHL29,MFSD2B,NCOA1,PFN4,SF3B14,TP53I3,UBXN2A chr22 37152278 37181149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT27 chr22 37152278 37181149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT27 chr22 37152369 37153311 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 23717062 23769018 Gain Normal Birdsuite, version 1.5.2 22087296 KLHL29 chr22 37188583 37203945 Gain and loss Pancreatic cancer SNP array 17952125 PVALB chr2 23718946 23783038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL29 chr22 37194029 37209391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PVALB chr22 37194029 37209391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PVALB chr2 237202187 237202441 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 37203943 37226816 Gain and loss Pancreatic cancer SNP array 17952125 PVALB chr22 37209415 37232291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PVALB chr22 37209415 37232291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PVALB chr2 23722654 24866401 LOH Normal High-resolution SNP genotyping 21211785 ATAD2B,C2orf44,FAM228A,FAM228B,FKBP1B,ITSN2,KLHL29,MFSD2B,NCOA1,PFN4,SF3B14,TP53I3,UBXN2A chr2 23723152 24230135 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATAD2B,KLHL29,UBXN2A chr22 37239454 37290689 Gain and loss Pancreatic cancer SNP array 17952125 NCF4 chr22 37244900 37296135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCF4 chr22 37244900 37296135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCF4 chr2 23724711 24866401 LOH Normal High-resolution SNP genotyping 21211785 ATAD2B,C2orf44,FAM228A,FAM228B,FKBP1B,ITSN2,KLHL29,MFSD2B,NCOA1,PFN4,SF3B14,TP53I3,UBXN2A chr22 37247594 37247626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37256014 37256068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 237260443 237272991 Gain and loss Pancreatic cancer SNP array 17952125 IQCA1 chr2 23726075 23726175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr22 37272686 37311303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSF2RB,NCF4 chr2 23727603 24866401 LOH Normal High-resolution SNP genotyping 21211785 ATAD2B,C2orf44,FAM228A,FAM228B,FKBP1B,ITSN2,KLHL29,MFSD2B,NCOA1,PFN4,SF3B14,TP53I3,UBXN2A chr22 37278950 37323282 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSF2RB chr2 237300000 243199373 Loss Basal cell lymphoma Array CGH 16317097 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LOC728323,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 237300000 243199373 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LOC728323,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 237300000 243199373 Loss Diffuse large b-cell lymphoma Array CGH 16317097 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LOC728323,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 237300000 243199373 Loss Mantle cell lymphoma Array CGH 19029149 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,COPS8,CXCR7,CXXC11,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,IQCA1,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LOC728323,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr22 37308120 37382580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSF2RB,LOC100506241 chr22 37308120 37382580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSF2RB,LOC100506241 chr22 37311913 37370655 Gain and loss Pancreatic cancer SNP array 17952125 CSF2RB,LOC100506241 chr22 37346342 37371831 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100506241 chr2 237367024 237401504 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IQCA1 chr22 37377158 37394349 Gain and loss Pancreatic cancer SNP array 17952125 TEX33 chr22 37379070 37379170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37382604 37399795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEX33 chr22 37382604 37399795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX33 chr22 37392144 37392213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TEX33 chr22 37397852 37397910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEX33 chr22 37402461 37404989 Gain and loss Pancreatic cancer SNP array 17952125 TEX33 chr2 237404411 237404483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCA1 chr22 37406127 37420771 Gain and loss Pancreatic cancer SNP array 17952125 MPST,TST chr22 37407900 37410709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TST chr22 37407900 37410709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TST chr22 37411571 37426215 Gain or loss Breast cancer - 20668451 MPST,TST chr22 37411571 37426215 Gain or loss Cancer - 20668451 MPST,TST chr22 37411571 37426215 Gain or loss Lung cancer - 20668451 MPST,TST chr22 37411571 37426215 Gain or loss Ovarian cancer - 20668451 MPST,TST chr22 37411571 37426215 Gain or loss Pancreas cancer - 20668451 MPST,TST chr22 37411571 37426215 Gain or loss Prostate cancer - 20668451 MPST,TST chr22 37411630 37426405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MPST,TST chr22 37411630 37426405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MPST,TST chr22 37426469 37454080 Gain and loss Pancreatic cancer SNP array 17952125 KCTD17 chr22 37431753 37459536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCTD17 chr22 37431753 37459536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCTD17 chr22 37448694 37449456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCTD17 chr22 37452001 37507000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCTD17,TMPRSS6 chr22 37455235 37476447 Gain and loss Pancreatic cancer SNP array 17952125 KCTD17,TMPRSS6 chr22 37460676 37520094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS6 chr22 37460676 37520094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMPRSS6 chr2 23746388 23778719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLHL29 chr2 237486845 237486920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CXCR7 chr22 37499013 37514654 Gain and loss Pancreatic cancer SNP array 17952125 TMPRSS6 chr2 237502135 237502235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37503875 37503975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37504468 37520149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37504468 37520149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 237519104 238259751 LOH Normal High-resolution SNP genotyping 21211785 COL6A3,COPS8 chr2 237520623 237520695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 237520960 237521039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 237521588 237521667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 237527968 237528055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37538957 37564517 Gain and loss Pancreatic cancer SNP array 17952125 IL2RB chr22 37544001 37599000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C1QTNF6,IL2RB chr22 37544403 37569963 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL2RB chr22 37544403 37569963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL2RB chr22 37548184 37549058 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr22 37567973 37568062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37584764 37592758 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 237588586 237588687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37590180 37598204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37590180 37598204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 23759482 23759570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr2 237599464 237599554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37600000 41000000 Copy number Breast cancer TaqMan assay 18710881 ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,BAIAP2L2,C22orf23,CACNA1I,CARD10,CBX6,CBX7,CBY1,CDC42EP1,CSNK1E,CYTH4,DDX17,DMC1,DNAL4,EIF3L,ELFN2,ENTHD1,FAM227A,FAM83F,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,JOSD1,KCNJ4,KDELR3,LGALS1,LGALS2,LOC100130899,LOC100506472,LOC400927,MAFF,MFNG,MGAT3,MICALL1,MIR4534,MIR658,MIR659,MKL1,NOL12,NPTXR,PDGFB,PDXP,PICK1,PLA2G6,POLR2F,RAC2,RNU86,RPL3,RPS19BP1,SGSM3,SH3BP1,SLC16A8,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SSTR3,SUN2,SYNGR1,TAB1,TMEM184B,TNRC6B,TOMM22,TRIOBP chr22 37600000 51304566 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 A4GALT,ACO2,ACR,ADM2,ADSL,ALG12,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ARSA,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BRD1,C22orf23,C22orf26,C22orf32,C22orf34,C22orf46,CACNA1I,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHKB,CHKB-CPT1B,CN5H6.4,CPT1B,CRELD2,CSDC2,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM116B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HDAC10,IL17REL,JOSD1,KCNJ4,KDELR3,KIAA0930,KIAA1644,KLHDC7B,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,LOC90834,MAFF,MAPK11,MAPK12,MAPK8IP2,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIOX,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MOV10L1,MPPED1,NAGA,NCAPH2,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,ODF3B,PACSIN2,PANX2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PIM3,PKDREJ,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PPP6R2,PRR5,PRR5-ARHGAP8,RABL2B,RAC2,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SBF1,SCO2,SCUBE1,SELO,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYCE3,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TMEM184B,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRABD,TRIOBP,TRMU,TSPO,TTC38,TTLL1,TTLL12,TUBGCP6,TYMP,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZBED4,ZC3H7B chr22 37600000 51304566 Deletion Autism Affymetrix 500K SNP array set 17999366 A4GALT,ACO2,ACR,ADM2,ADSL,ALG12,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ARSA,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BRD1,C22orf23,C22orf26,C22orf32,C22orf34,C22orf46,CACNA1I,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHKB,CHKB-CPT1B,CN5H6.4,CPT1B,CRELD2,CSDC2,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM116B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HDAC10,IL17REL,JOSD1,KCNJ4,KDELR3,KIAA0930,KIAA1644,KLHDC7B,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,LOC90834,MAFF,MAPK11,MAPK12,MAPK8IP2,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIOX,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MOV10L1,MPPED1,NAGA,NCAPH2,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,ODF3B,PACSIN2,PANX2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PIM3,PKDREJ,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PPP6R2,PRR5,PRR5-ARHGAP8,RABL2B,RAC2,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SBF1,SCO2,SCUBE1,SELO,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYCE3,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TMEM184B,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRABD,TRIOBP,TRMU,TSPO,TTC38,TTLL1,TTLL12,TUBGCP6,TYMP,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZBED4,ZC3H7B chr22 37600000 51304566 Deletion Cancer Array CGH 17440070 A4GALT,ACO2,ACR,ADM2,ADSL,ALG12,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ARSA,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BRD1,C22orf23,C22orf26,C22orf32,C22orf34,C22orf46,CACNA1I,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHKB,CHKB-CPT1B,CN5H6.4,CPT1B,CRELD2,CSDC2,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM116B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HDAC10,IL17REL,JOSD1,KCNJ4,KDELR3,KIAA0930,KIAA1644,KLHDC7B,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,LOC90834,MAFF,MAPK11,MAPK12,MAPK8IP2,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIOX,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MOV10L1,MPPED1,NAGA,NCAPH2,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,ODF3B,PACSIN2,PANX2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PIM3,PKDREJ,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PPP6R2,PRR5,PRR5-ARHGAP8,RABL2B,RAC2,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SBF1,SCO2,SCUBE1,SELO,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYCE3,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TMEM184B,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRABD,TRIOBP,TRMU,TSPO,TTC38,TTLL1,TTLL12,TUBGCP6,TYMP,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZBED4,ZC3H7B chr22 37600000 51304566 Gain Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 A4GALT,ACO2,ACR,ADM2,ADSL,ALG12,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ARSA,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BRD1,C22orf23,C22orf26,C22orf32,C22orf34,C22orf46,CACNA1I,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHKB,CHKB-CPT1B,CN5H6.4,CPT1B,CRELD2,CSDC2,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM116B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HDAC10,IL17REL,JOSD1,KCNJ4,KDELR3,KIAA0930,KIAA1644,KLHDC7B,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,LOC90834,MAFF,MAPK11,MAPK12,MAPK8IP2,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIOX,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MOV10L1,MPPED1,NAGA,NCAPH2,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,ODF3B,PACSIN2,PANX2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PIM3,PKDREJ,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PPP6R2,PRR5,PRR5-ARHGAP8,RABL2B,RAC2,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SBF1,SCO2,SCUBE1,SELO,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYCE3,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TMEM184B,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRABD,TRIOBP,TRMU,TSPO,TTC38,TTLL1,TTLL12,TUBGCP6,TYMP,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZBED4,ZC3H7B chr22 37600000 51304566 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 A4GALT,ACO2,ACR,ADM2,ADSL,ALG12,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ARSA,ATF4,ATP5L2,ATXN10,BAIAP2L2,BIK,BRD1,C22orf23,C22orf26,C22orf32,C22orf34,C22orf46,CACNA1I,CARD10,CBX6,CBX7,CBY1,CCDC134,CDC42EP1,CDPF1,CELSR1,CENPM,CERK,CHADL,CHKB,CHKB-CPT1B,CN5H6.4,CPT1B,CRELD2,CSDC2,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,EIF3L,ELFN2,ENTHD1,EP300,FAM109B,FAM116B,FAM118A,FAM19A5,FAM227A,FAM83F,FBLN1,FLJ46257,GALR3,GCAT,GGA1,GRAMD4,GRAP2,GTPBP1,GTSE1,H1F0,HDAC10,IL17REL,JOSD1,KCNJ4,KDELR3,KIAA0930,KIAA1644,KLHDC7B,L3MBTL2,LDOC1L,LGALS1,LGALS2,LINC00207,LINC00229,LINC00634,LMF2,LOC100128946,LOC100130899,LOC100132273,LOC100144603,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC400927,LOC730668,LOC90834,MAFF,MAPK11,MAPK12,MAPK8IP2,MCAT,MCHR1,MEI1,MFNG,MGAT3,MICALL1,MIOX,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4534,MIR4535,MIR4762,MIR4763,MIR4766,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MLC1,MOV10L1,MPPED1,NAGA,NCAPH2,NDUFA6,NFAM1,NHP2L1,NOL12,NPTXR,NUP50,ODF3B,PACSIN2,PANX2,PARVB,PARVG,PDGFB,PDXP,PHF21B,PHF5A,PICK1,PIM3,PKDREJ,PLA2G6,PLXNB2,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,PPARA,PPP6R2,PRR5,PRR5-ARHGAP8,RABL2B,RAC2,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL23AP82,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SBF1,SCO2,SCUBE1,SELO,SEPT3,SERHL,SERHL2,SGSM3,SH3BP1,SHANK3,SHISA8,SLC16A8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SREBF2,SSTR3,ST13,SULT4A1,SUN2,SYCE3,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TMEM184B,TNFRSF13C,TNRC6B,TOB2,TOMM22,TRABD,TRIOBP,TRMU,TSPO,TTC38,TTLL1,TTLL12,TUBGCP6,TYMP,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZBED4,ZC3H7B chr22 37618672 37621332 Loss or gain Normal 244K array 17666407 RAC2 chr2 237621981 237629549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 237621981 237629549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37624051 37628630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAC2 chr22 37625201 37626850 Loss Normal Birdsuite, version 1.5.2 22087296 RAC2 chr22 37629648 37629748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAC2 chr22 37631002 37631068 Loss Normal 244K array 17666407 RAC2 chr2 23763501 23766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL29 chr22 37636555 37645775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAC2 chr2 237637441 237637526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 237658000 237672000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 237658823 237672226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 237658823 237672226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 23766001 23781000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KLHL29 chr22 37663447 37743275 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CYTH4 chr22 37666900 37667000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 23767141 23767234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr22 37672585 37716034 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYTH4 chr2 237673510 237673560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37674807 37721084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYTH4 chr22 37678123 37683688 Gain and loss Pancreatic cancer SNP array 17952125 CYTH4 chr22 37678702 37690573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYTH4 chr22 37678702 37690573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH4 chr22 37678846 37681412 Gain Normal Birdsuite, version 1.5.2 22087296 CYTH4 chr22 37679001 37694000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CYTH4 chr22 37680199 37716192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYTH4 chr22 37681412 37693564 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CYTH4 chr22 37683551 37716432 Loss or gain Normal 244K array 17666407 CYTH4 chr22 37685296 37715585 Copy number Incontinentia Pigmenti Agilent SurePrint G18 one Million microarrays 22033527 CYTH4 chr22 37686073 37718472 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 CYTH4 chr22 37687281 37717167 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CYTH4 chr22 37687281 37717167 Total allelic loss Normal High-resolution SNP genotyping 21211785 CYTH4 chr22 37687281 37718800 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CYTH4 chr22 37687281 37718800 Total allelic loss Normal High-resolution SNP genotyping 21211785 CYTH4 chr22 37689058 37715431 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CYTH4 chr22 37689058 37715431 Loss Autism 1M Ailent CGH whole-genome array 21865298 CYTH4 chr22 37689087 37715408 Loss Oral cancer 105K CGH oligonucleotide array 21386901 CYTH4 chr22 37693553 37705241 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYTH4 chr22 37693553 37719685 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CYTH4 chr22 37693564 37693565 Gain Normal Birdsuite, version 1.5.2 22087296 CYTH4 chr22 37693565 37701848 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CYTH4 chr22 37693776 37707428 Deletion Medulloblastoma Illumina SNP arrays 21163964 CYTH4 chr22 37694001 37901500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CARD10,CYTH4,ELFN2,MFNG chr22 37696964 37715431 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 CYTH4 chr22 37701848 37705253 Gain or loss Normal Birdsuite, version 1.5.2 22087296 CYTH4 chr22 37702905 37713283 Gain and loss Pancreatic cancer SNP array 17952125 CYTH4 chr22 37705253 37719697 Loss Normal Birdsuite, version 1.5.2 22087296 CYTH4 chr2 237705847 237705945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 237705847 237705948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 37706459 37706559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYTH4 chr22 37708298 37718755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYTH4 chr22 37708298 37718755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYTH4 chr22 37718669 41848706 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 ADSL,ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,BAIAP2L2,C22orf23,CACNA1I,CARD10,CBX6,CBX7,CBY1,CDC42EP1,CHADL,CSNK1E,DDX17,DMC1,DNAJB7,DNAL4,EIF3L,ELFN2,ENTHD1,EP300,FAM227A,FAM83F,GALR3,GCAT,GGA1,GRAP2,GTPBP1,H1F0,JOSD1,KCNJ4,KDELR3,L3MBTL2,LGALS1,LGALS2,LOC100130899,LOC100506472,LOC400927,MAFF,MCHR1,MFNG,MGAT3,MICALL1,MIR1281,MIR4534,MIR4766,MIR658,MIR659,MKL1,NOL12,NPTXR,PDGFB,PDXP,PICK1,PLA2G6,POLR2F,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SGSM3,SH3BP1,SLC16A8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,ST13,SUN2,SYNGR1,TAB1,TEF,TMEM184B,TNRC6B,TOB2,TOMM22,TRIOBP,XPNPEP3,ZC3H7B chr22 37719697 37725453 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 37724288 37724388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37725453 37760401 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 37731379 37731435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 237732067 237732149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37734762 37739323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 37740208 37744767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37740208 37744767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37741957 37752872 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 237746070 237746809 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 37747276 37759190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37761173 37808247 Gain and loss Pancreatic cancer SNP array 17952125 ELFN2 chr22 37766619 37781919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELFN2 chr22 37766619 37781919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELFN2 chr22 37768259 37768263 Deletion Medulloblastoma Illumina SNP arrays 21163964 ELFN2 chr22 37770239 37770339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELFN2 chr2 237776038 237777742 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr2 237776084 237789487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 37797013 37797108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELFN2 chr22 37803082 37813693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELFN2 chr22 37803082 37813693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELFN2 chr22 37814703 37814735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELFN2 chr22 37817744 37824570 Gain and loss Pancreatic cancer SNP array 17952125 ELFN2 chr22 37823190 37839268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELFN2 chr22 37823190 37839268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELFN2 chr22 37838812 37839012 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 237838813 237873285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 37845598 37845695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37846244 37846517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37851290 37873038 Gain and loss Pancreatic cancer SNP array 17952125 MFNG chr22 37856736 37878484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MFNG chr22 37856736 37878484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFNG chr22 37862402 37884099 Amplification or deletion Cancer Array CGH 17440070 MFNG chr22 37877802 37877902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MFNG chr22 37881476 37881896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFNG chr22 37894542 37894928 Gain and loss Pancreatic cancer SNP array 17952125 CARD10 chr2 237897000 237987000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 237897401 237987589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 237897401 237987589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 37901501 37903500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CARD10 chr22 37903501 37955500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CARD10 chr22 37904002 37904102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CARD10 chr22 37937599 37937918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 37944219 37965490 Gain and loss Pancreatic cancer SNP array 17952125 CDC42EP1 chr22 37949664 37970936 Gain or loss Breast cancer - 20668451 CDC42EP1,LGALS2 chr22 37949664 37970936 Gain or loss Cancer - 20668451 CDC42EP1,LGALS2 chr22 37949664 37970936 Gain or loss Lung cancer - 20668451 CDC42EP1,LGALS2 chr22 37949664 37970936 Gain or loss Ovarian cancer - 20668451 CDC42EP1,LGALS2 chr22 37949664 37970936 Gain or loss Pancreas cancer - 20668451 CDC42EP1,LGALS2 chr22 37949664 37970936 Gain or loss Prostate cancer - 20668451 CDC42EP1,LGALS2 chr22 37949665 37970936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP1,LGALS2 chr22 37949665 37970936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP1,LGALS2 chr22 37955501 38368000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD54,C22orf23,CDC42EP1,EIF3L,GALR3,GCAT,GGA1,H1F0,LGALS1,LGALS2,MICALL1,MIR658,MIR659,NOL12,PDXP,POLR2F,SH3BP1,TRIOBP chr2 237971801 238199500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COPS8 chr2 237972990 237973052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 37974680 37974788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGALS2 chr2 237988666 237988766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 237994802 237998658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPS8 chr22 38000000 40000000 Loss Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 ANKRD54,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,BAIAP2L2,C22orf23,CACNA1I,CBX6,CBX7,CBY1,CSNK1E,DDX17,DMC1,DNAL4,EIF3L,FAM227A,GALR3,GCAT,GGA1,GTPBP1,H1F0,JOSD1,KCNJ4,KDELR3,LGALS1,LOC100506472,LOC400927,MAFF,MGAT3,MICALL1,MIR4534,MIR658,MIR659,NOL12,NPTXR,PDGFB,PDXP,PICK1,PLA2G6,POLR2F,RNU86,RPL3,RPS19BP1,SH3BP1,SLC16A8,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SUN2,SYNGR1,TAB1,TMEM184B,TOMM22,TRIOBP chr2 238001541 238066523 Indels Normal Affymetrix and Illumina arrays 20811451 COPS8 chr2 238002302 238008204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COPS8 chr2 238014661 238104820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 238016762 238016862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 238026031 238057667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 238027448 238027528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 38033390 38040896 Gain and loss Pancreatic cancer SNP array 17952125 SH3BP1 chr22 38034324 38034416 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 38035718 38035812 Gain and loss Pancreatic cancer SNP array 17952125 SH3BP1 chr22 38036814 38102827 Gain small cell lung cancer Real-time Quantitative PCR 17426248 LGALS1,NOL12,PDXP,SH3BP1,TRIOBP chr22 38038833 38045616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH3BP1 chr22 38038833 38045616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3BP1 chr22 38039555 38039618 Gain and loss Pancreatic cancer SNP array 17952125 SH3BP1 chr22 38039557 38039618 Gain and loss Pancreatic cancer SNP array 17952125 SH3BP1 chr22 38039770 38039862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3BP1 chr22 38041164 38041258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3BP1 chr2 238045001 238048500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 38045001 38045064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3BP1 chr2 238048501 238116500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 238059792 238128697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238059792 238128697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238060000 238128000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr22 38061904 38061974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDXP chr22 38070454 38106080 Gain and loss Pancreatic cancer SNP array 17952125 LGALS1,NOL12,TRIOBP chr22 38075899 38111539 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOL12,TRIOBP chr22 38075899 38163078 Gain or loss Breast cancer - 20668451 NOL12,TRIOBP chr22 38075899 38163078 Gain or loss Cancer - 20668451 NOL12,TRIOBP chr22 38075899 38163078 Gain or loss Lung cancer - 20668451 NOL12,TRIOBP chr22 38075899 38163078 Gain or loss Ovarian cancer - 20668451 NOL12,TRIOBP chr22 38075899 38163078 Gain or loss Pancreas cancer - 20668451 NOL12,TRIOBP chr22 38075899 38163078 Gain or loss Prostate cancer - 20668451 NOL12,TRIOBP chr22 38075900 38111537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOL12,TRIOBP chr22 38075900 38111537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOL12,TRIOBP chr2 238093701 238097500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 238096762 238096830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238096832 238096890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238096893 238096959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238104652 242757057 Duplication Acute myeloid leukemia - 21251322 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,COL6A3,D2HGDH,DTYMK,DUSP28,ESPNL,FARP2,FLJ43879,GAL3ST2,GPC1,GPR35,HDAC4,HDLBP,HES6,ILKAP,ING5,KIF1A,KLHL30,LOC150935,LOC151171,LOC151174,LOC200772,LOC643387,LRRFIP1,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MLPH,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PER2,PP14571,PPP1R7,PRLH,PRR21,RAB17,RAMP1,RBM44,RNPEPL1,SCLY,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr2 238116501 238118500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 23811668 37770867 Loss Wilms tumour 250K Genotyping Arrays 21544195 ABHD1,ADCY3,AGBL5,ALK,ASXL2,ATAD2B,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf44,C2orf53,C2orf56,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CRIM1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FAM98A,FEZ2,FKBP1B,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,HEATR5B,IFT172,ITSN2,KCNK3,KHK,KIF3C,KLHL29,KRTCAP3,LBH,LCLAT1,LINC00486,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LTBP1,MAPRE3,MEMO1,MFSD2B,MIR1301,MIR4263,MIR4765,MIR558,MPV17,MRPL33,MYADML,NCOA1,NLRC4,NRBP1,OST4,OTOF,PFN4,PLB1,POMC,PPM1G,PPP1CB,PREB,PRKD3,PTRHD1,QPCT,RAB10,RASGRP3,RBKS,SF3B14,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPAST,SPDYA,SRD5A2,STRN,SULT6B1,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,TRMT61B,TTC27,UBXN2A,UCN,VIT,WDR43,XDH,YIPF4,YPEL5,ZNF512,ZNF513 chr2 238118501 238171500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 38120246 38157632 Gain and loss Pancreatic cancer SNP array 17952125 TRIOBP chr2 238123090 238156170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 38125692 38163078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIOBP chr22 38125692 38163078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIOBP chr2 238136547 238136614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238136547 238136652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238137470 238137570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 238139000 238140000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 238139956 238140557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238139956 238140557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 238147000 238164000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 238147704 238353276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL6A3 chr2 238147704 238353276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A3 chr2 238155115 238155205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 38155603 38189075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRIOBP chr2 238166383 238166559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 38169201 38173800 Deletion Glioma mate-paired sequence 20126413 TRIOBP chr2 238171478 238171594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 38177825 38209939 Gain and loss Pancreatic cancer SNP array 17952125 GCAT,H1F0 chr2 238177894 238244636 Gain and loss Pancreatic cancer SNP array 17952125 COL6A3 chr22 38183271 38218143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GCAT,H1F0 chr22 38183271 38218143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GCAT,H1F0 chr22 38194590 38195142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 238200000 238355000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 COL6A3 chr2 238200958 238353697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL6A3 chr2 238200958 238353697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A3 chr2 238213735 238213962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 238214023 238214091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 238214033 238214133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 238214093 238214151 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 238214154 238214220 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 238214950 238326450 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 COL6A3 chr2 238219279 238223375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 238219755 238219850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 38222784 38238633 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD54 chr22 38224572 38255088 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD54,EIF3L,MIR658,MIR659 chr22 38226051 38244079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD54,MIR658,MIR659 chr22 38226051 38244079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD54,MIR658,MIR659 chr22 38238143 38253916 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD54,EIF3L,MIR658,MIR659 chr22 38241069 38243191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 38245646 38248637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3L chr22 38245646 38248637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3L chr22 38249602 38253360 Gain and loss Pancreatic cancer SNP array 17952125 EIF3L chr2 23825038 24003488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B,KLHL29 chr2 238253808 238253875 Gain and loss Pancreatic cancer SNP array 17952125 COL6A3 chr22 38253916 41209673 LOH Normal High-resolution SNP genotyping 21211785 ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,BAIAP2L2,C22orf23,CACNA1I,CBX6,CBX7,CBY1,CSNK1E,DDX17,DMC1,DNAL4,EIF3L,ENTHD1,FAM227A,FAM83F,GRAP2,GTPBP1,JOSD1,KCNJ4,KDELR3,LOC100130899,LOC100506472,LOC400927,MAFF,MCHR1,MGAT3,MICALL1,MIR4534,MKL1,NPTXR,PDGFB,PICK1,PLA2G6,POLR2F,RNU86,RPL3,RPS19BP1,SGSM3,SLC16A8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SOX10,SUN2,SYNGR1,TAB1,TMEM184B,TNRC6B,TOMM22 chr22 38255048 38258806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF3L chr22 38255048 38258806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF3L chr2 238257217 238257818 Gain and loss Pancreatic cancer SNP array 17952125 COL6A3 chr2 238264531 238309340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COL6A3 chr2 238264965 238281738 Gain and loss Pancreatic cancer SNP array 17952125 COL6A3 chr22 38289650 38289750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 38291258 38410235 Gain and loss Pancreatic cancer SNP array 17952125 C22orf23,MICALL1,MIR4534,POLR2F,SOX10 chr22 38296704 38415688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C22orf23,MICALL1,MIR4534,POLR2F,SOX10 chr22 38296704 38415688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C22orf23,MICALL1,MIR4534,POLR2F,SOX10 chr22 38326195 38326267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MICALL1 chr2 238330286 238330460 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr2 238341847 238350566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 38352552 38352727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR2F chr22 38368001 38415500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4534,SOX10 chr2 238372000 238416000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 MLPH chr2 238372127 238408253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLPH chr2 238372127 238408253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLPH chr2 238382788 238470957 Gain and loss Pancreatic cancer SNP array 17952125 MLPH chr22 38384374 38403731 Deletion Attention deficit hyperactivity disorder - 22138692 MIR4534 chr2 238406627 238406717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLPH chr2 238411040 238411402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MLPH chr22 38415501 38458500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PICK1 chr2 238432000 238485000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 MLPH,PRLH,RAB17 chr2 238432275 238485492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MLPH,PRLH,RAB17 chr2 238432275 238485492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MLPH,PRLH,RAB17 chr2 238436001 238488000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MLPH,PRLH,RAB17 chr2 238438599 238438678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLPH chr22 38441726 38688301 Copy number Lung cancer paired-end sequencing 18438408 BAIAP2L2,CSNK1E,MAFF,PICK1,PLA2G6,SLC16A8,TMEM184B chr22 38456001 39721000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,BAIAP2L2,CBX6,CBX7,CBY1,CSNK1E,DDX17,DMC1,DNAL4,FAM227A,GTPBP1,JOSD1,KCNJ4,KDELR3,LOC400927,MAFF,NPTXR,PDGFB,PICK1,PLA2G6,RNU86,RPL3,SLC16A8,SNORD43,SNORD83A,SNORD83B,SUN2,TMEM184B,TOMM22 chr22 38463218 38463301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PICK1 chr22 38463550 38614294 Gain and loss Pancreatic cancer SNP array 17952125 BAIAP2L2,MAFF,PICK1,PLA2G6,SLC16A8 chr22 38468994 38619740 Deletion Intellectual disability 100k SNP Array 21811512 BAIAP2L2,MAFF,PICK1,PLA2G6,SLC16A8,TMEM184B chr22 38468996 38619740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAIAP2L2,MAFF,PICK1,PLA2G6,SLC16A8,TMEM184B chr22 38468996 38619740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAIAP2L2,MAFF,PICK1,PLA2G6,SLC16A8,TMEM184B chr2 238488001 238665000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRFIP1,RAB17 chr2 238489454 238533447 Gain and loss Pancreatic cancer SNP array 17952125 RAB17 chr2 238495735 238495835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB17 chr22 38519150 38519218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLA2G6 chr22 38525505 38525605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLA2G6 chr2 238535260 238535339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 238540000 238615000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LRRFIP1 chr2 238540395 238615696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP1 chr2 238540395 238615696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP1 chr2 238550287 238602746 Gain and loss Pancreatic cancer SNP array 17952125 LRRFIP1 chr2 238560547 238560626 Gain and loss Pancreatic cancer SNP array 17952125 LRRFIP1 chr22 38594668 38678564 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 MAFF,TMEM184B chr22 38594805 38595006 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 38595795 38596619 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 38600251 38600452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAFF chr22 38601239 38602058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAFF chr2 238611153 238611213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRFIP1 chr2 238616263 238616363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRFIP1 chr22 38619076 38619176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM184B chr22 38627031 38710303 Deletion Intellectual disability 100k SNP Array 21811512 CSNK1E,TMEM184B chr22 38627080 38698204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSNK1E,TMEM184B chr22 38627080 38698204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSNK1E,TMEM184B chr2 238627366 238627459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRFIP1 chr2 238634000 238672000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LRRFIP1 chr2 238634371 238672792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP1 chr2 238634371 238672792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP1 chr22 38650704 38659074 Loss Normal Birdsuite, version 1.5.2 22087296 TMEM184B chr2 238657700 238732665 Gain and loss Pancreatic cancer SNP array 17952125 LRRFIP1,RBM44 chr2 238665001 238670000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRFIP1 chr22 38667353 38691884 Gain and loss Pancreatic cancer SNP array 17952125 CSNK1E,TMEM184B chr2 238670001 238682500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRFIP1 chr2 238673000 238706000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LRRFIP1 chr2 238673690 238706667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP1 chr2 238673690 238706667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP1 chr2 238682501 238693000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LRRFIP1 chr2 238693001 238742000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBM44 chr22 38694001 38763500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CSNK1E,LOC400927 chr22 38703176 44418274 Copy number Lung cancer paired-end sequencing 18438408 A4GALT,ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ATF4,ATP5L2,BIK,C22orf32,C22orf46,CACNA1I,CBX6,CBX7,CBY1,CCDC134,CENPM,CHADL,CSDC2,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,DDX17,DESI1,DMC1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,ENTHD1,EP300,FAM109B,FAM227A,FAM83F,GRAP2,GTPBP1,JOSD1,KCNJ4,KDELR3,L3MBTL2,LINC00634,LOC100130899,LOC100132273,LOC100506472,LOC388906,LOC400927,MCAT,MCHR1,MEI1,MGAT3,MIR1281,MIR33A,MIR4766,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NPTXR,PACSIN2,PARVB,PDGFB,PHF5A,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,RANGAP1,RBX1,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TOMM22,TSPO,TTLL1,TTLL12,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr2 238712000 238726000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 RBM44 chr2 238712102 238726327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM44 chr2 238712102 238726327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM44 chr22 38715453 38750543 Gain and loss Pancreatic cancer SNP array 17952125 LOC400927 chr22 38720899 38755989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC400927 chr22 38720899 38755989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC400927 chr2 238724223 238740551 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 RBM44 chr2 238727940 238728015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM44 chr2 238732362 238742280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM44 chr2 238737553 238737653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBM44 chr2 238743000 238777000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 RAMP1,RBM44 chr2 238743783 238777075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAMP1,RBM44 chr2 238743783 238777075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAMP1,RBM44 chr2 238751692 238788996 Gain and loss Pancreatic cancer SNP array 17952125 RAMP1 chr22 38770767 39061757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBY1,DDX17,DMC1,FAM227A,KCNJ4,KDELR3,LOC400927 chr22 38770767 39061757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBY1,DDX17,DMC1,FAM227A,KCNJ4,KDELR3,LOC400927 chr2 238786873 238786948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAMP1 chr22 38790464 39138992 Deletion Autism Array CGH 22102821 CBY1,DDX17,DMC1,FAM227A,GTPBP1,JOSD1,KCNJ4,KDELR3,LOC400927,SUN2,TOMM22 chr2 238791026 238823927 Gain and loss Pancreatic cancer SNP array 17952125 RAMP1 chr2 238794001 238896000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAMP1,UBE2F,UBE2F-SCLY chr2 238798493 238804993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAMP1 chr2 238798493 238804993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAMP1 chr2 238798877 239766877 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ASB1,ESPNL,HES6,ILKAP,KLHL30,LOC151171,LOC151174,LOC643387,PER2,RAMP1,SCLY,TRAF3IP1,TWIST2,UBE2F,UBE2F-SCLY chr22 38801708 38882180 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DDX17,KCNJ4,KDELR3 chr2 238811000 238813000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 RAMP1 chr2 238811649 238813421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAMP1 chr2 238811649 238813421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAMP1 chr2 238813674 238842181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAMP1 chr2 238817000 238861000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 RAMP1 chr2 238817418 238861946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAMP1 chr2 238817418 238861946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAMP1 chr22 38819593 38819653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 238831417 238843547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 23883192 23954376 Gain and loss Pancreatic cancer SNP array 17952125 KLHL29 chr22 38832275 38833016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNJ4 chr2 238846275 238846523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 23884820 23899075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLHL29 chr2 238849354 238849539 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 238852235 238859513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 238855654 238855754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 238857935 239130995 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ESPNL,ILKAP,KLHL30,SCLY,UBE2F,UBE2F-SCLY chr2 238861044 238894336 Gain and loss Pancreatic cancer SNP array 17952125 UBE2F,UBE2F-SCLY chr22 38876616 39043853 Gain and loss Pancreatic cancer SNP array 17952125 DDX17,DMC1,FAM227A,KDELR3 chr2 238893000 238974000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SCLY,UBE2F,UBE2F-SCLY chr2 238893821 238974202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCLY,UBE2F,UBE2F-SCLY chr2 238893821 238974202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCLY,UBE2F,UBE2F-SCLY chr2 238896001 238996000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCLY,UBE2F,UBE2F-SCLY chr22 38897254 38941987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DDX17,DMC1 chr2 238915774 238922254 Gain and loss Pancreatic cancer SNP array 17952125 UBE2F,UBE2F-SCLY chr2 238922522 238924279 Gain and loss Pancreatic cancer SNP array 17952125 UBE2F,UBE2F-SCLY chr2 238928910 238930670 Gain and loss Pancreatic cancer SNP array 17952125 UBE2F,UBE2F-SCLY chr2 238934686 238979092 Gain and loss Pancreatic cancer SNP array 17952125 SCLY,UBE2F,UBE2F-SCLY chr2 23895682 23906018 Loss Normal 244K array 17666407 KLHL29 chr2 238986022 238986125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCLY,UBE2F-SCLY chr2 238993800 239026135 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ESPNL,SCLY,UBE2F-SCLY chr2 238996001 239001000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SCLY,UBE2F-SCLY chr2 23899794 23899879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr2 239000000 239025000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ESPNL,SCLY,UBE2F-SCLY chr2 23900000 27700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD1,ADCY3,AGBL5,ASXL2,ATAD2B,ATRAID,C2orf18,C2orf44,C2orf53,C2orf70,CAD,CCDC164,CENPA,CENPO,CGREF1,CIB4,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EIF2B4,EMILIN1,EPT1,FAM228A,FAM228B,FAM59B,FKBP1B,FTH1P3,GPR113,GTF3C2,HADHA,HADHB,IFT172,ITSN2,KCNK3,KHK,KIF3C,KLHL29,KRTCAP3,LOC100505624,MAPRE3,MFSD2B,MIR1301,MPV17,NCOA1,NRBP1,OST4,OTOF,PFN4,POMC,PPM1G,PREB,PTRHD1,RAB10,SF3B14,SLC30A3,SLC5A6,SNX17,TCF23,TMEM214,TP53I3,TRIM54,UBXN2A,UCN,ZNF513 chr2 23900000 27700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD1,ADCY3,AGBL5,ASXL2,ATAD2B,ATRAID,C2orf18,C2orf44,C2orf53,C2orf70,CAD,CCDC164,CENPA,CENPO,CGREF1,CIB4,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EIF2B4,EMILIN1,EPT1,FAM228A,FAM228B,FAM59B,FKBP1B,FTH1P3,GPR113,GTF3C2,HADHA,HADHB,IFT172,ITSN2,KCNK3,KHK,KIF3C,KLHL29,KRTCAP3,LOC100505624,MAPRE3,MFSD2B,MIR1301,MPV17,NCOA1,NRBP1,OST4,OTOF,PFN4,POMC,PPM1G,PREB,PTRHD1,RAB10,SF3B14,SLC30A3,SLC5A6,SNX17,TCF23,TMEM214,TP53I3,TRIM54,UBXN2A,UCN,ZNF513 chr2 23900000 31900000 Loss Myxofibrosarcoma Array CGH 16751306 ABHD1,ADCY3,AGBL5,ALK,ASXL2,ATAD2B,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf44,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FKBP1B,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,ITSN2,KCNK3,KHK,KIF3C,KLHL29,KRTCAP3,LBH,LCLAT1,LOC100505624,LOC100505716,MAPRE3,MFSD2B,MIR1301,MIR4263,MPV17,MRPL33,NCOA1,NRBP1,OST4,OTOF,PFN4,PLB1,POMC,PPM1G,PPP1CB,PREB,PTRHD1,RAB10,RBKS,SF3B14,SLC30A3,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPDYA,SRD5A2,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,TRMT61B,UBXN2A,UCN,WDR43,XDH,YPEL5,ZNF512,ZNF513 chr2 23900000 47600000 Copy number Non-small cell lung cancer Reverse Transcription-PCR 18927303 ABCG5,ABCG8,ABHD1,ADCY3,AGBL5,ALK,ARHGEF33,ASXL2,ATAD2B,ATL2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf44,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EPAS1,EPCAM,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FAM82A1,FAM98A,FEZ2,FKBP1B,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GEMIN6,GPN1,GPR113,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,IFT172,ITSN2,KCNG3,KCNK3,KHK,KIF3C,KLHL29,KRTCAP3,LBH,LCLAT1,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MAPRE3,MCFD2,MEMO1,MFSD2B,MIR1301,MIR4263,MIR4765,MIR548AD,MIR558,MORN2,MPV17,MRPL33,MTA3,MYADML,NCOA1,NLRC4,NRBP1,OST4,OTOF,OXER1,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,POMC,PPM1B,PPM1G,PPP1CB,PREB,PREPL,PRKCE,PRKD3,PTRHD1,QPCT,RAB10,RASGRP3,RBKS,RHOQ,SF3B14,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SNORD53,SNORD92,SNX17,SOCS5,SOS1,SPAST,SPDYA,SRBD1,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TCF23,THADA,THUMPD2,TMEM178A,TMEM214,TMEM247,TP53I3,TRIM54,TRMT61B,TTC27,TTC7A,UBXN2A,UCN,UNQ6975,VIT,WDR43,XDH,YIPF4,YPEL5,ZFP36L2,ZNF512,ZNF513 chr2 239000365 239025630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESPNL,SCLY,UBE2F-SCLY chr2 239000365 239025630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESPNL,SCLY,UBE2F-SCLY chr2 239001001 239070000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ESPNL,KLHL30,SCLY,UBE2F-SCLY chr2 23901530 23901630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL29 chr2 239016414 239016485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESPNL chr22 39018426 39018526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM227A chr2 239026423 239026654 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ESPNL chr22 39048803 39223310 Gain Autism Exome sequencing and CGH 22495309 CBY1,DNAL4,FAM227A,GTPBP1,JOSD1,NPTXR,SUN2,TOMM22 chr22 39053208 41038748 LOH Normal High-resolution SNP genotyping 21211785 ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,CACNA1I,CBX6,CBX7,CBY1,DNAL4,ENTHD1,FAM83F,GRAP2,GTPBP1,JOSD1,LOC100130899,LOC100506472,MGAT3,MKL1,NPTXR,PDGFB,RNU86,RPL3,RPS19BP1,SGSM3,SMCR7L,SNORD43,SNORD83A,SNORD83B,SUN2,SYNGR1,TAB1,TNRC6B,TOMM22 chr22 39067007 39087250 Gain and loss Pancreatic cancer SNP array 17952125 CBY1,JOSD1,TOMM22 chr2 239070001 239148500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HES6,ILKAP,LOC151174,LOC643387 chr22 39072001 39073000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 39072450 39092521 Copy number Autism exome sequencing 22495311 JOSD1,TOMM22 chr22 39072479 39092697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 JOSD1,TOMM22 chr22 39072479 39092697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JOSD1,TOMM22 chr2 239074111 239074436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 39078993 39079073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOMM22 chr22 39091140 39130607 Gain and loss Pancreatic cancer SNP array 17952125 GTPBP1,JOSD1 chr22 39096541 39136239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTPBP1,SUN2 chr22 39096541 39136239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTPBP1,SUN2 chr2 239103284 239103386 Gain and loss Pancreatic cancer SNP array 17952125 ILKAP chr2 239103301 239103386 Gain and loss Pancreatic cancer SNP array 17952125 ILKAP chr2 239108784 239110152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ILKAP chr2 239117626 239137371 Gain and loss Pancreatic cancer SNP array 17952125 LOC151174 chr22 39122301 39126600 Deletion Glioma mate-paired sequence 20126413 GTPBP1 chr22 39123895 39124858 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GTPBP1 chr22 39124170 39125185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GTPBP1 chr22 39130001 39132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SUN2 chr22 39130793 39357195 Gain and loss Pancreatic cancer SNP array 17952125 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39132501 39136000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SUN2 chr22 39136001 39151500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SUN2 chr22 39136237 39362636 Gain or loss Breast cancer - 20668451 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39136237 39362636 Gain or loss Cancer - 20668451 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39136237 39362636 Gain or loss Lung cancer - 20668451 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39136237 39362636 Gain or loss Ovarian cancer - 20668451 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39136237 39362636 Gain or loss Pancreas cancer - 20668451 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39136237 39362636 Gain or loss Prostate cancer - 20668451 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39136238 39362651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39136238 39362651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOBEC3A,APOBEC3A_B,CBX6,DNAL4,NPTXR,SUN2 chr22 39141015 49691432 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1174K arrays 21546498 A4GALT,ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CACNA1I,CBX6,CBX7,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,DNAL4,EFCAB6,EFCAB6-AS1,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM83F,FBLN1,FLJ46257,GRAMD4,GRAP2,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MGAT3,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4535,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NPTXR,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SULT4A1,SUN2,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr2 239148501 239419500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASB1,HES6,LOC151171,PER2,TRAF3IP1 chr2 239151118 239151218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239163501 239168400 Deletion Glioma mate-paired sequence 20126413 PER2 chr2 239164809 239166587 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PER2 chr2 239165135 239166471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PER2 chr2 239170109 239170209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PER2 chr22 39197167 39197262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239220982 239222252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 39224004 39224104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPTXR chr22 39228781 39228881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPTXR chr22 39253839 39277704 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CBX6 chr22 39256737 39256837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239258760 239258810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAF3IP1 chr2 239259644 239259734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAF3IP1 chr22 39278468 39278558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 39289792 39290399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39291841 39988600 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1173K arrays 21546498 APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,CACNA1I,CBX7,LOC100506472,MGAT3,PDGFB,RNU86,RPL3,RPS19BP1,SMCR7L,SNORD43,SNORD83A,SNORD83B,SYNGR1,TAB1 chr2 239293533 242759899 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ASB1,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,D2HGDH,DTYMK,DUSP28,FARP2,FLJ43879,GAL3ST2,GPC1,GPR35,HDAC4,HDLBP,ING5,KIF1A,LOC150935,LOC151171,LOC200772,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PP14571,PPP1R7,PRR21,RNPEPL1,SEPT2,SNED1,STK25,THAP4,TRAF3IP1,TWIST2 chr22 39295238 39295914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39296203 46069760 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 A4GALT,ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BIK,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CENPM,CHADL,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,ENTHD1,EP300,FAM109B,FAM118A,FAM83F,FBLN1,GRAP2,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100130899,LOC100132273,LOC100506472,LOC100506714,LOC388906,MCAT,MCHR1,MEI1,MGAT3,MIR1249,MIR1281,MIR33A,MIR4766,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PHF21B,PHF5A,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SULT4A1,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TSPO,TTLL1,TTLL12,UPK3A,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 42600000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CENPM,CHADL,CSDC2,CYP2D6,CYP2D7P1,DESI1,DNAJB7,ENTHD1,EP300,FAM109B,FAM83F,GRAP2,L3MBTL2,LINC00634,LOC100130899,LOC100132273,LOC100506472,MCHR1,MEI1,MGAT3,MIR1281,MIR33A,MIR4766,MKL1,NAGA,NDUFA6,NHP2L1,PDGFB,PHF5A,PMM1,POLR3H,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SEPT3,SGSM3,SHISA8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 42600000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CENPM,CHADL,CSDC2,CYP2D6,CYP2D7P1,DESI1,DNAJB7,ENTHD1,EP300,FAM109B,FAM83F,GRAP2,L3MBTL2,LINC00634,LOC100130899,LOC100132273,LOC100506472,MCHR1,MEI1,MGAT3,MIR1281,MIR33A,MIR4766,MKL1,NAGA,NDUFA6,NHP2L1,PDGFB,PHF5A,PMM1,POLR3H,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SEPT3,SGSM3,SHISA8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 42600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CENPM,CHADL,CSDC2,CYP2D6,CYP2D7P1,DESI1,DNAJB7,ENTHD1,EP300,FAM109B,FAM83F,GRAP2,L3MBTL2,LINC00634,LOC100130899,LOC100132273,LOC100506472,MCHR1,MEI1,MGAT3,MIR1281,MIR33A,MIR4766,MKL1,NAGA,NDUFA6,NHP2L1,PDGFB,PHF5A,PMM1,POLR3H,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SEPT3,SGSM3,SHISA8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 42600000 Copy number Normal - 21701786 ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CENPM,CHADL,CSDC2,CYP2D6,CYP2D7P1,DESI1,DNAJB7,ENTHD1,EP300,FAM109B,FAM83F,GRAP2,L3MBTL2,LINC00634,LOC100130899,LOC100132273,LOC100506472,MCHR1,MEI1,MGAT3,MIR1281,MIR33A,MIR4766,MKL1,NAGA,NDUFA6,NHP2L1,PDGFB,PHF5A,PMM1,POLR3H,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SEPT3,SGSM3,SHISA8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 42600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CENPM,CHADL,CSDC2,CYP2D6,CYP2D7P1,DESI1,DNAJB7,ENTHD1,EP300,FAM109B,FAM83F,GRAP2,L3MBTL2,LINC00634,LOC100130899,LOC100132273,LOC100506472,MCHR1,MEI1,MGAT3,MIR1281,MIR33A,MIR4766,MKL1,NAGA,NDUFA6,NHP2L1,PDGFB,PHF5A,PMM1,POLR3H,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SEPT3,SGSM3,SHISA8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 42600000 Loss Non-small cell lung cancer dChip 21829676 ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CENPM,CHADL,CSDC2,CYP2D6,CYP2D7P1,DESI1,DNAJB7,ENTHD1,EP300,FAM109B,FAM83F,GRAP2,L3MBTL2,LINC00634,LOC100130899,LOC100132273,LOC100506472,MCHR1,MEI1,MGAT3,MIR1281,MIR33A,MIR4766,MKL1,NAGA,NDUFA6,NHP2L1,PDGFB,PHF5A,PMM1,POLR3H,RANGAP1,RBX1,RNU86,RPL3,RPS19BP1,SEPT3,SGSM3,SHISA8,SLC25A17,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 47000000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 A4GALT,ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CDPF1,CELSR1,CENPM,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,ENTHD1,EP300,FAM109B,FAM118A,FAM83F,FBLN1,GRAP2,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100130899,LOC100132273,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MGAT3,MIR1249,MIR1281,MIR33A,MIR3619,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SULT4A1,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 47000000 Loss Breast cancer - 16397240 A4GALT,ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CDPF1,CELSR1,CENPM,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,ENTHD1,EP300,FAM109B,FAM118A,FAM83F,FBLN1,GRAP2,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100130899,LOC100132273,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MGAT3,MIR1249,MIR1281,MIR33A,MIR3619,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SULT4A1,SYNGR1,TAB1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 49691432 Loss Breast cancer Array CGH 16608533 A4GALT,ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM83F,FBLN1,FLJ46257,GRAMD4,GRAP2,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MGAT3,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4535,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SULT4A1,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 39300000 49691432 Loss Malignant fibrous histiocytomas aCGH 21085701 A4GALT,ACO2,ADSL,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ARFGAP3,ARHGAP8,ATF4,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CACNA1I,CBX7,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,ENTHD1,EP300,FAM109B,FAM118A,FAM19A5,FAM83F,FBLN1,FLJ46257,GRAMD4,GRAP2,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100130899,LOC100132273,LOC100271722,LOC100506472,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MGAT3,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4535,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PDGFB,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SMCR7L,SNORD43,SNORD83A,SNORD83B,SREBF2,ST13,SULT4A1,SYNGR1,TAB1,TBC1D22A,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr2 239310000 240830000 Loss Breast cancer aCGH 21509527 ASB1,FLJ43879,HDAC4,LOC150935,LOC151171,MGC16025,MIR2467,MIR4269,MIR4440,MIR4441,TWIST2 chr22 39312656 39313953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39324744 39325120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 239335625 239360891 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 ASB1 chr2 2393401 23987580 Copy number Autism exome sequencing 22495311 ADAM17,ADI1,ALLC,APOB,ASAP2,ATAD2B,ATP6V1C2,C2orf43,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,DDX1,E2F6,FAM49A,FAM84A,FLJ12334,FLJ33534,GDF7,GEN1,GREB1,GRHL1,HPCAL1,HS1BP3,IAH1,ID2,ITGB1BP1,KCNF1,KCNS3,KIDINS220,KLF11,KLHL29,LAPTM4A,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC400940,LOC645949,LOC727982,LPIN1,MATN3,MBOAT2,MIR3125,MIR4261,MIR4262,MIR4429,MIR4757,MSGN1,MYCN,MYCNOS,NBAS,NOL10,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,PDIA6,PQLC3,PUM2,RAD51AP2,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SMC6,SNORA80B,SOX11,TAF1B,TRAPPC12,TRIB2,TSSC1,TTC32,VSNL1,WDR35,YWHAQ chr22 39341783 39344249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 239356609 239356948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ASB1 chr22 39372056 40665008 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,CACNA1I,CBX7,ENTHD1,FAM83F,GRAP2,LOC100130899,LOC100506472,MGAT3,PDGFB,RNU86,RPL3,RPS19BP1,SMCR7L,SNORD43,SNORD83A,SNORD83B,SYNGR1,TAB1,TNRC6B chr2 239376265 239376377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39399439 39400402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39399737 39403318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39405045 39408764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39405045 39408764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39406430 40854572 LOH Normal High-resolution SNP genotyping 21211785 ADSL,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,ATF4,CACNA1I,CBX7,ENTHD1,FAM83F,GRAP2,LOC100130899,LOC100506472,MGAT3,MKL1,PDGFB,RNU86,RPL3,RPS19BP1,SGSM3,SMCR7L,SNORD43,SNORD83A,SNORD83B,SYNGR1,TAB1,TNRC6B chr2 239419501 239650500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC151171 chr2 239454211 239454340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC151171 chr2 2394558 2403870 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 39470060 39472580 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 23948642 23949388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39490141 39539892 Gain and loss Pancreatic cancer SNP array 17952125 APOBEC3H,CBX7 chr2 239493526 239493606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 239493526 239493652 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39495587 39545338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APOBEC3H,CBX7 chr22 39495587 39545338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APOBEC3H,CBX7 chr22 39514727 39515217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39530884 39530958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBX7 chr2 239537313 239537990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39544491 39544586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBX7 chr22 39545103 39577187 Gain and loss Pancreatic cancer SNP array 17952125 CBX7 chr22 39550549 39582633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39550549 39582633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 239555630 239555723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239559554 239559643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39577591 39653322 Gain and loss Pancreatic cancer SNP array 17952125 PDGFB chr22 39581569 39582498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 239582807 239583628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39583040 39653824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDGFB chr22 39583040 39653824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDGFB chr22 39585499 39588076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39585499 39588076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 239587822 239587854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239602436 239602481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239608916 239609001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239619630 242951149 Deletion Normal - 21701786 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,CXXC11,D2HGDH,DTYMK,DUSP28,FARP2,FLJ43879,GAL3ST2,GPC1,GPR35,HDAC4,HDLBP,ING5,KIF1A,LOC150935,LOC200772,MGC16025,MIR149,MIR2467,MIR4269,MIR4440,MIR4441,MIR4786,MTERFD2,MYEOV2,NDUFA10,NEU4,OR6B2,OR6B3,OTOS,PASK,PDCD1,PP14571,PPP1R7,PRR21,RNPEPL1,SEPT2,SNED1,STK25,THAP4,TWIST2 chr2 239622573 239622765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 39624170 39624502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDGFB chr2 239626173 239719300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 39630458 39634480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDGFB chr2 239634000 239987000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 FLJ43879,HDAC4,TWIST2 chr2 239634802 239987580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ43879,HDAC4,TWIST2 chr2 239634802 239987580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ43879,HDAC4,TWIST2 chr22 39635383 39635484 Gain and loss Pancreatic cancer SNP array 17952125 PDGFB chr22 39637625 39637885 Gain and loss Pancreatic cancer SNP array 17952125 PDGFB chr22 39638247 39638348 Gain and loss Pancreatic cancer SNP array 17952125 PDGFB chr22 39638247 39638350 Gain and loss Pancreatic cancer SNP array 17952125 PDGFB chr22 39640829 39640930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDGFB chr22 39643071 39643331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39643693 39643796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 239650501 239656500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 239656501 239681000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 239666527 239666824 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 39671885 39693182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39677331 39698614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39677331 39698614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39677453 39677501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239681001 239700000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 23968445 24061635 Gain and loss Pancreatic cancer SNP array 17952125 ATAD2B chr2 239695512 239695587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 23969932 32811368 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-368K arrays 21546498 ABHD1,ADCY3,AGBL5,ALK,ASXL2,ATAD2B,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf44,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FKBP1B,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,ITSN2,KCNK3,KHK,KIF3C,KRTCAP3,LBH,LCLAT1,LOC100505624,LOC100505716,MAPRE3,MEMO1,MFSD2B,MIR1301,MIR4263,MIR558,MPV17,MRPL33,NCOA1,NLRC4,NRBP1,OST4,OTOF,PFN4,PLB1,POMC,PPM1G,PPP1CB,PREB,PTRHD1,RAB10,RBKS,SF3B14,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPAST,SPDYA,SRD5A2,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,TRMT61B,UBXN2A,UCN,WDR43,XDH,YIPF4,YPEL5,ZNF512,ZNF513 chr2 239700001 239961500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ43879,TWIST2 chr2 239706545 239706615 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 239706646 240058897 Gain and loss Pancreatic cancer SNP array 17952125 FLJ43879,HDAC4,MIR4440,MIR4441,TWIST2 chr2 239709986 239994583 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FLJ43879,HDAC4,MIR4440,TWIST2 chr22 39721001 40049900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATF4,CACNA1I,LOC100506472,MGAT3,RPS19BP1,SMCR7L,SYNGR1,TAB1 chr22 39731684 39812692 Amplification or deletion Cancer Array CGH 17440070 SYNGR1,TAB1 chr2 239734357 239744993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 239748430 239748990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39750159 39753266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYNGR1 chr22 39766001 39766091 Gain and loss Pancreatic cancer SNP array 17952125 SYNGR1 chr2 23977067 23977523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr22 39771422 39771507 Gain and loss Pancreatic cancer SNP array 17952125 SYNGR1 chr22 39771447 39771537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNGR1 chr22 39771447 39771542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNGR1 chr22 39776868 39776953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNGR1 chr22 39779435 39779535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNGR1 chr22 39781802 39782096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 39784556 39785140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39786057 39786150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39786063 39786150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 39790002 39790583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39791504 39791596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39794668 39795743 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 239795903 239796036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 239796181 239806685 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 39800114 39801189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAB1 chr22 39813107 39900578 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818463 39818516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAB1 chr22 39818553 39906024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818553 39906024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Gain or loss Breast cancer - 20668451 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Gain or loss Cancer - 20668451 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Gain or loss Lung cancer - 20668451 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Gain or loss Ovarian cancer - 20668451 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Gain or loss Pancreas cancer - 20668451 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Gain or loss Prostate cancer - 20668451 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Translate Acute myeloid leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Translate Breast cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Translate Colorectal cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 39818559 39906027 Translate Pancreatic cancer Affymetrix Genome-wide Human SNP Array 6.0 20824076 LOC100506472,MGAT3,SMCR7L,TAB1 chr22 3981860 39906027 Copy number Autism exome sequencing 22495311 ADORA2A,ADRBK2,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARVCF,ASCC2,ASPHD2,ATP6V1E1,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf28,C22orf29,C22orf31,C22orf39,C22orf42,C22orf43,C22orf45,CABIN1,CABP7,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC157,CCT8L2,CDC42EP1,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CES5AP1,CHCHD10,CHEK2,CLDN5,CLTCL1,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSF2RB,CSNK1E,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAL4,DRG1,DUSP18,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,EWSR1,FAM211B,FAM227A,FBXO7,FBXW4P1,FLJ41941,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA1656,KIAA1671,KLHL22,KREMEN1,LARGE,LGALS1,LGALS2,LIF,LIMK2,LOC100128531,LOC100506195,LOC100506241,LOC100506472,LOC150185,LOC150197,LOC284865,LOC284889,LOC339666,LOC388849,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCM5,MED15,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3618,MIR3653,MIR3909,MIR3928,MIR4534,MIR4761,MIR4764,MIR548J,MIR648,MIR650,MIR658,MIR659,MMP11,MN1,MORC2,MORC2-AS1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NCF4,NEFH,NF2,NIPSNAP1,NOL12,NPTXR,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PATZ1,PDGFB,PDXP,PES1,PEX26,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PLA2G3,PLA2G6,POLR2F,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PVALB,RAB36,RAC2,RANBP1,RASD2,RASL10A,RBFOX2,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU86,RPL3,RTDR1,RTN4R,SCARF2,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT5,SEPT5-GP1BB,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SH3BP1,SLC16A8,SLC25A1,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SRRD,SSTR3,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBX1,TCN2,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TSSK2,TST,TTC28,TTC28-AS1,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UQCR10,USP18,VPREB1,VPREB3,XBP1,XKR3,YDJC,YPEL1,YWHAH,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 39842883 39876270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MGAT3 chr22 39870695 39888991 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MGAT3 chr22 39872291 39872340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGAT3 chr22 39892913 39898247 Deletion Rubinstein-Taybi syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 NOT_FOUND chr22 39902407 39916034 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SMCR7L chr22 39902407 39942396 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATF4,RPS19BP1,SMCR7L chr22 39903984 39903984 Copy number Prostate cancer Illumina GA II sequencer 21307934 SMCR7L chr2 23990599 23990698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATAD2B chr22 39915677 39916138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39916010 39959748 Gain Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 ATF4,RPS19BP1 chr22 39925816 39951774 Gain and loss Pancreatic cancer SNP array 17952125 RPS19BP1 chr22 39931259 39957220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39931259 39957220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 39949001 39976000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1I chr22 39950024 39961435 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 239953416 239953689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 39955485 39966881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1I chr22 39955485 39966881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1I chr2 239961501 239980500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4 chr22 39966116 40023463 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1I chr22 39971561 40028909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1I chr22 39971561 40028909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1I chr22 39976001 40061500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1I chr22 39977152 40021391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1I chr22 39980012 39980112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1I chr2 239980501 240048500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4,MIR4440,MIR4441 chr2 239988067 239988988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDAC4 chr2 239988067 239988988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDAC4 chr2 24000000 27900000 Copy number Proteinuric nephropathy Real-time PCR 18818194 ABHD1,ADCY3,AGBL5,ASXL2,ATAD2B,ATRAID,C2orf16,C2orf18,C2orf44,C2orf53,C2orf70,CAD,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EIF2B4,EMILIN1,EPT1,FAM228A,FAM228B,FAM59B,FKBP1B,FNDC4,FTH1P3,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,ITSN2,KCNK3,KHK,KIF3C,KRTCAP3,LOC100505624,MAPRE3,MFSD2B,MIR1301,MPV17,NCOA1,NRBP1,OST4,OTOF,PFN4,POMC,PPM1G,PREB,PTRHD1,RAB10,SF3B14,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,UBXN2A,UCN,ZNF512,ZNF513 chr2 24000000 32100000 Amplification Hepatocellular carcinoma Array CGH 16750200 ABHD1,ADCY3,AGBL5,ALK,ASXL2,ATAD2B,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf44,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FKBP1B,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,ITSN2,KCNK3,KHK,KIF3C,KRTCAP3,LBH,LCLAT1,LOC100505624,LOC100505716,MAPRE3,MEMO1,MFSD2B,MIR1301,MIR4263,MPV17,MRPL33,NCOA1,NRBP1,OST4,OTOF,PFN4,PLB1,POMC,PPM1G,PPP1CB,PREB,PTRHD1,RAB10,RBKS,SF3B14,SLC30A3,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPDYA,SRD5A2,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,TRMT61B,UBXN2A,UCN,WDR43,XDH,YPEL5,ZNF512,ZNF513 chr2 24000000 32100000 Gain Lung cancer array CGH 16740712 ABHD1,ADCY3,AGBL5,ALK,ASXL2,ATAD2B,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf44,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FKBP1B,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,ITSN2,KCNK3,KHK,KIF3C,KRTCAP3,LBH,LCLAT1,LOC100505624,LOC100505716,MAPRE3,MEMO1,MFSD2B,MIR1301,MIR4263,MPV17,MRPL33,NCOA1,NRBP1,OST4,OTOF,PFN4,PLB1,POMC,PPM1G,PPP1CB,PREB,PTRHD1,RAB10,RBKS,SF3B14,SLC30A3,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPDYA,SRD5A2,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,TRMT61B,UBXN2A,UCN,WDR43,XDH,YPEL5,ZNF512,ZNF513 chr2 24000000 36600000 Copy number Hereditary gingival fibromatosis Affymetrix Genome-Wide Human SNP 6.0 array 19633868 ABHD1,ADCY3,AGBL5,ALK,ASXL2,ATAD2B,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf44,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CRIM1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM59B,FAM98A,FKBP1B,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,ITSN2,KCNK3,KHK,KIF3C,KRTCAP3,LBH,LCLAT1,LINC00486,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LTBP1,MAPRE3,MEMO1,MFSD2B,MIR1301,MIR4263,MIR4765,MIR558,MPV17,MRPL33,MYADML,NCOA1,NLRC4,NRBP1,OST4,OTOF,PFN4,PLB1,POMC,PPM1G,PPP1CB,PREB,PTRHD1,RAB10,RASGRP3,RBKS,SF3B14,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPAST,SPDYA,SRD5A2,SUPT7L,TCF23,TMEM214,TP53I3,TRIM54,TRMT61B,TTC27,UBXN2A,UCN,WDR43,XDH,YIPF4,YPEL5,ZNF512,ZNF513 chr22 40000808 40052810 Loss Normal Birdsuite, version 1.5.2 22087296 CACNA1I chr22 40005749 40030192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1I chr22 40007444 40007544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1I chr22 40017405 40025069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1I chr22 40022067 40080651 Copy number Autism Illumina Humanhap300 Beadchips 19492091 CACNA1I chr22 40022067 40080651 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1I chr22 40027475 40086053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1I chr22 40027475 40086053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1I chr2 24003686 24077195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 24003686 24077195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr22 40044905 40044995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1I chr2 240045382 240045479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDAC4 chr2 240048501 240052000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4 chr22 40049901 40555900 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1I,ENTHD1,FAM83F,GRAP2,LOC100130899,TNRC6B chr2 240052001 240197500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4,MGC16025 chr22 40061501 40095500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1I chr2 24006789 24007535 Gain and loss Pancreatic cancer SNP array 17952125 ATAD2B chr22 40084401 40084501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1I chr22 40086621 40086862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40089817 40090052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40093152 40093685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 40093283 40125274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40093283 40125274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40095501 40250500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENTHD1 chr22 40097682 40097787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 40097683 40097787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 40102463 40119828 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr22 40102463 40119828 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 40103127 40103233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240103282 240103334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDAC4 chr22 40104125 40104705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40105025 40105432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40110782 40111918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40111048 40111324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40112425 40112665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240135660 240135745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDAC4 chr2 240142990 240143090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDAC4 chr22 40154002 40167297 Gain and loss Pancreatic cancer SNP array 17952125 ENTHD1 chr22 40159438 40172973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1 chr22 40159438 40172973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1 chr2 240164932 240172725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDAC4 chr2 240164932 240172725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDAC4 chr2 240176381 240176502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HDAC4 chr22 40180222 40189191 Gain and loss Pancreatic cancer SNP array 17952125 ENTHD1 chr22 40185668 40194654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1 chr22 40185668 40194654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1 chr22 40189629 40249493 Gain and loss Pancreatic cancer SNP array 17952125 ENTHD1 chr22 40195075 40254939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1 chr2 240197501 240199000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4 chr2 240199001 240261000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4,MIR4269 chr2 24020220 24020725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 240229483 240230046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HDAC4 chr2 240231170 240231624 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 HDAC4 chr2 240236249 240244042 Gain and loss Pancreatic cancer SNP array 17952125 HDAC4 chr22 40246308 40264966 Gain and loss Pancreatic cancer SNP array 17952125 ENTHD1 chr22 40250501 40259500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENTHD1 chr22 40251754 40270556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1 chr22 40251754 40270556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1 chr22 40259501 40299500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENTHD1,GRAP2 chr2 240261001 240263500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4 chr2 240263501 240306000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4,MIR2467 chr2 240265829 240769420 Gain and loss Pancreatic cancer SNP array 17952125 HDAC4,LOC150935,MIR2467 chr22 40281574 40297170 Gain and loss Pancreatic cancer SNP array 17952125 ENTHD1,GRAP2 chr22 40286960 40302614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1,GRAP2 chr22 40286960 40302614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTHD1,GRAP2 chr2 240291278 240406056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDAC4 chr22 40292313 40323375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRAP2 chr22 40297407 40310371 Gain and loss Pancreatic cancer SNP array 17952125 GRAP2 chr2 240297613 240297687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HDAC4 chr22 40298423 40298523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRAP2 chr22 40299501 40323500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRAP2 chr22 40302853 40315770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAP2 chr22 40302853 40315770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAP2 chr2 240306001 240323500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC4 chr22 40321382 40341520 Gain and loss Pancreatic cancer SNP array 17952125 GRAP2 chr2 240323501 240367500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 40323501 40626000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM83F,GRAP2,LOC100130899,TNRC6B chr22 40326825 40346966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAP2 chr22 40326825 40346966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAP2 chr22 40341826 40384544 Gain and loss Pancreatic cancer SNP array 17952125 GRAP2 chr22 40347240 40389998 Gain or loss Breast cancer - 20668451 GRAP2 chr22 40347240 40389998 Gain or loss Cancer - 20668451 GRAP2 chr22 40347240 40389998 Gain or loss Lung cancer - 20668451 GRAP2 chr22 40347240 40389998 Gain or loss Ovarian cancer - 20668451 GRAP2 chr22 40347240 40389998 Gain or loss Pancreas cancer - 20668451 GRAP2 chr22 40347240 40389998 Gain or loss Prostate cancer - 20668451 GRAP2 chr22 40347241 40389998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAP2 chr22 40347241 40389998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAP2 chr2 240349491 240389514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40356931 40356976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRAP2 chr22 40363032 40363117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRAP2 chr2 240367501 240499000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 40368595 40368694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 40368598 40368694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 40371025 40371125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 40374039 40374140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240385336 240385435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 40394443 40409376 Gain and loss Pancreatic cancer SNP array 17952125 FAM83F chr2 240395470 240395570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 40399886 40416454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM83F chr22 40399886 40416454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83F chr22 40400215 40400321 Gain and loss Pancreatic cancer SNP array 17952125 FAM83F chr22 40403304 40403339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM83F chr2 240404388 240404737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 40405661 40405767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83F chr22 40405858 40405921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM83F chr22 40411047 40418640 Gain and loss Pancreatic cancer SNP array 17952125 FAM83F chr22 40416493 40424086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM83F chr22 40416493 40424086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83F chr22 40420003 40466709 Gain and loss Pancreatic cancer SNP array 17952125 FAM83F,LOC100130899,TNRC6B chr22 40425449 40525406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM83F,LOC100130899,TNRC6B chr22 40425449 40525406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM83F,LOC100130899,TNRC6B chr22 40435175 40435439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40442555 40442635 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr22 40448001 40448081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40456765 49691432 Loss Wilms tumour 250K Genotyping Arrays 21544195 A4GALT,ACO2,ADSL,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,EP300,FAM109B,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100132273,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4535,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SREBF2,ST13,SULT4A1,TBC1D22A,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 40467816 40467915 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr22 40468792 40519959 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr22 40470425 40470746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TNRC6B chr22 40473262 40473363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr2 240487348 240487569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 40491402 40526708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TNRC6B chr2 24049 272462 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACP1,FAM110C,SH3YL1 chr2 24049 344241 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 ACP1,FAM110C,FAM150B,SH3YL1 chr2 24049 40023030 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CRIM1,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FEZ2,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00487,LINC00570,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC375196,LOC400940,LOC645949,LOC727982,LOC728730,LOC730811,LPIN1,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR558,MORN2,MPV17,MRPL33,MSGN1,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PRKD3,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOS1,SOX11,SPAST,SPDYA,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THUMPD2,TMEM178A,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC27,TTC32,UBXN2A,UCN,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 24049 447320 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACP1,FAM110C,FAM150B,SH3YL1 chr2 240499001 240552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 240518874 240518959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 40521178 40546801 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr22 40526624 40552252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40526624 40552252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr2 240541270 240541370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 240545000 240613000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 240548829 240613471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240548829 240613471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240550837 240713841 Gain aortic dissecting aneurysms Array-CGH 22263138 LOC150935 chr2 240550837 240713841 Gain Stenocardia MACArray Karyo 15K BAC-chips 21860640 LOC150935 chr2 240550837 240713841 Gain Vasospasm MACArray Karyo 15K BAC-chips 21860640 LOC150935 chr22 40551719 40555169 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr2 240552501 240693500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC150935 chr22 40553617 40627808 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr22 40555901 45995400 Copy number Normal ReadDepth: A Parallel R Package 21305028 A4GALT,ACO2,ADSL,ARFGAP3,ARHGAP8,ATP5L2,BIK,C22orf32,C22orf46,CCDC134,CENPM,CHADL,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,EP300,FAM109B,FAM118A,FBLN1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100132273,LOC100506714,LOC388906,MCAT,MCHR1,MEI1,MIR1249,MIR1281,MIR33A,MIR4766,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PHF5A,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SREBF2,ST13,SULT4A1,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TSPO,TTLL1,TTLL12,UPK3A,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 40557165 40560615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40559052 40632319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40559052 40632319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40577269 49464725 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 A4GALT,ACO2,ADSL,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,EP300,FAM109B,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100132273,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4535,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SREBF2,ST13,SULT4A1,TBC1D22A,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr2 240581125 240581225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 240585940 240619151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 240601716 240601816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 240607613 240607934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 240617000 240618000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 240617055 240621003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240617055 240621003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240620148 240684788 Gain and loss Pancreatic cancer SNP array 17952125 LOC150935 chr22 40621448 40621516 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr22 40626001 40704000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TNRC6B chr22 40626894 40626962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr2 240628301 240632400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 240629000 240631000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 240629903 240631072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240629903 240631072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240633000 240634000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 240633167 240634162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240633167 240634162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240642233 240642314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 40645545 40647282 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr22 40650991 40652728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40650991 40652728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40654116 40673094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40654116 40673094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40659242 40667648 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr2 240667523 240668452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240668412 240668512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 40684142 40684597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40684142 40684597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr2 240686902 240699836 Gain Normal Quantitative PCR 18989455 LOC150935 chr2 240686902 240699836 Loss Normal Quantitative PCR 18989455 LOC150935 chr2 240688373 240692320 Gain and loss Pancreatic cancer SNP array 17952125 LOC150935 chr2 24069 33871421 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FAM98A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00487,LINC00570,LOC100271832,LOC100505624,LOC100505716,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,LTBP1,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR558,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,PXDN,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPAST,SPDYA,SRD5A2,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC27,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 240693501 240698000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC150935 chr2 240696838 240726737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC150935 chr2 240697192 240698142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC150935 chr22 40697496 40718722 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr2 240699808 240699895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC150935 chr2 240701220 240702389 Gain and loss Pancreatic cancer SNP array 17952125 LOC150935 chr22 40702762 40724171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr22 40702762 40724171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr2 240704562 240705488 Gain and loss Pancreatic cancer SNP array 17952125 LOC150935 chr22 40710467 48247603 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A4GALT,ACO2,ADSL,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,EP300,FAM109B,FAM118A,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100132273,LOC100271722,LOC100506714,LOC150381,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MIR1249,MIR1281,MIR33A,MIR3619,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SGSM3,SHISA8,SLC25A17,SMC1B,SREBF2,ST13,SULT4A1,TBC1D22A,TCF20,TEF,TNFRSF13C,TNRC6B,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr2 240712001 240726500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC150935 chr2 240714000 240724000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LOC150935 chr2 240714653 240724897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC150935 chr2 240714653 240724897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC150935 chr22 40719229 40778960 Gain and loss Pancreatic cancer SNP array 17952125 ADSL,SGSM3,TNRC6B chr22 40721573 40722488 Gain and loss Pancreatic cancer SNP array 17952125 TNRC6B chr22 40724675 40758879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADSL,TNRC6B chr22 40724675 40758879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADSL,TNRC6B chr2 240726501 240758500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 240727000 240728000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr22 40727019 40727988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNRC6B chr2 240727119 240732652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 240727119 240732652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24073169 24073458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 24073171 24073459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 240746933 240747270 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 240748510 240771456 Loss Normal Quantitative PCR 18989455 NOT_FOUND chr2 24075027 24135342 Gain and loss Pancreatic cancer SNP array 17952125 ATAD2B chr2 240755771 240755871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 240758501 240796500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 40769355 40769455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGSM3 chr2 240769563 240769670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 240770743 240770843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 40778885 40791273 Gain and loss Pancreatic cancer SNP array 17952125 SGSM3 chr2 240782550 240782645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 40784283 40796792 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 SGSM3 chr22 40784331 40796792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM3 chr22 40784331 40796792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM3 chr2 240785970 240795754 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 40786001 40806000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SGSM3 chr22 40794755 40799941 Gain and loss Pancreatic cancer SNP array 17952125 SGSM3 chr2 240796501 240804500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 40796564 40796665 Gain and loss Pancreatic cancer SNP array 17952125 SGSM3 chr2 240798436 240800063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 40799696 40799774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SGSM3 chr22 40800199 40804787 Gain and loss Pancreatic cancer SNP array 17952125 SGSM3 chr22 40800201 40805387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SGSM3 chr22 40800201 40805387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM3 chr22 40802010 40802111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SGSM3 chr2 240804501 240835500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 40805645 40810233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKL1,SGSM3 chr22 40805645 40810233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL1,SGSM3 chr22 40806031 40811249 Gain and loss Pancreatic cancer SNP array 17952125 MKL1,SGSM3 chr22 40811477 40816834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr2 24081766 24081987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr22 40819970 40866795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr22 40820803 40820903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MKL1 chr22 40826043 40856408 Loss Normal Birdsuite, version 1.5.2 22087296 MKL1 chr22 40828287 40829457 Gain and loss Pancreatic cancer SNP array 17952125 MKL1 chr22 40833217 40833298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MKL1 chr22 40833733 40834903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr2 240834249 240834349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 40834625 49481052 Loss Developmental delay affymetrix genechip 500K/SNP 6.90 array 21147756 A4GALT,ACO2,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,EP300,FAM109B,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100132273,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MCHR1,MEI1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4535,MIR4762,MIR4763,MIR4766,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SHISA8,SLC25A17,SMC1B,SREBF2,ST13,SULT4A1,TBC1D22A,TCF20,TEF,TNFRSF13C,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr2 240835501 240848500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 240835792 240841600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 40836001 40848210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr22 40837025 40862111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr22 40841625 40848796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr22 40847001 40875511 Gain and loss Pancreatic cancer SNP array 17952125 MKL1 chr22 40847120 40862726 Loss or gain Normal 244K array 17666407 MKL1 chr2 240848501 240875500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 240849805 240849950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40850501 40871000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL1 chr22 40852445 40856852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr22 40852445 40856852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr22 40854976 40859782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr22 40858502 40859749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr22 40859300 40863804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr22 40860532 40883896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr2 24086455 24103149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 24086455 24103149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr22 40866158 40870519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr22 40866158 40870519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr22 40867216 40876799 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 MKL1 chr2 240869240 240904003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR4786,NDUFA10 chr22 40869509 40897115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr22 40871001 40875500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL1 chr2 240875501 240889000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4786 chr22 40875501 40881500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL1 chr22 40875821 40880951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr2 240877306 240877532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 40880517 40935943 Gain and loss Pancreatic cancer SNP array 17952125 MKL1 chr22 40881501 40900500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL1 chr22 40885963 40941389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr22 40885963 40941389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr2 240889001 240934000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NDUFA10 chr22 40889706 40918078 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MKL1 chr2 240899825 240899925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFA10 chr2 24092501 24097500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATAD2B chr2 240934001 240965500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NDUFA10 chr2 240961801 240970089 Gain Normal Birdsuite, version 1.5.2 22087296 NDUFA10,OR6B2 chr2 240964669 240964719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFA10 chr2 240965501 240971500 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR6B2 chr2 240971501 240991000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OR6B3,PRR21 chr2 24097501 24100500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATAD2B chr22 40977728 40977828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MKL1 chr22 40982660 41003800 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MKL1 chr22 40990257 40995365 Gain and loss Pancreatic cancer SNP array 17952125 MKL1 chr2 240991001 240999500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 40995001 41008000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MKL1 chr22 40995703 41000811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKL1 chr2 240999501 241002000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 41000000 44200000 Gain Leukemia RQ-PCR 18688285 A4GALT,ACO2,ARFGAP3,ATP5L2,BIK,C22orf32,C22orf46,CCDC134,CENPM,CHADL,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,EP300,FAM109B,L3MBTL2,LINC00634,LOC100132273,LOC388906,MCAT,MCHR1,MEI1,MIR1281,MIR33A,MIR4766,MKL1,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,PACSIN2,PHF5A,PMM1,POLDIP3,POLR3H,RANGAP1,RBX1,RNU12,RRP7A,RRP7B,SCUBE1,SEPT3,SERHL,SERHL2,SHISA8,SLC25A17,SREBF2,ST13,TCF20,TEF,TNFRSF13C,TOB2,TSPO,TTLL1,TTLL12,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr2 241002001 241017500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 41008001 41167500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MCHR1,MKL1,SLC25A17 chr2 241017501 241057500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241023000 241056000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 241023788 241056168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241023788 241056168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241028625 241028869 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 241030756 241119408 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 MYEOV2,OTOS chr22 41033481 41879232 LOH Normal High-resolution SNP genotyping 21211785 ACO2,CHADL,DNAJB7,EP300,L3MBTL2,MCHR1,MIR1281,MIR4766,PHF5A,RANGAP1,RBX1,SLC25A17,ST13,TEF,TOB2,XPNPEP3,ZC3H7B chr2 241035025 241056798 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr2 241037508 241044790 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 241037508 241044804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241038875 241039241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241044091 241044179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24105721 24123735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 24105721 24123735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 241057501 241153500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYEOV2,OTOS chr2 24106487 25194252 LOH Normal High-resolution SNP genotyping 21211785 ADCY3,ATAD2B,C2orf44,CENPO,DNAJC27,FAM228A,FAM228B,FKBP1B,ITSN2,MFSD2B,NCOA1,PFN4,PTRHD1,SF3B14,TP53I3,UBXN2A chr2 241067000 241146000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 MYEOV2,OTOS chr2 241067511 241146078 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MYEOV2,OTOS chr2 241067512 241149200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYEOV2,OTOS chr2 241067512 241149200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYEOV2,OTOS chr2 241085111 241308861 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 41091699 41326639 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DNAJB7,MIR4766,SLC25A17,ST13,XPNPEP3 chr22 41091699 41407804 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 DNAJB7,MIR4766,RBX1,SLC25A17,ST13,XPNPEP3 chr22 41091699 41407804 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DNAJB7,MIR4766,RBX1,SLC25A17,ST13,XPNPEP3 chr2 241095105 241127485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41100914 41152894 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 241102465 241104906 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr22 41103280 43486969 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 A4GALT,ACO2,ARFGAP3,ATP5L2,C22orf32,C22orf46,CCDC134,CENPM,CHADL,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EP300,FAM109B,L3MBTL2,LINC00634,LOC100132273,LOC388906,MEI1,MIR1281,MIR33A,MIR4766,NAGA,NDUFA6,NFAM1,NHP2L1,PACSIN2,PHF5A,PMM1,POLDIP3,POLR3H,RANGAP1,RBX1,RNU12,RRP7A,RRP7B,SEPT3,SERHL,SERHL2,SHISA8,SLC25A17,SREBF2,ST13,TCF20,TEF,TNFRSF13C,TOB2,TTLL1,WBP2NL,XPNPEP3,XRCC6,ZC3H7B chr22 41106357 41158345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41106357 41158345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241110192 241110558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 241114746 241117185 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 241115311 241115472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 241115408 241115496 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41125569 41125649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 241136230 241170262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 241138829 241217395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 241148000 241152000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 241148144 241152104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241148144 241152104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241153253 241154520 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 241153501 241157500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241156000 241166000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 241156777 241166814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241156777 241166814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241157501 241167500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241167501 241181500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 41167501 41239250 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4766,SLC25A17,ST13 chr2 241171264 241171339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 241173303 241173348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 241174000 241187000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 241174806 241205795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241174806 241205795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241174817 241205795 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 241174817 241205795 Gain or loss Cancer - 20668451 NOT_FOUND chr2 241174817 241205795 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 241174817 241205795 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 241174817 241205795 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 241174817 241205795 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 241181501 241194500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241186144 241186218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 241193521 241219348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241193521 241219348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241194501 241211500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 41195595 41294991 Gain Normal 244K array 17666407 DNAJB7,MIR4766,SLC25A17,ST13,XPNPEP3 chr2 241196781 241196854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 41209145 41335158 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DNAJB7,MIR4766,SLC25A17,ST13,XPNPEP3 chr22 41209205 41284825 Gain Normal aCGH 21627829 DNAJB7,MIR4766,SLC25A17,ST13,XPNPEP3 chr22 41209673 41239280 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MIR4766,SLC25A17,ST13 chr2 241211501 241236500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241217000 241219000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr22 41219482 41227226 Gain Normal Birdsuite, version 1.5.2 22087296 ST13 chr2 241220119 241220844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41221083 41233063 Gain and loss Pancreatic cancer SNP array 17952125 ST13 chr2 24122209 24122307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 24122209 24122312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr22 41222532 41302542 Gain and loss Pancreatic cancer SNP array 17952125 DNAJB7,ST13,XPNPEP3 chr22 41222540 41276824 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DNAJB7,ST13,XPNPEP3 chr22 41225348 41407804 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DNAJB7,RBX1,ST13,XPNPEP3 chr22 41226540 41238510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST13 chr22 41226540 41238510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST13 chr22 41227226 41229384 Gain Normal Birdsuite, version 1.5.2 22087296 ST13 chr22 41227226 41314568 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DNAJB7,ST13,XPNPEP3 chr22 41227682 41335158 Gain Normal aCGH 21627829 DNAJB7,ST13,XPNPEP3 chr2 241228288 241238138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41229372 41264394 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNAJB7,ST13,XPNPEP3 chr22 41229384 41234549 Gain Normal Birdsuite, version 1.5.2 22087296 ST13 chr22 41232271 41284710 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 DNAJB7,ST13,XPNPEP3 chr22 41233067 41240425 Gain and loss Pancreatic cancer SNP array 17952125 ST13 chr22 41234549 41234550 Gain Normal Birdsuite, version 1.5.2 22087296 ST13 chr22 41234550 41237447 Gain Normal Birdsuite, version 1.5.2 22087296 ST13 chr2 241236501 241262500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 41237447 41264406 Gain Normal Birdsuite, version 1.5.2 22087296 DNAJB7,ST13,XPNPEP3 chr22 41237731 41287060 Copy number Rett syndrome References 21593744 DNAJB7,ST13,XPNPEP3 chr22 41237731 41287060 Duplication Rett syndrome References 21593744 DNAJB7,ST13,XPNPEP3 chr22 41238513 41245747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST13 chr22 41238513 41245747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST13 chr22 41239251 41242500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ST13 chr22 41239280 49691432 LOH Normal High-resolution SNP genotyping 21211785 A4GALT,ACO2,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,DNAJB7,EFCAB6,EFCAB6-AS1,EP300,FAM109B,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100132273,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MEI1,MIR1249,MIR1281,MIR3201,MIR33A,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RBX1,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SHISA8,SMC1B,SREBF2,ST13,SULT4A1,TBC1D22A,TCF20,TEF,TNFRSF13C,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XPNPEP3,XRCC6,ZC3H7B chr22 41242501 41296500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAJB7,ST13,XPNPEP3 chr2 241246142 241276633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 241258252 241364564 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 24126087 24140052 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ATAD2B chr2 24126106 24140055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 24126106 24140055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 241262501 241292000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241264000 241270000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr22 41264406 41273586 Gain Normal Birdsuite, version 1.5.2 22087296 XPNPEP3 chr2 241264507 241270990 Amplification or deletion Normal BAC aCGH 22315515 NOT_FOUND chr2 241264512 241270996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241264512 241270996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41264639 41265763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XPNPEP3 chr2 241268534 241273620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41273586 41276824 Gain Normal Birdsuite, version 1.5.2 22087296 XPNPEP3 chr22 41274363 41294885 Gain and loss Pancreatic cancer SNP array 17952125 XPNPEP3 chr2 241274424 241277212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41276824 41280435 Gain Normal Birdsuite, version 1.5.2 22087296 XPNPEP3 chr2 241277343 241308973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 241278129 241278229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 241279000 241286000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr22 41279869 41300332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPNPEP3 chr22 41279869 41300332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPNPEP3 chr2 241279934 241286573 Amplification or deletion Normal BAC aCGH 22315515 NOT_FOUND chr2 241279935 241286569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241279935 241286569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41280435 41296643 Gain Normal Birdsuite, version 1.5.2 22087296 XPNPEP3 chr22 41281173 41307988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPNPEP3 chr22 41285517 41285834 Gain and loss Pancreatic cancer SNP array 17952125 XPNPEP3 chr22 41285566 41285833 Gain and loss Pancreatic cancer SNP array 17952125 XPNPEP3 chr22 41285697 41307135 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 XPNPEP3 chr2 241286840 241290659 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41289650 41289754 Gain and loss Pancreatic cancer SNP array 17952125 XPNPEP3 chr22 41289652 41289754 Gain and loss Pancreatic cancer SNP array 17952125 XPNPEP3 chr22 41290966 41291280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPNPEP3 chr2 241292001 241299500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 41292560 41307777 Gain Normal aCGH 21627829 XPNPEP3 chr22 41296501 41304000 Copy number Normal ReadDepth: A Parallel R Package 21305028 XPNPEP3 chr22 41299323 41299414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XPNPEP3 chr2 241299501 241362500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241301000 241408000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 GPC1,MIR149,PP14571 chr2 241301854 241408310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPC1,MIR149,PP14571 chr2 241301854 241408310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPC1,MIR149,PP14571 chr2 241301856 241408297 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 GPC1,MIR149,PP14571 chr2 241301856 241408297 Amplification or deletion Normal BAC aCGH 22315515 GPC1,MIR149,PP14571 chr22 41304001 41345000 Copy number Normal ReadDepth: A Parallel R Package 21305028 XPNPEP3 chr22 41304225 41335460 Gain and loss Pancreatic cancer SNP array 17952125 XPNPEP3 chr22 41309670 41340906 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 XPNPEP3 chr22 41309671 41340906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPNPEP3 chr22 41309671 41340906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPNPEP3 chr2 24131316 24131605 Gain and loss Pancreatic cancer SNP array 17952125 ATAD2B chr22 41335748 41335897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41335749 41335897 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 241335829 241342244 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41339319 41369847 Gain and loss Pancreatic cancer SNP array 17952125 RBX1 chr22 41341194 41341343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41344757 41375349 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 RBX1 chr22 41344765 41375349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBX1 chr22 41344765 41375349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBX1 chr22 41345001 41358500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBX1 chr2 241351321 241357886 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41358501 41369000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBX1 chr2 241362501 241371000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 41365925 41366224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBX1 chr22 41369001 41376000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RBX1 chr2 241371001 241387500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPC1 chr2 241373180 241479614 Gain and loss Pancreatic cancer SNP array 17952125 ANKMY1,GPC1,MIR149,PP14571 chr22 41376001 41409500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241386122 241386154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPC1 chr2 241387501 241456500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKMY1,GPC1,MIR149,PP14571 chr2 24139913 24140134 Gain and loss Pancreatic cancer SNP array 17952125 ATAD2B chr22 41403979 41404074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 41409501 41427500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 41412626 41416137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41418071 41446820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41418071 41446820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41427501 41517500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EP300,MIR1281 chr22 41428595 41428964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 241430669 241431588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKMY1 chr2 24143963 24152818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 24143963 24152818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATAD2B chr2 241441412 241441497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKMY1 chr2 241456000 241467000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ANKMY1 chr2 241456501 241467500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKMY1 chr2 241456835 241467210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKMY1 chr2 241456835 241467210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKMY1 chr2 241467501 241475000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKMY1 chr2 241474000 241484000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ANKMY1 chr2 241474139 241484087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKMY1 chr2 241474139 241484087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKMY1 chr2 24147420 24161296 Gain and loss Pancreatic cancer SNP array 17952125 ATAD2B chr2 241475001 241523500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKMY1,DUSP28,RNPEPL1 chr2 241477619 242951149 Deletion Cancer Affymetrix 250K Sty array 20164920 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,ATG4B,BOK,BOK-AS1,C2orf54,CAPN10,CXXC11,D2HGDH,DTYMK,DUSP28,FARP2,GAL3ST2,GPR35,HDLBP,ING5,KIF1A,LOC200772,MTERFD2,NEU4,PASK,PDCD1,PPP1R7,RNPEPL1,SEPT2,SNED1,STK25,THAP4 chr22 41483366 41483460 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41483366 41483463 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41488810 41488909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EP300 chr22 41500000 49600000 Deletion abnormal development HR-CGH, Array-CGH 18461090 A4GALT,ACO2,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,C22orf32,C22orf46,CCDC134,CDPF1,CELSR1,CENPM,CERK,CHADL,CN5H6.4,CSDC2,CYB5R3,CYP2D6,CYP2D7P1,DESI1,EFCAB6,EFCAB6-AS1,EP300,FAM109B,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,L3MBTL2,LDOC1L,LINC00207,LINC00229,LINC00634,LOC100128946,LOC100132273,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MEI1,MIR1249,MIR3201,MIR33A,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MPPED1,NAGA,NDUFA6,NFAM1,NHP2L1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PHF5A,PKDREJ,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR3H,PPARA,PRR5,PRR5-ARHGAP8,RANGAP1,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SEPT3,SERHL,SERHL2,SHISA8,SMC1B,SREBF2,SULT4A1,TBC1D22A,TCF20,TEF,TNFRSF13C,TOB2,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WBP2NL,WNT7B,XRCC6,ZC3H7B chr22 41502353 41502649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EP300 chr2 241505328 241505399 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 241509029 241509109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNPEPL1 chr22 41510412 41513050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EP300 chr22 41512367 41512672 Gain and loss Pancreatic cancer SNP array 17952125 EP300 chr22 41517030 41577798 Gain and loss Pancreatic cancer SNP array 17952125 EP300 chr22 41517501 41520500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EP300 chr22 41517765 41518118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EP300 chr22 41520501 41844000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHADL,EP300,L3MBTL2,RANGAP1,TEF,TOB2,ZC3H7B chr22 41522476 41583244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EP300 chr22 41522476 41583244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EP300 chr2 241526361 241526455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPN10 chr2 241528152 241538527 Gain and loss Pancreatic cancer SNP array 17952125 CAPN10 chr2 241534001 241559500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPN10,GPR35 chr2 24153809 24161232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24153809 24161232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241546477 241556246 Gain and loss Pancreatic cancer SNP array 17952125 GPR35 chr2 241552517 241552591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR35 chr2 241559501 241564000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR35 chr2 241564001 241580000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPR35 chr2 241574648 241627669 Gain and loss Pancreatic cancer SNP array 17952125 AQP12B chr22 41579353 41579749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 241580001 241662000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AQP12A,AQP12B,KIF1A chr2 241586000 241682000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 AQP12A,AQP12B,KIF1A chr2 241586927 241682316 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 AQP12A,AQP12B,KIF1A chr2 241586928 241683656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AQP12A,AQP12B,KIF1A chr2 241586928 241683656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AQP12A,AQP12B,KIF1A chr22 41590275 41735649 Gain and loss Pancreatic cancer SNP array 17952125 CHADL,L3MBTL2,RANGAP1,ZC3H7B chr22 41595721 41741095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHADL,L3MBTL2,RANGAP1,ZC3H7B chr22 41595721 41741095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHADL,L3MBTL2,RANGAP1,ZC3H7B chr22 41623603 41623697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 L3MBTL2 chr2 24163894 24181874 Gain and loss Pancreatic cancer SNP array 17952125 UBXN2A chr22 41652141 41653135 Loss Normal 244K array 17666407 RANGAP1 chr2 241662001 241774000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIF1A chr2 241675180 241690420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF1A chr2 241675180 241690420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1A chr22 41676361 41676361 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RANGAP1 chr2 241683000 241690000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 KIF1A chr2 241689870 241754964 Gain and loss Pancreatic cancer SNP array 17952125 KIF1A chr2 241694000 241737000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 KIF1A chr2 241694187 241737551 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KIF1A chr2 241694188 241738352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF1A chr2 241694188 241738352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1A chr2 241697051 241697255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIF1A chr22 41702316 41803606 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 TEF,ZC3H7B chr2 241706813 241707031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1A chr2 241713345 241713405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF1A chr22 41722180 41722255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZC3H7B chr2 241737680 241771112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF1A chr2 241737680 241771112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF1A chr2 241737696 241771112 Gain or loss Breast cancer - 20668451 KIF1A chr2 241737696 241771112 Gain or loss Cancer - 20668451 KIF1A chr2 241737696 241771112 Gain or loss Lung cancer - 20668451 KIF1A chr2 241737696 241771112 Gain or loss Ovarian cancer - 20668451 KIF1A chr2 241737696 241771112 Gain or loss Pancreas cancer - 20668451 KIF1A chr2 241737696 241771112 Gain or loss Prostate cancer - 20668451 KIF1A chr2 241738000 241771000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 KIF1A chr22 41744000 41768894 Duplication Non-syndromic sensorineural hearing loss References 19212409 TEF,ZC3H7B chr2 241746504 241761714 Gain and loss Pancreatic cancer SNP array 17952125 KIF1A chr2 241750041 242951149 Copy number Lung cancer paired-end sequencing 18438408 AGXT,ANO7,ATG4B,BOK,BOK-AS1,C2orf54,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,KIF1A,LOC200772,MTERFD2,NEU4,PASK,PDCD1,PPP1R7,SEPT2,SNED1,STK25,THAP4 chr2 241750407 242951149 Substitutions and indels small cell lung cancer array-CGH 20016488 AGXT,ANO7,ATG4B,BOK,BOK-AS1,C2orf54,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,KIF1A,LOC200772,MTERFD2,NEU4,PASK,PDCD1,PPP1R7,SEPT2,SNED1,STK25,THAP4 chr22 41750764 41783296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TEF,ZC3H7B chr22 41760150 41809932 Gain and loss Pancreatic cancer SNP array 17952125 TEF chr2 241765505 241808868 Gain and loss Pancreatic cancer SNP array 17952125 AGXT chr22 41765589 41815378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEF chr22 41765589 41815378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEF chr2 241771032 241771086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 241771384 242951149 LOH Normal High-resolution SNP genotyping 21211785 AGXT,ANO7,ATG4B,BOK,BOK-AS1,C2orf54,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,LOC200772,MTERFD2,NEU4,PASK,PDCD1,PPP1R7,SEPT2,SNED1,STK25,THAP4 chr2 241774001 241805500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 241776000 241813000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 AGXT chr2 241776596 241813464 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 AGXT chr2 241776597 241813449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGXT chr2 241776597 241813449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGXT chr22 41792816 41792916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEF chr2 24180356 24180454 Gain and loss Pancreatic cancer SNP array 17952125 UBXN2A chr2 241805501 241829000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AGXT,C2orf54 chr2 241809063 241842429 Gain and loss Pancreatic cancer SNP array 17952125 AGXT,C2orf54 chr2 241815000 241903000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 AGXT,C2orf54,LOC200772 chr2 241815352 241903927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGXT,C2orf54,LOC200772 chr2 241815352 241903927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGXT,C2orf54,LOC200772 chr2 241817674 241850072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AGXT,C2orf54 chr22 41818117 41818474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 41831255 41850215 Gain and loss Pancreatic cancer SNP array 17952125 TOB2 chr22 41834262 42046626 Gain Normal 244K array 17666407 ACO2,CSDC2,DESI1,PHF5A,PMM1,POLR3H,TOB2,XRCC6 chr22 41836701 41855661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TOB2 chr22 41836701 41855661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOB2 chr22 41840998 41841273 Gain and loss Pancreatic cancer SNP array 17952125 TOB2 chr2 24184252 24197713 Gain and loss Pancreatic cancer SNP array 17952125 UBXN2A chr22 41844001 41856500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF5A chr22 41853395 41863894 Gain and loss Pancreatic cancer SNP array 17952125 PHF5A chr22 41856501 41860500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF5A chr22 41858156 41869347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACO2,PHF5A chr22 41858156 41869347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACO2,PHF5A chr22 41860501 41862500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF5A chr22 41862501 41874500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACO2,PHF5A chr22 41872051 41883746 Gain and loss Pancreatic cancer SNP array 17952125 ACO2 chr2 241874027 241906542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC200772 chr22 41874501 41913000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACO2 chr22 41877479 41889191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACO2 chr22 41877479 41889191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACO2 chr2 241877674 241884588 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41879227 41879553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACO2 chr22 41881035 42584718 Deletion Breast cancer FISH 17142309 ACO2,C22orf32,C22orf46,CCDC134,CENPM,CSDC2,CYP2D6,CYP2D7P1,DESI1,FAM109B,LINC00634,LOC100132273,MEI1,MIR33A,NAGA,NDUFA6,NHP2L1,PMM1,POLR3H,SEPT3,SHISA8,SREBF2,TCF20,TNFRSF13C,WBP2NL,XRCC6 chr2 241886697 241888399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 41887127 41907599 Gain and loss Pancreatic cancer SNP array 17952125 ACO2 chr2 241888134 241975225 Gain and loss Pancreatic cancer SNP array 17952125 LOC200772,SNED1 chr22 41892572 41913076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACO2 chr22 41892572 41913076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACO2 chr2 241903000 241942000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LOC200772,SNED1 chr2 241903001 241904500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC200772 chr2 241903396 241942115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC200772,SNED1 chr2 241903396 241942115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC200772,SNED1 chr2 241903953 241942114 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LOC200772,SNED1 chr2 24191183 24199851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBXN2A chr2 24191183 24199851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBXN2A chr22 41919162 41919620 Gain and loss Pancreatic cancer SNP array 17952125 ACO2 chr22 41923501 42025000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACO2,CSDC2,DESI1,PMM1,POLR3H,XRCC6 chr22 41924496 42063823 Gain and loss Pancreatic cancer SNP array 17952125 ACO2,CSDC2,DESI1,PMM1,POLR3H,XRCC6 chr22 41925093 41925688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POLR3H chr22 41929174 42069299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSDC2,DESI1,PMM1,POLR3H,XRCC6 chr22 41929174 42069299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSDC2,DESI1,PMM1,POLR3H,XRCC6 chr22 41931532 41931886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POLR3H chr2 241942501 241945000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNED1 chr2 241944000 242082000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 MTERFD2,PASK,SNED1 chr2 241944384 242082928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTERFD2,PASK,SNED1 chr2 241944384 242082928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTERFD2,PASK,SNED1 chr2 241952915 241952987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNED1 chr2 241974775 242013432 Gain and loss Pancreatic cancer SNP array 17952125 SNED1 chr22 41976529 41976629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PMM1 chr2 241982353 241982453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNED1 chr2 24199854 24246010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFSD2B,UBXN2A chr2 24200740 24268070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf44,MFSD2B,UBXN2A chr2 24200740 24268070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf44,MFSD2B,UBXN2A chr2 242015701 242154245 Gain and loss Pancreatic cancer SNP array 17952125 ANO7,MTERFD2,PASK,PPP1R7,SNED1 chr22 42017102 42017162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 242018789 242063692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTERFD2,PASK,SNED1 chr2 24202105 24210961 Gain and loss Pancreatic cancer SNP array 17952125 UBXN2A chr2 242024232 242024304 Gain and loss Pancreatic cancer SNP array 17952125 SNED1 chr22 42025001 42111000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C22orf46,MEI1,NHP2L1,XRCC6 chr2 242025024 242025124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNED1 chr2 242044501 242078000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PASK chr2 242066404 242067081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PASK chr2 242074539 242074618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PASK chr2 242078001 242089500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PASK chr2 242080235 242717659 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANO7,ATG4B,BOK,BOK-AS1,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,PASK,PPP1R7,SEPT2,STK25,THAP4 chr2 242083000 242096000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 PASK,PPP1R7 chr2 242083104 242096707 Gain or loss Breast cancer - 20668451 PASK,PPP1R7 chr2 242083104 242096707 Gain or loss Cancer - 20668451 PASK,PPP1R7 chr2 242083104 242096707 Gain or loss Lung cancer - 20668451 PASK,PPP1R7 chr2 242083104 242096707 Gain or loss Ovarian cancer - 20668451 PASK,PPP1R7 chr2 242083104 242096707 Gain or loss Pancreas cancer - 20668451 PASK,PPP1R7 chr2 242083104 242096707 Gain or loss Prostate cancer - 20668451 PASK,PPP1R7 chr2 242083105 242096776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PASK,PPP1R7 chr2 242083105 242096776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PASK,PPP1R7 chr2 242089501 242148500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO7,PPP1R7 chr22 42111001 42259500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC134,MEI1,SREBF2 chr2 24211956 24219379 Gain and loss Pancreatic cancer SNP array 17952125 UBXN2A chr22 42138080 42200789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC134,MEI1 chr22 42138080 42200789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC134,MEI1 chr2 242139945 242221648 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANO7,HDLBP chr22 42145490 42195343 Gain and loss Pancreatic cancer SNP array 17952125 MEI1 chr2 242146000 242162000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ANO7 chr22 42146627 42146727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEI1 chr2 242146864 242162226 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ANO7 chr2 242146865 242162222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO7 chr2 242146865 242162222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO7 chr2 242148501 242153500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO7 chr22 42148565 42148630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEI1 chr2 242149023 242149091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO7 chr2 242153501 242352500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANO7,FARP2,HDLBP,SEPT2 chr2 242154425 242168024 Gain and loss Pancreatic cancer SNP array 17952125 ANO7,HDLBP chr2 242154777 242156004 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANO7 chr2 242154846 242156009 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANO7 chr2 242154846 242156009 Loss Normal aCGH 21627829 ANO7 chr2 242157688 242157737 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 ANO7 chr2 24216393 24237895 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MFSD2B,UBXN2A chr2 242172000 242225000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 HDLBP chr2 242172493 242225537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDLBP chr2 242172493 242225537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDLBP chr2 242173056 242173163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDLBP chr2 242177893 242179344 Gain Normal aCGH 21627829 HDLBP chr2 242200028 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-318K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,NEU4,PDCD1,SEPT2,STK25,THAP4 chr2 242200028 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-370K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,NEU4,PDCD1,SEPT2,STK25,THAP4 chr2 242200028 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-372K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,NEU4,PDCD1,SEPT2,STK25,THAP4 chr2 242218182 242233541 Gain and loss Pancreatic cancer SNP array 17952125 HDLBP chr2 242225000 242261000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 HDLBP,SEPT2 chr2 242225301 242261945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDLBP,SEPT2 chr2 242225301 242261945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDLBP,SEPT2 chr2 242226225 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-328K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,NEU4,PDCD1,SEPT2,STK25,THAP4 chr2 242226225 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-357K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,NEU4,PDCD1,SEPT2,STK25,THAP4 chr2 242226225 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-380K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,HDLBP,ING5,NEU4,PDCD1,SEPT2,STK25,THAP4 chr22 42227750 42227782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 24224163 24227393 Gain Normal 244K array 17666407 NOT_FOUND chr22 42242317 42242433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SREBF2 chr2 242243811 242296645 Gain and loss Pancreatic cancer SNP array 17952125 FARP2,HDLBP,SEPT2 chr2 242244373 242244462 Gain and loss Pancreatic cancer SNP array 17952125 HDLBP chr2 242244373 242244481 Gain and loss Pancreatic cancer SNP array 17952125 HDLBP chr22 42249555 42533118 Gain and loss Pancreatic cancer SNP array 17952125 C22orf32,CENPM,CYP2D6,FAM109B,LINC00634,LOC100132273,MIR33A,NAGA,NDUFA6,SEPT3,SHISA8,SREBF2,TNFRSF13C,WBP2NL chr2 242254434 242292729 Duplication Schizophrenia NimbleGen HD2 platform 21346763 HDLBP,SEPT2 chr22 42255985 42539550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C22orf32,CENPM,CYP2D6,CYP2D7P1,FAM109B,LINC00634,LOC100132273,MIR33A,NAGA,NDUFA6,SEPT3,SHISA8,SREBF2,TNFRSF13C,WBP2NL chr22 42255985 42539550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C22orf32,CENPM,CYP2D6,CYP2D7P1,FAM109B,LINC00634,LOC100132273,MIR33A,NAGA,NDUFA6,SEPT3,SHISA8,SREBF2,TNFRSF13C,WBP2NL chr2 242263000 242275000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SEPT2 chr2 242263829 242275056 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SEPT2 chr2 242263830 242274900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEPT2 chr2 242263830 242274900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEPT2 chr22 42267900 42313373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR33A,SHISA8,SREBF2 chr22 42272004 42444899 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CENPM,LINC00634,MIR33A,SEPT3,SHISA8,SREBF2,TNFRSF13C,WBP2NL chr2 242290000 242317000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 FARP2,SEPT2 chr2 242290128 242317569 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FARP2,SEPT2 chr2 242290129 242317560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FARP2,SEPT2 chr2 242290129 242317560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP2,SEPT2 chr2 242296608 242333259 Gain and loss Pancreatic cancer SNP array 17952125 FARP2 chr22 42304452 42304552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 242322000 242356000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 FARP2 chr2 242322690 242356904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FARP2 chr2 242322690 242356904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP2 chr2 242335147 242346217 Gain and loss Pancreatic cancer SNP array 17952125 FARP2 chr2 242352501 242366500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FARP2 chr2 242361446 242388877 Gain and loss Pancreatic cancer SNP array 17952125 FARP2 chr2 242364000 242392000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 FARP2 chr2 242364913 242392375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FARP2 chr2 242364913 242392375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP2 chr22 42365770 42365859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 42374061 42374145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEPT3 chr2 242381701 242674919 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ATG4B,BOK,BOK-AS1,D2HGDH,DTYMK,FARP2,ING5,STK25,THAP4 chr2 242381701 242683347 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ATG4B,BOK,BOK-AS1,D2HGDH,DTYMK,FARP2,ING5,STK25,THAP4 chr2 242382001 242384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FARP2 chr2 242384001 242412000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FARP2 chr2 242393199 242393340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FARP2 chr2 242394045 242428214 Gain and loss Pancreatic cancer SNP array 17952125 FARP2 chr2 242398000 242407000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 FARP2 chr2 242398593 242407412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FARP2 chr2 242398593 242407412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FARP2 chr2 242400853 242492158 Duplication Schizophrenia NimbleGen HD2 platform 21346763 BOK-AS1,FARP2,STK25 chr2 242403776 242403834 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FARP2 chr2 242405179 242405350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FARP2 chr22 42406948 42407019 Gain and loss Pancreatic cancer SNP array 17952125 WBP2NL chr2 242407722 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-307K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,NEU4,PDCD1,STK25,THAP4 chr2 242407722 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-309K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,NEU4,PDCD1,STK25,THAP4 chr2 242407722 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-327K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,NEU4,PDCD1,STK25,THAP4 chr2 242407722 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-330K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,NEU4,PDCD1,STK25,THAP4 chr2 242407722 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-341K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,NEU4,PDCD1,STK25,THAP4 chr2 242407722 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-363K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,NEU4,PDCD1,STK25,THAP4 chr2 242407722 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-371K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,NEU4,PDCD1,STK25,THAP4 chr2 242407722 242951149 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-374K arrays 21546498 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,NEU4,PDCD1,STK25,THAP4 chr2 242412001 242413500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FARP2 chr2 242416289 242416348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FARP2 chr2 242430590 242431347 Loss Normal 244K array 17666407 FARP2 chr2 242431994 242591956 Deletion Normal Affymetrix 6.0 microarrays 20967226 ATG4B,BOK,BOK-AS1,FARP2,STK25,THAP4 chr2 242432058 242608684 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ATG4B,BOK,BOK-AS1,FARP2,STK25,THAP4 chr2 242433501 242437500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FARP2,STK25 chr2 242437501 242473500 Copy number Normal ReadDepth: A Parallel R Package 21305028 STK25 chr2 242440000 242449000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 STK25 chr2 242440711 242449731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STK25 chr2 242445742 242642787 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ATG4B,BOK,BOK-AS1,DTYMK,ING5,STK25,THAP4 chr2 242454264 242454364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 242460000 242464000 Duplication Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr2 242460559 242464155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 242473501 242611500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATG4B,BOK,BOK-AS1,THAP4 chr2 24247503 24247568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 242484809 242493375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BOK-AS1 chr2 242484809 242493375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BOK-AS1 chr2 242498268 242658584 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ATG4B,BOK,BOK-AS1,DTYMK,ING5,THAP4 chr2 242498268 242658584 Copy number loss Normal High-resolution SNP genotyping 21211785 ATG4B,BOK,BOK-AS1,DTYMK,ING5,THAP4 chr2 242498268 242951149 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,GAL3ST2,ING5,NEU4,PDCD1,THAP4 chr2 242498268 242951149 Copy number loss Normal High-resolution SNP genotyping 21211785 ATG4B,BOK,BOK-AS1,CXXC11,D2HGDH,DTYMK,GAL3ST2,ING5,NEU4,PDCD1,THAP4 chr2 24249893 24257802 Gain and loss Pancreatic cancer SNP array 17952125 C2orf44 chr2 242501268 242717042 Gain Oral cancer 105K CGH oligonucleotide array 21386901 ATG4B,BOK,D2HGDH,DTYMK,GAL3ST2,ING5,THAP4 chr2 242514593 242655973 Deletion Rett syndrome References 21593744 ATG4B,DTYMK,ING5,THAP4 chr2 24251475 24268071 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 C2orf44 chr22 42522501 42540575 Copy number Normal Paralogue Ratio Test systems 17175532 CYP2D6,CYP2D7P1 chr22 42522501 42540575 Duplication Breast cancer Affymetrix GeneChip 3000Dx 20515869 CYP2D6,CYP2D7P1 chr22 42522501 42540575 Duplication Dextromethorphan metabolism real-time qPCR 20700584 CYP2D6,CYP2D7P1 chr22 42522502 42526883 Amplificationlication Normal drug metabolizing enzyme 21833166 CYP2D6 chr22 42523337 42523558 Gain and loss Pancreatic cancer SNP array 17952125 CYP2D6 chr22 42529445 42529990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 242529849 242529944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THAP4 chr22 42536214 42540575 Amplificationlication Normal - 21833166 CYP2D7P1 chr22 42536214 42540575 Amplificationlication Normal drug metabolizing enzyme 21833166 CYP2D7P1 chr22 42545290 42583299 Gain and loss Pancreatic cancer SNP array 17952125 TCF20 chr22 42547501 42683000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC388906,TCF20 chr22 42547701 42592519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCF20 chr2 242548091 242548191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THAP4 chr22 42551722 42589731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF20 chr22 42551722 42589731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF20 chr2 242564127 242666740 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATG4B,DTYMK,ING5,THAP4 chr2 242564127 242672554 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATG4B,DTYMK,ING5,THAP4 chr2 242564127 242674919 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564127 242674919 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564127 242683192 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564127 242683347 Deletion Normal Affymetrix 6.0 microarrays 20967226 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564127 242683347 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564127 242683347 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564127 242686330 Deletion Normal Affymetrix 6.0 microarrays 20967226 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564127 242686330 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564127 242691720 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564139 242683192 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564139 242683359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr2 242564139 242685942 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATG4B,D2HGDH,DTYMK,ING5,THAP4 chr22 42566702 42566797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF20 chr2 242566830 242591956 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 ATG4B,THAP4 chr2 242573981 242656206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG4B,DTYMK,ING5,THAP4 chr2 242573981 242656206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG4B,DTYMK,ING5,THAP4 chr22 42576090 42593477 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 TCF20 chr2 242578360 242578761 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ATG4B chr2 242596399 242602165 Deletion Schizophrenia NimbleGen HD2 platform 21346763 ATG4B chr22 42600000 47000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A4GALT,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,CDPF1,CELSR1,CN5H6.4,CYB5R3,EFCAB6,EFCAB6-AS1,FAM118A,FBLN1,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100271722,LOC100506714,LOC150381,LOC388906,LOC730668,MCAT,MIR1249,MIR3619,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MPPED1,NFAM1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,POLDIP3,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SERHL,SERHL2,SMC1B,SULT4A1,TCF20,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WNT7B chr22 42600000 47000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A4GALT,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,CDPF1,CELSR1,CN5H6.4,CYB5R3,EFCAB6,EFCAB6-AS1,FAM118A,FBLN1,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100271722,LOC100506714,LOC150381,LOC388906,LOC730668,MCAT,MIR1249,MIR3619,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MPPED1,NFAM1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,POLDIP3,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SERHL,SERHL2,SMC1B,SULT4A1,TCF20,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WNT7B chr22 42600000 49691432 Deletion Phelan-Mcdermid syndrome References 18505557 A4GALT,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,CYB5R3,EFCAB6,EFCAB6-AS1,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MPPED1,NFAM1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,POLDIP3,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SERHL,SERHL2,SMC1B,SULT4A1,TBC1D22A,TCF20,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WNT7B chr22 42600000 49691432 Haploinsufficiency, deletion Autism - 21565394 A4GALT,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,CYB5R3,EFCAB6,EFCAB6-AS1,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MPPED1,NFAM1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,POLDIP3,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SERHL,SERHL2,SMC1B,SULT4A1,TBC1D22A,TCF20,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WNT7B chr22 42600000 49691432 Microdeletion Autism - 21558424 A4GALT,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,CYB5R3,EFCAB6,EFCAB6-AS1,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MPPED1,NFAM1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,POLDIP3,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SERHL,SERHL2,SMC1B,SULT4A1,TBC1D22A,TCF20,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WNT7B chr22 42600000 49691432 Microdeletion Autism References 21565394 A4GALT,ARFGAP3,ARHGAP8,ATP5L2,ATXN10,BIK,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,CYB5R3,EFCAB6,EFCAB6-AS1,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC388906,LOC730668,MCAT,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MPPED1,NFAM1,NUP50,PACSIN2,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,POLDIP3,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,RNU12,RRP7A,RRP7B,SAMM50,SCUBE1,SERHL,SERHL2,SMC1B,SULT4A1,TBC1D22A,TCF20,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WNT7B chr22 42600460 42612791 Gain and loss Pancreatic cancer SNP array 17952125 TCF20 chr22 42606892 42619223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF20 chr22 42606892 42619223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF20 chr2 242606997 242738129 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATG4B,D2HGDH,DTYMK,GAL3ST2,ING5 chr2 242608697 242674931 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ATG4B,D2HGDH,DTYMK,ING5 chr2 242611501 242614000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATG4B chr22 42613609 42627383 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr2 242614001 242638000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DTYMK chr2 242619209 242777411 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 D2HGDH,DTYMK,GAL3ST2,ING5,NEU4 chr2 242619209 242787722 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 D2HGDH,DTYMK,GAL3ST2,ING5,NEU4 chr2 242619209 242787722 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 D2HGDH,DTYMK,GAL3ST2,ING5,NEU4 chr2 242628620 242738130 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 D2HGDH,GAL3ST2,ING5 chr2 242633541 242754053 Loss or gain Normal 244K array 17666407 D2HGDH,GAL3ST2,ING5,NEU4 chr2 242636531 242717659 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 D2HGDH,GAL3ST2,ING5 chr2 242637537 242638448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 242638001 242951149 Copy number Normal ReadDepth: A Parallel R Package 21305028 CXXC11,D2HGDH,GAL3ST2,ING5,NEU4,PDCD1 chr2 242643447 242665856 Gain Normal Birdsuite, version 1.5.2 22087296 ING5 chr22 42644520 42668349 Gain and loss Pancreatic cancer SNP array 17952125 LOC388906 chr22 42650952 42674781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC388906 chr22 42650952 42674781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC388906 chr2 242658584 242951149 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CXXC11,D2HGDH,GAL3ST2,ING5,NEU4,PDCD1 chr2 242659035 242730382 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 D2HGDH,GAL3ST2,ING5 chr2 242662435 242683643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 D2HGDH,ING5 chr2 242663060 242692029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 D2HGDH,ING5 chr2 242663763 242670457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ING5 chr2 242663813 242687366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 D2HGDH,ING5 chr2 242664243 242677784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 D2HGDH,ING5 chr22 42664618 42664718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 242665856 242692658 Gain or loss Normal Birdsuite, version 1.5.2 22087296 D2HGDH,ING5 chr22 42673949 42723744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 42673949 42723744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 42676202 42717312 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 242679516 242751142 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 D2HGDH,GAL3ST2,NEU4 chr2 242679518 242729712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 D2HGDH,GAL3ST2 chr2 242679518 242729712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 D2HGDH,GAL3ST2 chr22 42683001 42801000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFAM1 chr22 42684240 42684555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 2426909 2426998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 242691720 242738117 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 D2HGDH,GAL3ST2 chr2 242692658 242738129 Loss Normal Birdsuite, version 1.5.2 22087296 D2HGDH,GAL3ST2 chr2 242694127 242738117 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 D2HGDH,GAL3ST2 chr2 242710680 242710877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 242715301 242715376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 42719992 42890002 Gain and loss Pancreatic cancer SNP array 17952125 NFAM1 chr22 42726424 42896434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFAM1 chr22 42726424 42896434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFAM1 chr22 42781376 42781411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NFAM1 chr2 24279237 24437087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM228A,FAM228B,FKBP1B,ITSN2,PFN4,SF3B14,TP53I3 chr2 24279237 24437087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM228A,FAM228B,FKBP1B,ITSN2,PFN4,SF3B14,TP53I3 chr22 42801001 43006000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NFAM1,POLDIP3,RRP7A,RRP7B,SERHL,SERHL2 chr2 242816706 242816765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 42829162 42829247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 42835813 42835896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 242851585 242851685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 42871438 42871523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 42877870 42877955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 242892292 242892392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 42896275 42897356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SERHL chr22 42902656 42927935 Gain and loss Pancreatic cancer SNP array 17952125 RRP7A,SERHL chr22 42908182 42933863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RRP7A,SERHL chr22 42908182 42933863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RRP7A,SERHL chr22 42968722 43009197 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 POLDIP3,RRP7B,SERHL2 chr22 42968722 43026202 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CYB5R3,POLDIP3,RNU12,RRP7B,SERHL2 chr22 42968722 43026202 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CYB5R3,POLDIP3,RNU12,RRP7B,SERHL2 chr22 42970619 42971289 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 RRP7B chr22 42970880 43040064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP5L2,CYB5R3,POLDIP3,RNU12,RRP7B chr22 42970880 43040064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP5L2,CYB5R3,POLDIP3,RNU12,RRP7B chr22 43006001 43148500 Copy number Normal ReadDepth: A Parallel R Package 21305028 A4GALT,ATP5L2,CYB5R3,POLDIP3,RNU12 chr22 43006211 43017532 Gain and loss Pancreatic cancer SNP array 17952125 CYB5R3,POLDIP3,RNU12 chr22 43007198 43026202 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CYB5R3,POLDIP3,RNU12 chr22 43029827 43030106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYB5R3 chr22 43029881 43030160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYB5R3 chr2 24309623 24326217 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 43110000 50630000 Loss Breast cancer aCGH 21509527 A4GALT,ALG12,ARFGAP3,ARHGAP8,ATXN10,BIK,BRD1,C22orf26,C22orf34,CDPF1,CELSR1,CERK,CN5H6.4,CRELD2,EFCAB6,EFCAB6-AS1,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,IL17REL,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC730668,LOC90834,MCAT,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,MLC1,MOV10L1,MPPED1,NUP50,PACSIN2,PANX2,PARVB,PARVG,PHF21B,PIM3,PKDREJ,PNPLA3,PNPLA5,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SAMM50,SCUBE1,SMC1B,SULT4A1,TBC1D22A,TRABD,TRMU,TSPO,TTC38,TTLL1,TTLL12,UPK3A,WNT7B,ZBED4 chr22 43133852 43178584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 43140095 43140828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 43154960 43155043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 43155501 43187000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 43179449 43205079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARFGAP3 chr22 43188029 43189358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24319039 25368389 Deletion Acute myeloid leukemia - 21251322 ADCY3,CENPO,DNAJC27,DNAJC27-AS1,EFR3B,FAM228A,FAM228B,ITSN2,NCOA1,PFN4,PTRHD1 chr22 43196501 43198000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARFGAP3 chr22 43198001 43207000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARFGAP3 chr22 43208987 43214542 Gain and loss Pancreatic cancer SNP array 17952125 ARFGAP3 chr22 43211501 43216500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARFGAP3 chr22 43216501 43225500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARFGAP3 chr22 43225501 43351000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARFGAP3,PACSIN2 chr22 43258039 43258261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 43267114 43272669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACSIN2 chr22 43267114 43272669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACSIN2 chr22 43283386 43284667 Gain and loss Pancreatic cancer SNP array 17952125 PACSIN2 chr22 43287345 43287808 Gain and loss Pancreatic cancer SNP array 17952125 PACSIN2 chr22 43302101 43302178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PACSIN2 chr22 43325483 43325583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PACSIN2 chr22 43341510 43342794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACSIN2 chr22 43343883 43346993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PACSIN2 chr22 43343883 43346993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PACSIN2 chr22 43347341 43531066 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BIK,MCAT,PACSIN2,TTLL1 chr22 43351001 43499500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PACSIN2,TTLL1 chr22 43366670 43400291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PACSIN2 chr2 24337386 24462599 Gain and loss Pancreatic cancer SNP array 17952125 FAM228A,FAM228B,ITSN2,PFN4 chr22 43381212 43460030 Gain Normal Birdsuite, version 1.5.2 22087296 PACSIN2,TTLL1 chr22 43393474 43579192 Gain and loss Pancreatic cancer SNP array 17952125 BIK,MCAT,PACSIN2,TSPO,TTLL1,TTLL12 chr22 43426379 43426923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 43435713 43435777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTLL1 chr22 43439702 43531066 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BIK,MCAT,TTLL1 chr22 43443257 43637329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BIK,MCAT,SCUBE1,TSPO,TTLL1,TTLL12 chr22 43443257 43637329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIK,MCAT,SCUBE1,TSPO,TTLL1,TTLL12 chr22 43456506 43467991 Gain Normal 244K array 17666407 TTLL1 chr22 43499501 43514000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BIK chr2 24349987 24350114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM228B chr22 43514001 43755000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BIK,MCAT,SCUBE1,TSPO,TTLL12 chr22 43526252 43526326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 43576233 43594548 Gain and loss Pancreatic cancer SNP array 17952125 TTLL12 chr22 43597582 43726118 Gain and loss Pancreatic cancer SNP array 17952125 SCUBE1 chr22 43629881 43629946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE1 chr22 43635918 43636018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE1 chr22 43655706 43784473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCUBE1 chr22 43655706 43784473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCUBE1 chr22 43665360 43665410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE1 chr22 43672978 43673073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE1 chr22 43676091 43677015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCUBE1 chr22 43679048 43679393 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCUBE1 chr22 43690700 43690800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE1 chr22 43729084 43729116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCUBE1 chr22 43755001 43875500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MPPED1 chr2 24377793 26213812 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADCY3,ASXL2,CENPO,DNAJC27,DNAJC27-AS1,DNMT3A,DTNB,EFR3B,FAM228A,FAM228B,ITSN2,KIF3C,MIR1301,NCOA1,POMC,PTRHD1 chr22 43825739 43825783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPPED1 chr22 43880263 43901242 Gain and loss Pancreatic cancer SNP array 17952125 MPPED1 chr22 43894761 44221622 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EFCAB6,EFCAB6-AS1,MPPED1,SULT4A1 chr22 43897431 43897530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MPPED1 chr22 43904176 43904427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 43912247 43957323 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB6,EFCAB6-AS1 chr22 43922144 43922244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB6-AS1 chr22 43933383 43935787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EFCAB6 chr22 43938390 43962556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 43938390 43962556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 43945366 44575545 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EFCAB6,PARVB,PARVG,PNPLA3,PNPLA5,SAMM50,SULT4A1 chr22 43966787 44015314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 43966787 44015314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 43969501 44075500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EFCAB6 chr22 43975499 43975564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 43992017 43992503 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB6 chr22 44001400 44012291 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB6 chr22 44003066 49202107 Deletion Acute myeloid leukemia - 21251322 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,EFCAB6,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC730668,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SAMM50,SMC1B,SULT4A1,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 44025400 44058371 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB6 chr22 44050117 44050630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44059527 44070418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44059527 44070418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44060895 44130037 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB6 chr22 44062318 44062383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB6 chr2 24406775 24407047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM228A chr22 44083527 44116498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44083527 44116498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44097291 44575545 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EFCAB6,PARVB,PARVG,PNPLA3,PNPLA5,SAMM50,SULT4A1 chr22 44102545 44102872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EFCAB6 chr22 44118611 44188164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44118611 44188164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44120125 44151969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EFCAB6 chr22 44123950 44124890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EFCAB6 chr22 44130109 44148830 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB6 chr22 44188244 44206966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44188244 44206966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB6 chr22 44196501 44425500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EFCAB6,PARVB,PNPLA3,PNPLA5,SAMM50,SULT4A1 chr22 44200000 48400000 Deletion Ovarian cancer Affymetrix 50K XbaI SNP mapping arrays, Affymetrix U133plus2.0 arrays 19193619 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,EFCAB6,FAM118A,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100271722,LOC100506714,LOC150381,LOC730668,MIR1249,MIR3619,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SAMM50,SMC1B,SULT4A1,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 44200000 48400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,EFCAB6,FAM118A,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100271722,LOC100506714,LOC150381,LOC730668,MIR1249,MIR3619,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PARVB,PARVG,PHF21B,PKDREJ,PNPLA3,PNPLA5,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SAMM50,SMC1B,SULT4A1,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 44212317 44661555 Gain Normal Birdsuite, version 1.5.2 22087296 KIAA1644,PARVB,PARVG,PNPLA3,PNPLA5,SAMM50,SULT4A1 chr22 44218460 44218508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 44219256 44317551 Gain and loss Pancreatic cancer SNP array 17952125 PNPLA5,SULT4A1 chr22 44253685 44254014 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 SULT4A1 chr2 24426149 24551934 Amplification Glioblastoma multiforme Array CGH 19115005 ITSN2 chr22 44277383 44375678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNPLA3,PNPLA5,SAMM50 chr22 44277383 44375678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNPLA3,PNPLA5,SAMM50 chr22 44281063 44281152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PNPLA5 chr22 44306275 44306356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 44317191 44317264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 44320295 44320367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PNPLA3 chr22 44324717 44324794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PNPLA3 chr22 44340948 44341048 Gain and loss Pancreatic cancer SNP array 17952125 PNPLA3 chr22 44361821 44361934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SAMM50 chr22 44388481 44561366 Gain and loss Pancreatic cancer SNP array 17952125 PARVB,SAMM50 chr22 44399075 44399175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARVB chr22 44408076 44408858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PARVB chr2 24441044 24441134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITSN2 chr22 44420714 44420798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARVB chr22 44433008 44632281 Copy number Lung cancer paired-end sequencing 18438408 PARVB,PARVG chr22 44446351 44619493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARVB,PARVG chr22 44446351 44619493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARVB,PARVG chr22 44465832 44465917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARVB chr22 44543091 44543184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARVB chr2 24454964 24465219 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ITSN2 chr2 24454976 24455015 Loss Normal Birdsuite, version 1.5.2 22087296 ITSN2 chr2 24455015 24455284 Loss Normal Birdsuite, version 1.5.2 22087296 ITSN2 chr2 24455016 24464633 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ITSN2 chr2 24455284 24460244 Loss Normal Birdsuite, version 1.5.2 22087296 ITSN2 chr22 44566962 44568180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24460244 24460486 Loss Normal Birdsuite, version 1.5.2 22087296 ITSN2 chr2 24460486 24464292 Loss Normal Birdsuite, version 1.5.2 22087296 ITSN2 chr22 44631001 44636500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 44638196 44666568 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1644 chr22 44640001 44644500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA1644 chr2 24464292 24464632 Loss Normal Birdsuite, version 1.5.2 22087296 ITSN2 chr2 24464632 24465231 Loss Normal Birdsuite, version 1.5.2 22087296 ITSN2 chr22 44646438 49691432 Copy number Lung cancer paired-end sequencing 18438408 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,KIAA1644,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC730668,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PHF21B,PKDREJ,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SMC1B,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr2 2446471 2446571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 24464922 24465194 Gain and loss Pancreatic cancer SNP array 17952125 ITSN2 chr22 44651001 44787500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA1644 chr2 24465231 24469250 Loss Normal Birdsuite, version 1.5.2 22087296 ITSN2 chr22 44652801 44656800 Deletion Glioma mate-paired sequence 20126413 KIAA1644 chr22 44695192 44695254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1644 chr22 44696320 44751395 Gain or loss Breast cancer - 20668451 KIAA1644 chr22 44696320 44751395 Gain or loss Cancer - 20668451 KIAA1644 chr22 44696320 44751395 Gain or loss Lung cancer - 20668451 KIAA1644 chr22 44696320 44751395 Gain or loss Ovarian cancer - 20668451 KIAA1644 chr22 44696320 44751395 Gain or loss Pancreas cancer - 20668451 KIAA1644 chr22 44696320 44751395 Gain or loss Prostate cancer - 20668451 KIAA1644 chr22 44696323 44751395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1644 chr22 44696323 44751395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1644 chr22 44712209 44712290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 44727680 44727743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 44741999 44742049 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 44744559 49691432 Deletion Normal Arbitrated Peel-off 21527027 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC730668,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PHF21B,PKDREJ,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SMC1B,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 44744559 49691432 Deletion Normal GeneGISTIC 21527027 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC730668,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PHF21B,PKDREJ,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SMC1B,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 44744559 49691432 Deletion Normal Standard peel-off 21527027 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,LDOC1L,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC730668,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PHF21B,PKDREJ,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SMC1B,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 44751479 44751579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 44766858 44770543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44767616 44803467 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr22 44777122 44854565 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr22 44787034 44787417 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44787501 44859000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 44794498 44796695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44802402 44828037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44825003 44828688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 44825003 44828688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 44825762 44913242 Deletion Normal Standard GISTIC 21527027 LDOC1L chr22 44828413 44884554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 44829140 44829231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44829148 44829221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44830085 44830167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44850146 45064227 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LDOC1L,LINC00207,LINC00229 chr22 44859001 44869000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 44867028 44958329 Gain and loss Pancreatic cancer SNP array 17952125 LDOC1L chr22 44869001 44908000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LDOC1L chr22 44875287 44957773 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 LDOC1L chr22 44887293 44887366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 44888230 44888312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 44908001 44912000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 44912001 45047500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00207,LINC00229 chr2 24491789 24527924 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITSN2 chr22 44920000 48080000 Gain Acute lymphoblastic leukemia - 21339820 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FAM118A,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,LINC00207,LINC00229,LOC100271722,LOC100506714,LOC150381,LOC730668,MIR1249,MIR3619,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PHF21B,PKDREJ,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SMC1B,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 44925163 45018317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00207,LINC00229 chr22 44925163 45018317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00207,LINC00229 chr22 44927000 49560000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ARHGAP8,ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,LINC00207,LINC00229,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC730668,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PHF21B,PKDREJ,PPARA,PRR5,PRR5-ARHGAP8,RIBC2,SMC1B,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 44961656 44962126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44972672 44986189 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr22 44972977 44979738 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 44975462 45018495 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00229 chr22 44975462 45018495 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00229 chr22 44976693 44976793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 44982671 44982771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 44984424 45010422 Gain and loss Pancreatic cancer SNP array 17952125 LINC00229 chr2 24499155 24499292 Gain and loss Pancreatic cancer SNP array 17952125 ITSN2 chr22 45003759 45003839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00229 chr22 45012232 45012779 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LINC00229 chr22 45013331 45047225 Gain and loss Pancreatic cancer SNP array 17952125 LINC00229 chr22 45018572 45024857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00229 chr22 45018572 45024857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00229 chr22 45030224 45037916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 45030224 45037916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 45032853 45033196 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 45039250 45191270 Gain Normal Birdsuite, version 1.5.2 22087296 ARHGAP8,PRR5,PRR5-ARHGAP8 chr22 45042525 45068567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR5 chr22 45042525 45068567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR5 chr22 45047501 45072000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRR5 chr22 45052130 45073753 Gain and loss Pancreatic cancer SNP array 17952125 PRR5 chr22 45071476 45108257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR5,PRR5-ARHGAP8 chr22 45071476 45108257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR5,PRR5-ARHGAP8 chr22 45072001 45127500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRR5,PRR5-ARHGAP8 chr22 45077250 45253586 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP8,PRR5,PRR5-ARHGAP8 chr22 45078968 45096361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRR5 chr22 45109962 45131898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRR5,PRR5-ARHGAP8 chr22 45109962 45131898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRR5,PRR5-ARHGAP8 chr22 45123195 45123290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRR5,PRR5-ARHGAP8 chr22 45127501 45133000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRR5,PRR5-ARHGAP8 chr22 45130363 45130464 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRR5,PRR5-ARHGAP8 chr22 45133001 45361000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGAP8,PHF21B,PRR5,PRR5-ARHGAP8 chr22 45134397 45311731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45134397 45311731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr2 24513498 24520807 Loss Normal 244K array 17666407 ITSN2 chr22 45135394 45311731 Copy number Lung cancer - 20668451 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45135394 45311731 Gain or loss Breast cancer - 20668451 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45135394 45311731 Gain or loss Cancer - 20668451 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45135394 45311731 Gain or loss Lung cancer - 20668451 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45135394 45311731 Gain or loss Ovarian cancer - 20668451 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45135394 45311731 Gain or loss Pancreas cancer - 20668451 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45135394 45311731 Gain or loss Prostate cancer - 20668451 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45141842 45141936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRR5-ARHGAP8 chr22 45179685 45205105 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGAP8,PRR5-ARHGAP8 chr22 45187305 45615894 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-1172K arrays 21546498 ARHGAP8,KIAA0930,LOC100506714,MIR1249,NUP50,PHF21B,PRR5-ARHGAP8 chr22 45191249 45347372 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP8,PHF21B,PRR5-ARHGAP8 chr22 45202948 45203033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP8,PRR5-ARHGAP8 chr22 45255890 45256321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP8,PRR5-ARHGAP8 chr22 45343231 45396203 Gain and loss Pancreatic cancer SNP array 17952125 PHF21B chr22 45361001 45365000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF21B chr22 45365001 45369000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF21B chr22 45369001 45370500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF21B chr22 45370501 45384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF21B chr22 45380833 45381220 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PHF21B chr22 45384001 45411500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PHF21B chr22 45394963 45454352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PHF21B chr22 45400827 45454671 Gain and loss Pancreatic cancer SNP array 17952125 PHF21B chr22 45400935 45401035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHF21B chr22 45411501 45425500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 24542287 25182804 LOH Normal High-resolution SNP genotyping 21211785 ADCY3,CENPO,DNAJC27,ITSN2,NCOA1,PTRHD1 chr22 45425501 45455250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 45429880 45429980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 45455251 45500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 45458984 45512833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 45458984 45512833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 45468347 45468400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 45472116 45492061 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 45479048 45890248 Gain and loss Pancreatic cancer SNP array 17952125 FAM118A,KIAA0930,LOC100506714,MIR1249,NUP50,RIBC2,SMC1B,UPK3A chr22 45488286 49691432 Deletion Cancer Affymetrix 250K Sty array 20164920 ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,LOC100128946,LOC100271722,LOC100506714,LOC150381,LOC284933,LOC730668,MIR1249,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,NUP50,PKDREJ,PPARA,RIBC2,SMC1B,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 45490194 45517043 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr22 45500501 45531000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100506714 chr22 45531001 45788500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM118A,KIAA0930,LOC100506714,MIR1249,NUP50,SMC1B,UPK3A chr22 45537193 45948399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM118A,FBLN1,KIAA0930,LOC100506714,MIR1249,NUP50,RIBC2,SMC1B,UPK3A chr22 45537193 45948399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM118A,FBLN1,KIAA0930,LOC100506714,MIR1249,NUP50,RIBC2,SMC1B,UPK3A chr22 45569108 45598600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA0930,MIR1249,NUP50 chr22 45600000 49600000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FAM118A,FAM19A5,FBLN1,FLJ46257,GRAMD4,GTSE1,KIAA0930,LOC100128946,LOC100271722,LOC150381,LOC284933,LOC730668,MIR3201,MIR3619,MIR4535,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PKDREJ,PPARA,RIBC2,SMC1B,TBC1D22A,TRMU,TTC38,UPK3A,WNT7B chr22 45608153 45608231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0930 chr22 45622467 45622539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0930 chr22 45631760 45632293 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0930 chr2 24568305 24847075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITSN2,NCOA1 chr2 24568305 24847075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITSN2,NCOA1 chr22 45709833 45931039 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM118A,FBLN1,RIBC2,SMC1B chr22 45755686 45790655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMC1B chr22 45757954 45931039 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FBLN1,RIBC2,SMC1B chr22 45757954 45931039 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FBLN1,RIBC2,SMC1B chr22 45788501 45839000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RIBC2,SMC1B chr22 45832536 45833009 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 45838493 45838582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 45839001 45886500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 45885255 45897460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 45886501 45985000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBLN1 chr22 45891592 45931039 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FBLN1 chr22 45936969 45937116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBLN1 chr22 45964660 45967142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBLN1 chr22 45978362 45978452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBLN1 chr22 45979431 45979496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBLN1 chr22 45985001 46048500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBLN1 chr22 45991521 45991641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBLN1 chr22 45995401 47184500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN10,C22orf26,CDPF1,CELSR1,CERK,CN5H6.4,FBLN1,GRAMD4,GTSE1,LOC100271722,LOC150381,LOC730668,MIR3619,MIR4762,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PKDREJ,PPARA,TBC1D22A,TRMU,TTC38,WNT7B chr2 24600000 25900000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 ADCY3,CENPO,DNAJC27,DNAJC27-AS1,DNMT3A,DTNB,EFR3B,MIR1301,NCOA1,POMC,PTRHD1 chr22 46035233 46035304 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 46042947 46043036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 46048501 46079500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN10 chr22 46067771 46068238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATXN10 chr22 46075128 46075523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATXN10 chr22 46079501 46140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN10 chr22 46083983 46084125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATXN10 chr22 46096052 46131148 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATXN10 chr22 46140501 46151000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN10 chr22 46151001 46161500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN10,MIR4762 chr22 46160653 46160862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATXN10 chr22 46160694 46161951 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATXN10 chr22 46161501 46180500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN10 chr22 46180501 46380000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN10,WNT7B chr22 46235712 46261524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN10 chr22 46235712 46261524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN10 chr22 46237722 46237822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATXN10 chr2 2462570 2505575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 46263246 46263285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 46263567 46263630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 46265107 46336181 Gain Normal Birdsuite, version 1.5.2 22087296 WNT7B chr22 46354037 46354126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNT7B chr22 46362828 46362906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNT7B chr22 46363522 46444010 Gain Normal Birdsuite, version 1.5.2 22087296 LOC100271722,LOC730668,WNT7B chr22 46373956 46374031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 46380001 46406500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC730668 chr22 46395456 46405982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC730668 chr22 46395456 46405982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC730668 chr22 46397338 46397421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 46406501 46914000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C22orf26,CDPF1,CELSR1,CN5H6.4,GTSE1,LOC100271722,LOC150381,LOC730668,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PKDREJ,PPARA,TRMU,TTC38 chr2 24641003 24641111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 246416401 242951149 Deletion Glioma mate-paired sequence 20126413 chr22 46436903 46438016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100271722 chr22 46467265 46652642 Gain Normal Birdsuite, version 1.5.2 22087296 CDPF1,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PKDREJ,PPARA chr22 46483137 46483237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIRLET7BHG chr22 46511252 47047245 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDPF1,CELSR1,CN5H6.4,GRAMD4,GTSE1,PKDREJ,PPARA,TRMU,TTC38 chr22 46511252 47047245 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDPF1,CELSR1,CN5H6.4,GRAMD4,GTSE1,PKDREJ,PPARA,TRMU,TTC38 chr22 46520880 46520960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 46632478 46649430 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CDPF1,PPARA chr22 46660846 46693127 Gain Normal Birdsuite, version 1.5.2 22087296 CN5H6.4,GTSE1,TTC38 chr22 46683241 46683496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC38 chr22 46687066 46687147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC38 chr22 46692663 46692728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GTSE1 chr22 46699304 46742936 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GTSE1,TRMU chr22 46762263 46762317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELSR1 chr22 46833688 46833788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CELSR1 chr22 46845829 46847731 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CELSR1 chr22 46845829 46847731 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CELSR1 chr22 46845829 46850201 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CELSR1 chr22 46845829 46850201 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CELSR1 chr22 46847631 46850201 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CELSR1 chr22 46847631 46850201 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CELSR1 chr22 46914001 46932000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELSR1 chr2 246926 88684402 Loss Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AAK1,ABCG5,ABCG8,ABHD1,ACP1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1P1,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM136A,FAM150B,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC100630918,LOC150622,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3YL1,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr22 46932001 47073500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELSR1,GRAMD4 chr22 46934071 46934141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 46990349 46990382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 24699148 24699258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 24699150 24699258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 47000000 48200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CERK,FLJ46257,GRAMD4,TBC1D22A chr22 47000000 48200000 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 CERK,FLJ46257,GRAMD4,TBC1D22A chr22 47023875 47024192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRAMD4 chr22 47025401 47029100 Deletion Glioma mate-paired sequence 20126413 GRAMD4 chr22 47035604 47035696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRAMD4 chr22 47043248 47043336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRAMD4 chr22 47073501 47117500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CERK,GRAMD4 chr22 47094790 47094849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CERK chr22 47095130 47136752 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CERK chr22 47095130 47136752 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CERK chr22 47117501 47199000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CERK,TBC1D22A chr22 47167127 47167227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47184501 49691432 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5,FLJ46257,LOC100128946,LOC284933,MIR3201,MIR4535,TBC1D22A chr22 47189549 47189628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D22A chr2 24719055 24903036 Gain and loss Pancreatic cancer SNP array 17952125 NCOA1 chr22 47199001 47202500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D22A chr22 47202501 47269000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D22A chr22 47205812 47467498 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D22A chr22 47226294 47226389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47253752 47254081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D22A chr22 47259065 47259145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47263936 47533750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D22A chr22 47264123 47533723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D22A chr22 47264123 47533723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D22A chr22 47269001 47503000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D22A chr22 47270698 47270798 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D22A chr22 47273492 47324496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D22A chr22 47280004 47280104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47306046 47306145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47313376 47321863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D22A chr22 47334836 47334936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47348553 47348653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47354576 49468408 Amplification Acute myeloid leukemia - 21251322 FAM19A5,FLJ46257,LOC100128946,LOC284933,MIR3201,MIR4535,TBC1D22A chr22 47385024 47428552 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TBC1D22A chr22 47389593 47390019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D22A chr22 47392904 47392967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D22A chr22 47402868 47436397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TBC1D22A chr22 47450748 47450823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47464139 47464414 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D22A chr22 47465793 47475686 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TBC1D22A chr22 47465793 47475686 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TBC1D22A chr22 47503001 47518500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D22A chr22 47518501 47538500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D22A chr2 24752682 24752788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 47538501 47566500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D22A chr22 47548006 47548074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D22A chr22 47566501 47568500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D22A chr22 47580001 47590500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47590501 47674500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47604186 47604286 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 47628372 48087881 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ46257 chr22 47666869 47679098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 47666869 47679098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 47674501 47684500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47676346 47676446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 47676796 47676896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 47684501 47722000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47693073 47724947 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 47722001 47728000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47728001 47803000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47746428 47766320 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 47746428 47786086 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 47771620 47771652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 47772024 47787485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 47787392 47787488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 47803001 47808000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47808001 47860500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47860501 47863500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47863501 47930000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47930001 47935500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 47930693 47931005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 47935501 48077000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ46257 chr22 47995838 47996177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 47996150 47996250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48008516 48010301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48043204 48043304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48069330 48103911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 48074961 48075061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48077001 48089500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48084535 48084599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48089501 48150500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48095615 48099160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48096063 48098448 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr22 48097601 48103440 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr22 48097601 48103440 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr22 48101783 48103447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48105208 48105290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 24810829 24810935 Gain and loss Pancreatic cancer SNP array 17952125 NCOA1 chr22 48150501 48156000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48150594 48155017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48151135 48182474 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 48151268 48151368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48155616 48739918 LOH Normal High-resolution SNP genotyping 21211785 MIR3201 chr22 48156001 48327000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 24819254 24866786 Amplification Glioblastoma multiforme Array CGH 19115005 NCOA1 chr22 48194789 49691432 LOH Normal High-resolution SNP genotyping 21211785 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48200000 49691432 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48200000 49691432 Deletion Autism - 20643418 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48200000 49691432 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48200000 49691432 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48200000 49691432 Gain Normal Human genome CGH 78k ARRAY PLATFORM 22144094 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48200000 49691432 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48232861 49465770 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48237802 48237898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48248831 48252981 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 48251202 48301088 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 48263190 48270982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48264438 48264617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48273970 48274200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48279352 49465770 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48286253 48301088 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr22 48297377 49691432 LOH Normal High-resolution SNP genotyping 21211785 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48305246 48305311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48327001 48335500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48332418 48332642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48333445 48333822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48334151 48339429 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48344501 48351500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48351501 48396000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48385772 48385872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48390435 48423396 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 48396001 48428500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48399294 48437194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48399294 48437194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48406592 48528880 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr22 48409305 48409464 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48428501 48466000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 24844601 25578300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCY3,CENPO,DNAJC27,DNAJC27-AS1,DNMT3A,EFR3B,MIR1301,NCOA1,POMC,PTRHD1 chr22 48453196 48453433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48466001 48470000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48470001 48528000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 24848368 24882742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCOA1 chr22 48485305 48485405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48487793 48541685 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr22 48487793 48541685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48493297 49040520 LOH Normal High-resolution SNP genotyping 21211785 FAM19A5,LOC284933,MIR3201 chr22 48495143 48528627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 48495964 48496064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48508026 48508126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48518329 48518656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48518339 48518576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48528001 48565000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48528880 48837366 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 MIR3201 chr22 48537279 48538632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48552935 48607164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48552935 48607164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48562702 48562802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48565001 48707500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR3201 chr22 48568390 48602951 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr22 48568390 48602951 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48594603 49691432 Substitutions and indels small cell lung cancer array-CGH 20016488 FAM19A5,LOC100128946,LOC284933,MIR3201,MIR4535 chr22 48596900 48597364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48615279 48615379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48617727 48632940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48625581 48625742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48633205 48642045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48633494 48668094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48633494 48668094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48636278 48636469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 24866645 24869755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCOA1 chr2 24866645 24869755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOA1 chr22 48675457 48677465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 4868257 48698110 Copy number Autism exome sequencing 22495311 A4GALT,ACO2,ADORA2A,ADRBK2,ADSL,AIFM3,ANKRD54,ANKRD62P1-PARP4P3,AP1B1,AP1B1P1,APOBEC3A,APOBEC3A_B,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,APOL1,APOL2,APOL3,APOL4,APOL5,APOL6,ARFGAP3,ARHGAP8,ARVCF,ASCC2,ASPHD2,ATF4,ATP5L2,ATP6V1E1,ATXN10,BAIAP2L2,BCL2L13,BCR,BCRP2,BCRP3,BID,BIK,BPIFC,C1QTNF6,C22orf13,C22orf15,C22orf23,C22orf24,C22orf25,C22orf26,C22orf28,C22orf29,C22orf31,C22orf32,C22orf39,C22orf42,C22orf43,C22orf45,C22orf46,CABIN1,CABP7,CACNA1I,CACNG2,CARD10,CBX6,CBX7,CBY1,CCDC116,CCDC117,CCDC134,CCDC157,CCT8L2,CDC42EP1,CDC45,CDPF1,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CELSR1,CENPM,CERK,CES5AP1,CHADL,CHCHD10,CHEK2,CLDN5,CLTCL1,CN5H6.4,COMT,CRKL,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,CSDC2,CSF2RB,CSNK1E,CYB5R3,CYP2D6,CYP2D7P1,CYTH4,DDT,DDTL,DDX17,DEPDC5,DERL3,DESI1,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,DMC1,DNAJB7,DNAL4,DRG1,DUSP18,EFCAB6,EFCAB6-AS1,EIF3D,EIF3L,EIF4ENIF1,ELFN2,EMID1,ENTHD1,EP300,EWSR1,FAM109B,FAM118A,FAM211B,FAM227A,FAM83F,FBLN1,FBXO7,FBXW4P1,FLJ41941,FLJ46257,FOXRED2,GAB4,GAL3ST1,GALR3,GAS2L1,GATSL3,GCAT,GGA1,GGT1,GGT3P,GGT5,GGTLC2,GNAZ,GNB1L,GP1BB,GRAMD4,GRAP2,GSC2,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GTPBP1,GTSE1,GUSBP11,H1F0,HIC2,HIRA,HMGXB4,HMOX1,HORMAD2,HPS4,HSCB,HSFY1P1,IFT27,IGLL1,IGLL3P,IGLL5,IL17RA,IL2RB,INPP5J,ISX,JOSD1,KCNJ4,KCTD17,KDELR3,KIAA0930,KIAA1644,KIAA1656,KIAA1671,KLHL22,KREMEN1,L3MBTL2,LARGE,LDOC1L,LGALS1,LGALS2,LIF,LIMK2,LINC00207,LINC00229,LINC00634,LOC100128531,LOC100130899,LOC100132273,LOC100271722,LOC100506195,LOC100506241,LOC100506472,LOC100506714,LOC150185,LOC150197,LOC150381,LOC284865,LOC284889,LOC339666,LOC388849,LOC388906,LOC391322,LOC400891,LOC400927,LOC648691,LOC729444,LOC730668,LOC96610,LRP5L,LZTR1,MAFF,MAPK1,MB,MCAT,MCHR1,MCM5,MED15,MEI1,MFNG,MGAT3,MIAT,MICAL3,MICALL1,MIF,MIR1249,MIR1281,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3199-1,MIR3199-2,MIR3200,MIR3201,MIR33A,MIR3618,MIR3619,MIR3653,MIR3909,MIR3928,MIR4534,MIR4761,MIR4762,MIR4763,MIR4764,MIR4766,MIR548J,MIR648,MIR650,MIR658,MIR659,MIRLET7A3,MIRLET7B,MIRLET7BHG,MKL1,MMP11,MN1,MORC2,MORC2-AS1,MPPED1,MPST,MRPL40,MTFP1,MTMR3,MYH9,MYO18B,NAGA,NCF4,NDUFA6,NEFH,NF2,NFAM1,NHP2L1,NIPSNAP1,NOL12,NPTXR,NUP50,OR11H1,OSBP2,OSM,P2RX6,P2RX6P,PACSIN2,PARVB,PARVG,PATZ1,PDGFB,PDXP,PES1,PEX26,PHF21B,PHF5A,PI4KA,PI4KAP1,PI4KAP2,PICK1,PIK3IP1,PISD,PITPNB,PIWIL3,PKDREJ,PLA2G3,PLA2G6,PMM1,PNPLA3,PNPLA5,POLDIP3,POLR2F,POLR3H,POM121L10P,POM121L1P,POM121L4P,POM121L8P,POM121L9P,POTEH,PPARA,PPIL2,PPM1F,PRAME,PRODH,PRR14L,PRR5,PRR5-ARHGAP8,PVALB,RAB36,RAC2,RANBP1,RANGAP1,RASD2,RASL10A,RBFOX2,RBX1,RFPL1,RFPL1-AS1,RFPL2,RFPL3,RFPL3-AS1,RGL4,RHBDD3,RIBC2,RIMBP3,RIMBP3B,RIMBP3C,RNF185,RNF215,RNU12,RNU86,RPL3,RPS19BP1,RRP7A,RRP7B,RTDR1,RTN4R,SAMM50,SCARF2,SCUBE1,SDC4P,SDF2L1,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SELM,SEPT3,SEPT5,SEPT5-GP1BB,SERHL,SERHL2,SERPIND1,SEZ6L,SF3A1,SFI1,SGSM1,SGSM3,SH3BP1,SHISA8,SLC16A8,SLC25A1,SLC25A17,SLC25A18,SLC2A11,SLC35E4,SLC5A1,SLC5A4,SLC7A4,SMARCB1,SMC1B,SMCR7L,SMTN,SNAP29,SNORD125,SNORD43,SNORD83A,SNORD83B,SNRPD3,SOX10,SPECC1L,SREBF2,SRRD,SSTR3,ST13,SULT4A1,SUN2,SUSD2,SYN3,SYNGR1,TAB1,TBC1D10A,TBC1D22A,TBX1,TCF20,TCN2,TEF,TEX33,TFIP11,THAP7,THAP7-AS1,THOC5,TIMP3,TMEM184B,TMEM191A,TMEM191B,TMEM191C,TMEM211,TMPRSS6,TNFRSF13C,TNRC6B,TOB2,TOM1,TOMM22,TOP1P2,TOP3B,TPST2,TPTEP1,TRIOBP,TRMT2A,TRMU,TSPO,TSSK2,TST,TTC28,TTC28-AS1,TTC38,TTLL1,TTLL12,TUBA3FP,TUBA8,TUG1,TXN2,TXNRD2,UBE2L3,UFD1L,UPB1,UPK3A,UQCR10,USP18,VPREB1,VPREB3,WBP2NL,WNT7B,XBP1,XKR3,XPNPEP3,XRCC6,YDJC,YPEL1,YWHAH,ZC3H7B,ZDHHC8,ZDHHC8P1,ZMAT5,ZNF280A,ZNF280B,ZNF70,ZNF74,ZNRF3,ZNRF3-AS1 chr22 48682862 48698110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48682862 48698110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24869518 24898749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCOA1 chr2 24869518 24898749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOA1 chr22 48698287 48707192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48698287 48707192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48707501 48758750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48718325 48718414 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48718329 48718418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48735399 48753545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48740165 48743721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48740165 48743721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48758751 48773500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48771521 48797812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48773501 48782500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48775069 48793215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48775069 48793215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48782501 48792500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48792501 48798000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48795679 48835873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48795679 48835873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48798001 48810500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48800277 48826491 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr22 48805710 48805810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48806852 48806961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48810501 48817000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48814623 49204003 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 FAM19A5,LOC284933,MIR4535 chr22 48817001 48865500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 48830951 48902572 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A5 chr22 48833840 49524956 Deletion Autism Illumina HumanHap563 BeadChip 20858243 FAM19A5,LOC100128946,LOC284933,MIR4535 chr22 48839947 48866477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48839947 48866477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 48840211 48840295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 48855658 48855721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 48857474 48858002 Loss Normal 244K array 17666407 NOT_FOUND chr22 48865501 48926500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5 chr22 48870610 48942246 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5,LOC284933 chr22 48870610 48942246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5,LOC284933 chr22 48891777 48891872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A5 chr22 48900002 48920735 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 FAM19A5 chr22 48911647 48921176 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A5 chr22 48926501 48932000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5 chr22 48926817 48940484 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A5,LOC284933 chr22 48927732 48928067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A5 chr22 48927754 48928137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A5 chr22 48930979 49068912 Gain Stenocardia MACArray Karyo 95K BAC-chips 21860640 FAM19A5,LOC284933 chr22 48930979 49068912 Gain Vasospasm MACArray Karyo 95K BAC-chips 21860640 FAM19A5,LOC284933 chr22 48932001 48934000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5 chr22 48934001 48942000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5,LOC284933 chr22 48941865 48958501 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A5,LOC284933 chr22 48942001 48997000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5,LOC284933 chr2 24895001 24955500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NCOA1 chr22 48951287 48960850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 48951287 48960850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr2 24895545 24995559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NCOA1 chr2 24895545 24995559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCOA1 chr22 48958580 48985450 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A5 chr22 48966471 48980154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 48966471 48980154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 48970247 48970304 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 FAM19A5 chr22 48970408 48970476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A5 chr22 48981535 48998172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 48981535 48998172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 48997001 49003500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5 chr22 48998245 49025527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 48998245 49025527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49000786 49565875 Gain Urothelial carcinoma array CGH validated by FISH 21177765 FAM19A5,LOC100128946,MIR4535 chr22 49003501 49025000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5 chr22 49006133 49006192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A5 chr22 49011897 49011981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A5 chr22 49018090 49522492 Loss Developmental delay affymetrix genechip 500K/SNP 6.91 array 21147756 FAM19A5,LOC100128946,MIR4535 chr22 49025001 49101000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5 chr22 49025268 49025368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A5 chr22 49025742 49031941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49025742 49031941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49030618 49042216 Gain or loss Breast cancer - 20668451 FAM19A5 chr22 49030618 49042216 Gain or loss Cancer - 20668451 FAM19A5 chr22 49030618 49042216 Gain or loss Lung cancer - 20668451 FAM19A5 chr22 49030618 49042216 Gain or loss Ovarian cancer - 20668451 FAM19A5 chr22 49030618 49042216 Gain or loss Pancreas cancer - 20668451 FAM19A5 chr22 49030618 49042216 Gain or loss Prostate cancer - 20668451 FAM19A5 chr22 49031325 49031389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A5 chr22 49033458 49042216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49033458 49042216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr2 24904201 24908200 Deletion Glioma mate-paired sequence 20126413 NCOA1 chr22 49044268 49051467 Gain or loss Breast cancer - 20668451 FAM19A5 chr22 49044268 49051467 Gain or loss Cancer - 20668451 FAM19A5 chr22 49044268 49051467 Gain or loss Lung cancer - 20668451 FAM19A5 chr22 49044268 49051467 Gain or loss Ovarian cancer - 20668451 FAM19A5 chr22 49044268 49051467 Gain or loss Pancreas cancer - 20668451 FAM19A5 chr22 49044268 49051467 Gain or loss Prostate cancer - 20668451 FAM19A5 chr22 49044271 49050949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49044271 49050949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49055534 49075334 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 FAM19A5 chr22 49055535 49075336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49055535 49075336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49058195 49209172 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FAM19A5,MIR4535 chr2 24906043 24906659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCOA1 chr22 49092965 49100030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49092965 49100030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5 chr22 49101001 49132000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM19A5 chr22 49115168 49115259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A5 chr22 49120366 49165456 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A5 chr22 49128599 49230380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5,MIR4535 chr22 49128599 49230380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A5,MIR4535 chr22 49129839 49130879 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 FAM19A5 chr22 49147548 49147626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A5 chr22 49156505 49156789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49156505 49156791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49166530 49166727 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 49166545 49166764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 49177501 49207500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49204084 49237988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr22 49207501 49209000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49211838 49519949 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 LOC100128946 chr22 49216501 49233500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49219663 49307552 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC100128946 chr22 49232050 49260330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49232050 49260330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49233501 49239000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49239001 49275500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100128946 chr22 49246176 49313898 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 LOC100128946 chr22 49246176 49349366 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 LOC100128946 chr2 24924931 24927828 Gain and loss Pancreatic cancer SNP array 17952125 NCOA1 chr22 49253975 49254049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 49265595 49265865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49265596 49265806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49266878 49271732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49266878 49271732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49272079 49275943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49272079 49275943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49275501 49288000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100128946 chr2 24927984 24954435 Gain and loss Pancreatic cancer SNP array 17952125 NCOA1 chr22 49280813 49465770 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC100128946 chr22 49288001 49293000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100128946 chr22 49288244 49292987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49288244 49292987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49289278 49289310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100128946 chr22 49289364 49289627 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 LOC100128946 chr22 49293001 49302500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100128946 chr22 49293538 49308767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49293538 49308767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128946 chr22 49294763 49303950 Loss Normal 244K array 17666407 NOT_FOUND chr22 49296647 49297002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 49302501 49318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49308865 49310900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49308865 49310900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49311047 49315327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49311047 49315327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49313887 49320607 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr22 49315704 49317874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49315704 49317874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49318001 49410000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49322695 49323470 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr22 49333227 49333298 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr22 49333328 49335409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49333328 49335409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49336407 49348200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24934596 25795713 Deletion small cell lung cancer array-CGH 20016488 ADCY3,CENPO,DNAJC27,DNAJC27-AS1,DNMT3A,DTNB,EFR3B,MIR1301,NCOA1,POMC,PTRHD1 chr22 49354155 49368260 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr22 49354156 49368260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49354156 49368260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24935607 25791963 Substitutions and indels small cell lung cancer array-CGH 20016488 ADCY3,CENPO,DNAJC27,DNAJC27-AS1,DNMT3A,DTNB,EFR3B,MIR1301,NCOA1,POMC,PTRHD1 chr22 49359286 49359386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 49364253 49368260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49364253 49368260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49368321 49369032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49369822 49369917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 24938411 25188364 Copy number Lung cancer paired-end sequencing 18438408 ADCY3,CENPO,DNAJC27,NCOA1,PTRHD1 chr22 49385980 49396845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49385980 49396845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49385996 49396845 Gain or loss Breast cancer - 20668451 NOT_FOUND chr22 49385996 49396845 Gain or loss Cancer - 20668451 NOT_FOUND chr22 49385996 49396845 Gain or loss Lung cancer - 20668451 NOT_FOUND chr22 49385996 49396845 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr22 49385996 49396845 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr22 49385996 49396845 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr22 49392382 49434548 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 49392382 49470169 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 49392382 49495206 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 49400000 51304566 Deletion Adenoid cystic carcinoma Array CGH 18698036 ACR,ADM2,ALG12,ARSA,BRD1,C22orf34,CHKB,CHKB-CPT1B,CPT1B,CRELD2,FAM116B,HDAC10,IL17REL,KLHDC7B,LMF2,LOC100144603,LOC90834,MAPK11,MAPK12,MAPK8IP2,MIOX,MLC1,MOV10L1,NCAPH2,ODF3B,PANX2,PIM3,PLXNB2,PPP6R2,RABL2B,RPL23AP82,SBF1,SCO2,SELO,SHANK3,SYCE3,TRABD,TUBGCP6,TYMP,ZBED4 chr22 49400000 51304566 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACR,ADM2,ALG12,ARSA,BRD1,C22orf34,CHKB,CHKB-CPT1B,CPT1B,CRELD2,FAM116B,HDAC10,IL17REL,KLHDC7B,LMF2,LOC100144603,LOC90834,MAPK11,MAPK12,MAPK8IP2,MIOX,MLC1,MOV10L1,NCAPH2,ODF3B,PANX2,PIM3,PLXNB2,PPP6R2,RABL2B,RPL23AP82,SBF1,SCO2,SELO,SHANK3,SYCE3,TRABD,TUBGCP6,TYMP,ZBED4 chr22 49400000 51304566 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 ACR,ADM2,ALG12,ARSA,BRD1,C22orf34,CHKB,CHKB-CPT1B,CPT1B,CRELD2,FAM116B,HDAC10,IL17REL,KLHDC7B,LMF2,LOC100144603,LOC90834,MAPK11,MAPK12,MAPK8IP2,MIOX,MLC1,MOV10L1,NCAPH2,ODF3B,PANX2,PIM3,PLXNB2,PPP6R2,RABL2B,RPL23AP82,SBF1,SCO2,SELO,SHANK3,SYCE3,TRABD,TUBGCP6,TYMP,ZBED4 chr22 49400000 51304566 Gain Salivary gland adenoid cystic carcinoma Genome-wide scanning BAC array 17545515 ACR,ADM2,ALG12,ARSA,BRD1,C22orf34,CHKB,CHKB-CPT1B,CPT1B,CRELD2,FAM116B,HDAC10,IL17REL,KLHDC7B,LMF2,LOC100144603,LOC90834,MAPK11,MAPK12,MAPK8IP2,MIOX,MLC1,MOV10L1,NCAPH2,ODF3B,PANX2,PIM3,PLXNB2,PPP6R2,RABL2B,RPL23AP82,SBF1,SCO2,SELO,SHANK3,SYCE3,TRABD,TUBGCP6,TYMP,ZBED4 chr22 49400000 51304566 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ACR,ADM2,ALG12,ARSA,BRD1,C22orf34,CHKB,CHKB-CPT1B,CPT1B,CRELD2,FAM116B,HDAC10,IL17REL,KLHDC7B,LMF2,LOC100144603,LOC90834,MAPK11,MAPK12,MAPK8IP2,MIOX,MLC1,MOV10L1,NCAPH2,ODF3B,PANX2,PIM3,PLXNB2,PPP6R2,RABL2B,RPL23AP82,SBF1,SCO2,SELO,SHANK3,SYCE3,TRABD,TUBGCP6,TYMP,ZBED4 chr22 49400000 51304566 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ACR,ADM2,ALG12,ARSA,BRD1,C22orf34,CHKB,CHKB-CPT1B,CPT1B,CRELD2,FAM116B,HDAC10,IL17REL,KLHDC7B,LMF2,LOC100144603,LOC90834,MAPK11,MAPK12,MAPK8IP2,MIOX,MLC1,MOV10L1,NCAPH2,ODF3B,PANX2,PIM3,PLXNB2,PPP6R2,RABL2B,RPL23AP82,SBF1,SCO2,SELO,SHANK3,SYCE3,TRABD,TUBGCP6,TYMP,ZBED4 chr22 49410001 49414000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49410316 49413473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49410316 49413473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49425352 49425450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 49425457 49425514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 49425457 49425557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 49426501 49428000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49443563 49691432 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr22 49446298 49581322 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr22 49451753 49495206 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr22 49452422 49567307 Gain Autism qPCR, MLPA 20531469 NOT_FOUND chr22 49455098 49455195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49456501 49518000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49456858 49524956 Deletion Autism quantitative PCR 19404257 NOT_FOUND chr22 49459935 49518507 Copy number Autism - 20643418 NOT_FOUND chr22 49459935 49518507 Copy number Autism References 20844286 NOT_FOUND chr22 49459935 49518507 Deletion Autism - 20652563 NOT_FOUND chr22 49459936 49518507 Copy number Autism exome sequencing 22495311 NOT_FOUND chr22 49459936 49518507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49459936 49518507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49466898 49467073 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr22 49476554 49476657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49493686 49549855 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 NOT_FOUND chr22 49504720 49504820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 49511000 49534000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr22 49518001 49691432 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr22 49523518 49530590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24953692 25053654 Gain and loss Pancreatic cancer SNP array 17952125 ADCY3,CENPO,NCOA1,PTRHD1 chr22 49539962 49540727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49542380 49584800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49542380 49584800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49552786 49568957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr22 49552786 49568957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 24955501 25278000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCY3,CENPO,DNAJC27,DNAJC27-AS1,EFR3B,NCOA1,PTRHD1 chr22 49569022 49584930 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr22 49661212 49661312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 49680423 49680512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 24968961 25013325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NCOA1,PTRHD1 chr2 24976054 24976154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCOA1 chr22 49847694 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 49966993 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 49993011 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50067838 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50141631 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50183194 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 25020009 25048435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY3,CENPO chr2 25020009 25048435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY3,CENPO chr22 50273173 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 25036343 25069455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADCY3,CENPO chr2 25045331 25045597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY3 chr2 25045761 25045850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY3 chr22 50550000 51190000 Gain Breast cancer aCGH 21509527 ACR,ADM2,ARSA,CHKB,CHKB-CPT1B,CPT1B,FAM116B,HDAC10,KLHDC7B,LMF2,LOC100144603,MAPK11,MAPK12,MAPK8IP2,MIOX,MOV10L1,NCAPH2,ODF3B,PANX2,PLXNB2,PPP6R2,SBF1,SCO2,SELO,SHANK3,SYCE3,TRABD,TUBGCP6,TYMP chr2 25056172 25570101 Deletion Normal - 21586113 ADCY3,DNAJC27,DNAJC27-AS1,DNMT3A,EFR3B,MIR1301,POMC chr22 50582663 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50584478 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50623583 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50637569 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 25067613 25067708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY3 chr22 50684808 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50733412 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 25078156 25106475 Gain and loss Pancreatic cancer SNP array 17952125 ADCY3 chr2 25081125 25081439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADCY3 chr22 50837800 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 25085218 25085319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY3 chr22 50911680 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50943072 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr22 50983531 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 25103907 25103997 Gain and loss Pancreatic cancer SNP array 17952125 ADCY3 chr2 25103908 25103997 Gain and loss Pancreatic cancer SNP array 17952125 ADCY3 chr22 51113069 51171641 Copy number Autism ref 20964600 SHANK3 chr22 51127208 49691432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr2 25118503 25231747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY3,DNAJC27,DNAJC27-AS1 chr2 25118503 25231747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY3,DNAJC27,DNAJC27-AS1 chr2 25134405 25134700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY3 chr2 25134406 25134702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY3 chr2 25143367 25143466 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 25148155 25152249 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 25156274 25158062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 25176650 25289894 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC27,DNAJC27-AS1,EFR3B chr2 25192553 25192849 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC27 chr2 25198855 25520467 Loss Normal 244K array 17666407 DNAJC27-AS1,DNMT3A,EFR3B,POMC chr2 25201193 25225839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAJC27-AS1 chr2 2520283 2520366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 25203781 26915754 Copy number Lung cancer paired-end sequencing 18438408 ASXL2,C2orf70,CCDC164,CIB4,DNAJC27-AS1,DNMT3A,DTNB,EFR3B,EPT1,FAM59B,GPR113,HADHA,HADHB,KCNK3,KIF3C,MIR1301,OTOF,POMC,RAB10 chr2 25237226 25245276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC27-AS1 chr2 25237226 25245276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC27-AS1 chr2 25250000 25460000 Loss Acute lymphoblastic leukemia - 21339820 DNAJC27-AS1,DNMT3A,EFR3B,POMC chr2 25266356 25266456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFR3B chr2 25267749 25267836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFR3B chr2 25278001 25458000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNMT3A,EFR3B,POMC chr2 25295439 25303103 Gain and loss Pancreatic cancer SNP array 17952125 EFR3B chr2 2530077 2530150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 25309348 25418963 Copy number Lung cancer - 20668451 EFR3B,POMC chr2 25309348 25418963 Gain or loss Breast cancer - 20668451 EFR3B,POMC chr2 25309348 25418963 Gain or loss Cancer - 20668451 EFR3B,POMC chr2 25309348 25418963 Gain or loss Lung cancer - 20668451 EFR3B,POMC chr2 25309348 25418963 Gain or loss Ovarian cancer - 20668451 EFR3B,POMC chr2 25309348 25418963 Gain or loss Pancreas cancer - 20668451 EFR3B,POMC chr2 25309348 25418963 Gain or loss Prostate cancer - 20668451 EFR3B,POMC chr2 25309350 25418963 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFR3B,POMC chr2 25309350 25418963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFR3B,POMC chr2 25312050 26013444 Deletion Normal - 21586113 ASXL2,DNMT3A,DTNB,EFR3B,MIR1301,POMC chr2 25347012 31515961 Gain Prostate cancer Array CGH 18632612 ABHD1,AGBL5,ALK,ASXL2,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CGREF1,CIB4,CLIP4,DNAJC5G,DNMT3A,DPYSL5,DTNB,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM59B,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,KCNK3,KHK,KIF3C,KRTCAP3,LBH,LCLAT1,LOC100505624,LOC100505716,MAPRE3,MIR1301,MIR4263,MPV17,MRPL33,NRBP1,OST4,OTOF,PLB1,POMC,PPM1G,PPP1CB,PREB,RAB10,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPDYA,SUPT7L,TCF23,TMEM214,TRIM54,TRMT61B,UCN,WDR43,YPEL5,ZNF512,ZNF513 chr2 25367497 25477110 Gain and loss Pancreatic cancer SNP array 17952125 DNMT3A,EFR3B,POMC chr2 25383532 25486913 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNMT3A,POMC chr2 2539764 2539942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 2539932 2540192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 25405013 25405094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 25446322 25446689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 25453616 25750007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNMT3A,DTNB,MIR1301 chr2 25453616 25750007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT3A,DTNB,MIR1301 chr2 254854 255004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3YL1 chr2 254871 268282 Gain or loss Breast cancer - 20668451 ACP1,SH3YL1 chr2 254871 268282 Gain or loss Cancer - 20668451 ACP1,SH3YL1 chr2 254871 268282 Gain or loss Lung cancer - 20668451 ACP1,SH3YL1 chr2 254871 268282 Gain or loss Ovarian cancer - 20668451 ACP1,SH3YL1 chr2 254871 268282 Gain or loss Pancreas cancer - 20668451 ACP1,SH3YL1 chr2 254871 268282 Gain or loss Prostate cancer - 20668451 ACP1,SH3YL1 chr2 254896 268278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACP1,SH3YL1 chr2 254896 268278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACP1,SH3YL1 chr2 254896 268280 Gain and loss Pancreatic cancer SNP array 17952125 ACP1,SH3YL1 chr2 25491218 25491519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNMT3A chr2 25504469 25504836 Gain and loss Pancreatic cancer SNP array 17952125 DNMT3A chr2 25511765 25808158 Gain and loss Pancreatic cancer SNP array 17952125 DNMT3A,DTNB,MIR1301 chr2 25526617 26098274 LOH Normal High-resolution SNP genotyping 21211785 ASXL2,DNMT3A,DTNB,MIR1301 chr2 2553001 2554500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 25539033 25540761 Gain Normal 244K array 17666407 DNMT3A chr2 2554501 2618000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 2555958 2555958 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 25574537 26807319 Loss Normal 244K array 17666407 ASXL2,C2orf70,CCDC164,CIB4,DTNB,EPT1,FAM59B,GPR113,HADHA,HADHB,KIF3C,OTOF,RAB10 chr2 25596040 25596104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 25611001 25613000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DTNB chr2 25616100 25712348 Amplification Glioblastoma multiforme Array CGH 19115005 DTNB chr2 25657039 25657256 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DTNB chr2 25684416 25684516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTNB chr2 25729243 26560205 LOH Normal High-resolution SNP genotyping 21211785 ASXL2,DTNB,FAM59B,GPR113,HADHA,HADHB,KIF3C,RAB10 chr2 2573312 2573357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 25773449 25773561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTNB chr2 25797363 34546911 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD1,AGBL5,ALK,ASXL2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CGREF1,CIB4,CLIP4,DNAJC5G,DPY30,DPYSL5,DTNB,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM59B,FAM98A,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,KCNK3,KHK,KIF3C,KRTCAP3,LBH,LCLAT1,LINC00486,LOC100271832,LOC100505624,LOC100505716,LTBP1,MAPRE3,MEMO1,MIR4263,MIR4765,MIR558,MPV17,MRPL33,MYADML,NLRC4,NRBP1,OST4,OTOF,PLB1,PPM1G,PPP1CB,PREB,RAB10,RASGRP3,RBKS,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPAST,SPDYA,SRD5A2,SUPT7L,TCF23,TMEM214,TRIM54,TRMT61B,TTC27,UCN,WDR43,XDH,YIPF4,YPEL5,ZNF512,ZNF513 chr2 25798097 25798197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DTNB chr2 25798565 25798669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTNB chr2 25814065 25954839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DTNB chr2 25814065 25954839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTNB chr2 25831598 25831708 Gain and loss Pancreatic cancer SNP array 17952125 DTNB chr2 25831599 25831708 Gain and loss Pancreatic cancer SNP array 17952125 DTNB chr2 25845393 25845582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTNB chr2 25872212 26013036 Gain and loss Pancreatic cancer SNP array 17952125 ASXL2,DTNB chr2 25886298 25887029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DTNB chr2 25898842 25899323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 25903540 25903727 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 25903541 25903596 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 25932834 25933339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 25963337 25963579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASXL2 chr2 26002959 26059122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASXL2 chr2 26002959 26059122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASXL2 chr2 26014486 26014586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASXL2 chr2 26061119 26117054 Gain and loss Pancreatic cancer SNP array 17952125 ASXL2 chr2 26071167 26071454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASXL2 chr2 26110478 26213782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF3C chr2 26110478 26213782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF3C chr2 26119048 26119154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 2613313 2613413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr22 61374609 61391587 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 NOT_FOUND chr2 26162725 26163132 Gain and loss Pancreatic cancer SNP array 17952125 KIF3C chr2 26168630 26271973 Gain and loss Pancreatic cancer SNP array 17952125 KIF3C,RAB10 chr2 26177195 26177299 Gain and loss Pancreatic cancer SNP array 17952125 KIF3C chr2 26177195 26177301 Gain and loss Pancreatic cancer SNP array 17952125 KIF3C chr2 2618001 2862500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 26184700 27484700 Gain Prostate cancer Array CGH 18632612 ABHD1,AGBL5,ATRAID,C2orf18,C2orf53,C2orf70,CAD,CCDC164,CENPA,CGREF1,CIB4,DPYSL5,EMILIN1,EPT1,FAM59B,GPR113,HADHA,HADHB,KCNK3,KHK,KIF3C,MAPRE3,OST4,OTOF,PREB,RAB10,SLC30A3,SLC5A6,TCF23,TMEM214 chr2 26216636 26217637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 26225577 26227104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 26229579 26232360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 26229597 26232378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 26236396 26237509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 26238429 26238927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 26248501 26265500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAB10 chr2 26249464 26266017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB10 chr2 26249464 26266017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB10 chr2 26267009 26321098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB10 chr2 26267009 26321098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB10 chr2 26283724 26285251 Gain and loss Pancreatic cancer SNP array 17952125 RAB10 chr2 26312360 26357295 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB10 chr2 26315236 26324164 Gain and loss Pancreatic cancer SNP array 17952125 RAB10 chr2 26321120 26366836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB10 chr2 26321120 26366836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB10 chr2 26325160 26379140 Gain and loss Pancreatic cancer SNP array 17952125 RAB10 chr2 2633044 2633313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 26347119 26347219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB10 chr2 26379434 26424983 Gain and loss Pancreatic cancer SNP array 17952125 FAM59B,HADHA chr2 26384545 26423189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM59B,HADHA chr2 26384545 26423189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM59B,HADHA chr2 26422458 26472263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HADHA,HADHB chr2 26422458 26472263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HADHA,HADHB chr2 26427809 26427928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HADHA chr2 26444303 26453568 Gain and loss Pancreatic cancer SNP array 17952125 HADHA chr2 2644684 2644746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 26457904 26464633 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HADHA chr2 26459021 26474005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HADHA,HADHB chr2 26463250 29386296 Loss Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 ABHD1,AGBL5,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf53,C2orf70,C2orf71,CAD,CCDC121,CCDC164,CENPA,CGREF1,CIB4,CLIP4,DNAJC5G,DPYSL5,EIF2B4,EMILIN1,EPT1,FAM179A,FNDC4,FOSL2,FTH1P3,GCKR,GPN1,GPR113,GTF3C2,HADHA,HADHB,IFT172,KCNK3,KHK,KRTCAP3,LOC100505624,LOC100505716,MAPRE3,MIR4263,MPV17,MRPL33,NRBP1,OST4,OTOF,PLB1,PPM1G,PPP1CB,PREB,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPDYA,SUPT7L,TCF23,TMEM214,TRIM54,TRMT61B,UCN,WDR43,ZNF512,ZNF513 chr2 26463680 26463755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HADHA chr2 26471010 28186645 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf53,C2orf70,CAD,CCDC121,CCDC164,CENPA,CGREF1,CIB4,DNAJC5G,DPYSL5,EIF2B4,EMILIN1,EPT1,FNDC4,FTH1P3,GCKR,GPN1,GPR113,GTF3C2,HADHB,IFT172,KCNK3,KHK,KRTCAP3,LOC100505624,MAPRE3,MPV17,MRPL33,NRBP1,OST4,OTOF,PPM1G,PREB,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TRIM54,UCN,ZNF512,ZNF513 chr2 26475543 26495062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HADHB chr2 2647800 2647900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 26478288 26533082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR113,HADHB chr2 26478288 26533082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR113,HADHB chr2 26480633 26530402 Gain and loss Pancreatic cancer SNP array 17952125 HADHB chr2 2648785 2648878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 26525001 26820500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf70,CCDC164,CIB4,EPT1,GPR113,OTOF chr2 26533575 26635070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC164,EPT1,GPR113 chr2 26533575 26635070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC164,EPT1,GPR113 chr2 26536435 26591229 Gain and loss Pancreatic cancer SNP array 17952125 EPT1,GPR113 chr2 26536882 26538135 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GPR113 chr2 26537456 26537556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR113 chr2 26539701 26818000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf70,CCDC164,CIB4,EPT1,GPR113,OTOF chr2 2658980 2672694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 26591723 26693217 Gain and loss Pancreatic cancer SNP array 17952125 CCDC164,EPT1,OTOF chr2 26623670 26623899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 26638957 26655904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC164 chr2 26657577 26717715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC164,OTOF chr2 26657577 26717715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC164,OTOF chr2 26697132 26714048 Gain and loss Pancreatic cancer SNP array 17952125 OTOF chr2 26715785 26715880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTOF chr2 26715882 26775833 Gain and loss Pancreatic cancer SNP array 17952125 OTOF chr2 26747051 26748535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OTOF chr2 26752537 26752632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTOF chr2 26754591 26754882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OTOF chr2 26763095 26763195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OTOF chr2 26765683 26807530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2orf70,CIB4,OTOF chr2 26769123 26806207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf70,CIB4,OTOF chr2 26769123 26806207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf70,CIB4,OTOF chr2 26820501 27022000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf18,CENPA,CIB4,KCNK3 chr2 26827270 26864354 Gain and loss Pancreatic cancer SNP array 17952125 CIB4 chr2 26831131 26858258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CIB4 chr2 26840646 26857603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIB4 chr2 26840646 26857603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIB4 chr2 26862386 26870961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIB4 chr2 26862386 26870961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIB4 chr2 26863004 26887150 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CIB4 chr2 26884802 27584382 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,C2orf18,C2orf53,CAD,CENPA,CGREF1,DNAJC5G,DPYSL5,EMILIN1,GTF3C2,KCNK3,KHK,LOC100505624,MAPRE3,MPV17,OST4,PREB,SLC30A3,SLC5A6,TCF23,TMEM214,TRIM54,UCN chr2 26894809 26894947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 26898803 26935583 Gain and loss Pancreatic cancer SNP array 17952125 KCNK3 chr2 26903541 26903892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 26920570 28049819 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,C2orf16,C2orf18,C2orf53,CAD,CCDC121,CENPA,CGREF1,DNAJC5G,DPYSL5,EIF2B4,EMILIN1,FNDC4,FTH1P3,GCKR,GPN1,GTF3C2,IFT172,KCNK3,KHK,KRTCAP3,LOC100505624,MAPRE3,MPV17,MRPL33,NRBP1,OST4,PPM1G,PREB,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TRIM54,UCN,ZNF512,ZNF513 chr2 26924467 27024572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf18,CENPA,KCNK3 chr2 26924467 27024572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf18,CENPA,KCNK3 chr2 26931258 27301524 Copy number Lung cancer paired-end sequencing 18438408 AGBL5,C2orf18,CENPA,DPYSL5,EMILIN1,KCNK3,MAPRE3,OST4,TMEM214 chr2 26934547 26934647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNK3 chr2 26941701 27090984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf18,CENPA,DPYSL5,KCNK3 chr2 26946175 26946275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNK3 chr2 26953527 28383162 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf53,CAD,CCDC121,CENPA,CGREF1,DNAJC5G,DPYSL5,EIF2B4,EMILIN1,FNDC4,FTH1P3,GCKR,GPN1,GTF3C2,IFT172,KCNK3,KHK,KRTCAP3,LOC100505624,MAPRE3,MIR4263,MPV17,MRPL33,NRBP1,OST4,PPM1G,PREB,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TRIM54,UCN,ZNF512,ZNF513 chr2 26953527 28388885 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf53,CAD,CCDC121,CENPA,CGREF1,DNAJC5G,DPYSL5,EIF2B4,EMILIN1,FNDC4,FTH1P3,GCKR,GPN1,GTF3C2,IFT172,KCNK3,KHK,KRTCAP3,LOC100505624,MAPRE3,MIR4263,MPV17,MRPL33,NRBP1,OST4,PPM1G,PREB,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TRIM54,UCN,ZNF512,ZNF513 chr2 269565 278296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACP1 chr2 269565 278296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACP1 chr2 269576 278182 Gain and loss Pancreatic cancer SNP array 17952125 ACP1 chr2 26960384 28154431 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf53,CAD,CCDC121,CENPA,CGREF1,DNAJC5G,DPYSL5,EIF2B4,EMILIN1,FNDC4,FTH1P3,GCKR,GPN1,GTF3C2,IFT172,KHK,KRTCAP3,LOC100505624,MAPRE3,MPV17,MRPL33,NRBP1,OST4,PPM1G,PREB,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TRIM54,UCN,ZNF512,ZNF513 chr2 26961718 26962039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 26982616 27082719 Gain and loss Pancreatic cancer SNP array 17952125 C2orf18,CENPA,DPYSL5 chr2 27022001 27025000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 27025001 27155500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPYSL5 chr2 27034703 27034803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 27047029 27103590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 27047029 27103590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 2705176 2705655 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 2705378 2705685 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 27080844 27080921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYSL5 chr2 27088238 27088589 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DPYSL5 chr2 27100000 62435964 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABCG5,ABCG8,ABHD1,ACYP2,AGBL5,AHSA2,ALK,ARHGEF33,ASB3,ATL2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BRE,BRE-AS1,C2orf16,C2orf53,C2orf56,C2orf61,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC75,CCDC85A,CCDC88A,CCT4,CDC42EP3,CDKL4,CEBPZ,CGREF1,CHAC2,CLHC1,CLIP4,COMMD1,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DNAJC5G,DPY30,DPYSL5,DYNC2LI1,EFEMP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,ERLEC1,FAM161A,FAM179A,FAM82A1,FAM98A,FANCL,FBXO11,FEZ2,FLJ16341,FLJ30838,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GEMIN6,GPN1,GPR75,GPR75-ASB3,GTF2A1L,GTF3C2,HAAO,HEATR5B,HNRPLL,IFT172,KCNG3,KCNK12,KHK,KIAA1841,KRTCAP3,LBH,LCLAT1,LHCGR,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC339803,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MAPRE3,MCFD2,MEMO1,MIR216A,MIR216B,MIR217,MIR3682,MIR4263,MIR4426,MIR4432,MIR4765,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSH2,MSH6,MTA3,MTIF2,MYADML,NLRC4,NRBP1,NRXN1,OST4,OXER1,PAPOLG,PEX13,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,PPM1B,PPM1G,PPP1CB,PPP1R21,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PUS10,QPCT,RASGRP3,RBKS,REL,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMEK2,SNORA70B,SNORD53,SNORD92,SNX17,SOCS5,SOS1,SPAST,SPDYA,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TCF23,THADA,THUMPD2,TMEM178A,TMEM214,TMEM247,TRIM54,TRMT61B,TSPYL6,TTC27,TTC7A,UCN,UNQ6975,USP34,VIT,VRK2,WDR43,XDH,XPO1,YIPF4,YPEL5,ZFP36L2,ZNF512,ZNF513 chr2 27105176 27161737 Gain and loss Pancreatic cancer SNP array 17952125 DPYSL5 chr2 2710594 2710694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 27109349 27118065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 27127995 27146985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 27127995 27146985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 27155034 27162767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 27155034 27162767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 27155501 27164000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPYSL5 chr2 27162665 27162763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPYSL5 chr2 27163115 27177123 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 27163115 27177123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPYSL5 chr2 27164001 27461500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABHD1,AGBL5,ATRAID,C2orf53,CAD,CGREF1,DPYSL5,EMILIN1,KHK,MAPRE3,OST4,PREB,SLC5A6,TCF23,TMEM214 chr2 27167473 27176214 Gain and loss Pancreatic cancer SNP array 17952125 DPYSL5 chr2 27175261 27195487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27175261 27195487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27186200 27205140 Gain and loss Pancreatic cancer SNP array 17952125 MAPRE3 chr2 27200161 27207182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27200161 27207182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27202165 28278480 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,BRE,BRE-AS1,C2orf16,C2orf53,CAD,CCDC121,CGREF1,DNAJC5G,EIF2B4,EMILIN1,FNDC4,FTH1P3,GCKR,GPN1,GTF3C2,IFT172,KHK,KRTCAP3,LOC100505624,MAPRE3,MIR4263,MPV17,MRPL33,NRBP1,OST4,PPM1G,PREB,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TRIM54,UCN,ZNF512,ZNF513 chr2 2720363 2725803 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 27207131 27211046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27207131 27211046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27213219 27215836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27213219 27215836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27213413 27220914 Gain and loss Pancreatic cancer SNP array 17952125 MAPRE3 chr2 27217284 27217352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27221745 27235291 Gain and loss Pancreatic cancer SNP array 17952125 MAPRE3 chr2 27225376 27229882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27225376 27229882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27234935 27235601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAPRE3 chr2 27235793 27238885 Gain and loss Pancreatic cancer SNP array 17952125 MAPRE3 chr2 27238431 27781188 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,C2orf53,CAD,CGREF1,DNAJC5G,EIF2B4,EMILIN1,FNDC4,FTH1P3,GCKR,GTF3C2,IFT172,KHK,KRTCAP3,LOC100505624,MAPRE3,MPV17,NRBP1,OST4,PPM1G,PREB,SLC30A3,SLC5A6,SNX17,TCF23,TMEM214,TRIM54,UCN,ZNF513 chr2 27242533 27762593 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,C2orf53,CAD,CGREF1,DNAJC5G,EIF2B4,EMILIN1,FNDC4,FTH1P3,GCKR,GTF3C2,IFT172,KHK,KRTCAP3,LOC100505624,MAPRE3,MPV17,NRBP1,OST4,PPM1G,PREB,SLC30A3,SLC5A6,SNX17,TCF23,TMEM214,TRIM54,UCN,ZNF513 chr22 7242758 15309267 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr2 27245648 28499805 LOH Normal High-resolution SNP genotyping 21211785 ABHD1,AGBL5,ATRAID,BRE,BRE-AS1,C2orf16,C2orf53,CAD,CCDC121,CGREF1,DNAJC5G,EIF2B4,EMILIN1,FNDC4,FTH1P3,GCKR,GPN1,GTF3C2,IFT172,KHK,KRTCAP3,LOC100505624,MAPRE3,MIR4263,MPV17,MRPL33,NRBP1,OST4,PPM1G,PREB,RBKS,SLC30A3,SLC4A1AP,SLC5A6,SNX17,SUPT7L,TCF23,TMEM214,TRIM54,UCN,ZNF512,ZNF513 chr2 27258308 27265329 Gain and loss Pancreatic cancer SNP array 17952125 TMEM214 chr2 27265278 27269193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 27271374 27273929 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 27275431 27275499 Gain and loss Pancreatic cancer SNP array 17952125 AGBL5 chr2 27275963 27288575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL5 chr2 27275963 27288575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL5 chr2 27283653 27287386 Gain and loss Pancreatic cancer SNP array 17952125 AGBL5 chr2 27286758 27286838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGBL5 chr2 27288403 27293550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AGBL5,OST4 chr2 27288403 27293550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AGBL5,OST4 chr2 27293762 27320158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMILIN1,KHK,OST4 chr2 27293762 27320158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMILIN1,KHK,OST4 chr2 27316801 34546804 Copy number Lung cancer paired-end sequencing 18438408 ABHD1,ALK,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf53,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CGREF1,CLIP4,DNAJC5G,DPY30,EHD3,EIF2B4,FAM179A,FAM98A,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GPN1,GTF3C2,IFT172,KHK,KRTCAP3,LBH,LCLAT1,LINC00486,LOC100271832,LOC100505624,LOC100505716,LTBP1,MEMO1,MIR4263,MIR4765,MIR558,MPV17,MRPL33,MYADML,NLRC4,NRBP1,PLB1,PPM1G,PPP1CB,PREB,RASGRP3,RBKS,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SNORD53,SNORD92,SNX17,SPAST,SPDYA,SRD5A2,SUPT7L,TCF23,TRIM54,TRMT61B,TTC27,UCN,WDR43,XDH,YIPF4,YPEL5,ZNF512,ZNF513 chr2 27330975 27339631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGREF1 chr2 27330975 27339631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGREF1 chr2 27334110 27346722 Gain and loss Pancreatic cancer SNP array 17952125 ABHD1,CGREF1 chr2 27346723 27351704 Gain and loss Pancreatic cancer SNP array 17952125 ABHD1 chr2 27351793 27357871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD1,PREB chr2 27351793 27357871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD1,PREB chr2 27351909 27378305 Gain and loss Pancreatic cancer SNP array 17952125 ABHD1,C2orf53,PREB,TCF23 chr2 27358934 27383811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf53,TCF23 chr2 27358934 27383811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf53,TCF23 chr2 27361447 27361510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf53 chr2 27383769 27384634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 27383769 27384634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 27385864 27402051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 27385864 27402051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 27388203 27397425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 27402220 27433372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC5A6 chr2 27402220 27433372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC5A6 chr2 27409940 27415947 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 27417251 27441953 Gain and loss Pancreatic cancer SNP array 17952125 ATRAID,CAD,SLC5A6 chr2 27432885 27441787 Gain Normal 244K array 17666407 ATRAID,CAD,SLC5A6 chr2 27435154 27435204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATRAID,SLC5A6 chr2 27440723 27446828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAD chr2 27440723 27446828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAD chr2 27441916 27442781 Gain and loss Pancreatic cancer SNP array 17952125 CAD chr2 27443962 27471288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CAD chr2 27444013 27457082 Gain and loss Pancreatic cancer SNP array 17952125 CAD chr2 27446892 27453498 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CAD chr2 27446893 27453498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAD chr2 27446893 27453498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAD chr2 27449808 27449908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAD chr2 27453606 27457097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAD chr2 27453606 27457097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAD chr2 27457566 27486000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAD,SLC30A3 chr2 27457566 27486000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAD,SLC30A3 chr2 27460374 27491271 Gain and loss Pancreatic cancer SNP array 17952125 CAD,SLC30A3 chr22 7467408 22621971 Copy number Lung cancer paired-end sequencing 18438408 AIFM3,ANKRD62P1-PARP4P3,ARVCF,ATP6V1E1,BCL2L13,BCRP2,BID,C22orf25,C22orf29,C22orf39,CCDC116,CCT8L2,CDC45,CECR1,CECR2,CECR3,CECR5,CECR5-AS1,CECR6,CECR7,CLDN5,CLTCL1,COMT,CRKL,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,FLJ41941,GAB4,GGT3P,GNB1L,GP1BB,GSC2,HIC2,HIRA,HSFY1P1,IL17RA,KLHL22,LOC150185,LOC150197,LOC284865,LOC388849,LOC400891,LOC729444,LZTR1,MAPK1,MED15,MICAL3,MIR1286,MIR1306,MIR130B,MIR185,MIR301B,MIR3198-1,MIR3618,MIR4761,MIR648,MRPL40,OR11H1,P2RX6,P2RX6P,PEX26,PI4KA,PI4KAP1,PI4KAP2,POM121L4P,POM121L8P,POTEH,PPIL2,PPM1F,PRODH,RANBP1,RIMBP3,RIMBP3B,RIMBP3C,RTN4R,SCARF2,SDF2L1,SEPT5,SEPT5-GP1BB,SERPIND1,SLC25A1,SLC25A18,SLC7A4,SNAP29,TBX1,THAP7,THAP7-AS1,TMEM191A,TMEM191B,TMEM191C,TOP3B,TPTEP1,TRMT2A,TSSK2,TUBA3FP,TUBA8,TXNRD2,UBE2L3,UFD1L,USP18,VPREB1,XKR3,YDJC,YPEL1,ZDHHC8,ZNF74 chr2 27469182 27469911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 27469182 27469911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 27498872 27504851 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC5G chr2 27504160 27518628 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 DNAJC5G,TRIM54 chr2 27504161 27518630 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DNAJC5G,TRIM54 chr2 27504161 27518630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC5G,TRIM54 chr2 27504161 27518630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC5G,TRIM54 chr2 27505040 27511645 Gain and loss Pancreatic cancer SNP array 17952125 TRIM54 chr2 27511750 27515244 Gain and loss Pancreatic cancer SNP array 17952125 TRIM54 chr2 27515713 27544147 Gain and loss Pancreatic cancer SNP array 17952125 MPV17,TRIM54,UCN chr2 27518767 27520667 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TRIM54 chr2 27518767 27520668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM54 chr2 27520745 27566075 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GTF3C2,LOC100505624,MPV17,TRIM54,UCN chr2 27520745 27566144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF3C2,LOC100505624,MPV17,TRIM54,UCN chr2 27520745 27566144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF3C2,LOC100505624,MPV17,TRIM54,UCN chr2 27531527 27532233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 27551865 27551966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF3C2 chr2 27562308 27576773 Gain and loss Pancreatic cancer SNP array 17952125 GTF3C2 chr2 27568254 27571630 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 GTF3C2 chr2 27568255 27571590 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GTF3C2 chr2 27568255 27571590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF3C2 chr2 27568255 27571590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF3C2 chr2 27573210 27600052 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EIF2B4,GTF3C2,SNX17 chr2 27573210 27600052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2B4,GTF3C2,SNX17 chr2 27573210 27600052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2B4,GTF3C2,SNX17 chr2 27576914 27578814 Gain and loss Pancreatic cancer SNP array 17952125 GTF3C2 chr2 27578892 27624222 Gain and loss Pancreatic cancer SNP array 17952125 EIF2B4,FTH1P3,GTF3C2,PPM1G,SNX17,ZNF513 chr2 2760758 2760858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 27608797 27608897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1G chr2 27610002 27610113 Gain and loss Pancreatic cancer SNP array 17952125 PPM1G chr2 27610015 27610116 Gain and loss Pancreatic cancer SNP array 17952125 PPM1G chr2 2762579 2763628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 27626402 27629737 Gain and loss Pancreatic cancer SNP array 17952125 PPM1G chr2 27631357 27658199 Gain and loss Pancreatic cancer SNP array 17952125 NRBP1,PPM1G chr2 27652893 27659087 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NRBP1 chr2 27652944 27658898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRBP1 chr2 27657282 27658546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRBP1 chr2 27657618 27772657 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FNDC4,GCKR,IFT172,KRTCAP3,NRBP1 chr2 27658260 27658317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRBP1 chr2 27659397 27699465 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IFT172,KRTCAP3,NRBP1 chr2 27659397 27699465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT172,KRTCAP3,NRBP1 chr2 27659397 27699465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT172,KRTCAP3,NRBP1 chr2 27674642 27674737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT172 chr2 27699106 28367414 LOH Normal High-resolution SNP genotyping 21211785 BRE,BRE-AS1,C2orf16,CCDC121,FNDC4,GCKR,GPN1,IFT172,MIR4263,MRPL33,RBKS,SLC4A1AP,SUPT7L,ZNF512 chr2 27700000 29800000 Amplification Urothelial cell carcinoma FISH 18451213 ALK,BRE,BRE-AS1,C2orf16,C2orf71,CCDC121,CLIP4,FAM179A,FNDC4,FOSL2,GCKR,GPN1,IFT172,LOC100505716,MIR4263,MRPL33,PLB1,PPP1CB,RBKS,SLC4A1AP,SNORD53,SNORD92,SPDYA,SUPT7L,TRMT61B,WDR43,ZNF512 chr2 27702010 27705383 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IFT172 chr2 27702010 27705383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT172 chr2 27702010 27705383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT172 chr2 27705029 27727215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNDC4,GCKR,IFT172 chr2 27705029 27727215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC4,GCKR,IFT172 chr2 27705407 27727215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FNDC4,GCKR,IFT172 chr2 27713763 28188918 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 BRE,BRE-AS1,C2orf16,CCDC121,FNDC4,GCKR,GPN1,MRPL33,RBKS,SLC4A1AP,SUPT7L,ZNF512 chr2 27714180 27717240 Gain and loss Pancreatic cancer SNP array 17952125 FNDC4 chr2 27717544 27757609 Gain and loss Pancreatic cancer SNP array 17952125 FNDC4,GCKR chr2 27718414 27718540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 2772 68521 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM110C chr2 27727183 27739953 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GCKR chr2 27727183 27740011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GCKR chr2 27727183 27740011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GCKR chr2 2772 72820 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM110C chr2 2772 91514 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM110C chr2 27729787 27729887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCKR chr2 27739842 27771335 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GCKR chr2 27739842 27771347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GCKR chr2 27739842 27771347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GCKR chr2 27760157 27763530 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 2776101 2780100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 27763554 27785362 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 27776561 27776687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 2777780 2778249 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 27783134 27792103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 27783134 27792103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 27787570 27798158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 27797989 27829482 Gain and loss Pancreatic cancer SNP array 17952125 C2orf16,ZNF512 chr2 2784 364086 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ACP1,FAM110C,FAM150B,SH3YL1 chr2 27848088 27856112 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC121,GPN1 chr2 27848088 27856112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC121,GPN1 chr2 27848088 27856112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC121,GPN1 chr2 27857770 27966727 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPN1,SLC4A1AP,SUPT7L chr2 27857770 27966727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPN1,SLC4A1AP,SUPT7L chr2 27857770 27966727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPN1,SLC4A1AP,SUPT7L chr2 27906237 27914252 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A1AP chr2 27915917 28024874 Gain and loss Pancreatic cancer SNP array 17952125 MRPL33,RBKS,SLC4A1AP chr2 27941519 27941609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 27952864 27952963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 27966986 28415272 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRE,BRE-AS1,MIR4263,MRPL33,RBKS chr2 27966986 28415272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRE,BRE-AS1,MIR4263,MRPL33,RBKS chr2 27966986 28415272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRE,BRE-AS1,MIR4263,MRPL33,RBKS chr2 27972987 28136281 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BRE,BRE-AS1,MRPL33,RBKS chr2 27996897 27996951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPL33 chr2 28008899 28924867 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 BRE,BRE-AS1,FOSL2,LOC100505716,MIR4263,PLB1,RBKS chr2 28025133 28473416 Gain and loss Pancreatic cancer SNP array 17952125 BRE,BRE-AS1,MIR4263,RBKS chr2 28092181 28092853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBKS chr2 28104733 28111612 Loss Normal 244K array 17666407 RBKS chr2 28150391 28151000 Gain and loss Pancreatic cancer SNP array 17952125 BRE chr2 28199 5005322 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC339822,LOC727982,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,TMEM18,TPO,TRAPPC12,TSSC1 chr2 28207425 28207751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BRE chr2 28216767 65775361 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCG5,ABCG8,ACTR2,ACYP2,AFTPH,AHSA2,ALK,ARHGEF33,ASB3,ATL2,ATP6V1E2,B3GNT2,BCL11A,BIRC6,BRE,C2orf56,C2orf61,C2orf71,C2orf73,C2orf74,C2orf91,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC75,CCDC85A,CCDC88A,CCT4,CDC42EP3,CDKL4,CEBPZ,CEP68,CHAC2,CLHC1,CLIP4,COMMD1,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DBIL5P2,DHX57,DPY30,DYNC2LI1,EFEMP1,EHBP1,EHD3,EIF2AK2,EML4,EML6,EPAS1,EPCAM,ERLEC1,FAM161A,FAM179A,FAM82A1,FAM98A,FANCL,FBXO11,FEZ2,FLJ16341,FLJ30838,FOSL2,FOXN2,FSHR,GALM,GALNT14,GEMIN6,GPR75,GPR75-ASB3,GTF2A1L,HAAO,HEATR5B,HNRPLL,KCNG3,KCNK12,KIAA1841,LBH,LCLAT1,LGALSL,LHCGR,LINC00309,LINC00486,LOC100129726,LOC100132215,LOC100134259,LOC100271832,LOC100288911,LOC100505716,LOC100505876,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MCFD2,MDH1,MEMO1,MIR216A,MIR216B,MIR217,MIR3682,MIR4263,MIR4426,MIR4432,MIR4434,MIR4765,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MSH2,MSH6,MTA3,MTIF2,MYADML,NLRC4,NRXN1,OTX1,OXER1,PAPOLG,PELI1,PEX13,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,PPM1B,PPP1CB,PPP1R21,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PUS10,QPCT,RAB1A,RASGRP3,REL,RHOQ,RPL23AP32,RPS27A,RTN4,SERTAD2,SIX2,SIX3,SLC1A4,SLC30A6,SLC3A1,SLC8A1,SLC8A1-AS1,SMEK2,SNORA70B,SNORD53,SNORD92,SOCS5,SOS1,SPAST,SPDYA,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,THADA,THUMPD2,TMEM17,TMEM178A,TMEM247,TRMT61B,TSPYL6,TTC27,TTC7A,UGP2,UNQ6975,USP34,VIT,VPS54,VRK2,WDPCP,WDR43,XDH,XPO1,YIPF4,YPEL5,ZFP36L2 chr2 28233361 28233461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRE chr2 28234801 28791400 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRE,FOSL2,LOC100505716,PLB1 chr2 28253811 28253874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BRE chr2 283398 283498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM150B chr2 2835257 2835357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 28395001 28426000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRE chr2 28401649 28403902 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BRE chr2 28419270 28419370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRE chr2 28426001 28440500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRE chr2 28440501 28720000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRE,FOSL2,LOC100505716,PLB1 chr2 28469173 28493683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRE chr2 28469173 28493683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRE chr2 28469282 28491020 Gain or loss Breast cancer - 20668451 BRE chr2 28469282 28491020 Gain or loss Cancer - 20668451 BRE chr2 28469282 28491020 Gain or loss Lung cancer - 20668451 BRE chr2 28469282 28491020 Gain or loss Ovarian cancer - 20668451 BRE chr2 28469282 28491020 Gain or loss Pancreas cancer - 20668451 BRE chr2 28469282 28491020 Gain or loss Prostate cancer - 20668451 BRE chr2 28469282 28491020 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 BRE chr2 28497864 28879745 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 BRE,FOSL2,LOC100505716,PLB1 chr2 28501042 28501142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRE chr2 28515170 28515222 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BRE chr2 28515171 28515223 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 BRE chr2 28527320 28551096 Gain and loss Pancreatic cancer SNP array 17952125 BRE,LOC100505716 chr2 28533401 28537100 Deletion Glioma mate-paired sequence 20126413 BRE chr2 28572485 28720117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOSL2,PLB1 chr2 28572485 28720117 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FOSL2,PLB1 chr2 28572485 28720117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOSL2,PLB1 chr2 2862501 3706000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADI1,ALLC,COLEC11,LOC100506054,RNASEH1,RPS7,TRAPPC12,TSSC1 chr2 28626524 28626603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOSL2 chr2 28633272 28633351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOSL2 chr2 28652984 28780143 Gain and loss Pancreatic cancer SNP array 17952125 PLB1 chr2 28736437 28777783 Gain and loss Pancreatic cancer SNP array 17952125 PLB1 chr2 28760346 28760453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLB1 chr2 28813737 28838596 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLB1 chr2 28814 36385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 28814 36385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 28828117 28879310 Gain or loss Breast cancer - 20668451 PLB1 chr2 28828117 28879310 Gain or loss Cancer - 20668451 PLB1 chr2 28828117 28879310 Gain or loss Lung cancer - 20668451 PLB1 chr2 28828117 28879310 Gain or loss Ovarian cancer - 20668451 PLB1 chr2 28828117 28879310 Gain or loss Pancreas cancer - 20668451 PLB1 chr2 28828117 28879310 Gain or loss Prostate cancer - 20668451 PLB1 chr2 28828118 28879300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLB1 chr2 28828118 28879300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLB1 chr2 28842723 28842820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLB1 chr2 2888028 2888207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 28886265 28937456 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 28887189 28926981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 28887189 28926981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 2889706 2889976 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 28924867 30052909 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ALK,C2orf71,CLIP4,FAM179A,PPP1CB,SNORD53,SNORD92,SPDYA,TRMT61B,WDR43 chr2 28926196 28946669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 28926395 28926871 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr2 28926403 28927303 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 28938877 28940777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 28941649 28946533 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr2 2894204 2894262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 28945368 28985124 Gain and loss Pancreatic cancer SNP array 17952125 PPP1CB chr2 28946737 29024592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP1CB chr2 28946737 29024592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1CB chr2 28955475 28955858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 28956579 28956633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 28984341 29004816 Gain and loss Pancreatic cancer SNP array 17952125 PPP1CB chr2 28990032 28990119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1CB chr2 28993801 31625000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALK,C2orf71,CAPN13,CAPN14,CLIP4,EHD3,FAM179A,GALNT14,LBH,LCLAT1,PPP1CB,SNORD53,SNORD92,SPDYA,TRMT61B,WDR43,XDH,YPEL5 chr2 29000 9629000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ACP1,ADI1,ALLC,ASAP2,CMPK2,COLEC11,CPSF3,FAM110C,FAM150B,IAH1,ID2,ITGB1BP1,KIDINS220,LINC00299,LINC00487,LOC100505964,LOC100506054,LOC100506274,LOC150622,LOC339788,LOC339822,LOC400940,LOC727982,LOC730811,MBOAT2,MYT1L,PXDN,RNASEH1,RNF144A,RNF144A-AS1,RPS7,RSAD2,SH3YL1,SNTG2,SOX11,TMEM18,TPO,TRAPPC12,TSSC1 chr2 29003437 29003514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1CB chr2 29003613 29003710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1CB chr2 29004353 29004430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1CB chr2 29022902 29023002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP1CB chr2 29027575 29027675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 29029187 29082735 Gain and loss Pancreatic cancer SNP array 17952125 SPDYA,TRMT61B chr2 29031070 30309690 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 ALK,C2orf71,CLIP4,FAM179A,SNORD53,SNORD92,SPDYA,TRMT61B,WDR43 chr2 29032981 29128600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPDYA,TRMT61B,WDR43 chr2 29032981 29128600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPDYA,TRMT61B,WDR43 chr2 29048784 29048891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPDYA chr2 29053001 29150000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNORD53,SNORD92,SPDYA,TRMT61B,WDR43 chr2 29061584 29061661 Gain and loss Pancreatic cancer SNP array 17952125 SPDYA chr2 29061762 29061857 Gain and loss Pancreatic cancer SNP array 17952125 SPDYA chr2 29061763 29061857 Gain and loss Pancreatic cancer SNP array 17952125 SPDYA chr2 29062501 29062575 Gain and loss Pancreatic cancer SNP array 17952125 SPDYA chr2 29106933 29107038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 29106934 29107038 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 29138062 29150631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNORD53,WDR43 chr2 29138062 29150631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNORD53,WDR43 chr2 29156997 29201589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR43 chr2 29167948 29182064 Gain and loss Pancreatic cancer SNP array 17952125 WDR43 chr2 29170000 31920000 Loss Breast cancer aCGH 21509527 ALK,C2orf71,CAPN13,CAPN14,CLIP4,EHD3,FAM179A,GALNT14,LBH,LCLAT1,SRD5A2,WDR43,XDH,YPEL5 chr2 29174075 29266008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM179A chr2 29174075 29266008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM179A chr2 29191822 29260176 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM179A chr2 29196209 29208778 Gain and loss Pancreatic cancer SNP array 17952125 FAM179A chr2 29202606 29202694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 29206184 29865372 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALK,C2orf71,CLIP4,FAM179A chr2 29206184 30117122 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALK,C2orf71,CLIP4,FAM179A chr2 2922084 3135330 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 NOT_FOUND chr2 29237692 29246766 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM179A chr2 29249969 29318323 Gain and loss Pancreatic cancer SNP array 17952125 C2orf71,FAM179A chr2 29265918 30451080 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALK,C2orf71,CLIP4,FAM179A,YPEL5 chr2 29269143 29997936 Gain Neuroblastoma comparative genomic hybridization 18923523 ALK,C2orf71,CLIP4,FAM179A chr2 29269143 29997936 Gain Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 ALK,C2orf71,CLIP4,FAM179A chr2 29269143 29997936 Gain or loss Breast cancer - 20668451 ALK,C2orf71,CLIP4,FAM179A chr2 29269143 29997936 Gain or loss Cancer - 20668451 ALK,C2orf71,CLIP4,FAM179A chr2 29269143 29997936 Gain or loss Lung cancer - 20668451 ALK,C2orf71,CLIP4,FAM179A chr2 29269143 29997936 Gain or loss Ovarian cancer - 20668451 ALK,C2orf71,CLIP4,FAM179A chr2 29269143 29997936 Gain or loss Pancreas cancer - 20668451 ALK,C2orf71,CLIP4,FAM179A chr2 29269143 29997936 Gain or loss Prostate cancer - 20668451 ALK,C2orf71,CLIP4,FAM179A chr2 29269143 29997936 Increases Lung cancer FISH 20877625 ALK,C2orf71,CLIP4,FAM179A chr2 29269144 29997029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALK,C2orf71,CLIP4,FAM179A chr2 29269144 29997029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALK,C2orf71,CLIP4,FAM179A chr2 29269594 29997029 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ALK,C2orf71,CLIP4,FAM179A chr2 29271102 29316080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2orf71,FAM179A chr2 29286136 29286210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf71 chr2 29290717 29290751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf71 chr2 29291001 29328500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf71 chr2 29291291 77945316 Copy number Lung cancer paired-end sequencing 18438408 AAK1,ABCG5,ABCG8,ACTG2,ACTR2,ACYP2,ADD2,AFTPH,AHSA2,ALK,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ARHGEF33,ASB3,ASPRV1,ATL2,ATP6V1B1,ATP6V1E2,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,C1D,C2orf42,C2orf56,C2orf61,C2orf65,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC142,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CDC42EP3,CDKL4,CEBPZ,CEP68,CHAC2,CLEC4F,CLHC1,CLIP4,CNRIP1,COMMD1,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYP26B1,DBIL5P2,DCTN1,DCTN1-AS1,DGUOK,DHX57,DOK1,DPY30,DQX1,DUSP11,DYNC2LI1,DYSF,EFEMP1,EGR4,EHBP1,EHD3,EIF2AK2,EML4,EML6,EMX1,EPAS1,EPCAM,ERLEC1,ETAA1,EXOC6B,FAM136A,FAM161A,FAM176A,FAM82A1,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FLJ16341,FLJ30838,FOXN2,FSHR,GALM,GALNT14,GCFC2,GEMIN6,GFPT1,GKN1,GKN2,GMCL1,GPR75,GPR75-ASB3,GTF2A1L,HAAO,HEATR5B,HK2,HNRPLL,HTRA2,INO80B,INO80B-WBP1,KCNG3,KCNK12,KIAA1841,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00309,LINC00486,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505876,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC644838,LOC728730,LOC728819,LOXL3,LRPPRC,LRRTM4,LTBP1,MAP4K3,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MIR216A,MIR216B,MIR217,MIR3126,MIR3682,MIR4426,MIR4432,MIR4434,MIR4765,MIR4778,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MRPL19,MRPL53,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,NAGK,NAT8,NAT8B,NFU1,NLRC4,NOTO,NRXN1,OR7E91P,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PELI1,PEX13,PIGF,PKDCC,PLEK,PLEKHH2,PNO1,PNPT1,POLE4,PPM1B,PPP1R21,PPP3R1,PRADC1,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PUS10,QPCT,RAB11FIP5,RAB1A,RASGRP3,REL,RHOQ,RPL23AP32,RPS27A,RTKN,RTN4,SEMA4F,SERTAD2,SFXN5,SIX2,SIX3,SLC1A4,SLC30A6,SLC3A1,SLC4A5,SLC8A1,SLC8A1-AS1,SMEK2,SMYD5,SNORA36C,SNORA70B,SNRNP27,SNRPG,SOCS5,SOS1,SPAST,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STAMBP,STON1,STON1-GTF2A1L,STRN,SULT6B1,TACR1,TET3,TEX261,TGFA,THADA,THUMPD2,TIA1,TLX2,TMEM17,TMEM178A,TMEM247,TPRKB,TSPYL6,TTC27,TTC31,TTC7A,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,WBP1,WDPCP,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,ZFP36L2,ZNF638 chr2 29327741 30055176 Gain and loss Pancreatic cancer SNP array 17952125 ALK,CLIP4 chr2 29335758 29338734 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 CLIP4 chr2 29390176 29420931 Amplification or deletion Cancer Array CGH 17440070 ALK,CLIP4 chr2 29390177 30118967 Amplification Neuroblastoma References 19638189 ALK,CLIP4 chr2 29415559 29415659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29415640 30144432 Amplification Neuroblastoma Affymetrix 10K SNP array 17327916 ALK chr2 29430069 29430142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29440065 29440130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29495168 29498893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ALK chr2 29495378 29497726 Gain Normal Birdsuite, version 1.5.2 22087296 ALK chr2 29580277 29580363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALK chr2 29672902 29673052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29685475 29685575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29744891 29744989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29746446 29779638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALK chr2 29757397 29757693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALK chr2 29757399 29757693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALK chr2 2977632 2977732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 29800000 31900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALK,CAPN13,CAPN14,EHD3,GALNT14,LBH,LCLAT1,SRD5A2,XDH,YPEL5 chr2 29800000 31900000 Gain Barrett's adenocarcinoma FISH 18663352 ALK,CAPN13,CAPN14,EHD3,GALNT14,LBH,LCLAT1,SRD5A2,XDH,YPEL5 chr2 29815544 29815840 Gain and loss Pancreatic cancer SNP array 17952125 ALK chr2 29830602 29830692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29852729 29852803 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ALK chr2 29865386 29900180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALK chr2 298734 298978 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 29934132 29945410 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALK chr2 29934132 29946856 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ALK chr2 29939633 29939733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29942281 29942366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 2994790 2994854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 29948151 29948245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29967833 29967933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 29996501 29998000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALK chr2 3000000 83700000 Gain Glioblastoma multiforme aCGH 21080181 AAK1,ABCG5,ABCG8,ABHD1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FAM136A,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC1720,LOC339788,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POLE4,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFXN5,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STAMBP,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TET3,TEX261,TGFA,THADA,THUMPD2,TIA1,TLX2,TMEM17,TMEM178A,TMEM214,TMEM247,TP53I3,TPRKB,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 3000000 83700000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 AAK1,ABCG5,ABCG8,ABHD1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FAM136A,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GKN1,GKN2,GMCL1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC1720,LOC339788,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400940,LOC400958,LOC644838,LOC645949,LOC727982,LOC728730,LOC728819,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PNO1,PNPT1,POLE4,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFXN5,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STAMBP,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TET3,TEX261,TGFA,THADA,THUMPD2,TIA1,TLX2,TMEM17,TMEM178A,TMEM214,TMEM247,TP53I3,TPRKB,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 30003341 30003441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 30022184 30025707 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ALK chr2 30025955 30071864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALK chr2 30049316 30049456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 30094224 30839278 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALK,LBH,LCLAT1,YPEL5 chr2 30122116 30122207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALK chr2 30142494 30142583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALK chr2 30153463 30154642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 30156630 30156768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 30171297 31571297 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 CAPN13,CAPN14,EHD3,GALNT14,LBH,LCLAT1,XDH,YPEL5 chr2 30223311 30236903 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 30223311 30236903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 30223311 30236903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 30263804 30263936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 30281479 30295050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 30286365 30286677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 30290000 30950000 Loss Acute lymphoblastic leukemia - 21339820 CAPN13,LBH,LCLAT1,YPEL5 chr2 30307899 30336395 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 30307899 30336395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 30307899 30400100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 YPEL5 chr2 30307899 30400100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 YPEL5 chr2 30321951 30322083 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 30366260 30394544 Gain and loss Pancreatic cancer SNP array 17952125 YPEL5 chr2 30374556 30406785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 YPEL5 chr2 30395968 30396051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 30418562 30418618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 30434401 30479195 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LBH chr2 30461176 30462033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LBH chr2 30467956 30485197 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LBH chr2 30500000 39300000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ARHGEF33,ATL2,BIRC6,C2orf56,CAPN13,CAPN14,CCDC75,CDC42EP3,CEBPZ,CRIM1,CYP1B1,CYP1B1-AS1,DHX57,DPY30,EHD3,EIF2AK2,FAM82A1,FAM98A,FEZ2,GALM,GALNT14,GEMIN6,HEATR5B,HNRPLL,LCLAT1,LINC00486,LOC100271832,LOC100288911,LOC100505876,LOC375196,LTBP1,MEMO1,MIR4765,MIR558,MORN2,MYADML,NLRC4,PRKD3,QPCT,RASGRP3,SLC30A6,SOS1,SPAST,SRD5A2,SRSF7,STRN,SULT6B1,TTC27,VIT,XDH,YIPF4 chr2 30508723 30508818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 30523613 30720594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LCLAT1 chr2 30523613 30720594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCLAT1 chr2 30523613 30720594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCLAT1 chr2 3055408 3055497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 30578959 30579059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 30581774 30778741 Gain and loss Pancreatic cancer SNP array 17952125 LCLAT1 chr2 3060975 3460506 Copy number Rett syndrome References 21593744 TRAPPC12,TSSC1 chr2 3060975 3460506 Deletion Rett syndrome References 21593744 TRAPPC12,TSSC1 chr2 30653930 30653968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 30670025 30670101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 30799141 30883816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LCLAT1 chr2 30799141 30883816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCLAT1 chr2 30822814 30823071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LCLAT1 chr2 30830197 30837843 Gain Normal 244K array 17666407 LCLAT1 chr2 30836149 30836249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LCLAT1 chr2 30837348 30837448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LCLAT1 chr2 30857291 30941962 Gain and loss Pancreatic cancer SNP array 17952125 LCLAT1 chr2 3085752 3099219 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 30882394 30882507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 30986836 31215075 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CAPN13,GALNT14 chr2 30986838 31215096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPN13,GALNT14 chr2 30986838 31215096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN13,GALNT14 chr2 31030020 31464871 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAPN13,CAPN14,EHD3,GALNT14 chr2 31044992 31273243 Gain and loss Pancreatic cancer SNP array 17952125 GALNT14 chr2 31106056 31745846 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAPN14,EHD3,GALNT14,XDH chr2 31111923 31112014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 3116230 3121877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 31173237 31173269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT14 chr2 31187018 31187113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT14 chr2 31196230 31196544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNT14 chr2 31202787 31218612 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GALNT14 chr2 3122083 3122183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31234313 31234395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT14 chr2 31251051 31310228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT14 chr2 31304682 31304791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT14 chr2 31305458 32121710 LOH Normal High-resolution SNP genotyping 21211785 CAPN14,EHD3,GALNT14,MEMO1,SRD5A2,XDH chr2 31310001 31338500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GALNT14 chr2 31310707 31344764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT14 chr2 31310707 31344764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT14 chr2 31319033 31319108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT14 chr2 31338501 31466000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPN14,EHD3,GALNT14 chr2 3136006 3185414 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 31362829 31362919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 31362830 31362931 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 31367172 31367974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 31368854 31402911 Gain and loss Pancreatic cancer SNP array 17952125 CAPN14 chr2 31396525 32948527 LOH Normal High-resolution SNP genotyping 21211785 BIRC6,CAPN14,DPY30,EHD3,MEMO1,MIR4765,MIR558,NLRC4,SLC30A6,SPAST,SRD5A2,TTC27,XDH,YIPF4 chr2 31410692 31491115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPN14,EHD3 chr2 31410692 31491115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN14,EHD3 chr2 31425331 31426121 Gain and loss Pancreatic cancer SNP array 17952125 CAPN14 chr2 31470147 31549264 Gain and loss Pancreatic cancer SNP array 17952125 EHD3 chr2 31493359 31493459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31527286 31527470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31527467 31527617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31553761 31553861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31559472 31559695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XDH chr2 31559568 31559668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XDH chr2 31559685 31559890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XDH chr2 31578686 31580897 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 XDH chr2 31581547 31691315 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 XDH chr2 3158507 3158641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 31601054 31659640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XDH chr2 31601054 31659640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XDH chr2 31606240 31606340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XDH chr2 31622068 31645413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 XDH chr2 31661307 31717620 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 31668405 31668505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31675296 31707171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 3171703 3360617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSSC1 chr2 3171703 3360617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSSC1 chr2 3171749 3360605 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 TSSC1 chr2 3171759 3360646 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSSC1 chr2 31738567 31738667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31752471 31752571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRD5A2 chr2 31761265 31761365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRD5A2 chr2 31813272 31813365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 3182474 3182474 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 31890274 31890374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31900000 182700000 Inversion Neurodevelopmental disorder oligonucleotide aCGH 22521361 AAK1,ABCB11,ABCG5,ABCG8,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADD2,ADRA2B,AFF3,AFTPH,AGPS,AHSA2,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASB3,ASPRV1,ASTL,ATF2,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1E2,AUP1,B3GALT1,B3GNT2,BAZ2B,BBS5,BCL11A,BCL2L11,BIN1,BIRC6,BMP10,BOLA3,BOLA3-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf49,C2orf56,C2orf61,C2orf65,C2orf68,C2orf73,C2orf74,C2orf76,C2orf78,C2orf81,C2orf91,CACNB4,CALM2,CAMKMT,CAPG,CBWD2,CCDC104,CCDC115,CCDC138,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCNT2,CCT4,CCT7,CD207,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDKL4,CEBPZ,CEP68,CERKL,CERS6,CFC1,CFC1B,CHAC2,CHCHD5,CHMP3,CHN1,CHRNA1,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COBLL1,COMMD1,COX5B,COX7A2L,CREG2,CRIM1,CRIPT,CSRNP3,CTNNA2,CWC22,CXCR4,CYBRD1,CYP1B1,CYP1B1-AS1,CYP26B1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DFNB59,DGUOK,DHRS9,DHX57,DKFZp686O1327,DLX1,DLX2,DNAH6,DOK1,DPP10,DPP4,DPY30,DQX1,DUSP11,DUSP2,DYNC1I2,DYNC2LI1,DYSF,EDAR,EFEMP1,EGR4,EHBP1,EIF2AK2,EIF2AK3,EIF5B,ELMOD3,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,ERCC3,ERLEC1,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM136A,FAM138B,FAM161A,FAM168B,FAM176A,FAM178B,FAM82A1,FAM98A,FANCL,FAP,FASTKD1,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FMNL2,FOXD4L1,FOXI3,FOXN2,FSHR,FUNDC2P2,G6PC2,GAD1,GALM,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GEMIN6,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GORASP2,GPAT2,GPD2,GPR148,GPR155,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GYPC,HAAO,HAT1,HEATR5B,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HTRA2,IFIH1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITGA4,ITGA6,ITGB6,ITPRIPL1,IWS1,KANSL3,KBTBD10,KCMF1,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF5C,KLHL23,KRCC1,KYNU,LBX2,LBX2-AS1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00486,LIPT1,LMAN2L,LOC100129726,LOC100129961,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505695,LOC100505876,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507334,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC728730,LOC728819,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRPPRC,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K3,MAP4K4,MARCH7,MARCO,MAT2A,MBD5,MCEE,MCFD2,MCM6,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL5,METTL8,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1246,MIR1258,MIR128-1,MIR216A,MIR216B,MIR217,MIR3126,MIR3127,MIR3128,MIR3679,MIR3682,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4444-1,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR548N,MIR558,MIR559,MIR5696,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOGS,MORN2,MPHOSPH10,MRPL19,MRPL30,MRPL35,MRPL53,MRPS5,MRPS9,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYO3B,MYO7B,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NCAPH,NCK2,NCKAP5,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NLRC4,NMI,NMS,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRXN1,NXPH2,OLA1,OR7E91P,ORC4,OSBPL6,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PDE11A,PDK1,PELI1,PEX13,PHOSPHO2,PHOSPHO2-KLHL23,PIGF,PKDCC,PKP4,PLA2R1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PPIG,PPM1B,PPP1R21,PPP3R1,PRADC1,PREPL,PRKCE,PRKD3,PRKRA,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTPN18,PTPN4,PUS10,QPCT,R3HDM1,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RASGRP3,RBM43,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOQ,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RNU6-81,RPIA,RPL23AP32,RPL23AP7,RPL31,RPRM,RPS27A,RTKN,RTN4,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SEMA4C,SEMA4F,SEPT10,SERTAD2,SESTD1,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC1A4,SLC20A1,SLC25A12,SLC30A6,SLC35F5,SLC38A11,SLC3A1,SLC4A10,SLC4A5,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA70F,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOCS5,SOS1,SOWAHC,SP3,SP5,SP9,SPAST,SPC25,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRSF7,SSB,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STEAP3,STK39,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLK1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM178A,TMEM182,TMEM185B,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TPRKB,TRABD2A,TRIM43,TRIM43B,TSGA10,TSN,TSPYL6,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC7A,TTL,TTN,TTN-AS1,TUBA3D,TUBA3E,TXNDC9,UBE2E3,UBR3,UBXN4,UGGT1,UGP2,UNC50,UNQ6975,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VWA3B,WASH2P,WBP1,WDPCP,WDR33,WDR54,WDR92,WDSUB1,WIPF1,WTH3DI,XIRP2,XPO1,YIPF4,YSK4,ZAK,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZFP36L2,ZNF2,ZNF385B,ZNF514,ZNF638,ZRANB3 chr2 31900000 36400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BIRC6,DPY30,FAM98A,LINC00486,LOC100271832,LTBP1,MEMO1,MIR4765,MIR558,MYADML,NLRC4,RASGRP3,SLC30A6,SPAST,TTC27,YIPF4 chr2 31900000 36400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BIRC6,DPY30,FAM98A,LINC00486,LOC100271832,LTBP1,MEMO1,MIR4765,MIR558,MYADML,NLRC4,RASGRP3,SLC30A6,SPAST,TTC27,YIPF4 chr2 31900000 36400000 Loss Breast cancer aCGH 21045282 BIRC6,DPY30,FAM98A,LINC00486,LOC100271832,LTBP1,MEMO1,MIR4765,MIR558,MYADML,NLRC4,RASGRP3,SLC30A6,SPAST,TTC27,YIPF4 chr2 31900000 41600000 Gain Prostate cancer Illumina 1M-Duo bead arrays 21965145 ARHGEF33,ATL2,BIRC6,C2orf56,CCDC75,CDC42EP3,CDKL4,CEBPZ,CRIM1,CYP1B1,CYP1B1-AS1,DHX57,DPY30,EIF2AK2,FAM82A1,FAM98A,FEZ2,GALM,GEMIN6,HEATR5B,HNRPLL,LINC00486,LOC100271832,LOC100288911,LOC100505876,LOC375196,LOC728730,LTBP1,MAP4K3,MEMO1,MIR4765,MIR558,MORN2,MYADML,NLRC4,PRKD3,QPCT,RASGRP3,SLC30A6,SLC8A1,SLC8A1-AS1,SOS1,SPAST,SRSF7,STRN,SULT6B1,THUMPD2,TMEM178A,TTC27,VIT,YIPF4 chr2 31900000 47600000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ABCG5,ABCG8,ARHGEF33,ATL2,ATP6V1E2,BIRC6,C2orf56,C2orf61,C2orf91,CALM2,CAMKMT,CCDC75,CDC42EP3,CDKL4,CEBPZ,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DPY30,DYNC2LI1,EIF2AK2,EML4,EPAS1,EPCAM,FAM82A1,FAM98A,FEZ2,GALM,GEMIN6,HAAO,HEATR5B,HNRPLL,KCNG3,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505876,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MCFD2,MEMO1,MIR4765,MIR548AD,MIR558,MORN2,MTA3,MYADML,NLRC4,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,PRKD3,QPCT,RASGRP3,RHOQ,SIX2,SIX3,SLC30A6,SLC3A1,SLC8A1,SLC8A1-AS1,SOCS5,SOS1,SPAST,SRBD1,SRSF7,STRN,SULT6B1,THADA,THUMPD2,TMEM178A,TMEM247,TTC27,TTC7A,UNQ6975,VIT,YIPF4,ZFP36L2 chr2 31900000 47600000 Gain Breast cancer - 16397240 ABCG5,ABCG8,ARHGEF33,ATL2,ATP6V1E2,BIRC6,C2orf56,C2orf61,C2orf91,CALM2,CAMKMT,CCDC75,CDC42EP3,CDKL4,CEBPZ,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DPY30,DYNC2LI1,EIF2AK2,EML4,EPAS1,EPCAM,FAM82A1,FAM98A,FEZ2,GALM,GEMIN6,HAAO,HEATR5B,HNRPLL,KCNG3,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505876,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MCFD2,MEMO1,MIR4765,MIR548AD,MIR558,MORN2,MTA3,MYADML,NLRC4,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,PRKD3,QPCT,RASGRP3,RHOQ,SIX2,SIX3,SLC30A6,SLC3A1,SLC8A1,SLC8A1-AS1,SOCS5,SOS1,SPAST,SRBD1,SRSF7,STRN,SULT6B1,THADA,THUMPD2,TMEM178A,TMEM247,TTC27,TTC7A,UNQ6975,VIT,YIPF4,ZFP36L2 chr2 31900000 61100000 Amplification Esophageal squamous carcinoma CGH 21637470 ABCG5,ABCG8,ACYP2,ARHGEF33,ASB3,ATL2,ATP6V1E2,BCL11A,BIRC6,C2orf56,C2orf61,C2orf73,C2orf91,CALM2,CAMKMT,CCDC104,CCDC75,CCDC85A,CCDC88A,CDC42EP3,CDKL4,CEBPZ,CHAC2,CLHC1,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DPY30,DYNC2LI1,EFEMP1,EIF2AK2,EML4,EML6,EPAS1,EPCAM,ERLEC1,FAM82A1,FAM98A,FANCL,FBXO11,FEZ2,FLJ16341,FLJ30838,FOXN2,FSHR,GALM,GEMIN6,GPR75,GPR75-ASB3,GTF2A1L,HAAO,HEATR5B,HNRPLL,KCNG3,KCNK12,LHCGR,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505876,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MCFD2,MEMO1,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MSH2,MSH6,MTA3,MTIF2,MYADML,NLRC4,NRXN1,OXER1,PAPOLG,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,QPCT,RASGRP3,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC30A6,SLC3A1,SLC8A1,SLC8A1-AS1,SMEK2,SOCS5,SOS1,SPAST,SPTBN1,SRBD1,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,THADA,THUMPD2,TMEM178A,TMEM247,TSPYL6,TTC27,TTC7A,UNQ6975,VIT,VRK2,YIPF4,ZFP36L2 chr2 31900000 61100000 Amplification Neuroblastoma Agilent 44K and 244K platform aCGH 21508638 ABCG5,ABCG8,ACYP2,ARHGEF33,ASB3,ATL2,ATP6V1E2,BCL11A,BIRC6,C2orf56,C2orf61,C2orf73,C2orf91,CALM2,CAMKMT,CCDC104,CCDC75,CCDC85A,CCDC88A,CDC42EP3,CDKL4,CEBPZ,CHAC2,CLHC1,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DPY30,DYNC2LI1,EFEMP1,EIF2AK2,EML4,EML6,EPAS1,EPCAM,ERLEC1,FAM82A1,FAM98A,FANCL,FBXO11,FEZ2,FLJ16341,FLJ30838,FOXN2,FSHR,GALM,GEMIN6,GPR75,GPR75-ASB3,GTF2A1L,HAAO,HEATR5B,HNRPLL,KCNG3,KCNK12,LHCGR,LINC00486,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505876,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,LTBP1,MAP4K3,MCFD2,MEMO1,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MSH2,MSH6,MTA3,MTIF2,MYADML,NLRC4,NRXN1,OXER1,PAPOLG,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,QPCT,RASGRP3,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC30A6,SLC3A1,SLC8A1,SLC8A1-AS1,SMEK2,SOCS5,SOS1,SPAST,SPTBN1,SRBD1,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,THADA,THUMPD2,TMEM178A,TMEM247,TSPYL6,TTC27,TTC7A,UNQ6975,VIT,VRK2,YIPF4,ZFP36L2 chr2 31901318 31901812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 3194166 3214801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSSC1 chr2 31946396 32089547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 31946396 32089547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 31951980 31952208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31952106 31952206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31952196 31952450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 31959311 31960156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 31971016 31971116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 3199179 3243625 Gain and loss Pancreatic cancer SNP array 17952125 TSSC1 chr2 31998435 31998522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 32004547 32147349 Gain and loss Pancreatic cancer SNP array 17952125 MEMO1 chr2 32012487 32842602 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 BIRC6,DPY30,MEMO1,MIR558,NLRC4,SLC30A6,SPAST,YIPF4 chr2 32024648 32062403 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 32057392 32057472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 32064575 32064655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 32100000 41800000 Gain Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ARHGEF33,ATL2,BIRC6,C2orf56,CCDC75,CDC42EP3,CDKL4,CEBPZ,CRIM1,CYP1B1,CYP1B1-AS1,DHX57,DPY30,EIF2AK2,FAM82A1,FAM98A,FEZ2,GALM,GEMIN6,HEATR5B,HNRPLL,LINC00486,LOC100271832,LOC100288911,LOC100505876,LOC375196,LOC728730,LTBP1,MAP4K3,MEMO1,MIR4765,MIR558,MORN2,MYADML,NLRC4,PRKD3,QPCT,RASGRP3,SLC30A6,SLC8A1,SLC8A1-AS1,SOS1,SPAST,SRSF7,STRN,SULT6B1,THUMPD2,TMEM178A,TTC27,VIT,YIPF4 chr2 32102476 32118366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEMO1 chr2 32102476 32118366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEMO1 chr2 32122722 32122802 Gain and loss Pancreatic cancer SNP array 17952125 MEMO1 chr2 32142183 32236210 Deletion Autosomal-dominant hereditary spastic paraplegia multiplex ligation-dependent probe amplification 17098887 MEMO1 chr2 32142183 32236210 Deletion hereditary spastic paraplegia 8 15 K Agilent oligonucleotide microarray 21659953 MEMO1 chr2 32142183 32236210 Deletion hereditary spastic paraplegia multiplex ligation-dependent probe amplification, locus-specific array comparative genomic hybridization, breakpoint DNA sequencing 21659953 MEMO1 chr2 32142184 32236209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEMO1 chr2 32142184 32236209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEMO1 chr2 32146866 32150576 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MEMO1 chr2 32146866 32150576 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 MEMO1 chr2 32160626 32176513 Gain and loss Pancreatic cancer SNP array 17952125 MEMO1 chr2 32195893 32196063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEMO1 chr2 32200331 32294356 Gain and loss Pancreatic cancer SNP array 17952125 DPY30,MEMO1,SPAST chr2 3222605 3241494 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSSC1 chr2 32244437 32302672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPY30,SPAST chr2 32244437 32302672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPY30,SPAST chr2 32254040 32254210 Gain and loss Pancreatic cancer SNP array 17952125 DPY30 chr2 32280173 32282572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 32293029 32293135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAST chr2 3229380 3242657 Loss Normal 244K array 17666407 TSSC1 chr2 32302584 32358460 Gain and loss Pancreatic cancer SNP array 17952125 SPAST chr2 32303027 32344427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPAST chr2 32303027 32344427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAST chr2 32317426 32317526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPAST chr2 32351176 32351282 Gain and loss Pancreatic cancer SNP array 17952125 SPAST chr2 32351177 32351282 Gain and loss Pancreatic cancer SNP array 17952125 SPAST chr2 32355312 33187433 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-373K arrays 21546498 BIRC6,LINC00486,LOC100271832,LTBP1,MIR4765,MIR558,NLRC4,SLC30A6,SPAST,TTC27,YIPF4 chr2 32356461 32401406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC30A6,SPAST chr2 32356483 32385158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPAST chr2 32356483 32385158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPAST chr2 32361171 32402574 Gain and loss Pancreatic cancer SNP array 17952125 SLC30A6,SPAST chr2 32368902 33334527 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BIRC6,LINC00486,LOC100271832,LTBP1,MIR4765,MIR558,NLRC4,SLC30A6,SPAST,TTC27,YIPF4 chr2 32368902 35529115 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BIRC6,FAM98A,LINC00486,LOC100271832,LTBP1,MIR4765,MIR558,MYADML,NLRC4,RASGRP3,SLC30A6,SPAST,TTC27,YIPF4 chr2 32380057 32383495 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SPAST chr2 32389646 32389738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 32395614 32395768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC30A6 chr2 32414630 32443305 Gain and loss Pancreatic cancer SNP array 17952125 SLC30A6 chr2 32435600 32697467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BIRC6,NLRC4,SLC30A6,YIPF4 chr2 32435600 32697467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIRC6,NLRC4,SLC30A6,YIPF4 chr2 32447793 32447885 Gain and loss Pancreatic cancer SNP array 17952125 SLC30A6 chr2 32493965 32754622 Gain and loss Pancreatic cancer SNP array 17952125 BIRC6,YIPF4 chr2 32520116 32520176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YIPF4 chr2 32610724 32610817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIRC6 chr2 32691038 32691138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BIRC6 chr2 32706633 32899620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BIRC6,MIR4765,MIR558,TTC27 chr2 32706633 32899620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BIRC6,MIR4765,MIR558,TTC27 chr2 32764780 32957767 Gain and loss Pancreatic cancer SNP array 17952125 BIRC6,MIR4765,TTC27 chr2 32800000 36300000 Copy number Kartagener syndrome reference 16639409 BIRC6,FAM98A,LINC00486,LOC100271832,LTBP1,MIR4765,MYADML,RASGRP3,TTC27 chr2 3282970 3310370 Gain and loss Pancreatic cancer SNP array 17952125 TSSC1 chr2 32888437 32888537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC27 chr2 32942601 32942701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC27 chr2 32943301 32950900 Deletion Glioma mate-paired sequence 20126413 TTC27 chr2 32945232 32949127 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TTC27 chr2 32979955 33025325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC27 chr2 32993001 32998500 Deletion Glioma mate-paired sequence 20126413 TTC27 chr2 32996933 32997033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC27 chr2 3302227 3302327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSSC1 chr2 33023910 33024022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC27 chr2 33025543 33478080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00486,LOC100271832,LTBP1,TTC27 chr2 33025543 33478080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00486,LOC100271832,LTBP1,TTC27 chr2 33032785 33088828 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LINC00486,TTC27 chr2 33046591 33046686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 33049915 33090765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00486 chr2 33075159 33085404 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 LINC00486 chr2 33075159 33085404 Total allelic loss Normal High-resolution SNP genotyping 21211785 LINC00486 chr2 33077282 33080799 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 LINC00486 chr2 33077282 33080799 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LINC00486 chr2 33077967 33080796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00486 chr2 33078009 33080817 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LINC00486 chr2 33082059 33082169 Gain and loss Pancreatic cancer SNP array 17952125 LINC00486 chr2 33084043 33536224 Gain and loss Pancreatic cancer SNP array 17952125 LINC00486,LOC100271832,LTBP1 chr2 3311304 3312564 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TSSC1 chr2 33129557 33143144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00486 chr2 33134904 33141684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00486 chr2 33169135 33367006 Loss Normal 244K array 17666407 LOC100271832,LTBP1 chr2 33364340 33364458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBP1 chr2 33375717 33684292 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LTBP1,RASGRP3 chr2 33378911 33587630 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LTBP1 chr2 33411469 33411555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBP1 chr2 33422517 33422605 Gain and loss Pancreatic cancer SNP array 17952125 LTBP1 chr2 33458932 33459032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LTBP1 chr2 33469616 33469702 Gain and loss Pancreatic cancer SNP array 17952125 LTBP1 chr2 33499151 33499251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LTBP1 chr2 33514895 33643321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LTBP1 chr2 33514895 33643321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBP1 chr2 33514919 33643162 Copy number Lung cancer - 20668451 LTBP1 chr2 33514919 33643162 Gain or loss Breast cancer - 20668451 LTBP1 chr2 33514919 33643162 Gain or loss Cancer - 20668451 LTBP1 chr2 33514919 33643162 Gain or loss Lung cancer - 20668451 LTBP1 chr2 33514919 33643162 Gain or loss Ovarian cancer - 20668451 LTBP1 chr2 33514919 33643162 Gain or loss Pancreas cancer - 20668451 LTBP1 chr2 33514919 33643162 Gain or loss Prostate cancer - 20668451 LTBP1 chr2 33573067 33701309 Gain and loss Pancreatic cancer SNP array 17952125 LTBP1,RASGRP3 chr2 33575718 33575808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LTBP1 chr2 33593707 36437270 Gain Autism Exome sequencing and CGH 22495309 FAM98A,LTBP1,MYADML,RASGRP3 chr2 33615783 33615871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTBP1 chr2 33617401 33622800 Deletion Glioma mate-paired sequence 20126413 LTBP1 chr2 33617977 33621197 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LTBP1 chr2 33618484 33621661 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LTBP1 chr2 3362453 3467864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAPPC12,TSSC1 chr2 3362453 3467864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAPPC12,TSSC1 chr2 33634790 33635117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 33662232 33677866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASGRP3 chr2 33662232 33677866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASGRP3 chr2 33673930 33674018 Gain and loss Pancreatic cancer SNP array 17952125 RASGRP3 chr2 33680612 33680857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASGRP3 chr2 33715073 33715996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASGRP3 chr2 33720380 33736013 Gain and loss Pancreatic cancer SNP array 17952125 RASGRP3 chr2 33804635 33806788 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 33805609 33806346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 33863756 33864493 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 33896836 33896936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 33918353 33919249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 33991366 33991466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34008090 34008177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 3405736 3405961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAPPC12 chr2 34062840 34081456 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 34090505 34192024 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 34092308 36005738 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr2 34148652 34386124 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr2 34204872 34204962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34223145 34223230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34255189 34255383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34255244 35373678 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 34255376 34255601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34376978 34378232 Deletion Normal - 21790672 NOT_FOUND chr2 34377159 34379223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34377193 34379324 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 34398922 34399436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34415965 34417729 Gain Normal 244K array 17666407 NOT_FOUND chr2 34424590 34424680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34435548 34436228 Gain Normal 244K array 17666407 NOT_FOUND chr2 34453698 34453798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34462544 34463254 Gain Normal 244K array 17666407 NOT_FOUND chr2 34482235 34482328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 3449155 3449219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAPPC12 chr2 34495301 34499300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 34497135 34497441 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34544573 34590549 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34544574 34590666 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 34544574 34590666 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 34547637 34590120 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 34547901 34591900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 34548934 34590089 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 34548951 34591050 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 34548951 34591050 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 34549333 34590072 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 34549334 34590063 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34549550 34549650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34551022 34590197 Copy number Incontinentia Pigmenti Agilent SurePrint G6 one Million microarrays 22033527 NOT_FOUND chr2 34552819 34581359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 34552819 34581359 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34552819 34590005 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34552819 34590549 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34552819 34590549 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34552819 34590561 Copy number Alcoholism Affymetrix SNP6.0 genotyping array 22295116 NOT_FOUND chr2 34552819 34590561 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 34552819 34590561 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 34552819 34591524 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34552823 34590561 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 34553355 34585551 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr2 34554235 34582939 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 34554886 34590549 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34555117 34590549 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34555117 34590549 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34563498 34581244 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 34570262 34590549 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 34589270 34589370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34592127 52596351 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCG5,ABCG8,ARHGEF33,ATL2,ATP6V1E2,C2orf56,C2orf61,C2orf91,CALM2,CAMKMT,CCDC75,CDC42EP3,CDKL4,CEBPZ,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DYNC2LI1,EIF2AK2,EML4,EPAS1,EPCAM,FAM82A1,FBXO11,FEZ2,FOXN2,FSHR,GALM,GEMIN6,GTF2A1L,HAAO,HEATR5B,HNRPLL,KCNG3,KCNK12,LHCGR,LOC100129726,LOC100134259,LOC100288911,LOC100505876,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,MAP4K3,MCFD2,MIR548AD,MIR559,MORN2,MSH2,MSH6,MTA3,NRXN1,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PPP1R21,PREPL,PRKCE,PRKD3,QPCT,RHOQ,SIX2,SIX3,SLC3A1,SLC8A1,SLC8A1-AS1,SOCS5,SOS1,SRBD1,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,THADA,THUMPD2,TMEM178A,TMEM247,TTC7A,UNQ6975,VIT,ZFP36L2 chr2 34597269 34649310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 34599058 88825994 Copy number Lung cancer paired-end sequencing 18438408 AAK1,ABCG5,ABCG8,ACTG2,ACTR2,ACYP2,ADD2,AFTPH,AHSA2,ALMS1,ALMS1P,ANAPC1P1,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ARHGEF33,ASB3,ASPRV1,ATL2,ATOH8,ATP6V1B1,ATP6V1E2,AUP1,B3GNT2,BCL11A,BMP10,BOLA3,BOLA3-AS1,C1D,C2orf42,C2orf56,C2orf61,C2orf65,C2orf68,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CALM2,CAMKMT,CAPG,CCDC104,CCDC142,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CEP68,CHAC2,CHMP3,CLEC4F,CLHC1,CNRIP1,COMMD1,COX7A2L,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,DBIL5P2,DCTN1,DCTN1-AS1,DGUOK,DHX57,DNAH6,DOK1,DQX1,DUSP11,DYNC2LI1,DYSF,EFEMP1,EGR4,EHBP1,EIF2AK2,ELMOD3,EML4,EML6,EMX1,EPAS1,EPCAM,ERLEC1,ETAA1,EXOC6B,FABP1,FAM136A,FAM161A,FAM176A,FAM82A1,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FLJ16341,FLJ30838,FOXI3,FOXN2,FSHR,FUNDC2P2,GALM,GCFC2,GEMIN6,GFPT1,GGCX,GKN1,GKN2,GMCL1,GNLY,GPR75,GPR75-ASB3,GTF2A1L,HAAO,HEATR5B,HK2,HNRPLL,HTRA2,IMMT,INO80B,INO80B-WBP1,KCMF1,KCNG3,KCNK12,KDM3A,KIAA1841,KRCC1,LBX2,LBX2-AS1,LGALSL,LHCGR,LINC00152,LINC00309,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100288911,LOC100505876,LOC100630918,LOC1720,LOC284950,LOC285074,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC644838,LOC728730,LOC728819,LOC90784,LOXL3,LRPPRC,LRRTM1,LRRTM4,MAP4K3,MAT2A,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MIR216A,MIR216B,MIR217,MIR3126,MIR3682,MIR4264,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MRPL19,MRPL35,MRPL53,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,NRXN1,OR7E91P,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PELI1,PEX13,PIGF,PKDCC,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,PPM1B,PPP1R21,PPP3R1,PRADC1,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PUS10,QPCT,RAB11FIP5,RAB1A,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOQ,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPL23AP32,RPS27A,RTKN,RTN4,SEMA4F,SERTAD2,SFTPB,SFXN5,SH2D6,SIX2,SIX3,SLC1A4,SLC3A1,SLC4A5,SLC8A1,SLC8A1-AS1,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORD94,SNRNP27,SNRPG,SOCS5,SOS1,SPR,SPRED2,SPTBN1,SRBD1,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,TACR1,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM247,TMSB10,TPRKB,TRABD2A,TSPYL6,TTC31,TTC7A,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,WBP1,WDPCP,WDR54,WDR92,XPO1,ZFP36L2,ZNF638 chr2 34600697 34601090 Gain Normal 244K array 17666407 NOT_FOUND chr2 34602062 34648173 Loss Normal 244K array 17666407 NOT_FOUND chr2 34604407 34654452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 34651114 34655080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34680713 34682789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34682334 34682592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34686433 34730578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 34689556 34689656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34736472 34736572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34801831 34801926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 3480698 3502306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADI1,TRAPPC12 chr2 3480698 3502306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADI1,TRAPPC12 chr2 3481042 3883857 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADI1,ALLC,COLEC11,LOC100506054,RNASEH1,RPS7,TRAPPC12 chr2 34819233 34820767 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34843990 34844090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 34860750 34861329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34887942 34888186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 34917577 34920174 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 35063329 35063429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35073539 35073638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35130091 35130162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35149394 35316635 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 35167990 35168090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35297947 35298174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 35347833 35347933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35365524 35586868 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-322K arrays 21546498 NOT_FOUND chr2 35402609 35403826 Loss Normal 244K array 17666407 NOT_FOUND chr2 35422641 35422699 Loss Normal 244K array 17666407 NOT_FOUND chr2 35434889 35469984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 35465261 36221294 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 35472761 35533640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35483040 35583874 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 35485265 35485365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35487170 35549751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35528137 35528237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35541692 35637550 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 35550175 35550278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 35550286 35550411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 35608322 35608425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 35625771 35625823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 35653641 36577928 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 35680054 35938902 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-342K arrays 21546498 NOT_FOUND chr2 35682577 38247867 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf56,CCDC75,CDC42EP3,CEBPZ,CRIM1,EIF2AK2,FAM82A1,FEZ2,HEATR5B,LOC100288911,LOC100505876,PRKD3,QPCT,STRN,SULT6B1,VIT chr2 35693147 35693231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 3570568 3583815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 3570568 3583815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 35712506 35757393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35718256 35721951 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 35734672 35997258 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr2 35752324 35752416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 3576872 3585867 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 3576872 3585867 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 35775323 35798741 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35775617 35943739 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 35775617 36031232 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 35778503 35778603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35787278 35841451 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 35799256 35799288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35803329 35803712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 35803735 35831293 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 35820627 35841439 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 35820627 35841451 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 35820877 35841439 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 35820889 35841451 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 35821529 35850976 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 35824160 35849416 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 35824160 35849416 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 35824160 35872316 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 35828572 35850571 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr2 35828722 35849416 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 35828722 35849416 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 35831294 35841451 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 35831294 35841451 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 35852698 36213709 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 35875231 35935546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35878739 35911728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35879149 35879355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35879291 35879354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 35880837 35923620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35882032 35910570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35884974 35941505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 35899431 35902465 Loss Normal 244K array 17666407 NOT_FOUND chr2 35900000 215100000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AAK1,ABCB11,ABCG5,ABCG8,ABI2,ACADL,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM23,ADD2,ADRA2B,AFF3,AFTPH,AGPS,AHSA2,ALMS1,ALMS1P,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANTXR1,ANXA4,AOX1,AOX2P,APLF,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASB3,ASNSD1,ASPRV1,ASTL,ATF2,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1E2,AUP1,B3GALT1,B3GNT2,BAZ2B,BBS5,BCL11A,BCL2L11,BIN1,BMP10,BMPR2,BOLA3,BOLA3-AS1,BOLL,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf47,C2orf49,C2orf56,C2orf61,C2orf65,C2orf66,C2orf68,C2orf69,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf88,C2orf91,CACNB4,CALCRL,CALM2,CAMKMT,CAPG,CASP10,CASP8,CBWD2,CCDC104,CCDC115,CCDC138,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDKL4,CEBPZ,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHAC2,CHCHD5,CHMP3,CHN1,CHRNA1,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLK1,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL5A2,COMMD1,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRIM1,CRIPT,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTLA4,CTNNA2,CWC22,CXCR4,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DFNB59,DGUOK,DHRS9,DHX57,DIRC1,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJC10,DOK1,DPP10,DPP4,DQX1,DUSP11,DUSP19,DUSP2,DYNC1I2,DYNC2LI1,DYSF,DYTN,EDAR,EEF1B2,EFEMP1,EGR4,EHBP1,EIF2AK2,EIF2AK3,EIF5B,ELMOD3,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,ERBB4,ERCC3,ERLEC1,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM126B,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM82A1,FANCL,FAP,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FMNL2,FONG,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GALM,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GCSHP3,GEMIN6,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GLS,GMCL1,GNLY,GORASP2,GPAT2,GPD2,GPR1,GPR148,GPR155,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C3,GULP1,GYPC,HAAO,HAT1,HEATR5B,HECW2,HIBCH,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTRA2,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INSIG2,ITGA4,ITGA6,ITGAV,ITGB6,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF5C,KLF7,KLHL23,KRCC1,KYNU,LANCL1,LBX2,LBX2-AS1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LIPT1,LMAN2L,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505695,LOC100505876,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC151009,LOC1720,LOC200726,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC728730,LOC728819,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRPPRC,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFSD6,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR216A,MIR216B,MIR217,MIR2355,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3606,MIR3679,MIR3682,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR548F2,MIR548N,MIR559,MIR561,MIR5696,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOB4,MOGS,MORN2,MPHOSPH10,MPP4,MRPL19,MRPL30,MRPL35,MRPL53,MRPS5,MRPS9,MSH2,MSH6,MSTN,MTA3,MTHFD2,MTIF2,MTX2,MXD1,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NDUFB3,NDUFS1,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NIF3L1,NMI,NMS,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRP2,NRXN1,NUP35,NXPH2,OLA1,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCL3,PDE11A,PDE1A,PDK1,PELI1,PEX13,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PIGF,PIKFYVE,PKDCC,PKP4,PLA2R1,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PPIG,PPIL3,PPM1B,PPP1R1C,PPP1R21,PPP3R1,PRADC1,PREPL,PRKCE,PRKD3,PRKRA,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTH2R,PTPN18,PTPN4,PUS10,QPCT,R3HDM1,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOQ,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPRM,RPS27A,RTKN,RTN4,SAP130,SATB2,SATB2-AS1,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEMA4F,SEPT10,SERTAD2,SESTD1,SF3B1,SFT2D3,SFTPB,SFXN5,SGOL2,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC1A4,SLC20A1,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A5,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORD11,SNORD11B,SNORD51,SNORD70,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOCS5,SOS1,SOWAHC,SP3,SP5,SP9,SPAG16,SPATS2L,SPC25,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK17B,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLK1,TLX2,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM178A,TMEM182,TMEM185B,TMEM194B,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TPRKB,TRABD2A,TRAK2,TRIM43,TRIM43B,TSGA10,TSN,TSPYL6,TTC21B,TTC30A,TTC30B,TTC31,TTC7A,TTL,TTN,TTN-AS1,TUBA3D,TUBA3E,TXNDC9,TYW5,UBE2E3,UBR3,UBXN4,UGGT1,UGP2,UNC50,UNC80,UNQ6975,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VWA3B,WASH2P,WBP1,WDPCP,WDR12,WDR33,WDR54,WDR75,WDR92,WDSUB1,WIPF1,WTH3DI,XIRP2,XPO1,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFP36L2,ZNF2,ZNF385B,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 35900000 230700000 Copy number Cancer ICA method 16751803 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM23,ADD2,ADRA2B,AFF3,AFTPH,AGFG1,AGPS,AHSA2,ALMS1,ALMS1P,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ARPC2,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ATF2,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1E2,AUP1,B3GALT1,B3GNT2,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BMP10,BMPR2,BOLA3,BOLA3-AS1,BOLL,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf47,C2orf49,C2orf56,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf83,C2orf88,C2orf91,CACNB4,CALCRL,CALM2,CAMKMT,CAPG,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COMMD1,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DES,DFNB59,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJC10,DNER,DNPEP,DOCK10,DOK1,DPP10,DPP4,DQX1,DUSP11,DUSP19,DUSP2,DYNC1I2,DYNC2LI1,DYSF,DYTN,EDAR,EEF1B2,EFEMP1,EGR4,EHBP1,EIF2AK2,EIF2AK3,EIF5B,ELMOD3,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,ERBB4,ERCC3,ERLEC1,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM82A1,FANCL,FAP,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FMNL2,FN1,FONG,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GALM,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GCSHP3,GEMIN6,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C3,GULP1,GYPC,HAAO,HAT1,HEATR5B,HECW2,HIBCH,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTRA2,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INSIG2,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF5C,KLF7,KLHL23,KRCC1,KYNU,LANCL1,LBX2,LBX2-AS1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505695,LOC100505876,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC151009,LOC1720,LOC200726,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC728730,LOC728819,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRPPRC,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR26B,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MREG,MRPL19,MRPL30,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSH2,MSH6,MSTN,MTA3,MTHFD2,MTIF2,MTX2,MXD1,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NDUFB3,NDUFS1,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NHEJ1,NIF3L1,NMI,NMS,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRP2,NRXN1,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCL3,PDE11A,PDE1A,PDK1,PECR,PELI1,PEX13,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PPIG,PPIL3,PPM1B,PPP1R1C,PPP1R21,PPP3R1,PRADC1,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTH2R,PTPN18,PTPN4,PTPRN,PUS10,QPCT,R3HDM1,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOQ,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNF25,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RQCD1,RTKN,RTN4,RUFY4,SAP130,SATB2,SATB2-AS1,SCG2,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEMA4F,SEPT10,SERPINE2,SERTAD2,SESTD1,SF3B1,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC11A1,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A3,SLC4A5,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORD11,SNORD11B,SNORD51,SNORD70,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOCS5,SOS1,SOWAHC,SP3,SP5,SP9,SPAG16,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TPRKB,TRABD2A,TRAK2,TRIM43,TRIM43B,TRIP12,TSGA10,TSN,TSPYL6,TTC21B,TTC30A,TTC30B,TTC31,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TXNDC9,TYW5,UBE2E3,UBR3,UBXN4,UGGT1,UGP2,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XPO1,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 35900000 242951149 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM23,ADD2,ADRA2B,AFF3,AFTPH,AGAP1,AGFG1,AGPS,AGXT,AHSA2,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1E2,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf47,C2orf49,C2orf54,C2orf56,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDK15,CDK5R2,CDKL4,CEBPZ,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRIM1,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP1B1,CYP1B1-AS1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DHX57,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DOK1,DPP10,DPP4,DQX1,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EGR4,EHBP1,EIF2AK2,EIF2AK3,EIF4E2,EIF5B,ELMOD3,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM82A1,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FEZ2,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALM,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCSHP3,GEMIN6,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C3,GULP1,GYPC,HAAO,HAT1,HDAC4,HDLBP,HEATR5B,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KRCC1,KYNU,LANCL1,LBX2,LBX2-AS1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505695,LOC100505876,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC348761,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC728730,LOC728819,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K3,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MORN2,MPHOSPH10,MPP4,MREG,MRPL19,MRPL30,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NRXN1,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PELI1,PER2,PEX13,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PRADC1,PREPL,PRKAG3,PRKCE,PRKD3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PUS10,QPCT,R3HDM1,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOQ,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RQCD1,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A3,SLC4A5,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOCS5,SOS1,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,THUMPD2,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM178A,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TSPYL6,TTC21B,TTC30A,TTC30B,TTC31,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VIT,VPS54,VRK2,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XPO1,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 35900000 49691432 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ABCG5,ABCG8,ARHGEF33,ATL2,ATP6V1E2,C2orf56,C2orf61,C2orf91,CALM2,CAMKMT,CCDC75,CDC42EP3,CDKL4,CEBPZ,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DYNC2LI1,EIF2AK2,EML4,EPAS1,EPCAM,FAM82A1,FBXO11,FEZ2,FOXN2,FSHR,GALM,GEMIN6,GTF2A1L,HAAO,HEATR5B,HNRPLL,KCNG3,KCNK12,LHCGR,LOC100129726,LOC100134259,LOC100288911,LOC100505876,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,MAP4K3,MCFD2,MIR548AD,MIR559,MORN2,MSH2,MSH6,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PPP1R21,PREPL,PRKCE,PRKD3,QPCT,RHOQ,SIX2,SIX3,SLC3A1,SLC8A1,SLC8A1-AS1,SOCS5,SOS1,SRBD1,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,THADA,THUMPD2,TMEM178A,TMEM247,TTC7A,UNQ6975,VIT,ZFP36L2 chr2 35944012 35944331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 35953110 35953210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 3600727 3606384 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 LOC100506054,RNASEH1 chr2 3600728 3606384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506054,RNASEH1 chr2 3600728 3606384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506054,RNASEH1 chr2 36099906 36099999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36102648 36141478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 36155103 36502309 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 36185341 36189099 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 36189099 36189110 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 36189110 36190123 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 36190123 36193058 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 3620420 3669911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COLEC11,RPS7 chr2 3620420 3669911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COLEC11,RPS7 chr2 3620511 3669922 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 COLEC11,RPS7 chr2 36222253 36260720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 36235995 36276780 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 36237082 36237182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36243400 36260080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 36248415 36248511 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 36263684 36263792 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 36263684 36264162 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 36263684 36264490 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr2 36263684 36264490 Deletion Non-syndromic sensorineural hearing loss 370K1 19587683 NOT_FOUND chr2 36295590 36295690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36308854 36308943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 363359 32208994 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABHD1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00487,LINC00570,LOC100505624,LOC100505716,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,PXDN,RAB10,RAD51AP2,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SLC30A3,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPDYA,SRD5A2,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 36354888 36354968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36380035 36380477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 36400000 38400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C2orf56,CCDC75,CDC42EP3,CEBPZ,CRIM1,CYP1B1,CYP1B1-AS1,EIF2AK2,FAM82A1,FEZ2,HEATR5B,LOC100288911,LOC100505876,PRKD3,QPCT,STRN,SULT6B1,VIT chr2 3640401 3670562 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COLEC11 chr2 3643013 3643147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COLEC11 chr2 36436901 36631781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRIM1,LOC100288911 chr2 36436901 36631781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRIM1,LOC100288911 chr2 36452226 36452326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36457301 36938000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRIM1,FEZ2,LOC100288911,VIT chr2 36476569 36507382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 36476613 36486917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 36479582 36485679 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr2 36480381 36487664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 36495048 36689928 Gain and loss Pancreatic cancer SNP array 17952125 CRIM1,LOC100288911 chr2 36495048 36689929 Deletion T-cell lymphomas Array-CGH 22341440 CRIM1,LOC100288911 chr2 36504229 36609700 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CRIM1,LOC100288911 chr2 36507441 36588930 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CRIM1,LOC100288911 chr2 36517585 36517793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36517699 36517790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36517801 36518034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36550049 36757946 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CRIM1,LOC100288911 chr2 36574723 36574823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36578907 36583861 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRIM1,LOC100288911 chr2 36585955 36586208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CRIM1 chr2 36600000 47800000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABCG5,ABCG8,ARHGEF33,ATL2,ATP6V1E2,C2orf56,C2orf61,C2orf91,CALM2,CAMKMT,CCDC75,CDC42EP3,CDKL4,CEBPZ,COX7A2L,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,DHX57,DYNC2LI1,EIF2AK2,EML4,EPAS1,EPCAM,FAM82A1,FEZ2,GALM,GEMIN6,HAAO,HEATR5B,HNRPLL,KCNG3,KCNK12,LOC100129726,LOC100134259,LOC100505876,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,MAP4K3,MCFD2,MIR548AD,MIR559,MORN2,MSH2,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,PRKD3,QPCT,RHOQ,SIX2,SIX3,SLC3A1,SLC8A1,SLC8A1-AS1,SOCS5,SOS1,SRBD1,SRSF7,STRN,SULT6B1,THADA,THUMPD2,TMEM178A,TMEM247,TTC7A,UNQ6975,VIT,ZFP36L2 chr2 36612452 36632915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRIM1 chr2 36629012 36678836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRIM1 chr2 36629012 36678836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRIM1 chr2 36642430 36642530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRIM1 chr2 36647120 36647205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRIM1 chr2 36670747 36670901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRIM1 chr2 36689610 36694161 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 CRIM1 chr2 36691052 36736886 Deletion T-cell lymphomas Array-CGH 22341440 CRIM1 chr2 36691057 36736934 Gain and loss Pancreatic cancer SNP array 17952125 CRIM1 chr2 36728894 36729048 Gain and loss Pancreatic cancer SNP array 17952125 CRIM1 chr2 36734641 36759822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRIM1 chr2 36739238 37562488 LOH Normal High-resolution SNP genotyping 21211785 C2orf56,CCDC75,CEBPZ,CRIM1,EIF2AK2,FEZ2,HEATR5B,LOC100505876,PRKD3,STRN,SULT6B1,VIT chr2 36752396 37878915 LOH Normal High-resolution SNP genotyping 21211785 C2orf56,CCDC75,CDC42EP3,CEBPZ,CRIM1,EIF2AK2,FEZ2,HEATR5B,LOC100505876,PRKD3,QPCT,STRN,SULT6B1,VIT chr2 36777411 36895433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRIM1,FEZ2 chr2 36777411 36895433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRIM1,FEZ2 chr2 36808813 36808913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FEZ2 chr2 36809165 36809480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FEZ2 chr2 36835565 36953580 Deletion T-cell lymphomas Array-CGH 22341440 VIT chr2 3683660 3728136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALLC,COLEC11 chr2 3683660 3728136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALLC,COLEC11 chr2 36839875 36844580 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 36863784 36863831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36890558 36890658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 36927201 36972083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VIT chr2 36928976 37047119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VIT chr2 36928976 37047119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VIT chr2 36938119 36938219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VIT chr2 36948045 36948146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VIT chr2 36987811 37105266 Gain and loss Pancreatic cancer SNP array 17952125 STRN,VIT chr2 36987814 37105266 Deletion T-cell lymphomas Array-CGH 22341440 STRN,VIT chr2 37006192 37006293 Gain and loss Pancreatic cancer SNP array 17952125 VIT chr2 3704605 3720541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALLC chr2 3704928 3717843 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALLC chr2 37061657 37164989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STRN chr2 37061657 37164989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STRN chr2 37090330 37109310 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 STRN chr2 37099771 37099856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STRN chr2 3710677 3715892 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 ALLC chr2 3710680 3715904 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ALLC chr2 3710705 3715673 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ALLC chr2 37119804 37215842 Deletion T-cell lymphomas Array-CGH 22341440 HEATR5B,STRN chr2 37119804 37223078 Gain and loss Pancreatic cancer SNP array 17952125 HEATR5B,STRN chr2 3713486 3714446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALLC chr2 37165098 37179891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STRN chr2 37165098 37179891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STRN chr2 37179857 37405184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC75,EIF2AK2,HEATR5B,STRN,SULT6B1 chr2 37179857 37405184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC75,EIF2AK2,HEATR5B,STRN,SULT6B1 chr2 3718253 3718414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALLC chr2 3718510 3718681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALLC chr2 37187202 37237614 Gain or loss Breast cancer - 20668451 HEATR5B,STRN chr2 37187202 37237614 Gain or loss Cancer - 20668451 HEATR5B,STRN chr2 37187202 37237614 Gain or loss Lung cancer - 20668451 HEATR5B,STRN chr2 37187202 37237614 Gain or loss Ovarian cancer - 20668451 HEATR5B,STRN chr2 37187202 37237614 Gain or loss Pancreas cancer - 20668451 HEATR5B,STRN chr2 37187202 37237614 Gain or loss Prostate cancer - 20668451 HEATR5B,STRN chr2 37223312 37235353 Deletion T-cell lymphomas Array-CGH 22341440 HEATR5B chr2 37223312 37235353 Gain and loss Pancreatic cancer SNP array 17952125 HEATR5B chr2 37229177 37229951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR5B chr2 37245350 37288051 Deletion T-cell lymphomas Array-CGH 22341440 HEATR5B chr2 37245352 37463331 Gain and loss Pancreatic cancer SNP array 17952125 C2orf56,CCDC75,CEBPZ,EIF2AK2,HEATR5B,LOC100505876,SULT6B1 chr2 37248467 37277245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEATR5B chr2 37248467 37277245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR5B chr2 37275029 37275384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR5B chr2 37277135 37294372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEATR5B chr2 37281942 37282042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEATR5B chr2 37282287 37312248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC75,HEATR5B chr2 37282287 37312248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC75,HEATR5B chr2 37284633 38776158 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-314K arrays 21546498 ATL2,C2orf56,CCDC75,CDC42EP3,CEBPZ,CYP1B1,CYP1B1-AS1,EIF2AK2,FAM82A1,HEATR5B,LOC100505876,PRKD3,QPCT,SULT6B1 chr2 37306729 37333531 Deletion T-cell lymphomas Array-CGH 22341440 CCDC75,EIF2AK2,HEATR5B chr2 37306735 37327425 Gain and loss Pancreatic cancer SNP array 17952125 CCDC75,HEATR5B chr2 37312129 37315485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC75 chr2 37312278 37329805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC75 chr2 37312278 37329805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC75 chr2 37331149 37398541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK2,SULT6B1 chr2 37331149 37398541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2AK2,SULT6B1 chr2 37340428 37370391 Deletion T-cell lymphomas Array-CGH 22341440 EIF2AK2 chr2 37340432 37370395 Gain and loss Pancreatic cancer SNP array 17952125 EIF2AK2 chr2 37342150 37375084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EIF2AK2 chr2 37345586 37367898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EIF2AK2 chr2 37370441 37387952 Gain and loss Pancreatic cancer SNP array 17952125 EIF2AK2 chr2 37370441 37387954 Deletion T-cell lymphomas Array-CGH 22341440 EIF2AK2 chr2 37389299 37455873 Gain and loss Pancreatic cancer SNP array 17952125 CEBPZ,LOC100505876,SULT6B1 chr2 37389420 37455873 Deletion T-cell lymphomas Array-CGH 22341440 CEBPZ,LOC100505876,SULT6B1 chr2 37390926 38758496 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATL2,C2orf56,CDC42EP3,CEBPZ,CYP1B1,CYP1B1-AS1,FAM82A1,LOC100505876,PRKD3,QPCT,SULT6B1 chr2 37412417 37412523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SULT6B1 chr2 37425241 37453968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEBPZ,LOC100505876 chr2 37425241 37453968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEBPZ,LOC100505876 chr2 37444001 38380100 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf56,CDC42EP3,CEBPZ,CYP1B1,CYP1B1-AS1,FAM82A1,PRKD3,QPCT chr2 37452349 37452449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEBPZ chr2 37456592 37456681 Gain and loss Pancreatic cancer SNP array 17952125 CEBPZ chr2 37461747 37506574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2orf56,PRKD3 chr2 37470567 37470670 Gain and loss Pancreatic cancer SNP array 17952125 C2orf56 chr2 37472048 37472455 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 C2orf56 chr2 37483433 37512115 Gain and loss Pancreatic cancer SNP array 17952125 PRKD3 chr2 37483515 37512116 Deletion T-cell lymphomas Array-CGH 22341440 PRKD3 chr2 37486318 37519337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKD3 chr2 37498320 37498635 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 PRKD3 chr2 37516161 37516253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKD3 chr2 37543203 37543303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKD3 chr2 37574308 37574400 Gain and loss Pancreatic cancer SNP array 17952125 QPCT chr2 376145 38371019 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABHD1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CRIM1,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FEZ2,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HEATR5B,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00487,LINC00570,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,LTBP1,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR558,MPV17,MRPL33,MSGN1,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PRKD3,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPAST,SPDYA,SRD5A2,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC27,TTC32,UBXN2A,UCN,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 37642966 37643055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 37643824 37643915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 37671995 37706119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 37705 76644 Gain Normal Birdsuite, version 1.5.2 22087296 FAM110C chr2 37708305 38050590 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDC42EP3 chr2 37719820 38050590 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CDC42EP3 chr2 37724247 37752830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 37724247 37752830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 3778044 3794876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 37782394 37810977 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 37782394 37810977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 37795822 37795882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 37811156 37856685 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 37811582 37859388 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 37840945 37842354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 37848455 37848513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 37861413 37926062 Loss or gain Normal 244K array 17666407 CDC42EP3 chr2 37863373 37863473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 37879534 43619290 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARHGEF33,ATL2,C2orf91,CDC42EP3,CDKL4,COX7A2L,CYP1B1,CYP1B1-AS1,DHX57,EML4,FAM82A1,GALM,GEMIN6,HAAO,HNRPLL,KCNG3,LOC100129726,LOC375196,LOC388942,LOC728730,MAP4K3,MORN2,MTA3,OXER1,PKDCC,SLC8A1,SLC8A1-AS1,SOS1,SRSF7,THADA,THUMPD2,TMEM178A,ZFP36L2 chr2 37884332 37884420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDC42EP3 chr2 37894416 37894471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDC42EP3 chr2 37897562 37898608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC42EP3 chr2 37906518 37906618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 37913373 37913473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 37920332 37920432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 37933100 37933200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 37948063 38482570 LOH Normal High-resolution SNP genotyping 21211785 CYP1B1,CYP1B1-AS1,FAM82A1 chr2 37955709 37956755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 37977189 39737340 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF33,ATL2,CDKL4,CYP1B1,CYP1B1-AS1,DHX57,FAM82A1,GALM,GEMIN6,HNRPLL,LOC375196,LOC728730,MAP4K3,MORN2,SOS1,SRSF7 chr2 3799001 3802900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 3799664 3799744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38005934 38147784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 38005934 38147784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 3803435 3803558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 38038983 38040624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 38064113 38205931 Gain and loss Pancreatic cancer SNP array 17952125 FAM82A1 chr2 38140854 38140944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38148250 38156796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM82A1 chr2 38148250 38156796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM82A1 chr2 38155001 38157500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM82A1 chr2 38171521 38171573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM82A1 chr2 3817989 3818089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 3818 24930735 Substitutions and indels small cell lung cancer array-CGH 20016488 ACP1,ADAM17,ADI1,ALLC,APOB,ASAP2,ATAD2B,ATP6V1C2,C2orf43,C2orf44,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,DDX1,E2F6,FAM110C,FAM150B,FAM228A,FAM228B,FAM49A,FAM84A,FKBP1B,FLJ12334,FLJ33534,GDF7,GEN1,GREB1,GRHL1,HPCAL1,HS1BP3,IAH1,ID2,ITGB1BP1,ITSN2,KCNF1,KCNS3,KIDINS220,KLF11,KLHL29,LAPTM4A,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MATN3,MBOAT2,MFSD2B,MIR3125,MIR4261,MIR4262,MIR4429,MIR4757,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NOL10,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,PDIA6,PFN4,PQLC3,PUM2,PXDN,RAD51AP2,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SMC6,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TP53I3,TPO,TRAPPC12,TRIB2,TSSC1,TTC32,UBXN2A,VSNL1,WDR35,YWHAQ chr2 38206397 38214943 Deletion T-cell lymphomas Array-CGH 22341440 FAM82A1 chr2 38206397 38214943 Gain and loss Pancreatic cancer SNP array 17952125 FAM82A1 chr2 38228061 38228167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM82A1 chr2 3826071 3826327 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 38269898 38320639 Gain and loss Pancreatic cancer SNP array 17952125 CYP1B1,FAM82A1 chr2 38281096 38298139 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 CYP1B1,FAM82A1 chr2 38286208 38286313 Gain and loss Pancreatic cancer SNP array 17952125 FAM82A1 chr2 38286208 38286314 Gain and loss Pancreatic cancer SNP array 17952125 FAM82A1 chr2 3829403 5544379 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-366K arrays 21546498 LOC100505964,LOC727982 chr2 38298139 38306935 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 CYP1B1 chr2 38312214 38312960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 38320638 38351671 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 38356384 38356484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38356504 38356588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38366056 38367062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP1B1-AS1 chr2 38370382 38371110 Gain and loss Pancreatic cancer SNP array 17952125 CYP1B1-AS1 chr2 38375539 38457931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP1B1-AS1 chr2 38375539 38457931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP1B1-AS1 chr2 38400000 41600000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ARHGEF33,ATL2,CDKL4,CYP1B1-AS1,DHX57,GALM,GEMIN6,HNRPLL,LOC375196,LOC728730,MAP4K3,MORN2,SLC8A1,SLC8A1-AS1,SOS1,SRSF7,THUMPD2,TMEM178A chr2 38406270 38406381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CYP1B1-AS1 chr2 38421421 39356423 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ARHGEF33,ATL2,DHX57,GALM,GEMIN6,HNRPLL,LOC375196,MORN2,SOS1,SRSF7 chr2 38424203 38425209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 38434775 38516066 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 38434775 38516066 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 38468198 39035333 LOH Normal High-resolution SNP genotyping 21211785 ATL2,DHX57,GALM,GEMIN6,HNRPLL,SRSF7 chr2 38486664 38486782 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 38558998 38566075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATL2 chr2 38568004 38568107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATL2 chr2 38583144 39690249 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF33,ATL2,CDKL4,DHX57,GALM,GEMIN6,HNRPLL,LOC375196,LOC728730,MAP4K3,MORN2,SOS1,SRSF7 chr2 38584787 39929133 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF33,ATL2,CDKL4,DHX57,GALM,GEMIN6,HNRPLL,LOC375196,LOC728730,MAP4K3,MORN2,SOS1,SRSF7,TMEM178A chr2 38600000 61300000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCG5,ABCG8,ACYP2,ARHGEF33,ASB3,ATL2,ATP6V1E2,BCL11A,C2orf61,C2orf73,C2orf91,CALM2,CAMKMT,CCDC104,CCDC85A,CCDC88A,CDKL4,CHAC2,CLHC1,COX7A2L,CRIPT,DHX57,DYNC2LI1,EFEMP1,EML4,EML6,EPAS1,EPCAM,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GALM,GEMIN6,GPR75,GPR75-ASB3,GTF2A1L,HAAO,HNRPLL,KCNG3,KCNK12,KIAA1841,LHCGR,LOC100129726,LOC100134259,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,MAP4K3,MCFD2,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR548AD,MIR559,MORN2,MSH2,MSH6,MTA3,MTIF2,NRXN1,OXER1,PAPOLG,PEX13,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRORSD1P,PSME4,PUS10,REL,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC3A1,SLC8A1,SLC8A1-AS1,SMEK2,SOCS5,SOS1,SPTBN1,SRBD1,SRSF7,STON1,STON1-GTF2A1L,THADA,THUMPD2,TMEM178A,TMEM247,TSPYL6,TTC7A,UNQ6975,VRK2,ZFP36L2 chr2 38615897 38615977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38620584 38621663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 3863088 3863205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 3863091 3863208 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 38642624 38683675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 38642624 38683675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 38665856 38665956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38671122 38696965 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 38684566 46583071 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCG5,ABCG8,ARHGEF33,C2orf91,CAMKMT,CDKL4,COX7A2L,DHX57,DYNC2LI1,EML4,EPAS1,GALM,GEMIN6,HAAO,HNRPLL,KCNG3,LOC100129726,LOC375196,LOC388942,LOC728730,LOC728819,LRPPRC,MAP4K3,MIR548AD,MORN2,MTA3,OXER1,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,SIX2,SIX3,SLC3A1,SLC8A1,SLC8A1-AS1,SOS1,SRBD1,SRSF7,THADA,THUMPD2,TMEM178A,UNQ6975,ZFP36L2 chr2 38693054 38693146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38700636 38729291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 38702828 38741675 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 38702828 38741722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 38704924 38705232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 3870824 3870924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38727303 38730104 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 38746743 38815029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRPLL chr2 38746743 38815029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRPLL chr2 38787061 38873176 Gain and loss Pancreatic cancer SNP array 17952125 HNRPLL chr2 38804890 38873196 Deletion T-cell lymphomas Array-CGH 22341440 HNRPLL chr2 38809041 38826440 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 HNRPLL chr2 38809366 38825785 Gain Normal Birdsuite, version 1.5.2 22087296 HNRPLL chr2 388100 388155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 38824247 38832005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HNRPLL chr2 38824247 38832005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HNRPLL chr2 38832180 38862611 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 38832180 38862611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 38878382 38956525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALM chr2 38878382 38956525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALM chr2 38882394 38890102 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 38882394 38890152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 38902648 38904008 Gain and loss Pancreatic cancer SNP array 17952125 GALM chr2 38916978 38920755 Gain and loss Pancreatic cancer SNP array 17952125 GALM chr2 38916978 38920758 Deletion T-cell lymphomas Array-CGH 22341440 GALM chr2 38923201 38926800 Deletion Glioma mate-paired sequence 20126413 GALM chr2 38924982 38925323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALM chr2 38936522 39014672 Deletion T-cell lymphomas Array-CGH 22341440 GALM,GEMIN6,SRSF7 chr2 38936529 39014980 Gain and loss Pancreatic cancer SNP array 17952125 GALM,GEMIN6,SRSF7 chr2 38956636 38963342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALM chr2 38956636 38963342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALM chr2 38965205 38965311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 38970525 39056094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHX57,GEMIN6,SRSF7 chr2 38970525 39056094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX57,GEMIN6,SRSF7 chr2 38977419 39023522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GEMIN6,SRSF7 chr2 39014754 39021440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 39023355 39023458 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 39035333 39213947 Copy number gain Normal High-resolution SNP genotyping 21211785 ARHGEF33,DHX57,LOC375196,MORN2,SOS1 chr2 39039934 39040989 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 DHX57 chr2 3905749 3905849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 39062193 39201108 Gain or loss Breast cancer - 20668451 ARHGEF33,DHX57,LOC375196,MORN2 chr2 39062193 39201108 Gain or loss Cancer - 20668451 ARHGEF33,DHX57,LOC375196,MORN2 chr2 39062193 39201108 Gain or loss Lung cancer - 20668451 ARHGEF33,DHX57,LOC375196,MORN2 chr2 39062193 39201108 Gain or loss Ovarian cancer - 20668451 ARHGEF33,DHX57,LOC375196,MORN2 chr2 39062193 39201108 Gain or loss Pancreas cancer - 20668451 ARHGEF33,DHX57,LOC375196,MORN2 chr2 39062193 39201108 Gain or loss Prostate cancer - 20668451 ARHGEF33,DHX57,LOC375196,MORN2 chr2 39065418 57300955 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCG5,ABCG8,ACYP2,ARHGEF33,ASB3,ATP6V1E2,C2orf61,C2orf73,C2orf91,CALM2,CAMKMT,CCDC104,CCDC85A,CCDC88A,CDKL4,CHAC2,CLHC1,COX7A2L,CRIPT,DHX57,DYNC2LI1,EFEMP1,EML4,EML6,EPAS1,EPCAM,ERLEC1,FBXO11,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,HAAO,KCNG3,KCNK12,LHCGR,LOC100129726,LOC100134259,LOC375196,LOC388942,LOC388948,LOC728730,LOC728819,LRPPRC,MAP4K3,MCFD2,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR548AD,MIR559,MORN2,MSH2,MSH6,MTA3,MTIF2,NRXN1,OXER1,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRORSD1P,PSME4,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC3A1,SLC8A1,SLC8A1-AS1,SMEK2,SOCS5,SOS1,SPTBN1,SRBD1,STON1,STON1-GTF2A1L,THADA,THUMPD2,TMEM178A,TMEM247,TSPYL6,TTC7A,UNQ6975,ZFP36L2 chr2 39066331 39201696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF33,DHX57,LOC375196,MORN2 chr2 39066331 39201696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF33,DHX57,LOC375196,MORN2 chr2 39068519 39095822 Gain and loss Pancreatic cancer SNP array 17952125 DHX57 chr2 39098415 39099134 Gain and loss Pancreatic cancer SNP array 17952125 DHX57 chr2 39124616 39259214 Deletion T-cell lymphomas Array-CGH 22341440 ARHGEF33,LOC375196,SOS1 chr2 39124616 39259214 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF33,LOC375196,SOS1 chr2 39152334 40035896 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF33,CDKL4,LOC375196,LOC728730,MAP4K3,SOS1,THUMPD2,TMEM178A chr2 39152334 42009710 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF33,CDKL4,LOC375196,LOC728730,MAP4K3,SLC8A1,SLC8A1-AS1,SOS1,THUMPD2,TMEM178A chr2 39163234 39163337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF33 chr2 3920108 39062194 Copy number Autism exome sequencing 22495311 ABHD1,ADAM17,ADCY3,AGBL5,ALK,APOB,ASAP2,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,CPSF3,CRIM1,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FEZ2,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00487,LINC00570,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC400940,LOC645949,LOC727982,LPIN1,LTBP1,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR558,MPV17,MRPL33,MSGN1,MYADML,MYCN,MYCNOS,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PRKD3,PTRHD1,PUM2,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SDC1,SF3B14,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNX17,SOX11,SPAST,SPDYA,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,TMEM214,TP53I3,TRIB2,TRIM54,TRMT61B,TTC27,TTC32,UBXN2A,UCN,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 39209471 39209572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOS1 chr2 39213947 39766369 LOH Normal High-resolution SNP genotyping 21211785 CDKL4,LOC728730,MAP4K3,SOS1 chr2 39221381 39221485 Gain and loss Pancreatic cancer SNP array 17952125 SOS1 chr2 39222408 39222508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOS1 chr2 39242822 39242922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOS1 chr2 39259192 39310177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOS1 chr2 39259192 39310177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOS1 chr2 39263358 39317562 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SOS1 chr2 39267620 39267719 Gain and loss Pancreatic cancer SNP array 17952125 SOS1 chr2 39267621 39267719 Gain and loss Pancreatic cancer SNP array 17952125 SOS1 chr2 39284415 39284565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOS1 chr2 393000 671000 Gain Idiopathic neurodevelopmental disorder MLPA,aCGH 21092253 TMEM18 chr2 39315148 39315334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOS1 chr2 39317799 39385310 Deletion T-cell lymphomas Array-CGH 22341440 SOS1 chr2 3932496 3932591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 39329930 39517797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDKL4,MAP4K3,SOS1 chr2 39329930 39517797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDKL4,MAP4K3,SOS1 chr2 39360833 39581935 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CDKL4,MAP4K3 chr2 39380292 39425451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDKL4 chr2 39388074 39575870 Deletion T-cell lymphomas Array-CGH 22341440 CDKL4,MAP4K3 chr2 39388077 39575944 Gain and loss Pancreatic cancer SNP array 17952125 CDKL4,MAP4K3 chr2 39406089 39528843 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CDKL4,MAP4K3 chr2 39443916 39479029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CDKL4,MAP4K3 chr2 39493490 39493575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP4K3 chr2 39532341 39532409 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K3 chr2 39549284 39549443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP4K3 chr2 39554872 39599666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAP4K3 chr2 39565822 39566454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAP4K3 chr2 39568835 39569088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4K3 chr2 39626982 39627235 Gain and loss Pancreatic cancer SNP array 17952125 MAP4K3 chr2 39697303 39697403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC728730 chr2 39746563 39798605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728730 chr2 39746563 39798605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728730 chr2 39804710 39856752 Gain and loss Pancreatic cancer SNP array 17952125 LOC728730 chr2 39804741 39856754 Deletion T-cell lymphomas Array-CGH 22341440 LOC728730 chr2 39816951 39859886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728730 chr2 39816951 39859886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728730 chr2 39857068 39857164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 39875096 39918028 Deletion T-cell lymphomas Array-CGH 22341440 TMEM178A chr2 39875098 39918028 Gain and loss Pancreatic cancer SNP array 17952125 TMEM178A chr2 39900032 39944939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM178A chr2 39913944 40416069 LOH Normal High-resolution SNP genotyping 21211785 SLC8A1,SLC8A1-AS1,THUMPD2,TMEM178A chr2 39913944 40418889 LOH Normal High-resolution SNP genotyping 21211785 SLC8A1,SLC8A1-AS1,THUMPD2,TMEM178A chr2 39919001 39920500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMEM178A chr2 39953233 39953308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 39958787 39958882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 40004496 40004596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THUMPD2 chr2 40009754 40010642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 40049674 40049774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 40051950 242717659 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABCG5,ABCG8,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM23,ADD2,ADRA2B,AFF3,AFTPH,AGAP1,AGFG1,AGPS,AGXT,AHSA2,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATOH8,ATP5G3,ATP6V1B1,ATP6V1E2,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf47,C2orf49,C2orf54,C2orf57,C2orf61,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,C2orf91,CAB39,CACNB4,CALCRL,CALM2,CAMKMT,CAPG,CAPN10,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDCA7,CDK15,CDK5R2,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COMMD1,COPS7B,COPS8,COQ10B,COX5B,COX7A2L,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRIPT,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CYBRD1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DOK1,DPP10,DPP4,DQX1,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYNC2LI1,DYSF,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EGR4,EHBP1,EIF2AK3,EIF4E2,EIF5B,ELMOD3,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPHA4,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO11,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCSHP3,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C3,GULP1,GYPC,HAAO,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNG3,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCNK12,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KRCC1,KYNU,LANCL1,LBX2,LBX2-AS1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129726,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC348761,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC728819,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRPPRC,LRRFIP1,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCEE,MCFD2,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AD,MIR548AR,MIR548F2,MIR548N,MIR559,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MPHOSPH10,MPP4,MREG,MRPL19,MRPL30,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSH2,MSH6,MSL3P1,MSTN,MTA3,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NRXN1,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PELI1,PER2,PEX13,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIGF,PIKFYVE,PKDCC,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPM1B,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PRADC1,PREPL,PRKAG3,PRKCE,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PUS10,R3HDM1,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RHOQ,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RQCD1,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC3A1,SLC40A1,SLC4A10,SLC4A3,SLC4A5,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMARCAL1,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOCS5,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SRBD1,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THADA,THAP4,THNSL2,THSD7B,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TSPYL6,TTC21B,TTC30A,TTC30B,TTC31,TTC7A,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UNQ6975,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VPS54,VRK2,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XPO1,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZFP36L2,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 40082308 40115001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 40097880 40097980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 40141745 40141839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 40145250 40145385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC8A1-AS1 chr2 40183155 40183239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1-AS1 chr2 40192790 40691697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC8A1,SLC8A1-AS1 chr2 40192790 40691697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC8A1,SLC8A1-AS1 chr2 40195109 40479840 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SLC8A1,SLC8A1-AS1 chr2 40200748 57361886 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ABCG5,ABCG8,ACYP2,ASB3,ATP6V1E2,C2orf61,C2orf73,C2orf91,CALM2,CAMKMT,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,COX7A2L,CRIPT,DYNC2LI1,EFEMP1,EML4,EML6,EPAS1,EPCAM,ERLEC1,FBXO11,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,HAAO,KCNG3,KCNK12,LHCGR,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR548AD,MIR559,MSH2,MSH6,MTA3,MTIF2,NRXN1,OXER1,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRORSD1P,PSME4,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC3A1,SLC8A1,SLC8A1-AS1,SMEK2,SOCS5,SPTBN1,SRBD1,STON1,STON1-GTF2A1L,THADA,TMEM247,TSPYL6,TTC7A,UNQ6975,ZFP36L2 chr2 40243931 40976922 LOH Normal High-resolution SNP genotyping 21211785 SLC8A1,SLC8A1-AS1 chr2 40243931 40977372 LOH Normal High-resolution SNP genotyping 21211785 SLC8A1,SLC8A1-AS1 chr2 40253796 40569092 Deletion T-cell lymphomas Array-CGH 22341440 SLC8A1,SLC8A1-AS1 chr2 40254044 40569071 Gain and loss Pancreatic cancer SNP array 17952125 SLC8A1,SLC8A1-AS1 chr2 40300451 40300577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC8A1-AS1 chr2 4032344 4065966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 40339807 40339907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1,SLC8A1-AS1 chr2 40375652 40375751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1,SLC8A1-AS1 chr2 40417546 40417642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1,SLC8A1-AS1 chr2 40451545 41054657 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SLC8A1,SLC8A1-AS1 chr2 40459598 40645427 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC8A1,SLC8A1-AS1 chr2 40465924 40468434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC8A1,SLC8A1-AS1 chr2 40488402 40488502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1 chr2 40506136 40540710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC8A1 chr2 4055163 4056015 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 40579112 40624456 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC8A1 chr2 40594665 40594764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1 chr2 40613487 40613678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1 chr2 40613673 40613773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1 chr2 40617671 40622406 Gain Normal Birdsuite, version 1.5.2 22087296 SLC8A1 chr2 40618316 40625526 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 SLC8A1 chr2 40621743 40621831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1 chr2 40655823 40655887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1 chr2 40717051 40717083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC8A1 chr2 40736000 40736062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC8A1 chr2 40780568 40802767 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 40780879 40803110 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 40782490 40782584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 40784069 40784159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4078428 4078531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 40831644 40831975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 4089176 4089271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4094870 4094945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 40985285 41019667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 40997468 40997500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41027622 41027707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41083802 41099005 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr2 41091631 41091947 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 41091871 41103797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 41091935 41099379 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 41091935 41099404 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 NOT_FOUND chr2 41091947 41096959 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 41092393 41111686 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 41096959 41099391 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 41135219 41135314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41139805 41139905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41151165 41159816 Loss Normal 244K array 17666407 NOT_FOUND chr2 41156271 42656869 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf91,COX7A2L,EML4,LOC388942,PKDCC chr2 41188351 41188451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41225710 41225810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41236460 41236560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41237242 41238196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 41281058 41281158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41295389 41295936 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 41356049 41607294 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr2 4137222 4137297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41410680 41410780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41488832 41488927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41534698 41534791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41600000 47600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG5,ABCG8,ATP6V1E2,C2orf61,C2orf91,CALM2,CAMKMT,COX7A2L,CRIPT,DYNC2LI1,EML4,EPAS1,EPCAM,HAAO,KCNG3,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR548AD,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,THADA,TMEM247,TTC7A,UNQ6975,ZFP36L2 chr2 41600000 47600000 Deletion Hypotonia-Cystinuria syndrome Quantitative RT-PCR 16385448 ABCG5,ABCG8,ATP6V1E2,C2orf61,C2orf91,CALM2,CAMKMT,COX7A2L,CRIPT,DYNC2LI1,EML4,EPAS1,EPCAM,HAAO,KCNG3,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR548AD,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,THADA,TMEM247,TTC7A,UNQ6975,ZFP36L2 chr2 41600000 47600000 Deletion Hypotonia Quantitative PCR 17579669 ABCG5,ABCG8,ATP6V1E2,C2orf61,C2orf91,CALM2,CAMKMT,COX7A2L,CRIPT,DYNC2LI1,EML4,EPAS1,EPCAM,HAAO,KCNG3,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR548AD,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,THADA,TMEM247,TTC7A,UNQ6975,ZFP36L2 chr2 41600000 47600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCG5,ABCG8,ATP6V1E2,C2orf61,C2orf91,CALM2,CAMKMT,COX7A2L,CRIPT,DYNC2LI1,EML4,EPAS1,EPCAM,HAAO,KCNG3,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR548AD,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,THADA,TMEM247,TTC7A,UNQ6975,ZFP36L2 chr2 41600000 47600000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 ABCG5,ABCG8,ATP6V1E2,C2orf61,C2orf91,CALM2,CAMKMT,COX7A2L,CRIPT,DYNC2LI1,EML4,EPAS1,EPCAM,HAAO,KCNG3,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR548AD,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,THADA,TMEM247,TTC7A,UNQ6975,ZFP36L2 chr2 41600000 47600000 Microdeletion Cystinuria References 17625506 ABCG5,ABCG8,ATP6V1E2,C2orf61,C2orf91,CALM2,CAMKMT,COX7A2L,CRIPT,DYNC2LI1,EML4,EPAS1,EPCAM,HAAO,KCNG3,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR548AD,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,THADA,TMEM247,TTC7A,UNQ6975,ZFP36L2 chr2 41600000 61100000 Copy number Breast cancer - 16272173 ABCG5,ABCG8,ACYP2,ASB3,ATP6V1E2,BCL11A,C2orf61,C2orf73,C2orf91,CALM2,CAMKMT,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,COX7A2L,CRIPT,DYNC2LI1,EFEMP1,EML4,EML6,EPAS1,EPCAM,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,HAAO,KCNG3,KCNK12,LHCGR,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR548AD,MIR559,MSH2,MSH6,MTA3,MTIF2,NRXN1,OXER1,PAPOLG,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRORSD1P,PSME4,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC3A1,SMEK2,SOCS5,SPTBN1,SRBD1,STON1,STON1-GTF2A1L,THADA,TMEM247,TSPYL6,TTC7A,UNQ6975,VRK2,ZFP36L2 chr2 41629471 41634786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 41629512 41634678 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 41648921 41782840 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 416745 552990 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 41677030 41677136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 41684162 41732553 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 41728318 41747767 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 41800000 47800000 Copy number Hereditary non-polyposis colorectal cancer References 19566914 ABCG5,ABCG8,ATP6V1E2,C2orf61,C2orf91,CALM2,CAMKMT,COX7A2L,CRIPT,DYNC2LI1,EML4,EPAS1,EPCAM,HAAO,KCNG3,KCNK12,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR548AD,MIR559,MSH2,MTA3,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,THADA,TMEM247,TTC7A,UNQ6975,ZFP36L2 chr2 41800000 52900000 Gain Lung cancer array CGH 17297452 ABCG5,ABCG8,ATP6V1E2,C2orf61,C2orf91,CALM2,CAMKMT,COX7A2L,CRIPT,DYNC2LI1,EML4,EPAS1,EPCAM,FBXO11,FOXN2,FSHR,GTF2A1L,HAAO,KCNG3,KCNK12,LHCGR,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR548AD,MIR559,MSH2,MSH6,MTA3,NRXN1,OXER1,PIGF,PKDCC,PLEKHH2,PPM1B,PPP1R21,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,STON1,STON1-GTF2A1L,THADA,TMEM247,TTC7A,UNQ6975,ZFP36L2 chr2 41800000 61300000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCG5,ABCG8,ACYP2,ASB3,ATP6V1E2,BCL11A,C2orf61,C2orf73,C2orf91,CALM2,CAMKMT,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,COX7A2L,CRIPT,DYNC2LI1,EFEMP1,EML4,EML6,EPAS1,EPCAM,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,HAAO,KCNG3,KCNK12,KIAA1841,LHCGR,LOC100129726,LOC100134259,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR548AD,MIR559,MSH2,MSH6,MTA3,MTIF2,NRXN1,OXER1,PAPOLG,PEX13,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRORSD1P,PSME4,PUS10,REL,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC3A1,SMEK2,SOCS5,SPTBN1,SRBD1,STON1,STON1-GTF2A1L,THADA,TMEM247,TSPYL6,TTC7A,UNQ6975,VRK2,ZFP36L2 chr2 41800000 64100000 Copy number Endometrioid adenocarcinoma CGH 16974079 ABCG5,ABCG8,ACYP2,AHSA2,ASB3,ATP6V1E2,B3GNT2,BCL11A,C2orf61,C2orf73,C2orf74,C2orf91,CALM2,CAMKMT,CCDC104,CCDC85A,CCDC88A,CCT4,CHAC2,CLHC1,COMMD1,COX7A2L,CRIPT,DBIL5P2,DYNC2LI1,EFEMP1,EHBP1,EML4,EML6,EPAS1,EPCAM,ERLEC1,FAM161A,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,HAAO,KCNG3,KCNK12,KIAA1841,LHCGR,LOC100129726,LOC100132215,LOC100134259,LOC339803,LOC388942,LOC388948,LOC728819,LRPPRC,MCFD2,MDH1,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR5192,MIR548AD,MIR559,MSH2,MSH6,MTA3,MTIF2,NRXN1,OTX1,OXER1,PAPOLG,PEX13,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRORSD1P,PSME4,PUS10,REL,RHOQ,RPL23AP32,RPS27A,RTN4,SIX2,SIX3,SLC3A1,SMEK2,SNORA70B,SOCS5,SPTBN1,SRBD1,STON1,STON1-GTF2A1L,THADA,TMEM17,TMEM247,TSPYL6,TTC7A,UGP2,UNQ6975,USP34,VRK2,WDPCP,XPO1,ZFP36L2 chr2 41813425 68291342 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ABCG5,ABCG8,ACTR2,ACYP2,AFTPH,AHSA2,ASB3,ATP6V1E2,B3GNT2,BCL11A,C1D,C2orf61,C2orf73,C2orf74,C2orf91,CALM2,CAMKMT,CCDC104,CCDC85A,CCDC88A,CCT4,CEP68,CHAC2,CLHC1,COMMD1,COX7A2L,CRIPT,DBIL5P2,DYNC2LI1,EFEMP1,EHBP1,EML4,EML6,EPAS1,EPCAM,ERLEC1,ETAA1,FAM161A,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,HAAO,KCNG3,KCNK12,KIAA1841,LGALSL,LHCGR,LINC00309,LOC100129726,LOC100132215,LOC100134259,LOC339803,LOC339807,LOC388942,LOC388948,LOC400958,LOC644838,LOC728819,LRPPRC,MCFD2,MDH1,MEIS1,MEIS1-AS3,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR4434,MIR4778,MIR5192,MIR548AD,MIR559,MSH2,MSH6,MTA3,MTIF2,NRXN1,OTX1,OXER1,PAPOLG,PELI1,PEX13,PIGF,PKDCC,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRORSD1P,PSME4,PUS10,RAB1A,REL,RHOQ,RPL23AP32,RPS27A,RTN4,SERTAD2,SIX2,SIX3,SLC1A4,SLC3A1,SMEK2,SNORA70B,SOCS5,SPRED2,SPTBN1,SRBD1,STON1,STON1-GTF2A1L,THADA,TMEM17,TMEM247,TSPYL6,TTC7A,UGP2,UNQ6975,USP34,VPS54,VRK2,WDPCP,XPO1,ZFP36L2 chr2 41824901 41831200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 41825284 41825384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41826646 41829370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 4182669 4201645 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 41834378 41834452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4183551 4201429 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 41850167 45751380 Deletion Glioblastoma multiforme 244K oligo array 21138945 ABCG5,ABCG8,C2orf91,CAMKMT,COX7A2L,DYNC2LI1,EML4,HAAO,KCNG3,LOC100129726,LOC388942,LOC728819,LRPPRC,MIR548AD,MTA3,OXER1,PKDCC,PLEKHH2,PPM1B,PREPL,SIX2,SIX3,SLC3A1,SRBD1,THADA,UNQ6975,ZFP36L2 chr2 41859489 41863039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 41900367 41901723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 4190454 4203957 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 4190454 4203957 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 4190454 4203957 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 4190551 4201354 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 4191523 4203957 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 4191523 4203957 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 4191523 4203957 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 4191727 4201882 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 4191739 4201042 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 4191739 4201042 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 41930847 41931245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 41930847 41931245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 41930850 41931245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 4193669 4193769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41937915 41938016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 419473 3342118 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 LOC339822,LOC730811,MYT1L,PXDN,SNTG2,TMEM18,TPO,TSSC1 chr2 4194768 4207937 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 41951915 41952055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 41958467 41976417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 41958541 41958857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 41972685 41974683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 41972685 41974683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 41975086 42852416 Deletion Acute myeloid leukemia - 21251322 C2orf91,COX7A2L,EML4,KCNG3,LOC388942,MTA3,PKDCC chr2 41984967 41985117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 41988994 41989392 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 41996064 41996163 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 41997602 41997702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4199764 4199839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 42010062 42010191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 42016012 42034910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 42016012 42034910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 42039827 43006285 LOH Normal High-resolution SNP genotyping 21211785 C2orf91,COX7A2L,EML4,HAAO,KCNG3,LOC388942,MTA3,OXER1,PKDCC chr2 42052827 42052927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 42126501 42140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 42128664 42139172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 42128664 42139172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 42148370 42148470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 42187316 42197308 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 42192931 42197305 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 42199654 42200606 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 42199764 42200818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 42249997 42413192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EML4,PKDCC chr2 42249997 42413192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML4,PKDCC chr2 42263104 42742606 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 COX7A2L,EML4,KCNG3,PKDCC chr2 42287115 42287147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 42300387 44528491 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-332K arrays 21546498 ABCG5,ABCG8,COX7A2L,DYNC2LI1,EML4,HAAO,KCNG3,LOC100129726,LOC728819,LRPPRC,MTA3,OXER1,PLEKHH2,PPM1B,SLC3A1,THADA,ZFP36L2 chr2 42308167 42471337 Gain and loss Pancreatic cancer SNP array 17952125 EML4 chr2 42308167 42471339 Deletion T-cell lymphomas Array-CGH 22341440 EML4 chr2 42311196 42345550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 42316677 42656869 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COX7A2L,EML4 chr2 42325723 42325810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 42336426 42381387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 42356970 42357070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 42391900 43774500 Gain Prostate cancer Array CGH 18632612 COX7A2L,EML4,HAAO,KCNG3,LOC100129726,MTA3,OXER1,THADA,ZFP36L2 chr2 42400000 65800000 Duplication abnormal development HR-CGH, Array-CGH 18461090 ABCG5,ABCG8,ACTR2,ACYP2,AFTPH,AHSA2,ASB3,ATP6V1E2,B3GNT2,BCL11A,C2orf61,C2orf73,C2orf74,CALM2,CAMKMT,CCDC104,CCDC85A,CCDC88A,CCT4,CEP68,CHAC2,CLHC1,COMMD1,COX7A2L,CRIPT,DBIL5P2,DYNC2LI1,EFEMP1,EHBP1,EML4,EML6,EPAS1,EPCAM,ERLEC1,FAM161A,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,HAAO,KCNG3,KCNK12,KIAA1841,LGALSL,LHCGR,LINC00309,LOC100129726,LOC100132215,LOC100134259,LOC339803,LOC339807,LOC388948,LOC400958,LOC728819,LRPPRC,MCFD2,MDH1,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR4434,MIR5192,MIR548AD,MIR559,MSH2,MSH6,MTA3,MTIF2,NRXN1,OTX1,OXER1,PAPOLG,PELI1,PEX13,PIGF,PLEKHH2,PNPT1,PPM1B,PPP1R21,PREPL,PRKCE,PRORSD1P,PSME4,PUS10,RAB1A,REL,RHOQ,RPL23AP32,RPS27A,RTN4,SERTAD2,SIX2,SIX3,SLC1A4,SLC3A1,SMEK2,SNORA70B,SOCS5,SPRED2,SPTBN1,SRBD1,STON1,STON1-GTF2A1L,THADA,TMEM17,TMEM247,TSPYL6,TTC7A,UGP2,UNQ6975,USP34,VPS54,VRK2,WDPCP,XPO1,ZFP36L2 chr2 42429982 42449654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML4 chr2 4244817 4256713 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 4244863 4256713 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 4244863 4261854 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 42489298 42500007 Deletion T-cell lymphomas Array-CGH 22341440 EML4 chr2 42489298 42507801 Gain and loss Pancreatic cancer SNP array 17952125 EML4 chr2 42521021 42521080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML4 chr2 42522661 42574741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EML4 chr2 42522661 42574741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML4 chr2 4253800 4281675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 4253893 4253983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 42543783 42544641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML4 chr2 42550000 45520000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABCG5,ABCG8,CAMKMT,COX7A2L,DYNC2LI1,EML4,HAAO,KCNG3,LOC100129726,LOC728819,LRPPRC,MIR548AD,MTA3,OXER1,PLEKHH2,PPM1B,PREPL,SIX2,SIX3,SLC3A1,THADA,UNQ6975,ZFP36L2 chr2 42550461 42550907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML4 chr2 42575213 42837591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COX7A2L,KCNG3,MTA3 chr2 42575213 42837591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COX7A2L,KCNG3,MTA3 chr2 42580808 42632888 Deletion T-cell lymphomas Array-CGH 22341440 COX7A2L chr2 42580808 42632888 Gain and loss Pancreatic cancer SNP array 17952125 COX7A2L chr2 4259088 4285001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 4260748 4282134 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 42613410 42614086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 42633098 42848004 Deletion T-cell lymphomas Array-CGH 22341440 KCNG3,MTA3 chr2 4267999 4282471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 4268634 4285199 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 42702297 42702436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNG3 chr2 42707537 42895737 Gain and loss Pancreatic cancer SNP array 17952125 KCNG3,MTA3 chr2 42718605 42718692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNG3 chr2 4272190 4302151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 42760732 42760866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 42776752 42776837 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 42793384 42793491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 42834001 43316000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HAAO,MTA3,OXER1 chr2 42843125 42844905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTA3 chr2 42843125 42844905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA3 chr2 42843142 42844905 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MTA3 chr2 42843142 42844905 Gain or loss Breast cancer - 20668451 MTA3 chr2 42843142 42844905 Gain or loss Cancer - 20668451 MTA3 chr2 42843142 42844905 Gain or loss Lung cancer - 20668451 MTA3 chr2 42843142 42844905 Gain or loss Ovarian cancer - 20668451 MTA3 chr2 42843142 42844905 Gain or loss Pancreas cancer - 20668451 MTA3 chr2 42843142 42844905 Gain or loss Prostate cancer - 20668451 MTA3 chr2 42847138 42873245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTA3 chr2 42847138 42873245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA3 chr2 42851531 42851637 Gain and loss Pancreatic cancer SNP array 17952125 MTA3 chr2 42851531 42851638 Gain and loss Pancreatic cancer SNP array 17952125 MTA3 chr2 4287169 4297891 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 42877869 42879356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA3 chr2 42901699 42902970 Gain and loss Pancreatic cancer SNP array 17952125 MTA3 chr2 42905881 42931366 Deletion T-cell lymphomas Array-CGH 22341440 MTA3 chr2 42905886 42931385 Gain and loss Pancreatic cancer SNP array 17952125 MTA3 chr2 42906969 42908154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTA3 chr2 4294508 4296276 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 4294508 4296851 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 42982727 42983057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 4300000 7000000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 CMPK2,LINC00487,LOC150622,LOC400940,LOC727982,SOX11 chr2 4300000 7000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CMPK2,LINC00487,LOC150622,LOC400940,LOC727982,SOX11 chr2 43024088 43024284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43070799 43070899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43149163 43149241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43172030 43172136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 43173312 43173344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43174987 44169924 LOH Normal High-resolution SNP genotyping 21211785 ABCG5,ABCG8,DYNC2LI1,LOC100129726,LOC728819,LRPPRC,PLEKHH2,THADA,ZFP36L2 chr2 43199170 43212631 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 43230180 43230283 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 4324076 4324170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43248780 43248830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43271353 43952722 LOH Normal High-resolution SNP genotyping 21211785 LOC100129726,LOC728819,PLEKHH2,THADA,ZFP36L2 chr2 43301504 44167324 LOH Normal High-resolution SNP genotyping 21211785 ABCG5,ABCG8,DYNC2LI1,LOC100129726,LOC728819,LRPPRC,PLEKHH2,THADA,ZFP36L2 chr2 43303044 43307249 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 43304210 43307249 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 43304210 43307249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 43304210 43307249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 43307984 43309496 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 43307984 43309496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 43307984 43309496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 43311479 43676689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100129726,THADA,ZFP36L2 chr2 43311479 43676689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100129726,THADA,ZFP36L2 chr2 43311495 43676684 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100129726,THADA,ZFP36L2 chr2 43334895 43334940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43337000 43624000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 LOC100129726,THADA,ZFP36L2 chr2 43362357 43365396 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 43362357 43365396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 43366131 43367645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 43369642 43734828 Deletion T-cell lymphomas Array-CGH 22341440 LOC100129726,THADA,ZFP36L2 chr2 43369642 43734831 Gain and loss Pancreatic cancer SNP array 17952125 LOC100129726,THADA,ZFP36L2 chr2 43407901 44449149 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCG5,ABCG8,DYNC2LI1,LOC100129726,LOC728819,LRPPRC,PLEKHH2,PPM1B,THADA,ZFP36L2 chr2 43420692 43420787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43427049 43427139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4348134 4348234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 43488950 43489020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THADA chr2 43547097 43547167 Gain and loss Pancreatic cancer SNP array 17952125 THADA chr2 43633598 43635359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 THADA chr2 4367960 4368114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 43681325 43834135 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 THADA chr2 43696808 43725529 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THADA chr2 43698087 43740762 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THADA chr2 43701521 43701627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THADA chr2 43707165 43707612 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THADA chr2 43707766 43707984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THADA chr2 43711429 43711529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THADA chr2 43717942 43848629 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 THADA chr2 43717943 43848629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 THADA chr2 43717943 43848629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THADA chr2 43738669 43738769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THADA chr2 43740289 43740380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THADA chr2 43741065 43747143 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THADA chr2 43755795 43756965 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 THADA chr2 43759670 43759774 Gain and loss Pancreatic cancer SNP array 17952125 THADA chr2 43761108 43762265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THADA chr2 43776098 43906776 Gain and loss Pancreatic cancer SNP array 17952125 LOC728819,PLEKHH2,THADA chr2 43776098 43906777 Deletion T-cell lymphomas Array-CGH 22341440 LOC728819,PLEKHH2,THADA chr2 43783487 45485957 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCG5,ABCG8,CAMKMT,DYNC2LI1,LOC728819,LRPPRC,MIR548AD,PLEKHH2,PPM1B,PREPL,SIX2,SIX3,SLC3A1,THADA,UNQ6975 chr2 43784537 43808539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THADA chr2 43814165 43815112 Gain and loss Pancreatic cancer SNP array 17952125 THADA chr2 43841634 43842267 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr2 43854692 43890645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHH2 chr2 43854692 43890645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHH2 chr2 43893115 43919508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC728819,PLEKHH2 chr2 43893115 43919508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728819,PLEKHH2 chr2 43912833 43948798 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHH2 chr2 43912833 43948800 Deletion T-cell lymphomas Array-CGH 22341440 PLEKHH2 chr2 43918501 43920000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHH2 chr2 43919607 43959108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEKHH2 chr2 43919607 43959108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHH2 chr2 43920001 43932000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHH2 chr2 43932001 43934500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLEKHH2 chr2 43951262 43977609 Deletion T-cell lymphomas Array-CGH 22341440 PLEKHH2 chr2 43951262 43977609 Gain and loss Pancreatic cancer SNP array 17952125 PLEKHH2 chr2 43968391 44076648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABCG5,ABCG8,DYNC2LI1,PLEKHH2 chr2 43968391 44076648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABCG5,ABCG8,DYNC2LI1,PLEKHH2 chr2 43973333 43973439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEKHH2 chr2 43977754 44017255 Gain and loss Pancreatic cancer SNP array 17952125 DYNC2LI1,PLEKHH2 chr2 43977754 44017256 Deletion T-cell lymphomas Array-CGH 22341440 DYNC2LI1,PLEKHH2 chr2 4400000 32100000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ABHD1,ADAM17,ADCY3,AGBL5,ALK,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00487,LINC00570,LOC100505624,LOC100505716,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC400940,LOC645949,LOC727982,LPIN1,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,NBAS,NCOA1,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,RAB10,RAD51AP2,RBKS,RDH14,RHOB,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SDC1,SF3B14,SLC30A3,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNX17,SOX11,SPDYA,SRD5A2,SUPT7L,TAF1B,TCF23,TMEM214,TP53I3,TRIB2,TRIM54,TRMT61B,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 44017884 44017984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYNC2LI1 chr2 44026535 44134795 Gain and loss Pancreatic cancer SNP array 17952125 ABCG5,ABCG8,DYNC2LI1,LRPPRC chr2 44026538 44134795 Deletion T-cell lymphomas Array-CGH 22341440 ABCG5,ABCG8,DYNC2LI1,LRPPRC chr2 44031480 44031585 Gain and loss Pancreatic cancer SNP array 17952125 DYNC2LI1 chr2 44031480 44031586 Gain and loss Pancreatic cancer SNP array 17952125 DYNC2LI1 chr2 44073 121679355 Gain Prostate cancer Array CGH 18632612 AAK1,ABCG5,ABCG8,ABHD1,ACOXL,ACP1,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ARID5A,ASAP2,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BCL2L11,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf48,C2orf49,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf76,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CBWD2,CCDC104,CCDC121,CCDC138,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCDC93,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHCHD5,CHMP3,CHST10,CIAO1,CIB4,CKAP2L,CLEC4F,CLHC1,CLIP4,CMPK2,CNGA3,CNNM3,CNNM4,CNRIP1,COA5,COLEC11,COMMD1,COX5B,COX7A2L,CPSF3,CREG2,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBI,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPP10,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP2,DYNC2LI1,DYSF,E2F6,EDAR,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM110C,FAM136A,FAM138B,FAM150B,FAM161A,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FNDC4,FOSL2,FOXD4L1,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCC2,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GPAT2,GPN1,GPR113,GPR45,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITGB1BP1,ITPRIPL1,ITSN2,KANSL3,KCMF1,KCNF1,KCNG3,KCNIP3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1211L,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LIPT1,LMAN2L,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506274,LOC100506421,LOC100506474,LOC100507334,LOC100630918,LOC150568,LOC150622,LOC151009,LOC1720,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC389023,LOC400940,LOC400958,LOC440894,LOC440895,LOC440900,LOC442028,LOC541471,LOC644838,LOC645949,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,LYG1,LYG2,MAL,MALL,MAP4K3,MAP4K4,MAPRE3,MARCO,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,MFSD2B,MFSD9,MGAT4A,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3127,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4757,MIR4765,MIR4772,MIR4778,MIR4779,MIR4780,MIR4782,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MIR5696,MITD1,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCAPH,NCK2,NCOA1,NEURL3,NFU1,NLRC4,NMS,NOL10,NOTO,NPAS2,NPHP1,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POMC,POU3F3,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PROM2,PRORSD1P,PSD4,PSME4,PTCD3,PTPN4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RABL2A,RAD51AP2,RALB,RANBP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,ROCK2,RPIA,RPL23AP32,RPL23AP7,RPL31,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SCTR,SDC1,SEMA4C,SEMA4F,SEPT10,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SH3YL1,SIX2,SIX3,SLC1A4,SLC20A1,SLC30A3,SLC30A6,SLC35F5,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,ST6GAL2,STAMBP,STARD7,STEAP3,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUPT7L,TACR1,TAF1B,TBC1D8,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM214,TMEM247,TMEM37,TMEM87B,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,TTL,TXNDC9,UBXN2A,UCN,UGP2,UNC50,UNQ6975,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WASH2P,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZAP70,ZC3H6,ZC3H8,ZFP36L2,ZNF2,ZNF512,ZNF513,ZNF514,ZNF638 chr2 44073 60812692 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ABCG5,ABCG8,ABHD1,ACP1,ACYP2,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASB3,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,BCL11A,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,CMPK2,COLEC11,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LHCGR,LINC00299,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4757,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OXER1,PDIA6,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PQLC3,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SF3B14,SH3YL1,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,VRK2,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 44073 64590503 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ABCG5,ABCG8,ABHD1,ACP1,ACYP2,ADAM17,ADCY3,ADI1,AGBL5,AHSA2,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASB3,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,CMPK2,COLEC11,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DBIL5P2,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,FAM110C,FAM150B,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339803,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MDH1,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4757,MIR4765,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OTX1,OXER1,PAPOLG,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PQLC3,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RPS7,RRM2,RSAD2,RTN4,SDC1,SF3B14,SH3YL1,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA70B,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM17,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSPYL6,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 44100 6608800 Gain Prostate cancer Array CGH 18632612 ACP1,ADI1,ALLC,COLEC11,FAM110C,FAM150B,LOC100505964,LOC100506054,LOC150622,LOC339822,LOC400940,LOC727982,LOC730811,MYT1L,PXDN,RNASEH1,RPS7,SH3YL1,SNTG2,SOX11,TMEM18,TPO,TRAPPC12,TSSC1 chr2 44146537 44146797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRPPRC chr2 44161997 44162317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRPPRC chr2 44162001 44162321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRPPRC chr2 44172103 44174683 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRPPRC chr2 44190410 51357966 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP6V1E2,C2orf61,CALM2,CAMKMT,CRIPT,EPAS1,EPCAM,FBXO11,FOXN2,FSHR,GTF2A1L,KCNK12,LHCGR,LOC100134259,LOC388948,LRPPRC,MCFD2,MIR548AD,MIR559,MSH2,MSH6,NRXN1,PIGF,PPM1B,PPP1R21,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,STON1,STON1-GTF2A1L,TMEM247,TTC7A,UNQ6975 chr2 44191258 44233145 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LRPPRC chr2 44231718 44231789 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 44235437 44235517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 44245755 44245823 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 44249504 44325029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 44249504 44325029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 44293584 44293664 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 44307667 44372862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 44307667 44372863 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 44313693 44313773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 44320224 44320304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 44320425 44322053 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 44320612 44322335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 44320871 44321576 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 44331851 81835873 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAK1,ACTG2,ACTR2,ACYP2,ADD2,AFTPH,AHSA2,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ASB3,ASPRV1,ATP6V1B1,ATP6V1E2,AUP1,B3GNT2,BCL11A,BMP10,BOLA3,BOLA3-AS1,C1D,C2orf42,C2orf61,C2orf65,C2orf73,C2orf74,C2orf78,C2orf81,CALM2,CAMKMT,CCDC104,CCDC142,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CEP68,CHAC2,CLEC4F,CLHC1,CNRIP1,COMMD1,CRIPT,CTNNA2,CYP26B1,DBIL5P2,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,DUSP11,DYSF,EFEMP1,EGR4,EHBP1,EML6,EMX1,EPAS1,EPCAM,ERLEC1,ETAA1,EXOC6B,FAM136A,FAM161A,FAM176A,FANCL,FBXO11,FBXO41,FBXO48,FIGLA,FLJ16341,FLJ30838,FOXN2,FSHR,GCFC2,GFPT1,GKN1,GKN2,GMCL1,GPR75,GPR75-ASB3,GTF2A1L,HK2,HTRA2,INO80B,INO80B-WBP1,KCNK12,KIAA1841,LBX2,LBX2-AS1,LGALSL,LHCGR,LINC00309,LOC100132215,LOC100133985,LOC100134259,LOC339803,LOC339807,LOC388948,LOC400958,LOC644838,LOXL3,LRRTM1,LRRTM4,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MIR216A,MIR216B,MIR217,MIR3126,MIR3682,MIR4264,MIR4426,MIR4432,MIR4434,MIR4778,MIR5000,MIR5192,MIR548AD,MIR559,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL53,MSH2,MSH6,MTHFD2,MTIF2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,NRXN1,OR7E91P,OTX1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PELI1,PEX13,PIGF,PLEK,PNO1,PNPT1,POLE4,PPM1B,PPP1R21,PPP3R1,PRADC1,PREPL,PRKCE,PROKR1,PRORSD1P,PSME4,PUS10,RAB11FIP5,RAB1A,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RHOQ,RPL23AP32,RPS27A,RTKN,RTN4,SEMA4F,SERTAD2,SFXN5,SIX2,SIX3,SLC1A4,SLC3A1,SLC4A5,SMEK2,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNRNP27,SNRPG,SOCS5,SPR,SPRED2,SPTBN1,SRBD1,STAMBP,STON1,STON1-GTF2A1L,TACR1,TET3,TEX261,TGFA,TIA1,TLX2,TMEM17,TMEM247,TPRKB,TSPYL6,TTC31,TTC7A,UGP2,UNQ6975,USP34,VAX2,VPS54,VRK2,WBP1,WDPCP,WDR54,WDR92,XPO1,ZNF638 chr2 44356100 44401466 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 PPM1B chr2 44356100 44401466 Genomic rearrangement Cystinuria MLPA analysis 21255007 PPM1B chr2 44356100 44401466 Rearrangement Cystinuria MLPA 21255007 PPM1B chr2 44356107 44401464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1B chr2 44356107 44401464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1B chr2 44361420 47866370 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 ATP6V1E2,C2orf61,CALM2,CAMKMT,CRIPT,EPAS1,EPCAM,KCNK12,LOC100134259,LOC388948,MCFD2,MIR548AD,MIR559,MSH2,PIGF,PPM1B,PREPL,PRKCE,RHOQ,SIX2,SIX3,SLC3A1,SOCS5,SRBD1,TMEM247,TTC7A,UNQ6975 chr2 44378371 44378451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 44399406 44442449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1B chr2 44399406 44442449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1B chr2 44409411 44409754 Gain and loss Pancreatic cancer SNP array 17952125 PPM1B chr2 44414250 44459595 Deletion T-cell lymphomas Array-CGH 22341440 PPM1B chr2 44414267 44459611 Gain and loss Pancreatic cancer SNP array 17952125 PPM1B chr2 44442593 44853233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMKMT,MIR548AD,PPM1B,PREPL,SLC3A1 chr2 44442593 44853233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMKMT,MIR548AD,PPM1B,PREPL,SLC3A1 chr2 44442651 44853233 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CAMKMT,MIR548AD,PPM1B,PREPL,SLC3A1 chr2 44457554 44500274 Gain and loss Pancreatic cancer SNP array 17952125 PPM1B chr2 44489737 44489826 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 44500742 44910903 Gain and loss Pancreatic cancer SNP array 17952125 CAMKMT,MIR548AD,PREPL,SLC3A1 chr2 44500754 44911380 Deletion T-cell lymphomas Array-CGH 22341440 CAMKMT,MIR548AD,PREPL,SLC3A1 chr2 44518098 44518176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC3A1 chr2 44531130 44531130 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 SLC3A1 chr2 44531130 44531130 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 SLC3A1 chr2 44635101 44639000 Deletion Glioma mate-paired sequence 20126413 CAMKMT chr2 44637092 44637412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAMKMT chr2 44678225 44818183 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CAMKMT,MIR548AD chr2 44809844 45485957 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAMKMT,SIX2,SIX3,UNQ6975 chr2 44825620 44825851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMKMT chr2 44825735 44825835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMKMT chr2 44850123 45666281 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CAMKMT,SIX2,SIX3,SRBD1,UNQ6975 chr2 4486236 4486341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 4486236 4486342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 44988371 44988403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMKMT chr2 45002324 45003004 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 45008501 45036500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 45022540 45025894 Microdeletion Holoprosencephaly FISH 16199538 NOT_FOUND chr2 45022541 45025894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 45022541 45025894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 45022541 45025894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 45036501 45081000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 4506375 4506475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45077056 45077516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 45080512 45084092 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 45080512 45084092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 45081001 45095500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 45085009 45086190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 45085854 45090046 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 45085854 45090046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 45085854 45090046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 45111960 45156695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 45121187 45121277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45131502 45131602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45135329 45135663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 45143995 45148173 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 45143999 45148193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 45171969 45189796 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIX3 chr2 45193750 45193830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45236937 45237001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45239510 45239610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45254987 45335584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 45254987 45335584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 45254987 45335584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 45262920 45829157 Duplication Schizophrenia NimbleGen HD2 platform 21346763 SRBD1,UNQ6975 chr2 45269745 45813464 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 SRBD1,UNQ6975 chr2 45284590 45316839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 4530564 5925481 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC727982,SOX11 chr2 4530564 7900644 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CMPK2,LINC00487,LOC100506274,LOC150622,LOC400940,LOC727982,RNF144A,RNF144A-AS1,RSAD2,SOX11 chr2 45328925 45367965 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 45347330 45347430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45349151 45349251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45361892 45361992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45382159 45382234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4539669 4540521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 45412805 45412898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNQ6975 chr2 45469324 45691907 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SRBD1,UNQ6975 chr2 45469324 45691907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SRBD1,UNQ6975 chr2 45469324 45691907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRBD1,UNQ6975 chr2 45481506 45481606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UNQ6975 chr2 45483747 45483837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45527471 45750054 Deletion T-cell lymphomas Array-CGH 22341440 SRBD1 chr2 45527471 45750054 Gain and loss Pancreatic cancer SNP array 17952125 SRBD1 chr2 45579926 45580026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4559278 4559397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45616183 45616263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRBD1 chr2 45649842 45650130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRBD1 chr2 45649844 45650135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SRBD1 chr2 45669495 46511903 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PRKCE,SRBD1 chr2 45669495 47997913 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP6V1E2,C2orf61,CALM2,CRIPT,EPAS1,EPCAM,KCNK12,LOC100134259,LOC388948,MCFD2,MIR559,MSH2,PIGF,PRKCE,RHOQ,SOCS5,SRBD1,TMEM247,TTC7A chr2 45691801 46602600 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPAS1,PRKCE,SRBD1 chr2 45703501 45703601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRBD1 chr2 45707989 45708277 Gain and loss Pancreatic cancer SNP array 17952125 SRBD1 chr2 45730501 45733500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SRBD1 chr2 45732546 46268633 Copy number Lung cancer - 20668451 PRKCE,SRBD1 chr2 45732546 46268633 Gain or loss Breast cancer - 20668451 PRKCE,SRBD1 chr2 45732546 46268633 Gain or loss Cancer - 20668451 PRKCE,SRBD1 chr2 45732546 46268633 Gain or loss Lung cancer - 20668451 PRKCE,SRBD1 chr2 45732546 46268633 Gain or loss Ovarian cancer - 20668451 PRKCE,SRBD1 chr2 45732546 46268633 Gain or loss Pancreas cancer - 20668451 PRKCE,SRBD1 chr2 45732546 46268633 Gain or loss Prostate cancer - 20668451 PRKCE,SRBD1 chr2 45732547 46268632 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCE,SRBD1 chr2 45732547 46268632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCE,SRBD1 chr2 45732547 46268632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCE,SRBD1 chr2 45790694 46326779 Gain and loss Pancreatic cancer SNP array 17952125 PRKCE,SRBD1 chr2 45790694 46326780 Deletion T-cell lymphomas Array-CGH 22341440 PRKCE,SRBD1 chr2 45829924 45842527 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SRBD1 chr2 45837768 45837868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRBD1 chr2 45857105 45857205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45872193 45872266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 45881372 45881445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 45906702 45906781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 45915271 45944694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRKCE chr2 4591606 4591661 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 46035609 46035709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46052449 46052518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46078583 46078683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46084585 46084952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCE chr2 46095190 46912586 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATP6V1E2,CRIPT,EPAS1,PIGF,PRKCE,RHOQ,TMEM247 chr2 46133906 46134006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46166201 46166451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCE chr2 4617728 4617827 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 46195983 46196191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46196081 46196181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46196218 46196362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46239964 46240064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46242157 46242257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46266795 46266895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46287287 46287448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCE chr2 4629711 4629805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 46324107 46324207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46375804 46375872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCE chr2 46377001 46380000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRKCE chr2 46378067 46467339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCE chr2 46378067 46467339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCE chr2 46378067 46467339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCE chr2 46436214 46525486 Gain and loss Pancreatic cancer SNP array 17952125 EPAS1 chr2 46436214 46525487 Deletion T-cell lymphomas Array-CGH 22341440 EPAS1 chr2 46442683 46448145 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 46444463 46785802 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP6V1E2,EPAS1,RHOQ,TMEM247 chr2 46458501 46464000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 46490449 46490549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4650000 7920000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 CMPK2,LINC00487,LOC100506274,LOC150622,LOC400940,LOC727982,RNF144A,RNF144A-AS1,RSAD2,SOX11 chr2 46503365 46534963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPAS1 chr2 46528867 46529144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPAS1 chr2 46528869 46529154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPAS1 chr2 46547778 46551185 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 EPAS1 chr2 46549602 46551188 Loss Normal Birdsuite, version 1.5.2 22087296 EPAS1 chr2 46549804 46552297 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 EPAS1 chr2 46560199 46565066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPAS1 chr2 46560199 46565067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPAS1 chr2 46560199 46565067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPAS1 chr2 46568261 46568361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPAS1 chr2 46587014 46587291 Gain and loss Pancreatic cancer SNP array 17952125 EPAS1 chr2 46592494 46600600 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPAS1 chr2 46592494 46623200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPAS1 chr2 46592494 46623200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPAS1 chr2 46598115 46623386 Deletion T-cell lymphomas Array-CGH 22341440 EPAS1 chr2 46604024 46638739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPAS1 chr2 46606849 46606940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPAS1 chr2 46618376 46623213 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 46621415 46624443 Gain Normal 244K array 17666407 NOT_FOUND chr2 46623371 46665331 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 46623371 46665331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46623371 46665331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46650639 46658747 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 46650639 46658747 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 46661918 46697755 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 46661918 46697755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46661918 46697755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46681526 46721071 Gain and loss Pancreatic cancer SNP array 17952125 TMEM247 chr2 46681811 46719873 Deletion T-cell lymphomas Array-CGH 22341440 TMEM247 chr2 46697001 46698000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 46697811 46705687 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 46697812 46705689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 46697812 46705689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46697812 46705689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46720065 46755855 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1E2 chr2 46720067 46755855 Deletion T-cell lymphomas Array-CGH 22341440 ATP6V1E2 chr2 46727075 46729812 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 46728250 47042885 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP6V1E2,CRIPT,PIGF,RHOQ,SOCS5 chr2 46732988 46733365 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 46734881 46735068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46744042 46784467 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ATP6V1E2,RHOQ chr2 46755959 46763836 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 46755959 46763837 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 46763637 46763952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 46763940 46782454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RHOQ chr2 46779001 46780500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RHOQ chr2 46779595 46843431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PIGF,RHOQ chr2 46779602 46843431 Copy number Lung cancer - 20668451 PIGF,RHOQ chr2 46779602 46843431 Gain or loss Breast cancer - 20668451 PIGF,RHOQ chr2 46779602 46843431 Gain or loss Cancer - 20668451 PIGF,RHOQ chr2 46779602 46843431 Gain or loss Lung cancer - 20668451 PIGF,RHOQ chr2 46779602 46843431 Gain or loss Ovarian cancer - 20668451 PIGF,RHOQ chr2 46779602 46843431 Gain or loss Pancreas cancer - 20668451 PIGF,RHOQ chr2 46779602 46843431 Gain or loss Prostate cancer - 20668451 PIGF,RHOQ chr2 46779603 46843431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIGF,RHOQ chr2 46779603 46843431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIGF,RHOQ chr2 46837742 46901571 Gain and loss Pancreatic cancer SNP array 17952125 CRIPT,PIGF chr2 46837750 46901578 Deletion T-cell lymphomas Array-CGH 22341440 CRIPT,PIGF chr2 46860501 47062000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100134259,LOC388948,SOCS5 chr2 46897326 46903300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46897326 46903300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 46908506 46939649 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SOCS5 chr2 46928741 46928954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOCS5 chr2 46928955 46929179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOCS5 chr2 46982517 47022498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOCS5 chr2 46982517 47022498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOCS5 chr2 46982521 46996453 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SOCS5 chr2 46996800 47156780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100134259,LOC388948,MCFD2 chr2 46996800 47156780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100134259,LOC388948,MCFD2 chr2 47021817 47156778 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100134259,LOC388948,MCFD2 chr2 47032701 47184500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100134259,LOC388948,MCFD2,TTC7A chr2 47040668 47054600 Deletion T-cell lymphomas Array-CGH 22341440 LOC388948 chr2 47040668 47054600 Gain and loss Pancreatic cancer SNP array 17952125 LOC388948 chr2 47062001 47165000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100134259,MCFD2 chr2 47070599 47070640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100134259 chr2 47074797 47074878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100134259 chr2 47079964 47214927 Gain and loss Pancreatic cancer SNP array 17952125 LOC100134259,MCFD2,TTC7A chr2 47080332 47212713 Deletion T-cell lymphomas Array-CGH 22341440 LOC100134259,MCFD2,TTC7A chr2 4712005 4732193 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 47131323 47131368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCFD2 chr2 4713556 4726608 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 47142564 47142655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCFD2 chr2 4715980 4723929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 47162330 47604743 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf61,CALM2,EPCAM,MCFD2,TTC7A chr2 4717630 4738143 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 47191701 47191801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC7A chr2 4720887 4736262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 47209091 47235930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TTC7A chr2 47209091 47235930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC7A chr2 47209091 47235930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC7A chr2 4721538 4724548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 4722008 4728536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 47223817 47248251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC7A chr2 47224899 48358267 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C2orf61,CALM2,EPCAM,FBXO11,KCNK12,MIR559,MSH2,MSH6,TTC7A chr2 47240809 47257154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC7A chr2 47240809 47257154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC7A chr2 47240809 47257159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TTC7A chr2 47267238 47294077 Deletion T-cell lymphomas Array-CGH 22341440 TTC7A chr2 47267238 47294077 Gain and loss Pancreatic cancer SNP array 17952125 TTC7A chr2 47298956 47315306 Gain and loss Pancreatic cancer SNP array 17952125 C2orf61,TTC7A chr2 4731026 4919893 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 47319283 47319383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf61 chr2 4736830 4736910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 47411660 47520342 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 47425801 47467661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47425801 47467661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47440105 47440428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47458318 47458413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47483766 47760012 Deletion Colorectal cancer MLPA 17569143 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Deletion Hereditary non-polyposis colorectal cancer MLPA and Nonfluorescent Multiplex PCR Analysis 16941473 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Deletion Lynch syndrome 20kb PLUS PCR systems 16541406 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Deletion Non-syndromic sensorineural hearing loss MLPA 19173287 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Duplication Hereditary non-polyposis colorectal cancer PCR 17228328 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Gain or loss Breast cancer - 20668451 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Gain or loss Cancer - 20668451 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Gain or loss Lung cancer - 20668451 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Gain or loss Ovarian cancer - 20668451 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Gain or loss Pancreas cancer - 20668451 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Gain or loss Prostate cancer - 20668451 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Genomic rearrangement Lynch syndrome MLPA 20937110 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Nonsense Breast cancer - 20616022 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Rearrangement Colorectal cancer Southern blot 18708397 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Rearrangement Endometrial cancer Southern blot 18708397 EPCAM,KCNK12,MIR559,MSH2 chr2 47483766 47760012 Rearrangement Lynch syndrome Southern blot 18708397 EPCAM,KCNK12,MIR559,MSH2 chr2 47483767 47593877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47483767 47593877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47498250 47498567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 47498314 47498552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 47507561 47507639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 47508101 47525808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 47508118 47525808 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 47537323 47537411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 47541914 47622011 Deletion T-cell lymphomas Array-CGH 22341440 EPCAM,MIR559 chr2 47541914 47622011 Gain and loss Pancreatic cancer SNP array 17952125 EPCAM,MIR559 chr2 47556745 47997913 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EPCAM,KCNK12,MIR559,MSH2 chr2 4757101 4767200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 47580028 47616873 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EPCAM,MIR559 chr2 4759167 4765230 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 47600000 52700000 Copy number Autism - 21701786 EPCAM,FBXO11,FOXN2,FSHR,GTF2A1L,KCNK12,LHCGR,MIR559,MSH2,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47600000 52700000 Deletion Autism high-density microarrays 22241247 EPCAM,FBXO11,FOXN2,FSHR,GTF2A1L,KCNK12,LHCGR,MIR559,MSH2,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47600000 52700000 Deletion Schizophrenia - 20587603 EPCAM,FBXO11,FOXN2,FSHR,GTF2A1L,KCNK12,LHCGR,MIR559,MSH2,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47600000 52700000 Deletion Schizophrenia References 20553308 EPCAM,FBXO11,FOXN2,FSHR,GTF2A1L,KCNK12,LHCGR,MIR559,MSH2,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47600000 52700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 EPCAM,FBXO11,FOXN2,FSHR,GTF2A1L,KCNK12,LHCGR,MIR559,MSH2,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47600000 54800000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ACYP2,ASB3,C2orf73,CHAC2,EPCAM,ERLEC1,FBXO11,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,KCNK12,LHCGR,MIR3682,MIR559,MSH2,MSH6,NRXN1,PPP1R21,PSME4,RPL23AP32,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6 chr2 47600000 61100000 Copy number Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ACYP2,ASB3,BCL11A,C2orf73,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,EFEMP1,EML6,EPCAM,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,KCNK12,LHCGR,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR559,MSH2,MSH6,MTIF2,NRXN1,PAPOLG,PNPT1,PPP1R21,PRORSD1P,PSME4,RPL23AP32,RPS27A,RTN4,SMEK2,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6,VRK2 chr2 47600000 61100000 Gain Breast cancer - 16397240 ACYP2,ASB3,BCL11A,C2orf73,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,EFEMP1,EML6,EPCAM,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,KCNK12,LHCGR,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR559,MSH2,MSH6,MTIF2,NRXN1,PAPOLG,PNPT1,PPP1R21,PRORSD1P,PSME4,RPL23AP32,RPS27A,RTN4,SMEK2,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6,VRK2 chr2 47600000 61100000 Gain Cancer array-based techniques 21183584 ACYP2,ASB3,BCL11A,C2orf73,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,EFEMP1,EML6,EPCAM,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,KCNK12,LHCGR,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR559,MSH2,MSH6,MTIF2,NRXN1,PAPOLG,PNPT1,PPP1R21,PRORSD1P,PSME4,RPL23AP32,RPS27A,RTN4,SMEK2,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6,VRK2 chr2 47600000 61100000 Gain Follicular lymphoma aCGH 20505157 ACYP2,ASB3,BCL11A,C2orf73,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,EFEMP1,EML6,EPCAM,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,KCNK12,LHCGR,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MIR559,MSH2,MSH6,MTIF2,NRXN1,PAPOLG,PNPT1,PPP1R21,PRORSD1P,PSME4,RPL23AP32,RPS27A,RTN4,SMEK2,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6,VRK2 chr2 47600000 70500000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 AAK1,ACTR2,ACYP2,AFTPH,AHSA2,ANTXR1,ANXA4,APLF,ARHGAP25,ASB3,ASPRV1,B3GNT2,BCL11A,BMP10,C1D,C2orf42,C2orf73,C2orf74,CCDC104,CCDC85A,CCDC88A,CCT4,CEP68,CHAC2,CLHC1,CNRIP1,COMMD1,DBIL5P2,EFEMP1,EHBP1,EML6,EPCAM,ERLEC1,ETAA1,FAM161A,FANCL,FBXO11,FBXO48,FLJ16341,FLJ30838,FOXN2,FSHR,GFPT1,GKN1,GKN2,GMCL1,GPR75,GPR75-ASB3,GTF2A1L,KCNK12,KIAA1841,LGALSL,LHCGR,LINC00309,LOC100132215,LOC100133985,LOC339803,LOC339807,LOC400958,LOC644838,MDH1,MEIS1,MEIS1-AS3,MIR216A,MIR216B,MIR217,MIR3126,MIR3682,MIR4426,MIR4432,MIR4434,MIR4778,MIR5192,MIR559,MSH2,MSH6,MTIF2,MXD1,NFU1,NRXN1,OTX1,PAPOLG,PCBP1,PCBP1-AS1,PCYOX1,PELI1,PEX13,PLEK,PNO1,PNPT1,PPP1R21,PPP3R1,PROKR1,PRORSD1P,PSME4,PUS10,RAB1A,REL,RPL23AP32,RPS27A,RTN4,SERTAD2,SLC1A4,SMEK2,SNORA36C,SNORA70B,SNRNP27,SPRED2,SPTBN1,STON1,STON1-GTF2A1L,TIA1,TMEM17,TSPYL6,UGP2,USP34,VPS54,VRK2,WDPCP,WDR92,XPO1 chr2 47601440 47651002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPCAM,MIR559,MSH2 chr2 47601440 47651002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPCAM,MIR559,MSH2 chr2 47604850 47684894 Amplification or deletion Cancer Array CGH 17440070 EPCAM,MIR559,MSH2 chr2 47630262 47710360 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 MSH2 chr2 47659568 47709121 Deletion T-cell lymphomas Array-CGH 22341440 MSH2 chr2 47659587 47709149 Gain and loss Pancreatic cancer SNP array 17952125 MSH2 chr2 47666625 47666698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSH2 chr2 47679700 47714101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MSH2 chr2 4769191 4804122 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 47711252 47713498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 47744655 47744755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 47747914 47797470 Gain Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 KCNK12 chr2 47771359 47771889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNK12 chr2 47771359 47771889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK12 chr2 47782237 47782337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNK12 chr2 47786111 47786622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNK12 chr2 47800000 52900000 Copy number Acute lymphoblastic leukemia human 500K SNP arrays 18768390 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Copy number Mental retardation References 19521722 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Copy number Neuroticism SNP array 17667963 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Copy number Schizophrenia References 19443537 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Deletion and duplication Schizophrenia DosageMiner software 18945720 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Deletion Autism Affymetrix 10K SNP arrays 17322880 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Deletion Schizophrenia Affymetrix GeneChip 250K SNP array 18940311 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Deletion Schizophrenia CGH screen 19348701 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Deletion Schizophrenia References 18990708 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Duplication Schizophrenia References 19571808 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 52900000 Loss Prostate cancer Array CGH 16573809 FBXO11,FOXN2,FSHR,GTF2A1L,LHCGR,MSH6,NRXN1,PPP1R21,STON1,STON1-GTF2A1L chr2 47800000 55000000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ACYP2,ASB3,C2orf73,CHAC2,EML6,ERLEC1,FBXO11,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,LHCGR,MIR3682,MSH6,NRXN1,PPP1R21,PSME4,RPL23AP32,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6 chr2 47800000 55000000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ACYP2,ASB3,C2orf73,CHAC2,EML6,ERLEC1,FBXO11,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,LHCGR,MIR3682,MSH6,NRXN1,PPP1R21,PSME4,RPL23AP32,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6 chr2 47800000 61300000 Copy number Hereditary non-polyposis colorectal cancer References 19566914 ACYP2,ASB3,BCL11A,C2orf73,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,EFEMP1,EML6,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,KIAA1841,LHCGR,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MSH6,MTIF2,NRXN1,PAPOLG,PEX13,PNPT1,PPP1R21,PRORSD1P,PSME4,PUS10,REL,RPL23AP32,RPS27A,RTN4,SMEK2,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6,VRK2 chr2 47800000 61300000 Gain Chronic lymphocytic leukemia 10k and 50k Affymetrix SNP arrays 17053054 ACYP2,ASB3,BCL11A,C2orf73,CCDC104,CCDC85A,CCDC88A,CHAC2,CLHC1,EFEMP1,EML6,ERLEC1,FANCL,FBXO11,FLJ16341,FLJ30838,FOXN2,FSHR,GPR75,GPR75-ASB3,GTF2A1L,KIAA1841,LHCGR,MIR216A,MIR216B,MIR217,MIR3682,MIR4426,MIR4432,MSH6,MTIF2,NRXN1,PAPOLG,PEX13,PNPT1,PPP1R21,PRORSD1P,PSME4,PUS10,REL,RPL23AP32,RPS27A,RTN4,SMEK2,SPTBN1,STON1,STON1-GTF2A1L,TSPYL6,VRK2 chr2 47805249 47806028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 47811952 47812735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47825000 48270000 Hemizygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 FBXO11,MSH6 chr2 47825000 48270000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 FBXO11,MSH6 chr2 47829506 47830048 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 47863724 47887596 Copy number Lung cancer - 20668451 NOT_FOUND chr2 47863724 47887596 Copy number Lynch syndrome Illumina BeadArrays and the GoldenGate assay 18415027 NOT_FOUND chr2 47863724 47887596 Deletion Endometrioid adenocarcinoma sequencing and Multiple Ligation probe analysis (MLPA) 18269114 NOT_FOUND chr2 47863724 47887596 Deletion Hereditary non-polyposis colorectal cancer sequencing and Multiple Ligation probe analysis (MLPA) 18269114 NOT_FOUND chr2 47863724 47887596 Deletion Non-syndromic sensorineural hearing loss MLPA 19173287 NOT_FOUND chr2 47863724 47887596 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 47863724 47887596 Gain or loss Cancer - 20668451 NOT_FOUND chr2 47863724 47887596 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 47863724 47887596 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 47863724 47887596 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 47863724 47887596 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 47863724 47887596 Genomic rearrangement Lynch syndrome MLPA 20937110 NOT_FOUND chr2 47863725 47887588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47863725 47887588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47869965 47986436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47869965 47986436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47878469 47878734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47881791 47887705 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 NOT_FOUND chr2 47887562 47986318 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 47887562 47986318 Gain or loss Cancer - 20668451 NOT_FOUND chr2 47887562 47986318 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 47887562 47986318 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 47887562 47986318 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 47887562 47986318 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 47921937 47945743 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 47921937 47945743 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 47945710 47978560 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 47945712 48044473 Gain and loss Pancreatic cancer SNP array 17952125 FBXO11,MSH6 chr2 47964098 47964552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 47981253 47981308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 48002672 48008618 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr2 4801097 5010948 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 NOT_FOUND chr2 48020381 48020861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MSH6 chr2 48022245 48022463 Gain and loss Pancreatic cancer SNP array 17952125 MSH6 chr2 48133763 48167114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 48200000 242951149 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM23,ADD2,ADRA2B,AFF3,AFTPH,AGAP1,AGFG1,AGPS,AGXT,AHSA2,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATOH8,ATP5G3,ATP6V1B1,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPG,CAPN10,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDCA7,CDK15,CDK5R2,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COMMD1,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DOK1,DPP10,DPP4,DQX1,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYSF,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EGR4,EHBP1,EIF2AK3,EIF4E2,EIF5B,ELMOD3,EML6,EMX1,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCSHP3,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KRCC1,KYNU,LANCL1,LBX2,LBX2-AS1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRRFIP1,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCEE,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MPHOSPH10,MPP4,MREG,MRPL19,MRPL30,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NRXN1,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,OTX1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PELI1,PER2,PEX13,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PRADC1,PRKAG3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PUS10,R3HDM1,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RQCD1,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THAP4,THNSL2,THSD7B,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TSPYL6,TTC21B,TTC30A,TTC30B,TTC31,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VPS54,VRK2,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XPO1,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 48200000 242951149 Loss Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM23,ADD2,ADRA2B,AFF3,AFTPH,AGAP1,AGFG1,AGPS,AGXT,AHSA2,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATOH8,ATP5G3,ATP6V1B1,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPG,CAPN10,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDCA7,CDK15,CDK5R2,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COMMD1,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DOK1,DPP10,DPP4,DQX1,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYSF,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EGR4,EHBP1,EIF2AK3,EIF4E2,EIF5B,ELMOD3,EML6,EMX1,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCSHP3,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KRCC1,KYNU,LANCL1,LBX2,LBX2-AS1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRRFIP1,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCEE,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MPHOSPH10,MPP4,MREG,MRPL19,MRPL30,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NRXN1,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,OTX1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PELI1,PER2,PEX13,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PRADC1,PRKAG3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PUS10,R3HDM1,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RQCD1,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THAP4,THNSL2,THSD7B,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TSPYL6,TTC21B,TTC30A,TTC30B,TTC31,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VPS54,VRK2,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XPO1,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 48200000 242951149 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM23,ADD2,ADRA2B,AFF3,AFTPH,AGAP1,AGFG1,AGPS,AGXT,AHSA2,ALMS1,ALMS1P,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANO7,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,AQP12A,AQP12B,ARHGAP15,ARHGAP25,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASB3,ASIC4,ASNSD1,ASPRV1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATOH8,ATP5G3,ATP6V1B1,AUP1,B3GALT1,B3GNT2,B3GNT7,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BMP10,BMPR2,BOK,BOK-AS1,BOLA3,BOLA3-AS1,BOLL,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf72,C2orf73,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPG,CAPN10,CASP10,CASP8,CBWD2,CCDC104,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC85A,CCDC88A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDCA7,CDK15,CDK5R2,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHAC2,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COMMD1,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DES,DFNB59,DGKD,DGUOK,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DOK1,DPP10,DPP4,DQX1,DTYMK,DUSP11,DUSP19,DUSP2,DUSP28,DYNC1I2,DYSF,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFEMP1,EFHD1,EGR4,EHBP1,EIF2AK3,EIF4E2,EIF5B,ELMOD3,EML6,EMX1,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERLEC1,ERMN,ESPNL,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FANCL,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FBXO41,FBXO48,FER1L5,FEV,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCSHP3,GFPT1,GGCX,GGT8P,GIGYF2,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GPR75,GPR75-ASB3,GRB14,GTDC1,GTF2A1L,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HK2,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,HTRA2,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KRCC1,KYNU,LANCL1,LBX2,LBX2-AS1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC644838,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRRFIP1,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCEE,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR216A,MIR216B,MIR217,MIR2355,MIR2467,MIR26B,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR3682,MIR375,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4426,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5000,MIR5001,MIR5192,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MPHOSPH10,MPP4,MREG,MRPL19,MRPL30,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTHFD2,MTIF2,MTX2,MXD1,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NFU1,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NRXN1,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,OTX1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PASK,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PELI1,PER2,PEX13,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R21,PPP1R7,PPP3R1,PRADC1,PRKAG3,PRKRA,PRLH,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PSME4,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,PUS10,R3HDM1,RAB11FIP5,RAB17,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP32,RPL23AP7,RPL31,RPL37A,RPRM,RPS27A,RQCD1,RTKN,RTN4,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEMA4F,SEPT10,SEPT2,SERPINE2,SERTAD2,SESTD1,SF3B1,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNED1,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SPR,SPRED2,SPTBN1,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STON1,STON1-GTF2A1L,STRADB,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THAP4,THNSL2,THSD7B,TIA1,TIGD1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TPRKB,TRABD2A,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TSPYL6,TTC21B,TTC30A,TTC30B,TTC31,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGP2,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP34,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VAX2,VIL1,VPS54,VRK2,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XPO1,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 48217564 48217664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4822170 4822202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 48236001 48237500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 48276348 48276537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 48276578 48276688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 48298218 48298542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 4831159 4831259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 48342168 48342268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 48356365 48356691 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 48356366 48356604 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 48395299 48459938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 48395299 48459938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 48421330 48421469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 48453521 48518085 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr2 48453521 48518085 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 48479476 48479616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 48479477 48479616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 48494507 48494607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 48521412 48596029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXN2 chr2 48521412 48596029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN2 chr2 4852466 4852620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 485250 485839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 48571411 48571511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXN2 chr2 48579559 48654175 Gain and loss Pancreatic cancer SNP array 17952125 FOXN2 chr2 48579559 48654176 Deletion T-cell lymphomas Array-CGH 22341440 FOXN2 chr2 48582565 48582667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXN2 chr2 48592993 48593182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FOXN2 chr2 48610026 48612560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 48610026 48612560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 48610568 48857142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2A1L,PPP1R21,STON1,STON1-GTF2A1L chr2 48610568 48857142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2A1L,PPP1R21,STON1,STON1-GTF2A1L chr2 48633501 48640300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 48635340 48638371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 48640712 48640814 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 48640713 48640814 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 48642329 48642429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4870264 4875073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 48704695 48711456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP1R21 chr2 48704713 48711350 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PPP1R21 chr2 48713503 48713996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP1R21 chr2 48719375 48871935 Gain and loss Pancreatic cancer SNP array 17952125 GTF2A1L,PPP1R21,STON1,STON1-GTF2A1L chr2 4873803 4873903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 48756599 48871938 Deletion T-cell lymphomas Array-CGH 22341440 GTF2A1L,STON1,STON1-GTF2A1L chr2 48759106 48778764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STON1,STON1-GTF2A1L chr2 48767416 48836384 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 STON1,STON1-GTF2A1L chr2 48767416 48836384 Gain or loss Breast cancer - 20668451 STON1,STON1-GTF2A1L chr2 48767416 48836384 Gain or loss Cancer - 20668451 STON1,STON1-GTF2A1L chr2 48767416 48836384 Gain or loss Lung cancer - 20668451 STON1,STON1-GTF2A1L chr2 48767416 48836384 Gain or loss Ovarian cancer - 20668451 STON1,STON1-GTF2A1L chr2 48767416 48836384 Gain or loss Pancreas cancer - 20668451 STON1,STON1-GTF2A1L chr2 48767416 48836384 Gain or loss Prostate cancer - 20668451 STON1,STON1-GTF2A1L chr2 48767425 48836373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STON1,STON1-GTF2A1L chr2 48767425 48836373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STON1,STON1-GTF2A1L chr2 48797765 52396645 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FSHR,GTF2A1L,LHCGR,NRXN1,STON1,STON1-GTF2A1L chr2 48825618 48894468 Deletion T-cell lymphomas Array-CGH 22341440 GTF2A1L,STON1,STON1-GTF2A1L chr2 48825618 48894468 Gain and loss Pancreatic cancer SNP array 17952125 GTF2A1L,STON1,STON1-GTF2A1L chr2 48844031 48844666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STON1-GTF2A1L chr2 48861245 48861538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2A1L,STON1-GTF2A1L chr2 48946762 50124714 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FSHR,LHCGR,STON1-GTF2A1L chr2 48953531 48953631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LHCGR,STON1-GTF2A1L chr2 48995905 48997230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STON1-GTF2A1L chr2 49003644 49003704 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STON1-GTF2A1L chr2 49042902 49235138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSHR chr2 49042902 49235138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSHR chr2 49043155 49235134 Copy number Lung cancer - 20668451 FSHR chr2 49043155 49235134 Gain or loss Breast cancer - 20668451 FSHR chr2 49043155 49235134 Gain or loss Cancer - 20668451 FSHR chr2 49043155 49235134 Gain or loss Lung cancer - 20668451 FSHR chr2 49043155 49235134 Gain or loss Ovarian cancer - 20668451 FSHR chr2 49043155 49235134 Gain or loss Pancreas cancer - 20668451 FSHR chr2 49043155 49235134 Gain or loss Prostate cancer - 20668451 FSHR chr2 49054052 49055377 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 49101303 49293281 Deletion T-cell lymphomas Array-CGH 22341440 FSHR chr2 49101303 49293281 Gain and loss Pancreatic cancer SNP array 17952125 FSHR chr2 49108127 49108227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 49136919 49137017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 49140230 49140322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 49184829 49229541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FSHR chr2 49208395 49208514 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FSHR chr2 49211534 49943526 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 FSHR chr2 4921729 5027140 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 49314437 49314542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSHR chr2 49339357 49876694 LOH Normal High-resolution SNP genotyping 21211785 FSHR chr2 49372584 49372689 Gain and loss Pancreatic cancer SNP array 17952125 FSHR chr2 49379784 49379884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSHR chr2 49389272 49394694 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 49394694 49399322 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 49414989 49415132 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 49414990 49415133 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 49429871 49475042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 49466387 49466709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 49492687 49492787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 49500000 51610000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 NRXN1 chr2 49511100 75725900 Gain Prostate cancer Array CGH 18632612 AAK1,ACTG2,ACTR2,ACYP2,ADD2,AFTPH,AHSA2,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ASB3,ASPRV1,ATP6V1B1,AUP1,B3GNT2,BCL11A,BMP10,BOLA3,BOLA3-AS1,C1D,C2orf42,C2orf65,C2orf73,C2orf74,C2orf78,C2orf81,CCDC104,CCDC142,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CEP68,CHAC2,CLEC4F,CLHC1,CNRIP1,COMMD1,CYP26B1,DBIL5P2,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,DUSP11,DYSF,EFEMP1,EGR4,EHBP1,EML6,EMX1,ERLEC1,ETAA1,EXOC6B,FAM136A,FAM161A,FAM176A,FANCL,FBXO41,FBXO48,FIGLA,FLJ16341,FLJ30838,GFPT1,GKN1,GKN2,GMCL1,GPR75,GPR75-ASB3,HK2,HTRA2,INO80B,INO80B-WBP1,KIAA1841,LBX2,LBX2-AS1,LGALSL,LINC00309,LOC100132215,LOC100133985,LOC339803,LOC339807,LOC400958,LOC644838,LOXL3,MCEE,MDH1,MEIS1,MEIS1-AS3,MIR216A,MIR216B,MIR217,MIR3126,MIR3682,MIR4426,MIR4432,MIR4434,MIR4778,MIR5000,MIR5192,MOB1A,MOGS,MPHOSPH10,MRPL53,MTHFD2,MTIF2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,NRXN1,OR7E91P,OTX1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PELI1,PEX13,PLEK,PNO1,PNPT1,POLE4,PPP3R1,PRADC1,PROKR1,PRORSD1P,PSME4,PUS10,RAB11FIP5,RAB1A,REL,RPL23AP32,RPS27A,RTKN,RTN4,SEMA4F,SERTAD2,SFXN5,SLC1A4,SLC4A5,SMEK2,SMYD5,SNORA36C,SNORA70B,SNRNP27,SNRPG,SPR,SPRED2,SPTBN1,STAMBP,TACR1,TET3,TEX261,TGFA,TIA1,TLX2,TMEM17,TPRKB,TSPYL6,TTC31,UGP2,USP34,VAX2,VPS54,VRK2,WBP1,WDPCP,WDR54,WDR92,XPO1,ZNF638 chr2 49514125 49514365 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 49529786 49544204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 49604317 50125320 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 4965012 4965237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 49688134 49688223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4970742 4970848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 49733354 49733449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 49733496 49733645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4977827 4990451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 49786355 49786455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 49825764 49825864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 49845119 49845164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 49851953 49852053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 4986012 4986112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 49959265 49960005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 49969510 49969628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 49970000 51610000 Copy number Cognitive impairment - 21505072 NRXN1 chr2 49988201 49989038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 49999148 51113178 Deletion Psychiatric disorder - 19734545 NRXN1 chr2 50000000 51600000 Copy number Cognitive impairment - 21505072 NRXN1 chr2 50000991 51113178 Copy number Autism References 20844286 NRXN1 chr2 50000991 51113178 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 NRXN1 chr2 50000991 51113178 Copy number Schizophrenia References 20718829 NRXN1 chr2 50000991 51113178 Deletion Autism References 19218893 NRXN1 chr2 50000991 51113178 Deletion Neuropsychiatric disorder Illustra GenomiPhi V2 DNA Amplification Kit 21827697 NRXN1 chr2 50000991 51113178 Deletion Schizophrenia - 22118685 NRXN1 chr2 50000991 51113178 Duplication Autism - 20663923 NRXN1 chr2 50000992 51113178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NRXN1 chr2 50000992 51113178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN1 chr2 500092 511378 Copy number Autism exome sequencing 22495311 NOT_FOUND chr2 50017499 50018067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 50027657 50027778 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 50034686 50977979 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 NRXN1 chr2 50050295 50050398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 50050309 50050398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 50059139 50486509 Gain and loss Pancreatic cancer SNP array 17952125 NRXN1 chr2 50108456 50108545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 50145643 51259674 Copy number Autism ref 20964600 NRXN1 chr2 50145643 51259674 Copy number Schizophrenia References 19521646 NRXN1 chr2 50145643 51259674 Duplication or deletion Attention deficit hyperactivity disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 NRXN1 chr2 50145643 51259674 Duplication or deletion Chronic motor tic disorder FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 NRXN1 chr2 50145643 51259674 Duplication or deletion Schizophrenia FISH,Affymetrix Genome-Wide Human SNP 6.0 assay 22214315 NRXN1 chr2 50145644 51259674 Deletion Mental retardation FISH and MLPA 19896112 NRXN1 chr2 50206975 50207054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50296796 50296896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50381577 50381667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 5039974 5061582 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 50409404 50409504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50430333 50785000 Loss Autism Array CGH 18522746 NRXN1 chr2 50485140 50767519 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NRXN1 chr2 50493827 50677835 Gain Autism qPCR 20531469 NRXN1 chr2 50532185 50532285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50539661 50556784 Deletion Autism Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 NRXN1 chr2 50539877 50730546 Loss Autism qPCR 20531469 NRXN1 chr2 50549105 54271149 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASB3,CHAC2,ERLEC1,GPR75,GPR75-ASB3,MIR3682,NRXN1,PSME4 chr2 50549172 50549271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50553180 50553294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRXN1 chr2 50562390 50562709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRXN1 chr2 50568258 50568333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50579352 50579352 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 NRXN1 chr2 50579352 50579352 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 NRXN1 chr2 50596953 51030259 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NRXN1 chr2 50600527 50645972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRXN1 chr2 50602462 50602612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50602553 50602633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50602703 50602773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50618229 50618329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50669332 50670057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN1 chr2 50682535 50865587 Deletion Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NRXN1 chr2 50703000 50961000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 NRXN1 chr2 50775422 51014967 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NRXN1 chr2 50776814 50776904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN1 chr2 50822312 50886363 Loss Autism qPCR 20531469 NRXN1 chr2 50822312 50900862 Gain Autism qPCR 20531469 NRXN1 chr2 50830356 50939853 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NRXN1 chr2 50870615 51020480 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NRXN1 chr2 50882439 50882503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50910084 50910320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN1 chr2 50912249 50955087 Loss Autism qPCR, Illumina1M 20531469 NRXN1 chr2 50912249 50974385 Loss Autism - 20841430 NRXN1 chr2 50929495 50929633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50929513 50929663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 50952423 51280162 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NRXN1 chr2 50967874 51873291 LOH Normal High-resolution SNP genotyping 21211785 NRXN1 chr2 50990306 51222043 Loss Autism qPCR 20531469 NRXN1 chr2 50999442 50999542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 51002576 51157742 Loss Autism qPCR 20531469 NRXN1 chr2 51021510 51021610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 51023934 51024028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN1 chr2 51033919 51034019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 51035262 51070122 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NRXN1 chr2 51041881 51041979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NRXN1 chr2 51052476 51182653 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NRXN1 chr2 51072619 51103413 Deletion Autism Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 NRXN1 chr2 51078052 51079046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NRXN1 chr2 51090539 51090639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 51100000 51350000 Loss Schizophrenia BAC array CGH 17989066 NRXN1 chr2 51109382 51109427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 51120644 51147600 Deletion Autism quantitative PCR 19404257 NRXN1 chr2 51162074 51162174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 51184983 51206128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NRXN1 chr2 51193365 51277533 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NRXN1 chr2 51223965 51364053 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NRXN1 chr2 51236117 51635693 Loss Bladder cancer array-CGH 21909424 NRXN1 chr2 51245757 51245857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NRXN1 chr2 5126628 5126953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 51266489 51461789 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 51325505 51325605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 5144323 5174835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 51471634 51802574 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr2 51515764 51515860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 51537773 51537833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 51591700 51592125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 5160456 5160531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 51605652 51605752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 51613326 51613466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 51625621 51625712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 51684707 51684807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 51780089 51781271 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 51780103 51781218 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 51780138 51781276 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 51797022 51797091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 51827327 51827738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 51831295 51956174 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 51855900 51856044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 51900525 51900625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 51949825 52117047 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 5196288 5196388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52006334 52006475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 52007524 52008004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 52048731 52083322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 5212560 5212660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52139472 52253660 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 5214604 5214704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52151997 52157839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 52163320 52163404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52183140 53211946 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52211003 52642884 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr2 52255792 52438112 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52266990 52437594 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 52378637 52378738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 52417662 52417762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52436784 52436882 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 52436784 52436883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 52472965 52473065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52534707 52635046 Copy number Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 52552627 52585416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 52554715 52555053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 52555506 53188400 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52555506 53236739 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52592721 52635046 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52595241 52605074 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 52595241 52635046 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52595241 52660978 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52597151 52638117 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52597151 52638117 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52597430 52641452 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 52597430 52641452 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr2 52600495 52638117 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52600495 52638117 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52601247 52637151 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr2 52601301 52640700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 52602921 52638820 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 52603073 52638746 Deletion Non-syndromic sensorineural hearing loss 370K1,610K,Agilent24M 19587683 NOT_FOUND chr2 52603073 52638746 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 52603190 52638768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 52604574 52639446 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52604574 52639446 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52605073 52635046 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52605073 52641453 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52605073 52654578 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52605073 52665691 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52605074 52612257 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 52605074 52635046 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 52607960 52634787 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52607960 52635034 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52607960 52635034 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52607960 52635034 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52607960 52641453 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52607960 52654578 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52608220 52634818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52612245 52634787 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52612245 52635034 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52612257 52635046 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 52612257 52635046 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 52613957 52637176 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr2 52613957 52637176 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr2 52618884 52635034 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 52636828 52712598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 52639031 52726188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 52639446 53165809 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52642095 71090403 Substitutions and indels small cell lung cancer array-CGH 20016488 AAK1,ACTR2,ACYP2,ADD2,AFTPH,AHSA2,ANTXR1,ANXA4,APLF,ARHGAP25,ASB3,ASPRV1,B3GNT2,BCL11A,BMP10,C1D,C2orf42,C2orf73,C2orf74,CCDC104,CCDC85A,CCDC88A,CCT4,CD207,CEP68,CHAC2,CLEC4F,CLHC1,CNRIP1,COMMD1,DBIL5P2,EFEMP1,EHBP1,EML6,ERLEC1,ETAA1,FAM136A,FAM161A,FANCL,FBXO48,FIGLA,FLJ16341,FLJ30838,GFPT1,GKN1,GKN2,GMCL1,GPR75,GPR75-ASB3,KIAA1841,LGALSL,LINC00309,LOC100132215,LOC100133985,LOC339803,LOC339807,LOC400958,LOC644838,MDH1,MEIS1,MEIS1-AS3,MIR216A,MIR216B,MIR217,MIR3126,MIR3682,MIR4426,MIR4432,MIR4434,MIR4778,MIR5192,MTIF2,MXD1,NFU1,OTX1,PAPOLG,PCBP1,PCBP1-AS1,PCYOX1,PELI1,PEX13,PLEK,PNO1,PNPT1,PPP3R1,PROKR1,PRORSD1P,PSME4,PUS10,RAB1A,REL,RPL23AP32,RPS27A,RTN4,SERTAD2,SLC1A4,SMEK2,SNORA36C,SNORA70B,SNRNP27,SNRPG,SPRED2,SPTBN1,TGFA,TIA1,TMEM17,TSPYL6,UGP2,USP34,VPS54,VRK2,WDPCP,WDR92,XPO1 chr2 52651269 52653169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 52657982 52697671 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 52659578 52701287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 52660498 52719547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 52661395 52697492 Loss or gain Normal 244K array 17666407 NOT_FOUND chr2 52679257 52679329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 52700000 54800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACYP2,ASB3,C2orf73,CHAC2,ERLEC1,GPR75,GPR75-ASB3,MIR3682,PSME4,RPL23AP32,SPTBN1,TSPYL6 chr2 52700000 54800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACYP2,ASB3,C2orf73,CHAC2,ERLEC1,GPR75,GPR75-ASB3,MIR3682,PSME4,RPL23AP32,SPTBN1,TSPYL6 chr2 52710385 52710720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 52710385 52710720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 52711263 53211946 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 52719590 52719690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52742806 52742956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52745058 53545553 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 52781831 52781916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52919965 52920055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 52962938 52963099 Loss Normal 244K array 17666407 NOT_FOUND chr2 52963885 52964097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 5297138 18147338 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,CPSF3,CYS1,DDX1,E2F6,FAM49A,FAM84A,FLJ33534,GEN1,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KCNS3,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC400940,LPIN1,MBOAT2,MIR3125,MIR4261,MIR4262,MIR4429,MSGN1,MYCN,MYCNOS,NBAS,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RAD51AP2,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SMC6,SNORA80B,SOX11,TAF1B,TRIB2,VSNL1,YWHAQ chr2 53008457 53008552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 53018894 53019023 Loss Normal 244K array 17666407 NOT_FOUND chr2 53037316 53043331 Gain Normal 244K array 17666407 NOT_FOUND chr2 531094 116135534 Gainc Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AAK1,ABCG5,ABCG8,ABHD1,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGBL5,AHSA2,ALK,ALLC,ALMS1,ALMS1P,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ARID5A,ASAP2,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BCL2L11,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,BUB1,C1D,C2orf15,C2orf16,C2orf18,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf48,C2orf49,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CBWD2,CCDC104,CCDC121,CCDC138,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHCHD5,CHMP3,CHST10,CIAO1,CIB4,CKAP2L,CLEC4F,CLHC1,CLIP4,CMPK2,CNGA3,CNNM3,CNNM4,CNRIP1,COA5,COLEC11,COMMD1,COX5B,COX7A2L,CPSF3,CREG2,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPP10,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP2,DYNC2LI1,DYSF,E2F6,EDAR,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM136A,FAM138B,FAM161A,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FNDC4,FOSL2,FOXD4L1,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCC2,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPAT2,GPN1,GPR113,GPR45,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,INO80B,INO80B-WBP1,INPP4A,ITGB1BP1,ITPRIPL1,ITSN2,KANSL3,KCMF1,KCNF1,KCNG3,KCNIP3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1211L,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LIPT1,LMAN2L,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506274,LOC100506421,LOC100506474,LOC100507334,LOC100630918,LOC150568,LOC150622,LOC151009,LOC1720,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC388942,LOC388948,LOC389023,LOC400940,LOC400958,LOC440894,LOC440895,LOC440900,LOC442028,LOC541471,LOC644838,LOC645949,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,LYG1,LYG2,MAL,MALL,MAP4K3,MAP4K4,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,MFSD2B,MFSD9,MGAT4A,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3127,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4757,MIR4765,MIR4772,MIR4778,MIR4779,MIR4780,MIR4782,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MIR5696,MITD1,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,MYT1L,NAGK,NAT8,NAT8B,NBAS,NCAPH,NCK2,NCOA1,NEURL3,NFU1,NLRC4,NMS,NOL10,NOTO,NPAS2,NPHP1,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDCL3,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POMC,POU3F3,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PROM2,PRORSD1P,PSD4,PSME4,PTCD3,PTRHD1,PUM2,PUS10,PXDN,QPCT,RAB10,RAB11FIP5,RAB1A,RABL2A,RAD51AP2,RANBP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RMND5A,RNASEH1,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,ROCK2,RPIA,RPL23AP32,RPL23AP7,RPL31,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4C,SEMA4F,SEPT10,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC1A4,SLC20A1,SLC30A3,SLC30A6,SLC35F5,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,ST6GAL2,STAMBP,STARD7,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUPT7L,TACR1,TAF1B,TBC1D8,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM17,TMEM178A,TMEM18,TMEM182,TMEM214,TMEM247,TMEM87B,TMSB10,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSPYL6,TSSC1,TTC27,TTC31,TTC32,TTC7A,TTL,TXNDC9,UBXN2A,UCN,UGP2,UNC50,UNQ6975,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WASH2P,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZAP70,ZC3H6,ZC3H8,ZFP36L2,ZNF2,ZNF512,ZNF513,ZNF514,ZNF638 chr2 53341420 76046638 Gain Developmental delay affymetrix genechip 500K/SNP 6.10 array 21147756 AAK1,ACTG2,ACTR2,ACYP2,ADD2,AFTPH,AHSA2,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ASB3,ASPRV1,ATP6V1B1,AUP1,B3GNT2,BCL11A,BMP10,BOLA3,BOLA3-AS1,C1D,C2orf42,C2orf65,C2orf73,C2orf74,C2orf78,C2orf81,CCDC104,CCDC142,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CEP68,CHAC2,CLEC4F,CLHC1,CNRIP1,COMMD1,CYP26B1,DBIL5P2,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,DUSP11,DYSF,EFEMP1,EGR4,EHBP1,EML6,EMX1,ERLEC1,ETAA1,EXOC6B,FAM136A,FAM161A,FAM176A,FANCL,FBXO41,FBXO48,FIGLA,FLJ16341,FLJ30838,GCFC2,GFPT1,GKN1,GKN2,GMCL1,GPR75,GPR75-ASB3,HK2,HTRA2,INO80B,INO80B-WBP1,KIAA1841,LBX2,LBX2-AS1,LGALSL,LINC00309,LOC100132215,LOC100133985,LOC339803,LOC339807,LOC400958,LOC644838,LOXL3,MCEE,MDH1,MEIS1,MEIS1-AS3,MIR216A,MIR216B,MIR217,MIR3126,MIR3682,MIR4426,MIR4432,MIR4434,MIR4778,MIR5000,MIR5192,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL53,MTHFD2,MTIF2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,OR7E91P,OTX1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PELI1,PEX13,PLEK,PNO1,PNPT1,POLE4,PPP3R1,PRADC1,PROKR1,PRORSD1P,PSME4,PUS10,RAB11FIP5,RAB1A,REL,RPL23AP32,RPS27A,RTKN,RTN4,SEMA4F,SERTAD2,SFXN5,SLC1A4,SLC4A5,SMEK2,SMYD5,SNORA36C,SNORA70B,SNRNP27,SNRPG,SPR,SPRED2,SPTBN1,STAMBP,TACR1,TET3,TEX261,TGFA,TIA1,TLX2,TMEM17,TPRKB,TSPYL6,TTC31,UGP2,USP34,VAX2,VPS54,VRK2,WBP1,WDPCP,WDR54,WDR92,XPO1,ZNF638 chr2 53409801 53415300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 53411598 53413291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 53412341 53412983 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 53460057 53460243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 53471828 53471928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 53477401 53483300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 53479267 53481503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 53485328 53485428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 5349505 5349655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 53551089 53551271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 53566786 53566922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 53609236 53609418 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 53613314 53940801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB3,GPR75-ASB3 chr2 53613314 53940801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB3,GPR75-ASB3 chr2 53634001 53636000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 53651015 53651121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 5366958 5367512 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 53686361 53686461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 53686795 55539162 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACYP2,ASB3,C2orf73,CCDC88A,CHAC2,CLHC1,EML6,ERLEC1,GPR75,GPR75-ASB3,MIR3682,MIR4426,MTIF2,PRORSD1P,PSME4,RPL23AP32,RPS27A,RTN4,SPTBN1,TSPYL6 chr2 53697316 53700142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 53709160 53709268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 53710178 53743428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 5371324 5371718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 53714266 54470907 LOH Normal High-resolution SNP genotyping 21211785 ACYP2,ASB3,CHAC2,ERLEC1,GPR75,GPR75-ASB3,MIR3682,PSME4 chr2 53750622 53940560 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASB3,GPR75-ASB3 chr2 53752337 53752523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 53796655 53796755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 53808769 53925730 Gain and loss Pancreatic cancer SNP array 17952125 ASB3,GPR75-ASB3 chr2 53848432 53855791 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 53848432 53855791 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr2 53848433 53855791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 53848433 53855791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 53862535 53862635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 53865332 53899680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASB3,GPR75-ASB3 chr2 53867571 53899999 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ASB3,GPR75-ASB3 chr2 53867691 53899437 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB3,GPR75-ASB3 chr2 53867691 53899437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB3,GPR75-ASB3 chr2 53903431 53903563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB3,GPR75-ASB3 chr2 53906603 53913982 Gain and loss Pancreatic cancer SNP array 17952125 ASB3,GPR75-ASB3 chr2 53920380 53920470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB3,GPR75-ASB3 chr2 53924691 53924791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASB3,GPR75-ASB3 chr2 53925868 53957584 Gain and loss Pancreatic cancer SNP array 17952125 ASB3,GPR75-ASB3 chr2 53933554 53940630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB3,GPR75-ASB3 chr2 53933554 53940630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB3,GPR75-ASB3 chr2 53944707 54051481 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ASB3,CHAC2,ERLEC1,GPR75-ASB3 chr2 53944708 54051481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB3,CHAC2,ERLEC1,GPR75-ASB3 chr2 53944708 54051481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB3,CHAC2,ERLEC1,GPR75-ASB3 chr2 53961578 53961710 Gain and loss Pancreatic cancer SNP array 17952125 ASB3,GPR75-ASB3 chr2 53978527 53978617 Gain and loss Pancreatic cancer SNP array 17952125 ASB3,GPR75-ASB3 chr2 53991922 53993544 Gain and loss Pancreatic cancer SNP array 17952125 ASB3,GPR75-ASB3 chr2 54003222 54109501 Gain and loss Pancreatic cancer SNP array 17952125 ASB3,ERLEC1,GPR75,GPR75-ASB3,MIR3682,PSME4 chr2 54029402 54029502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERLEC1,GPR75-ASB3 chr2 54037247 54037347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERLEC1,GPR75-ASB3 chr2 540491 587093 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 5405220 5405486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 54088345 54088445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 5410795 5410895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 54110193 54111323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSME4 chr2 54131975 54132401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PSME4 chr2 54189997 54190550 Gain and loss Pancreatic cancer SNP array 17952125 PSME4 chr2 54195914 54385937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACYP2,PSME4 chr2 54195914 54385937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACYP2,PSME4 chr2 54254061 54443931 Gain and loss Pancreatic cancer SNP array 17952125 ACYP2 chr2 54305734 54305790 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 54328168 56416774 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACYP2,C2orf73,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,MIR216A,MIR216B,MIR217,MIR4426,MTIF2,PNPT1,PRORSD1P,RPL23AP32,RPS27A,RTN4,SMEK2,SPTBN1,TSPYL6 chr2 54335560 54336792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 54335698 54335797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 54348724 54348803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACYP2 chr2 54356416 54410985 Gain Normal Birdsuite, version 1.5.2 22087296 ACYP2 chr2 54366719 54371235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACYP2 chr2 54367001 54367101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACYP2 chr2 54377831 54377967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACYP2 chr2 54393707 54394939 Gain and loss Pancreatic cancer SNP array 17952125 ACYP2 chr2 54398031 54398131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACYP2 chr2 54411543 54463835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACYP2 chr2 54411543 54463835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACYP2 chr2 54416901 54423000 Deletion Glioma mate-paired sequence 20126413 ACYP2 chr2 54418848 54421090 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ACYP2 chr2 54418998 54420974 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACYP2 chr2 54419132 54420976 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ACYP2 chr2 54469722 54500365 Gain and loss Pancreatic cancer SNP array 17952125 ACYP2,TSPYL6 chr2 5448267 5618952 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 54522669 54527087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACYP2 chr2 54531641 54531748 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACYP2 chr2 54536958 54752086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf73,SPTBN1 chr2 54536958 54752086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf73,SPTBN1 chr2 54544119 54568804 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C2orf73 chr2 54546983 54547246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 54560625 54560725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf73 chr2 54583283 54583338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf73 chr2 54595290 54807513 Gain and loss Pancreatic cancer SNP array 17952125 RPL23AP32,SPTBN1 chr2 54597716 54598092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 54609984 54610442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 54609984 54610442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 54634494 54634568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 54656720 54701708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPTBN1 chr2 54673430 54673497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 54676907 55021106 Loss Normal 244K array 17666407 EML6,RPL23AP32,SPTBN1 chr2 54725723 54725823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTBN1 chr2 54745789 54778625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPL23AP32,SPTBN1 chr2 54796319 54796389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTBN1 chr2 54800000 61100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Copy number camptodactyly Genome-Wide Human SNP Array 6.0 20799320 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Copy number cognitive delay Genome-Wide Human SNP Array 6.0 20799320 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Copy number Microcephaly Genome-Wide Human SNP Array 6.0 20799320 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Copy number prenatal and postnatal growth deficiency Genome-Wide Human SNP Array 6.0 20799320 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Copy number ptosis of eyelids Genome-Wide Human SNP Array 6.0 20799320 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Deletion Mental retardation References 19951919 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Gain Maculopathy Human Mapping 500K Array and SNP Array 5.0 20981449 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 61100000 Microdeletion 2p16.1 microdeletion syndrome MLPA 22283845 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PNPT1,PRORSD1P,RPS27A,RTN4,SMEK2,SPTBN1,VRK2 chr2 54800000 64000000 Microdeletion Autism Array CGH 22579565 AHSA2,B3GNT2,BCL11A,C2orf74,CCDC104,CCDC85A,CCDC88A,CCT4,CLHC1,COMMD1,DBIL5P2,EFEMP1,EHBP1,EML6,FAM161A,FANCL,FLJ16341,FLJ30838,KIAA1841,LOC100132215,LOC339803,MDH1,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MIR5192,MTIF2,OTX1,PAPOLG,PEX13,PNPT1,PRORSD1P,PUS10,REL,RPS27A,RTN4,SMEK2,SNORA70B,SPTBN1,TMEM17,USP34,VRK2,WDPCP,XPO1 chr2 54800000 64000000 Microdeletion Autism array CGH and FISH 16963482 AHSA2,B3GNT2,BCL11A,C2orf74,CCDC104,CCDC85A,CCDC88A,CCT4,CLHC1,COMMD1,DBIL5P2,EFEMP1,EHBP1,EML6,FAM161A,FANCL,FLJ16341,FLJ30838,KIAA1841,LOC100132215,LOC339803,MDH1,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MIR5192,MTIF2,OTX1,PAPOLG,PEX13,PNPT1,PRORSD1P,PUS10,REL,RPS27A,RTN4,SMEK2,SNORA70B,SPTBN1,TMEM17,USP34,VRK2,WDPCP,XPO1 chr2 54800000 64000000 Microdeletion idiopathic intellectual disability array CGH and FISH 16963482 AHSA2,B3GNT2,BCL11A,C2orf74,CCDC104,CCDC85A,CCDC88A,CCT4,CLHC1,COMMD1,DBIL5P2,EFEMP1,EHBP1,EML6,FAM161A,FANCL,FLJ16341,FLJ30838,KIAA1841,LOC100132215,LOC339803,MDH1,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MIR5192,MTIF2,OTX1,PAPOLG,PEX13,PNPT1,PRORSD1P,PUS10,REL,RPS27A,RTN4,SMEK2,SNORA70B,SPTBN1,TMEM17,USP34,VRK2,WDPCP,XPO1 chr2 54800000 83700000 Amplification Carcinoma ex pleomorphic adenoma array-CGH 18828159 AAK1,ACTG2,ACTR2,ADD2,AFTPH,AHSA2,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ASPRV1,ATP6V1B1,AUP1,B3GNT2,BCL11A,BMP10,BOLA3,BOLA3-AS1,C1D,C2orf42,C2orf65,C2orf74,C2orf78,C2orf81,CCDC104,CCDC142,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CEP68,CLEC4F,CLHC1,CNRIP1,COMMD1,CTNNA2,CYP26B1,DBIL5P2,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,DUSP11,DYSF,EFEMP1,EGR4,EHBP1,EML6,EMX1,ETAA1,EXOC6B,FAM136A,FAM161A,FAM176A,FANCL,FBXO41,FBXO48,FIGLA,FLJ16341,FLJ30838,GCFC2,GFPT1,GKN1,GKN2,GMCL1,HK2,HTRA2,INO80B,INO80B-WBP1,KIAA1841,LBX2,LBX2-AS1,LGALSL,LINC00309,LOC100132215,LOC100133985,LOC1720,LOC339803,LOC339807,LOC400958,LOC644838,LOXL3,LRRTM1,LRRTM4,MCEE,MDH1,MEIS1,MEIS1-AS3,MIR216A,MIR216B,MIR217,MIR3126,MIR4264,MIR4426,MIR4432,MIR4434,MIR4778,MIR5000,MIR5192,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL53,MTHFD2,MTIF2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,OR7E91P,OTX1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PELI1,PEX13,PLEK,PNO1,PNPT1,POLE4,PPP3R1,PRADC1,PROKR1,PRORSD1P,PUS10,RAB11FIP5,RAB1A,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RPS27A,RTKN,RTN4,SEMA4F,SERTAD2,SFXN5,SLC1A4,SLC4A5,SMEK2,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNRNP27,SNRPG,SPR,SPRED2,SPTBN1,STAMBP,TACR1,TET3,TEX261,TGFA,TIA1,TLX2,TMEM17,TPRKB,TTC31,UGP2,USP34,VAX2,VPS54,VRK2,WBP1,WDPCP,WDR54,WDR92,XPO1,ZNF638 chr2 54805652 55052658 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EML6,SPTBN1 chr2 54805703 55009023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML6,SPTBN1 chr2 54807815 54808048 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPTBN1 chr2 54815860 54815960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTBN1 chr2 54845835 54845935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTBN1 chr2 54855103 54855165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTBN1 chr2 54864984 54865084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPTBN1 chr2 54959176 55110805 Gain and loss Pancreatic cancer SNP array 17952125 EML6 chr2 54976182 55010814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EML6 chr2 54984008 54984107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML6 chr2 54990975 55087598 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 EML6 chr2 55000000 61300000 Gain and amplification Multiple myeloma Array CGH 16616336 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,KIAA1841,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PEX13,PNPT1,PRORSD1P,PUS10,REL,RPS27A,RTN4,SMEK2,VRK2 chr2 55000000 61300000 Gain Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 BCL11A,CCDC104,CCDC85A,CCDC88A,CLHC1,EFEMP1,EML6,FANCL,FLJ16341,FLJ30838,KIAA1841,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MTIF2,PAPOLG,PEX13,PNPT1,PRORSD1P,PUS10,REL,RPS27A,RTN4,SMEK2,VRK2 chr2 55000000 64100000 Gain Follicular lymphoma Affymetrix 50K-XbaI oligonucleotide SNP chip 17699855 AHSA2,B3GNT2,BCL11A,C2orf74,CCDC104,CCDC85A,CCDC88A,CCT4,CLHC1,COMMD1,DBIL5P2,EFEMP1,EHBP1,EML6,FAM161A,FANCL,FLJ16341,FLJ30838,KIAA1841,LOC100132215,LOC339803,MDH1,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MIR5192,MTIF2,OTX1,PAPOLG,PEX13,PNPT1,PRORSD1P,PUS10,REL,RPS27A,RTN4,SMEK2,SNORA70B,TMEM17,UGP2,USP34,VRK2,WDPCP,XPO1 chr2 55009122 55047494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EML6 chr2 55009122 55047494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML6 chr2 55016728 55016810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML6 chr2 55038993 55039093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML6 chr2 55052829 55131468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EML6 chr2 55052829 55131468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML6 chr2 55052830 55131238 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EML6 chr2 55075151 55109219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EML6 chr2 55088956 55239201 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 EML6,RTN4 chr2 55095058 55095160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EML6 chr2 55110976 55189615 Gain and loss Pancreatic cancer SNP array 17952125 EML6 chr2 55116436 55116596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML6 chr2 55116596 55116807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML6 chr2 55153205 55153307 Gain and loss Pancreatic cancer SNP array 17952125 EML6 chr2 55153205 55153309 Gain and loss Pancreatic cancer SNP array 17952125 EML6 chr2 55156310 55156390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EML6 chr2 55183805 55210819 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EML6,RTN4 chr2 55203684 55203784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTN4 chr2 55256289 55313203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTN4 chr2 55256289 55313203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTN4 chr2 55278004 55278103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 55304920 55306548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55312543 55316395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55312543 55316395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55314000 64914000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 AFTPH,AHSA2,B3GNT2,BCL11A,C2orf74,CCDC104,CCDC85A,CCDC88A,CCT4,CLHC1,COMMD1,DBIL5P2,EFEMP1,EHBP1,FAM161A,FANCL,FLJ16341,FLJ30838,KIAA1841,LGALSL,LINC00309,LOC100132215,LOC339803,LOC339807,MDH1,MIR216A,MIR216B,MIR217,MIR4426,MIR4432,MIR4434,MIR5192,MTIF2,OTX1,PAPOLG,PELI1,PEX13,PNPT1,PRORSD1P,PUS10,REL,RPS27A,SERTAD2,SMEK2,SNORA70B,TMEM17,UGP2,USP34,VPS54,VRK2,WDPCP,XPO1 chr2 55314437 55371100 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 55317235 55349888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55317235 55349888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55317259 55349888 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 5532261 5532325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 55328822 55328922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 55361712 55361812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 55364659 55365110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55364659 55365110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55366658 55366768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55368482 55500467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLHC1,MIR4426,MTIF2,RPS27A chr2 55368482 55500467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLHC1,MIR4426,MTIF2,RPS27A chr2 55368483 55500561 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CLHC1,MIR4426,MTIF2,RPS27A chr2 55370421 55393219 Copy number Autism - 20685689 NOT_FOUND chr2 55370421 55393219 Copy number cervicovaginal lavage PCR 20877625 NOT_FOUND chr2 55371475 55374396 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 55375435 55402645 Gain and loss Pancreatic cancer SNP array 17952125 CLHC1 chr2 55421141 55423212 Gain and loss Pancreatic cancer SNP array 17952125 CLHC1 chr2 55424805 55424913 Gain and loss Pancreatic cancer SNP array 17952125 CLHC1 chr2 55426884 55558400 Gain and loss Pancreatic cancer SNP array 17952125 CCDC88A,CLHC1,MIR4426,MTIF2,PRORSD1P,RPS27A chr2 55481143 55481417 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MTIF2 chr2 55490819 55571085 Gain Autism Inheritance 20685689 CCDC88A,MTIF2,PRORSD1P chr2 55515794 55516262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88A chr2 55535576 55535676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC88A chr2 55536746 55536842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88A chr2 55551684 55761984 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CCDC104,CCDC88A chr2 55580590 55580654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88A chr2 55589791 55589880 Gain and loss Pancreatic cancer SNP array 17952125 CCDC88A chr2 55592737 55592837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC88A chr2 55594893 55594989 Gain and loss Pancreatic cancer SNP array 17952125 CCDC88A chr2 55600243 55625720 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CCDC88A chr2 55600286 55625719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC88A chr2 55600286 55625719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88A chr2 5562727 5562914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 55629017 55698300 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CCDC88A chr2 55629018 55698262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC88A chr2 55629018 55698262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88A chr2 55638737 55638801 Gain and loss Pancreatic cancer SNP array 17952125 CCDC88A chr2 55646343 55646490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC88A chr2 55658391 55683865 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 55658890 55892725 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC104,PNPT1,SMEK2 chr2 55660060 55660130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55687166 55756400 Gain and loss Pancreatic cancer SNP array 17952125 CCDC104 chr2 55714701 55774515 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CCDC104 chr2 55715971 55774476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC104 chr2 55715971 55774476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC104 chr2 55718207 55718277 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 5572044 5586794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 5572413 5597439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 5574587 5608492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 55771040 55771140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC104 chr2 55771379 55771479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC104 chr2 55774118 55832610 Gain and loss Pancreatic cancer SNP array 17952125 SMEK2 chr2 55808548 55893392 Copy number Lung cancer - 20668451 PNPT1,SMEK2 chr2 55808548 55893392 Gain or loss Breast cancer - 20668451 PNPT1,SMEK2 chr2 55808548 55893392 Gain or loss Cancer - 20668451 PNPT1,SMEK2 chr2 55808548 55893392 Gain or loss Lung cancer - 20668451 PNPT1,SMEK2 chr2 55808548 55893392 Gain or loss Ovarian cancer - 20668451 PNPT1,SMEK2 chr2 55808548 55893392 Gain or loss Pancreas cancer - 20668451 PNPT1,SMEK2 chr2 55808548 55893392 Gain or loss Prostate cancer - 20668451 PNPT1,SMEK2 chr2 55905501 55907000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PNPT1 chr2 55924612 55924901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 55937031 55937347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 55946607 56004436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55946607 56004436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 55961959 55962059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 55973522 55973597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 55996502 58373034 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC85A,EFEMP1,MIR216A,MIR216B,MIR217,VRK2 chr2 55998673 55998858 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 56004748 56062573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 56022220 56055798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 56032330 56032653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 56033568 57661658 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CCDC85A,EFEMP1,MIR216A,MIR216B,MIR217 chr2 56063606 56063715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 56069589 56069698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 56081353 56081434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 56090090 56384045 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EFEMP1,MIR216A,MIR216B,MIR217 chr2 56090490 56090800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 56090567 56090800 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 56091146 56091146 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr2 56091146 56091146 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 NOT_FOUND chr2 56111433 56115496 Loss Normal 244K array 17666407 EFEMP1 chr2 561173 1139260 LOH Normal High-resolution SNP genotyping 21211785 LOC339822,SNTG2,TMEM18 chr2 56121753 56121862 Gain and loss Pancreatic cancer SNP array 17952125 EFEMP1 chr2 56127736 56127845 Gain and loss Pancreatic cancer SNP array 17952125 EFEMP1 chr2 56135608 56135708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFEMP1 chr2 56146987 56147087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFEMP1 chr2 56149689 56178949 Gain Normal Birdsuite, version 1.5.2 22087296 EFEMP1 chr2 56178949 56178950 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 56178950 56181532 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 56181532 56241717 Gain Normal Birdsuite, version 1.5.2 22087296 MIR216A,MIR216B,MIR217 chr2 56191952 56194625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 5621576 5621676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 56264762 56466813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC85A chr2 56264762 56466813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC85A chr2 56300000 129600000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 AAK1,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ADD2,ADRA2B,AFF3,AFTPH,AHSA2,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ARID5A,ASPRV1,ASTL,ATOH8,ATP6V1B1,AUP1,B3GNT2,BCL11A,BCL2L11,BIN1,BMP10,BOLA3,BOLA3-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf29,C2orf40,C2orf42,C2orf49,C2orf65,C2orf68,C2orf74,C2orf76,C2orf78,C2orf81,CAPG,CBWD2,CCDC138,CCDC142,CCDC85A,CCDC93,CCT4,CCT7,CD207,CD8A,CD8B,CEP68,CHCHD5,CHMP3,CHST10,CIAO1,CKAP2L,CLASP1,CLEC4F,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COMMD1,COX5B,CREG2,CTNNA2,CYP26B1,CYP27C1,DBI,DBIL5P2,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DGUOK,DNAH6,DOK1,DPP10,DQX1,DUSP11,DUSP2,DYSF,EDAR,EGR4,EHBP1,EIF2AK3,EIF5B,ELMOD3,EMX1,EN1,EPB41L5,ERCC3,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM136A,FAM138B,FAM161A,FAM176A,FAM178B,FANCL,FBLN7,FBXO41,FBXO48,FER1L5,FHL2,FIGLA,FLJ16341,FLJ30838,FLJ42351,FOXD4L1,FOXI3,FUNDC2P2,GCC2,GCFC2,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GPAT2,GPR17,GPR45,GYPC,HK2,HS6ST1,HTRA2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCMF1,KCNIP3,KDM3A,KIAA1211L,KIAA1841,KRCC1,LBX2,LBX2-AS1,LGALSL,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LIPT1,LMAN2L,LOC100132215,LOC100133985,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC100630918,LOC150568,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC339803,LOC339807,LOC389023,LOC400958,LOC440894,LOC440895,LOC440900,LOC442028,LOC541471,LOC644838,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRRTM1,LRRTM4,LYG1,LYG2,MAL,MALL,MAP3K2,MAP4K4,MARCO,MAT2A,MCEE,MDH1,MEIS1,MEIS1-AS3,MERTK,MFSD9,MGAT4A,MIR3126,MIR3127,MIR4264,MIR4265,MIR4266,MIR4267,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4772,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR5000,MIR5192,MIR5696,MITD1,MKI67IP,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL30,MRPL35,MRPL53,MRPS5,MRPS9,MTHFD2,MXD1,MYO7B,NAGK,NAT8,NAT8B,NCAPH,NCK2,NEURL3,NFU1,NMS,NOTO,NPAS2,NPHP1,OR7E91P,OTX1,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PELI1,PEX13,PLEK,PLGLA,PLGLB1,PLGLB2,PNO1,POLE4,POLR1A,POLR1B,POLR2D,POU3F3,PPP3R1,PRADC1,PROC,PROKR1,PROM2,PSD4,PTCD3,PTPN4,PUS10,RAB11FIP5,RAB1A,RABL2A,RALB,RANBP2,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RMND5A,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RPIA,RPL23AP7,RPL31,RTKN,SAP130,SCTR,SEMA4C,SEMA4F,SEPT10,SERTAD2,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SLC1A4,SLC20A1,SLC35F5,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SPR,SPRED2,ST3GAL5,ST6GAL2,STAMBP,STARD7,STEAP3,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TACR1,TBC1D8,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THNSL2,TIA1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM17,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TMSB10,TPRKB,TRABD2A,TRIM43,TRIM43B,TSGA10,TSN,TTC31,TTL,TXNDC9,UGGT1,UGP2,UNC50,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VPS54,VRK2,VWA3B,WASH2P,WBP1,WDPCP,WDR33,WDR54,WDR92,XPO1,ZAP70,ZC3H6,ZC3H8,ZNF2,ZNF514,ZNF638 chr2 56300000 182700000 Loss Seminomas CGH, Comparative expressed sequence hybridisation 18059402 AAK1,ABCB11,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ADD2,ADRA2B,AFF3,AFTPH,AGPS,AHSA2,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP15,ARHGAP25,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASPRV1,ASTL,ATF2,ATOH8,ATP5G3,ATP6V1B1,AUP1,B3GALT1,B3GNT2,BAZ2B,BBS5,BCL11A,BCL2L11,BIN1,BMP10,BOLA3,BOLA3-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf49,C2orf65,C2orf68,C2orf74,C2orf76,C2orf78,C2orf81,CACNB4,CAPG,CBWD2,CCDC115,CCDC138,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC85A,CCDC93,CCNT2,CCT4,CCT7,CD207,CD302,CD8A,CD8B,CDCA7,CEP68,CERKL,CERS6,CFC1,CFC1B,CHCHD5,CHMP3,CHN1,CHRNA1,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COBLL1,COMMD1,COX5B,CREG2,CSRNP3,CTNNA2,CWC22,CXCR4,CYBRD1,CYP26B1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DFNB59,DGUOK,DHRS9,DKFZp686O1327,DLX1,DLX2,DNAH6,DOK1,DPP10,DPP4,DQX1,DUSP11,DUSP2,DYNC1I2,DYSF,EDAR,EGR4,EHBP1,EIF2AK3,EIF5B,ELMOD3,EMX1,EN1,EPB41L5,EPC2,ERCC3,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM136A,FAM138B,FAM161A,FAM168B,FAM176A,FAM178B,FANCL,FAP,FASTKD1,FBLN7,FBXO41,FBXO48,FER1L5,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FMNL2,FOXD4L1,FOXI3,FUNDC2P2,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GORASP2,GPAT2,GPD2,GPR148,GPR155,GPR17,GPR39,GPR45,GRB14,GTDC1,GYPC,HAT1,HK2,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HTRA2,IFIH1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITGA4,ITGA6,ITGB6,ITPRIPL1,IWS1,KANSL3,KBTBD10,KCMF1,KCNH7,KCNIP3,KCNJ3,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF5C,KLHL23,KRCC1,KYNU,LBX2,LBX2-AS1,LCT,LGALSL,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LIPT1,LMAN2L,LOC100129961,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100144595,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507334,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC375295,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K4,MARCH7,MARCO,MAT2A,MBD5,MCEE,MCM6,MDH1,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL5,METTL8,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1246,MIR1258,MIR128-1,MIR3126,MIR3127,MIR3128,MIR3679,MIR4264,MIR4265,MIR4266,MIR4267,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548N,MIR5696,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL30,MRPL35,MRPL53,MRPS5,MRPS9,MTHFD2,MTX2,MXD1,MYO3B,MYO7B,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NCAPH,NCK2,NCKAP5,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NMI,NMS,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NXPH2,OLA1,OR7E91P,ORC4,OSBPL6,OTX1,PABPC1P2,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PDE11A,PDK1,PELI1,PEX13,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLEK,PLEKHA3,PLEKHB2,PLGLA,PLGLB1,PLGLB2,PNO1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PPIG,PPP3R1,PRADC1,PRKRA,PROC,PROKR1,PROM2,PRPF40A,PSD4,PSMD14,PTCD3,PTPN18,PTPN4,PUS10,R3HDM1,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RBM43,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RNU6-81,RPIA,RPL23AP7,RPL31,RPRM,RTKN,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SEMA4C,SEMA4F,SEPT10,SERTAD2,SESTD1,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SLC1A4,SLC20A1,SLC25A12,SLC35F5,SLC38A11,SLC4A10,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA70F,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SP3,SP5,SP9,SPC25,SPOPL,SPR,SPRED2,SSB,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STEAP3,STK39,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THNSL2,THSD7B,TIA1,TISP43,TLK1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TMSB10,TNFAIP6,TPRKB,TRABD2A,TRIM43,TRIM43B,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTC31,TTL,TTN,TTN-AS1,TUBA3D,TUBA3E,TXNDC9,UBE2E3,UBR3,UBXN4,UGGT1,UGP2,UNC50,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VPS54,VRK2,VWA3B,WASH2P,WBP1,WDPCP,WDR33,WDR54,WDR92,WDSUB1,WIPF1,WTH3DI,XIRP2,XPO1,YSK4,ZAK,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZNF2,ZNF385B,ZNF514,ZNF638,ZRANB3 chr2 56300000 230700000 Loss Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 AAK1,AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ADAM23,ADD2,ADRA2B,AFF3,AFTPH,AGFG1,AGPS,AHSA2,ALMS1,ALMS1P,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKRD53,ANKZF1,ANTXR1,ANXA4,AOX1,AOX2P,AP1S3,APLF,ARHGAP15,ARHGAP25,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ARPC2,ASIC4,ASNSD1,ASPRV1,ASTL,ATF2,ATG9A,ATIC,ATOH8,ATP5G3,ATP6V1B1,AUP1,B3GALT1,B3GNT2,BARD1,BAZ2B,BBS5,BCL11A,BCL2L11,BCS1L,BIN1,BMP10,BMPR2,BOLA3,BOLA3-AS1,BOLL,BUB1,BZW1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf47,C2orf49,C2orf62,C2orf65,C2orf66,C2orf68,C2orf69,C2orf74,C2orf76,C2orf78,C2orf80,C2orf81,C2orf83,C2orf88,CACNB4,CALCRL,CAPG,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC85A,CCDC93,CCL20,CCNT2,CCNYL1,CCT4,CCT7,CD207,CD28,CD302,CD8A,CD8B,CDCA7,CDK15,CDK5R2,CEP68,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNRIP1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COMMD1,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CYBRD1,CYP20A1,CYP26B1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DES,DFNB59,DGUOK,DHRS9,DIRC1,DIRC3,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJC10,DNER,DNPEP,DOCK10,DOK1,DPP10,DPP4,DQX1,DUSP11,DUSP19,DUSP2,DYNC1I2,DYSF,DYTN,EDAR,EEF1B2,EGR4,EHBP1,EIF2AK3,EIF5B,ELMOD3,EMX1,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FANCL,FAP,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO41,FBXO48,FER1L5,FEV,FHL2,FIGLA,FIGN,FKBP7,FLJ16341,FLJ30838,FLJ42351,FMNL2,FN1,FONG,FOXD4L1,FOXI3,FRZB,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GCSHP3,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLB1L,GLI2,GLS,GMCL1,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR39,GPR45,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HECW2,HIBCH,HK2,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTRA2,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHA,INHBB,INO80B,INO80B-WBP1,INO80D,INPP1,INPP4A,INSIG2,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNH7,KCNIP3,KCNJ3,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIAA1841,KIF5C,KLF7,KLHL23,KRCC1,KYNU,LANCL1,LBX2,LBX2-AS1,LCT,LGALSL,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100144595,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC151009,LOC1720,LOC200726,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339803,LOC339807,LOC375295,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCEE,MCM6,MDH1,MDH1B,MEIS1,MEIS1-AS3,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR153-1,MIR2355,MIR26B,MIR3126,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOB4,MOGAT1,MOGS,MPHOSPH10,MPP4,MREG,MRPL19,MRPL30,MRPL35,MRPL44,MRPL53,MRPS5,MRPS9,MSTN,MTHFD2,MTX2,MXD1,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NAGK,NAT8,NAT8B,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NDUFB3,NDUFS1,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NHEJ1,NIF3L1,NMI,NMS,NOP58,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR7E91P,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTX1,PABPC1P2,PAIP2B,PAPOLG,PARD3B,PAX3,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGEM1,PCGF1,PCYOX1,PDCL3,PDE11A,PDE1A,PDK1,PECR,PELI1,PEX13,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEK,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,PNO1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PPIG,PPIL3,PPP1R1C,PPP3R1,PRADC1,PRKAG3,PRKRA,PROC,PROKR1,PROM2,PRPF40A,PSD4,PSMD14,PTCD3,PTH2R,PTPN18,PTPN4,PTPRN,PUS10,R3HDM1,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNF25,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RTKN,RUFY4,SAP130,SATB2,SATB2-AS1,SCG2,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEMA4F,SEPT10,SERPINE2,SERTAD2,SESTD1,SF3B1,SFT2D3,SFTPB,SFXN5,SGOL2,SGPP2,SH2D6,SH3RF3,SH3RF3-AS1,SLC11A1,SLC19A3,SLC1A4,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA41,SNORA70B,SNORA70F,SNORD11,SNORD11B,SNORD51,SNORD70,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SP3,SP5,SP9,SPAG16,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPR,SPRED2,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK36,STK39,STRADB,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TFPI,TGFA,TGFBRAP1,TGOLN2,THNSL2,THSD7B,TIA1,TISP43,TLK1,TLX2,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM17,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TPRKB,TRABD2A,TRAK2,TRIM43,TRIM43B,TRIP12,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTC31,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TXNDC9,TYW5,UBE2E3,UBR3,UBXN4,UGGT1,UGP2,UNC50,UNC80,UPP2,USP34,USP37,USP39,UXS1,VAMP5,VAMP8,VAX2,VIL1,VPS54,VRK2,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WBP1,WDFY1,WDPCP,WDR12,WDR33,WDR54,WDR69,WDR75,WDR92,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XPO1,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 5630350 5663919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 56314810 56323631 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 56315856 56315969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 56322909 56524959 Gain and loss Pancreatic cancer SNP array 17952125 CCDC85A chr2 56374013 56374112 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 56374027 56374116 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 56376586 56376686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 56474305 56474405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC85A chr2 56501012 56510016 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CCDC85A chr2 56502904 56509204 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CCDC85A chr2 56504128 56509197 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CCDC85A chr2 56505807 56509385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC85A chr2 565179 604168 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 56553603 56576050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC85A chr2 56570948 56613835 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CCDC85A chr2 56571336 56762849 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CCDC85A chr2 56577235 56577412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC85A chr2 56584392 57290328 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC85A chr2 56650781 56652634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 56697602 56697702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 56703615 56703937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 56754552 56754652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 56769898 56769968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 56830939 56831202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 56872703 56872875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 56934834 56934934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 56941515 56967019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 56955001 56956500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 57098413 57098513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57103651 57138807 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 5714000 5751670 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr2 57165001 57166000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 57196182 57400047 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 57196234 57196560 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 57225501 57228000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 57247860 57247960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57247965 57248168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57251134 57301357 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 57251134 57301357 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 57287284 57287418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 57297501 57298500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 57329046 57329099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57346542 57361181 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr2 5739464 5739559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57429935 57437677 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 57431250 57480957 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 57431262 57480957 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 57433301 57435479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 57451768 57574406 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 57478001 57479000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 57484829 57638370 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 5750250 5758967 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 5750250 5758967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 5750250 5758967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 57535320 57543537 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 575614 606686 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 57595300 61591838 Deletion Normal - 21701786 AHSA2,BCL11A,C2orf74,FANCL,FLJ16341,FLJ30838,KIAA1841,LOC339803,MIR4432,PAPOLG,PEX13,PUS10,REL,USP34,VRK2 chr2 57602349 57602424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57625174 57625238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 57625311 59320833 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FANCL,FLJ30838,VRK2 chr2 57700090 57700159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57736086 57795525 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 57736086 57797003 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 57794804 58999635 LOH Normal High-resolution SNP genotyping 21211785 FANCL,FLJ30838,VRK2 chr2 57795010 58894219 LOH Normal High-resolution SNP genotyping 21211785 FANCL,FLJ30838,VRK2 chr2 5783397 5792114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 57839251 58356264 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-321K arrays 21546498 VRK2 chr2 5785041 5785341 Loss Osteosarcoma References 21215367 NOT_FOUND chr2 57850958 57851017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 578726 605425 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 57898741 57898841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57930001 57931500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 57941419 57941519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57946159 57946259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 57971048 57971148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 58022960 58297575 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-329K arrays 21546498 VRK2 chr2 58058156 58060269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 5805898 6119949 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 LOC150622,SOX11 chr2 58113819 58113919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 58127224 58240505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 58127224 58240505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 58127295 58240427 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 58146628 61577241 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-375K arrays 21546498 AHSA2,BCL11A,C2orf74,FANCL,FLJ16341,FLJ30838,KIAA1841,LOC339803,MIR4432,PAPOLG,PEX13,PUS10,REL,USP34,VRK2 chr2 58179071 58321485 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 VRK2 chr2 58185477 58298654 Gain and loss Pancreatic cancer SNP array 17952125 VRK2 chr2 58239881 58322019 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 VRK2 chr2 58239881 58322019 Gain or loss Breast cancer - 20668451 VRK2 chr2 58239881 58322019 Gain or loss Cancer - 20668451 VRK2 chr2 58239881 58322019 Gain or loss Lung cancer - 20668451 VRK2 chr2 58239881 58322019 Gain or loss Ovarian cancer - 20668451 VRK2 chr2 58239881 58322019 Gain or loss Pancreas cancer - 20668451 VRK2 chr2 58239881 58322019 Gain or loss Prostate cancer - 20668451 VRK2 chr2 58239882 58322018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VRK2 chr2 58239882 58322018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VRK2 chr2 5824493 5858800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SOX11 chr2 58284986 58285068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VRK2 chr2 58293518 58293618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VRK2 chr2 58298031 58380165 Gain and loss Pancreatic cancer SNP array 17952125 VRK2 chr2 58309948 61194391 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BCL11A,FANCL,FLJ16341,FLJ30838,MIR4432,PAPOLG,PUS10,REL,VRK2 chr2 58311526 58311596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VRK2 chr2 58332079 58333164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VRK2 chr2 58390463 58391299 Gain and loss Pancreatic cancer SNP array 17952125 FANCL chr2 58392808 58393132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FANCL chr2 58529502 60109050 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ30838 chr2 58540931 58542671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 5854304 5854383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 58599073 58599369 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 58600062 58600774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 58606008 58606108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 58640619 58640701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 5864425 5864725 Gain Osteosarcoma References 21215367 NOT_FOUND chr2 58766299 58766351 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FLJ30838 chr2 58774652 58774735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ30838 chr2 58816341 58816441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ30838 chr2 5883131 5883231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 58916975 64077995 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-333K arrays 21546498 AHSA2,B3GNT2,BCL11A,C2orf74,CCT4,COMMD1,DBIL5P2,EHBP1,FAM161A,FLJ16341,FLJ30838,KIAA1841,LOC100132215,LOC339803,MDH1,MIR4432,MIR5192,OTX1,PAPOLG,PEX13,PUS10,REL,SNORA70B,TMEM17,UGP2,USP34,WDPCP,XPO1 chr2 58930000 60230000 Loss Breast cancer aCGH 21509527 FLJ30838 chr2 59018209 59018309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ30838 chr2 5902760 5907278 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 5905682 5905774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59113479 59113587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ30838 chr2 59130032 59130132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ30838 chr2 59131684 59131784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ30838 chr2 59165986 59170746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLJ30838 chr2 59217908 59218008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ30838 chr2 59298347 59360039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 59298347 59360039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 59322260 59322341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 59344103 59344203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59402819 59402925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 59416597 59420774 Gain Normal 244K array 17666407 NOT_FOUND chr2 59417475 59417575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59460966 59461054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 59460966 59461072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 59476761 59484552 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 59476800 59484511 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 59477152 59479126 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr2 594805 595665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 59482282 59482382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59498452 59498501 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 59505990 60622482 Duplication Normal MAD tool 21586113 MIR4432 chr2 59509030 61107537 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCL11A,FLJ16341,MIR4432,PAPOLG chr2 59514746 59514846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59519467 59548798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 59573438 59594928 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 59590469 59590780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 59684235 59684463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 59728260 59728362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 59742382 59742610 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 597566 614678 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 59775401 59775490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 59786407 59786494 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 59786407 59786507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 59797632 62474869 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 AHSA2,B3GNT2,BCL11A,C2orf74,CCT4,COMMD1,FAM161A,FLJ16341,KIAA1841,LOC339803,MIR4432,MIR5192,PAPOLG,PEX13,PUS10,REL,SNORA70B,USP34,XPO1 chr2 59801943 59806350 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 59823467 59823567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59833548 59833637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 59835473 60825661 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 BCL11A,MIR4432 chr2 59847077 59847171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59874128 59874253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59874161 59874268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59874258 59874468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 59934152 59934324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 59943007 59943107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60037423 61614928 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 AHSA2,BCL11A,C2orf74,FLJ16341,KIAA1841,LOC339803,MIR4432,PAPOLG,PEX13,PUS10,REL,USP34 chr2 60061359 60061449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60063668 60063768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60092350 60092433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60107001 60107101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60110317 60111708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 601116 1379047 LOH Normal High-resolution SNP genotyping 21211785 LOC339822,SNTG2,TMEM18 chr2 60187859 60187959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60234145 60279453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 60255944 60256044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60284281 60284381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 6029435 6030032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60298379 60831488 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BCL11A,MIR4432 chr2 60322012 60322112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60338918 60339012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60381061 60381211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60465244 60465402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60466431 61759445 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 AHSA2,BCL11A,C2orf74,FLJ16341,KIAA1841,LOC339803,MIR4432,PAPOLG,PEX13,PUS10,REL,SNORA70B,USP34,XPO1 chr2 60481433 60481533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60491005 60491099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60515739 63615739 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 AHSA2,B3GNT2,BCL11A,C2orf74,CCT4,COMMD1,DBIL5P2,EHBP1,FAM161A,FLJ16341,KIAA1841,LOC100132215,LOC339803,MIR4432,MIR5192,OTX1,PAPOLG,PEX13,PUS10,REL,SNORA70B,TMEM17,USP34,WDPCP,XPO1 chr2 60523391 60523548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60523391 60523602 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60531805 60634137 Gain or loss Breast cancer - 20668451 MIR4432 chr2 60531805 60634137 Gain or loss Cancer - 20668451 MIR4432 chr2 60531805 60634137 Gain or loss Lung cancer - 20668451 MIR4432 chr2 60531805 60634137 Gain or loss Ovarian cancer - 20668451 MIR4432 chr2 60531805 60634137 Gain or loss Pancreas cancer - 20668451 MIR4432 chr2 60531805 60634137 Gain or loss Prostate cancer - 20668451 MIR4432 chr2 60531806 60634272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4432 chr2 60531806 60634272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4432 chr2 60537832 60634137 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MIR4432 chr2 60541480 60541568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 6058437 6079717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC150622 chr2 60590945 60692284 Gain and loss Pancreatic cancer SNP array 17952125 BCL11A,MIR4432 chr2 60591731 60750244 Gain Asthma Illumina 550K SNP array 20841430 BCL11A,MIR4432 chr2 6061689 6064974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60658867 60755167 Amplification or deletion Cancer Array CGH 17440070 BCL11A chr2 60666808 60666908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60700297 60700391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL11A chr2 60721344 60721639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL11A chr2 60721353 60721641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL11A chr2 60749104 60749184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL11A chr2 60767472 60767572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL11A chr2 60773285 60773385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL11A chr2 60777896 60777996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCL11A chr2 60779500 60779788 Gain and loss Pancreatic cancer SNP array 17952125 BCL11A chr2 60779651 60797586 In Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 BCL11A chr2 60792123 60792559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60800283 60800375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60815529 60816366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60817041 60817134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60836887 60879600 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 60836887 60879600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60836887 60879600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60850270 60850713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60858430 60858522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60864430 60864530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 60873685 60874308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60874313 60874504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60895034 60937747 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60895998 62372398 LOH Normal High-resolution SNP genotyping 21211785 AHSA2,C2orf74,CCT4,COMMD1,FAM161A,FLJ16341,KIAA1841,LOC339803,PAPOLG,PEX13,PUS10,REL,SNORA70B,USP34,XPO1 chr2 60912291 60912523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60932899 60933382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 60950836 61875484 LOH Normal High-resolution SNP genotyping 21211785 AHSA2,C2orf74,FLJ16341,KIAA1841,LOC339803,PAPOLG,PEX13,PUS10,REL,SNORA70B,USP34,XPO1 chr2 60950859 60968795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 60960000 61000000 Amplification Burkitt's lymphoma 244 K aCGH platform 19759907 PAPOLG chr2 60962255 61003682 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 PAPOLG chr2 60962255 61003682 Gain or loss Breast cancer - 20668451 PAPOLG chr2 60962255 61003682 Gain or loss Cancer - 20668451 PAPOLG chr2 60962255 61003682 Gain or loss Lung cancer - 20668451 PAPOLG chr2 60962255 61003682 Gain or loss Ovarian cancer - 20668451 PAPOLG chr2 60962255 61003682 Gain or loss Pancreas cancer - 20668451 PAPOLG chr2 60962255 61003682 Gain or loss Prostate cancer - 20668451 PAPOLG chr2 60962256 61003682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAPOLG chr2 60962256 61003682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAPOLG chr2 60962256 61003682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPOLG chr2 60966923 61033726 Loss Bladder cancer array-CGH 21909424 PAPOLG chr2 60970438 60970670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 60989635 60989694 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 PAPOLG chr2 60991942 60992081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPOLG chr2 6101501 6103000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC150622 chr2 61020401 61061321 Gain and loss Pancreatic cancer SNP array 17952125 PAPOLG chr2 61021053 61098869 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FLJ16341,PAPOLG chr2 61022608 61098712 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ16341,PAPOLG chr2 61022608 61098712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ16341,PAPOLG chr2 61022608 61098712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ16341,PAPOLG chr2 61027331 61059794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PAPOLG chr2 61050089 61050228 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 61050089 61050231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 6105307 6139018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC150622,LOC400940 chr2 61079014 61157045 Gain and loss Pancreatic cancer SNP array 17952125 FLJ16341,REL chr2 61079391 61079477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ16341 chr2 61079391 61079507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ16341 chr2 61083333 61124504 Amplification or deletion Cancer Array CGH 17440070 FLJ16341,REL chr2 61084082 61084182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ16341 chr2 61097864 61129895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ16341,REL chr2 61097864 61129895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ16341,REL chr2 61098373 61129896 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 FLJ16341,REL chr2 61103180 61294012 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 FLJ16341,KIAA1841,PEX13,PUS10,REL chr2 61137538 61137624 Gain and loss Pancreatic cancer SNP array 17952125 REL chr2 61146572 61218670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PUS10,REL chr2 61146572 61218670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PUS10,REL chr2 61146866 61218673 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 PUS10,REL chr2 61153651 61153751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 61156521 61188042 Gain and loss Pancreatic cancer SNP array 17952125 PUS10 chr2 611770 611869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 61181674 62979327 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 AHSA2,B3GNT2,C2orf74,CCT4,COMMD1,EHBP1,FAM161A,KIAA1841,LOC339803,MIR5192,PEX13,PUS10,SNORA70B,TMEM17,USP34,XPO1 chr2 61209112 61273018 Gain and loss Pancreatic cancer SNP array 17952125 PEX13,PUS10 chr2 61222870 61222950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PUS10 chr2 61225770 61245166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PEX13,PUS10 chr2 61225770 61245166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEX13,PUS10 chr2 61243132 61245468 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PEX13,PUS10 chr2 61258057 61269564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PEX13 chr2 61258057 61269564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEX13 chr2 61258324 61267562 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 PEX13 chr2 61259198 61259485 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PEX13 chr2 61268093 61551353 Gain or loss Breast cancer - 20668451 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61268093 61551353 Gain or loss Cancer - 20668451 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61268093 61551353 Gain or loss Lung cancer - 20668451 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61268093 61551353 Gain or loss Ovarian cancer - 20668451 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61268093 61551353 Gain or loss Pancreas cancer - 20668451 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61268093 61551353 Gain or loss Prostate cancer - 20668451 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61268093 61551353 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61268095 61551353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61268095 61551353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHSA2,C2orf74,KIAA1841,LOC339803,PEX13,USP34 chr2 61280564 61283736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 61300000 64100000 Amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 AHSA2,B3GNT2,C2orf74,CCT4,COMMD1,DBIL5P2,EHBP1,FAM161A,KIAA1841,LOC100132215,LOC339803,MDH1,MIR5192,OTX1,SNORA70B,TMEM17,UGP2,USP34,WDPCP,XPO1 chr2 61300000 64100000 Gain or amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 AHSA2,B3GNT2,C2orf74,CCT4,COMMD1,DBIL5P2,EHBP1,FAM161A,KIAA1841,LOC100132215,LOC339803,MDH1,MIR5192,OTX1,SNORA70B,TMEM17,UGP2,USP34,WDPCP,XPO1 chr2 61300000 68600000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ACTR2,AFTPH,AHSA2,B3GNT2,C1D,C2orf74,CCT4,CEP68,CNRIP1,COMMD1,DBIL5P2,EHBP1,ETAA1,FAM161A,KIAA1841,LGALSL,LINC00309,LOC100132215,LOC339803,LOC339807,LOC400958,LOC644838,MDH1,MEIS1,MEIS1-AS3,MIR4434,MIR4778,MIR5192,OTX1,PELI1,PLEK,PNO1,PPP3R1,RAB1A,SERTAD2,SLC1A4,SNORA70B,SPRED2,TMEM17,UGP2,USP34,VPS54,WDPCP,WDR92,XPO1 chr2 61301301 61303313 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1841 chr2 61316204 61325703 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1841 chr2 613259 840191 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC339822,TMEM18 chr2 61326337 61544642 Gain and loss Pancreatic cancer SNP array 17952125 AHSA2,C2orf74,KIAA1841,LOC339803,USP34 chr2 61364579 61364673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1841 chr2 61400000 148400000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AAK1,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ADD2,ADRA2B,AFF3,AFTPH,AHSA2,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP15,ARHGAP25,ARHGEF4,ARID5A,ASPRV1,ASTL,ATOH8,ATP6V1B1,AUP1,B3GNT2,BCL2L11,BIN1,BMP10,BOLA3,BOLA3-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf49,C2orf65,C2orf68,C2orf76,C2orf78,C2orf81,CAPG,CBWD2,CCDC115,CCDC138,CCDC142,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CCT4,CCT7,CD207,CD8A,CD8B,CEP68,CFC1,CFC1B,CHCHD5,CHMP3,CHST10,CIAO1,CKAP2L,CLASP1,CLEC4F,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COMMD1,COX5B,CREG2,CTNNA2,CXCR4,CYP26B1,CYP27C1,CYP4F30P,DARS,DBI,DBIL5P2,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DGUOK,DKFZp686O1327,DNAH6,DOK1,DPP10,DQX1,DUSP11,DUSP2,DYSF,EDAR,EGR4,EHBP1,EIF2AK3,EIF5B,ELMOD3,EMX1,EN1,EPB41L5,ERCC3,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM136A,FAM138B,FAM161A,FAM168B,FAM176A,FAM178B,FBLN7,FBXO41,FBXO48,FER1L5,FHL2,FIGLA,FLJ42351,FOXD4L1,FOXI3,FUNDC2P2,GCC2,GCFC2,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GPAT2,GPR148,GPR17,GPR39,GPR45,GTDC1,GYPC,HK2,HNMT,HS6ST1,HTRA2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCMF1,KCNIP3,KDM3A,KIAA1211L,KRCC1,KYNU,LBX2,LBX2-AS1,LCT,LGALSL,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00309,LIPT1,LMAN2L,LOC100129961,LOC100131320,LOC100132215,LOC100133985,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC100507600,LOC100630918,LOC150568,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC339807,LOC389023,LOC389033,LOC389043,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC644838,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRRTM1,LRRTM4,LYG1,LYG2,LYPD1,MAL,MALL,MAP3K2,MAP4K4,MARCO,MAT2A,MCEE,MCM6,MDH1,MEIS1,MEIS1-AS3,MERTK,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR3126,MIR3127,MIR3679,MIR4264,MIR4265,MIR4266,MIR4267,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4772,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR5000,MIR5192,MIR5696,MIR663B,MITD1,MKI67IP,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL30,MRPL35,MRPL53,MRPS5,MRPS9,MTHFD2,MXD1,MYO7B,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NCAPH,NCK2,NCKAP5,NEURL3,NFU1,NMS,NOTO,NPAS2,NPHP1,NXPH2,OR7E91P,OTX1,PABPC1P2,PAIP2B,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PELI1,PLEK,PLEKHB2,PLGLA,PLGLB1,PLGLB2,PNO1,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PPP3R1,PRADC1,PROC,PROKR1,PROM2,PSD4,PTCD3,PTPN18,PTPN4,R3HDM1,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RMND5A,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RNU6-81,RPIA,RPL23AP7,RPL31,RTKN,SAP130,SCTR,SEMA4C,SEMA4F,SEPT10,SERTAD2,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SLC1A4,SLC20A1,SLC35F5,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SPOPL,SPR,SPRED2,ST3GAL5,ST6GAL2,STAMBP,STARD7,STEAP3,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TACR1,TBC1D8,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THNSL2,THSD7B,TIA1,TISP43,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TMSB10,TPRKB,TRABD2A,TRIM43,TRIM43B,TSGA10,TSN,TTC31,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN4,UGGT1,UGP2,UNC50,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VPS54,VWA3B,WASH2P,WBP1,WDPCP,WDR33,WDR54,WDR92,WTH3DI,XPO1,YSK4,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZNF2,ZNF514,ZNF638,ZRANB3 chr2 6142044 6142144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 61497527 61497836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP34 chr2 61497527 61497836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP34 chr2 61497883 61498017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP34 chr2 61556030 61556164 Gain and loss Pancreatic cancer SNP array 17952125 USP34 chr2 61558488 61618922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP34 chr2 61558488 61618922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP34 chr2 61558572 61618922 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 USP34 chr2 61616722 61677052 Gain and loss Pancreatic cancer SNP array 17952125 SNORA70B,USP34 chr2 61686255 61686361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP34 chr2 61694198 62277838 LOH Normal High-resolution SNP genotyping 21211785 CCT4,COMMD1,FAM161A,USP34,XPO1 chr2 61731635 62306157 LOH Normal High-resolution SNP genotyping 21211785 CCT4,COMMD1,FAM161A,XPO1 chr2 61733678 61734610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XPO1 chr2 61735108 62250342 LOH Normal High-resolution SNP genotyping 21211785 CCT4,COMMD1,FAM161A,XPO1 chr2 61744402 61744508 Gain and loss Pancreatic cancer SNP array 17952125 XPO1 chr2 61770375 61814860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 61790710 61791617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 618144 623086 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 61845078 61845178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 61848856 61849764 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 61905486 61934782 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 61905495 61934782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 61905495 61934782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 619159 623086 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 61943048 64221481 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-326K arrays 21546498 B3GNT2,CCT4,COMMD1,DBIL5P2,EHBP1,FAM161A,LOC100132215,MDH1,MIR5192,OTX1,TMEM17,UGP2,VPS54,WDPCP chr2 619463 623086 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 61948765 61969295 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 61948769 61969300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 61948769 61969300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 61963641 61992839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 6197627 66870455 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABCG5,ABCG8,ABHD1,ACTR2,ACYP2,ADAM17,ADCY3,AFTPH,AGBL5,AHSA2,ALK,APOB,ARHGEF33,ASAP2,ASB3,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,B3GNT2,BCL11A,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf73,C2orf74,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC104,CCDC121,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CIB4,CLHC1,CLIP4,CMPK2,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DBIL5P2,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFEMP1,EFR3B,EHBP1,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EML6,EPAS1,EPCAM,EPT1,ERLEC1,FAM161A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LGALSL,LHCGR,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506274,LOC100506474,LOC339788,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC645949,LOC728730,LOC728819,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3682,MIR4261,MIR4262,MIR4263,MIR4426,MIR4429,MIR4432,MIR4434,MIR4757,MIR4765,MIR4778,MIR5192,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MTIF2,MYADML,MYCN,MYCNOS,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OTX1,OXER1,PAPOLG,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,PNPT1,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PQLC3,PREB,PREPL,PRKCE,PRKD3,PRORSD1P,PSME4,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REL,RHOB,RHOQ,RNF144A,RNF144A-AS1,ROCK2,RPL23AP32,RPS27A,RRM2,RSAD2,RTN4,SDC1,SERTAD2,SF3B14,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SNORA70B,SNORA80B,SNORD53,SNORD92,SNX17,SOCS5,SOS1,SPAST,SPDYA,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM17,TMEM178A,TMEM214,TMEM247,TP53I3,TRIB2,TRIM54,TRMT61B,TSPYL6,TTC27,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,VIT,VPS54,VRK2,VSNL1,WDPCP,WDR35,WDR43,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 61986292 62216698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCT4,COMMD1,FAM161A chr2 61986292 62216698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCT4,COMMD1,FAM161A chr2 61986306 62216709 Deletion Copper toxicosis References 22138850 CCT4,COMMD1,FAM161A chr2 62006916 62027442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 62009262 62009331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62009461 62144240 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CCT4,COMMD1,FAM161A chr2 62044444 62274844 Gain and loss Pancreatic cancer SNP array 17952125 CCT4,COMMD1,FAM161A chr2 62066748 62066848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM161A chr2 62067409 62067478 Gain and loss Pancreatic cancer SNP array 17952125 FAM161A chr2 62081310 62298660 Loss Bladder cancer array-CGH 21909424 CCT4,COMMD1 chr2 6215745 6226169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 62203864 62204657 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COMMD1 chr2 62227052 62227792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMMD1 chr2 62276765 62305370 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 COMMD1 chr2 62276766 62305368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COMMD1 chr2 62276766 62305368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMMD1 chr2 62310580 62310910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COMMD1 chr2 62310604 62310930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COMMD1 chr2 62334913 62363517 Gain and loss Pancreatic cancer SNP array 17952125 COMMD1 chr2 62336725 62337184 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COMMD1 chr2 62343029 62343310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMMD1 chr2 62343036 62343307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMMD1 chr2 62345634 62345736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COMMD1 chr2 62355412 62361107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COMMD1 chr2 62401183 62401454 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 62403781 62403883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 62412167 62412317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 6241246 6287970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 62413989 62495209 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 B3GNT2,MIR5192 chr2 6241939 6242017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 62501684 62501906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 62501974 62502104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 6252418 6822373 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 62524359 62524643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 62561200 63922553 LOH Normal High-resolution SNP genotyping 21211785 DBIL5P2,EHBP1,LOC100132215,MDH1,OTX1,TMEM17,WDPCP chr2 62571817 62572105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62580859 62587108 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 62581274 62586980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62581274 62586980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62587996 62588096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 62588184 62588462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62602915 62648782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 62613222 62613698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62629964 62630254 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 62633102 62634073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62638600 63737774 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-345K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,OTX1,TMEM17,WDPCP chr2 62638600 64410968 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-343K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,MDH1,OTX1,PELI1,TMEM17,UGP2,VPS54,WDPCP chr2 62639421 62645127 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 62641697 62642062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62658983 64451795 LOH Normal High-resolution SNP genotyping 21211785 DBIL5P2,EHBP1,LINC00309,LOC100132215,MDH1,OTX1,PELI1,TMEM17,UGP2,VPS54,WDPCP chr2 62669536 63963865 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-335K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,MDH1,OTX1,TMEM17,WDPCP chr2 62741268 63737774 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-306K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,OTX1,WDPCP chr2 62752231 62752275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 62754490 63127123 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHBP1 chr2 62754490 63127123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHBP1 chr2 62755733 62755833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 62787535 63127123 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EHBP1 chr2 62798253 63724287 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-348K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,OTX1,WDPCP chr2 62798253 64221481 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-319K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,MDH1,OTX1,UGP2,VPS54,WDPCP chr2 62804527 63724287 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-346K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,OTX1,WDPCP chr2 62822988 62823020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 62827257 62827349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 62844772 63185270 Gain and loss Pancreatic cancer SNP array 17952125 EHBP1 chr2 62865424 62865530 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 62865425 62865522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 62869883 64744629 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 DBIL5P2,EHBP1,LGALSL,LINC00309,LOC100132215,MDH1,OTX1,PELI1,UGP2,VPS54,WDPCP chr2 62869883 64744629 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-305K arrays 21546498 DBIL5P2,EHBP1,LGALSL,LINC00309,LOC100132215,MDH1,OTX1,PELI1,UGP2,VPS54,WDPCP chr2 62930984 63737774 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-316K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,OTX1,WDPCP chr2 62930984 63737774 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-324K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,OTX1,WDPCP chr2 62930984 63847164 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-331K arrays 21546498 DBIL5P2,EHBP1,LOC100132215,MDH1,OTX1,WDPCP chr2 62947530 64276721 LOH Normal High-resolution SNP genotyping 21211785 DBIL5P2,EHBP1,LOC100132215,MDH1,OTX1,UGP2,VPS54,WDPCP chr2 62948171 62948271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHBP1 chr2 62979327 63933421 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 DBIL5P2,EHBP1,LOC100132215,MDH1,OTX1,WDPCP chr2 62994968 62995032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHBP1 chr2 62996946 62997046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHBP1 chr2 62996949 62997049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHBP1 chr2 63013487 63013587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHBP1 chr2 63047504 63047604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHBP1 chr2 63128001 63140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EHBP1 chr2 63130696 63138475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHBP1 chr2 63130696 63138475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHBP1 chr2 63131468 63137816 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EHBP1 chr2 63140132 63140232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EHBP1 chr2 6315901 6321600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 6317542 6319438 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 6317960 6319644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 63189616 63195954 Gain and loss Pancreatic cancer SNP array 17952125 EHBP1 chr2 63202041 63669355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DBIL5P2,EHBP1,LOC100132215,OTX1,WDPCP chr2 63202041 63669355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DBIL5P2,EHBP1,LOC100132215,OTX1,WDPCP chr2 63249271 63249488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHBP1 chr2 63257848 63258048 Gain and loss Pancreatic cancer SNP array 17952125 EHBP1 chr2 63260188 63727303 Gain and loss Pancreatic cancer SNP array 17952125 DBIL5P2,EHBP1,LOC100132215,OTX1,WDPCP chr2 63289431 63290148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 63307418 63307635 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 63307618 64807513 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AFTPH,DBIL5P2,LGALSL,LINC00309,MDH1,MIR4434,PELI1,UGP2,VPS54,WDPCP chr2 63328733 63328833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 63347578 63348295 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 63411197 63411297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDPCP chr2 63517959 63520094 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 WDPCP chr2 63579475 65084243 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AFTPH,LGALSL,LINC00309,LOC339807,MDH1,MIR4434,PELI1,SERTAD2,UGP2,VPS54,WDPCP chr2 635891 651476 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 63599532 63600138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDPCP chr2 63669596 63687832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDPCP chr2 63669596 63687832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDPCP chr2 63675559 63708735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDPCP chr2 63702822 63703469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDPCP chr2 63702822 63703469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDPCP chr2 63724057 63724630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDPCP chr2 63727773 63745979 Gain and loss Pancreatic cancer SNP array 17952125 WDPCP chr2 63760960 63761616 Gain and loss Pancreatic cancer SNP array 17952125 WDPCP chr2 63776031 63776173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDPCP chr2 63782051 63782798 Gain and loss Pancreatic cancer SNP array 17952125 WDPCP chr2 63890831 63891395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 63901163 63901263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 63921602 63972196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 63921602 63972196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 6393267 11974352 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-367K arrays 21546498 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100506274,LOC339788,LPIN1,MBOAT2,MIR4261,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SNORA80B,TAF1B,YWHAQ chr2 63941819 63943494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 63973171 64099718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UGP2 chr2 63973171 64099718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UGP2 chr2 63979749 64030343 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 63979934 63980644 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 64000000 70500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AAK1,ACTR2,AFTPH,ANTXR1,ANXA4,APLF,ARHGAP25,ASPRV1,BMP10,C1D,C2orf42,CEP68,CNRIP1,ETAA1,FBXO48,GFPT1,GKN1,GKN2,GMCL1,LGALSL,LINC00309,LOC100133985,LOC339807,LOC400958,LOC644838,MEIS1,MEIS1-AS3,MIR3126,MIR4434,MIR4778,MXD1,NFU1,PCBP1,PCBP1-AS1,PCYOX1,PELI1,PLEK,PNO1,PPP3R1,PROKR1,RAB1A,SERTAD2,SLC1A4,SNORA36C,SNRNP27,SPRED2,TIA1,UGP2,VPS54,WDR92 chr2 64000000 70500000 Loss Cancer array-based techniques 21183584 AAK1,ACTR2,AFTPH,ANTXR1,ANXA4,APLF,ARHGAP25,ASPRV1,BMP10,C1D,C2orf42,CEP68,CNRIP1,ETAA1,FBXO48,GFPT1,GKN1,GKN2,GMCL1,LGALSL,LINC00309,LOC100133985,LOC339807,LOC400958,LOC644838,MEIS1,MEIS1-AS3,MIR3126,MIR4434,MIR4778,MXD1,NFU1,PCBP1,PCBP1-AS1,PCYOX1,PELI1,PLEK,PNO1,PPP3R1,PROKR1,RAB1A,SERTAD2,SLC1A4,SNORA36C,SNRNP27,SPRED2,TIA1,UGP2,VPS54,WDR92 chr2 64000000 75400000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 AAK1,ACTG2,ACTR2,ADD2,AFTPH,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ASPRV1,ATP6V1B1,AUP1,BMP10,BOLA3,BOLA3-AS1,C1D,C2orf42,C2orf65,C2orf78,C2orf81,CCDC142,CCT7,CD207,CEP68,CLEC4F,CNRIP1,CYP26B1,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,DUSP11,DYSF,EGR4,EMX1,ETAA1,EXOC6B,FAM136A,FBXO41,FBXO48,FIGLA,GFPT1,GKN1,GKN2,GMCL1,HK2,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LGALSL,LINC00309,LOC100133985,LOC339807,LOC400958,LOC644838,LOXL3,MCEE,MEIS1,MEIS1-AS3,MIR3126,MIR4434,MIR4778,MIR5000,MOB1A,MOGS,MPHOSPH10,MRPL53,MTHFD2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,OR7E91P,PAIP2B,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PELI1,PLEK,PNO1,POLE4,PPP3R1,PRADC1,PROKR1,RAB11FIP5,RAB1A,RTKN,SEMA4F,SERTAD2,SFXN5,SLC1A4,SLC4A5,SMYD5,SNORA36C,SNRNP27,SNRPG,SPR,SPRED2,STAMBP,TACR1,TET3,TEX261,TGFA,TIA1,TLX2,TPRKB,TTC31,UGP2,VAX2,VPS54,WBP1,WDR54,WDR92,ZNF638 chr2 64000000 83700000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 AAK1,ACTG2,ACTR2,ADD2,AFTPH,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ASPRV1,ATP6V1B1,AUP1,BMP10,BOLA3,BOLA3-AS1,C1D,C2orf42,C2orf65,C2orf78,C2orf81,CCDC142,CCT7,CD207,CEP68,CLEC4F,CNRIP1,CTNNA2,CYP26B1,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,DUSP11,DYSF,EGR4,EMX1,ETAA1,EXOC6B,FAM136A,FAM176A,FBXO41,FBXO48,FIGLA,GCFC2,GFPT1,GKN1,GKN2,GMCL1,HK2,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LGALSL,LINC00309,LOC100133985,LOC1720,LOC339807,LOC400958,LOC644838,LOXL3,LRRTM1,LRRTM4,MCEE,MEIS1,MEIS1-AS3,MIR3126,MIR4264,MIR4434,MIR4778,MIR5000,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL53,MTHFD2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,OR7E91P,PAIP2B,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PELI1,PLEK,PNO1,POLE4,PPP3R1,PRADC1,PROKR1,RAB11FIP5,RAB1A,REG1A,REG1B,REG1P,REG3A,REG3G,RTKN,SEMA4F,SERTAD2,SFXN5,SLC1A4,SLC4A5,SMYD5,SNAR-H,SNORA36C,SNRNP27,SNRPG,SPR,SPRED2,STAMBP,TACR1,TET3,TEX261,TGFA,TIA1,TLX2,TPRKB,TTC31,UGP2,VAX2,VPS54,WBP1,WDR54,WDR92,ZNF638 chr2 64009993 69181808 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ACTR2,AFTPH,APLF,ARHGAP25,BMP10,C1D,CEP68,CNRIP1,ETAA1,FBXO48,GKN2,LGALSL,LINC00309,LOC339807,LOC400958,LOC644838,MEIS1,MEIS1-AS3,MIR4434,MIR4778,PELI1,PLEK,PNO1,PPP3R1,PROKR1,RAB1A,SERTAD2,SLC1A4,SPRED2,UGP2,VPS54,WDR92 chr2 64009993 69181808 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-336K arrays 21546498 ACTR2,AFTPH,APLF,ARHGAP25,BMP10,C1D,CEP68,CNRIP1,ETAA1,FBXO48,GKN2,LGALSL,LINC00309,LOC339807,LOC400958,LOC644838,MEIS1,MEIS1-AS3,MIR4434,MIR4778,PELI1,PLEK,PNO1,PPP3R1,PROKR1,RAB1A,SERTAD2,SLC1A4,SPRED2,UGP2,VPS54,WDR92 chr2 64031848 64157857 Gain and loss Pancreatic cancer SNP array 17952125 UGP2,VPS54 chr2 64100000 68600000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACTR2,AFTPH,C1D,CEP68,CNRIP1,ETAA1,LGALSL,LINC00309,LOC339807,LOC400958,LOC644838,MEIS1,MEIS1-AS3,MIR4434,MIR4778,PELI1,PLEK,PNO1,PPP3R1,RAB1A,SERTAD2,SLC1A4,SPRED2,UGP2,VPS54,WDR92 chr2 64112111 64112155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UGP2 chr2 64164656 64451207 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00309,PELI1,VPS54 chr2 64173289 64225109 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 VPS54 chr2 64173499 64225037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS54 chr2 64173499 64225037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS54 chr2 64183539 64192951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS54 chr2 64231652 64283209 Gain and loss Pancreatic cancer SNP array 17952125 VPS54 chr2 64323866 64344270 Gain and loss Pancreatic cancer SNP array 17952125 PELI1 chr2 64331358 64331458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PELI1 chr2 64333000 65547000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ACTR2,AFTPH,CEP68,LGALSL,LINC00309,LOC339807,LOC400958,MIR4434,PELI1,RAB1A,SERTAD2,SLC1A4,SPRED2 chr2 64333000 65547000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 ACTR2,AFTPH,CEP68,LGALSL,LINC00309,LOC339807,LOC400958,MIR4434,PELI1,RAB1A,SERTAD2,SLC1A4,SPRED2 chr2 64486051 64486524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 64492793 64492893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 64534830 64542021 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 64535159 64542019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64535159 64542019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64579605 64579705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 64593306 64600160 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 64604969 64673635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64604969 64673635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64630920 64631009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 64652369 64659925 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 64659531 64659614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64660695 64690108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LGALSL chr2 64663116 64836546 Gain and loss Pancreatic cancer SNP array 17952125 AFTPH,LGALSL,LOC339807,MIR4434 chr2 64686947 64687047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LGALSL chr2 64706346 64711795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 64712260 64734550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64712260 64734550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64713206 64713637 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 64717678 64717761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 64727414 64772316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AFTPH,MIR4434 chr2 64770407 64792697 Gain and loss Pancreatic cancer SNP array 17952125 AFTPH chr2 64772796 64772893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AFTPH chr2 6477458 6477784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 64832198 64832298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 64852859 64852922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 64853205 65010694 Deletion Breast cancer Illumina 1M duo array 20393555 SERTAD2 chr2 64857563 64857663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 64871437 64871537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERTAD2 chr2 64875598 64875698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERTAD2 chr2 64876943 64877003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERTAD2 chr2 64877350 64905615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SERTAD2 chr2 64898016 64898307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64898016 64898312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64914694 64914795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64956163 64956454 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 64957382 64957478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 64972842 64972942 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 64972843 64972942 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 64987501 64987776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64989227 64989324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 64993237 64993995 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 65045648 65045923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 65047374 65047471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 65058870 65074688 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 65066608 65085811 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 65070098 65104501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 65070098 65104501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 65075384 65075498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 65102395 65102495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 65128245 65162648 Gain and loss Pancreatic cancer SNP array 17952125 LOC400958 chr2 65133531 65133645 Gain and loss Pancreatic cancer SNP array 17952125 LOC400958 chr2 65136999 65167618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC400958 chr2 65136999 65167618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC400958 chr2 65167493 65210744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 65167493 65210744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 65168206 65171697 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 65177661 65177711 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 65187307 65195199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 65195146 65225788 Gain and loss Pancreatic cancer SNP array 17952125 SLC1A4 chr2 65219998 65220098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC1A4 chr2 65225640 65268886 Gain and loss Pancreatic cancer SNP array 17952125 SLC1A4 chr2 65239300 65239498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC1A4 chr2 65285641 65286900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP68 chr2 65285641 65286900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP68 chr2 65286361 65307702 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CEP68 chr2 65297446 65297645 Gain and loss Pancreatic cancer SNP array 17952125 CEP68 chr2 65297447 65297645 Gain and loss Pancreatic cancer SNP array 17952125 CEP68 chr2 65308406 65351889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP68,RAB1A chr2 65308406 65351889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP68,RAB1A chr2 65337053 66251051 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR2,RAB1A,SPRED2 chr2 65337053 66549336 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTR2,RAB1A,SPRED2 chr2 65343927 65344890 Gain and loss Pancreatic cancer SNP array 17952125 RAB1A chr2 65366622 65408941 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 65391488 65513160 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ACTR2 chr2 65391488 65513160 Copy number Lung cancer - 20668451 ACTR2 chr2 65391488 65513160 Gain or loss Breast cancer - 20668451 ACTR2 chr2 65391488 65513160 Gain or loss Cancer - 20668451 ACTR2 chr2 65391488 65513160 Gain or loss Lung cancer - 20668451 ACTR2 chr2 65391488 65513160 Gain or loss Ovarian cancer - 20668451 ACTR2 chr2 65391488 65513160 Gain or loss Pancreas cancer - 20668451 ACTR2 chr2 65391488 65513160 Gain or loss Prostate cancer - 20668451 ACTR2 chr2 65391492 65512815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTR2 chr2 65391492 65512815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR2 chr2 65449639 65492780 Gain and loss Pancreatic cancer SNP array 17952125 ACTR2 chr2 65515322 65548381 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPRED2 chr2 65517368 65563784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED2 chr2 65529551 65529909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 6553460 6554381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 6554776 6599892 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 6559552 6586631 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 65626040 65626331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED2 chr2 65626041 65626338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPRED2 chr2 65631982 65632062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPRED2 chr2 65639498 65640706 Gain and loss Pancreatic cancer SNP array 17952125 SPRED2 chr2 65644397 65644497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPRED2 chr2 65649600 65649673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPRED2 chr2 65658127 65658213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPRED2 chr2 65661012 65661321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 65684187 65684478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 65747107 65748377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 65759154 65759254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 6577958 6578020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 657975 667439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 657975 667439 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 657975 667439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 65805335 65806518 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 65835731 65835831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 65862089 65863240 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 65880589 65880657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 65881662 65881752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 65903037 65935293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 65937184 65937274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 65948759 65948859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 6600000 113800000 Inversion Autism three-colour fluorescence in situ hybridisation 17483303 AAK1,ABCG5,ABCG8,ABHD1,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,ADRA2B,AFF3,AFTPH,AGBL5,AHSA2,ALK,ALMS1,ALMS1P,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ARID5A,ASAP2,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BCL2L11,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,BUB1,C1D,C2orf15,C2orf16,C2orf18,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf48,C2orf49,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC138,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHCHD5,CHMP3,CHST10,CIAO1,CIB4,CKAP2L,CLEC4F,CLHC1,CLIP4,CMPK2,CNGA3,CNNM3,CNNM4,CNRIP1,COA5,COMMD1,COX5B,COX7A2L,CPSF3,CREG2,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP2,DYNC2LI1,DYSF,E2F6,EDAR,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM136A,FAM161A,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCC2,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPAT2,GPN1,GPR113,GPR45,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1R1,IL1R2,IL1RL1,IL1RL2,IL36A,IL36B,IL36G,IL37,IMMT,INO80B,INO80B-WBP1,INPP4A,ITGB1BP1,ITPRIPL1,ITSN2,KANSL3,KCMF1,KCNF1,KCNG3,KCNIP3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1211L,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LIPT1,LMAN2L,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506123,LOC100506274,LOC100506421,LOC100506474,LOC100507334,LOC100630918,LOC150568,LOC151009,LOC1720,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC339788,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC440894,LOC440895,LOC442028,LOC541471,LOC644838,LOC645949,LOC654342,LOC728537,LOC728730,LOC728819,LOC729121,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,LYG1,LYG2,MAL,MALL,MAP4K3,MAP4K4,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,MFSD2B,MFSD9,MGAT4A,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3127,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4757,MIR4765,MIR4772,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MIR5696,MITD1,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCAPH,NCK2,NCOA1,NEURL3,NFU1,NLRC4,NMS,NOL10,NOTO,NPAS2,NPHP1,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDCL3,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POMC,POU3F3,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PROM2,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RANBP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RMND5A,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,ROCK2,RPIA,RPL23AP32,RPL31,RPS27A,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4C,SEMA4F,SEPT10,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC1A4,SLC20A1,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SOWAHC,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,ST6GAL2,STAMBP,STARD7,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUPT7L,TACR1,TAF1B,TBC1D8,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM17,TMEM178A,TMEM182,TMEM214,TMEM247,TMEM87B,TMSB10,TP53I3,TPRKB,TRABD2A,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSPYL6,TTC27,TTC31,TTC32,TTC7A,TTL,TXNDC9,UBXN2A,UCN,UGP2,UNC50,UNQ6975,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZAP70,ZC3H6,ZC3H8,ZFP36L2,ZNF2,ZNF512,ZNF513,ZNF514,ZNF638 chr2 6600000 93300000 Loss Follicular lymphoma aCGH 20505157 AAK1,ABCG5,ABCG8,ABHD1,ACTG2,ACTR2,ACTR3BP2,ACYP2,ADAM17,ADCY3,ADD2,AFTPH,AGBL5,AHSA2,ALK,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CMPK2,CNRIP1,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM136A,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506274,LOC100506474,LOC100630918,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC644838,LOC645949,LOC654342,LOC728730,LOC728819,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RRM2,RSAD2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM214,TMEM247,TMSB10,TP53I3,TPRKB,TRABD2A,TRIB2,TRIM54,TRMT61B,TSPYL6,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 66011119 66013903 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 66034 33532429 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,C2orf71,CAD,CAPN13,CAPN14,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,E2F6,EFR3B,EHD3,EIF2B4,EMILIN1,EPT1,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALNT14,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00487,LINC00570,LOC100271832,LOC100505624,LOC100505716,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,LTBP1,MAPRE3,MATN3,MBOAT2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR558,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,PXDN,RAB10,RAD51AP2,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC30A6,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPAST,SPDYA,SRD5A2,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC27,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZNF512,ZNF513 chr2 66039437 66050573 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 66039469 66050567 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 66039470 66050563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 66053589 66053688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66053618 66053718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66070035 66070103 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 6607764 6641481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 6608798 10952850 Gain Prostate cancer Array CGH 18632612 ADAM17,ASAP2,ATP6V1C2,C2orf48,CMPK2,CPSF3,CYS1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KIDINS220,KLF11,LINC00299,LINC00487,LOC100506274,LOC339788,MBOAT2,MIR4261,NOL10,ODC1,PDIA6,RNF144A,RNF144A-AS1,RRM2,RSAD2,SNORA80B,TAF1B,YWHAQ chr2 66088576 66120310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 66121888 66122028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 66122954 66143730 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr2 66124591 66124691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 661354 661830 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 66147166 66180966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 66150328 66151158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 66181890 66181954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66217114 66217214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66240707 66411516 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 66320136 66320290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 6633924 6634012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66357101 66363000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 66359069 66361948 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr2 66359069 66361948 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 66359094 66361057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 66359130 66361117 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 66362625 66363068 Gain Normal 244K array 17666407 NOT_FOUND chr2 66363056 66363122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 6643722 6696649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 66454940 67700231 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ETAA1,LOC644838,MEIS1,MEIS1-AS3,MIR4778 chr2 66462150 66462225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66483892 66483992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66516036 66653394 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MEIS1-AS3,MIR4778 chr2 66516036 66653395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MEIS1-AS3,MIR4778 chr2 66516036 66653395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MEIS1-AS3,MIR4778 chr2 66518312 66653361 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MEIS1-AS3,MIR4778 chr2 66546012 66578131 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 66574183 66711541 Gain and loss Pancreatic cancer SNP array 17952125 MEIS1,MEIS1-AS3,MIR4778 chr2 6665297 6665447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66658823 66658990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEIS1-AS3 chr2 66696913 66697013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEIS1 chr2 66703584 66703671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEIS1 chr2 66746491 67819501 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ETAA1,LOC644838,MEIS1 chr2 66774656 66774755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MEIS1 chr2 66952474 66952543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66958983 66960011 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 66974724 66974824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 66996144 67029014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 67017532 67017632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67028901 67028933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67043217 67043296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67076613 67076675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67178071 67182672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 67198930 67377313 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC644838 chr2 67220913 67221013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67276453 67276553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67304470 67304544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 673252 188179827 Duplication Intellectual disability Array CGH 22102821 AAK1,ABCB11,ABCG5,ABCG8,ABHD1,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR2,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ACYP2,ADAM17,ADCY3,ADD2,ADI1,ADRA2B,AFF3,AFTPH,AGBL5,AGPS,AHSA2,ALK,ALLC,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP15,ARHGAP25,ARHGEF33,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASAP2,ASB3,ASPRV1,ASTL,ASXL2,ATAD2B,ATF2,ATL2,ATOH8,ATP5G3,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GALT1,B3GNT2,BAZ2B,BBS5,BCL11A,BCL2L11,BIN1,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,BUB1,C1D,C1QL2,C2orf15,C2orf16,C2orf18,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf43,C2orf44,C2orf48,C2orf49,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf76,C2orf78,C2orf81,C2orf91,CACNB4,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CBWD2,CCDC104,CCDC115,CCDC121,CCDC138,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC164,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC75,CCDC85A,CCDC88A,CCDC93,CCNT2,CCT4,CCT7,CD207,CD302,CD8A,CD8B,CDC42EP3,CDCA7,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CERKL,CERS6,CFC1,CFC1B,CGREF1,CHAC2,CHCHD5,CHMP3,CHN1,CHRNA1,CHST10,CIAO1,CIB4,CIR1,CKAP2L,CLASP1,CLEC4F,CLHC1,CLIP4,CMPK2,CNGA3,CNNM3,CNNM4,CNRIP1,CNTNAP5,COA5,COBLL1,COLEC11,COMMD1,COX5B,COX7A2L,CPSF3,CREG2,CRIM1,CRIPT,CSRNP3,CTNNA2,CWC22,CXCR4,CYBRD1,CYP1B1,CYP1B1-AS1,CYP26B1,CYP27C1,CYP4F30P,CYS1,CYTIP,DAPL1,DARS,DBI,DBIL5P2,DCAF17,DCTN1,DCTN1-AS1,DDX1,DDX11L2,DDX18,DFNB59,DGUOK,DHRS9,DHX57,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAJC10,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPP10,DPP4,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DUSP19,DUSP2,DYNC1I2,DYNC2LI1,DYSF,E2F6,EDAR,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,EIF5B,ELMOD3,EMILIN1,EML4,EML6,EMX1,EN1,EPAS1,EPB41L5,EPC2,EPCAM,EPT1,ERCC3,ERLEC1,ERMN,ETAA1,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM136A,FAM138B,FAM161A,FAM168B,FAM171B,FAM176A,FAM178B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FAP,FASTKD1,FBLN7,FBXO11,FBXO41,FBXO48,FER1L5,FEZ2,FHL2,FIGLA,FIGN,FKBP1B,FKBP7,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FLJ42351,FMNL2,FNDC4,FOSL2,FOXD4L1,FOXI3,FOXN2,FRZB,FSHR,FSIP2,FTH1P3,FUNDC2P2,G6PC2,GAD1,GALM,GALNT13,GALNT14,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GGT8P,GKN1,GKN2,GLI2,GMCL1,GNLY,GORASP2,GPAT2,GPD2,GPN1,GPR113,GPR148,GPR155,GPR17,GPR39,GPR45,GPR75,GPR75-ASB3,GRB14,GREB1,GRHL1,GTDC1,GTF2A1L,GTF3C2,GYPC,HAAO,HADHA,HADHB,HAT1,HEATR5B,HK2,HNMT,HNRNPA3,HNRPLL,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HPCAL1,HS1BP3,HS6ST1,HTRA2,IAH1,ID2,IFIH1,IFT172,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITGA4,ITGA6,ITGAV,ITGB1BP1,ITGB6,ITPRIPL1,ITSN2,IWS1,KANSL3,KBTBD10,KCMF1,KCNF1,KCNG3,KCNH7,KCNIP3,KCNJ3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1211L,KIAA1715,KIAA1841,KIDINS220,KIF3C,KIF5C,KLF11,KLHL23,KLHL29,KRCC1,KRTCAP3,KYNU,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LCT,LGALSL,LHCGR,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00299,LINC00309,LINC00486,LINC00487,LINC00570,LIPT1,LMAN2L,LOC100129726,LOC100129961,LOC100130691,LOC100131320,LOC100132215,LOC100133985,LOC100134259,LOC100144595,LOC100216479,LOC100271832,LOC100287010,LOC100288570,LOC100288911,LOC100499194,LOC100505624,LOC100505695,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506123,LOC100506124,LOC100506134,LOC100506274,LOC100506421,LOC100506474,LOC100507334,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150622,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC339788,LOC339803,LOC339807,LOC339822,LOC375196,LOC375295,LOC388942,LOC388948,LOC389023,LOC389033,LOC389043,LOC400940,LOC400958,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC644838,LOC645949,LOC646743,LOC647012,LOC654342,LOC654433,LOC727982,LOC728537,LOC728730,LOC728819,LOC729121,LOC730811,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LPIN1,LRP1B,LRP2,LRPPRC,LRRTM1,LRRTM4,LTBP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K3,MAP4K4,MAPRE3,MARCH7,MARCO,MAT2A,MATN3,MBD5,MBOAT2,MCEE,MCFD2,MCM6,MDH1,MEIS1,MEIS1-AS3,MEMO1,MERTK,METAP1D,METTL5,METTL8,MFSD2B,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1246,MIR1258,MIR128-1,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3127,MIR3128,MIR3679,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4265,MIR4266,MIR4267,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4444-1,MIR4757,MIR4765,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4778,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR5192,MIR548AD,MIR548N,MIR558,MIR559,MIR5696,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL30,MRPL33,MRPL35,MRPL53,MRPS5,MRPS9,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MTX2,MXD1,MYADML,MYCN,MYCNOS,MYO3B,MYO7B,MYT1L,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NBAS,NCAPH,NCK2,NCKAP1,NCKAP5,NCOA1,NEB,NEURL3,NEUROD1,NFE2L2,NFU1,NLRC4,NMI,NMS,NOL10,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,NUP35,NXPH2,ODC1,OLA1,OR7E91P,ORC4,OSBPL6,OSR1,OST4,OTOF,OTX1,OXER1,PABPC1P2,PAIP2B,PAPOLG,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PDE11A,PDE1A,PDIA6,PDK1,PELI1,PEX13,PFN4,PHOSPHO2,PHOSPHO2-KLHL23,PIGF,PKDCC,PKP4,PLA2R1,PLB1,PLEK,PLEKHA3,PLEKHB2,PLEKHH2,PLGLA,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POLR1B,POLR2D,POMC,POTEE,POTEF,POU3F3,PPIG,PPM1B,PPM1G,PPP1CB,PPP1R1C,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PRKRA,PROC,PROKR1,PROM2,PRORSD1P,PRPF40A,PSD4,PSMD14,PSME4,PTCD3,PTPN18,PTPN4,PTRHD1,PUM2,PUS10,PXDN,QPCT,R3HDM1,RAB10,RAB11FIP5,RAB1A,RAB3GAP1,RAB6C,RABL2A,RAD51AP2,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RASGRP3,RBKS,RBM43,RBM45,RBMS1,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHOB,RHOQ,RIF1,RMND5A,RNASEH1,RND3,RNF103,RNF103-CHMP3,RNF144A,RNF144A-AS1,RNF149,RNF181,RNU4ATAC,RNU6-81,ROCK2,RPIA,RPL23AP32,RPL23AP7,RPL31,RPRM,RPS27A,RPS7,RRM2,RSAD2,RTKN,RTN4,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDC1,SEMA4C,SEMA4F,SEPT10,SERTAD2,SESTD1,SF3B14,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SIX2,SIX3,SLC1A4,SLC20A1,SLC25A12,SLC30A3,SLC30A6,SLC35F5,SLC38A11,SLC3A1,SLC4A10,SLC4A1AP,SLC4A5,SLC5A6,SLC5A7,SLC8A1,SLC8A1-AS1,SLC9A2,SLC9A4,SMC6,SMEK2,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA70F,SNORA80B,SNORD53,SNORD89,SNORD92,SNORD94,SNRNP200,SNRNP27,SNRPG,SNTG2,SNX17,SOCS5,SOS1,SOWAHC,SOX11,SP3,SP5,SP9,SPAST,SPC25,SPDYA,SPOPL,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STEAP3,STK39,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SULT6B1,SUPT7L,TACR1,TAF1B,TANC1,TANK,TBC1D8,TBR1,TCF23,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THADA,THNSL2,THSD7B,THUMPD2,TIA1,TISP43,TLK1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM17,TMEM177,TMEM178A,TMEM18,TMEM182,TMEM185B,TMEM214,TMEM247,TMEM37,TMEM87B,TMSB10,TNFAIP6,TP53I3,TPO,TPRKB,TRABD2A,TRAPPC12,TRIB2,TRIM43,TRIM43B,TRIM54,TRMT61B,TSGA10,TSN,TSPYL6,TSSC1,TTC21B,TTC27,TTC30A,TTC30B,TTC31,TTC32,TTC7A,TTL,TTN,TTN-AS1,TUBA3D,TUBA3E,TXNDC9,UBE2E3,UBR3,UBXN2A,UBXN4,UCN,UGGT1,UGP2,UNC50,UNQ6975,UPP2,USP34,USP39,UXS1,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,VWA3B,WASH2P,WBP1,WDPCP,WDR33,WDR35,WDR43,WDR54,WDR92,WDSUB1,WIPF1,WTH3DI,XDH,XIRP2,XPO1,YIPF4,YPEL5,YSK4,YWHAQ,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZFP36L2,ZNF2,ZNF385B,ZNF512,ZNF513,ZNF514,ZNF638,ZNF804A,ZRANB3,ZSWIM2 chr2 67364832 67398383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC644838 chr2 673826 673907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM18 chr2 67477945 67491037 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 67477945 67491037 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr2 67477946 67491037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 67477946 67491037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 67477946 67491178 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 67484270 67484370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67529897 67529977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67532590 67532738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 67536093 67549328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 67614459 67619396 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 676938 676997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM18 chr2 67698564 67698659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 677799 678306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 67813421 67813521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67828380 67828572 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 6786783 6797273 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 6786783 6797273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 6786783 6797273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 67877950 68463624 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1D,PNO1,PPP3R1,WDR92 chr2 67884263 67884363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 67889060 67934527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 67945899 67968479 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 6798179 6798249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68019141 68463624 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C1D,PNO1,PPP3R1,WDR92 chr2 68104330 68105402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68122835 68143663 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 68122844 68143661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68122844 68143661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68180989 68201781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 68182192 68182292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68189839 68189934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68205963 68238150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68238509 68256593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68238509 68256593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68259493 68336873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1D chr2 68259493 68336873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1D chr2 68261719 68400013 Gain and loss Pancreatic cancer SNP array 17952125 C1D,PNO1,WDR92 chr2 68264061 68264530 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 68296656 68314740 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 68310562 68310651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68312857 68312925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68353740 68353842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68364807 68400523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PNO1,WDR92 chr2 68364807 68400523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PNO1,WDR92 chr2 68416067 68416125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP3R1 chr2 68431794 68458494 Gain and loss Pancreatic cancer SNP array 17952125 PPP3R1 chr2 68445826 68478088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP3R1 chr2 68445826 68478088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP3R1 chr2 68502070 68502158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68504067 68536235 Gain and loss Pancreatic cancer SNP array 17952125 CNRIP1 chr2 6853365 6853465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68543011 68547894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNRIP1 chr2 68543011 68547894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNRIP1 chr2 68545201 68545301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNRIP1 chr2 68548246 68660797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLEK chr2 68548246 68660797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEK chr2 6858467 6858567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68586688 68587490 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 68600000 75000000 Amplification Hepatocellular carcinoma Array CGH 16750200 AAK1,ACTG2,ADD2,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ASPRV1,ATP6V1B1,AUP1,BMP10,BOLA3,BOLA3-AS1,C2orf42,C2orf65,C2orf78,C2orf81,CCDC142,CCT7,CD207,CLEC4F,CYP26B1,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,DUSP11,DYSF,EGR4,EMX1,EXOC6B,FAM136A,FBXO41,FBXO48,FIGLA,GFPT1,GKN1,GKN2,GMCL1,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LOC100133985,LOXL3,MCEE,MIR3126,MOB1A,MOGS,MPHOSPH10,MRPL53,MTHFD2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,OR7E91P,PAIP2B,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PLEK,PRADC1,PROKR1,RAB11FIP5,RTKN,SEMA4F,SFXN5,SLC4A5,SMYD5,SNORA36C,SNRNP27,SNRPG,SPR,STAMBP,TET3,TEX261,TGFA,TIA1,TLX2,TPRKB,TTC31,VAX2,WBP1,WDR54,ZNF638 chr2 68600000 83300000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 AAK1,ACTG2,ADD2,ALMS1,ALMS1P,ANKRD53,ANTXR1,ANXA4,APLF,ARHGAP25,ASPRV1,ATP6V1B1,AUP1,BMP10,BOLA3,BOLA3-AS1,C2orf42,C2orf65,C2orf78,C2orf81,CCDC142,CCT7,CD207,CLEC4F,CTNNA2,CYP26B1,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,DUSP11,DYSF,EGR4,EMX1,EXOC6B,FAM136A,FAM176A,FBXO41,FBXO48,FIGLA,GCFC2,GFPT1,GKN1,GKN2,GMCL1,HK2,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LOC100133985,LOC1720,LOXL3,LRRTM1,LRRTM4,MCEE,MIR3126,MIR4264,MIR5000,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL53,MTHFD2,MXD1,NAGK,NAT8,NAT8B,NFU1,NOTO,OR7E91P,PAIP2B,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PLEK,POLE4,PRADC1,PROKR1,RAB11FIP5,REG1A,REG1B,REG1P,REG3A,REG3G,RTKN,SEMA4F,SFXN5,SLC4A5,SMYD5,SNAR-H,SNORA36C,SNRNP27,SNRPG,SPR,STAMBP,TACR1,TET3,TEX261,TGFA,TIA1,TLX2,TPRKB,TTC31,VAX2,WBP1,WDR54,ZNF638 chr2 68606393 68718944 Gain and loss Pancreatic cancer SNP array 17952125 APLF,FBXO48,PLEK chr2 68608772 68609875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLEK chr2 68614255 68736498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APLF,FBXO48,PLEK chr2 68614255 68736498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APLF,FBXO48,PLEK chr2 68645912 68645994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68648509 68648609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68651709 68651790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68661900 68662875 Loss or gain Normal 244K array 17666407 NOT_FOUND chr2 68665692 68665792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 68667009 68668022 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 68696152 68696297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APLF chr2 68726297 68736212 Gain or loss Breast cancer - 20668451 APLF chr2 68726297 68736212 Gain or loss Cancer - 20668451 APLF chr2 68726297 68736212 Gain or loss Lung cancer - 20668451 APLF chr2 68726297 68736212 Gain or loss Ovarian cancer - 20668451 APLF chr2 68726297 68736212 Gain or loss Pancreas cancer - 20668451 APLF chr2 68726297 68736212 Gain or loss Prostate cancer - 20668451 APLF chr2 68781562 68781662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APLF chr2 68784605 68794359 Gain and loss Pancreatic cancer SNP array 17952125 APLF chr2 68802520 68802604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 APLF chr2 68815471 68907461 Deletion Intellectual disability 100k SNP Array 21811512 PROKR1 chr2 68815471 68907469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PROKR1 chr2 68815471 68907469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PROKR1 chr2 68855436 68907461 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PROKR1 chr2 68913584 68965606 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP25 chr2 68946117 68952153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68946117 68952153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 68964297 68964397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP25 chr2 68984078 68984178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP25 chr2 69004264 69010300 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP25 chr2 69025871 69033606 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP25 chr2 69025871 69033606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP25 chr2 69025871 69033606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP25 chr2 69055209 69061616 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 69055209 69061616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 69055209 69061616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 6905904 6923387 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LINC00487 chr2 6905904 6923387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00487 chr2 6905904 6923387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00487 chr2 69069318 69070846 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 69084016 69152018 Gain and loss Pancreatic cancer SNP array 17952125 BMP10 chr2 69093942 69329806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANTXR1,BMP10,GKN1,GKN2 chr2 69093942 69329806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANTXR1,BMP10,GKN1,GKN2 chr2 69093993 69329804 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANTXR1,BMP10,GKN1,GKN2 chr2 69111477 69111551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 69113356 69119757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 6914000 7247000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 CMPK2,RNF144A,RNF144A-AS1,RSAD2 chr2 69152140 69387946 Gain and loss Pancreatic cancer SNP array 17952125 ANTXR1,GKN1,GKN2,MIR3126 chr2 69254071 69927824 Loss Normal 244K array 17666407 AAK1,ANTXR1,GFPT1,MIR3126,NFU1,SNORA36C chr2 69281226 69315191 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANTXR1 chr2 69283619 69283706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANTXR1 chr2 69310947 69311022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANTXR1 chr2 69321660 69321763 Gain and loss Pancreatic cancer SNP array 17952125 ANTXR1 chr2 69351696 70007352 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AAK1,ANTXR1,ANXA4,GFPT1,NFU1,SNORA36C chr2 69351696 70007352 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AAK1,ANTXR1,ANXA4,GFPT1,NFU1,SNORA36C chr2 6935247 6955814 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 6935247 6955814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 6935247 6955814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 6936952 6937041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 69386001 69388500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANTXR1 chr2 6939051 6942234 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 69405907 69467886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANTXR1 chr2 69405907 69467886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANTXR1 chr2 69415236 69415325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANTXR1 chr2 6942273 6956425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 69428030 69428130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANTXR1 chr2 69438750 69438850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANTXR1 chr2 69458651 69458713 Gain and loss Pancreatic cancer SNP array 17952125 ANTXR1 chr2 69464054 69526033 Gain and loss Pancreatic cancer SNP array 17952125 ANTXR1 chr2 69472764 69472864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANTXR1 chr2 69473383 69473472 Gain and loss Pancreatic cancer SNP array 17952125 ANTXR1 chr2 69476386 69518257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANTXR1 chr2 69476386 69518257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANTXR1 chr2 69476756 69518257 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 69525776 69526315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 69534550 69576404 Gain and loss Pancreatic cancer SNP array 17952125 GFPT1 chr2 69539918 69547168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFPT1 chr2 69540814 69541069 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 69542036 69724353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AAK1,GFPT1,NFU1 chr2 69542036 69724353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAK1,GFPT1,NFU1 chr2 69544951 69545031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 69563169 70026830 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 AAK1,ANXA4,GFPT1,NFU1,SNORA36C chr2 695636 912174 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 LOC339822 chr2 69597387 69597680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFPT1 chr2 69597387 69597682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFPT1 chr2 69598065 69605315 Gain and loss Pancreatic cancer SNP array 17952125 GFPT1 chr2 69600679 69600810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFPT1 chr2 69602463 69602563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GFPT1 chr2 69619839 69782500 Gain and loss Pancreatic cancer SNP array 17952125 AAK1,NFU1,SNORA36C chr2 69655534 69655829 Gain and loss Pancreatic cancer SNP array 17952125 NFU1 chr2 6965631 6974354 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 69658826 69658957 Gain and loss Pancreatic cancer SNP array 17952125 NFU1 chr2 69669931 69670031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 6968506 6986973 Gain and loss Pancreatic cancer SNP array 17952125 CMPK2 chr2 69710806 69710906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AAK1 chr2 69723955 69724713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAK1 chr2 69747995 69748097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAK1 chr2 6974974 7101758 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CMPK2,RNF144A,RNF144A-AS1,RSAD2 chr2 6974974 7101761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMPK2,RNF144A,RNF144A-AS1,RSAD2 chr2 6974974 7101761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMPK2,RNF144A,RNF144A-AS1,RSAD2 chr2 69761778 69761872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AAK1 chr2 69800000 136600000 Loss Myxofibrosarcoma Array CGH 16751306 AAK1,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR3,ACTR3BP2,ADD2,ADRA2B,AFF3,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANXA4,ARHGEF4,ARID5A,ASPRV1,ASTL,ATOH8,ATP6V1B1,AUP1,BCL2L11,BIN1,BOLA3,BOLA3-AS1,BUB1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf49,C2orf65,C2orf68,C2orf76,C2orf78,C2orf81,CAPG,CBWD2,CCDC115,CCDC138,CCDC142,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CCT7,CD207,CD8A,CD8B,CFC1,CFC1B,CHCHD5,CHMP3,CHST10,CIAO1,CKAP2L,CLASP1,CLEC4F,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COX5B,CREG2,CTNNA2,CYP26B1,CYP27C1,CYP4F30P,DBI,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DGUOK,DNAH6,DOK1,DPP10,DQX1,DUSP11,DUSP2,DYSF,EDAR,EGR4,EIF2AK3,EIF5B,ELMOD3,EMX1,EN1,EPB41L5,ERCC3,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM136A,FAM138B,FAM168B,FAM176A,FAM178B,FBLN7,FBXO41,FER1L5,FHL2,FIGLA,FLJ42351,FOXD4L1,FOXI3,FUNDC2P2,GCC2,GCFC2,GGCX,GGT8P,GLI2,GMCL1,GNLY,GPAT2,GPR148,GPR17,GPR39,GPR45,GYPC,HK2,HS6ST1,HTRA2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCMF1,KCNIP3,KDM3A,KIAA1211L,KRCC1,LBX2,LBX2-AS1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LIPT1,LMAN2L,LOC100129961,LOC100131320,LOC100133985,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC100507600,LOC100630918,LOC150568,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC646743,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRRTM1,LRRTM4,LYG1,LYG2,LYPD1,MAL,MALL,MAP3K2,MAP4K4,MARCO,MAT2A,MCEE,MCM6,MERTK,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR3127,MIR3679,MIR4264,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4772,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR5000,MIR5696,MIR663B,MITD1,MKI67IP,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL30,MRPL35,MRPL53,MRPS5,MRPS9,MTHFD2,MXD1,MYO7B,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NCAPH,NCK2,NCKAP5,NEURL3,NMS,NOTO,NPAS2,NPHP1,OR7E91P,PAIP2B,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PLEKHB2,PLGLA,PLGLB1,PLGLB2,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PRADC1,PROC,PROM2,PSD4,PTCD3,PTPN18,PTPN4,R3HDM1,RAB11FIP5,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RMND5A,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RNU6-81,RPIA,RPL23AP7,RPL31,RTKN,SAP130,SCTR,SEMA4C,SEMA4F,SEPT10,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SMYD1,SMYD5,SNAR-H,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SPR,ST3GAL5,ST6GAL2,STAMBP,STARD7,STEAP3,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TACR1,TBC1D8,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THNSL2,TIA1,TISP43,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TMSB10,TPRKB,TRABD2A,TRIM43,TRIM43B,TSGA10,TSN,TTC31,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN4,UGGT1,UNC50,USP39,UXS1,VAMP5,VAMP8,VAX2,VWA3B,WASH2P,WBP1,WDR33,WDR54,WTH3DI,YSK4,ZAP70,ZC3H6,ZC3H8,ZNF2,ZNF514,ZNF638,ZRANB3 chr2 69800000 182700000 Loss Glioblastoma multiforme aCGH 21080181 AAK1,ABCB11,ACMSD,ACOXL,ACTG2,ACTR1B,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ADD2,ADRA2B,AFF3,AGPS,ALMS1,ALMS1P,AMMECR1L,ANAPC1,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD53,ANXA4,ARHGAP15,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASPRV1,ASTL,ATF2,ATOH8,ATP5G3,ATP6V1B1,AUP1,B3GALT1,BAZ2B,BBS5,BCL2L11,BIN1,BOLA3,BOLA3-AS1,BUB1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf42,C2orf49,C2orf65,C2orf68,C2orf76,C2orf78,C2orf81,CACNB4,CAPG,CBWD2,CCDC115,CCDC138,CCDC141,CCDC142,CCDC148,CCDC148-AS1,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CCT7,CD207,CD302,CD8A,CD8B,CDCA7,CERKL,CERS6,CFC1,CFC1B,CHCHD5,CHMP3,CHN1,CHRNA1,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLEC4F,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COBLL1,COX5B,CREG2,CSRNP3,CTNNA2,CWC22,CXCR4,CYBRD1,CYP26B1,CYP27C1,CYP4F30P,CYTIP,DAPL1,DARS,DBI,DCAF17,DCTN1,DCTN1-AS1,DDX11L2,DDX18,DFNB59,DGUOK,DHRS9,DKFZp686O1327,DLX1,DLX2,DNAH6,DOK1,DPP10,DPP4,DQX1,DUSP11,DUSP2,DYNC1I2,DYSF,EDAR,EGR4,EIF2AK3,EIF5B,ELMOD3,EMX1,EN1,EPB41L5,EPC2,ERCC3,ERMN,EVX2,EXOC6B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM136A,FAM138B,FAM168B,FAM176A,FAM178B,FAP,FASTKD1,FBLN7,FBXO41,FER1L5,FHL2,FIGLA,FIGN,FKBP7,FLJ42351,FMNL2,FOXD4L1,FOXI3,FUNDC2P2,G6PC2,GAD1,GALNT13,GALNT3,GALNT5,GCA,GCC2,GCFC2,GCG,GGCX,GGT8P,GLI2,GMCL1,GNLY,GORASP2,GPAT2,GPD2,GPR148,GPR155,GPR17,GPR39,GPR45,GRB14,GTDC1,GYPC,HAT1,HK2,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HTRA2,IFIH1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMMT,IMP4,INHBB,INO80B,INO80B-WBP1,INPP4A,INSIG2,ITGA4,ITGA6,ITGB6,ITPRIPL1,IWS1,KANSL3,KBTBD10,KCMF1,KCNH7,KCNIP3,KCNJ3,KDM3A,KIAA1211L,KIAA1715,KIF5C,KLHL23,KRCC1,KYNU,LBX2,LBX2-AS1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LIPT1,LMAN2L,LOC100129961,LOC100130691,LOC100131320,LOC100133985,LOC100144595,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507334,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC151009,LOC1720,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LOXL3,LRP1B,LRP2,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K4,MARCH7,MARCO,MAT2A,MBD5,MCEE,MCM6,MERTK,METAP1D,METTL5,METTL8,MFSD9,MGAT4A,MGAT5,MIR10B,MIR1246,MIR1258,MIR128-1,MIR3127,MIR3128,MIR3679,MIR4264,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR5000,MIR548N,MIR5696,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MMADHC,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL30,MRPL35,MRPL53,MRPS5,MRPS9,MTHFD2,MTX2,MXD1,MYO3B,MYO7B,MZT2A,MZT2B,NAGK,NAT8,NAT8B,NCAPH,NCK2,NCKAP5,NEB,NEURL3,NEUROD1,NFE2L2,NMI,NMS,NOSTRIN,NOTO,NPAS2,NPHP1,NR4A2,NXPH2,OLA1,OR7E91P,ORC4,OSBPL6,PABPC1P2,PAIP2B,PAX8,PCBP1,PCBP1-AS1,PCDP1,PCGF1,PCYOX1,PDCL3,PDE11A,PDK1,PHOSPHO2,PHOSPHO2-KLHL23,PKP4,PLA2R1,PLEKHA3,PLEKHB2,PLGLA,PLGLB1,PLGLB2,POLE4,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PPIG,PRADC1,PRKRA,PROC,PROM2,PRPF40A,PSD4,PSMD14,PTCD3,PTPN18,PTPN4,R3HDM1,RAB11FIP5,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RAPGEF4,RAPGEF4-AS1,RBM43,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,RETSAT,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNU4ATAC,RNU6-81,RPIA,RPL23AP7,RPL31,RPRM,RTKN,SAP130,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SEMA4C,SEMA4F,SEPT10,SESTD1,SFT2D3,SFTPB,SFXN5,SH2D6,SH3RF3,SH3RF3-AS1,SLC20A1,SLC25A12,SLC35F5,SLC38A11,SLC4A10,SLC4A5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SMYD1,SMYD5,SNAR-H,SNORA70F,SNORD89,SNORD94,SNRNP200,SNRNP27,SNRPG,SOWAHC,SP3,SP5,SP9,SPC25,SPOPL,SPR,SSB,ST3GAL5,ST6GAL2,STAM2,STAMBP,STARD7,STEAP3,STK39,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TET3,TEX261,TEX37,TFCP2L1,TGFA,TGFBRAP1,TGOLN2,THNSL2,THSD7B,TIA1,TISP43,TLK1,TLX2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TMSB10,TNFAIP6,TPRKB,TRABD2A,TRIM43,TRIM43B,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTC31,TTL,TTN,TTN-AS1,TUBA3D,TUBA3E,TXNDC9,UBE2E3,UBR3,UBXN4,UGGT1,UNC50,UPP2,USP39,UXS1,VAMP5,VAMP8,VAX2,VWA3B,WASH2P,WBP1,WDR33,WDR54,WDSUB1,WIPF1,WTH3DI,XIRP2,YSK4,ZAK,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZNF2,ZNF385B,ZNF514,ZNF638,ZRANB3 chr2 69806142 69806244 Gain and loss Pancreatic cancer SNP array 17952125 AAK1 chr2 69822610 69907095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AAK1 chr2 69822610 69907095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AAK1 chr2 69836638 69855959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AAK1 chr2 69880917 69965252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 69910336 69960267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 69910336 69960267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 69968483 70018414 Gain and loss Pancreatic cancer SNP array 17952125 ANXA4 chr2 69974594 69985854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANXA4 chr2 69974594 69985854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA4 chr2 69977 70077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 69978299 69979059 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANXA4 chr2 69978549 69979069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANXA4 chr2 69993331 69993434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA4 chr2 69995707 70023581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANXA4 chr2 69995707 70023581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA4 chr2 7000000 12800000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00570,LOC100506274,LOC339788,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SNORA80B,TAF1B,YWHAQ chr2 7000000 12800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00570,LOC100506274,LOC339788,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SNORA80B,TAF1B,YWHAQ chr2 7000000 12800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00570,LOC100506274,LOC339788,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SNORA80B,TAF1B,YWHAQ chr2 7000000 12800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00570,LOC100506274,LOC339788,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SNORA80B,TAF1B,YWHAQ chr2 7000000 47600000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 ABCG5,ABCG8,ABHD1,ADAM17,ADCY3,AGBL5,ALK,APOB,ARHGEF33,ASAP2,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EPAS1,EPCAM,EPT1,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FEZ2,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LINC00299,LINC00486,LINC00570,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506274,LOC100506474,LOC339788,LOC375196,LOC388942,LOC388948,LOC645949,LOC728730,LOC728819,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR548AD,MIR558,MORN2,MPV17,MRPL33,MSGN1,MTA3,MYADML,MYCN,MYCNOS,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OXER1,PDIA6,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,POMC,PPM1B,PPM1G,PPP1CB,PQLC3,PREB,PREPL,PRKCE,PRKD3,PTRHD1,PUM2,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,RNF144A,RNF144A-AS1,ROCK2,RRM2,RSAD2,SDC1,SF3B14,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SNORA80B,SNORD53,SNORD92,SNX17,SOCS5,SOS1,SPAST,SPDYA,SRBD1,SRD5A2,SRSF7,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM178A,TMEM214,TMEM247,TP53I3,TRIB2,TRIM54,TRMT61B,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 70006940 70738084 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA4,ASPRV1,C2orf42,FAM136A,GMCL1,LOC100133985,MXD1,PCBP1,PCBP1-AS1,PCYOX1,SNRNP27,SNRPG,TGFA,TIA1 chr2 70006940 70738084 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA4,ASPRV1,C2orf42,FAM136A,GMCL1,LOC100133985,MXD1,PCBP1,PCBP1-AS1,PCYOX1,SNRNP27,SNRPG,TGFA,TIA1 chr2 70032741 70043999 Gain and loss Pancreatic cancer SNP array 17952125 ANXA4 chr2 70036281 70036381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA4 chr2 70040725 70042901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANXA4 chr2 70040725 70042901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA4 chr2 70040727 70042901 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ANXA4 chr2 70051478 70051581 Gain and loss Pancreatic cancer SNP array 17952125 ANXA4 chr2 70053968 70077256 Gain and loss Pancreatic cancer SNP array 17952125 GMCL1 chr2 70067658 70067758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GMCL1 chr2 7008121 7134905 Gain and loss Pancreatic cancer SNP array 17952125 RNF144A,RNF144A-AS1,RSAD2 chr2 70094428 70094528 Gain and loss Pancreatic cancer SNP array 17952125 GMCL1 chr2 70099440 70100471 Gain and loss Pancreatic cancer SNP array 17952125 GMCL1 chr2 70142169 70142233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MXD1 chr2 70168106 70169776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MXD1 chr2 70168106 70169776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MXD1 chr2 70169042 70169081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MXD1 chr2 7020015 7051563 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RSAD2 chr2 70202528 70202573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCBP1-AS1 chr2 70204672 70205952 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PCBP1-AS1 chr2 70219174 70219251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCBP1-AS1 chr2 70226350 70227983 Gain and loss Pancreatic cancer SNP array 17952125 PCBP1-AS1 chr2 70230520 70271655 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PCBP1-AS1 chr2 70230523 70271655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCBP1-AS1 chr2 70230523 70271655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCBP1-AS1 chr2 70288670 70329802 Gain and loss Pancreatic cancer SNP array 17952125 PCBP1,PCBP1-AS1 chr2 70292320 70329251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCBP1,PCBP1-AS1 chr2 70292320 70329251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCBP1,PCBP1-AS1 chr2 70333554 70333641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 70338760 70360418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100133985 chr2 70338760 70360418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100133985 chr2 70350467 70387398 Gain and loss Pancreatic cancer SNP array 17952125 C2orf42,LOC100133985 chr2 70362012 70374373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 70362012 70374373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 70376611 70382724 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C2orf42 chr2 70376613 70382705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf42 chr2 70376613 70382705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf42 chr2 7039335 7084013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RNF144A,RNF144A-AS1 chr2 70396907 70418567 Gain and loss Pancreatic cancer SNP array 17952125 C2orf42 chr2 70420159 70432520 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 70434760 70440852 Gain and loss Pancreatic cancer SNP array 17952125 TIA1 chr2 70434818 70671402 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 FAM136A,PCYOX1,SNRPG,TIA1 chr2 70458376 70627600 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM136A,PCYOX1,SNRPG,TIA1 chr2 70458504 70627600 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM136A,PCYOX1,SNRPG,TIA1 chr2 70487311 70520723 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCYOX1,SNRPG chr2 70500000 72600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADD2,ANKRD53,ATP6V1B1,CD207,CLEC4F,CYP26B1,DYSF,EXOC6B,FAM136A,FIGLA,MCEE,MPHOSPH10,NAGK,OR7E91P,PAIP2B,PCYOX1,SNRPG,TEX261,TGFA,VAX2,ZNF638 chr2 70501129 70501229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCYOX1 chr2 7050398 7050509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 7050695 7050768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70512901 70517800 Deletion Glioma mate-paired sequence 20126413 SNRPG chr2 70514839 70515900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SNRPG chr2 70527924 70634613 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM136A chr2 70527924 70634613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM136A chr2 70527924 70634613 Gain or loss Breast cancer - 20668451 FAM136A chr2 70527924 70634613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM136A chr2 70527924 70634613 Gain or loss Cancer - 20668451 FAM136A chr2 70527924 70634613 Gain or loss Lung cancer - 20668451 FAM136A chr2 70527924 70634613 Gain or loss Ovarian cancer - 20668451 FAM136A chr2 70527924 70634613 Gain or loss Pancreas cancer - 20668451 FAM136A chr2 70527924 70634613 Gain or loss Prostate cancer - 20668451 FAM136A chr2 70536170 70536264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 70542188 70542288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70556163 70556249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70559882 70559966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70582018 70582118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70586074 70692585 Gain and loss Pancreatic cancer SNP array 17952125 TGFA chr2 70666815 70666878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70678518 70678613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFA chr2 70742773 70848837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGFA chr2 70742773 70848837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFA chr2 70749423 70749513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFA chr2 70797501 70797712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70797703 70797903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70800920 70906984 Gain and loss Pancreatic cancer SNP array 17952125 ADD2 chr2 70847748 70871283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 70847748 70871283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 70853497 70853592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70871558 70905459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADD2 chr2 7087875 7087975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF144A chr2 70882201 70882264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 70883797 70884066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 70889290 70901240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADD2 chr2 70889290 70901240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADD2 chr2 70910855 70916460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADD2 chr2 70910855 70916460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADD2 chr2 70924193 70929377 Gain and loss Pancreatic cancer SNP array 17952125 ADD2 chr2 70941944 70942213 Gain and loss Pancreatic cancer SNP array 17952125 ADD2 chr2 70947437 70959387 Gain and loss Pancreatic cancer SNP array 17952125 ADD2 chr2 70961569 70961601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADD2 chr2 70968001 71089500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADD2,CD207,CLEC4F,FIGLA chr2 70969003 70974561 Gain and loss Pancreatic cancer SNP array 17952125 ADD2 chr2 70981228 71014081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADD2,FIGLA chr2 70981228 71014081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADD2,FIGLA chr2 70993516 70993590 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADD2 chr2 7100000 12200000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00570,LOC100506274,LOC339788,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RNF144A,ROCK2,RRM2,SNORA80B,TAF1B,YWHAQ chr2 7100000 12200000 Gain and amplification Multiple myeloma Array CGH 16616336 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00570,LOC100506274,LOC339788,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RNF144A,ROCK2,RRM2,SNORA80B,TAF1B,YWHAQ chr2 7100000 12200000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00570,LOC100506274,LOC339788,LPIN1,MBOAT2,MIR4261,MIR4262,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,RNF144A,ROCK2,RRM2,SNORA80B,TAF1B,YWHAQ chr2 7100000 90500000 Gain Myofibroblastic sarcoma CGH 19369631 AAK1,ABCG5,ABCG8,ABHD1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,AFTPH,AGBL5,AHSA2,ALK,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CNRIP1,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM136A,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,ID2,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00299,LINC00309,LINC00486,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506274,LOC100506474,LOC100630918,LOC1720,LOC284950,LOC285074,LOC339788,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC644838,LOC645949,LOC728730,LOC728819,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNF103,RNF103-CHMP3,RNF144A,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RRM2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM214,TMEM247,TMSB10,TP53I3,TPRKB,TRABD2A,TRIB2,TRIM54,TRMT61B,TSPYL6,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 71016506 71046068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLEC4F,FIGLA chr2 71016506 71046068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC4F,FIGLA chr2 71017711 71017760 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FIGLA chr2 71039375 71072228 Gain and loss Pancreatic cancer SNP array 17952125 CD207,CLEC4F chr2 71046209 71046505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLEC4F chr2 71059083 71065977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD207 chr2 71059083 71065977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD207 chr2 71066575 71075509 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 71066578 71075509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 71066578 71075509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 71074676 71104210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 71097351 71128959 Substitutions and indels small cell lung cancer array-CGH 20016488 VAX2 chr2 71104356 71104652 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 71104711 71110566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 71104711 71110566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 71104712 71110568 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr2 7110613 7277801 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 RNF144A chr2 71117230 71124124 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 71118444 71118756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 71124725 71133656 Gain and loss Pancreatic cancer SNP array 17952125 VAX2 chr2 71126996 71127068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 71133228 71134440 Gain and loss Pancreatic cancer SNP array 17952125 VAX2 chr2 71136123 86905215 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTG2,ALMS1,ALMS1P,ANKRD53,ATOH8,ATP6V1B1,AUP1,BOLA3,BOLA3-AS1,C2orf65,C2orf68,C2orf78,C2orf81,CAPG,CCDC142,CCT7,CHMP3,CTNNA2,CYP26B1,DCTN1,DCTN1-AS1,DGUOK,DNAH6,DOK1,DQX1,DUSP11,DYSF,EGR4,ELMOD3,EMX1,EXOC6B,FAM176A,FBXO41,FUNDC2P2,GCFC2,GGCX,GNLY,HK2,HTRA2,IMMT,INO80B,INO80B-WBP1,KCMF1,KDM3A,LBX2,LBX2-AS1,LOC100630918,LOC1720,LOC284950,LOC90784,LOXL3,LRRTM1,LRRTM4,MAT2A,MCEE,MIR4264,MIR4779,MIR5000,MOB1A,MOGS,MPHOSPH10,MRPL19,MRPL35,MRPL53,MTHFD2,NAGK,NAT8,NAT8B,NOTO,OR7E91P,PAIP2B,PCGF1,POLE4,POLR1A,PRADC1,PTCD3,RAB11FIP5,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,RETSAT,RNF103,RNF103-CHMP3,RNF181,RTKN,SEMA4F,SFTPB,SFXN5,SH2D6,SLC4A5,SMYD5,SNAR-H,SNORD94,SPR,ST3GAL5,STAMBP,SUCLG1,TACR1,TCF7L1,TET3,TEX261,TGOLN2,TLX2,TMEM150A,TMSB10,TPRKB,TRABD2A,TTC31,USP39,VAMP5,VAMP8,VAX2,WBP1,WDR54,ZNF638 chr2 71148955 71159279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VAX2 chr2 71148955 71159279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAX2 chr2 71162294 71186619 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATP6V1B1 chr2 71163094 71186619 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATP6V1B1 chr2 71163924 71163993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP6V1B1 chr2 71167813 71168391 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1B1 chr2 71169128 71169228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP6V1B1 chr2 71172067 71175294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP6V1B1 chr2 7117408 8624853 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00299,LOC100506274,LOC339788,RNF144A chr2 71176491 71194901 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1B1 chr2 71185143 71185215 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1B1 chr2 71190322 71210875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD53,ATP6V1B1 chr2 71190322 71210875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD53,ATP6V1B1 chr2 71204935 71205087 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 71206398 71209561 Gain Normal 244K array 17666407 ANKRD53 chr2 71206985 71207073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD53 chr2 71207102 71217426 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD53,TEX261 chr2 71210951 71230738 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ANKRD53,TEX261 chr2 71210952 71230738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD53,TEX261 chr2 71210952 71230738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD53,TEX261 chr2 71230317 71453862 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MCEE,MPHOSPH10,NAGK,OR7E91P,PAIP2B chr2 71230317 71829429 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DYSF,MCEE,MPHOSPH10,NAGK,OR7E91P,PAIP2B,ZNF638 chr2 71247247 71284037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OR7E91P chr2 71248474 71269014 Gain and loss Pancreatic cancer SNP array 17952125 OR7E91P chr2 71268944 71307709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NAGK chr2 71268944 71307709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAGK chr2 71269099 71288885 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 71321524 71365868 Gain and loss Pancreatic cancer SNP array 17952125 MCEE,MPHOSPH10 chr2 7135336 7340939 Loss Normal Birdsuite, version 1.5.2 22087296 RNF144A chr2 71357231 71515699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCEE,MPHOSPH10,PAIP2B chr2 7138361 7138461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF144A chr2 71445100 71475549 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PAIP2B chr2 71445100 71481368 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PAIP2B chr2 71451137 71475549 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PAIP2B chr2 71460393 71460496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 71470549 71573842 Gain and loss Pancreatic cancer SNP array 17952125 ZNF638 chr2 71518540 71518643 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 71518541 71518641 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 71534001 71580500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF638 chr2 71534267 71767401 Deletion Autosomal-recessive limb girdle muscular dystrophy array CGH 22150418 DYSF,ZNF638 chr2 71534267 71767401 Deletion Non-syndromic sensorineural hearing loss array CGH 22150418 DYSF,ZNF638 chr2 71534268 71767398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DYSF,ZNF638 chr2 71534268 71767398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DYSF,ZNF638 chr2 715574 715741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 71560520 71560620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF638 chr2 71580501 71588000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF638 chr2 71588001 71631500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF638 chr2 71592415 71825545 Gain and loss Pancreatic cancer SNP array 17952125 DYSF,ZNF638 chr2 71631501 71651000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF638 chr2 71651001 71656000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF638 chr2 71656001 71696000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYSF,ZNF638 chr2 71692114 71692214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYSF chr2 71696001 71765500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYSF chr2 71749473 71749573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYSF chr2 71765501 71767000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYSF chr2 71767001 71780500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYSF chr2 71772115 71772205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DYSF chr2 717756 720052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 71780501 71787000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYSF chr2 71787001 71866000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYSF chr2 7179981 7180081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF144A chr2 71842644 71876700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DYSF chr2 71845577 71845612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYSF chr2 71861348 71861423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYSF chr2 71866001 71880000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYSF chr2 71869885 71869923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYSF chr2 71880001 72160000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DYSF chr2 71899403 71899503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYSF chr2 71936111 71936211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 71937596 71937694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 7196330 7196430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 7198799 7199125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 7200000 19500000 Copy number Kartagener syndrome reference 16639409 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CPSF3,CYS1,DDX1,E2F6,FAM49A,FAM84A,FLJ33534,GEN1,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KCNS3,KIDINS220,KLF11,LINC00299,LINC00570,LOC100506274,LOC100506474,LOC339788,LPIN1,MBOAT2,MIR3125,MIR4261,MIR4262,MIR4429,MSGN1,MYCN,MYCNOS,NBAS,NOL10,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,PDIA6,PQLC3,RAD51AP2,RDH14,ROCK2,RRM2,SMC6,SNORA80B,TAF1B,TRIB2,VSNL1,YWHAQ chr2 72020331 73188033 LOH Normal High-resolution SNP genotyping 21211785 CYP26B1,EMX1,EXOC6B,SFXN5,SPR chr2 72027246 72027346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 72036505 72036605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 72113641 72113686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 72121415 74222043 LOH Normal High-resolution SNP genotyping 21211785 ACTG2,ALMS1,ALMS1P,C2orf78,CCT7,CYP26B1,DGUOK,DUSP11,EGR4,EMX1,EXOC6B,FBXO41,NAT8,NAT8B,NOTO,PRADC1,RAB11FIP5,SFXN5,SMYD5,SPR,STAMBP,TPRKB chr2 72155740 72155838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 72160001 72166500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 72166501 72211500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 72180260 73013521 LOH Normal High-resolution SNP genotyping 21211785 CYP26B1,EXOC6B chr2 72209875 72228471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 72209875 72228471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 72211501 72231500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 72213328 72213420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 72231501 72240500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 72256621 72906685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP26B1,EXOC6B chr2 72256621 72906685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP26B1,EXOC6B chr2 72268022 72286618 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 72268031 86971920 Deletion Acute myeloid leukemia - 21251322 ACTG2,ALMS1,ALMS1P,ATOH8,AUP1,BOLA3,BOLA3-AS1,C2orf65,C2orf68,C2orf78,C2orf81,CAPG,CCDC142,CCT7,CHMP3,CTNNA2,CYP26B1,DCTN1,DCTN1-AS1,DGUOK,DNAH6,DOK1,DQX1,DUSP11,EGR4,ELMOD3,EMX1,EXOC6B,FAM176A,FBXO41,FUNDC2P2,GCFC2,GGCX,GNLY,HK2,HTRA2,IMMT,INO80B,INO80B-WBP1,KCMF1,KDM3A,LBX2,LBX2-AS1,LOC100630918,LOC1720,LOC284950,LOC90784,LOXL3,LRRTM1,LRRTM4,MAT2A,MIR4264,MIR4779,MIR5000,MOB1A,MOGS,MRPL19,MRPL35,MRPL53,MTHFD2,NAT8,NAT8B,NOTO,PCGF1,POLE4,POLR1A,PRADC1,PTCD3,RAB11FIP5,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,RETSAT,RMND5A,RNF103,RNF103-CHMP3,RNF181,RTKN,SEMA4F,SFTPB,SFXN5,SH2D6,SLC4A5,SMYD5,SNAR-H,SNORD94,SPR,ST3GAL5,STAMBP,SUCLG1,TACR1,TCF7L1,TET3,TGOLN2,TLX2,TMEM150A,TMSB10,TPRKB,TRABD2A,TTC31,USP39,VAMP5,VAMP8,WBP1,WDR54 chr2 72302137 72302217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 72317998 72964809 Gain and loss Pancreatic cancer SNP array 17952125 CYP26B1,EXOC6B chr2 7231938 7232268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 7232005 7232258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 72364579 72364619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP26B1 chr2 72365807 72365887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CYP26B1 chr2 72368712 74335283 LOH Normal High-resolution SNP genotyping 21211785 ACTG2,ALMS1,ALMS1P,C2orf78,CCT7,CYP26B1,DGUOK,DUSP11,EGR4,EMX1,EXOC6B,FBXO41,NAT8,NAT8B,NOTO,PRADC1,RAB11FIP5,SFXN5,SMYD5,SPR,STAMBP,TET3,TPRKB chr2 72382277 72382372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 72429913 72430013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 72434740 72434840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 7247844 7276943 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 72515563 72560966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EXOC6B chr2 7257000 9472000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ASAP2,ID2,KIDINS220,LINC00299,LOC100506274,LOC339788,MBOAT2 chr2 72600000 73900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALMS1,ALMS1P,CCT7,EGR4,EMX1,EXOC6B,FBXO41,NAT8,NOTO,PRADC1,RAB11FIP5,SFXN5,SMYD5,SPR chr2 72656528 72656628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 72686263 72720894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EXOC6B chr2 72764900 72795566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EXOC6B chr2 72802443 72802640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC6B chr2 72841171 72841239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC6B chr2 72860590 72860782 Gain and loss Pancreatic cancer SNP array 17952125 EXOC6B chr2 72860590 72860783 Gain and loss Pancreatic cancer SNP array 17952125 EXOC6B chr2 72890821 72890921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 72912350 72912450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 72916311 72916411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 72926674 72926754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 72967501 72969000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EXOC6B chr2 72968019 72972797 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EXOC6B chr2 72968056 72972794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOC6B chr2 72968056 72972794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC6B chr2 72969001 72996000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EXOC6B chr2 72976304 73973352 LOH Normal High-resolution SNP genotyping 21211785 ALMS1,ALMS1P,CCT7,EGR4,EMX1,EXOC6B,FBXO41,NAT8,NAT8B,NOTO,PRADC1,RAB11FIP5,SFXN5,SMYD5,SPR,TPRKB chr2 72976304 73975792 LOH Normal High-resolution SNP genotyping 21211785 ALMS1,ALMS1P,CCT7,EGR4,EMX1,EXOC6B,FBXO41,NAT8,NAT8B,NOTO,PRADC1,RAB11FIP5,SFXN5,SMYD5,SPR,TPRKB chr2 72978771 72978871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 729939 730899 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 729941 730246 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 72996001 73055000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EXOC6B chr2 72996897 73015528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOC6B chr2 72996897 73015528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOC6B chr2 73001242 73001342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EXOC6B chr2 73022672 73152473 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EMX1,EXOC6B,SPR chr2 73022673 73152473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMX1,EXOC6B,SPR chr2 73022673 73152473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMX1,EXOC6B,SPR chr2 73026201 73030941 Gain and loss Pancreatic cancer SNP array 17952125 EXOC6B chr2 73030927 73976157 LOH Normal High-resolution SNP genotyping 21211785 ALMS1,ALMS1P,CCT7,EGR4,EMX1,EXOC6B,FBXO41,NAT8,NAT8B,NOTO,PRADC1,RAB11FIP5,SFXN5,SMYD5,SPR,TPRKB chr2 73054329 73975792 LOH Normal High-resolution SNP genotyping 21211785 ALMS1,ALMS1P,CCT7,EGR4,EMX1,FBXO41,NAT8,NAT8B,NOTO,PRADC1,RAB11FIP5,SFXN5,SMYD5,SPR,TPRKB chr2 73056259 73073131 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73063001 73082000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 73080821 73210620 Gain and loss Pancreatic cancer SNP array 17952125 EMX1,SFXN5,SPR chr2 73082001 73151000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMX1,SPR chr2 73086805 73086905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 73140263 73140548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 73151001 73170500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EMX1,SFXN5 chr2 73154019 73193654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMX1,SFXN5 chr2 73154019 73193654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMX1,SFXN5 chr2 73158093 73158188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EMX1 chr2 73161131 73161231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EMX1 chr2 73170501 73313500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAB11FIP5,SFXN5 chr2 73172106 73172206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFXN5 chr2 73193514 73193581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFXN5 chr2 73212165 73251801 Gain and loss Pancreatic cancer SNP array 17952125 SFXN5 chr2 73218813 73975012 LOH Normal High-resolution SNP genotyping 21211785 ALMS1,ALMS1P,CCT7,EGR4,FBXO41,NAT8,NAT8B,NOTO,PRADC1,RAB11FIP5,SFXN5,SMYD5,TPRKB chr2 73231573 73231673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFXN5 chr2 73283327 73291565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SFXN5 chr2 73283327 73291565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFXN5 chr2 73284440 73284752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SFXN5 chr2 73294874 73307863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP5,SFXN5 chr2 73294874 73307863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP5,SFXN5 chr2 73308641 73313864 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RAB11FIP5 chr2 73308644 73313864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP5 chr2 73308644 73313864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP5 chr2 73313501 73315500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAB11FIP5 chr2 73314871 73333657 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RAB11FIP5 chr2 73314874 73333655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP5 chr2 73314874 73333655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP5 chr2 73324517 73324617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB11FIP5 chr2 73335307 73351551 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RAB11FIP5 chr2 73335307 73351551 Gain or loss Breast cancer - 20668451 RAB11FIP5 chr2 73335307 73351551 Gain or loss Cancer - 20668451 RAB11FIP5 chr2 73335307 73351551 Gain or loss Lung cancer - 20668451 RAB11FIP5 chr2 73335307 73351551 Gain or loss Ovarian cancer - 20668451 RAB11FIP5 chr2 73335307 73351551 Gain or loss Pancreas cancer - 20668451 RAB11FIP5 chr2 73335307 73351551 Gain or loss Prostate cancer - 20668451 RAB11FIP5 chr2 73335308 73351551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP5 chr2 73335308 73351551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB11FIP5 chr2 73335501 73347500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAB11FIP5 chr2 73343509 73388324 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 73347501 73372000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 73349682 74018161 LOH Normal High-resolution SNP genotyping 21211785 ALMS1,ALMS1P,C2orf78,CCT7,DUSP11,EGR4,FBXO41,NAT8,NAT8B,NOTO,PRADC1,SMYD5,TPRKB chr2 73353045 73366010 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73354342 74090197 LOH Normal High-resolution SNP genotyping 21211785 ALMS1,ALMS1P,C2orf78,CCT7,DUSP11,EGR4,FBXO41,NAT8,NAT8B,NOTO,PRADC1,SMYD5,STAMBP,TPRKB chr2 73356494 73357523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 73357028 73357127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 73366791 73372011 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73371566 73374181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 73372001 73374500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 73373101 73391787 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73375615 73393959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 73379177 73975792 LOH Normal High-resolution SNP genotyping 21211785 ALMS1,ALMS1P,CCT7,EGR4,FBXO41,NAT8,NAT8B,NOTO,PRADC1,SMYD5,TPRKB chr2 73379320 73379382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 73394604 73408251 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73401975 73402070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 73414952 73415020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73420964 73421035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73429721 73432265 Gain and loss Pancreatic cancer SNP array 17952125 NOTO chr2 73437467 73437529 Gain and loss Pancreatic cancer SNP array 17952125 NOTO chr2 73450655 73451528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD5 chr2 73466394 73690554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALMS1,CCT7,EGR4,FBXO41 chr2 73466394 73690554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALMS1,CCT7,EGR4,FBXO41 chr2 73507927 73526793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EGR4 chr2 73508802 73509675 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73511786 73545560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EGR4 chr2 73524541 73748701 Gain and loss Pancreatic cancer SNP array 17952125 ALMS1 chr2 73561098 73561198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 73569214 73569295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 73583733 73584394 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr2 73628687 73941722 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALMS1,ALMS1P,NAT8,NAT8B chr2 73628687 73990247 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALMS1,ALMS1P,DUSP11,NAT8,NAT8B,TPRKB chr2 73638384 73655615 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ALMS1 chr2 73705521 73765426 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ALMS1 chr2 73705521 73765426 Copy number loss Normal High-resolution SNP genotyping 21211785 ALMS1 chr2 73721357 73723045 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ALMS1 chr2 73721358 73723045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALMS1 chr2 73721358 73723045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALMS1 chr2 73721506 73766184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALMS1 chr2 73721506 73766184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALMS1 chr2 73723507 73723727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALMS1 chr2 73723712 73723867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALMS1 chr2 73728650 73990247 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALMS1,ALMS1P,DUSP11,NAT8,NAT8B,TPRKB chr2 73729307 73782394 Gain Normal Birdsuite, version 1.5.2 22087296 ALMS1 chr2 73779615 73781186 Gain and loss Pancreatic cancer SNP array 17952125 ALMS1 chr2 73781143 73781975 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ALMS1 chr2 73781437 73781868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALMS1 chr2 73782394 73787674 Gain Normal Birdsuite, version 1.5.2 22087296 ALMS1 chr2 73783701 73824347 Gain and loss Pancreatic cancer SNP array 17952125 ALMS1 chr2 73783720 73783783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALMS1 chr2 73810464 73818025 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ALMS1 chr2 73810509 73818035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALMS1 chr2 73810509 73818035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALMS1 chr2 7382330 7382673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 73842841 73860730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 73842841 73860730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 73864823 73897782 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ALMS1P,NAT8 chr2 73864824 73897782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALMS1P,NAT8 chr2 73864824 73897782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALMS1P,NAT8 chr2 73868656 73876168 Gain and loss Pancreatic cancer SNP array 17952125 ALMS1P,NAT8 chr2 73900988 73918877 Gain and loss Pancreatic cancer SNP array 17952125 ALMS1P chr2 73905823 73949948 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALMS1P,NAT8B chr2 73906559 73952750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ALMS1P,NAT8B chr2 73909593 73954268 Gain or loss Breast cancer - 20668451 ALMS1P,NAT8B chr2 73909593 73954268 Gain or loss Cancer - 20668451 ALMS1P,NAT8B chr2 73909593 73954268 Gain or loss Lung cancer - 20668451 ALMS1P,NAT8B chr2 73909593 73954268 Gain or loss Ovarian cancer - 20668451 ALMS1P,NAT8B chr2 73909593 73954268 Gain or loss Pancreas cancer - 20668451 ALMS1P,NAT8B chr2 73909593 73954268 Gain or loss Prostate cancer - 20668451 ALMS1P,NAT8B chr2 73909594 73954268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALMS1P,NAT8B chr2 73909594 73954268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALMS1P,NAT8B chr2 73909654 73943519 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ALMS1P,NAT8B chr2 73916064 73945941 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAT8B chr2 73919555 73949837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAT8B chr2 73921279 73946389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAT8B chr2 73921332 73947009 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAT8B chr2 73923942 73953560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAT8B chr2 73924014 73968903 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAT8B,TPRKB chr2 73943556 73943656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 73952255 73955774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 73967741 74001665 Gain and loss Pancreatic cancer SNP array 17952125 DUSP11 chr2 73973600 74000288 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DUSP11 chr2 73973601 74000500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DUSP11 chr2 73973601 74000500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DUSP11 chr2 74005595 74005695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DUSP11 chr2 74007461 74039596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf78 chr2 74007461 74039596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf78 chr2 74031365 74031365 Copy number Prostate cancer Illumina GA II sequencer 21307934 C2orf78 chr2 74031790 74058434 Gain and loss Pancreatic cancer SNP array 17952125 C2orf78,STAMBP chr2 74039904 74040116 Gain Normal 244K array 17666407 C2orf78 chr2 74040429 74790166 LOH Normal High-resolution SNP genotyping 21211785 ACTG2,AUP1,BOLA3,BOLA3-AS1,C2orf65,C2orf78,C2orf81,CCDC142,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LOXL3,MOB1A,MOGS,MRPL53,MTHFD2,PCGF1,RTKN,SLC4A5,STAMBP,TET3,TLX2,TTC31,WBP1,WDR54 chr2 74048741 74048832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74058195 74058295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAMBP chr2 74065608 74097743 Gain and loss Pancreatic cancer SNP array 17952125 STAMBP chr2 74078575 75322521 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACTG2,AUP1,BOLA3,BOLA3-AS1,C2orf65,C2orf81,CCDC142,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,HK2,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LOXL3,MIR5000,MOB1A,MOGS,MRPL53,MTHFD2,PCGF1,POLE4,RTKN,SEMA4F,SLC4A5,STAMBP,TACR1,TET3,TLX2,TTC31,WBP1,WDR54 chr2 74083348 74188811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTG2,DGUOK,STAMBP chr2 74083348 74188811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTG2,DGUOK,STAMBP chr2 7410377 7410477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 74106887 74106984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 74106900 74106987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 74125480 74125694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTG2 chr2 74125490 74125571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACTG2 chr2 74126957 74188810 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ACTG2,DGUOK chr2 7415477 7415796 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 74177840 74812584 LOH Normal High-resolution SNP genotyping 21211785 AUP1,BOLA3,BOLA3-AS1,C2orf65,C2orf81,CCDC142,DCTN1,DCTN1-AS1,DGUOK,DOK1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LOXL3,MOB1A,MOGS,MRPL53,MTHFD2,PCGF1,RTKN,SLC4A5,TET3,TLX2,TTC31,WBP1,WDR54 chr2 74179735 74212518 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DGUOK chr2 74185942 74241350 Gain and loss Pancreatic cancer SNP array 17952125 DGUOK chr2 74215107 74216029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74215107 74216029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74216035 74228547 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 74216036 74228547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74216036 74228547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74217558 74790166 LOH Normal High-resolution SNP genotyping 21211785 AUP1,BOLA3,BOLA3-AS1,C2orf65,C2orf81,CCDC142,DCTN1,DCTN1-AS1,DOK1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LOXL3,MOB1A,MOGS,MRPL53,MTHFD2,PCGF1,RTKN,SLC4A5,TET3,TLX2,TTC31,WBP1,WDR54 chr2 74235532 74235617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 74235673 74268260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74272025 74272135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74273254 74274181 Gain and loss Pancreatic cancer SNP array 17952125 TET3 chr2 74274199 74286690 Gain and loss Pancreatic cancer SNP array 17952125 TET3 chr2 74279197 74295932 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TET3 chr2 74279198 74295933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TET3 chr2 74279198 74295933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET3 chr2 74289305 74824165 LOH Normal High-resolution SNP genotyping 21211785 AUP1,BOLA3,BOLA3-AS1,C2orf65,C2orf81,CCDC142,DCTN1,DCTN1-AS1,DOK1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LOXL3,MOB1A,MOGS,MRPL53,MTHFD2,PCGF1,RTKN,SLC4A5,TET3,TLX2,TTC31,WBP1,WDR54 chr2 74293642 74330660 Gain and loss Pancreatic cancer SNP array 17952125 TET3 chr2 74296878 74424044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BOLA3,BOLA3-AS1,MOB1A,TET3 chr2 74296878 74424044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BOLA3,BOLA3-AS1,MOB1A,TET3 chr2 74308746 74308825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TET3 chr2 74318367 74823586 LOH Normal High-resolution SNP genotyping 21211785 AUP1,BOLA3,BOLA3-AS1,C2orf65,C2orf81,CCDC142,DCTN1,DCTN1-AS1,DOK1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LBX2-AS1,LOXL3,MOB1A,MOGS,MRPL53,MTHFD2,PCGF1,RTKN,SLC4A5,TET3,TLX2,TTC31,WBP1,WDR54 chr2 74330172 74330282 Gain and loss Pancreatic cancer SNP array 17952125 TET3 chr2 74337367 74354067 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 74350392 74530649 Gain and loss Pancreatic cancer SNP array 17952125 BOLA3,BOLA3-AS1,MOB1A,MTHFD2,SLC4A5 chr2 74373700 74373780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BOLA3 chr2 74389439 74409581 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MOB1A chr2 74391579 74482924 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MOB1A,MTHFD2,SLC4A5 chr2 74391579 74674080 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C2orf81,DCTN1,DCTN1-AS1,MOB1A,MTHFD2,RTKN,SLC4A5,WDR54 chr2 74396137 74404281 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MOB1A chr2 74441789 74460983 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MTHFD2,SLC4A5 chr2 74441790 74472722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTHFD2,SLC4A5 chr2 74441790 74472722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTHFD2,SLC4A5 chr2 74458326 74458959 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SLC4A5 chr2 74469 50579433 Loss Bladder cancer array-CGH 21909424 ABCG5,ABCG8,ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALK,ALLC,APOB,ARHGEF33,ASAP2,ASXL2,ATAD2B,ATL2,ATP6V1C2,ATP6V1E2,ATRAID,BIRC6,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf70,C2orf71,C2orf91,CAD,CALM2,CAMKMT,CAPN13,CAPN14,CCDC121,CCDC164,CCDC75,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CGREF1,CIB4,CLIP4,CMPK2,COLEC11,COX7A2L,CPSF3,CRIM1,CRIPT,CYP1B1,CYP1B1-AS1,CYS1,DDX1,DHX57,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPY30,DPYSL5,DTNB,DYNC2LI1,E2F6,EFR3B,EHD3,EIF2AK2,EIF2B4,EMILIN1,EML4,EPAS1,EPCAM,EPT1,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FBXO11,FEZ2,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FOXN2,FSHR,FTH1P3,GALM,GALNT14,GCKR,GDF7,GEMIN6,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HNRPLL,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LBH,LCLAT1,LHCGR,LINC00299,LINC00486,LINC00487,LINC00570,LOC100129726,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC375196,LOC388942,LOC388948,LOC400940,LOC645949,LOC727982,LOC728730,LOC728819,LOC730811,LPIN1,LRPPRC,LTBP1,MAP4K3,MAPRE3,MATN3,MBOAT2,MCFD2,MEMO1,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MIR4765,MIR548AD,MIR558,MIR559,MORN2,MPV17,MRPL33,MSGN1,MSH2,MSH6,MTA3,MYADML,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NLRC4,NOL10,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,OXER1,PDIA6,PFN4,PIGF,PKDCC,PLB1,PLEKHH2,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PQLC3,PREB,PREPL,PRKCE,PRKD3,PTRHD1,PUM2,PXDN,QPCT,RAB10,RAD51AP2,RASGRP3,RBKS,RDH14,RHOB,RHOQ,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SIX2,SIX3,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOCS5,SOS1,SOX11,SPAST,SPDYA,SRBD1,SRD5A2,SRSF7,STON1,STON1-GTF2A1L,STRN,SULT6B1,SUPT7L,TAF1B,TCF23,THADA,THUMPD2,TMEM178A,TMEM18,TMEM214,TMEM247,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC27,TTC32,TTC7A,UBXN2A,UCN,UNQ6975,VIT,VSNL1,WDR35,WDR43,XDH,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513 chr2 74485736 74485813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A5 chr2 74488861 74489539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74494501 74641500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf81,DCTN1,DCTN1-AS1,SLC4A5 chr2 74494964 74498352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74502364 74506389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74502364 74506389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74502392 74506390 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SLC4A5 chr2 74503299 74519194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC4A5 chr2 74506497 74522568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74506497 74522568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74535737 74538581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74535737 74538581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74539035 74541526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74539035 74541526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74539084 74541518 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 SLC4A5 chr2 74539520 74620052 Gain aortic dissecting aneurysms Array-CGH 22263138 DCTN1,DCTN1-AS1,SLC4A5 chr2 74541693 74546045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74541693 74546045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74546642 74552293 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A5 chr2 74552621 74553435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74552621 74553435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74553052 74554673 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A5 chr2 74554592 74554689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A5 chr2 74554737 74563631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74554737 74563631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74560512 74564536 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A5 chr2 74563707 74575199 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SLC4A5 chr2 74563718 74575194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74563718 74575194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC4A5 chr2 74564643 74580697 Gain and loss Pancreatic cancer SNP array 17952125 SLC4A5 chr2 74578153 74583951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74578153 74583951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74583251 74585700 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 74585677 74588329 Gain or loss Breast cancer - 20668451 DCTN1 chr2 74585677 74588329 Gain or loss Cancer - 20668451 DCTN1 chr2 74585677 74588329 Gain or loss Lung cancer - 20668451 DCTN1 chr2 74585677 74588329 Gain or loss Ovarian cancer - 20668451 DCTN1 chr2 74585677 74588329 Gain or loss Pancreas cancer - 20668451 DCTN1 chr2 74585677 74588329 Gain or loss Prostate cancer - 20668451 DCTN1 chr2 74585700 74588329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCTN1 chr2 74585700 74588329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTN1 chr2 74585823 74585970 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 74586052 74586183 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 74593888 74596726 Gain and loss Pancreatic cancer SNP array 17952125 DCTN1 chr2 74595119 74597396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCTN1 chr2 74595119 74597396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTN1 chr2 74597232 74599665 Gain and loss Pancreatic cancer SNP array 17952125 DCTN1 chr2 74598766 74606971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCTN1 chr2 74598766 74606971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTN1 chr2 74599859 74604173 Gain and loss Pancreatic cancer SNP array 17952125 DCTN1 chr2 74607282 74610482 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DCTN1 chr2 74607284 74610482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCTN1 chr2 74607284 74610482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTN1 chr2 74610039 74614191 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DCTN1,DCTN1-AS1 chr2 74610040 74614191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCTN1,DCTN1-AS1 chr2 74610040 74614191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTN1,DCTN1-AS1 chr2 74610768 74621778 Gain and loss Pancreatic cancer SNP array 17952125 DCTN1,DCTN1-AS1 chr2 74613239 74634596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCTN1,DCTN1-AS1 chr2 74613239 74634596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTN1,DCTN1-AS1 chr2 74613453 74634570 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 DCTN1,DCTN1-AS1 chr2 74621855 74633339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 74629661 74638181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74629661 74638181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74635367 74638171 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 74636300 74642098 Gain and loss Pancreatic cancer SNP array 17952125 C2orf81 chr2 74638517 74728672 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C2orf81,CCDC142,INO80B,INO80B-WBP1,LBX2,MOGS,MRPL53,RTKN,TTC31,WBP1,WDR54 chr2 74638527 74728672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf81,CCDC142,INO80B,INO80B-WBP1,LBX2,MOGS,MRPL53,RTKN,TTC31,WBP1,WDR54 chr2 74638527 74728672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf81,CCDC142,INO80B,INO80B-WBP1,LBX2,MOGS,MRPL53,RTKN,TTC31,WBP1,WDR54 chr2 74641399 74643847 Gain and loss Pancreatic cancer SNP array 17952125 C2orf81 chr2 74643826 74647362 Gain and loss Pancreatic cancer SNP array 17952125 C2orf81 chr2 74652373 74656403 Gain and loss Pancreatic cancer SNP array 17952125 RTKN,WDR54 chr2 74656915 74665063 Gain and loss Pancreatic cancer SNP array 17952125 RTKN chr2 74665431 74668542 Gain and loss Pancreatic cancer SNP array 17952125 RTKN chr2 74668187 74672098 Gain and loss Pancreatic cancer SNP array 17952125 RTKN chr2 74671601 74692717 Gain and loss Pancreatic cancer SNP array 17952125 INO80B,INO80B-WBP1,MOGS,WBP1 chr2 74687290 74687390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INO80B-WBP1,WBP1 chr2 74692942 74696328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 74697498 74787089 Gain and loss Pancreatic cancer SNP array 17952125 AUP1,C2orf65,CCDC142,DOK1,DQX1,HTRA2,LBX2,LBX2-AS1,LOXL3,MRPL53,PCGF1,TLX2,TTC31 chr2 7473130 7473230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 74734901 74762693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AUP1,DQX1,HTRA2,LOXL3,TLX2 chr2 74734901 74762693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AUP1,DQX1,HTRA2,LOXL3,TLX2 chr2 74761659 74761925 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOXL3 chr2 74762068 74762295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOXL3 chr2 74788980 74789080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C2orf65 chr2 74793034 74820837 Gain and loss Pancreatic cancer SNP array 17952125 C2orf65 chr2 74793048 74820840 Gain and loss Pancreatic cancer SNP array 17952125 C2orf65 chr2 74913289 74973989 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 74913290 74973994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74913290 74973994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 74928440 76284449 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM176A,GCFC2,HK2,MIR5000,MRPL19,POLE4,TACR1 chr2 74971437 75032129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 7497763 7497848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75000000 83300000 Deletion Cancer Array CGH 17440070 CTNNA2,FAM176A,GCFC2,HK2,LOC1720,LRRTM1,LRRTM4,MIR4264,MIR5000,MRPL19,POLE4,REG1A,REG1B,REG1P,REG3A,REG3G,SNAR-H,TACR1 chr2 75000000 83300000 Deletion Mental retardation array CGH 17124404 CTNNA2,FAM176A,GCFC2,HK2,LOC1720,LRRTM1,LRRTM4,MIR4264,MIR5000,MRPL19,POLE4,REG1A,REG1B,REG1P,REG3A,REG3G,SNAR-H,TACR1 chr2 75000000 83300000 Gain Basal cell lymphoma Array CGH 19029149 CTNNA2,FAM176A,GCFC2,HK2,LOC1720,LRRTM1,LRRTM4,MIR4264,MIR5000,MRPL19,POLE4,REG1A,REG1B,REG1P,REG3A,REG3G,SNAR-H,TACR1 chr2 75000000 83300000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 CTNNA2,FAM176A,GCFC2,HK2,LOC1720,LRRTM1,LRRTM4,MIR4264,MIR5000,MRPL19,POLE4,REG1A,REG1B,REG1P,REG3A,REG3G,SNAR-H,TACR1 chr2 75008874 75013659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75008874 75013659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75039282 75050367 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 75039283 75050366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75039283 75050366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75069024 75069099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HK2 chr2 75097430 75108513 Gain and loss Pancreatic cancer SNP array 17952125 HK2 chr2 75097522 75097622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HK2 chr2 75104585 75104677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HK2 chr2 75126426 75126526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75129737 75279781 Gain or loss Breast cancer - 20668451 POLE4,TACR1 chr2 75129737 75279781 Gain or loss Cancer - 20668451 POLE4,TACR1 chr2 75129737 75279781 Gain or loss Lung cancer - 20668451 POLE4,TACR1 chr2 75129737 75279781 Gain or loss Ovarian cancer - 20668451 POLE4,TACR1 chr2 75129737 75279781 Gain or loss Pancreas cancer - 20668451 POLE4,TACR1 chr2 75129737 75279781 Gain or loss Prostate cancer - 20668451 POLE4,TACR1 chr2 75129951 75280122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLE4,TACR1 chr2 75129951 75280122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLE4,TACR1 chr2 75131671 75280153 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 POLE4,TACR1 chr2 75187885 75337928 Gain and loss Pancreatic cancer SNP array 17952125 MIR5000,POLE4,TACR1 chr2 752424 752509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 752519 757928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 75255854 75255954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75280001 75281500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TACR1 chr2 75283205 75296152 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 TACR1 chr2 75365286 75398326 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TACR1 chr2 75380906 75380981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TACR1 chr2 75387652 75387902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TACR1 chr2 75387892 75388095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TACR1 chr2 75400000 242951149 Copy number Breast cancer BAC array 16272173 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANAPC1P1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATOH8,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf68,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPG,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CD8A,CD8B,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHMP3,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CTNNA2,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH6,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF2AK3,EIF4E2,EIF5B,ELMOD3,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM176A,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FOXI3,FRZB,FSIP2,FUNDC2P2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCFC2,GCG,GCSHP3,GGCX,GGT8P,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GNLY,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMMT,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCMF1,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KDM3A,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KRCC1,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100630918,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC1720,LOC200726,LOC200772,LOC254128,LOC284950,LOC284998,LOC285000,LOC285033,LOC285074,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LOC90784,LONRF2,LRP1B,LRP2,LRRFIP1,LRRTM1,LRRTM4,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MAT2A,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4264,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4779,MIR4780,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL19,MRPL30,MRPL35,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PLGLB1,PLGLB2,PMS1,PNKD,POLR1A,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTCD3,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,RESP18,RETSAT,REV1,RFTN2,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RMND5A,RND3,RNF103,RNF103-CHMP3,RNF149,RNF181,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPIA,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SFTPB,SGOL2,SGPP2,SH2D6,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SMYD1,SNAR-H,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNORD94,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST3GAL5,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SUCLG1,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TACR1,TANC1,TANK,TBC1D8,TBR1,TCF7L1,TEKT4,TEX37,TFCP2L1,TFPI,TGFBRAP1,TGOLN2,THAP4,THNSL2,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM150A,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TMSB10,TNFAIP6,TNP1,TNS1,TRABD2A,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP39,USP40,UXS1,VAMP5,VAMP8,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 75400000 83700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CTNNA2,FAM176A,GCFC2,LOC1720,LRRTM1,LRRTM4,MIR4264,MRPL19,REG1A,REG1B,REG1P,REG3A,REG3G,SNAR-H,TACR1 chr2 75400000 83700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CTNNA2,FAM176A,GCFC2,LOC1720,LRRTM1,LRRTM4,MIR4264,MRPL19,REG1A,REG1B,REG1P,REG3A,REG3G,SNAR-H,TACR1 chr2 75400000 83700000 Loss Myxofibrosarcoma Array CGH 16751306 CTNNA2,FAM176A,GCFC2,LOC1720,LRRTM1,LRRTM4,MIR4264,MRPL19,REG1A,REG1B,REG1P,REG3A,REG3G,SNAR-H,TACR1 chr2 75437695 75437772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75455966 75456066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75487743 75487843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75499481 75499583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75557628 75557730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 75572951 75650356 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 75572952 75650356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75572952 75650356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75582776 75614582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 75601060 75924478 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM176A,GCFC2,MRPL19 chr2 75601060 75924478 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM176A,GCFC2,MRPL19 chr2 75621606 75746345 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM176A chr2 7562336 7562455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506274 chr2 75631099 75708503 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 75635042 75635136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75639588 75639688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75656867 75657188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 75671997 75760859 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 FAM176A chr2 75674503 75743068 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM176A chr2 75674503 75743068 Gain Non-syndromic sensorineural hearing loss 610K,Agilent24M 19587683 FAM176A chr2 75708587 75708801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75708592 75708802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75715775 75715876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 75727416 75742842 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM176A chr2 75727417 75751387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM176A chr2 75727417 75751387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM176A chr2 75742802 75791830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM176A chr2 75742802 75791830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM176A chr2 75743025 75743307 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM176A chr2 75743257 75770598 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM176A chr2 75743341 75791619 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM176A chr2 75748443 75770118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM176A chr2 75766739 75766949 Gain and loss Pancreatic cancer SNP array 17952125 FAM176A chr2 75773922 75774023 Gain and loss Pancreatic cancer SNP array 17952125 FAM176A chr2 7577647 7577838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100506274 chr2 75785567 75794512 Gain and loss Pancreatic cancer SNP array 17952125 FAM176A chr2 75786150 75786218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM176A chr2 75800949 75854444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 75850545 75850645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75898346 75898446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCFC2 chr2 75908 76008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75957689 75957981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 75961688 75974233 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 75975403 75978632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 75982204 76536561 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 75982974 75990508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 75992184 75992284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 75994557 75994952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 76013223 76014243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 7615240 7615325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 76153116 76153216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 76190454 76191597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 76196590 76640686 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 76342592 76489188 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 7634423 7634530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 7634423 7634546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 76377901 76384300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 76380022 76382416 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr2 76410561 76410793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 76420224 76420324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 76453575 76617009 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 76525713 76526044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 76583863 76584191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 76583951 76584191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 76604280 76627967 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 76625101 76630800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 76627061 76628948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 76640353 77999930 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRRTM4 chr2 76641719 76641819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 7667570 7667677 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 76676127 76676294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 76698266 76699011 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 76698302 76698967 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 76713806 77564580 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 LRRTM4 chr2 76725107 76725207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 76734274 76734441 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 76742919 77478908 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRRTM4 chr2 76782603 76809810 Loss Autism LR 20531469 NOT_FOUND chr2 76785749 76785849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 76828353 77603010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRTM4 chr2 76828353 77603010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRTM4 chr2 76834623 76834682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 76846240 76980824 Copy number loss Normal High-resolution SNP genotyping 21211785 LRRTM4 chr2 76847395 76861218 Loss Normal 244K array 17666407 NOT_FOUND chr2 76853552 76853638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 76911690 76911782 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 76911694 76911785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 76968526 76968604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 76988673 76988773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77013327 77013427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77043891 77043980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77049107 77049207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77050531 77050631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77117777 77266367 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LRRTM4 chr2 77137631 77137731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 7716039 7716132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 77176897 77176997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 7719000 9427000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ASAP2,ID2,KIDINS220,LINC00299,LOC339788,MBOAT2 chr2 77217348 77218145 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRTM4 chr2 77251545 77295922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRTM4 chr2 77270791 77270891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77274607 77274707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77300718 77333567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRTM4 chr2 77348390 77348444 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRTM4 chr2 77352228 77352328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 7740001 7740089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 77440969 77441069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 7745827 7745966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 77472841 77775533 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LRRTM4 chr2 77511147 77512499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRTM4 chr2 77558468 77558568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77564580 78399933 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 LRRTM4,SNAR-H chr2 77594480 77629473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRTM4 chr2 77606379 77606411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77615603 77615703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRTM4 chr2 77657093 77658649 Gain and loss Pancreatic cancer SNP array 17952125 LRRTM4 chr2 7766574 7766724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 77683206 77692536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRTM4 chr2 77749101 77749171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRTM4 chr2 77752271 77752371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 77766753 77940306 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 77807248 77807318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 77830194 77843657 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 77830194 77843966 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 77830206 77850174 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 77830276 77830599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 77840772 78013206 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 77850174 77850393 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 77888028 77979739 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 77905275 77938417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 7793227 7793365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 7794020 7794677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 77959561 78283924 Copy number Lung cancer paired-end sequencing 18438408 SNAR-H chr2 77968773 78013873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 77971399 77971871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 78014075 78331520 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SNAR-H chr2 78038044 78390176 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SNAR-H chr2 78078191 78417836 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 SNAR-H chr2 781117 812995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339822 chr2 78114911 78723776 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SNAR-H chr2 78139769 78622687 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SNAR-H chr2 78165530 78165630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78185227 79833475 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTNNA2,REG1A,REG1B,REG1P,REG3A,REG3G chr2 78226001 78227500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 78251196 78283854 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 78298134 86944306 Copy number Lung cancer paired-end sequencing 18438408 ATOH8,C2orf68,CAPG,CHMP3,CTNNA2,DNAH6,ELMOD3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,LOC100630918,LOC1720,LOC284950,LOC90784,LRRTM1,MAT2A,MIR4264,MIR4779,MRPL35,POLR1A,PTCD3,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,RETSAT,RNF103,RNF103-CHMP3,RNF181,SFTPB,SH2D6,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TGOLN2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 78354734 78354829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78393491 78393591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78399933 79351736 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 REG1A,REG1B,REG3G chr2 78411577 78411577 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 78439787 78440495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 78439825 78440533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 7846717 7846817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78493182 78622697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 78533810 78533900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 7853665 7853765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78601996 78602138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 78618088 78618163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78639495 78639627 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 78682370 78682464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 788028 801725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339822 chr2 78816733 78816814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78830153 78832286 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr2 78839844 78839944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78911131 78911466 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 78911156 78911491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 78930079 78934714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 78930135 78934798 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 78946966 79637055 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 REG1A,REG1B,REG1P,REG3A,REG3G chr2 78963081 78963186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 78963262 78963368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 78965196 78965419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78965306 78965406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 78965415 78965618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79021228 79021333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79021230 79021333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79021409 79021513 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79021409 79021515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79100000 81150000 Loss Breast cancer aCGH 21509527 CTNNA2,LRRTM1,MIR4264,REG1A,REG1B,REG1P,REG3A,REG3G chr2 79106334 79109138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79106334 79109138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79152804 79152904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79164481 79167279 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79165659 79168627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79165659 79168627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79182654 79184285 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 79183301 79197600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr2 79184286 79195607 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 NOT_FOUND chr2 79184286 79195607 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 NOT_FOUND chr2 79184286 79195607 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 79201092 79204053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79201092 79204053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79217268 79219061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79220671 79258826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 REG3G chr2 79223806 79226774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79235427 79235482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79237640 79240387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79237640 79240387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79242118 79260279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 REG3G chr2 79249913 79251214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 79259239 79262200 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79261551 79261780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 79265865 80729416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNA2,LRRTM1,MIR4264,REG1A,REG1B,REG1P,REG3A chr2 79265865 80729416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA2,LRRTM1,MIR4264,REG1A,REG1B,REG1P,REG3A chr2 79295788 79298534 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79297431 79297531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 7940175 7940633 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 79538772 79538872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79547303 79547403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79561949 79593929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 79575181 79575281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79593567 80729497 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CTNNA2,LRRTM1,MIR4264 chr2 79597867 79597967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79615815 79615915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79644330 79644430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 796586 806150 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339822 chr2 79674222 79674805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 7971573 7971673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79715830 79715930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 79717496 79717588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 79757810 81316015 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTNNA2,LRRTM1,MIR4264 chr2 79761308 79761364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 79775643 79775735 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA2 chr2 79790338 80787562 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA2,LRRTM1,MIR4264 chr2 79831792 79858786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTNNA2 chr2 79932976 80792530 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTNNA2,LRRTM1 chr2 79934690 80348223 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CTNNA2 chr2 79977281 80011820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTNNA2 chr2 7998546 7998646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 80001628 80001663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80010138 80010227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80049201 80352800 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTNNA2 chr2 80049988 80050088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80076584 80764048 LOH Normal High-resolution SNP genotyping 21211785 CTNNA2,LRRTM1 chr2 80147701 80155400 Deletion Glioma mate-paired sequence 20126413 CTNNA2 chr2 80215884 80215984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80252953 80253049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80253298 80253398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80295508 80295835 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA2 chr2 80296271 80296371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80299368 80299431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80312976 80607537 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTNNA2,LRRTM1 chr2 80312976 80754119 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CTNNA2,LRRTM1 chr2 80312976 80754119 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTNNA2,LRRTM1 chr2 80325259 80325354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA2 chr2 80363433 80363533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80382513 80384998 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 CTNNA2 chr2 80382514 80385385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNA2 chr2 80382514 80385385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA2 chr2 80383001 80384500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTNNA2 chr2 80397039 80397139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80410520 81837112 LOH Normal High-resolution SNP genotyping 21211785 CTNNA2,LRRTM1 chr2 80427141 80443176 Gain and loss Pancreatic cancer SNP array 17952125 CTNNA2 chr2 80435102 81460961 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CTNNA2,LRRTM1 chr2 80456173 80456542 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 CTNNA2 chr2 80457936 80607537 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTNNA2,LRRTM1 chr2 80457936 80754119 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTNNA2,LRRTM1 chr2 80475479 80475550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80494235 80494335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80524989 80525089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 8053090 8078648 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 LOC339788 chr2 80581230 80581330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80582147 80582247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80583982 80584082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80606550 80606640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNA2 chr2 80662826 80662926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80703875 82595829 LOH Normal High-resolution SNP genotyping 21211785 CTNNA2 chr2 80703875 84206678 LOH Normal High-resolution SNP genotyping 21211785 CTNNA2,LOC1720 chr2 80768828 80769001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80768875 80768994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80769009 80769130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80769021 80769235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80804737 82235388 LOH Normal High-resolution SNP genotyping 21211785 CTNNA2 chr2 80840964 80841048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 80848372 80848472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTNNA2 chr2 8085904 8085968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC339788 chr2 80881265 80881365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 80881618 80881718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 80887204 80887304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 80896594 80896694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 80926822 80926922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 80953744 82131736 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 80976395 80976482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 80981524 83221362 LOH Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 81016543 81101527 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 81031000 82098511 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 81031000 82131736 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 810664 814610 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 LOC339822 chr2 81071513 82716974 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 81141917 81142017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81166627 81166727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81245677 81345716 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr2 81255745 81830924 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 81275001 81277000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 81318993 81830924 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 81337823 81338410 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 81419297 81446082 Duplication Attention deficit hyperactivity disorder - 22138692 NOT_FOUND chr2 81428402 81428502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81449210 82127678 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 81449210 82547114 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr2 81455645 84420329 LOH Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 81472498 82852577 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 81491876 81491976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81530465 81530561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81576849 81576962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 81577056 81593777 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 NOT_FOUND chr2 81607116 81607420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 81624866 81625288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 81634996 81635109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 81635020 81635109 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 81650090 81650314 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 81663500 81664354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 81665611 81670329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 81665692 81669805 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 81710185 81710240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81721481 81723378 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 81887249 82937880 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 81887249 82938244 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 81913818 81913918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81922798 81922893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81966282 81966362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 81979932 81980032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 81991291 82024025 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 82002282 82032492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 82003178 82011179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 82047545 82047645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82047714 82048007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82047714 82048009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82056717 82168131 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 82069287 83461816 LOH Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 82097808 82098046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82098511 82967722 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 82098511 83611274 LOH Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 82101997 82967722 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 82105861 82106156 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82126823 82127012 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 82186965 82894516 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 82189324 82189384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 82193957 82194276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 82215780 82215887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 82239766 82239863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82295441 83005838 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr2 82297470 83221362 LOH Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 82311345 83221362 LOH Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 8231235 9165178 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ID2,KIDINS220,LINC00299,MBOAT2 chr2 82337228 82337312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82338999 83221362 LOH Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 82368248 82368348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82387702 82387803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82392577 82392651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82407391 82407488 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82407394 82407488 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82445851 82445950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82445853 82445950 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82446714 82446814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82509750 82509823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82570508 82570608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82610000 85570000 Amplification Sezary syndrome Array-based CGH 18413736 DNAH6,FUNDC2P2,KCMF1,LOC1720,RETSAT,SUCLG1,TCF7L1,TGOLN2,TMSB10,TRABD2A chr2 82610657 82610955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 82622613 84206678 LOH Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 8262744 8262814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00299 chr2 82691331 84809782 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAH6,FUNDC2P2,LOC1720,SUCLG1 chr2 82707111 82707211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82813572 82813893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 82830567 82830667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82831931 83861218 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC1720 chr2 82866310 83147178 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LOC1720 chr2 82887198 82887298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82889150 82889913 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 82896159 82896225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82896228 82896286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82896287 82896361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82898694 82898760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82899907 82899973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82899976 82900043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82901509 82901579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82914790 82915121 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 82922666 82922766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82937461 82937757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82937461 82937757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 82950432 82950577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82954306 82954372 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82954375 82954433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82954434 82954508 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82956841 82956907 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82958054 82958120 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82958123 82958190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82959656 82959726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 82965535 82965625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 82971184 84601331 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FUNDC2P2,LOC1720 chr2 82989000 83240084 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC1720 chr2 8299296 8299396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00299 chr2 82993873 82993962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83024766 83024841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83047330 83047430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83084765 83109967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC1720 chr2 8312967 8313067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00299 chr2 83145804 83145904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83160508 83876420 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 83216636 83216736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83284591 83284637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83300000 90500000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ANAPC1P1,ANKRD36BP2,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,DNAH6,EIF2AK3,ELMOD3,FABP1,FOXI3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,KRCC1,LINC00152,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4435-1,MIR4435-2,MIR4436A,MIR4779,MIR4780,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPIA,SFTPB,SH2D6,SMYD1,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TEX37,TGOLN2,THNSL2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 83328266 83328366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83357814 83357913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83425607 83425707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83454861 83454950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83532558 83532658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83582833 83582929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83595573 83595673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83657180 83657280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 83672545 83701532 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 83700000 91000000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 ANAPC1P1,ANKRD36BP2,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,DNAH6,EIF2AK3,ELMOD3,FABP1,FOXI3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,KRCC1,LINC00152,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4435-1,MIR4435-2,MIR4436A,MIR4779,MIR4780,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPIA,SFTPB,SH2D6,SMYD1,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TEX37,TGOLN2,THNSL2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 83700000 91000000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ANAPC1P1,ANKRD36BP2,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,DNAH6,EIF2AK3,ELMOD3,FABP1,FOXI3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,KRCC1,LINC00152,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4435-1,MIR4435-2,MIR4436A,MIR4779,MIR4780,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPIA,SFTPB,SH2D6,SMYD1,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TEX37,TGOLN2,THNSL2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 83700000 91000000 Amplification Normal Refference 21823210 ANAPC1P1,ANKRD36BP2,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,DNAH6,EIF2AK3,ELMOD3,FABP1,FOXI3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,KRCC1,LINC00152,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4435-1,MIR4435-2,MIR4436A,MIR4779,MIR4780,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPIA,SFTPB,SH2D6,SMYD1,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TEX37,TGOLN2,THNSL2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 83700000 91000000 Amplification Papillary thyroid carcinoma QRT-PCR 22161024 ANAPC1P1,ANKRD36BP2,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,DNAH6,EIF2AK3,ELMOD3,FABP1,FOXI3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,KRCC1,LINC00152,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4435-1,MIR4435-2,MIR4436A,MIR4779,MIR4780,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPIA,SFTPB,SH2D6,SMYD1,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TEX37,TGOLN2,THNSL2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 83700000 91000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANAPC1P1,ANKRD36BP2,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,DNAH6,EIF2AK3,ELMOD3,FABP1,FOXI3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,KRCC1,LINC00152,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4435-1,MIR4435-2,MIR4436A,MIR4779,MIR4780,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPIA,SFTPB,SH2D6,SMYD1,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TEX37,TGOLN2,THNSL2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 83700000 91000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANAPC1P1,ANKRD36BP2,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,DNAH6,EIF2AK3,ELMOD3,FABP1,FOXI3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,KRCC1,LINC00152,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4435-1,MIR4435-2,MIR4436A,MIR4779,MIR4780,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPIA,SFTPB,SH2D6,SMYD1,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TEX37,TGOLN2,THNSL2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 83700000 91000000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ANAPC1P1,ANKRD36BP2,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,DNAH6,EIF2AK3,ELMOD3,FABP1,FOXI3,FUNDC2P2,GGCX,GNLY,IMMT,KCMF1,KDM3A,KRCC1,LINC00152,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4435-1,MIR4435-2,MIR4436A,MIR4779,MIR4780,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,RPIA,SFTPB,SH2D6,SMYD1,SNORD94,ST3GAL5,SUCLG1,TCF7L1,TEX37,TGOLN2,THNSL2,TMEM150A,TMSB10,TRABD2A,USP39,VAMP5,VAMP8 chr2 83707938 84238894 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 8370859 8370959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00299 chr2 83738370 83738477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 83796517 83796624 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 83796529 83796622 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 83801683 83846745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 8387875 8415360 Gain and loss Pancreatic cancer SNP array 17952125 LINC00299 chr2 8387937 8388087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00299 chr2 83892329 84167539 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 83892329 84167539 Gain Non-syndromic sensorineural hearing loss 610K,Agilent24M 19587683 NOT_FOUND chr2 83921493 84161447 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr2 83956718 83989015 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 83964463 83964586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 84004554 84004654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 84014419 84014876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 84047337 84047772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 84291876 84324991 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 84371317 84372835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 84371317 84372835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 84380906 84381079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 84406808 85009063 LOH Normal High-resolution SNP genotyping 21211785 DNAH6,FUNDC2P2,SUCLG1 chr2 84429465 84430983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 84483911 84484011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 84504162 84540097 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FUNDC2P2 chr2 84504165 84540097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FUNDC2P2 chr2 84504165 84540097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FUNDC2P2 chr2 84562312 84598047 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 84574216 85368228 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DNAH6,KCMF1,SUCLG1,TCF7L1,TMSB10,TRABD2A chr2 84597090 84900224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH6,SUCLG1 chr2 84597090 84900224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH6,SUCLG1 chr2 84611952 84612244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 84617486 84617580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 84643112 84795200 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DNAH6,SUCLG1 chr2 84643339 84643578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 84643566 84643757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 84655237 84723636 Gain and loss Pancreatic cancer SNP array 17952125 SUCLG1 chr2 84678778 84723537 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUCLG1 chr2 84728539 84728675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 84743125 84743225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 847431 934415 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC339822 chr2 84763756 84776068 Gain and loss Pancreatic cancer SNP array 17952125 DNAH6 chr2 84772272 84772322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH6 chr2 84797089 84836617 Gain and loss Pancreatic cancer SNP array 17952125 DNAH6 chr2 84843031 84958362 Gain and loss Pancreatic cancer SNP array 17952125 DNAH6 chr2 84902285 84961880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH6 chr2 84939387 84939459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH6 chr2 84941770 84941870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH6 chr2 84942938 84943024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH6 chr2 84955165 84955722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH6 chr2 84960456 85020027 Gain and loss Pancreatic cancer SNP array 17952125 DNAH6 chr2 84974005 84974084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH6 chr2 84986274 84987310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH6 chr2 84996421 84997300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH6 chr2 84996421 84997300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH6 chr2 84997534 84997606 Gain and loss Pancreatic cancer SNP array 17952125 DNAH6 chr2 85013312 85013869 Gain and loss Pancreatic cancer SNP array 17952125 DNAH6 chr2 8503401 8503484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 85044433 85045453 Gain and loss Pancreatic cancer SNP array 17952125 DNAH6 chr2 85051727 85140106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMSB10,TRABD2A chr2 85051727 85140106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMSB10,TRABD2A chr2 85051741 85140106 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TMSB10,TRABD2A chr2 85054568 85055447 Gain and loss Pancreatic cancer SNP array 17952125 TRABD2A chr2 85072963 85072995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRABD2A chr2 85088869 85089010 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRABD2A chr2 85109905 85193106 Gain and loss Pancreatic cancer SNP array 17952125 TMSB10 chr2 851187 851287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339822 chr2 85159687 86951103 LOH Normal High-resolution SNP genotyping 21211785 ATOH8,C2orf68,CAPG,CHMP3,ELMOD3,GGCX,GNLY,IMMT,KCMF1,KDM3A,LOC100630918,LOC284950,LOC90784,MAT2A,MIR4779,MRPL35,POLR1A,PTCD3,REEP1,RETSAT,RMND5A,RNF103,RNF103-CHMP3,RNF181,SFTPB,SH2D6,SNORD94,ST3GAL5,TCF7L1,TGOLN2,TMEM150A,USP39,VAMP5,VAMP8 chr2 85159687 87195113 LOH Normal High-resolution SNP genotyping 21211785 ANAPC1P1,ATOH8,C2orf68,CAPG,CD8A,CD8B,CHMP3,ELMOD3,GGCX,GNLY,IMMT,KCMF1,KDM3A,LOC100630918,LOC284950,LOC90784,MAT2A,MIR4779,MRPL35,POLR1A,PTCD3,REEP1,RETSAT,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,SFTPB,SH2D6,SNORD94,ST3GAL5,TCF7L1,TGOLN2,TMEM150A,USP39,VAMP5,VAMP8 chr2 85180482 85180788 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 85188869 85189186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 85213501 85510000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCMF1,TCF7L1 chr2 85214244 85391016 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 KCMF1,TCF7L1 chr2 85214244 85391016 Copy number Lung cancer - 20668451 KCMF1,TCF7L1 chr2 85214244 85391016 Gain or loss Breast cancer - 20668451 KCMF1,TCF7L1 chr2 85214244 85391016 Gain or loss Cancer - 20668451 KCMF1,TCF7L1 chr2 85214244 85391016 Gain or loss Lung cancer - 20668451 KCMF1,TCF7L1 chr2 85214244 85391016 Gain or loss Ovarian cancer - 20668451 KCMF1,TCF7L1 chr2 85214244 85391016 Gain or loss Pancreas cancer - 20668451 KCMF1,TCF7L1 chr2 85214244 85391016 Gain or loss Prostate cancer - 20668451 KCMF1,TCF7L1 chr2 85214245 85391012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCMF1,TCF7L1 chr2 85214245 85391012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCMF1,TCF7L1 chr2 85218360 85218392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCMF1 chr2 852501 856400 Deletion Glioma mate-paired sequence 20126413 LOC339822 chr2 85272392 85449159 Gain and loss Pancreatic cancer SNP array 17952125 KCMF1,TCF7L1 chr2 85285560 85285666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCMF1 chr2 8534246 8534552 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 85343707 85343812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85343707 85343813 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85372617 85372953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TCF7L1 chr2 85379668 85379752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85382515 85399919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TCF7L1 chr2 85398658 85409059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85398658 85409059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85405900 85406000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCF7L1 chr2 85422732 85435166 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 TCF7L1 chr2 85422733 85435166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85422733 85435166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85435354 85472386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85435354 85472386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85448219 85448320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85448916 85449212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85448916 85449214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85456805 85467032 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L1 chr2 85471679 85471776 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L1 chr2 85475381 85491187 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TCF7L1 chr2 85475381 85494681 Copy number Lung cancer - 20668451 TCF7L1 chr2 85475381 85494681 Gain or loss Breast cancer - 20668451 TCF7L1 chr2 85475381 85494681 Gain or loss Cancer - 20668451 TCF7L1 chr2 85475381 85494681 Gain or loss Lung cancer - 20668451 TCF7L1 chr2 85475381 85494681 Gain or loss Ovarian cancer - 20668451 TCF7L1 chr2 85475381 85494681 Gain or loss Pancreas cancer - 20668451 TCF7L1 chr2 85475381 85494681 Gain or loss Prostate cancer - 20668451 TCF7L1 chr2 85475382 85499066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85475382 85499066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85480880 85493313 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L1 chr2 85493527 85530527 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L1 chr2 85499565 85517661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85499565 85517661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85506366 85506465 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L1 chr2 85506366 85506466 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L1 chr2 85507063 85507361 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L1 chr2 85510001 85519500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TCF7L1 chr2 85515141 85515253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85515428 85517663 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TCF7L1 chr2 85519501 85740000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAPG,ELMOD3,RETSAT,SH2D6,TCF7L1,TGOLN2 chr2 85523129 85523423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85523138 85523425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TCF7L1 chr2 85533549 85549478 Gain and loss Pancreatic cancer SNP array 17952125 TCF7L1,TGOLN2 chr2 85540778 85540886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85572852 85575808 Gain and loss Pancreatic cancer SNP array 17952125 RETSAT chr2 85573288 85573398 Gain and loss Pancreatic cancer SNP array 17952125 RETSAT chr2 85580697 85580759 Gain and loss Pancreatic cancer SNP array 17952125 RETSAT chr2 85581285 85581572 Gain and loss Pancreatic cancer SNP array 17952125 RETSAT chr2 85598926 85599033 Gain and loss Pancreatic cancer SNP array 17952125 ELMOD3 chr2 85598927 85599033 Gain and loss Pancreatic cancer SNP array 17952125 ELMOD3 chr2 85603691 85603778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELMOD3 chr2 85619798 85625914 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CAPG chr2 85619799 85625912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPG chr2 85619799 85625912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPG chr2 85626078 85626161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPG chr2 85629703 85642168 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CAPG chr2 85629718 85642090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPG chr2 85629718 85642090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPG chr2 85630192 85630561 Gain and loss Pancreatic cancer SNP array 17952125 CAPG chr2 85648298 85648594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 8564879 8765284 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr2 85658227 85662665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH2D6 chr2 85658227 85662665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH2D6 chr2 8566001 8718000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 85665042 85674020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85665042 85674020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85674614 85702672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 85676348 85678342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85676348 85678342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85677946 85684059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85679182 85683332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85679182 85683332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85683489 85729917 Copy number Gastric cancer Human cDNA microarrays 17229543 NOT_FOUND chr2 85683489 85729917 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 85683489 85729917 Gain or loss Cancer - 20668451 NOT_FOUND chr2 85683489 85729917 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 85683489 85729917 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 85683489 85729917 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 85683489 85729917 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 85687290 85692666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85687290 85692666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85687865 85700237 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85689307 87403965 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANAPC1P1,ATOH8,C2orf68,CD8A,CD8B,CHMP3,GGCX,GNLY,IMMT,KDM3A,LOC100630918,LOC284950,LOC285074,LOC90784,MAT2A,MIR4779,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,SFTPB,SNORD94,ST3GAL5,TMEM150A,USP39,VAMP5,VAMP8 chr2 85696726 85729917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85696726 85729917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85696793 85729917 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 85706443 85706741 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85716375 85720811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85723189 85732169 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85734515 85736360 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85737329 85741479 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85737954 85749375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85737954 85749375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85740001 85749500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 85747726 85750705 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85749501 85830000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GGCX,LOC100630918,MAT2A,RNF181,TMEM150A,USP39,VAMP5,VAMP8 chr2 85754977 85788063 Gain and loss Pancreatic cancer SNP array 17952125 GGCX,LOC100630918,MAT2A chr2 85774925 85779391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GGCX chr2 85774925 85779391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GGCX chr2 85792659 85792883 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 85796099 85806970 Gain and loss Pancreatic cancer SNP array 17952125 VAMP8 chr2 85806436 85899917 Amplification Glioblastoma multiforme Array CGH 19115005 C2orf68,RNF181,SFTPB,TMEM150A,USP39,VAMP5,VAMP8 chr2 85808814 85808971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VAMP8 chr2 85811602 85840925 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C2orf68,RNF181,TMEM150A,USP39,VAMP5 chr2 85812058 87195113 LOH Normal High-resolution SNP genotyping 21211785 ANAPC1P1,ATOH8,C2orf68,CD8A,CD8B,CHMP3,GNLY,IMMT,KDM3A,LOC284950,LOC90784,MIR4779,MRPL35,POLR1A,PTCD3,REEP1,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,RNF181,SFTPB,SNORD94,ST3GAL5,TMEM150A,USP39,VAMP5 chr2 85830001 85877500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C2orf68,USP39 chr2 85833072 85837538 Gain and loss Pancreatic cancer SNP array 17952125 C2orf68,USP39 chr2 85834528 85868696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf68,USP39 chr2 85834528 85868696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf68,USP39 chr2 85866919 85867118 Gain and loss Pancreatic cancer SNP array 17952125 USP39 chr2 85867007 85867118 Gain and loss Pancreatic cancer SNP array 17952125 USP39 chr2 85892675 85926843 Gain and loss Pancreatic cancer SNP array 17952125 GNLY,SFTPB chr2 85898109 85898185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 85901094 85901238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 85919778 85969668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNLY chr2 85919778 85969668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNLY chr2 85931989 86352913 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATOH8,LOC284950,LOC90784,POLR1A,PTCD3,ST3GAL5 chr2 85955324 85955424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 85959241 85959385 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 85977929 86027795 Gain and loss Pancreatic cancer SNP array 17952125 ATOH8 chr2 86006455 86006552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATOH8 chr2 86071614 86160853 Gain Stenocardia MACArray Karyo 10K BAC-chips 21860640 ST3GAL5 chr2 86071614 86160853 Gain Vasospasm MACArray Karyo 10K BAC-chips 21860640 ST3GAL5 chr2 86106962 86186789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL5 chr2 86106962 86186789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST3GAL5 chr2 86107063 86107354 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 ST3GAL5 chr2 86110920 88184608 LOH Normal High-resolution SNP genotyping 21211785 ANAPC1P1,CD8A,CD8B,CHMP3,IMMT,KDM3A,LINC00152,LOC285074,LOC90784,MIR4435-1,MIR4435-2,MIR4779,MRPL35,PLGLB1,PLGLB2,POLR1A,PTCD3,REEP1,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3,SNORD94,ST3GAL5 chr2 86129718 86129803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 86136449 86363736 Duplication Schizophrenia NimbleGen HD2 platform 21346763 LOC90784,POLR1A,PTCD3,SNORD94 chr2 86145907 86418710 Gain Autism Exome sequencing and CGH 22495309 IMMT,LOC90784,POLR1A,PTCD3,SNORD94 chr2 86165205 86244557 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 86168299 86171943 Loss Normal 244K array 17666407 NOT_FOUND chr2 86177166 86177266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 86186815 86222791 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 86186849 86222791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 86186849 86222791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 86195566 86890496 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-347K arrays 21546498 CHMP3,IMMT,KDM3A,LOC90784,MIR4779,MRPL35,POLR1A,PTCD3,REEP1,RNF103,RNF103-CHMP3,SNORD94 chr2 86214749 86214849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 86216504 86216640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 86224566 86276404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC90784,POLR1A chr2 86224566 86276404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC90784,POLR1A chr2 86240590 86240700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 86244996 86280938 Gain and loss Pancreatic cancer SNP array 17952125 LOC90784,POLR1A chr2 86256632 86256732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLR1A chr2 86269902 86270002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLR1A chr2 86274651 86274787 Gain and loss Pancreatic cancer SNP array 17952125 POLR1A chr2 86280066 86293988 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 POLR1A chr2 86280091 86294372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLR1A chr2 86280091 86294372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLR1A chr2 86282721 86334255 Gain and loss Pancreatic cancer SNP array 17952125 POLR1A,PTCD3 chr2 86294633 86418288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IMMT,POLR1A,PTCD3,SNORD94 chr2 86294633 86418288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IMMT,POLR1A,PTCD3,SNORD94 chr2 86298738 86298846 Gain and loss Pancreatic cancer SNP array 17952125 POLR1A chr2 86298739 86298847 Gain and loss Pancreatic cancer SNP array 17952125 POLR1A chr2 86307029 86307090 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 POLR1A chr2 86315933 86316033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLR1A chr2 86338238 86351627 Gain and loss Pancreatic cancer SNP array 17952125 PTCD3 chr2 86352780 86476435 Gain and loss Pancreatic cancer SNP array 17952125 IMMT,MIR4779,MRPL35,PTCD3,REEP1,SNORD94 chr2 86427696 86427829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPL35 chr2 86485842 86485976 Gain and loss Pancreatic cancer SNP array 17952125 REEP1 chr2 86485842 86485977 Gain and loss Pancreatic cancer SNP array 17952125 REEP1 chr2 86521435 86573350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 REEP1 chr2 86521435 86573350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 REEP1 chr2 86522094 86573349 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 REEP1 chr2 86537386 86537622 Loss Autism 1M Ailent CGH whole-genome array 21865298 REEP1 chr2 86580101 86631497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 86584064 86801756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHMP3,KDM3A,RNF103-CHMP3 chr2 86584064 86801756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHMP3,KDM3A,RNF103-CHMP3 chr2 86595838 86595942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 86606114 86606214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 8660663 8660940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 86619452 86652961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 86643309 86702176 Gain and loss Pancreatic cancer SNP array 17952125 KDM3A chr2 86653985 86654087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 86653985 86654089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 86657417 86657517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 86685596 86719376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KDM3A chr2 86715361 86715461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KDM3A chr2 8671657 8671757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 8673641 8673741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 86739011 86739111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHMP3,RNF103-CHMP3 chr2 86742175 86761667 Gain and loss Pancreatic cancer SNP array 17952125 CHMP3,RNF103-CHMP3 chr2 86755882 86755957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHMP3,RNF103-CHMP3 chr2 8675722 8675798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 86778900 110050700 Gain Prostate cancer Array CGH 18632612 ACTR1B,ACTR3BP2,ADRA2B,AFF3,ANAPC1P1,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ARID5A,ASTL,C2orf15,C2orf29,C2orf40,C2orf49,CCDC138,CD8A,CD8B,CHMP3,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EDAR,EIF2AK3,EIF5B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,FHL2,FOXI3,GCC2,GGT8P,GPAT2,GPR45,IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,KRCC1,LIMS1,LINC00152,LIPT1,LMAN2L,LOC100287010,LOC100506123,LOC100506421,LOC150568,LOC284998,LOC285000,LOC285033,LOC285074,LOC442028,LOC654342,LOC728537,LOC729121,LOC90499,LONRF2,LYG1,LYG2,MAL,MAP4K4,MFSD9,MGAT4A,MIR3127,MIR4265,MIR4266,MIR4435-1,MIR4435-2,MIR4436A,MIR4772,MIR4780,MIR5696,MITD1,MRPL30,MRPS5,MRPS9,NCAPH,NCK2,NEURL3,NMS,NPAS2,PDCL3,PLGLA,PLGLB1,PLGLB2,POU3F3,PROM2,RANBP2,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RMND5A,RNF103,RNF103-CHMP3,RNF149,RPIA,RPL31,SEMA4C,SH3RF3,SH3RF3-AS1,SLC5A7,SLC9A2,SLC9A4,SMYD1,SNORD89,SNRNP200,ST6GAL2,STARD7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TEKT4,TEX37,TGFBRAP1,THNSL2,TMEM127,TMEM131,TMEM182,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,UXS1,VWA3B,ZAP70,ZNF2,ZNF514 chr2 86800948 86855943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF103,RNF103-CHMP3 chr2 86800948 86855943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF103,RNF103-CHMP3 chr2 86802346 87191468 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANAPC1P1,CD8A,CD8B,RGPD1,RGPD2,RMND5A,RNF103,RNF103-CHMP3 chr2 86825725 87027632 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 CD8A,RMND5A,RNF103,RNF103-CHMP3 chr2 86855191 86855461 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RNF103-CHMP3 chr2 86859142 86914090 Gain and loss Pancreatic cancer SNP array 17952125 RNF103-CHMP3 chr2 86865240 86889030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF103-CHMP3 chr2 86865240 86889030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF103-CHMP3 chr2 86872476 86872576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF103-CHMP3 chr2 86895973 86942558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF103-CHMP3 chr2 86895973 86942558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF103-CHMP3 chr2 86910207 88098267 Substitutions and indels small cell lung cancer array-CGH 20016488 ANAPC1P1,CD8A,CD8B,LINC00152,LOC285074,MIR4435-1,MIR4435-2,PLGLB1,PLGLB2,RGPD1,RGPD2,RMND5A,RNF103-CHMP3 chr2 86916081 86916161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF103-CHMP3 chr2 86923392 86929725 Gain and loss Pancreatic cancer SNP array 17952125 RNF103-CHMP3 chr2 86951103 87195113 Copy number loss Normal High-resolution SNP genotyping 21211785 ANAPC1P1,CD8A,CD8B,RGPD1,RGPD2,RMND5A chr2 86951103 87344195 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANAPC1P1,CD8A,CD8B,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2,RMND5A chr2 86954120 87000696 Gain and loss Pancreatic cancer SNP array 17952125 RMND5A chr2 86964401 86967017 Gain and loss Pancreatic cancer SNP array 17952125 RMND5A chr2 86972000 87006000 Duplication Non-syndromic sensorineural hearing loss References 19212409 RMND5A chr2 86979761 87741703 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANAPC1P1,CD8A,CD8B,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2,RMND5A chr2 86982714 87962359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANAPC1P1,CD8A,CD8B,LINC00152,LOC285074,MIR4435-1,MIR4435-2,PLGLB1,PLGLB2,RGPD1,RGPD2,RMND5A chr2 86985320 86985420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RMND5A chr2 86987206 86998788 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RMND5A chr2 86988587 87094615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC1P1,CD8A,CD8B,RMND5A chr2 87002059 87002129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RMND5A chr2 87010112 87010354 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 87012452 87012546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD8A chr2 87033773 87236988 Loss Normal 244K array 17666407 ANAPC1P1,CD8A,CD8B,RGPD1,RGPD2 chr2 87043358 87063267 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD8B chr2 87067570 87881342 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANAPC1P1,CD8B,LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 8707770 8707870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 87081018 87096747 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC1P1,CD8B chr2 87083193 87102486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANAPC1P1,CD8B chr2 87083193 87102486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC1P1,CD8B chr2 87103995 87299456 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANAPC1P1,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87103995 87669386 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANAPC1P1,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87104007 87191480 Gain Normal Birdsuite, version 1.5.2 22087296 ANAPC1P1,RGPD1,RGPD2 chr2 87104007 87833445 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANAPC1P1,LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87106500 87881342 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANAPC1P1,LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87110524 87110661 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC1P1 chr2 87115071 87349098 Copy number Lung cancer paired-end sequencing 18438408 ANAPC1P1,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87141341 87160633 Gain and loss Pancreatic cancer SNP array 17952125 RGPD1,RGPD2 chr2 87157420 87355460 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87157420 87446513 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87157420 87881342 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87157420 87881342 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87175553 87741703 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 8718001 8743500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 87191480 87227404 Gain or loss Normal Birdsuite, version 1.5.2 22087296 RGPD1,RGPD2 chr2 87191480 87777487 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87193084 87193155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD1,RGPD2 chr2 87195113 87310757 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87195113 87344195 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87195113 87380421 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87195113 87662249 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87195113 87724652 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87195113 87724652 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87195113 87784800 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87195113 87784800 Copy number gain Normal High-resolution SNP genotyping 21211785 LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87198237 87741703 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87198695 87881342 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87214683 87326171 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87227392 87337513 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87227392 87349559 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87227392 87741703 Duplication Normal Affymetrix 6.0 microarrays 20967226 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87227392 87805770 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87227392 87942390 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LINC00152,LOC285074,MIR4435-1,MIR4435-2,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87227404 87267503 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87227404 87755578 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LINC00152,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87228925 88075528 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LINC00152,LOC285074,MIR4435-1,MIR4435-2,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87228925 88075528 Copy number loss Normal High-resolution SNP genotyping 21211785 LINC00152,LOC285074,MIR4435-1,MIR4435-2,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 87230120 87741703 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 chr2 8723321 8723405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 87251231 87251302 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 87253693 87277489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC285074 chr2 87260721 112358212 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ACOXL,ACTR1B,ACTR3BP2,ADRA2B,AFF3,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ARID5A,ASTL,BCL2L11,BUB1,C2orf15,C2orf29,C2orf40,C2orf49,CCDC138,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EDAR,EIF2AK3,EIF5B,FABP1,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,FHL2,FOXI3,GCC2,GGT8P,GPAT2,GPR45,IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,KRCC1,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00152,LIPT1,LMAN2L,LOC100287010,LOC100288570,LOC100506123,LOC100506421,LOC100507334,LOC150568,LOC151009,LOC284998,LOC285000,LOC285033,LOC285074,LOC440894,LOC440895,LOC442028,LOC541471,LOC654342,LOC728537,LOC729121,LOC90499,LONRF2,LYG1,LYG2,MAL,MALL,MAP4K4,MFSD9,MGAT4A,MIR3127,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4772,MIR4780,MIR5696,MITD1,MRPL30,MRPS5,MRPS9,NCAPH,NCK2,NEURL3,NMS,NPAS2,NPHP1,PDCL3,PLGLA,PLGLB1,PLGLB2,POU3F3,PROM2,RANBP2,REV1,RFX8,RGPD1,RGPD2,RGPD3,RGPD4,RGPD5,RGPD6,RNF149,RPIA,RPL31,SEMA4C,SEPT10,SH3RF3,SH3RF3-AS1,SLC5A7,SLC9A2,SLC9A4,SMYD1,SNORD89,SNRNP200,SOWAHC,ST6GAL2,STARD7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TEKT4,TEX37,TGFBRAP1,THNSL2,TMEM127,TMEM131,TMEM182,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,UXS1,VWA3B,ZAP70,ZNF2,ZNF514 chr2 87267503 87273732 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC285074 chr2 87273732 87295900 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LOC285074 chr2 87295900 87333972 Gain Normal Birdsuite, version 1.5.2 22087296 LOC285074 chr2 87302219 87741703 Deletion Normal Affymetrix 6.0 microarrays 20967226 LOC285074 chr2 87310757 87380421 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 8732137 9812469 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM17,ASAP2,CPSF3,IAH1,ID2,ITGB1BP1,KIDINS220,MBOAT2,YWHAQ chr2 87333972 87337363 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87337351 87568251 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 87337351 87639616 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 87337363 87367889 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 8736426 8742034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 8736426 8742034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87367889 87367890 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87367890 87376453 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 8736791 8742034 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 87371301 88563579 Copy number Normal Quantitative Real-Time PCR 17666543 FABP1,KRCC1,LINC00152,MIR4435-1,MIR4435-2,MIR4780,PLGLB1,PLGLB2,RGPD1,RGPD2,SMYD1,THNSL2 chr2 87376453 87376454 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87376454 87408823 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87402549 87805770 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00152 chr2 87408823 87408824 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87408824 87411772 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87411772 87411773 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87411773 87518410 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87420697 87481497 Gain Non-syndromic sensorineural hearing loss BAC end sequencing 19587683 NOT_FOUND chr2 87428555 87583439 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 87449867 87450143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87477292 87477853 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 87487001 87494750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 87492825 87499957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87494751 87500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 87500501 87512250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 87509167 87511933 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 87512251 87825500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00152 chr2 87512304 87743128 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr2 87518410 87556284 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87526011 87527083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87536002 87687439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87536002 87687439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87536088 87602143 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr2 87536124 87602139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87540174 87540735 Gain Normal BAC array 16365383 NOT_FOUND chr2 87541447 87549711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87543732 87572664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87548604 89912849 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-323K arrays 21546498 ANKRD36BP2,EIF2AK3,FABP1,FOXI3,KRCC1,LINC00152,MIR4435-1,MIR4435-2,MIR4436A,MIR4780,PLGLB1,PLGLB2,RGPD1,RGPD2,RPIA,SMYD1,TEX37,THNSL2 chr2 87549051 87764071 Copy number gain Normal High-resolution SNP genotyping 21211785 LINC00152 chr2 87549450 87603073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87556284 87581115 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87556647 87574283 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87559747 87604890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87562491 87567476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87564360 87585099 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87565111 87567687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87581115 87600932 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87592416 87805770 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00152 chr2 87594215 87660286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 87595428 88961243 Mosaic loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 EIF2AK3,FABP1,FOXI3,KRCC1,LINC00152,MIR4435-1,MIR4435-2,MIR4780,PLGLB1,PLGLB2,RGPD1,RGPD2,SMYD1,TEX37,THNSL2 chr2 87600932 87600933 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87600933 87609093 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 87600933 87609093 Deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 NOT_FOUND chr2 87600933 87609093 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87609093 87609094 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87609094 87622666 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87610879 87844650 Gain Normal 244K array 17666407 LINC00152 chr2 876138 876221 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 87622666 87650383 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87644232 87760899 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 LINC00152 chr2 87645526 87652408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 87646457 87647697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87650371 87805770 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00152 chr2 87650383 87659520 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 87659520 87755578 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LINC00152 chr2 87659623 87881342 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00152 chr2 87689165 87693016 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr2 8772711 8775179 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 87755578 87777487 Gain Normal Birdsuite, version 1.5.2 22087296 LINC00152 chr2 87764071 88482847 LOH Normal High-resolution SNP genotyping 21211785 FABP1,KRCC1,LINC00152,MIR4435-1,MIR4435-2,MIR4780,PLGLB1,PLGLB2,RGPD1,RGPD2,SMYD1,THNSL2 chr2 87765094 87765128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00152 chr2 87777487 87805782 Gain Normal Birdsuite, version 1.5.2 22087296 LINC00152 chr2 87828721 87840110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87828721 87840110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87828724 87840109 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 87836589 87906586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87836589 87906586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 8786511 8895181 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ID2,KIDINS220 chr2 8786511 8895181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ID2,KIDINS220 chr2 8786511 8895181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ID2,KIDINS220 chr2 87886866 87906157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 87905524 87905574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 87936822 87936959 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 8794301 8794390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 87950727 87964510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 87963671 87963721 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 8799394 8799494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 87994044 95867206 Copy number Lung cancer paired-end sequencing 18438408 ACTR3BP2,ANKRD20A8P,ANKRD36BP2,EIF2AK3,FABP1,FOXI3,GGT8P,KRCC1,LOC442028,LOC654342,LOC90499,MAL,MIR4436A,MIR4780,MRPS5,PLGLB1,PLGLB2,RGPD1,RGPD2,RPIA,SMYD1,TEKT4,TEX37,THNSL2,ZNF2,ZNF514 chr2 88049243 88049605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLGLB1,PLGLB2 chr2 88053290 88053716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLGLB1,PLGLB2 chr2 88095233 88095329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD1,RGPD2 chr2 88096988 88097181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD1,RGPD2 chr2 88102084 88102331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGPD1,RGPD2 chr2 88104459 88955271 Substitutions and indels small cell lung cancer array-CGH 20016488 EIF2AK3,FABP1,FOXI3,KRCC1,MIR4780,RGPD1,RGPD2,SMYD1,TEX37,THNSL2 chr2 88107838 88136397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGPD1,RGPD2 chr2 88107838 88136397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD1,RGPD2 chr2 88142621 88142968 Loss Normal 244K array 17666407 RGPD1 chr2 88148496 88194015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGPD1 chr2 88148496 88194015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD1 chr2 88153380 88153476 Gain and loss Pancreatic cancer SNP array 17952125 RGPD1 chr2 88155139 88155328 Gain and loss Pancreatic cancer SNP array 17952125 RGPD1 chr2 88162851 88386000 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KRCC1,MIR4780,RGPD1,SMYD1 chr2 88165984 88194534 Gain and loss Pancreatic cancer SNP array 17952125 RGPD1 chr2 88178105 88915881 LOH Normal High-resolution SNP genotyping 21211785 EIF2AK3,FABP1,FOXI3,KRCC1,MIR4780,RGPD1,SMYD1,TEX37,THNSL2 chr2 88178105 88933606 LOH Normal High-resolution SNP genotyping 21211785 EIF2AK3,FABP1,FOXI3,KRCC1,MIR4780,RGPD1,SMYD1,TEX37,THNSL2 chr2 8819658 8928328 Gain and loss Pancreatic cancer SNP array 17952125 ID2,KIDINS220 chr2 88203625 88208693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGPD1 chr2 88203625 88208693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD1 chr2 88206643 88252158 Gain and loss Pancreatic cancer SNP array 17952125 RGPD1 chr2 88210954 88211267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGPD1 chr2 88210961 88211057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RGPD1 chr2 88211268 88211268 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 RGPD1 chr2 8822622 8822692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ID2 chr2 88250950 88267261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RGPD1 chr2 88250950 88267261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RGPD1 chr2 88261772 88266840 Gain and loss Pancreatic cancer SNP array 17952125 RGPD1 chr2 88310203 88310298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88310241 88325407 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 88352160 88396462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KRCC1,MIR4780,SMYD1 chr2 88368352 88368445 Gain and loss Pancreatic cancer SNP array 17952125 SMYD1 chr2 88368353 88368445 Gain and loss Pancreatic cancer SNP array 17952125 SMYD1 chr2 88381932 88382257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR4780,SMYD1 chr2 88387994 88388095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMYD1 chr2 88401503 88401603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMYD1 chr2 88403423 88448318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FABP1,SMYD1 chr2 88432332 88440722 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 88446141 88446242 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 88464128 88464231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88495532 88495638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88522281 88522380 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 88528841 88533027 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 88528841 88533027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88540814 88540894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 88553679 88553785 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 88578941 88579041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 88586988 88590935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 88603073 88603597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 88605284 88610217 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 88605284 88610217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88605284 88610217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88637376 88708209 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 88637376 88708209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88637376 88708209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88650145 88650244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 88663431 88668364 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 88691341 88881695 Indels Normal Affymetrix and Illumina arrays 20811451 EIF2AK3,FOXI3,TEX37 chr2 88695523 88766356 Gain and loss Pancreatic cancer SNP array 17952125 FOXI3 chr2 88772291 88831567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TEX37 chr2 88772291 88831567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEX37 chr2 88772291 88831567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX37 chr2 88800 89400 Copy number Lymphoma KC-SMARTR 21070656 NOT_FOUND chr2 88810344 88813397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 88830461 88889713 Gain and loss Pancreatic cancer SNP array 17952125 EIF2AK3 chr2 88842054 88842506 Copy number Normal Paralogue Ratio Test systems 17175532 NOT_FOUND chr2 88844771 132707296 Copy number Lung cancer paired-end sequencing 18438408 ACOXL,ACTR1B,ACTR3,ACTR3BP2,ADRA2B,AFF3,AMMECR1L,ANAPC1,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD36BP2,ANKRD39,ARHGEF4,ARID5A,ASTL,BCL2L11,BIN1,BUB1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf49,C2orf76,CBWD2,CCDC115,CCDC138,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CFC1,CFC1B,CHCHD5,CHST10,CIAO1,CKAP2L,CLASP1,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COX5B,CREG2,CYP27C1,CYP4F30P,DBI,DDX11L2,DDX18,DPP10,DUSP2,EDAR,EIF2AK3,EIF5B,EN1,EPB41L5,ERCC3,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM138B,FAM168B,FAM178B,FBLN7,FER1L5,FHL2,FLJ42351,FOXD4L1,GCC2,GGT8P,GLI2,GPAT2,GPR148,GPR17,GPR45,GYPC,HS6ST1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCNIP3,KIAA1211L,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LMAN2L,LOC100131320,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC285033,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC646743,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LYG1,LYG2,MAL,MALL,MAP3K2,MAP4K4,MARCO,MERTK,MFSD9,MGAT4A,MIR3127,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436A,MIR4436B1,MIR4436B2,MIR4772,MIR4782,MIR4783,MIR4784,MIR5696,MITD1,MKI67IP,MRPL30,MRPS5,MRPS9,MYO7B,MZT2A,MZT2B,NCAPH,NCK2,NEURL3,NMS,NPAS2,NPHP1,PAX8,PCDP1,PDCL3,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PROM2,PSD4,PTPN18,PTPN4,RAB6C,RABL2A,RALB,RANBP2,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RNF149,RNU4ATAC,RNU6-81,RPIA,RPL23AP7,RPL31,SAP130,SCTR,SEMA4C,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SNORD89,SNRNP200,SOWAHC,ST6GAL2,STARD7,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TEKT4,TFCP2L1,TGFBRAP1,TISP43,TMEM127,TMEM131,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TRIM43,TRIM43B,TSGA10,TSN,TTL,TUBA3D,TUBA3E,TXNDC9,UGGT1,UNC50,UXS1,VWA3B,WASH2P,WDR33,WTH3DI,ZAP70,ZC3H6,ZC3H8,ZNF2,ZNF514 chr2 88845001 88846500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 88846501 88888000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EIF2AK3 chr2 88847950 88848045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88870756 88870856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF2AK3 chr2 88873053 88873153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF2AK3 chr2 88888001 88894000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EIF2AK3 chr2 88903196 89832982 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88903196 89958702 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88904163 88948983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EIF2AK3 chr2 88906603 89958702 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88907248 89139739 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88907331 89281576 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88907418 89958702 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88907791 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88907791 89916665 Copy number gain Normal High-resolution SNP genotyping 21211785 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88910179 89326446 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88911124 89335028 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88911124 89365010 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88911125 89266853 Amplification Normal Arbitrated Peel-off 21527027 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88911125 89266853 Amplification Normal Standard peel-off 21527027 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88911856 89189757 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88912170 89139739 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88912170 89189757 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88912170 89326446 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88913396 88937880 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 EIF2AK3 chr2 88913397 88942192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EIF2AK3 chr2 88913548 88942606 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 EIF2AK3 chr2 88913572 88940571 Loss Normal TaqMan assays 20972442 EIF2AK3 chr2 88914227 89139739 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89139739 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89189757 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89189757 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89200032 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89200032 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89209197 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89209197 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89211266 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89228819 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89228819 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89228819 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89233258 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89236978 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89236978 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89236978 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89242149 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89242149 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89242149 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89253701 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89254935 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89254935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89258789 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89258789 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89270498 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89278791 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89278791 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89278791 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89281576 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89281576 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89282341 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89282341 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89282341 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89303049 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89303049 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89303049 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89303049 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89326446 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89326446 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89326446 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89365010 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89365010 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89374858 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89374858 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89374858 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89379811 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89632330 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89660796 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89660796 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89660796 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89673147 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89690918 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89714801 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89773178 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89773178 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89773178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89832970 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89832970 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89848898 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89848898 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89862346 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 89867415 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 91151503 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 91281978 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914227 91454600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 89326327 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 89332309 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 89334999 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 89832982 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 89850525 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 89854524 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 89958702 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 91050433 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914239 91068463 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89139739 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89189757 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89200032 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89228819 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89228819 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89236978 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89242149 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89242149 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89254935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89258789 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89258789 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89278791 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89281576 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88914734 89282341 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88915881 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88915881 89916665 Copy number gain Normal High-resolution SNP genotyping 21211785 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89108504 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,RPIA chr2 88917155 89139739 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89139739 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89166425 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89189757 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89189757 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89200032 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89209197 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89228819 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89228819 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89233258 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89236978 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89236978 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89242149 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89242149 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89254935 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89258789 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89258789 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89278791 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89278791 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89281576 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89282341 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89326446 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89660796 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917155 89773178 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88917277 89773178 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88924655 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88924871 89233258 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88924871 89242149 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88924871 89258789 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88924871 89326446 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88924871 89632330 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88924871 89958690 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88924871 91091707 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88925102 89242149 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88925102 89258789 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88925102 89326446 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88925150 89242149 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88925150 89281576 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88925199 89236978 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88925199 89242149 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88925215 89281576 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89209197 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89228819 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89242149 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89242149 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89326446 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89326446 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89374858 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89632330 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89753462 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89773178 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89832970 Duplication Normal Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 89904396 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88926927 91454600 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA chr2 88933606 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD36BP2,MIR4436A,RPIA chr2 88933606 89916665 Copy number gain Normal High-resolution SNP genotyping 21211785 ANKRD36BP2,MIR4436A,RPIA chr2 88937887 88940236 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr2 88937989 88938311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88939387 89125488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,MIR4436A,RPIA chr2 88939830 88943659 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 88941191 88941232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88941509 88941550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88941572 88946571 Loss Normal TaqMan assays 20972442 NOT_FOUND chr2 88941844 88941885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88942148 88942190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88942509 88942550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88942550 89223171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD36BP2,MIR4436A,RPIA chr2 88945353 89002460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPIA chr2 88945488 89110165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,RPIA chr2 88947489 89233019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,MIR4436A,RPIA chr2 88953513 89077332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,RPIA chr2 88956845 88996024 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPIA chr2 88960407 95659707 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTR3BP2,ANKRD20A8P,ANKRD36BP2,GGT8P,LOC442028,LOC654342,LOC90499,MIR4436A,RPIA,TEKT4 chr2 88964572 89062571 Loss Normal TaqMan assays 20972442 RPIA chr2 88966203 88966786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88968300 89336082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,MIR4436A,RPIA chr2 88970191 89265830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,MIR4436A,RPIA chr2 88971725 89114578 Gain Normal 244K array 17666407 ANKRD36BP2,MIR4436A,RPIA chr2 8897538 89830879 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AAK1,ABCG5,ABCG8,ABHD1,ACTG2,ACTR2,ACYP2,ADAM17,ADCY3,ADD2,AFTPH,AGBL5,AHSA2,ALK,ALMS1,ALMS1P,ANAPC1P1,ANKRD36BP2,ANKRD53,ANTXR1,ANXA4,APLF,APOB,ARHGAP25,ARHGEF33,ASAP2,ASB3,ASPRV1,ASXL2,ATAD2B,ATL2,ATOH8,ATP6V1B1,ATP6V1C2,ATP6V1E2,ATRAID,AUP1,B3GNT2,BCL11A,BIRC6,BMP10,BOLA3,BOLA3-AS1,BRE,BRE-AS1,C1D,C2orf16,C2orf18,C2orf42,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf56,C2orf61,C2orf65,C2orf68,C2orf70,C2orf71,C2orf73,C2orf74,C2orf78,C2orf81,C2orf91,CAD,CALM2,CAMKMT,CAPG,CAPN13,CAPN14,CCDC104,CCDC121,CCDC142,CCDC164,CCDC75,CCDC85A,CCDC88A,CCT4,CCT7,CD207,CD8A,CD8B,CDC42EP3,CDKL4,CEBPZ,CENPA,CENPO,CEP68,CGREF1,CHAC2,CHMP3,CIB4,CLEC4F,CLHC1,CLIP4,CNRIP1,COMMD1,COX7A2L,CPSF3,CRIM1,CRIPT,CTNNA2,CYP1B1,CYP1B1-AS1,CYP26B1,CYS1,DBIL5P2,DCTN1,DCTN1-AS1,DDX1,DGUOK,DHX57,DNAH6,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DOK1,DPY30,DPYSL5,DQX1,DTNB,DUSP11,DYNC2LI1,DYSF,E2F6,EFEMP1,EFR3B,EGR4,EHBP1,EHD3,EIF2AK2,EIF2AK3,EIF2B4,ELMOD3,EMILIN1,EML4,EML6,EMX1,EPAS1,EPCAM,EPT1,ERLEC1,ETAA1,EXOC6B,FABP1,FAM136A,FAM161A,FAM176A,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM82A1,FAM84A,FAM98A,FANCL,FBXO11,FBXO41,FBXO48,FEZ2,FIGLA,FKBP1B,FLJ12334,FLJ16341,FLJ30838,FLJ33534,FNDC4,FOSL2,FOXI3,FOXN2,FSHR,FTH1P3,FUNDC2P2,GALM,GALNT14,GCFC2,GCKR,GDF7,GEMIN6,GEN1,GFPT1,GGCX,GKN1,GKN2,GMCL1,GNLY,GPN1,GPR113,GPR75,GPR75-ASB3,GREB1,GRHL1,GTF2A1L,GTF3C2,HAAO,HADHA,HADHB,HEATR5B,HK2,HNRPLL,HPCAL1,HS1BP3,HTRA2,IAH1,IFT172,IMMT,INO80B,INO80B-WBP1,ITGB1BP1,ITSN2,KCMF1,KCNF1,KCNG3,KCNK12,KCNK3,KCNS3,KDM3A,KHK,KIAA1841,KIDINS220,KIF3C,KLF11,KLHL29,KRCC1,KRTCAP3,LAPTM4A,LBH,LBX2,LBX2-AS1,LCLAT1,LGALSL,LHCGR,LINC00152,LINC00309,LINC00486,LINC00570,LOC100129726,LOC100132215,LOC100133985,LOC100134259,LOC100271832,LOC100288911,LOC100505624,LOC100505716,LOC100505876,LOC100506474,LOC100630918,LOC1720,LOC284950,LOC285074,LOC339803,LOC339807,LOC375196,LOC388942,LOC388948,LOC400958,LOC644838,LOC645949,LOC728730,LOC728819,LOC90784,LOXL3,LPIN1,LRPPRC,LRRTM1,LRRTM4,LTBP1,MAP4K3,MAPRE3,MAT2A,MATN3,MBOAT2,MCEE,MCFD2,MDH1,MEIS1,MEIS1-AS3,MEMO1,MFSD2B,MIR1301,MIR216A,MIR216B,MIR217,MIR3125,MIR3126,MIR3682,MIR4261,MIR4262,MIR4263,MIR4264,MIR4426,MIR4429,MIR4432,MIR4434,MIR4435-1,MIR4435-2,MIR4436A,MIR4757,MIR4765,MIR4778,MIR4779,MIR4780,MIR5000,MIR5192,MIR548AD,MIR558,MIR559,MOB1A,MOGS,MORN2,MPHOSPH10,MPV17,MRPL19,MRPL33,MRPL35,MRPL53,MSGN1,MSH2,MSH6,MTA3,MTHFD2,MTIF2,MXD1,MYADML,MYCN,MYCNOS,NAGK,NAT8,NAT8B,NBAS,NCOA1,NFU1,NLRC4,NOL10,NOTO,NRBP1,NRXN1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OR7E91P,OSR1,OST4,OTOF,OTX1,OXER1,PAIP2B,PAPOLG,PCBP1,PCBP1-AS1,PCGF1,PCYOX1,PDIA6,PELI1,PEX13,PFN4,PIGF,PKDCC,PLB1,PLEK,PLEKHH2,PLGLB1,PLGLB2,PNO1,PNPT1,POLE4,POLR1A,POMC,PPM1B,PPM1G,PPP1CB,PPP1R21,PPP3R1,PQLC3,PRADC1,PREB,PREPL,PRKCE,PRKD3,PROKR1,PRORSD1P,PSME4,PTCD3,PTRHD1,PUM2,PUS10,QPCT,RAB10,RAB11FIP5,RAB1A,RAD51AP2,RASGRP3,RBKS,RDH14,REEP1,REG1A,REG1B,REG1P,REG3A,REG3G,REL,RETSAT,RGPD1,RGPD2,RHOB,RHOQ,RMND5A,RNF103,RNF103-CHMP3,RNF181,ROCK2,RPIA,RPL23AP32,RPS27A,RRM2,RTKN,RTN4,SDC1,SEMA4F,SERTAD2,SF3B14,SFTPB,SFXN5,SH2D6,SIX2,SIX3,SLC1A4,SLC30A3,SLC30A6,SLC3A1,SLC4A1AP,SLC4A5,SLC5A6,SLC8A1,SLC8A1-AS1,SMC6,SMEK2,SMYD1,SMYD5,SNAR-H,SNORA36C,SNORA70B,SNORA80B,SNORD53,SNORD92,SNORD94,SNRNP27,SNRPG,SNX17,SOCS5,SOS1,SPAST,SPDYA,SPR,SPRED2,SPTBN1,SRBD1,SRD5A2,SRSF7,ST3GAL5,STAMBP,STON1,STON1-GTF2A1L,STRN,SUCLG1,SULT6B1,SUPT7L,TACR1,TAF1B,TCF23,TCF7L1,TET3,TEX261,TEX37,TGFA,TGOLN2,THADA,THNSL2,THUMPD2,TIA1,TLX2,TMEM150A,TMEM17,TMEM178A,TMEM214,TMEM247,TMSB10,TP53I3,TPRKB,TRABD2A,TRIB2,TRIM54,TRMT61B,TSPYL6,TTC27,TTC31,TTC32,TTC7A,UBXN2A,UCN,UGP2,UNQ6975,USP34,USP39,VAMP5,VAMP8,VAX2,VIT,VPS54,VRK2,VSNL1,WBP1,WDPCP,WDR35,WDR43,WDR54,WDR92,XDH,XPO1,YIPF4,YPEL5,YWHAQ,ZFP36L2,ZNF512,ZNF513,ZNF638 chr2 88977926 88978417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88977926 88978417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 88988904 89288846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,MIR4436A,RPIA chr2 88989295 89325193 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ANKRD36BP2,MIR4436A,RPIA chr2 88991630 89170082 Both Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ANKRD36BP2,MIR4436A,RPIA chr2 88995489 89299411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,MIR4436A,RPIA chr2 88995711 88996309 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPIA chr2 88995711 88996309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPIA chr2 88995938 89459144 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD36BP2,MIR4436A,RPIA chr2 88997538 89830879 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ANKRD36BP2,MIR4436A,RPIA chr2 88998388 89046045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RPIA chr2 89000987 89136778 Gain Normal 244K array 17666407 ANKRD36BP2,MIR4436A,RPIA chr2 89002959 89003384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPIA chr2 89012299 89013013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPIA chr2 89024343 89025272 Gain and loss Pancreatic cancer SNP array 17952125 RPIA chr2 89027932 89028409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPIA chr2 89036073 89036562 Gain and loss Pancreatic cancer SNP array 17952125 RPIA chr2 89038604 91336881 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 ANKRD36BP2,MIR4436A,RPIA chr2 89046894 89047372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPIA chr2 89051256 89078413 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 ANKRD36BP2 chr2 89053858 89054456 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89058824 89248127 Gain Normal BAC array 16365383 ANKRD36BP2,MIR4436A chr2 89059100 89059618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89062541 89242332 Gain Normal BAC array 16365383 ANKRD36BP2,MIR4436A chr2 89063572 89069571 Loss Normal TaqMan assays 20972442 ANKRD36BP2 chr2 89071543 89074426 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD36BP2 chr2 89071543 89074426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36BP2 chr2 89071572 89087571 Loss Normal TaqMan assays 20972442 ANKRD36BP2 chr2 89073041 89073512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36BP2 chr2 89089443 89164711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36BP2,MIR4436A chr2 89090592 89091069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36BP2 chr2 89090592 89091069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36BP2 chr2 89096572 89103571 Loss Normal TaqMan assays 20972442 ANKRD36BP2 chr2 89100603 89101297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD36BP2 chr2 89100603 89101327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36BP2 chr2 89101340 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD36BP2,MIR4436A chr2 89106572 89112571 Loss Normal TaqMan assays 20972442 MIR4436A chr2 89107781 89108296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89117249 89117765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89120834 89121310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89126607 89127078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 8913976 8914076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIDINS220 chr2 89139802 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 8914152 9061327 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KIDINS220,MBOAT2 chr2 8914152 9061327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIDINS220,MBOAT2 chr2 8914152 9061327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIDINS220,MBOAT2 chr2 89145547 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89152719 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89158621 89159395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89165786 89166301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89180465 89180942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89181829 89182064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89193726 89193802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 89197946 89198423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89198559 89198659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 89209304 89210080 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 89209304 89210080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89215573 89215855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89223170 89223706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89223932 89224448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89230626 89230726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 89239976 89240211 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89240348 89240901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89240348 89240901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 8924318 8924406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIDINS220 chr2 89251374 89251811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89252621 89253152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89256925 89257729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89260000 90260000 Loss Breast cancer aCGH 21509527 NOT_FOUND chr2 89273103 89273355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89276699 89277432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89280911 89896700 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89280911 89896700 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89280911 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89280911 89916665 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89281313 89281889 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89291794 89314632 Gain Normal 244K array 17666407 NOT_FOUND chr2 89294021 89294497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89297472 89337191 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 89298497 89299036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89301103 89916665 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89301505 89301971 Gain Normal BAC array 16365383 NOT_FOUND chr2 89302292 89303027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89310718 89315495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89321530 89960518 Loss or gain Normal 244K array 17666407 NOT_FOUND chr2 89325377 89326164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89330327 89330632 Gain Normal BAC array 16365383 NOT_FOUND chr2 89332472 89896700 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89332472 89896700 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 89332812 89333337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89334172 89334616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89344195 89344735 Gain Normal BAC array 16365383 NOT_FOUND chr2 89348871 89349347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 8935310 8935371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIDINS220 chr2 89356171 89356660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89358358 94024263 Copy number Normal Quantitative Real-Time PCR 17666543 ACTR3BP2,GGT8P,LOC654342 chr2 89367561 89367845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89376105 89376327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89377501 89410500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 89378134 89378610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89378134 89378610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89383529 89384341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89389124 89389260 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 89390770 89391016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89395525 89597067 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 89400496 89400972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89401838 89895566 Deletion Rett syndrome References 21593744 NOT_FOUND chr2 89408107 89756113 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89410986 89411308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89410986 89411308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89423308 89423634 Gain Normal BAC array 16365383 NOT_FOUND chr2 89454751 89469440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 8947299 9094474 Gain and loss Pancreatic cancer SNP array 17952125 KIDINS220,MBOAT2 chr2 89562874 89563099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89571354 89571624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89571989 89756113 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89571989 89758644 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89571989 89758657 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89571989 89758796 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89582608 89583097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89589921 89590397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89589921 89590397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89597067 89609986 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 89600000 89900000 Loss Lung squamous cell carcinoma sub-megabase resolution tiling-set rearray platform 20842114 NOT_FOUND chr2 89604539 89604984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89605818 89606319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89609974 89756113 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89609986 89632342 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 89613009 89613796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89613009 89613796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89613964 89731311 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 89623657 89624386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89624745 89902565 Gain Non-syndromic sensorineural hearing loss 610K 19587683 NOT_FOUND chr2 89630118 89703211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 89632330 89773178 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89632330 91192388 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 89632330 91289188 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89632342 89636366 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 89635198 89902565 Deletion Oligozoospermia Array-CGH 20877625 NOT_FOUND chr2 89636367 89912071 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 89645170 89645461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89648258 89648548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89648427 89756030 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89648427 89758657 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89648440 89696396 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 89662063 89662815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89666098 89666332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89671156 89671938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89680165 89758657 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89680942 89681746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89685517 89686042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89686856 89687299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89703317 89703608 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89709710 89832970 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89714801 89877778 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr2 89715082 89715618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 8971811 8971891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIDINS220 chr2 89722933 89723194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89728732 89729523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89740700 89958350 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr2 89745835 89746387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89751273 89848898 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89751273 91160399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89753412 89832970 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89753412 89873958 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr2 89753412 89904396 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89755896 89756447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89758644 89771572 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758644 89773178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758644 89832970 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758644 89848898 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758644 89850279 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758644 89958690 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758644 91160399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758644 91192388 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758708 89773178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758708 89784200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758708 89848898 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89758963 89759440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89765712 89893212 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 89766654 89832970 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89766654 89867850 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89771231 89886077 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89771572 90985730 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89773178 89904396 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 8977482 9011653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIDINS220,MBOAT2 chr2 89775303 89775538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89776410 89776887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89784200 89958690 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89791050 89791565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89797943 89798721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 8979839 8979874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 89817110 89851131 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89830253 89830729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89830448 89830726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89833450 89833685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89836021 89836497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89838248 89838280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 89849045 89849560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89849045 89849560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89849197 89849713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89850279 89958690 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 89856035 89856733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89866370 89866838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89886225 89886702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89886225 89886702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89893212 89914612 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 89894358 89907645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89897079 89897555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89897079 89897555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89897439 89897914 Gain Normal BAC array 16365383 NOT_FOUND chr2 89899700 91192388 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 89911009 89911542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89912079 89912595 Gain Normal BAC array 16365383 NOT_FOUND chr2 89913501 90459000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 89925026 89993238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 89935265 89993187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 89937336 89937751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 89944372 89944847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89946814 89983069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 89955226 89969726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 89957240 89957539 Gain Normal BAC array 16365383 NOT_FOUND chr2 89959209 89972263 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 89961196 89963837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 9000000 11900000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ADAM17,ASAP2,ATP6V1C2,C2orf48,C2orf50,CPSF3,CYS1,E2F6,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ITGB1BP1,KCNF1,KLF11,LINC00570,LPIN1,MBOAT2,MIR4261,MIR4429,NOL10,NTSR2,ODC1,PDIA6,PQLC3,ROCK2,RRM2,SNORA80B,TAF1B,YWHAQ chr2 9036475 9036578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBOAT2 chr2 904015 977604 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SNTG2 chr2 90447501 93192550 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTR3BP2,GGT8P,LOC654342 chr2 90459001 90980000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 90500000 93300000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACTR3BP2,GGT8P,LOC654342 chr2 9069622 9069725 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT2 chr2 9082739 9116202 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MBOAT2 chr2 90958831 91073415 Gain Normal TaqMan assays 20972442 NOT_FOUND chr2 90959098 91689316 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 90959098 91689316 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 90980001 90999000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 90982622 91179429 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 90998814 90999268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 91000000 91500000 Loss Lung squamous cell carcinoma sub-megabase resolution tiling-set rearray platform 20842114 NOT_FOUND chr2 91000000 93300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR3BP2,GGT8P,LOC654342 chr2 91000000 93300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR3BP2,GGT8P,LOC654342 chr2 91000000 93300000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ACTR3BP2,GGT8P,LOC654342 chr2 91000000 95700000 Increases Medulloblastoma interphase fluorescence in situ hybridization(I-FISH) 20607354 ACTR3BP2,ANKRD20A8P,GGT8P,LOC442028,LOC654342,LOC90499,MAL,TEKT4 chr2 91000501 91060000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91016978 91211972 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91016978 91211972 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91016978 91539838 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91017077 91154463 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 91017077 91154871 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 91017077 91165199 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 91017077 91165199 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 91017077 91285520 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 91042814 91318999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91043624 91049199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 91050421 91154871 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 91051224 91539838 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91056603 91058023 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91060001 91123000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91087616 94286916 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ACTR3BP2,GGT8P,LOC654342 chr2 9109085 9109626 Gain and loss Pancreatic cancer SNP array 17952125 MBOAT2 chr2 91097901 91098177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91107438 91130544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91108282 91121024 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91114432 91130465 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91114528 94970693 Gain Normal 244K array 17666407 ACTR3BP2,GGT8P,LOC654342 chr2 91114788 91123494 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 91115247 91122464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91119738 91195844 Duplication Normal TaqMan assays 20972442 NOT_FOUND chr2 91123001 91204250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91137059 91192388 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 91137059 91421325 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 91137059 91669499 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr2 91142356 91160399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr2 91159351 91243749 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91159674 91197478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91160379 91212316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91161477 91201364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91165698 91207724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91168584 91214496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91170515 91196237 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91188435 91211702 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 91188435 91211702 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr2 91190348 91190412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 91197159 91197515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91199410 91231324 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91200000 148400000 Copy number Mowat-Wilson syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ACMSD,ACOXL,ACTR1B,ACTR3,ACTR3BP2,ADRA2B,AFF3,AMMECR1L,ANAPC1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ARHGAP15,ARHGEF4,ARID5A,ASTL,BCL2L11,BIN1,BUB1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf49,C2orf76,CBWD2,CCDC115,CCDC138,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CFC1,CFC1B,CHCHD5,CHST10,CIAO1,CKAP2L,CLASP1,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COX5B,CREG2,CXCR4,CYP27C1,CYP4F30P,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DUSP2,EDAR,EIF5B,EN1,EPB41L5,ERCC3,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM138B,FAM168B,FAM178B,FBLN7,FER1L5,FHL2,FLJ42351,FOXD4L1,GCC2,GGT8P,GLI2,GPAT2,GPR148,GPR17,GPR39,GPR45,GTDC1,GYPC,HNMT,HS6ST1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCNIP3,KIAA1211L,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LMAN2L,LOC100129961,LOC100131320,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC100507600,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC285033,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LYG1,LYG2,LYPD1,MAL,MALL,MAP3K2,MAP4K4,MARCO,MCM6,MERTK,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR3127,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4782,MIR4783,MIR4784,MIR5696,MIR663B,MITD1,MKI67IP,MRPL30,MRPS5,MRPS9,MYO7B,MZT2A,MZT2B,NCAPH,NCK2,NCKAP5,NEURL3,NMS,NPAS2,NPHP1,NXPH2,PABPC1P2,PAX8,PCDP1,PDCL3,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PROM2,PSD4,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RNF149,RNU4ATAC,RNU6-81,RPL23AP7,RPL31,SAP130,SCTR,SEMA4C,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SNORD89,SNRNP200,SOWAHC,SPOPL,ST6GAL2,STARD7,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TEKT4,TFCP2L1,TGFBRAP1,THSD7B,TISP43,TMEM127,TMEM131,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TRIM43,TRIM43B,TSGA10,TSN,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN4,UGGT1,UNC50,UXS1,VWA3B,WASH2P,WDR33,WTH3DI,YSK4,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZNF2,ZNF514,ZRANB3 chr2 91200000 148400000 Loss Disorders of sex development oligo V6.5 21048976 ACMSD,ACOXL,ACTR1B,ACTR3,ACTR3BP2,ADRA2B,AFF3,AMMECR1L,ANAPC1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ARHGAP15,ARHGEF4,ARID5A,ASTL,BCL2L11,BIN1,BUB1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf49,C2orf76,CBWD2,CCDC115,CCDC138,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CFC1,CFC1B,CHCHD5,CHST10,CIAO1,CKAP2L,CLASP1,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COX5B,CREG2,CXCR4,CYP27C1,CYP4F30P,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DUSP2,EDAR,EIF5B,EN1,EPB41L5,ERCC3,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM138B,FAM168B,FAM178B,FBLN7,FER1L5,FHL2,FLJ42351,FOXD4L1,GCC2,GGT8P,GLI2,GPAT2,GPR148,GPR17,GPR39,GPR45,GTDC1,GYPC,HNMT,HS6ST1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCNIP3,KIAA1211L,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LMAN2L,LOC100129961,LOC100131320,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC100507600,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC285033,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LYG1,LYG2,LYPD1,MAL,MALL,MAP3K2,MAP4K4,MARCO,MCM6,MERTK,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR3127,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4782,MIR4783,MIR4784,MIR5696,MIR663B,MITD1,MKI67IP,MRPL30,MRPS5,MRPS9,MYO7B,MZT2A,MZT2B,NCAPH,NCK2,NCKAP5,NEURL3,NMS,NPAS2,NPHP1,NXPH2,PABPC1P2,PAX8,PCDP1,PDCL3,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PROM2,PSD4,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RNF149,RNU4ATAC,RNU6-81,RPL23AP7,RPL31,SAP130,SCTR,SEMA4C,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SNORD89,SNRNP200,SOWAHC,SPOPL,ST6GAL2,STARD7,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TEKT4,TFCP2L1,TGFBRAP1,THSD7B,TISP43,TMEM127,TMEM131,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TRIM43,TRIM43B,TSGA10,TSN,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN4,UGGT1,UNC50,UXS1,VWA3B,WASH2P,WDR33,WTH3DI,YSK4,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZNF2,ZNF514,ZRANB3 chr2 91200000 154600000 Copy number epilepsy - 18472482 ACMSD,ACOXL,ACTR1B,ACTR3,ACTR3BP2,ACVR2A,ADRA2B,AFF3,AMMECR1L,ANAPC1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ARHGAP15,ARHGEF4,ARID5A,ARL5A,ARL6IP6,ASTL,BCL2L11,BIN1,BUB1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf49,C2orf76,CACNB4,CBWD2,CCDC115,CCDC138,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CFC1,CFC1B,CHCHD5,CHST10,CIAO1,CKAP2L,CLASP1,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COX5B,CREG2,CXCR4,CYP27C1,CYP4F30P,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DUSP2,EDAR,EIF5B,EN1,EPB41L5,EPC2,ERCC3,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM138B,FAM168B,FAM178B,FBLN7,FER1L5,FHL2,FLJ42351,FMNL2,FOXD4L1,GCC2,GGT8P,GLI2,GPAT2,GPR148,GPR17,GPR39,GPR45,GTDC1,GYPC,HNMT,HS6ST1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCNIP3,KIAA1211L,KIF5C,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LMAN2L,LOC100129961,LOC100131320,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC100507600,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC285033,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K4,MARCO,MBD5,MCM6,MERTK,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR3127,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4773-1,MIR4773-2,MIR4782,MIR4783,MIR4784,MIR5696,MIR663B,MITD1,MKI67IP,MMADHC,MRPL30,MRPS5,MRPS9,MYO7B,MZT2A,MZT2B,NCAPH,NCK2,NCKAP5,NEB,NEURL3,NMI,NMS,NPAS2,NPHP1,NXPH2,ORC4,PABPC1P2,PAX8,PCDP1,PDCL3,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PROM2,PRPF40A,PSD4,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,RBM43,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RIF1,RND3,RNF149,RNU4ATAC,RNU6-81,RPL23AP7,RPL31,RPRM,SAP130,SCTR,SEMA4C,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SNORD89,SNRNP200,SOWAHC,SPOPL,ST6GAL2,STAM2,STARD7,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TEKT4,TFCP2L1,TGFBRAP1,THSD7B,TISP43,TMEM127,TMEM131,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TNFAIP6,TRIM43,TRIM43B,TSGA10,TSN,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN4,UGGT1,UNC50,UXS1,VWA3B,WASH2P,WDR33,WTH3DI,YSK4,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZNF2,ZNF514,ZRANB3 chr2 91204251 91206750 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91206673 91211725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91206751 91212000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91212001 91316500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91214888 91539838 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91214888 91539838 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91226610 91226719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91237065 91237636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91253786 91411838 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91253786 91536041 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91255306 91255662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91264820 91269872 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91275104 91308309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 91284757 91284845 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91284761 91284856 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91285533 91651996 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 91294409 91294827 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91295212 91295783 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91299693 91300742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91316501 91323500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91323501 91328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91327094 91333880 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 91333037 91333426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91357840 91358820 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91358081 242757116 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACTR3BP2,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GGT8P,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654342,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 91361149 91677266 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 91361149 91677266 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 9136 29277186 Copy number Lung cancer paired-end sequencing 18438408 ABHD1,ACP1,ADAM17,ADCY3,ADI1,AGBL5,ALLC,APOB,ASAP2,ASXL2,ATAD2B,ATP6V1C2,ATRAID,BRE,BRE-AS1,C2orf16,C2orf18,C2orf43,C2orf44,C2orf48,C2orf50,C2orf53,C2orf70,CAD,CCDC121,CCDC164,CENPA,CENPO,CGREF1,CIB4,CMPK2,COLEC11,CPSF3,CYS1,DDX1,DNAJC27,DNAJC27-AS1,DNAJC5G,DNMT3A,DPYSL5,DTNB,E2F6,EFR3B,EIF2B4,EMILIN1,EPT1,FAM110C,FAM150B,FAM179A,FAM228A,FAM228B,FAM49A,FAM59B,FAM84A,FKBP1B,FLJ12334,FLJ33534,FNDC4,FOSL2,FTH1P3,GCKR,GDF7,GEN1,GPN1,GPR113,GREB1,GRHL1,GTF3C2,HADHA,HADHB,HPCAL1,HS1BP3,IAH1,ID2,IFT172,ITGB1BP1,ITSN2,KCNF1,KCNK3,KCNS3,KHK,KIDINS220,KIF3C,KLF11,KLHL29,KRTCAP3,LAPTM4A,LINC00299,LINC00487,LINC00570,LOC100505624,LOC100505716,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC645949,LOC727982,LOC730811,LPIN1,MAPRE3,MATN3,MBOAT2,MFSD2B,MIR1301,MIR3125,MIR4261,MIR4262,MIR4263,MIR4429,MIR4757,MPV17,MRPL33,MSGN1,MYCN,MYCNOS,MYT1L,NBAS,NCOA1,NOL10,NRBP1,NT5C1B,NT5C1B-RDH14,NTSR2,ODC1,OSR1,OST4,OTOF,PDIA6,PFN4,PLB1,POMC,PPM1G,PPP1CB,PQLC3,PREB,PTRHD1,PUM2,PXDN,RAB10,RAD51AP2,RBKS,RDH14,RHOB,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SDC1,SF3B14,SH3YL1,SLC30A3,SLC4A1AP,SLC5A6,SMC6,SNORA80B,SNORD53,SNORD92,SNTG2,SNX17,SOX11,SPDYA,SUPT7L,TAF1B,TCF23,TMEM18,TMEM214,TP53I3,TPO,TRAPPC12,TRIB2,TRIM54,TRMT61B,TSSC1,TTC32,UBXN2A,UCN,VSNL1,WDR35,WDR43,YWHAQ,ZNF512,ZNF513 chr2 91385242 91392027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91392354 91395689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91392501 91397000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91434829 91483467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91434829 91483467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91489680 91490103 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91492885 91494221 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr2 91492904 91494223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91492904 91494223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 91493011 91541614 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 9151501 9210000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91532001 91538000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91551033 91552370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91625220 91633918 Gain Normal TaqMan assays 20972442 NOT_FOUND chr2 91631001 91669000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 91644418 91644708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 91669001 93189500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTR3BP2,GGT8P,LOC654342 chr2 9172130 9812469 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM17,ASAP2,CPSF3,IAH1,ITGB1BP1,YWHAQ chr2 91819054 91819154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 9190739 9190771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 9264345 9463257 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASAP2 chr2 9264345 9463257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASAP2 chr2 9264345 9463257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASAP2 chr2 9274703 9274803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 9277448 9277548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 9297492 9496404 Gain and loss Pancreatic cancer SNP array 17952125 ASAP2 chr2 9324718 9324818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 9328865 9329208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 93300000 136800000 Amplification Hepatocellular carcinoma Array CGH 16750200 ACMSD,ACOXL,ACTR1B,ACTR3,ADRA2B,AFF3,AMMECR1L,ANAPC1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ARHGEF4,ARID5A,ASTL,BCL2L11,BIN1,BUB1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf49,C2orf76,CBWD2,CCDC115,CCDC138,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CFC1,CFC1B,CHCHD5,CHST10,CIAO1,CKAP2L,CLASP1,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COX5B,CREG2,CYP27C1,CYP4F30P,DARS,DBI,DDX11L2,DDX18,DPP10,DUSP2,EDAR,EIF5B,EN1,EPB41L5,ERCC3,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM138B,FAM168B,FAM178B,FBLN7,FER1L5,FHL2,FLJ42351,FOXD4L1,GCC2,GLI2,GPAT2,GPR148,GPR17,GPR39,GPR45,GYPC,HS6ST1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCNIP3,KIAA1211L,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LMAN2L,LOC100129961,LOC100131320,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC100507600,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC285033,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC646743,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LYG1,LYG2,LYPD1,MAL,MALL,MAP3K2,MAP4K4,MARCO,MCM6,MERTK,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR3127,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4782,MIR4783,MIR4784,MIR5696,MIR663B,MITD1,MKI67IP,MRPL30,MRPS5,MRPS9,MYO7B,MZT2A,MZT2B,NCAPH,NCK2,NCKAP5,NEURL3,NMS,NPAS2,NPHP1,PAX8,PCDP1,PDCL3,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PROM2,PSD4,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RNF149,RNU4ATAC,RNU6-81,RPL23AP7,RPL31,SAP130,SCTR,SEMA4C,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SNORD89,SNRNP200,SOWAHC,ST6GAL2,STARD7,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TEKT4,TFCP2L1,TGFBRAP1,TISP43,TMEM127,TMEM131,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TRIM43,TRIM43B,TSGA10,TSN,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN4,UGGT1,UNC50,UXS1,VWA3B,WASH2P,WDR33,WTH3DI,YSK4,ZAP70,ZC3H6,ZC3H8,ZNF2,ZNF514,ZRANB3 chr2 93300000 242951149 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 242951149 Deletion Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 242951149 Gain Esophageal squamous carcinoma CGH 21637470 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 242951149 Gain Ewing's sarcoma CGH(Reference) 21437220 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 242951149 Gain Liposarcoma FISH, CGH 21253554 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 242951149 Gain or loss Endometrial cancer CGH 22040021 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 242951149 Loss Breast cancer aCGH 21264507 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 242951149 Loss Liposarcoma FISH, CGH 21253554 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 243199373 Copy number Autism Affymetrix 10K version 2 SNP array 19401682 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728323,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 243199373 Copy number Embryonal rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728323,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 243199373 Deletion Autism Affymetrix Mapping 10K GeneChip 16446308 AAMP,ABCA12,ABCB11,ABCB6,ABI2,ACADL,ACMSD,ACOXL,ACSL3,ACTR1B,ACTR3,ACVR1,ACVR1C,ACVR2A,ADAM23,ADRA2B,AFF3,AGAP1,AGFG1,AGPS,AGXT,ALPI,ALPP,ALPPL2,ALS2,ALS2CR11,ALS2CR12,ALS2CR8,AMMECR1L,ANAPC1,ANKAR,ANKMY1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ANKRD44,ANKZF1,ANO7,AOX1,AOX2P,AP1S3,AQP12A,AQP12B,ARHGAP15,ARHGEF4,ARID5A,ARL4C,ARL5A,ARL6IP6,ARMC9,ARPC2,ASB1,ASB18,ASIC4,ASNSD1,ASTL,ATF2,ATG16L1,ATG4B,ATG9A,ATIC,ATP5G3,B3GALT1,B3GNT7,BARD1,BAZ2B,BBS5,BCL2L11,BCS1L,BIN1,BMPR2,BOK,BOK-AS1,BOLL,BUB1,BZW1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf47,C2orf49,C2orf54,C2orf57,C2orf62,C2orf66,C2orf69,C2orf72,C2orf76,C2orf80,C2orf82,C2orf83,C2orf88,CAB39,CACNB4,CALCRL,CAPN10,CASP10,CASP8,CBWD2,CCDC108,CCDC115,CCDC138,CCDC140,CCDC141,CCDC148,CCDC148-AS1,CCDC150,CCDC173,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCL20,CCNT2,CCNYL1,CD28,CD302,CDCA7,CDK15,CDK5R2,CERKL,CERS6,CFC1,CFC1B,CFLAR,CFLAR-AS1,CHCHD5,CHN1,CHPF,CHRNA1,CHRND,CHRNG,CHST10,CIAO1,CIR1,CKAP2L,CLASP1,CLK1,CNGA3,CNNM3,CNNM4,CNPPD1,CNTNAP5,COA5,COBLL1,COL3A1,COL4A3,COL4A4,COL5A2,COL6A3,COPS7B,COPS8,COQ10B,COX5B,CPO,CPS1,CPS1-IT1,CREB1,CREG2,CRYBA2,CRYGA,CRYGB,CRYGC,CRYGD,CSRNP3,CTDSP1,CTLA4,CUL3,CWC22,CXCR1,CXCR2,CXCR2P1,CXCR4,CXCR7,CXXC11,CYBRD1,CYP20A1,CYP27A1,CYP27C1,CYP4F30P,CYTIP,D2HGDH,DAPL1,DARS,DBI,DCAF17,DDX11L2,DDX18,DES,DFNB59,DGKD,DHRS9,DIRC1,DIRC3,DIS3L2,DKFZp686O1327,DLX1,DLX2,DNAH7,DNAJB2,DNAJB3,DNAJC10,DNER,DNPEP,DOCK10,DPP10,DPP4,DTYMK,DUSP19,DUSP2,DUSP28,DYNC1I2,DYTN,ECEL1,ECEL1P2,EDAR,EEF1B2,EFHD1,EIF4E2,EIF5B,EN1,EPB41L5,EPC2,EPHA4,ERBB4,ERCC3,ERMN,ESPNL,EVX2,FAHD2A,FAHD2B,FAHD2CP,FAM117B,FAM123C,FAM124B,FAM126B,FAM134A,FAM138B,FAM168B,FAM171B,FAM178B,FAP,FARP2,FARSB,FASTKD1,FASTKD2,FBLN7,FBXO36,FER1L5,FEV,FHL2,FIGN,FKBP7,FLJ42351,FLJ43879,FMNL2,FN1,FONG,FOXD4L1,FRZB,FSIP2,FZD5,FZD7,G6PC2,GAD1,GAL3ST2,GALNT13,GALNT3,GALNT5,GBX2,GCA,GCC2,GCG,GCSHP3,GIGYF2,GLB1L,GLI2,GLS,GMPPA,GORASP2,GPAT2,GPBAR1,GPC1,GPD2,GPR1,GPR148,GPR155,GPR17,GPR35,GPR39,GPR45,GPR55,GRB14,GTDC1,GTF3C3,GULP1,GYPC,HAT1,HDAC4,HDLBP,HECW2,HES6,HIBCH,HJURP,HNMT,HNRNPA3,HOXD-AS1,HOXD-AS2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,HS6ST1,HSPD1,HSPE1,HSPE1-MOB4,HTR2B,ICA1L,ICOS,IDH1,IDH1-AS1,IFIH1,IGFBP2,IGFBP5,IHH,IKZF2,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,ILKAP,IMP4,ING5,INHA,INHBB,INO80D,INPP1,INPP4A,INPP5D,INSIG2,IQCA1,IRS1,ITGA4,ITGA6,ITGAV,ITGB6,ITM2C,ITPRIPL1,IWS1,KANSL1L,KANSL3,KBTBD10,KCNE4,KCNH7,KCNIP3,KCNJ13,KCNJ3,KCTD18,KIAA1211L,KIAA1715,KIF1A,KIF5C,KLF7,KLHL23,KLHL30,KYNU,LANCL1,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LINC00471,LINC00607,LINC00608,LIPT1,LMAN2L,LOC100129175,LOC100129961,LOC100130451,LOC100130452,LOC100130691,LOC100131320,LOC100144595,LOC100216479,LOC100286922,LOC100287010,LOC100288570,LOC100499194,LOC100505695,LOC100506123,LOC100506124,LOC100506134,LOC100506421,LOC100507140,LOC100507334,LOC100507443,LOC100507600,LOC100861402,LOC150568,LOC150776,LOC150935,LOC151009,LOC151171,LOC151174,LOC151475,LOC151484,LOC200726,LOC200772,LOC254128,LOC284998,LOC285000,LOC285033,LOC285084,LOC348761,LOC375295,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC440925,LOC442028,LOC541471,LOC643387,LOC646736,LOC646743,LOC647012,LOC654433,LOC728323,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LRP2,LRRFIP1,LY75,LY75-CD302,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP2,MAP3K2,MAP4K4,MARCH4,MARCH7,MARCO,MARS2,MBD5,MCM6,MDH1B,MERTK,METAP1D,METTL21A,METTL5,METTL8,MFF,MFSD6,MFSD9,MGAT4A,MGAT5,MGC16025,MIR10B,MIR1244-1,MIR1244-2,MIR1244-3,MIR1245A,MIR1245B,MIR1246,MIR1258,MIR128-1,MIR1471,MIR149,MIR153-1,MIR2355,MIR2467,MIR26B,MIR3127,MIR3128,MIR3129,MIR3130-1,MIR3130-2,MIR3131,MIR3132,MIR3606,MIR3679,MIR375,MIR4265,MIR4266,MIR4267,MIR4268,MIR4269,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4437,MIR4439,MIR4440,MIR4441,MIR4444-1,MIR4772,MIR4773-1,MIR4773-2,MIR4774,MIR4775,MIR4776-1,MIR4776-2,MIR4777,MIR4782,MIR4783,MIR4784,MIR4785,MIR4786,MIR5001,MIR548AR,MIR548F2,MIR548N,MIR561,MIR5696,MIR5702,MIR5703,MIR663B,MIR933,MITD1,MKI67IP,MLK7-AS1,MLPH,MMADHC,MOB4,MOGAT1,MPP4,MREG,MRPL30,MRPL44,MRPS5,MRPS9,MSL3P1,MSTN,MTERFD2,MTX2,MYEOV2,MYL1,MYO1B,MYO3B,MYO7B,MZT2A,MZT2B,NAB1,NABP1,NBEAL1,NCAPH,NCK2,NCKAP1,NCKAP5,NCL,NDUFA10,NDUFB3,NDUFS1,NEB,NEU2,NEU4,NEURL3,NEUROD1,NFE2L2,NGEF,NHEJ1,NIF3L1,NMI,NMS,NMUR1,NOP58,NOSTRIN,NPAS2,NPHP1,NPPC,NR4A2,NRP2,NUP35,NXPH2,NYAP2,OBSL1,OLA1,OR6B2,OR6B3,ORC2,ORC4,ORMDL1,OSBPL6,OSGEPL1,OTOS,PABPC1P2,PARD3B,PASK,PAX3,PAX8,PCDP1,PCGEM1,PDCD1,PDCL3,PDE11A,PDE1A,PDE6D,PDK1,PECR,PER2,PGAP1,PHOSPHO2,PHOSPHO2-KLHL23,PID1,PIKFYVE,PKI55,PKP4,PLA2R1,PLCD4,PLCL1,PLEKHA3,PLEKHB2,PLEKHM3,PLGLA,PMS1,PNKD,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PP14571,PPIG,PPIL3,PPP1R1C,PPP1R7,PRKAG3,PRKRA,PRLH,PROC,PROM2,PRPF40A,PRR21,PRSS56,PSD4,PSMD1,PSMD14,PTH2R,PTMA,PTPN18,PTPN4,PTPRN,R3HDM1,RAB17,RAB3GAP1,RAB6C,RABL2A,RALB,RAMP1,RANBP2,RAPGEF4,RAPGEF4-AS1,RAPH1,RBM43,RBM44,RBM45,RBMS1,RESP18,REV1,RFTN2,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RHBDD1,RIF1,RND3,RNF149,RNF25,RNPEPL1,RNU4ATAC,RNU6-81,RPE,RPL23AP7,RPL31,RPL37A,RPRM,RQCD1,RUFY4,SAG,SAP130,SATB2,SATB2-AS1,SCARNA5,SCARNA6,SCG2,SCLY,SCN1A,SCN2A,SCN3A,SCN7A,SCN9A,SCRN3,SCTR,SDPR,SEMA4C,SEPT10,SEPT2,SERPINE2,SESTD1,SF3B1,SFT2D3,SGOL2,SGPP2,SH3BP4,SH3RF3,SH3RF3-AS1,SLC11A1,SLC16A14,SLC19A3,SLC20A1,SLC23A3,SLC25A12,SLC35F5,SLC38A11,SLC39A10,SLC40A1,SLC4A10,SLC4A3,SLC5A7,SLC9A2,SLC9A4,SMARCAL1,SMPD4,SNED1,SNORA41,SNORA70F,SNORA75,SNORD11,SNORD11B,SNORD20,SNORD51,SNORD70,SNORD82,SNORD89,SNRNP200,SOWAHC,SP100,SP110,SP140,SP140L,SP3,SP5,SP9,SPAG16,SPATA3,SPATS2L,SPC25,SPEG,SPHKAP,SPOPL,SPP2,SSB,SSFA2,ST6GAL2,STAM2,STARD7,STAT1,STAT4,STEAP3,STK11IP,STK16,STK17B,STK25,STK36,STK39,STRADB,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,SUMO1,TANC1,TANK,TBC1D8,TBR1,TEKT4,TFCP2L1,TFPI,TGFBRAP1,THAP4,THSD7B,TIGD1,TISP43,TLK1,TM4SF20,TMBIM1,TMEFF2,TMEM127,TMEM131,TMEM163,TMEM169,TMEM177,TMEM182,TMEM185B,TMEM194B,TMEM198,TMEM237,TMEM37,TMEM87B,TNFAIP6,TNP1,TNS1,TRAF3IP1,TRAK2,TRIM43,TRIM43B,TRIP12,TRPM8,TSGA10,TSN,TTC21B,TTC30A,TTC30B,TTL,TTLL4,TTN,TTN-AS1,TUBA3D,TUBA3E,TUBA4A,TUBA4B,TWIST2,TXNDC9,TYW5,UBE2E3,UBE2F,UBE2F-SCLY,UBR3,UBXN4,UGGT1,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9,UNC50,UNC80,UPP2,USP37,USP40,UXS1,VIL1,VWA3B,VWC2L,VWC2L-IT1,WASH2P,WDFY1,WDR12,WDR33,WDR69,WDR75,WDSUB1,WIPF1,WNT10A,WNT6,WTH3DI,XIRP2,XRCC5,YSK4,ZAK,ZAP70,ZC3H15,ZC3H6,ZC3H8,ZDBF2,ZEB2,ZEB2-AS1,ZFAND2B,ZNF142,ZNF2,ZNF385B,ZNF514,ZNF804A,ZRANB3,ZSWIM2 chr2 93300000 96800000 Copy number Neuroblastoma FISH 18574593 ADRA2B,ANKRD20A8P,ASTL,FAHD2A,FAHD2CP,GPAT2,KCNIP3,LOC442028,LOC90499,MAL,MRPS5,PROM2,TEKT4,TRIM43,TRIM43B,ZNF2,ZNF514 chr2 9362018 9362355 Gain and loss Pancreatic cancer SNP array 17952125 ASAP2 chr2 936552 1350389 Gain and loss Pancreatic cancer SNP array 17952125 SNTG2 chr2 936552 1350392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNTG2 chr2 936552 1350392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNTG2 chr2 9432892 9466278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASAP2 chr2 9461055 9481094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASAP2 chr2 9461055 9481094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASAP2 chr2 94690055 95413528 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 NOT_FOUND chr2 94702751 96502966 LOH Normal High-resolution SNP genotyping 21211785 ANKRD20A8P,FAHD2A,KCNIP3,LOC442028,LOC90499,MAL,MRPS5,PROM2,TEKT4,TRIM43,TRIM43B,ZNF2,ZNF514 chr2 94702751 96529300 LOH Normal High-resolution SNP genotyping 21211785 ANKRD20A8P,FAHD2A,KCNIP3,LOC442028,LOC90499,MAL,MRPS5,PROM2,TEKT4,TRIM43,TRIM43B,ZNF2,ZNF514 chr2 94702751 96555649 LOH Normal High-resolution SNP genotyping 21211785 ANKRD20A8P,FAHD2A,KCNIP3,LOC442028,LOC90499,MAL,MRPS5,PROM2,TEKT4,TRIM43,TRIM43B,ZNF2,ZNF514 chr2 94702751 96959377 LOH Normal High-resolution SNP genotyping 21211785 ADRA2B,ANKRD20A8P,ASTL,CIAO1,DUSP2,FAHD2A,FAHD2CP,GPAT2,KCNIP3,LOC285033,LOC442028,LOC90499,MAL,MRPS5,PROM2,SNRNP200,STARD7,TEKT4,TMEM127,TRIM43,TRIM43B,ZNF2,ZNF514 chr2 94702751 97220866 LOH Normal High-resolution SNP genotyping 21211785 ADRA2B,ANKRD20A8P,ARID5A,ASTL,CIAO1,DUSP2,FAHD2A,FAHD2CP,GPAT2,ITPRIPL1,KCNIP3,LOC285033,LOC442028,LOC90499,MAL,MRPS5,NCAPH,NEURL3,PROM2,SNRNP200,STARD7,TEKT4,TMEM127,TRIM43,TRIM43B,ZNF2,ZNF514 chr2 94702751 97225036 LOH Normal High-resolution SNP genotyping 21211785 ADRA2B,ANKRD20A8P,ARID5A,ASTL,CIAO1,DUSP2,FAHD2A,FAHD2CP,GPAT2,ITPRIPL1,KCNIP3,LOC285033,LOC442028,LOC90499,MAL,MRPS5,NCAPH,NEURL3,PROM2,SNRNP200,STARD7,TEKT4,TMEM127,TRIM43,TRIM43B,ZNF2,ZNF514 chr2 94766809 94767690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94789501 94794000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 94794001 94816500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 9481244 9530678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASAP2 chr2 9481244 9530678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASAP2 chr2 94816501 94819500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 94824971 94825837 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 94825277 94835923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94840283 95041982 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr2 94840534 94847273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94840534 94847273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94848547 94910694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 94874856 94886721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94874856 94886721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94876005 94876111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94886501 94888000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 94898501 94910500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 94900959 94906295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94900959 94906295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94910501 94925000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 94930248 94930305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94930341 94930409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94931078 94931138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 94933012 94964765 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 94934153 94934258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 94959052 94964442 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 9496421 9514233 Gain and loss Pancreatic cancer SNP array 17952125 ASAP2 chr2 94988395 94988452 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 94988488 94988556 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 94989225 94989285 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 9499544 9544262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASAP2 chr2 95009501 95092000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95033017 95033315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95033019 95033315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95039441 95084204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 95055156 95083462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95055156 95083462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95091164 95091462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95094701 95099193 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 95110968 151785533 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ACMSD,ACOXL,ACTR1B,ACTR3,ACVR2A,ADRA2B,AFF3,AMMECR1L,ANAPC1,ANKRD20A8P,ANKRD23,ANKRD30BL,ANKRD36,ANKRD36B,ANKRD39,ARHGAP15,ARHGEF4,ARID5A,ASTL,BCL2L11,BIN1,BUB1,C1QL2,C2orf15,C2orf27A,C2orf27B,C2orf29,C2orf40,C2orf49,C2orf76,CBWD2,CCDC115,CCDC138,CCDC74A,CCDC74B,CCDC74B-AS1,CCDC93,CCNT2,CFC1,CFC1B,CHCHD5,CHST10,CIAO1,CKAP2L,CLASP1,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COX5B,CREG2,CXCR4,CYP27C1,CYP4F30P,DARS,DBI,DDX11L2,DDX18,DKFZp686O1327,DPP10,DUSP2,EDAR,EIF5B,EN1,EPB41L5,EPC2,ERCC3,FAHD2A,FAHD2B,FAHD2CP,FAM123C,FAM138B,FAM168B,FAM178B,FBLN7,FER1L5,FHL2,FLJ42351,FOXD4L1,GCC2,GLI2,GPAT2,GPR148,GPR17,GPR39,GPR45,GTDC1,GYPC,HNMT,HS6ST1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,IMP4,INHBB,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCNIP3,KIAA1211L,KIF5C,KYNU,LCT,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LMAN2L,LOC100129961,LOC100131320,LOC100216479,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC100507600,LOC150568,LOC150776,LOC151009,LOC254128,LOC284998,LOC285000,LOC285033,LOC389023,LOC389033,LOC389043,LOC401010,LOC440894,LOC440895,LOC440900,LOC440905,LOC440910,LOC442028,LOC541471,LOC646743,LOC647012,LOC654433,LOC728537,LOC729121,LOC84931,LOC90499,LONRF2,LRP1B,LYG1,LYG2,LYPD1,LYPD6,LYPD6B,MAL,MALL,MAP3K2,MAP4K4,MARCO,MBD5,MCM6,MERTK,MFSD9,MGAT4A,MGAT5,MIR128-1,MIR3127,MIR3679,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4782,MIR4783,MIR4784,MIR5696,MIR663B,MITD1,MKI67IP,MMADHC,MRPL30,MRPS5,MRPS9,MYO7B,MZT2A,MZT2B,NCAPH,NCK2,NCKAP5,NEURL3,NMS,NPAS2,NPHP1,NXPH2,ORC4,PABPC1P2,PAX8,PCDP1,PDCL3,PLEKHB2,PLGLA,POLR1B,POLR2D,POTEE,POTEF,POU3F3,PROC,PROM2,PSD4,PTPN18,PTPN4,R3HDM1,RAB3GAP1,RAB6C,RABL2A,RALB,RANBP2,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RND3,RNF149,RNU4ATAC,RNU6-81,RPL23AP7,RPL31,SAP130,SCTR,SEMA4C,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SMPD4,SNORD89,SNRNP200,SOWAHC,SPOPL,ST6GAL2,STARD7,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TEKT4,TFCP2L1,TGFBRAP1,THSD7B,TISP43,TMEM127,TMEM131,TMEM163,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TRIM43,TRIM43B,TSGA10,TSN,TTL,TUBA3D,TUBA3E,TXNDC9,UBXN4,UGGT1,UNC50,UXS1,VWA3B,WASH2P,WDR33,WTH3DI,YSK4,ZAP70,ZC3H6,ZC3H8,ZEB2,ZEB2-AS1,ZNF2,ZNF514,ZRANB3 chr2 95113303 95141609 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95116680 95151481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95116680 95151481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 9514391 9563825 Gain and loss Pancreatic cancer SNP array 17952125 ASAP2,ITGB1BP1 chr2 95159338 95228560 Duplication Autism Array CGH 22102821 NOT_FOUND chr2 95174827 95209628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95177126 95188990 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 95177127 95188990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95177127 95188990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95194909 95213791 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 95194910 95213792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95194910 95213792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95235274 95247137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95253057 95270595 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95296501 95360000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95303928 95320781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95303928 95320781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 9532116 9546201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASAP2,ITGB1BP1 chr2 9532116 9546201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASAP2,ITGB1BP1 chr2 95326799 95415551 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 95326799 95415551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95326799 95415551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95330000 103470000 Loss Breast cancer aCGH 21509527 ACTR1B,ADRA2B,AFF3,ANKRD20A8P,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,C2orf15,C2orf29,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EIF5B,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,GPAT2,IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,LIPT1,LMAN2L,LOC100506123,LOC285033,LOC442028,LOC728537,LOC90499,LONRF2,LYG1,LYG2,MAL,MAP4K4,MFSD9,MGAT4A,MIR3127,MIR4772,MIR5696,MITD1,MRPL30,MRPS5,NCAPH,NEURL3,NMS,NPAS2,PDCL3,PROM2,REV1,RFX8,RNF149,RPL31,SEMA4C,SLC9A2,SLC9A4,SNORD89,SNRNP200,STARD7,TBC1D8,TEKT4,TMEM127,TMEM131,TMEM182,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,VWA3B,ZAP70,ZNF2,ZNF514 chr2 95360001 95361500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95361501 95373000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95362075 95378928 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95373001 95376500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95376501 95381000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95381001 95403500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95384967 95473701 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD20A8P,LOC90499 chr2 95392012 95574433 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD20A8P,LOC442028,LOC90499,TEKT4 chr2 95403501 95421500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC90499 chr2 95421501 95781000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD20A8P,LOC442028,LOC90499,MAL,MRPS5,TEKT4 chr2 95432175 95442606 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD20A8P chr2 95432203 95442605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A8P chr2 95432203 95442605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A8P chr2 9545014 9545114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASAP2 chr2 9546861 9613368 Gain or loss Breast cancer - 20668451 CPSF3,ITGB1BP1 chr2 9546861 9613368 Gain or loss Cancer - 20668451 CPSF3,ITGB1BP1 chr2 9546861 9613368 Gain or loss Lung cancer - 20668451 CPSF3,ITGB1BP1 chr2 9546861 9613368 Gain or loss Ovarian cancer - 20668451 CPSF3,ITGB1BP1 chr2 9546861 9613368 Gain or loss Pancreas cancer - 20668451 CPSF3,ITGB1BP1 chr2 9546861 9613368 Gain or loss Prostate cancer - 20668451 CPSF3,ITGB1BP1 chr2 9546864 9613368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPSF3,ITGB1BP1 chr2 9546864 9613368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPSF3,ITGB1BP1 chr2 95475638 95486567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD20A8P chr2 95475638 95486567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A8P chr2 95490322 95500753 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD20A8P chr2 95506639 95514212 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ANKRD20A8P chr2 95506639 95514212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A8P chr2 95506639 95514212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD20A8P chr2 95538671 95539117 Gain and loss Pancreatic cancer SNP array 17952125 LOC442028,TEKT4 chr2 95564786 95572359 Gain and loss Pancreatic cancer SNP array 17952125 LOC442028 chr2 95575297 95577063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC442028 chr2 95575297 95577063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC442028 chr2 95580921 95580992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC442028 chr2 95616767 95617306 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95621493 95629194 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 95621493 95629194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95621493 95629194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95633444 95635210 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95639068 95639139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95649119 95660048 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 95649119 95660048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95649119 95660048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 9565264 9580453 Gain and loss Pancreatic cancer SNP array 17952125 CPSF3 chr2 95662727 95662827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 95679640 95687341 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95697351 106347687 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTR1B,ADRA2B,AFF3,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,C2orf15,C2orf29,C2orf49,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EIF5B,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,FHL2,GPAT2,GPR45,IL18R1,IL18RAP,IL1R1,IL1R2,IL1RL1,IL1RL2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,LIPT1,LMAN2L,LOC100287010,LOC100506123,LOC100506421,LOC150568,LOC284998,LOC285000,LOC285033,LOC728537,LONRF2,LYG1,LYG2,MAL,MAP4K4,MFSD9,MGAT4A,MIR3127,MIR4772,MIR5696,MITD1,MRPL30,MRPS5,MRPS9,NCAPH,NEURL3,NMS,NPAS2,PDCL3,POU3F3,PROM2,REV1,RFX8,RNF149,RPL31,SEMA4C,SLC9A2,SLC9A4,SNORD89,SNRNP200,STARD7,TBC1D8,TGFBRAP1,TMEM127,TMEM131,TMEM182,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,VWA3B,ZAP70,ZNF2,ZNF514 chr2 95700000 102100000 Amplification Ovarian clear cell carcinoma FISH 19293255 ACTR1B,ADRA2B,AFF3,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,C2orf15,C2orf29,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EIF5B,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,GPAT2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,LIPT1,LMAN2L,LOC100506123,LOC285033,LOC728537,LONRF2,LYG1,LYG2,MAL,MGAT4A,MIR3127,MIR5696,MITD1,MRPL30,MRPS5,NCAPH,NEURL3,NMS,NPAS2,PDCL3,PROM2,REV1,RFX8,RNF149,RPL31,SEMA4C,SNORD89,SNRNP200,STARD7,TBC1D8,TMEM127,TMEM131,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,VWA3B,ZAP70,ZNF2,ZNF514 chr2 95700000 102100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR1B,ADRA2B,AFF3,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,C2orf15,C2orf29,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EIF5B,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,GPAT2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,LIPT1,LMAN2L,LOC100506123,LOC285033,LOC728537,LONRF2,LYG1,LYG2,MAL,MGAT4A,MIR3127,MIR5696,MITD1,MRPL30,MRPS5,NCAPH,NEURL3,NMS,NPAS2,PDCL3,PROM2,REV1,RFX8,RNF149,RPL31,SEMA4C,SNORD89,SNRNP200,STARD7,TBC1D8,TMEM127,TMEM131,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,VWA3B,ZAP70,ZNF2,ZNF514 chr2 95700000 102100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTR1B,ADRA2B,AFF3,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,C2orf15,C2orf29,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EIF5B,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,GPAT2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,LIPT1,LMAN2L,LOC100506123,LOC285033,LOC728537,LONRF2,LYG1,LYG2,MAL,MGAT4A,MIR3127,MIR5696,MITD1,MRPL30,MRPS5,NCAPH,NEURL3,NMS,NPAS2,PDCL3,PROM2,REV1,RFX8,RNF149,RPL31,SEMA4C,SNORD89,SNRNP200,STARD7,TBC1D8,TMEM127,TMEM131,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,VWA3B,ZAP70,ZNF2,ZNF514 chr2 95700000 102100000 Duplication Intellectual disability - 22045946 ACTR1B,ADRA2B,AFF3,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,C2orf15,C2orf29,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EIF5B,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,GPAT2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,LIPT1,LMAN2L,LOC100506123,LOC285033,LOC728537,LONRF2,LYG1,LYG2,MAL,MGAT4A,MIR3127,MIR5696,MITD1,MRPL30,MRPS5,NCAPH,NEURL3,NMS,NPAS2,PDCL3,PROM2,REV1,RFX8,RNF149,RPL31,SEMA4C,SNORD89,SNRNP200,STARD7,TBC1D8,TMEM127,TMEM131,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,VWA3B,ZAP70,ZNF2,ZNF514 chr2 95700000 129600000 Gain Glioblastoma multiforme aCGH 21080181 ACOXL,ACTR1B,ACTR3,ADRA2B,AFF3,AMMECR1L,ANAPC1,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,BCL2L11,BIN1,BUB1,C1QL2,C2orf15,C2orf29,C2orf40,C2orf49,C2orf76,CBWD2,CCDC138,CCDC93,CHCHD5,CHST10,CIAO1,CKAP2L,CLASP1,CNGA3,CNNM3,CNNM4,CNTNAP5,COA5,COX5B,CREG2,CYP27C1,DBI,DDX11L2,DDX18,DPP10,DUSP2,EDAR,EIF5B,EN1,EPB41L5,ERCC3,FAHD2A,FAHD2B,FAHD2CP,FAM138B,FAM178B,FBLN7,FER1L5,FHL2,FLJ42351,FOXD4L1,GCC2,GLI2,GPAT2,GPR17,GPR45,GYPC,HS6ST1,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,INHBB,INPP4A,INSIG2,ITPRIPL1,IWS1,KANSL3,KCNIP3,KIAA1211L,LIMS1,LIMS2,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LMAN2L,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC150568,LOC151009,LOC254128,LOC284998,LOC285000,LOC285033,LOC389023,LOC440894,LOC440895,LOC440900,LOC541471,LOC654433,LOC728537,LOC729121,LOC84931,LONRF2,LYG1,LYG2,MAL,MALL,MAP3K2,MAP4K4,MARCO,MERTK,MFSD9,MGAT4A,MIR3127,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4782,MIR4783,MIR5696,MITD1,MKI67IP,MRPL30,MRPS5,MRPS9,MYO7B,NCAPH,NCK2,NEURL3,NMS,NPAS2,NPHP1,PAX8,PCDP1,PDCL3,PLGLA,POLR1B,POLR2D,POU3F3,PROC,PROM2,PSD4,PTPN4,RABL2A,RALB,RANBP2,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RNF149,RNU4ATAC,RPL23AP7,RPL31,SAP130,SCTR,SEMA4C,SEPT10,SFT2D3,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SNORD89,SNRNP200,SOWAHC,ST6GAL2,STARD7,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TFCP2L1,TGFBRAP1,TMEM127,TMEM131,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TRIM43,TRIM43B,TSGA10,TSN,TTL,TXNDC9,UGGT1,UNC50,UXS1,VWA3B,WASH2P,WDR33,ZAP70,ZC3H6,ZC3H8,ZNF2,ZNF514 chr2 95712863 95713309 Gain and loss Pancreatic cancer SNP array 17952125 MAL chr2 9573 14779608 Copy number Lung cancer paired-end sequencing 18438408 ACP1,ADAM17,ADI1,ALLC,ASAP2,ATP6V1C2,C2orf48,C2orf50,CMPK2,COLEC11,CPSF3,CYS1,E2F6,FAM110C,FAM150B,FAM84A,FLJ33534,GREB1,GRHL1,HPCAL1,IAH1,ID2,ITGB1BP1,KCNF1,KIDINS220,KLF11,LINC00299,LINC00487,LINC00570,LOC100505964,LOC100506054,LOC100506274,LOC100506474,LOC150622,LOC339788,LOC339822,LOC400940,LOC727982,LOC730811,LPIN1,MBOAT2,MIR3125,MIR4261,MIR4262,MIR4429,MYT1L,NOL10,NTSR2,ODC1,PDIA6,PQLC3,PXDN,RNASEH1,RNF144A,RNF144A-AS1,ROCK2,RPS7,RRM2,RSAD2,SH3YL1,SNORA80B,SNTG2,SOX11,TAF1B,TMEM18,TPO,TRAPPC12,TRIB2,TSSC1,YWHAQ chr2 95743093 95743153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 95781001 95829500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MRPS5,ZNF514 chr2 9580011 9646496 Gain and loss Pancreatic cancer SNP array 17952125 ADAM17,CPSF3,IAH1 chr2 95817204 95817313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF514 chr2 95829501 95861500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF2 chr2 95861501 95865000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95865001 95867500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95868247 95884852 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr2 95868247 95884852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 95879317 95891567 Gain Normal aCGH 21627829 NOT_FOUND chr2 95879842 95887789 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95881001 95890500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 95891581 95909217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 9589824 9589925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPSF3 chr2 95904001 95904381 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 95905442 95956704 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PROM2 chr2 95905442 95956704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PROM2 chr2 95905442 95956704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PROM2 chr2 95914287 95914354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 95920350 95943460 Loss Normal aCGH 21627829 PROM2 chr2 95922331 96069436 Copy number Lung cancer paired-end sequencing 18438408 FAHD2A,KCNIP3,PROM2 chr2 95933553 95933631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 95936551 95943253 Gain and loss Pancreatic cancer SNP array 17952125 PROM2 chr2 95942937 95943036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROM2 chr2 95943630 95984958 Gain and loss Pancreatic cancer SNP array 17952125 KCNIP3,PROM2 chr2 95952001 95986500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNIP3,PROM2 chr2 95954453 95954526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROM2 chr2 95954683 96352638 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 FAHD2A,KCNIP3,PROM2,TRIM43,TRIM43B chr2 95955189 95987142 Gain Normal aCGH 21627829 KCNIP3,PROM2 chr2 95955189 96011581 Gain Normal aCGH 21627829 KCNIP3,PROM2 chr2 95965148 95965222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP3 chr2 95973364 95991506 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP3 chr2 95973677 95973777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP3 chr2 95979316 96079518 Gain and loss Pancreatic cancer SNP array 17952125 FAHD2A,KCNIP3 chr2 95981251 95981351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP3 chr2 96010143 96021306 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNIP3 chr2 96014562 96054628 Duplication Schizophrenia NimbleGen HD2 platform 21346763 KCNIP3 chr2 96016311 96016355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP3 chr2 96017751 96051500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KCNIP3 chr2 96024027 102842030 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ACTR1B,ADRA2B,AFF3,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,C2orf15,C2orf29,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DUSP2,EIF5B,FAHD2A,FAHD2B,FAHD2CP,FAM178B,FER1L5,GPAT2,IL1R1,IL1R2,IL1RL2,INPP4A,ITPRIPL1,KANSL3,KCNIP3,KIAA1211L,LIPT1,LMAN2L,LOC100506123,LOC285033,LOC728537,LONRF2,LYG1,LYG2,MAP4K4,MGAT4A,MIR3127,MIR5696,MITD1,MRPL30,NCAPH,NEURL3,NMS,NPAS2,PDCL3,REV1,RFX8,RNF149,RPL31,SEMA4C,SNORD89,SNRNP200,STARD7,TBC1D8,TMEM127,TMEM131,TRIM43,TRIM43B,TSGA10,TXNDC9,UNC50,VWA3B,ZAP70 chr2 96034038 96034321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNIP3 chr2 96034040 96034328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNIP3 chr2 96047515 96047556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP3 chr2 96051422 96064454 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNIP3 chr2 96051422 96064454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNIP3 chr2 96051422 96064454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNIP3 chr2 96051501 96069750 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAHD2A,KCNIP3 chr2 96054456 96054556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 96057158 96057258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 96069751 96128000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAHD2A chr2 96092185 96092468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96101352 96109282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96109569 96122537 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96111786 97032304 Copy number Lung cancer paired-end sequencing 18438408 ADRA2B,ASTL,CIAO1,DUSP2,FAHD2CP,GPAT2,ITPRIPL1,LOC285033,NCAPH,SNRNP200,STARD7,TMEM127,TRIM43,TRIM43B chr2 96121000 96151000 Duplication Non-syndromic sensorineural hearing loss References 19212409 TRIM43B chr2 96128001 96188500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIM43B chr2 96142434 96145711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM43B chr2 96142434 96145711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM43B chr2 96153316 96167902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96153316 96167902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96172634 96174906 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 96172634 96174906 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 96172634 96174906 Gain or loss Cancer - 20668451 NOT_FOUND chr2 96172634 96174906 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 96172634 96174906 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 96172634 96174906 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 96172634 96174906 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 96172644 96174906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96172644 96174906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96188501 96531000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIM43 chr2 96194799 96206984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 96202419 96203762 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96206808 96258386 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 TRIM43 chr2 96211463 96226049 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96214324 96238283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96214324 96238283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 9622971 9623072 Gain and loss Pancreatic cancer SNP array 17952125 IAH1 chr2 96230779 96233053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96238409 96272086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM43 chr2 96238409 96272086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM43 chr2 96272479 96296437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96280041 96295459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96280041 96295459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96295611 96303619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96295611 96303619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96303804 96334988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96303804 96334988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96338188 96353606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96353758 96361766 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96355671 96357817 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 96355688 96357806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96355688 96357806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96361949 96393158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96365210 96405001 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr2 96365211 96405001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96365211 96405001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96403157 96403442 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 96413835 96415940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 9641552 9688557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM17 chr2 9641552 9688557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM17 chr2 9641556 9688557 Gain or loss Breast cancer - 20668451 ADAM17 chr2 9641556 9688557 Gain or loss Cancer - 20668451 ADAM17 chr2 9641556 9688557 Gain or loss Lung cancer - 20668451 ADAM17 chr2 9641556 9688557 Gain or loss Ovarian cancer - 20668451 ADAM17 chr2 9641556 9688557 Gain or loss Pancreas cancer - 20668451 ADAM17 chr2 9641556 9688557 Gain or loss Prostate cancer - 20668451 ADAM17 chr2 96423365 96461451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96527112 96534809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96527112 96534809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96531001 96533500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 96533501 96579000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 96566185 96582097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96566185 96582097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96577949 96608888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 96579001 96584500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 96585259 96595720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96622666 96667810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96622666 96667810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96624383 96640244 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96624891 96630260 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr2 96672201 96684362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAHD2CP chr2 96680791 96725957 Gain and loss Pancreatic cancer SNP array 17952125 FAHD2CP,GPAT2 chr2 96692465 101253051 Gain Glioblastoma multiforme 244K oligo array 21138945 ACTR1B,ADRA2B,AFF3,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,C2orf15,CHST10,CIAO1,CNGA3,CNNM3,CNNM4,COA5,COX5B,DUSP2,EIF5B,FAHD2B,FAM178B,FER1L5,GPAT2,INPP4A,ITPRIPL1,KANSL3,KIAA1211L,LIPT1,LMAN2L,LOC100506123,LOC285033,LOC728537,LONRF2,LYG1,LYG2,MGAT4A,MIR3127,MITD1,MRPL30,NCAPH,NEURL3,NMS,PDCL3,REV1,SEMA4C,SNRNP200,STARD7,TMEM127,TMEM131,TSGA10,TXNDC9,UNC50,VWA3B,ZAP70 chr2 96701518 98224741 LOH Normal affymetrix human mapping single-nucleotide polymorphism array 20944671 ADRA2B,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,CIAO1,CNNM3,CNNM4,DUSP2,FAHD2B,FAM178B,FER1L5,ITPRIPL1,KANSL3,LMAN2L,LOC100506123,LOC285033,MIR3127,NCAPH,NEURL3,SEMA4C,SNRNP200,STARD7,TMEM127 chr2 96713501 96729000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 96724997 96734346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96724997 96734346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 9672847 9672953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM17 chr2 96729001 96886500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADRA2B,ASTL,DUSP2,LOC285033,STARD7 chr2 96730348 96742509 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 96735396 96769528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96735396 96769528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 9674704 9721704 Gain and loss Pancreatic cancer SNP array 17952125 ADAM17 chr2 96757751 96792490 Gain and loss Pancreatic cancer SNP array 17952125 ADRA2B,ASTL chr2 96766314 96766393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 96780850 96780905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADRA2B chr2 96787899 97172125 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ASTL,CIAO1,DUSP2,ITPRIPL1,LOC285033,NCAPH,NEURL3,SNRNP200,STARD7,TMEM127 chr2 96790366 96841351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASTL,DUSP2 chr2 96790366 96841351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASTL,DUSP2 chr2 96793543 96827675 Gain and loss Pancreatic cancer SNP array 17952125 ASTL,DUSP2 chr2 96800000 114400000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ACOXL,ACTR1B,AFF3,ANAPC1,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,ASTL,BCL2L11,BUB1,C2orf15,C2orf29,C2orf40,C2orf49,CBWD2,CCDC138,CHCHD5,CHST10,CIAO1,CKAP2L,CNGA3,CNNM3,CNNM4,COA5,COX5B,CREG2,DDX11L2,DUSP2,EDAR,EIF5B,FAHD2B,FAM138B,FAM178B,FBLN7,FER1L5,FHL2,FLJ42351,FOXD4L1,GCC2,GPR45,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,INPP4A,ITPRIPL1,KANSL3,KIAA1211L,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LMAN2L,LOC100287010,LOC100288570,LOC100506123,LOC100506421,LOC100507334,LOC150568,LOC151009,LOC284998,LOC285000,LOC285033,LOC440894,LOC440895,LOC541471,LOC654433,LOC728537,LOC729121,LONRF2,LYG1,LYG2,MALL,MAP4K4,MERTK,MFSD9,MGAT4A,MIR3127,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR5696,MITD1,MRPL30,MRPS9,NCAPH,NCK2,NEURL3,NMS,NPAS2,NPHP1,PAX8,PDCL3,PLGLA,POLR1B,POU3F3,PSD4,RABL2A,RANBP2,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RNF149,RPL23AP7,RPL31,SEMA4C,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC5A7,SLC9A2,SLC9A4,SNORD89,SNRNP200,SOWAHC,ST6GAL2,STARD7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TGFBRAP1,TMEM127,TMEM131,TMEM182,TMEM87B,TSGA10,TTL,TXNDC9,UNC50,UXS1,VWA3B,WASH2P,ZAP70,ZC3H6,ZC3H8 chr2 96829855 96829955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 9683596 9683676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM17 chr2 96845718 96864848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STARD7 chr2 96845718 96864848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STARD7 chr2 96848513 96899498 Gain and loss Pancreatic cancer SNP array 17952125 LOC285033,STARD7 chr2 96867379 96873485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STARD7 chr2 96867379 96873485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STARD7 chr2 96877505 96887475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC285033 chr2 96877505 96887475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC285033 chr2 96886501 96915000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC285033 chr2 96889201 96899462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC285033 chr2 96889201 96899462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC285033 chr2 96903865 96921504 Gain and loss Pancreatic cancer SNP array 17952125 LOC285033,TMEM127 chr2 96905348 96927558 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LOC285033,TMEM127 chr2 96905350 97001446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIAO1,ITPRIPL1,LOC285033,SNRNP200,TMEM127 chr2 96905350 97001446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIAO1,ITPRIPL1,LOC285033,SNRNP200,TMEM127 chr2 96915001 96978000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CIAO1,SNRNP200,TMEM127 chr2 96925526 96931632 Gain and loss Pancreatic cancer SNP array 17952125 TMEM127 chr2 96935652 96945622 Gain and loss Pancreatic cancer SNP array 17952125 CIAO1,SNRNP200 chr2 96947353 96957582 Gain and loss Pancreatic cancer SNP array 17952125 SNRNP200 chr2 96959145 96959223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRNP200 chr2 96959377 97629274 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD23,ANKRD39,ARID5A,CNNM3,CNNM4,FAM178B,FER1L5,ITPRIPL1,KANSL3,LMAN2L,MIR3127,NCAPH,NEURL3,SEMA4C,SNRNP200 chr2 96963497 97059593 Gain and loss Pancreatic cancer SNP array 17952125 ITPRIPL1,NCAPH,SNRNP200 chr2 96970751 96970824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRNP200 chr2 96978001 96981000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 96981001 97003000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITPRIPL1,NCAPH chr2 96985627 98377877 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-376K arrays 21546498 ACTR1B,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,ARID5A,CNNM3,CNNM4,COX5B,FAHD2B,FAM178B,FER1L5,ITPRIPL1,KANSL3,LMAN2L,LOC100506123,LOC728537,MIR3127,NCAPH,NEURL3,SEMA4C,TMEM131,ZAP70 chr2 96986190 96986279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 96992983 97492237 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 ARID5A,CNNM3,CNNM4,FER1L5,ITPRIPL1,KANSL3,LMAN2L,MIR3127,NCAPH,NEURL3 chr2 96992983 97492237 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARID5A,CNNM3,CNNM4,FER1L5,ITPRIPL1,KANSL3,LMAN2L,MIR3127,NCAPH,NEURL3 chr2 97010748 97010848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NCAPH chr2 97019047 97631119 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD23,ANKRD39,ARID5A,CNNM3,CNNM4,FAM178B,FER1L5,KANSL3,LMAN2L,MIR3127,NCAPH,NEURL3,SEMA4C chr2 97020588 97024070 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NCAPH chr2 97038362 97065849 Loss or gain Normal 244K array 17666407 NCAPH chr2 97044337 97044426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97055439 97061098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97055439 97061098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 9705994 9706098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97063768 97445461 Copy number Lung cancer paired-end sequencing 18438408 ARID5A,CNNM4,FER1L5,KANSL3,LMAN2L,NEURL3 chr2 97068895 97068995 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97075615 97089841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97084347 97604253 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD23,ANKRD39,ARID5A,CNNM3,CNNM4,FAM178B,FER1L5,KANSL3,LMAN2L,MIR3127,NEURL3,SEMA4C chr2 97091070 97606273 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD23,ANKRD39,ARID5A,CNNM3,CNNM4,FAM178B,FER1L5,KANSL3,LMAN2L,MIR3127,NEURL3,SEMA4C chr2 97094848 97221642 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ARID5A,NEURL3 chr2 97094860 97194115 Gain Normal Birdsuite, version 1.5.2 22087296 NEURL3 chr2 97100164 97388399 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARID5A,FER1L5,KANSL3,LMAN2L,NEURL3 chr2 97100164 97388399 Copy number loss Normal High-resolution SNP genotyping 21211785 ARID5A,FER1L5,KANSL3,LMAN2L,NEURL3 chr2 97100164 97432959 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARID5A,CNNM4,FER1L5,KANSL3,LMAN2L,NEURL3 chr2 97100164 97432959 Copy number loss Normal High-resolution SNP genotyping 21211785 ARID5A,CNNM4,FER1L5,KANSL3,LMAN2L,NEURL3 chr2 97111057 97112112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97111057 97112112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97112914 97303968 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARID5A,KANSL3,NEURL3 chr2 97112914 97342494 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARID5A,FER1L5,KANSL3,NEURL3 chr2 97113051 97124309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97113051 97124309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97113586 97119245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97130055 97130338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97133762 97138637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97142001 97144000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 97142959 97279633 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ARID5A,KANSL3,NEURL3 chr2 97143121 97229827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARID5A,NEURL3 chr2 97143121 97229827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARID5A,NEURL3 chr2 97152852 97342494 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ARID5A,FER1L5,KANSL3,NEURL3 chr2 97168711 97170870 Gain and loss Pancreatic cancer SNP array 17952125 NEURL3 chr2 97171198 97182456 Gain and loss Pancreatic cancer SNP array 17952125 NEURL3 chr2 97175459 97478937 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ARID5A,CNNM4,FER1L5,KANSL3,LMAN2L,MIR3127 chr2 97188202 97188485 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97194115 97210579 Gain or loss Normal Birdsuite, version 1.5.2 22087296 ARID5A chr2 97197797 97240888 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARID5A chr2 97201107 97206440 Gain and loss Pancreatic cancer SNP array 17952125 ARID5A chr2 97204666 97211518 Loss Normal 244K array 17666407 ARID5A chr2 97210579 97210580 Gain Normal Birdsuite, version 1.5.2 22087296 ARID5A chr2 97210580 97250052 Gain Normal Birdsuite, version 1.5.2 22087296 ARID5A chr2 97220866 97641500 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,FER1L5,KANSL3,LMAN2L,MIR3127,SEMA4C chr2 97225036 97241261 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr2 97229917 97273331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANSL3 chr2 97229917 97273331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL3 chr2 97240277 97240339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 97241261 98550388 LOH Normal High-resolution SNP genotyping 21211785 ACTR1B,ANKRD23,ANKRD36,ANKRD36B,ANKRD39,CNNM3,CNNM4,COX5B,FAHD2B,FAM178B,FER1L5,KANSL3,LMAN2L,LOC100506123,LOC728537,MIR3127,SEMA4C,TMEM131,ZAP70 chr2 97250052 97391786 Gain Normal Birdsuite, version 1.5.2 22087296 FER1L5,KANSL3,LMAN2L chr2 97274707 97279622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KANSL3 chr2 97274707 97279622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KANSL3 chr2 97282123 97652667 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,FER1L5,KANSL3,LMAN2L,MIR3127,SEMA4C chr2 97301002 97340010 Gain and loss Pancreatic cancer SNP array 17952125 FER1L5,KANSL3 chr2 97305870 97492237 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CNNM3,CNNM4,FER1L5,LMAN2L,MIR3127 chr2 97305870 97795025 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD23,ANKRD36,ANKRD39,CNNM3,CNNM4,FAHD2B,FAM178B,FER1L5,LMAN2L,MIR3127,SEMA4C chr2 97427939 97428039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNNM4 chr2 97455136 97459575 Gain and loss Pancreatic cancer SNP array 17952125 CNNM4 chr2 9747001 9809000 Copy number Normal ReadDepth: A Parallel R Package 21305028 YWHAQ chr2 97475423 97553722 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,SEMA4C chr2 97475423 97556569 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,SEMA4C chr2 97475435 97484560 Loss Normal Birdsuite, version 1.5.2 22087296 CNNM3,CNNM4 chr2 97475562 97572761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,SEMA4C chr2 97475562 97572761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,SEMA4C chr2 97479975 97483223 Gain Normal 244K array 17666407 CNNM3 chr2 97484560 97507179 Loss Normal Birdsuite, version 1.5.2 22087296 ANKRD23,CNNM3 chr2 97484633 97533297 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ANKRD23,ANKRD39,CNNM3,SEMA4C chr2 97496145 97500584 Gain and loss Pancreatic cancer SNP array 17952125 CNNM3 chr2 97496161 97498919 Loss Autism 1M Ailent CGH whole-genome array 21865298 CNNM3 chr2 97503501 97528500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD23,ANKRD39,SEMA4C chr2 97507179 97528142 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ANKRD23,ANKRD39,SEMA4C chr2 97507179 97528142 Loss Normal Birdsuite, version 1.5.2 22087296 ANKRD23,ANKRD39,SEMA4C chr2 97528142 97528621 Loss Normal Birdsuite, version 1.5.2 22087296 SEMA4C chr2 97528621 97535038 Loss Normal Birdsuite, version 1.5.2 22087296 SEMA4C chr2 97549726 124630206 Copy number Lung cancer paired-end sequencing 18438408 ACOXL,ACTR1B,ACTR3,AFF3,ANAPC1,ANKRD36,ANKRD36B,BCL2L11,BUB1,C1QL2,C2orf15,C2orf29,C2orf40,C2orf49,C2orf76,CBWD2,CCDC138,CCDC93,CHCHD5,CHST10,CKAP2L,CLASP1,CNGA3,COA5,COX5B,CREG2,DBI,DDX11L2,DDX18,DPP10,EDAR,EIF5B,EN1,EPB41L5,FAHD2B,FAM138B,FAM178B,FBLN7,FHL2,FLJ42351,FOXD4L1,GCC2,GLI2,GPR45,IL18R1,IL18RAP,IL1A,IL1B,IL1F10,IL1R1,IL1R2,IL1RL1,IL1RL2,IL1RN,IL36A,IL36B,IL36G,IL36RN,IL37,INHBB,INPP4A,INSIG2,KIAA1211L,LIMS1,LIMS3,LIMS3-LOC440895,LIMS3L,LINC00116,LIPT1,LOC100287010,LOC100288570,LOC100499194,LOC100506123,LOC100506421,LOC100507334,LOC150568,LOC151009,LOC254128,LOC284998,LOC285000,LOC389023,LOC440894,LOC440895,LOC440900,LOC541471,LOC654433,LOC728537,LOC729121,LOC84931,LONRF2,LYG1,LYG2,MALL,MAP4K4,MARCO,MERTK,MFSD9,MGAT4A,MIR4265,MIR4266,MIR4267,MIR4435-1,MIR4435-2,MIR4436B1,MIR4436B2,MIR4772,MIR4782,MIR5696,MITD1,MKI67IP,MRPL30,MRPS9,NCK2,NMS,NPAS2,NPHP1,PAX8,PCDP1,PDCL3,PLGLA,POLR1B,POU3F3,PSD4,PTPN4,RABL2A,RALB,RANBP2,REV1,RFX8,RGPD3,RGPD4,RGPD5,RGPD6,RGPD8,RNF149,RNU4ATAC,RPL23AP7,RPL31,SCTR,SEPT10,SH3RF3,SH3RF3-AS1,SLC20A1,SLC35F5,SLC5A7,SLC9A2,SLC9A4,SNORD89,SOWAHC,ST6GAL2,STEAP3,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4,TBC1D8,TFCP2L1,TGFBRAP1,TMEM131,TMEM177,TMEM182,TMEM185B,TMEM37,TMEM87B,TSGA10,TSN,TTL,TXNDC9,UNC50,UXS1,VWA3B,WASH2P,ZAP70,ZC3H6,ZC3H8 chr2 97564600 97795025 Amplification Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 ANKRD36,FAHD2B,FAM178B chr2 97579782 97590781 Gain and loss Pancreatic cancer SNP array 17952125 FAM178B chr2 97584501 97596000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM178B chr2 97596001 97608250 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM178B chr2 97599749 97651071 Loss Normal 244K array 17666407 FAM178B chr2 97608251 97714500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM178B chr2 97622546 97664845 Gain and loss Pancreatic cancer SNP array 17952125 FAM178B chr2 97623619 97624405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM178B chr2 97623818 97637394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM178B chr2 97624208 97644652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM178B chr2 97628953 97631086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM178B chr2 97628953 97631086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM178B chr2 97638863 97646893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM178B chr2 97638863 97646893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM178B chr2 97647486 97647626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM178B chr2 97661348 97661448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 97696462 97722755 Gain or loss Breast cancer - 20668451 NOT_FOUND chr2 97696462 97722755 Gain or loss Cancer - 20668451 NOT_FOUND chr2 97696462 97722755 Gain or loss Lung cancer - 20668451 NOT_FOUND chr2 97696462 97722755 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr2 97696462 97722755 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr2 97696462 97722755 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr2 97696463 97722755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97696463 97722755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97714501 97723000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 97721039 97723172 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97723001 97725000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 97730953 97738979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97733974 97734028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 97739228 97978786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36,FAHD2B,LOC100506123 chr2 97739228 97978786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36,FAHD2B,LOC100506123 chr2 97739570 97739712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97739572 97739712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 97751740 97752135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAHD2B chr2 97769444 97803784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANKRD36 chr2 97775621 97799820 Gain Normal 244K array 17666407 ANKRD36 chr2 97778714 98195669 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD36,ANKRD36B,LOC100506123 chr2 97778714 98195669 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD36,ANKRD36B,LOC100506123 chr2 97785251 97788000 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ANKRD36 chr2 97788549 97814843 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD36 chr2 97810095 97811241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD36 chr2 97831321 97963103 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD36,LOC100506123 chr2 9784858 10661378 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-312K arrays 21546498 C2orf48,CYS1,GRHL1,HPCAL1,KLF11,MIR4261,ODC1,RRM2,SNORA80B,TAF1B chr2 97902229 97902531 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD36 chr2 97911211 97914302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD36 chr2 97953848 97987990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100506123 chr2 9798223 9798363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr2 97999365 97999601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 98033318 98064505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 98070027 98295841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACTR1B,ANKRD36B,COX5B,LOC100506123,LOC728537 chr2 98070027 98295841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR1B,ANKRD36B,COX5B,LOC100506123,LOC728537 chr2 9809001 9872500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr2 98100001 98997000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTR1B,ANKRD36B,CNGA3,COX5B,LOC728537,TMEM131,VWA3B,ZAP70 chr2 98162148 98387927 Gain and loss Pancreatic cancer SNP array 17952125 ACTR1B,ANKRD36B,COX5B,LOC728537,TMEM131,ZAP70 chr2 98222637 98253028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 9826128 9833250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 98279833 98279920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACTR1B chr2 9831367 9831510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 9831371 9831510 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 98314284 98316866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC728537 chr2 98329050 98381496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM131,ZAP70 chr2 98329050 98381496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM131,ZAP70 chr2 9833387 9833487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 98341016 98341106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZAP70 chr2 98363982 98364040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 98390595 98390672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM131 chr2 98427749 98573695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM131 chr2 98427749 98573695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM131 chr2 9842924 9846499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 98444918 98473575 Gain and loss Pancreatic cancer SNP array 17952125 TMEM131 chr2 98465630 98662640 Gain and loss Pancreatic cancer SNP array 17952125 TMEM131 chr2 98484727 98484827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM131 chr2 9851303 9851368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 98516505 98516605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM131 chr2 9854386 10033230 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 TAF1B chr2 98575452 98620708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM131 chr2 98581935 98582152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM131 chr2 98582150 98582250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM131 chr2 98582150 98582378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM131 chr2 98582298 98591410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM131 chr2 98582298 98591410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM131 chr2 98591472 98601410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM131 chr2 98591472 98601410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM131 chr2 98591473 98601409 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TMEM131 chr2 98602001 98714021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM131,VWA3B chr2 98602001 98714021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM131,VWA3B chr2 98602002 98646368 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TMEM131 chr2 98605742 98605831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM131 chr2 98637461 98637555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 98674384 98683473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 98683558 98693493 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 98700175 98801448 Gain and loss Pancreatic cancer SNP array 17952125 VWA3B chr2 9871400 9897336 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr2 9872881 10505097 Gain Bladder cancer array-CGH 21909424 C2orf48,CYS1,GRHL1,HPCAL1,KLF11,MIR4261,RRM2,TAF1B chr2 98747101 99637405 LOH Normal High-resolution SNP genotyping 21211785 CNGA3,COA5,INPP4A,KIAA1211L,MGAT4A,TSGA10,UNC50,VWA3B chr2 98755392 98800880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VWA3B chr2 98765305 98765443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA3B chr2 9876673 9877022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr2 98776741 98919116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VWA3B chr2 98776741 98919116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VWA3B chr2 98776927 98777027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWA3B chr2 9879696 9893071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr2 98800000 102000000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AFF3,C2orf15,C2orf29,CHST10,CNGA3,COA5,CREG2,EIF5B,INPP4A,KIAA1211L,LIPT1,LONRF2,LYG1,LYG2,MGAT4A,MIR5696,MITD1,MRPL30,NMS,NPAS2,PDCL3,REV1,RNF149,RPL31,SNORD89,TBC1D8,TSGA10,TXNDC9,UNC50,VWA3B chr2 98820631 98820731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWA3B chr2 98857391 98857529 Gain and loss Pancreatic cancer SNP array 17952125 VWA3B chr2 98857391 98857534 Gain and loss Pancreatic cancer SNP array 17952125 VWA3B chr2 98878735 98902410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VWA3B chr2 98881742 98910475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VWA3B chr2 9888600 9888808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 9888674 9888774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 98897413 99011196 Gain and loss Pancreatic cancer SNP array 17952125 CNGA3,VWA3B chr2 98905590 98905764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VWA3B chr2 9890887 9991994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAF1B chr2 9890887 9991994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAF1B chr2 98915656 98915716 Gain and loss Pancreatic cancer SNP array 17952125 VWA3B chr2 98980156 99137812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNGA3,INPP4A chr2 98980156 99137812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNGA3,INPP4A chr2 99052580 99097279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 INPP4A chr2 99072243 99229898 Gain and loss Pancreatic cancer SNP array 17952125 COA5,INPP4A,UNC50 chr2 99119397 99119729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP4A chr2 99124617 99134358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP4A chr2 99124617 99134358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP4A chr2 99137850 99146043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP4A chr2 99137850 99146043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP4A chr2 99137893 99180521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP4A chr2 99137893 99180521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP4A chr2 99152157 99163924 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 INPP4A chr2 99152160 99163945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP4A chr2 99152160 99163945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP4A chr2 99186625 99186672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP4A chr2 99208521 99208621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 99216703 99226444 Gain and loss Pancreatic cancer SNP array 17952125 COA5,UNC50 chr2 99225141 99238034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT4A,UNC50 chr2 99225141 99238034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4A,UNC50 chr2 99229936 99238129 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4A,UNC50 chr2 99244246 99256010 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4A chr2 99256096 99272414 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4A chr2 99267132 99284071 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MGAT4A chr2 99267134 99287637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT4A chr2 99267134 99287637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4A chr2 9928167 9935071 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr2 99287893 99287993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGAT4A chr2 9929068 10265469 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CYS1,GRHL1,KLF11,RRM2,TAF1B chr2 9929068 10500611 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf48,CYS1,GRHL1,HPCAL1,KLF11,MIR4261,RRM2,TAF1B chr2 99301918 99319292 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MGAT4A chr2 99301921 99323597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT4A chr2 99301921 99323597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4A chr2 99317235 99330088 Gain and loss Pancreatic cancer SNP array 17952125 MGAT4A chr2 99320265 99383160 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MGAT4A chr2 99320266 99383160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGAT4A chr2 99320266 99383160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGAT4A chr2 9934170 10025141 Gain and loss Pancreatic cancer SNP array 17952125 TAF1B chr2 99359241 99379723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr2 99383370 99472912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1211L chr2 99383370 99472912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1211L chr2 99394007 99411378 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1211L chr2 99412386 99474759 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1211L chr2 99420984 99421084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1211L chr2 99421590 100219699 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AFF3,C2orf15,EIF5B,KIAA1211L,LIPT1,LYG1,LYG2,MITD1,MRPL30,REV1,TSGA10,TXNDC9 chr2 99421590 99958847 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C2orf15,EIF5B,KIAA1211L,LIPT1,LYG1,LYG2,MITD1,MRPL30,TSGA10,TXNDC9 chr2 9943354 9943449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 99451866 99451959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1211L chr2 99457913 99457993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1211L chr2 99470146 99471451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1211L chr2 99475932 99564998 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1211L chr2 99479585 99479684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1211L chr2 99502997 99503126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1211L chr2 99530150 100125469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C2orf15,EIF5B,KIAA1211L,LIPT1,LYG1,LYG2,MITD1,MRPL30,REV1,TSGA10,TXNDC9 chr2 99530150 100125469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C2orf15,EIF5B,KIAA1211L,LIPT1,LYG1,LYG2,MITD1,MRPL30,REV1,TSGA10,TXNDC9 chr2 99535742 100594456 LOH Normal High-resolution SNP genotyping 21211785 AFF3,C2orf15,EIF5B,KIAA1211L,LIPT1,LYG1,LYG2,MITD1,MRPL30,REV1,TSGA10,TXNDC9 chr2 99556569 99923156 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C2orf15,LIPT1,LYG1,LYG2,MITD1,MRPL30,TSGA10 chr2 99562487 99563535 Loss or gain Normal 244K array 17666407 NOT_FOUND chr2 99626334 100181108 Gain and loss Pancreatic cancer SNP array 17952125 AFF3,C2orf15,EIF5B,LIPT1,LYG1,LYG2,MITD1,MRPL30,REV1,TSGA10,TXNDC9 chr2 99646630 99657845 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TSGA10 chr2 99646630 99659542 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TSGA10 chr2 99667842 99667942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TSGA10 chr2 99728776 100259425 LOH Normal High-resolution SNP genotyping 21211785 AFF3,C2orf15,EIF5B,LIPT1,LYG1,LYG2,MITD1,MRPL30,REV1,TSGA10,TXNDC9 chr2 99829511 99829611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr2 99831698 100380371 Amplification or deletion Cancer Array CGH 17440070 AFF3,EIF5B,LYG1,LYG2,REV1,TXNDC9 chr2 99839409 100005193 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EIF5B,LYG1,LYG2,TXNDC9 chr2 99839409 100005193 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EIF5B,LYG1,LYG2,TXNDC9 chr2 99880344 99925076 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LYG1 chr2 99976859 99976922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF5B chr2 99979978 99980078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF5B chr3 0 0 Gain Cervical cancer array CGH 21063398 NOT_FOUND chr3 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr3 100006512 100006618 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D23 chr3 100006512 100006618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D23 chr3 10000 70450000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 10003595 10021928 Gain and loss Pancreatic cancer SNP array 17952125 EMC3 chr3 10003595 10021928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMC3 chr3 10003899 10021928 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EMC3 chr3 100071090 101540942 LOH Normal High-resolution SNP genotyping 21211785 ABI3BP,CEP97,FAM172BP,GPR128,IMPG2,LNP1,LOC100009676,LOC285359,NIT2,NXPE3,PCNP,RPL24,SENP7,TFG,TMEM45A,TOMM70A,TRMT10C,ZBTB11 chr3 100073635 100073714 Gain and loss Pancreatic cancer SNP array 17952125 NIT2 chr3 100073635 100073714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIT2 chr3 100109993 100110098 Gain and loss Pancreatic cancer SNP array 17952125 TOMM70A chr3 100109993 100110099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TOMM70A chr3 100177308 100177406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 100188922 100188983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 100218182 100959074 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABI3BP,GPR128,IMPG2,TFG,TMEM45A chr3 10023102 10027779 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EMC3 chr3 10023102 10027779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMC3 chr3 10023102 10027779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMC3 chr3 100239500 102141857 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABI3BP,CEP97,FAM172BP,GPR128,IMPG2,LOC100009676,LOC152225,LOC285359,NFKBIZ,NXPE3,PCNP,RPL24,SENP7,TFG,TMEM45A,TRMT10C,ZBTB11 chr3 100255282 100285826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM45A chr3 100265289 100265389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM45A chr3 100273997 101409589 LOH Normal High-resolution SNP genotyping 21211785 ABI3BP,FAM172BP,GPR128,IMPG2,LOC100009676,PCNP,RPL24,SENP7,TFG,TMEM45A,TRMT10C,ZBTB11 chr3 100276287 100296938 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM45A chr3 100279031 100296938 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM45A chr3 100281128 100296938 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM45A chr3 10030926 10043041 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 100320269 100959074 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABI3BP,GPR128,IMPG2,TFG chr3 10032099 10043049 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 10032099 10043049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 10032099 10043049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 100334677 100334777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR128 chr3 100337759 102554948 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABI3BP,CEP97,FAM172BP,GPR128,IMPG2,LOC100009676,LOC152225,LOC285359,NFKBIZ,NXPE3,PCNP,RPL24,SENP7,TFG,TRMT10C,ZBTB11,ZPLD1 chr3 100375358 100395248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR128 chr3 100376319 100383507 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR128 chr3 100377244 101407435 LOH Normal High-resolution SNP genotyping 21211785 ABI3BP,FAM172BP,GPR128,IMPG2,LOC100009676,PCNP,RPL24,SENP7,TFG,TRMT10C,ZBTB11 chr3 100377414 100383495 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR128 chr3 100377426 100383507 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR128 chr3 100377426 100388394 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR128 chr3 100377426 100399027 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR128 chr3 100378062 100422743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR128 chr3 100379801 100387000 Deletion Glioma mate-paired sequence 20126413 GPR128 chr3 100380400 100386589 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR128 chr3 100380400 100388394 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR128 chr3 100381723 100385051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR128 chr3 100381741 100393001 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GPR128 chr3 100381750 100385083 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GPR128 chr3 100381751 100385080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPR128 chr3 100383507 100388394 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GPR128 chr3 100410381 100410562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR128 chr3 100410545 100410730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR128 chr3 100410551 100410651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR128 chr3 100420463 100431991 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 TFG chr3 100424701 100434100 Deletion Glioma mate-paired sequence 20126413 TFG chr3 100426169 100870593 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ABI3BP,TFG chr3 100426286 100432358 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TFG chr3 100426494 100432205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TFG chr3 100427136 100431786 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 TFG chr3 100427148 100432111 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TFG chr3 100427148 100432111 Loss Normal Birdsuite, version 1.5.2 22087296 TFG chr3 100427226 100432098 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 TFG chr3 10043113 10118614 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CIDECP,FANCD2,LOC401052 chr3 10043113 10118614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIDECP,FANCD2,LOC401052 chr3 10043113 10118614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIDECP,FANCD2,LOC401052 chr3 10043128 10116344 Gain and loss Pancreatic cancer SNP array 17952125 CIDECP,FANCD2,LOC401052 chr3 10044101 10297100 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRK1,C3orf24,CIDECP,FANCD2,IRAK2,LOC401052,TATDN2,VHL chr3 100452127 100470297 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ABI3BP,TFG chr3 10045304 10058245 Amplification or deletion Cancer Array CGH 17440070 LOC401052 chr3 100465114 100465186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TFG chr3 100494764 100494813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABI3BP chr3 100497665 100497823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABI3BP chr3 100504954 100505054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABI3BP chr3 100520136 100520447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ABI3BP chr3 10054236 10054338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 10054236 10054339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 10054236 10054339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 100548005 100548105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABI3BP chr3 1005506 1005606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 100595126 100631549 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ABI3BP chr3 100668698 100714742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABI3BP chr3 100685329 100690865 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABI3BP chr3 100690157 100691151 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ABI3BP chr3 100701280 100701380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABI3BP chr3 100725953 100727560 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 100759216 100759316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 100795201 103072200 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP97,FAM172BP,IMPG2,LOC100009676,LOC152225,LOC285359,NFKBIZ,NXPE3,PCNP,RPL24,SENP7,TRMT10C,ZBTB11,ZPLD1 chr3 100796277 100796330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 100808874 100808974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 100840144 100997848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IMPG2 chr3 100840144 100997848 Gain and loss Pancreatic cancer SNP array 17952125 IMPG2 chr3 100840144 100997848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IMPG2 chr3 100877672 100877772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10098005 10124915 Gain and loss Pancreatic cancer SNP array 17952125 C3orf24,FANCD2 chr3 10098007 10124915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C3orf24,FANCD2 chr3 10098007 10124915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf24,FANCD2 chr3 10098007 10124915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf24,FANCD2 chr3 101003791 101003891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IMPG2 chr3 101006633 101007178 Gain and loss Pancreatic cancer SNP array 17952125 IMPG2 chr3 101006633 101007178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IMPG2 chr3 101019514 101379922 Gain and loss Pancreatic cancer SNP array 17952125 FAM172BP,IMPG2,PCNP,SENP7,TRMT10C,ZBTB11 chr3 101019514 101380136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM172BP,IMPG2,PCNP,SENP7,TRMT10C,ZBTB11 chr3 101019514 101380136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM172BP,IMPG2,PCNP,SENP7,TRMT10C,ZBTB11 chr3 101034679 101316047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM172BP,IMPG2,PCNP,SENP7,TRMT10C chr3 101034679 101316047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM172BP,IMPG2,PCNP,SENP7,TRMT10C chr3 101049461 101316039 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM172BP,PCNP,SENP7,TRMT10C chr3 101049463 101316047 Gain and loss Pancreatic cancer SNP array 17952125 FAM172BP,PCNP,SENP7,TRMT10C chr3 101058558 101074770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SENP7 chr3 101084701 101084733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SENP7 chr3 101109401 101114100 Deletion Glioma mate-paired sequence 20126413 SENP7 chr3 101111472 101112319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SENP7 chr3 101111485 101112308 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SENP7 chr3 101119982 101120082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SENP7 chr3 101143456 101386471 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 FAM172BP,PCNP,SENP7,TRMT10C,ZBTB11 chr3 101215045 101249324 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM172BP,SENP7 chr3 101232157 101232248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 101268041 101268346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 10127021 10127091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf24,FANCD2 chr3 101293094 101293164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCNP chr3 10132332 10143874 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 C3orf24,FANCD2 chr3 10132333 10143871 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C3orf24,FANCD2 chr3 10132333 10143871 Gain and loss Pancreatic cancer SNP array 17952125 C3orf24,FANCD2 chr3 10132353 10143613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf24,FANCD2 chr3 10132377 10143073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf24,FANCD2 chr3 101387248 101413273 Gain and loss Pancreatic cancer SNP array 17952125 LOC100009676,RPL24,ZBTB11 chr3 101405370 101407625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPL24 chr3 101410556 101410636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 101426908 101427607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 101426908 101427607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 101432373 101432486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10143338 10143574 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C3orf24,FANCD2 chr3 10143338 10143574 Gain and loss Pancreatic cancer SNP array 17952125 C3orf24,FANCD2 chr3 101445619 102461485 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP97,LOC152225,NFKBIZ,NXPE3,ZPLD1 chr3 101462546 101525205 Gain and loss Pancreatic cancer SNP array 17952125 CEP97,NXPE3 chr3 101462553 101526768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP97,NXPE3 chr3 101462553 101526768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP97,NXPE3 chr3 10146292 10152304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C3orf24 chr3 10146292 10152304 Gain and loss Pancreatic cancer SNP array 17952125 C3orf24 chr3 101483952 101484052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP97 chr3 10150073 10150171 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 10150073 10150171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 10150126 10180247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BRK1 chr3 101536253 101556881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFKBIZ,NXPE3 chr3 101536253 101556881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFKBIZ,NXPE3 chr3 101536258 101556881 Gain and loss Pancreatic cancer SNP array 17952125 NFKBIZ,NXPE3 chr3 101564999 101602915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFKBIZ chr3 101564999 101602915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFKBIZ chr3 101564999 101602932 Gain and loss Pancreatic cancer SNP array 17952125 NFKBIZ chr3 10157836 10157929 Gain and loss Pancreatic cancer SNP array 17952125 BRK1 chr3 10157836 10157929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRK1 chr3 10158318 10167603 Amplification or deletion Cancer Array CGH 17440070 BRK1 chr3 10158318 10168746 Copy number Breast cancer BAC array 16272173 BRK1 chr3 10158318 10168746 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 BRK1 chr3 10158318 10168746 Gain or loss Breast cancer - 20668451 BRK1 chr3 10158318 10168746 Gain or loss Cancer - 20668451 BRK1 chr3 10158318 10168746 Gain or loss Lung cancer - 20668451 BRK1 chr3 10158318 10168746 Gain or loss Ovarian cancer - 20668451 BRK1 chr3 10158318 10168746 Gain or loss Pancreas cancer - 20668451 BRK1 chr3 10158318 10168746 Gain or loss Prostate cancer - 20668451 BRK1 chr3 10158318 10168746 Genomic rearrangement Pheochromocytoma MLPA 19223516 BRK1 chr3 10158318 10168746 Indels Malaria PCR,Delta Delta Ct 21533027 BRK1 chr3 10158318 10168746 In Renal cell carcinoma MCG Whole Genome Array-4500 21228928 BRK1 chr3 10158318 10168746 Loss Chordoma Array CGH 21602918 BRK1 chr3 10158319 10168744 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRK1 chr3 10158319 10168744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRK1 chr3 10158319 10168744 Gain and loss Pancreatic cancer SNP array 17952125 BRK1 chr3 10158319 10168744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRK1 chr3 101602727 101657859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 101602727 101657859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 101608057 102714516 LOH Normal High-resolution SNP genotyping 21211785 LOC152225,ZPLD1 chr3 101621602 102714516 LOH Normal High-resolution SNP genotyping 21211785 LOC152225,ZPLD1 chr3 101678139 101678218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC152225 chr3 101694153 101778975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC152225 chr3 101694153 101778975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC152225 chr3 10171117 10171217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 101720754 101778965 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 101753534 101788708 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 101782766 101801608 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 101789438 101789757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 101811135 101896955 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 101811143 101896955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 101811143 101896955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 10181563 10260427 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IRAK2,VHL chr3 10181563 10260427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRAK2,VHL chr3 10181563 10260427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRAK2,VHL chr3 10181630 10255728 Gain and loss Pancreatic cancer SNP array 17952125 IRAK2,VHL chr3 101817568 101928847 Copy number Cancer Array CGH, Real-Time PCR 19797732 NOT_FOUND chr3 101822222 101822312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 101822746 101925076 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 101822746 101925168 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 101822746 101925168 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 101825666 101927341 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 101825666 101927341 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 101825666 101935613 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 101825666 101935613 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 101834821 101834916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 101909624 106154941 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALCAM,CBLB,MIR548A3,ZPLD1 chr3 101910849 101950501 Copy number Lung cancer - 20668451 NOT_FOUND chr3 101910849 101950501 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 101910849 101950501 Gain or loss Cancer - 20668451 NOT_FOUND chr3 101910849 101950501 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 101910849 101950501 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 101910849 101950501 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 101910849 101950501 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 101910849 101950501 Translate Anaplastic large cell lymphoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr3 101910849 101950501 Translate Papillary thyroid carcinoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 NOT_FOUND chr3 101910850 101950500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 101910850 101950500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 101910959 101950497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1019162 1021211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 101947143 101947222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 101950871 102194939 Gain and loss Pancreatic cancer SNP array 17952125 ZPLD1 chr3 101950871 102195004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZPLD1 chr3 101950871 102195004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZPLD1 chr3 101961642 101961742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 101966859 101966959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 101976805 101976905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 102002601 102007000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 102004320 102005197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 102004367 102005202 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 10201172 10203944 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 102052345 102070068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 102096077 102259187 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZPLD1 chr3 102112520 102113686 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102113083 102113716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102134042 102134142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 102151988 102153547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 102154161 102154266 Gain and loss Pancreatic cancer SNP array 17952125 ZPLD1 chr3 102154161 102154267 Gain and loss Pancreatic cancer SNP array 17952125 ZPLD1 chr3 102154161 102154267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZPLD1 chr3 102168895 102168995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZPLD1 chr3 102180000 141680000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 A4GNT,ABHD10,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ADCY5,ADPRH,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ARGFX,ARHGAP31,ARMC8,ASTE1,ATG3,ATP1B3,ATP2C1,ATP6V1A,B4GALT4,BBX,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf52,C3orf72,CASR,CBLB,CCDC14,CCDC37,CCDC48,CCDC54,CCDC58,CCDC80,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP70,CHCHD6,CHST13,CLDN18,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COPB2,COPG1,COX17,CPNE4,CSTA,DBR1,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DPPA2,DPPA4,DRD3,DTX3L,DZIP1L,DZIP3,EAF2,EEFSEC,EFCAB12,EPHB1,ESYT3,FAIM,FAM162A,FAM86HP,FAM86JP,FBXO40,FLJ22763,FLJ25363,FOXL2,FSTL1,GAP43,GATA2,GCSAM,GOLGB1,GP9,GPR156,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HHLA2,HSPBAP1,IFT122,IFT57,IGSF11,IGSF11-AS1,IL20RB,ILDR1,IQCB1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,KY,LINC00488,LINC00635,LINC00636,LOC100129550,LOC100302640,LOC100507032,LOC339874,LOC344595,LOC653712,LOC90246,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MBD4,MCM2,MGLL,MIR198,MIR4446,MIR4788,MIR4796,MIR5002,MIR5092,MIR548A3,MIR548I1,MIR567,MIR568,MIR5704,MORC1,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYH15,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PARP14,PARP15,PARP9,PCCB,PDIA5,PHLDB2,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCXD2,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,PPP2R3A,PRR23A,PRR23B,PRR23C,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RASA2,RBP1,RBP2,RETNLB,RHO,RNF7,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,RYK,SEC22A,SEC61A1,SEMA5B,SIDT1,SLC12A8,SLC15A2,SLC25A36,SLC35A5,SLC35G2,SLC41A3,SLC9C1,SLCO2A1,SNORA58,SNORA7B,SNX4,SOX14,SPICE1,SPSB4,SRPRB,STAG1,STXBP5L,TAGLN3,TF,TFDP2,TIGIT,TIMMDC1,TMCC1,TMEM108,TMEM39A,TMPRSS7,TOPBP1,TPRA1,TRAT1,TRH,TRIM42,TXNRD3,TXNRD3NB,UBA5,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZNF148,ZNF80,ZPLD1,ZXDC chr3 102219913 102219913 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 102230435 102230535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 102255075 102289300 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 10233896 10233973 Gain and loss Pancreatic cancer SNP array 17952125 IRAK2 chr3 10233896 10234003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRAK2 chr3 102351165 102351165 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 102371351 102391753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 102403366 102403467 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102403366 102403467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102427636 102522109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102427636 102522109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102428263 102522096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102500000 104400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR548A3 chr3 102500000 104400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR548A3 chr3 102523694 102523844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 102525807 102714757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102525807 102714757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102525807 102714775 Copy number Lung cancer - 20668451 NOT_FOUND chr3 102525807 102714775 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102525807 102714775 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 102525807 102714775 Gain or loss Cancer - 20668451 NOT_FOUND chr3 102525807 102714775 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 102525807 102714775 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 102525807 102714775 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 102525807 102714775 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 102588001 102590000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 102608809 102608879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 102615784 102616167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 10265372 10297900 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IRAK2,TATDN2 chr3 10265372 10297900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRAK2,TATDN2 chr3 10265372 10297900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRAK2,TATDN2 chr3 10265392 10297900 Gain and loss Pancreatic cancer SNP array 17952125 IRAK2,TATDN2 chr3 102660064 102660158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102660064 102660159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102660064 102660160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102661747 103457196 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 102684102 102684202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 102684845 102684945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 102692848 102692982 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 102703689 102703789 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102703689 102703789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102723467 102724597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102723488 102724426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102759196 102764226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 102763402 102767777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102763402 102767777 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102763402 102767777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102765495 102765543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 102775720 102795969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102775732 102795969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102775732 102795969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102778023 102778271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102778023 102778481 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102778138 104321960 LOH Normal High-resolution SNP genotyping 21211785 MIR548A3 chr3 102796583 102817048 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 NOT_FOUND chr3 102800000 111300000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ALCAM,BBX,CBLB,CCDC54,CD47,CD96,DPPA2,DPPA4,DZIP3,FLJ22763,FLJ25363,GUCA1C,HHLA2,IFT57,KIAA1524,LINC00488,LINC00635,LINC00636,LOC100302640,LOC344595,MIR548A3,MORC1,MYH15,PVRL3,PVRL3-AS1,RETNLB,TRAT1 chr3 102800773 102801091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102817361 102817461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102817361 102817461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102829844 102829940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102829847 102829938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102840256 102842437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 102840269 102842664 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 102848955 102849052 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102848955 102849054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102848955 102849056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102850981 102878607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102850981 102878607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102850981 102878607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102863594 102863698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102863596 102863698 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102863597 102863698 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 10286773 11466305 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATG7,ATP2B2,GHRL,GHRLOS,GHRLOS2,HRH1,LINC00606,MIR885,SEC13,SLC6A1,SLC6A1-AS1,SLC6A11,TATDN2 chr3 102877964 102879121 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102877964 102879121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102882626 102888243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102882626 102888259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102882626 102888259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102894539 102896542 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102899864 102900601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102910471 102911471 Loss Chordoma References 21215367 NOT_FOUND chr3 102926177 102972095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102926177 102972095 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 102926177 102972095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102932423 123522752 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD10,ADCY5,ADPRH,ALCAM,ARGFX,ARHGAP31,ATG3,ATP6V1A,B4GALT4,BBX,BOC,BTLA,C3orf17,C3orf30,C3orf52,CASR,CBLB,CCDC54,CCDC58,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,COX17,CSTA,DIRC2,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,FAM162A,FBXO40,FLJ22763,FLJ25363,FSTL1,GAP43,GCSAM,GOLGB1,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,HCLS1,HGD,HHLA2,HSPBAP1,IFT57,IGSF11,IGSF11-AS1,ILDR1,IQCB1,KIAA1407,KIAA1524,KIAA2018,KPNA1,LINC00488,LINC00635,LINC00636,LOC100129550,LOC100302640,LOC344595,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MIR198,MIR4446,MIR4796,MIR548A3,MIR567,MIR568,MORC1,MYH15,MYLK,MYLK-AS1,NAA50,NDUFB4,NR1I2,PARP14,PARP15,PARP9,PDIA5,PHLDB2,PLA1A,PLCXD2,POGLUT1,POLQ,POPDC2,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RABL3,RETNLB,SEC22A,SEMA5B,SIDT1,SLC15A2,SLC35A5,SLC9C1,SPICE1,STXBP5L,TAGLN3,TIGIT,TIMMDC1,TMEM39A,TMPRSS7,TRAT1,UPK1B,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80 chr3 102965688 102965788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10297101 10752500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2B2,GHRL,GHRLOS,GHRLOS2,MIR885,SEC13,TATDN2 chr3 102980764 103025141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102980764 103025141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 102987131 103024359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 10301103 10302429 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TATDN2 chr3 10301103 10302429 Gain and loss Pancreatic cancer SNP array 17952125 TATDN2 chr3 10301150 10302429 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TATDN2 chr3 10302434 10306896 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TATDN2 chr3 10302434 10307545 Gain and loss Pancreatic cancer SNP array 17952125 TATDN2 chr3 10302438 10309601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TATDN2 chr3 10302438 10309601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TATDN2 chr3 103029527 103062552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 103029527 103062552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 103051048 103062552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 103054708 103707402 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr3 103072201 103451700 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 103142393 103199460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 103156611 103156717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 103156611 103156719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 103156612 103156717 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 103171161 103171365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10317615 10337855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GHRL,GHRLOS,GHRLOS2,TATDN2 chr3 10317615 10337855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GHRL,GHRLOS,GHRLOS2,TATDN2 chr3 10317617 10337855 Gain and loss Pancreatic cancer SNP array 17952125 GHRL,GHRLOS,GHRLOS2,TATDN2 chr3 103217895 103241403 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 103241886 103241986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103266878 103266978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103303040 103681375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 103303040 103681375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 103317219 103317272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103369343 104321960 LOH Normal High-resolution SNP genotyping 21211785 MIR548A3 chr3 10337501 10519500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2B2,MIR885,SEC13 chr3 103383557 103996725 LOH Normal High-resolution SNP genotyping 21211785 MIR548A3 chr3 103384171 103384271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103384702 104324364 LOH Normal High-resolution SNP genotyping 21211785 MIR548A3 chr3 10340707 10724716 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATP2B2,MIR885,SEC13 chr3 10340707 10724716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2B2,MIR885,SEC13 chr3 10340707 10724716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2B2,MIR885,SEC13 chr3 103419219 103419432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103419382 103419437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103419421 103419644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103423249 103423349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10342745 10466546 Gain and loss Pancreatic cancer SNP array 17952125 ATP2B2,MIR885,SEC13 chr3 103437636 103438636 Loss Chordoma References 21215367 NOT_FOUND chr3 103438814 103439114 Gain Chordoma References 21215367 NOT_FOUND chr3 10344490 10345083 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SEC13 chr3 103451701 103983000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR548A3 chr3 103453209 103453398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103453382 103453524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103587968 103588968 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 103606943 103607043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1036179 52997463 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,ARIH2,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,ATRIP,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA2D2,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DHX30,DLEC1,DNAH1,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RC,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRRN1,LSM3,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3714,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRKAR2A,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 103624911 103710584 Gain Stenocardia MACArray Karyo 17K BAC-chips 21860640 NOT_FOUND chr3 103624911 103710584 Gain Vasospasm MACArray Karyo 17K BAC-chips 21860640 NOT_FOUND chr3 103636549 103681375 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 103673048 103673148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103679563 103679663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103684968 103685042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103695826 103740323 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 103696354 103696434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103698078 103698178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103703350 105205033 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALCAM,MIR548A3 chr3 10370501 10374600 Deletion Glioma mate-paired sequence 20126413 ATP2B2 chr3 10372457 10372805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP2B2 chr3 10375493 10375612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B2 chr3 103766465 103766802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 103875189 103875289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 103878680 103878780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10390226 10390307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B2 chr3 1039151 75836811 Copy number Lung cancer paired-end sequencing 18438408 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 103956586 103956704 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 103956598 103956704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 103956602 103956703 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1039588 44581234 Copy number Lung cancer paired-end sequencing 18438408 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR4,CCR8,CHCHD4,CIDEC,CIDECP,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KRBOX1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZFYVE20,ZNF385D,ZNF445,ZNF619,ZNF620,ZNF621,ZNF662,ZNF860 chr3 103995828 103995928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10400000 11006000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 ATP2B2,LINC00606,MIR885,SLC6A11 chr3 104059109 104092618 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 NOT_FOUND chr3 104078094 104078518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 104111354 128108607 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABHD10,ABTB1,ADCY5,ADPRH,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ARGFX,ARHGAP31,ATG3,ATP6V1A,B4GALT4,BBX,BOC,BTLA,C3orf17,C3orf22,C3orf30,C3orf52,CASR,CBLB,CCDC14,CCDC37,CCDC54,CCDC58,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CHCHD6,CHST13,COX17,CSTA,DIRC2,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,EEFSEC,FAM162A,FAM86JP,FBXO40,FLJ22763,FLJ25363,FSTL1,GAP43,GCSAM,GOLGB1,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,HCLS1,HEG1,HGD,HHLA2,HSPBAP1,IFT57,IGSF11,IGSF11-AS1,ILDR1,IQCB1,ITGB5,KALRN,KBTBD12,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,LINC00488,LINC00635,LINC00636,LOC100129550,LOC100302640,LOC344595,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MCM2,MGLL,MIR198,MIR4446,MIR4796,MIR5002,MIR5092,MIR548I1,MIR567,MIR568,MORC1,MUC13,MYH15,MYLK,MYLK-AS1,NAA50,NDUFB4,NR1I2,NUP210P1,OSBPL11,PARP14,PARP15,PARP9,PDIA5,PHLDB2,PLA1A,PLCXD2,PLXNA1,PODXL2,POGLUT1,POLQ,POPDC2,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RABL3,RETNLB,ROPN1,ROPN1B,RUVBL1,SEC22A,SEC61A1,SEMA5B,SIDT1,SLC12A8,SLC15A2,SLC35A5,SLC41A3,SLC9C1,SNX4,SPICE1,STXBP5L,TAGLN3,TIGIT,TIMMDC1,TMEM39A,TMPRSS7,TPRA1,TRAT1,TXNRD3,TXNRD3NB,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF80,ZXDC chr3 10411173 10411246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2B2 chr3 104112605 104113605 Gain Chordoma References 21215367 NOT_FOUND chr3 104147521 104147621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 104155150 104155450 Loss Chordoma References 21215367 NOT_FOUND chr3 104293040 104293353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 104310704 104310783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 104333007 104333107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 104349722 104382692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 104361494 104361657 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 104361494 104361658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 104361494 104361659 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 104365800 104365900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 104400000 107800000 Deletion Splenic marginal zone lymphoma BAC CGH array 21957467 ALCAM,BBX,CBLB,CCDC54,CD47,LINC00635,LINC00636,LOC100302640,LOC344595 chr3 104400000 107800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALCAM,BBX,CBLB,CCDC54,CD47,LINC00635,LINC00636,LOC100302640,LOC344595 chr3 104400000 109500000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 ALCAM,BBX,CBLB,CCDC54,CD47,DPPA2,DPPA4,DZIP3,FLJ22763,FLJ25363,GUCA1C,HHLA2,IFT57,KIAA1524,LINC00488,LINC00635,LINC00636,LOC100302640,LOC344595,MORC1,MYH15,RETNLB,TRAT1 chr3 104400000 199501827 Gain Normal Human genome CGH 61k ARRAY PLATFORM 22144094 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CRYGS,CSTA,DBR1,DCUN1D1,DGKG,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR149,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,OPA1,OPA1-AS1,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST6GAL1,STAG1,STXBP5L,SUCNR1,TAGLN3,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMPRSS7,TNFSF10,TNIK,TNK2,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZXDC chr3 10440022 10440122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B2 chr3 104439377 104439439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 104442523 104442771 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 104442523 104442771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 104458705 104458805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 104561630 104579709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 10462002 10462064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP2B2 chr3 104669173 104669263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 104685671 104685971 Gain Chordoma References 21215367 NOT_FOUND chr3 10468877 10468977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B2 chr3 10471694 10471794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2B2 chr3 10471704 11603220 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATG7,ATP2B2,HRH1,LINC00606,SLC6A1,SLC6A1-AS1,SLC6A11,VGLL4 chr3 104738943 104903852 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 104791283 104791354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 104807459 104807491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 104914367 104914453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 104933787 104933887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 104964793 104964878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 105004730 105004830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 105009813 105010813 Loss Chordoma References 21215367 NOT_FOUND chr3 105024032 105069057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 105028601 105032500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 105030603 105030921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 105052782 105052862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 105107331 105107431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALCAM chr3 105138258 105138358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALCAM chr3 105179242 105179392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALCAM chr3 10519501 10524000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2B2 chr3 105229594 105772612 LOH Normal High-resolution SNP genotyping 21211785 ALCAM,CBLB chr3 10524001 10531500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2B2 chr3 10524595 10524645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP2B2 chr3 105260622 106077879 LOH Normal High-resolution SNP genotyping 21211785 ALCAM,CBLB chr3 105264567 105265575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALCAM chr3 105292676 105292708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALCAM chr3 10531501 11108000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2B2,LINC00606,SLC6A1,SLC6A1-AS1,SLC6A11 chr3 105352913 105353504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 105362214 105362285 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 105362214 105362285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 105377094 105377193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBLB chr3 10541244 10576262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP2B2 chr3 105457394 105457582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CBLB chr3 105493461 105493561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBLB chr3 105513929 105863046 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CBLB chr3 105515157 106516694 LOH Normal High-resolution SNP genotyping 21211785 CBLB chr3 105522067 106297806 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CBLB chr3 105543500 106326473 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CBLB chr3 105544313 105544413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBLB chr3 105563713 105563807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CBLB chr3 105569731 105752712 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CBLB chr3 105574116 106399528 LOH Normal High-resolution SNP genotyping 21211785 CBLB chr3 105697548 105697648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 105736385 105736475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 105760834 105761732 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 105760890 105761736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 105814923 105815136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 105828745 105828818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10583826 10601466 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 10584286 10584386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 105881353 105881406 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 105898999 105899120 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 105901639 105903313 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 105937188 105980769 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr3 105984966 105985036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 105999812 105999912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106012452 106012676 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 106012452 106012676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 106026107 106056484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 106098105 106098189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106127301 106127396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106160580 106187461 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 106160580 106195090 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 106238438 106238538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106239053 106239149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10624028 10624128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106288988 106289201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106289187 106289341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106322555 106322655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106353367 106779439 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr3 106482301 106482430 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 106553516 108010853 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BBX,CCDC54,CD47,IFT57,LINC00635,LINC00636,LOC100302640,LOC344595 chr3 106568001 106569500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 106568403 106778433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 106568403 106778433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 106568450 106778433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 106595771 106595871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106602918 106603018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106657109 106657233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106723296 106723391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106750000 109600000 Loss Acute lymphoblastic leukemia - 21339820 BBX,CCDC54,CD47,DPPA2,DPPA4,DZIP3,FLJ22763,FLJ25363,GUCA1C,HHLA2,IFT57,KIAA1524,LINC00488,LINC00635,LINC00636,LOC100302640,LOC344595,MORC1,MYH15,RETNLB,TRAT1 chr3 106776838 106776898 Amplification Glioblastoma multiforme Array CGH 19115005 NOT_FOUND chr3 106788684 106793718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 106794257 106794357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106799236 106799331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 106855741 107497593 LOH Normal High-resolution SNP genotyping 21211785 BBX,CCDC54,LOC100302640,LOC344595 chr3 106859799 107070577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100302640,LOC344595 chr3 106859799 107070577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100302640,LOC344595 chr3 106859807 107070518 Gain and loss Pancreatic cancer SNP array 17952125 LOC100302640,LOC344595 chr3 106974270 106974370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC344595 chr3 107036083 107036183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC344595 chr3 107047419 107047508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 107101835 107101880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 107108935 107109035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 107130765 107130865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 107150003 107150050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 107159410 107159510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 107242911 107243011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BBX chr3 10724551 10724630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 107249713 107249813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BBX chr3 107258179 107258354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BBX chr3 107311543 107314310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BBX chr3 107316477 107685603 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 BBX,LINC00635,LINC00636 chr3 10732162 10776911 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 107330741 107330828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BBX chr3 107375727 107407568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BBX chr3 107391861 107392861 Loss Chordoma References 21215367 BBX chr3 107458456 107459456 Gain Chordoma References 21215367 BBX chr3 107468796 107694794 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BBX,LINC00635,LINC00636 chr3 107518475 107519475 Loss Chordoma References 21215367 BBX chr3 10752501 10853700 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00606 chr3 107535539 107569804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00635 chr3 107633520 107818033 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CD47,LINC00636 chr3 107662905 107663905 Gain Chordoma References 21215367 NOT_FOUND chr3 107670401 131708222 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD10,ABTB1,ACAD9,ADCY5,ADPRH,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ARGFX,ARHGAP31,ASTE1,ATG3,ATP2C1,ATP6V1A,B4GALT4,BOC,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf37,C3orf52,CASR,CCDC14,CCDC37,CCDC48,CCDC58,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CHCHD6,CHST13,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,COX17,CPNE4,CSTA,DIRC2,DNAJB8,DNAJB8-AS1,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,EEFSEC,EFCAB12,FAM162A,FAM86HP,FAM86JP,FBXO40,FLJ22763,FLJ25363,FSTL1,GAP43,GATA2,GCSAM,GOLGB1,GP9,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HHLA2,HSPBAP1,IFT122,IFT57,IGSF11,IGSF11-AS1,ILDR1,IQCB1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,LINC00488,LOC100129550,LOC100507032,LOC339874,LOC653712,LOC90246,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MBD4,MCM2,MGLL,MIR198,MIR4446,MIR4796,MIR5002,MIR5092,MIR548I1,MIR567,MIR568,MIR5704,MORC1,MRPL3,MUC13,MYH15,MYLK,MYLK-AS1,NAA50,NDUFB4,NEK11,NR1I2,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PARP14,PARP15,PARP9,PDIA5,PHLDB2,PIK3R4,PLA1A,PLCXD2,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RAB43,RAB7A,RABL3,RETNLB,RHO,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,SEC22A,SEC61A1,SEMA5B,SIDT1,SLC12A8,SLC15A2,SLC35A5,SLC41A3,SLC9C1,SNORA58,SNORA7B,SNX4,SPICE1,STXBP5L,TAGLN3,TIGIT,TIMMDC1,TMCC1,TMEM39A,TMPRSS7,TPRA1,TRAT1,TRH,TXNRD3,TXNRD3NB,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF80,ZXDC chr3 107717434 107717532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 107717434 107717533 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 107717434 107717535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 107730518 108010853 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CD47,IFT57 chr3 107740000 107880000 Deletion Ductal carcinoma SNP array 22052326 CD47,IFT57 chr3 107745112 109453711 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CD47,DPPA2,DPPA4,DZIP3,FLJ22763,FLJ25363,GUCA1C,HHLA2,IFT57,KIAA1524,LINC00488,MORC1,MYH15,RETNLB,TRAT1 chr3 107800000 109500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CD47,DPPA2,DPPA4,DZIP3,FLJ22763,FLJ25363,GUCA1C,HHLA2,IFT57,KIAA1524,LINC00488,MORC1,MYH15,RETNLB,TRAT1 chr3 107812100 109057174 LOH Normal High-resolution SNP genotyping 21211785 DPPA2,DPPA4,DZIP3,FLJ22763,GUCA1C,HHLA2,IFT57,KIAA1524,LINC00488,MORC1,MYH15,RETNLB,TRAT1 chr3 107864418 107864509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 107890215 107890314 Gain and loss Pancreatic cancer SNP array 17952125 IFT57 chr3 107890215 107890315 Gain and loss Pancreatic cancer SNP array 17952125 IFT57 chr3 107890215 107890316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT57 chr3 107904276 107904376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT57 chr3 107919580 107919775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IFT57 chr3 107953579 107953655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10796758 10796920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 10803084 10803166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00606 chr3 108043636 108043736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHLA2 chr3 108059123 112251638 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 ABHD10,ATG3,BTLA,C3orf52,CD200,CD96,DPPA2,DPPA4,DZIP3,FLJ22763,FLJ25363,GCSAM,GUCA1C,HHLA2,KIAA1524,LINC00488,MIR567,MORC1,MYH15,PHLDB2,PLCXD2,PVRL3,PVRL3-AS1,RETNLB,SLC9C1,TAGLN3,TMPRSS7,TRAT1,ZBED2 chr3 108062308 140558308 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 A4GNT,ABHD10,ABTB1,ACAD11,ACAD9,ACPP,ADCY5,ADPRH,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ARGFX,ARHGAP31,ARMC8,ASTE1,ATG3,ATP2C1,ATP6V1A,B4GALT4,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf52,C3orf72,CASR,CCDC14,CCDC37,CCDC48,CCDC58,CCDC80,CCRL1,CD200,CD200R1,CD200R1L,CD80,CD86,CD96,CDV3,CEP63,CEP70,CHCHD6,CHST13,CLDN18,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COPB2,COPG1,COX17,CPNE4,CSTA,DBR1,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DPPA2,DPPA4,DRD3,DTX3L,DZIP1L,DZIP3,EAF2,EEFSEC,EFCAB12,EPHB1,ESYT3,FAIM,FAM162A,FAM86HP,FAM86JP,FBXO40,FLJ22763,FLJ25363,FOXL2,FSTL1,GAP43,GATA2,GCSAM,GOLGB1,GP9,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HHLA2,HSPBAP1,IFT122,IGSF11,IGSF11-AS1,IL20RB,ILDR1,IQCB1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,KY,LINC00488,LOC100129550,LOC100507032,LOC339874,LOC653712,LOC90246,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MBD4,MCM2,MGLL,MIR198,MIR4446,MIR4788,MIR4796,MIR5002,MIR5092,MIR548I1,MIR567,MIR568,MIR5704,MORC1,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYH15,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PARP14,PARP15,PARP9,PCCB,PDIA5,PHLDB2,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCXD2,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,PPP2R3A,PRR23A,PRR23B,PRR23C,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RBP1,RBP2,RETNLB,RHO,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,RYK,SEC22A,SEC61A1,SEMA5B,SIDT1,SLC12A8,SLC15A2,SLC35A5,SLC35G2,SLC41A3,SLC9C1,SLCO2A1,SNORA58,SNORA7B,SNX4,SOX14,SPICE1,SRPRB,STAG1,STXBP5L,TAGLN3,TF,TIGIT,TIMMDC1,TMCC1,TMEM108,TMEM39A,TMPRSS7,TOPBP1,TPRA1,TRAT1,TRH,TRIM42,TXNRD3,TXNRD3NB,UBA5,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF80,ZXDC chr3 108095680 108095750 Gain and loss Pancreatic cancer SNP array 17952125 HHLA2 chr3 108095680 108095750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHLA2 chr3 108095751 108095808 Gain and loss Pancreatic cancer SNP array 17952125 HHLA2 chr3 108095751 108095808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHLA2 chr3 108095810 108095877 Gain and loss Pancreatic cancer SNP array 17952125 HHLA2 chr3 108095810 108095877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HHLA2 chr3 108097946 108098012 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 108097946 108098012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 108099208 108099301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH15 chr3 108100136 108100205 Gain and loss Pancreatic cancer SNP array 17952125 MYH15 chr3 108100136 108100205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH15 chr3 108103502 108103570 Gain and loss Pancreatic cancer SNP array 17952125 MYH15 chr3 108103569 108103639 Gain and loss Pancreatic cancer SNP array 17952125 MYH15 chr3 108103569 108103639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH15 chr3 108103641 108103709 Gain and loss Pancreatic cancer SNP array 17952125 MYH15 chr3 108103641 108103709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH15 chr3 108104438 108104505 Gain and loss Pancreatic cancer SNP array 17952125 MYH15 chr3 108104438 108104505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH15 chr3 108133167 108133242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYH15 chr3 10814835 10814935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 108209105 108209207 Gain and loss Pancreatic cancer SNP array 17952125 MYH15 chr3 108209105 108209207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYH15 chr3 108218668 108218921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYH15 chr3 10822438 10822538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1082264 1082559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1082264 1082559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 1082268 1082559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 108235308 108236308 Loss Chordoma References 21215367 MYH15 chr3 108296316 108296479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1524 chr3 108299655 108344587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DZIP3,KIAA1524 chr3 108306448 108307191 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1524 chr3 108306448 108307782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1524 chr3 108317484 108318484 Gain Chordoma References 21215367 DZIP3 chr3 10832917 10955146 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC6A11 chr3 10832917 10955146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC6A11 chr3 10832917 10955146 Gain and loss Pancreatic cancer SNP array 17952125 SLC6A11 chr3 10832917 10955146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC6A11 chr3 108336893 128108607 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABHD10,ABTB1,ADCY5,ADPRH,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ARGFX,ARHGAP31,ATG3,ATP6V1A,B4GALT4,BOC,BTLA,C3orf17,C3orf22,C3orf30,C3orf52,CASR,CCDC14,CCDC37,CCDC58,CCDC80,CD200,CD200R1,CD200R1L,CD80,CD86,CD96,CHCHD6,CHST13,COX17,CSTA,DIRC2,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,EEFSEC,FAM162A,FAM86JP,FBXO40,FLJ22763,FLJ25363,FSTL1,GAP43,GCSAM,GOLGB1,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,HCLS1,HEG1,HGD,HSPBAP1,IGSF11,IGSF11-AS1,ILDR1,IQCB1,ITGB5,KALRN,KBTBD12,KIAA1407,KIAA2018,KLF15,KPNA1,LINC00488,LOC100129550,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MCM2,MGLL,MIR198,MIR4446,MIR4796,MIR5002,MIR5092,MIR548I1,MIR567,MIR568,MORC1,MUC13,MYLK,MYLK-AS1,NAA50,NDUFB4,NR1I2,NUP210P1,OSBPL11,PARP14,PARP15,PARP9,PDIA5,PHLDB2,PLA1A,PLCXD2,PLXNA1,PODXL2,POGLUT1,POLQ,POPDC2,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RABL3,RETNLB,ROPN1,ROPN1B,RUVBL1,SEC22A,SEC61A1,SEMA5B,SIDT1,SLC12A8,SLC15A2,SLC35A5,SLC41A3,SLC9C1,SNX4,SPICE1,STXBP5L,TAGLN3,TIGIT,TIMMDC1,TMEM39A,TMPRSS7,TPRA1,TRAT1,TXNRD3,TXNRD3NB,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF80,ZXDC chr3 108458777 108458877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10850770 10884081 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC6A11 chr3 108507811 108552033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRAT1 chr3 108518701 108524800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 108520640 108523026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 108520645 108523022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 108521711 108522187 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 10853701 11106700 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC6A1,SLC6A1-AS1,SLC6A11 chr3 108560587 108848239 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GUCA1C,MORC1,TRAT1 chr3 108560587 110400929 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DPPA2,DPPA4,FLJ22763,FLJ25363,GUCA1C,LINC00488,MORC1,TRAT1 chr3 108566719 108566824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAT1 chr3 108578878 108580171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 108578878 108580171 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 108578878 108580171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 108620000 110660000 Deletion Ductal carcinoma SNP array 22052326 DPPA2,DPPA4,FLJ22763,FLJ25363,GUCA1C,LINC00488,MORC1 chr3 108645603 108655226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCA1C chr3 108645956 108690898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GUCA1C,MORC1 chr3 108648048 108648135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GUCA1C chr3 108724480 109007398 Gain and loss Pancreatic cancer SNP array 17952125 FLJ22763,LINC00488,MORC1 chr3 108724480 109007879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ22763,LINC00488,MORC1 chr3 108724480 109007879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ22763,LINC00488,MORC1 chr3 108841698 108841798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 108889652 108889752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 108926379 108926479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 108992401 109270700 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPPA2,DPPA4,FLJ25363 chr3 109031859 109031939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DPPA2 chr3 109082368 109306668 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 FLJ25363 chr3 109098087 113488155 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD10,ATG3,ATP6V1A,BOC,BTLA,C3orf17,C3orf52,CCDC80,CD200,CD200R1,CD200R1L,CD96,FLJ25363,GCSAM,GTPBP8,KIAA2018,MIR4446,MIR567,NAA50,PHLDB2,PLCXD2,PVRL3,PVRL3-AS1,SIDT1,SLC35A5,SLC9C1,SPICE1,TAGLN3,TMPRSS7,WDR52,WDR52-AS1,ZBED2 chr3 109117605 109661753 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ25363 chr3 109182993 109193036 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ25363 chr3 109188323 109189323 Gain Chordoma References 21215367 FLJ25363 chr3 109190597 109190687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ25363 chr3 109210189 109210289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ25363 chr3 109226978 109239857 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 109244631 109292629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109244631 109292629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109244836 109281882 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr3 109244837 109292445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109252576 109252662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 109349094 109349194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10935739 10935851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A11 chr3 109362350 109423938 Amplification T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr3 109362350 109423938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109362350 109423938 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109362350 109423938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109395681 109395781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 109498102 109590209 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109500000 112800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD10,ATG3,BTLA,C3orf17,C3orf52,CCDC80,CD200,CD200R1,CD200R1L,CD96,GCSAM,GTPBP8,MIR567,PHLDB2,PLCXD2,PVRL3,PVRL3-AS1,SLC35A5,SLC9C1,TAGLN3,TMPRSS7,ZBED2 chr3 109500000 112800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD10,ATG3,BTLA,C3orf17,C3orf52,CCDC80,CD200,CD200R1,CD200R1L,CD96,GCSAM,GTPBP8,MIR567,PHLDB2,PLCXD2,PVRL3,PVRL3-AS1,SLC35A5,SLC9C1,TAGLN3,TMPRSS7,ZBED2 chr3 109504022 109581715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109521929 109522015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109527042 109528351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109562030 109562130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 109568779 109569221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109572240 109572921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109581906 109730859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109581906 109730859 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109581906 109730859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109595462 109610786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 109654492 109654592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10966775 10967271 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC6A11 chr3 10967379 10967463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A11 chr3 109747282 109747382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 109751523 109790980 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109752104 109790980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109752104 109790980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109776102 109776235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109776102 109776235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109776117 109776235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109782502 109782652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 109791274 109896382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109791274 109896382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109791274 109896382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 109818666 109818752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 109833436 111119885 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-423K arrays 21546498 PVRL3,PVRL3-AS1 chr3 109849657 109849716 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr3 109883268 109884880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 109935920 109936020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 10994622 11007829 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 10994622 11014702 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 10995033 11006990 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 10995033 11014702 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 109957174 109958818 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 109957176 109958820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 10995914 11007829 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 10995914 11011697 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 10996002 11007829 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 110000000 198900000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CRYGS,CSTA,DBR1,DCUN1D1,DGKG,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DRD3,DTX3L,DVL3,DZIP1L,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR149,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339874,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,OPA1,OPA1-AS1,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST6GAL1,STAG1,STXBP5L,SUCNR1,TAGLN3,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMPRSS7,TNFSF10,TNIK,TNK2,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZXDC chr3 11000904 11011697 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 110023833 110214799 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 110024321 110056404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110024321 110056404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110024321 110056542 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 110025010 110025110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110044911 110044992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110052664 110052764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 11009440 11055927 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC6A1,SLC6A1-AS1 chr3 11009440 11055927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC6A1,SLC6A1-AS1 chr3 11009440 11055927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC6A1,SLC6A1-AS1 chr3 11009440 11055929 Gain and loss Pancreatic cancer SNP array 17952125 SLC6A1,SLC6A1-AS1 chr3 110097772 110508690 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 110097772 110508690 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 110100086 110501769 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 110100086 110501769 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 110109340 110155310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110109340 110155310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 110109340 110155310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110113650 110113832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110113837 110114024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110116098 110397433 Copy number Rett syndrome References 21593744 NOT_FOUND chr3 110116098 110397433 Duplication Rett syndrome References 21593744 NOT_FOUND chr3 110159779 110319658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110159779 110319658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110159781 110319658 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 110188734 110233549 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 110220444 110220653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 110220444 110220653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110220447 110220653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110319450 110321566 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 110358847 110358947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110372102 111815065 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABHD10,C3orf52,CD96,PHLDB2,PLCXD2,PVRL3,PVRL3-AS1,TAGLN3,TMPRSS7,ZBED2 chr3 110379702 110386794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110417061 110417093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110425294 149582513 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-386K arrays 21546498 A4GNT,ABHD10,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ADCY5,ADPRH,AGTR1,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ANKUB1,ARGFX,ARHGAP31,ARMC8,ASTE1,ATG3,ATP1B3,ATP2C1,ATP6V1A,ATR,B4GALT4,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf52,C3orf58,C3orf72,CASR,CCDC14,CCDC37,CCDC48,CCDC58,CCDC80,CCRL1,CD200,CD200R1,CD200R1L,CD80,CD86,CD96,CDV3,CEP63,CEP70,CHCHD6,CHST13,CHST2,CLDN18,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPNE4,CSTA,DBR1,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DRD3,DTX3L,DZIP1L,EAF2,EEFSEC,EFCAB12,EPHB1,ESYT3,FAIM,FAM162A,FAM86HP,FAM86JP,FBXO40,FOXL2,FSTL1,GAP43,GATA2,GCSAM,GK5,GOLGB1,GP9,GPR156,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HLTF,HLTF-AS1,HPS3,HSPBAP1,IFT122,IGSF11,IGSF11-AS1,IL20RB,ILDR1,IQCB1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KIAA1407,KIAA2018,KLF15,KPNA1,KY,LOC100129550,LOC100289361,LOC100507032,LOC100507389,LOC339874,LOC653712,LOC90246,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MBD4,MCM2,MGLL,MIR198,MIR4446,MIR4788,MIR4796,MIR5002,MIR5092,MIR548I1,MIR567,MIR568,MIR5704,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PAQR9,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PDIA5,PHLDB2,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCXD2,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,PPP2R3A,PRR23A,PRR23B,PRR23C,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RASA2,RBP1,RBP2,RHO,RNF13,RNF7,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,RYK,SEC22A,SEC61A1,SEMA5B,SIDT1,SLC12A8,SLC15A2,SLC25A36,SLC35A5,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SNORA58,SNORA7B,SNX4,SOX14,SPICE1,SPSB4,SRPRB,STAG1,STXBP5L,TAGLN3,TF,TFDP2,TIGIT,TIMMDC1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM39A,TMPRSS7,TOPBP1,TPRA1,TRH,TRIM42,TRPC1,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,WWTR1,WWTR1-AS1,XRN1,ZBED2,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZIC1,ZIC4,ZNF148,ZNF80,ZXDC chr3 1 104400000 Deletion Medulloblastoma SNP arrays 21979893 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLDND1,CLEC3B,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COL8A1,COLQ,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FILIP1L,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GABRR3,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR128,GPR15,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IMPG2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LNP1,LOC100009676,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC152225,LOC201617,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NSUN3,NT5DC2,NUP210,NXPE3,OGG1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL24,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SENP7,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STT3B,STX19,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D23,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TFG,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM40,TMEM42,TMEM43,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOMM70A,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRMT10C,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB11,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860,ZPLD1 chr3 110450079 110450148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110456383 110657226 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 NOT_FOUND chr3 110484722 110548245 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 110495331 110518054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 110495331 110518054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110511721 110511821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110523188 110523414 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 110523188 110523414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110527679 110539109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110527679 110539109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110527710 110539035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 110573889 110601007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 110585991 110587636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 110611215 110611583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110611215 110611583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 110611215 110611613 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 110635770 110635888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 11071142 11088654 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC6A1 chr3 110777972 110804588 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 PVRL3,PVRL3-AS1 chr3 11083285 11086883 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 11083322 11088177 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 110881261 111815065 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABHD10,C3orf52,CD96,PHLDB2,PLCXD2,PVRL3,TAGLN3,TMPRSS7,ZBED2 chr3 110892342 110892435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PVRL3 chr3 1109456 1420901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN6 chr3 1109456 1420901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN6 chr3 1109627 1420278 Copy number Autism - 20685689 CNTN6 chr3 1109627 1420278 Copy number cervicovaginal lavage PCR 20877625 CNTN6 chr3 1109627 1420278 Copy number Rectal cancer FISH 20877625 CNTN6 chr3 1109628 1420278 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CNTN6 chr3 1109629 1420278 Gain and loss Pancreatic cancer SNP array 17952125 CNTN6 chr3 110971765 110972020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 110986496 110986596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110987355 110987473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110987364 110987472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 110987473 110987665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 11106701 12801800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATG7,HRH1,LOC100129480,MKRN2,PPARG,RAF1,SYN2,TAMM41,TIMP4,TMEM40,TSEN2,VGLL4 chr3 11108001 11109500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 11109501 11203000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HRH1 chr3 111117513 111118477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 111117513 111118477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 111123115 111123505 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 111213663 111213763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 111226161 111226376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 111226687 111226754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 111308640 111353032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CD96,ZBED2 chr3 111311305 112342878 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD10,ATG3,BTLA,C3orf52,CCDC80,CD200,CD96,GCSAM,MIR567,PHLDB2,PLCXD2,SLC35A5,SLC9C1,TAGLN3,TMPRSS7,ZBED2 chr3 1113133 1217227 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 CNTN6 chr3 111325629 112478007 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-424K arrays 21546498 ABHD10,ATG3,BTLA,C3orf52,CCDC80,CD200,CD96,GCSAM,MIR567,PHLDB2,PLCXD2,SLC35A5,SLC9C1,TAGLN3,TMPRSS7 chr3 111335272 111335372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD96 chr3 111344479 111345479 Loss Chordoma References 21215367 CD96 chr3 1114133 1114222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 111438366 111438466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCXD2 chr3 111440555 111441555 Gain Chordoma References 21215367 PLCXD2 chr3 111457621 111458519 Gain and loss Pancreatic cancer SNP array 17952125 PHLDB2,PLCXD2 chr3 111495856 111578020 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PHLDB2,PLCXD2 chr3 111526921 111547598 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PHLDB2,PLCXD2 chr3 11154095 11154180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 111578572 111625499 Copy number loss Normal High-resolution SNP genotyping 21211785 PHLDB2 chr3 111600564 111616274 Loss Normal Birdsuite, version 1.5.2 22087296 PHLDB2 chr3 111625499 112406648 LOH Normal High-resolution SNP genotyping 21211785 ABHD10,ATG3,BTLA,C3orf52,CCDC80,CD200,GCSAM,MIR567,PHLDB2,SLC35A5,SLC9C1,TAGLN3,TMPRSS7 chr3 111625499 112459691 LOH Normal High-resolution SNP genotyping 21211785 ABHD10,ATG3,BTLA,C3orf52,CCDC80,CD200,GCSAM,MIR567,PHLDB2,SLC35A5,SLC9C1,TAGLN3,TMPRSS7 chr3 111687046 111687146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHLDB2 chr3 111712220 111712327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 111712331 111712578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 111739662 111739943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 111753382 111753502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 111753408 111753502 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 111753408 111753502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 111814580 112485064 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATG3,BTLA,C3orf52,CCDC80,CD200,GCSAM,MIR567,SLC35A5,SLC9C1 chr3 111826006 111826106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf52 chr3 111838261 111838350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 111847745 111847845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GCSAM chr3 1118588 1976802 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN6 chr3 111868480 111913213 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC9C1 chr3 111883823 111884655 Gain and loss Pancreatic cancer SNP array 17952125 SLC9C1 chr3 111928558 111928656 Gain and loss Pancreatic cancer SNP array 17952125 SLC9C1 chr3 111928558 111928658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9C1 chr3 111928559 111928653 Gain and loss Pancreatic cancer SNP array 17952125 SLC9C1 chr3 111998471 111998571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9C1 chr3 11204064 11204176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HRH1 chr3 112045588 112045688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 112087582 112087682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 112093677 112095013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 112126103 112127103 Loss Chordoma References 21215367 NOT_FOUND chr3 112126377 112127377 Gain Chordoma References 21215367 NOT_FOUND chr3 112147066 112148066 Gain Chordoma References 21215367 NOT_FOUND chr3 112176946 112181769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 112180391 112214967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BTLA chr3 112261907 112262007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATG3 chr3 112273413 112335752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG3,CCDC80,SLC35A5 chr3 112273413 112335752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG3,CCDC80,SLC35A5 chr3 112273555 112395063 Gain and loss Pancreatic cancer SNP array 17952125 ATG3,CCDC80,SLC35A5 chr3 112297280 112297430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC35A5 chr3 112300987 112741026 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf17,CCDC80,CD200R1,CD200R1L,GTPBP8,SLC35A5 chr3 112317505 112318505 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 112321426 112321913 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 112326848 112326880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC80 chr3 11235512 11235612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HRH1 chr3 112355945 112356045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC80 chr3 112380666 112381666 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 112386810 112387810 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 112396393 112397393 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 1 12400000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,C3orf24,C3orf32,CAMK1,CAV3,CHL1,CIDEC,CIDECP,CNTN4,CNTN4-AS2,CNTN6,CPNE9,CRBN,CRELD1,EDEM1,EGOT,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,GRM7,HRH1,IL17RC,IL17RE,IL5RA,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LINC00606,LMCD1,LOC100288428,LOC100507582,LOC401052,LOC440944,LRRN1,MIR4790,MIR885,MTMR14,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SETMAR,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TRNT1,TTLL3,VGLL4,VHL chr3 112403906 112438454 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 112404719 112449934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 112437341 112437393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 112453490 112453693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 11250939 11251366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HRH1 chr3 112531083 113299667 Deletion Breast cancer FISH 17142309 BOC,C3orf17,CD200R1,CD200R1L,GTPBP8,SIDT1,SPICE1,WDR52,WDR52-AS1 chr3 112534527 112534608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD200R1L chr3 11255004 11256004 Gain Chordoma References 21215367 HRH1 chr3 1125842 1125942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 112635601 115696900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP6V1A,BOC,C3orf17,CD200R1,DRD3,GAP43,GRAMD1C,GTPBP8,KIAA1407,KIAA2018,LSAMP,MIR4446,MIR4796,MIR568,NAA50,QTRTD1,SIDT1,SPICE1,TIGIT,WDR52,WDR52-AS1,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80 chr3 112655821 113781035 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP6V1A,BOC,C3orf17,CD200R1,GRAMD1C,GTPBP8,KIAA1407,KIAA2018,MIR4446,NAA50,QTRTD1,SIDT1,SPICE1,WDR52,WDR52-AS1,ZDHHC23 chr3 11269385 11280243 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HRH1 chr3 11269385 11280243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HRH1 chr3 11269385 11280243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HRH1 chr3 112718725 112765728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C3orf17,GTPBP8 chr3 112724924 112736764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C3orf17 chr3 112726310 112731724 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C3orf17 chr3 112726366 112729979 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C3orf17 chr3 112743546 112853906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 112743616 112853896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 112743616 112853896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 11275687 11279415 Gain and loss Pancreatic cancer SNP array 17952125 HRH1 chr3 112794437 112796856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 112794437 112796856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 112795082 112795735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 112800000 115000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP6V1A,BOC,DRD3,GRAMD1C,KIAA1407,KIAA2018,MIR4446,MIR4796,MIR568,NAA50,QTRTD1,SIDT1,SPICE1,TIGIT,WDR52,WDR52-AS1,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80 chr3 112800000 115000000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ATP6V1A,BOC,DRD3,GRAMD1C,KIAA1407,KIAA2018,MIR4446,MIR4796,MIR568,NAA50,QTRTD1,SIDT1,SPICE1,TIGIT,WDR52,WDR52-AS1,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80 chr3 112800000 115000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP6V1A,BOC,DRD3,GRAMD1C,KIAA1407,KIAA2018,MIR4446,MIR4796,MIR568,NAA50,QTRTD1,SIDT1,SPICE1,TIGIT,WDR52,WDR52-AS1,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80 chr3 112800000 115000000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 ATP6V1A,BOC,DRD3,GRAMD1C,KIAA1407,KIAA2018,MIR4446,MIR4796,MIR568,NAA50,QTRTD1,SIDT1,SPICE1,TIGIT,WDR52,WDR52-AS1,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80 chr3 112800000 144400000 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 A4GNT,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ADCY5,ADPRH,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ARGFX,ARHGAP31,ARMC8,ASTE1,ATP1B3,ATP2C1,ATP6V1A,ATR,B4GALT4,BFSP2,BOC,BPESC1,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf58,C3orf72,CASR,CCDC14,CCDC37,CCDC48,CCDC58,CCRL1,CD80,CD86,CDV3,CEP63,CEP70,CHCHD6,CHST13,CHST2,CLDN18,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COPB2,COPG1,COX17,CPNE4,CSTA,DBR1,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DRD3,DTX3L,DZIP1L,EAF2,EEFSEC,EFCAB12,EPHB1,ESYT3,FAIM,FAM162A,FAM86HP,FAM86JP,FBXO40,FOXL2,FSTL1,GAP43,GATA2,GK5,GOLGB1,GP9,GPR156,GRAMD1C,GRK7,GSK3B,GTF2E1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HSPBAP1,IFT122,IGSF11,IGSF11-AS1,IL20RB,ILDR1,IQCB1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KIAA1407,KIAA2018,KLF15,KPNA1,KY,LOC100129550,LOC100289361,LOC100507032,LOC100507389,LOC339874,LOC653712,LOC90246,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MBD4,MCM2,MGLL,MIR198,MIR4446,MIR4788,MIR4796,MIR5002,MIR5092,MIR548I1,MIR568,MIR5704,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PAQR9,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PDIA5,PIK3CB,PIK3R4,PISRT1,PLA1A,PLS1,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,PPP2R3A,PRR23A,PRR23B,PRR23C,PTPLB,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RASA2,RBP1,RBP2,RHO,RNF7,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,RYK,SEC22A,SEC61A1,SEMA5B,SIDT1,SLC12A8,SLC15A2,SLC25A36,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLCO2A1,SNORA58,SNORA7B,SNX4,SOX14,SPICE1,SPSB4,SRPRB,STAG1,STXBP5L,TF,TFDP2,TIGIT,TIMMDC1,TMCC1,TMEM108,TMEM39A,TOPBP1,TPRA1,TRH,TRIM42,TRPC1,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,XRN1,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZNF148,ZNF80,ZXDC chr3 112876213 113047984 Gain and loss Pancreatic cancer SNP array 17952125 BOC,WDR52 chr3 112876213 113177825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BOC,SPICE1,WDR52,WDR52-AS1 chr3 112876213 113177825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BOC,SPICE1,WDR52,WDR52-AS1 chr3 11289083 11571556 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATG7,HRH1 chr3 11289083 11571556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG7,HRH1 chr3 11289083 11571556 Gain and loss Pancreatic cancer SNP array 17952125 ATG7,HRH1 chr3 11289083 11571556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG7,HRH1 chr3 112893093 112893162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 112930000 115910000 Deletion Ductal carcinoma SNP array 22052326 ATP6V1A,BOC,DRD3,GAP43,GRAMD1C,KIAA1407,KIAA2018,LSAMP,MIR4446,MIR4796,MIR568,NAA50,QTRTD1,SIDT1,SPICE1,TIGIT,WDR52,WDR52-AS1,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80 chr3 112942282 112975055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BOC chr3 112946636 112946736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BOC chr3 112966348 112966483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BOC chr3 113008283 113008383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR52 chr3 113047529 114916790 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP6V1A,DRD3,GRAMD1C,KIAA1407,KIAA2018,MIR4446,MIR4796,MIR568,NAA50,QTRTD1,SIDT1,SPICE1,TIGIT,WDR52,WDR52-AS1,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80 chr3 113048172 113048257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR52 chr3 113060739 113061011 Gain and loss Pancreatic cancer SNP array 17952125 WDR52 chr3 113061333 113177825 Gain and loss Pancreatic cancer SNP array 17952125 SPICE1,WDR52,WDR52-AS1 chr3 113080873 113080952 Gain and loss Pancreatic cancer SNP array 17952125 WDR52 chr3 113080873 113080952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR52 chr3 113154484 113172841 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SPICE1,WDR52 chr3 113180589 113194896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPICE1 chr3 113180589 113194896 Gain and loss Pancreatic cancer SNP array 17952125 SPICE1 chr3 113180589 113194896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPICE1 chr3 113200276 113215424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPICE1 chr3 113200276 113215424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPICE1 chr3 113200332 113215420 Gain and loss Pancreatic cancer SNP array 17952125 SPICE1 chr3 113241155 113282806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIDT1 chr3 113241155 113282806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIDT1 chr3 113247038 113247132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 113249359 113282621 Gain and loss Pancreatic cancer SNP array 17952125 SIDT1 chr3 113287926 113319747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4446,SIDT1 chr3 113287926 113319747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4446,SIDT1 chr3 113287939 113319747 Gain and loss Pancreatic cancer SNP array 17952125 MIR4446,SIDT1 chr3 113314338 113314435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIDT1 chr3 113322382 113334763 Gain and loss Pancreatic cancer SNP array 17952125 SIDT1 chr3 113322382 113336480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SIDT1 chr3 113322382 113336480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SIDT1 chr3 113336479 113336551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIDT1 chr3 113342424 113495795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP6V1A,KIAA2018,NAA50,SIDT1 chr3 113342424 113495795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP6V1A,KIAA2018,NAA50,SIDT1 chr3 113352956 113495795 Gain and loss Pancreatic cancer SNP array 17952125 ATP6V1A,KIAA2018,NAA50 chr3 113354596 113371682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA2018 chr3 113355877 113371411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA2018 chr3 113356828 113368809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA2018 chr3 113359114 113368961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA2018 chr3 113359466 113368622 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA2018 chr3 1133975 1134075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 113481202 113526750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP6V1A chr3 113481782 113482782 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ATP6V1A chr3 113481783 113482783 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ATP6V1A chr3 113493435 114003855 Substitutions and indels small cell lung cancer array-CGH 20016488 ATP6V1A,DRD3,GRAMD1C,KIAA1407,QTRTD1,ZDHHC23,ZNF80 chr3 113511195 113779889 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 ATP6V1A,GRAMD1C,KIAA1407,QTRTD1,ZDHHC23 chr3 113525909 113595833 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ATP6V1A,GRAMD1C chr3 113534605 113564348 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 GRAMD1C chr3 113534605 113564348 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 GRAMD1C chr3 113534606 113564346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1C chr3 113534606 113564346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1C chr3 113534694 113564346 Gain and loss Pancreatic cancer SNP array 17952125 GRAMD1C chr3 113537715 113700809 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GRAMD1C,KIAA1407,ZDHHC23 chr3 113538000 113686000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 GRAMD1C,KIAA1407,ZDHHC23 chr3 113538483 113659820 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 GRAMD1C chr3 113567367 113599333 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GRAMD1C chr3 113583901 113598500 Deletion Glioma mate-paired sequence 20126413 GRAMD1C chr3 113637816 113669886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRAMD1C,ZDHHC23 chr3 113646191 113673070 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 GRAMD1C,ZDHHC23 chr3 113646498 113760243 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GRAMD1C,KIAA1407,ZDHHC23 chr3 113664314 113679817 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 GRAMD1C,ZDHHC23 chr3 113665502 113701098 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 GRAMD1C,KIAA1407,ZDHHC23 chr3 113665502 113701098 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 GRAMD1C,KIAA1407,ZDHHC23 chr3 113665503 113701098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1C,KIAA1407,ZDHHC23 chr3 113665503 113701098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRAMD1C,KIAA1407,ZDHHC23 chr3 113667645 113700895 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1407,ZDHHC23 chr3 113684065 113708318 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KIAA1407 chr3 113704529 113704672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1407 chr3 113734048 113763175 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 KIAA1407 chr3 113734050 113763453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1407 chr3 113734050 113763453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1407 chr3 113734236 113763453 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1407 chr3 113762015 113762115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1407 chr3 113763584 113785693 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 KIAA1407,QTRTD1 chr3 113763585 113785692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1407,QTRTD1 chr3 113763585 113785692 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1407,QTRTD1 chr3 113763585 113785692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1407,QTRTD1 chr3 113806101 113842667 Gain and loss Pancreatic cancer SNP array 17952125 QTRTD1 chr3 113806103 113842667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 QTRTD1 chr3 113806103 113842667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QTRTD1 chr3 113860494 113860594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DRD3 chr3 113898136 113898218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 113920280 113920380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 113941777 114057770 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 MIR568,TIGIT,ZBTB20,ZNF80 chr3 113950073 113950402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 114004448 114005448 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 114008763 115814583 Substitutions and indels small cell lung cancer array-CGH 20016488 GAP43,LSAMP,MIR4796,MIR568,TIGIT,ZBTB20,ZBTB20-AS1 chr3 114017246 114047487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR568,TIGIT chr3 114017246 114047487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR568,TIGIT chr3 114039241 114039781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 114055598 114055698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 114122746 114176650 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB20 chr3 114124227 114176650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114124227 114176650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114133501 114135000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZBTB20 chr3 114192490 114202481 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB20 chr3 114192490 114202910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114192490 114202910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114203981 114221245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114203981 114221245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114206458 114221243 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB20 chr3 114240757 114240842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114242244 114282926 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZBTB20 chr3 114287841 114287921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114302441 114302473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114303967 114304051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114316228 114667754 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4796,ZBTB20 chr3 114352621 114352716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114398937 114398969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114411262 114411362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114413102 114488993 Gain and loss Pancreatic cancer SNP array 17952125 MIR4796,ZBTB20 chr3 114414065 114488993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4796,ZBTB20 chr3 114414065 114488993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4796,ZBTB20 chr3 114419299 115046923 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR4796,ZBTB20 chr3 114422911 114423011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114445773 114445862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114459111 114459198 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZBTB20 chr3 114472001 114481500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZBTB20 chr3 114492399 114643030 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB20 chr3 114493094 114643030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114493094 114643030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114494149 114495149 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 ZBTB20 chr3 114501531 114501563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114521973 114522032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZBTB20 chr3 114644260 114716693 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB20 chr3 114644262 114716693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114644262 114716693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114660599 114660699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 1 14700000 Chromosomal rearrangement Papillary thyroid carcinoma References 21436994 ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,C3orf24,C3orf32,CAMK1,CAND2,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CNTN4,CNTN4-AS2,CNTN6,CPNE9,CRBN,CRELD1,EDEM1,EGOT,EMC3,FANCD2,FBLN2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100507582,LOC401052,LOC440944,LRRN1,LSM3,MIR4790,MIR885,MKRN2,MTMR14,NUP210,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SETMAR,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TRNT1,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC chr3 1 14700000 Deletion Biliary cancer Array CGH 19435499 ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,C3orf24,C3orf32,CAMK1,CAND2,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CNTN4,CNTN4-AS2,CNTN6,CPNE9,CRBN,CRELD1,EDEM1,EGOT,EMC3,FANCD2,FBLN2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100507582,LOC401052,LOC440944,LRRN1,LSM3,MIR4790,MIR885,MKRN2,MTMR14,NUP210,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SETMAR,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TRNT1,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC chr3 114717763 114717848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114719249 114791449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114733908 114831111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114733908 114831111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114734183 114830960 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB20 chr3 114778957 114779057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB20 chr3 114820310 115437012 LOH Normal High-resolution SNP genotyping 21211785 GAP43,ZBTB20 chr3 114834241 114834436 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB20 chr3 114834241 114834436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114849922 114898183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114849922 114898183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB20 chr3 114849922 114898183 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ZBTB20 chr3 114852547 114852870 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ZBTB20 chr3 114856481 114861541 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB20 chr3 114860921 114865922 Loss Autism 1M Ailent CGH whole-genome array 21865298 ZBTB20 chr3 114866189 114866287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 114920531 114947786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 114920531 114947786 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 114920531 114947786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 114923062 114923162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 114948598 115013586 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 114948598 115013591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 114948598 115013591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115000000 118800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GAP43,IGSF11,IGSF11-AS1,LSAMP,LSAMP-AS3 chr3 115000000 118800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GAP43,IGSF11,IGSF11-AS1,LSAMP,LSAMP-AS3 chr3 115000000 118800000 Microdeletion Characteristic facial feature FISH 22180640 GAP43,IGSF11,IGSF11-AS1,LSAMP,LSAMP-AS3 chr3 115000000 118800000 Microdeletion Developmental delay FISH 22180640 GAP43,IGSF11,IGSF11-AS1,LSAMP,LSAMP-AS3 chr3 115000000 118800000 Microdeletion hypoplastic male genitals FISH 22180640 GAP43,IGSF11,IGSF11-AS1,LSAMP,LSAMP-AS3 chr3 115000000 118800000 Microdeletion postnatal overgrowth FISH 22180640 GAP43,IGSF11,IGSF11-AS1,LSAMP,LSAMP-AS3 chr3 115000000 199501827 Gain Normal Human genome CGH 36k ARRAY PLATFORM 22144094 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATR,B3GALNT1,B3GNT5,B4GALT4,BCHE,BCL6,BDH1,BFSP2,BPESC1,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC58,CCNL1,CCRL1,CD80,CD86,CDV3,CEP19,CEP63,CEP70,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CRYGS,CSTA,DBR1,DCUN1D1,DGKG,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DTX3L,DVL3,DZIP1L,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GAP43,GATA2,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR149,GPR156,GPR160,GPR171,GPR87,GRK7,GSK3B,GTF2E1,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339874,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR4788,MIR4789,MIR4797,MIR5002,MIR5092,MIR5186,MIR548H2,MIR548I1,MIR551B,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYLK,MYLK-AS1,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,OPA1,OPA1-AS1,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PYDC2,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST6GAL1,STAG1,STXBP5L,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFRC,THPO,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBTB38,ZDHHC19,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZXDC chr3 115040370 115148710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 115040447 115148710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115040447 115148710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115041366 115041424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115051211 115051311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115086835 115087568 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 115086970 115087568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115135568 115135668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115149438 115164515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115149438 115164515 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 115149438 115164515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115165676 115258150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115165676 115258150 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 115165676 115258150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115168634 115168717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115174032 115174112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115175728 115175828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115202439 115202539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115215933 115215965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115258301 115289954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115258301 115289954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115258301 115289956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 115259082 115259182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115268933 115668229 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GAP43,LSAMP chr3 115268933 115934594 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GAP43,LSAMP chr3 115290454 115290508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115304786 115305126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 115319997 115320097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 115330247 115380446 Gain and loss Pancreatic cancer SNP array 17952125 GAP43 chr3 115330247 115380589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAP43 chr3 115330247 115380589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAP43 chr3 115336712 115337037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 11534032 11566187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATG7 chr3 115382919 115383065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAP43 chr3 115383081 115383198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAP43 chr3 115404001 124892494 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ADCY5,ADPRH,ARGFX,ARHGAP31,B4GALT4,C3orf30,CASR,CCDC14,CCDC58,CD80,CD86,COX17,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FBXO40,FSTL1,GAP43,GOLGB1,GPR156,GSK3B,GTF2E1,HCLS1,HEG1,HGD,HSPBAP1,IGSF11,IGSF11-AS1,ILDR1,IQCB1,ITGB5,KALRN,KPNA1,LOC100129550,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MIR198,MIR5002,MIR5092,MUC13,MYLK,MYLK-AS1,NDUFB4,NR1I2,PARP14,PARP15,PARP9,PDIA5,PLA1A,POGLUT1,POLQ,POPDC2,PTPLB,RABL3,ROPN1,SEC22A,SEMA5B,SLC12A8,SLC15A2,STXBP5L,TIMMDC1,TMEM39A,UMPS,UPK1B,WDR5B chr3 115404001 124892494 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ADCY5,ADPRH,ARGFX,ARHGAP31,B4GALT4,C3orf30,CASR,CCDC14,CCDC58,CD80,CD86,COX17,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FBXO40,FSTL1,GAP43,GOLGB1,GPR156,GSK3B,GTF2E1,HCLS1,HEG1,HGD,HSPBAP1,IGSF11,IGSF11-AS1,ILDR1,IQCB1,ITGB5,KALRN,KPNA1,LOC100129550,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MIR198,MIR5002,MIR5092,MUC13,MYLK,MYLK-AS1,NDUFB4,NR1I2,PARP14,PARP15,PARP9,PDIA5,PLA1A,POGLUT1,POLQ,POPDC2,PTPLB,RABL3,ROPN1,SEC22A,SEMA5B,SLC12A8,SLC15A2,STXBP5L,TIMMDC1,TMEM39A,UMPS,UPK1B,WDR5B chr3 115410390 115410422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAP43 chr3 115429712 115429812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAP43 chr3 115436168 115439115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAP43 chr3 115436168 115439115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAP43 chr3 115437790 115438611 Gain and loss Pancreatic cancer SNP array 17952125 GAP43 chr3 115492596 115509826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 115495398 115511038 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115495398 115511038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 11550501 11587000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATG7 chr3 115506749 115509270 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 115518012 115518106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 115540215 116348817 Gain and loss Pancreatic cancer SNP array 17952125 LSAMP chr3 115540230 116348817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LSAMP chr3 115540230 116348817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LSAMP chr3 115580195 115648721 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LSAMP chr3 115616079 115661169 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LSAMP chr3 115616635 115651228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSAMP chr3 115681536 115681636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 115711726 115711826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 11572544 11737037 Gain and loss Pancreatic cancer SNP array 17952125 ATG7,VGLL4 chr3 11572544 11737205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATG7,VGLL4 chr3 11572544 11737205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATG7,VGLL4 chr3 115747392 115747492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 115809099 115809199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 115819455 126878427 Substitutions and indels small cell lung cancer array-CGH 20016488 ADCY5,ADPRH,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ARGFX,ARHGAP31,B4GALT4,C3orf22,C3orf30,CASR,CCDC14,CCDC37,CCDC58,CD80,CD86,CHCHD6,CHST13,COX17,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FAM86JP,FBXO40,FSTL1,GOLGB1,GPR156,GSK3B,GTF2E1,HCLS1,HEG1,HGD,HSPBAP1,IGSF11,IGSF11-AS1,ILDR1,IQCB1,ITGB5,KALRN,KLF15,KPNA1,LOC100129550,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MIR198,MIR5002,MIR5092,MIR548I1,MUC13,MYLK,MYLK-AS1,NDUFB4,NR1I2,NUP210P1,OSBPL11,PARP14,PARP15,PARP9,PDIA5,PLA1A,PLXNA1,POGLUT1,POLQ,POPDC2,PTPLB,RABL3,ROPN1,ROPN1B,SEC22A,SEMA5B,SLC12A8,SLC15A2,SLC41A3,SNX4,STXBP5L,TIMMDC1,TMEM39A,TXNRD3,TXNRD3NB,UMPS,UPK1B,UROC1,WDR5B,ZNF148,ZXDC chr3 115819518 115820518 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 LSAMP chr3 115822479 115822579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 115873512 115873607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 11588967 11589452 Gain and loss Pancreatic cancer SNP array 17952125 ATG7 chr3 115949165 115949488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LSAMP chr3 115981971 115982971 Gain Chordoma References 21215367 LSAMP chr3 116003414 116003514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 116023140 116023240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 11612517 12558068 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PPARG,SYN2,TAMM41,TIMP4,TSEN2,VGLL4 chr3 116134773 116162034 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSAMP chr3 116138461 116151695 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LSAMP chr3 116139643 116151291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LSAMP chr3 116143270 116143622 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LSAMP chr3 116143282 116151640 Loss Normal Birdsuite, version 1.5.2 22087296 LSAMP chr3 116156391 116156476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSAMP chr3 11620792 15395066 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C3orf20,CAND2,CAPN7,CCDC174,CHCHD4,COL6A4P1,FBLN2,FGD5,FGD5-AS1,GRIP2,HDAC11,IQSEC1,LINC00620,LOC100129480,LOC100132526,LOC100505696,LSM3,MKRN2,MRPS25,NR2C2,NUP210,PPARG,RAF1,RPL32,SH3BP5,SLC6A6,SNORA7A,SYN2,TAMM41,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,VGLL4,WNT7A,XPC,ZFYVE20 chr3 116246578 116288382 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 NOT_FOUND chr3 116257309 116257388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116318414 116574650 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LSAMP-AS3 chr3 116320945 116321035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116321709 116323026 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 116322505 116323123 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 116322505 116323123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 116347111 116347192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116347765 116574650 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LSAMP-AS3 chr3 116358293 116358393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116366249 116574650 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LSAMP-AS3 chr3 1 16400000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,DPH3,EAF1,EDEM1,EGOT,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC401052,LOC440944,LRRN1,LSM3,METTL6,MIR4270,MIR4790,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NR2C2,NUP210,OGG1,OXNAD1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RFTN1,RPL32,RPUSD3,SEC13,SETD5,SETMAR,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TRNT1,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC,ZFYVE20 chr3 116417029 118824534 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 IGSF11,IGSF11-AS1,LSAMP-AS3 chr3 11641855 11641955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VGLL4 chr3 116421917 116421990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116425486 121920030 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-425K arrays 21546498 ADPRH,ARGFX,ARHGAP31,B4GALT4,C3orf30,CASR,CD80,CD86,COX17,EAF2,FBXO40,FSTL1,GOLGB1,GPR156,GSK3B,GTF2E1,HCLS1,HGD,IGSF11,IGSF11-AS1,ILDR1,IQCB1,LRRC58,LSAMP-AS3,MAATS1,MIR198,NDUFB4,NR1I2,PLA1A,POGLUT1,POLQ,POPDC2,RABL3,SLC15A2,STXBP5L,TIMMDC1,TMEM39A,UPK1B chr3 116439373 116439473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116449436 116449496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116480662 116481397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 116480662 116481423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 116503657 116503757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116506926 116507266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 116609952 116878941 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 116638759 116638848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116713519 116713559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116716771 116727502 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 116717632 116892077 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 116717632 116892077 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 116801831 116801931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116805444 116805544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116821720 116821820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116824861 116923024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 116824861 116923024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 116825142 116923024 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 116884659 116884726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 116900556 120107320 Deletion Cancer Affymetrix 250K Sty array 20164920 ADPRH,ARHGAP31,B4GALT4,C3orf30,CD80,COX17,GPR156,GSK3B,IGSF11,IGSF11-AS1,LRRC58,MAATS1,NR1I2,PLA1A,POGLUT1,POPDC2,TIMMDC1,TMEM39A,UPK1B chr3 116916724 116917024 Loss Chordoma References 21215367 NOT_FOUND chr3 116922698 120103518 Deletion Normal Arbitrated Peel-off 21527027 ADPRH,ARHGAP31,B4GALT4,C3orf30,CD80,COX17,GPR156,GSK3B,IGSF11,IGSF11-AS1,LRRC58,MAATS1,NR1I2,PLA1A,POGLUT1,POPDC2,TIMMDC1,TMEM39A,UPK1B chr3 116922698 120103518 Deletion Normal GeneGISTIC 21527027 ADPRH,ARHGAP31,B4GALT4,C3orf30,CD80,COX17,GPR156,GSK3B,IGSF11,IGSF11-AS1,LRRC58,MAATS1,NR1I2,PLA1A,POGLUT1,POPDC2,TIMMDC1,TMEM39A,UPK1B chr3 116922698 120103518 Deletion Normal Standard peel-off 21527027 ADPRH,ARHGAP31,B4GALT4,C3orf30,CD80,COX17,GPR156,GSK3B,IGSF11,IGSF11-AS1,LRRC58,MAATS1,NR1I2,PLA1A,POGLUT1,POPDC2,TIMMDC1,TMEM39A,UPK1B chr3 116924363 116924463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 116965308 116965398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117011853 117646568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 117011853 117646568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 117011854 117646568 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 117025568 117025668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117039405 117039695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 117039407 117039696 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 117039407 117039696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 117093054 117159312 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 117134073 117134173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117135934 117136034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117139886 117139986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117144499 117144573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117155300 117811221 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117160434 117160534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117173391 117173441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117194753 117194853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117197263 117973475 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 117285007 117477191 Loss Autism qPCR, Agilent 1M(seems mosaic) 20531469 NOT_FOUND chr3 117300000 125800000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ADCY5,ADPRH,ALG1L,ARGFX,ARHGAP31,B4GALT4,C3orf30,CASR,CCDC14,CCDC58,CD80,CD86,COX17,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FAM86JP,FBXO40,FSTL1,GOLGB1,GPR156,GSK3B,GTF2E1,HCLS1,HEG1,HGD,HSPBAP1,IGSF11,IGSF11-AS1,ILDR1,IQCB1,ITGB5,KALRN,KPNA1,LOC100129550,LRRC58,MAATS1,MIR198,MIR5002,MIR5092,MIR548I1,MUC13,MYLK,MYLK-AS1,NDUFB4,NR1I2,OSBPL11,PARP14,PARP15,PARP9,PDIA5,PLA1A,POGLUT1,POLQ,POPDC2,PTPLB,RABL3,ROPN1,ROPN1B,SEC22A,SEMA5B,SLC12A8,SLC15A2,SLC41A3,SNX4,STXBP5L,TIMMDC1,TMEM39A,UMPS,UPK1B,WDR5B,ZNF148 chr3 117314503 117317975 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 117334062 117335062 Gain Chordoma References 21215367 NOT_FOUND chr3 11736180 11736280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VGLL4 chr3 117450906 117500426 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 117454132 117585789 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117469640 117515315 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 117520637 117525922 Deletion Glioblastoma multiforme Array CGH 19115005 NOT_FOUND chr3 117551943 118643645 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 IGSF11 chr3 11757247 11759276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VGLL4 chr3 117572952 117573052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117586473 117718870 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117624820 117790232 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 117639014 117888889 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117651359 117878806 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117676301 118464747 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117682660 117707128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 117687525 117687865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 117689415 117698429 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 117712301 118345185 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 117722695 118402860 Deletion Cancer ultra-high resolution array CGH 21272361 NOT_FOUND chr3 117724125 118603904 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117740631 127480414 Copy number Lung cancer paired-end sequencing 18438408 ABTB1,ADCY5,ADPRH,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ARGFX,ARHGAP31,B4GALT4,C3orf22,C3orf30,CASR,CCDC14,CCDC37,CCDC58,CD80,CD86,CHCHD6,CHST13,COX17,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FAM86JP,FBXO40,FSTL1,GOLGB1,GPR156,GSK3B,GTF2E1,HCLS1,HEG1,HGD,HSPBAP1,IGSF11,IGSF11-AS1,ILDR1,IQCB1,ITGB5,KALRN,KLF15,KPNA1,LOC100129550,LRRC58,MAATS1,MCM2,MGLL,MIR198,MIR5002,MIR5092,MIR548I1,MUC13,MYLK,MYLK-AS1,NDUFB4,NR1I2,NUP210P1,OSBPL11,PARP14,PARP15,PARP9,PDIA5,PLA1A,PLXNA1,PODXL2,POGLUT1,POLQ,POPDC2,PTPLB,RABL3,ROPN1,ROPN1B,SEC22A,SEMA5B,SLC12A8,SLC15A2,SLC41A3,SNX4,STXBP5L,TIMMDC1,TMEM39A,TPRA1,TXNRD3,TXNRD3NB,UMPS,UPK1B,UROC1,WDR5B,ZNF148,ZXDC chr3 117757962 117758285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 117764056 117764156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117780000 118400000 Loss Acute lymphoblastic leukemia - 21339820 NOT_FOUND chr3 117784147 117784367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 117784147 117784367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 117805316 118350853 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117818726 118466540 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117847282 117847942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 117847434 117847877 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 117847604 118383109 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117850460 117850530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117856497 118483625 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117861317 117960959 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117872305 118153080 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117932550 118382899 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117940010 117940110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117953525 118037192 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117982193 117982281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 117984454 118638135 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 IGSF11 chr3 117986516 118539677 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 117999463 118098130 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr3 11800000 142400000 Loss Normal Human genome CGH 45k ARRAY PLATFORM 22144094 A4GNT,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACOX2,ACPL2,ACPP,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD28,ANO10,APEH,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARMC8,ARPP21,ASB14,ASTE1,ATG3,ATP1B3,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B4GALT4,BAP1,BBX,BFSP2,BOC,BPESC1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf27,C3orf30,C3orf35,C3orf36,C3orf37,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CAND2,CAPN7,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC48,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHMP2B,CHST13,CISH,CLASP2,CLDN18,CLDND1,CLEC3B,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COPB2,COPG1,COX17,CPNE4,CPOX,CRTAP,CRYBG3,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DIRC2,DLEC1,DNAH1,DNAH12,DNAJB8,DNAJB8-AS1,DNAJC13,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,EEFSEC,EFCAB12,EFHB,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM162A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FAM86HP,FAM86JP,FBLN2,FBXL2,FBXO40,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FYCO1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GK5,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GOLGB1,GORASP1,GP9,GPD1L,GPR128,GPR15,GPR156,GPR27,GPR62,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HSPBAP1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,IL20RB,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KPNA1,KRBOX1,KY,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00620,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129480,LOC100129550,LOC100132146,LOC100132526,LOC100287879,LOC100302640,LOC100505696,LOC100506994,LOC100507032,LOC152024,LOC152225,LOC201617,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC344595,LOC401074,LOC440970,LOC644990,LOC645206,LOC646498,LOC653712,LOC90246,LRIG1,LRRC2,LRRC3B,LRRC58,LRRFIP2,LRTM1,LSAMP,LSAMP-AS3,LSM3,LTF,LUST,LYZL4,LZTFL1,MAATS1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MBD4,MCM2,METTL6,MGLL,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR5002,MIR5092,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548I1,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR5704,MIR711,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPS22,MRPS25,MSL2,MST1,MST1R,MUC13,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYRIP,NAA50,NAT6,NBEAL2,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OXNAD1,OXSM,OXSR1,P4HTM,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PFKFB4,PHF7,PHLDB2,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCL2,PLCXD2,PLS1,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POPDC2,POU1F1,PP2D1,PPARG,PPM1M,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD54L2,RAF1,RARB,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFT1,RFTN1,RHO,RHOA,RNF123,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL24,RPL29,RPL32,RPL32P3,RPN1,RPP14,RPSA,RRP9,RTP3,RUVBL1,RYBP,RYK,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC22A,SEC22C,SEC61A1,SELK,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP7,SETD2,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SIDT1,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC6A20,SLC6A6,SLC9C1,SLCO2A1,SLMAP,SMARCC1,SNORA58,SNORA6,SNORA62,SNORA7A,SNORA7B,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SPATA12,SPCS1,SPICE1,SPINK8,SPSB4,SRPRB,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUSD5,SYN2,SYNPR,SYNPR-AS1,TAGLN3,TAMM41,TBC1D23,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TF,TFDP2,TFG,TGFBR2,TGM4,THOC7,THRB,TIGIT,TIMMDC1,TIMP4,TKT,TLR9,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM39A,TMEM40,TMEM42,TMEM43,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNNC1,TOMM70A,TOP2B,TOPBP1,TPRA1,TPRXL,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM71,TRMT10C,TSEN2,TTC21A,TUSC2,TWF2,TXNRD3,TXNRD3NB,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP19,USP4,VENTXP7,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR5B,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XRN1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC23,ZDHHC3,ZFYVE20,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 118008111 118165456 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118019154 118335159 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118020423 118033312 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr3 118043659 118043759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118045377 118045477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118050755 118561543 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 11806920 11863355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TAMM41 chr3 11806920 11863355 Gain and loss Pancreatic cancer SNP array 17952125 TAMM41 chr3 11806920 11863355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TAMM41 chr3 118070161 118070261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118076184 118312615 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 118085283 118137913 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118093916 118094916 Gain Osteosarcoma References 21215367 NOT_FOUND chr3 118096151 118154481 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118096151 118383109 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118132550 118306390 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 118133491 118629572 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 IGSF11 chr3 118139586 118139686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118144645 118145159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 118147498 118148498 Loss Chordoma References 21215367 NOT_FOUND chr3 118148603 118282084 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118161562 118460854 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 118166649 118166763 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 118166649 118166764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 118166651 118166762 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 118171993 118172082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118176335 118218683 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118186282 118300250 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 11820285 12019704 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 TAMM41 chr3 118217941 118218036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118218089 118218189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118226901 118353400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 118264707 118416541 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 118292826 118292926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118350853 118992063 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 B4GALT4,C3orf30,IGSF11,IGSF11-AS1,UPK1B chr3 118357027 118357109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118373203 118373303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118383109 118519645 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118384335 118384414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118425700 118519645 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118426816 118427816 Gain Osteosarcoma References 21215367 NOT_FOUND chr3 118428943 118481546 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118462067 118462167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 11850373 11878336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TAMM41 chr3 118515607 118515704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 118527696 119283235 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP31,B4GALT4,C3orf30,CD80,IGSF11,IGSF11-AS1,POGLUT1,TIMMDC1,TMEM39A,UPK1B chr3 118551039 118594854 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 118609751 118609851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 11862467 11863467 Loss Chordoma References 21215367 TAMM41 chr3 11863949 11899294 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TAMM41 chr3 118653738 118653838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF11 chr3 118684856 118684926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF11 chr3 118745742 118745848 Gain and loss Pancreatic cancer SNP array 17952125 IGSF11 chr3 118745742 118745848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF11 chr3 11875101 12876175 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAND2,LOC100129480,MKRN2,PPARG,RAF1,SYN2,TAMM41,TIMP4,TMEM40,TSEN2 chr3 118787169 119703701 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ADPRH,ARHGAP31,B4GALT4,C3orf30,CD80,COX17,GSK3B,IGSF11,MAATS1,NR1I2,PLA1A,POGLUT1,POPDC2,TIMMDC1,TMEM39A,UPK1B chr3 118800000 120500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADPRH,ARHGAP31,B4GALT4,C3orf30,CD80,COX17,FSTL1,GPR156,GSK3B,GTF2E1,HGD,IGSF11,LRRC58,MAATS1,MIR198,NDUFB4,NR1I2,PLA1A,POGLUT1,POPDC2,RABL3,TIMMDC1,TMEM39A,UPK1B chr3 118800000 120500000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ADPRH,ARHGAP31,B4GALT4,C3orf30,CD80,COX17,FSTL1,GPR156,GSK3B,GTF2E1,HGD,IGSF11,LRRC58,MAATS1,MIR198,NDUFB4,NR1I2,PLA1A,POGLUT1,POPDC2,RABL3,TIMMDC1,TMEM39A,UPK1B chr3 118841704 118841799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF11 chr3 118906759 118906827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UPK1B chr3 118945294 118945399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 B4GALT4 chr3 119000000 123800000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ADCY5,ADPRH,ARGFX,ARHGAP31,CASR,CCDC14,CCDC58,CD80,CD86,COX17,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FBXO40,FSTL1,GOLGB1,GPR156,GSK3B,GTF2E1,HCLS1,HGD,HSPBAP1,ILDR1,IQCB1,KPNA1,LOC100129550,LRRC58,MAATS1,MIR198,MYLK,MYLK-AS1,NDUFB4,NR1I2,PARP14,PARP15,PARP9,PDIA5,PLA1A,POGLUT1,POLQ,POPDC2,PTPLB,RABL3,ROPN1,SEC22A,SEMA5B,SLC15A2,STXBP5L,TIMMDC1,TMEM39A,WDR5B chr3 119012714 119012814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 119041326 119041395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP31 chr3 119046491 119046591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP31 chr3 119083010 199501827 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-408K arrays 21546498 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATR,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,BFSP2,BPESC1,C3orf22,C3orf27,C3orf33,C3orf36,C3orf37,C3orf43,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC58,CCNL1,CCRL1,CD80,CD86,CDV3,CEP19,CEP63,CEP70,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CRYGS,CSTA,DBR1,DCUN1D1,DGKG,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DTX3L,DVL3,DZIP1L,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GATA2,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR149,GPR156,GPR160,GPR171,GPR87,GRK7,GSK3B,GTF2E1,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IL20RB,ILDR1,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339874,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR4788,MIR4789,MIR4797,MIR5002,MIR5092,MIR5186,MIR548H2,MIR548I1,MIR551B,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYLK,MYLK-AS1,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,OPA1,OPA1-AS1,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PYDC2,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST6GAL1,STAG1,STXBP5L,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFRC,THPO,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBTB38,ZDHHC19,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZXDC chr3 119086948 119087048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP31 chr3 119142850 119142932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 119149166 119149260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 11915001 11933000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 119253314 119253384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD80 chr3 119268698 119268778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD80 chr3 119336969 119337058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLA1A chr3 119430783 119430835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAATS1 chr3 119458301 119458660 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 MAATS1 chr3 119534046 119534078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR1I2 chr3 119542501 120149700 Copy number Normal ReadDepth: A Parallel R Package 21305028 FSTL1,GPR156,GSK3B,LRRC58,MIR198 chr3 119557386 119557489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GSK3B chr3 119602372 122624408 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARGFX,CASR,CCDC58,CD86,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FBXO40,FSTL1,GOLGB1,GPR156,GSK3B,GTF2E1,HCLS1,HGD,HSPBAP1,ILDR1,IQCB1,KPNA1,LOC100129550,LRRC58,MIR198,NDUFB4,PARP14,PARP15,PARP9,POLQ,RABL3,SLC15A2,STXBP5L,WDR5B chr3 119618139 119618239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GSK3B chr3 119666720 119666810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GSK3B chr3 11969262 11969559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 11969264 11969559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 119764295 119764492 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 GSK3B chr3 1 198022430 Trisomy Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHL1,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR922,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 119818336 120037273 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GPR156 chr3 119829608 119829747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 119839824 119839924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1 199344050 Deletion Esophageal cancer affymetrix genechip human mapping 266K Nsp arrays 21851588 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHL1,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR922,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 1 199501827 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHL1,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR922,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 1 199501827 Copy number Uveal melanoma Multiplex ligation-dependent probe amplification 21693616 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHL1,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR922,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 1 199501827 Gain Glioblastoma multiforme aCGH 21080181 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHL1,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR922,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 1 199501827 Gain Medulloblastoma SNP arrays 21979893 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHL1,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR922,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 1 199501827 Gain Normal - 20616218 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHL1,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR922,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 119962177 119962209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR156 chr3 119963951 119964004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 119967742 120012571 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 12005579 13019238 LOH Normal High-resolution SNP genotyping 21211785 CAND2,IQSEC1,LOC100129480,MKRN2,PPARG,RAF1,RPL32,SNORA7A,SYN2,TIMP4,TMEM40,TSEN2 chr3 120085007 120116062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FSTL1,MIR198 chr3 120087881 120087970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 120102171 120306747 Gain and loss Pancreatic cancer SNP array 17952125 FSTL1,MIR198 chr3 120102173 120347588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSTL1,HGD,MIR198,NDUFB4 chr3 120102173 120347588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSTL1,HGD,MIR198,NDUFB4 chr3 120129623 120129655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL1 chr3 120170587 120170622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 12020862 12208532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYN2,TIMP4 chr3 12020862 12208532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYN2,TIMP4 chr3 120209267 120286290 Gain Normal 244K array 17666407 NOT_FOUND chr3 12021029 12207885 Gain and loss Pancreatic cancer SNP array 17952125 SYN2,TIMP4 chr3 120220858 120266025 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 120225213 120333683 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NDUFB4 chr3 120318768 120318981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFB4 chr3 120318956 120319180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFB4 chr3 120318959 120319038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDUFB4 chr3 120342178 120478373 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 GTF2E1,HGD,RABL3 chr3 120347687 120352992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HGD chr3 120347687 120352992 Gain and loss Pancreatic cancer SNP array 17952125 HGD chr3 120347687 120352992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HGD chr3 120375115 120406690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HGD,RABL3 chr3 120375115 120406690 Gain and loss Pancreatic cancer SNP array 17952125 HGD,RABL3 chr3 120375115 120406690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HGD,RABL3 chr3 120377401 122047200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARGFX,CASR,CD86,CSTA,EAF2,FBXO40,GOLGB1,GTF2E1,HCLS1,HGD,ILDR1,IQCB1,POLQ,RABL3,SLC15A2,STXBP5L chr3 12038778 15468042 Gain Urothelial carcinoma array CGH validated by FISH 21177765 C3orf20,CAND2,CAPN7,CCDC174,CHCHD4,COL6A4P1,FBLN2,FGD5,FGD5-AS1,GRIP2,HDAC11,IQSEC1,LINC00620,LOC100129480,LOC100132526,LOC100505696,LSM3,METTL6,MKRN2,MRPS25,NR2C2,NUP210,PPARG,RAF1,RPL32,SH3BP5,SLC6A6,SNORA7A,SYN2,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,WNT7A,XPC,ZFYVE20 chr3 120413279 120442442 Gain and loss Pancreatic cancer SNP array 17952125 RABL3 chr3 120413286 120442442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RABL3 chr3 120413286 120442442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RABL3 chr3 120413546 120413646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABL3 chr3 120421311 120557547 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GTF2E1,RABL3 chr3 120425482 120425582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABL3 chr3 120447610 120447695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RABL3 chr3 120472952 120473491 Gain and loss Pancreatic cancer SNP array 17952125 GTF2E1 chr3 120483510 120484149 Gain and loss Pancreatic cancer SNP array 17952125 GTF2E1 chr3 120495910 120619254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GTF2E1 chr3 120495910 120619254 Gain and loss Pancreatic cancer SNP array 17952125 GTF2E1 chr3 120495910 120619254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GTF2E1 chr3 120497732 120505859 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 GTF2E1 chr3 120500000 123400000 Copy number Normal - 21701786 ADCY5,ARGFX,CASR,CCDC58,CD86,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FBXO40,GOLGB1,GTF2E1,HCLS1,HSPBAP1,ILDR1,IQCB1,KPNA1,LOC100129550,MYLK,MYLK-AS1,PARP14,PARP15,PARP9,PDIA5,POLQ,PTPLB,SEC22A,SEMA5B,SLC15A2,STXBP5L,WDR5B chr3 120500000 123400000 Duplication Autism high-density microarrays 22241247 ADCY5,ARGFX,CASR,CCDC58,CD86,CSTA,DIRC2,DTX3L,EAF2,FAM162A,FBXO40,GOLGB1,GTF2E1,HCLS1,HSPBAP1,ILDR1,IQCB1,KPNA1,LOC100129550,MYLK,MYLK-AS1,PARP14,PARP15,PARP9,PDIA5,POLQ,PTPLB,SEC22A,SEMA5B,SLC15A2,STXBP5L,WDR5B chr3 120536152 120576978 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 120543371 120543477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 120543374 120543477 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 120577336 120618011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 120611257 120611336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 120631041 120665134 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120632391 120665161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120632391 120665161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120648141 120648241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP5L chr3 120670489 120696237 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120670489 120696240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120670489 120696240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120699135 120699235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP5L chr3 120700058 120725810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120700058 120725810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120700084 120725619 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120702214 120702273 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 STXBP5L chr3 120725830 120761171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120725830 120761171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120725835 120761139 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120730933 120731013 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120730933 120731013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120753687 121635891 LOH Normal High-resolution SNP genotyping 21211785 ARGFX,EAF2,FBXO40,GOLGB1,HCLS1,IQCB1,POLQ,SLC15A2,STXBP5L chr3 120780805 120791481 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120781213 120791481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120781213 120791481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120783754 120828594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STXBP5L chr3 120799424 120831341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120799424 120831341 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120799424 120831341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120833279 120836787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STXBP5L chr3 120834088 120836628 Loss Normal Birdsuite, version 1.5.2 22087296 STXBP5L chr3 120843596 120862127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120843596 120862127 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120843596 120862127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120857693 120857787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STXBP5L chr3 120871062 120878933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120871062 120878933 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120871062 120878933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120872435 120890093 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 STXBP5L chr3 120900901 120904600 Deletion Glioma mate-paired sequence 20126413 STXBP5L chr3 120902604 120903031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STXBP5L chr3 120902606 120903033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STXBP5L chr3 120904559 120968637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120904559 120968637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120904563 120968377 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120907745 120908464 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 STXBP5L chr3 120917024 120917705 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 STXBP5L chr3 120930617 120931617 Loss Chordoma References 21215367 STXBP5L chr3 120930878 120931178 Gain Chordoma References 21215367 STXBP5L chr3 1209687 2240472 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CNTN4,CNTN4-AS2,CNTN6 chr3 120982021 121020021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 120982021 121020021 Gain and loss Pancreatic cancer SNP array 17952125 STXBP5L chr3 120982021 121020021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STXBP5L chr3 121028215 121295954 Gain and loss Pancreatic cancer SNP array 17952125 ARGFX,POLQ,STXBP5L chr3 121028235 121295203 Copy number Bipolar disorder Reference 17953491 ARGFX,POLQ,STXBP5L chr3 121028235 121295203 Copy number Lung cancer - 20668451 ARGFX,POLQ,STXBP5L chr3 121028235 121295203 Gain or loss Breast cancer - 20668451 ARGFX,POLQ,STXBP5L chr3 121028235 121295203 Gain or loss Cancer - 20668451 ARGFX,POLQ,STXBP5L chr3 121028235 121295203 Gain or loss Lung cancer - 20668451 ARGFX,POLQ,STXBP5L chr3 121028235 121295203 Gain or loss Ovarian cancer - 20668451 ARGFX,POLQ,STXBP5L chr3 121028235 121295203 Gain or loss Pancreas cancer - 20668451 ARGFX,POLQ,STXBP5L chr3 121028235 121295203 Gain or loss Prostate cancer - 20668451 ARGFX,POLQ,STXBP5L chr3 121028238 121295954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARGFX,POLQ,STXBP5L chr3 121028238 121295954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARGFX,POLQ,STXBP5L chr3 121044859 121064116 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 STXBP5L chr3 121088811 121177353 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 POLQ,STXBP5L chr3 12111147 13019238 LOH Normal High-resolution SNP genotyping 21211785 CAND2,IQSEC1,LOC100129480,MKRN2,PPARG,RAF1,RPL32,SNORA7A,SYN2,TIMP4,TMEM40,TSEN2 chr3 121137861 121139550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STXBP5L chr3 1 2121282 Deletion Cancer Affymetrix 250K Sty array 20164920 CHL1,CNTN6 chr3 121259591 121259691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLQ chr3 121269313 121314388 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARGFX,FBXO40 chr3 12129654 12881209 LOH Normal High-resolution SNP genotyping 21211785 CAND2,LOC100129480,MKRN2,PPARG,RAF1,RPL32,SYN2,TIMP4,TMEM40,TSEN2 chr3 121312035 121312323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO40 chr3 121312045 121312323 Gain and loss Pancreatic cancer SNP array 17952125 FBXO40 chr3 121312045 121312323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO40 chr3 121323446 121323741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO40 chr3 121323446 121323743 Gain and loss Pancreatic cancer SNP array 17952125 FBXO40 chr3 121323446 121323743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXO40 chr3 121340398 121385805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBXO40,GOLGB1,HCLS1 chr3 121349412 121365821 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 HCLS1 chr3 121355348 144551988 Gain Oral cancer 105K CGH oligonucleotide array 21386901 A4GNT,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ADCY5,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,BFSP2,BPESC1,C3orf22,C3orf27,C3orf36,C3orf37,C3orf58,C3orf72,CASR,CCDC14,CCDC37,CCDC48,CCDC58,CCRL1,CD86,CDV3,CEP63,CEP70,CHCHD6,CHST13,CHST2,CLDN18,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COPB2,COPG1,CPNE4,CSTA,DBR1,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DTX3L,DZIP1L,EAF2,EEFSEC,EFCAB12,EPHB1,ESYT3,FAIM,FAM162A,FAM86HP,FAM86JP,FOXL2,GATA2,GK5,GOLGB1,GP9,GRK7,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HSPBAP1,IFT122,IL20RB,ILDR1,IQCB1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KLF15,KPNA1,KY,LOC100129550,LOC100289361,LOC100507032,LOC100507389,LOC339874,LOC653712,LOC90246,MBD4,MCM2,MGLL,MIR4788,MIR5002,MIR5092,MIR548I1,MIR5704,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYLK,MYLK-AS1,NCK1,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PAQR9,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PDIA5,PIK3CB,PIK3R4,PISRT1,PLS1,PLXNA1,PLXND1,PODXL2,PPP2R3A,PRR23A,PRR23B,PRR23C,PTPLB,RAB43,RAB6B,RAB7A,RASA2,RBP1,RBP2,RHO,RNF7,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,RYK,SEC22A,SEC61A1,SEMA5B,SLC12A8,SLC15A2,SLC25A36,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLCO2A1,SNORA58,SNORA7B,SNX4,SOX14,SPSB4,SRPRB,STAG1,TF,TFDP2,TMCC1,TMEM108,TOPBP1,TPRA1,TRH,TRIM42,TRPC1,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UROC1,WDR5B,XRN1,ZBTB38,ZNF148,ZXDC chr3 121368495 121445655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGB1,HCLS1 chr3 121368495 121445655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGB1,HCLS1 chr3 121368569 121445635 Gain and loss Pancreatic cancer SNP array 17952125 GOLGB1,HCLS1 chr3 121374701 121379000 Deletion Glioma mate-paired sequence 20126413 HCLS1 chr3 121376674 121377134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HCLS1 chr3 121380210 121380289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 121411857 121411956 Gain and loss Pancreatic cancer SNP array 17952125 GOLGB1 chr3 121411857 121411958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGB1 chr3 121421735 121421835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GOLGB1 chr3 121466775 121636871 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EAF2,GOLGB1,IQCB1,SLC15A2 chr3 121499170 121499202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCB1 chr3 121526266 121550876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQCB1 chr3 121528858 121528958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCB1 chr3 121531624 121550876 Gain and loss Pancreatic cancer SNP array 17952125 IQCB1 chr3 121549144 121594153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EAF2,IQCB1 chr3 121568809 121568909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EAF2 chr3 121595817 121652533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EAF2,SLC15A2 chr3 121595817 121652533 Gain and loss Pancreatic cancer SNP array 17952125 EAF2,SLC15A2 chr3 121595817 121652533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EAF2,SLC15A2 chr3 121597205 121597266 Gain and loss Pancreatic cancer SNP array 17952125 EAF2 chr3 121642432 121676065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC15A2 chr3 121644335 121647632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC15A2 chr3 12169578 12175851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYN2 chr3 12169578 12175851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYN2 chr3 12169582 12175851 Gain and loss Pancreatic cancer SNP array 17952125 SYN2 chr3 121714275 121714370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ILDR1 chr3 121714646 121714771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ILDR1 chr3 12171518 12171572 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SYN2 chr3 121717937 121762984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ILDR1 chr3 12174113 12174209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYN2 chr3 121745582 121745982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 121745582 121745982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 121757358 122624408 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CASR,CCDC58,CD86,CSTA,DIRC2,DTX3L,FAM162A,HSPBAP1,KPNA1,LOC100129550,PARP14,PARP15,PARP9,WDR5B chr3 121776806 121776886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD86 chr3 121797818 121803863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD86 chr3 121797818 121803863 Gain and loss Pancreatic cancer SNP array 17952125 CD86 chr3 121797818 121803863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD86 chr3 121817264 121817351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD86 chr3 121829705 121884018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD86 chr3 121829705 121884018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD86 chr3 121829709 121883815 Gain and loss Pancreatic cancer SNP array 17952125 CD86 chr3 121834809 121834909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CD86 chr3 12183975 12184075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYN2 chr3 121843046 121843141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 121888218 121944074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASR chr3 121888218 121944074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASR chr3 121888765 121944074 Gain and loss Pancreatic cancer SNP array 17952125 CASR chr3 121900000 129200000 Copy number Ovarian cancer 500K SNP array platform 18408720 ABTB1,ACAD9,ADCY5,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,C3orf22,C3orf27,C3orf37,CASR,CCDC14,CCDC37,CCDC48,CCDC58,CHCHD6,CHST13,CNBP,COPG1,CSTA,DIRC2,DNAJB8,DNAJB8-AS1,DTX3L,EEFSEC,EFCAB12,FAM162A,FAM86JP,GATA2,GP9,H1FX,H1FX-AS1,HEG1,HSPBAP1,IFT122,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KLF15,KPNA1,LOC100129550,LOC653712,LOC90246,MBD4,MCM2,MGLL,MIR5002,MIR5092,MIR548I1,MUC13,MYLK,MYLK-AS1,NUP210P1,OSBPL11,PARP14,PARP15,PARP9,PDIA5,PLXNA1,PODXL2,PTPLB,RAB43,RAB7A,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,SEC22A,SEC61A1,SEMA5B,SLC12A8,SLC41A3,SNORA7B,SNX4,TPRA1,TXNRD3,TXNRD3NB,UMPS,UROC1,WDR5B,ZNF148,ZXDC chr3 121900000 148900000 Copy number Colorectal cancer References 18645599 A4GNT,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ADCY5,AGTR1,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,BFSP2,BPESC1,C3orf22,C3orf27,C3orf36,C3orf37,C3orf58,C3orf72,CASR,CCDC14,CCDC37,CCDC48,CCDC58,CCRL1,CDV3,CEP63,CEP70,CHCHD6,CHST13,CHST2,CLDN18,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COPB2,COPG1,CP,CPA3,CPB1,CPNE4,CSTA,DBR1,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DTX3L,DZIP1L,EEFSEC,EFCAB12,EPHB1,ESYT3,FAIM,FAM162A,FAM86HP,FAM86JP,FOXL2,GATA2,GK5,GP9,GRK7,GYG1,H1FOO,H1FX,H1FX-AS1,HEG1,HLTF,HLTF-AS1,HPS3,HSPBAP1,IFT122,IL20RB,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KLF15,KPNA1,KY,LOC100129550,LOC100289361,LOC100507032,LOC100507389,LOC339874,LOC653712,LOC90246,MBD4,MCM2,MGLL,MIR4788,MIR5002,MIR5092,MIR548I1,MIR5704,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYLK,MYLK-AS1,NCK1,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PAQR9,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PDIA5,PIK3CB,PIK3R4,PISRT1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,PPP2R3A,PRR23A,PRR23B,PRR23C,PTPLB,RAB43,RAB6B,RAB7A,RASA2,RBP1,RBP2,RHO,RNF7,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,RYK,SEC22A,SEC61A1,SEMA5B,SLC12A8,SLC25A36,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLCO2A1,SNORA58,SNORA7B,SNX4,SOX14,SPSB4,SRPRB,STAG1,TF,TFDP2,TMCC1,TMEM108,TOPBP1,TPRA1,TRH,TRIM42,TRPC1,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UROC1,WDR5B,XRN1,ZBTB38,ZIC1,ZIC4,ZNF148,ZXDC chr3 121900000 167600000 Gain head and neck squamous cell carcinoma CGH 17671120 A4GNT,AADAC,AADACL2,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ADCY5,AGTR1,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,B3GALNT1,BCHE,BFSP2,BPESC1,C3orf22,C3orf27,C3orf33,C3orf36,C3orf37,C3orf55,C3orf58,C3orf72,C3orf79,C3orf80,CASR,CCDC14,CCDC37,CCDC48,CCDC58,CCNL1,CCRL1,CDV3,CEP63,CEP70,CHCHD6,CHST13,CHST2,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,COPG1,CP,CPA3,CPB1,CPNE4,CSTA,DBR1,DHX36,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DTX3L,DZIP1L,EEFSEC,EFCAB12,EIF2A,EPHB1,ESYT3,FAIM,FAM162A,FAM194A,FAM86HP,FAM86JP,FOXL2,GATA2,GFM1,GK5,GMPS,GP9,GPR149,GPR171,GPR87,GRK7,GYG1,H1FOO,H1FX,H1FX-AS1,HEG1,HLTF,HLTF-AS1,HPS3,HSPBAP1,IFT122,IFT80,IGSF10,IL12A,IL20RB,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KIAA1257,KLF15,KPNA1,KPNA4,KY,LEKR1,LOC100129550,LOC100289361,LOC100498859,LOC100507032,LOC100507389,LOC100507537,LOC201651,LOC339874,LOC339894,LOC401093,LOC646903,LOC647107,LOC653712,LOC730091,LOC90246,LXN,MBD4,MBNL1,MCM2,MED12L,MFSD1,MGLL,MIR15B,MIR16-2,MIR3919,MIR4788,MIR5002,MIR5092,MIR5186,MIR548H2,MIR548I1,MIR5704,MLF1,MME,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYLK,MYLK-AS1,NCK1,NEK11,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,NUP210P1,OSBPL11,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PARP14,PARP15,PARP9,PCCB,PCOLCE2,PDCD10,PDIA5,PFN2,PIK3CB,PIK3R4,PISRT1,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,PPM1L,PPP2R3A,PRR23A,PRR23B,PRR23C,PTPLB,PTX3,RAB43,RAB6B,RAB7A,RAP2B,RARRES1,RASA2,RBP1,RBP2,RHO,RNF13,RNF7,ROPN1,ROPN1B,RPL32P3,RPN1,RSRC1,RUVBL1,RYK,SCARNA7,SCHIP1,SEC22A,SEC61A1,SELT,SEMA5B,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SLC12A8,SLC25A36,SLC33A1,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLCO2A1,SLITRK3,SMC4,SNORA58,SNORA7B,SNX4,SOX14,SPSB4,SPTSSB,SRPRB,SSR3,STAG1,SUCNR1,TF,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM14E,TOPBP1,TPRA1,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UROC1,VEPH1,WDR49,WDR5B,WWTR1,WWTR1-AS1,XRN1,ZBBX,ZBTB38,ZIC1,ZIC4,ZNF148,ZXDC chr3 121923854 121923925 Gain and loss Pancreatic cancer SNP array 17952125 CASR chr3 121923854 121923925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASR chr3 121923927 121923994 Gain and loss Pancreatic cancer SNP array 17952125 CASR chr3 121923927 121923994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASR chr3 121943431 122065856 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CASR,CSTA chr3 121944248 121984606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASR chr3 121952059 121984605 Gain and loss Pancreatic cancer SNP array 17952125 CASR chr3 122007424 122008282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 122032930 122033029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 122036489 122071869 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSTA chr3 122105868 123010309 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ADCY5,DIRC2,DTX3L,FAM162A,HSPBAP1,KPNA1,LOC100129550,PARP14,PARP15,PARP9,PDIA5,SEC22A,SEMA5B,WDR5B chr3 122109609 122621338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DIRC2,DTX3L,FAM162A,HSPBAP1,KPNA1,LOC100129550,PARP14,PARP15,PARP9,WDR5B chr3 122109773 122621336 Gain and loss Pancreatic cancer SNP array 17952125 DIRC2,DTX3L,FAM162A,HSPBAP1,KPNA1,LOC100129550,PARP14,PARP15,PARP9,WDR5B chr3 122127957 122501716 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DTX3L,FAM162A,HSPBAP1,KPNA1,PARP14,PARP15,PARP9,WDR5B chr3 122238311 122238386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 122272396 122272496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARP9 chr3 122398916 122398996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 122422263 122422362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PARP14 chr3 122465368 122465468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPBAP1 chr3 122476216 122476295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPBAP1 chr3 122534448 122534548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC2 chr3 122549397 122549429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DIRC2 chr3 122613947 123200725 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-406K arrays 21546498 ADCY5,PDIA5,SEC22A,SEMA5B chr3 122625049 122625123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 122632964 122748178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA5B chr3 122632964 122748178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA5B chr3 122632973 122748178 Gain and loss Pancreatic cancer SNP array 17952125 SEMA5B chr3 122638639 122638739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA5B chr3 122647566 122647598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA5B chr3 122674763 122674812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA5B chr3 122695647 122695968 Gain and loss Pancreatic cancer SNP array 17952125 SEMA5B chr3 12273075 12317716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 12274504 12274953 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 122772251 122792159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122772251 122792159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122776044 122776127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 122779227 122784104 Loss Normal 244K array 17666407 NOT_FOUND chr3 122780901 122882100 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDIA5 chr3 122786447 122788101 Gain and loss Pancreatic cancer SNP array 17952125 PDIA5 chr3 122792831 122792929 Gain and loss Pancreatic cancer SNP array 17952125 PDIA5 chr3 122792831 122792929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122794656 122831829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122794656 122831829 Gain and loss Pancreatic cancer SNP array 17952125 PDIA5 chr3 122794656 122831829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122794859 122831829 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 PDIA5 chr3 122812654 122812859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122813498 123492620 LOH Normal High-resolution SNP genotyping 21211785 ADCY5,MYLK,MYLK-AS1,PDIA5,PTPLB,SEC22A chr3 122826190 122870474 Duplication Autism quantitative PCR 19404257 PDIA5 chr3 122832937 122862405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122832937 122862405 Gain and loss Pancreatic cancer SNP array 17952125 PDIA5 chr3 122832937 122862405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122846863 124445499 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCY5,CCDC14,KALRN,MIR5002,MYLK,MYLK-AS1,PDIA5,PTPLB,ROPN1,SEC22A chr3 122846863 124445499 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADCY5,CCDC14,KALRN,MIR5002,MYLK,MYLK-AS1,PDIA5,PTPLB,ROPN1,SEC22A chr3 122851626 122851726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDIA5 chr3 122855531 122855833 Gain and loss Pancreatic cancer SNP array 17952125 PDIA5 chr3 122855531 122855833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122855533 122855833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122857006 122857141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5 chr3 122857010 122857141 Gain and loss Pancreatic cancer SNP array 17952125 PDIA5 chr3 122857024 122857128 Gain and loss Pancreatic cancer SNP array 17952125 PDIA5 chr3 122858307 122858407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDIA5 chr3 122864738 122951292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDIA5,SEC22A chr3 122864738 122951292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDIA5,SEC22A chr3 122865631 122951292 Gain and loss Pancreatic cancer SNP array 17952125 PDIA5,SEC22A chr3 122871711 122871811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDIA5 chr3 122898984 122899084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 122905341 123215530 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADCY5,PTPLB,SEC22A chr3 122971300 123036616 Gain and loss Pancreatic cancer SNP array 17952125 ADCY5,SEC22A chr3 122971536 123036616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY5,SEC22A chr3 122971536 123036616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY5,SEC22A chr3 122983090 123574521 Loss Normal 244K array 17666407 ADCY5,MYLK,MYLK-AS1,PTPLB,SEC22A chr3 123019763 123435754 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 ADCY5,MYLK,MYLK-AS1,PTPLB chr3 123026701 123026796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY5 chr3 123036724 123088062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY5 chr3 123036724 123088062 Gain and loss Pancreatic cancer SNP array 17952125 ADCY5 chr3 123036724 123088062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY5 chr3 12304070 12450855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PPARG chr3 12304070 12450855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPARG chr3 12304070 12450855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPARG chr3 12304348 12450855 Gain or loss Breast cancer - 20668451 PPARG chr3 12304348 12450855 Gain or loss Cancer - 20668451 PPARG chr3 12304348 12450855 Gain or loss Lung cancer - 20668451 PPARG chr3 12304348 12450855 Gain or loss Ovarian cancer - 20668451 PPARG chr3 12304348 12450855 Gain or loss Pancreas cancer - 20668451 PPARG chr3 12304348 12450855 Gain or loss Prostate cancer - 20668451 PPARG chr3 123049482 123825110 LOH Normal High-resolution SNP genotyping 21211785 ADCY5,CCDC14,KALRN,MYLK,MYLK-AS1,PTPLB,ROPN1 chr3 12305589 12450847 Gain and loss Pancreatic cancer SNP array 17952125 PPARG chr3 123073301 123073389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY5 chr3 123095977 123143147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADCY5 chr3 123095977 123143147 Gain and loss Pancreatic cancer SNP array 17952125 ADCY5 chr3 123095977 123143147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADCY5 chr3 123097939 123098039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY5 chr3 123100000 125810000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 ADCY5,ALG1L,CCDC14,FAM86JP,HEG1,ITGB5,KALRN,MIR5002,MIR5092,MIR548I1,MUC13,MYLK,MYLK-AS1,OSBPL11,PTPLB,ROPN1,ROPN1B,SLC12A8,SLC41A3,SNX4,UMPS,ZNF148 chr3 123109801 124121800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADCY5,CCDC14,KALRN,MIR5002,MYLK,MYLK-AS1,PTPLB,ROPN1 chr3 123122915 123123293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADCY5 chr3 123132866 123132936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADCY5 chr3 123188861 123223720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPLB chr3 123188861 123223720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPLB chr3 123188861 123223735 Gain and loss Pancreatic cancer SNP array 17952125 PTPLB chr3 123209271 123209371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 123209281 123209426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 123226732 123226841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPLB chr3 123226733 123226840 Gain and loss Pancreatic cancer SNP array 17952125 PTPLB chr3 123226734 123226841 Gain and loss Pancreatic cancer SNP array 17952125 PTPLB chr3 123232182 123264346 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPLB chr3 123243312 131961221 Gain Prostate cancer Array CGH 18632612 ABTB1,ACAD9,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ASTE1,ATP2C1,C3orf22,C3orf27,C3orf37,CCDC14,CCDC37,CCDC48,CHCHD6,CHST13,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,FAM86JP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,HEG1,IFT122,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KLF15,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MCM2,MGLL,MIR5002,MIR5092,MIR548I1,MIR5704,MRPL3,MUC13,MYLK,MYLK-AS1,NEK11,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PIK3R4,PLXNA1,PLXND1,PODXL2,PTPLB,RAB43,RAB7A,RHO,ROPN1,ROPN1B,RPL32P3,RPN1,RUVBL1,SEC61A1,SLC12A8,SLC41A3,SNORA58,SNORA7B,SNX4,TMCC1,TPRA1,TRH,TXNRD3,TXNRD3NB,UMPS,UROC1,ZNF148,ZXDC chr3 123255329 123255429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPLB chr3 123256911 123322672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYLK-AS1,PTPLB chr3 123256911 123322672 Gain and loss Pancreatic cancer SNP array 17952125 MYLK-AS1,PTPLB chr3 123256911 123322672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYLK-AS1,PTPLB chr3 12326952 12327261 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 123273053 123273153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPLB chr3 123286276 123286376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPLB chr3 12328914 12396406 Gain Bladder cancer array-CGH 21909424 PPARG chr3 123304561 123869547 LOH Normal High-resolution SNP genotyping 21211785 CCDC14,KALRN,MIR5002,MYLK,MYLK-AS1,ROPN1 chr3 123345970 123346026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYLK,MYLK-AS1 chr3 123392925 123393014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYLK chr3 123411494 123411571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYLK chr3 123455485 123488032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYLK chr3 123455485 123488032 Gain and loss Pancreatic cancer SNP array 17952125 MYLK chr3 123455485 123488032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYLK chr3 123472228 123472328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYLK chr3 123483390 123483459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYLK chr3 123526701 123543501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYLK chr3 123526701 123543501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYLK chr3 123526773 123543201 Gain and loss Pancreatic cancer SNP array 17952125 MYLK chr3 123533313 175903303 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A4GNT,AADAC,AADACL2,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ACTRT3,AGTR1,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,B3GALNT1,BCHE,BFSP2,BPESC1,C3orf22,C3orf27,C3orf33,C3orf36,C3orf37,C3orf55,C3orf58,C3orf72,C3orf79,C3orf80,CCDC14,CCDC37,CCDC48,CCNL1,CCRL1,CDV3,CEP63,CEP70,CHCHD6,CHST13,CHST2,CLDN11,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,COPG1,CP,CPA3,CPB1,CPNE4,DBR1,DHX36,DNAJB8,DNAJB8-AS1,DNAJC13,DZIP1L,ECT2,EEFSEC,EFCAB12,EGFEM1P,EIF2A,EIF5A2,EPHB1,ESYT3,FAIM,FAM194A,FAM86HP,FAM86JP,FNDC3B,FOXL2,GATA2,GFM1,GHSR,GK5,GMPS,GOLIM4,GP9,GPR149,GPR160,GPR171,GPR87,GRK7,GYG1,H1FOO,H1FX,H1FX-AS1,HEG1,HLTF,HLTF-AS1,HPS3,IFT122,IFT80,IGSF10,IL12A,IL20RB,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KIAA1257,KLF15,KPNA4,KY,LEKR1,LOC100128164,LOC100289361,LOC100498859,LOC100507032,LOC100507389,LOC100507537,LOC201651,LOC339874,LOC339894,LOC401093,LOC646168,LOC646903,LOC647107,LOC653712,LOC730091,LOC90246,LRRC31,LRRC34,LRRIQ4,LXN,MBD4,MBNL1,MCM2,MECOM,MED12L,MFSD1,MGLL,MIR15B,MIR16-2,MIR3919,MIR4788,MIR4789,MIR5002,MIR5092,MIR5186,MIR548H2,MIR548I1,MIR551B,MIR569,MIR5704,MLF1,MME,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYLK,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NCK1,NEK11,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,NUP210P1,OSBPL11,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PCCB,PCOLCE2,PDCD10,PFN2,PHC3,PIK3CB,PIK3R4,PISRT1,PLCH1,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,PPM1L,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PTX3,RAB43,RAB6B,RAB7A,RAP2B,RARRES1,RASA2,RBP1,RBP2,RHO,RNF13,RNF7,ROPN1,ROPN1B,RPL22L1,RPL32P3,RPN1,RSRC1,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SEC61A1,SEC62,SELT,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC12A8,SLC25A36,SLC2A2,SLC33A1,SLC35G2,SLC41A3,SLC7A14,SLC9A9,SLC9A9-AS1,SLCO2A1,SLITRK3,SMC4,SNORA58,SNORA7B,SNX4,SOX14,SPATA16,SPSB4,SPTSSB,SRPRB,SSR3,STAG1,SUCNR1,TERC,TF,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM212,TNFSF10,TNIK,TOPBP1,TPRA1,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UROC1,VEPH1,WDR49,WWTR1,WWTR1-AS1,XRN1,ZBBX,ZBTB38,ZIC1,ZIC4,ZNF148,ZXDC chr3 123538969 123539069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYLK chr3 123561125 123584764 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 MYLK chr3 123561126 123584764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYLK chr3 123561152 123584761 Gain and loss Pancreatic cancer SNP array 17952125 MYLK chr3 123573746 123618427 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYLK chr3 123585712 123611651 Deletion Intellectual disability 100k SNP Array 21811512 MYLK chr3 123585713 123611651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYLK chr3 123585713 123611651 Gain and loss Pancreatic cancer SNP array 17952125 MYLK chr3 123585713 123611651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYLK chr3 123616073 123617065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 123616073 123617065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 123621133 123621458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 123623438 123716474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC14,ROPN1 chr3 123623438 123716474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC14,ROPN1 chr3 123626646 123659993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC14 chr3 123628307 123716465 Gain and loss Pancreatic cancer SNP array 17952125 CCDC14,ROPN1 chr3 12369145 12369245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPARG chr3 123722038 123722183 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 123729460 123766114 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 123729460 123766114 Gain or loss Cancer - 20668451 NOT_FOUND chr3 123729460 123766114 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 123729460 123766114 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 123729460 123766114 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 123729460 123766114 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 123729463 123766114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 123729463 123766114 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 123729463 123766114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 123750879 124865147 LOH Normal High-resolution SNP genotyping 21211785 HEG1,ITGB5,KALRN,MIR5002,MUC13,SLC12A8,UMPS chr3 123765875 123776734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 123765875 123776734 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 123765875 123776734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 123765955 123775968 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 123765955 123775968 Gain or loss Cancer - 20668451 NOT_FOUND chr3 123765955 123775968 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 123765955 123775968 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 123765955 123775968 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 123765955 123775968 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 123765955 123775968 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 123775252 123775352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 123779138 123838226 Copy number Lung cancer - 20668451 KALRN chr3 123779138 123838226 Gain or loss Breast cancer - 20668451 KALRN chr3 123779138 123838226 Gain or loss Cancer - 20668451 KALRN chr3 123779138 123838226 Gain or loss Lung cancer - 20668451 KALRN chr3 123779138 123838226 Gain or loss Ovarian cancer - 20668451 KALRN chr3 123779138 123838226 Gain or loss Pancreas cancer - 20668451 KALRN chr3 123779138 123838226 Gain or loss Prostate cancer - 20668451 KALRN chr3 123779220 123837690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 123800000 125800000 Loss Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 ALG1L,FAM86JP,HEG1,ITGB5,KALRN,MIR5002,MIR5092,MIR548I1,MUC13,OSBPL11,ROPN1B,SLC12A8,SLC41A3,SNX4,UMPS,ZNF148 chr3 123800000 148900000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 A4GNT,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,AGTR1,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,BFSP2,BPESC1,C3orf22,C3orf27,C3orf36,C3orf37,C3orf58,C3orf72,CCDC37,CCDC48,CCRL1,CDV3,CEP63,CEP70,CHCHD6,CHST13,CHST2,CLDN18,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COPB2,COPG1,CP,CPA3,CPB1,CPNE4,DBR1,DNAJB8,DNAJB8-AS1,DNAJC13,DZIP1L,EEFSEC,EFCAB12,EPHB1,ESYT3,FAIM,FAM86HP,FAM86JP,FOXL2,GATA2,GK5,GP9,GRK7,GYG1,H1FOO,H1FX,H1FX-AS1,HEG1,HLTF,HLTF-AS1,HPS3,IFT122,IL20RB,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KLF15,KY,LOC100289361,LOC100507032,LOC100507389,LOC339874,LOC653712,LOC90246,MBD4,MCM2,MGLL,MIR4788,MIR5002,MIR5092,MIR548I1,MIR5704,MRAS,MRPL3,MRPS22,MSL2,MUC13,NCK1,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,NUP210P1,OSBPL11,PAQR9,PCCB,PCOLCE2,PIK3CB,PIK3R4,PISRT1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,PPP2R3A,PRR23A,PRR23B,PRR23C,RAB43,RAB6B,RAB7A,RASA2,RBP1,RBP2,RHO,RNF7,ROPN1B,RPL32P3,RPN1,RUVBL1,RYK,SEC61A1,SLC12A8,SLC25A36,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLCO2A1,SNORA58,SNORA7B,SNX4,SOX14,SPSB4,SRPRB,STAG1,TF,TFDP2,TMCC1,TMEM108,TOPBP1,TPRA1,TRH,TRIM42,TRPC1,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UROC1,XRN1,ZBTB38,ZIC1,ZIC4,ZNF148,ZXDC chr3 1 23800000 Deletion Medulloblastoma SNP arrays 21979893 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,DAZL,DPH3,EAF1,EDEM1,EFHB,EGOT,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC339862,LOC401052,LOC440944,LRRN1,LSM3,METTL6,MIR3714,MIR4270,MIR4790,MIR4791,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NR2C2,NUP210,OGG1,OXNAD1,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RFTN1,RPL32,RPUSD3,SATB1,SEC13,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TRNT1,TSEN2,TTLL3,UBE2E2,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZFYVE20,ZNF385D chr3 123803132 123803210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 123817214 123838226 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KALRN chr3 123817215 123838226 Gain and loss Pancreatic cancer SNP array 17952125 KALRN chr3 123877542 123877616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 123882361 123932377 Copy number Lung cancer - 20668451 KALRN chr3 123882361 123932377 Gain or loss Breast cancer - 20668451 KALRN chr3 123882361 123932377 Gain or loss Cancer - 20668451 KALRN chr3 123882361 123932377 Gain or loss Lung cancer - 20668451 KALRN chr3 123882361 123932377 Gain or loss Ovarian cancer - 20668451 KALRN chr3 123882361 123932377 Gain or loss Pancreas cancer - 20668451 KALRN chr3 123882361 123932377 Gain or loss Prostate cancer - 20668451 KALRN chr3 123882362 123932376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 123882362 123932376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 123896988 123932376 Gain and loss Pancreatic cancer SNP array 17952125 KALRN chr3 123934202 123934302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 123941536 123995340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 123941536 123995340 Gain and loss Pancreatic cancer SNP array 17952125 KALRN chr3 123941536 123995340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 123951909 123952007 Gain and loss Pancreatic cancer SNP array 17952125 KALRN chr3 123951909 123952007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 123959669 123992052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KALRN chr3 123961280 123961380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 12396201 12450644 Amplification or deletion Cancer Array CGH 17440070 PPARG chr3 123971367 123971422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 123988535 123988662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 123996332 124081446 Gain and loss Pancreatic cancer SNP array 17952125 KALRN chr3 123996597 124081451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 123996597 124081451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 12400000 14700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CAND2,CCDC174,CHCHD4,FBLN2,GRIP2,HDAC11,IQSEC1,LINC00620,LOC100129480,LOC100132526,LSM3,MKRN2,NUP210,PPARG,RAF1,RPL32,SLC6A6,SNORA7A,TMEM40,TMEM43,TPRXL,TSEN2,WNT7A,XPC chr3 12400000 14700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CAND2,CCDC174,CHCHD4,FBLN2,GRIP2,HDAC11,IQSEC1,LINC00620,LOC100129480,LOC100132526,LSM3,MKRN2,NUP210,PPARG,RAF1,RPL32,SLC6A6,SNORA7A,TMEM40,TMEM43,TPRXL,TSEN2,WNT7A,XPC chr3 124077821 124170592 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 KALRN chr3 124094641 124094741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 124100501 124365000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KALRN chr3 124106286 124106436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 124110730 124230142 Gain and loss Pancreatic cancer SNP array 17952125 KALRN chr3 124110732 124229266 Amplification Intellectual disability 100k SNP Array 21811512 KALRN chr3 124110733 124229266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 124110733 124229266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 124121801 126398800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,C3orf22,CCDC37,CHST13,FAM86JP,HEG1,ITGB5,KALRN,KLF15,MIR5092,MIR548I1,MUC13,NUP210P1,OSBPL11,ROPN1B,SLC12A8,SLC41A3,SNX4,TXNRD3,TXNRD3NB,UMPS,UROC1,ZNF148,ZXDC chr3 124128533 124128658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 124140009 124140109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 124142948 125532902 LOH Normal High-resolution SNP genotyping 21211785 HEG1,ITGB5,KALRN,MIR5092,MIR548I1,MUC13,OSBPL11,SLC12A8,SNX4,UMPS,ZNF148 chr3 124186982 124187067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 124208541 124208641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 124268599 124363640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 124268599 124363640 Gain and loss Pancreatic cancer SNP array 17952125 KALRN chr3 124268599 124363640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN chr3 124340483 124340558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 124370057 124370157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 124393183 124393278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KALRN chr3 124403001 124404000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KALRN chr3 124403465 124474043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KALRN,UMPS chr3 124403465 124474043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KALRN,UMPS chr3 124403499 124474043 Gain and loss Pancreatic cancer SNP array 17952125 KALRN,UMPS chr3 1244095 1420317 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CNTN6 chr3 124453232 124487816 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITGB5,UMPS chr3 124484001 124685000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HEG1,ITGB5,MUC13 chr3 124485481 124650082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITGB5,MUC13 chr3 124485481 124650082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITGB5,MUC13 chr3 124486089 124650082 Gain and loss Pancreatic cancer SNP array 17952125 ITGB5,MUC13 chr3 124488701 124488801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB5 chr3 124494539 124494639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB5 chr3 124509492 124509573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB5 chr3 124511948 124512085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGB5 chr3 124525892 128983062 Loss Prostate cancer Array CGH 18632612 ABTB1,ACAD9,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,C3orf22,C3orf27,CCDC37,CCDC48,CHCHD6,CHST13,CNBP,COPG1,DNAJB8,DNAJB8-AS1,EEFSEC,FAM86JP,GATA2,GP9,HEG1,ISY1,ISY1-RAB43,ITGB5,KBTBD12,KIAA1257,KLF15,LOC653712,LOC90246,MCM2,MGLL,MIR5092,MIR548I1,MUC13,NUP210P1,OSBPL11,PLXNA1,PODXL2,RAB43,RAB7A,ROPN1B,RPN1,RUVBL1,SEC61A1,SLC12A8,SLC41A3,SNX4,TPRA1,TXNRD3,TXNRD3NB,UROC1,ZNF148,ZXDC chr3 124657936 124702990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HEG1 chr3 124664469 125446338 LOH Normal High-resolution SNP genotyping 21211785 HEG1,MIR5092,OSBPL11,SLC12A8,SNX4,ZNF148 chr3 124670744 124670844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 124680216 124680599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 124691965 124719447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HEG1 chr3 124693087 124786616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEG1 chr3 124693087 124786616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEG1 chr3 124704839 124705240 Gain and loss Pancreatic cancer SNP array 17952125 HEG1 chr3 124719437 124719751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HEG1 chr3 124774081 125835988 LOH Normal High-resolution SNP genotyping 21211785 ALDH1L1,ALDH1L1-AS1,ALG1L,FAM86JP,HEG1,MIR5092,MIR548I1,OSBPL11,ROPN1B,SLC12A8,SLC41A3,SNX4,ZNF148 chr3 124811586 125085868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR5092,SLC12A8,ZNF148 chr3 124811586 125085868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5092,SLC12A8,ZNF148 chr3 124813832 125085839 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MIR5092,SLC12A8,ZNF148 chr3 124813835 125085839 Gain and loss Pancreatic cancer SNP array 17952125 MIR5092,SLC12A8,ZNF148 chr3 124814802 124814902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC12A8 chr3 124829501 124942500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR5092,SLC12A8 chr3 124901127 125539554 LOH Normal High-resolution SNP genotyping 21211785 MIR548I1,OSBPL11,SLC12A8,SNX4,ZNF148 chr3 124911314 125692681 LOH Normal High-resolution SNP genotyping 21211785 ALG1L,FAM86JP,MIR548I1,OSBPL11,ROPN1B,SLC12A8,SNX4,ZNF148 chr3 124912237 124912336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC12A8 chr3 12496244 12529346 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TSEN2 chr3 12500942 12549811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TSEN2 chr3 12500942 12549811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSEN2 chr3 12501010 12556122 Gain and loss Pancreatic cancer SNP array 17952125 TSEN2 chr3 12501028 12549811 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TSEN2 chr3 1250128 12549812 Copy number Autism exome sequencing 22495311 ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,C3orf24,C3orf32,CAMK1,CAV3,CIDEC,CIDECP,CNTN4,CNTN4-AS2,CNTN6,CPNE9,CRBN,CRELD1,EDEM1,EGOT,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,GRM7,HRH1,IL17RC,IL17RE,IL5RA,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LINC00606,LMCD1,LOC100288428,LOC100507582,LOC401052,LOC440944,LRRN1,MIR4790,MIR885,MTMR14,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SETMAR,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TRNT1,TSEN2,TTLL3,VGLL4,VHL chr3 125015614 125015744 Gain and loss Pancreatic cancer SNP array 17952125 ZNF148 chr3 125015614 125015744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF148 chr3 125056104 125079478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF148 chr3 125067555 125100222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF148 chr3 125070053 125076412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF148 chr3 125072447 125074607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF148 chr3 125081218 125081318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF148 chr3 125114963 125162945 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 125115258 125162809 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 125115258 125163254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 125115258 125163254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 125134054 125134143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 125161275 125161366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 125164898 125164993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 125170568 125192889 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 SNX4 chr3 125170571 125193674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX4 chr3 125170571 125193674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX4 chr3 125170692 125193674 Gain and loss Pancreatic cancer SNP array 17952125 SNX4 chr3 12522608 12522685 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 125257100 125257200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL11 chr3 125262369 125263369 Loss Chordoma References 21215367 OSBPL11 chr3 12527593 12527710 Gain and loss Pancreatic cancer SNP array 17952125 TSEN2 chr3 12527594 12527712 Gain and loss Pancreatic cancer SNP array 17952125 TSEN2 chr3 12527594 12527712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSEN2 chr3 125296274 125921007 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,FAM86JP,MIR548I1,OSBPL11,ROPN1B,SLC41A3 chr3 125296275 125721376 Gain and loss Pancreatic cancer SNP array 17952125 ALG1L,FAM86JP,MIR548I1,OSBPL11,ROPN1B chr3 125296275 125922726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,FAM86JP,MIR548I1,OSBPL11,ROPN1B,SLC41A3 chr3 125296275 125922726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,FAM86JP,MIR548I1,OSBPL11,ROPN1B,SLC41A3 chr3 12531205 12531303 Gain and loss Pancreatic cancer SNP array 17952125 TSEN2 chr3 12531205 12531303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TSEN2 chr3 125349784 126537059 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,C3orf22,CCDC37,CHCHD6,CHST13,FAM86JP,KLF15,MIR548I1,NUP210P1,ROPN1B,SLC41A3,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 125352173 125353173 Loss Chordoma References 21215367 NOT_FOUND chr3 125400000 127700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABTB1,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,C3orf22,CCDC37,CHCHD6,CHST13,FAM86JP,KBTBD12,KLF15,MCM2,MGLL,MIR548I1,NUP210P1,PLXNA1,PODXL2,ROPN1B,SLC41A3,TPRA1,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 125400000 127700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABTB1,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,C3orf22,CCDC37,CHCHD6,CHST13,FAM86JP,KBTBD12,KLF15,MCM2,MGLL,MIR548I1,NUP210P1,PLXNA1,PODXL2,ROPN1B,SLC41A3,TPRA1,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 125400000 127700000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ABTB1,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,C3orf22,CCDC37,CHCHD6,CHST13,FAM86JP,KBTBD12,KLF15,MCM2,MGLL,MIR548I1,NUP210P1,PLXNA1,PODXL2,ROPN1B,SLC41A3,TPRA1,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 12540051 12541238 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TSEN2 chr3 125541067 125585310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 125646552 127362898 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,C3orf22,CCDC37,CHCHD6,CHST13,FAM86JP,KLF15,MCM2,NUP210P1,PLXNA1,PODXL2,ROPN1B,SLC41A3,TPRA1,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 125706276 125922352 Gain and loss Pancreatic cancer SNP array 17952125 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,SLC41A3 chr3 125711810 125974349 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,SLC41A3 chr3 125730301 125731301 Gain Chordoma References 21215367 SLC41A3 chr3 12573571 12600205 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100129480,MKRN2,TSEN2 chr3 12573571 12600205 Gain and loss Pancreatic cancer SNP array 17952125 LOC100129480,MKRN2,TSEN2 chr3 12573594 12600205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100129480,MKRN2,TSEN2 chr3 12573594 12600205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100129480,MKRN2,TSEN2 chr3 125751030 125751106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC41A3 chr3 125751870 125752870 Loss Chordoma References 21215367 SLC41A3 chr3 125782638 126494752 Gain Normal Birdsuite, version 1.5.2 22087296 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,C3orf22,CCDC37,CHCHD6,CHST13,KLF15,NUP210P1,SLC41A3,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 125786195 125922725 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,SLC41A3 chr3 125800000 129200000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABTB1,ACAD9,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,C3orf22,C3orf27,C3orf37,CCDC37,CCDC48,CHCHD6,CHST13,CNBP,COPG1,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,GATA2,GP9,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,KLF15,LOC653712,LOC90246,MBD4,MCM2,MGLL,NUP210P1,PLXNA1,PODXL2,RAB43,RAB7A,RPL32P3,RPN1,RUVBL1,SEC61A1,SLC41A3,SNORA7B,TPRA1,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 125809768 125809868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC41A3 chr3 125833309 125833309 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ALDH1L1 chr3 125931903 125946318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 125931903 125946318 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 125931903 125946318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 125959186 125990026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 125964486 126088834 Gain and loss Pancreatic cancer SNP array 17952125 KLF15 chr3 125964488 126088834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLF15 chr3 125964488 126088834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLF15 chr3 125966642 127254388 Gain Autism - 20841430 C3orf22,CCDC37,CHCHD6,CHST13,KLF15,NUP210P1,PLXNA1,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 125966642 127256128 Gain Autism - 20841430 C3orf22,CCDC37,CHCHD6,CHST13,KLF15,NUP210P1,PLXNA1,TXNRD3,TXNRD3NB,UROC1,ZXDC chr3 125985653 125986653 Loss Chordoma References 21215367 NOT_FOUND chr3 125997366 125998366 Gain Chordoma References 21215367 NOT_FOUND chr3 12600099 12680700 Deletion Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 MKRN2,RAF1 chr3 12600099 12680700 Gain or loss Breast cancer - 20668451 MKRN2,RAF1 chr3 12600099 12680700 Gain or loss Cancer - 20668451 MKRN2,RAF1 chr3 12600099 12680700 Gain or loss Lung cancer - 20668451 MKRN2,RAF1 chr3 12600099 12680700 Gain or loss Ovarian cancer - 20668451 MKRN2,RAF1 chr3 12600099 12680700 Gain or loss Pancreas cancer - 20668451 MKRN2,RAF1 chr3 12600099 12680700 Gain or loss Prostate cancer - 20668451 MKRN2,RAF1 chr3 12600100 12680700 Copy number Autism exome sequencing 22495311 MKRN2,RAF1 chr3 12600108 12680614 Gain and loss Pancreatic cancer SNP array 17952125 MKRN2,RAF1 chr3 12600108 12680678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MKRN2,RAF1 chr3 12600108 12680678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MKRN2,RAF1 chr3 12600108 12680678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MKRN2,RAF1 chr3 126090202 126090343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 12609117 12783341 Allelic imbalance Normal High-resolution SNP genotyping 21211785 MKRN2,RAF1,TMEM40 chr3 12609117 12783341 Copy number gain Normal High-resolution SNP genotyping 21211785 MKRN2,RAF1,TMEM40 chr3 126106979 126136270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC37 chr3 126106979 126136270 Gain and loss Pancreatic cancer SNP array 17952125 CCDC37 chr3 126106979 126136270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC37 chr3 126142584 126147192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC37 chr3 126145997 126146052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC37 chr3 126167244 126257492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHST13,UROC1,ZXDC chr3 126167244 126257492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST13,UROC1,ZXDC chr3 126169011 126231001 Gain and loss Pancreatic cancer SNP array 17952125 UROC1,ZXDC chr3 126195738 126195770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 126215674 126215753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UROC1 chr3 126216669 126216763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UROC1 chr3 126219423 126219523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UROC1 chr3 126259883 126259972 Gain and loss Pancreatic cancer SNP array 17952125 CHST13 chr3 126259883 126259972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHST13 chr3 126279683 126308102 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TXNRD3NB chr3 126284169 126414299 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NUP210P1,TXNRD3,TXNRD3NB chr3 126284170 126414303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP210P1,TXNRD3,TXNRD3NB chr3 126284170 126414303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP210P1,TXNRD3,TXNRD3NB chr3 126284172 126414273 Gain and loss Pancreatic cancer SNP array 17952125 NUP210P1,TXNRD3,TXNRD3NB chr3 126286621 126293721 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TXNRD3NB chr3 12629892 12680365 Gain and loss Pancreatic cancer SNP array 17952125 RAF1 chr3 126320631 126320732 Gain and loss Pancreatic cancer SNP array 17952125 TXNRD3NB chr3 126320631 126320733 Gain and loss Pancreatic cancer SNP array 17952125 TXNRD3NB chr3 126320631 126320734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TXNRD3NB chr3 126322168 126884942 LOH Normal High-resolution SNP genotyping 21211785 CHCHD6,NUP210P1,PLXNA1,TXNRD3,TXNRD3NB chr3 126370801 126375300 Deletion Glioma mate-paired sequence 20126413 TXNRD3 chr3 126372740 126373509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TXNRD3 chr3 126372742 126373510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TXNRD3 chr3 126394301 126394401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 126398801 127461400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABTB1,CHCHD6,MCM2,MGLL,PLXNA1,PODXL2,TPRA1 chr3 1 26400000 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,DAZL,DPH3,EAF1,EDEM1,EFHB,EGOT,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LRRN1,LSM3,METTL6,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OGG1,OXNAD1,OXSM,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RFTN1,RPL15,RPL32,RPUSD3,SATB1,SEC13,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TOP2B,TPRXL,TRNT1,TSEN2,TTLL3,UBE2E1,UBE2E2,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZFYVE20,ZNF385D chr3 126417901 126421600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 126418984 126419851 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 126418986 126419853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 126427205 126576888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHCHD6 chr3 126427205 126576888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHCHD6 chr3 126433609 126576785 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD6 chr3 126434542 126434636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHCHD6 chr3 126435054 126435054 Copy number Prostate cancer Illumina GA II sequencer 21307934 CHCHD6 chr3 126471851 126471951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHCHD6 chr3 12649233 12649331 Gain and loss Pancreatic cancer SNP array 17952125 RAF1 chr3 12649233 12649331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAF1 chr3 126498954 126499284 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHCHD6 chr3 126512485 126512706 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD6 chr3 126526038 126526121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHCHD6 chr3 126647595 126647695 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD6 chr3 126647595 126647695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHCHD6 chr3 126648185 126721748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHCHD6,PLXNA1 chr3 126648185 126721748 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD6,PLXNA1 chr3 126648185 126721748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHCHD6,PLXNA1 chr3 126650217 126650485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHCHD6 chr3 126670253 126670344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHCHD6 chr3 126702087 126702126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 126718513 126718617 Gain and loss Pancreatic cancer SNP array 17952125 PLXNA1 chr3 126718513 126718618 Gain and loss Pancreatic cancer SNP array 17952125 PLXNA1 chr3 126718513 126718620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXNA1 chr3 126729779 126729835 Gain and loss Pancreatic cancer SNP array 17952125 PLXNA1 chr3 126729779 126729835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXNA1 chr3 126730392 126796624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLXNA1 chr3 126730392 126796624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXNA1 chr3 126730394 126796624 Gain and loss Pancreatic cancer SNP array 17952125 PLXNA1 chr3 126858285 126870175 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 126881113 127112518 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 126881501 126885500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 126881683 126882578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 126884091 127161195 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 126885501 126967500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 126905008 126905925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 126905016 126905933 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 126907162 126949237 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 126926175 126926825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 126926183 126926833 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 126926298 126941452 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 126931577 126931667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 126946642 126949420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 126946650 126949428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 126951360 126985406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 126957627 126957981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 126958012 127103540 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 126963337 126981462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 126963671 126985680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 126964368 126989382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 126966058 126966118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 126967501 126969000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 126982259 126982359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 126991937 126992085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 126996647 126997122 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127000260 131353408 Duplication Intellectual disability Array CGH 22102821 ABTB1,ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MCM2,MGLL,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,PODXL2,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TPRA1,TRH chr3 127024031 127185454 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 127033962 127034061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127067492 127067592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 127076970 127077064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 127098285 127100296 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127105001 127160500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 127118133 127131555 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 127118163 127131555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127118171 127131563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127130807 127138572 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 127130808 127138572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127130808 127138572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127135138 127136087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127142135 127142200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 127148056 127194696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 127155055 127161736 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 127155924 127158383 Loss Normal 244K array 17666407 NOT_FOUND chr3 127156061 127158641 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 127156073 127158653 Copy number Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 127156073 127158653 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 127160501 127163000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 127163001 127303000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TPRA1 chr3 127167003 131200767 Substitutions and indels small cell lung cancer array-CGH 20016488 ABTB1,ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MCM2,MGLL,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,PODXL2,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TPRA1,TRH chr3 127170718 127184982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127170718 127184982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127170726 127184992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127174250 127174350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 127187089 127187184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 127189765 127204429 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 127189765 127204540 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 127189765 127205010 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 127189959 127190059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 127191387 127205010 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 127194934 127204752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 127194948 127205010 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 127207890 127285824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127207890 127285824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127207899 127285665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127280430 127280467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 127303001 127317000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TPRA1 chr3 127305097 127382175 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MCM2,PODXL2,TPRA1 chr3 127305098 127382719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCM2,PODXL2,TPRA1 chr3 127305098 127382719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCM2,PODXL2,TPRA1 chr3 127305106 127382183 Gain and loss Pancreatic cancer SNP array 17952125 MCM2,PODXL2,TPRA1 chr3 127314070 127314170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 127317001 127326500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MCM2 chr3 127326501 127338500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MCM2 chr3 127328310 127351626 Copy number gain Normal High-resolution SNP genotyping 21211785 MCM2,PODXL2 chr3 127338501 127541500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABTB1,MCM2,MGLL,PODXL2 chr3 127341829 129920493 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ABTB1,ACAD9,ALG1L2,C3orf27,C3orf37,CCDC48,CNBP,COPG1,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC653712,LOC90246,MBD4,MGLL,PLXND1,PODXL2,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA7B,TMCC1,TRH chr3 127341829 129920493 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 ABTB1,ACAD9,ALG1L2,C3orf27,C3orf37,CCDC48,CNBP,COPG1,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC653712,LOC90246,MBD4,MGLL,PLXND1,PODXL2,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA7B,TMCC1,TRH chr3 127348962 127349055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PODXL2 chr3 127353355 127356170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PODXL2 chr3 127361816 127361978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PODXL2 chr3 127361823 127361985 Gain and loss Pancreatic cancer SNP array 17952125 PODXL2 chr3 127361824 127361986 Gain and loss Pancreatic cancer SNP array 17952125 PODXL2 chr3 127361841 127361941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PODXL2 chr3 127375421 127420087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ABTB1,MGLL,PODXL2 chr3 127382223 127382308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PODXL2 chr3 127437770 127460707 Duplication Schizophrenia NimbleGen HD2 platform 21346763 MGLL chr3 127449584 127449681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGLL chr3 127461401 130775700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC653712,LOC90246,MBD4,MGLL,NEK11,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA7B,TMCC1,TRH chr3 127493047 127493131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGLL chr3 127495148 127746921 Copy number Lung cancer paired-end sequencing 18438408 KBTBD12,MGLL chr3 12750392 12775808 Gain and loss Pancreatic cancer SNP array 17952125 TMEM40 chr3 12750415 12775808 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMEM40 chr3 12750415 12775808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM40 chr3 12750415 12775808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM40 chr3 127505301 127505399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MGLL chr3 127541501 127568000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MGLL chr3 127544177 127558937 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127544191 127558929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127544191 127558929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127549061 128880998 Deletion Acute myeloid leukemia - 21251322 ACAD9,C3orf27,CCDC48,DNAJB8,DNAJB8-AS1,EEFSEC,GATA2,GP9,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC653712,LOC90246,RAB43,RAB7A,RPN1,RUVBL1,SEC61A1 chr3 127568001 127615000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 127572676 127572740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 127596472 127638088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127596472 127638088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127596480 127638096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127615001 127626000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 127626001 127682500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KBTBD12 chr3 127634739 127635284 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127639135 127677452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KBTBD12 chr3 127639135 127677452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KBTBD12 chr3 127639143 127676528 Gain and loss Pancreatic cancer SNP array 17952125 KBTBD12 chr3 127682501 127760500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KBTBD12 chr3 127682814 127719285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KBTBD12 chr3 127682814 127719285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KBTBD12 chr3 127682822 127719292 Gain and loss Pancreatic cancer SNP array 17952125 KBTBD12 chr3 127699019 127771440 Copy number loss Normal High-resolution SNP genotyping 21211785 KBTBD12,SEC61A1 chr3 127700000 131500000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TRH chr3 127700000 131500000 Amplification Ovarian clear cell carcinoma FISH 19293255 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TRH chr3 127700000 131500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TRH chr3 127700000 131500000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TRH chr3 127700000 131500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TRH chr3 127700000 131500000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TRH chr3 127700000 131500000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TRH chr3 127700000 131500000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,CPNE4,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KBTBD12,KIAA1257,LOC100507032,LOC339874,LOC653712,LOC90246,MBD4,MRPL3,NEK11,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,RUVBL1,SEC61A1,SNORA58,SNORA7B,TMCC1,TRH chr3 127700000 156300000 Loss Hepatocellular carcinoma Array CGH 16750200 A4GNT,AADAC,AADACL2,ACAD11,ACAD9,ACPL2,ACPP,AGTR1,ALG1L2,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,BFSP2,BPESC1,C3orf27,C3orf33,C3orf36,C3orf37,C3orf58,C3orf72,C3orf79,CCDC48,CCRL1,CDV3,CEP63,CEP70,CHST2,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,CNBP,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,COPG1,CP,CPA3,CPB1,CPNE4,DBR1,DHX36,DNAJB8,DNAJB8-AS1,DNAJC13,DZIP1L,EEFSEC,EFCAB12,EIF2A,EPHB1,ESYT3,FAIM,FAM194A,FAM86HP,FOXL2,GATA2,GK5,GMPS,GP9,GPR149,GPR171,GPR87,GRK7,GYG1,H1FOO,H1FX,H1FX-AS1,HLTF,HLTF-AS1,HPS3,IFT122,IGSF10,IL20RB,ISY1,ISY1-RAB43,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KIAA1257,KY,LOC100289361,LOC100507032,LOC100507389,LOC100507537,LOC201651,LOC339874,LOC401093,LOC646903,LOC653712,LOC90246,MBD4,MBNL1,MED12L,MIR4788,MIR5186,MIR548H2,MIR5704,MME,MRAS,MRPL3,MRPS22,MSL2,NCK1,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,P2RY1,P2RY12,P2RY13,P2RY14,PAQR9,PCCB,PCOLCE2,PFN2,PIK3CB,PIK3R4,PISRT1,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXND1,PPP2R3A,PRR23A,PRR23B,PRR23C,RAB43,RAB6B,RAB7A,RAP2B,RASA2,RBP1,RBP2,RHO,RNF13,RNF7,RPL32P3,RPN1,RUVBL1,RYK,SEC61A1,SELT,SERP1,SIAH2,SLC25A36,SLC33A1,SLC35G2,SLC9A9,SLC9A9-AS1,SLCO2A1,SNORA58,SNORA7B,SOX14,SPSB4,SRPRB,SSR3,STAG1,SUCNR1,TF,TFDP2,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM14E,TOPBP1,TRH,TRIM42,TRPC1,TSC22D2,U2SURP,UBA5,WWTR1,WWTR1-AS1,XRN1,ZBTB38,ZIC1,ZIC4 chr3 127725865 127744824 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr3 127725866 127744823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127725866 127744823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127725874 127744831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127741362 127741662 Loss Chordoma References 21215367 NOT_FOUND chr3 127751208 127760448 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr3 127751210 127760448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127751210 127760448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127751218 127760456 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127760501 127782500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SEC61A1 chr3 127761044 128122488 Copy number Lung cancer paired-end sequencing 18438408 EEFSEC,RUVBL1,SEC61A1 chr3 127766098 127766211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 127766106 127766219 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127766130 127766218 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 127773311 127810088 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 RUVBL1,SEC61A1 chr3 127773315 127810088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RUVBL1,SEC61A1 chr3 127773315 127810088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUVBL1,SEC61A1 chr3 127788649 127788747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEC61A1 chr3 127789481 127789573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEC61A1 chr3 127808593 127856338 Gain and loss Pancreatic cancer SNP array 17952125 RUVBL1 chr3 127809027 127856635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RUVBL1 chr3 127809027 127856635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RUVBL1 chr3 127841613 127841939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RUVBL1 chr3 127856001 127874500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EEFSEC chr3 127863614 127873472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEFSEC chr3 127863614 127873472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEFSEC chr3 127863622 127873480 Gain and loss Pancreatic cancer SNP array 17952125 EEFSEC chr3 127874501 128089000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EEFSEC chr3 127905808 128164812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EEFSEC chr3 127905808 128164812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EEFSEC chr3 127905816 128161942 Gain and loss Pancreatic cancer SNP array 17952125 EEFSEC chr3 127909238 127909921 Gain Normal 244K array 17666407 EEFSEC chr3 127921538 127921658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 127951124 127951424 Loss Chordoma References 21215367 EEFSEC chr3 127952177 127953177 Gain Chordoma References 21215367 EEFSEC chr3 127989597 127989688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 1 2800000 Deletion Lung cancer CGH 16618734 CHL1,CNTN4,CNTN4-AS2,CNTN6 chr3 1 2800000 Duplication Autism FISH 18349135 CHL1,CNTN4,CNTN4-AS2,CNTN6 chr3 1 2800000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 CHL1,CNTN4,CNTN4-AS2,CNTN6 chr3 128014953 128015053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 12801801 13915000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAND2,FBLN2,HDAC11,IQSEC1,LINC00620,NUP210,RPL32,SNORA7A,WNT7A chr3 12803889 12805167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 12803889 12805170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 128048882 128048972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 128064235 128064293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 128069111 128069179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 128076494 128076694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 128076678 128076900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 128089001 128093500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EEFSEC chr3 128093501 128158500 Copy number Normal ReadDepth: A Parallel R Package 21305028 EEFSEC chr3 128095046 130849578 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ACAD9,ALG1L2,ASTE1,ATP2C1,C3orf27,C3orf37,CCDC48,CNBP,COL6A4P2,COL6A5,COL6A6,COPG1,DNAJB8,DNAJB8-AS1,EEFSEC,EFCAB12,FAM86HP,GATA2,GP9,H1FOO,H1FX,H1FX-AS1,IFT122,ISY1,ISY1-RAB43,KIAA1257,LOC100507032,LOC653712,LOC90246,MBD4,NEK11,PIK3R4,PLXND1,RAB43,RAB7A,RHO,RPL32P3,RPN1,SNORA7B,TMCC1,TRH chr3 128109352 128110352 Loss Chordoma References 21215367 EEFSEC chr3 128115496 128150781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EEFSEC chr3 128116014 128116104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 128123141 128123241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EEFSEC chr3 12812501 12832000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 128130824 128182061 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DNAJB8 chr3 12813171 12851301 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CAND2 chr3 12813171 12851301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAND2 chr3 12813171 12851301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAND2 chr3 12813243 12851301 Gain and loss Pancreatic cancer SNP array 17952125 CAND2 chr3 128136541 128234786 Copy number Lung cancer paired-end sequencing 18438408 DNAJB8,DNAJB8-AS1,GATA2,LOC90246 chr3 128158501 128186000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAJB8,DNAJB8-AS1 chr3 128158523 128158617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 12818323 12818423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 12818451 12818638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 128186001 128225000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAJB8,DNAJB8-AS1,GATA2 chr3 128190127 128238918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJB8-AS1,GATA2,LOC90246 chr3 128190127 128238918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJB8-AS1,GATA2,LOC90246 chr3 128190200 128238926 Gain and loss Pancreatic cancer SNP array 17952125 DNAJB8-AS1,GATA2,LOC90246 chr3 128202898 128235252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GATA2,LOC90246 chr3 128203295 128203358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GATA2 chr3 128207059 128361975 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,GATA2,LOC90246,RPN1 chr3 128211502 128352305 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,GATA2,LOC90246,RPN1 chr3 128211502 128361975 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,GATA2,LOC90246,RPN1 chr3 128211502 128367283 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,GATA2,LOC90246,RPN1 chr3 128211502 128367795 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,GATA2,LOC90246,RPN1 chr3 128214680 128360097 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,LOC90246,RPN1 chr3 128214680 128361975 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,LOC90246,RPN1 chr3 128219958 128360097 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,LOC90246,RPN1 chr3 128219958 128361975 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,LOC90246,RPN1 chr3 128219958 128367795 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,LOC90246,RPN1 chr3 128225001 128228500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC90246 chr3 128228501 128241500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC90246 chr3 128239463 128239560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 128240195 128361975 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf27,RPN1 chr3 128241501 128266000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 128249818 129097921 Copy number Lung cancer paired-end sequencing 18438408 ACAD9,C3orf27,C3orf37,CCDC48,CNBP,COPG1,GP9,H1FX,H1FX-AS1,ISY1,ISY1-RAB43,KIAA1257,LOC653712,RAB43,RAB7A,RPN1 chr3 128250220 128250312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 128261234 128261334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 128266001 128300000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf27 chr3 128282720 128317812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C3orf27 chr3 128284411 128285411 Gain Chordoma References 21215367 NOT_FOUND chr3 128296916 128297016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 128300001 128336000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 128303458 128303498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 12832001 12834500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 128336001 128343000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPN1 chr3 128343001 128409500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RPN1 chr3 12834501 12920000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAND2,RPL32,SNORA7A chr3 128394664 128399715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 128394664 128399715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 128394672 128399723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 128403905 128404006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 128403916 128404001 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 128409501 128413500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 128413501 128591500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC653712,RAB7A chr3 128442501 128442607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 128442513 128442615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 128442515 128442615 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 128510416 128510563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RAB7A chr3 12851445 12858081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CAND2 chr3 12851445 12858081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAND2 chr3 12851445 12858081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAND2 chr3 12852530 12858037 Gain and loss Pancreatic cancer SNP array 17952125 CAND2 chr3 12856811 12856949 Gain and loss Pancreatic cancer SNP array 17952125 CAND2 chr3 12856811 12856949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAND2 chr3 128581501 128596002 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC653712 chr3 128591501 128597500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 128597501 128773500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAD9,CCDC48,KIAA1257 chr3 128675552 128676442 Gain Normal 244K array 17666407 NOT_FOUND chr3 128694153 128694248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1257 chr3 128711837 128711937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1257 chr3 128721253 128721769 Loss Normal 244K array 17666407 CCDC48 chr3 128723751 128723816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC48 chr3 12873963 12874018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAND2 chr3 128759843 128759906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 128773501 128793000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GP9 chr3 128774610 128792248 Gain and loss Pancreatic cancer SNP array 17952125 GP9 chr3 128774620 128792302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GP9 chr3 128774620 128792302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GP9 chr3 128776490 128776590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 128779934 128780002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GP9 chr3 128793001 128869500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ISY1,ISY1-RAB43,RAB43 chr3 128799942 128823968 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ISY1-RAB43,RAB43 chr3 128799943 128823966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ISY1-RAB43,RAB43 chr3 128799943 128823966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISY1-RAB43,RAB43 chr3 128799951 128823974 Gain and loss Pancreatic cancer SNP array 17952125 ISY1-RAB43,RAB43 chr3 128813208 128813533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ISY1-RAB43,RAB43 chr3 128830728 128874342 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ISY1,ISY1-RAB43,RAB43 chr3 128830729 128874342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ISY1,ISY1-RAB43,RAB43 chr3 128830729 128874342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISY1,ISY1-RAB43,RAB43 chr3 128830761 128874350 Gain and loss Pancreatic cancer SNP array 17952125 ISY1,ISY1-RAB43,RAB43 chr3 128849634 128849724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ISY1,ISY1-RAB43 chr3 128866237 128866343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISY1,ISY1-RAB43 chr3 128866331 128882460 Gain and loss Pancreatic cancer SNP array 17952125 ISY1,ISY1-RAB43 chr3 128867472 128882452 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ISY1,ISY1-RAB43 chr3 128867472 128882452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ISY1,ISY1-RAB43 chr3 128869501 128882500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ISY1,ISY1-RAB43 chr3 128882501 128921000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNBP chr3 128883529 129165519 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C3orf37,CNBP,COPG1,EFCAB12,H1FX,H1FX-AS1,IFT122,MBD4,RPL32P3,SNORA7B chr3 128890598 129024741 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C3orf37,CNBP,COPG1 chr3 128890601 129040709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf37,CNBP,COPG1,H1FX,H1FX-AS1 chr3 128890601 129040709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf37,CNBP,COPG1,H1FX,H1FX-AS1 chr3 128893222 128894222 Loss Chordoma References 21215367 CNBP chr3 128893658 129024726 Gain and loss Pancreatic cancer SNP array 17952125 C3orf37,CNBP,COPG1 chr3 128921001 129272500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf37,COPG1,EFCAB12,H1FOO,H1FX,H1FX-AS1,IFT122,MBD4,RHO,RPL32P3,SNORA7B chr3 128933317 128966031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 128959836 130049323 LOH Normal High-resolution SNP genotyping 21211785 ALG1L2,C3orf37,COL6A4P2,COPG1,EFCAB12,FAM86HP,H1FOO,H1FX,H1FX-AS1,IFT122,LOC100507032,MBD4,PLXND1,RHO,RPL32P3,SNORA7B,TMCC1,TRH chr3 129012381 129012797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C3orf37 chr3 12902382 12902437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 129060479 129087151 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 12908226 14927766 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C3orf20,CCDC174,CHCHD4,FBLN2,FGD5,GRIP2,HDAC11,IQSEC1,LINC00620,LOC100132526,LSM3,NUP210,SLC6A6,TMEM43,TPRXL,WNT7A,XPC chr3 129113006 129155986 Copy number Lung cancer paired-end sequencing 18438408 EFCAB12,MBD4,RPL32P3,SNORA7B chr3 129116765 129189204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFCAB12,IFT122,MBD4,RPL32P3 chr3 129116765 129189204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFCAB12,IFT122,MBD4,RPL32P3 chr3 129117016 129189200 Gain and loss Pancreatic cancer SNP array 17952125 EFCAB12,IFT122,MBD4,RPL32P3 chr3 129122040 129122145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB12 chr3 129142720 129142800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFCAB12 chr3 12914374 12983960 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IQSEC1 chr3 12914374 12983960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQSEC1 chr3 12914374 12983960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQSEC1 chr3 12914374 13003536 Gain and loss Pancreatic cancer SNP array 17952125 IQSEC1 chr3 129159733 129159789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT122 chr3 129165141 129165257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT122 chr3 129165149 129165238 Gain and loss Pancreatic cancer SNP array 17952125 IFT122 chr3 129165150 129165265 Gain and loss Pancreatic cancer SNP array 17952125 IFT122 chr3 129169986 129844471 Copy number Lung cancer paired-end sequencing 18438408 ALG1L2,FAM86HP,H1FOO,IFT122,LOC100507032,PLXND1,RHO,TMCC1,TRH chr3 129174098 129779377 LOH Normal High-resolution SNP genotyping 21211785 H1FOO,IFT122,LOC100507032,PLXND1,RHO,TMCC1,TRH chr3 12919435 12919522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 129200000 133700000 Loss Hailey-hailey disease references 17597066 ACAD11,ACPP,ALG1L2,ASTE1,ATP2C1,BFSP2,C3orf36,CCRL1,CDV3,COL6A4P2,COL6A5,COL6A6,CPNE4,DNAJC13,FAM86HP,H1FOO,IFT122,LOC100507032,LOC339874,MIR5704,MRPL3,NEK11,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,PIK3R4,PLXND1,RAB6B,RHO,SLCO2A1,SNORA58,SRPRB,TF,TMCC1,TMEM108,TOPBP1,TRH,UBA5 chr3 129200000 138700000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 A4GNT,ACAD11,ACPP,ALG1L2,AMOTL2,ANAPC13,ARMC8,ASTE1,ATP2C1,BFSP2,C3orf36,C3orf72,CCRL1,CDV3,CEP63,CEP70,CLDN18,COL6A4P2,COL6A5,COL6A6,CPNE4,DBR1,DNAJC13,DZIP1L,EPHB1,ESYT3,FAIM,FAM86HP,FOXL2,H1FOO,IFT122,IL20RB,KY,LOC100507032,LOC339874,MIR4788,MIR5704,MRAS,MRPL3,MSL2,NCK1,NEK11,NME9,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,PCCB,PIK3CB,PIK3R4,PLXND1,PPP2R3A,RAB6B,RHO,RYK,SLC35G2,SLCO2A1,SNORA58,SOX14,SRPRB,STAG1,TF,TMCC1,TMEM108,TOPBP1,TRH,UBA5 chr3 129200000 142800000 Gain Lung cancer array CGH 16740712 A4GNT,ACAD11,ACPL2,ACPP,ALG1L2,AMOTL2,ANAPC13,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,BFSP2,BPESC1,C3orf36,C3orf72,CCRL1,CDV3,CEP63,CEP70,CLDN18,CLSTN2,COL6A4P2,COL6A5,COL6A6,COPB2,CPNE4,DBR1,DNAJC13,DZIP1L,EPHB1,ESYT3,FAIM,FAM86HP,FOXL2,GK5,GRK7,H1FOO,IFT122,IL20RB,KY,LOC100289361,LOC100507032,LOC100507389,LOC339874,MIR4788,MIR5704,MRAS,MRPL3,MRPS22,MSL2,NCK1,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,PAQR9,PCCB,PCOLCE2,PIK3CB,PIK3R4,PISRT1,PLS1,PLXND1,PPP2R3A,PRR23A,PRR23B,PRR23C,RAB6B,RASA2,RBP1,RBP2,RHO,RNF7,RYK,SLC25A36,SLC35G2,SLCO2A1,SNORA58,SOX14,SPSB4,SRPRB,STAG1,TF,TFDP2,TMCC1,TMEM108,TOPBP1,TRH,TRIM42,TRPC1,U2SURP,UBA5,XRN1,ZBTB38 chr3 129200000 160700000 Amplification Breast cancer Array CGH 16461572 A4GNT,AADAC,AADACL2,ACAD11,ACPL2,ACPP,AGTR1,ALG1L2,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,BFSP2,BPESC1,C3orf33,C3orf36,C3orf55,C3orf58,C3orf72,C3orf79,C3orf80,CCNL1,CCRL1,CDV3,CEP63,CEP70,CHST2,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,CP,CPA3,CPB1,CPNE4,DBR1,DHX36,DNAJC13,DZIP1L,EIF2A,EPHB1,ESYT3,FAIM,FAM194A,FAM86HP,FOXL2,GFM1,GK5,GMPS,GPR149,GPR171,GPR87,GRK7,GYG1,H1FOO,HLTF,HLTF-AS1,HPS3,IFT122,IFT80,IGSF10,IL12A,IL20RB,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,KY,LEKR1,LOC100289361,LOC100498859,LOC100507032,LOC100507389,LOC100507537,LOC201651,LOC339874,LOC339894,LOC401093,LOC646903,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR15B,MIR16-2,MIR3919,MIR4788,MIR5186,MIR548H2,MIR5704,MLF1,MME,MRAS,MRPL3,MRPS22,MSL2,NCK1,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PCCB,PCOLCE2,PFN2,PIK3CB,PIK3R4,PISRT1,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXND1,PPM1L,PPP2R3A,PRR23A,PRR23B,PRR23C,PTX3,RAB6B,RAP2B,RARRES1,RASA2,RBP1,RBP2,RHO,RNF13,RNF7,RSRC1,RYK,SCARNA7,SCHIP1,SELT,SERP1,SHOX2,SIAH2,SLC25A36,SLC33A1,SLC35G2,SLC9A9,SLC9A9-AS1,SLCO2A1,SMC4,SNORA58,SOX14,SPSB4,SRPRB,SSR3,STAG1,SUCNR1,TF,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM14E,TOPBP1,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,U2SURP,UBA5,VEPH1,WWTR1,WWTR1-AS1,XRN1,ZBTB38,ZIC1,ZIC4 chr3 129200000 160700000 Deletion Hepatocellular carcinoma Array CGH 16750200 A4GNT,AADAC,AADACL2,ACAD11,ACPL2,ACPP,AGTR1,ALG1L2,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATP1B3,ATP2C1,ATR,BFSP2,BPESC1,C3orf33,C3orf36,C3orf55,C3orf58,C3orf72,C3orf79,C3orf80,CCNL1,CCRL1,CDV3,CEP63,CEP70,CHST2,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,CP,CPA3,CPB1,CPNE4,DBR1,DHX36,DNAJC13,DZIP1L,EIF2A,EPHB1,ESYT3,FAIM,FAM194A,FAM86HP,FOXL2,GFM1,GK5,GMPS,GPR149,GPR171,GPR87,GRK7,GYG1,H1FOO,HLTF,HLTF-AS1,HPS3,IFT122,IFT80,IGSF10,IL12A,IL20RB,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,KY,LEKR1,LOC100289361,LOC100498859,LOC100507032,LOC100507389,LOC100507537,LOC201651,LOC339874,LOC339894,LOC401093,LOC646903,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR15B,MIR16-2,MIR3919,MIR4788,MIR5186,MIR548H2,MIR5704,MLF1,MME,MRAS,MRPL3,MRPS22,MSL2,NCK1,NEK11,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PCCB,PCOLCE2,PFN2,PIK3CB,PIK3R4,PISRT1,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXND1,PPM1L,PPP2R3A,PRR23A,PRR23B,PRR23C,PTX3,RAB6B,RAP2B,RARRES1,RASA2,RBP1,RBP2,RHO,RNF13,RNF7,RSRC1,RYK,SCARNA7,SCHIP1,SELT,SERP1,SHOX2,SIAH2,SLC25A36,SLC33A1,SLC35G2,SLC9A9,SLC9A9-AS1,SLCO2A1,SMC4,SNORA58,SOX14,SPSB4,SRPRB,SSR3,STAG1,SUCNR1,TF,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM14E,TOPBP1,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,U2SURP,UBA5,VEPH1,WWTR1,WWTR1-AS1,XRN1,ZBTB38,ZIC1,ZIC4 chr3 129200000 198022430 Amplification Esophageal squamous carcinoma CGH 18350619 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACAD11,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AGTR1,AHSG,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATR,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,BFSP2,BPESC1,C3orf33,C3orf36,C3orf43,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CCRL1,CDV3,CEP19,CEP63,CEP70,CHRD,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COL6A4P2,COL6A5,COL6A6,COMMD2,COPB2,CP,CPA3,CPB1,CPN2,CPNE4,CRYGS,DBR1,DCUN1D1,DGKG,DHX36,DLG1,DLG1-AS1,DNAJB11,DNAJC13,DNAJC19,DVL3,DZIP1L,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM194A,FAM43A,FAM86HP,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FXR1,FYTTD1,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLIM4,GP5,GPR149,GPR160,GPR171,GPR87,GRK7,GYG1,H1FOO,HES1,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT122,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IL20RB,IQCG,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100289361,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339874,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4788,MIR4789,MIR4797,MIR5186,MIR548H2,MIR551B,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB5,NEK11,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,OPA1,OPA1-AS1,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PCCB,PCOLCE2,PCYT1A,PDCD10,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLCH1,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXND1,POLR2H,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTX3,PYDC2,RAB6B,RAP2B,RARRES1,RASA2,RBP1,RBP2,RFC4,RHO,RNF13,RNF168,RNF7,RPL22L1,RPL35A,RPL39L,RSRC1,RTP1,RTP2,RTP4,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SELT,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC25A36,SLC2A2,SLC33A1,SLC35G2,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA81,SNORD2,SNORD66,SOX14,SOX2,SOX2-OT,SPATA16,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST6GAL1,STAG1,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFRC,THPO,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TOPBP1,TP63,TPRG1,TPRG1-AS2,TRA2B,TRH,TRIM42,TRIM59,TRPC1,TSC22D2,TTC14,U2SURP,UBA5,UBXN7,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBTB38,ZDHHC19,ZIC1,ZIC4,ZMAT3,ZNF639 chr3 12920001 12962000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQSEC1 chr3 129206188 129206488 Gain Chordoma References 21215367 IFT122 chr3 129207203 129208203 Loss Chordoma References 21215367 IFT122 chr3 1292469 1292546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN6 chr3 129250293 129283212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 H1FOO,PLXND1,RHO chr3 129253902 129273215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 H1FOO,RHO chr3 129253902 129273215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 H1FOO,RHO chr3 129253910 129273223 Gain and loss Pancreatic cancer SNP array 17952125 H1FOO,RHO chr3 129272501 129281500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLXND1 chr3 129276606 129276782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXND1 chr3 129276614 129276790 Gain and loss Pancreatic cancer SNP array 17952125 PLXND1 chr3 129276617 129276790 Gain and loss Pancreatic cancer SNP array 17952125 PLXND1 chr3 129282490 129325361 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 PLXND1 chr3 129282493 129325332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLXND1 chr3 129282493 129325332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXND1 chr3 129282501 129325358 Gain and loss Pancreatic cancer SNP array 17952125 PLXND1 chr3 129319596 129342408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLXND1 chr3 129323649 129323749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLXND1 chr3 129324482 129343286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLXND1 chr3 129324999 129346284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLXND1 chr3 129325652 129394381 Loss Normal 244K array 17666407 TMCC1 chr3 129333819 129342437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 129335027 129364827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 129343408 129343510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 129343439 129343518 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 129355003 129610178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMCC1 chr3 129355003 129610178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCC1 chr3 129355049 129610183 Gain and loss Pancreatic cancer SNP array 17952125 TMCC1 chr3 12942462 13022602 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 IQSEC1 chr3 12945170 13265554 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IQSEC1 chr3 129470501 129484500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMCC1 chr3 12950276 13031569 Duplication Schizophrenia NimbleGen HD2 platform 21346763 IQSEC1 chr3 129502914 129613031 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100507032,TMCC1 chr3 129512684 129616659 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100507032,TMCC1 chr3 129519001 129583000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TMCC1 chr3 129540391 129803878 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALG1L2,LOC100507032,TMCC1,TRH chr3 129540391 129920515 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALG1L2,FAM86HP,LOC100507032,TMCC1,TRH chr3 129563698 129563791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMCC1 chr3 129573475 129607112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMCC1 chr3 129583001 129632000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100507032,TMCC1 chr3 129588973 129618347 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100507032,TMCC1 chr3 12962001 13008000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQSEC1 chr3 129632001 129687000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 129634296 129920515 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALG1L2,FAM86HP,TRH chr3 129644293 129644393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 129646964 129647007 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 NOT_FOUND chr3 129655752 129655849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 129659901 129690435 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 129663972 129668781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 129663972 129668781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 129663980 129668789 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 129680954 129694720 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TRH chr3 129680962 129694718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRH chr3 129680962 129694718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRH chr3 129680970 129694726 Gain and loss Pancreatic cancer SNP array 17952125 TRH chr3 129687001 129699500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRH chr3 129699501 129818000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALG1L2,FAM86HP chr3 129703616 129703691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 129716123 129920515 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALG1L2,FAM86HP chr3 129773533 129777619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 129773533 129777619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 129774821 129775270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 129812802 129821511 Gain Normal 244K array 17666407 ALG1L2,FAM86HP chr3 129818001 129820000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM86HP chr3 129818330 129821503 Gain and loss Pancreatic cancer SNP array 17952125 FAM86HP chr3 129821503 129852409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM86HP chr3 129821503 129852409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM86HP chr3 129821511 129852378 Gain and loss Pancreatic cancer SNP array 17952125 FAM86HP chr3 129841788 129866404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 129843514 129895060 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129843514 129895060 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129843514 129897695 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129843514 129897695 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129843514 129901919 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129843514 129901919 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129853065 129885019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 129861713 129886685 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 129861994 129862931 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 129861994 129886694 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 129862076 129896446 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr3 129865198 129897695 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129865198 129897695 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129865198 129901919 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129865198 129901919 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 129866136 129895021 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 129866136 129896851 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 129867195 129887927 Gain Normal 244K array 17666407 NOT_FOUND chr3 129867201 129895009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 129875215 129875554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 129875223 129875562 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 129878180 129895021 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 129890191 129894021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 12989960 13012361 Gain Normal 244K array 17666407 IQSEC1 chr3 129900482 129901482 Loss Chordoma References 21215367 NOT_FOUND chr3 129912511 130566941 Copy number Lung cancer paired-end sequencing 18438408 COL6A4P2,COL6A5,COL6A6,PIK3R4 chr3 129916104 129916238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 129916112 129916246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 129921622 130516937 LOH Normal High-resolution SNP genotyping 21211785 COL6A4P2,COL6A5,COL6A6,PIK3R4 chr3 129927669 130016329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL6A4P2 chr3 129927669 130016329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A4P2 chr3 129927677 130016339 Gain and loss Pancreatic cancer SNP array 17952125 COL6A4P2 chr3 129929497 129929797 Gain Chordoma References 21215367 NOT_FOUND chr3 129938178 129938434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A4P2 chr3 129938328 129938430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A4P2 chr3 129938417 129938645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A4P2 chr3 129938418 129938474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A4P2 chr3 129952656 129952756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A4P2 chr3 129965438 129965478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A4P2 chr3 129965867 129966738 Gain and loss Pancreatic cancer SNP array 17952125 COL6A4P2 chr3 129965999 129966550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A4P2 chr3 129975623 129975718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 COL6A4P2 chr3 129982385 129982485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A4P2 chr3 129986681 129986980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A4P2 chr3 129986689 129986988 Gain and loss Pancreatic cancer SNP array 17952125 COL6A4P2 chr3 129993201 130209381 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 COL6A5 chr3 129993201 130584937 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP2C1,COL6A5,COL6A6,PIK3R4 chr3 130015430 130016098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130015741 130015944 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1 30036130 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-410K arrays 21546498 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CMC1,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,DAZL,DPH3,EAF1,EDEM1,EFHB,EGOT,EMC3,EOMES,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRN1,LSM3,METTL6,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NEK10,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OGG1,OXNAD1,OXSM,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL15,RPL32,RPUSD3,SATB1,SEC13,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TOP2B,TPRXL,TRNT1,TSEN2,TTLL3,UBE2E1,UBE2E2,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZCWPW2,ZFYVE20,ZNF385D chr3 130046001 130056000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 130056001 130108500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL6A5 chr3 13008001 13010500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQSEC1 chr3 130081144 130114646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL6A5 chr3 130081144 130114646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A5 chr3 130081152 130114654 Gain and loss Pancreatic cancer SNP array 17952125 COL6A5 chr3 13010501 13029500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQSEC1 chr3 130108501 130112000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL6A5 chr3 130111399 130147499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A5 chr3 130111415 130147516 Gain and loss Pancreatic cancer SNP array 17952125 COL6A5 chr3 130112001 130287000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL6A5,COL6A6 chr3 130144075 130159398 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COL6A5 chr3 130149540 130194172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COL6A5 chr3 130151732 131173656 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-418K arrays 21546498 ASTE1,ATP2C1,COL6A5,COL6A6,LOC339874,NEK11,NUDT16,NUDT16P1,PIK3R4 chr3 130168130 130195656 Gain and loss Pancreatic cancer SNP array 17952125 COL6A5 chr3 130172476 130195676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A5 chr3 130178196 130178296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A5 chr3 130203203 130205622 Gain and loss Pancreatic cancer SNP array 17952125 COL6A5 chr3 130209337 130210877 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 13021514 13049045 Loss Normal 244K array 17666407 IQSEC1 chr3 130231990 130242273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130231990 130242273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130231996 130242281 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 130245385 130246385 Loss Chordoma References 21215367 NOT_FOUND chr3 130253524 130567162 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 COL6A6,PIK3R4 chr3 130262308 130263949 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 130262335 130263935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130262335 130263935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130266435 130266490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 130287001 130292000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL6A6 chr3 13028835 13096208 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IQSEC1 chr3 130289102 130323683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL6A6 chr3 130289102 130323683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A6 chr3 130289116 130362727 Gain and loss Pancreatic cancer SNP array 17952125 COL6A6 chr3 130292001 130329000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL6A6 chr3 130292954 199251329 Duplication Myelodysplastic syndrome - 21251322 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACAD11,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AGTR1,AHSG,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ASTE1,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATR,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,BFSP2,BPESC1,C3orf33,C3orf36,C3orf43,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CCRL1,CDV3,CEP19,CEP63,CEP70,CHRD,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COL6A6,COMMD2,COPB2,CP,CPA3,CPB1,CPN2,CPNE4,CRYGS,DBR1,DCUN1D1,DGKG,DHX36,DLG1,DLG1-AS1,DNAJB11,DNAJC13,DNAJC19,DVL3,DZIP1L,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM194A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FXR1,FYTTD1,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLIM4,GP5,GPR149,GPR160,GPR171,GPR87,GRK7,GYG1,HES1,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IL20RB,IQCG,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100289361,LOC100498859,LOC100505687,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339874,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4788,MIR4789,MIR4797,MIR5186,MIR548H2,MIR551B,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB5,NEK11,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,OPA1,OPA1-AS1,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PCCB,PCOLCE2,PCYT1A,PDCD10,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLCH1,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,POLR2H,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTX3,PYDC2,RAB6B,RAP2B,RARRES1,RASA2,RBP1,RBP2,RFC4,RNF13,RNF168,RNF7,RPL22L1,RPL35A,RPL39L,RSRC1,RTP1,RTP2,RTP4,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SELT,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC25A36,SLC2A2,SLC33A1,SLC35G2,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA81,SNORD2,SNORD66,SOX14,SOX2,SOX2-OT,SPATA16,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST6GAL1,STAG1,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFRC,THPO,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TOPBP1,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM42,TRIM59,TRPC1,TSC22D2,TTC14,U2SURP,UBA5,UBXN7,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBTB38,ZDHHC19,ZIC1,ZIC4,ZMAT3,ZNF639 chr3 13029501 13037000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQSEC1 chr3 130328948 130362826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL6A6 chr3 130328948 130362826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A6 chr3 130329001 130330500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL6A6 chr3 13034500 13034554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQSEC1 chr3 13037001 13438000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQSEC1,NUP210 chr3 130371020 130385427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL6A6 chr3 130371020 130385427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A6 chr3 130371130 130385397 Gain and loss Pancreatic cancer SNP array 17952125 COL6A6 chr3 130384501 130386000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL6A6 chr3 130393088 130393146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A6 chr3 13041054 13041154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQSEC1 chr3 130422232 130422332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3R4 chr3 130451143 130479304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PIK3R4 chr3 130451143 130479304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PIK3R4 chr3 130451151 130479312 Gain and loss Pancreatic cancer SNP array 17952125 PIK3R4 chr3 130463578 130463678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3R4 chr3 130480374 130506823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130480374 130506823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130480515 130506802 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 130512014 130512114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 130514501 130568500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 130516794 130517435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130516802 130517443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 130519639 130527758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130519639 130527758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 130522082 130569195 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 130522655 130569804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATP2C1 chr3 130523345 130568606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 130530822 130531435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 130538397 130538497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 130555286 131158024 LOH Normal High-resolution SNP genotyping 21211785 ASTE1,ATP2C1,LOC339874,NEK11,NUDT16,NUDT16P1 chr3 130555286 131263538 LOH Normal High-resolution SNP genotyping 21211785 ASTE1,ATP2C1,CPNE4,LOC339874,MRPL3,NEK11,NUDT16,NUDT16P1,SNORA58 chr3 130562706 131724176 LOH Normal High-resolution SNP genotyping 21211785 ASTE1,ATP2C1,CPNE4,LOC339874,MIR5704,MRPL3,NEK11,NUDT16,NUDT16P1,SNORA58 chr3 130567947 130568047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 130584366 130600972 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ATP2C1 chr3 130584458 130601009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130584458 130601009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130584466 130600946 Gain and loss Pancreatic cancer SNP array 17952125 ATP2C1 chr3 130584686 130722358 Copy number Lung cancer paired-end sequencing 18438408 ATP2C1 chr3 130598743 130598881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130598751 130598889 Gain and loss Pancreatic cancer SNP array 17952125 ATP2C1 chr3 130602853 130630184 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 ATP2C1 chr3 130602855 130630184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130602855 130630184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130602863 130630192 Gain and loss Pancreatic cancer SNP array 17952125 ATP2C1 chr3 130627517 132017968 Copy number gain Normal High-resolution SNP genotyping 21211785 ASTE1,ATP2C1,CPNE4,LOC339874,MIR5704,MRPL3,NEK11,NUDT16,NUDT16P1,SNORA58 chr3 130632482 130641542 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ATP2C1 chr3 130632483 130641542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130632483 130641542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130632491 130641550 Gain and loss Pancreatic cancer SNP array 17952125 ATP2C1 chr3 130641658 130721880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130641658 130721880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP2C1 chr3 130641666 130721888 Gain and loss Pancreatic cancer SNP array 17952125 ATP2C1 chr3 130667158 130667467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP2C1 chr3 130680026 130681026 Gain Chordoma References 21215367 ATP2C1 chr3 130681633 130681733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP2C1 chr3 130689597 130733906 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASTE1,ATP2C1 chr3 130714001 130717500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2C1 chr3 130717501 130720500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATP2C1 chr3 130720501 130836000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ASTE1,ATP2C1,NEK11 chr3 130730172 130736867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASTE1,ATP2C1 chr3 130730172 130736867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASTE1,ATP2C1 chr3 130730180 130736885 Gain and loss Pancreatic cancer SNP array 17952125 ASTE1,ATP2C1 chr3 130737128 130851631 Copy number Lung cancer paired-end sequencing 18438408 ASTE1,NEK11 chr3 130744747 130752894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASTE1,NEK11 chr3 130744747 130752894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASTE1,NEK11 chr3 130744755 130752902 Gain and loss Pancreatic cancer SNP array 17952125 ASTE1,NEK11 chr3 130756708 130808351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEK11 chr3 130756708 130808351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK11 chr3 130756716 130808359 Gain and loss Pancreatic cancer SNP array 17952125 NEK11 chr3 130774970 130775070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK11 chr3 130775701 134545400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAD11,ACPP,AMOTL2,ANAPC13,BFSP2,C3orf36,CCRL1,CDV3,CEP63,CPNE4,DNAJC13,EPHB1,KY,LOC339874,MIR4788,MIR5704,MRPL3,NEK11,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NUDT16,NUDT16P1,RAB6B,RYK,SLCO2A1,SNORA58,SRPRB,TF,TMEM108,TOPBP1,UBA5 chr3 130792882 130793097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK11 chr3 130792882 130793178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK11 chr3 130792890 130793105 Gain and loss Pancreatic cancer SNP array 17952125 NEK11 chr3 1 30800000 Deletion Neuroblastoma Affymetrix 10K SNP array 17327916 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CMC1,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,DAZL,DPH3,EAF1,EDEM1,EFHB,EGOT,EMC3,EOMES,FANCD2,FBLN2,FGD5,FGD5-AS1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRN1,LSM3,METTL6,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NEK10,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OGG1,OXNAD1,OXSM,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL15,RPL32,RPUSD3,SATB1,SEC13,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TOP2B,TPRXL,TRNT1,TSEN2,TTLL3,UBE2E1,UBE2E2,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZCWPW2,ZFYVE20,ZNF385D chr3 1 30800000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CMC1,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,DAZL,DPH3,EAF1,EDEM1,EFHB,EGOT,EMC3,EOMES,FANCD2,FBLN2,FGD5,FGD5-AS1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRN1,LSM3,METTL6,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NEK10,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OGG1,OXNAD1,OXSM,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL15,RPL32,RPUSD3,SATB1,SEC13,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TOP2B,TPRXL,TRNT1,TSEN2,TTLL3,UBE2E1,UBE2E2,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZCWPW2,ZFYVE20,ZNF385D chr3 130804461 130804561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK11 chr3 130849327 131081999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339874,NEK11,NUDT16P1 chr3 130850242 131082007 Gain and loss Pancreatic cancer SNP array 17952125 LOC339874,NEK11,NUDT16P1 chr3 13086215 13086304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQSEC1 chr3 130865928 131086271 Copy number Lung cancer paired-end sequencing 18438408 LOC339874,NEK11,NUDT16P1 chr3 130893192 130893267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK11 chr3 131019935 131020184 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEK11 chr3 131020465 131020566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK11 chr3 131020473 131020571 Gain and loss Pancreatic cancer SNP array 17952125 NEK11 chr3 131020473 131020572 Gain and loss Pancreatic cancer SNP array 17952125 NEK11 chr3 131021310 131021409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK11 chr3 131021318 131021417 Gain and loss Pancreatic cancer SNP array 17952125 NEK11 chr3 131029503 131030503 Loss Cancer Human 24 color M-FISH 21215367 NEK11 chr3 131029503 131030503 Loss Chordoma References 21215367 NEK11 chr3 131048994 131049421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC339874,NEK11 chr3 13107094 13107180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQSEC1 chr3 131094001 131245000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC339874,MRPL3,NUDT16,SNORA58 chr3 131099654 131218467 Gain aortic dissecting aneurysms Array-CGH 22263138 LOC339874,MRPL3,NUDT16,SNORA58 chr3 131102668 131217188 Copy number Lung cancer paired-end sequencing 18438408 MRPL3,NUDT16,SNORA58 chr3 131108119 131973636 LOH Normal High-resolution SNP genotyping 21211785 CPNE4,MIR5704,MRPL3,SNORA58 chr3 131113198 131125080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 131139999 131140548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 131142165 131422680 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CPNE4,MRPL3,SNORA58 chr3 13114468 14266088 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CHCHD4,FBLN2,HDAC11,IQSEC1,LINC00620,LOC100132526,LSM3,NUP210,TMEM43,TPRXL,WNT7A,XPC chr3 131151443 131642624 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPNE4,MRPL3,SNORA58 chr3 13116434 13117583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 13116443 13117591 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 131176253 131179470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 131176253 131179470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 131176261 131179478 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 131198515 131288730 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4,MRPL3 chr3 131198856 131343303 Duplication Normal Affymetrix 6.0 microarrays 20967226 CPNE4,MRPL3 chr3 131209374 131209474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPL3 chr3 131211855 131416023 Substitutions and indels small cell lung cancer array-CGH 20016488 CPNE4,MRPL3 chr3 131213377 131397648 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4,MRPL3 chr3 131214431 131339424 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CPNE4,MRPL3 chr3 131214443 131288926 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CPNE4,MRPL3 chr3 131220073 131343303 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CPNE4,MRPL3 chr3 131223302 131224150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 131223310 131224158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 131224044 131291489 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131224044 131359673 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131224301 131294099 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE4 chr3 131229317 131339424 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131232363 131312185 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE4 chr3 131232884 131354213 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CPNE4 chr3 131232896 131293903 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CPNE4 chr3 131235485 131296164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE4 chr3 131236613 131343303 Duplication Normal Affymetrix 6.0 microarrays 20967226 CPNE4 chr3 131236625 131277782 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CPNE4 chr3 131236625 131288926 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CPNE4 chr3 131240523 131245549 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 131243312 131275145 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131243312 131289602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131243312 131291489 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131243814 131288730 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131243814 131339424 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131243814 131368353 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131244601 131291300 Deletion Glioma mate-paired sequence 20126413 CPNE4 chr3 131245001 131314500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CPNE4 chr3 131245537 131289602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131245537 131290979 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 CPNE4 chr3 131245538 131289601 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CPNE4 chr3 131245538 131289601 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CPNE4 chr3 131245549 131246387 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 131245607 131289737 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CPNE4 chr3 131246071 131289434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPNE4 chr3 131246376 131277482 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CPNE4 chr3 131246376 131289602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131246387 131246388 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 131246388 131269443 Loss Normal Birdsuite, version 1.5.2 22087296 CPNE4 chr3 131246388 131288926 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CPNE4 chr3 131246388 131288926 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CPNE4 chr3 131246388 131302328 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CPNE4 chr3 131246442 131414704 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CPNE4 chr3 131255986 131291214 Copy number Lung cancer paired-end sequencing 18438408 CPNE4 chr3 131258536 131289602 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131263554 131291489 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131268618 131291489 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131269417 131289602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131269443 131269711 Loss Normal Birdsuite, version 1.5.2 22087296 CPNE4 chr3 131269711 131269889 Loss Normal Birdsuite, version 1.5.2 22087296 CPNE4 chr3 131269889 131288926 Loss Normal Birdsuite, version 1.5.2 22087296 CPNE4 chr3 131271881 131273585 Deletion Medulloblastoma Illumina SNP arrays 21163964 CPNE4 chr3 131288926 131289688 Loss Normal Birdsuite, version 1.5.2 22087296 CPNE4 chr3 131289688 131294045 Loss Normal Birdsuite, version 1.5.2 22087296 CPNE4 chr3 131290297 131290397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131299317 131313005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE4 chr3 131299325 131313013 Gain and loss Pancreatic cancer SNP array 17952125 CPNE4 chr3 131318513 131318613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131326226 131414301 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CPNE4 chr3 131328994 132415760 LOH Normal High-resolution SNP genotyping 21211785 ACAD11,ACPP,CCRL1,CPNE4,DNAJC13,MIR5704,NPHP3,NPHP3-ACAD11,UBA5 chr3 131338764 131338864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131339076 133284148 Copy number Lung cancer paired-end sequencing 18438408 ACAD11,ACPP,BFSP2,CCRL1,CPNE4,DNAJC13,MIR5704,NPHP3,NPHP3-ACAD11,NPHP3-AS1,TMEM108,UBA5 chr3 131371861 131371938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131385056 131385156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE4 chr3 131395233 131395820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPNE4 chr3 131395374 131395689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPNE4 chr3 131399835 131996184 LOH Normal High-resolution SNP genotyping 21211785 CPNE4,MIR5704 chr3 131420967 132404571 Substitutions and indels small cell lung cancer array-CGH 20016488 ACAD11,ACPP,CCRL1,CPNE4,DNAJC13,MIR5704,NPHP3,NPHP3-ACAD11,UBA5 chr3 131427449 131427544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131432956 132270899 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACPP,CPNE4,DNAJC13,MIR5704 chr3 131460701 131460851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131465689 131468741 Gain and loss Pancreatic cancer SNP array 17952125 CPNE4 chr3 131486873 131509967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE4 chr3 131488125 131488225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131500000 135700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAD11,ACPP,AMOTL2,ANAPC13,BFSP2,C3orf36,CCRL1,CDV3,CEP63,CPNE4,DNAJC13,EPHB1,KY,MIR4788,MIR5704,NPHP3,NPHP3-ACAD11,NPHP3-AS1,PPP2R3A,RAB6B,RYK,SLCO2A1,SRPRB,TF,TMEM108,TOPBP1,UBA5 chr3 131500000 135700000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ACAD11,ACPP,AMOTL2,ANAPC13,BFSP2,C3orf36,CCRL1,CDV3,CEP63,CPNE4,DNAJC13,EPHB1,KY,MIR4788,MIR5704,NPHP3,NPHP3-ACAD11,NPHP3-AS1,PPP2R3A,RAB6B,RYK,SLCO2A1,SRPRB,TF,TMEM108,TOPBP1,UBA5 chr3 131500000 156300000 Microdeletion Blepharophimosis-ptosis-epicanthus inversus syndrome FISH 22067867 A4GNT,AADAC,AADACL2,ACAD11,ACPL2,ACPP,AGTR1,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARMC8,ATP1B3,ATR,BFSP2,BPESC1,C3orf33,C3orf36,C3orf58,C3orf72,C3orf79,CCRL1,CDV3,CEP63,CEP70,CHST2,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COMMD2,COPB2,CP,CPA3,CPB1,CPNE4,DBR1,DHX36,DNAJC13,DZIP1L,EIF2A,EPHB1,ESYT3,FAIM,FAM194A,FOXL2,GK5,GMPS,GPR149,GPR171,GPR87,GRK7,GYG1,HLTF,HLTF-AS1,HPS3,IGSF10,IL20RB,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KY,LOC100289361,LOC100507389,LOC100507537,LOC201651,LOC401093,LOC646903,MBNL1,MED12L,MIR4788,MIR5186,MIR548H2,MIR5704,MME,MRAS,MRPS22,MSL2,NCK1,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,P2RY1,P2RY12,P2RY13,P2RY14,PAQR9,PCCB,PCOLCE2,PFN2,PIK3CB,PISRT1,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PPP2R3A,PRR23A,PRR23B,PRR23C,RAB6B,RAP2B,RASA2,RBP1,RBP2,RNF13,RNF7,RYK,SELT,SERP1,SIAH2,SLC25A36,SLC33A1,SLC35G2,SLC9A9,SLC9A9-AS1,SLCO2A1,SOX14,SPSB4,SRPRB,SSR3,STAG1,SUCNR1,TF,TFDP2,TM4SF1,TM4SF18,TM4SF4,TMEM108,TMEM14E,TOPBP1,TRIM42,TRPC1,TSC22D2,U2SURP,UBA5,WWTR1,WWTR1-AS1,XRN1,ZBTB38,ZIC1,ZIC4 chr3 13150606 13182200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 131531123 131531215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131547049 131686378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPNE4 chr3 131547049 131686378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE4 chr3 131570760 131570877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE4 chr3 131577783 131597008 Gain and loss Pancreatic cancer SNP array 17952125 CPNE4 chr3 131610083 131610436 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CPNE4 chr3 131614649 131615580 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CPNE4 chr3 131614715 131615594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CPNE4 chr3 131622935 131622984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 131642166 131686386 Gain and loss Pancreatic cancer SNP array 17952125 CPNE4 chr3 13164448 13164548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 131689490 131689590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPNE4 chr3 1316985 1317060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN6 chr3 131731652 132400704 LOH Normal High-resolution SNP genotyping 21211785 ACAD11,ACPP,CCRL1,CPNE4,DNAJC13,NPHP3,NPHP3-ACAD11,UBA5 chr3 131746327 131779907 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE4 chr3 131747544 131779797 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPNE4 chr3 131759911 133992929 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACAD11,ACPP,BFSP2,C3orf36,CCRL1,CDV3,DNAJC13,NPHP3,NPHP3-ACAD11,NPHP3-AS1,RAB6B,RYK,SLCO2A1,SRPRB,TF,TMEM108,TOPBP1,UBA5 chr3 131761868 131878566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 131761868 131878566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 131761910 131863339 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 131767609 131767709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 131776655 131776687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 131816832 131850296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 131818189 131843386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 131820498 131854406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 131826555 131872771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 131828301 131837700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 131830257 131835798 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 131830260 131835801 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr3 131845264 131974345 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 NOT_FOUND chr3 131880467 131948386 Copy number Lung cancer - 20668451 NOT_FOUND chr3 131880467 131948386 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 131880467 131948386 Gain or loss Cancer - 20668451 NOT_FOUND chr3 131880467 131948386 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 131880467 131948386 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 131880467 131948386 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 131880467 131948386 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 131880469 131948386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 131880469 131948386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 131880476 131948348 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 132013302 132013629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 132013385 132013629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 132013393 132013637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 132024558 132895939 LOH Normal High-resolution SNP genotyping 21211785 ACAD11,ACPP,CCRL1,DNAJC13,NPHP3,NPHP3-ACAD11,NPHP3-AS1,TMEM108,UBA5 chr3 132029195 132029887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 132029212 132029895 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 132045346 132646117 LOH Normal High-resolution SNP genotyping 21211785 ACAD11,ACPP,CCRL1,DNAJC13,NPHP3,NPHP3-ACAD11,NPHP3-AS1,UBA5 chr3 132045346 133195981 LOH Normal High-resolution SNP genotyping 21211785 ACAD11,ACPP,BFSP2,CCRL1,DNAJC13,NPHP3,NPHP3-ACAD11,NPHP3-AS1,TMEM108,UBA5 chr3 13207037 13207117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 132070406 132070780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACPP chr3 132070414 132070788 Gain and loss Pancreatic cancer SNP array 17952125 ACPP chr3 132095533 132218251 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC13 chr3 132096124 132218243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC13 chr3 132096124 132218243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC13 chr3 132115884 132115994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 132115887 132115994 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 132215411 132228336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAJC13 chr3 132215411 132228336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAJC13 chr3 132215419 132228344 Gain and loss Pancreatic cancer SNP array 17952125 DNAJC13 chr3 132228421 132551976 Gain and loss Pancreatic cancer SNP array 17952125 ACAD11,CCRL1,DNAJC13,NPHP3,NPHP3-ACAD11,NPHP3-AS1,UBA5 chr3 132231147 132551993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACAD11,CCRL1,DNAJC13,NPHP3,NPHP3-ACAD11,NPHP3-AS1,UBA5 chr3 132231147 132551993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAD11,CCRL1,DNAJC13,NPHP3,NPHP3-ACAD11,NPHP3-AS1,UBA5 chr3 132233950 133740926 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACAD11,BFSP2,C3orf36,CCRL1,CDV3,DNAJC13,NPHP3,NPHP3-ACAD11,NPHP3-AS1,RAB6B,SLCO2A1,SRPRB,TF,TMEM108,TOPBP1,UBA5 chr3 132294355 132294461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAD11,NPHP3-ACAD11 chr3 132294363 132294469 Gain and loss Pancreatic cancer SNP array 17952125 ACAD11,NPHP3-ACAD11 chr3 132294365 132294469 Gain and loss Pancreatic cancer SNP array 17952125 ACAD11,NPHP3-ACAD11 chr3 132313204 132313292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAD11,NPHP3-ACAD11 chr3 132346598 132346698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACAD11,NPHP3-ACAD11 chr3 132411171 132898251 Substitutions and indels small cell lung cancer array-CGH 20016488 NPHP3,NPHP3-ACAD11,NPHP3-AS1,TMEM108 chr3 132416221 132903008 Deletion small cell lung cancer array-CGH 20016488 NPHP3,NPHP3-ACAD11,NPHP3-AS1,TMEM108 chr3 132521895 132553743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NPHP3-AS1 chr3 132533091 132548645 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 NPHP3-AS1 chr3 132548646 132594820 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 NPHP3-AS1 chr3 132563454 132564081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPHP3-AS1 chr3 132563595 132563695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NPHP3-AS1 chr3 132580669 132580752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NPHP3-AS1 chr3 132583397 132587619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPHP3-AS1 chr3 132583397 132587619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPHP3-AS1 chr3 132583405 132587627 Gain and loss Pancreatic cancer SNP array 17952125 NPHP3-AS1 chr3 132619378 132619536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 132619386 132619544 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 132663735 132704519 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 132663736 132704519 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 132663736 132704519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 132663736 132704519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 132663744 132704527 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 132680631 132680767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 132680639 132680775 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 132735871 133902307 LOH Normal High-resolution SNP genotyping 21211785 BFSP2,C3orf36,CDV3,RAB6B,RYK,SLCO2A1,SRPRB,TF,TMEM108,TOPBP1 chr3 132736261 133241863 Gain and loss Pancreatic cancer SNP array 17952125 BFSP2,TMEM108 chr3 132736261 133241863 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 BFSP2,TMEM108 chr3 132736274 133241855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BFSP2,TMEM108 chr3 132736274 133241855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BFSP2,TMEM108 chr3 132736274 133241855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BFSP2,TMEM108 chr3 132756238 132756337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 132762418 134270318 LOH Normal High-resolution SNP genotyping 21211785 AMOTL2,ANAPC13,BFSP2,C3orf36,CDV3,CEP63,MIR4788,RAB6B,RYK,SLCO2A1,SRPRB,TF,TMEM108,TOPBP1 chr3 132762418 134280204 LOH Normal High-resolution SNP genotyping 21211785 AMOTL2,ANAPC13,BFSP2,C3orf36,CDV3,CEP63,MIR4788,RAB6B,RYK,SLCO2A1,SRPRB,TF,TMEM108,TOPBP1 chr3 132770725 132772796 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TMEM108 chr3 132770725 132772796 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 TMEM108 chr3 132797859 132798181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM108 chr3 132797955 132798055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM108 chr3 132806404 132806504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM108 chr3 132837353 132837627 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM108 chr3 132851993 132852302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM108 chr3 13285856 13303212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 132859504 132859604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM108 chr3 132903231 163989051 Substitutions and indels small cell lung cancer array-CGH 20016488 A4GNT,AADAC,AADACL2,ACPL2,AGTR1,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ATP1B3,ATR,B3GALNT1,BFSP2,BPESC1,C3orf33,C3orf36,C3orf55,C3orf58,C3orf72,C3orf79,C3orf80,CCNL1,CDV3,CEP63,CEP70,CHST2,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COMMD2,COPB2,CP,CPA3,CPB1,DBR1,DHX36,DZIP1L,EIF2A,EPHB1,ESYT3,FAIM,FAM194A,FOXL2,GFM1,GK5,GMPS,GPR149,GPR171,GPR87,GRK7,GYG1,HLTF,HLTF-AS1,HPS3,IFT80,IGSF10,IL12A,IL20RB,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,KY,LEKR1,LOC100289361,LOC100498859,LOC100507389,LOC100507537,LOC201651,LOC339894,LOC401093,LOC646903,LOC647107,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR15B,MIR16-2,MIR3919,MIR4788,MIR5186,MIR548H2,MLF1,MME,MRAS,MRPS22,MSL2,NCK1,NMD3,NME9,NMNAT3,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PCCB,PCOLCE2,PFN2,PIK3CB,PISRT1,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PPM1L,PPP2R3A,PRR23A,PRR23B,PRR23C,PTX3,RAB6B,RAP2B,RARRES1,RASA2,RBP1,RBP2,RNF13,RNF7,RSRC1,RYK,SCARNA7,SCHIP1,SELT,SERP1,SHOX2,SIAH2,SLC25A36,SLC33A1,SLC35G2,SLC9A9,SLC9A9-AS1,SLCO2A1,SMC4,SOX14,SPSB4,SPTSSB,SRPRB,SSR3,STAG1,SUCNR1,TF,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM108,TMEM14E,TOPBP1,TRIM42,TRIM59,TRPC1,TSC22D2,U2SURP,VEPH1,WWTR1,WWTR1-AS1,XRN1,ZBTB38,ZIC1,ZIC4 chr3 132977769 132977820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM108 chr3 132984136 133015108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM108 chr3 13300000 16400000 Deletion Lung cancer Relied on a multipoint score function 16773561 ANKRD28,BTD,C3orf20,CAPN7,CCDC174,CHCHD4,COL6A4P1,COLQ,DPH3,EAF1,FBLN2,FGD5,FGD5-AS1,GALNTL2,GRIP2,HACL1,HDAC11,LINC00620,LOC100132526,LOC100505696,LSM3,METTL6,MIR4270,MIR563,MRPS25,NR2C2,NUP210,OXNAD1,RFTN1,SH3BP5,SLC6A6,TMEM43,TPRXL,WNT7A,XPC,ZFYVE20 chr3 13300000 20919544 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ANKRD28,BTD,C3orf20,CAPN7,CCDC174,CHCHD4,COL6A4P1,COLQ,DAZL,DPH3,EAF1,EFHB,FBLN2,FGD5,FGD5-AS1,GALNTL2,GRIP2,HACL1,HDAC11,KAT2B,KCNH8,LINC00620,LOC100132526,LOC100505696,LOC339862,LSM3,METTL6,MIR3714,MIR4270,MIR4791,MIR563,MRPS25,NR2C2,NUP210,OXNAD1,PLCL2,PP2D1,RAB5A,RFTN1,SATB1,SGOL1,SGOL1-AS1,SH3BP5,SLC6A6,TBC1D5,TMEM43,TPRXL,WNT7A,XPC,ZFYVE20 chr3 13300000 39400000 Copy number Lynch syndrome Illumina BeadArrays and the GoldenGate assay 18415027 ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ARPP21,AZI2,BTD,C3orf20,C3orf35,CAPN7,CCDC174,CCR4,CCR8,CHCHD4,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL6A4P1,COLQ,CRTAP,CSRNP1,CTDSPL,CX3CR1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EFHB,EOMES,EPM2AIP1,EXOG,FBLN2,FBXL2,FGD5,FGD5-AS1,GADL1,GALNTL2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,HACL1,HDAC11,ITGA9,KAT2B,KCNH8,LINC00620,LOC100132526,LOC100505696,LOC152024,LOC285326,LOC339862,LOC644990,LOC645206,LRRC3B,LRRFIP2,LSM3,METTL6,MIR128-2,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4791,MIR4792,MIR548AC,MIR563,MLH1,MRPS25,MYD88,NEK10,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,PDCD6IP,PLCD1,PLCL2,PP2D1,RAB5A,RARB,RBMS3,RFTN1,RPL15,SATB1,SCN10A,SCN11A,SCN5A,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC4A7,SLC6A6,STAC,STT3B,SUSD5,TBC1D5,TGFBR2,THRB,TMEM43,TMPPE,TOP2B,TPRXL,TRANK1,TRIM71,TTC21A,UBE2E1,UBE2E2,UBP1,VENTXP7,VILL,WDR48,WNT7A,XIRP1,XPC,XYLB,ZCWPW2,ZFYVE20,ZNF385D,ZNF860 chr3 133016097 133016437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM108 chr3 133060875 133094140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM108 chr3 133102111 133102180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM108 chr3 133158501 133162600 Deletion Glioma mate-paired sequence 20126413 BFSP2 chr3 133160493 133160833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BFSP2 chr3 133188901 133198200 Deletion Glioma mate-paired sequence 20126413 BFSP2 chr3 133190545 133196544 Deletion Normal TaqMan assays 20972442 BFSP2 chr3 133190548 133232160 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BFSP2 chr3 133190951 133196089 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 BFSP2 chr3 133210745 133210777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 133231517 133231919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 133300564 158621191 Copy number Lung cancer paired-end sequencing 18438408 A4GNT,AADAC,AADACL2,ACPL2,AGTR1,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARMC8,ATP1B3,ATR,BPESC1,C3orf33,C3orf36,C3orf55,C3orf58,C3orf72,C3orf79,CCNL1,CDV3,CEP63,CEP70,CHST2,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COMMD2,COPB2,CP,CPA3,CPB1,DBR1,DHX36,DZIP1L,EIF2A,EPHB1,ESYT3,FAIM,FAM194A,FOXL2,GFM1,GK5,GMPS,GPR149,GPR171,GPR87,GRK7,GYG1,HLTF,HLTF-AS1,HPS3,IGSF10,IL20RB,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KY,LEKR1,LOC100289361,LOC100498859,LOC100507389,LOC100507537,LOC201651,LOC339894,LOC401093,LOC646903,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR4788,MIR5186,MIR548H2,MLF1,MME,MRAS,MRPS22,MSL2,NCK1,NME9,NMNAT3,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PCCB,PCOLCE2,PFN2,PIK3CB,PISRT1,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PPP2R3A,PRR23A,PRR23B,PRR23C,PTX3,RAB6B,RAP2B,RARRES1,RASA2,RBP1,RBP2,RNF13,RNF7,RSRC1,RYK,SELT,SERP1,SHOX2,SIAH2,SLC25A36,SLC33A1,SLC35G2,SLC9A9,SLC9A9-AS1,SLCO2A1,SOX14,SPSB4,SRPRB,SSR3,STAG1,SUCNR1,TF,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TOPBP1,TRIM42,TRPC1,TSC22D2,U2SURP,VEPH1,WWTR1,WWTR1-AS1,XRN1,ZBTB38,ZIC1,ZIC4 chr3 133309853 133343686 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TOPBP1 chr3 133310000 182990000 Gain Acute lymphoblastic leukemia - 21339820 A4GNT,AADAC,AADACL2,ACPL2,ACTL6A,ACTRT3,AGTR1,AMOTL2,ANAPC13,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ATP11B,ATP1B3,ATR,B3GALNT1,B3GNT5,BCHE,BPESC1,C3orf33,C3orf36,C3orf55,C3orf58,C3orf72,C3orf79,C3orf80,CCDC39,CCNL1,CEP63,CEP70,CHST2,CLDN11,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COMMD2,COPB2,CP,CPA3,CPB1,DBR1,DCUN1D1,DHX36,DNAJC19,DZIP1L,ECT2,EGFEM1P,EIF2A,EIF5A2,EPHB1,ESYT3,FAIM,FAM194A,FLJ46066,FNDC3B,FOXL2,FXR1,GFM1,GHSR,GK5,GMPS,GNB4,GOLIM4,GPR149,GPR160,GPR171,GPR87,GRK7,GYG1,HLTF,HLTF-AS1,HPS3,IFT80,IGSF10,IL12A,IL20RB,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KPNA4,KY,LAMP3,LEKR1,LINC00578,LOC100128164,LOC100289361,LOC100498859,LOC100507389,LOC100507537,LOC201651,LOC339894,LOC401093,LOC646168,LOC646903,LOC647107,LOC730091,LRRC31,LRRC34,LRRIQ4,LXN,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFN1,MFSD1,MIR15B,MIR16-2,MIR3919,MIR4788,MIR4789,MIR5186,MIR548H2,MIR551B,MIR569,MLF1,MME,MRAS,MRPL47,MRPS22,MSL2,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NCK1,NDUFB5,NLGN1,NMD3,NME9,NMNAT3,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PCCB,PCOLCE2,PDCD10,PEX5L,PFN2,PHC3,PIK3CA,PIK3CB,PISRT1,PLCH1,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PPM1L,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PTX3,RAB6B,RAP2B,RARRES1,RASA2,RBP1,RBP2,RNF13,RNF7,RPL22L1,RSRC1,RYK,SAMD7,SCARNA7,SCHIP1,SEC62,SELT,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC25A36,SLC2A2,SLC33A1,SLC35G2,SLC7A14,SLC9A9,SLC9A9-AS1,SLCO2A1,SLITRK3,SMC4,SOX14,SOX2,SOX2-OT,SPATA16,SPSB4,SPTSSB,SRPRB,SSR3,STAG1,SUCNR1,TBL1XR1,TERC,TF,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TMEM212,TNFSF10,TNIK,TOPBP1,TRIM42,TRIM59,TRPC1,TSC22D2,TTC14,U2SURP,USP13,VEPH1,WDR49,WWTR1,WWTR1-AS1,XRN1,ZBBX,ZBTB38,ZIC1,ZIC4,ZMAT3,ZNF639 chr3 133317161 133317261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 13332736 13436809 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NUP210 chr3 13332737 13436809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NUP210 chr3 13332737 13436809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NUP210 chr3 13332737 13436809 Gain and loss Pancreatic cancer SNP array 17952125 NUP210 chr3 13332737 13436809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NUP210 chr3 133346940 133386054 Loss Normal Birdsuite, version 1.5.2 22087296 TOPBP1 chr3 133361806 133361859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TOPBP1 chr3 13339869 13371552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NUP210 chr3 133426459 133822407 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 C3orf36,RAB6B,SLCO2A1,SRPRB,TF chr3 133426459 133822407 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 C3orf36,RAB6B,SLCO2A1,SRPRB,TF chr3 133440876 133482632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TF chr3 133445068 133445744 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 133461233 133486794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TF chr3 133466442 133478285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TF chr3 133471317 133483154 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 TF chr3 133471782 133477740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TF chr3 133475451 133478387 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 TF chr3 133475463 133478374 Loss Normal Birdsuite, version 1.5.2 22087296 TF chr3 133518941 133569831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAB6B,SRPRB chr3 133518941 133569831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB6B,SRPRB chr3 133518949 133569839 Gain and loss Pancreatic cancer SNP array 17952125 RAB6B,SRPRB chr3 133549386 133549486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB6B chr3 133553571 133553658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB6B chr3 133561136 134107028 LOH Normal High-resolution SNP genotyping 21211785 AMOTL2,C3orf36,RAB6B,RYK,SLCO2A1 chr3 133567506 133567606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB6B chr3 133584562 133584623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB6B chr3 133602787 133603329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB6B chr3 133602795 133603337 Gain and loss Pancreatic cancer SNP array 17952125 RAB6B chr3 133619194 133740570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf36,SLCO2A1 chr3 133619194 133740570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf36,SLCO2A1 chr3 133657836 133659891 Gain and loss Pancreatic cancer SNP array 17952125 SLCO2A1 chr3 133665315 133740571 Gain and loss Pancreatic cancer SNP array 17952125 SLCO2A1 chr3 133668239 133668334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLCO2A1 chr3 133681173 133726266 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLCO2A1 chr3 133747651 142812794 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-416K arrays 21546498 A4GNT,ACPL2,AMOTL2,ANAPC13,ARMC8,ATP1B3,ATR,BPESC1,C3orf72,CEP63,CEP70,CLDN18,CLSTN2,COPB2,DBR1,DZIP1L,EPHB1,ESYT3,FAIM,FOXL2,GK5,GRK7,IL20RB,KY,LOC100289361,LOC100507389,MIR4788,MRAS,MRPS22,MSL2,NCK1,NME9,NMNAT3,PAQR9,PCCB,PCOLCE2,PIK3CB,PISRT1,PLS1,PPP2R3A,PRR23A,PRR23B,PRR23C,RASA2,RBP1,RBP2,RNF7,RYK,SLC25A36,SLC35G2,SLCO2A1,SOX14,SPSB4,STAG1,TFDP2,TRIM42,TRPC1,U2SURP,XRN1,ZBTB38 chr3 133759672 133923993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RYK chr3 133759672 133923993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RYK chr3 133759684 133924001 Gain and loss Pancreatic cancer SNP array 17952125 RYK chr3 133764092 133764192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 133793707 133793767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 133798783 133804072 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 133798783 133804072 Gain or loss Cancer - 20668451 NOT_FOUND chr3 133798783 133804072 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 133798783 133804072 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 133798783 133804072 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 133798783 133804072 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 133798784 133804072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 133798784 133804072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 133798792 133804080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 133854621 133854721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 133861829 133879634 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 RYK chr3 133861836 133879311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RYK chr3 133861836 133879311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RYK chr3 133861844 133879319 Gain and loss Pancreatic cancer SNP array 17952125 RYK chr3 133870460 133905739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RYK chr3 133899162 133899262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYK chr3 133969263 133980309 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 RYK chr3 133975632 135058555 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMOTL2,ANAPC13,CEP63,EPHB1,KY,MIR4788 chr3 133975632 135058555 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AMOTL2,ANAPC13,CEP63,EPHB1,KY,MIR4788 chr3 1340329 1341895 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 CNTN6 chr3 1340329 1341895 Total allelic loss Normal High-resolution SNP genotyping 21211785 CNTN6 chr3 134050927 134051012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1340574 1341706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN6 chr3 134124291 134124381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 134193844 134210763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANAPC13,CEP63 chr3 134231150 134231250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP63 chr3 134239943 134597745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP63,EPHB1,KY chr3 134239943 134597745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP63,EPHB1,KY chr3 134246349 134246442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CEP63 chr3 134282181 134282425 Loss Normal 244K array 17666407 CEP63 chr3 134299060 134299270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 134317101 139176774 Gain Developmental delay affymetrix genechip 500K/SNP 6.19 array 21147756 A4GNT,ARMC8,BPESC1,C3orf72,CEP70,CLDN18,COPB2,DBR1,DZIP1L,EPHB1,ESYT3,FAIM,FOXL2,IL20RB,KY,MRAS,MRPS22,MSL2,NCK1,NME9,PCCB,PIK3CB,PISRT1,PPP2R3A,PRR23A,PRR23B,PRR23C,RBP2,SLC35G2,SOX14,STAG1 chr3 134319874 146112847 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-397K arrays 21546498 A4GNT,ACPL2,ARMC8,ATP1B3,ATR,BPESC1,C3orf58,C3orf72,CEP70,CHST2,CLDN18,CLSTN2,COPB2,DBR1,DZIP1L,EPHB1,ESYT3,FAIM,FOXL2,GK5,GRK7,IL20RB,KY,LOC100289361,LOC100507389,MRAS,MRPS22,MSL2,NCK1,NME9,NMNAT3,PAQR9,PCCB,PCOLCE2,PIK3CB,PISRT1,PLOD2,PLS1,PLSCR4,PPP2R3A,PRR23A,PRR23B,PRR23C,RASA2,RBP1,RBP2,RNF7,SLC25A36,SLC35G2,SLC9A9,SLC9A9-AS1,SOX14,SPSB4,STAG1,TFDP2,TRIM42,TRPC1,U2SURP,XRN1,ZBTB38 chr3 134359658 134359717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KY chr3 134360246 134360336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KY chr3 13438001 13495500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NUP210 chr3 134380258 134380336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 134416844 134416944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 134419558 134419658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 134428231 134428331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 13446316 13446406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUP210 chr3 134483189 134498594 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 134491286 134491379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 134498161 134515175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPHB1 chr3 134545401 134773100 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPHB1 chr3 134547741 134547789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134557971 134558071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134565289 134597753 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 13456702 13456802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NUP210 chr3 134601480 134676746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134601480 134676746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134601488 134676754 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134620684 134622835 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 EPHB1 chr3 134620684 134622835 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 EPHB1 chr3 134628143 134648275 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 EPHB1 chr3 134660643 134660726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134683045 134683145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134687385 134687468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134687393 134687476 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134692002 134726056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPHB1 chr3 134692336 134693097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134692368 134693105 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134697060 134697116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134698836 134698936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134717765 134718215 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPHB1 chr3 134719509 134776852 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EPHB1 chr3 134752720 134752849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134752781 134752860 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134752790 134752857 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134765903 134765981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134775123 134791806 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 EPHB1 chr3 134775264 134804811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134775264 134804811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134775272 134791802 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134802138 134863427 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 EPHB1 chr3 134802140 134863380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134802140 134863380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134802185 134863388 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134802859 134802959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134814118 134818411 Gain Autism 1M Ailent CGH whole-genome array 21865298 EPHB1 chr3 134823292 134823392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 134866460 134866566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134866468 134866574 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134874301 135430900 Copy number Normal ReadDepth: A Parallel R Package 21305028 EPHB1 chr3 134901901 134980540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134901901 134980540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134911610 134911701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB1 chr3 134911615 134911714 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134911628 134911717 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 134947933 134980333 Gain and loss Pancreatic cancer SNP array 17952125 EPHB1 chr3 13495501 13515000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 134957247 134957297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB1 chr3 13496782 13521834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HDAC11 chr3 13496782 13521834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HDAC11 chr3 13496824 13521834 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 HDAC11 chr3 13496824 13521834 Gain and loss Pancreatic cancer SNP array 17952125 HDAC11 chr3 134968565 135013366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPHB1 chr3 134986457 134987772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 1 3500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 1 3500000 Copy number Normal - 21701786 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 1 3500000 Deletion or duplication Autism high-density microarrays 22241247 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 1 3500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 1 3500000 Duplication Intellectual disability - 22045946 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 1 3500000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 1 3500000 Loss Squamous cell cancer array-CGH 19607727 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 1 3500000 Microdeletions or microduplications sporadic birth defects aCGH 19047251 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 135007337 135022220 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 135007355 135022213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135007355 135022213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135025769 135097381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135025769 135097381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135025785 135097137 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 135037501 135044000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 135111872 135111946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 135129840 135130337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135129848 135130345 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 135134236 135231439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135134236 135231439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135134244 135231447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 13515001 13536500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC11 chr3 135186024 135186124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 135194647 136316625 LOH Normal High-resolution SNP genotyping 21211785 MSL2,PCCB,PPP2R3A,STAG1 chr3 135240665 136086374 LOH Normal High-resolution SNP genotyping 21211785 MSL2,PCCB,PPP2R3A,STAG1 chr3 135289367 135289467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 13531118 13531201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HDAC11 chr3 135332449 135332506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 135358667 135452276 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 135358667 135452276 Gain or loss Cancer - 20668451 NOT_FOUND chr3 135358667 135452276 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 135358667 135452276 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 135358667 135452276 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 135358667 135452276 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 135358668 135452184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135358668 135452184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135359135 135452192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 13536501 13586000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HDAC11 chr3 135399880 135399980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 135409558 135409658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 135430901 135835700 Copy number Normal ReadDepth: A Parallel R Package 21305028 PPP2R3A chr3 13543991 13808365 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 FBLN2,HDAC11,LINC00620 chr3 135464208 135464289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 135483785 199501827 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-390K arrays 21546498 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACPL2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AGTR1,AHSG,ALG3,ANKRD18DP,ANKUB1,AP2M1,APOD,ARHGEF26,ARHGEF26-AS1,ARL14,ARMC8,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATR,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,BPESC1,C3orf33,C3orf43,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CEP19,CEP70,CHRD,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLRN1,CLRN1-AS1,CLSTN2,COMMD2,COPB2,CP,CPA3,CPB1,CPN2,CRYGS,DBR1,DCUN1D1,DGKG,DHX36,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,DZIP1L,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM194A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FXR1,FYTTD1,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLIM4,GP5,GPR149,GPR160,GPR171,GPR87,GRK7,GYG1,HES1,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IL20RB,IQCG,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100289361,LOC100498859,LOC100505687,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR4797,MIR5186,MIR548H2,MIR551B,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MLF1,MME,MRAS,MRPL47,MRPS22,MSL2,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB5,NLGN1,NMD3,NME9,NMNAT3,OPA1,OPA1-AS1,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PCCB,PCOLCE2,PCYT1A,PDCD10,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PIK3CB,PISRT1,PLCH1,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,POLR2H,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTX3,PYDC2,RAP2B,RARRES1,RASA2,RBP1,RBP2,RFC4,RNF13,RNF168,RNF7,RPL22L1,RPL35A,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SELT,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC25A36,SLC2A2,SLC33A1,SLC35G2,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX14,SOX2,SOX2-OT,SPATA16,SPSB4,SPTSSB,SSR3,SST,ST6GAL1,STAG1,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFDP2,TFRC,THPO,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMEM14E,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM42,TRIM59,TRPC1,TSC22D2,TTC14,U2SURP,UBXN7,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBTB38,ZDHHC19,ZIC1,ZIC4,ZMAT3,ZNF639 chr3 135553384 135558093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135553473 135553628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 135556880 135576096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135556880 135576096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135556888 135576059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 135570250 135570350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 135611576 135611672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135639132 135639619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 135639146 135639691 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 13565625 13654922 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FBLN2 chr3 13565625 13654922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBLN2 chr3 13565625 13654922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBLN2 chr3 13565662 13654909 Gain and loss Pancreatic cancer SNP array 17952125 FBLN2 chr3 135679240 135687519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R3A chr3 135679240 135687519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R3A chr3 135679246 135687563 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R3A chr3 135683732 135693445 Loss Normal 244K array 17666407 PPP2R3A chr3 135687265 135776543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPP2R3A chr3 135687265 135776543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R3A chr3 135687283 135776551 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R3A chr3 13568837 13596782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBLN2 chr3 135700000 137400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 IL20RB,MSL2,NCK1,PCCB,PPP2R3A,SLC35G2,STAG1 chr3 1357001 1525502 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 CNTN6 chr3 135738836 135738936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP2R3A chr3 135753400 135759850 Gain Autism 1M Ailent CGH whole-genome array 21865298 PPP2R3A chr3 135765543 137788143 Copy number Schizophrenia - 18511947 CLDN18,DZIP1L,IL20RB,MSL2,NCK1,PCCB,PPP2R3A,SLC35G2,SOX14,STAG1 chr3 135805111 135853168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPP2R3A chr3 135805119 135852562 Gain and loss Pancreatic cancer SNP array 17952125 PPP2R3A chr3 135814 540961 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHL1 chr3 135814 653347 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHL1 chr3 135814 89708135 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 135829805 135829905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP2R3A chr3 135835701 137100700 Copy number Normal ReadDepth: A Parallel R Package 21305028 IL20RB,MSL2,NCK1,PCCB,PPP2R3A,SLC35G2,STAG1 chr3 13586001 13591500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBLN2 chr3 135873922 135901367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MSL2 chr3 135912712 136654256 LOH Normal High-resolution SNP genotyping 21211785 MSL2,NCK1,PCCB,SLC35G2,STAG1 chr3 13591501 13732500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBLN2,LINC00620 chr3 135981330 136521585 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCCB,STAG1 chr3 135982059 135982159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCCB chr3 135982067 135982167 Gain and loss Pancreatic cancer SNP array 17952125 PCCB chr3 135984968 135985087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCCB chr3 135984982 135985091 Gain and loss Pancreatic cancer SNP array 17952125 PCCB chr3 135985006 135985095 Gain and loss Pancreatic cancer SNP array 17952125 PCCB chr3 135996944 136461995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCCB,STAG1 chr3 135996944 136461995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCCB,STAG1 chr3 135996949 136461997 Copy number Lung cancer - 20668451 PCCB,STAG1 chr3 135996949 136461997 Gain or loss Breast cancer - 20668451 PCCB,STAG1 chr3 135996949 136461997 Gain or loss Cancer - 20668451 PCCB,STAG1 chr3 135996949 136461997 Gain or loss Lung cancer - 20668451 PCCB,STAG1 chr3 135996949 136461997 Gain or loss Ovarian cancer - 20668451 PCCB,STAG1 chr3 135996949 136461997 Gain or loss Pancreas cancer - 20668451 PCCB,STAG1 chr3 135996949 136461997 Gain or loss Prostate cancer - 20668451 PCCB,STAG1 chr3 135996958 136461353 Gain and loss Pancreatic cancer SNP array 17952125 PCCB,STAG1 chr3 135997183 135997608 Gain and loss Pancreatic cancer SNP array 17952125 PCCB chr3 135997233 135997333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCCB chr3 136003981 136004981 Gain Chordoma References 21215367 PCCB chr3 136056812 136056912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAG1 chr3 136072663 136521585 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 STAG1 chr3 136133192 136133292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAG1 chr3 136142849 136143067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STAG1 chr3 136154801 136159100 Deletion Glioma mate-paired sequence 20126413 STAG1 chr3 136156593 136157245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STAG1 chr3 136325225 136326996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STAG1 chr3 136332787 136365341 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STAG1 chr3 136357175 136357255 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 STAG1 chr3 13637848 13669998 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FBLN2 chr3 136439927 136440027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAG1 chr3 136449926 136450926 Gain Chordoma References 21215367 STAG1 chr3 136497582 136498501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 136527556 136643170 Copy number gain Normal High-resolution SNP genotyping 21211785 NCK1,SLC35G2 chr3 13656184 13657273 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FBLN2 chr3 136628456 136628556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCK1 chr3 136643170 138158168 LOH Normal High-resolution SNP genotyping 21211785 A4GNT,ARMC8,CLDN18,DBR1,DZIP1L,ESYT3,IL20RB,MRAS,NCK1,NME9,SOX14 chr3 136669804 136669904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 136673345 136673445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 136744052 136744152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 136763070 136763107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 136771339 138247446 LOH Normal High-resolution SNP genotyping 21211785 A4GNT,ARMC8,CEP70,CLDN18,DBR1,DZIP1L,ESYT3,MRAS,NME9,SOX14 chr3 13682416 13684365 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 136829732 138239610 LOH Normal High-resolution SNP genotyping 21211785 A4GNT,ARMC8,CEP70,CLDN18,DBR1,DZIP1L,ESYT3,MRAS,NME9,SOX14 chr3 136876322 136876422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 136877011 136877051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 136891829 139071546 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 A4GNT,ARMC8,BPESC1,C3orf72,CEP70,CLDN18,DBR1,DZIP1L,ESYT3,FAIM,FOXL2,MRAS,MRPS22,NME9,PIK3CB,PISRT1,PRR23A,PRR23B,PRR23C,SOX14 chr3 136891829 139071546 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 A4GNT,ARMC8,BPESC1,C3orf72,CEP70,CLDN18,DBR1,DZIP1L,ESYT3,FAIM,FOXL2,MRAS,MRPS22,NME9,PIK3CB,PISRT1,PRR23A,PRR23B,PRR23C,SOX14 chr3 136945689 136945744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 137061307 137061407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 137100701 140288500 Copy number Normal ReadDepth: A Parallel R Package 21305028 A4GNT,ARMC8,BPESC1,C3orf72,CEP70,CLDN18,CLSTN2,COPB2,DBR1,DZIP1L,ESYT3,FAIM,FOXL2,MRAS,MRPS22,NME9,NMNAT3,PIK3CB,PISRT1,PRR23A,PRR23B,PRR23C,RBP1,RBP2,SOX14 chr3 137102231 137102331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 137108877 138190651 LOH Normal High-resolution SNP genotyping 21211785 A4GNT,ARMC8,CLDN18,DBR1,DZIP1L,ESYT3,MRAS,NME9,SOX14 chr3 137147474 137151517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 137167256 137349423 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 137167256 137349423 Gain or loss Cancer - 20668451 NOT_FOUND chr3 137167256 137349423 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 137167256 137349423 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 137167256 137349423 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 137167256 137349423 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 137167257 137349423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 137167257 137349423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 137167265 137349431 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 137178964 137189056 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 137178964 137196273 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 13721726 13721785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00620 chr3 137236987 137237072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 137240582 137240676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 137254896 137299333 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 137347605 137360384 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 137350450 137397378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 137350450 137397378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 137350458 137397386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 137400000 140400000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 A4GNT,ARMC8,BPESC1,C3orf72,CEP70,CLDN18,CLSTN2,COPB2,DBR1,DZIP1L,ESYT3,FAIM,FOXL2,MRAS,MRPS22,NME9,NMNAT3,PIK3CB,PISRT1,PRR23A,PRR23B,PRR23C,RBP1,RBP2,SOX14,TRIM42 chr3 137400000 140400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A4GNT,ARMC8,BPESC1,C3orf72,CEP70,CLDN18,CLSTN2,COPB2,DBR1,DZIP1L,ESYT3,FAIM,FOXL2,MRAS,MRPS22,NME9,NMNAT3,PIK3CB,PISRT1,PRR23A,PRR23B,PRR23C,RBP1,RBP2,SOX14,TRIM42 chr3 137400000 140400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 A4GNT,ARMC8,BPESC1,C3orf72,CEP70,CLDN18,CLSTN2,COPB2,DBR1,DZIP1L,ESYT3,FAIM,FOXL2,MRAS,MRPS22,NME9,NMNAT3,PIK3CB,PISRT1,PRR23A,PRR23B,PRR23C,RBP1,RBP2,SOX14,TRIM42 chr3 137451846 137531703 Gain and loss Pancreatic cancer SNP array 17952125 SOX14 chr3 137451857 137531701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SOX14 chr3 137451857 137531701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX14 chr3 137464270 137768886 Deletion Intellectual disability Array CGH 22102821 CLDN18,SOX14 chr3 137500156 137533247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 137500658 137518877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 137501558 137548320 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 137503448 138291192 LOH Normal High-resolution SNP genotyping 21211785 A4GNT,ARMC8,CEP70,CLDN18,DBR1,DZIP1L,ESYT3,MRAS,NME9 chr3 137503463 137508985 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 137503692 137509028 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 NOT_FOUND chr3 137503704 137508888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 137537774 137953918 Gain and loss Pancreatic cancer SNP array 17952125 A4GNT,ARMC8,CLDN18,DBR1,DZIP1L chr3 137538689 137953935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 A4GNT,ARMC8,CLDN18,DBR1,DZIP1L chr3 137538689 137953935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 A4GNT,ARMC8,CLDN18,DBR1,DZIP1L chr3 13754564 13754630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00620 chr3 137549088 137549172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 137611769 137611869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 137631609 137631715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 137631624 137631723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 137631632 137631723 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 137705682 137737494 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLDN18 chr3 137783983 137784083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DZIP1L chr3 137789741 137789843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DZIP1L chr3 137789749 137789848 Gain and loss Pancreatic cancer SNP array 17952125 DZIP1L chr3 137789749 137789849 Gain and loss Pancreatic cancer SNP array 17952125 DZIP1L chr3 137800000 149700000 Deletion abnormal development HR-CGH, Array-CGH 18461090 A4GNT,ACPL2,AGTR1,ANKUB1,ARMC8,ATP1B3,ATR,BPESC1,C3orf58,C3orf72,CEP70,CHST2,CLSTN2,COMMD2,COPB2,CP,CPA3,CPB1,DBR1,DZIP1L,ESYT3,FAIM,FOXL2,GK5,GRK7,GYG1,HLTF,HLTF-AS1,HPS3,LOC100289361,LOC100507389,LOC646903,MRAS,MRPS22,NME9,NMNAT3,PAQR9,PCOLCE2,PFN2,PIK3CB,PISRT1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PRR23A,PRR23B,PRR23C,RASA2,RBP1,RBP2,RNF13,RNF7,SLC25A36,SLC9A9,SLC9A9-AS1,SPSB4,TFDP2,TM4SF1,TM4SF18,TM4SF4,TRIM42,TRPC1,U2SURP,WWTR1,WWTR1-AS1,XRN1,ZBTB38,ZIC1,ZIC4 chr3 13783501 13897500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00620,WNT7A chr3 137839259 137839359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 137845245 137845367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 A4GNT chr3 137938033 137938388 Gain and loss Pancreatic cancer SNP array 17952125 ARMC8 chr3 137946526 137946626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARMC8 chr3 137963443 137975092 Loss Normal 244K array 17666407 ARMC8 chr3 1379689 1563295 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CNTN6 chr3 137980024 137980395 Gain Normal 244K array 17666407 ARMC8,NME9 chr3 138008957 138032979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARMC8,NME9 chr3 138020550 138057424 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NME9 chr3 138020551 138057422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NME9 chr3 138020551 138057422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NME9 chr3 138020559 138057424 Gain and loss Pancreatic cancer SNP array 17952125 NME9 chr3 138033840 138033940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NME9 chr3 138041239 138041309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NME9 chr3 138063762 138150658 Gain or loss Breast cancer - 20668451 MRAS chr3 138063762 138150658 Gain or loss Cancer - 20668451 MRAS chr3 138063762 138150658 Gain or loss Lung cancer - 20668451 MRAS chr3 138063762 138150658 Gain or loss Ovarian cancer - 20668451 MRAS chr3 138063762 138150658 Gain or loss Pancreas cancer - 20668451 MRAS chr3 138063762 138150658 Gain or loss Prostate cancer - 20668451 MRAS chr3 138063763 138150657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRAS chr3 138063763 138150657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRAS chr3 138063763 138150658 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 MRAS chr3 138063771 138150665 Gain and loss Pancreatic cancer SNP array 17952125 MRAS chr3 138100599 138101608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRAS chr3 138100599 138101608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRAS chr3 138100616 138101616 Gain and loss Pancreatic cancer SNP array 17952125 MRAS chr3 138157267 138781937 LOH Normal High-resolution SNP genotyping 21211785 C3orf72,CEP70,ESYT3,FAIM,FOXL2,PIK3CB,PRR23A,PRR23B,PRR23C chr3 138158168 140319298 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BPESC1,C3orf72,CEP70,CLSTN2,COPB2,ESYT3,FAIM,FOXL2,MRPS22,NMNAT3,PIK3CB,PISRT1,PRR23A,PRR23B,PRR23C,RBP1,RBP2 chr3 138158673 138158733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ESYT3 chr3 138159397 138212610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ESYT3 chr3 138159397 138212610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ESYT3 chr3 138159405 138212622 Gain and loss Pancreatic cancer SNP array 17952125 ESYT3 chr3 138234746 138260051 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP70 chr3 13835082 13896619 Gain or loss Breast cancer - 20668451 WNT7A chr3 13835082 13896619 Gain or loss Cancer - 20668451 WNT7A chr3 13835082 13896619 Gain or loss Lung cancer - 20668451 WNT7A chr3 13835082 13896619 Gain or loss Ovarian cancer - 20668451 WNT7A chr3 13835082 13896619 Gain or loss Pancreas cancer - 20668451 WNT7A chr3 13835082 13896619 Gain or loss Prostate cancer - 20668451 WNT7A chr3 13835083 13896619 Gain and loss Pancreatic cancer SNP array 17952125 WNT7A chr3 13835085 13896619 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 WNT7A chr3 13835085 13896619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WNT7A chr3 13835085 13896619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WNT7A chr3 138390659 138428065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3CB chr3 138460967 138461043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3CB chr3 138510358 138510635 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 138510358 138513506 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 138513520 138515487 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 138514046 138522577 Loss Normal 244K array 17666407 NOT_FOUND chr3 138553001 138558000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 138555052 138556136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 138577066 138720187 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C3orf72,FOXL2 chr3 138663066 138665982 Copy number Disorders of sex development FISH,Human OmniExpress microarray 22315593 FOXL2 chr3 138663066 138665982 Deletion Blepharophimosis-ptosis-epicanthus inversus syndrome Quantitative real time PCR 21321671 FOXL2 chr3 138664031 138665031 Loss Chordoma References 21215367 FOXL2 chr3 13867006 13890672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WNT7A chr3 138681643 139344447 LOH Normal High-resolution SNP genotyping 21211785 BPESC1,COPB2,MRPS22,NMNAT3,PISRT1,PRR23A,PRR23B,PRR23C,RBP1,RBP2 chr3 138719672 138719787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 138719687 138719794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 138719706 138719795 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 138794898 139639233 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BPESC1,COPB2,MRPS22,NMNAT3,PISRT1,RBP1,RBP2 chr3 138797145 138799120 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 13885069 13885216 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 WNT7A chr3 138853794 140067105 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,COPB2,MRPS22,NMNAT3,PISRT1,RBP1,RBP2 chr3 138892423 139533332 LOH Normal High-resolution SNP genotyping 21211785 COPB2,MRPS22,NMNAT3,PISRT1,RBP1,RBP2 chr3 138892423 139538781 LOH Normal High-resolution SNP genotyping 21211785 COPB2,MRPS22,NMNAT3,PISRT1,RBP1,RBP2 chr3 13889937 13891294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 WNT7A chr3 138927002 140872802 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,COPB2,MRPS22,NMNAT3,PISRT1,RBP1,RBP2,SLC25A36,SPSB4,TRIM42 chr3 138932995 139507539 LOH Normal High-resolution SNP genotyping 21211785 COPB2,MRPS22,NMNAT3,PISRT1,RBP1,RBP2 chr3 138966269 138967086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 138966269 138967086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 138966277 138967094 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 13897501 14140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100132526,TPRXL,WNT7A chr3 139014220 139533332 LOH Normal High-resolution SNP genotyping 21211785 COPB2,MRPS22,NMNAT3,RBP1,RBP2 chr3 139014220 139538781 LOH Normal High-resolution SNP genotyping 21211785 COPB2,MRPS22,NMNAT3,RBP1,RBP2 chr3 139015037 139015187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139022255 140332517 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,COPB2,MRPS22,NMNAT3,RBP1,RBP2 chr3 139039960 139048075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 139058869 139058969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139063310 139063421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS22 chr3 139094487 139416533 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 COPB2,NMNAT3,RBP1,RBP2 chr3 139103745 139103845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COPB2 chr3 139107071 139107171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COPB2 chr3 139138278 139153439 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 139138720 139150312 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 139140202 139150312 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 13915001 14092100 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC100132526,TPRXL,WNT7A chr3 139157965 139158065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139181111 139181211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBP2 chr3 139193331 140177645 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1,RBP2 chr3 139193331 140326476 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1,RBP2 chr3 139193331 140808960 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1,RBP2,SLC25A36,SPSB4,TRIM42 chr3 139196681 140135472 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1 chr3 139200348 139235184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 139200348 139235184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 139200356 139235188 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 139210939 140484555 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1,TRIM42 chr3 139210939 141050662 LOH Normal High-resolution SNP genotyping 21211785 ACPL2,CLSTN2,NMNAT3,RBP1,SLC25A36,SPSB4,TRIM42,ZBTB38 chr3 139222314 139222398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 13922839 13954598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 139230240 140319298 Copy number gain Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1 chr3 139230549 139416533 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NMNAT3,RBP1 chr3 139248290 139330014 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NMNAT3,RBP1 chr3 139248290 139330014 Copy number gain Normal High-resolution SNP genotyping 21211785 NMNAT3,RBP1 chr3 139251802 139330014 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NMNAT3,RBP1 chr3 139251802 139330014 Copy number gain Normal High-resolution SNP genotyping 21211785 NMNAT3,RBP1 chr3 139251802 140092773 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1 chr3 139256535 140080585 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1 chr3 139256535 140332517 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,RBP1 chr3 139263524 139317141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139263524 139317141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139263532 139317149 Gain and loss Pancreatic cancer SNP array 17952125 NMNAT3 chr3 139275552 139275652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139303030 139304310 Gain and loss Pancreatic cancer SNP array 17952125 NMNAT3 chr3 139303043 139304308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139325085 140326476 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3 chr3 139325085 140421065 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,TRIM42 chr3 139325252 139333919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139325252 139333919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139325765 139333905 Gain and loss Pancreatic cancer SNP array 17952125 NMNAT3 chr3 139326750 140131235 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3 chr3 139340487 139341487 Loss Chordoma References 21215367 NMNAT3 chr3 139342416 139342716 Gain Chordoma References 21215367 NMNAT3 chr3 139360283 139360383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NMNAT3 chr3 139362547 139376463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139362547 139376463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139362913 139376444 Gain and loss Pancreatic cancer SNP array 17952125 NMNAT3 chr3 139383799 140067105 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3 chr3 139383799 140131235 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3 chr3 139383799 140168211 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3 chr3 139383799 140177645 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3 chr3 139383799 140326476 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3 chr3 139383799 140332517 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3 chr3 139383799 140517028 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2,NMNAT3,TRIM42 chr3 139388000 139498000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NMNAT3 chr3 139388838 139498909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139388838 139498909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NMNAT3 chr3 139388846 139498917 Gain and loss Pancreatic cancer SNP array 17952125 NMNAT3 chr3 139406067 139406167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139423319 140168211 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2 chr3 139428406 139463446 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 13943365 13944243 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 13944582 14068739 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LOC100132526,TPRXL chr3 139449158 139449217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139462000 139531000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 139462969 139530895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 139462969 139530895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 139462977 139530903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 139482392 139482461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139504780 139504880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 13953902 14082480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100132526,TPRXL chr3 13953902 14082480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100132526,TPRXL chr3 139543326 140131235 LOH Normal High-resolution SNP genotyping 21211785 CLSTN2 chr3 139549000 139607000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 139549237 139604670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 139549314 139607067 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 139549314 139607067 Gain or loss Cancer - 20668451 NOT_FOUND chr3 139549314 139607067 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 139549314 139607067 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 139549314 139607067 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 139549314 139607067 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 139549315 139607067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 139549315 139607067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 139554462 139554562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139583186 139583286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 139636000 139679000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 139636109 139678399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139636109 139678399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139636126 139678592 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN2 chr3 139692042 140078942 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 CLSTN2 chr3 139695000 139795000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 139695879 139795819 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 139695879 139795819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139695879 139795819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139695887 139795827 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN2 chr3 139700423 139700455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 139732796 140171095 Duplication Dyslexia Array CGH 22102821 CLSTN2 chr3 139810000 139834000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 139810146 139834909 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN2 chr3 139810232 139834901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 139810232 139834901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139810232 139834901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139830639 139830694 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 CLSTN2 chr3 139845056 139845131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 139845406 139846226 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 139845406 139846226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139845427 139846222 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN2 chr3 139847226 139847326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 139855562 139960883 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN2 chr3 139856000 139960000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 139856920 139960875 Gain or loss Breast cancer - 20668451 CLSTN2 chr3 139856920 139960875 Gain or loss Cancer - 20668451 CLSTN2 chr3 139856920 139960875 Gain or loss Lung cancer - 20668451 CLSTN2 chr3 139856920 139960875 Gain or loss Ovarian cancer - 20668451 CLSTN2 chr3 139856920 139960875 Gain or loss Pancreas cancer - 20668451 CLSTN2 chr3 139856920 139960875 Gain or loss Prostate cancer - 20668451 CLSTN2 chr3 139856920 139960875 Gain Ovarian cancer Array CGH 17875760 CLSTN2 chr3 139856921 139960875 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 139856921 139960875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139856921 139960875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139888517 139888617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 139901538 139901622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 139934042 140070771 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 CLSTN2 chr3 139952496 139952596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 139961461 139961738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 139979472 139980353 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN2 chr3 1 4000000 Duplication Mental retardation array CGH 17124404 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,LRRN1,TRNT1 chr3 140022501 140137500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLSTN2 chr3 140026905 140062209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLSTN2 chr3 140030615 140104736 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CLSTN2 chr3 140101545 140101610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 140113361 143948560 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-426K arrays 21546498 ACPL2,ATP1B3,ATR,C3orf58,CHST2,CLSTN2,GK5,GRK7,LOC100289361,LOC100507389,PAQR9,PCOLCE2,PLS1,RASA2,RNF7,SLC25A36,SLC9A9,SLC9A9-AS1,SPSB4,TFDP2,TRIM42,TRPC1,U2SURP,XRN1,ZBTB38 chr3 140114719 140114819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 140137501 140152000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CLSTN2 chr3 140145000 140148000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 140145755 140148491 Deletion Blepharophimosis syndrome FISH,MLPA,microsatellite and SNP analysis 18726931 CLSTN2 chr3 140145755 140148491 Deletion Blepharophimosis syndrome sequencing 18642388 CLSTN2 chr3 140145755 140148491 Deletion Disorders of sex development - 22290220 CLSTN2 chr3 140145755 140148491 Deletion Non-syndromic sensorineural hearing loss PCR 19491894 CLSTN2 chr3 140147124 140148254 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 140147124 140148254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 140147132 140148262 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN2 chr3 140148000 140155000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 140148775 140155520 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 140148775 140155520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 140148775 140155520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 140172745 140172792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 1 401850 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHL1 chr3 140205000 140207000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 140207000 140207800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 140218912 140219012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 140220000 140222000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 140221396 140222193 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 140221396 140222193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 140221425 140222195 Gain and loss Pancreatic cancer SNP array 17952125 CLSTN2 chr3 140228266 140228357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLSTN2 chr3 140243000 140246000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLSTN2 chr3 140245364 140246152 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLSTN2 chr3 140245364 140246152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLSTN2 chr3 140250000 140970000 Duplication Schizophrenia BAC array CGH 17989066 ACPL2,CLSTN2,SLC25A36,SPSB4,TRIM42 chr3 140288501 142666700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACPL2,ATP1B3,ATR,GK5,GRK7,LOC100507389,PCOLCE2,PLS1,RASA2,RNF7,SLC25A36,SPSB4,TFDP2,TRIM42,TRPC1,XRN1,ZBTB38 chr3 140305725 140326701 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 140305733 140307341 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 140400000 144400000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ACPL2,ATP1B3,ATR,C3orf58,CHST2,GK5,GRK7,LOC100289361,LOC100507389,PAQR9,PCOLCE2,PLS1,RASA2,RNF7,SLC25A36,SLC9A9,SLC9A9-AS1,SPSB4,TFDP2,TRIM42,TRPC1,U2SURP,XRN1,ZBTB38 chr3 140400000 144400000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 ACPL2,ATP1B3,ATR,C3orf58,CHST2,GK5,GRK7,LOC100289361,LOC100507389,PAQR9,PCOLCE2,PLS1,RASA2,RNF7,SLC25A36,SLC9A9,SLC9A9-AS1,SPSB4,TFDP2,TRIM42,TRPC1,U2SURP,XRN1,ZBTB38 chr3 140408078 163995913 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AADAC,AADACL2,ACPL2,AGTR1,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,ATP1B3,ATR,B3GALNT1,C3orf33,C3orf55,C3orf58,C3orf79,C3orf80,CCNL1,CHST2,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,DHX36,EIF2A,FAM194A,GFM1,GK5,GMPS,GPR149,GPR171,GPR87,GRK7,GYG1,HLTF,HLTF-AS1,HPS3,IFT80,IGSF10,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100289361,LOC100498859,LOC100507389,LOC100507537,LOC201651,LOC339894,LOC401093,LOC646903,LOC647107,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR15B,MIR16-2,MIR3919,MIR5186,MIR548H2,MLF1,MME,NMD3,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PCOLCE2,PFN2,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PPM1L,PTX3,RAP2B,RARRES1,RASA2,RNF13,RNF7,RSRC1,SCARNA7,SCHIP1,SELT,SERP1,SHOX2,SIAH2,SLC25A36,SLC33A1,SLC9A9,SLC9A9-AS1,SMC4,SPSB4,SPTSSB,SSR3,SUCNR1,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TRIM42,TRIM59,TRPC1,TSC22D2,U2SURP,VEPH1,WWTR1,WWTR1-AS1,XRN1,ZBTB38,ZIC1,ZIC4 chr3 140452228 140452328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140467585 140467720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140469356 140469399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140475108 142087750 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACPL2,ATP1B3,GK5,GRK7,RASA2,RNF7,SLC25A36,SPSB4,TFDP2,XRN1,ZBTB38 chr3 140486433 140488023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 140508728 140510573 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 140517674 140562831 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 140523220 140557070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 140524270 140524381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140524424 140524597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140524441 140524541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140524652 140529007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 140545000 140558000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 140545551 140558575 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 140545551 140558575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 140545551 140558575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 140545559 140558583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 140548752 140548784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140559000 140591000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 140559125 140591158 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 140559125 140591158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 140559125 140591158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 140559133 140591166 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 140589828 140589896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 140589836 140589904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 140636745 140636880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140646974 140647128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140647146 140647296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140654000 140678000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SLC25A36 chr3 140654417 140678042 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC25A36 chr3 140654417 140678042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A36 chr3 140654417 140678042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A36 chr3 140654425 140678050 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A36 chr3 140663791 140663891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A36 chr3 140695355 140696484 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A36 chr3 140695599 140695911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A36 chr3 140718000 140741000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 140718970 140741180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 140718970 140741180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 140718970 140741180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 140718978 140741188 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 140761000 140879000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SPSB4 chr3 140761717 140879549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPSB4 chr3 140761717 140879549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPSB4 chr3 140761729 140879557 Gain and loss Pancreatic cancer SNP array 17952125 SPSB4 chr3 140761731 140879530 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPSB4 chr3 140769063 140769163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140784460 140785035 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPSB4 chr3 140784460 140785035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPSB4 chr3 140785028 140785172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPSB4 chr3 140785668 140785985 Gain and loss Pancreatic cancer SNP array 17952125 SPSB4 chr3 140785669 140785977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPSB4 chr3 140785746 140785985 Gain and loss Pancreatic cancer SNP array 17952125 SPSB4 chr3 14080678 14081436 Gain and loss Pancreatic cancer SNP array 17952125 TPRXL chr3 140811201 140811470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPSB4 chr3 140811209 140811478 Gain and loss Pancreatic cancer SNP array 17952125 SPSB4 chr3 140845010 140845110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPSB4 chr3 140908559 140908616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 14092101 15559500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf20,CAPN7,CCDC174,CHCHD4,COL6A4P1,COLQ,EAF1,FGD5,FGD5-AS1,GRIP2,LOC100505696,LSM3,METTL6,MIR4270,MRPS25,NR2C2,SH3BP5,SLC6A6,TMEM43,TPRXL,XPC,ZFYVE20 chr3 140937838 140937876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140950057 140950131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 140958302 140958386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACPL2 chr3 140993379 140993461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACPL2 chr3 140998678 140998978 Loss Chordoma References 21215367 ACPL2 chr3 140999131 141013952 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ACPL2 chr3 141005823 142087750 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACPL2,ATP1B3,GK5,GRK7,RASA2,RNF7,TFDP2,XRN1,ZBTB38 chr3 141010000 141230000 Gain Breast cancer aCGH 21509527 ACPL2,RASA2,ZBTB38 chr3 141050398 141050465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB38 chr3 14105605 14106439 Gain and loss Pancreatic cancer SNP array 17952125 TPRXL chr3 141068318 141586760 LOH Normal High-resolution SNP genotyping 21211785 GRK7,RASA2,RNF7,ZBTB38 chr3 14107680 14108653 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 141079972 141080072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB38 chr3 141111495 141111553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBTB38 chr3 141136000 141769000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ATP1B3,GRK7,RASA2,RNF7,TFDP2,ZBTB38 chr3 141136001 141138000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZBTB38 chr3 141136907 141769320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATP1B3,GRK7,RASA2,RNF7,TFDP2,ZBTB38 chr3 141136907 141769320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP1B3,GRK7,RASA2,RNF7,TFDP2,ZBTB38 chr3 141136915 141769328 Gain and loss Pancreatic cancer SNP array 17952125 ATP1B3,GRK7,RASA2,RNF7,TFDP2,ZBTB38 chr3 141206836 141206936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASA2 chr3 141214458 141221542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RASA2 chr3 141263369 141483816 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 RASA2,RNF7 chr3 14128579 14141372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 14128579 14141372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 14128584 14141323 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 141305365 141306365 Gain Chordoma References 21215367 RASA2 chr3 141318516 141318590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RASA2 chr3 14135924 14135997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 14140501 14156500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHCHD4 chr3 141408462 142007428 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ATP1B3,GK5,GRK7,RNF7,TFDP2 chr3 141412115 141413115 Gain Chordoma References 21215367 NOT_FOUND chr3 14141545 14160180 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 CHCHD4 chr3 14141546 14160178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHCHD4 chr3 14141546 14160178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHCHD4 chr3 14141546 14160180 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD4 chr3 141441573 141441744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14144670 14174910 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CHCHD4,TMEM43 chr3 141454241 141454328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 141503206 141515364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GRK7 chr3 14153182 14153857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHCHD4 chr3 14156249 14156348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHCHD4 chr3 14156501 14349000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHCHD4,LSM3,TMEM43,XPC chr3 141585158 142553808 LOH Normal High-resolution SNP genotyping 21211785 ATP1B3,ATR,GK5,PCOLCE2,PLS1,TFDP2,TRPC1,XRN1 chr3 141585158 163995913 Copy number gain Normal High-resolution SNP genotyping 21211785 AADAC,AADACL2,AGTR1,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,ATP1B3,ATR,B3GALNT1,C3orf33,C3orf55,C3orf58,C3orf79,C3orf80,CCNL1,CHST2,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,DHX36,EIF2A,FAM194A,GFM1,GK5,GMPS,GPR149,GPR171,GPR87,GYG1,HLTF,HLTF-AS1,HPS3,IFT80,IGSF10,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100289361,LOC100498859,LOC100507389,LOC100507537,LOC201651,LOC339894,LOC401093,LOC646903,LOC647107,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR15B,MIR16-2,MIR3919,MIR5186,MIR548H2,MLF1,MME,NMD3,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PCOLCE2,PFN2,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PPM1L,PTX3,RAP2B,RARRES1,RNF13,RSRC1,SCARNA7,SCHIP1,SELT,SERP1,SHOX2,SIAH2,SLC33A1,SLC9A9,SLC9A9-AS1,SMC4,SPTSSB,SSR3,SUCNR1,TFDP2,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TRIM59,TRPC1,TSC22D2,U2SURP,VEPH1,WWTR1,WWTR1-AS1,XRN1,ZIC1,ZIC4 chr3 14161648 14195143 Gain or loss Breast cancer - 20668451 CHCHD4,TMEM43,XPC chr3 14161648 14195143 Gain or loss Cancer - 20668451 CHCHD4,TMEM43,XPC chr3 14161648 14195143 Gain or loss Lung cancer - 20668451 CHCHD4,TMEM43,XPC chr3 14161648 14195143 Gain or loss Ovarian cancer - 20668451 CHCHD4,TMEM43,XPC chr3 14161648 14195143 Gain or loss Pancreas cancer - 20668451 CHCHD4,TMEM43,XPC chr3 14161648 14195143 Gain or loss Prostate cancer - 20668451 CHCHD4,TMEM43,XPC chr3 14161651 14195087 Gain and loss Pancreatic cancer SNP array 17952125 CHCHD4,TMEM43,XPC chr3 14161651 14195143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHCHD4,TMEM43,XPC chr3 14161651 14195143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHCHD4,TMEM43,XPC chr3 14161812 14195176 Amplification or deletion Cancer Array CGH 17440070 CHCHD4,TMEM43,XPC chr3 141643303 141644303 Loss Chordoma References 21215367 ATP1B3 chr3 141676485 141676703 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TFDP2 chr3 141691584 141691676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFDP2 chr3 141692155 141692265 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 TFDP2 chr3 14171297 14171374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM43 chr3 14175506 14175606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM43 chr3 141776450 142297377 LOH Normal High-resolution SNP genotyping 21211785 ATR,GK5,TFDP2,XRN1 chr3 141819056 156064812 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 AADAC,AADACL2,AGTR1,ANKUB1,ARHGEF26,ARHGEF26-AS1,ATR,C3orf33,C3orf58,C3orf79,CHST2,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,DHX36,EIF2A,FAM194A,GK5,GMPS,GPR149,GPR171,GPR87,GYG1,HLTF,HLTF-AS1,HPS3,IGSF10,KCNAB1,KCNAB1-AS2,LOC100289361,LOC100507389,LOC100507537,LOC201651,LOC401093,LOC646903,MBNL1,MED12L,MIR5186,MIR548H2,MME,P2RY1,P2RY12,P2RY13,P2RY14,PAQR9,PCOLCE2,PFN2,PLCH1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RAP2B,RNF13,SELT,SERP1,SIAH2,SLC33A1,SLC9A9,SLC9A9-AS1,SUCNR1,TFDP2,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TRPC1,TSC22D2,U2SURP,WWTR1,WWTR1-AS1,XRN1,ZIC1,ZIC4 chr3 141879000 141902000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 GK5 chr3 141879571 141902681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GK5 chr3 141879571 141902681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GK5 chr3 141879579 141902689 Gain and loss Pancreatic cancer SNP array 17952125 GK5 chr3 141917133 141917505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GK5 chr3 141950725 141950825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14195337 14214858 Gain and loss Pancreatic cancer SNP array 17952125 XPC chr3 14195341 14214840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XPC chr3 14195341 14214840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XPC chr3 141961705 142495869 LOH Normal High-resolution SNP genotyping 21211785 ATR,PLS1,TRPC1,XRN1 chr3 141977657 142514475 LOH Normal High-resolution SNP genotyping 21211785 ATR,PLS1,TRPC1,XRN1 chr3 142005180 142006335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 142016289 142519538 LOH Normal High-resolution SNP genotyping 21211785 ATR,PLS1,TRPC1,XRN1 chr3 142016289 142824339 LOH Normal High-resolution SNP genotyping 21211785 ATR,LOC100289361,LOC100507389,PAQR9,PCOLCE2,PLS1,TRPC1,U2SURP,XRN1 chr3 142019659 142062192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 XRN1 chr3 142025301 142031500 Deletion Glioma mate-paired sequence 20126413 XRN1 chr3 142026825 142030557 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 XRN1 chr3 142026825 142030557 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 XRN1 chr3 142027094 142029732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XRN1 chr3 142027117 142029739 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 XRN1 chr3 142084768 142084819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XRN1 chr3 142103734 142104162 Gain and loss Pancreatic cancer SNP array 17952125 XRN1 chr3 142104073 142105041 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 XRN1 chr3 142117203 142640763 LOH Normal High-resolution SNP genotyping 21211785 ATR,PCOLCE2,PLS1,TRPC1,XRN1 chr3 142143000 142181000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ATR,XRN1 chr3 142143386 142178851 Gain and loss Pancreatic cancer SNP array 17952125 ATR,XRN1 chr3 142143419 142178168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATR,XRN1 chr3 14215064 14217624 Gain and loss Pancreatic cancer SNP array 17952125 XPC chr3 14222617 14222688 Gain and loss Pancreatic cancer SNP array 17952125 LSM3 chr3 142243027 142247886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATR chr3 142252944 142350142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATR,PLS1 chr3 142252944 142350142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATR,PLS1 chr3 142253000 142350000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 ATR,PLS1 chr3 142253441 142350150 Gain and loss Pancreatic cancer SNP array 17952125 ATR,PLS1 chr3 142264367 142264524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATR chr3 142354750 142862380 LOH Normal High-resolution SNP genotyping 21211785 CHST2,LOC100289361,LOC100507389,PAQR9,PCOLCE2,PLS1,TRPC1,U2SURP chr3 142384181 142384281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLS1 chr3 142398633 142431189 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLS1 chr3 142431594 142465250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLS1,TRPC1 chr3 142433000 142496000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 TRPC1 chr3 142433372 142496173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC1 chr3 142433372 142496173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC1 chr3 142433397 142496443 Gain and loss Pancreatic cancer SNP array 17952125 TRPC1 chr3 142460031 142460267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPC1 chr3 142460037 142460137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRPC1 chr3 142525000 142651000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LOC100507389,PCOLCE2,TRPC1 chr3 142525745 142651313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507389,PCOLCE2,TRPC1 chr3 142525745 142651313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507389,PCOLCE2,TRPC1 chr3 142540477 143048214 LOH Normal High-resolution SNP genotyping 21211785 CHST2,LOC100289361,LOC100507389,PAQR9,PCOLCE2,SLC9A9,U2SURP chr3 142548077 142548177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCOLCE2 chr3 142643999 142646253 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507389 chr3 142647051 142647838 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100507389 chr3 142648275 142650244 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507389 chr3 142666701 143552200 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHST2,LOC100289361,PAQR9,SLC9A9,SLC9A9-AS1,U2SURP chr3 142688000 142813000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 LOC100289361,U2SURP chr3 142688581 142814311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100289361,U2SURP chr3 142688581 142814311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100289361,U2SURP chr3 142688615 142813887 Gain or loss Breast cancer - 20668451 LOC100289361,U2SURP chr3 142688615 142813887 Gain or loss Cancer - 20668451 LOC100289361,U2SURP chr3 142688615 142813887 Gain or loss Lung cancer - 20668451 LOC100289361,U2SURP chr3 142688615 142813887 Gain or loss Ovarian cancer - 20668451 LOC100289361,U2SURP chr3 142688615 142813887 Gain or loss Pancreas cancer - 20668451 LOC100289361,U2SURP chr3 142688615 142813887 Gain or loss Prostate cancer - 20668451 LOC100289361,U2SURP chr3 142688624 142813895 Gain and loss Pancreatic cancer SNP array 17952125 LOC100289361,U2SURP chr3 142714749 142722747 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LOC100289361,U2SURP chr3 142714749 142821509 Copy number gain Normal High-resolution SNP genotyping 21211785 LOC100289361,U2SURP chr3 142730931 142731031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 U2SURP chr3 142750253 142750348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 U2SURP chr3 142800000 148900000 Amplification head and neck squamous cell carcinoma CGH 17671120 AGTR1,C3orf58,CHST2,CP,CPA3,CPB1,GYG1,HLTF,HLTF-AS1,HPS3,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,SLC9A9,SLC9A9-AS1,ZIC1,ZIC4 chr3 142800000 148900000 Loss Mental retardation Array CGH 17847001 AGTR1,C3orf58,CHST2,CP,CPA3,CPB1,GYG1,HLTF,HLTF-AS1,HPS3,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,SLC9A9,SLC9A9-AS1,ZIC1,ZIC4 chr3 142800000 160700000 Gain Basal cell lymphoma CGH 17170743 AADAC,AADACL2,AGTR1,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,C3orf33,C3orf55,C3orf58,C3orf79,C3orf80,CCNL1,CHST2,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,DHX36,EIF2A,FAM194A,GFM1,GMPS,GPR149,GPR171,GPR87,GYG1,HLTF,HLTF-AS1,HPS3,IFT80,IGSF10,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100498859,LOC100507537,LOC201651,LOC339894,LOC401093,LOC646903,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR15B,MIR16-2,MIR3919,MIR5186,MIR548H2,MLF1,MME,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PFN2,PLCH1,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PPM1L,PTX3,RAP2B,RARRES1,RNF13,RSRC1,SCARNA7,SCHIP1,SELT,SERP1,SHOX2,SIAH2,SLC33A1,SLC9A9,SLC9A9-AS1,SMC4,SSR3,SUCNR1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TRIM59,TSC22D2,VEPH1,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 142815619 142815707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 142831836 142831936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 142845615 142845704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 142939000 142947000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 142939741 142947932 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 142939741 142947933 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 142939741 142947933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 142939741 142947933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 142939749 142947940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 142971919 142972019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 142977184 144378857 LOH Normal High-resolution SNP genotyping 21211785 C3orf58,SLC9A9,SLC9A9-AS1 chr3 142979000 143018000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SLC9A9 chr3 142979723 142980607 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 142979733 143020013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 142979733 143020013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 142979741 143020021 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 142987765 144031265 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 C3orf58,SLC9A9,SLC9A9-AS1 chr3 143008896 143008950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A9 chr3 143025474 143025616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC9A9 chr3 143054840 143055566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC9A9 chr3 143054857 143055580 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SLC9A9 chr3 143054889 143056458 Gain Normal 244K array 17666407 SLC9A9 chr3 143059287 143059319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A9 chr3 143066539 143066811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143066547 143066819 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143078000 143128000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SLC9A9 chr3 143078160 143128072 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 SLC9A9 chr3 143078160 143128072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143078160 143128072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143078168 143128080 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143104456 143104562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143104464 143104570 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143104466 143104570 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143108705 143108829 Gain Normal 244K array 17666407 SLC9A9 chr3 143130018 144049868 LOH Normal High-resolution SNP genotyping 21211785 C3orf58,SLC9A9 chr3 143145000 143351000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SLC9A9 chr3 143153042 143303289 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143154014 143350992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143166653 143168531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC9A9 chr3 143179267 143204805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143183937 143184062 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143183960 143184062 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143194694 143194858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A9 chr3 143211568 143612534 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC9A9 chr3 143242427 143243427 Gain Chordoma References 21215367 SLC9A9 chr3 143247912 143247987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A9 chr3 143252421 143252521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A9 chr3 143256435 143256926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143256443 143256934 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143294102 143853688 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-394K arrays 21546498 C3orf58,SLC9A9 chr3 143297555 143352307 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC9A9 chr3 143303623 143569349 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 SLC9A9 chr3 143305311 143566711 Gain Autism Exome sequencing and CGH 22495309 SLC9A9 chr3 143307337 143545969 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 SLC9A9 chr3 143332439 143335177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC9A9 chr3 143346986 143347087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143346994 143347095 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143358505 143361587 Duplication small cell lung cancer array-CGH 20016488 SLC9A9 chr3 143359000 143427000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SLC9A9 chr3 143359059 143427118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143359059 143427118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143365112 143427107 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143374575 143374675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9A9 chr3 143381 143481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 143382263 143383263 Gain Chordoma References 21215367 SLC9A9 chr3 143481355 144049868 LOH Normal High-resolution SNP genotyping 21211785 C3orf58,SLC9A9 chr3 14349001 14620000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRIP2,SLC6A6 chr3 143490887 144049868 LOH Normal High-resolution SNP genotyping 21211785 C3orf58,SLC9A9 chr3 14350767 14380358 Copy number Autism exome sequencing 22495311 NOT_FOUND chr3 143508000 143649000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SLC9A9 chr3 143508139 143649543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143508139 143649543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9A9 chr3 143508151 143649551 Gain and loss Pancreatic cancer SNP array 17952125 SLC9A9 chr3 143510832 144082376 LOH Normal High-resolution SNP genotyping 21211785 C3orf58,SLC9A9 chr3 1 43600000 Gain Glioblastoma multiforme aCGH 21080181 ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR4,CCR8,CHCHD4,CHL1,CIDEC,CIDECP,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KRBOX1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,METTL6,MIR128-2,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZFYVE20,ZNF385D,ZNF619,ZNF620,ZNF621,ZNF662,ZNF860 chr3 143601130 143601205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 143601830 144453969 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf58 chr3 143609203 143609310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143620000 144370000 Gain Breast cancer aCGH 21509527 C3orf58 chr3 143621737 143621901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 143621745 143621903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143621745 143621906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143632931 143633931 Gain Chordoma References 21215367 NOT_FOUND chr3 143644036 143644136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 143650000 143780000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 C3orf58 chr3 143650770 143780358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf58 chr3 143650770 143780358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf58 chr3 143650781 143780349 Gain and loss Pancreatic cancer SNP array 17952125 C3orf58 chr3 1436567 1436667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN6 chr3 143770503 143770603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 143793222 143793332 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143793242 143793331 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143797000 143915000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 143825034 143915191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 143825034 143915191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 143825042 143915199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143867349 143867439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 143867357 143867447 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143875129 143875436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 143875139 143875455 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143875142 143875382 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 143899215 143899304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 143925000 144009000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 143925956 144009415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 143925956 144009415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 143925964 144009428 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 14394310 14394399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 143995402 156589223 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 AADAC,AADACL2,AGTR1,ANKUB1,ARHGEF26,ARHGEF26-AS1,C3orf33,C3orf79,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,DHX36,EIF2A,FAM194A,GMPS,GPR149,GPR171,GPR87,GYG1,HLTF,HLTF-AS1,HPS3,IGSF10,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LEKR1,LOC100507537,LOC201651,LOC401093,LOC646903,LOC730091,MBNL1,MED12L,MIR5186,MIR548H2,MME,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PFN2,PLCH1,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RAP2B,RNF13,SELT,SERP1,SIAH2,SLC33A1,SSR3,SUCNR1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TSC22D2,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 144002748 144002808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 144005908 144007899 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 144019000 144090000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 144019407 144090731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144019407 144090731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144019415 144090739 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 144026869 144026969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 144028675 144029270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 144093058 144095451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 14411152 14411261 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 14411152 14411261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 14411152 14411263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 144131844 144158450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 144162000 144164000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 144163735 144164868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144163743 144164876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 144165708 144165808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14419110 14505859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC6A6 chr3 14419110 14505859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC6A6 chr3 14419150 14503602 Gain and loss Pancreatic cancer SNP array 17952125 SLC6A6 chr3 144202928 144445630 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 144203000 144262000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 144203062 144262257 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 144203062 144262257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144203062 144262257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144203162 144259192 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 14424165 14424259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 144320501 144324000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 144320863 144324500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144320863 144324500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144320871 144324508 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 144321000 144324000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 144336501 145146100 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 144377817 144379997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144377875 144379159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 144400000 150400000 Deletion Autism from references 18923514 AGTR1,ANKUB1,COMMD2,CP,CPA3,CPB1,EIF2A,FAM194A,GYG1,HLTF,HLTF-AS1,HPS3,LOC646903,PFN2,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RNF13,SELT,SERP1,TM4SF1,TM4SF18,TM4SF4,TSC22D2,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 144400000 150400000 Deletion Autism high-density microarrays 22241247 AGTR1,ANKUB1,COMMD2,CP,CPA3,CPB1,EIF2A,FAM194A,GYG1,HLTF,HLTF-AS1,HPS3,LOC646903,PFN2,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RNF13,SELT,SERP1,TM4SF1,TM4SF18,TM4SF4,TSC22D2,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 144400000 150400000 Deletion Normal - 21701786 AGTR1,ANKUB1,COMMD2,CP,CPA3,CPB1,EIF2A,FAM194A,GYG1,HLTF,HLTF-AS1,HPS3,LOC646903,PFN2,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RNF13,SELT,SERP1,TM4SF1,TM4SF18,TM4SF4,TSC22D2,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 144400000 150400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGTR1,ANKUB1,COMMD2,CP,CPA3,CPB1,EIF2A,FAM194A,GYG1,HLTF,HLTF-AS1,HPS3,LOC646903,PFN2,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RNF13,SELT,SERP1,TM4SF1,TM4SF18,TM4SF4,TSC22D2,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 144400000 150400000 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 AGTR1,ANKUB1,COMMD2,CP,CPA3,CPB1,EIF2A,FAM194A,GYG1,HLTF,HLTF-AS1,HPS3,LOC646903,PFN2,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RNF13,SELT,SERP1,TM4SF1,TM4SF18,TM4SF4,TSC22D2,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 144400000 150400000 Inherited homozygous deletion or duplication Autism References 21956041 AGTR1,ANKUB1,COMMD2,CP,CPA3,CPB1,EIF2A,FAM194A,GYG1,HLTF,HLTF-AS1,HPS3,LOC646903,PFN2,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RNF13,SELT,SERP1,TM4SF1,TM4SF18,TM4SF4,TSC22D2,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 144400000 153500000 Amplification Ovarian clear cell carcinoma FISH 19293255 AADAC,AADACL2,AGTR1,ANKUB1,C3orf79,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,EIF2A,FAM194A,GPR171,GPR87,GYG1,HLTF,HLTF-AS1,HPS3,IGSF10,LOC201651,LOC401093,LOC646903,MBNL1,MED12L,MIR5186,MIR548H2,P2RY1,P2RY12,P2RY13,P2RY14,PFN2,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,RAP2B,RNF13,SELT,SERP1,SIAH2,SUCNR1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TSC22D2,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 144400000 199501827 Gain Breast cancer Array CGH 16608533 AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AGTR1,AHSG,ALG3,ANKRD18DP,ANKUB1,AP2M1,APOD,ARHGEF26,ARHGEF26-AS1,ARL14,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,C3orf33,C3orf43,C3orf55,C3orf65,C3orf70,C3orf79,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,CPN2,CRYGS,DCUN1D1,DGKG,DHX36,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM194A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GFM1,GHSR,GMNC,GMPS,GNB4,GOLIM4,GP5,GPR149,GPR160,GPR171,GPR87,GYG1,HES1,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IQCG,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100498859,LOC100505687,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR4797,MIR5186,MIR548H2,MIR551B,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MLF1,MME,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PLCH1,PLD1,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,POLR2H,PPM1L,PPP1R2,PRKCI,PSMD2,PTX3,PYDC2,RAP2B,RARRES1,RFC4,RNF13,RNF168,RPL22L1,RPL35A,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SELT,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC2A2,SLC33A1,SLC51A,SLC7A14,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SSR3,SST,ST6GAL1,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMEM14E,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM59,TSC22D2,TTC14,UBXN7,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WWTR1,WWTR1-AS1,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZIC1,ZIC4,ZMAT3,ZNF639 chr3 144405367 144972437 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 144466000 145050000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 144466755 145049979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144466755 145049979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 144466762 145049986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 144475395 144768677 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 144477589 144478589 Gain Chordoma References 21215367 NOT_FOUND chr3 144533104 144534104 Loss Chordoma References 21215367 NOT_FOUND chr3 144566382 144566482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 144573367 144573467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 144657749 144657849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 144673996 144678160 Gain Normal 244K array 17666407 NOT_FOUND chr3 144678165 145032329 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 144687867 144688118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 144687872 144688017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1 44700000 Gain Glioblastoma multiforme aCGH 21080181 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR4,CCR8,CHCHD4,CHL1,CIDEC,CIDECP,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KRBOX1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 1 44700000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR4,CCR8,CHCHD4,CHL1,CIDEC,CIDECP,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KRBOX1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 144702277 144703906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 144702362 144703954 Loss Normal 244K array 17666407 NOT_FOUND chr3 144724458 144724533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 144726795 144893770 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 144821820 144821920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14484090 14484190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A6 chr3 14484365 14518236 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC6A6 chr3 14484427 14484502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A6 chr3 144850713 160700000 Gain Myofibroblastic sarcoma CGH 19369631 AADAC,AADACL2,AGTR1,ANKUB1,ARHGEF26,ARHGEF26-AS1,ARL14,C3orf33,C3orf55,C3orf79,C3orf80,CCNL1,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,DHX36,EIF2A,FAM194A,GFM1,GMPS,GPR149,GPR171,GPR87,GYG1,HLTF,HLTF-AS1,HPS3,IFT80,IGSF10,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100498859,LOC100507537,LOC201651,LOC339894,LOC401093,LOC646903,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR15B,MIR16-2,MIR3919,MIR5186,MIR548H2,MLF1,MME,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PFN2,PLCH1,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PPM1L,PTX3,RAP2B,RARRES1,RNF13,RSRC1,SCARNA7,SCHIP1,SELT,SERP1,SHOX2,SIAH2,SLC33A1,SMC4,SSR3,SUCNR1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TRIM59,TSC22D2,VEPH1,WWTR1,WWTR1-AS1,ZIC1,ZIC4 chr3 14485453 14517280 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC6A6 chr3 144865567 144866567 Gain Chordoma References 21215367 NOT_FOUND chr3 144865662 144866662 Gain Chordoma References 21215367 NOT_FOUND chr3 144899164 144899247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14489935 14490030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A6 chr3 144929764 144963938 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 144972961 145596928 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 145032329 148209319 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,ZIC1,ZIC4 chr3 14505623 14556840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIP2,SLC6A6 chr3 14505623 14556840 Gain and loss Pancreatic cancer SNP array 17952125 GRIP2,SLC6A6 chr3 14505623 14556840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIP2,SLC6A6 chr3 145057279 145057680 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 145091207 145091388 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 145106725 145107042 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 145150631 145150726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 145162615 146161752 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PLOD2,PLSCR2,PLSCR4 chr3 14516511 14516611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC6A6 chr3 145166858 145166958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 145173000 145193000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 145173603 145193893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 145173603 145193893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 145173611 145193901 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 145187343 199379595 Gain Oral cancer 105K CGH oligonucleotide array 21386901 AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AGTR1,AHSG,ALG3,ANKRD18DP,ANKUB1,AP2M1,APOD,ARHGEF26,ARHGEF26-AS1,ARL14,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,C3orf33,C3orf43,C3orf55,C3orf65,C3orf70,C3orf79,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,CPN2,CRYGS,DCUN1D1,DGKG,DHX36,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM194A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GFM1,GHSR,GMNC,GMPS,GNB4,GOLIM4,GP5,GPR149,GPR160,GPR171,GPR87,GYG1,HES1,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IQCG,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100498859,LOC100505687,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR4797,MIR5186,MIR548H2,MIR551B,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MLF1,MME,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PLCH1,PLD1,PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5,POLR2H,PPM1L,PPP1R2,PRKCI,PSMD2,PTX3,PYDC2,RAP2B,RARRES1,RFC4,RNF13,RNF168,RPL22L1,RPL35A,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SELT,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC2A2,SLC33A1,SLC51A,SLC7A14,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SSR3,SST,ST6GAL1,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMEM14E,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM59,TSC22D2,TTC14,UBXN7,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WWTR1,WWTR1-AS1,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZIC1,ZIC4,ZMAT3,ZNF639 chr3 145244357 145244517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 145330000 146370000 Gain Breast cancer aCGH 21509527 PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5 chr3 145388436 145388552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 145388437 145388552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 145388444 145388560 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 145419572 145419775 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 145439120 145710806 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 14547493 14547599 Gain and loss Pancreatic cancer SNP array 17952125 GRIP2 chr3 14547493 14547599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIP2 chr3 145496742 145531744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 1 45580395 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR4,CCR8,CDCP1,CHCHD4,CHL1,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 145591496 145591605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 145643758 145647384 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 145645536 145645727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 145695492 145695592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 145718900 145874085 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 PLOD2 chr3 145764215 145775273 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 145765733 145770405 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 145791703 145791792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLOD2 chr3 145806762 145822740 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLOD2 chr3 145806762 145823293 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLOD2 chr3 145807029 145822997 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLOD2 chr3 145839833 145839957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLOD2 chr3 14589567 14590577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 145948726 145948789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLSCR4 chr3 145956320 145956420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLSCR4 chr3 145998801 146003100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 146000561 146001136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 146000561 146001138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 146056228 146056328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146070080 146070156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146081923 146098049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 146084671 146098155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 146095232 146095332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146098486 146098586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146125496 147010909 LOH Normal High-resolution SNP genotyping 21211785 PLSCR1,PLSCR2,PLSCR5 chr3 146175801 146175926 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PLSCR2 chr3 146199685 147880050 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-427K arrays 21546498 PLSCR1,PLSCR2,PLSCR5,ZIC1,ZIC4 chr3 14621065 14629570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 146233185 146233687 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PLSCR1 chr3 146255117 146255217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLSCR1 chr3 146296830 146296930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146310828 146358644 Gain Normal Birdsuite, version 1.5.2 22087296 PLSCR5 chr3 146330830 146330995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146371140 146371600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 146371193 146371693 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 146450063 146480952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 146452517 146475956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 146452940 146478559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 146466395 146475262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 146468325 146482519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 146470207 146476112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 1 46513000 Copy numberLOH Colorectal cancer 50 K SNP array 21297112 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDCP1,CHCHD4,CHL1,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LTF,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 146526996 148209319 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ZIC1,ZIC4 chr3 146537439 146537539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146538210 146538310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14655274 14885324 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf20,CCDC174,FGD5 chr3 14655274 15278848 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf20,CAPN7,CCDC174,COL6A4P1,FGD5,FGD5-AS1,MRPS25,NR2C2,ZFYVE20 chr3 146628272 146628372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146637952 146638252 Loss Chordoma References 21215367 NOT_FOUND chr3 14668257 14689155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 14668257 14689155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 14668273 14689167 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 146726835 146726935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146734291 146735291 Gain Chordoma References 21215367 NOT_FOUND chr3 146735572 146736572 Gain Chordoma References 21215367 NOT_FOUND chr3 146736430 146737430 Loss Chordoma References 21215367 NOT_FOUND chr3 146819335 146819435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14691658 14789542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf20,CCDC174 chr3 14691658 14789542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf20,CCDC174 chr3 14691658 14789544 Gain and loss Pancreatic cancer SNP array 17952125 C3orf20,CCDC174 chr3 146918332 146918421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 146961901 146962406 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 14698790 14699241 Gain Normal 244K array 17666407 CCDC174 chr3 146989081 147150531 Loss Normal 244K array 17666407 ZIC1,ZIC4 chr3 14700000 23800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD28,BTD,C3orf20,CAPN7,CCDC174,COL6A4P1,COLQ,DAZL,DPH3,EAF1,EFHB,FGD5,FGD5-AS1,GALNTL2,HACL1,KAT2B,KCNH8,LOC100505696,LOC339862,METTL6,MIR3714,MIR4270,MIR4791,MIR548AC,MIR563,MRPS25,NR2C2,OXNAD1,PLCL2,PP2D1,RAB5A,RFTN1,SATB1,SGOL1,SGOL1-AS1,SH3BP5,TBC1D5,UBE2E2,VENTXP7,ZFYVE20,ZNF385D chr3 14700000 23800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD28,BTD,C3orf20,CAPN7,CCDC174,COL6A4P1,COLQ,DAZL,DPH3,EAF1,EFHB,FGD5,FGD5-AS1,GALNTL2,HACL1,KAT2B,KCNH8,LOC100505696,LOC339862,METTL6,MIR3714,MIR4270,MIR4791,MIR548AC,MIR563,MRPS25,NR2C2,OXNAD1,PLCL2,PP2D1,RAB5A,RFTN1,SATB1,SGOL1,SGOL1-AS1,SH3BP5,TBC1D5,UBE2E2,VENTXP7,ZFYVE20,ZNF385D chr3 14700000 23800000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ANKRD28,BTD,C3orf20,CAPN7,CCDC174,COL6A4P1,COLQ,DAZL,DPH3,EAF1,EFHB,FGD5,FGD5-AS1,GALNTL2,HACL1,KAT2B,KCNH8,LOC100505696,LOC339862,METTL6,MIR3714,MIR4270,MIR4791,MIR548AC,MIR563,MRPS25,NR2C2,OXNAD1,PLCL2,PP2D1,RAB5A,RFTN1,SATB1,SGOL1,SGOL1-AS1,SH3BP5,TBC1D5,UBE2E2,VENTXP7,ZFYVE20,ZNF385D chr3 14700000 30800000 Copy number Squamous cell cancer aCGH 20885788 ANKRD28,AZI2,BTD,C3orf20,CAPN7,CCDC174,CMC1,COL6A4P1,COLQ,DAZL,DPH3,EAF1,EFHB,EOMES,FGD5,FGD5-AS1,GADL1,GALNTL2,HACL1,KAT2B,KCNH8,LOC100505696,LOC152024,LOC285326,LOC339862,LOC644990,LOC645206,LRRC3B,METTL6,MIR3714,MIR4270,MIR4442,MIR4791,MIR4792,MIR548AC,MIR563,MRPS25,NEK10,NGLY1,NKIRAS1,NR1D2,NR2C2,OXNAD1,OXSM,PLCL2,PP2D1,RAB5A,RARB,RBMS3,RFTN1,RPL15,SATB1,SGOL1,SGOL1-AS1,SH3BP5,SLC4A7,TBC1D5,TGFBR2,THRB,TOP2B,UBE2E1,UBE2E2,VENTXP7,ZCWPW2,ZFYVE20,ZNF385D chr3 14700000 43600000 Loss Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARPP21,AZI2,BTD,C3orf20,C3orf35,CAPN7,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR4,CCR8,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL6A4P1,COLQ,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EFHB,EIF1B,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,FAM198A,FBXL2,FGD5,FGD5-AS1,FLJ33065,GADL1,GALNTL2,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HACL1,HHATL,HIGD1A,ITGA9,KAT2B,KBTBD5,KCNH8,KRBOX1,LOC100505696,LOC152024,LOC285326,LOC339862,LOC644990,LOC645206,LRRC3B,LRRFIP2,LYZL4,METTL6,MIR128-2,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4791,MIR4792,MIR548AC,MIR563,MLH1,MOBP,MRPS25,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,PDCD6IP,PLCD1,PLCL2,PP2D1,RAB5A,RARB,RBMS3,RFTN1,RPL14,RPL15,RPSA,SATB1,SCN10A,SCN11A,SCN5A,SEC22C,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,STT3B,SUSD5,TBC1D5,TGFBR2,THRB,TMPPE,TOP2B,TRAK1,TRANK1,TRIM71,TTC21A,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZCWPW2,ZFYVE20,ZNF385D,ZNF619,ZNF620,ZNF621,ZNF662,ZNF860 chr3 147083061 147083161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147097764 147097850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147115998 147116098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZIC4 chr3 147126316 147126416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147127659 147131876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZIC1 chr3 14715028 14715128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147156093 147156177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147175947 147362887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 147183527 147183572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147185648 147185748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147197958 147198048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147265048 147266846 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 147265048 147266846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147265056 147266854 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 147267329 199322068 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AGTR1,AHSG,ALG3,ANKRD18DP,ANKUB1,AP2M1,APOD,ARHGEF26,ARHGEF26-AS1,ARL14,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,C3orf33,C3orf43,C3orf55,C3orf65,C3orf70,C3orf79,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,CPN2,CRYGS,DCUN1D1,DGKG,DHX36,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM194A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GFM1,GHSR,GMNC,GMPS,GNB4,GOLIM4,GP5,GPR149,GPR160,GPR171,GPR87,GYG1,HES1,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IQCG,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100498859,LOC100505687,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR4797,MIR5186,MIR548H2,MIR551B,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MLF1,MME,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PLCH1,PLD1,POLR2H,PPM1L,PPP1R2,PRKCI,PSMD2,PTX3,PYDC2,RAP2B,RARRES1,RFC4,RNF13,RNF168,RPL22L1,RPL35A,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SELT,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC2A2,SLC33A1,SLC51A,SLC7A14,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SSR3,SST,ST6GAL1,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMEM14E,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM59,TSC22D2,TTC14,UBXN7,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WWTR1,WWTR1-AS1,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZMAT3,ZNF639 chr3 147269000 147361000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 147269922 147361972 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 147269922 147361972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147269922 147361972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147269928 147361642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 147277142 147277217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147328338 147328438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147392000 147451000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 147392882 147451656 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 147392882 147451656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147392882 147451656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147392890 147451664 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 147414589 147414900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 147455447 147455510 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 147490441 147490541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147531173 147649939 Gain Autism Exome sequencing and CGH 22495309 NOT_FOUND chr3 14760491 14760581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf20 chr3 147607840 147607940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147633000 147696000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 147633772 147696412 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 147633772 147696412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147633772 147696412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147633780 147696476 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 147642684 159779801 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AADAC,AADACL2,AGTR1,ANKUB1,ARHGEF26,ARHGEF26-AS1,C3orf33,C3orf55,C3orf79,CCNL1,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,DHX36,EIF2A,FAM194A,GFM1,GMPS,GPR149,GPR171,GPR87,GYG1,HLTF,HLTF-AS1,HPS3,IGSF10,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LEKR1,LOC100498859,LOC100507537,LOC201651,LOC339894,LOC401093,LOC646903,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR3919,MIR5186,MIR548H2,MLF1,MME,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PFN2,PLCH1,PTX3,RAP2B,RARRES1,RNF13,RSRC1,SCHIP1,SELT,SERP1,SHOX2,SIAH2,SLC33A1,SSR3,SUCNR1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TSC22D2,VEPH1,WWTR1,WWTR1-AS1 chr3 147715000 147745000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 147715658 147745186 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 147715658 147745186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147715658 147745186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147715666 147745194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 14773501 14940500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf20,FGD5 chr3 147770600 147770700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147771954 147772060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 147771962 147772054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 147771962 147772076 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 147786000 147806000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 147850852 147884556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 147852641 147877601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 147864636 147879180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 147866401 147874500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 147867879 147873031 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 147867879 147877549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 147877590 148299630 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr3 147893249 147893349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147910168 147910973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 147931342 147931423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147940866 147940966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147961342 147961414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 147989731 148192104 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr3 14799638 14799714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf20 chr3 148059512 148059612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 148085373 148085448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 148103000 199318000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AGTR1,AHSG,ALG3,ANKRD18DP,ANKUB1,AP2M1,APOD,ARHGEF26,ARHGEF26-AS1,ARL14,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,C3orf33,C3orf43,C3orf55,C3orf65,C3orf70,C3orf79,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CLRN1,CLRN1-AS1,COMMD2,CP,CPA3,CPB1,CPN2,CRYGS,DCUN1D1,DGKG,DHX36,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM194A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GFM1,GHSR,GMNC,GMPS,GNB4,GOLIM4,GP5,GPR149,GPR160,GPR171,GPR87,GYG1,HES1,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IQCG,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100498859,LOC100505687,LOC100507391,LOC100507537,LOC152217,LOC201651,LOC220729,LOC253573,LOC339894,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR4797,MIR5186,MIR548H2,MIR551B,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MLF1,MME,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PFN2,PHC3,PIGX,PIGZ,PIK3CA,PLCH1,PLD1,POLR2H,PPM1L,PPP1R2,PRKCI,PSMD2,PTX3,PYDC2,RAP2B,RARRES1,RFC4,RNF13,RNF168,RPL22L1,RPL35A,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SELT,SENP2,SENP5,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC2A2,SLC33A1,SLC51A,SLC7A14,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SSR3,SST,ST6GAL1,SUCNR1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMEM14E,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM59,TSC22D2,TTC14,UBXN7,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,WWTR1,WWTR1-AS1,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZMAT3,ZNF639 chr3 148104334 148104634 Loss Chordoma References 21215367 NOT_FOUND chr3 148197084 148197190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 148197092 148197198 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 148211645 148211734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 148221230 148221315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1482705 1482805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 148299694 149258285 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-389K arrays 21546498 AGTR1,CP,CPA3,CPB1,GYG1,HLTF,HLTF-AS1,HPS3,TM4SF1,TM4SF18,TM4SF4,WWTR1 chr3 14835583 14950899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGD5 chr3 14835583 14950899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGD5 chr3 14835810 14950899 Gain and loss Pancreatic cancer SNP array 17952125 FGD5 chr3 14843621 14843771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 148447575 148447675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGTR1 chr3 148477245 148477729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 1485078 1485146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 148542061 148576112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CPB1 chr3 148586000 148607000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CPA3 chr3 148586527 148607097 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPA3 chr3 148586527 148607097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPA3 chr3 148586527 148607097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPA3 chr3 148591001 148622500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CPA3 chr3 148591418 148606618 Gain and loss Pancreatic cancer SNP array 17952125 CPA3 chr3 148605861 148605861 Copy number Prostate cancer Illumina GA II sequencer 21307934 CPA3 chr3 148609000 148617000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CPA3 chr3 148609871 148617196 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPA3 chr3 148609871 148617196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPA3 chr3 148609871 148617196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPA3 chr3 148609879 148615046 Gain and loss Pancreatic cancer SNP array 17952125 CPA3 chr3 14869102 14869192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD5 chr3 148784027 149431944 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-428K arrays 21546498 CP,HLTF,HLTF-AS1,HPS3,TM4SF1,TM4SF18,TM4SF4,WWTR1,WWTR1-AS1 chr3 148833188 148833249 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 14886274 15137707 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FGD5,FGD5-AS1,MRPS25,NR2C2,ZFYVE20 chr3 148896009 148910289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CP chr3 148900000 152100000 Deletion Lung cancer Relied on a multipoint score function 16773561 AADAC,AADACL2,ANKUB1,CLRN1,CLRN1-AS1,COMMD2,CP,EIF2A,FAM194A,GPR171,GPR87,IGSF10,LOC201651,LOC401093,LOC646903,MBNL1,MED12L,MIR5186,MIR548H2,P2RY12,P2RY13,P2RY14,PFN2,RNF13,SELT,SERP1,SIAH2,SUCNR1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TSC22D2,WWTR1,WWTR1-AS1 chr3 148900000 187900000 Gain Non-small cell lung cancer FISH 19010865 AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKUB1,AP2M1,ARHGEF26,ARHGEF26-AS1,ARL14,ATP11B,B3GALNT1,B3GNT5,BCHE,BCL6,C3orf33,C3orf55,C3orf65,C3orf70,C3orf79,C3orf80,CAMK2N2,CCDC39,CCNL1,CHRD,CLCN2,CLDN11,CLRN1,CLRN1-AS1,COMMD2,CP,CRYGS,DCUN1D1,DGKG,DHX36,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM194A,FETUB,FLJ42393,FLJ46066,FNDC3B,FXR1,GFM1,GHSR,GMPS,GNB4,GOLIM4,GPR149,GPR160,GPR171,GPR87,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IGSF10,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEKR1,LINC00578,LIPH,LOC100128164,LOC100131635,LOC100498859,LOC100505687,LOC100507537,LOC201651,LOC253573,LOC339894,LOC344887,LOC401093,LOC646168,LOC646903,LOC647107,LOC730091,LPP,LPP-AS2,LRRC31,LRRC34,LRRIQ4,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFN1,MFSD1,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR5186,MIR548H2,MIR551B,MIR569,MLF1,MME,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,NMD3,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PARL,PDCD10,PEX5L,PFN2,PHC3,PIK3CA,PLCH1,PLD1,POLR2H,PPM1L,PRKCI,PSMD2,PTX3,RAP2B,RARRES1,RFC4,RNF13,RPL22L1,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SEC62,SELT,SENP2,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC2A2,SLC33A1,SLC7A14,SLITRK3,SMC4,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SSR3,SST,ST6GAL1,SUCNR1,TBCCD1,TBL1XR1,TERC,THPO,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMEM14E,TMEM212,TMEM41A,TNFSF10,TNIK,TRA2B,TRIM59,TSC22D2,TTC14,USP13,VEPH1,VPS8,VWA5B2,WDR49,WWTR1,WWTR1-AS1,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 148919712 149671328 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKUB1,COMMD2,CP,RNF13,TM4SF1,TM4SF18,TM4SF4,WWTR1,WWTR1-AS1 chr3 148991221 148991321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 149061213 149061313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 149087043 149088043 Loss Chordoma References 21215367 TM4SF1 chr3 149088054 149088354 Gain Chordoma References 21215367 TM4SF1 chr3 149089354 149089930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TM4SF1 chr3 149100889 149100989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 149109875 149110792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 149111323 149111636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 149111883 149111978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 149142240 149142390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14914502 14914502 Copy number Prostate cancer Illumina GA II sequencer 21307934 FGD5 chr3 149161908 149166802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 149185740 149218030 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TM4SF4 chr3 14921379 14921411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD5 chr3 149258827 149258927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWTR1 chr3 14927766 17889758 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD28,BTD,CAPN7,COL6A4P1,COLQ,DAZL,DPH3,EAF1,FGD5,FGD5-AS1,GALNTL2,HACL1,LOC100505696,METTL6,MIR3714,MIR4270,MIR563,MRPS25,NR2C2,OXNAD1,PLCL2,RFTN1,SH3BP5,TBC1D5,ZFYVE20 chr3 149281310 149281399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWTR1 chr3 14933085 14933160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD5 chr3 14933153 14933253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD5 chr3 1493502 1493602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 149351949 149365004 Loss Normal 244K array 17666407 WWTR1 chr3 149356495 149356555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWTR1 chr3 149366816 149367773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WWTR1 chr3 149366816 149367773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWTR1 chr3 149366824 149367781 Gain and loss Pancreatic cancer SNP array 17952125 WWTR1 chr3 149482162 149482197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKUB1 chr3 149493638 149493738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKUB1 chr3 149506164 150011437 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ANKUB1,LOC646903,PFN2,RNF13 chr3 14955537 14955637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGD5 chr3 149565568 149609643 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 RNF13 chr3 149598961 149784837 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC646903,PFN2,RNF13 chr3 14960000 16150000 Loss Acute lymphoblastic leukemia - 21339820 ANKRD28,BTD,CAPN7,COL6A4P1,COLQ,EAF1,FGD5,FGD5-AS1,HACL1,LOC100505696,METTL6,MIR4270,MIR563,MRPS25,NR2C2,SH3BP5,ZFYVE20 chr3 149640601 150045000 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC646903,PFN2,RNF13 chr3 149640601 150089415 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC646903,PFN2,RNF13 chr3 14964095 15065784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGD5,FGD5-AS1,NR2C2 chr3 14964095 15065784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGD5,FGD5-AS1,NR2C2 chr3 149679396 149684085 Gain and loss Pancreatic cancer SNP array 17952125 PFN2,RNF13 chr3 149689167 149689484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC646903 chr3 149705576 149706555 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 149734430 149958528 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-421K arrays 21546498 NOT_FOUND chr3 149736385 149774492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 149760366 149762851 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 149762401 149769900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 149764123 149768107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 149764125 149768109 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 149766092 149767909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 149776092 150158348 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 TSC22D2 chr3 149780964 149781064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 149843378 149843438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 149864806 149895569 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 149871152 149960984 Gain Stenocardia MACArray Karyo 18K BAC-chips 21860640 NOT_FOUND chr3 149871152 149960984 Gain Vasospasm MACArray Karyo 18K BAC-chips 21860640 NOT_FOUND chr3 149875477 149875577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 14987668 14988358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGD5-AS1 chr3 149898000 149943000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 149898348 149943478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 149898348 149943478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 149898355 149943478 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 149898363 149943486 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 149902501 151597600 Copy number Normal ReadDepth: A Parallel R Package 21305028 AADAC,AADACL2,CLRN1,CLRN1-AS1,EIF2A,FAM194A,GPR171,GPR87,IGSF10,LOC201651,MED12L,MIR5186,MIR548H2,P2RY12,P2RY13,P2RY14,SELT,SERP1,SIAH2,SUCNR1,TSC22D2 chr3 14994108 14994208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR2C2 chr3 149954522 149954622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 150022346 150023346 Gain Chordoma References 21215367 NOT_FOUND chr3 150022492 150023492 Gain Chordoma References 21215367 NOT_FOUND chr3 150028000 150060000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 150028131 150060633 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 150028131 150060633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150028131 150060633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150028305 150060668 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 150049483 150049800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 150058755 155809464 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-429K arrays 21546498 AADAC,AADACL2,ARHGEF26,ARHGEF26-AS1,C3orf33,C3orf79,CLRN1,CLRN1-AS1,DHX36,EIF2A,FAM194A,GMPS,GPR149,GPR171,GPR87,IGSF10,LOC100507537,LOC201651,LOC401093,MBNL1,MED12L,MIR5186,MIR548H2,MME,P2RY1,P2RY12,P2RY13,P2RY14,PLCH1,RAP2B,SELT,SERP1,SIAH2,SLC33A1,SUCNR1,TMEM14E,TSC22D2 chr3 150065000 150097000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 150065771 150097558 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 150065771 150097558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150065771 150097558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150065779 150097566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 150093451 150093512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 150096040 150096140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 150186338 150188143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150186338 150188143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150186346 150188115 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 150191000 150228000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 150191929 150228081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 150191929 150228081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150191929 150228081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150192037 150228117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 15020426 15059854 Gain and loss Pancreatic cancer SNP array 17952125 NR2C2 chr3 150212563 150212794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 150226586 150226665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 150230000 150287000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 EIF2A,SERP1 chr3 150230593 150287031 Gain or loss Breast cancer - 20668451 EIF2A,SERP1 chr3 150230593 150287031 Gain or loss Cancer - 20668451 EIF2A,SERP1 chr3 150230593 150287031 Gain or loss Lung cancer - 20668451 EIF2A,SERP1 chr3 150230593 150287031 Gain or loss Ovarian cancer - 20668451 EIF2A,SERP1 chr3 150230593 150287031 Gain or loss Pancreas cancer - 20668451 EIF2A,SERP1 chr3 150230593 150287031 Gain or loss Prostate cancer - 20668451 EIF2A,SERP1 chr3 150230594 150287031 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EIF2A,SERP1 chr3 150230594 150287031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EIF2A,SERP1 chr3 150230594 150287031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2A,SERP1 chr3 150230612 150287015 Gain and loss Pancreatic cancer SNP array 17952125 EIF2A,SERP1 chr3 150279941 150279994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EIF2A chr3 150289139 150289980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EIF2A chr3 150294830 150294939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EIF2A chr3 150294841 150294951 Gain and loss Pancreatic cancer SNP array 17952125 EIF2A chr3 150294849 150294951 Gain and loss Pancreatic cancer SNP array 17952125 EIF2A chr3 150300000 161300000 Deletion abnormal development HR-CGH, Array-CGH 18461090 AADAC,AADACL2,ARHGEF26,ARHGEF26-AS1,ARL14,B3GALNT1,C3orf33,C3orf55,C3orf79,C3orf80,CCNL1,CLRN1,CLRN1-AS1,DHX36,EIF2A,FAM194A,GFM1,GMPS,GPR149,GPR171,GPR87,IFT80,IGSF10,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100498859,LOC100507537,LOC201651,LOC339894,LOC401093,LOC730091,LXN,MBNL1,MED12L,MFSD1,MIR15B,MIR16-2,MIR3919,MIR5186,MIR548H2,MLF1,MME,NMD3,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PLCH1,PPM1L,PTX3,RAP2B,RARRES1,RSRC1,SCARNA7,SCHIP1,SELT,SHOX2,SIAH2,SLC33A1,SMC4,SPTSSB,SSR3,SUCNR1,TIPARP,TIPARP-AS1,TMEM14E,TRIM59,VEPH1 chr3 150308301 150314700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 150327063 150327390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SELT chr3 150330000 150373000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 SELT chr3 150330061 150373995 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SELT chr3 150330061 150373995 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 SELT chr3 150330061 150373995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SELT chr3 150330061 150373995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SELT chr3 150330069 150374003 Gain and loss Pancreatic cancer SNP array 17952125 SELT chr3 150372000 150422000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 FAM194A chr3 150372979 150422522 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FAM194A chr3 150373220 150422519 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM194A chr3 150373220 150422519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM194A chr3 150373220 150422519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM194A chr3 150374075 150422277 Gain and loss Pancreatic cancer SNP array 17952125 FAM194A chr3 150390418 150435230 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM194A chr3 150395686 150456991 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM194A chr3 150400000 153500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AADAC,AADACL2,C3orf79,CLRN1,CLRN1-AS1,FAM194A,GPR171,GPR87,IGSF10,LOC201651,LOC401093,MBNL1,MED12L,MIR5186,MIR548H2,P2RY1,P2RY12,P2RY13,P2RY14,RAP2B,SIAH2,SUCNR1,TMEM14E chr3 150400000 153500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AADAC,AADACL2,C3orf79,CLRN1,CLRN1-AS1,FAM194A,GPR171,GPR87,IGSF10,LOC201651,LOC401093,MBNL1,MED12L,MIR5186,MIR548H2,P2RY1,P2RY12,P2RY13,P2RY14,RAP2B,SIAH2,SUCNR1,TMEM14E chr3 150400000 153500000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 AADAC,AADACL2,C3orf79,CLRN1,CLRN1-AS1,FAM194A,GPR171,GPR87,IGSF10,LOC201651,LOC401093,MBNL1,MED12L,MIR5186,MIR548H2,P2RY1,P2RY12,P2RY13,P2RY14,RAP2B,SIAH2,SUCNR1,TMEM14E chr3 150400000 193800000 Amplification Esophageal squamous carcinoma CGH 21637470 AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ARHGEF26,ARHGEF26-AS1,ARL14,ATP11B,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,C3orf33,C3orf55,C3orf65,C3orf70,C3orf79,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CLRN1,CLRN1-AS1,CRYGS,DCUN1D1,DGKG,DHX36,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM194A,FETUB,FGF12,FLJ42393,FLJ46066,FNDC3B,FXR1,GFM1,GHSR,GMNC,GMPS,GNB4,GOLIM4,GPR149,GPR160,GPR171,GPR87,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IGSF10,IL12A,IL1RAP,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LOC100128023,LOC100128164,LOC100131635,LOC100498859,LOC100505687,LOC100507537,LOC201651,LOC253573,LOC339894,LOC344887,LOC401093,LOC646168,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRRC31,LRRC34,LRRIQ4,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBNL1,MCCC1,MCF2L2,MECOM,MED12L,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR5186,MIR548H2,MIR551B,MIR569,MIR944,MLF1,MME,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PARL,PDCD10,PEX5L,PHC3,PIK3CA,PLCH1,PLD1,POLR2H,PPM1L,PRKCI,PSMD2,PTX3,PYDC2,RAP2B,RARRES1,RFC4,RPL22L1,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SEC62,SENP2,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SKIL,SLC2A2,SLC33A1,SLC7A14,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SSR3,SST,ST6GAL1,SUCNR1,TBCCD1,TBL1XR1,TERC,THPO,TIPARP,TIPARP-AS1,TMEM14E,TMEM207,TMEM212,TMEM41A,TNFSF10,TNIK,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM59,TTC14,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 150428397 150467134 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SIAH2 chr3 150433789 150434023 Gain Normal 244K array 17666407 NOT_FOUND chr3 150444731 150456991 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 150444943 150445637 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 150445637 150446084 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 150445852 150452420 Loss Normal 244K array 17666407 NOT_FOUND chr3 150446084 150450811 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 150446085 150450025 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr3 150452611 150452687 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 150454031 150454131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 150454958 150455058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 150459001 150460500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SIAH2 chr3 150461548 150461648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SIAH2 chr3 150466521 150467521 Gain Chordoma References 21215367 SIAH2 chr3 150481453 150481526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 150491239 150491303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 150497885 150497985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 15050317 25884329 Copy number gain Normal High-resolution SNP genotyping 21211785 ANKRD28,BTD,CAPN7,COL6A4P1,COLQ,DAZL,DPH3,EAF1,EFHB,GALNTL2,HACL1,KAT2B,KCNH8,LOC100505696,LOC152024,LOC339862,LOC644990,METTL6,MIR3714,MIR4270,MIR4442,MIR4791,MIR4792,MIR548AC,MIR563,MRPS25,NGLY1,NKIRAS1,NR1D2,NR2C2,OXNAD1,OXSM,PLCL2,PP2D1,RAB5A,RARB,RFTN1,RPL15,SATB1,SGOL1,SGOL1-AS1,SH3BP5,TBC1D5,THRB,TOP2B,UBE2E1,UBE2E2,VENTXP7,ZFYVE20,ZNF385D chr3 150518000 150533000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 150519452 150534160 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 150519452 150534160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150519452 150534160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150519460 150534168 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 150557682 150558022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150557690 150558030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 150569000 150578000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 150569495 150578258 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 150569495 150578258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150569495 150578258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 150569507 150578244 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1 50600000 Copy number Lynch syndrome Illumina BeadArrays and the GoldenGate assay 18415027 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,ARIH2,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,ATRIP,AZI2,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHL1,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DHX30,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GMPPB,GNAI2,GNAT1,GOLGA4,GORASP1,GPD1L,GPX1,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RC,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRRN1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAP4,METTL6,MIR1226,MIR128-2,MIR138-1,MIR191,MIR26A1,MIR3714,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NGLY1,NICN1,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PDCD6IP,PFKFB4,PLCD1,PLCL2,PLXNB1,PP2D1,PPARG,PRKAR2A,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAB5A,RAD18,RAF1,RARB,RASSF1,RBM5,RBM6,RBMS3,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL32,RPSA,RPUSD3,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SEMA3B,SEMA3F,SETD2,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SMARCC1,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SPINK8,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMA7,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WDR6,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 150631832 151324527 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLRN1,CLRN1-AS1,GPR171,GPR87,IGSF10,MED12L,MIR5186,P2RY12,P2RY13,P2RY14 chr3 150638016 152615878 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AADAC,AADACL2,CLRN1,CLRN1-AS1,GPR171,GPR87,IGSF10,LOC201651,LOC401093,MBNL1,MED12L,MIR5186,MIR548H2,P2RY1,P2RY12,P2RY13,P2RY14,SUCNR1,TMEM14E chr3 150641881 150686187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLRN1 chr3 150646663 150646743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLRN1 chr3 15065024 15081820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR2C2 chr3 15065024 15081820 Gain and loss Pancreatic cancer SNP array 17952125 NR2C2 chr3 15065024 15081820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR2C2 chr3 150674451 150716260 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLRN1,CLRN1-AS1 chr3 150674451 150716260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLRN1,CLRN1-AS1 chr3 150674459 150703766 Gain and loss Pancreatic cancer SNP array 17952125 CLRN1,CLRN1-AS1 chr3 150675000 150703000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLRN1,CLRN1-AS1 chr3 150717000 150858000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 CLRN1-AS1,MED12L chr3 150717713 150858472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CLRN1-AS1,MED12L chr3 150717713 150858472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLRN1-AS1,MED12L chr3 150717713 150858472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLRN1-AS1,MED12L chr3 150720731 150903758 Gain and loss Pancreatic cancer SNP array 17952125 CLRN1-AS1,MED12L chr3 150742387 150742441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLRN1-AS1 chr3 150751162 150752836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLRN1-AS1 chr3 150751164 150752838 Deletion Non-syndromic sensorineural hearing loss Targeted BAC, Agilent24M 19587683 CLRN1-AS1 chr3 150751220 150752863 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CLRN1-AS1 chr3 150755648 150755708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLRN1-AS1 chr3 150770000 153200000 Gain Breast cancer aCGH 21509527 AADAC,AADACL2,CLRN1-AS1,GPR171,GPR87,IGSF10,LOC201651,LOC401093,MBNL1,MED12L,MIR5186,MIR548H2,P2RY1,P2RY12,P2RY13,P2RY14,RAP2B,SUCNR1,TMEM14E chr3 150858001 150859500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MED12L chr3 15086584 15115659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MRPS25,NR2C2,ZFYVE20 chr3 15086584 15115659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MRPS25,NR2C2,ZFYVE20 chr3 15086588 15115659 Gain and loss Pancreatic cancer SNP array 17952125 MRPS25,NR2C2,ZFYVE20 chr3 150866684 150900994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MED12L chr3 150940725 150940825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED12L,P2RY14 chr3 150941000 150952000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 MED12L,P2RY14 chr3 150941222 150952968 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MED12L,P2RY14 chr3 150941222 150952968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MED12L,P2RY14 chr3 150941222 150952968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED12L,P2RY14 chr3 150941230 150952976 Gain and loss Pancreatic cancer SNP array 17952125 MED12L,P2RY14 chr3 15095056 15095156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS25 chr3 150961000 150993000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 MED12L,P2RY14 chr3 150968444 150992843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED12L,P2RY14 chr3 150971027 150992843 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MED12L,P2RY14 chr3 151013000 151162000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 GPR87,IGSF10,MED12L,P2RY12,P2RY13 chr3 151013165 151162616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR87,IGSF10,MED12L,P2RY12,P2RY13 chr3 151013165 151162616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR87,IGSF10,MED12L,P2RY12,P2RY13 chr3 151013194 151162613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GPR87,IGSF10,MED12L,P2RY12,P2RY13 chr3 151013202 151162621 Gain and loss Pancreatic cancer SNP array 17952125 GPR87,IGSF10,MED12L,P2RY12,P2RY13 chr3 15105894 15106009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MRPS25 chr3 151067688 151067752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED12L,P2RY12 chr3 151088843 151088925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED12L,P2RY12 chr3 151106729 151106829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED12L chr3 151117840 151117926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MED12L chr3 151117848 151117934 Gain and loss Pancreatic cancer SNP array 17952125 MED12L chr3 151139799 151140282 Gain and loss Pancreatic cancer SNP array 17952125 MED12L chr3 151148542 151148764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED12L chr3 151148550 151148650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MED12L chr3 151165000 151171000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 IGSF10 chr3 151165384 151171431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IGSF10 chr3 151165384 151171431 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGSF10 chr3 151165384 151171431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGSF10 chr3 151165396 151171591 Gain and loss Pancreatic cancer SNP array 17952125 IGSF10 chr3 151171756 151173225 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IGSF10 chr3 151171764 151173233 Gain and loss Pancreatic cancer SNP array 17952125 IGSF10 chr3 151175177 151175277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGSF10 chr3 151182655 151183785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151182663 151183793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151184779 151185274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151184781 151185276 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151191871 151191945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151274420 151274508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151278206 151278308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151278214 151278316 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151306282 151306382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151348944 151373046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548H2 chr3 151360756 151361065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548H2 chr3 151367840 151376987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548H2 chr3 151388090 151432564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548H2 chr3 151393225 151393325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548H2 chr3 1 51400000 Loss Renal cell carcinoma Affymetrix GeneChip Human Mapping 10K Array 18592004 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,ARIH2,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,ATRIP,AZI2,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DHX30,DLEC1,DOCK3,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GMPPB,GNAI2,GNAT1,GOLGA4,GORASP1,GPD1L,GPX1,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RC,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRRN1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR138-1,MIR191,MIR26A1,MIR3714,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NGLY1,NICN1,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PDCD6IP,PFKFB4,PLCD1,PLCL2,PLXNB1,PP2D1,PPARG,PRKAR2A,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAB5A,RAD18,RAF1,RARB,RASSF1,RBM5,RBM6,RBMS3,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL32,RPSA,RPUSD3,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SEMA3B,SEMA3F,SETD2,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SMARCC1,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SPINK8,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMA7,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WDR6,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 151427270 151427370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548H2 chr3 151442254 151442413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548H2 chr3 151442262 151442326 Gain and loss Pancreatic cancer SNP array 17952125 MIR548H2 chr3 151442262 151442410 Gain and loss Pancreatic cancer SNP array 17952125 MIR548H2 chr3 151475491 151475591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AADACL2,MIR548H2 chr3 151508469 162207623 Loss Prostate cancer Array CGH 18632612 AADAC,ARHGEF26,ARHGEF26-AS1,ARL14,B3GALNT1,C3orf33,C3orf55,C3orf79,C3orf80,CCNL1,DHX36,GFM1,GMPS,GPR149,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100498859,LOC100507537,LOC339894,LOC401093,LOC730091,LXN,MBNL1,MFSD1,MIR15B,MIR16-2,MIR3919,MIR548H2,MLF1,MME,NMD3,OTOL1,P2RY1,PA2G4P4,PLCH1,PPM1L,PTX3,RAP2B,RARRES1,RSRC1,SCARNA7,SCHIP1,SHOX2,SLC33A1,SMC4,SPTSSB,SSR3,SUCNR1,TIPARP,TIPARP-AS1,TMEM14E,TRIM59,VEPH1 chr3 15150894 15151041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151560657 152582811 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC401093,MBNL1,P2RY1,SUCNR1,TMEM14E chr3 151560657 152582811 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC401093,MBNL1,P2RY1,SUCNR1,TMEM14E chr3 151597601 151850600 Copy number Normal ReadDepth: A Parallel R Package 21305028 SUCNR1 chr3 151604634 151604838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 151608812 151660303 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 151608812 151660303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151608812 151660303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151608820 151660311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151609000 151660000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 151609501 151611500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 151678573 151678653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151731418 151731518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151742000 151747000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 151742471 151747118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 151742471 151747118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151742471 151747118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151742996 151803659 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151747000 151786000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 151747209 151786492 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 151747209 151786492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151747209 151786492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151747214 151784725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151748627 151748838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151748860 151749046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151771683 151772683 Loss Chordoma References 21215367 NOT_FOUND chr3 151803000 151830000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 151803755 151830924 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 151803756 151830922 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 151803764 151830930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151803813 151828855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 15181503 15191839 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151823357 151823457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151850188 151851188 Gain Chordoma References 21215367 NOT_FOUND chr3 151850601 152660200 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC401093,MBNL1,P2RY1,TMEM14E chr3 151859 156229 Copy number Autism exome sequencing 22495311 NOT_FOUND chr3 151860000 151904000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 151860367 151904432 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 151860367 151904432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151860367 151904432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151860375 151904440 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151902810 151902862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151910840 151910940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 151921118 151953034 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 151941000 151963000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 151941611 151963953 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 151941611 151963953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151941611 151963953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 151941612 151963642 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 151979001 151980500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC401093 chr3 1 5200000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ARL8B,BHLHE40,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EGOT,IL5RA,ITPR1,LOC100507582,LRRN1,SETMAR,SUMF1,TRNT1 chr3 152036556 152038470 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MBNL1 chr3 152053759 152053925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBNL1 chr3 152053960 152054128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBNL1 chr3 152071522 152094779 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MBNL1 chr3 152071522 152094779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBNL1 chr3 152080670 152080770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBNL1 chr3 152100143 152117864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MBNL1 chr3 152118174 152118272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBNL1 chr3 152126000 152144000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 MBNL1 chr3 152126640 152173476 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MBNL1 chr3 152126640 152173476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MBNL1 chr3 152126640 152173476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MBNL1 chr3 152126648 152173484 Gain and loss Pancreatic cancer SNP array 17952125 MBNL1 chr3 152127043 152173476 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 MBNL1 chr3 152135196 152135296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBNL1 chr3 152144281 152145281 Loss Chordoma References 21215367 MBNL1 chr3 152170528 152170613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MBNL1 chr3 152196463 152196563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 152226068 152226168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 15222736 15269427 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CAPN7,COL6A4P1 chr3 15222737 15269426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPN7,COL6A4P1 chr3 15222737 15269426 Gain and loss Pancreatic cancer SNP array 17952125 CAPN7,COL6A4P1 chr3 15222737 15269426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN7,COL6A4P1 chr3 152274323 152440183 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 15227977 15228052 Gain and loss Pancreatic cancer SNP array 17952125 COL6A4P1 chr3 15227977 15228052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL6A4P1 chr3 152286879 152634508 Gain and loss Pancreatic cancer SNP array 17952125 P2RY1 chr3 152287000 152637000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 P2RY1 chr3 152287365 152634500 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 P2RY1 chr3 152287366 152634500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 P2RY1 chr3 152287366 152634500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P2RY1 chr3 152287366 152634500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RY1 chr3 152364873 152364962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 152388576 152388700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152388584 152388669 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152388588 152388693 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152398000 152403000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 152398326 152403677 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152398331 152403669 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 152398331 152403678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152398331 152403678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152407140 152411849 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 152412000 152478000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 152412594 152478920 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 152412594 152478920 Gain or loss Cancer - 20668451 NOT_FOUND chr3 152412594 152478920 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 152412594 152478920 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 152412594 152478920 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 152412594 152478920 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 152412595 152478847 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 152412595 152478920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152412595 152478920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152412603 152478855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152414815 152414915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 152421464 152422036 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152443146 152444161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152446845 152448013 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152450760 152974821 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-387K arrays 21546498 P2RY1,RAP2B chr3 15246112 15246212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL6A4P1 chr3 152479832 152481713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152480500 152480815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152494000 152517000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 152494587 152517326 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 152494587 152517326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152494587 152517326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152494595 152517334 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152526000 152530000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 152526785 152530025 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 152526785 152530025 Gain or loss Cancer - 20668451 NOT_FOUND chr3 152526785 152530025 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 152526785 152530025 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 152526785 152530025 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 152526785 152530025 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 152526786 152530025 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 152526786 152530025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152526786 152530025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152526794 152530033 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 15253514 15253604 Gain and loss Pancreatic cancer SNP array 17952125 CAPN7 chr3 15253514 15253604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN7 chr3 152537858 152585229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P2RY1 chr3 152537858 152585229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P2RY1 chr3 152538000 152585000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 P2RY1 chr3 152538065 152585234 Gain or loss Breast cancer - 20668451 P2RY1 chr3 152538065 152585234 Gain or loss Cancer - 20668451 P2RY1 chr3 152538065 152585234 Gain or loss Lung cancer - 20668451 P2RY1 chr3 152538065 152585234 Gain or loss Ovarian cancer - 20668451 P2RY1 chr3 152538065 152585234 Gain or loss Pancreas cancer - 20668451 P2RY1 chr3 152538065 152585234 Gain or loss Prostate cancer - 20668451 P2RY1 chr3 152538066 152585234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 P2RY1 chr3 152538074 152585242 Gain and loss Pancreatic cancer SNP array 17952125 P2RY1 chr3 1525614 1525700 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 152589872 152590872 Loss Chordoma References 21215367 NOT_FOUND chr3 152609411 152632082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 15261269 15261329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAPN7 chr3 152622323 152644888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152623952 174172004 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACTRT3,ARHGEF26,ARHGEF26-AS1,ARL14,B3GALNT1,BCHE,C3orf33,C3orf55,C3orf79,C3orf80,CCNL1,CLDN11,DHX36,ECT2,EGFEM1P,EIF5A2,FNDC3B,GFM1,GHSR,GMPS,GOLIM4,GPR149,GPR160,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100128164,LOC100498859,LOC100507537,LOC339894,LOC646168,LOC647107,LOC730091,LRRC31,LRRC34,LRRIQ4,LXN,MECOM,MFSD1,MIR15B,MIR16-2,MIR3919,MIR551B,MIR569,MLF1,MME,MYNN,NCEH1,NLGN1,NMD3,OTOL1,PA2G4P4,PDCD10,PHC3,PLCH1,PLD1,PPM1L,PRKCI,PTX3,RAP2B,RARRES1,RPL22L1,RSRC1,SAMD7,SCARNA7,SCHIP1,SEC62,SERPINI1,SERPINI2,SHOX2,SI,SKIL,SLC2A2,SLC33A1,SLC7A14,SLITRK3,SMC4,SPATA16,SPTSSB,SSR3,TERC,TIPARP,TIPARP-AS1,TMEM212,TNFSF10,TNIK,TRIM59,VEPH1,WDR49,ZBBX chr3 152624130 152633059 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152628089 152633097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152636000 152641000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 NOT_FOUND chr3 152637166 152659187 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 152637167 152659187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 152637167 152659187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152637167 152659187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152637175 152659195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152660201 156176900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARHGEF26,ARHGEF26-AS1,C3orf33,C3orf79,DHX36,GMPS,GPR149,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LOC100507537,MME,PLCH1,RAP2B,SLC33A1 chr3 152679324 152702656 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 15271360 15357905 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CAPN7,LOC100505696,SH3BP5 chr3 15271361 15349108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAPN7,LOC100505696,SH3BP5 chr3 15271361 15349108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAPN7,LOC100505696,SH3BP5 chr3 15271368 15349091 Gain and loss Pancreatic cancer SNP array 17952125 CAPN7,LOC100505696,SH3BP5 chr3 152780885 152813973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152808981 152853684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152834828 152834941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152844675 152844975 Loss Chordoma References 21215367 NOT_FOUND chr3 152851401 152851575 Gain Normal 244K array 17666407 NOT_FOUND chr3 152857826 152879450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152860146 152874931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152862617 152874470 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152862731 152880775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAP2B chr3 152863394 152888624 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAP2B chr3 152864556 152877560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152864623 152871206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 152881933 152891968 Gain Normal 244K array 17666407 RAP2B chr3 15289039 15289102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAPN7 chr3 152895244 153560315 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf79 chr3 152895244 153560315 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf79 chr3 152934405 152958242 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 152934405 152958242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152934405 152958242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 152934413 152958250 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 152957978 153145873 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 152976315 152976372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 152985900 152985959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 153014551 153028966 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 153014551 153028966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153014551 153028966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153014564 153028972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 153033348 153033433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 153074126 153082340 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 153074126 153082340 Gain or loss Cancer - 20668451 NOT_FOUND chr3 153074126 153082340 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 153074126 153082340 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 153074126 153082340 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 153074126 153082340 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 153074135 153082348 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 153080371 153082026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 153080371 153082026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153080371 153082026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153080411 153110616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 153101025 153121007 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 153157638 153424169 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 C3orf79 chr3 153164536 153181823 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 15319111 15319211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3BP5 chr3 153247621 153248060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 153279911 153285232 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr3 153279911 153285232 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 153307079 153307175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 153313491 153313591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 153341117 153373356 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 153377237 153382351 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 153424169 153721599 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NOT_FOUND chr3 153432947 153433097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 153468519 153666258 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 153468519 153666258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153468519 153666258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153468527 153666266 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 153500000 156300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGEF26,ARHGEF26-AS1,C3orf33,DHX36,GMPS,GPR149,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LOC100507537,MME,PLCH1,SLC33A1,SSR3 chr3 153500000 156300000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ARHGEF26,ARHGEF26-AS1,C3orf33,DHX36,GMPS,GPR149,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LOC100507537,MME,PLCH1,SLC33A1,SSR3 chr3 153502333 153502433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 153540176 153541469 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 153541006 153541383 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 153541006 153541383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153541006 153541383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153541014 153541391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 153546031 153546131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 15356260 15356361 Gain and loss Pancreatic cancer SNP array 17952125 SH3BP5 chr3 15356260 15356362 Gain and loss Pancreatic cancer SNP array 17952125 SH3BP5 chr3 15356260 15356366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3BP5 chr3 153571655 153571755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 153590898 199163964 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ARHGEF26,ARHGEF26-AS1,ARL14,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,C3orf33,C3orf43,C3orf55,C3orf65,C3orf70,C3orf80,CAMK2N2,CCDC39,CCDC50,CCNL1,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DHX36,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GFM1,GHSR,GMNC,GMPS,GNB4,GOLIM4,GP5,GPR149,GPR160,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IL12A,IL1RAP,IQCG,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEKR1,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100498859,LOC100505687,LOC100507391,LOC100507537,LOC152217,LOC220729,LOC253573,LOC339894,LOC344887,LOC401109,LOC646168,LOC647107,LOC647323,LOC730091,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MECOM,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR4797,MIR551B,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MLF1,MME,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,PA2G4P4,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PHC3,PIGX,PIGZ,PIK3CA,PLCH1,PLD1,POLR2H,PPM1L,PPP1R2,PRKCI,PSMD2,PTX3,PYDC2,RARRES1,RFC4,RNF168,RPL22L1,RPL35A,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SENP2,SENP5,SERPINI1,SERPINI2,SHOX2,SI,SKIL,SLC2A2,SLC33A1,SLC51A,SLC7A14,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SSR3,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TIPARP,TIPARP-AS1,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM59,TTC14,UBXN7,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR53,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZMAT3,ZNF639 chr3 153615205 153615269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 153649751 153649863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 153649759 153649869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 153649760 153649869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 153690281 154891485 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF26,ARHGEF26-AS1,DHX36,GPR149,MME chr3 153690281 155066924 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF26,ARHGEF26-AS1,DHX36,GPR149,LOC100507537,MME chr3 153737482 155411990 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF26,ARHGEF26-AS1,DHX36,GPR149,LOC100507537,MME,PLCH1 chr3 153786953 153831761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARHGEF26-AS1 chr3 153792401 153797900 Deletion Glioma mate-paired sequence 20126413 ARHGEF26-AS1 chr3 153794414 153795845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF26-AS1 chr3 153829557 153838604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF26-AS1 chr3 153906953 155170944 Gain Bladder cancer array-CGH 21909424 ARHGEF26,DHX36,GPR149,LOC100507537,MME chr3 154033288 154033612 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DHX36 chr3 154035001 154036500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHX36 chr3 154035425 154038533 Gain or loss Breast cancer - 20668451 DHX36 chr3 154035425 154038533 Gain or loss Cancer - 20668451 DHX36 chr3 154035425 154038533 Gain or loss Lung cancer - 20668451 DHX36 chr3 154035425 154038533 Gain or loss Ovarian cancer - 20668451 DHX36 chr3 154035425 154038533 Gain or loss Pancreas cancer - 20668451 DHX36 chr3 154035425 154038533 Gain or loss Prostate cancer - 20668451 DHX36 chr3 154035434 154038539 Gain and loss Pancreatic cancer SNP array 17952125 DHX36 chr3 154036240 154037404 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 DHX36 chr3 154036240 154037898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX36 chr3 154081212 165141756 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ARL14,B3GALNT1,C3orf33,C3orf55,C3orf80,CCNL1,GFM1,GMPS,GPR149,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100498859,LOC100507537,LOC339894,LOC647107,LOC730091,LXN,MFSD1,MIR15B,MIR16-2,MIR3919,MLF1,MME,NMD3,OTOL1,PA2G4P4,PLCH1,PPM1L,PTX3,RARRES1,RSRC1,SCARNA7,SCHIP1,SHOX2,SI,SLC33A1,SLITRK3,SMC4,SPTSSB,SSR3,TIPARP,TIPARP-AS1,TRIM59,VEPH1 chr3 154120173 154120238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR149 chr3 154120181 154120246 Gain and loss Pancreatic cancer SNP array 17952125 GPR149 chr3 154120272 154120344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR149 chr3 154120280 154120352 Gain and loss Pancreatic cancer SNP array 17952125 GPR149 chr3 154181897 154192056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 154208836 154283918 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 154227050 154227150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 154242413 154283918 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 154249297 154249396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 15426381 15444046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 15426381 15444046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 154269508 154269584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 154286249 154286349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 154334698 154335000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 154334706 154335008 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 154355933 154356012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 154361001 154364000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 154362718 154368953 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 154362718 154368953 Gain or loss Cancer - 20668451 NOT_FOUND chr3 154362718 154368953 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 154362718 154368953 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 154362718 154368953 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 154362718 154368953 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 154362719 154368955 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 154362719 154368955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 154362719 154368955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 154362727 154368963 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 154368132 154368436 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 154374118 154374218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1 54393000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACAA1,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,ARIH2,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,ATRIP,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRRN1,LSM3,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3714,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 1 54400000 Amplification Urothelial carcinoma CGH and FISH 18382360 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACAA1,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,ARIH2,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,ATRIP,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRRN1,LSM3,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3714,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 154400181 154400496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 154400187 154400504 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 154407 154507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 15443866 15459118 Gain and loss Pancreatic cancer SNP array 17952125 METTL6 chr3 15444067 15459124 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 METTL6 chr3 15444068 15459121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 METTL6 chr3 15444068 15459121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 METTL6 chr3 15449621 15449727 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 15449621 15449727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 15466644 15538262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COLQ,EAF1,METTL6,MIR4270 chr3 15466644 15538262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COLQ,EAF1,METTL6,MIR4270 chr3 154671945 154672050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 154671953 154672058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 15469006 15470228 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 EAF1,METTL6 chr3 15469040 15469118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EAF1,METTL6 chr3 154733979 154734079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 154767378 154768356 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 154774713 154775713 Gain Chordoma References 21215367 NOT_FOUND chr3 154787423 154787523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 154807856 154807957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MME chr3 154807864 154807958 Gain and loss Pancreatic cancer SNP array 17952125 MME chr3 154807864 154807963 Gain and loss Pancreatic cancer SNP array 17952125 MME chr3 154859341 154859403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MME chr3 154859349 154859411 Gain and loss Pancreatic cancer SNP array 17952125 MME chr3 154859408 154859466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MME chr3 154859416 154859474 Gain and loss Pancreatic cancer SNP array 17952125 MME chr3 154869016 154869074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MME chr3 154884350 156346594 LOH Normal High-resolution SNP genotyping 21211785 C3orf33,GMPS,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LOC100507537,MME,PLCH1,SLC33A1,SSR3 chr3 15492120 17732941 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-400K arrays 21546498 ANKRD28,BTD,COLQ,DAZL,DPH3,GALNTL2,HACL1,MIR3714,MIR4270,MIR563,OXNAD1,PLCL2,RFTN1,TBC1D5 chr3 154927561 154928561 Gain Chordoma References 21215367 NOT_FOUND chr3 154947722 154952878 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 155000000 157000000 Deletion Cancer Array CGH 17440070 C3orf33,CCNL1,GMPS,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LEKR1,LOC100498859,LOC100507537,LOC339894,LOC730091,PA2G4P4,PLCH1,SLC33A1,SSR3,TIPARP,TIPARP-AS1,VEPH1 chr3 155000000 157000000 Gain Esophageal squamous carcinoma Array CGH 17470683 C3orf33,CCNL1,GMPS,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LEKR1,LOC100498859,LOC100507537,LOC339894,LOC730091,PA2G4P4,PLCH1,SLC33A1,SSR3,TIPARP,TIPARP-AS1,VEPH1 chr3 155000000 167600000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ARL14,B3GALNT1,BCHE,C3orf33,C3orf55,C3orf80,CCNL1,GFM1,GMPS,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100498859,LOC100507537,LOC339894,LOC647107,LOC730091,LXN,MFSD1,MIR15B,MIR16-2,MIR3919,MLF1,NMD3,OTOL1,PA2G4P4,PDCD10,PLCH1,PPM1L,PTX3,RARRES1,RSRC1,SCARNA7,SCHIP1,SERPINI1,SERPINI2,SHOX2,SI,SLC33A1,SLITRK3,SMC4,SPTSSB,SSR3,TIPARP,TIPARP-AS1,TRIM59,VEPH1,WDR49,ZBBX chr3 155000000 167600000 Gain Prostate cancer CGH 16547154 ARL14,B3GALNT1,BCHE,C3orf33,C3orf55,C3orf80,CCNL1,GFM1,GMPS,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KPNA4,LEKR1,LOC100498859,LOC100507537,LOC339894,LOC647107,LOC730091,LXN,MFSD1,MIR15B,MIR16-2,MIR3919,MLF1,NMD3,OTOL1,PA2G4P4,PDCD10,PLCH1,PPM1L,PTX3,RARRES1,RSRC1,SCARNA7,SCHIP1,SERPINI1,SERPINI2,SHOX2,SI,SLC33A1,SLITRK3,SMC4,SPTSSB,SSR3,TIPARP,TIPARP-AS1,TRIM59,VEPH1,WDR49,ZBBX chr3 155017627 155017978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 155040477 155040675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 155081554 155081654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 155134726 155134826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 155200809 155200909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCH1 chr3 155207846 155207981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCH1 chr3 155207853 155207989 Gain and loss Pancreatic cancer SNP array 17952125 PLCH1 chr3 155207855 155207990 Gain and loss Pancreatic cancer SNP array 17952125 PLCH1 chr3 15523134 15523416 Gain and loss Pancreatic cancer SNP array 17952125 COLQ chr3 15523134 15523416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COLQ chr3 15523136 15523416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COLQ chr3 155236524 155236571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCH1 chr3 155321490 155457039 Gain and loss Pancreatic cancer SNP array 17952125 PLCH1 chr3 155321501 155323000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PLCH1 chr3 155321884 155457031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLCH1 chr3 155321884 155457031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLCH1 chr3 155327060 155456112 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 PLCH1 chr3 155356078 155770394 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf33,GMPS,PLCH1,SLC33A1 chr3 155356078 155770394 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf33,GMPS,PLCH1,SLC33A1 chr3 155358200 155385447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLCH1 chr3 1553749 1636120 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr3 155457120 156885552 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 C3orf33,CCNL1,GMPS,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,LEKR1,LOC100498859,LOC339894,LOC730091,PA2G4P4,SLC33A1,SSR3,TIPARP,TIPARP-AS1 chr3 155476152 155524971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf33 chr3 155476152 155524971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf33 chr3 155476160 155524979 Gain and loss Pancreatic cancer SNP array 17952125 C3orf33 chr3 155513988 155545543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C3orf33,SLC33A1 chr3 155530199 155530300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 155530207 155530308 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 155538155 155630198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GMPS,SLC33A1 chr3 155538155 155630198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GMPS,SLC33A1 chr3 155538619 155629641 Gain and loss Pancreatic cancer SNP array 17952125 GMPS,SLC33A1 chr3 155544315 155572167 Copy number Paraplegias MLPA assay 20461110 SLC33A1 chr3 15555138 16231681 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD28,BTD,COLQ,GALNTL2,HACL1,MIR563 chr3 15555138 16397993 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD28,BTD,COLQ,DPH3,GALNTL2,HACL1,MIR563,OXNAD1,RFTN1 chr3 155579428 155579747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 15559501 15761900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD28,BTD,COLQ,HACL1 chr3 15572232 15572332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 155724320 155724420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 155740971 156041425 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KCNAB1,KCNAB1-AS2 chr3 15577246 15618071 Gain and loss Pancreatic cancer SNP array 17952125 HACL1 chr3 15577246 15618134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HACL1 chr3 15577246 15618134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HACL1 chr3 155838336 156256927 Deletion Sudden cardiac death CGH 19188705 KCNAB1,KCNAB1-AS1,KCNAB1-AS2 chr3 15584364 15584408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 155933574 155934574 Loss Chordoma References 21215367 KCNAB1,KCNAB1-AS2 chr3 155979561 155979661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 156038619 156038714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 156067730 156067818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 156091989 156092089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 156131053 156131373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNAB1 chr3 156176901 159187600 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf55,CCNL1,GFM1,IQCJ,IQCJ-SCHIP1,KCNAB1,LEKR1,LOC100498859,LOC339894,LOC730091,LXN,MFSD1,MIR3919,MLF1,PA2G4P4,PTX3,RARRES1,RSRC1,SCHIP1,SHOX2,SSR3,TIPARP,TIPARP-AS1,VEPH1 chr3 15618253 15662328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BTD,HACL1 chr3 15618253 15662328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BTD,HACL1 chr3 15618327 15662328 Gain and loss Pancreatic cancer SNP array 17952125 BTD,HACL1 chr3 156186875 156186973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 156230269 156230369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 156239648 156239880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 156239874 156240085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 156239890 156240004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNAB1 chr3 1 562467 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CHL1 chr3 1 562467 Copy number gain Normal High-resolution SNP genotyping 21211785 CHL1 chr3 156247362 156248362 Gain Chordoma References 21215367 KCNAB1 chr3 156280882 156384212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 156280882 156384212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 156284659 156384194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 156286767 156287067 Gain Chordoma References 21215367 NOT_FOUND chr3 156286917 156287917 Gain Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr3 156300000 158100000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 C3orf55,CCNL1,LEKR1,LOC100498859,LOC339894,LOC730091,PA2G4P4,PTX3,RSRC1,SHOX2,TIPARP,TIPARP-AS1,VEPH1 chr3 156327690 156327790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 156350910 156351010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 156351656 156351751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 15639165 15639386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HACL1 chr3 156406005 156440778 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TIPARP chr3 156407472 156440778 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TIPARP chr3 156440181 156440260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 156502186 156529499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC730091,PA2G4P4 chr3 156509918 156510298 Gain and loss Pancreatic cancer SNP array 17952125 LOC730091 chr3 156526729 157657794 LOH Normal High-resolution SNP genotyping 21211785 C3orf55,CCNL1,LEKR1,LOC100498859,LOC339894,LOC730091,PA2G4P4,PTX3,VEPH1 chr3 156546587 156578351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LEKR1 chr3 156555191 161079909 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-430K arrays 21546498 ARL14,B3GALNT1,C3orf55,C3orf80,CCNL1,GFM1,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KPNA4,LEKR1,LOC100498859,LOC339894,LXN,MFSD1,MIR15B,MIR16-2,MIR3919,MLF1,NMD3,PPM1L,PTX3,RARRES1,RSRC1,SCARNA7,SCHIP1,SHOX2,SMC4,SPTSSB,TRIM59,VEPH1 chr3 156562778 156593352 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LEKR1 chr3 156576063 156876522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCNL1,LEKR1,LOC100498859,LOC339894 chr3 156576063 156876522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCNL1,LEKR1,LOC100498859,LOC339894 chr3 156576063 156876522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCNL1,LEKR1,LOC100498859,LOC339894 chr3 156576071 156784052 Gain and loss Pancreatic cancer SNP array 17952125 LEKR1 chr3 156603994 163953896 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARL14,B3GALNT1,C3orf55,C3orf80,CCNL1,GFM1,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KPNA4,LEKR1,LOC100498859,LOC339894,LOC647107,LXN,MFSD1,MIR15B,MIR16-2,MIR3919,MLF1,NMD3,OTOL1,PPM1L,PTX3,RARRES1,RSRC1,SCARNA7,SCHIP1,SHOX2,SMC4,SPTSSB,TRIM59,VEPH1 chr3 156638017 156638299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEKR1 chr3 156638019 156638306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEKR1 chr3 156638025 156638307 Gain and loss Pancreatic cancer SNP array 17952125 LEKR1 chr3 156640684 157516106 LOH Normal High-resolution SNP genotyping 21211785 C3orf55,CCNL1,LEKR1,LOC100498859,LOC339894,PTX3,VEPH1 chr3 156698309 156699309 Gain Chordoma References 21215367 LEKR1 chr3 15683747 15876057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANKRD28,BTD chr3 15683747 15876057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD28,BTD chr3 156893652 156893976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 156909369 156976412 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 156916487 156973549 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 156942612 156942712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 156950439 156950539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 156951772 157009981 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VEPH1 chr3 156963095 157006755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VEPH1 chr3 156963095 157006755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VEPH1 chr3 156963109 157006763 Gain and loss Pancreatic cancer SNP array 17952125 VEPH1 chr3 156963790 156974871 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 156963922 156981143 Gain Normal 244K array 17666407 VEPH1 chr3 156967842 156968025 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 156977993 156978083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VEPH1 chr3 157027019 157054897 Gain and loss Pancreatic cancer SNP array 17952125 VEPH1 chr3 157027032 157054889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VEPH1 chr3 157027032 157054889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VEPH1 chr3 157052165 157422481 Amplification Breast cancer FISH 17142309 C3orf55,PTX3,VEPH1 chr3 157071019 157138215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VEPH1 chr3 157071019 157138215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VEPH1 chr3 157071159 157138201 Gain and loss Pancreatic cancer SNP array 17952125 VEPH1 chr3 157170000 157740000 Gain Breast cancer aCGH 21509527 C3orf55,VEPH1 chr3 157209286 157209362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VEPH1 chr3 157209294 157209370 Gain and loss Pancreatic cancer SNP array 17952125 VEPH1 chr3 157219241 157238169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VEPH1 chr3 157219249 157238177 Gain and loss Pancreatic cancer SNP array 17952125 VEPH1 chr3 157244661 157245451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 157293997 158213902 LOH Normal High-resolution SNP genotyping 21211785 C3orf55,RSRC1,SHOX2 chr3 157302924 157322363 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C3orf55 chr3 157321066 170967793 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 ACTRT3,ARL14,B3GALNT1,BCHE,C3orf80,CLDN11,EGFEM1P,EIF5A2,GFM1,GOLIM4,GPR160,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KPNA4,LOC100128164,LOC646168,LOC647107,LRRC31,LRRC34,LRRIQ4,LXN,MECOM,MFSD1,MIR15B,MIR16-2,MIR3919,MIR551B,MIR569,MLF1,MYNN,NMD3,OTOL1,PDCD10,PHC3,PPM1L,PRKCI,RARRES1,RPL22L1,RSRC1,SAMD7,SCARNA7,SCHIP1,SEC62,SERPINI1,SERPINI2,SHOX2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SMC4,SPTSSB,TERC,TNIK,TRIM59,WDR49,ZBBX chr3 157321095 157739621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 157321095 157739621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 157321103 157739245 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 157327750 157327850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 157376335 157377402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 157388224 157389224 Loss Chordoma References 21215367 NOT_FOUND chr3 157415489 157415586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 157434139 157434239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 157494827 157494916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 157513052 157513147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 157517341 157784018 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 157517341 159870181 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GFM1,IL12A,IQCJ,IQCJ-SCHIP1,LXN,MFSD1,MIR3919,MLF1,RARRES1,RSRC1,SCHIP1,SHOX2 chr3 157518708 157552941 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 15755026 15755288 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD28 chr3 15755026 15755319 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD28 chr3 15755026 15755319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD28 chr3 157573001 157578400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 157574746 157576258 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 157574858 157576374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 157574862 157575007 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 157574863 157576379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 157575303 157575366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 15761901 15964300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ANKRD28,MIR563 chr3 157638510 157638610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 157680926 157681013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 157696443 157696543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 157741239 157755629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 157741239 157755629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 157741247 157755637 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 157751761 157752761 Gain Chordoma References 21215367 NOT_FOUND chr3 157798743 157798823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 15783275 15783375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANKRD28 chr3 157875072 157907228 Gain or loss Breast cancer - 20668451 RSRC1 chr3 157875072 157907228 Gain or loss Cancer - 20668451 RSRC1 chr3 157875072 157907228 Gain or loss Lung cancer - 20668451 RSRC1 chr3 157875072 157907228 Gain or loss Ovarian cancer - 20668451 RSRC1 chr3 157875072 157907228 Gain or loss Pancreas cancer - 20668451 RSRC1 chr3 157875072 157907228 Gain or loss Prostate cancer - 20668451 RSRC1 chr3 157875073 157907223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 157875073 157907223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 157875100 157907257 Gain and loss Pancreatic cancer SNP array 17952125 RSRC1 chr3 157875443 196768563 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,APOD,ARL14,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,C3orf43,C3orf65,C3orf70,C3orf80,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,GFM1,GHSR,GMNC,GNB4,GOLIM4,GP5,GPR160,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IL12A,IL1RAP,IQCJ,IQCJ-SCHIP1,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEPREL1,LINC00578,LIPH,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC253573,LOC344887,LOC401109,LOC646168,LOC647107,LOC647323,LPP,LPP-AS2,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,LXN,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MECOM,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR551B,MIR569,MIR5692C1,MIR570,MIR944,MLF1,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PHC3,PIGX,PIGZ,PIK3CA,PLD1,POLR2H,PPM1L,PPP1R2,PRKCI,PSMD2,PYDC2,RARRES1,RFC4,RNF168,RPL22L1,RPL39L,RSRC1,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SENP2,SENP5,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC51A,SLC7A14,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM59,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR49,WDR53,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZMAT3,ZNF639 chr3 157914375 157915419 Gain and loss Pancreatic cancer SNP array 17952125 RSRC1 chr3 157915142 157915411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 157963032 157963132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSRC1 chr3 158001574 158001674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSRC1 chr3 158006190 158006261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSRC1 chr3 158010034 158011215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 158010034 158011215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 158010042 158011223 Gain and loss Pancreatic cancer SNP array 17952125 RSRC1 chr3 158026243 158027243 Gain Chordoma References 21215367 RSRC1 chr3 158026778 158028151 Gain and loss Pancreatic cancer SNP array 17952125 RSRC1 chr3 158026790 158246612 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RSRC1 chr3 158026790 158246612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 158026790 158246612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 158026842 158125738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 158026842 158125738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 158101087 158101187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSRC1 chr3 158187804 158187904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSRC1 chr3 1 581900 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHL1 chr3 158193572 158246241 Gain and loss Pancreatic cancer SNP array 17952125 RSRC1 chr3 15819791 15821719 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ANKRD28 chr3 15820175 15821740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANKRD28 chr3 158217825 158218169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RSRC1 chr3 158217833 158218080 Gain and loss Pancreatic cancer SNP array 17952125 RSRC1 chr3 158217833 158218173 Gain and loss Pancreatic cancer SNP array 17952125 RSRC1 chr3 158244820 158244892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSRC1 chr3 158244915 158245008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RSRC1 chr3 158289900 158289988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLF1 chr3 158290421 158290506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLF1 chr3 158346990 158361176 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 158346990 158361176 Gain or loss Cancer - 20668451 NOT_FOUND chr3 158346990 158361176 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 158346990 158361176 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 158346990 158361176 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 158346990 158361176 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 158346990 158361176 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 158348279 158361176 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 158348279 158361176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 158348279 158361176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 158348287 158361184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 158352687 158353985 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 158354031 158354123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 158354039 158354126 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 158354039 158354130 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 158363154 158364423 Gain and loss Pancreatic cancer SNP array 17952125 GFM1 chr3 158374399 158374523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFM1 chr3 158374401 158374523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GFM1 chr3 158374407 158374531 Gain and loss Pancreatic cancer SNP array 17952125 GFM1 chr3 158380000 159660000 Gain Breast cancer aCGH 21509527 GFM1,IQCJ,IQCJ-SCHIP1,LXN,MFSD1,MIR3919,RARRES1,SCHIP1 chr3 158392968 158394275 Gain and loss Pancreatic cancer SNP array 17952125 GFM1 chr3 158403723 158949320 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GFM1,IQCJ,IQCJ-SCHIP1,MFSD1,RARRES1 chr3 158447310 158457801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RARRES1 chr3 158460228 158703830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MFSD1 chr3 158460228 158703830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFSD1 chr3 158460228 158704057 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MFSD1 chr3 158460236 158703838 Gain and loss Pancreatic cancer SNP array 17952125 MFSD1 chr3 158524792 158525792 Loss Chordoma References 21215367 MFSD1 chr3 158544748 158545285 Gain and loss Pancreatic cancer SNP array 17952125 MFSD1 chr3 158572868 158737386 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 158635856 158951678 Copy number Lung cancer paired-end sequencing 18438408 IQCJ,IQCJ-SCHIP1 chr3 158637273 158644111 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 158637301 158644070 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 158637301 158644070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 158637301 158644070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 158637309 158644078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 158653706 158653763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 158683535 158692036 Loss Normal 244K array 17666407 NOT_FOUND chr3 158709007 158712270 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 158743860 158779237 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 158743860 158779237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 158743860 158779237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 158743888 158801721 Gain and loss Pancreatic cancer SNP array 17952125 IQCJ,IQCJ-SCHIP1 chr3 158744041 158744141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 158801168 158830357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IQCJ,IQCJ-SCHIP1 chr3 158802440 158802540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ,IQCJ-SCHIP1 chr3 158837854 158837954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ,IQCJ-SCHIP1 chr3 15890282 15890360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD28 chr3 158926146 158926221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ,IQCJ-SCHIP1 chr3 158939610 158939698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ,IQCJ-SCHIP1 chr3 15894642 15895842 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD28 chr3 158963335 158963398 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IQCJ,IQCJ-SCHIP1 chr3 158965854 163998224 Copy number Lung cancer paired-end sequencing 18438408 ARL14,B3GALNT1,C3orf80,IFT80,IL12A,IQCJ,IQCJ-SCHIP1,KPNA4,LOC647107,MIR15B,MIR16-2,MIR3919,NMD3,OTOL1,PPM1L,SCARNA7,SCHIP1,SMC4,SPTSSB,TRIM59 chr3 158987767 158988767 Loss Chordoma References 21215367 IQCJ-SCHIP1 chr3 158997296 159476020 Allelic imbalance Normal High-resolution SNP genotyping 21211785 IQCJ-SCHIP1,MIR3919,SCHIP1 chr3 159000000 160700000 Copy number Effusion lymphoma Real-time QPCR 18079361 ARL14,C3orf80,IFT80,IL12A,IQCJ-SCHIP1,KPNA4,MIR15B,MIR16-2,MIR3919,PPM1L,SCARNA7,SCHIP1,SMC4,TRIM59 chr3 159000000 187900000 Gain Prostate cancer Array CGH 16573809 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ARL14,ATP11B,B3GALNT1,B3GNT5,BCHE,BCL6,C3orf65,C3orf70,C3orf80,CAMK2N2,CCDC39,CHRD,CLCN2,CLDN11,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,GOLIM4,GPR160,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IL12A,IQCJ-SCHIP1,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LINC00578,LIPH,LOC100128164,LOC100131635,LOC100505687,LOC253573,LOC344887,LOC646168,LOC647107,LPP,LPP-AS2,LRRC31,LRRC34,LRRIQ4,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MECOM,MFN1,MIR1224,MIR1248,MIR15B,MIR16-2,MIR3919,MIR4789,MIR551B,MIR569,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,NMD3,OTOL1,PARL,PDCD10,PEX5L,PHC3,PIK3CA,PLD1,POLR2H,PPM1L,PRKCI,PSMD2,RFC4,RPL22L1,RPL39L,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SEC62,SENP2,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SMC4,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SST,ST6GAL1,TBCCD1,TBL1XR1,TERC,THPO,TMEM212,TMEM41A,TNFSF10,TNIK,TRA2B,TRIM59,TTC14,USP13,VPS8,VWA5B2,WDR49,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 159027188 159027288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ-SCHIP1,SCHIP1 chr3 159043459 160618067 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL14,C3orf80,IFT80,IL12A,IQCJ-SCHIP1,KPNA4,MIR15B,MIR16-2,PPM1L,SCARNA7,SCHIP1,SMC4,TRIM59 chr3 159061968 159717809 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-407K arrays 21546498 IL12A,IQCJ-SCHIP1,SCHIP1 chr3 159064466 160073134 LOH Normal High-resolution SNP genotyping 21211785 C3orf80,IFT80,IL12A,IQCJ-SCHIP1,SCHIP1 chr3 159076266 159076351 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IQCJ-SCHIP1,SCHIP1 chr3 159131006 159131208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQCJ-SCHIP1,SCHIP1 chr3 159131014 159131216 Gain and loss Pancreatic cancer SNP array 17952125 IQCJ-SCHIP1,SCHIP1 chr3 159140917 198570019 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ARL14,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,C3orf43,C3orf65,C3orf70,C3orf80,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GHSR,GMNC,GNB4,GOLIM4,GP5,GPR160,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IFT80,IGF2BP2,IL12A,IL1RAP,IQCG,IQCJ-SCHIP1,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,KPNA4,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC646168,LOC647107,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MECOM,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR15B,MIR16-2,MIR4789,MIR4797,MIR551B,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PHC3,PIGX,PIGZ,PIK3CA,PLD1,POLR2H,PPM1L,PPP1R2,PRKCI,PSMD2,PYDC2,RFC4,RNF168,RPL22L1,RPL35A,RPL39L,RTP1,RTP2,RTP4,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC62,SENP2,SENP5,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC51A,SLC7A14,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TRIM59,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR49,WDR53,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZMAT3,ZNF639 chr3 159187601 159541800 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQCJ-SCHIP1,SCHIP1 chr3 159241400 159241500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ-SCHIP1,SCHIP1 chr3 159291860 160422712 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 ARL14,C3orf80,IFT80,IL12A,IQCJ-SCHIP1,KPNA4,MIR15B,MIR16-2,SCARNA7,SCHIP1,SMC4,TRIM59 chr3 159296494 159306630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQCJ-SCHIP1,SCHIP1 chr3 159296494 159306630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQCJ-SCHIP1,SCHIP1 chr3 159298518 159306541 Gain and loss Pancreatic cancer SNP array 17952125 IQCJ-SCHIP1,SCHIP1 chr3 159310555 159745268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL12A,IQCJ-SCHIP1,SCHIP1 chr3 159310555 159745268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL12A,IQCJ-SCHIP1,SCHIP1 chr3 159310594 159745276 Gain and loss Pancreatic cancer SNP array 17952125 IL12A,IQCJ-SCHIP1,SCHIP1 chr3 159314947 159315126 Gain and loss Pancreatic cancer SNP array 17952125 IQCJ-SCHIP1,SCHIP1 chr3 159406078 159430267 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 IQCJ-SCHIP1,SCHIP1 chr3 159480989 159481089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ-SCHIP1,SCHIP1 chr3 159486158 159486248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ-SCHIP1,SCHIP1 chr3 159488917 159503072 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 IQCJ-SCHIP1,SCHIP1 chr3 159533729 159534881 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 IQCJ-SCHIP1,SCHIP1 chr3 159535309 159535409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCJ-SCHIP1,SCHIP1 chr3 159560501 159562000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IQCJ-SCHIP1,SCHIP1 chr3 159597701 159601900 Deletion Glioma mate-paired sequence 20126413 IQCJ-SCHIP1,SCHIP1 chr3 159599596 159599938 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IQCJ-SCHIP1,SCHIP1 chr3 159609955 159644103 Amplification or deletion Cancer Array CGH 17440070 IQCJ-SCHIP1,SCHIP1 chr3 15964301 16571500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DPH3,GALNTL2,OXNAD1,RFTN1 chr3 159670496 159670596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 159743918 159743967 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 159758323 159758423 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 159770225 159770980 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 159771676 159805877 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 159771676 159805877 Gain or loss Cancer - 20668451 NOT_FOUND chr3 159771676 159805877 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 159771676 159805877 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 159771676 159805877 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 159771676 159805877 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 159771677 159805875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 159771685 159807721 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 159820101 160983900 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARL14,B3GALNT1,C3orf80,IFT80,KPNA4,MIR15B,MIR16-2,NMD3,PPM1L,SCARNA7,SMC4,TRIM59 chr3 159833434 159834605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 159845011 159893055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 159845011 159893055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 159845019 159893063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 159866900 159873176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 159866900 159873176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 159866908 159873184 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 159868044 159868115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 159876217 162162404 Gain Bladder cancer array-CGH 21909424 ARL14,B3GALNT1,C3orf80,IFT80,KPNA4,MIR15B,MIR16-2,NMD3,OTOL1,PPM1L,SCARNA7,SMC4,SPTSSB,TRIM59 chr3 159879945 159880034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 159897591 159932969 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 159897597 159932969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 159897597 159932969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 159897605 159932977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 159900000 161200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL14,B3GALNT1,C3orf80,IFT80,KPNA4,MIR15B,MIR16-2,NMD3,PPM1L,SCARNA7,SMC4,SPTSSB,TRIM59 chr3 159905133 159932969 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 159940900 159943998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf80 chr3 159942863 159943374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 159963393 160451921 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARL14,IFT80,KPNA4,MIR15B,MIR16-2,SCARNA7,SMC4,TRIM59 chr3 160002585 160030206 Gain and loss Pancreatic cancer SNP array 17952125 IFT80 chr3 160002606 160030198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IFT80 chr3 160002606 160030198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IFT80 chr3 160041597 160042506 Gain and loss Pancreatic cancer SNP array 17952125 IFT80 chr3 160072668 160072773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IFT80 chr3 160105332 160105432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IFT80 chr3 160269807 160466186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL14,KPNA4 chr3 160269810 161097833 Deletion Intellectual disability 100k SNP Array 21811512 ARL14,B3GALNT1,KPNA4,NMD3,PPM1L,SPTSSB chr3 160380891 160383392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 160446334 160463183 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 160474304 161097816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 B3GALNT1,NMD3,PPM1L,SPTSSB chr3 160474304 161097816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 B3GALNT1,NMD3,PPM1L,SPTSSB chr3 160474312 161097265 Gain and loss Pancreatic cancer SNP array 17952125 B3GALNT1,NMD3,PPM1L,SPTSSB chr3 160518390 160518671 Gain and loss Pancreatic cancer SNP array 17952125 PPM1L chr3 160555509 161568749 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 B3GALNT1,NMD3,OTOL1,PPM1L,SPTSSB chr3 160620000 162140000 Loss Acute lymphoblastic leukemia - 21339820 B3GALNT1,NMD3,OTOL1,PPM1L,SPTSSB chr3 160637861 160670837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPM1L chr3 160663270 160666137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPM1L chr3 160685649 161388203 LOH Normal High-resolution SNP genotyping 21211785 B3GALNT1,NMD3,OTOL1,PPM1L,SPTSSB chr3 160686973 160687073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1L chr3 160700000 167600000 Copy number Malformation Illumina Infinium II HumanHap550 BeadChip 19546859 B3GALNT1,BCHE,LOC647107,NMD3,OTOL1,PDCD10,PPM1L,SERPINI1,SERPINI2,SI,SLITRK3,SPTSSB,WDR49,ZBBX chr3 160700000 167600000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 B3GALNT1,BCHE,LOC647107,NMD3,OTOL1,PDCD10,PPM1L,SERPINI1,SERPINI2,SI,SLITRK3,SPTSSB,WDR49,ZBBX chr3 160700000 167600000 Gain Sudden cardiac death CGH 19188705 B3GALNT1,BCHE,LOC647107,NMD3,OTOL1,PDCD10,PPM1L,SERPINI1,SERPINI2,SI,SLITRK3,SPTSSB,WDR49,ZBBX chr3 160700000 167600000 Loss Mantle cell lymphoma Array CGH 19029149 B3GALNT1,BCHE,LOC647107,NMD3,OTOL1,PDCD10,PPM1L,SERPINI1,SERPINI2,SI,SLITRK3,SPTSSB,WDR49,ZBBX chr3 160700000 198022430 Gain Breast cancer Microarray-based CGH 17133270 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GALNT1,B3GNT5,BCHE,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GHSR,GMNC,GNB4,GOLIM4,GP5,GPR160,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC646168,LOC647107,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MECOM,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR4797,MIR551B,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,NMD3,OPA1,OPA1-AS1,OSTN,OTOL1,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PHC3,PIGX,PIGZ,PIK3CA,PLD1,POLR2H,PPM1L,PPP1R2,PRKCI,PSMD2,PYDC2,RFC4,RNF168,RPL22L1,RPL35A,RPL39L,RTP1,RTP2,RTP4,SAMD7,SDHAP1,SDHAP2,SEC62,SENP2,SENP5,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC51A,SLC7A14,SLITRK3,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SPTSSB,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR49,WDR53,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZMAT3,ZNF639 chr3 160739588 160740563 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PPM1L chr3 160739714 160740336 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PPM1L chr3 160739716 160740383 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPM1L chr3 160767606 160767705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPM1L chr3 160845234 160878720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 160864819 160897615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 160911680 160911878 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 160922180 160922632 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 160930608 161568749 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NMD3,OTOL1,SPTSSB chr3 160944046 160946126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NMD3 chr3 160944101 160946094 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NMD3 chr3 160949046 160949078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NMD3 chr3 160975190 160995953 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 160983901 161414000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OTOL1,SPTSSB chr3 161008977 161009053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161008985 161009061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161022596 161056668 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 161031836 161031916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161052060 161052139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161068999 161069161 Gain and loss Pancreatic cancer SNP array 17952125 SPTSSB chr3 161095223 161140482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 161097026 161130265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 161134419 161134519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161189323 161196499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161189323 161196499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161189331 161196507 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161189659 161189759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161200000 169200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCHE,EGFEM1P,GOLIM4,LOC646168,LOC647107,MECOM,MIR551B,OTOL1,PDCD10,SERPINI1,SERPINI2,SI,SLITRK3,WDR49,ZBBX chr3 161200000 169200000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 BCHE,EGFEM1P,GOLIM4,LOC646168,LOC647107,MECOM,MIR551B,OTOL1,PDCD10,SERPINI1,SERPINI2,SI,SLITRK3,WDR49,ZBBX chr3 161200000 169200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BCHE,EGFEM1P,GOLIM4,LOC646168,LOC647107,MECOM,MIR551B,OTOL1,PDCD10,SERPINI1,SERPINI2,SI,SLITRK3,WDR49,ZBBX chr3 161200000 169200000 Gain Barrett's adenocarcinoma FISH 18663352 BCHE,EGFEM1P,GOLIM4,LOC646168,LOC647107,MECOM,MIR551B,OTOL1,PDCD10,SERPINI1,SERPINI2,SI,SLITRK3,WDR49,ZBBX chr3 161200000 184200000 Copy number epilepsy - 18472482 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ALG3,AP2M1,ATP11B,B3GNT5,BCHE,CAMK2N2,CCDC39,CHRD,CLCN2,CLDN11,DCUN1D1,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EIF2B5,EIF4G1,EIF5A2,FAM131A,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,GOLIM4,GPR160,HTR3C,HTR3D,HTR3E,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,LAMP3,LINC00578,LOC100128164,LOC100505687,LOC646168,LOC647107,LRRC31,LRRC34,LRRIQ4,MAP6D1,MCCC1,MCF2L2,MECOM,MFN1,MIR1224,MIR4789,MIR551B,MIR569,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,OTOL1,PARL,PDCD10,PEX5L,PHC3,PIK3CA,PLD1,POLR2H,PRKCI,PSMD2,RPL22L1,SAMD7,SEC62,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SNORD66,SOX2,SOX2-OT,SPATA16,TBL1XR1,TERC,THPO,TMEM212,TNFSF10,TNIK,TTC14,USP13,VWA5B2,WDR49,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 161200000 184200000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ALG3,AP2M1,ATP11B,B3GNT5,BCHE,CAMK2N2,CCDC39,CHRD,CLCN2,CLDN11,DCUN1D1,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EIF2B5,EIF4G1,EIF5A2,FAM131A,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,GOLIM4,GPR160,HTR3C,HTR3D,HTR3E,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,LAMP3,LINC00578,LOC100128164,LOC100505687,LOC646168,LOC647107,LRRC31,LRRC34,LRRIQ4,MAP6D1,MCCC1,MCF2L2,MECOM,MFN1,MIR1224,MIR4789,MIR551B,MIR569,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,OTOL1,PARL,PDCD10,PEX5L,PHC3,PIK3CA,PLD1,POLR2H,PRKCI,PSMD2,RPL22L1,SAMD7,SEC62,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SNORD66,SOX2,SOX2-OT,SPATA16,TBL1XR1,TERC,THPO,TMEM212,TNFSF10,TNIK,TTC14,USP13,VWA5B2,WDR49,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 161200000 184200000 Loss Myxofibrosarcoma Array CGH 16751306 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ALG3,AP2M1,ATP11B,B3GNT5,BCHE,CAMK2N2,CCDC39,CHRD,CLCN2,CLDN11,DCUN1D1,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EIF2B5,EIF4G1,EIF5A2,FAM131A,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,GOLIM4,GPR160,HTR3C,HTR3D,HTR3E,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,LAMP3,LINC00578,LOC100128164,LOC100505687,LOC646168,LOC647107,LRRC31,LRRC34,LRRIQ4,MAP6D1,MCCC1,MCF2L2,MECOM,MFN1,MIR1224,MIR4789,MIR551B,MIR569,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,OTOL1,PARL,PDCD10,PEX5L,PHC3,PIK3CA,PLD1,POLR2H,PRKCI,PSMD2,RPL22L1,SAMD7,SEC62,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SNORD66,SOX2,SOX2-OT,SPATA16,TBL1XR1,TERC,THPO,TMEM212,TNFSF10,TNIK,TTC14,USP13,VWA5B2,WDR49,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 161200000 193800000 Copy number Parkinson disease Quantitative PCR 21907011 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ATP11B,ATP13A4,ATP13A5,B3GNT5,BCHE,BCL6,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FETUB,FGF12,FLJ42393,FLJ46066,FNDC3B,FXR1,GHSR,GMNC,GNB4,GOLIM4,GPR160,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LOC100128023,LOC100128164,LOC100131635,LOC100505687,LOC253573,LOC344887,LOC646168,LOC647107,LOC647323,LPP,LPP-AS2,LRRC31,LRRC34,LRRIQ4,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MECOM,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR551B,MIR569,MIR944,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,OPA1,OPA1-AS1,OSTN,OTOL1,PARL,PDCD10,PEX5L,PHC3,PIK3CA,PLD1,POLR2H,PRKCI,PSMD2,PYDC2,RFC4,RPL22L1,RPL39L,RTP1,RTP2,RTP4,SAMD7,SEC62,SENP2,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,TERC,THPO,TMEM207,TMEM212,TMEM41A,TNFSF10,TNIK,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,USP13,UTS2D,VPS8,VWA5B2,WDR49,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 161218252 162062250 LOH Normal High-resolution SNP genotyping 21211785 OTOL1 chr3 161224505 161224605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161240620 161894206 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 161241063 161241163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1612458 1612929 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1612458 1612929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161283341 161298462 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 161301172 161303355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161301196 161303399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161314457 161314557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161414001 162223600 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 161415688 161415788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161426323 161428693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161426323 161428693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161426331 161428701 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161426501 161427500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 161427366 162942277 LOH Normal High-resolution SNP genotyping 21211785 LOC647107 chr3 161435303 162677221 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 161457490 161600022 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161457497 161600014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161457497 161600014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161483650 161483750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161542293 161542393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161544861 161544961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161582067 161582167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161599844 161599924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161600124 161635433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161600124 161635433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161600124 161635435 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 161600132 161635432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161605070 161605167 Deletion Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr3 161605070 161605167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161605078 161605175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161605227 161605307 Deletion Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr3 161605227 161605307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161605228 161605322 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161605235 161605315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161620175 161620275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161635984 161650320 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 161635984 161650320 Gain or loss Cancer - 20668451 NOT_FOUND chr3 161635984 161650320 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 161635984 161650320 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 161635984 161650320 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 161635984 161650320 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 161635986 161650320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161635986 161650320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161637915 161650328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161650001 161654000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 161653362 161653808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161660501 161661500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 161672836 161672907 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161686826 161686926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161700656 161766070 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 161700658 161766070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161700658 161766070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161700666 161766078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161715397 161715726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161731067 161731167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161733582 163328038 LOH Normal High-resolution SNP genotyping 21211785 LOC647107 chr3 161742587 161742887 Gain Chordoma References 21215367 NOT_FOUND chr3 161765001 161774000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 161767550 161812726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 161774001 161775000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 161777910 162861028 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 161812795 161813795 Gain Chordoma References 21215367 NOT_FOUND chr3 161824709 161824809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 161839634 161839881 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 161839881 161841803 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 161841803 161844979 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 161877641 161878927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161877641 161878927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161877649 161878935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161884584 162876199 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 161894206 161944551 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 161897411 161897542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161897419 161897550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 16191160 16245151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNTL2 chr3 16191160 16245151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNTL2 chr3 16191160 16247859 Gain and loss Pancreatic cancer SNP array 17952125 GALNTL2 chr3 161918921 161919005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161918929 161919013 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 161919022 162980048 LOH Normal High-resolution SNP genotyping 21211785 LOC647107 chr3 161920001 161921000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 161934828 162698325 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 161955001 161957500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 161956689 162271511 Copy number Lung cancer - 20668451 NOT_FOUND chr3 161956689 162271511 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 161956689 162271511 Gain or loss Cancer - 20668451 NOT_FOUND chr3 161956689 162271511 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 161956689 162271511 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 161956689 162271511 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 161956689 162271511 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 161956791 162271511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161956791 162271511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 161994519 161994584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162003831 162003982 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 162014671 162014771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162023616 162023716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162037940 162085818 Gain Normal 244K array 17666407 NOT_FOUND chr3 162122911 162820402 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 16212601 16218000 Deletion Glioma mate-paired sequence 20126413 GALNTL2 chr3 16214068 16216316 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 GALNTL2 chr3 16214126 16216320 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GALNTL2 chr3 16214413 16216213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNTL2 chr3 16216012 16216112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162210788 162210888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162223601 162932000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC647107 chr3 162259099 162259344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162260291 162260388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162262042 162980048 LOH Normal High-resolution SNP genotyping 21211785 LOC647107 chr3 162265703 162271518 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 162284365 162305854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162284365 162305854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162284373 162305862 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 162337436 162369536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 162351081 162352892 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 16235726 16235826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL2 chr3 162421792 162454013 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 162421793 162452489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162421793 162452489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162421801 162452497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 162425422 164314793 Gain Bladder cancer array-CGH 21909424 LOC647107 chr3 162491470 162492470 Loss Chordoma References 21215367 NOT_FOUND chr3 162501242 162546577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 162542456 165186095 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC647107,SI,SLITRK3 chr3 162545283 162572442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162545283 162572442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162545283 162573362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162546583 162546813 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 162572531 162573223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 162575365 162575465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162623458 162960048 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC647107 chr3 162629609 162630079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162629609 162630079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162629617 162630087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 162637575 162637607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162669666 162669747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162669674 162669755 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 162696267 165186095 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC647107,SI,SLITRK3 chr3 162697290 162704424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162697290 162704424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 162697562 162704408 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 162717129 162717309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 162729407 162729741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 16274496 16281453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 16276969 16281490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 16276969 16281490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 16281718 16322597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DPH3,OXNAD1 chr3 16281718 16322597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DPH3,OXNAD1 chr3 16281744 16320112 Gain and loss Pancreatic cancer SNP array 17952125 DPH3,OXNAD1 chr3 162932001 170673800 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACTRT3,BCHE,CLDN11,EGFEM1P,EIF5A2,GOLIM4,GPR160,LOC100128164,LOC646168,LOC647107,LRRC31,LRRC34,LRRIQ4,MECOM,MIR551B,MYNN,PDCD10,PHC3,PRKCI,RPL22L1,SAMD7,SEC62,SERPINI1,SERPINI2,SI,SKIL,SLC7A14,SLITRK3,TERC,WDR49,ZBBX chr3 162932695 163076472 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC647107 chr3 162932695 163076472 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC647107 chr3 162992502 162992565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC647107 chr3 163006245 163779238 LOH Normal High-resolution SNP genotyping 21211785 LOC647107 chr3 163006245 163792471 LOH Normal High-resolution SNP genotyping 21211785 LOC647107 chr3 163008792 164736724 LOH Normal High-resolution SNP genotyping 21211785 LOC647107,SI chr3 163029578 163029658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163032139 163747639 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163087719 163087958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 163087768 163087965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 163105791 165054849 Deletion Glioblastoma multiforme 244K oligo array 21138945 SI,SLITRK3 chr3 163118183 163118362 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 163118206 163118385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 16321151 16321218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OXNAD1 chr3 163300761 163300937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 163319571 163993944 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163319571 164105350 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 16332357 16530226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OXNAD1,RFTN1 chr3 16332357 16530226 Gain and loss Pancreatic cancer SNP array 17952125 OXNAD1,RFTN1 chr3 16332357 16530226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OXNAD1,RFTN1 chr3 163345343 163345433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163353922 163438354 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163473630 170723399 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ACTRT3,BCHE,CLDN11,EGFEM1P,EIF5A2,GOLIM4,GPR160,LOC100128164,LOC646168,LRRC31,LRRC34,LRRIQ4,MECOM,MIR551B,MYNN,PDCD10,PHC3,PRKCI,RPL22L1,SAMD7,SEC62,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,TERC,WDR49,ZBBX chr3 163547822 163547922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163571000 173171000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ACTRT3,BCHE,CLDN11,ECT2,EGFEM1P,EIF5A2,FNDC3B,GHSR,GOLIM4,GPR160,LOC100128164,LOC646168,LRRC31,LRRC34,LRRIQ4,MECOM,MIR551B,MIR569,MYNN,NCEH1,NLGN1,PDCD10,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SPATA16,TERC,TMEM212,TNFSF10,TNIK,WDR49,ZBBX chr3 163606048 163627220 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163613036 163631469 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163620282 163638854 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163679130 163688982 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 163696400 163718289 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 163699311 163709515 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr3 163699323 163709653 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 1 63700000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 1 63700000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 163709111 163709213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163709249 163709390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163731233 163731333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163738319 163767708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 163789312 163789395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163836478 164200540 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163890991 163891306 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 163890991 163891306 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr3 163921237 163921292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163931660 163932529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 163941201 164138371 Loss Oral cancer 105K CGH oligonucleotide array 21386901 NOT_FOUND chr3 163942537 163942637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163946868 164329124 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr3 163953751 164225496 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 163953896 164237676 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr3 163962355 164117434 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 163966946 163967046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 163970375 163978603 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 163973176 164106579 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163977303 164099992 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163977303 164105350 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163977303 164108951 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163977303 164200540 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163977466 164291801 Copy number Alcoholism Illumina Human Hap661W-Quad BeadChip 21790672 NOT_FOUND chr3 163977466 164291801 Copy number Normal - 21790672 NOT_FOUND chr3 163978363 164132599 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163982137 164049199 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163982137 164099992 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163982137 164105350 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163982137 164108951 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163985804 164098597 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163986977 164108677 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163986977 164109285 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163987600 164133382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 163988819 164121763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 163990860 164098597 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163990860 164108677 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163990886 164111308 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163990950 164108677 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163990950 164109254 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163990950 164109285 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163990951 164109253 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 163990962 164106591 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163990962 164108674 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163990962 164108689 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163990962 164109266 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163990962 164109297 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163991001 164137289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 163991245 164108951 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163991245 164108951 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163991245 165415213 Copy number gain Normal High-resolution SNP genotyping 21211785 SI,SLITRK3 chr3 163991649 164115393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 163993944 164099992 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163993944 164105350 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163993944 164105350 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163993944 164105350 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163993944 164108951 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163993944 164108951 High copy gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163993944 164108951 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163993944 164108951 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163993971 164104899 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 163994545 164110544 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr3 163994828 164109030 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 163994833 164008401 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 163994833 164109307 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 163994833 164109307 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 163995001 164028000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 163995339 164007540 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995339 164098597 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164098597 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164098597 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995339 164106579 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164106579 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164106579 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995339 164108662 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164108662 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164108677 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995339 164108677 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164108677 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164108677 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995339 164109254 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164109254 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995339 164109285 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164109285 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164109285 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995339 164111296 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995339 164111481 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995351 164106575 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 163995351 164106575 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 163995351 164108674 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995351 164108689 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995351 164109266 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995351 164109297 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995351 164109297 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 NOT_FOUND chr3 163995351 164111308 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995421 164108677 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995774 164098597 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995774 164098597 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995774 164098597 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995774 164108662 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995774 164108662 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995774 164108677 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995774 164108677 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995774 164109285 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995774 164109285 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995786 164108689 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995786 164109297 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995794 164108988 Loss or gain Normal 244K array 17666407 NOT_FOUND chr3 163995831 164028911 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995831 164098597 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995831 164098597 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995831 164098597 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995831 164098597 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995831 164106579 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995831 164106579 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995831 164108677 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995831 164108677 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995831 164108677 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 163995831 164109285 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163995843 164098609 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995843 164109297 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 163995913 164108951 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163995913 164108951 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163995913 164108951 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 163996141 164098597 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163996141 164098597 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163996141 164106579 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163996141 164108677 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163996141 164108677 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 163996489 164111761 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr3 163997028 164101976 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 NOT_FOUND chr3 163997028 164108151 Copy number Incontinentia Pigmenti Agilent SurePrint G21 one Million microarrays 22033527 NOT_FOUND chr3 163997228 164101776 Deletion Rett syndrome References 21593744 NOT_FOUND chr3 163997228 164101835 Loss Urothelial carcinoma array CGH validated by FISH 21177765 NOT_FOUND chr3 163998941 164108662 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 16400000 23900000 Gain or loss Esophageal squamous carcinoma Array CGH 17470683 DAZL,EFHB,KAT2B,KCNH8,LOC339862,MIR3714,MIR4791,MIR548AC,PLCL2,PP2D1,RAB5A,RFTN1,SATB1,SGOL1,SGOL1-AS1,TBC1D5,UBE2E1,UBE2E2,VENTXP7,ZNF385D chr3 16400000 30900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AZI2,CMC1,DAZL,EFHB,EOMES,GADL1,KAT2B,KCNH8,LOC152024,LOC285326,LOC339862,LOC644990,LOC645206,LRRC3B,MIR3714,MIR4442,MIR4791,MIR4792,MIR548AC,NEK10,NGLY1,NKIRAS1,NR1D2,OXSM,PLCL2,PP2D1,RAB5A,RARB,RBMS3,RFTN1,RPL15,SATB1,SGOL1,SGOL1-AS1,SLC4A7,TBC1D5,TGFBR2,THRB,TOP2B,UBE2E1,UBE2E2,VENTXP7,ZCWPW2,ZNF385D chr3 16400000 43700000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,AZI2,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DAZL,DCLK3,DLEC1,DYNC1LI1,EFHB,EIF1B,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GADL1,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KAT2B,KBTBD5,KCNH8,KRBOX1,LOC152024,LOC285326,LOC339862,LOC644990,LOC645206,LRRC3B,LRRFIP2,LYZL4,MIR128-2,MIR26A1,MIR3714,MIR4442,MIR4791,MIR4792,MIR548AC,MLH1,MOBP,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,OSBPL10,OSBPL10-AS1,OXSM,OXSR1,PDCD6IP,PLCD1,PLCL2,PP2D1,RAB5A,RARB,RBMS3,RFTN1,RPL14,RPL15,RPSA,SATB1,SCN10A,SCN11A,SCN5A,SEC22C,SGOL1,SGOL1-AS1,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,STT3B,SUSD5,TBC1D5,TGFBR2,THRB,TMPPE,TOP2B,TRAK1,TRANK1,TRIM71,TTC21A,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZCWPW2,ZNF385D,ZNF619,ZNF620,ZNF621,ZNF662,ZNF860 chr3 16400000 69800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARPP21,ASB14,ATRIP,ATXN7,AZI2,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL7A1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,DYNC1LI1,EFHB,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FBXL2,FBXW12,FEZF2,FHIT,FLJ33065,FLJ39534,FLNB,FRMD4B,FYCO1,GADL1,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRM2,GTDC2,HEMK1,HESX1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LMOD3,LOC100132146,LOC100287879,LOC100506994,LOC152024,LOC285326,LOC285401,LOC339862,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR564,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MST1,MST1R,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NRADDP,NT5DC2,OSBPL10,OSBPL10-AS1,OXSM,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPM1M,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD54L2,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPP14,RPSA,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SGOL1,SGOL1-AS1,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TTC21A,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 16400000 74200000 Loss Breast cancer Microarray-based CGH 17133270 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARPP21,ASB14,ATRIP,ATXN7,AZI2,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL7A1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,DYNC1LI1,EBLN2,EFHB,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FBXL2,FBXW12,FEZF2,FHIT,FLJ33065,FLJ39534,FLNB,FOXP1,FRMD4B,FYCO1,GADL1,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRM2,GTDC2,GXYLT2,HEMK1,HESX1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LMOD3,LOC100132146,LOC100287879,LOC100506994,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MIR1226,MIR128-2,MIR1284,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR564,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MST1,MST1R,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NRADDP,NT5DC2,OSBPL10,OSBPL10-AS1,OXSM,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD54L2,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SGOL1,SGOL1-AS1,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TTC21A,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 164001263 164108677 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164004033 164101579 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr3 164004033 164101579 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr3 164004033 164101579 Deletion Non-syndromic sensorineural hearing loss 370K1,370K2,610K 19587683 NOT_FOUND chr3 164004033 164101579 Loss Autism qPCR 20531469 NOT_FOUND chr3 164006501 164030600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 164007540 164109285 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 164011312 164023172 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164012346 164026644 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr3 164015632 164106579 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164028001 164030000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 164028398 164098597 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164028398 164106579 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164028398 164108677 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 164028911 164108677 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164030001 164091500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 164034750 164098389 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164034750 164098597 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164034750 164106579 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164034750 164108677 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 164041081 196803076 Copy number Lung cancer paired-end sequencing 18438408 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCHE,BCL6,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,GHSR,GMNC,GNB4,GOLIM4,GP5,GPR160,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC253573,LOC344887,LOC401109,LOC646168,LOC647323,LPP,LPP-AS2,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MECOM,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR551B,MIR569,MIR5692C1,MIR570,MIR944,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PDCD10,PEX5L,PHC3,PIGX,PIGZ,PIK3CA,PLD1,POLR2H,PPP1R2,PRKCI,PSMD2,PYDC2,RFC4,RNF168,RPL22L1,RPL39L,RTP1,RTP2,RTP4,SAMD7,SDHAP1,SDHAP2,SEC62,SENP2,SENP5,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC51A,SLC7A14,SLITRK3,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR49,WDR53,XXYLT1,YEATS2,ZBBX,ZDHHC19,ZMAT3,ZNF639 chr3 164046691 164101835 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr3 164054860 164221008 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 164060336 164060693 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 164091501 164093500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 164093501 164109000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 164106575 164109297 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 164108951 168575642 Copy number gain Normal High-resolution SNP genotyping 21211785 BCHE,EGFEM1P,GOLIM4,LOC646168,MIR551B,PDCD10,SERPINI1,SERPINI2,SI,SLITRK3,WDR49,ZBBX chr3 164108951 168771862 Copy number loss Normal High-resolution SNP genotyping 21211785 BCHE,EGFEM1P,GOLIM4,LOC646168,MIR551B,PDCD10,SERPINI1,SERPINI2,SI,SLITRK3,WDR49,ZBBX chr3 164108951 194359584 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCHE,BCL6,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,GHSR,GMNC,GNB4,GOLIM4,GP5,GPR160,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100505687,LOC253573,LOC344887,LOC646168,LOC647323,LPP,LPP-AS2,LRRC15,LRRC31,LRRC34,LRRIQ4,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MECOM,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR551B,MIR569,MIR944,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,OPA1,OPA1-AS1,OSTN,PARL,PDCD10,PEX5L,PHC3,PIK3CA,PLD1,POLR2H,PRKCI,PSMD2,PYDC2,RFC4,RPL22L1,RPL39L,RTP1,RTP2,RTP4,SAMD7,SEC62,SENP2,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,TERC,THPO,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,USP13,UTS2D,VPS8,VWA5B2,WDR49,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 164109819 176310015 Substitutions and indels small cell lung cancer array-CGH 20016488 ACTRT3,BCHE,CLDN11,ECT2,EGFEM1P,EIF5A2,FNDC3B,GHSR,GOLIM4,GPR160,LOC100128164,LOC646168,LRRC31,LRRC34,LRRIQ4,MECOM,MIR4789,MIR551B,MIR569,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NLGN1,PDCD10,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SERPINI1,SERPINI2,SI,SKIL,SLC2A2,SLC7A14,SLITRK3,SPATA16,TERC,TMEM212,TNFSF10,TNIK,WDR49,ZBBX chr3 164111308 164117009 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 164112237 164118773 Gain Normal 244K array 17666407 NOT_FOUND chr3 164134834 164180114 Gain Normal 244K array 17666407 NOT_FOUND chr3 164160617 164160717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 164173679 164173779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 164173818 164220338 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 164182019 164184246 Loss Normal 244K array 17666407 NOT_FOUND chr3 164184382 164187622 Gain Normal 244K array 17666407 NOT_FOUND chr3 164188416 164188516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 164194612 164209986 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 164197451 164225951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 164199891 164206698 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr3 164199891 164206698 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 164200023 164204911 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 164200118 164204863 Loss Normal 244K array 17666407 NOT_FOUND chr3 164200193 164206248 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 164237676 170310568 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTRT3,BCHE,CLDN11,EGFEM1P,GOLIM4,GPR160,LOC100128164,LOC646168,LRRC31,LRRC34,LRRIQ4,MECOM,MIR551B,MYNN,PDCD10,PHC3,PRKCI,SAMD7,SEC62,SERPINI1,SERPINI2,SI,SKIL,SLC7A14,SLITRK3,TERC,WDR49,ZBBX chr3 164244411 164271033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 164245601 164253600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 164246545 164252544 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr3 164247596 164251776 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 164247638 164251756 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 164268236 166725934 LOH Normal High-resolution SNP genotyping 21211785 BCHE,SI,SLITRK3 chr3 164339809 164428916 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 164353893 164353975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 164360375 164361375 Gain Chordoma References 21215367 NOT_FOUND chr3 164420972 164421972 Gain Chordoma References 21215367 NOT_FOUND chr3 164441830 164441930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 164510000 165390000 Loss Acute lymphoblastic leukemia - 21339820 SI,SLITRK3 chr3 164526528 164526628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 164538585 164728752 Copy number loss Normal High-resolution SNP genotyping 21211785 SI chr3 164568551 164588567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 164570910 164570982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 164583266 164587983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 164584590 164596447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 164585563 164592830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 164591947 164592947 Gain Chordoma References 21215367 NOT_FOUND chr3 164670695 164670757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 164685951 166616571 LOH Normal High-resolution SNP genotyping 21211785 BCHE,SI,SLITRK3 chr3 164716884 164716969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SI chr3 164728752 166195653 LOH Normal High-resolution SNP genotyping 21211785 BCHE,SI,SLITRK3 chr3 164761212 164761286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SI chr3 164824322 164824422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 164848772 166277893 LOH Normal High-resolution SNP genotyping 21211785 BCHE,SLITRK3 chr3 164848772 166435168 LOH Normal High-resolution SNP genotyping 21211785 BCHE,SLITRK3 chr3 164887884 164904802 Loss Normal 244K array 17666407 SLITRK3 chr3 164899337 164922953 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLITRK3 chr3 164946862 164947167 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 164959389 164994621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 165022731 166631415 LOH Normal High-resolution SNP genotyping 21211785 BCHE chr3 16502641 16502673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RFTN1 chr3 165085151 165392762 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 165088502 165088587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165146691 168295512 Copy number gain Normal High-resolution SNP genotyping 21211785 BCHE,EGFEM1P,GOLIM4,LOC646168,MIR551B,PDCD10,SERPINI1,SERPINI2,WDR49,ZBBX chr3 165147241 165147341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165170961 165171061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165202079 165202974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 165250428 165329628 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr3 165298261 165401615 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 16533338 16533430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RFTN1 chr3 165341178 191989176 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ATP11B,B3GNT5,BCHE,BCL6,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EGFEM1P,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FETUB,FGF12,FLJ42393,FLJ46066,FNDC3B,FXR1,GHSR,GMNC,GNB4,GOLIM4,GPR160,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LOC100128164,LOC100131635,LOC100505687,LOC253573,LOC344887,LOC646168,LPP,LPP-AS2,LRRC31,LRRC34,LRRIQ4,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MECOM,MFN1,MIR1224,MIR1248,MIR4789,MIR551B,MIR569,MIR944,MRPL47,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,OSTN,PARL,PDCD10,PEX5L,PHC3,PIK3CA,PLD1,POLR2H,PRKCI,PSMD2,PYDC2,RFC4,RPL22L1,RPL39L,RTP1,RTP2,RTP4,SAMD7,SEC62,SENP2,SERPINI1,SERPINI2,SKIL,SLC2A2,SLC7A14,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,TERC,THPO,TMEM207,TMEM212,TMEM41A,TNFSF10,TNIK,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,USP13,UTS2D,VPS8,VWA5B2,WDR49,YEATS2,ZBBX,ZMAT3,ZNF639 chr3 165357068 165357168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165371953 165372038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 165409400 165464273 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 165460949 166970337 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-431K arrays 21546498 BCHE,ZBBX chr3 16551819 16551899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RFTN1 chr3 165526034 165526134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BCHE chr3 165541823 165541932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCHE chr3 16556493 16556582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 16571501 17229300 Copy number Normal ReadDepth: A Parallel R Package 21305028 DAZL,MIR3714,PLCL2,TBC1D5 chr3 16573303 16573403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165746589 165771088 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 165783455 165811725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 1658250 1666567 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 165852108 165861395 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr3 165857721 166069138 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 165862579 165862622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165897254 165897354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165945024 165945124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165966736 165966826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 165979383 166033229 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 165979383 166047222 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 165980644 166033229 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 165980644 166047222 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 165990664 166047222 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 165998806 166047222 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 166010384 166047222 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 16602593 17433585 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DAZL,MIR3714,PLCL2,TBC1D5 chr3 166027174 166027274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 16603307 16622010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 16603307 16622010 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 16603307 16622010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 166078934 166079034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 16608148 16609886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 166179381 166278976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 166179381 166278976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 166179389 166278984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 16627272 18893125 LOH Normal High-resolution SNP genotyping 21211785 DAZL,LOC339862,MIR3714,PLCL2,SATB1,TBC1D5 chr3 166314683 166315683 Loss Chordoma References 21215367 NOT_FOUND chr3 166323195 166323305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 166323205 166323313 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 166323213 166323313 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 166333716 166367746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 166362094 166362316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166362198 166362298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166387201 166397163 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 166387212 166397171 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 166387227 166397163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 166387227 166397163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 166388389 166388469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166388446 166388546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166390075 166390193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166390196 166390228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 16639129 16671436 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DAZL chr3 166401814 166712788 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 NOT_FOUND chr3 166428644 166428744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166432573 166432673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 16643353 16644353 Loss Chordoma References 21215367 DAZL chr3 166435168 167423831 LOH Normal High-resolution SNP genotyping 21211785 PDCD10,SERPINI2,WDR49,ZBBX chr3 166474562 166474652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166497473 166564633 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 166544600 166544734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166680987 166681051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166686762 166686840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166722041 166722141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166755926 167851730 LOH Normal High-resolution SNP genotyping 21211785 GOLIM4,LOC646168,PDCD10,SERPINI1,SERPINI2,WDR49,ZBBX chr3 166816329 166816421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166844177 166844261 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 166858814 167834944 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GOLIM4,LOC646168,PDCD10,SERPINI1,SERPINI2,WDR49,ZBBX chr3 166858814 168376688 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EGFEM1P,GOLIM4,LOC646168,MIR551B,PDCD10,SERPINI1,SERPINI2,WDR49,ZBBX chr3 166882758 166882858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 166919401 166919456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 166954707 166954859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 166973387 167037947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBBX chr3 166973387 167037947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBBX chr3 166973395 167037952 Gain and loss Pancreatic cancer SNP array 17952125 ZBBX chr3 167030869 167030969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBBX chr3 167057263 167057363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBBX chr3 167063692 167063792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBBX chr3 167097967 167098057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZBBX chr3 167137020 167138270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 167146025 167290266 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 SERPINI2,WDR49 chr3 167168467 167168567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERPINI2 chr3 167180364 167180670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SERPINI2 chr3 167211606 167211706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR49 chr3 167233363 167268765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WDR49 chr3 167360423 167360490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR49 chr3 167360431 167360498 Gain and loss Pancreatic cancer SNP array 17952125 WDR49 chr3 167361187 167361253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR49 chr3 167361195 167361261 Gain and loss Pancreatic cancer SNP array 17952125 WDR49 chr3 167361600 167361667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR49 chr3 167361608 167361675 Gain and loss Pancreatic cancer SNP array 17952125 WDR49 chr3 167401694 167452651 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 PDCD10 chr3 167411068 168058756 LOH Normal High-resolution SNP genotyping 21211785 EGFEM1P,GOLIM4,LOC646168,PDCD10,SERPINI1 chr3 167411068 168597868 LOH Normal High-resolution SNP genotyping 21211785 EGFEM1P,GOLIM4,LOC646168,MIR551B,PDCD10,SERPINI1 chr3 167419222 167419310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDCD10 chr3 167427904 167427969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDCD10 chr3 167427912 167427977 Gain and loss Pancreatic cancer SNP array 17952125 PDCD10 chr3 167433690 167433760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDCD10 chr3 167433698 167433768 Gain and loss Pancreatic cancer SNP array 17952125 PDCD10 chr3 167470180 167470515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SERPINI1 chr3 167478541 167478641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SERPINI1 chr3 167531654 167830205 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GOLIM4,LOC646168,SERPINI1 chr3 167531654 167830205 Copy number gain Normal High-resolution SNP genotyping 21211785 GOLIM4,LOC646168,SERPINI1 chr3 167531654 167868554 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GOLIM4,LOC646168,SERPINI1 chr3 167531654 167868554 Copy number gain Normal High-resolution SNP genotyping 21211785 GOLIM4,LOC646168,SERPINI1 chr3 167539095 167851838 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GOLIM4,LOC646168,SERPINI1 chr3 167546166 167575438 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 167548072 167548172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 167573295 167576883 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 167583517 167860697 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GOLIM4,LOC646168 chr3 167600000 170900000 Gain Esophageal squamous carcinoma Array CGH 17470683 ACTRT3,CLDN11,EGFEM1P,EIF5A2,GOLIM4,GPR160,LOC100128164,LOC646168,LRRC31,LRRC34,LRRIQ4,MECOM,MIR551B,MIR569,MYNN,PHC3,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TNIK chr3 167600000 175700000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 ACTRT3,CLDN11,ECT2,EGFEM1P,EIF5A2,FNDC3B,GHSR,GOLIM4,GPR160,LOC100128164,LOC646168,LRRC31,LRRC34,LRRIQ4,MECOM,MIR4789,MIR551B,MIR569,MYNN,NAALADL2,NAALADL2-AS3,NCEH1,NLGN1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,SPATA16,TERC,TMEM212,TNFSF10,TNIK chr3 16767798 16767901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 16768208 16768263 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 167707652 167707752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 167745513 169478806 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-432K arrays 21546498 EGFEM1P,GOLIM4,MECOM,MIR551B chr3 167786901 167821442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GOLIM4 chr3 167853882 167853982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 167858364 167858438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 16786814 16788358 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 167870485 167870608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 167870493 167870616 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 167891825 167892187 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 167919147 169088688 LOH Normal High-resolution SNP genotyping 21211785 EGFEM1P,MECOM,MIR551B chr3 167941382 167941482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 167978265 167978365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 167990270 167990370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 168004253 168004352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 168007582 168007679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 16800768 16800868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 168011639 168012070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGFEM1P chr3 168011647 168012078 Gain and loss Pancreatic cancer SNP array 17952125 EGFEM1P chr3 168023724 168025415 Gain and loss Pancreatic cancer SNP array 17952125 EGFEM1P chr3 168163149 169825853 LOH Normal High-resolution SNP genotyping 21211785 ACTRT3,EGFEM1P,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR551B,MYNN,PHC3,SAMD7,SEC62,TERC chr3 168171704 168193169 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EGFEM1P chr3 168218251 168220000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EGFEM1P chr3 168225895 168225981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGFEM1P chr3 168264728 168264828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 168266278 168267013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGFEM1P chr3 168266278 168267013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGFEM1P chr3 168266321 168266786 Gain and loss Pancreatic cancer SNP array 17952125 EGFEM1P chr3 168266993 168267093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 168278026 168278126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 168285644 168286644 Loss Chordoma References 21215367 EGFEM1P chr3 168327066 168327166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 168327324 168331976 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 EGFEM1P chr3 168370116 170936692 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACTRT3,CLDN11,EGFEM1P,EIF5A2,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,PHC3,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TNIK chr3 168434192 168434297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EGFEM1P chr3 168438541 168439541 Loss Chordoma References 21215367 EGFEM1P chr3 168440811 168580765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGFEM1P chr3 168440811 168580765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGFEM1P chr3 168441122 168573440 Gain and loss Pancreatic cancer SNP array 17952125 EGFEM1P chr3 168459018 168939137 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EGFEM1P,MECOM chr3 168474685 168474785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 168483182 168910101 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EGFEM1P,MECOM chr3 168483182 168910101 Copy number gain Normal High-resolution SNP genotyping 21211785 EGFEM1P,MECOM chr3 168483182 168939137 Allelic imbalance Normal High-resolution SNP genotyping 21211785 EGFEM1P,MECOM chr3 168483182 168939137 Copy number gain Normal High-resolution SNP genotyping 21211785 EGFEM1P,MECOM chr3 168483422 169118601 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 EGFEM1P,MECOM chr3 168517552 168517652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGFEM1P chr3 168633948 168634083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 168636278 168636378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 168642417 168674515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 168642417 168674515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 168642425 168674523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 168679169 168853983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MECOM chr3 168679169 168853983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MECOM chr3 168679177 168853991 Gain and loss Pancreatic cancer SNP array 17952125 MECOM chr3 168722613 170908630 Amplification Ovarian cancer Array-based CGH 17409414 ACTRT3,CLDN11,EIF5A2,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,PHC3,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TNIK chr3 168724713 168724787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 168731418 169479694 LOH Normal High-resolution SNP genotyping 21211785 MECOM chr3 168737085 169479694 LOH Normal High-resolution SNP genotyping 21211785 MECOM chr3 168801287 168851758 Amplification Basal breast cancer Array-based CGH 17409414 MECOM chr3 168801287 168851758 Amplification Breast cancer Array-based CGH 17409414 MECOM chr3 168801287 168851758 Amplification Cervical cancer Array-based CGH 17409414 MECOM chr3 168801287 168851758 Amplification Esophageal cancer Array-based CGH 17409414 MECOM chr3 168801287 168851758 Amplification head and neck squamous cell carcinoma Array-based CGH 17409414 MECOM chr3 168801287 168851758 Amplification Lung cancer Array-based CGH 17409414 MECOM chr3 168801287 168851758 Amplification Nasopharyngeal cancer Array-based CGH 17409414 MECOM chr3 168801287 168851758 Amplification Prostate cancer Array-based CGH 17409414 MECOM chr3 168832547 168832647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 168867391 169381563 Amplification Basal breast cancer Array-based CGH 17409414 MECOM chr3 168867391 169381563 Amplification Breast cancer Array-based CGH 17409414 MECOM chr3 168867391 169381563 Amplification Cervical cancer Array-based CGH 17409414 MECOM chr3 168867391 169381563 Amplification Esophageal cancer Array-based CGH 17409414 MECOM chr3 168867391 169381563 Amplification head and neck squamous cell carcinoma Array-based CGH 17409414 MECOM chr3 168867391 169381563 Amplification Lung cancer Array-based CGH 17409414 MECOM chr3 168867391 169381563 Amplification Nasopharyngeal cancer Array-based CGH 17409414 MECOM chr3 168867391 169381563 Amplification Prostate cancer Array-based CGH 17409414 MECOM chr3 168884388 168935345 Gain or loss Breast cancer - 20668451 MECOM chr3 168884388 168935345 Gain or loss Cancer - 20668451 MECOM chr3 168884388 168935345 Gain or loss Lung cancer - 20668451 MECOM chr3 168884388 168935345 Gain or loss Ovarian cancer - 20668451 MECOM chr3 168884388 168935345 Gain or loss Pancreas cancer - 20668451 MECOM chr3 168884388 168935345 Gain or loss Prostate cancer - 20668451 MECOM chr3 168884391 168935345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MECOM chr3 168884391 168935345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MECOM chr3 168884394 168935353 Gain and loss Pancreatic cancer SNP array 17952125 MECOM chr3 168891097 171404135 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACTRT3,CLDN11,EIF5A2,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TNIK chr3 168923998 168954563 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MECOM chr3 168936213 169026050 Gain and loss Pancreatic cancer SNP array 17952125 MECOM chr3 168936217 169026048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MECOM chr3 168936217 169026048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MECOM chr3 16901456 17107090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR3714,PLCL2 chr3 16901456 17107090 Gain and loss Pancreatic cancer SNP array 17952125 MIR3714,PLCL2 chr3 16901456 17107090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR3714,PLCL2 chr3 169024676 169393684 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MECOM chr3 169066020 169066120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 169067962 169068062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 169068496 169068596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 169116879 169116979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 169119933 169120033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 169140000 170180000 Gain Breast cancer aCGH 21509527 ACTRT3,CLDN11,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MYNN,PHC3,PRKCI,SAMD7,SEC62,SKIL,SLC7A14,TERC chr3 169166416 169166508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 16919171 16919250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 169200000 172500000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 ACTRT3,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,NCEH1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TMEM212,TNFSF10,TNIK chr3 169200000 172500000 Amplification Normal - 22101487 ACTRT3,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,NCEH1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TMEM212,TNFSF10,TNIK chr3 169200000 172500000 Amplification Prostate cancer CGH 16547154 ACTRT3,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,NCEH1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TMEM212,TNFSF10,TNIK chr3 169200000 172500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTRT3,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,NCEH1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TMEM212,TNFSF10,TNIK chr3 169200000 172500000 Gain Adenocarcinoma array-CGH 19607727 ACTRT3,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,NCEH1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TMEM212,TNFSF10,TNIK chr3 169200000 172500000 Gain Ovarian cancer Affymetrix 20844748 ACTRT3,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,NCEH1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TMEM212,TNFSF10,TNIK chr3 169200000 172500000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 ACTRT3,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,NCEH1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TMEM212,TNFSF10,TNIK chr3 169200000 172500000 Gain Squamous cell cancer array-CGH 19607727 ACTRT3,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR569,MYNN,NCEH1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,TERC,TMEM212,TNFSF10,TNIK chr3 169200000 199501827 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ACTRT3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GHSR,GMNC,GNB4,GP5,GPR160,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100128164,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRIQ4,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MECOM,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR4797,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,MYNN,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PHC3,PIGX,PIGZ,PIK3CA,PLD1,POLR2H,PPP1R2,PRKCI,PSMD2,PYDC2,RFC4,RNF168,RPL22L1,RPL35A,RPL39L,RTP1,RTP2,RTP4,SAMD7,SDHAP1,SDHAP2,SEC62,SENP2,SENP5,SKIL,SLC2A2,SLC51A,SLC7A14,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 169209933 169296371 Gain and loss Pancreatic cancer SNP array 17952125 MECOM chr3 169210348 169296111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MECOM chr3 169210348 169296111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MECOM chr3 169230059 169230359 Loss Chordoma References 21215367 MECOM chr3 169253515 169253615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 169305809 169306809 Loss Chordoma References 21215367 MECOM chr3 169355719 169355812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MECOM chr3 169472632 169640335 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 ACTRT3,LRRC31,LRRC34,LRRIQ4,MYNN,SAMD7,TERC chr3 169474314 169474501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 169597373 169597473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 169661590 170271386 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLDN11,GPR160,LOC100128164,PHC3,PRKCI,SEC62,SKIL,SLC7A14 chr3 169675680 169675870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100128164 chr3 169675688 169675866 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128164 chr3 169675688 169675880 Gain and loss Pancreatic cancer SNP array 17952125 LOC100128164 chr3 169691482 170458940 LOH Normal High-resolution SNP genotyping 21211785 CLDN11,GPR160,PHC3,PRKCI,SEC62,SKIL,SLC7A14 chr3 169708323 169708423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEC62 chr3 169746051 169747069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 169752336 169752431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 169755735 169803181 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 GPR160 chr3 169771716 169985812 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GPR160,PHC3,PRKCI chr3 169791142 170027812 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPR160,PHC3,PRKCI chr3 169791142 170041982 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GPR160,PHC3,PRKCI chr3 169813265 169813365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHC3 chr3 169871567 169898566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PHC3 chr3 169889024 169889124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHC3 chr3 169892827 169937742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PHC3 chr3 169998640 169998712 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKCI chr3 170012789 170030104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PRKCI chr3 170012789 170030104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCI chr3 170012789 170030104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCI chr3 170024984 173604597 Amplification Cancer Affymetrix 250K Sty array 20164920 CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,MIR569,NCEH1,NLGN1,PLD1,RPL22L1,SKIL,SLC2A2,SLC7A14,SPATA16,TMEM212,TNFSF10,TNIK chr3 170073778 170073862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 170088444 170608075 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 CLDN11,EIF5A2,RPL22L1,SKIL,SLC7A14 chr3 170129000 199318000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN11,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GHSR,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR4797,MIR569,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,PLD1,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL22L1,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC2A2,SLC51A,SLC7A14,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 170150001 170300002 Gain Ovarian cancer QPCR 19835627 CLDN11,SLC7A14 chr3 170150840 170280412 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 CLDN11,SLC7A14 chr3 170166745 170185274 Amplification or deletion Cancer Array CGH 17440070 SLC7A14 chr3 170221124 170221516 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SLC7A14 chr3 170221149 170221529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC7A14 chr3 170265414 170767903 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-388K arrays 21546498 EIF5A2,RPL22L1,SLC2A2,SLC7A14 chr3 170283980 170863957 Gain or loss Breast cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,SLC7A14,TNIK chr3 170283980 170863957 Gain or loss Cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,SLC7A14,TNIK chr3 170283980 170863957 Gain or loss Lung cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,SLC7A14,TNIK chr3 170283980 170863957 Gain or loss Ovarian cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,SLC7A14,TNIK chr3 170283980 170863957 Gain or loss Pancreas cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,SLC7A14,TNIK chr3 170283980 170863957 Gain or loss Prostate cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,SLC7A14,TNIK chr3 170283981 170347054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC7A14 chr3 170283981 170347054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC7A14 chr3 170283998 170348224 Gain and loss Pancreatic cancer SNP array 17952125 SLC7A14 chr3 170285244 170347054 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SLC7A14 chr3 170310568 188330598 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ATP11B,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CCDC39,CHRD,CLCN2,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,LAMP3,LINC00578,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MFN1,MIR1224,MIR1248,MIR4789,MIR569,MRPL47,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,PARL,PEX5L,PIK3CA,PLD1,POLR2H,PSMD2,RFC4,RPL22L1,RPL39L,RTP1,RTP2,RTP4,SENP2,SLC2A2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,THPO,TMEM212,TMEM41A,TNFSF10,TNIK,TRA2B,TTC14,USP13,VPS8,VWA5B2,YEATS2,ZMAT3,ZNF639 chr3 170349579 170864168 Gain or loss Breast cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,TNIK chr3 170349579 170864168 Gain or loss Cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,TNIK chr3 170349579 170864168 Gain or loss Lung cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,TNIK chr3 170349579 170864168 Gain or loss Ovarian cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,TNIK chr3 170349579 170864168 Gain or loss Pancreas cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,TNIK chr3 170349579 170864168 Gain or loss Prostate cancer - 20668451 EIF5A2,MIR569,RPL22L1,SLC2A2,TNIK chr3 170378988 170379088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 170418724 170420225 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 170561355 170561434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 170581663 170582016 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 170581663 170582016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 170581973 170582042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 170589207 170607280 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EIF5A2 chr3 170673801 171635200 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR569,PLD1,SLC2A2,TMEM212,TNIK chr3 170684153 170684502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 170684161 170684516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 170706663 170706745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 170728337 171654998 LOH Normal High-resolution SNP genotyping 21211785 MIR569,PLD1,SLC2A2,TMEM212,TNIK chr3 170732170 171404135 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR569,PLD1,SLC2A2,TNIK chr3 170749173 170758022 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 170751295 170751573 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 170766604 170766693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 170823717 170869844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR569,TNIK chr3 170900000 175700000 Copy number Neuroticism SNP array 17667963 ECT2,FNDC3B,GHSR,MIR4789,NAALADL2,NAALADL2-AS3,NCEH1,NLGN1,PLD1,SPATA16,TMEM212,TNFSF10,TNIK chr3 170900000 175700000 Gain Esophageal squamous carcinoma Array CGH 17470683 ECT2,FNDC3B,GHSR,MIR4789,NAALADL2,NAALADL2-AS3,NCEH1,NLGN1,PLD1,SPATA16,TMEM212,TNFSF10,TNIK chr3 170900000 182700000 Copy number Anaplastic thyroid cancer Real-time PCR 17989125 ACTL6A,ATP11B,CCDC39,DCUN1D1,DNAJC19,ECT2,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,PEX5L,PIK3CA,PLD1,SOX2,SOX2-OT,SPATA16,TBL1XR1,TMEM212,TNFSF10,TNIK,TTC14,USP13,ZMAT3,ZNF639 chr3 170900000 182700000 Copy number Lung adenocarcinoma Agilent 44k arrays 19525976 ACTL6A,ATP11B,CCDC39,DCUN1D1,DNAJC19,ECT2,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,PEX5L,PIK3CA,PLD1,SOX2,SOX2-OT,SPATA16,TBL1XR1,TMEM212,TNFSF10,TNIK,TTC14,USP13,ZMAT3,ZNF639 chr3 170900000 182700000 Copy number Lung cancer Agilent 44k arrays 19525976 ACTL6A,ATP11B,CCDC39,DCUN1D1,DNAJC19,ECT2,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,PEX5L,PIK3CA,PLD1,SOX2,SOX2-OT,SPATA16,TBL1XR1,TMEM212,TNFSF10,TNIK,TTC14,USP13,ZMAT3,ZNF639 chr3 170900000 182700000 Gain Ovarian cancer MLPA 18208621 ACTL6A,ATP11B,CCDC39,DCUN1D1,DNAJC19,ECT2,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,PEX5L,PIK3CA,PLD1,SOX2,SOX2-OT,SPATA16,TBL1XR1,TMEM212,TNFSF10,TNIK,TTC14,USP13,ZMAT3,ZNF639 chr3 170900000 182700000 Gain Thyroid cancer ABI 7900HT TaqMan sequence detector 17317825 ACTL6A,ATP11B,CCDC39,DCUN1D1,DNAJC19,ECT2,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,PEX5L,PIK3CA,PLD1,SOX2,SOX2-OT,SPATA16,TBL1XR1,TMEM212,TNFSF10,TNIK,TTC14,USP13,ZMAT3,ZNF639 chr3 170900000 182700000 Gain Thyroid cancer Real-time PCR 17989125 ACTL6A,ATP11B,CCDC39,DCUN1D1,DNAJC19,ECT2,FLJ46066,FNDC3B,FXR1,GHSR,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NCEH1,NDUFB5,NLGN1,PEX5L,PIK3CA,PLD1,SOX2,SOX2-OT,SPATA16,TBL1XR1,TMEM212,TNFSF10,TNIK,TTC14,USP13,ZMAT3,ZNF639 chr3 170909777 170910252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170909785 170910260 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 170920669 170920775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170920677 170920783 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 170965092 170965529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170965100 170965537 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 170965100 170965550 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 170967407 170970377 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNIK chr3 170967407 170970377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170967407 170970377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170967415 170970385 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 170973313 170988027 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNIK chr3 170973313 170988027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170973313 170988027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170973555 170988037 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 170980242 170980342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNIK chr3 17099092 17106758 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PLCL2 chr3 170993960 171013025 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNIK chr3 170993960 171013025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170993960 171013025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 170993968 171013033 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 171022395 171038092 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNIK chr3 171022395 171038255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 171022395 171038255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 171022403 171038121 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 171039736 171070356 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNIK chr3 171039736 171070356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 171039736 171070356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 171040491 171070420 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 171068764 171662152 LOH Normal High-resolution SNP genotyping 21211785 PLD1,TMEM212,TNIK chr3 171073104 171694715 LOH Normal High-resolution SNP genotyping 21211785 PLD1,TMEM212,TNIK chr3 171093440 171093540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNIK chr3 171104076 171104788 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 171112054 171139640 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNIK chr3 171112054 171139640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 171112054 171139640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 171112062 171139648 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 171125580 199501827 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-396K arrays 21546498 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FXR1,FYTTD1,GHSR,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NDUFB5,NLGN1,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,PLD1,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM212,TMEM41A,TMEM44,TMEM44-AS1,TNFSF10,TNIK,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 171155203 171155289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNIK chr3 171167274 171198855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNIK chr3 171167274 171198855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 171167274 171198855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNIK chr3 171167298 171196952 Gain and loss Pancreatic cancer SNP array 17952125 TNIK chr3 171183659 171183748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 171196960 171198861 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 171238494 171285872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 171238494 171285872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 171238502 171285880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 171239397 171285872 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 171257783 171257911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 171257791 171257918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 171257791 171257922 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 171265956 171266029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 171288062 171382231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLD1 chr3 171288062 171382231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD1 chr3 171288292 171290072 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 171288300 171290080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 171295918 171382203 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLD1 chr3 171297386 171382223 Gain and loss Pancreatic cancer SNP array 17952125 PLD1 chr3 171350327 171350433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD1 chr3 171350335 171350441 Gain and loss Pancreatic cancer SNP array 17952125 PLD1 chr3 171350335 171350442 Gain and loss Pancreatic cancer SNP array 17952125 PLD1 chr3 171415609 171482195 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PLD1 chr3 171422906 171506463 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PLD1 chr3 171422906 171506464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLD1 chr3 171422906 171506464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD1 chr3 171422913 171506464 Gain or loss Breast cancer - 20668451 PLD1 chr3 171422913 171506464 Gain or loss Cancer - 20668451 PLD1 chr3 171422913 171506464 Gain or loss Lung cancer - 20668451 PLD1 chr3 171422913 171506464 Gain or loss Ovarian cancer - 20668451 PLD1 chr3 171422913 171506464 Gain or loss Pancreas cancer - 20668451 PLD1 chr3 171422913 171506464 Gain or loss Prostate cancer - 20668451 PLD1 chr3 171422927 171506466 Gain and loss Pancreatic cancer SNP array 17952125 PLD1 chr3 171431192 171434557 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PLD1 chr3 171431800 171433895 Gain Normal 244K array 17666407 PLD1 chr3 171444037 171489484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLD1 chr3 171445264 171445363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLD1 chr3 171445272 171445368 Gain and loss Pancreatic cancer SNP array 17952125 PLD1 chr3 171445272 171445369 Gain and loss Pancreatic cancer SNP array 17952125 PLD1 chr3 171497799 171497799 Copy number Prostate cancer Illumina GA II sequencer 21307934 PLD1 chr3 171509919 171616333 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 PLD1,TMEM212 chr3 171545299 171546464 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 171549390 171549490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 171558208 171593226 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TMEM212 chr3 171560178 171593226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM212 chr3 171560178 171593226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM212 chr3 171560822 171593234 Gain and loss Pancreatic cancer SNP array 17952125 TMEM212 chr3 171602259 171602567 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 171619359 171634577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 171619359 171634577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 171619367 171634585 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 171626188 171626372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 171626395 171626591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 171635201 172040000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FNDC3B chr3 17165165 17165345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 17165181 17165333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 171662053 171662448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 171667255 171786552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNDC3B chr3 171667255 171786552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3B chr3 171667263 171786560 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3B chr3 171689765 172448839 LOH Normal High-resolution SNP genotyping 21211785 FNDC3B,GHSR,NCEH1,TNFSF10 chr3 17174902 17757403 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 TBC1D5 chr3 17174903 17757403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D5 chr3 17174903 17757403 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D5 chr3 17174903 17757403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D5 chr3 171763881 171763978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNDC3B chr3 1 71800000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FOXP1,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 171811961 171841583 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FNDC3B chr3 171844831 171844888 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 FNDC3B chr3 171854329 171854742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3B chr3 171854343 171854750 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3B chr3 171885291 171885391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNDC3B chr3 171926149 171959628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FNDC3B chr3 171936375 171936475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNDC3B chr3 171954201 171954301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNDC3B chr3 172040001 173583300 Copy number Normal ReadDepth: A Parallel R Package 21305028 ECT2,FNDC3B,GHSR,NCEH1,NLGN1,SPATA16,TNFSF10 chr3 172042578 172042655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3B chr3 172042581 172042655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3B chr3 172042589 172042663 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3B chr3 172048361 172048611 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FNDC3B chr3 172048361 172048611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FNDC3B chr3 172065358 172070739 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FNDC3B chr3 172066749 172073165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3B chr3 172066806 172070686 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3B chr3 172069725 172069825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNDC3B chr3 172088898 172109120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNDC3B chr3 172088898 172109120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNDC3B chr3 172088906 172109128 Gain and loss Pancreatic cancer SNP array 17952125 FNDC3B chr3 17210587 17210687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 172128523 172128598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 172128825 172128954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 17213485 17214661 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TBC1D5 chr3 172153336 172154388 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 172168693 172168793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 172192676 172493020 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ECT2,NCEH1,TNFSF10 chr3 172195353 172195516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 172195360 172195524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 172195361 172195523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 172196831 172227462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TNFSF10 chr3 172196831 172227462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNFSF10 chr3 172196839 172227470 Gain and loss Pancreatic cancer SNP array 17952125 TNFSF10 chr3 172209912 172755182 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ECT2,NCEH1,SPATA16,TNFSF10 chr3 172209912 172755182 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ECT2,NCEH1,SPATA16,TNFSF10 chr3 172262986 172660812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ECT2,NCEH1,SPATA16 chr3 172262986 172660812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ECT2,NCEH1,SPATA16 chr3 172262994 172660820 Gain and loss Pancreatic cancer SNP array 17952125 ECT2,NCEH1,SPATA16 chr3 17229301 17735300 Copy number Normal ReadDepth: A Parallel R Package 21305028 TBC1D5 chr3 172307147 172307242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 172347341 172347432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 172348474 172348528 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NCEH1 chr3 172409234 172409334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NCEH1 chr3 172483927 172485099 Gain and loss Pancreatic cancer SNP array 17952125 ECT2 chr3 172493854 172503213 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ECT2 chr3 172500000 177300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ECT2,LINC00578,MIR4789,NAALADL2,NAALADL2-AS3,NLGN1,SPATA16,TBL1XR1 chr3 172500000 177300000 Copy number Normal - 21701786 ECT2,LINC00578,MIR4789,NAALADL2,NAALADL2-AS3,NLGN1,SPATA16,TBL1XR1 chr3 172500000 177300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ECT2,LINC00578,MIR4789,NAALADL2,NAALADL2-AS3,NLGN1,SPATA16,TBL1XR1 chr3 172500000 177300000 Duplication Autism high-density microarrays 22241247 ECT2,LINC00578,MIR4789,NAALADL2,NAALADL2-AS3,NLGN1,SPATA16,TBL1XR1 chr3 172500000 184200000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ALG3,AP2M1,ATP11B,B3GNT5,CAMK2N2,CCDC39,CHRD,CLCN2,DCUN1D1,DNAJC19,DVL3,ECE2,ECT2,EIF2B5,EIF4G1,FAM131A,FLJ46066,FXR1,GNB4,HTR3C,HTR3D,HTR3E,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,LAMP3,LINC00578,LOC100505687,MAP6D1,MCCC1,MCF2L2,MFN1,MIR1224,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NDUFB5,NLGN1,PARL,PEX5L,PIK3CA,POLR2H,PSMD2,SNORD66,SOX2,SOX2-OT,SPATA16,TBL1XR1,THPO,TTC14,USP13,VWA5B2,YEATS2,ZMAT3,ZNF639 chr3 172500000 184200000 Gain Non-small cell lung cancer dChip 21829676 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ALG3,AP2M1,ATP11B,B3GNT5,CAMK2N2,CCDC39,CHRD,CLCN2,DCUN1D1,DNAJC19,DVL3,ECE2,ECT2,EIF2B5,EIF4G1,FAM131A,FLJ46066,FXR1,GNB4,HTR3C,HTR3D,HTR3E,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,LAMP3,LINC00578,LOC100505687,MAP6D1,MCCC1,MCF2L2,MFN1,MIR1224,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NDUFB5,NLGN1,PARL,PEX5L,PIK3CA,POLR2H,PSMD2,SNORD66,SOX2,SOX2-OT,SPATA16,TBL1XR1,THPO,TTC14,USP13,VWA5B2,YEATS2,ZMAT3,ZNF639 chr3 172500000 184200000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ALG3,AP2M1,ATP11B,B3GNT5,CAMK2N2,CCDC39,CHRD,CLCN2,DCUN1D1,DNAJC19,DVL3,ECE2,ECT2,EIF2B5,EIF4G1,FAM131A,FLJ46066,FXR1,GNB4,HTR3C,HTR3D,HTR3E,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,LAMP3,LINC00578,LOC100505687,MAP6D1,MCCC1,MCF2L2,MFN1,MIR1224,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NDUFB5,NLGN1,PARL,PEX5L,PIK3CA,POLR2H,PSMD2,SNORD66,SOX2,SOX2-OT,SPATA16,TBL1XR1,THPO,TTC14,USP13,VWA5B2,YEATS2,ZMAT3,ZNF639 chr3 172500000 186000000 Copy number Breast cancer - 21806811 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ALG3,AP2M1,ATP11B,B3GNT5,C3orf65,C3orf70,CAMK2N2,CCDC39,CHRD,CLCN2,DCUN1D1,DGKG,DNAJC19,DVL3,ECE2,ECT2,EHHADH,EHHADH-AS1,EIF2B5,EIF4G1,EPHB3,ETV5,FAM131A,FLJ46066,FXR1,GNB4,HTR3C,HTR3D,HTR3E,IGF2BP2,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,LAMP3,LINC00578,LIPH,LOC100505687,LOC344887,MAGEF1,MAP3K13,MAP6D1,MCCC1,MCF2L2,MFN1,MIR1224,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NDUFB5,NLGN1,PARL,PEX5L,PIK3CA,POLR2H,PSMD2,SENP2,SNORD66,SOX2,SOX2-OT,SPATA16,TBL1XR1,THPO,TMEM41A,TRA2B,TTC14,USP13,VPS8,VWA5B2,YEATS2,ZMAT3,ZNF639 chr3 172500000 189400000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ATP11B,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CCDC39,CHRD,CLCN2,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,FLJ46066,FXR1,GNB4,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,LAMP3,LINC00578,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MFN1,MIR1224,MIR1248,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NDUFB5,NLGN1,PARL,PEX5L,PIK3CA,POLR2H,PSMD2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,THPO,TMEM41A,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,USP13,VPS8,VWA5B2,YEATS2,ZMAT3,ZNF639 chr3 172500000 199501827 Copy number Cancer ICA method 16751803 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,ECT2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,FYTTD1,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NAALADL2,NAALADL2-AS3,NCBP2,NDUFB5,NLGN1,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SPATA16,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 172505227 172505307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ECT2 chr3 172640009 172640110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA16 chr3 172660001 172661500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPATA16 chr3 172704728 172704834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA16 chr3 172704736 172704842 Gain and loss Pancreatic cancer SNP array 17952125 SPATA16 chr3 172708898 172784703 Gain Normal Birdsuite, version 1.5.2 22087296 SPATA16 chr3 172801314 173010929 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPATA16 chr3 172801314 173010929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATA16 chr3 172801314 173010929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA16 chr3 172801322 173010937 Gain and loss Pancreatic cancer SNP array 17952125 SPATA16 chr3 172801338 173011198 Gain or loss Breast cancer - 20668451 SPATA16 chr3 172801338 173011198 Gain or loss Cancer - 20668451 SPATA16 chr3 172801338 173011198 Gain or loss Lung cancer - 20668451 SPATA16 chr3 172801338 173011198 Gain or loss Ovarian cancer - 20668451 SPATA16 chr3 172801338 173011198 Gain or loss Pancreas cancer - 20668451 SPATA16 chr3 172801338 173011198 Gain or loss Prostate cancer - 20668451 SPATA16 chr3 172814214 172814314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA16 chr3 172893695 172893798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 172893703 172893806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 172908348 174871431 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NAALADL2,NAALADL2-AS3,NLGN1 chr3 172963579 173242902 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NLGN1 chr3 172992274 173010408 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 172992274 173010408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 172992282 173010416 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 173006812 173007812 Gain Chordoma References 21215367 NOT_FOUND chr3 173043844 173059802 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 173043844 173059802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 173043858 173054342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 173107272 173107347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 173132486 173132586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173155793 174696769 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NAALADL2,NLGN1 chr3 173180226 173180326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173183670 173183770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 17319749 20570922 Loss Normal 244K array 17666407 EFHB,KAT2B,KCNH8,LOC339862,MIR4791,PP2D1,RAB5A,SATB1,SGOL1,SGOL1-AS1,TBC1D5 chr3 173200000 199500000 Duplication abnormal development HR-CGH, Array-CGH 18461090 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,FYTTD1,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NAALADL2,NAALADL2-AS3,NCBP2,NDUFB5,NLGN1,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 173226194 173226284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173240111 173601181 Deletion Intellectual disability 100k SNP Array 21811512 NLGN1 chr3 173240112 173601181 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NLGN1 chr3 173240112 173601181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173240140 173601189 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173241079 173601181 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NLGN1 chr3 17325104 17325204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 173255274 173279698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NLGN1 chr3 173287445 173288445 Loss Chordoma References 21215367 NLGN1 chr3 17342361 17710957 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 TBC1D5 chr3 173437810 173438075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173437831 173438081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173437839 173438089 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173508556 173508656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173518831 174116425 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 NLGN1 chr3 173531191 173531291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173539374 173539515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NLGN1 chr3 173583301 174494100 Copy number Normal ReadDepth: A Parallel R Package 21305028 NLGN1 chr3 173645617 173648940 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NLGN1 chr3 173645617 173648940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173645617 173648940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173645644 173648897 Gain or loss Breast cancer - 20668451 NLGN1 chr3 173645644 173648897 Gain or loss Cancer - 20668451 NLGN1 chr3 173645644 173648897 Gain or loss Lung cancer - 20668451 NLGN1 chr3 173645644 173648897 Gain or loss Ovarian cancer - 20668451 NLGN1 chr3 173645644 173648897 Gain or loss Pancreas cancer - 20668451 NLGN1 chr3 173645644 173648897 Gain or loss Prostate cancer - 20668451 NLGN1 chr3 173645653 173648905 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173645682 173645682 Copy number Prostate cancer Illumina GA II sequencer 21307934 NLGN1 chr3 173687986 180776184 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 ACTL6A,CCDC39,DNAJC19,FXR1,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NDUFB5,NLGN1,PEX5L,PIK3CA,TBL1XR1,TTC14,USP13,ZMAT3,ZNF639 chr3 173687986 180776184 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ACTL6A,CCDC39,DNAJC19,FXR1,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MIR4789,MRPL47,NAALADL2,NAALADL2-AS3,NDUFB5,NLGN1,PEX5L,PIK3CA,TBL1XR1,TTC14,USP13,ZMAT3,ZNF639 chr3 173706157 173723963 Copy number Lung cancer - 20668451 NLGN1 chr3 173706157 173723963 Gain or loss Breast cancer - 20668451 NLGN1 chr3 173706157 173723963 Gain or loss Cancer - 20668451 NLGN1 chr3 173706157 173723963 Gain or loss Lung cancer - 20668451 NLGN1 chr3 173706157 173723963 Gain or loss Ovarian cancer - 20668451 NLGN1 chr3 173706157 173723963 Gain or loss Pancreas cancer - 20668451 NLGN1 chr3 173706157 173723963 Gain or loss Prostate cancer - 20668451 NLGN1 chr3 173706159 173723963 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NLGN1 chr3 173706159 173723963 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173706159 173723963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173706167 173723971 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 17372605 17372705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 173736279 173751681 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NLGN1 chr3 1737407 1747270 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr3 17380637 17433585 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TBC1D5 chr3 173814501 173816000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NLGN1 chr3 173818562 173880501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NLGN1 chr3 173818562 173880501 Copy number gain Normal High-resolution SNP genotyping 21211785 NLGN1 chr3 173831130 173911702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173831130 173911702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173831138 173911710 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173838957 173869584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NLGN1 chr3 173844185 173844442 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173875708 173875802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173883591 173883911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NLGN1 chr3 173903608 173903708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173903616 173903716 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173909510 173909610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173917283 173917432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173922468 173922965 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173941044 173941119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173949506 173949606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NLGN1 chr3 173951207 174021957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173951207 174021957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173951215 174021965 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173951225 174021957 Gain or loss Breast cancer - 20668451 NLGN1 chr3 173951225 174021957 Gain or loss Cancer - 20668451 NLGN1 chr3 173951225 174021957 Gain or loss Lung cancer - 20668451 NLGN1 chr3 173951225 174021957 Gain or loss Ovarian cancer - 20668451 NLGN1 chr3 173951225 174021957 Gain or loss Pancreas cancer - 20668451 NLGN1 chr3 173951225 174021957 Gain or loss Prostate cancer - 20668451 NLGN1 chr3 173971761 173971889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173971769 173971893 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173971769 173971897 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173996897 173997042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NLGN1 chr3 173996915 173997050 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 173996983 173997050 Gain and loss Pancreatic cancer SNP array 17952125 NLGN1 chr3 174011586 174011686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 174021849 174021898 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 174089842 174341700 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 174089842 174341700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 174089842 174341700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 174089850 174341708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 174101080 174101180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 174143993 174144067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 174157922 174157986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 174195592 177204933 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LINC00578,MIR4789,NAALADL2,NAALADL2-AS3,TBL1XR1 chr3 1 74200000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FOXP1,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 1 74200000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FOXP1,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 1 74200000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FOXP1,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 174235720 174235752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 174283139 174328485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 174296433 174506577 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 NOT_FOUND chr3 17431240 17700218 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 TBC1D5 chr3 174370000 199290000 Duplication Autism aCGH 19653912 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,FYTTD1,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NAALADL2,NAALADL2-AS3,NCBP2,NDUFB5,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 174434626 174434726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 174501008 174623376 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NAALADL2 chr3 174502318 174502413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 174502661 174502739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 174558797 174558862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 174598937 175483810 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 MIR4789,NAALADL2,NAALADL2-AS3 chr3 174607522 174607622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2 chr3 174622697 174928079 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NAALADL2,NAALADL2-AS3 chr3 174636361 175149207 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR4789,NAALADL2,NAALADL2-AS3 chr3 174642098 174674809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAALADL2 chr3 1746748 1747158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 1746757 1747158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 174686097 174686197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2 chr3 174692386 174708061 Gain Normal Birdsuite, version 1.5.2 22087296 NAALADL2 chr3 174710570 174895431 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NAALADL2,NAALADL2-AS3 chr3 174718577 174772374 Gain Normal Birdsuite, version 1.5.2 22087296 NAALADL2 chr3 174718691 174777539 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NAALADL2 chr3 174718691 174777539 Copy number gain Normal High-resolution SNP genotyping 21211785 NAALADL2 chr3 174719597 174786009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NAALADL2 chr3 174721740 174777539 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NAALADL2 chr3 174721740 174777539 Copy number gain Normal High-resolution SNP genotyping 21211785 NAALADL2 chr3 174722147 174771975 Gain Autism qPCR 20531469 NAALADL2 chr3 174723317 174772362 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NAALADL2 chr3 174723587 174777539 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NAALADL2 chr3 174723587 174777539 Copy number gain Normal High-resolution SNP genotyping 21211785 NAALADL2 chr3 174733014 174770350 Gain Normal 244K array 17666407 NAALADL2 chr3 174740548 174802150 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NAALADL2,NAALADL2-AS3 chr3 174751114 174751171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NAALADL2 chr3 174754378 174771975 Duplication Autism quantitative PCR 19404257 NAALADL2 chr3 174781897 174781963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2 chr3 174800872 174800972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2,NAALADL2-AS3 chr3 174805083 175483810 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MIR4789,NAALADL2,NAALADL2-AS3 chr3 174805083 175483810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR4789,NAALADL2,NAALADL2-AS3 chr3 174805083 175483810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR4789,NAALADL2,NAALADL2-AS3 chr3 174805091 175483615 Gain and loss Pancreatic cancer SNP array 17952125 MIR4789,NAALADL2,NAALADL2-AS3 chr3 174829731 175197865 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4789,NAALADL2,NAALADL2-AS3 chr3 17488056 17488186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D5 chr3 17489329 17537027 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TBC1D5 chr3 174941010 174941110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2 chr3 174953767 174953862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2 chr3 174963401 175020335 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NAALADL2 chr3 174964231 175479234 LOH Normal High-resolution SNP genotyping 21211785 MIR4789,NAALADL2 chr3 174976314 175616381 LOH Normal High-resolution SNP genotyping 21211785 MIR4789,NAALADL2 chr3 174980203 174980303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2 chr3 175042930 194359584 Copy number gain Normal High-resolution SNP genotyping 21211785 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC253573,LOC344887,LOC647323,LPP,LPP-AS2,LRRC15,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFN1,MGC2889,MIR1224,MIR1248,MIR4789,MIR944,MRPL47,NAALADL2,NDUFB5,OPA1,OPA1-AS1,OSTN,PARL,PEX5L,PIK3CA,POLR2H,PSMD2,PYDC2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,TBL1XR1,THPO,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,USP13,UTS2D,VPS8,VWA5B2,YEATS2,ZMAT3,ZNF639 chr3 17504952 17519017 Gain or loss Normal Birdsuite, version 1.5.2 22087296 TBC1D5 chr3 17512156 17553182 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TBC1D5 chr3 175129124 175129224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2 chr3 175146638 175190849 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAALADL2 chr3 175197865 175512109 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NAALADL2 chr3 175209032 175214555 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NAALADL2 chr3 175287849 175288849 Gain Chordoma References 21215367 NAALADL2 chr3 175307369 183353267 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACTL6A,ATP11B,B3GNT5,CCDC39,DCUN1D1,DNAJC19,FLJ46066,FXR1,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,KLHL6,LAMP3,LINC00578,LOC100505687,MCCC1,MCF2L2,MFN1,MRPL47,NAALADL2,NDUFB5,PEX5L,PIK3CA,SOX2,SOX2-OT,TBL1XR1,TTC14,USP13,ZMAT3,ZNF639 chr3 175331774 175443717 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NAALADL2 chr3 175334389 175368260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAALADL2 chr3 175342316 175512109 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NAALADL2 chr3 175446835 178263192 Deletion Cancer Affymetrix 250K Sty array 20164920 KCNMB2,KCNMB2-IT1,LINC00578,NAALADL2,TBL1XR1 chr3 175515915 175516015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAALADL2 chr3 175558829 175558929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 175559772 175563334 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 175577728 175578489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 175577736 175578497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 17558108 17558186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 175595713 175595787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1756414 1834232 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 175661784 175678810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 175673809 175673926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 175673929 175674146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 175673960 175674058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1756985 1757293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 175700000 179000000 Amplification Endometrial cancer GISTIC software 19261849 KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,PIK3CA,TBL1XR1,ZMAT3 chr3 175700000 179000000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,PIK3CA,TBL1XR1,ZMAT3 chr3 175700000 179000000 Gain Esophageal squamous carcinoma Array CGH 17470683 KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,PIK3CA,TBL1XR1,ZMAT3 chr3 175706293 175706388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1757131 1763807 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 1757131 1763807 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 175718180 176151794 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 1757230 1763036 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 175728643 177890899 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00578,TBL1XR1 chr3 175728643 178105773 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00578,TBL1XR1 chr3 175774661 175941767 Deletion Epilepsy Affymetrix Cytogenetics 2.7M array platform,FISH 22106001 NOT_FOUND chr3 175774661 175941767 Deletion Intellectual disability Affymetrix Cytogenetics 2.7M array platform,FISH 22106001 NOT_FOUND chr3 175774661 175941767 Deletion Microcephaly Affymetrix Cytogenetics 2.7M array platform,FISH 22106001 NOT_FOUND chr3 175782382 175816098 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 175893445 175900320 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr3 175899067 175899379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 176059804 177006122 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TBL1XR1 chr3 17607867 17607952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 176098299 176098628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 176143022 176143122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 176150148 176273036 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr3 176153286 176565692 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr3 176160173 176838844 Insert Cancer ultra-high resolution array CGH 21272361 TBL1XR1 chr3 176209249 176210249 Loss Chordoma References 21215367 NOT_FOUND chr3 176216191 176216270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 176271514 199322068 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,FYTTD1,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LINC00578,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NCBP2,NDUFB5,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,TBL1XR1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 176275033 177088138 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 TBL1XR1 chr3 176276459 176415397 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 176280750 176314688 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 176297261 177006120 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TBL1XR1 chr3 176297261 177006122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBL1XR1 chr3 176297261 177006122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBL1XR1 chr3 176297269 177006128 Gain and loss Pancreatic cancer SNP array 17952125 TBL1XR1 chr3 176299367 176299467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 176314863 177549087 Substitutions and indels small cell lung cancer array-CGH 20016488 LINC00578,TBL1XR1 chr3 176315612 177551148 Deletion small cell lung cancer array-CGH 20016488 LINC00578,TBL1XR1 chr3 176372499 176372599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 176384088 176433579 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 176433579 176570578 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 176564661 176566093 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr3 176572869 176595179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 176573124 177202567 Loss Normal 244K array 17666407 LINC00578,TBL1XR1 chr3 176577059 176998125 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 TBL1XR1 chr3 176578236 176895370 Allelic imbalance Normal High-resolution SNP genotyping 21211785 TBL1XR1 chr3 176578236 176895370 Copy number loss Normal High-resolution SNP genotyping 21211785 TBL1XR1 chr3 176585803 176889735 Copy number loss Normal High-resolution SNP genotyping 21211785 TBL1XR1 chr3 176585803 176895370 Copy number loss Normal High-resolution SNP genotyping 21211785 TBL1XR1 chr3 176594778 176644913 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 176597725 176597827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 176597737 176597835 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 176597738 176597838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 176634533 176634623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 176650000 179540000 Gain Breast cancer aCGH 21509527 ACTL6A,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MRPL47,NDUFB5,PEX5L,PIK3CA,TBL1XR1,USP13,ZMAT3,ZNF639 chr3 17667905 17668005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 176755038 176755138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBL1XR1 chr3 176809961 176810110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBL1XR1 chr3 176809969 176810038 Gain and loss Pancreatic cancer SNP array 17952125 TBL1XR1 chr3 176809969 176810086 Gain and loss Pancreatic cancer SNP array 17952125 TBL1XR1 chr3 17681459 17681521 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D5 chr3 176913290 176913390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBL1XR1 chr3 176918574 176919150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 176918574 176919150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 176918574 176919150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 176918716 176919161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 176939753 176939856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 176939761 176939864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 17695066 17700023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D5 chr3 17695870 17695970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 17696301 18645164 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC339862,SATB1,TBC1D5 chr3 176968039 176968151 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 176968040 176968143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 176968049 176968151 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 176990164 176990300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 17706687 17707011 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBC1D5 chr3 177084960 177085015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 177091206 177091293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 17712436 17712536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 177125903 178269382 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 KCNMB2,KCNMB2-IT1,LINC00578 chr3 177162066 177196030 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00578 chr3 17716396 17716468 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D5 chr3 17716396 17716468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D5 chr3 177169670 177169765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00578 chr3 177176022 177205821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00578 chr3 177275752 177516301 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00578 chr3 177280297 177280397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00578 chr3 177293889 177293989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00578 chr3 177300000 180600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTL6A,CCDC39,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MRPL47,NDUFB5,PEX5L,PIK3CA,TTC14,USP13,ZMAT3,ZNF639 chr3 177300000 180600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACTL6A,CCDC39,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MRPL47,NDUFB5,PEX5L,PIK3CA,TTC14,USP13,ZMAT3,ZNF639 chr3 177300000 180600000 Gain Adenocarcinoma array-CGH 19607727 ACTL6A,CCDC39,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MRPL47,NDUFB5,PEX5L,PIK3CA,TTC14,USP13,ZMAT3,ZNF639 chr3 177300000 180600000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 ACTL6A,CCDC39,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MRPL47,NDUFB5,PEX5L,PIK3CA,TTC14,USP13,ZMAT3,ZNF639 chr3 177300000 180600000 Gain Squamous cell cancer array-CGH 19607727 ACTL6A,CCDC39,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MRPL47,NDUFB5,PEX5L,PIK3CA,TTC14,USP13,ZMAT3,ZNF639 chr3 177300000 180600000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 ACTL6A,CCDC39,GNB4,KCNMB2,KCNMB2-IT1,KCNMB3,LINC00578,MFN1,MRPL47,NDUFB5,PEX5L,PIK3CA,TTC14,USP13,ZMAT3,ZNF639 chr3 177315531 177315620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00578 chr3 177324731 177627161 Deletion Normal Affymetrix 6.0 microarrays 20967226 LINC00578 chr3 17735301 18266600 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC339862,TBC1D5 chr3 177355205 177406861 Copy number loss Normal High-resolution SNP genotyping 21211785 LINC00578 chr3 177356506 177419625 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LINC00578 chr3 177365205 177397769 Copy number loss Normal High-resolution SNP genotyping 21211785 LINC00578 chr3 177369960 177393934 Loss Normal 244K array 17666407 LINC00578 chr3 177370741 177397161 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00578 chr3 177370741 177398903 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LINC00578 chr3 177421251 177454037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00578 chr3 177425908 177451509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00578 chr3 177449668 177450668 Gain Chordoma References 21215367 LINC00578 chr3 177454456 177489403 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LINC00578 chr3 177554175 198442515 Substitutions and indels small cell lung cancer array-CGH 20016488 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,FYTTD1,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NCBP2,NDUFB5,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 177584360 177731877 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 177590200 177590300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 177666579 177666674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 177688928 178009038 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr3 17770507 17770568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D5 chr3 177745732 177745832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 177759412 178051136 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 177834238 177834388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 177963711 177963795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 177963719 177963803 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 178000628 178000728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 178095792 178095892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 178110821 178111041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 178110943 178111043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 178111113 178111213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 178149984 199501827 Amplification Cancer Affymetrix 250K Sty array 20164920 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,FYTTD1,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NCBP2,NDUFB5,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 178157495 178157595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMB2-IT1 chr3 178212163 178397734 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 KCNMB2 chr3 178212163 178397734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMB2 chr3 178221235 178397742 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 KCNMB2 chr3 178221245 178397715 Gain and loss Pancreatic cancer SNP array 17952125 KCNMB2 chr3 178252497 178299328 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KCNMB2 chr3 178270400 178300256 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 KCNMB2 chr3 178272778 178272867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMB2 chr3 178311445 178393271 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KCNMB2 chr3 178321173 178321282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMB2 chr3 178321183 178321290 Gain and loss Pancreatic cancer SNP array 17952125 KCNMB2 chr3 178321184 178321289 Gain and loss Pancreatic cancer SNP array 17952125 KCNMB2 chr3 178326499 178326602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNMB2 chr3 178326507 178326609 Gain and loss Pancreatic cancer SNP array 17952125 KCNMB2 chr3 178326507 178326610 Gain and loss Pancreatic cancer SNP array 17952125 KCNMB2 chr3 1783462 1783562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 178382125 178382225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMB2 chr3 178385363 178407416 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 KCNMB2 chr3 178446215 180805079 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ACTL6A,CCDC39,DNAJC19,FXR1,GNB4,KCNMB2,KCNMB3,MFN1,MRPL47,NDUFB5,PEX5L,PIK3CA,TTC14,USP13,ZMAT3,ZNF639 chr3 178491440 178491531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNMB2 chr3 178497865 178498861 Gain and loss Pancreatic cancer SNP array 17952125 KCNMB2 chr3 178683722 178683822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 178703866 178704034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 178703874 178704042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 178710064 178742733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZMAT3 chr3 178721978 178722078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 178745121 179121299 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GNB4,KCNMB3,MFN1,PIK3CA,ZMAT3,ZNF639 chr3 178755564 198504724 Loss Prostate cancer Array CGH 18632612 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC39,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,FYTTD1,GMNC,GNB4,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KCNMB3,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MFN1,MGC2889,MIR1224,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MRPL47,MUC20,MUC4,NCBP2,NDUFB5,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PEX5L,PIGX,PIGZ,PIK3CA,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,TTC14,UBXN7,USP13,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19,ZMAT3,ZNF639 chr3 178777184 178780230 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZMAT3 chr3 178777204 178780167 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 ZMAT3 chr3 178777909 178779579 Deletion Medulloblastoma Illumina SNP arrays 21163964 ZMAT3 chr3 178784487 178784722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZMAT3 chr3 178794797 179040177 Loss Autism FISH 20685689 KCNMB3,PIK3CA chr3 178824764 178824891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 178824772 178824898 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 178824772 178824899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 178849251 178882003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PIK3CA chr3 178865818 178866301 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 178866172 178872559 Loss Normal 244K array 17666407 PIK3CA chr3 178866310 178952497 Amplification Human papillomavirus FISH 17975027 PIK3CA chr3 178866310 178952497 Gain Adenocarcinoma real-time quantitative PCR 18757405 PIK3CA chr3 178866310 178952497 Gain Lung cancer real-time quantitative PCR 18757405 PIK3CA chr3 178866310 178952497 Gain small cell lung cancer real-time quantitative PCR 18757405 PIK3CA chr3 178866310 178952497 Gain Squamous cell cancer real-time quantitative PCR 18757405 PIK3CA chr3 178874446 178874516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PIK3CA chr3 17888229 17889046 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 17888229 17889046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 178986396 178986467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 179000000 182700000 Gain Esophageal squamous carcinoma Array CGH 17470683 ACTL6A,ATP11B,CCDC39,DCUN1D1,DNAJC19,FLJ46066,FXR1,GNB4,MFN1,MRPL47,NDUFB5,PEX5L,SOX2,SOX2-OT,TTC14,USP13,ZNF639 chr3 179000000 187900000 Loss Prostate cancer Array CGH 16573809 ABCC5,ABCC5-AS1,ABCF3,ACTL6A,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ATP11B,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CCDC39,CHRD,CLCN2,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,FLJ46066,FXR1,GNB4,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,KNG1,LAMP3,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MFN1,MIR1224,MIR1248,MRPL47,NDUFB5,PARL,PEX5L,POLR2H,PSMD2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,THPO,TMEM41A,TRA2B,TTC14,USP13,VPS8,VWA5B2,YEATS2,ZNF639 chr3 179013562 179013652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 179031681 179066348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MFN1,ZNF639 chr3 1 790694 LOH Normal High-resolution SNP genotyping 21211785 CHL1 chr3 179147623 180187651 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACTL6A,GNB4,MRPL47,NDUFB5,PEX5L,USP13 chr3 179149764 179149820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GNB4 chr3 179208154 179208261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 179208162 179208269 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 179208163 179208264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 179231619 179244218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 17923543 17923862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 17925132 21922776 Loss Developmental delay affymetrix genechip 500K/SNP 6.15 array 21147756 EFHB,KAT2B,KCNH8,LOC339862,MIR4791,PP2D1,RAB5A,SATB1,SGOL1,SGOL1-AS1,VENTXP7,ZNF385D chr3 179262838 179264082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 179325259 179370007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDUFB5 chr3 179379191 179379248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP13 chr3 179408569 179408745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 USP13 chr3 179412453 179413453 Gain Chordoma References 21215367 USP13 chr3 1794246 1827782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 179509356 179509456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1795234 1957593 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr3 1795234 1957655 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 179527 1313477 Loss Autism Inheritance 20685689 CHL1,CNTN6 chr3 179574436 179839114 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PEX5L chr3 179574436 180154385 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PEX5L chr3 179586727 179631981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PEX5L chr3 179621239 179638407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PEX5L chr3 179629682 179629771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PEX5L chr3 179629690 179629779 Gain and loss Pancreatic cancer SNP array 17952125 PEX5L chr3 179690771 179690871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PEX5L chr3 179722000 179941000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 PEX5L chr3 179759311 180044911 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 179891519 179891619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 179918113 179918145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180007178 180007273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180007823 180044899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180007823 180044899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180007831 180044919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180025677 180025777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180029918 180030018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180032507 180033632 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 180032798 180033538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 180032900 180033574 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 180050347 180051038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 180057198 180057295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180224221 180272278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180224221 180272278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180224229 180272286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180237517 180273268 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 180240000 181150000 Gain Breast cancer aCGH 21509527 CCDC39,DNAJC19,FXR1,TTC14 chr3 180255625 180256716 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180266142 180266242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180290000 181440000 Deletion Sezary syndrome Array-based CGH 18413736 CCDC39,DNAJC19,FXR1,SOX2,SOX2-OT,TTC14 chr3 180294121 180294315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 180294385 180294489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180294393 180294497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180298213 180298322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180298221 180298327 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180298221 180298328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180349004 180435191 Amplification Glioblastoma multiforme Illumina SNP arrays 22286061 CCDC39 chr3 180349004 180435191 Copy number Autism - 20685689 CCDC39 chr3 180349004 180435191 Copy number Lung cancer - 20668451 CCDC39 chr3 180349004 180435191 Gain or loss Breast cancer - 20668451 CCDC39 chr3 180349004 180435191 Gain or loss Cancer - 20668451 CCDC39 chr3 180349004 180435191 Gain or loss Lung cancer - 20668451 CCDC39 chr3 180349004 180435191 Gain or loss Ovarian cancer - 20668451 CCDC39 chr3 180349004 180435191 Gain or loss Pancreas cancer - 20668451 CCDC39 chr3 180349004 180435191 Gain or loss Prostate cancer - 20668451 CCDC39 chr3 180349004 180435191 Gain Ovarian cancer Array CGH 17875760 CCDC39 chr3 180349004 180435191 Gain Prostate cancer FISH 21113138 CCDC39 chr3 180349005 180435189 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CCDC39 chr3 180349005 180435189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC39 chr3 180349005 180435189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC39 chr3 180369565 180369692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC39 chr3 180369575 180369699 Gain and loss Pancreatic cancer SNP array 17952125 CCDC39 chr3 180369575 180369700 Gain and loss Pancreatic cancer SNP array 17952125 CCDC39 chr3 180369886 180370847 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CCDC39 chr3 180370016 180370847 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CCDC39 chr3 180370284 180374938 Amplification Normal Arbitrated Peel-off 21527027 CCDC39 chr3 180370284 180374938 Amplification Normal Standard peel-off 21527027 CCDC39 chr3 180370329 180374917 Amplification Normal GISTIC2.0 21527027 CCDC39 chr3 180373930 180374930 Gain Chordoma References 21215367 CCDC39 chr3 180399304 180435061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180404265 180405029 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 180412859 180412949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180440491 180467540 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180443259 180467532 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 180443259 180467532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180443259 180467532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180451510 180451599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180524245 180536017 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 180524245 180536017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180528784 180534912 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180535000 190135000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ABCC5,ABCC5-AS1,ABCF3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,ATP11B,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CHRD,CLCN2,CLDN1,CLDN16,CRYGS,DCUN1D1,DGKG,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,FLJ46066,FXR1,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MIR1224,MIR1248,MIR944,PARL,POLR2H,PSMD2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,THPO,TMEM41A,TP63,TPRG1,TPRG1-AS2,TRA2B,VPS8,VWA5B2,YEATS2 chr3 180535303 199335303 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP11B,ATP13A3,ATP13A4,ATP13A5,B3GNT5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DCUN1D1,DGKG,DLG1,DLG1-AS1,DNAJB11,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FLJ46066,FXR1,FYTTD1,GMNC,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KIAA0226,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCCC1,MCF2L2,MFI2,MFI2-AS1,MGC2889,MIR1224,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PIGX,PIGZ,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SOX2,SOX2-OT,SST,ST6GAL1,TBCCD1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,UBXN7,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19 chr3 180536135 180570686 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 180548174 180593700 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 180548174 180593700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180548174 180593700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180548182 180593708 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180585286 180618493 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 180596570 180652065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FXR1 chr3 180596570 180652065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FXR1 chr3 180599696 180652065 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FXR1 chr3 180599704 180652073 Gain and loss Pancreatic cancer SNP array 17952125 FXR1 chr3 180600000 184200000 Amplification Glioblastoma multiforme Agilent Human Genome CGF microarray 244A 22069467 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,ATP11B,B3GNT5,CAMK2N2,CHRD,CLCN2,DCUN1D1,DNAJC19,DVL3,ECE2,EIF2B5,EIF4G1,FAM131A,FLJ46066,FXR1,HTR3C,HTR3D,HTR3E,KLHL24,KLHL6,LAMP3,LOC100505687,MAP6D1,MCCC1,MCF2L2,MIR1224,PARL,POLR2H,PSMD2,SNORD66,SOX2,SOX2-OT,THPO,VWA5B2,YEATS2 chr3 180600000 184200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,ATP11B,B3GNT5,CAMK2N2,CHRD,CLCN2,DCUN1D1,DNAJC19,DVL3,ECE2,EIF2B5,EIF4G1,FAM131A,FLJ46066,FXR1,HTR3C,HTR3D,HTR3E,KLHL24,KLHL6,LAMP3,LOC100505687,MAP6D1,MCCC1,MCF2L2,MIR1224,PARL,POLR2H,PSMD2,SNORD66,SOX2,SOX2-OT,THPO,VWA5B2,YEATS2 chr3 180600000 186000000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,ATP11B,B3GNT5,C3orf65,C3orf70,CAMK2N2,CHRD,CLCN2,DCUN1D1,DGKG,DNAJC19,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4G1,EPHB3,ETV5,FAM131A,FLJ46066,FXR1,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,LAMP3,LIPH,LOC100505687,LOC344887,MAGEF1,MAP3K13,MAP6D1,MCCC1,MCF2L2,MIR1224,PARL,POLR2H,PSMD2,SENP2,SNORD66,SOX2,SOX2-OT,THPO,TMEM41A,TRA2B,VPS8,VWA5B2,YEATS2 chr3 180664828 180665801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FXR1 chr3 180664836 180665809 Gain and loss Pancreatic cancer SNP array 17952125 FXR1 chr3 180747306 180750689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 180763402 180788880 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 180763402 180788882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180763402 180788882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180763410 180788890 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180788951 180805128 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 180788951 180805128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180788951 180805128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180788959 180805136 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180805269 180824981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 180805269 180824981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180805269 180824981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180805277 180828136 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1 80807000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 180815259 180815360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180815267 180815368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180826317 180826851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180853634 180984675 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 180853634 180984675 Gain or loss Cancer - 20668451 NOT_FOUND chr3 180853634 180984675 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 180853634 180984675 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 180853634 180984675 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 180853634 180984675 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 180853635 180984675 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 180853635 180984675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180853635 180984675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180853643 180984683 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180855267 180855367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180862807 180863807 Gain Chordoma References 21215367 NOT_FOUND chr3 180866663 180912406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 180869438 181909862 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SOX2,SOX2-OT chr3 180881304 180881488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 180901892 180901976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 18091751 18091796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339862 chr3 180957055 180958055 Gain Chordoma References 21215367 NOT_FOUND chr3 180961521 180961621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 180980038 180980200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 180980046 180980208 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 180986345 181478968 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-433K arrays 21546498 SOX2,SOX2-OT chr3 181000744 181237211 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 181000744 181237211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181000744 181237211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181000752 181237219 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181005294 181005703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181066609 181066709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1 810937 LOH Normal High-resolution SNP genotyping 21211785 CHL1 chr3 181125623 181125723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181137037 181137501 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr3 181137979 181138079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181171101 181171487 Loss Normal 244K array 17666407 NOT_FOUND chr3 181171487 181174643 Loss Normal 244K array 17666407 NOT_FOUND chr3 181190950 181193863 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 181224532 181224632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 18122602 18645164 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC339862,SATB1 chr3 18123733 18157226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339862 chr3 181237394 181237494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 18124000 50667000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ARPP21,ATRIP,AZI2,BSN,BSN-AS2,C3orf18,C3orf35,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL7A1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCLK3,DHX30,DLEC1,DYNC1LI1,EFHB,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FBXL2,FBXW12,FLJ33065,FLJ39534,FYCO1,GADL1,GLB1,GMPPB,GNAI2,GNAT1,GOLGA4,GORASP1,GPD1L,GPX1,GTDC2,HEMK1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,ITGA9,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC152024,LOC285326,LOC339862,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LTF,LUST,LYZL4,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR128-2,MIR138-1,MIR191,MIR26A1,MIR425,MIR4271,MIR4442,MIR4443,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR564,MIR711,MLH1,MOBP,MON1A,MST1,MST1R,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NGLY1,NICN1,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NRADDP,OSBPL10,OSBPL10-AS1,OXSM,OXSR1,P4HTM,PDCD6IP,PFKFB4,PLCD1,PLXNB1,PP2D1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAB5A,RARB,RASSF1,RBM5,RBM6,RBMS3,RHOA,RNF123,RPL14,RPL15,RPSA,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SEMA3B,SEMA3F,SETD2,SGOL1,SGOL1-AS1,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A20,SMARCC1,SNORA6,SNORA62,SNRK,SNRK-AS1,SPINK8,SS18L2,STAC,STT3B,SUSD5,TCAIM,TCTA,TDGF1,TGFBR2,TGM4,THRB,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TMPPE,TOP2B,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TTC21A,TUSC2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VILL,VIPR1,WDR48,WDR6,XCR1,XIRP1,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 181272592 181305680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 181297216 181468866 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 SOX2,SOX2-OT chr3 181298337 181298427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181356340 181356440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX2-OT chr3 181362345 181362459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX2-OT chr3 181362356 181362466 Gain and loss Pancreatic cancer SNP array 17952125 SOX2-OT chr3 181362375 181362467 Gain and loss Pancreatic cancer SNP array 17952125 SOX2-OT chr3 181365974 181366123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SOX2-OT chr3 181382003 181447344 Amplification Glioblastoma multiforme Array CGH 19115005 SOX2,SOX2-OT chr3 181382773 181382873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOX2-OT chr3 181412675 181413603 Gain and loss Pancreatic cancer SNP array 17952125 SOX2-OT chr3 181413002 181413524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SOX2-OT chr3 181425656 181432270 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 SOX2,SOX2-OT chr3 181506424 181506503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181515692 181515792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181574364 181575608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 181630500 181664738 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 181656284 181656533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 181720380 181720480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181743183 181743318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181743190 181743327 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181743191 181743327 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181759940 181760040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181781539 181781645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181781547 181781650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181781547 181781653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181802625 181818049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181802625 181818049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181802662 181811461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181814491 181938356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181831944 181909315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181936887 181937185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181936890 181937185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 181936895 181937193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181957817 181957849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181973642 181974404 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 181986123 181986223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 181998815 184128391 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-434K arrays 21546498 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,ATP11B,B3GNT5,CAMK2N2,CHRD,CLCN2,DCUN1D1,DVL3,ECE2,EIF2B5,EIF4G1,FAM131A,FLJ46066,HTR3C,HTR3D,HTR3E,KLHL24,KLHL6,LAMP3,LOC100505687,MAP6D1,MCCC1,MCF2L2,MIR1224,PARL,POLR2H,PSMD2,SNORD66,THPO,VWA5B2,YEATS2 chr3 182028494 182030363 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 182028501 182030500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 182060528 182060807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 182077858 182077923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 182088152 182088557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 182088160 182088565 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 182113146 182177642 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ46066 chr3 182113146 182177642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ46066 chr3 182113146 182177642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ46066 chr3 182113164 182177645 Gain and loss Pancreatic cancer SNP array 17952125 FLJ46066 chr3 182184200 182190224 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FLJ46066 chr3 182184200 182190224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ46066 chr3 182184200 182190224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ46066 chr3 182254858 182254958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 182298769 182299008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 182299003 182299165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 18229912 18230005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339862 chr3 182334298 182489344 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 182343000 182608079 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ATP11B chr3 182373981 182374081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 182396798 182396898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 182400758 182401485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 182432219 182432325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 182432227 182432333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 182444583 182444910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 182488882 182488952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 182490834 182490966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 18252245 18252335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339862 chr3 182667290 183123820 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 B3GNT5,DCUN1D1,LAMP3,MCCC1,MCF2L2 chr3 182677334 182677434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCUN1D1 chr3 182700000 184500000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,B3GNT5,CAMK2N2,CHRD,CLCN2,DVL3,ECE2,EIF2B5,EIF4G1,EPHB3,FAM131A,HTR3C,HTR3D,HTR3E,KLHL24,KLHL6,LAMP3,LOC100505687,MAGEF1,MAP6D1,MCCC1,MCF2L2,MIR1224,PARL,POLR2H,PSMD2,SNORD66,THPO,VWA5B2,YEATS2 chr3 182700000 184500000 Gain Esophageal squamous carcinoma Array CGH 17470683 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,B3GNT5,CAMK2N2,CHRD,CLCN2,DVL3,ECE2,EIF2B5,EIF4G1,EPHB3,FAM131A,HTR3C,HTR3D,HTR3E,KLHL24,KLHL6,LAMP3,LOC100505687,MAGEF1,MAP6D1,MCCC1,MCF2L2,MIR1224,PARL,POLR2H,PSMD2,SNORD66,THPO,VWA5B2,YEATS2 chr3 182700000 186000000 Gain and amplification Multiple myeloma Array CGH 16616336 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,B3GNT5,C3orf65,C3orf70,CAMK2N2,CHRD,CLCN2,DGKG,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4G1,EPHB3,ETV5,FAM131A,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,LAMP3,LIPH,LOC100505687,LOC344887,MAGEF1,MAP3K13,MAP6D1,MCCC1,MCF2L2,MIR1224,PARL,POLR2H,PSMD2,SENP2,SNORD66,THPO,TMEM41A,TRA2B,VPS8,VWA5B2,YEATS2 chr3 182700000 187900000 Amplification head and neck squamous cell carcinoma qReal-Time PCR 19451471 ABCC5,ABCC5-AS1,ABCF3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CHRD,CLCN2,CRYGS,DGKG,DNAJB11,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,KNG1,LAMP3,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MIR1224,MIR1248,PARL,POLR2H,PSMD2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SST,ST6GAL1,TBCCD1,THPO,TMEM41A,TRA2B,VPS8,VWA5B2,YEATS2 chr3 182700000 187900000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ABCC5,ABCC5-AS1,ABCF3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CHRD,CLCN2,CRYGS,DGKG,DNAJB11,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,KNG1,LAMP3,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MIR1224,MIR1248,PARL,POLR2H,PSMD2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SST,ST6GAL1,TBCCD1,THPO,TMEM41A,TRA2B,VPS8,VWA5B2,YEATS2 chr3 182700000 187900000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 ABCC5,ABCC5-AS1,ABCF3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CHRD,CLCN2,CRYGS,DGKG,DNAJB11,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,KNG1,LAMP3,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MIR1224,MIR1248,PARL,POLR2H,PSMD2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SST,ST6GAL1,TBCCD1,THPO,TMEM41A,TRA2B,VPS8,VWA5B2,YEATS2 chr3 182700000 187900000 Deletion Cancer Array CGH 17440070 ABCC5,ABCC5-AS1,ABCF3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CHRD,CLCN2,CRYGS,DGKG,DNAJB11,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,KNG1,LAMP3,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MIR1224,MIR1248,PARL,POLR2H,PSMD2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SST,ST6GAL1,TBCCD1,THPO,TMEM41A,TRA2B,VPS8,VWA5B2,YEATS2 chr3 182700000 187900000 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 ABCC5,ABCC5-AS1,ABCF3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CHRD,CLCN2,CRYGS,DGKG,DNAJB11,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FLJ42393,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,KLHL24,KLHL6,KNG1,LAMP3,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MIR1224,MIR1248,PARL,POLR2H,PSMD2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SST,ST6GAL1,TBCCD1,THPO,TMEM41A,TRA2B,VPS8,VWA5B2,YEATS2 chr3 182700000 192300000 Loss Autism References 18414403 ABCC5,ABCC5-AS1,ABCF3,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,AP2M1,B3GNT5,BCL6,C3orf65,C3orf70,CAMK2N2,CCDC50,CHRD,CLCN2,CLDN1,CLDN16,CRYGS,DGKG,DNAJB11,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FETUB,FGF12,FLJ42393,GMNC,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,KLHL24,KLHL6,KNG1,LAMP3,LEPREL1,LIPH,LOC100131635,LOC100505687,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MAP6D1,MASP1,MCCC1,MCF2L2,MIR1224,MIR1248,MIR944,OSTN,PARL,POLR2H,PSMD2,PYDC2,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SST,ST6GAL1,TBCCD1,THPO,TMEM207,TMEM41A,TP63,TPRG1,TPRG1-AS2,TRA2B,UTS2D,VPS8,VWA5B2,YEATS2 chr3 182765470 182765570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCCC1 chr3 18279812 18279910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339862 chr3 182817238 182817273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCCC1 chr3 182900187 182900265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCF2L2 chr3 182912415 182914917 Copy number Glioblastoma multiforme quantitative PCR 22069467 MCF2L2 chr3 182912416 182914915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MCF2L2 chr3 182912416 182914915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MCF2L2 chr3 182912416 182914915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCF2L2 chr3 182912424 182914923 Gain and loss Pancreatic cancer SNP array 17952125 MCF2L2 chr3 1829320 1900851 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr3 182967892 182967992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCF2L2 chr3 182980274 182980535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 B3GNT5,MCF2L2 chr3 182993000 199318000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABCC5,ABCC5-AS1,ABCF3,ACAP2,ADIPOQ,ADIPOQ-AS1,AHSG,ALG3,ANKRD18DP,AP2M1,APOD,ATP13A3,ATP13A4,ATP13A5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CAMK2N2,CCDC50,CEP19,CHRD,CLCN2,CLDN1,CLDN16,CPN2,CRYGS,DGKG,DLG1,DLG1-AS1,DNAJB11,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4A2,EIF4G1,EPHB3,ETV5,FAM131A,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FYTTD1,GMNC,GP5,HES1,HRASLS,HRG,HTR3C,HTR3D,HTR3E,IGF2BP2,IL1RAP,IQCG,KIAA0226,KLHL24,KLHL6,KNG1,LEPREL1,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100505687,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MCF2L2,MFI2,MFI2-AS1,MGC2889,MIR1224,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,OSTN,PAK2,PARL,PCYT1A,PIGX,PIGZ,POLR2H,PPP1R2,PSMD2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SNORD66,SST,ST6GAL1,TBCCD1,TCTEX1D2,TFRC,THPO,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,UBXN7,UTS2D,VPS8,VWA5B2,WDR53,XXYLT1,YEATS2,ZDHHC19 chr3 183013883 183014182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCF2L2 chr3 183013896 183014184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCF2L2 chr3 183013904 183014192 Gain and loss Pancreatic cancer SNP array 17952125 MCF2L2 chr3 183023354 183023472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCF2L2 chr3 183023361 183023480 Gain and loss Pancreatic cancer SNP array 17952125 MCF2L2 chr3 183023362 183023480 Gain and loss Pancreatic cancer SNP array 17952125 MCF2L2 chr3 183066827 183067636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MCF2L2 chr3 183096031 183096662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MCF2L2 chr3 183102781 183102874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MCF2L2 chr3 183315305 183315405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 183390000 184470000 Gain Breast cancer aCGH 21509527 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,CAMK2N2,CHRD,CLCN2,DVL3,ECE2,EIF2B5,EIF4G1,EPHB3,FAM131A,HTR3C,HTR3D,HTR3E,KLHL24,MAGEF1,MAP6D1,MIR1224,PARL,POLR2H,PSMD2,SNORD66,THPO,VWA5B2,YEATS2 chr3 183396056 183396156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL24 chr3 183415905 183415949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 YEATS2 chr3 183474190 185212989 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCC5,ABCC5-AS1,ABCF3,ALG3,AP2M1,C3orf70,CAMK2N2,CHRD,CLCN2,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF2B5,EIF4G1,EPHB3,FAM131A,HTR3C,HTR3D,HTR3E,MAGEF1,MAP3K13,MAP6D1,MIR1224,PARL,POLR2H,PSMD2,SNORD66,THPO,TMEM41A,VPS8,VWA5B2,YEATS2 chr3 183530662 183530737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 18364439 18441828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SATB1 chr3 18364439 18441828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SATB1 chr3 18364439 18455208 Gain and loss Pancreatic cancer SNP array 17952125 SATB1 chr3 183669781 183669881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABCC5 chr3 183749920 183750920 Gain Chordoma References 21215367 HTR3D chr3 183800642 183800742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 183811176 183811903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 183872777 185212989 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCF3,ALG3,AP2M1,C3orf70,CAMK2N2,CHRD,CLCN2,DVL3,ECE2,EHHADH,EHHADH-AS1,EIF4G1,EPHB3,FAM131A,MAGEF1,MAP3K13,MIR1224,POLR2H,PSMD2,SNORD66,THPO,TMEM41A,VPS8,VWA5B2 chr3 183920115 184681481 LOH Normal High-resolution SNP genotyping 21211785 ALG3,CAMK2N2,CHRD,CLCN2,ECE2,EIF4G1,EPHB3,FAM131A,MAGEF1,MIR1224,POLR2H,PSMD2,SNORD66,THPO,VPS8,VWA5B2 chr3 183942100 184580300 LOH Normal High-resolution SNP genotyping 21211785 ALG3,CAMK2N2,CHRD,CLCN2,ECE2,EIF4G1,EPHB3,FAM131A,MAGEF1,MIR1224,POLR2H,PSMD2,SNORD66,THPO,VPS8,VWA5B2 chr3 183993985 184122113 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CHRD,CLCN2,ECE2,EIF4G1,FAM131A,POLR2H,PSMD2,SNORD66,THPO chr3 183993985 184122113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHRD,CLCN2,ECE2,EIF4G1,FAM131A,POLR2H,PSMD2,SNORD66,THPO chr3 183993985 184122113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHRD,CLCN2,ECE2,EIF4G1,FAM131A,POLR2H,PSMD2,SNORD66,THPO chr3 18400000 104400000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATRIP,ATXN7,AZI2,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLASP2,CLDND1,CLEC3B,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL7A1,COL8A1,CPOX,CRTAP,CRYBG3,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,DYNC1LI1,EBLN2,EFHB,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXL2,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GABRR3,GADL1,GBE1,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR128,GPR15,GPR27,GPR62,GPX1,GRM2,GTDC2,GXYLT2,HEMK1,HESX1,HHATL,HIGD1A,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IMPG2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LMOD3,LNP1,LOC100009676,LOC100132146,LOC100287879,LOC100506994,LOC152024,LOC152225,LOC201617,LOC255025,LOC285326,LOC285359,LOC285401,LOC401074,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR564,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MST1,MST1R,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OXSM,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLXNB1,POC1A,POU1F1,PP2D1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD54L2,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SENP7,SETD2,SFMBT1,SGOL1,SGOL1-AS1,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STT3B,STX19,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGFBR2,TGM4,THOC7,THRB,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOMM70A,TOP2B,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBTB11,ZBTB47,ZCWPW2,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860,ZPLD1 chr3 18400000 104400000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATRIP,ATXN7,AZI2,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLASP2,CLDND1,CLEC3B,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL7A1,COL8A1,CPOX,CRTAP,CRYBG3,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,DYNC1LI1,EBLN2,EFHB,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXL2,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GABRR3,GADL1,GBE1,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR128,GPR15,GPR27,GPR62,GPX1,GRM2,GTDC2,GXYLT2,HEMK1,HESX1,HHATL,HIGD1A,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IMPG2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LMOD3,LNP1,LOC100009676,LOC100132146,LOC100287879,LOC100506994,LOC152024,LOC152225,LOC201617,LOC255025,LOC285326,LOC285359,LOC285401,LOC401074,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR564,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MST1,MST1R,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OXSM,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLXNB1,POC1A,POU1F1,PP2D1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD54L2,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SENP7,SETD2,SFMBT1,SGOL1,SGOL1-AS1,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STT3B,STX19,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGFBR2,TGM4,THOC7,THRB,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOMM70A,TOP2B,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBTB11,ZBTB47,ZCWPW2,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860,ZPLD1 chr3 184020750 184122117 Gain and loss Pancreatic cancer SNP array 17952125 CHRD,CLCN2,EIF4G1,FAM131A,POLR2H,PSMD2,SNORD66,THPO chr3 184050426 184050490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF4G1 chr3 184056718 184056792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM131A chr3 184143266 184181028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 184143269 184181020 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 184143269 184181020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 184143269 184181020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 184200000 186000000 Copy number Normal - 21701786 C3orf65,C3orf70,DGKG,EHHADH,EHHADH-AS1,EPHB3,ETV5,IGF2BP2,LIPH,LOC344887,MAGEF1,MAP3K13,SENP2,TMEM41A,TRA2B,VPS8 chr3 184200000 186000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C3orf65,C3orf70,DGKG,EHHADH,EHHADH-AS1,EPHB3,ETV5,IGF2BP2,LIPH,LOC344887,MAGEF1,MAP3K13,SENP2,TMEM41A,TRA2B,VPS8 chr3 184200000 186000000 Gain Barrett's adenocarcinoma FISH 18663352 C3orf65,C3orf70,DGKG,EHHADH,EHHADH-AS1,EPHB3,ETV5,IGF2BP2,LIPH,LOC344887,MAGEF1,MAP3K13,SENP2,TMEM41A,TRA2B,VPS8 chr3 184200000 186000000 Gain Squamous cell cancer array-CGH 19607727 C3orf65,C3orf70,DGKG,EHHADH,EHHADH-AS1,EPHB3,ETV5,IGF2BP2,LIPH,LOC344887,MAGEF1,MAP3K13,SENP2,TMEM41A,TRA2B,VPS8 chr3 184200000 189400000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 ADIPOQ,ADIPOQ-AS1,AHSG,BCL6,C3orf65,C3orf70,CRYGS,DGKG,DNAJB11,EHHADH,EHHADH-AS1,EIF4A2,EPHB3,ETV5,FETUB,FLJ42393,HRG,IGF2BP2,KNG1,LIPH,LOC100131635,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MASP1,MIR1248,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SST,ST6GAL1,TBCCD1,TMEM41A,TP63,TPRG1,TPRG1-AS2,TRA2B,VPS8 chr3 184200000 199501827 Amplification Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ACAP2,ADIPOQ,ADIPOQ-AS1,AHSG,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CCDC50,CEP19,CLDN1,CLDN16,CPN2,CRYGS,DGKG,DLG1,DLG1-AS1,DNAJB11,EHHADH,EHHADH-AS1,EIF4A2,EPHB3,ETV5,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FYTTD1,GMNC,GP5,HES1,HRASLS,HRG,IGF2BP2,IL1RAP,IQCG,KIAA0226,KNG1,LEPREL1,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MASP1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,OSTN,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SST,ST6GAL1,TBCCD1,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,UBXN7,UTS2D,VPS8,WDR53,XXYLT1,ZDHHC19 chr3 184200000 199501827 Deletion Medulloblastoma SNP arrays 21979893 ACAP2,ADIPOQ,ADIPOQ-AS1,AHSG,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CCDC50,CEP19,CLDN1,CLDN16,CPN2,CRYGS,DGKG,DLG1,DLG1-AS1,DNAJB11,EHHADH,EHHADH-AS1,EIF4A2,EPHB3,ETV5,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FYTTD1,GMNC,GP5,HES1,HRASLS,HRG,IGF2BP2,IL1RAP,IQCG,KIAA0226,KNG1,LEPREL1,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAGEF1,MAP3K13,MASP1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,OSTN,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SST,ST6GAL1,TBCCD1,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,UBXN7,UTS2D,VPS8,WDR53,XXYLT1,ZDHHC19 chr3 184215702 184300059 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EPHB3 chr3 184215702 184300059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHB3 chr3 184215702 184300059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHB3 chr3 184215710 184300063 Gain and loss Pancreatic cancer SNP array 17952125 EPHB3 chr3 18421633 18421726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SATB1 chr3 184232026 184232116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 184234513 184628548 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 EPHB3,MAGEF1,VPS8 chr3 184237255 184237387 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 184256409 184256476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 184269753 184269914 Loss Normal 244K array 17666407 NOT_FOUND chr3 184285000 184285092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB3 chr3 184285539 184285639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHB3 chr3 184287564 184295402 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 EPHB3 chr3 184322697 184363361 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 184322697 184363361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 184322697 184363361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 184322698 184363317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 184322706 184363325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 184336189 186044074 Gain Urothelial carcinoma array CGH validated by FISH 21177765 C3orf65,C3orf70,DGKG,EHHADH,EHHADH-AS1,ETV5,IGF2BP2,LIPH,LOC344887,MAGEF1,MAP3K13,SENP2,TMEM41A,TRA2B,VPS8 chr3 184375418 184375489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 184375426 184375497 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 184378525 184628549 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAGEF1,VPS8 chr3 184378525 184628549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAGEF1,VPS8 chr3 184378525 184628549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGEF1,VPS8 chr3 184378533 184628557 Gain and loss Pancreatic cancer SNP array 17952125 MAGEF1,VPS8 chr3 184379501 184384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 184386401 190433100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADIPOQ,ADIPOQ-AS1,AHSG,BCL6,C3orf65,C3orf70,CLDN1,CLDN16,CRYGS,DGKG,DNAJB11,EHHADH,EHHADH-AS1,EIF4A2,ETV5,FETUB,FLJ42393,HRG,IGF2BP2,IL1RAP,KNG1,LEPREL1,LIPH,LOC100131635,LOC253573,LOC344887,LPP,LPP-AS2,MAGEF1,MAP3K13,MASP1,MIR1248,MIR944,RFC4,RPL39L,RTP1,RTP2,RTP4,SENP2,SNORA4,SNORA63,SNORA81,SNORD2,SST,ST6GAL1,TBCCD1,TMEM207,TMEM41A,TP63,TPRG1,TPRG1-AS2,TRA2B,VPS8 chr3 184390041 184390141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1844168 1859889 Deletion Attention deficit hyperactivity disorder - 22138692 NOT_FOUND chr3 184453726 184473872 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 184453726 184473872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 184453726 184473872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 184453747 184473880 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 184458782 184458898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 184458792 184458906 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 184458801 184458905 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 184477454 184477503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 184500000 186000000 Gain Esophageal squamous carcinoma Array CGH 17470683 C3orf65,C3orf70,DGKG,EHHADH,EHHADH-AS1,ETV5,IGF2BP2,LIPH,LOC344887,MAP3K13,SENP2,TMEM41A,TRA2B,VPS8 chr3 184500000 198022430 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ACAP2,ADIPOQ,ADIPOQ-AS1,AHSG,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BCL6,BDH1,C3orf43,C3orf65,C3orf70,CCDC50,CEP19,CLDN1,CLDN16,CPN2,CRYGS,DGKG,DLG1,DLG1-AS1,DNAJB11,EHHADH,EHHADH-AS1,EIF4A2,ETV5,FAM157A,FAM43A,FBXO45,FETUB,FGF12,FLJ34208,FLJ42393,FYTTD1,GMNC,GP5,HES1,HRASLS,HRG,IGF2BP2,IL1RAP,IQCG,KIAA0226,KNG1,LEPREL1,LIPH,LMLN,LOC100128023,LOC100131551,LOC100131635,LOC100507391,LOC152217,LOC220729,LOC253573,LOC344887,LOC401109,LOC647323,LPP,LPP-AS2,LRCH3,LRRC15,LRRC33,LSG1,MAP3K13,MASP1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR1248,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,OSTN,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,PYDC2,RFC4,RNF168,RPL35A,RPL39L,RTP1,RTP2,RTP4,SDHAP1,SDHAP2,SENP2,SENP5,SLC51A,SNAR-I,SNORA4,SNORA63,SNORA81,SNORD2,SST,ST6GAL1,TBCCD1,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM41A,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,TRA2B,UBXN7,UTS2D,VPS8,WDR53,XXYLT1,ZDHHC19 chr3 184511450 184543490 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS8 chr3 184522643 184534936 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VPS8 chr3 184532480 184611940 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 VPS8 chr3 184571357 184571389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPS8 chr3 184617021 184618021 Gain Chordoma References 21215367 VPS8 chr3 184652339 184652470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS8 chr3 184652347 184652478 Gain and loss Pancreatic cancer SNP array 17952125 VPS8 chr3 184652352 184652478 Gain and loss Pancreatic cancer SNP array 17952125 VPS8 chr3 184654296 184654426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS8 chr3 184654304 184654434 Gain and loss Pancreatic cancer SNP array 17952125 VPS8 chr3 184654304 184654436 Gain and loss Pancreatic cancer SNP array 17952125 VPS8 chr3 184654615 184654744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS8 chr3 184654623 184654752 Gain and loss Pancreatic cancer SNP array 17952125 VPS8 chr3 184688013 184756193 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 VPS8 chr3 184688013 184756193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VPS8 chr3 184688013 184756193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VPS8 chr3 184688161 185391577 LOH Normal High-resolution SNP genotyping 21211785 C3orf70,EHHADH,EHHADH-AS1,IGF2BP2,LIPH,MAP3K13,SENP2,TMEM41A,VPS8 chr3 184688161 185391674 LOH Normal High-resolution SNP genotyping 21211785 C3orf70,EHHADH,EHHADH-AS1,IGF2BP2,LIPH,MAP3K13,SENP2,TMEM41A,VPS8 chr3 184691939 184756155 Gain and loss Pancreatic cancer SNP array 17952125 VPS8 chr3 184693150 184693150 Copy number Prostate cancer Illumina GA II sequencer 21307934 VPS8 chr3 184694660 185233710 LOH Normal High-resolution SNP genotyping 21211785 C3orf70,EHHADH,EHHADH-AS1,LIPH,MAP3K13,TMEM41A,VPS8 chr3 184704942 184750778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 VPS8 chr3 184749252 184749664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VPS8 chr3 184836001 184837500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf70 chr3 184836105 184884996 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C3orf70,EHHADH-AS1 chr3 184836105 184884996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf70,EHHADH-AS1 chr3 184836105 184884996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf70,EHHADH-AS1 chr3 184836113 184881434 Gain and loss Pancreatic cancer SNP array 17952125 C3orf70,EHHADH-AS1 chr3 184898300 185013102 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EHHADH,EHHADH-AS1,MAP3K13 chr3 184898300 185013102 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 EHHADH,EHHADH-AS1,MAP3K13 chr3 184898300 185013102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EHHADH,EHHADH-AS1,MAP3K13 chr3 184898300 185013102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EHHADH,EHHADH-AS1,MAP3K13 chr3 184898308 185013113 Gain and loss Pancreatic cancer SNP array 17952125 EHHADH,EHHADH-AS1,MAP3K13 chr3 184982249 184985981 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 185002957 185003035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K13 chr3 185005880 185006380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K13 chr3 185005888 185006388 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K13 chr3 185015501 185026500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAP3K13 chr3 185016364 185026059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K13 chr3 185016364 185026059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K13 chr3 185016372 185026067 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K13 chr3 185019156 185896384 Gain Oral cancer 105K CGH oligonucleotide array 21386901 C3orf65,DGKG,ETV5,IGF2BP2,LIPH,LOC344887,MAP3K13,SENP2,TMEM41A,TRA2B chr3 185021209 185021309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K13 chr3 185029870 185085387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K13 chr3 185029870 185085387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K13 chr3 185029878 185085378 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K13 chr3 185042187 185042287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K13 chr3 185062190 185064506 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MAP3K13 chr3 185088153 185088762 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K13 chr3 185096432 185111426 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K13 chr3 185104501 185110000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAP3K13 chr3 185109118 185110118 Gain Chordoma References 21215367 MAP3K13 chr3 185120087 185120167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K13 chr3 185120420 185218421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAP3K13,TMEM41A chr3 185120420 185218421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP3K13,TMEM41A chr3 185120421 185218379 Gain and loss Pancreatic cancer SNP array 17952125 MAP3K13,TMEM41A chr3 185157051 185157151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP3K13 chr3 18519601 19152100 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 185224234 185257447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIPH chr3 185232026 185239850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIPH chr3 185232026 185239850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPH chr3 185232034 185239858 Gain and loss Pancreatic cancer SNP array 17952125 LIPH chr3 185234642 185234692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LIPH chr3 185253529 185261153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIPH chr3 185253529 185261153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIPH chr3 185253537 185261161 Gain and loss Pancreatic cancer SNP array 17952125 LIPH chr3 185265380 185329933 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 LIPH,SENP2 chr3 185287273 185287385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 185287283 185287393 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 185300661 185307476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SENP2 chr3 185300661 185307476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP2 chr3 185300669 185307484 Gain and loss Pancreatic cancer SNP array 17952125 SENP2 chr3 185316730 185318380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP2 chr3 185335504 185345793 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 SENP2 chr3 185335504 185345793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SENP2 chr3 185335504 185345793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP2 chr3 185335528 185345800 Gain and loss Pancreatic cancer SNP array 17952125 SENP2 chr3 185350449 185350925 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 185355001 185434500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf65,IGF2BP2 chr3 185355977 185374008 Gain or loss Breast cancer - 20668451 IGF2BP2 chr3 185355977 185374008 Gain or loss Cancer - 20668451 IGF2BP2 chr3 185355977 185374008 Gain or loss Lung cancer - 20668451 IGF2BP2 chr3 185355977 185374008 Gain or loss Ovarian cancer - 20668451 IGF2BP2 chr3 185355977 185374008 Gain or loss Pancreas cancer - 20668451 IGF2BP2 chr3 185355977 185374008 Gain or loss Prostate cancer - 20668451 IGF2BP2 chr3 185355978 185374092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185355978 185374092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185355986 185374100 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185357601 185361700 Deletion Glioma mate-paired sequence 20126413 IGF2BP2 chr3 185359510 185360097 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 185375327 185384573 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 IGF2BP2 chr3 185375328 185384572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185375328 185384572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185375345 185384580 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185386588 185394495 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185386678 185394487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185386678 185394487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 18541223 18541323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 185431011 185441034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf65,IGF2BP2 chr3 185431019 185431463 Gain and loss Pancreatic cancer SNP array 17952125 C3orf65,IGF2BP2 chr3 185434501 185442500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf65,IGF2BP2 chr3 185435014 185442810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf65,IGF2BP2 chr3 185435014 185442810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf65,IGF2BP2 chr3 185435022 185442818 Gain and loss Pancreatic cancer SNP array 17952125 C3orf65,IGF2BP2 chr3 185441887 185441971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185442501 185581500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IGF2BP2 chr3 185442811 185449440 Copy number Autism exome sequencing 22495311 IGF2BP2 chr3 185442811 185449440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185442811 185449440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185442915 185449436 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185450139 185493513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185450139 185493513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185450151 185493520 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185453096 185485706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IGF2BP2 chr3 185459696 185461945 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 IGF2BP2 chr3 185459697 185461945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185459697 185461945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185460474 185461953 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185488336 185489826 Loss Autism 1M Ailent CGH whole-genome array 21865298 IGF2BP2 chr3 185499197 185509539 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185499715 185509534 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 IGF2BP2 chr3 185499716 185509534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185499716 185509534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 18550670 18550759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 185515041 185535847 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185515050 185535839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185515050 185535839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185515665 185535840 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 IGF2BP2 chr3 185520956 185535840 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 IGF2BP2 chr3 185526178 185526253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185536415 185546759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185536415 185546759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185536423 185546767 Gain and loss Pancreatic cancer SNP array 17952125 IGF2BP2 chr3 185536778 185536878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IGF2BP2 chr3 185538047 185541942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IGF2BP2 chr3 185546713 185561969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 185547033 185562085 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 185547034 185562085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 185547034 185562085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 18555175 18556395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 185562253 185569057 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 185563888 185569057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 185563888 185569057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 185563896 185569065 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 185568431 185568533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 185572467 185578626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 185572467 185578626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 185572475 185578634 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 185580555 185590311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 185580555 185590311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 185580563 185598335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 185581501 185589500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 185589501 185762000 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC344887,TRA2B chr3 185608067 185608262 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 185631962 185644453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRA2B chr3 185632728 185648546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRA2B chr3 185636764 185668206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRA2B chr3 185637562 185651458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRA2B chr3 185652024 185653347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRA2B chr3 185722480 186778847 LOH Normal High-resolution SNP genotyping 21211785 ADIPOQ,ADIPOQ-AS1,AHSG,CRYGS,DGKG,DNAJB11,EIF4A2,ETV5,FETUB,HRG,KNG1,LOC253573,MIR1248,RFC4,SNORA4,SNORA63,SNORA81,SNORD2,ST6GAL1,TBCCD1 chr3 185753664 185753764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 185762001 185785000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ETV5 chr3 185762280 185782890 Gain or loss Breast cancer - 20668451 ETV5 chr3 185762280 185782890 Gain or loss Cancer - 20668451 ETV5 chr3 185762280 185782890 Gain or loss Lung cancer - 20668451 ETV5 chr3 185762280 185782890 Gain or loss Ovarian cancer - 20668451 ETV5 chr3 185762280 185782890 Gain or loss Pancreas cancer - 20668451 ETV5 chr3 185762280 185782890 Gain or loss Prostate cancer - 20668451 ETV5 chr3 185762281 185782889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ETV5 chr3 185762281 185782889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ETV5 chr3 185762289 185782897 Gain and loss Pancreatic cancer SNP array 17952125 ETV5 chr3 185764401 185764477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETV5 chr3 185766685 185766785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETV5 chr3 18577127 18577227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 185785001 185793000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ETV5 chr3 185793001 185799500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ETV5 chr3 185797276 185797376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ETV5 chr3 185799501 185980500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DGKG,ETV5 chr3 185809534 185809834 Loss Chordoma References 21215367 ETV5 chr3 185861302 185861368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 185893581 185893675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGKG chr3 185907828 185907928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DGKG chr3 185910848 185912530 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 DGKG chr3 185911380 185912303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGKG chr3 185911380 185912303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKG chr3 185911388 185912311 Gain and loss Pancreatic cancer SNP array 17952125 DGKG chr3 185981486 186700422 LOH Normal High-resolution SNP genotyping 21211785 ADIPOQ,ADIPOQ-AS1,AHSG,CRYGS,DGKG,DNAJB11,EIF4A2,FETUB,HRG,KNG1,LOC253573,MIR1248,RFC4,SNORA4,SNORA63,SNORA81,SNORD2,ST6GAL1,TBCCD1 chr3 1859870 2675754 Loss Prostate cancer Array CGH 18632612 CNTN4,CNTN4-AS2 chr3 185999066 187308078 LOH Normal High-resolution SNP genotyping 21211785 ADIPOQ,ADIPOQ-AS1,AHSG,CRYGS,DGKG,DNAJB11,EIF4A2,FETUB,HRG,KNG1,LOC253573,MASP1,MIR1248,RFC4,RPL39L,RTP1,RTP4,SNORA4,SNORA63,SNORA81,SNORD2,ST6GAL1,TBCCD1 chr3 186000000 187500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADIPOQ,ADIPOQ-AS1,AHSG,BCL6,CRYGS,DGKG,DNAJB11,EIF4A2,FETUB,HRG,KNG1,LOC100131635,LOC253573,MASP1,MIR1248,RFC4,RPL39L,RTP1,RTP2,RTP4,SNORA4,SNORA63,SNORA81,SNORD2,SST,ST6GAL1,TBCCD1 chr3 186000000 187500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADIPOQ,ADIPOQ-AS1,AHSG,BCL6,CRYGS,DGKG,DNAJB11,EIF4A2,FETUB,HRG,KNG1,LOC100131635,LOC253573,MASP1,MIR1248,RFC4,RPL39L,RTP1,RTP2,RTP4,SNORA4,SNORA63,SNORA81,SNORD2,SST,ST6GAL1,TBCCD1 chr3 186000000 187900000 Gain Esophageal squamous carcinoma Array CGH 17470683 ADIPOQ,ADIPOQ-AS1,AHSG,BCL6,CRYGS,DGKG,DNAJB11,EIF4A2,FETUB,FLJ42393,HRG,KNG1,LOC100131635,LOC253573,LPP,LPP-AS2,MASP1,MIR1248,RFC4,RPL39L,RTP1,RTP2,RTP4,SNORA4,SNORA63,SNORA81,SNORD2,SST,ST6GAL1,TBCCD1 chr3 186000606 186970807 LOH Normal High-resolution SNP genotyping 21211785 ADIPOQ,ADIPOQ-AS1,AHSG,CRYGS,DGKG,DNAJB11,EIF4A2,FETUB,HRG,KNG1,LOC253573,MASP1,MIR1248,RFC4,RPL39L,RTP1,SNORA4,SNORA63,SNORA81,SNORD2,ST6GAL1,TBCCD1 chr3 186012625 186253096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DGKG,LOC253573 chr3 186012625 186253096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DGKG,LOC253573 chr3 186033253 186253088 Gain and loss Pancreatic cancer SNP array 17952125 DGKG,LOC253573 chr3 186115488 186115588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 186236760 186236895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 186270132 186270201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBCCD1 chr3 186274711 186274811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBCCD1 chr3 186278532 186353496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AHSG,DNAJB11,TBCCD1 chr3 186278532 186353496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AHSG,DNAJB11,TBCCD1 chr3 186283497 186353313 Gain and loss Pancreatic cancer SNP array 17952125 AHSG,DNAJB11,TBCCD1 chr3 186293220 186293305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJB11 chr3 186349807 186349907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 186391108 186454531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HRG,KNG1 chr3 186391108 186454531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HRG,KNG1 chr3 186391116 186454518 Gain and loss Pancreatic cancer SNP array 17952125 HRG,KNG1 chr3 186435135 186435195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KNG1 chr3 18645676 18645776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 186500023 186500347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 186529396 186683293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADIPOQ,ADIPOQ-AS1,ST6GAL1 chr3 186529396 186683293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADIPOQ,ADIPOQ-AS1,ST6GAL1 chr3 186563672 186683317 Gain and loss Pancreatic cancer SNP array 17952125 ADIPOQ,ADIPOQ-AS1,ST6GAL1 chr3 186584116 186589711 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 186589025 186589084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 186589711 186592902 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 186604459 186604609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 186642701 186642799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 186642709 186642807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 186677657 186677708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GAL1 chr3 186680396 186680496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GAL1 chr3 186691493 186699496 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 ST6GAL1 chr3 186691495 186699516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST6GAL1 chr3 186691495 186699516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GAL1 chr3 186691503 186699524 Gain and loss Pancreatic cancer SNP array 17952125 ST6GAL1 chr3 186708282 186753063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST6GAL1 chr3 186708282 186753063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GAL1 chr3 186708296 186753071 Gain and loss Pancreatic cancer SNP array 17952125 ST6GAL1 chr3 18674981 18688143 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 186786724 186831579 Copy number Lung cancer - 20668451 ST6GAL1 chr3 186786724 186831579 Gain or loss Breast cancer - 20668451 ST6GAL1 chr3 186786724 186831579 Gain or loss Cancer - 20668451 ST6GAL1 chr3 186786724 186831579 Gain or loss Lung cancer - 20668451 ST6GAL1 chr3 186786724 186831579 Gain or loss Ovarian cancer - 20668451 ST6GAL1 chr3 186786724 186831579 Gain or loss Pancreas cancer - 20668451 ST6GAL1 chr3 186786724 186831579 Gain or loss Prostate cancer - 20668451 ST6GAL1 chr3 186786725 186831577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ST6GAL1 chr3 186786725 186831577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ST6GAL1 chr3 186786792 186831585 Gain and loss Pancreatic cancer SNP array 17952125 ST6GAL1 chr3 186793396 186825606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST6GAL1 chr3 186795490 186795590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST6GAL1 chr3 186843384 186843484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPL39L chr3 186844228 187025521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MASP1,RPL39L,RTP1 chr3 186844228 187025521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MASP1,RPL39L,RTP1 chr3 186844290 187025514 Gain and loss Pancreatic cancer SNP array 17952125 MASP1,RPL39L,RTP1 chr3 186853679 186853774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RPL39L chr3 186871343 187572981 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCL6,LOC100131635,MASP1,RTP1,RTP2,RTP4,SST chr3 186872911 187573507 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 BCL6,LOC100131635,MASP1,RTP1,RTP2,RTP4,SST chr3 186913774 186918649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RTP1 chr3 186913774 186918649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RTP1 chr3 186913782 186918657 Gain and loss Pancreatic cancer SNP array 17952125 RTP1 chr3 186941030 186941130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MASP1 chr3 186953877 186953915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MASP1 chr3 18696000 18818000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 NOT_FOUND chr3 18696000 18818000 Amplification Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 NOT_FOUND chr3 186994746 186994959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MASP1 chr3 1 8700000 Copy number Endometrioid adenocarcinoma CGH 16974079 ARL8B,BHLHE40,C3orf32,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1,TRNT1 chr3 1 8700000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ARL8B,BHLHE40,C3orf32,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1,TRNT1 chr3 1 8700000 Deletion Sudden cardiac death CGH 19188705 ARL8B,BHLHE40,C3orf32,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1,TRNT1 chr3 1 8700000 Gain Sudden cardiac death CGH 19188705 ARL8B,BHLHE40,C3orf32,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1,TRNT1 chr3 1 8700000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ARL8B,BHLHE40,C3orf32,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1,TRNT1 chr3 187002786 187002886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MASP1 chr3 18704958 18705782 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 18705073 18714770 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr3 187051558 187051593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187110586 187138495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187110586 187138495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187117249 187138503 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 187127621 187127695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187146343 187178238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 187168919 187180320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187172208 187180214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 18719578 18719668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 1 87200000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 87200000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 87200000 Loss Glioblastoma multiforme conventional CGH 21080181 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 187210366 187210424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187225506 187225606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187230000 187990000 Gain Breast cancer aCGH 21509527 BCL6,FLJ42393,LOC100131635,LPP,LPP-AS2,RTP2,SST chr3 187246803 187309571 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 187246803 187309571 Gain or loss Cancer - 20668451 NOT_FOUND chr3 187246803 187309571 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 187246803 187309571 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 187246803 187309571 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 187246803 187309571 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 187246804 187309571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187246804 187309571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187246812 187309579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 187272167 187272576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 187276789 187277065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187276797 187277073 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 187299613 195699154 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACAP2,APOD,ATP13A3,ATP13A4,ATP13A5,BCL6,CCDC50,CLDN1,CLDN16,CPN2,FAM43A,FGF12,FLJ34208,FLJ42393,GMNC,GP5,HES1,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC100131551,LOC100131635,LOC100507391,LOC647323,LPP,LPP-AS2,LRRC15,LSG1,MB21D2,MGC2889,MIR5692C1,MIR570,MIR944,MUC20,MUC4,OPA1,OPA1-AS1,OSTN,PPP1R2,PYDC2,RTP2,SDHAP1,SDHAP2,SNAR-I,SST,TMEM207,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,UTS2D,XXYLT1 chr3 18730822 18731130 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 187309970 187310032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187347686 187562717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BCL6,LOC100131635,RTP2,SST chr3 187347686 187562717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BCL6,LOC100131635,RTP2,SST chr3 187349714 187562705 Gain and loss Pancreatic cancer SNP array 17952125 BCL6,LOC100131635,RTP2,SST chr3 187361282 187361382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187363465 187363545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187380741 187380773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187382682 187384899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 187388516 187388727 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 187400984 187401059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187401496 187401566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187408123 187420198 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100131635,RTP2 chr3 187452212 187452268 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 BCL6 chr3 187498316 187513975 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 187498408 187513975 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 187500000 189400000 Gain Adenocarcinoma array-CGH 19607727 FLJ42393,LPP,LPP-AS2,TP63,TPRG1,TPRG1-AS2 chr3 187500000 189400000 Gain Squamous cell cancer array-CGH 19607727 FLJ42393,LPP,LPP-AS2,TP63,TPRG1,TPRG1-AS2 chr3 187512304 187512639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 187531163 187531257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187561501 187563000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 187577438 187579489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 187610141 187643621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 187641476 187641576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 18764999 18765099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187664713 187665807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 187670807 187670907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187675134 187695363 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 187701265 187701310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187708179 187708211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187738926 187744861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187738926 187744861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187739091 187767831 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 187746824 187767806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187746824 187767806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187767894 187786290 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 187771161 187786282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187771161 187786282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187813544 187821799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187813544 187821799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187813571 187821807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 187819836 188050028 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ42393,LPP,LPP-AS2 chr3 187823146 187823782 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 187826196 187855445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 187831818 187831898 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 187835111 187835313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 187840843 187853488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187840843 187853488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 187840851 187853496 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 187847679 187857597 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 187851329 187866455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 187866492 187878716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP,LPP-AS2 chr3 187866492 187878716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP,LPP-AS2 chr3 187866500 187878724 Gain and loss Pancreatic cancer SNP array 17952125 LPP,LPP-AS2 chr3 187888601 187904200 Deletion Glioma mate-paired sequence 20126413 FLJ42393,LPP chr3 187888817 187895555 Loss Normal Birdsuite, version 1.5.2 22087296 LPP chr3 187890775 187901892 Loss Normal 244K array 17666407 FLJ42393,LPP chr3 187895555 187898214 Loss Normal Birdsuite, version 1.5.2 22087296 FLJ42393,LPP chr3 187898214 187900465 Loss Normal Birdsuite, version 1.5.2 22087296 FLJ42393,LPP chr3 187900000 192300000 Copy number Lung cancer FISH 19547694 CCDC50,CLDN1,CLDN16,FGF12,GMNC,IL1RAP,LEPREL1,LPP,MIR944,OSTN,PYDC2,SNAR-I,TMEM207,TP63,TPRG1,TPRG1-AS2,UTS2D chr3 187900000 192300000 Gain Esophageal squamous carcinoma Array CGH 17470683 CCDC50,CLDN1,CLDN16,FGF12,GMNC,IL1RAP,LEPREL1,LPP,MIR944,OSTN,PYDC2,SNAR-I,TMEM207,TP63,TPRG1,TPRG1-AS2,UTS2D chr3 187900000 198022430 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CCDC50,CEP19,CLDN1,CLDN16,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GMNC,GP5,HES1,HRASLS,IL1RAP,IQCG,KIAA0226,LEPREL1,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LPP,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,OSTN,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,PYDC2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,SNAR-I,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM44,TMEM44-AS1,TNK2,TP63,TPRG1,TPRG1-AS2,UBXN7,UTS2D,WDR53,XXYLT1,ZDHHC19 chr3 1 87900000 Loss head and neck squamous cell carcinoma CGH 17671120 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 187910211 187928781 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LPP chr3 187910211 187932059 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LPP chr3 187917814 187944435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187917814 187944435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187917822 187944443 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187923722 187950189 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LPP chr3 187930720 188608460 Gain Esophageal squamous carcinoma Array CGH 17470683 LPP chr3 187972324 187972430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187972332 187972438 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187984055 187990377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187984055 187990377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187984068 187990385 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187986806 187986928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187986813 187986938 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187986814 187986936 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187987155 187987260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187987783 187987914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187987790 187987924 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187987791 187987922 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187988095 187988232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187988103 187988240 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187988104 187988240 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 187990376 188006984 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 LPP chr3 187990378 188006984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187990378 188006984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 187990386 188006992 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 188025001 188028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LPP chr3 1880282 1916775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 188043157 188058944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188043157 188058944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188043165 188058952 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 188050578 188069458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188052037 188096746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188052842 188099807 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188056994 188080911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188061288 188083512 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188061296 188084675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188061701 188069900 Deletion Glioma mate-paired sequence 20126413 LPP chr3 188063703 188068056 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 LPP chr3 188068291 188068575 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LPP chr3 188092436 188266986 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LPP chr3 188096611 188096690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPP chr3 188100689 188101048 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 188112939 188801602 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LPP chr3 188131210 188279035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188131210 188279035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188131218 188279043 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 188133085 188133496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188140549 188140644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPP chr3 18814883 18815017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 188270653 188315880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188295340 188330140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188306519 188306618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPP chr3 188309350 188309663 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LPP chr3 188321435 188339957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188321435 188339957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188321443 188339965 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 188330598 191679202 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CCDC50,CLDN1,CLDN16,GMNC,IL1RAP,LEPREL1,LPP,MIR944,OSTN,PYDC2,SNAR-I,TMEM207,TP63,TPRG1,TPRG1-AS2,UTS2D chr3 188367308 188398334 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LPP chr3 188397572 188408111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188397968 188401943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188397968 188401943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188397976 188401953 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 188418632 188492446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188418632 188492446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188418644 188492446 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 188443983 188444106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LPP chr3 188446973 190161727 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-395K arrays 21546498 CLDN1,CLDN16,LEPREL1,LPP,MIR944,TMEM207,TP63,TPRG1,TPRG1-AS2 chr3 188459685 189202167 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 LPP,TPRG1,TPRG1-AS2 chr3 188568303 188569303 Gain Chordoma References 21215367 LPP chr3 188568862 188572061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188568862 188572061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LPP chr3 188568870 188572069 Gain and loss Pancreatic cancer SNP array 17952125 LPP chr3 188623797 188623901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 188623805 188623909 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 188644310 189234551 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TPRG1,TPRG1-AS2 chr3 188647808 188648108 Gain Chordoma References 21215367 NOT_FOUND chr3 188655771 188655871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 188682534 188682652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 18869490 18869579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 188700603 188745452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 188760090 188775789 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 188821943 188822043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 188835012 188835161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 188854552 188955506 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TPRG1 chr3 188869399 188870895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 188869399 188870895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 188869407 188870808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 188883025 188883228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 188883215 188883310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 188883218 188883425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 188884190 188884290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 188898741 188903039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPRG1 chr3 188898741 188903039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPRG1 chr3 188898749 188903047 Gain and loss Pancreatic cancer SNP array 17952125 TPRG1 chr3 188921859 188946169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TPRG1 chr3 188921859 188946169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TPRG1 chr3 188921867 188946177 Gain and loss Pancreatic cancer SNP array 17952125 TPRG1 chr3 188954048 189059909 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 TPRG1,TPRG1-AS2 chr3 188956472 189175357 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 TPRG1,TPRG1-AS2 chr3 189028811 189028911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TPRG1 chr3 189053701 194190385 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ATP13A3,ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,CPN2,FGF12,GMNC,GP5,HES1,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC100131551,LOC647323,LRRC15,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189054159 189054259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189062478 189407596 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 TP63 chr3 189122069 190989225 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLDN1,CLDN16,GMNC,IL1RAP,LEPREL1,MIR944,OSTN,SNAR-I,TMEM207,TP63,UTS2D chr3 189207964 189208064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189213601 189219400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 189215519 189217456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 189215539 189217605 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 189224704 189224777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189251002 189261349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 189251633 189916745 Amplification or deletion Cancer Array CGH 17440070 LEPREL1,MIR944,TP63 chr3 1892810 1898213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 18929189 18929277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189322568 189322668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189348830 189348930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189379024 189381290 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 TP63 chr3 189379039 189381300 Gain and loss Pancreatic cancer SNP array 17952125 TP63 chr3 189379637 189380683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TP63 chr3 189392007 189392107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP63 chr3 189400000 193800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 193800000 Deletion Optic atrophy - 21457585 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 193800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 193800000 Duplication Splenic marginal zone lymphoma BAC CGH array 21957467 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 193800000 Gain Adenocarcinoma array-CGH 19607727 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 193800000 Gain Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 193800000 Gain Non-small cell lung cancer dChip 21829676 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 193800000 Gain Non-small cell lung cancer In situ minichips 20864512 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 193800000 Gain Squamous cell cancer array-CGH 19607727 ATP13A4,ATP13A5,CCDC50,CLDN1,CLDN16,FGF12,GMNC,HRASLS,IL1RAP,LEPREL1,LOC100128023,LOC647323,MB21D2,MGC2889,MIR944,OPA1,OPA1-AS1,OSTN,PYDC2,SNAR-I,TMEM207,TP63,UTS2D chr3 189400000 199501827 Gain Breast cancer - 16397240 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CCDC50,CEP19,CLDN1,CLDN16,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GMNC,GP5,HES1,HRASLS,IL1RAP,IQCG,KIAA0226,LEPREL1,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MIR944,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,OSTN,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,PYDC2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,SNAR-I,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM207,TMEM44,TMEM44-AS1,TNK2,TP63,UBXN7,UTS2D,WDR53,XXYLT1,ZDHHC19 chr3 189413414 190080135 Translate Leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 CLDN1,LEPREL1,MIR944,TP63 chr3 189413414 190080135 Translate Lipoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 CLDN1,LEPREL1,MIR944,TP63 chr3 189413415 190080135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLDN1,LEPREL1,MIR944,TP63 chr3 189413415 190080135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLDN1,LEPREL1,MIR944,TP63 chr3 189427525 189439674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TP63 chr3 189526396 189526517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TP63 chr3 189557776 189570118 Gain Normal Birdsuite, version 1.5.2 22087296 TP63 chr3 189557797 190085701 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLDN1,LEPREL1,TP63 chr3 189559690 189564855 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TP63 chr3 189561216 189883113 Gain Normal 244K array 17666407 LEPREL1,TP63 chr3 189589181 189589281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TP63 chr3 189606611 190074969 Gain and loss Pancreatic cancer SNP array 17952125 CLDN1,LEPREL1,TP63 chr3 189630606 189630693 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 189632280 189643427 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 189652792 189653140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 189660878 189660943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189703463 189703557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEPREL1 chr3 18971440 18971545 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 18971440 18971545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 189779806 189779906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEPREL1 chr3 189780489 189780557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEPREL1 chr3 189785401 189789600 Deletion Glioma mate-paired sequence 20126413 LEPREL1 chr3 189787526 189787858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LEPREL1 chr3 18981078 18981358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 18981260 19131053 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 189889263 189889348 Deletion Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr3 189889263 189889348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 189889271 189889356 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 189898331 189898406 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 189940734 189965149 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 18995922 18996072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189988966 189989066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 189999885 189999985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190026093 190026193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLDN1 chr3 190042767 190042856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190155257 190155357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM207 chr3 190156805 190201951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM207 chr3 190185825 190185925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190186761 190186861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190189873 190190218 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 190252704 190252774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL1RAP chr3 19027575 19027675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190351304 190351465 Gain and loss Pancreatic cancer SNP array 17952125 IL1RAP chr3 19035437 19035625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190363296 190363396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL1RAP chr3 190368590 190368690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL1RAP chr3 190372457 190523964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL1RAP chr3 190372457 190523964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL1RAP chr3 190372465 190523972 Gain and loss Pancreatic cancer SNP array 17952125 IL1RAP chr3 190410942 190472489 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 190445467 190446467 Loss Chordoma References 21215367 NOT_FOUND chr3 190469196 190790916 Copy number Lung cancer paired-end sequencing 18438408 GMNC,SNAR-I chr3 190480977 190481096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190512103 190512188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190513660 191032436 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 GMNC,OSTN,SNAR-I,UTS2D chr3 190560817 190584718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GMNC chr3 190563157 190563257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190571178 190600560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GMNC,SNAR-I chr3 190574682 190582761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GMNC chr3 190607743 190607883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190673873 190718545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 190707202 190708065 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr3 190714496 190714596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 190784729 190784796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 190784737 190784804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 190806544 195875751 Copy number Lung cancer paired-end sequencing 18438408 ACAP2,APOD,ATP13A3,ATP13A4,ATP13A5,CCDC50,CPN2,FAM43A,FGF12,FLJ34208,GP5,HES1,HRASLS,LOC100128023,LOC100131551,LOC100507391,LOC401109,LOC647323,LRRC15,LSG1,MB21D2,MGC2889,MIR5692C1,MIR570,MUC20,MUC4,OPA1,OPA1-AS1,OSTN,PPP1R2,PYDC2,SDHAP1,SDHAP2,TFRC,TMEM44,TMEM44-AS1,TNK2,UTS2D,XXYLT1 chr3 190831910 191107935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC50,OSTN,UTS2D chr3 190831910 191107935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC50,OSTN,UTS2D chr3 190831918 191097757 Gain and loss Pancreatic cancer SNP array 17952125 CCDC50,OSTN,UTS2D chr3 190839295 190862883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 190842104 190842272 Loss Normal 244K array 17666407 NOT_FOUND chr3 190842972 190847332 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 190843211 190852955 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 190843211 190852955 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 190844656 190853617 Loss Normal 244K array 17666407 NOT_FOUND chr3 190845849 190854022 Deletion Non-syndromic sensorineural hearing loss 610K,Agilent24M 19587683 NOT_FOUND chr3 190845849 190854022 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 190846115 190853593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 190847118 190849457 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr3 190999256 190999436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UTS2D chr3 190999452 190999552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UTS2D chr3 190999456 190999695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UTS2D chr3 1 91000000 Deletion Insulin resistance - 16721378 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91000000 Deletion Neuroblastoma Affymetrix 50K, 250K SNP arrays from 18664255 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91000000 Gain Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91000000 Gain Multiple myeloma CGH, Real-Time PCR 17077331 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91000000 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 191030405 191030492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UTS2D chr3 191057001 191060900 Deletion Glioma mate-paired sequence 20126413 CCDC50 chr3 191058589 191058910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC50 chr3 191072818 191072918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC50 chr3 191077803 191077903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC50 chr3 191095295 191095424 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CCDC50 chr3 191149374 191576267 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PYDC2 chr3 191149374 194078001 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP13A4,ATP13A5,CPN2,FGF12,HES1,HRASLS,LOC100128023,LOC100131551,LOC647323,LRRC15,MB21D2,MGC2889,OPA1,OPA1-AS1,PYDC2 chr3 191157213 191321407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PYDC2 chr3 191157213 191321407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PYDC2 chr3 191157221 191321415 Gain and loss Pancreatic cancer SNP array 17952125 PYDC2 chr3 191169602 191170325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 191198273 191202469 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 191218001 191225200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 191219101 191231927 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 191219101 191231927 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 191219955 191223268 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 191220014 191223388 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 191220039 191223218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 191220070 191223723 Loss Normal 244K array 17666407 NOT_FOUND chr3 191222891 191222950 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr3 191227807 191228227 Gain Normal 244K array 17666407 NOT_FOUND chr3 19127998 19640299 Gain Autism qPCR, Agilent 1M 20531469 KCNH8,MIR4791 chr3 191290150 191290235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 191319914 191320014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 191322457 191323853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 191365900 191366006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191365908 191366005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1 9140000 Loss Acute lymphoblastic leukemia - 21339820 ARL8B,BHLHE40,C3orf32,CAV3,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LRRN1,MIR4790,OXTR,RAD18,SETMAR,SRGAP3,SUMF1,TRNT1 chr3 191438116 191438416 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr3 1 9146765 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-399K arrays 21546498 ARL8B,BHLHE40,C3orf32,CAV3,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LRRN1,MIR4790,OXTR,RAD18,SETMAR,SRGAP3,SUMF1,TRNT1 chr3 191478297 191478363 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 19147938 19148226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 191497333 191500803 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 191506186 191522909 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 191506197 191522909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191506197 191522909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191506205 191522917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 1915190 1915922 Deletion Autism quantitative PCR 19404257 NOT_FOUND chr3 191534369 191534469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 191588534 191611027 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 191588535 191611027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191588535 191611027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191588543 191611035 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 191601724 191601789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 191605425 191605521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 191629142 191650359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191629142 191650359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191629150 191650367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 191640426 191640526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 19165020 19552139 Copy number Lung cancer - 20668451 KCNH8,MIR4791 chr3 19165020 19552139 Gain or loss Breast cancer - 20668451 KCNH8,MIR4791 chr3 19165020 19552139 Gain or loss Cancer - 20668451 KCNH8,MIR4791 chr3 19165020 19552139 Gain or loss Lung cancer - 20668451 KCNH8,MIR4791 chr3 19165020 19552139 Gain or loss Ovarian cancer - 20668451 KCNH8,MIR4791 chr3 19165020 19552139 Gain or loss Pancreas cancer - 20668451 KCNH8,MIR4791 chr3 19165020 19552139 Gain or loss Prostate cancer - 20668451 KCNH8,MIR4791 chr3 19165021 19552137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNH8,MIR4791 chr3 19165021 19552137 Gain and loss Pancreatic cancer SNP array 17952125 KCNH8,MIR4791 chr3 19165021 19552137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNH8,MIR4791 chr3 191656626 199287624 Gain Epilepsy array CGH 20736978 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 191656626 199287624 Gain Mental retardation array CGH 20736978 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 191656626 199287624 Gain speech impairment array CGH 20736978 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 191679202 194119710 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATP13A4,ATP13A5,CPN2,FGF12,GP5,HES1,HRASLS,LOC100128023,LOC100131551,LOC647323,LRRC15,MB21D2,MGC2889,OPA1,OPA1-AS1 chr3 1 91700000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Deletion Ewing's sarcoma CGH(Reference) 21437220 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Deletion Neuroblastoma FISH 21484798 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Deletion Non-small cell lung cancer Array comparative genomic hybridization 21044232 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Deletion Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Deletion Oral cancer array comparative genomic hybridization 19627613 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Deletion Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Gain Liposarcoma FISH, CGH 21253554 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Gain or loss Endometrial cancer CGH 22040021 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Indels Pancreatic endocrine tumor FISH 20981439 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Loss Astrocytoma CGH 17387387 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Loss Breast cancer aCGH 21264507 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Loss Esophageal squamous carcinoma CGH 21637470 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Loss Glioblastoma multiforme CGH 17387387 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Loss Liposarcoma FISH, CGH 21253554 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Loss of heterozygosity Cutaneous squamous cell carcinomas 250K Nsp SNP array 19131950 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 1 91700000 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 191714584 191851995 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 191714585 191851995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191714585 191851995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191714593 191858545 Gain and loss Pancreatic cancer SNP array 17952125 FGF12 chr3 19172578 19172659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 191726147 192266394 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FGF12 chr3 191739834 191739889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 191756192 191756292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 191773334 191773630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 191842646 191842958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 191842654 191842899 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 191842654 191842979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 191846266 191858537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF12 chr3 191846674 198721754 Deletion Normal Arbitrated Peel-off 21527027 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 191846674 198721754 Deletion Normal GeneGISTIC 21527027 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 191846674 198721754 Deletion Normal Standard peel-off 21527027 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 191870428 191903731 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FGF12 chr3 191886018 191887018 Loss Chordoma References 21215367 FGF12 chr3 191915942 191916890 Gain and loss Pancreatic cancer SNP array 17952125 FGF12 chr3 191933217 191933307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF12 chr3 191952354 192881668 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FGF12,MB21D2 chr3 191956036 191956136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF12 chr3 191961151 191961324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF12 chr3 191973168 191973241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF12 chr3 192023109 192023289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF12 chr3 192023117 192023297 Gain and loss Pancreatic cancer SNP array 17952125 FGF12 chr3 192031798 192032656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF12 chr3 192053362 192061350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGF12 chr3 192053362 192061350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF12 chr3 192083795 192083846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF12 chr3 192152492 192152814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF12 chr3 192179336 192179631 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF12 chr3 19217997 19288605 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 KCNH8 chr3 192218235 192218335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF12 chr3 1922399 1922812 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 192241618 196987037 Deletion Normal Standard GISTIC 21527027 ACAP2,APOD,ATP13A3,ATP13A4,ATP13A5,C3orf43,CEP19,CPN2,DLG1,FAM43A,FBXO45,FGF12,FLJ34208,GP5,HES1,HRASLS,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC401109,LOC647323,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR5692C1,MIR570,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 1922431 1922812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 192269772 192270635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FGF12 chr3 192300000 198022430 Amplification Congenital anomalies of the kidney and urinary tract FISH 20299530 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 192300000 198022430 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 192300000 198022430 Duplication Mental retardation array CGH 17124404 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 192300000 198022430 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 192300000 198022430 Gain Esophageal squamous carcinoma Array CGH 17470683 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,ATP13A5,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FGF12,FLJ34208,FYTTD1,GP5,HES1,HRASLS,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MB21D2,MFI2,MFI2-AS1,MGC2889,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 192349713 192500458 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FGF12 chr3 192349713 192698298 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FGF12,MB21D2 chr3 192349713 192698298 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FGF12,MB21D2 chr3 192349713 192761809 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FGF12,MB21D2 chr3 19235796 19235896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH8 chr3 192413016 192450604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGF12 chr3 192413016 192450604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF12 chr3 192413024 192450612 Gain and loss Pancreatic cancer SNP array 17952125 FGF12 chr3 192448991 192449991 Gain Chordoma References 21215367 NOT_FOUND chr3 192467652 192531019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MB21D2 chr3 192467652 192531019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MB21D2 chr3 192468877 192482729 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 192490895 196660251 Gain Developmental delay affymetrix genechip 500K/SNP 6.20 array 21147756 ACAP2,APOD,ATP13A3,ATP13A4,ATP13A5,C3orf43,CEP19,CPN2,FAM43A,FBXO45,FLJ34208,GP5,HES1,HRASLS,LOC100128023,LOC100131551,LOC100507391,LOC401109,LOC647323,LRRC15,LRRC33,LSG1,MB21D2,MGC2889,MIR5692C1,MIR570,MUC20,MUC4,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PPP1R2,RNF168,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 192493905 192496361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 192517625 192517714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MB21D2 chr3 192519000 192546167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MB21D2 chr3 192529568 192592710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MB21D2 chr3 192529568 192592710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MB21D2 chr3 192529576 192592666 Gain and loss Pancreatic cancer SNP array 17952125 MB21D2 chr3 192538953 192554508 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 MB21D2 chr3 192538953 192554508 Total allelic loss Normal High-resolution SNP genotyping 21211785 MB21D2 chr3 192542016 192564038 Deletion Mortal Illumina 550K array 21835882 MB21D2 chr3 192543778 192554508 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 MB21D2 chr3 192543778 192554508 Total allelic loss Normal High-resolution SNP genotyping 21211785 MB21D2 chr3 192543778 192556160 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 MB21D2 chr3 192543778 192556160 Total allelic loss Normal High-resolution SNP genotyping 21211785 MB21D2 chr3 192543778 193575662 LOH Normal High-resolution SNP genotyping 21211785 ATP13A4,ATP13A5,HRASLS,MB21D2,MGC2889,OPA1,OPA1-AS1 chr3 192543778 193576147 LOH Normal High-resolution SNP genotyping 21211785 ATP13A4,ATP13A5,HRASLS,MB21D2,MGC2889,OPA1,OPA1-AS1 chr3 192547346 192554373 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MB21D2 chr3 192547379 192554352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MB21D2 chr3 192547425 192554326 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 MB21D2 chr3 192547501 192554000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MB21D2 chr3 192623705 192623761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MB21D2 chr3 192629620 192629720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MB21D2 chr3 192657638 192681754 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 192661646 192661939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 192661646 192661939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 192744901 192750800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 192767319 192984913 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 HRASLS,MGC2889 chr3 19279826 19279858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH8 chr3 192841618 192841720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 192841627 192841726 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 192841627 192841727 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 192841812 192841907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 192841816 192841915 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 192841824 192841915 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 192885307 192885347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 192932001 192932101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 192932243 193793914 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATP13A4,ATP13A5,HRASLS,LOC100128023,LOC647323,MGC2889,OPA1,OPA1-AS1 chr3 192941521 192941586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 192986621 192986721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HRASLS chr3 192987415 192991706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HRASLS chr3 19299706 21266691 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-401K arrays 21546498 EFHB,KAT2B,KCNH8,MIR4791,PP2D1,RAB5A,SGOL1,SGOL1-AS1 chr3 193018828 193018907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP13A5 chr3 193024788 193024877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP13A5 chr3 193057903 193058003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP13A5 chr3 193063574 193063936 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP13A5 chr3 193063598 193063894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP13A5 chr3 193098573 193098657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 193140000 197790000 Gain Breast cancer aCGH 21509527 ACAP2,ANKRD18DP,APOD,ATP13A3,ATP13A4,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,OPA1,OPA1-AS1,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193176437 193176507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATP13A4 chr3 193181716 193181803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP13A4 chr3 193204588 193224773 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATP13A4 chr3 193207348 193224773 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATP13A4 chr3 193210461 193224773 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATP13A4 chr3 193227946 193228946 Gain Chordoma References 21215367 ATP13A4 chr3 193293605 193293919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 193293613 193293892 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 193293613 193293948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 193338780 193339117 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 OPA1,OPA1-AS1 chr3 193338780 193339117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OPA1,OPA1-AS1 chr3 193342421 193928066 Gain or loss Breast cancer - 20668451 HES1,LOC100128023,LOC647323,OPA1,OPA1-AS1 chr3 193342421 193928066 Gain or loss Cancer - 20668451 HES1,LOC100128023,LOC647323,OPA1,OPA1-AS1 chr3 193342421 193928066 Gain or loss Lung cancer - 20668451 HES1,LOC100128023,LOC647323,OPA1,OPA1-AS1 chr3 193342421 193928066 Gain or loss Ovarian cancer - 20668451 HES1,LOC100128023,LOC647323,OPA1,OPA1-AS1 chr3 193342421 193928066 Gain or loss Pancreas cancer - 20668451 HES1,LOC100128023,LOC647323,OPA1,OPA1-AS1 chr3 193342421 193928066 Gain or loss Prostate cancer - 20668451 HES1,LOC100128023,LOC647323,OPA1,OPA1-AS1 chr3 193342424 193609532 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 OPA1,OPA1-AS1 chr3 193342424 193609532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OPA1,OPA1-AS1 chr3 193342424 193609532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OPA1,OPA1-AS1 chr3 193343000 193609540 Gain and loss Pancreatic cancer SNP array 17952125 OPA1,OPA1-AS1 chr3 193353958 193354185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPA1 chr3 193372644 193374006 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OPA1 chr3 193373144 193373233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OPA1 chr3 193376800 193661874 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 OPA1 chr3 193381334 193472682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPA1 chr3 193414727 193431907 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OPA1 chr3 193420026 193471340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 193420269 193420663 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 193420663 193470750 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 193458816 193460024 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 19346584 20091081 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EFHB,KAT2B,KCNH8,MIR4791,PP2D1,RAB5A chr3 193470750 193471713 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 193471387 193479466 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 193471387 193479466 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr3 193489357 193489456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 193545876 193546185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 193578442 193578966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 1935843 1935943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 193605462 193606150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 193633588 198504724 Gain Prostate cancer Array CGH 18632612 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100128023,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LOC647323,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193676429 193867400 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 HES1,LOC100128023,LOC647323 chr3 193688890 193722469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100128023,LOC647323 chr3 193715874 193715974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC647323 chr3 193734493 193734595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 193734501 193734603 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 19379724 19379824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH8 chr3 193800000 199501827 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Deletion Neurodevelopmental disorder FISH 16760732 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Deletion or duplication Mental retardation References 19951919 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Deletion Schizophrenia - 22118685 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Deletion Schizophrenia ref 20970697 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Duplication Autism ref 20970697 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Duplication Developmental delay array CGH 18471269 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Duplication Intellectual disability - 22045946 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Gain Adenocarcinoma array-CGH 19607727 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Gain Breast cancer aCGH 21045282 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Gain Cervical cancer Array CGH 21063398 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Gain Ovarian cancer Affymetrix 20844748 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Gain Squamous cell cancer array-CGH 19607727 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Microdeletion 3q29 microdeletion syndrome Affymetrix Genome Wide Human SNP Array 6.0, quantitative PCR 20500065 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Microdeletion 3q29 microdeletion syndrome MLPA 22283845 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Microdeletion Biliary cancer FISH 20453639 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Microdeletion Developmental delay array CGH 18471269 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193800000 199501827 Microdeletions 3q29 microdeletion syndrome aCGH 21626679 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,HES1,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193803837 193803937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 193841585 193841890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 19386494 19567859 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 KCNH8 chr3 193889308 193889468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 193889471 193889672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 193926747 199501827 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 193930038 193930200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 193930046 193930199 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 193930046 193930201 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 193958031 193965615 Loss Normal 244K array 17666407 NOT_FOUND chr3 1939912 1940012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 193997300 194118644 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CPN2,GP5,LOC100131551,LRRC15 chr3 193997301 194118644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPN2,GP5,LOC100131551,LRRC15 chr3 193997301 194118644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPN2,GP5,LOC100131551,LRRC15 chr3 193997309 194118652 Gain and loss Pancreatic cancer SNP array 17952125 CPN2,GP5,LOC100131551,LRRC15 chr3 194000401 199501827 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACAP2,ANKRD18DP,APOD,ATP13A3,BDH1,C3orf43,CEP19,CPN2,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FLJ34208,FYTTD1,GP5,IQCG,KIAA0226,LMLN,LOC100131551,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC15,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 194079645 194079689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC15 chr3 194117278 194117317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GP5 chr3 194119710 196872376 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACAP2,APOD,ATP13A3,C3orf43,CEP19,DLG1,FAM43A,FBXO45,FLJ34208,GP5,LOC100507391,LOC152217,LOC401109,LRRC33,LSG1,MFI2,MFI2-AS1,MIR5692C1,MIR570,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TMEM44,TMEM44-AS1,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 194135946 194136036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ATP13A3 chr3 194156014 194156081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ATP13A3 chr3 194210654 194210736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 194225201 194229200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 194227048 194227587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 194259554 194265292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 194260078 194265257 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 194260221 194265266 Loss Normal 244K array 17666407 NOT_FOUND chr3 194279079 194450436 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM43A,LOC100507391,LSG1,TMEM44,TMEM44-AS1 chr3 194311609 194315503 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TMEM44 chr3 194318281 194353677 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMEM44 chr3 194344630 194377582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSG1,TMEM44 chr3 194347994 194371544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSG1,TMEM44 chr3 194349096 194374716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSG1,TMEM44 chr3 194350079 194365597 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LSG1,TMEM44 chr3 194351132 194370305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSG1,TMEM44 chr3 194354230 194371478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LSG1 chr3 194355172 194365597 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LSG1 chr3 194355593 194365597 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LSG1 chr3 194355593 194369129 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LSG1 chr3 194356001 194370100 Deletion Glioma mate-paired sequence 20126413 LSG1 chr3 194356545 194368544 Deletion Normal TaqMan assays 20972442 LSG1 chr3 194357442 194369116 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LSG1 chr3 194357874 194369116 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 LSG1 chr3 194357972 194368222 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LSG1 chr3 194358024 194368099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LSG1 chr3 194358041 194368093 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LSG1 chr3 194358045 194368335 Loss or gain Normal 244K array 17666407 LSG1 chr3 194358152 194367451 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 LSG1 chr3 194358152 194367451 Total allelic loss Normal High-resolution SNP genotyping 21211785 LSG1 chr3 194358152 194368701 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 LSG1 chr3 194358152 194368701 Total allelic loss Normal High-resolution SNP genotyping 21211785 LSG1 chr3 194358885 194366950 Insert Cancer ultra-high resolution array CGH 21272361 LSG1 chr3 194359584 194367451 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 LSG1 chr3 194359584 194367451 Total allelic loss Normal High-resolution SNP genotyping 21211785 LSG1 chr3 194359584 194368701 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 LSG1 chr3 194359584 194368701 Total allelic loss Normal High-resolution SNP genotyping 21211785 LSG1 chr3 194360584 194365585 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LSG1 chr3 194360584 194365610 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 LSG1 chr3 194360596 194365597 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LSG1 chr3 194360656 194365597 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LSG1 chr3 194360656 194365597 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LSG1 chr3 194360656 194365597 Gain or loss Normal Birdsuite, version 1.5.2 22087296 LSG1 chr3 194364045 194364138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LSG1 chr3 194368701 198797026 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACAP2,ANKRD18DP,APOD,BDH1,C3orf43,CEP19,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FYTTD1,IQCG,KIAA0226,LMLN,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 194368701 199501827 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ACAP2,ANKRD18DP,APOD,BDH1,C3orf43,CEP19,DLG1,DLG1-AS1,FAM157A,FAM43A,FBXO45,FYTTD1,IQCG,KIAA0226,LMLN,LOC100507391,LOC152217,LOC220729,LOC401109,LRCH3,LRRC33,LSG1,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 194368821 194368868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LSG1 chr3 194426530 194426625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 194441608 194471337 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100507391 chr3 194441608 194471337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507391 chr3 194441608 194471337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507391 chr3 194441616 194471345 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507391 chr3 194448746 194448844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100507391 chr3 194475287 194512423 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507391 chr3 194475525 194579208 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100507391 chr3 194475525 194579208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100507391 chr3 194475525 194579208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507391 chr3 194517723 194517793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 194586374 194587374 Loss Chordoma References 21215367 NOT_FOUND chr3 194602559 194755390 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 194602563 194755470 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 194602563 194755470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 194602563 194755470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 194602569 194755398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 194606361 194645406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 194610726 194640842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 194617068 194626553 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 194618158 194625629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 194637290 194637601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 194667059 194667129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 194714920 194715158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 194716602 194886348 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 XXYLT1 chr3 194731309 194731404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 194768332 194768518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 194779748 194779834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 194793707 194898294 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 XXYLT1 chr3 194793707 194898294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XXYLT1 chr3 194793707 194898294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XXYLT1 chr3 194793805 194898009 Deletion Autosomal-dominant optic trophy a targeted comparative genomic hybridization (CGH) 21036400 XXYLT1 chr3 194793805 194898009 Duplication Autosomal-dominant optic trophy a targeted comparative genomic hybridization (CGH) 21036400 XXYLT1 chr3 194793814 194898017 Gain and loss Pancreatic cancer SNP array 17952125 XXYLT1 chr3 19480273 19512648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNH8 chr3 194813394 194814394 Gain Chordoma References 21215367 XXYLT1 chr3 194824672 194824784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XXYLT1 chr3 194824680 194824790 Gain and loss Pancreatic cancer SNP array 17952125 XXYLT1 chr3 194852224 194852324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XXYLT1 chr3 194854449 194854537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XXYLT1 chr3 194899873 194931805 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 XXYLT1 chr3 194906338 194920346 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 XXYLT1 chr3 194906338 194927268 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 XXYLT1 chr3 194906578 194920346 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 XXYLT1 chr3 194940972 194941169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XXYLT1 chr3 194940980 194941177 Gain and loss Pancreatic cancer SNP array 17952125 XXYLT1 chr3 194947608 198141010 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ACAP2,ANKRD18DP,APOD,BDH1,C3orf43,CEP19,DLG1,DLG1-AS1,FAM157A,FBXO45,FYTTD1,IQCG,KIAA0226,LMLN,LOC152217,LOC220729,LOC401109,LRCH3,LRRC33,MFI2,MFI2-AS1,MIR4797,MIR5692C1,MIR570,MIR922,MUC20,MUC4,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,PPP1R2,RNF168,RPL35A,SDHAP1,SDHAP2,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TNK2,UBXN7,WDR53,XXYLT1,ZDHHC19 chr3 19495856 19540673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNH8 chr3 194991089 194991132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XXYLT1 chr3 194999473 194999566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ACAP2 chr3 19506301 20417100 Copy number Normal ReadDepth: A Parallel R Package 21305028 EFHB,KAT2B,KCNH8,PP2D1,RAB5A,SGOL1,SGOL1-AS1 chr3 195157857 195204142 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ACAP2 chr3 195157857 195204142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACAP2 chr3 1 9517825 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 ARL8B,BHLHE40,C3orf32,CAV3,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LOC440944,LRRN1,MIR4790,OXTR,RAD18,SETD5,SETMAR,SRGAP3,SUMF1,THUMPD3,TRNT1 chr3 195193985 195194070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 195228501 195465000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APOD,MIR570,MUC20,PPP1R2,SDHAP2 chr3 195336628 195339066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 195336628 195339066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195336628 195339066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195336636 195339098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 195346160 195346450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195346161 195346454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195346169 195346462 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 195364935 195365127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195364943 195365135 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 195368842 195388665 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SDHAP2 chr3 195424717 195424817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 195450039 195450071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MUC20 chr3 19545994 20193797 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EFHB,KAT2B,KCNH8,PP2D1,RAB5A chr3 195464072 195497968 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MUC20,MUC4 chr3 195465001 195587000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MUC4 chr3 195478 212932 Loss Normal 244K array 17666407 NOT_FOUND chr3 195483035 195483135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MUC4 chr3 195488267 195513284 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MUC4 chr3 195488267 195513284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MUC4 chr3 195505338 195505401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MUC4 chr3 195515859 195515959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MUC4 chr3 19553599 19553699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNH8 chr3 195542189 195553350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195542189 195553350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195542190 195553306 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 195542198 195553314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 195557272 195571761 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 195557274 195571761 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 195557274 195571761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195557274 195571761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195557282 195571769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 195566223 195598337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TNK2 chr3 195596839 195601284 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNK2 chr3 195596839 195601284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNK2 chr3 195598626 195600308 Gain and loss Pancreatic cancer SNP array 17952125 TNK2 chr3 195600501 195605200 Deletion Glioma mate-paired sequence 20126413 TNK2 chr3 195602454 195603210 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TNK2 chr3 195604692 195664208 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TNK2 chr3 195604698 195670257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TNK2 chr3 195604706 195664216 Gain and loss Pancreatic cancer SNP array 17952125 TNK2 chr3 195606028 195606092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNK2 chr3 195628899 195628999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNK2 chr3 195687962 196237808 LOH Normal High-resolution SNP genotyping 21211785 C3orf43,LOC401109,PCYT1A,RNF168,SDHAP1,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,UBXN7,ZDHHC19 chr3 195700704 195703392 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDHAP1 chr3 195700704 195703392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SDHAP1 chr3 195700712 195703400 Gain and loss Pancreatic cancer SNP array 17952125 SDHAP1 chr3 195704821 195717408 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SDHAP1 chr3 1 95713000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC255025,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NSUN3,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,STX19,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 195735521 195735598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195735529 195735606 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 195771572 195771817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 195789692 195835707 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 TFRC chr3 195789692 195835707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TFRC chr3 195789692 195835707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TFRC chr3 195789705 195835715 Gain and loss Pancreatic cancer SNP array 17952125 TFRC chr3 195805379 198076166 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ANKRD18DP,BDH1,C3orf43,CEP19,DLG1,DLG1-AS1,FAM157A,FBXO45,FYTTD1,IQCG,KIAA0226,LMLN,LOC152217,LOC220729,LOC401109,LRCH3,LRRC33,MFI2,MFI2-AS1,MIR4797,MIR922,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,RNF168,RPL35A,SENP5,SLC51A,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,UBXN7,WDR53,ZDHHC19 chr3 195842814 195874209 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC401109 chr3 195842814 195874209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC401109 chr3 195842814 195874209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC401109 chr3 195842822 195874217 Gain and loss Pancreatic cancer SNP array 17952125 LOC401109 chr3 195865375 195865766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 195865375 195865794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 195869183 195869234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195878201 195883500 Deletion Glioma mate-paired sequence 20126413 LOC401109 chr3 195880045 195881652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC401109 chr3 195887911 195891051 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 195887911 195891051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195887911 195891051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 195888710 195890554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 195890854 196244546 Copy number Lung cancer paired-end sequencing 18438408 C3orf43,PCYT1A,RNF168,SLC51A,TCTEX1D2,TM4SF19,TM4SF19-TCTEX1D2,UBXN7,ZDHHC19 chr3 195896682 195896782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 195905132 195937419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZDHHC19 chr3 195942547 195987222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCYT1A,SLC51A chr3 195957501 195959500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLC51A chr3 195957765 195958547 Gain and loss Pancreatic cancer SNP array 17952125 SLC51A chr3 195959501 196232500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PCYT1A,RNF168,SLC51A,TCTEX1D2,TM4SF19,TM4SF19-TCTEX1D2,UBXN7 chr3 196000532 196000592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCYT1A chr3 196006282 198377353 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ANKRD18DP,BDH1,C3orf43,CEP19,DLG1,DLG1-AS1,FAM157A,FBXO45,FYTTD1,IQCG,KIAA0226,LMLN,LOC152217,LOC220729,LRCH3,LRRC33,MFI2,MFI2-AS1,MIR4797,MIR922,NCBP2,PAK2,PCYT1A,PIGX,PIGZ,RNF168,RPL35A,SENP5,TCTEX1D2,TM4SF19,TM4SF19-TCTEX1D2,UBXN7,WDR53 chr3 196024580 196027545 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TCTEX1D2 chr3 196035001 196039200 Deletion Glioma mate-paired sequence 20126413 TCTEX1D2 chr3 196037038 196037973 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 TCTEX1D2 chr3 196046201 196050000 Deletion Glioma mate-paired sequence 20126413 TM4SF19-TCTEX1D2 chr3 196087929 196115865 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBXN7 chr3 196087941 196091928 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 UBXN7 chr3 196096012 196096327 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBXN7 chr3 196096013 196096328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UBXN7 chr3 196106568 196123122 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 UBXN7 chr3 196225350 196225600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF168 chr3 196232501 196298000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf43,FBXO45,WDR53 chr3 1962544 2173808 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-398K arrays 21546498 CNTN4,CNTN4-AS2 chr3 196260156 198443158 Copy number Lung cancer paired-end sequencing 18438408 ANKRD18DP,BDH1,CEP19,DLG1,DLG1-AS1,FAM157A,FBXO45,FYTTD1,IQCG,KIAA0226,LMLN,LOC152217,LOC220729,LRCH3,LRRC33,MFI2,MFI2-AS1,MIR4797,MIR922,NCBP2,PAK2,PIGX,PIGZ,RPL35A,SENP5,WDR53 chr3 196267276 196269779 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 196267328 196270411 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 196267328 196270411 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr3 196267467 196270312 Loss Normal 244K array 17666407 NOT_FOUND chr3 196270306 196473166 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CEP19,FBXO45,LRRC33,PAK2,PIGX,WDR53 chr3 196270306 196473166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP19,FBXO45,LRRC33,PAK2,PIGX,WDR53 chr3 196270306 196473166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP19,FBXO45,LRRC33,PAK2,PIGX,WDR53 chr3 196270627 196473160 Gain and loss Pancreatic cancer SNP array 17952125 CEP19,FBXO45,LRRC33,PAK2,PIGX,WDR53 chr3 196296787 196296872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXO45 chr3 196298001 196453000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CEP19,FBXO45,LRRC33,PIGX chr3 196335426 196496805 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 CEP19,LRRC33,PAK2,PIGX chr3 196348746 196349021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 196348748 196349021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 196348754 196349029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 196416805 196416911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 196416813 196416919 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 196453001 196463000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PIGX chr3 196476768 196645041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PAK2,SENP5 chr3 196476768 196645041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PAK2,SENP5 chr3 196476768 196645041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAK2,SENP5 chr3 196476776 196645049 Gain and loss Pancreatic cancer SNP array 17952125 PAK2,SENP5 chr3 196482296 197062771 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-392K arrays 21546498 DLG1,DLG1-AS1,LOC152217,MFI2,MFI2-AS1,MIR4797,NCBP2,PAK2,PIGZ,SENP5 chr3 196502065 196502363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAK2 chr3 196530151 196530251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PAK2 chr3 196596939 196597180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SENP5 chr3 196621454 196621564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP5 chr3 196621464 196621572 Gain and loss Pancreatic cancer SNP array 17952125 SENP5 chr3 196653287 196698220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC152217,NCBP2,PIGZ,SENP5 chr3 196661431 196661486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SENP5 chr3 196661439 196661494 Gain and loss Pancreatic cancer SNP array 17952125 SENP5 chr3 196675858 196961756 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DLG1,MFI2,MFI2-AS1,PIGZ chr3 196680798 196691797 Loss Normal TaqMan assays 20972442 PIGZ chr3 196700016 196703337 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 196722514 196751362 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MFI2,MFI2-AS1 chr3 196722514 196751362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MFI2,MFI2-AS1 chr3 196722514 196751362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFI2,MFI2-AS1 chr3 196722522 196751370 Gain and loss Pancreatic cancer SNP array 17952125 MFI2,MFI2-AS1 chr3 196731196 196731308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFI2,MFI2-AS1 chr3 196731204 196731316 Gain and loss Pancreatic cancer SNP array 17952125 MFI2,MFI2-AS1 chr3 196743686 197290525 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-420K arrays 21546498 BDH1,DLG1,DLG1-AS1,MFI2,MIR4797 chr3 196760487 196932581 Deletion Normal Affymetrix 6.0 microarrays 20967226 DLG1 chr3 196770636 196770786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG1 chr3 196776867 196792278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196776867 196792278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196807505 196961708 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196807505 196961708 Copy number loss Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196820349 196820449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG1 chr3 196822215 196942300 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DLG1 chr3 196822215 196942300 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 DLG1 chr3 196822913 196933362 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG1 chr3 196824806 196953971 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196824806 196962204 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196825112 197208742 Deletion Intellectual disability Array CGH 22102821 DLG1,DLG1-AS1,MIR4797 chr3 196826549 196872080 Duplication Schizophrenia NimbleGen HD2 platform 21346763 DLG1 chr3 196827229 196827570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG1 chr3 196827501 196874500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLG1 chr3 196829419 196963108 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196829419 196963108 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196830270 196958526 Gain Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 DLG1 chr3 196830600 196984917 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196830600 196995257 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196832836 196963459 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196832836 196965303 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196832836 196984917 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196834911 196962706 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196835861 196961708 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196835861 196962204 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196835861 196962204 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196835861 196963108 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196835861 196963108 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196836429 196961708 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196836429 196962706 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196836429 196962706 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196836429 196963108 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196836429 196963108 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196848506 196925768 Copy number Lung cancer paired-end sequencing 18438408 DLG1 chr3 196854985 196962204 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196854985 196962204 Copy number gain Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196868311 196928241 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196868311 196932581 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196868311 196941707 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196868311 196960422 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DLG1 chr3 196868311 196960422 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196868311 196987593 Deletion Normal Affymetrix 6.0 microarrays 20967226 DLG1 chr3 196868311 196987741 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 DLG1 chr3 196868323 196895127 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DLG1 chr3 196868323 196961660 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DLG1 chr3 196868323 196961756 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DLG1 chr3 196868577 197042673 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG1,DLG1-AS1,MIR4797 chr3 196868577 197078010 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG1,DLG1-AS1,MIR4797 chr3 196868577 197108192 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG1,DLG1-AS1,MIR4797 chr3 196868577 197108192 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG1,DLG1-AS1,MIR4797 chr3 196868577 197162583 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG1,DLG1-AS1,MIR4797 chr3 196868577 197252013 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BDH1,DLG1,DLG1-AS1,MIR4797 chr3 196868577 197317736 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BDH1,DLG1,DLG1-AS1,MIR4797 chr3 196868577 197317736 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BDH1,DLG1,DLG1-AS1,MIR4797 chr3 196868577 197559903 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BDH1,DLG1,DLG1-AS1,FYTTD1,KIAA0226,LOC220729,LRCH3,MIR4797,MIR922 chr3 19687210 19687279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 196872376 197212912 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 DLG1,DLG1-AS1,MIR4797 chr3 196874030 196902099 Gain and loss Pancreatic cancer SNP array 17952125 DLG1 chr3 196874647 196895854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196874647 196895854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196877260 196963108 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196883891 196963459 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196893795 196963108 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196893795 196963459 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DLG1 chr3 196895127 196901834 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DLG1 chr3 196900191 196900773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196901822 196928241 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196901822 196965419 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196901834 196907469 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DLG1 chr3 196904149 196958667 Deletion Mental retardation Not tested 20877625 DLG1 chr3 196905767 196942158 Duplication Rett syndrome References 21593744 DLG1 chr3 196906795 196906893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG1 chr3 196907457 196941167 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196907457 196950525 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196907469 196932593 Gain or loss Normal Birdsuite, version 1.5.2 22087296 DLG1 chr3 196908291 196967415 Loss or gain Normal 244K array 17666407 DLG1 chr3 196908420 197108192 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG1,DLG1-AS1,MIR4797 chr3 196911264 196911345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DLG1 chr3 196911452 196911548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196912000 196924416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196912000 196924416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196914776 196932581 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196914776 196941167 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196914881 196961756 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 DLG1 chr3 196919282 196960422 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196920033 197108192 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DLG1,DLG1-AS1,MIR4797 chr3 196923661 196924006 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DLG1 chr3 196928226 196960422 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196932256 196960422 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196932593 196941627 Gain Normal Birdsuite, version 1.5.2 22087296 DLG1 chr3 196933424 196950210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196933424 196950210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG1 chr3 196937433 196950007 Gain and loss Pancreatic cancer SNP array 17952125 DLG1 chr3 196940633 196964364 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 DLG1 chr3 196941627 196946367 Gain Normal Birdsuite, version 1.5.2 22087296 DLG1 chr3 196942232 196942232 Copy number Prostate cancer Illumina GA II sequencer 21307934 DLG1 chr3 196942261 196954940 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DLG1 chr3 196942560 196960422 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 DLG1 chr3 196942863 196954940 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 DLG1 chr3 196945141 198323301 Copy number Lung cancer paired-end sequencing 18438408 ANKRD18DP,BDH1,DLG1,DLG1-AS1,FAM157A,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR4797,MIR922,RPL35A chr3 196946367 196950537 Gain Normal Birdsuite, version 1.5.2 22087296 DLG1 chr3 196958877 196963755 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 DLG1 chr3 196959265 196963755 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 DLG1 chr3 196959307 197023545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLG1,MIR4797 chr3 196959307 197023545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLG1,MIR4797 chr3 196962501 196990500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLG1 chr3 196963224 197027458 Gain and loss Pancreatic cancer SNP array 17952125 DLG1,DLG1-AS1,MIR4797 chr3 196964365 197137370 Gain Normal Birdsuite, version 1.5.2 22087296 DLG1,DLG1-AS1,MIR4797 chr3 196965669 196968445 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 DLG1 chr3 196965964 196966064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DLG1 chr3 196980441 196980460 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 DLG1 chr3 196982676 197010849 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLG1 chr3 196989965 197004930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLG1 chr3 196990501 196995000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLG1 chr3 196990567 196990567 Copy number Prostate cancer Illumina GA II sequencer 21307934 DLG1 chr3 196991381 196999829 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DLG1 chr3 196993682 196993682 Copy number Prostate cancer Illumina GA II sequencer 21307934 DLG1 chr3 196995001 197001000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLG1 chr3 197001001 197074500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLG1,DLG1-AS1,MIR4797 chr3 197009930 197317736 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BDH1,DLG1,DLG1-AS1,MIR4797 chr3 197049176 197049361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 197049179 197049302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 197053614 197054329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 197059401 199326099 Amplification Breast cancer FISH 17142309 ANKRD18DP,BDH1,FAM157A,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR922,RPL35A chr3 197074501 197126500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 197074633 197120277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197074633 197120277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197078546 197124265 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197094185 197317736 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 BDH1 chr3 197102675 197135482 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr3 197126595 197128445 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197131635 197237167 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 BDH1 chr3 197136024 197136310 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197137911 197138225 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 197138788 197139760 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 197143776 197143956 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197143789 197143951 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197144091 197144171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 197151001 197152500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 197152501 197210500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 197152511 197213414 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197153032 197212228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 197156626 198982266 Deletion or duplication Normal - 21701786 ANKRD18DP,BDH1,FAM157A,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR922,RPL35A chr3 197171055 197173943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197174603 197201530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197174603 197201530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197174938 197200982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197184123 197184381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197185548 198838373 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 ANKRD18DP,BDH1,FAM157A,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR922,RPL35A chr3 197210501 197212000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 197212001 197396000 Copy number Normal ReadDepth: A Parallel R Package 21305028 BDH1,LOC220729 chr3 197212912 197893984 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD18DP,BDH1,FAM157A,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR922,RPL35A chr3 197216353 198770000 Deletion prenatal diagnosis arrayCGH 22389664 ANKRD18DP,BDH1,FAM157A,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR922,RPL35A chr3 197228667 198805413 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 ANKRD18DP,BDH1,FAM157A,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR922,RPL35A chr3 197236654 197300194 Amplification Melanoma MLPA assay 21693616 BDH1 chr3 197249056 197249124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BDH1 chr3 197255096 197260612 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 BDH1 chr3 197258310 197259372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BDH1 chr3 197260551 197293429 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 BDH1 chr3 197260553 197293358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BDH1 chr3 197264466 197297256 Gain and loss Pancreatic cancer SNP array 17952125 BDH1 chr3 197287999 197288061 Gain and loss Pancreatic cancer SNP array 17952125 BDH1 chr3 197290525 198287189 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-417K arrays 21546498 ANKRD18DP,BDH1,FAM157A,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR922,RPL35A chr3 197308161 197308161 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 197315515 197854075 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ANKRD18DP,FYTTD1,IQCG,KIAA0226,LMLN,LOC220729,LRCH3,MIR922,RPL35A chr3 197318357 197318411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 197321818 197321912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 197396001 197429500 Copy number Normal ReadDepth: A Parallel R Package 21305028 KIAA0226,MIR922 chr3 197404355 197429137 Gain Normal 244K array 17666407 KIAA0226 chr3 197408721 197422697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0226 chr3 197408721 197422697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0226 chr3 197412634 197426610 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0226 chr3 197413617 197413714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0226 chr3 197413617 197413721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0226 chr3 197417530 197417627 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0226 chr3 197427779 197444696 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 KIAA0226 chr3 197427780 197444696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0226 chr3 197427780 197444696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0226 chr3 197431693 197448609 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0226 chr3 197433642 197435701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA0226 chr3 197449652 197498981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FYTTD1,KIAA0226 chr3 197449652 197498981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FYTTD1,KIAA0226 chr3 197453565 197502894 Gain and loss Pancreatic cancer SNP array 17952125 FYTTD1,KIAA0226 chr3 197459127 197459227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0226 chr3 197479619 197479719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FYTTD1 chr3 197480 223778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 197502496 197529542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FYTTD1,LRCH3 chr3 197502496 197529542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FYTTD1,LRCH3 chr3 197506409 197553554 Gain and loss Pancreatic cancer SNP array 17952125 FYTTD1,LRCH3 chr3 197522377 197567419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRCH3 chr3 197534818 197549655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRCH3 chr3 197534818 197549655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRCH3 chr3 197540316 197541243 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRCH3 chr3 197552877 197552983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRCH3 chr3 197556792 197556896 Gain and loss Pancreatic cancer SNP array 17952125 LRCH3 chr3 197564768 197643742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQCG,LRCH3 chr3 197564768 197643742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQCG,LRCH3 chr3 197568681 197647583 Gain and loss Pancreatic cancer SNP array 17952125 IQCG,LRCH3 chr3 197604976 197605080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197607129 197642171 Loss Normal 244K array 17666407 IQCG chr3 197608783 197609046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197608891 197608993 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197611179 197611474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197611190 197611474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197612696 197612959 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197615103 197615387 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197640937 197641031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IQCG chr3 197646545 197648552 Gain and loss Pancreatic cancer SNP array 17952125 IQCG chr3 197683026 197714979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQCG,LMLN chr3 197683026 197714979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQCG,LMLN chr3 197686939 197718892 Gain and loss Pancreatic cancer SNP array 17952125 LMLN chr3 197698952 199291952 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 ANKRD18DP,FAM157A,LMLN chr3 197718147 197726634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMLN chr3 197722061 197730547 Gain and loss Pancreatic cancer SNP array 17952125 LMLN chr3 197765475 197779810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMLN chr3 197765475 197779810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMLN chr3 197769374 197783723 Gain and loss Pancreatic cancer SNP array 17952125 LMLN chr3 197780121 197800327 Gain or loss Breast cancer - 20668451 ANKRD18DP chr3 197780121 197800327 Gain or loss Cancer - 20668451 ANKRD18DP chr3 197780121 197800327 Gain or loss Lung cancer - 20668451 ANKRD18DP chr3 197780121 197800327 Gain or loss Ovarian cancer - 20668451 ANKRD18DP chr3 197780121 197800327 Gain or loss Pancreas cancer - 20668451 ANKRD18DP chr3 197780121 197800327 Gain or loss Prostate cancer - 20668451 ANKRD18DP chr3 197780122 197800325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANKRD18DP chr3 197784280 197802466 Gain and loss Pancreatic cancer SNP array 17952125 ANKRD18DP chr3 1978504 2151165 Gain Autism qPCR, Illumina1M 20531469 CNTN4 chr3 197851046 197873269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197851046 197873269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197854959 197877177 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197874499 197874551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 197917545 197923531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197917545 197923531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197920127 197920232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197922231 197927404 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197923643 197947252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197923643 197947252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197924040 197924139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197924041 197924145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197927595 197950074 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197946384 198663258 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 197951312 198043749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197951312 198043749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197955225 198047662 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197958460 197958592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 197962365 197962505 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197962437 197962505 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 197990693 198633218 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 197996248 197996354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198000161 198000267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 198019180 198042542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 198025338 198029405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 198079123 198145981 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 198079123 198145981 Gain or loss Cancer - 20668451 NOT_FOUND chr3 198079123 198145981 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 198079123 198145981 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 198079123 198145981 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 198079123 198145981 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 198079124 198145977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198079124 198145977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198083087 198146409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 198146670 198153861 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 NOT_FOUND chr3 198146670 198153861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198146670 198153861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198147903 198148264 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 198150589 198157710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 198157610 198180101 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 198157612 198180101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198157612 198180101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198157855 198159194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 198161525 198184014 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 198177764 199199372 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr3 198185661 198216036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 198199501 198248000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 198201857 198202706 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 198214640 198241083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198214640 198241083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198218466 198244952 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 198253828 198509844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198253828 198509844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198259733 198513757 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 198269534 198270534 Gain Chordoma References 21215367 NOT_FOUND chr3 198287059 1993214468 Gain Urothelial carcinoma array CGH validated by FISH 21177765 NOT_FOUND chr3 198343363 198532077 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 198343363 198532077 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 198343363 198986178 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 198418811 198422778 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 198418971 198423646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 198419001 198423500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 198421463 198457875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 198447471 199501827 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 198458261 199501827 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr3 19848170 198882656 Copy number Autism exome sequencing 22495311 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARMC8,ARPP21,ASB14,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf22,C3orf27,C3orf30,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK2N2,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHRD,CHST13,CHST2,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EFHB,EGFEM1P,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRK7,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RD,IL1RAP,IL20RB,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LIMD1,LIMD1-AS1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100287879,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRTM1,LSAMP,LSAMP-AS3,LSG1,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3919,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR922,MIR944,MIRLET7G,MITF,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MST1,MST1R,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXSM,OXSR1,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD54L2,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SFMBT1,SGOL1,SGOL1-AS1,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A20,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUSD5,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM42,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRPC1,TSC22D2,TTC14,TTC21A,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 198497639 199501827 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 19850955 198337914 Copy number Lung cancer paired-end sequencing 18438408 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARMC8,ARPP21,ASB14,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf22,C3orf27,C3orf30,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK2N2,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHRD,CHST13,CHST2,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EFHB,EGFEM1P,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRK7,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RD,IL1RAP,IL20RB,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LIMD1,LIMD1-AS1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100287879,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRTM1,LSAMP,LSAMP-AS3,LSG1,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3919,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR922,MIR944,MIRLET7G,MITF,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MST1,MST1R,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXSM,OXSR1,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD54L2,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SFMBT1,SGOL1,SGOL1-AS1,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A20,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUSD5,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM42,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRPC1,TSC22D2,TTC14,TTC21A,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 198653674 198686276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 198664129 198823591 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 198664129 198986178 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 198665701 198678851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 198669318 198678058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 198671398 198687279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 198707001 198738000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 198721051 198784591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198721051 198784591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198772060 198823587 Deletion Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 NOT_FOUND chr3 198772060 198823587 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 198772060 198986178 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 198772060 198986178 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 198774555 198799207 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 198788676 198799207 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 198791830 198810820 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 198792686 198798533 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 198797026 199501827 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 198862194 198875568 Loss or gain Normal 244K array 17666407 NOT_FOUND chr3 198870121 198870300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 198882656 198948170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198882656 198948170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198885764 198885844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 19895968 19963505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFHB chr3 19895968 19963505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFHB chr3 19895972 19950710 Gain and loss Pancreatic cancer SNP array 17952125 EFHB chr3 198961018 198995581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 198961018 198995581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199002542 199082851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199002542 199082851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199035573 199036079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 199100346 199171271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199100346 199171271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199105775 199105881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199161449 199167116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199171468 199254988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199171468 199254988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199199607 199383508 Loss or gain Normal 244K array 17666407 NOT_FOUND chr3 199205875 199205977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 19921061 20096832 Loss Autism Agilent 1M (SNParray indicated mosaicism) 20531469 EFHB,KAT2B,PP2D1,RAB5A chr3 199257001 199259000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 199260725 199450740 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 199268805 199291939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199268805 199291939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199273329 199320282 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 199282579 199282685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199305670 199322975 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 199310134 199311731 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 199311929 199331934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 199315590 199328919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 199315732 199318952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 199316857 199324211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 199317833 199318738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 199328324 199334563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 199329601 199380402 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 199329613 199334102 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 199330983 199332046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199331165 199331269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 199363633 199392125 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr3 199408014 199408117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 19956765 19959806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFHB chr3 19963749 20001647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EFHB,RAB5A chr3 19963749 20001647 Gain and loss Pancreatic cancer SNP array 17952125 EFHB,RAB5A chr3 19963749 20001647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EFHB,RAB5A chr3 19963762 20001647 Gain or loss Breast cancer - 20668451 EFHB,RAB5A chr3 19963762 20001647 Gain or loss Cancer - 20668451 EFHB,RAB5A chr3 19963762 20001647 Gain or loss Lung cancer - 20668451 EFHB,RAB5A chr3 19963762 20001647 Gain or loss Ovarian cancer - 20668451 EFHB,RAB5A chr3 19963762 20001647 Gain or loss Pancreas cancer - 20668451 EFHB,RAB5A chr3 19963762 20001647 Gain or loss Prostate cancer - 20668451 EFHB,RAB5A chr3 19963762 20001647 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 EFHB,RAB5A chr3 19975051 19975195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EFHB chr3 19983081 198523974 Copy number Lung cancer paired-end sequencing 18438408 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARMC8,ARPP21,ASB14,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf22,C3orf27,C3orf30,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK2N2,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHRD,CHST13,CHST2,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRK7,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RD,IL1RAP,IL20RB,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LIMD1,LIMD1-AS1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100287879,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRTM1,LSAMP,LSAMP-AS3,LSG1,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3919,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR922,MIR944,MIRLET7G,MITF,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MST1,MST1R,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXSM,OXSR1,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD54L2,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SFMBT1,SGOL1,SGOL1-AS1,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A20,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUSD5,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM42,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRPC1,TSC22D2,TTC14,TTC21A,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 19986449 19986548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 19996458 20028746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PP2D1,RAB5A chr3 19996458 20028746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PP2D1,RAB5A chr3 20013299 20013421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAB5A chr3 20013299 20013437 Gain and loss Pancreatic cancer SNP array 17952125 RAB5A chr3 20017471 20028753 Gain and loss Pancreatic cancer SNP array 17952125 PP2D1,RAB5A chr3 2003578 2004063 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 200517 214718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20056527 20170900 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 KAT2B chr3 20056528 20170887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAT2B chr3 20056528 20170887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT2B chr3 20056528 20170898 Gain and loss Pancreatic cancer SNP array 17952125 KAT2B chr3 20065779 20065879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 20085341 20086341 Gain Chordoma References 21215367 KAT2B chr3 20108247 20125206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KAT2B chr3 201232 216827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20170054 21932561 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KAT2B,SGOL1,SGOL1-AS1,VENTXP7,ZNF385D chr3 20177088 20202687 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 KAT2B,SGOL1 chr3 20177091 20202687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KAT2B,SGOL1 chr3 20177091 20202687 Gain and loss Pancreatic cancer SNP array 17952125 KAT2B,SGOL1 chr3 20177091 20202687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KAT2B,SGOL1 chr3 20205874 20219511 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 SGOL1,SGOL1-AS1 chr3 20209280 20209370 Gain and loss Pancreatic cancer SNP array 17952125 SGOL1 chr3 20209281 20209370 Gain and loss Pancreatic cancer SNP array 17952125 SGOL1 chr3 20219218 22885441 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SGOL1,SGOL1-AS1,VENTXP7,ZNF385D chr3 20240591 20515632 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 20269617 20300327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20285461 20285566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 20285461 20285566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 20285462 20285566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 20286431 20292745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 20296092 20328911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20302650 20315766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20306018 20328883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20310916 20882646 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 20315978 20340792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20349327 20351984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 20351254 20515632 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 20351254 20515632 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 20364761 20467460 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 203700 209335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 20382715 20427885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 2039784 197391142 Duplication Intellectual disability Array CGH 22102821 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 20403223 20404223 Loss Chordoma References 21215367 NOT_FOUND chr3 20417101 22820600 Copy number Normal ReadDepth: A Parallel R Package 21305028 VENTXP7,ZNF385D chr3 20441519 20452176 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 204643 209381 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr3 204643 209381 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 20467796 20467862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 205022 207800 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 205022 207800 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 20517002 20517102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 20522478 20567757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20524140 20524237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 20524140 20524252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 20531650 20531750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 20628875 20629263 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 20642283 21645524 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 VENTXP7,ZNF385D chr3 20721814 20733850 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 20723900 20731354 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 2072813 2743794 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 CNTN4,CNTN4-AS2 chr3 20794722 20794812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 20796848 20796948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 20844320 20844420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 20894496 20894770 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 20894925 55444658 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACAA1,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ARPP21,ATRIP,AZI2,BAP1,BSN,BSN-AS2,C3orf18,C3orf35,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL7A1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DOCK3,DUSP7,DYNC1LI1,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,ESRG,EXOG,EXOSC7,FAM198A,FAM212A,FBXL2,FBXW12,FLJ33065,FLJ39534,FYCO1,GADL1,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRM2,GTDC2,HEMK1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC152024,LOC285326,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR425,MIR4271,MIR4442,MIR4443,MIR4787,MIR4792,MIR4793,MIR5193,MIR548AC,MIR564,MIR711,MIRLET7G,MLH1,MOBP,MON1A,MST1,MST1R,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NRADDP,NT5DC2,OSBPL10,OSBPL10-AS1,OXSM,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PFKFB4,PHF7,PLCD1,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RHOA,RNF123,RPL14,RPL15,RPL29,RPSA,RRP9,RTP3,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A20,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPCS1,SPINK8,SS18L2,STAB1,STAC,STT3B,SUSD5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TTC21A,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,XCR1,XIRP1,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 20920217 20920315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 20920301 20920416 Loss Normal 244K array 17666407 NOT_FOUND chr3 20946175 20946351 Loss Normal 244K array 17666407 NOT_FOUND chr3 20949623 21095913 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 20963438 20971181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 2105575 2105895 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 2105624 2105895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 2105661 2105895 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 21099889 21099989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 21109990 21110061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 21110003 21154577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 21122867 21122967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 21139063 21139156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 21147924 21148019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 21154759 21154837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 2115549 3074645 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 CNTN4,CNTN4-AS2 chr3 21181513 21181597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 21181542 21181642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2121785 2125250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 2121785 2125250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 21229895 21323642 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 21229895 21323642 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 21233259 21310830 Gain Normal 244K array 17666407 NOT_FOUND chr3 21234010 21318600 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 21290 1031307 Substitutions and indels small cell lung cancer array-CGH 20016488 CHL1 chr3 213501 215000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 213649 426097 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CHL1 chr3 213650 426098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHL1 chr3 213650 426098 Gain and loss Pancreatic cancer SNP array 17952125 CHL1 chr3 213650 426098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHL1 chr3 21422524 21422640 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 21425660 21433244 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr3 21432502 21432824 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 21437673 21767820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VENTXP7,ZNF385D chr3 21437673 21767820 Gain and loss Pancreatic cancer SNP array 17952125 VENTXP7,ZNF385D chr3 21437673 21767820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VENTXP7,ZNF385D chr3 21470548 21470648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385D chr3 21632140 21632240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF385D chr3 21698710 21700878 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ZNF385D chr3 21698730 21700965 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ZNF385D chr3 21731513 21732775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF385D chr3 21779149 21789395 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF385D chr3 21800989 21801089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2181272 2470417 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CNTN4,CNTN4-AS2 chr3 21818527 21818677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 21846234 21846333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 21846756 21850669 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 21942154 21975950 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 NOT_FOUND chr3 2197550 2197650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 22052854 22073701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 22052897 22231873 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 22065401 22074900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 22065888 22077700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 22065957 22080056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 22066027 22108203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 22067352 22072799 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 22081203 22081283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 22215863 22347752 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 22245383 22263327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 22254325 22261409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 22254333 22261417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 22255614 22261196 Loss Normal 244K array 17666407 NOT_FOUND chr3 22266935 22267035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 22398294 22572731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 22398314 22572730 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr3 22398314 22572730 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 22470827 22470927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 224727 3561727 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,TRNT1 chr3 22499957 22500057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 22501180 22529529 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 22517734 22562429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 22536387 22586568 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 22540900 22541550 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr3 22549173 24397755 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC152024,MIR548AC,NKIRAS1,NR1D2,RPL15,THRB,UBE2E1,UBE2E2 chr3 2255513 3074645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN4 chr3 2255513 3074645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN4 chr3 22630163 24666717 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC152024,LOC644990,MIR4792,MIR548AC,NKIRAS1,NR1D2,RPL15,THRB,UBE2E1,UBE2E2 chr3 22660996 22661096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 22670493 22670558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2275438 2275529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 22820601 23807300 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR548AC,UBE2E2 chr3 22849568 22849668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 22862541 22862744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 2286587 2286934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN4 chr3 22886475 22886679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 22886675 22886888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 22933053 22933153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2295436 2295889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN4 chr3 23006318 23008077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 23023658 23023758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 23125022 23911357 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-384K arrays 21546498 MIR548AC,UBE2E1,UBE2E2 chr3 23143279 23143379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 231485 397141 Gain Prostate cancer Array CGH 18632612 CHL1 chr3 23150869 23151301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 23189765 23223594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 23208527 23209166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 23219787 23607300 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 MIR548AC,UBE2E2 chr3 23219788 23608288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548AC,UBE2E2 chr3 23219788 23608288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AC,UBE2E2 chr3 23225195 23606326 Gain and loss Pancreatic cancer SNP array 17952125 MIR548AC,UBE2E2 chr3 23236338 23328861 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 UBE2E2 chr3 232597 232697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 23290302 23290403 Gain and loss Pancreatic cancer SNP array 17952125 UBE2E2 chr3 23290302 23290405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2E2 chr3 23311663 23311751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2E2 chr3 23329177 23329277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2E2 chr3 23334822 23334922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2E2 chr3 23415995 23416064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AC,UBE2E2 chr3 23418085 23418160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AC,UBE2E2 chr3 23489009 23493669 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548AC,UBE2E2 chr3 23491569 23491669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AC,UBE2E2 chr3 2350729 2350829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 23586020 23586120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AC,UBE2E2 chr3 23630159 23630258 Gain and loss Pancreatic cancer SNP array 17952125 MIR548AC,UBE2E2 chr3 23630159 23630258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AC,UBE2E2 chr3 23657984 23658087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 23657986 23658087 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 23660760 23661205 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 23739062 23739391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 23755327 23755399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 23765336 23765420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 23792509 23792577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 23800000 26400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 LOC152024,LOC285326,LOC644990,MIR4442,MIR4792,NGLY1,NKIRAS1,NR1D2,OXSM,RARB,RPL15,THRB,TOP2B,UBE2E1 chr3 238083 238162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 23822443 23907792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBE2E1 chr3 23822443 23907792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2E1 chr3 23822443 23907803 Gain and loss Pancreatic cancer SNP array 17952125 UBE2E1 chr3 23872050 23872150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2E1 chr3 23902766 23902851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBE2E1 chr3 23908575 23963057 Gain or loss Breast cancer - 20668451 NKIRAS1,RPL15,UBE2E1 chr3 23908575 23963057 Gain or loss Cancer - 20668451 NKIRAS1,RPL15,UBE2E1 chr3 23908575 23963057 Gain or loss Lung cancer - 20668451 NKIRAS1,RPL15,UBE2E1 chr3 23908575 23963057 Gain or loss Ovarian cancer - 20668451 NKIRAS1,RPL15,UBE2E1 chr3 23908575 23963057 Gain or loss Pancreas cancer - 20668451 NKIRAS1,RPL15,UBE2E1 chr3 23908575 23963057 Gain or loss Prostate cancer - 20668451 NKIRAS1,RPL15,UBE2E1 chr3 23908578 23933541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UBE2E1 chr3 23908578 23933541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UBE2E1 chr3 23909590 23927399 Gain and loss Pancreatic cancer SNP array 17952125 UBE2E1 chr3 23933628 23936046 Gain and loss Pancreatic cancer SNP array 17952125 NKIRAS1 chr3 23933643 23937334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NKIRAS1 chr3 23933643 23937334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NKIRAS1 chr3 23938864 24184494 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 LOC152024,NKIRAS1,NR1D2,RPL15,THRB chr3 23961810 23996240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR1D2,RPL15 chr3 23961810 23996240 Gain and loss Pancreatic cancer SNP array 17952125 NR1D2,RPL15 chr3 23961810 23996240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR1D2,RPL15 chr3 24009701 24414500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC152024,NR1D2,THRB chr3 2401908 2402985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN4 chr3 240888901 199501827 Deletion Glioma mate-paired sequence 20126413 chr3 24113109 24113855 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 24134709 24511317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC152024,THRB chr3 24134709 24511317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC152024,THRB chr3 24138703 24511317 Gain and loss Pancreatic cancer SNP array 17952125 LOC152024,THRB chr3 24185460 24185560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THRB chr3 24191581 24236753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 THRB chr3 24221950 24222050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THRB chr3 24264400 24264991 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 THRB chr3 24320284 24333149 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 THRB chr3 24348531 24348772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THRB chr3 24348799 24348999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THRB chr3 2440837 2440977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 24414501 28032400 Copy number Normal ReadDepth: A Parallel R Package 21305028 EOMES,LOC285326,LOC644990,LRRC3B,MIR4442,MIR4792,NEK10,NGLY1,OXSM,RARB,SLC4A7,THRB,TOP2B chr3 24449798 24449948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THRB chr3 24477849 24477949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THRB chr3 24482569 24482669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 THRB chr3 2449385 2449485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 24540081 24540181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC644990 chr3 24627517 24917930 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 24645120 24645220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2469001 2473200 Deletion Glioma mate-paired sequence 20126413 CNTN4 chr3 24755543 24756036 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 24794515 24794839 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 24836572 24881870 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 24862202 24862299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 24893194 26005235 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC285326,MIR4442,NGLY1,OXSM,RARB,TOP2B chr3 24893194 27307824 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC285326,LRRC3B,MIR4442,NEK10,NGLY1,OXSM,RARB,TOP2B chr3 24930353 25810353 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 MIR4442,NGLY1,RARB,TOP2B chr3 24933710 24933805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2493734 2493810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 24973438 24973538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 24994878 24994978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 25005839 25007210 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 25005892 25007246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 25036661 25036942 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 25036661 25036942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 25041502 25041588 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 25041502 25041621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 25041502 25041621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 25063517 25063612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 25089686 25089786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 250899 250999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHL1 chr3 25182524 25182624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 25190893 25614424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RARB chr3 25190893 25614424 Gain and loss Pancreatic cancer SNP array 17952125 RARB chr3 25190893 25614424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RARB chr3 25211766 25252924 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 25215757 25215857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 252802 199053957 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,ALS2CL,AMIGO3,AMOTL2,AMT,ANAPC13,ANKRD18DP,ANKRD28,ANKUB1,ANO10,AP2M1,APEH,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL14,ARL6,ARL6IP5,ARL8B,ARMC8,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ASTE1,ATG3,ATG7,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2B2,ATP2C1,ATP6V1A,ATR,ATRIP,ATXN7,AZI2,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BHLHE40,BOC,BPESC1,BRK1,BRPF1,BSN,BSN-AS2,BTD,BTLA,C3orf14,C3orf17,C3orf18,C3orf20,C3orf22,C3orf24,C3orf27,C3orf30,C3orf32,C3orf33,C3orf35,C3orf36,C3orf37,C3orf38,C3orf43,C3orf45,C3orf49,C3orf52,C3orf55,C3orf58,C3orf62,C3orf65,C3orf67,C3orf70,C3orf71,C3orf72,C3orf74,C3orf77,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMK2N2,CAMKV,CAMP,CAND2,CAPN7,CASR,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC174,CCDC36,CCDC37,CCDC39,CCDC48,CCDC50,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCNL1,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL1,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CDV3,CELSR3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD4,CHCHD6,CHDH,CHL1,CHMP2B,CHRD,CHST13,CHST2,CIDEC,CIDECP,CISH,CLASP2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLEC3B,CLRN1,CLRN1-AS1,CLSTN2,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNBP,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COLQ,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CRYGS,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DBR1,DCBLD2,DCLK3,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX30,DHX36,DIRC2,DLEC1,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DOCK3,DPH3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DVL3,DYNC1LI1,DZIP1L,DZIP3,EAF1,EAF2,EBLN2,ECE2,ECT2,EDEM1,EEFSEC,EFCAB12,EFHB,EGFEM1P,EGOT,EHHADH,EHHADH-AS1,EIF1B,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPHB1,EPHB3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,EXOG,EXOSC7,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FANCD2,FBLN2,FBXL2,FBXO40,FBXO45,FBXW12,FETUB,FEZF2,FGD5,FGD5-AS1,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ34208,FLJ39534,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYCO1,FYTTD1,GABRR3,GADL1,GALNTL2,GAP43,GATA2,GBE1,GCSAM,GFM1,GHRL,GHRLOS,GHRLOS2,GHSR,GK5,GLB1,GLT8D1,GLYCTK,GMNC,GMPPB,GMPS,GNAI2,GNAT1,GNB4,GNL3,GOLGA4,GOLGB1,GOLIM4,GORASP1,GP5,GP9,GPD1L,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR62,GPR87,GPX1,GRAMD1C,GRIP2,GRK7,GRM2,GRM7,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HACL1,HCLS1,HDAC11,HEG1,HEMK1,HES1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HRH1,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RC,IL17RD,IL17RE,IL1RAP,IL20RB,IL5RA,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQCG,IQCJ,IQCJ-SCHIP1,IQSEC1,IRAK2,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KALRN,KAT2B,KBTBD12,KBTBD5,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNH8,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KRBOX1,KY,LAMB2,LAMB2P1,LAMP3,LARS2,LARS2-AS1,LEKR1,LEPREL1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00488,LINC00578,LINC00606,LINC00620,LINC00635,LINC00636,LIPH,LMCD1,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129480,LOC100129550,LOC100131551,LOC100131635,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100505696,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC100507582,LOC152024,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC339874,LOC339894,LOC344595,LOC344887,LOC401052,LOC401074,LOC401093,LOC401109,LOC440944,LOC440970,LOC644990,LOC645206,LOC646168,LOC646498,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC2,LRRC31,LRRC33,LRRC34,LRRC3B,LRRC58,LRRFIP2,LRRIQ4,LRRN1,LRTM1,LSAMP,LSAMP-AS3,LSG1,LSM3,LTF,LUST,LXN,LYZL4,LZTFL1,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MANF,MAP3K13,MAP4,MAP6D1,MAPKAPK3,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,METTL6,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1226,MIR1248,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR15B,MIR16-2,MIR191,MIR198,MIR26A1,MIR3136,MIR3714,MIR3919,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4788,MIR4789,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR563,MIR564,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR711,MIR885,MIR922,MIR944,MIRLET7G,MITF,MKRN2,MLF1,MLH1,MME,MOBP,MON1A,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MRPS25,MSL2,MST1,MST1R,MTMR14,MUC13,MUC20,MUC4,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYNN,MYRIP,NAA50,NAALADL2,NAALADL2-AS3,NAT6,NBEAL2,NCBP2,NCEH1,NCK1,NCKIPSD,NDUFAF3,NDUFB4,NDUFB5,NEK10,NEK11,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NLGN1,NMD3,NME6,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NPRL2,NR1D2,NR1I2,NR2C2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210,NUP210P1,NXPE3,OGG1,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OSBPL11,OSTN,OTOL1,OXNAD1,OXSM,OXSR1,OXTR,P2RY1,P2RY12,P2RY13,P2RY14,P4HTM,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFKFB4,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCD1,PLCH1,PLCL2,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PP2D1,PPARG,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD2,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QARS,QRICH1,QTRTD1,RAB43,RAB5A,RAB6B,RAB7A,RABL3,RAD18,RAD54L2,RAF1,RAP2B,RARB,RARRES1,RASA2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RBP1,RBP2,RETNLB,RFC4,RFT1,RFTN1,RHO,RHOA,RNF123,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL15,RPL22L1,RPL24,RPL29,RPL32,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RPSA,RPUSD3,RRP9,RSRC1,RTP1,RTP2,RTP3,RTP4,RUVBL1,RYBP,RYK,SACM1L,SAMD7,SATB1,SCAP,SCARNA7,SCHIP1,SCN10A,SCN11A,SCN5A,SDHAP1,SDHAP2,SEC13,SEC22A,SEC22C,SEC61A1,SEC62,SELK,SELT,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A36,SLC25A38,SLC26A6,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC38A3,SLC41A3,SLC4A7,SLC51A,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMARCC1,SMC4,SNAR-I,SNORA4,SNORA58,SNORA6,SNORA62,SNORA63,SNORA7A,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPINK8,SPSB4,SPTSSB,SRGAP3,SRPRB,SS18L2,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAC,STAG1,STT3B,STX19,STXBP5L,SUCLG2,SUCNR1,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAGLN3,TAMM41,TATDN2,TBC1D23,TBC1D5,TBCCD1,TBL1XR1,TCAIM,TCTA,TCTEX1D2,TDGF1,TERC,TEX264,TF,TFDP2,TFG,TFRC,TGFBR2,TGM4,THOC7,THPO,THRB,THUMPD3,TIGIT,TIMMDC1,TIMP4,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMA7,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM14E,TMEM158,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM40,TMEM41A,TMEM42,TMEM43,TMEM44,TMEM44-AS1,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOP2B,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TPRXL,TRA2B,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM42,TRIM59,TRIM71,TRMT10C,TRNT1,TRPC1,TSC22D2,TSEN2,TTC14,TTC21A,TTLL3,TUSC2,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBA7,UBE2E1,UBE2E2,UBP1,UBXN7,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP13,USP19,USP4,UTS2D,VENTXP7,VEPH1,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,VPS8,VWA5B2,WDR48,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR6,WDR82,WNT5A,WNT7A,WWTR1,WWTR1-AS1,XCR1,XIRP1,XPC,XRN1,XXYLT1,XYLB,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZBTB47,ZCWPW2,ZDHHC19,ZDHHC23,ZDHHC3,ZFYVE20,ZIC1,ZIC4,ZMAT3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF639,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1,ZXDC chr3 253373 253577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHL1 chr3 25340663 25341157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 25340675 25341157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 25347141 25347204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 25368779 25368887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 25368779 25368887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 25368786 25368887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 2538341 2758715 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN4 chr3 25444121 25444442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 25444757 25614424 Gain or loss Breast cancer - 20668451 RARB chr3 25444757 25614424 Gain or loss Cancer - 20668451 RARB chr3 25444757 25614424 Gain or loss Lung cancer - 20668451 RARB chr3 25444757 25614424 Gain or loss Ovarian cancer - 20668451 RARB chr3 25444757 25614424 Gain or loss Pancreas cancer - 20668451 RARB chr3 25444757 25614424 Gain or loss Prostate cancer - 20668451 RARB chr3 25444837 25613111 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 RARB chr3 25457084 25457176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2548148 2548531 Duplication Autism quantitative PCR 19404257 CNTN4 chr3 25561260 25572344 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 RARB chr3 25563303 25608024 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RARB chr3 25580196 33101936 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-402K arrays 21546498 AZI2,CCR4,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,DYNC1LI1,EOMES,GADL1,GLB1,GPD1L,LOC285326,LOC645206,LRRC3B,MIR4442,NEK10,NGLY1,OSBPL10,OSBPL10-AS1,OXSM,RARB,RBMS3,SLC4A7,STT3B,TGFBR2,TOP2B,TRIM71,ZCWPW2,ZNF860 chr3 2559578 2559673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 25604548 25605069 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 RARB chr3 2560878 2560978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 25614478 25680835 Copy number Prostate cancer FISH 20601956 RARB,TOP2B chr3 25614479 25680792 Gain and loss Pancreatic cancer SNP array 17952125 RARB,TOP2B chr3 25614494 25680792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RARB,TOP2B chr3 25614494 25680792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RARB,TOP2B chr3 25634972 25678644 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 RARB,TOP2B chr3 2567979 2932425 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CNTN4 chr3 25689213 25689313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TOP2B chr3 25690001 25691500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TOP2B chr3 25706331 25798544 Indels Normal Affymetrix and Illumina arrays 20811451 MIR4442,NGLY1 chr3 25728894 25728994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 25734237 25734301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 25735766 25799926 Gain and loss Pancreatic cancer SNP array 17952125 NGLY1 chr3 25735808 25799997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NGLY1 chr3 25735808 25799997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NGLY1 chr3 25765983 25766391 Gain and loss Pancreatic cancer SNP array 17952125 NGLY1 chr3 25765983 25766391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NGLY1 chr3 25768481 25768581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NGLY1 chr3 25768838 25801683 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NGLY1 chr3 25771289 25772618 Gain and loss Pancreatic cancer SNP array 17952125 NGLY1 chr3 25771301 25772618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NGLY1 chr3 25806575 25811028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NGLY1 chr3 25806575 25811028 Gain and loss Pancreatic cancer SNP array 17952125 NGLY1 chr3 25806575 25811028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NGLY1 chr3 25835569 25835703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OXSM chr3 2588089 3074645 Gain and loss Pancreatic cancer SNP array 17952125 CNTN4 chr3 25955489 26060371 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 25976758 25991724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 26016521 26140710 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 2601916 2602916 Gain Chordoma References 21215367 CNTN4 chr3 26021150 26021250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 26032164 26032865 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 26040173 26194166 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 2605167 2936734 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CNTN4 chr3 2605167 2936734 Copy number gain Normal High-resolution SNP genotyping 21211785 CNTN4 chr3 2608027 2608347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN4 chr3 26083878 26128210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 26098854 26098981 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr3 2610083 2611083 Loss Chordoma References 21215367 CNTN4 chr3 26101818 26132432 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 26140966 26147112 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr3 26207867 26216117 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 26227976 26273026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 26248746 26248926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 26266439 36515144 Copy number gain Normal High-resolution SNP genotyping 21211785 ARPP21,AZI2,CCR4,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,DYNC1LI1,EOMES,FBXL2,GADL1,GLB1,GPD1L,LOC645206,LRRC3B,MIR128-2,NEK10,OSBPL10,OSBPL10-AS1,PDCD6IP,RBMS3,SLC4A7,STAC,STT3B,SUSD5,TGFBR2,TMPPE,TRIM71,UBP1,ZCWPW2,ZNF860 chr3 26266439 48801499 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ALS2CL,ANO10,ARPP21,ATRIP,AZI2,C3orf35,C3orf77,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC51,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CELSR3,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL7A1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DCLK3,DHX30,DLEC1,DYNC1LI1,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FBXL2,FBXW12,FLJ33065,FLJ39534,FYCO1,GADL1,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,IP6K2,ITGA9,KBTBD5,KIAA1143,KIF15,KIF9,KLHL18,KRBOX1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC645206,LRRC2,LRRC3B,LRRFIP2,LTF,LYZL4,LZTFL1,MAP4,MIR1226,MIR128-2,MIR138-1,MIR26A1,MIR4443,MIR4793,MIR564,MIR711,MLH1,MOBP,MYD88,MYL3,MYRIP,NBEAL2,NCKIPSD,NEK10,NKTR,NME6,NRADDP,OSBPL10,OSBPL10-AS1,OXSR1,PDCD6IP,PFKFB4,PLCD1,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,RBMS3,RPL14,RPSA,RTP3,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SETD2,SHISA5,SLC22A13,SLC22A14,SLC25A38,SLC26A6,SLC4A7,SLC6A20,SMARCC1,SNORA6,SNORA62,SNRK,SNRK-AS1,SPINK8,SS18L2,STAC,STT3B,SUSD5,TCAIM,TDGF1,TGFBR2,TGM4,TMA7,TMEM158,TMEM42,TMEM89,TMIE,TMPPE,TRAK1,TRANK1,TREX1,TRIM71,TTC21A,UBP1,UCN2,ULK4,UQCRC1,VILL,VIPR1,WDR48,XCR1,XIRP1,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 26371277 81284264 Deletion Acute myeloid leukemia - 21251322 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARPP21,ASB14,ATRIP,ATXN7,AZI2,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL7A1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,DYNC1LI1,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXL2,FBXW12,FEZF2,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRM2,GTDC2,GXYLT2,HEMK1,HESX1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LMOD3,LOC100132146,LOC100287879,LOC100506994,LOC201617,LOC285401,LOC401074,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4787,MIR4793,MIR5193,MIR548A2,MIR564,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MST1,MST1R,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NICN1,NISCH,NKTR,NME6,NPRL2,NRADDP,NT5DC2,OSBPL10,OSBPL10-AS1,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLXNB1,POC1A,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RHOA,RNF123,ROBO1,ROBO2,RPL14,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TTC21A,TUSC2,TWF2,UBA3,UBA7,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 26397614 28008237 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EOMES,LRRC3B,NEK10,SLC4A7 chr3 26398843 26423334 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 26400000 30800000 Amplification Medulloblastoma SNP arrays 21979893 AZI2,CMC1,EOMES,GADL1,LOC645206,LRRC3B,NEK10,RBMS3,SLC4A7,TGFBR2,ZCWPW2 chr3 26400000 30800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AZI2,CMC1,EOMES,GADL1,LOC645206,LRRC3B,NEK10,RBMS3,SLC4A7,TGFBR2,ZCWPW2 chr3 26400000 30800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AZI2,CMC1,EOMES,GADL1,LOC645206,LRRC3B,NEK10,RBMS3,SLC4A7,TGFBR2,ZCWPW2 chr3 26400000 30800000 Gain Medulloblastoma SNP arrays 21979893 AZI2,CMC1,EOMES,GADL1,LOC645206,LRRC3B,NEK10,RBMS3,SLC4A7,TGFBR2,ZCWPW2 chr3 26400000 30900000 Deletion Lung cancer CGH 16618734 AZI2,CMC1,EOMES,GADL1,LOC645206,LRRC3B,NEK10,RBMS3,SLC4A7,TGFBR2,ZCWPW2 chr3 26400000 36500000 Deletion Medulloblastoma SNP arrays 21979893 ARPP21,AZI2,CCR4,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,DYNC1LI1,EOMES,FBXL2,GADL1,GLB1,GPD1L,LOC645206,LRRC3B,MIR128-2,NEK10,OSBPL10,OSBPL10-AS1,PDCD6IP,RBMS3,SLC4A7,STAC,STT3B,SUSD5,TGFBR2,TMPPE,TRIM71,UBP1,ZCWPW2,ZNF860 chr3 26400146 26427766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 26404342 26420958 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 26409128 26414347 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 26411325 26411632 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 26414499 26420540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 26425966 26427261 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 26425972 26427353 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 26425974 26427302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 26444892 26444986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 2644708 2876647 Gain Autism qPCR, Illumina1M 20531469 CNTN4 chr3 26488840 26488940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2650155 3025952 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CNTN4 chr3 26507577 26530463 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 26507577 26552484 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 26558401 26565800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 26560493 26563748 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 26566280 26586861 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 26566280 26591799 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 26566280 26595923 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 26586502 26586890 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 26587031 26587169 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 2659674 2659774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 26628064 26628164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 26639001 26642000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 26639301 26727266 Gain and loss Pancreatic cancer SNP array 17952125 LRRC3B chr3 26639301 26727271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC3B chr3 26639301 26727271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC3B chr3 26654952 26662411 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 26688124 26688224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC3B chr3 26699218 26699318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC3B chr3 26761710 26762029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 26770432 26770571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 26777848 26777948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 26906402 26906571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 26906574 26906821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 27022169 27022699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 27109401 27110221 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 27112223 27112323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 27121688 27121788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 27127399 27385916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEK10 chr3 27127399 27385916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK10 chr3 27127408 27385916 Gain and loss Pancreatic cancer SNP array 17952125 NEK10 chr3 27160000 28900000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AZI2,CMC1,EOMES,LOC645206,NEK10,SLC4A7,ZCWPW2 chr3 27172765 27172853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 27282075 27282178 Gain and loss Pancreatic cancer SNP array 17952125 NEK10 chr3 27282075 27282178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK10 chr3 27304 559732 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHL1 chr3 27356204 27356288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK10 chr3 27361897 27394652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEK10 chr3 27379061 27379153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK10 chr3 27389218 27473249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEK10,SLC4A7 chr3 27389218 27473249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK10,SLC4A7 chr3 27389219 27473249 Gain and loss Pancreatic cancer SNP array 17952125 NEK10,SLC4A7 chr3 27405318 27405415 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEK10 chr3 27445441 27445531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A7 chr3 27472031 27487733 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC4A7 chr3 27498697 27498797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC4A7 chr3 27522138 31464690 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AZI2,CMC1,EOMES,GADL1,LOC645206,RBMS3,SLC4A7,TGFBR2,ZCWPW2 chr3 27530366 27530527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 27530366 27530528 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 27530366 27530529 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 27564254 27564353 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 27564255 27564352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 27601723 27615330 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 27649516 27650215 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 27665535 28402033 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AZI2,CMC1,EOMES chr3 27709398 27709498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2773132 2773232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 27732892 27738789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 27732892 27738789 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 27732892 27738789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 27737194 27737294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 27737501 27739000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 27807102 27807435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 278613 279197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CHL1 chr3 27906895 29133888 Gain Developmental delay affymetrix genechip 500K/SNP 6.16 array 21147756 AZI2,CMC1,LOC645206,ZCWPW2 chr3 27920310 29170015 Gain Developmental delay affymetrix genechip 500K/SNP 6.17 array 21147756 AZI2,CMC1,LOC645206,ZCWPW2 chr3 27931034 27931094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 2800000 16400000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,CNTN4,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,DPH3,EAF1,EDEM1,EGOT,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC401052,LOC440944,LRRN1,LSM3,METTL6,MIR4270,MIR4790,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NR2C2,NUP210,OGG1,OXNAD1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RFTN1,RPL32,RPUSD3,SEC13,SETD5,SETMAR,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TRNT1,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC,ZFYVE20 chr3 28030178 28030278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28067441 28067505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 28078340 28078372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28142461 28142786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 28158923 28173995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 28177348 28177428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28181881 29032736 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AZI2,CMC1,LOC645206,ZCWPW2 chr3 28199 549880 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHL1 chr3 28258101 28341615 Gain and loss Pancreatic cancer SNP array 17952125 CMC1 chr3 28258123 28336265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMC1 chr3 28258123 28336265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMC1 chr3 28267918 28268011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28277792 28442092 Copy number Schizophrenia - 18511947 AZI2,CMC1,ZCWPW2 chr3 28307024 28438601 Gain Normal Birdsuite, version 1.5.2 22087296 AZI2,CMC1,ZCWPW2 chr3 28339090 28365579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AZI2,CMC1 chr3 28339090 28365579 Gain and loss Pancreatic cancer SNP array 17952125 AZI2,CMC1 chr3 28339090 28365579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AZI2,CMC1 chr3 28365664 28541634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AZI2,ZCWPW2 chr3 28365664 28541634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AZI2,ZCWPW2 chr3 28367089 28368319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 AZI2 chr3 28368488 28368588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AZI2 chr3 28379 553372 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHL1 chr3 28401982 30685247 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC645206,RBMS3,TGFBR2,ZCWPW2 chr3 28443079 28490738 Loss Autism Exome sequencing and CGH 22495309 ZCWPW2 chr3 28448967 28481392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZCWPW2 chr3 28504 555828 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHL1 chr3 28556 1242186 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHL1,CNTN6 chr3 28591651 28592822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 28591651 28592822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 28599203 28599303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28658440 28658540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC645206 chr3 28659649 28659749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC645206 chr3 28706816 28707045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC645206 chr3 28707048 28707263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC645206 chr3 2878983 3693732 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN4,CRBN,IL5RA,TRNT1 chr3 2878983 3837081 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN4,CRBN,IL5RA,TRNT1 chr3 28832131 28844927 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 28839922 28840179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28840165 28840260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28878827 28878927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28890793 28890857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 28925220 28925768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 28928904 28929004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 28964310 28964396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 29013257 29016700 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 29062 566709 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHL1 chr3 29103886 29104883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 29103895 29104883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 29158899 29340599 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RBMS3 chr3 29158899 29670492 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 RBMS3 chr3 29166664 29166814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 29297947 30021623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBMS3 chr3 29297947 30021623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBMS3 chr3 29298029 30007759 Gain and loss Pancreatic cancer SNP array 17952125 RBMS3 chr3 29385832 29385916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBMS3 chr3 29595287 29595608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBMS3 chr3 2961990 2962180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 29623253 29623402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBMS3 chr3 2962987 2976085 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CNTN4 chr3 296589 319043 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHL1 chr3 29708376 31448915 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GADL1,RBMS3,TGFBR2 chr3 29740113 29740213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBMS3 chr3 29808314 29808414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBMS3 chr3 29820626 29820726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBMS3 chr3 29853373 29853473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBMS3 chr3 2989482 2990546 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 CNTN4 chr3 2997019 2997111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNTN4 chr3 29993285 29993349 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBMS3 chr3 3000000 5000000 Loss Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 CNTN4,CRBN,EGOT,IL5RA,ITPR1,LOC100507582,LRRN1,SETMAR,SUMF1,TRNT1 chr3 30005588 30006080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBMS3 chr3 30071286 30766334 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-385K arrays 21546498 TGFBR2 chr3 30108610 30108710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3011332 3056144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTN4 chr3 30141481 30141581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 30146360 30146479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 30182486 30182586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 30228227 30269426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 30229770 30339404 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 30242536 30759591 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 TGFBR2 chr3 30302871 30302971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 30320816 30321031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 30320817 30321031 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 30320817 30321031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 3036001 4326300 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNTN4,CRBN,IL5RA,LRRN1,TRNT1 chr3 30380682 30380782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3039800 3039894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 30512692 30512792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 30548854 30548954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3056095 3056187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN4 chr3 30622997 30710637 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 TGFBR2 chr3 30622997 30710637 Gain or loss Breast cancer - 20668451 TGFBR2 chr3 30622997 30710637 Gain or loss Cancer - 20668451 TGFBR2 chr3 30622997 30710637 Gain or loss Lung cancer - 20668451 TGFBR2 chr3 30622997 30710637 Gain or loss Ovarian cancer - 20668451 TGFBR2 chr3 30622997 30710637 Gain or loss Pancreas cancer - 20668451 TGFBR2 chr3 30622997 30710637 Gain or loss Prostate cancer - 20668451 TGFBR2 chr3 30622998 30710628 Gain and loss Pancreatic cancer SNP array 17952125 TGFBR2 chr3 30622998 30710637 Copy number Autism exome sequencing 22495311 TGFBR2 chr3 30622998 30710638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGFBR2 chr3 30622998 30710638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGFBR2 chr3 306254 351000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CHL1 chr3 30631359 30631459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 30639723 30642742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 30643315 30643410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 30703422 30703522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TGFBR2 chr3 30742696 30867341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GADL1 chr3 30742696 30867341 Gain and loss Pancreatic cancer SNP array 17952125 GADL1 chr3 30742696 30867341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GADL1 chr3 3086421 3127031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN4,IL5RA chr3 3086421 3127031 Gain and loss Pancreatic cancer SNP array 17952125 CNTN4,IL5RA chr3 3086421 3127031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN4,IL5RA chr3 30883488 30883588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GADL1 chr3 30886201 30886301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GADL1 chr3 3089691 3093363 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CNTN4 chr3 30898053 30898150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GADL1 chr3 30900000 32100000 Deletion Lung cancer CGH 16618734 GADL1,OSBPL10,OSBPL10-AS1,STT3B,ZNF860 chr3 30919099 30919199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GADL1 chr3 30969740 30974831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 3098326 3184518 Loss Autism qPCR 20531469 CNTN4,IL5RA,TRNT1 chr3 30989530 31448915 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 31060150 31060250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 31084442 31084762 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 31090129 31123026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 31100000 115000000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALCAM,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATG3,ATP6V1A,ATRIP,ATXN7,BAP1,BBX,BOC,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf35,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC54,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD96,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLASP2,CLDND1,CLEC3B,CMSS1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL7A1,COL8A1,CPOX,CRTAP,CRYBG3,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DUSP7,DYNC1LI1,DZIP3,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXL2,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GABRR3,GBE1,GCSAM,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR128,GPR15,GPR27,GPR62,GPX1,GRAMD1C,GRM2,GTDC2,GTPBP8,GUCA1C,GXYLT2,HEMK1,HESX1,HHATL,HHLA2,HIGD1A,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT57,IL17RB,IL17RD,IMPDH2,IMPG2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100132146,LOC100287879,LOC100302640,LOC100506994,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC344595,LOC401074,LOC440970,LOC646498,LRIG1,LRRC2,LRRFIP2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4793,MIR4795,MIR4796,MIR5193,MIR548A2,MIR548A3,MIR548G,MIR564,MIR567,MIR568,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MORC1,MST1,MST1R,MUSTN1,MYD88,MYH15,MYL3,MYRIP,NAA50,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NFKBIZ,NICN1,NISCH,NIT2,NKTR,NME6,NPRL2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PHLDB2,PLCD1,PLCXD2,PLXNB1,POC1A,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RETNLB,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SENP7,SETD2,SFMBT1,SHISA5,SHQ1,SIDT1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC35A5,SLC38A3,SLC6A20,SLC9C1,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPICE1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STT3B,STX19,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGM4,THOC7,TIGIT,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNNC1,TOMM70A,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRIM71,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB47,ZDHHC23,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1 chr3 31100000 115000000 Loss Hepatocellular carcinoma Array CGH 16750200 ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALCAM,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATG3,ATP6V1A,ATRIP,ATXN7,BAP1,BBX,BOC,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf35,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC54,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD96,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLASP2,CLDND1,CLEC3B,CMSS1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL7A1,COL8A1,CPOX,CRTAP,CRYBG3,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DUSP7,DYNC1LI1,DZIP3,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXL2,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GABRR3,GBE1,GCSAM,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR128,GPR15,GPR27,GPR62,GPX1,GRAMD1C,GRM2,GTDC2,GTPBP8,GUCA1C,GXYLT2,HEMK1,HESX1,HHATL,HHLA2,HIGD1A,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT57,IL17RB,IL17RD,IMPDH2,IMPG2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100132146,LOC100287879,LOC100302640,LOC100506994,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC344595,LOC401074,LOC440970,LOC646498,LRIG1,LRRC2,LRRFIP2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4793,MIR4795,MIR4796,MIR5193,MIR548A2,MIR548A3,MIR548G,MIR564,MIR567,MIR568,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MORC1,MST1,MST1R,MUSTN1,MYD88,MYH15,MYL3,MYRIP,NAA50,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NFKBIZ,NICN1,NISCH,NIT2,NKTR,NME6,NPRL2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PHLDB2,PLCD1,PLCXD2,PLXNB1,POC1A,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RETNLB,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SENP7,SETD2,SFMBT1,SHISA5,SHQ1,SIDT1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC35A5,SLC38A3,SLC6A20,SLC9C1,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPICE1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STT3B,STX19,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGM4,THOC7,TIGIT,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNNC1,TOMM70A,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRIM71,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB47,ZDHHC23,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1 chr3 31100000 123400000 Loss Cancer array-based techniques 21183584 ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATG3,ATP6V1A,ATRIP,ATXN7,B4GALT4,BAP1,BBX,BOC,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf30,C3orf35,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLASP2,CLDND1,CLEC3B,CMSS1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL7A1,COL8A1,COX17,CPOX,CRTAP,CRYBG3,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DIRC2,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DYNC1LI1,DZIP3,EAF2,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM162A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXL2,FBXO40,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FSTL1,FYCO1,GABRR3,GAP43,GBE1,GCSAM,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GOLGB1,GORASP1,GPD1L,GPR128,GPR15,GPR156,GPR27,GPR62,GPX1,GRAMD1C,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,HCLS1,HEMK1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HSPBAP1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLHDC8B,KLHL18,KPNA1,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100132146,LOC100287879,LOC100302640,LOC100506994,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC344595,LOC401074,LOC440970,LOC646498,LRIG1,LRRC2,LRRC58,LRRFIP2,LRTM1,LSAMP,LSAMP-AS3,LTF,LUST,LYZL4,LZTFL1,MAATS1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR198,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4793,MIR4795,MIR4796,MIR5193,MIR548A2,MIR548A3,MIR548G,MIR564,MIR567,MIR568,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MORC1,MST1,MST1R,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYRIP,NAA50,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NDUFB4,NEK4,NFKBIZ,NICN1,NISCH,NIT2,NKTR,NME6,NPRL2,NR1I2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OXSR1,P4HTM,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PFKFB4,PHF7,PHLDB2,PLA1A,PLCD1,PLCXD2,PLXNB1,POC1A,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RABL3,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RETNLB,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP7,SETD2,SFMBT1,SHISA5,SHQ1,SIDT1,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC35A5,SLC38A3,SLC6A20,SLC9C1,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPICE1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STT3B,STX19,STXBP5L,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGM4,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM39A,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNNC1,TOMM70A,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRIM71,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UBP1,UCN2,ULK4,UPK1B,UQCRC1,USP19,USP4,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR5B,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB47,ZDHHC23,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZNF860,ZPLD1 chr3 3119597 3119737 Gain and loss Pancreatic cancer SNP array 17952125 IL5RA chr3 3119599 3119694 Gain and loss Pancreatic cancer SNP array 17952125 IL5RA chr3 31198250 31199145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 31198250 31199145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 31210539 31210588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 31210593 31210688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 31227093 31227162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 31245211 31245325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 3132189 3132269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IL5RA chr3 3133651 3133719 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IL5RA chr3 31347998 31348048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 31384916 31395810 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 31387858 31387958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3143600 3165702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL5RA chr3 3143600 3165702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL5RA chr3 3143635 3167521 Gain and loss Pancreatic cancer SNP array 17952125 IL5RA chr3 31469336 31472330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 31477964 31478724 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr3 31507887 31508211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 31549286 31654116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STT3B chr3 31549286 31654116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STT3B chr3 31549495 31652560 Gain and loss Pancreatic cancer SNP array 17952125 STT3B chr3 31554691 31609541 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 STT3B chr3 31634087 31634187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STT3B chr3 3166698 3196390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRBN,TRNT1 chr3 3166698 3196390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRBN,TRNT1 chr3 3166703 3196390 Gain and loss Pancreatic cancer SNP array 17952125 CRBN,TRNT1 chr3 31674407 31998242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OSBPL10,OSBPL10-AS1,STT3B chr3 31674407 31998242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL10,OSBPL10-AS1,STT3B chr3 31675601 32384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CMTM8,GPD1L,OSBPL10,OSBPL10-AS1,STT3B,ZNF860 chr3 31677327 31998242 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL10,OSBPL10-AS1,STT3B chr3 31745786 31745886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL10,OSBPL10-AS1 chr3 31776401 31817771 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OSBPL10 chr3 31776401 31817771 Copy number gain Normal High-resolution SNP genotyping 21211785 OSBPL10 chr3 31779195 31814267 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OSBPL10 chr3 31779195 31814267 Copy number gain Normal High-resolution SNP genotyping 21211785 OSBPL10 chr3 31779195 31817771 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OSBPL10 chr3 31779195 31817771 Copy number gain Normal High-resolution SNP genotyping 21211785 OSBPL10 chr3 31808858 31808958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL10 chr3 31810966 31812507 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL10 chr3 31827595 31827695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL10 chr3 31829217 31829314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OSBPL10 chr3 31831635 31831692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 OSBPL10 chr3 318603 318703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHL1 chr3 31876005 32046043 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 OSBPL10,ZNF860 chr3 31881153 31881400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL10 chr3 31881276 31881392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL10 chr3 31881378 31881613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL10 chr3 31924010 31924070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OSBPL10 chr3 3194462 3228285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRBN chr3 32005624 32007183 Gain and loss Pancreatic cancer SNP array 17952125 OSBPL10 chr3 32005624 32007186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OSBPL10 chr3 32043813 32043842 Loss or gain Normal 244K array 17666407 NOT_FOUND chr3 32054022 32054149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 32054022 32054149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 32054023 32054149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 32056220 32056265 Loss Normal 244K array 17666407 NOT_FOUND chr3 32062370 32062471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 32062370 32062473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 32071577 32091756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 32071875 32084659 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 32075301 32084700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 32077027 32094764 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 32077055 32082887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 32077088 32082966 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 32077501 32082500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 32077906 32081854 Gain Normal 244K array 17666407 NOT_FOUND chr3 32100000 36500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARPP21,CCR4,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,DYNC1LI1,FBXL2,GLB1,GPD1L,MIR128-2,PDCD6IP,STAC,SUSD5,TMPPE,TRIM71,UBP1 chr3 32100000 36500000 Gain Esophageal squamous carcinoma Array CGH 17470683 ARPP21,CCR4,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,DYNC1LI1,FBXL2,GLB1,GPD1L,MIR128-2,PDCD6IP,STAC,SUSD5,TMPPE,TRIM71,UBP1 chr3 32100000 43600000 Amplification Medulloblastoma SNP arrays 21979893 ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,DYNC1LI1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR128-2,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PDCD6IP,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,SUSD5,TMPPE,TRAK1,TRANK1,TRIM71,TTC21A,UBP1,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 32100000 43600000 Copy number Wilms tumour References 17204608 ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,DYNC1LI1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR128-2,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PDCD6IP,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,SUSD5,TMPPE,TRAK1,TRANK1,TRIM71,TTC21A,UBP1,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 32100000 43600000 Deletion Biliary cancer Array CGH 19435499 ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,DYNC1LI1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR128-2,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PDCD6IP,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,SUSD5,TMPPE,TRAK1,TRANK1,TRIM71,TTC21A,UBP1,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 32100000 43600000 Loss Non-small cell lung cancer dChip 21829676 ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,DYNC1LI1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR128-2,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PDCD6IP,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,SUSD5,TMPPE,TRAK1,TRANK1,TRIM71,TTC21A,UBP1,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 32100000 43600000 Loss Non-small cell lung cancer In situ minichips 20864512 ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,DYNC1LI1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR128-2,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PDCD6IP,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,SUSD5,TMPPE,TRAK1,TRANK1,TRIM71,TTC21A,UBP1,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 32100000 43600000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,DYNC1LI1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR128-2,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PDCD6IP,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,SUSD5,TMPPE,TRAK1,TRANK1,TRIM71,TTC21A,UBP1,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 32100000 43700000 Deletion head and neck squamous cell carcinoma qReal-Time PCR 19451471 ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,DYNC1LI1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR128-2,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PDCD6IP,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,SUSD5,TMPPE,TRAK1,TRANK1,TRIM71,TTC21A,UBP1,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 32100000 44400000 Gain Medulloblastoma SNP arrays 21979893 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANO10,ARPP21,C3orf35,C3orf77,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR4,CCR8,CLASP2,CMTM6,CMTM7,CMTM8,CNOT10,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,DYNC1LI1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FBXL2,FLJ33065,GLB1,GOLGA4,GORASP1,GPD1L,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR128-2,MIR138-1,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PDCD6IP,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,SUSD5,TCAIM,TMPPE,TRAK1,TRANK1,TRIM71,TTC21A,UBP1,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 32100000 51400000 Deletion Biliary cancer Array CGH 19435499 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ARPP21,ATRIP,BSN,BSN-AS2,C3orf18,C3orf35,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLASP2,CLEC3B,CMTM6,CMTM7,CMTM8,CNOT10,COL7A1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCLK3,DHX30,DLEC1,DOCK3,DYNC1LI1,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FBXL2,FBXW12,FLJ33065,FLJ39534,FYCO1,GLB1,GMPPB,GNAI2,GNAT1,GOLGA4,GORASP1,GPD1L,GPX1,GTDC2,HEMK1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,ITGA9,KBTBD5,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LRRFIP2,LTF,LUST,LYZL4,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR128-2,MIR138-1,MIR191,MIR26A1,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MLH1,MOBP,MON1A,MST1,MST1R,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NKTR,NME6,NPRL2,NRADDP,OXSR1,P4HTM,PDCD6IP,PFKFB4,PLCD1,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RPL14,RPSA,RTP3,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SEMA3B,SEMA3F,SETD2,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORA6,SNORA62,SNRK,SNRK-AS1,SPINK8,SS18L2,STAC,SUSD5,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TMPPE,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TTC21A,TUSC2,UBA7,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VILL,VIPR1,WDR48,WDR6,XCR1,XIRP1,XYLB,ZBTB47,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662 chr3 32100000 54400000 Loss Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACAA1,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ARPP21,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf35,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLASP2,CLEC3B,CMTM6,CMTM7,CMTM8,CNOT10,COL7A1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DOCK3,DUSP7,DYNC1LI1,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FBXL2,FBXW12,FLJ33065,FLJ39534,FYCO1,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRM2,GTDC2,HEMK1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LRRFIP2,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MLH1,MOBP,MON1A,MST1,MST1R,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NKTR,NME6,NPRL2,NRADDP,NT5DC2,OXSR1,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PFKFB4,PHF7,PLCD1,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL14,RPL29,RPSA,RRP9,RTP3,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPCS1,SPINK8,SS18L2,STAB1,STAC,SUSD5,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TMPPE,TNNC1,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TTC21A,TUSC2,TWF2,UBA7,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,XCR1,XIRP1,XYLB,ZBTB47,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662 chr3 32104710 32150101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPD1L chr3 32123027 32185209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPD1L chr3 32123027 32185209 Gain and loss Pancreatic cancer SNP array 17952125 GPD1L chr3 32123027 32185209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPD1L chr3 32123147 32185204 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 GPD1L chr3 32128723 32128879 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 32128745 32128901 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 32176754 32177084 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPD1L chr3 32178866 32179147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPD1L chr3 32189152 32189245 Gain and loss Pancreatic cancer SNP array 17952125 GPD1L chr3 32189152 32189245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPD1L chr3 32207279 32207820 Gain and loss Pancreatic cancer SNP array 17952125 GPD1L chr3 32255175 32386815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMTM8 chr3 32255175 32386815 Gain and loss Pancreatic cancer SNP array 17952125 CMTM8 chr3 32255175 32386815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM8 chr3 32259995 32260070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 32275405 32276105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 32276225 32276320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 32293487 32293595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CMTM8 chr3 32313943 32314834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CMTM8 chr3 32313997 32314528 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CMTM8 chr3 32395586 32395734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CMTM8 chr3 32408166 32471337 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 CMTM7,CMTM8 chr3 32408167 32471337 Gain and loss Pancreatic cancer SNP array 17952125 CMTM7,CMTM8 chr3 32408167 32485079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMTM7,CMTM8 chr3 32408167 32485079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM7,CMTM8 chr3 32426209 32426258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 32449026 32449126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMTM7 chr3 32450804 33024188 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 CCR4,CMTM6,CMTM7,CNOT10,DYNC1LI1,TRIM71 chr3 32472346 33017605 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CCR4,CMTM6,CMTM7,CNOT10,DYNC1LI1,TRIM71 chr3 32475028 32475108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMTM7 chr3 32497808 32519407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 32497808 32519407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 32497808 32519869 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 32524451 32524821 Gain and loss Pancreatic cancer SNP array 17952125 CMTM6 chr3 32524451 32524821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM6 chr3 32533861 32533931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMTM6 chr3 32542473 32587346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMTM6,DYNC1LI1 chr3 32542473 32587354 Gain and loss Pancreatic cancer SNP array 17952125 CMTM6,DYNC1LI1 chr3 32563236 32572930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DYNC1LI1 chr3 32596239 32596339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DYNC1LI1 chr3 32621814 32622814 Gain Chordoma References 21215367 NOT_FOUND chr3 32701684 32790358 Gain and loss Pancreatic cancer SNP array 17952125 CNOT10 chr3 32701702 32790358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNOT10 chr3 32701702 32790358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNOT10 chr3 32710661 32710736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 32710661 32710736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 32769424 32770397 Gain and loss Pancreatic cancer SNP array 17952125 CNOT10 chr3 32769645 32770397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNOT10 chr3 32779801 32784900 Deletion Glioma mate-paired sequence 20126413 CNOT10 chr3 32781751 32783065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CNOT10 chr3 32802142 32802525 Gain and loss Pancreatic cancer SNP array 17952125 CNOT10 chr3 32802142 32802612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNOT10 chr3 32823178 32823248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 32834513 32908775 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 TRIM71 chr3 32834513 32908775 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 TRIM71 chr3 32834514 32908756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM71 chr3 32834514 32908756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM71 chr3 32900000 131500000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ABTB1,ACAA1,ACAD9,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ASTE1,ATG3,ATP2C1,ATP6V1A,ATRIP,ATXN7,B4GALT4,BAP1,BBX,BOC,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf22,C3orf27,C3orf30,C3orf35,C3orf37,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC14,CCDC36,CCDC37,CCDC48,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHST13,CISH,CLASP2,CLDND1,CLEC3B,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL7A1,COL8A1,COPG1,COX17,CPNE4,CPOX,CRTAP,CRYBG3,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DIRC2,DLEC1,DNAH1,DNAH12,DNAJB8,DNAJB8-AS1,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DZIP3,EAF2,EBLN2,EEFSEC,EFCAB12,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM162A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FAM86HP,FAM86JP,FBXL2,FBXO40,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FSTL1,FYCO1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GOLGB1,GORASP1,GP9,GPR128,GPR15,GPR156,GPR27,GPR62,GPX1,GRAMD1C,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HEMK1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HSPBAP1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT122,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ISY1,ISY1-RAB43,ITGA9,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KBTBD12,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLF15,KLHDC8B,KLHL18,KPNA1,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100132146,LOC100287879,LOC100302640,LOC100506994,LOC100507032,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC339874,LOC344595,LOC401074,LOC440970,LOC646498,LOC653712,LOC90246,LRIG1,LRRC2,LRRC58,LRRFIP2,LRTM1,LSAMP,LSAMP-AS3,LTF,LUST,LYZL4,LZTFL1,MAATS1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MBD4,MCM2,MGLL,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR198,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4793,MIR4795,MIR4796,MIR5002,MIR5092,MIR5193,MIR548A2,MIR548A3,MIR548G,MIR548I1,MIR564,MIR567,MIR568,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MORC1,MRPL3,MST1,MST1R,MUC13,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYRIP,NAA50,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NDUFB4,NEK11,NEK4,NFKBIZ,NICN1,NISCH,NIT2,NKTR,NME6,NPRL2,NR1I2,NRADDP,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OXSR1,P4HTM,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDIA5,PDZRN3,PFKFB4,PHF7,PHLDB2,PIK3R4,PLA1A,PLCD1,PLCXD2,PLXNA1,PLXNB1,PLXND1,POC1A,PODXL2,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RAB43,RAB7A,RABL3,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RETNLB,RFT1,RHO,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL14,RPL24,RPL29,RPL32P3,RPN1,RPP14,RPSA,RRP9,RTP3,RUVBL1,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22A,SEC22C,SEC61A1,SELK,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP7,SETD2,SFMBT1,SHISA5,SHQ1,SIDT1,SLC12A8,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC35A5,SLC38A3,SLC41A3,SLC6A20,SLC9C1,SLMAP,SMARCC1,SNORA58,SNORA6,SNORA62,SNORA7B,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SNX4,SPATA12,SPCS1,SPICE1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STX19,STXBP5L,SUCLG2,SUSD5,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGM4,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMA7,TMCC1,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM39A,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TMPRSS7,TNNC1,TOMM70A,TPRA1,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRH,TRIM71,TRMT10C,TTC21A,TUSC2,TWF2,TXNRD3,TXNRD3NB,UBA3,UBA7,UBP1,UCN2,ULK4,UMPS,UPK1B,UQCRC1,UROC1,USP19,USP4,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR5B,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB47,ZDHHC23,ZDHHC3,ZMYND10,ZNF148,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZPLD1,ZXDC chr3 32915763 32915858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TRIM71 chr3 32968069 32971407 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr3 32968070 32971407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 32968070 32971407 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 32968070 32971407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 32982886 33016469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCR4 chr3 33008729 33008819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 33009961 33043721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLB1 chr3 33013103 33113698 Deletion GM1 gangliosidosis and Morquio B disease - 21497194 GLB1 chr3 33013104 33113698 Copy number Autism exome sequencing 22495311 GLB1 chr3 33013104 33113698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLB1 chr3 33013104 33113698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLB1 chr3 33013114 33113638 Gain and loss Pancreatic cancer SNP array 17952125 GLB1 chr3 33013866 33014088 Gain Normal 244K array 17666407 NOT_FOUND chr3 33042001 33044000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GLB1 chr3 33106921 33113297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLB1 chr3 33106921 33113297 Gain and loss Pancreatic cancer SNP array 17952125 GLB1 chr3 33106921 33113297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLB1 chr3 3310754 3310859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 33119504 33119800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLB1 chr3 33119504 33119801 Gain and loss Pancreatic cancer SNP array 17952125 GLB1 chr3 33130483 33164269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRTAP,GLB1,TMPPE chr3 33130483 33164269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTAP,GLB1,TMPPE chr3 33130574 33159660 Gain and loss Pancreatic cancer SNP array 17952125 CRTAP,GLB1,TMPPE chr3 33166541 33235711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRTAP,SUSD5 chr3 33166541 33235711 Gain and loss Pancreatic cancer SNP array 17952125 CRTAP,SUSD5 chr3 33166541 33235711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRTAP,SUSD5 chr3 33173267 33173352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRTAP chr3 33270111 33446477 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FBXL2,UBP1 chr3 33270957 33296620 Gain Normal Illumina 300K SNP 19997636 NOT_FOUND chr3 33272926 33273026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 33275944 33276251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 33293938 33403121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL2 chr3 33293938 33403121 Gain and loss Pancreatic cancer SNP array 17952125 FBXL2 chr3 33293938 33403121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL2 chr3 333634 4329976 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,LRRN1,TRNT1 chr3 33404835 33456874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXL2,UBP1 chr3 33404835 33456874 Gain and loss Pancreatic cancer SNP array 17952125 FBXL2,UBP1 chr3 33404835 33456874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL2,UBP1 chr3 33448462 33448562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UBP1 chr3 33507996 33508096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 33508473 33508594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 33508479 33508594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 33508479 33508594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 3351093 3351193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 33512745 33734852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLASP2 chr3 33512745 33734852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLASP2 chr3 33513489 33734852 Gain and loss Pancreatic cancer SNP array 17952125 CLASP2 chr3 33528194 33529079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 33539395 33539495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLASP2 chr3 33553106 33553200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLASP2 chr3 33605566 33637521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLASP2 chr3 33610724 33610824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLASP2 chr3 3364207 3364286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 33654726 33686888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLASP2 chr3 33659 555373 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CHL1 chr3 33739601 33771887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CLASP2 chr3 33744870 33744970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLASP2 chr3 33797685 33797816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 33814561 33886198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDCD6IP chr3 33814561 33886198 Gain and loss Pancreatic cancer SNP array 17952125 PDCD6IP chr3 33814561 33886198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDCD6IP chr3 33834690 33869141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDCD6IP chr3 33852000 33876311 Duplication Non-syndromic sensorineural hearing loss References 19212409 PDCD6IP chr3 33876701 34433300 Copy number Normal ReadDepth: A Parallel R Package 21305028 PDCD6IP chr3 33916289 38634279 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ACAA1,ACVR2B,ACVR2B-AS1,ARPP21,C3orf35,CTDSPL,DCLK3,DLEC1,EPM2AIP1,EXOG,GOLGA4,ITGA9,LRRFIP2,MIR128-2,MIR26A1,MLH1,MYD88,OXSR1,PLCD1,SCN5A,SLC22A13,SLC22A14,STAC,TRANK1,VILL,XYLB chr3 33921748 33921833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34094745 34095325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 34110161 34110250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3416718 3417718 Gain Chordoma References 21215367 NOT_FOUND chr3 3416899 3416987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34197193 35103050 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 34197193 37005233 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARPP21,DCLK3,MIR128-2,STAC,TRANK1 chr3 34239095 34240531 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr3 34301235 36008922 LOH Normal High-resolution SNP genotyping 21211785 ARPP21,MIR128-2 chr3 34303674 34303774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34312987 34346573 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 34369992 34370092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34407795 34407895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34416839 34416939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3441984 3442363 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 34507144 34507306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 3456046 3458340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 34573648 35036992 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 NOT_FOUND chr3 34577652 34577752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34598917 34599017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34615232 34615332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34635350 38466380 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ACAA1,ARPP21,C3orf35,CTDSPL,DCLK3,DLEC1,EPM2AIP1,GOLGA4,ITGA9,LRRFIP2,MIR128-2,MIR26A1,MLH1,MYD88,OXSR1,PLCD1,SLC22A13,SLC22A14,STAC,TRANK1,VILL,XYLB chr3 34700000 123400000 Duplication Bipolar disorder - 20877625 ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATG3,ATP6V1A,ATRIP,ATXN7,B4GALT4,BAP1,BBX,BOC,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf30,C3orf35,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR5,CCR8,CCR9,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLDND1,CLEC3B,CMSS1,CNTN3,COL7A1,COL8A1,COX17,CPOX,CRYBG3,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DIRC2,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DZIP3,EAF2,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM162A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXO40,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FSTL1,FYCO1,GABRR3,GAP43,GBE1,GCSAM,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GOLGB1,GORASP1,GPR128,GPR15,GPR156,GPR27,GPR62,GPX1,GRAMD1C,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,HCLS1,HEMK1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HSPBAP1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLHDC8B,KLHL18,KPNA1,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100132146,LOC100287879,LOC100302640,LOC100506994,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC344595,LOC401074,LOC440970,LOC646498,LRIG1,LRRC2,LRRC58,LRRFIP2,LRTM1,LSAMP,LSAMP-AS3,LTF,LUST,LYZL4,LZTFL1,MAATS1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR198,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4793,MIR4795,MIR4796,MIR5193,MIR548A2,MIR548A3,MIR548G,MIR564,MIR567,MIR568,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MORC1,MST1,MST1R,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYRIP,NAA50,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NDUFB4,NEK4,NFKBIZ,NICN1,NISCH,NIT2,NKTR,NME6,NPRL2,NR1I2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OXSR1,P4HTM,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCNP,PDE12,PDHB,PDIA5,PDZRN3,PFKFB4,PHF7,PHLDB2,PLA1A,PLCD1,PLCXD2,PLXNB1,POC1A,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RABL3,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RETNLB,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP7,SETD2,SFMBT1,SHISA5,SHQ1,SIDT1,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC35A5,SLC38A3,SLC6A20,SLC9C1,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPICE1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGM4,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM39A,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPRSS7,TNNC1,TOMM70A,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UCN2,ULK4,UPK1B,UQCRC1,USP19,USP4,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR5B,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB47,ZDHHC23,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZPLD1 chr3 34700000 123400000 Duplication Bipolar disorder high-density microarrays 22241247 ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATG3,ATP6V1A,ATRIP,ATXN7,B4GALT4,BAP1,BBX,BOC,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf30,C3orf35,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR5,CCR8,CCR9,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLDND1,CLEC3B,CMSS1,CNTN3,COL7A1,COL8A1,COX17,CPOX,CRYBG3,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DIRC2,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DZIP3,EAF2,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM162A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXO40,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FSTL1,FYCO1,GABRR3,GAP43,GBE1,GCSAM,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GOLGB1,GORASP1,GPR128,GPR15,GPR156,GPR27,GPR62,GPX1,GRAMD1C,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,HCLS1,HEMK1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HSPBAP1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLHDC8B,KLHL18,KPNA1,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100132146,LOC100287879,LOC100302640,LOC100506994,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC344595,LOC401074,LOC440970,LOC646498,LRIG1,LRRC2,LRRC58,LRRFIP2,LRTM1,LSAMP,LSAMP-AS3,LTF,LUST,LYZL4,LZTFL1,MAATS1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR198,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4793,MIR4795,MIR4796,MIR5193,MIR548A2,MIR548A3,MIR548G,MIR564,MIR567,MIR568,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MORC1,MST1,MST1R,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYRIP,NAA50,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NDUFB4,NEK4,NFKBIZ,NICN1,NISCH,NIT2,NKTR,NME6,NPRL2,NR1I2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OXSR1,P4HTM,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCNP,PDE12,PDHB,PDIA5,PDZRN3,PFKFB4,PHF7,PHLDB2,PLA1A,PLCD1,PLCXD2,PLXNB1,POC1A,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RABL3,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RETNLB,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP7,SETD2,SFMBT1,SHISA5,SHQ1,SIDT1,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC35A5,SLC38A3,SLC6A20,SLC9C1,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPICE1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGM4,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM39A,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPRSS7,TNNC1,TOMM70A,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UCN2,ULK4,UPK1B,UQCRC1,USP19,USP4,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR5B,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB47,ZDHHC23,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZPLD1 chr3 34700000 123400000 Duplication Bipolar disorder References 21956041 ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATG3,ATP6V1A,ATRIP,ATXN7,B4GALT4,BAP1,BBX,BOC,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf30,C3orf35,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR5,CCR8,CCR9,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLDND1,CLEC3B,CMSS1,CNTN3,COL7A1,COL8A1,COX17,CPOX,CRYBG3,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DIRC2,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DZIP3,EAF2,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM162A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXO40,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FSTL1,FYCO1,GABRR3,GAP43,GBE1,GCSAM,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GOLGB1,GORASP1,GPR128,GPR15,GPR156,GPR27,GPR62,GPX1,GRAMD1C,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,HCLS1,HEMK1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HSPBAP1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLHDC8B,KLHL18,KPNA1,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100132146,LOC100287879,LOC100302640,LOC100506994,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC344595,LOC401074,LOC440970,LOC646498,LRIG1,LRRC2,LRRC58,LRRFIP2,LRTM1,LSAMP,LSAMP-AS3,LTF,LUST,LYZL4,LZTFL1,MAATS1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR198,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4793,MIR4795,MIR4796,MIR5193,MIR548A2,MIR548A3,MIR548G,MIR564,MIR567,MIR568,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MORC1,MST1,MST1R,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYRIP,NAA50,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NDUFB4,NEK4,NFKBIZ,NICN1,NISCH,NIT2,NKTR,NME6,NPRL2,NR1I2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OXSR1,P4HTM,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCNP,PDE12,PDHB,PDIA5,PDZRN3,PFKFB4,PHF7,PHLDB2,PLA1A,PLCD1,PLCXD2,PLXNB1,POC1A,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RABL3,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RETNLB,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP7,SETD2,SFMBT1,SHISA5,SHQ1,SIDT1,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC35A5,SLC38A3,SLC6A20,SLC9C1,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPICE1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGM4,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM39A,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPRSS7,TNNC1,TOMM70A,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UCN2,ULK4,UPK1B,UQCRC1,USP19,USP4,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR5B,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB47,ZDHHC23,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZPLD1 chr3 34700000 123400000 Loss Biliary cancer from references 18923514 ABHD10,ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARPP21,ASB14,ATG3,ATP6V1A,ATRIP,ATXN7,B4GALT4,BAP1,BBX,BOC,BSN,BSN-AS2,BTLA,C3orf14,C3orf17,C3orf18,C3orf30,C3orf35,C3orf38,C3orf45,C3orf49,C3orf52,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CASR,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC54,CCDC58,CCDC66,CCDC71,CCDC80,CCK,CCR1,CCR2,CCR3,CCR5,CCR8,CCR9,CCRL2,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHDH,CHMP2B,CISH,CLDND1,CLEC3B,CMSS1,CNTN3,COL7A1,COL8A1,COX17,CPOX,CRYBG3,CSPG5,CSRNP1,CSTA,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DIRC2,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPPA2,DPPA4,DRD3,DTX3L,DUSP7,DZIP3,EAF2,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM162A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXO40,FBXW12,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FSTL1,FYCO1,GABRR3,GAP43,GBE1,GCSAM,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GOLGB1,GORASP1,GPR128,GPR15,GPR156,GPR27,GPR62,GPX1,GRAMD1C,GRM2,GSK3B,GTDC2,GTF2E1,GTPBP8,GUCA1C,GXYLT2,HCLS1,HEMK1,HESX1,HGD,HHATL,HHLA2,HIGD1A,HSPBAP1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,ILDR1,IMPDH2,IMPG2,IP6K1,IP6K2,IQCB1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITGA9,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIAA1407,KIAA1524,KIAA2018,KIF15,KIF9,KLHDC8B,KLHL18,KPNA1,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100132146,LOC100287879,LOC100302640,LOC100506994,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC344595,LOC401074,LOC440970,LOC646498,LRIG1,LRRC2,LRRC58,LRRFIP2,LRTM1,LSAMP,LSAMP-AS3,LTF,LUST,LYZL4,LZTFL1,MAATS1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR198,MIR26A1,MIR3136,MIR3921,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4446,MIR4787,MIR4793,MIR4795,MIR4796,MIR5193,MIR548A2,MIR548A3,MIR548G,MIR564,MIR567,MIR568,MIR5688,MIR711,MIRLET7G,MITF,MLH1,MOBP,MON1A,MORC1,MST1,MST1R,MUSTN1,MYD88,MYH15,MYL3,MYLK,MYLK-AS1,MYRIP,NAA50,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NDUFB4,NEK4,NFKBIZ,NICN1,NISCH,NIT2,NKTR,NME6,NPRL2,NR1I2,NRADDP,NSUN3,NT5DC2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OXSR1,P4HTM,PARP14,PARP15,PARP3,PARP9,PBRM1,PCBP4,PCNP,PDE12,PDHB,PDIA5,PDZRN3,PFKFB4,PHF7,PHLDB2,PLA1A,PLCD1,PLCXD2,PLXNB1,POC1A,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPLB,PTPN23,PTPRG,PVRL3,PVRL3-AS1,PXK,QARS,QRICH1,QTRTD1,RABL3,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RETNLB,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL24,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SCN10A,SCN11A,SCN5A,SEC22A,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SEMA5B,SENP7,SETD2,SFMBT1,SHISA5,SHQ1,SIDT1,SLC15A2,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC35A5,SLC38A3,SLC6A20,SLC9C1,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPICE1,SPINK8,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TCAIM,TCTA,TDGF1,TEX264,TFG,TGM4,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM39A,TMEM42,TMEM45A,TMEM89,TMF1,TMIE,TMPRSS7,TNNC1,TOMM70A,TRAIP,TRAK1,TRANK1,TRAT1,TREX1,TRMT10C,TTC21A,TUSC2,TWF2,UBA3,UBA7,UCN2,ULK4,UPK1B,UQCRC1,USP19,USP4,VGLL3,VILL,VIPR1,VPRBP,WDR48,WDR52,WDR52-AS1,WDR5B,WDR6,WDR82,WNT5A,XCR1,XIRP1,XYLB,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB47,ZDHHC23,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF80,ZPLD1 chr3 3474844 3474929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34772795 34772895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3478073 3478171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34787533 34787651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3479987 3480087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 34907130 34907225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3500000 5500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL8B,BHLHE40,EDEM1,EGOT,ITPR1,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1 chr3 3500000 5500000 Deletion Autism high-density microarrays 22241247 ARL8B,BHLHE40,EDEM1,EGOT,ITPR1,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1 chr3 3500000 5500000 Deletion Schizophrenia high-density microarrays 22241247 ARL8B,BHLHE40,EDEM1,EGOT,ITPR1,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1 chr3 3500000 5500000 Loss Squamous cell cancer array-CGH 19607727 ARL8B,BHLHE40,EDEM1,EGOT,ITPR1,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1 chr3 35026662 35026989 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 35168842 35168942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 35190845 35190939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 35224766 35224863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 35225818 35409506 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 35242486 35242586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 35256344 35968450 LOH Normal High-resolution SNP genotyping 21211785 ARPP21,MIR128-2 chr3 35273336 35273442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 35279467 36490000 LOH Normal High-resolution SNP genotyping 21211785 ARPP21,MIR128-2,STAC chr3 35333 1199333 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 CHL1,CNTN6 chr3 35333 47871 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 35333 52301 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 35346418 35346628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 35346625 35346838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 35361572 36491330 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARPP21,MIR128-2,STAC chr3 3539068 3580658 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 35470998 35711576 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-403K arrays 21546498 ARPP21 chr3 35557196 35564769 Gain Normal 244K array 17666407 NOT_FOUND chr3 35558905 35559005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 35594217 35594317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3564180 3596878 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 35656084 35810992 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 ARPP21,MIR128-2 chr3 35657514 35810991 Gain and loss Pancreatic cancer SNP array 17952125 ARPP21,MIR128-2 chr3 35658853 35810992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARPP21,MIR128-2 chr3 35658853 35810992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARPP21,MIR128-2 chr3 35680287 35680387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3568124 3839892 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr3 35739288 35739388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARPP21 chr3 3575601 4019800 Deletion Glioma mate-paired sequence 20126413 LRRN1 chr3 35760972 35761055 Deletion Acute myeloid leukemia BAC aCGH 20962326 ARPP21 chr3 35760972 35761055 Gain and loss Pancreatic cancer SNP array 17952125 ARPP21 chr3 35760972 35761055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARPP21 chr3 35796249 35916128 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 ARPP21 chr3 35803162 35803395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARPP21 chr3 35898571 35898671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3592016 3606128 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 3592016 3607459 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 3592016 3608342 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 3592464 3592564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 35940053 35940153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 359449 1066764 LOH Normal High-resolution SNP genotyping 21211785 CHL1 chr3 35950003 35983768 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 3596275 3596375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3599896 3600040 Gain Normal 244K array 17666407 NOT_FOUND chr3 36014327 36014427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 36046913 36046963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 36083124 36083441 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 36209509 36209607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 36217139 36217231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 36220872 36320291 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 36258723 36271835 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 36279077 36291375 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 36282641 36291020 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 36282641 36291020 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr3 36315001 36319800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 36318274 36323972 Amplification Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr3 36327142 36327192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3637149 4044826 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LRRN1 chr3 36383926 36384005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 36397100 36564500 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 STAC chr3 36397101 36564500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAC chr3 36397101 36564500 Gain and loss Pancreatic cancer SNP array 17952125 STAC chr3 36397101 36564500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAC chr3 36423200 36456405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 STAC chr3 36440694 36440787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAC chr3 36460130 36460230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAC chr3 36489152 36489252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAC chr3 36491183 36491283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAC chr3 36500000 39300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACAA1,ACVR2B,ACVR2B-AS1,C3orf35,CSRNP1,CTDSPL,DCLK3,DLEC1,EPM2AIP1,EXOG,GOLGA4,GORASP1,ITGA9,LRRFIP2,MIR26A1,MLH1,MYD88,OXSR1,PLCD1,SCN10A,SCN11A,SCN5A,SLC22A13,SLC22A14,STAC,TRANK1,TTC21A,VILL,WDR48,XIRP1,XYLB chr3 36500000 39400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ACAA1,ACVR2B,ACVR2B-AS1,C3orf35,CCR8,CSRNP1,CTDSPL,CX3CR1,DCLK3,DLEC1,EPM2AIP1,EXOG,GOLGA4,GORASP1,ITGA9,LRRFIP2,MIR26A1,MLH1,MYD88,OXSR1,PLCD1,SCN10A,SCN11A,SCN5A,SLC22A13,SLC22A14,STAC,TRANK1,TTC21A,VILL,WDR48,XIRP1,XYLB chr3 36500000 44200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANO10,C3orf35,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR8,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CYP8B1,DCLK3,DLEC1,EIF1B,ENTPD3,ENTPD3-AS1,EPM2AIP1,EXOG,FAM198A,FLJ33065,GOLGA4,GORASP1,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KRBOX1,LRRFIP2,LYZL4,MIR138-1,MIR26A1,MLH1,MOBP,MYD88,MYRIP,NKTR,OXSR1,PLCD1,RPL14,RPSA,SCN10A,SCN11A,SCN5A,SEC22C,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,STAC,TRAK1,TRANK1,TTC21A,ULK4,VILL,VIPR1,WDR48,XIRP1,XYLB,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 36583987 36584087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAC chr3 3663140 3663262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 3667598 4731052 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ITPR1,LRRN1,SETMAR,SUMF1 chr3 36696 39690 Copy number Autism exome sequencing 22495311 NOT_FOUND chr3 36701535 36701864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 36701535 36701864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 36701535 36701865 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 36728917 36755035 Gain and loss Pancreatic cancer SNP array 17952125 DCLK3 chr3 36728925 36755154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCLK3 chr3 36728925 36755154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK3 chr3 36770406 36770506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK3 chr3 36773675 36773825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK3 chr3 36784187 36785207 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 36807013 37577002 LOH Normal High-resolution SNP genotyping 21211785 C3orf35,EPM2AIP1,GOLGA4,ITGA9,LRRFIP2,MLH1,TRANK1 chr3 36810972 36844952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 36839166 36839266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 36843314 36877415 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 TRANK1 chr3 36843315 36875378 Gain and loss Pancreatic cancer SNP array 17952125 TRANK1 chr3 36843315 36877415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRANK1 chr3 36843315 36877415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRANK1 chr3 36941164 36941264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRANK1 chr3 36948461 36948561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRANK1 chr3 36967519 37301610 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 EPM2AIP1,GOLGA4,LRRFIP2,MLH1,TRANK1 chr3 3698308 3698381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 36984686 36984811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRANK1 chr3 36984687 36984811 Gain and loss Pancreatic cancer SNP array 17952125 TRANK1 chr3 37008434 37009566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 37008434 37009572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 37009982 37067341 Deletion Colorectal cancer MLPA 17569143 EPM2AIP1,MLH1 chr3 37009982 37067341 Deletion Hereditary non-polyposis colorectal cancer MLPA and Nonfluorescent Multiplex PCR Analysis 16941473 EPM2AIP1,MLH1 chr3 37009982 37067341 Deletion Lynch syndrome 20kb PLUS PCR systems 16541406 EPM2AIP1,MLH1 chr3 37009982 37067341 Deletion Non-syndromic sensorineural hearing loss MLPA 19173287 EPM2AIP1,MLH1 chr3 37009982 37067341 Duplication Hereditary non-polyposis colorectal cancer PCR 17228328 EPM2AIP1,MLH1 chr3 37009982 37067341 Gain or loss Breast cancer - 20668451 EPM2AIP1,MLH1 chr3 37009982 37067341 Gain or loss Cancer - 20668451 EPM2AIP1,MLH1 chr3 37009982 37067341 Gain or loss Lung cancer - 20668451 EPM2AIP1,MLH1 chr3 37009982 37067341 Gain or loss Ovarian cancer - 20668451 EPM2AIP1,MLH1 chr3 37009982 37067341 Gain or loss Pancreas cancer - 20668451 EPM2AIP1,MLH1 chr3 37009982 37067341 Gain or loss Prostate cancer - 20668451 EPM2AIP1,MLH1 chr3 37009982 37067341 Genomic rearrangement Lynch syndrome MLPA 20937110 EPM2AIP1,MLH1 chr3 37009982 37067341 Loss Chordoma Array CGH 21602918 EPM2AIP1,MLH1 chr3 37009982 37067341 Rearrangement Colorectal cancer Southern blot 18708397 EPM2AIP1,MLH1 chr3 37009982 37067341 Rearrangement Endometrial cancer Southern blot 18708397 EPM2AIP1,MLH1 chr3 37009982 37067341 Rearrangement Lynch syndrome Southern blot 18708397 EPM2AIP1,MLH1 chr3 37009982 37067341 Splice Breast cancer - 20616022 EPM2AIP1,MLH1 chr3 37009983 37067341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPM2AIP1,MLH1 chr3 37009983 37067341 Gain and loss Pancreatic cancer SNP array 17952125 EPM2AIP1,MLH1 chr3 37009983 37067341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPM2AIP1,MLH1 chr3 37033015 37033481 Gain and loss Pancreatic cancer SNP array 17952125 EPM2AIP1 chr3 37049634 37049674 Amplification or deletion Cancer Array CGH 17440070 MLH1 chr3 37069501 37192832 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 LRRFIP2,MLH1 chr3 37069503 37191086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP2,MLH1 chr3 37069503 37191086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP2,MLH1 chr3 37069507 37192812 Gain and loss Pancreatic cancer SNP array 17952125 LRRFIP2,MLH1 chr3 37109628 37109729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP2 chr3 37109630 37109729 Gain and loss Pancreatic cancer SNP array 17952125 LRRFIP2 chr3 37150772 37150872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRFIP2 chr3 37156822 37156924 Gain and loss Pancreatic cancer SNP array 17952125 LRRFIP2 chr3 37156822 37156925 Gain and loss Pancreatic cancer SNP array 17952125 LRRFIP2 chr3 37156822 37156925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP2 chr3 37195660 37195760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRFIP2 chr3 37213236 37213337 Gain and loss Pancreatic cancer SNP array 17952125 LRRFIP2 chr3 37213236 37213337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRFIP2 chr3 37216136 37216168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRFIP2 chr3 37240462 37240551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 37259555 37260047 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 37259555 37260047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 37259741 37383246 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 GOLGA4 chr3 37259742 37383240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA4 chr3 37259742 37383240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA4 chr3 37259742 37383245 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA4 chr3 37265222 37416340 Loss Autism Exome sequencing and CGH 22495309 GOLGA4 chr3 37292032 37294644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GOLGA4 chr3 37292032 37294644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA4 chr3 37292188 37293093 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA4 chr3 37329370 37329470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GOLGA4 chr3 37358144 37358235 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA4 chr3 37358144 37358261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GOLGA4 chr3 37358148 37358240 Gain and loss Pancreatic cancer SNP array 17952125 GOLGA4 chr3 37366334 37366434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GOLGA4 chr3 37370000 47130000 Loss Breast cancer aCGH 21509527 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ALS2CL,ANO10,C3orf35,C3orf77,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCK,CCR1,CCR2,CCR3,CCR5,CCR8,CCR9,CCRL2,CDCP1,CLEC3B,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DLEC1,EIF1B,ENTPD3,ENTPD3-AS1,EXOG,EXOSC7,FAM198A,FLJ33065,FYCO1,GOLGA4,GORASP1,GTDC2,HHATL,HIGD1A,ITGA9,KBTBD5,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LRRC2,LTF,LYZL4,LZTFL1,MIR138-1,MIR26A1,MIR564,MOBP,MYD88,MYL3,MYRIP,NBEAL2,NKTR,NRADDP,OXSR1,PLCD1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,RPL14,RPSA,RTP3,SACM1L,SCN10A,SCN11A,SCN5A,SEC22C,SETD2,SLC22A13,SLC22A14,SLC25A38,SLC6A20,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,TCAIM,TDGF1,TGM4,TMEM158,TMEM42,TMIE,TRAK1,TTC21A,ULK4,VILL,VIPR1,WDR48,XCR1,XIRP1,XYLB,ZBTB47,ZDHHC3,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662 chr3 37375518 37375618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GOLGA4 chr3 37393401 37874100 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf35,GOLGA4,ITGA9 chr3 37415657 37451991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf35 chr3 37427735 37433113 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 37433118 37451681 Gain and loss Pancreatic cancer SNP array 17952125 C3orf35 chr3 37468817 37835941 Gain and loss Pancreatic cancer SNP array 17952125 C3orf35,ITGA9 chr3 37468817 37836285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf35,ITGA9 chr3 37468817 37836285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf35,ITGA9 chr3 37498456 37498556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA9 chr3 37500570 37952421 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTDSPL,ITGA9 chr3 37500570 37952421 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CTDSPL,ITGA9 chr3 37511872 37537705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITGA9 chr3 37557684 37557778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA9 chr3 37589647 37589709 Gain and loss Pancreatic cancer SNP array 17952125 ITGA9 chr3 37641857 37641957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA9 chr3 37737740 37756340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITGA9 chr3 37772503 37817755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITGA9 chr3 37779060 37779160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITGA9 chr3 37806487 38079228 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTDSPL,ITGA9,MIR26A1,PLCD1,VILL chr3 37876501 37877500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 37878172 38000963 Gain and loss Pancreatic cancer SNP array 17952125 CTDSPL chr3 37878673 38000964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL chr3 37878673 38000964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL chr3 37880969 38079228 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTDSPL,MIR26A1,PLCD1,VILL chr3 37888390 37888490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 37902867 37902937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 37920511 37920592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTDSPL chr3 37924833 37968862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CTDSPL chr3 37927066 38079228 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CTDSPL,MIR26A1,PLCD1,VILL chr3 37947798 37961920 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CTDSPL chr3 37953422 37961928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CTDSPL chr3 37955959 37961139 Loss Normal 244K array 17666407 CTDSPL chr3 37957108 37961932 Loss Normal Birdsuite, version 1.5.2 22087296 CTDSPL chr3 37957113 37962097 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 CTDSPL chr3 37957465 37961253 Deletion Mortal Illumina 550K array 21835882 CTDSPL chr3 37961932 37963740 Loss Normal Birdsuite, version 1.5.2 22087296 CTDSPL chr3 37963740 37969705 Loss Normal Birdsuite, version 1.5.2 22087296 CTDSPL chr3 37985893 37985982 Gain and loss Pancreatic cancer SNP array 17952125 CTDSPL chr3 37985899 37985975 Deletion Acute myeloid leukemia BAC aCGH 20962326 CTDSPL chr3 37985899 37985975 Gain and loss Pancreatic cancer SNP array 17952125 CTDSPL chr3 37985899 37985975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL chr3 37995907 38025959 Copy number Non-small cell lung cancer Real-Time PCR 20193080 CTDSPL,MIR26A1 chr3 3800000 104400000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHCHD4,CHDH,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLDND1,CLEC3B,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL6A4P1,COL7A1,COL8A1,COLQ,CPNE9,CPOX,CRELD1,CRTAP,CRYBG3,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FILIP1L,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GABRR3,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR128,GPR15,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IMPG2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LNP1,LOC100009676,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC152225,LOC201617,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NSUN3,NT5DC2,NUP210,NXPE3,OGG1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL24,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SENP7,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STT3B,STX19,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D23,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TFG,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM40,TMEM42,TMEM43,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOMM70A,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRMT10C,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB11,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860,ZPLD1 chr3 3800000 87200000 Deletion Paraganglioma Multiplex Ligation-dependent Probe Amplification 21461997 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 3800000 87200000 Deletion Pheochromocytoma Multiplex Ligation-dependent Probe Amplification 21461997 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 3800000 87200000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 3800000 87200000 Loss Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 38001001 38048500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTDSPL,MIR26A1,VILL chr3 38004554 38023683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL,MIR26A1 chr3 38004554 38023683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL,MIR26A1 chr3 38012271 38023680 Gain and loss Pancreatic cancer SNP array 17952125 CTDSPL chr3 38012938 38013038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CTDSPL chr3 38023993 38046137 Gain and loss Pancreatic cancer SNP array 17952125 CTDSPL,VILL chr3 38023993 38046158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL,VILL chr3 38023993 38046158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTDSPL,VILL chr3 38026958 38530387 LOH Normal High-resolution SNP genotyping 21211785 ACAA1,ACVR2B,ACVR2B-AS1,DLEC1,MYD88,OXSR1,PLCD1,SLC22A13,SLC22A14,VILL,XYLB chr3 38031063 38031161 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 38031063 38031162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 38031063 38031164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 3804600 3804700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 38046041 38046141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VILL chr3 38048501 38111000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLEC1,PLCD1,VILL chr3 38049596 38049696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PLCD1 chr3 38054024 38061307 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PLCD1 chr3 38055700 38139233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLEC1,PLCD1 chr3 38055700 38139233 Gain and loss Pancreatic cancer SNP array 17952125 DLEC1,PLCD1 chr3 38055700 38139233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEC1,PLCD1 chr3 38101056 38101276 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 DLEC1 chr3 38111001 38114500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLEC1 chr3 38114501 38117000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLEC1 chr3 38124501 38158500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DLEC1 chr3 38139206 38153624 Gain and loss Pancreatic cancer SNP array 17952125 DLEC1 chr3 38139211 38153619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEC1 chr3 38141787 38141889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEC1 chr3 38141789 38141889 Gain and loss Pancreatic cancer SNP array 17952125 DLEC1 chr3 38141791 38141889 Gain and loss Pancreatic cancer SNP array 17952125 DLEC1 chr3 38155008 38159516 Gain or loss Breast cancer - 20668451 DLEC1 chr3 38155008 38159516 Gain or loss Cancer - 20668451 DLEC1 chr3 38155008 38159516 Gain or loss Lung cancer - 20668451 DLEC1 chr3 38155008 38159516 Gain or loss Ovarian cancer - 20668451 DLEC1 chr3 38155008 38159516 Gain or loss Pancreas cancer - 20668451 DLEC1 chr3 38155008 38159516 Gain or loss Prostate cancer - 20668451 DLEC1 chr3 38155009 38159514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DLEC1 chr3 38155009 38159514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DLEC1 chr3 38155157 38159514 Gain and loss Pancreatic cancer SNP array 17952125 DLEC1 chr3 38155355 39502399 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACAA1,ACVR2B,ACVR2B-AS1,CCR8,CSRNP1,CX3CR1,DLEC1,EXOG,GORASP1,MYD88,OXSR1,RPSA,SCN10A,SCN11A,SCN5A,SLC22A13,SLC22A14,SLC25A38,SNORA6,SNORA62,TTC21A,WDR48,XIRP1,XYLB chr3 3816121 3864387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRN1 chr3 3816121 3864387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRN1 chr3 3816550 3864300 Gain and loss Pancreatic cancer SNP array 17952125 LRRN1 chr3 3817302 3817381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 38182030 38271979 Gain and loss Pancreatic cancer SNP array 17952125 MYD88,OXSR1 chr3 38182030 38271983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYD88,OXSR1 chr3 38182030 38271983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYD88,OXSR1 chr3 38230027 38233254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OXSR1 chr3 38231571 38231671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OXSR1 chr3 38282335 38294810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 OXSR1 chr3 38282335 38294810 Gain and loss Pancreatic cancer SNP array 17952125 OXSR1 chr3 38282335 38294810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 OXSR1 chr3 38282798 38318189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 OXSR1,SLC22A13 chr3 38289843 38289943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 OXSR1 chr3 38291001 38294000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OXSR1 chr3 38294001 38489000 Copy number Normal ReadDepth: A Parallel R Package 21305028 OXSR1,SLC22A13,SLC22A14,XYLB chr3 38318900 38319010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC22A13 chr3 38320268 38320374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 38320268 38320374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 38320270 38320374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 38322431 38335068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 38322431 38335068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 38322431 38335069 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 383303 383368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHL1 chr3 38350519 38350543 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 SLC22A14 chr3 38350561 38595911 Amplification Medulloblastoma Illumina SNP arrays 21163964 ACVR2B,ACVR2B-AS1,EXOG,SCN5A,SLC22A14,XYLB chr3 38363244 38431471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 XYLB chr3 38363244 38431471 Gain and loss Pancreatic cancer SNP array 17952125 XYLB chr3 38363244 38431471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 XYLB chr3 38387176 38681540 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ACVR2B,ACVR2B-AS1,EXOG,SCN5A,XYLB chr3 38404365 38404465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XYLB chr3 38411 1118424 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 CHL1 chr3 38429494 38429594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XYLB chr3 3844104 4483954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRN1,SETMAR,SUMF1 chr3 3844104 4483954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRN1,SETMAR,SUMF1 chr3 38470793 38509637 Gain or loss Breast cancer - 20668451 ACVR2B,ACVR2B-AS1 chr3 38470793 38509637 Gain or loss Cancer - 20668451 ACVR2B,ACVR2B-AS1 chr3 38470793 38509637 Gain or loss Lung cancer - 20668451 ACVR2B,ACVR2B-AS1 chr3 38470793 38509637 Gain or loss Ovarian cancer - 20668451 ACVR2B,ACVR2B-AS1 chr3 38470793 38509637 Gain or loss Pancreas cancer - 20668451 ACVR2B,ACVR2B-AS1 chr3 38470793 38509637 Gain or loss Prostate cancer - 20668451 ACVR2B,ACVR2B-AS1 chr3 38470794 38509637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACVR2B,ACVR2B-AS1 chr3 38470794 38509637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR2B,ACVR2B-AS1 chr3 38470814 38499868 Gain and loss Pancreatic cancer SNP array 17952125 ACVR2B,ACVR2B-AS1 chr3 3848205 3848533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LRRN1 chr3 38489001 38496500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACVR2B,ACVR2B-AS1 chr3 38512860 38558441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACVR2B,EXOG chr3 38512860 38558441 Gain and loss Pancreatic cancer SNP array 17952125 ACVR2B,EXOG chr3 38512860 38558441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR2B,EXOG chr3 38521975 38522076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACVR2B chr3 38521977 38522076 Gain and loss Pancreatic cancer SNP array 17952125 ACVR2B chr3 38529992 38534238 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ACVR2B chr3 38543351 38543796 Gain and loss Pancreatic cancer SNP array 17952125 EXOG chr3 38558001 38668000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EXOG,SCN5A chr3 38564557 38666167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOG,SCN5A chr3 38564557 38666167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOG,SCN5A chr3 38564558 38666168 Gain and loss Pancreatic cancer SNP array 17952125 EXOG,SCN5A chr3 38574745 38574845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 38574983 38575058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 38578312 38578374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 38580614 38604187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCN5A chr3 38587021 38616870 Copy number Congenital long qt syndrome References 19214780 SCN5A chr3 38587021 38616870 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCN5A chr3 38594281 38601703 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCN5A chr3 38596946 38602168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCN5A chr3 38606427 38623066 Amplification Medulloblastoma Illumina SNP arrays 21163964 SCN5A chr3 38625861 38626084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN5A chr3 38625969 38626069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN5A chr3 38628227 38628261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN5A chr3 38666010 38667589 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SCN5A chr3 38666010 38667589 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 SCN5A chr3 3869881 3903230 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRRN1 chr3 38713841 38810505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN10A chr3 38713841 38810505 Gain and loss Pancreatic cancer SNP array 17952125 SCN10A chr3 38713841 38810505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN10A chr3 38727237 39251918 LOH Normal High-resolution SNP genotyping 21211785 CSRNP1,GORASP1,SCN10A,SCN11A,TTC21A,WDR48,XIRP1 chr3 38743898 38743998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN10A chr3 38781935 38782034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN10A chr3 38784812 38784939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN10A chr3 38795819 38795919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN10A chr3 38816791 38816889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN10A chr3 38841595 38980893 Amplification Medulloblastoma Illumina SNP arrays 21163964 SCN11A chr3 38858336 38858379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 38862262 38967056 Gain and loss Pancreatic cancer SNP array 17952125 SCN11A chr3 38862264 38967056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCN11A chr3 38862264 38967056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN11A chr3 38873796 38873896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 38908752 39071102 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SCN11A chr3 38923809 38923884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCN11A chr3 38949723 38949817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SCN11A chr3 389501 390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CHL1 chr3 38986342 39780387 LOH Normal High-resolution SNP genotyping 21211785 CCR8,CSRNP1,CX3CR1,GORASP1,MOBP,RPSA,SCN11A,SLC25A38,SNORA6,SNORA62,TTC21A,WDR48,XIRP1 chr3 39001386 39002873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 39032315 39059327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 39042482 39042588 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 39042482 39042588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39052059 39052145 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 39052059 39052145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39052396 39052625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 39052396 39052625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39068510 39113163 Gain and loss Pancreatic cancer SNP array 17952125 WDR48 chr3 39068511 39113153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR48 chr3 39068511 39113153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR48 chr3 39082997 39579289 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCR8,CSRNP1,CX3CR1,GORASP1,MOBP,RPSA,SLC25A38,SNORA6,SNORA62,TTC21A,WDR48,XIRP1 chr3 39082997 39579289 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCR8,CSRNP1,CX3CR1,GORASP1,MOBP,RPSA,SLC25A38,SNORA6,SNORA62,TTC21A,WDR48,XIRP1 chr3 39095 9150490 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ARL8B,BHLHE40,C3orf32,CAV3,CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,LRRN1,MIR4790,OXTR,RAD18,SETMAR,SRGAP3,SUMF1,TRNT1 chr3 39095 95021186 Loss Oral cancer 105K CGH oligonucleotide array 21386901 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC255025,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NSUN3,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,STX19,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 39113154 39124858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR48 chr3 39113154 39124858 Gain and loss Pancreatic cancer SNP array 17952125 WDR48 chr3 39113154 39124858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR48 chr3 39114001 39124500 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDR48 chr3 39119124 39119224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR48 chr3 39124156 39155398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GORASP1,TTC21A,WDR48 chr3 39124156 39155398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GORASP1,TTC21A,WDR48 chr3 39124199 39155394 Gain and loss Pancreatic cancer SNP array 17952125 GORASP1,TTC21A,WDR48 chr3 39124501 39150500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GORASP1,TTC21A,WDR48 chr3 39124567 39124657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR48 chr3 39150501 39171500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TTC21A chr3 39158351 39170105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC21A chr3 39158351 39170105 Gain and loss Pancreatic cancer SNP array 17952125 TTC21A chr3 39158351 39170105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC21A chr3 39160830 39160930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC21A chr3 39188646 39188721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CSRNP1 chr3 39199705 39209091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39199705 39209091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39199711 39209089 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 39200501 39204500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 39204501 39210500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 39207230 39207330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 39213798 39213898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 39215563 39228967 Gain Normal Birdsuite, version 1.5.2 22087296 XIRP1 chr3 39219331 39219363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 39232131 39232228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 XIRP1 chr3 39257006 39290462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 39258316 39258405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 39266396 39266490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 3927811 4128339 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 39279988 39296531 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 39279988 39296531 Gain or loss Cancer - 20668451 NOT_FOUND chr3 39279988 39296531 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 39279988 39296531 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 39279988 39296531 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 39279988 39296531 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 39279989 39298190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39279989 39298190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39279991 39298190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 39300000 43600000 Amplification Melanoma MLPA assay 21693616 ANO10,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR8,CTNNB1,CX3CR1,CYP8B1,EIF1B,ENTPD3,ENTPD3-AS1,FAM198A,FLJ33065,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,MOBP,MYRIP,NKTR,RPL14,RPSA,SEC22C,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,TRAK1,ULK4,VIPR1,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 39300000 43600000 Amplification Melanoma Multiplex Ligation-Dependent Probe Amplification 21693616 ANO10,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR8,CTNNB1,CX3CR1,CYP8B1,EIF1B,ENTPD3,ENTPD3-AS1,FAM198A,FLJ33065,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,MOBP,MYRIP,NKTR,RPL14,RPSA,SEC22C,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,TRAK1,ULK4,VIPR1,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 39300000 43600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANO10,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR8,CTNNB1,CX3CR1,CYP8B1,EIF1B,ENTPD3,ENTPD3-AS1,FAM198A,FLJ33065,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,MOBP,MYRIP,NKTR,RPL14,RPSA,SEC22C,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,TRAK1,ULK4,VIPR1,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 39300000 43600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANO10,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR8,CTNNB1,CX3CR1,CYP8B1,EIF1B,ENTPD3,ENTPD3-AS1,FAM198A,FLJ33065,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,MOBP,MYRIP,NKTR,RPL14,RPSA,SEC22C,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,TRAK1,ULK4,VIPR1,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 39300000 43600000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ANO10,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR8,CTNNB1,CX3CR1,CYP8B1,EIF1B,ENTPD3,ENTPD3-AS1,FAM198A,FLJ33065,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,MOBP,MYRIP,NKTR,RPL14,RPSA,SEC22C,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,TRAK1,ULK4,VIPR1,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 39300000 44400000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ABHD5,ANO10,C3orf77,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR8,CTNNB1,CX3CR1,CYP8B1,EIF1B,ENTPD3,ENTPD3-AS1,FAM198A,FLJ33065,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,MIR138-1,MOBP,MYRIP,NKTR,RPL14,RPSA,SEC22C,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,TCAIM,TRAK1,ULK4,VIPR1,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 39300000 81800000 Deletion Medulloblastoma SNP arrays 21979893 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACOX2,ACTR8,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ASB14,ATRIP,ATXN7,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,CNTN3,COL7A1,CSPG5,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXW12,FEZF2,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GBE1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR27,GPR62,GPX1,GRM2,GTDC2,GXYLT2,HEMK1,HESX1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LMOD3,LOC100132146,LOC100287879,LOC100506994,LOC201617,LOC285401,LOC401074,LOC646498,LRIG1,LRRC2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MIR1226,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR3136,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4787,MIR4793,MIR5193,MIR548A2,MIR564,MIR711,MIRLET7G,MITF,MOBP,MON1A,MST1,MST1R,MUSTN1,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NKTR,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,ROBO1,ROBO2,RPL14,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SHQ1,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,STAB1,SUCLG2,SYNPR,SYNPR-AS1,TCAIM,TCTA,TDGF1,TEX264,TGM4,THOC7,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMF1,TMIE,TNNC1,TRAIP,TRAK1,TREX1,TUSC2,TWF2,UBA3,UBA7,UCN2,ULK4,UQCRC1,USP19,USP4,VIPR1,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZBTB47,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717 chr3 39300000 81800000 Loss Glioblastoma multiforme aCGH 21080181 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACOX2,ACTR8,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ASB14,ATRIP,ATXN7,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,CNTN3,COL7A1,CSPG5,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXW12,FEZF2,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GBE1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR27,GPR62,GPX1,GRM2,GTDC2,GXYLT2,HEMK1,HESX1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LMOD3,LOC100132146,LOC100287879,LOC100506994,LOC201617,LOC285401,LOC401074,LOC646498,LRIG1,LRRC2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MIR1226,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR3136,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4787,MIR4793,MIR5193,MIR548A2,MIR564,MIR711,MIRLET7G,MITF,MOBP,MON1A,MST1,MST1R,MUSTN1,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NKTR,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,ROBO1,ROBO2,RPL14,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SHQ1,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,STAB1,SUCLG2,SYNPR,SYNPR-AS1,TCAIM,TCTA,TDGF1,TEX264,TGM4,THOC7,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMF1,TMIE,TNNC1,TRAIP,TRAK1,TREX1,TUSC2,TWF2,UBA3,UBA7,UCN2,ULK4,UQCRC1,USP19,USP4,VIPR1,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZBTB47,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717 chr3 39300000 87200000 Deletion Medulloblastoma SNP arrays 21979893 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACOX2,ACTR8,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ASB14,ATRIP,ATXN7,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,CNTN3,COL7A1,CSPG5,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,EBLN2,EIF1B,EIF4E3,ELP6,ENTPD3,ENTPD3-AS1,EOGT,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXW12,FEZF2,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GBE1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR27,GPR62,GPX1,GRM2,GTDC2,GXYLT2,HEMK1,HESX1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD5,KBTBD8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LMOD3,LOC100132146,LOC100287879,LOC100506994,LOC201617,LOC285401,LOC401074,LOC440970,LOC646498,LRIG1,LRRC2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MIR1226,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR3136,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4787,MIR4793,MIR5193,MIR548A2,MIR564,MIR5688,MIR711,MIRLET7G,MITF,MOBP,MON1A,MST1,MST1R,MUSTN1,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NKTR,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL29,RPP14,RPSA,RRP9,RTP3,RYBP,SACM1L,SCAP,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SHQ1,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,STAB1,SUCLG2,SYNPR,SYNPR-AS1,TCAIM,TCTA,TDGF1,TEX264,TGM4,THOC7,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMF1,TMIE,TNNC1,TRAIP,TRAK1,TREX1,TUSC2,TWF2,UBA3,UBA7,UCN2,ULK4,UQCRC1,USP19,USP4,VGLL3,VIPR1,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZBTB47,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717 chr3 393337 901915 LOH Normal High-resolution SNP genotyping 21211785 CHL1 chr3 39346218 39351077 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 39346218 39351077 Gain or loss Cancer - 20668451 NOT_FOUND chr3 39346218 39351077 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 39346218 39351077 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 39346218 39351077 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 39346218 39351077 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 39346219 39351077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39346219 39351077 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 39346219 39351077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39357517 39357645 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 39357517 39357645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39366540 39366640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 39385650 39835564 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-404K arrays 21546498 MOBP,RPSA,SLC25A38,SNORA6,SNORA62 chr3 39399843 39413722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39399843 39413722 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 39399843 39413722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 39400000 43700000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ANO10,CCBP2,CCDC13,CCDC13-AS1,CCK,CTNNB1,CYP8B1,EIF1B,ENTPD3,ENTPD3-AS1,FAM198A,FLJ33065,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,MOBP,MYRIP,NKTR,RPL14,RPSA,SEC22C,SLC25A38,SNORA6,SNORA62,SNRK,SNRK-AS1,SS18L2,TRAK1,ULK4,VIPR1,ZBTB47,ZNF619,ZNF620,ZNF621,ZNF662 chr3 39400000 54400000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CTNNB1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,EXOSC7,FAM198A,FAM212A,FBXW12,FLJ33065,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,GTDC2,HEMK1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD5,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MOBP,MON1A,MST1,MST1R,MUSTN1,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NKTR,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL14,RPL29,RPSA,RRP9,RTP3,SACM1L,SCAP,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPCS1,SPINK8,SS18L2,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TRAK1,TREX1,TUSC2,TWF2,UBA7,UCN2,ULK4,UQCRC1,USP19,USP4,VIPR1,VPRBP,WDR6,WDR82,XCR1,ZBTB47,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662 chr3 39400000 63700000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACOX2,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ASB14,ATRIP,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf45,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CTNNB1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM208A,FAM212A,FAM3D,FBXW12,FEZF2,FHIT,FLJ33065,FLJ39534,FLNB,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,GTDC2,HEMK1,HESX1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD5,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC100506994,LOC285401,LOC646498,LRRC2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR3938,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MOBP,MON1A,MST1,MST1R,MUSTN1,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NKTR,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL14,RPL29,RPP14,RPSA,RRP9,RTP3,SACM1L,SCAP,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,STAB1,SYNPR,SYNPR-AS1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TRAK1,TREX1,TUSC2,TWF2,UBA7,UCN2,ULK4,UQCRC1,USP19,USP4,VIPR1,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZBTB47,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662 chr3 39400000 63700000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACOX2,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ASB14,ATRIP,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf45,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CTNNB1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,EIF1B,ELP6,ENTPD3,ENTPD3-AS1,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM208A,FAM212A,FAM3D,FBXW12,FEZF2,FHIT,FLJ33065,FLJ39534,FLNB,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,GTDC2,HEMK1,HESX1,HHATL,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD5,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC100506994,LOC285401,LOC646498,LRRC2,LRTM1,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR3938,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MOBP,MON1A,MST1,MST1R,MUSTN1,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NKTR,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL14,RPL29,RPP14,RPSA,RRP9,RTP3,SACM1L,SCAP,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORA6,SNORA62,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SS18L2,STAB1,SYNPR,SYNPR-AS1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TRAK1,TREX1,TUSC2,TWF2,UBA7,UCN2,ULK4,UQCRC1,USP19,USP4,VIPR1,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZBTB47,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662 chr3 39423208 39429034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC25A38 chr3 39423208 39429034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A38 chr3 39423215 39428942 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A38 chr3 3942451 4011148 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 39424884 39425034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A38 chr3 39424886 39425034 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A38 chr3 39427549 39427701 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A38 chr3 39427549 39427701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A38 chr3 39427549 39427702 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A38 chr3 39484074 39532498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOBP chr3 39484074 39542105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MOBP chr3 39484074 39542105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MOBP chr3 39484175 39532496 Gain and loss Pancreatic cancer SNP array 17952125 MOBP chr3 39529870 40874546 LOH Normal High-resolution SNP genotyping 21211785 EIF1B,ENTPD3,ENTPD3-AS1,FLJ33065,MOBP,MYRIP,RPL14,ZNF619,ZNF620,ZNF621 chr3 39565247 40508675 LOH Normal High-resolution SNP genotyping 21211785 EIF1B,ENTPD3,ENTPD3-AS1,FLJ33065,MOBP,MYRIP,RPL14 chr3 39605895 39605970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 39631965 39632065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 39680713 40461474 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EIF1B,ENTPD3,ENTPD3-AS1,FLJ33065,MYRIP chr3 39732968 39741968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 39824459 39824583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 39826156 40276808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ33065,MYRIP chr3 39826156 40276808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ33065,MYRIP chr3 39826306 40276815 Deletion Intellectual disability 100k SNP Array 21811512 FLJ33065,MYRIP chr3 3987662 4002766 Loss Autism - 20841430 NOT_FOUND chr3 39884752 39918165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MYRIP chr3 39900642 39900742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYRIP chr3 39917312 40276460 Gain and loss Pancreatic cancer SNP array 17952125 FLJ33065,MYRIP chr3 39933290 39933390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYRIP chr3 39983545 40012664 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MYRIP chr3 39986620 39986761 Gain and loss Pancreatic cancer SNP array 17952125 MYRIP chr3 39986620 39986761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYRIP chr3 39986620 39986763 Gain and loss Pancreatic cancer SNP array 17952125 MYRIP chr3 4000000 8700000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 ARL8B,BHLHE40,C3orf32,EDEM1,EGOT,GRM7,ITPR1,LINC00312,LMCD1,LOC100288428,LOC100507582,MIR4790,SETMAR,SUMF1 chr3 40007368 40007461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYRIP chr3 40065776 40065865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYRIP chr3 40099572 40099672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MYRIP chr3 40107663 40107828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MYRIP chr3 4016396 15387250 Gain Prostate cancer Array CGH 18632612 ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,COL6A4P1,CPNE9,CRELD1,EDEM1,EGOT,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC401052,LOC440944,LSM3,MIR4790,MIR885,MKRN2,MRPS25,MTMR14,NR2C2,NUP210,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SETMAR,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC,ZFYVE20 chr3 40180358 40994409 LOH Normal High-resolution SNP genotyping 21211785 EIF1B,ENTPD3,ENTPD3-AS1,FLJ33065,MYRIP,RPL14,ZNF619,ZNF620,ZNF621 chr3 40180358 41039590 LOH Normal High-resolution SNP genotyping 21211785 EIF1B,ENTPD3,ENTPD3-AS1,FLJ33065,MYRIP,RPL14,ZNF619,ZNF620,ZNF621 chr3 40194312 40856401 LOH Normal High-resolution SNP genotyping 21211785 EIF1B,ENTPD3,ENTPD3-AS1,FLJ33065,MYRIP,RPL14,ZNF619,ZNF620,ZNF621 chr3 40222421 40222521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ33065,MYRIP chr3 40225500 40225797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ33065,MYRIP chr3 40225500 40225799 Gain and loss Pancreatic cancer SNP array 17952125 FLJ33065,MYRIP chr3 40241460 40241619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ33065,MYRIP chr3 40241608 40241684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ33065,MYRIP chr3 40241642 40241739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLJ33065,MYRIP chr3 40255103 40255236 Gain and loss Pancreatic cancer SNP array 17952125 FLJ33065,MYRIP chr3 40255103 40255236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ33065,MYRIP chr3 40255106 40255235 Gain and loss Pancreatic cancer SNP array 17952125 FLJ33065,MYRIP chr3 40279808 40324710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLJ33065,MYRIP chr3 40326177 40328919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ33065 chr3 40326177 40328919 Gain and loss Pancreatic cancer SNP array 17952125 FLJ33065 chr3 40326177 40328919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ33065 chr3 40393199 40393299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 4039801 4046500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 40403689 40445113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTPD3,ENTPD3-AS1 chr3 40403689 40445113 Gain and loss Pancreatic cancer SNP array 17952125 ENTPD3,ENTPD3-AS1 chr3 40403689 40445113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTPD3,ENTPD3-AS1 chr3 40417934 40418059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 4041925 4044555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 4046575 4046675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 40469069 40581802 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 ENTPD3,ENTPD3-AS1,RPL14,ZNF619,ZNF620,ZNF621 chr3 40473834 40478862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTPD3-AS1 chr3 40473834 40478862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTPD3-AS1 chr3 40493641 40504881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENTPD3-AS1,RPL14 chr3 40493641 40504881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENTPD3-AS1,RPL14 chr3 40498432 40504736 Gain and loss Pancreatic cancer SNP array 17952125 RPL14 chr3 40515386 40515498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 40515387 40515498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 40515412 40515498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 40522534 40534042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF619 chr3 40522534 40534042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF619 chr3 40522535 40533896 Gain and loss Pancreatic cancer SNP array 17952125 ZNF619 chr3 40541373 40554818 Gain and loss Pancreatic cancer SNP array 17952125 ZNF620 chr3 40541373 40556047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF620 chr3 40541373 40556047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF620 chr3 4055410 4269670 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 4055896 4056338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 406101 406171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHL1 chr3 40631801 41188400 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 40633107 40665485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 4063576 4076356 Loss Autism LR 20531469 NOT_FOUND chr3 40679417 40679491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 4069293 4236304 Loss Autism LR 20531469 NOT_FOUND chr3 40714716 41155684 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 40714716 42727876 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCK,CTNNB1,KBTBD5,LYZL4,NKTR,SEC22C,SS18L2,TRAK1,ULK4,VIPR1,ZBTB47 chr3 4071644 4142289 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 40727001 40731300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 40778040 40778294 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 40791960 40792060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 40805128 40839137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 40809023 40809123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 4083533 10770979 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-411K arrays 21546498 ARL8B,ARPC4,ARPC4-TTLL3,ATP2B2,BHLHE40,BRK1,BRPF1,C3orf24,C3orf32,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EDEM1,EGOT,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,GRM7,IL17RC,IL17RE,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LMCD1,LOC100288428,LOC100507582,LOC401052,LOC440944,MIR4790,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SETMAR,SRGAP3,SUMF1,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 40838433 40838528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 40878510 44709540 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ABHD5,ANO10,C3orf77,CCBP2,CCDC13,CCDC13-AS1,CCK,CTNNB1,CYP8B1,FAM198A,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,MIR138-1,NKTR,SEC22C,SNRK,SNRK-AS1,SS18L2,TCAIM,TRAK1,ULK4,VIPR1,ZBTB47,ZNF167,ZNF197,ZNF35,ZNF445,ZNF660,ZNF662 chr3 40910054 40910154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 40913609 40946382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 4096223 4186184 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 4096223 4188337 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 4096223 4188964 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 4096223 4197568 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 4096223 4198269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 4096223 4205372 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 4096223 4205503 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 4096223 4209557 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 41015371 41721826 LOH Normal High-resolution SNP genotyping 21211785 CTNNB1,ULK4 chr3 41019231 41019325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 41053242 41053342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 41069604 41069694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 41095429 41095529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 41157008 42204471 LOH Normal High-resolution SNP genotyping 21211785 CTNNB1,TRAK1,ULK4 chr3 41200000 45300000 Deletion abnormal development HR-CGH, Array-CGH 18461090 ABHD5,ANO10,C3orf77,CCBP2,CCDC13,CCDC13-AS1,CCK,CDCP1,CLEC3B,CTNNB1,CYP8B1,EXOSC7,FAM198A,GTDC2,HHATL,HIGD1A,KBTBD5,KIAA1143,KIF15,KRBOX1,LYZL4,MIR138-1,MIR564,NKTR,SEC22C,SNRK,SNRK-AS1,SS18L2,TCAIM,TGM4,TMEM158,TMEM42,TRAK1,ULK4,VIPR1,ZBTB47,ZDHHC3,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF660,ZNF662 chr3 41201603 41242526 Amplification or deletion Cancer Array CGH 17440070 CTNNB1 chr3 41203017 41229615 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 41211404 41256943 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 CTNNB1 chr3 41211404 41256943 Copy number Lung cancer - 20668451 CTNNB1 chr3 41211404 41256943 Gain or loss Breast cancer - 20668451 CTNNB1 chr3 41211404 41256943 Gain or loss Cancer - 20668451 CTNNB1 chr3 41211404 41256943 Gain or loss Lung cancer - 20668451 CTNNB1 chr3 41211404 41256943 Gain or loss Ovarian cancer - 20668451 CTNNB1 chr3 41211404 41256943 Gain or loss Pancreas cancer - 20668451 CTNNB1 chr3 41211404 41256943 Gain or loss Prostate cancer - 20668451 CTNNB1 chr3 41211405 41256943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTNNB1 chr3 41211405 41256943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNB1 chr3 41216000 41256938 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CTNNB1 chr3 41216004 41256938 Gain and loss Pancreatic cancer SNP array 17952125 CTNNB1 chr3 41218964 41229615 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 41218964 41229650 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 41230228 41597107 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CTNNB1,ULK4 chr3 41242392 41242623 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CTNNB1 chr3 41263097 41978664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTNNB1,ULK4 chr3 41263102 41770902 Gain and loss Pancreatic cancer SNP array 17952125 CTNNB1,ULK4 chr3 41263102 41971255 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CTNNB1,ULK4 chr3 41288354 41288443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 41308704 41353727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ULK4 chr3 41311685 41312233 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ULK4 chr3 41314156 41748757 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ULK4 chr3 41341639 41826208 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ULK4 chr3 41365143 42094483 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ULK4 chr3 4136558 4136658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 41382406 41382506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 41389085 41389155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 41391834 41393425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ULK4 chr3 41461388 41461452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 41543434 41544910 Loss Normal 244K array 17666407 ULK4 chr3 41562787 41562825 Loss Normal 244K array 17666407 ULK4 chr3 41564001 41565500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ULK4 chr3 4156405 4291641 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 4158412 4160026 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 4158926 4395357 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SETMAR chr3 41665751 41665832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ULK4 chr3 41690154 41690250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 4170683 5012635 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EGOT,ITPR1,LOC100507582,SETMAR,SUMF1 chr3 41755151 41763499 Loss Normal Birdsuite, version 1.5.2 22087296 ULK4 chr3 41759184 41759240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 41760096 41760196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 41783111 41783415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ULK4 chr3 41783184 41783415 Gain and loss Pancreatic cancer SNP array 17952125 ULK4 chr3 41783184 41783415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ULK4 chr3 41791501 41798400 Deletion Glioma mate-paired sequence 20126413 ULK4 chr3 41793065 41796497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ULK4 chr3 4182784 4210715 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 41866 127592 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr3 41885496 41885591 Gain and loss Pancreatic cancer SNP array 17952125 ULK4 chr3 41898646 41978465 Gain and loss Pancreatic cancer SNP array 17952125 ULK4 chr3 41904897 41949787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ULK4 chr3 41915607 41915749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ULK4 chr3 41915666 41915749 Gain and loss Pancreatic cancer SNP array 17952125 ULK4 chr3 41944176 41944240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 41954468 41954568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ULK4 chr3 4199731 4236304 Deletion Autism quantitative PCR 19404257 NOT_FOUND chr3 42007000 46341000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ABHD5,ANO10,C3orf77,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR1,CCR3,CCR9,CDCP1,CLEC3B,CXCR6,CYP8B1,EXOSC7,FAM198A,FYCO1,GTDC2,HHATL,HIGD1A,KBTBD5,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LYZL4,LZTFL1,MIR138-1,MIR564,NKTR,SACM1L,SEC22C,SLC6A20,SNRK,SNRK-AS1,SS18L2,TCAIM,TGM4,TMEM158,TMEM42,TRAK1,VIPR1,XCR1,ZBTB47,ZDHHC3,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF660,ZNF662 chr3 42048704 46948704 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 ABHD5,ALS2CL,ANO10,C3orf77,CCBP2,CCDC13,CCDC13-AS1,CCK,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDCP1,CLEC3B,CXCR6,CYP8B1,EXOSC7,FAM198A,FYCO1,GTDC2,HHATL,HIGD1A,KBTBD5,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LRRC2,LTF,LYZL4,LZTFL1,MIR138-1,MIR564,MYL3,NKTR,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,RTP3,SACM1L,SEC22C,SLC6A20,SNRK,SNRK-AS1,SS18L2,TCAIM,TDGF1,TGM4,TMEM158,TMEM42,TMIE,TRAK1,VIPR1,XCR1,ZBTB47,ZDHHC3,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF660,ZNF662 chr3 4205151 4205371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 4207107 4207209 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 42104857 42108196 Gain Normal 244K array 17666407 NOT_FOUND chr3 42107749 42242272 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 TRAK1 chr3 42107750 42242264 Gain and loss Pancreatic cancer SNP array 17952125 TRAK1 chr3 42107750 42242385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAK1 chr3 42107750 42242385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAK1 chr3 4212331 4257186 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 42178883 42178983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAK1 chr3 42238336 42238461 Gain and loss Pancreatic cancer SNP array 17952125 TRAK1 chr3 42238336 42238461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAK1 chr3 42238336 42238464 Gain and loss Pancreatic cancer SNP array 17952125 TRAK1 chr3 422475 422575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHL1 chr3 42274321 42282666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42274321 42282666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42274322 42281399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 42292130 42292219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 42305185 43829172 LOH Normal High-resolution SNP genotyping 21211785 ABHD5,ANO10,CCBP2,CCDC13,CCDC13-AS1,CCK,CYP8B1,FAM198A,GTDC2,HHATL,HIGD1A,KBTBD5,KRBOX1,LYZL4,NKTR,SEC22C,SNRK,SNRK-AS1,SS18L2,VIPR1,ZBTB47,ZNF662 chr3 42335110 42727876 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KBTBD5,LYZL4,NKTR,SEC22C,SS18L2,VIPR1,ZBTB47 chr3 42344333 42344433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 42413581 42427069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42413581 42427069 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 42413581 42427069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42444214 42444308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LYZL4 chr3 42485639 42485739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 42502959 42503059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 42505795 42554064 Gain and loss Pancreatic cancer SNP array 17952125 VIPR1 chr3 42515501 42562000 Copy number Normal ReadDepth: A Parallel R Package 21305028 VIPR1 chr3 42519121 42554064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 VIPR1 chr3 42519121 42554064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 VIPR1 chr3 42527863 42527963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 42564467 42598524 Gain and loss Pancreatic cancer SNP array 17952125 SEC22C,VIPR1 chr3 42564476 42617576 Copy number Gastric cancer Human cDNA microarrays 17229543 SEC22C,VIPR1 chr3 42564479 42598432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC22C,VIPR1 chr3 42564479 42598432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC22C,VIPR1 chr3 42564861 42564920 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 VIPR1 chr3 42607296 42611484 Gain and loss Pancreatic cancer SNP array 17952125 SEC22C chr3 42607301 42611494 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 SEC22C chr3 42607302 42611494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEC22C chr3 42607302 42611494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC22C chr3 42615015 42615652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SEC22C chr3 42617151 42665236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NKTR,SEC22C,SS18L2 chr3 42617151 42665236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NKTR,SEC22C,SS18L2 chr3 42617182 42665229 Gain and loss Pancreatic cancer SNP array 17952125 NKTR,SEC22C,SS18L2 chr3 42646613 42677631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NKTR chr3 42666501 42684000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NKTR chr3 42674852 42684076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NKTR chr3 42674852 42684076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NKTR chr3 42675878 42684076 Gain and loss Pancreatic cancer SNP array 17952125 NKTR chr3 42684001 42713500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NKTR,ZBTB47 chr3 42692688 42692987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42692695 42692987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 42692695 42692987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42702015 42708942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZBTB47 chr3 42702015 42708942 Gain and loss Pancreatic cancer SNP array 17952125 ZBTB47 chr3 42702015 42708942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZBTB47 chr3 42709159 42718017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42709159 42718017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42709163 42719130 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 42713501 42730000 Copy number Normal ReadDepth: A Parallel R Package 21305028 KBTBD5 chr3 42724879 42789749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC13,CCDC13-AS1,HHATL,KBTBD5 chr3 42724879 42789749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC13,CCDC13-AS1,HHATL,KBTBD5 chr3 42724884 42789748 Gain and loss Pancreatic cancer SNP array 17952125 CCDC13,CCDC13-AS1,HHATL,KBTBD5 chr3 4273520 4284808 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 42748483 42780442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC13,CCDC13-AS1 chr3 42800797 42820986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC13 chr3 42800797 42820986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC13 chr3 42800799 42820997 Gain and loss Pancreatic cancer SNP array 17952125 CCDC13 chr3 42811501 42817800 Deletion Glioma mate-paired sequence 20126413 CCDC13 chr3 42812666 53827245 Gain Prostate cancer Array CGH 18632612 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CAMKV,CAMP,CCBP2,CCDC12,CCDC13,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM198A,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,GTDC2,HEMK1,HIGD1A,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660,ZNF662 chr3 42813361 42815814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC13 chr3 42821249 42916828 Copy number Lung cancer - 20668451 CCBP2,CYP8B1,HIGD1A chr3 42821249 42916828 Gain or loss Breast cancer - 20668451 CCBP2,CYP8B1,HIGD1A chr3 42821249 42916828 Gain or loss Cancer - 20668451 CCBP2,CYP8B1,HIGD1A chr3 42821249 42916828 Gain or loss Lung cancer - 20668451 CCBP2,CYP8B1,HIGD1A chr3 42821249 42916828 Gain or loss Ovarian cancer - 20668451 CCBP2,CYP8B1,HIGD1A chr3 42821249 42916828 Gain or loss Pancreas cancer - 20668451 CCBP2,CYP8B1,HIGD1A chr3 42821249 42916828 Gain or loss Prostate cancer - 20668451 CCBP2,CYP8B1,HIGD1A chr3 42836115 42883778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCBP2,HIGD1A chr3 42836115 42883778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCBP2,HIGD1A chr3 42836124 42883778 Gain and loss Pancreatic cancer SNP array 17952125 CCBP2,HIGD1A chr3 42868230 42868987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCBP2 chr3 42888688 42892661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCBP2 chr3 42888688 42892661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCBP2 chr3 42890807 42892312 Gain and loss Pancreatic cancer SNP array 17952125 CCBP2 chr3 42898220 42898421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBP2 chr3 42898412 42898648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCBP2 chr3 42899794 43805866 LOH Normal High-resolution SNP genotyping 21211785 ABHD5,ANO10,CCBP2,CYP8B1,FAM198A,GTDC2,KRBOX1,SNRK,SNRK-AS1,ZNF662 chr3 42901227 42945601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCBP2,CYP8B1 chr3 42922405 42934136 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 42922406 42933945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 42922406 42933958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42922406 42933958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 42935273 42935368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 42952856 42959283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF662 chr3 42979905 42979959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KRBOX1 chr3 42995833 43076707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM198A chr3 42995833 43076707 Gain and loss Pancreatic cancer SNP array 17952125 FAM198A chr3 42995833 43076707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM198A chr3 43004401 43008300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 43006097 43006424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 43023419 43023485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM198A chr3 43028927 43029320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM198A chr3 43033724 43033874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM198A chr3 43058631 43058731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM198A chr3 43095735 43122569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM198A,GTDC2 chr3 43095735 43122569 Gain and loss Pancreatic cancer SNP array 17952125 FAM198A,GTDC2 chr3 43095735 43122569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM198A,GTDC2 chr3 43151401 43196258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 4319934 4853655 Loss Autism 1M Ailent CGH whole-genome array 21865298 EGOT,ITPR1,SETMAR,SUMF1 chr3 4319999 4333949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 4319999 4333949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 4320062 4333930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 43202483 43236664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 43227237 43227367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 43246013 43246080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 43246013 43246080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 43246083 43246148 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 43246083 43246148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 4326301 5793700 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARL8B,BHLHE40,EDEM1,EGOT,ITPR1,LOC100507582,MIR4790,SETMAR,SUMF1 chr3 4330000 11524200 Gain Prostate cancer Array CGH 18632612 ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,C3orf24,C3orf32,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EDEM1,EGOT,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,GRM7,HRH1,IL17RC,IL17RE,IRAK2,ITPR1,JAGN1,LHFPL4,LINC00312,LINC00606,LMCD1,LOC100288428,LOC100507582,LOC401052,LOC440944,MIR4790,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SETMAR,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,SUMF1,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 43303008 43367634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNRK chr3 43303008 43367634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRK chr3 43316246 43367634 Gain and loss Pancreatic cancer SNP array 17952125 SNRK chr3 43331447 43331749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRK chr3 43331447 43331751 Gain and loss Pancreatic cancer SNP array 17952125 SNRK chr3 43331447 43331751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNRK chr3 43359167 43359256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SNRK chr3 43382344 43638564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANO10,SNRK,SNRK-AS1 chr3 43382344 43638564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANO10,SNRK,SNRK-AS1 chr3 43382834 43638564 Gain and loss Pancreatic cancer SNP array 17952125 ANO10,SNRK,SNRK-AS1 chr3 43406150 43406188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 4344036 4424714 Allelic imbalance Normal High-resolution SNP genotyping 21211785 SETMAR,SUMF1 chr3 43449454 43449511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO10 chr3 43488973 43489090 Gain and loss Pancreatic cancer SNP array 17952125 ANO10 chr3 43488977 43489088 Gain and loss Pancreatic cancer SNP array 17952125 ANO10 chr3 43519850 43519950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO10 chr3 43560315 43569456 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ANO10 chr3 43566589 43566689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANO10 chr3 43586010 43586720 Gain and loss Pancreatic cancer SNP array 17952125 ANO10 chr3 43587299 43587682 Gain and loss Pancreatic cancer SNP array 17952125 ANO10 chr3 43600000 44400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD5,ANO10,C3orf77,MIR138-1,TCAIM chr3 43600000 51400000 Gain Breast cancer - 16397240 ABHD5,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,DOCK3,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43600000 51400000 Loss Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ABHD5,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,DOCK3,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43600000 51400000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ABHD5,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,DOCK3,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43600000 54400000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43600000 54400000 Gain Breast cancer - 16397240 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43600000 54400000 Loss Breast cancer array-CGH 22032731 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43600000 54400000 Loss Cancer array-based techniques 21183584 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43600000 54400000 Loss Non-small cell lung cancer In situ minichips 20864512 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANO10,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43613195 43613933 Gain and loss Pancreatic cancer SNP array 17952125 ANO10 chr3 43676629 43676923 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 43684522 43684983 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 4368549 25884329 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,COL6A4P1,COLQ,CPNE9,CRELD1,DAZL,DPH3,EAF1,EDEM1,EFHB,EGOT,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC339862,LOC401052,LOC440944,LOC644990,LSM3,METTL6,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OGG1,OXNAD1,OXSM,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RFTN1,RPL15,RPL32,RPUSD3,SATB1,SEC13,SETD5,SGOL1,SGOL1-AS1,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TOP2B,TPRXL,TSEN2,TTLL3,UBE2E1,UBE2E2,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZFYVE20,ZNF385D chr3 43691966 43692066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 43696475 43696822 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 43700000 54400000 Amplification Colorectal cancer PCR 16912164 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43700000 54400000 Copy number Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43700000 54400000 Deletion Non-small cell lung cancer FISH 19010865 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43700000 54400000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43700000 58600000 Copy number Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACOX2,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ASB14,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC66,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,ELP6,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM107A,FAM116A,FAM208A,FAM212A,FBXW12,FLJ39534,FLNB,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HESX1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LRTM1,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR138-1,MIR191,MIR3938,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RPP14,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORD19,SNORD19B,SNORD69,SPATA12,SPCS1,SPINK8,STAB1,TCAIM,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 43707379 43735295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD5 chr3 43707379 43735295 Gain and loss Pancreatic cancer SNP array 17952125 ABHD5 chr3 43707379 43735295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD5 chr3 4373608 4375327 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 43736240 43736340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABHD5 chr3 43737434 43737466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ABHD5 chr3 4377830 4483954 Gain and loss Pancreatic cancer SNP array 17952125 SUMF1 chr3 43830608 43859939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 43912363 43912463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 43914820 43914885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 43947639 43947639 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 43959657 43959747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 43991478 43991567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 43999552 43999637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 44011501 44016500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 44022745 44057203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 44036753 44036793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 44081027 45584479 LOH Normal High-resolution SNP genotyping 21211785 C3orf77,CDCP1,CLEC3B,EXOSC7,KIAA1143,KIF15,LARS2,LARS2-AS1,MIR138-1,MIR564,TCAIM,TGM4,TMEM158,TMEM42,ZDHHC3,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF660 chr3 44087610 44087679 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 44087610 44087679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44100000 44200000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 MIR138-1 chr3 44100000 44200000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 MIR138-1 chr3 44130708 44130806 Deletion Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr3 44130708 44130806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 44130708 44130806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44179616 44182080 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 44192178 44223929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 44200000 50600000 Amplification Acute myeloid leukemia Array-based CGH 17268525 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44200000 50600000 Copy number Effusion lymphoma Real-time QPCR 18079361 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44200000 50600000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44200000 50600000 Gain Gastric cancer Array CGH 16891809 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44200000 50600000 Loss and deletion Multiple myeloma Array CGH 16616336 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44200000 50600000 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44200000 50600000 Loss Lung cancer array CGH 17297452 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44200000 52300000 Amplification Colorectal cancer PCR 16912164 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,DOCK3,DUSP7,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PARP3,PCBP4,PFKFB4,PLXNB1,POC1A,PPM1M,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RHOA,RNF123,RPL29,RRP9,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCAIM,TCTA,TDGF1,TEX264,TGM4,TLR9,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44201824 44204031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 44258382 44261091 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 44258382 44261091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44277839 44277915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 44342294 44342359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf77 chr3 44354615 44425941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf77,TCAIM chr3 44354615 44425941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf77,TCAIM chr3 44355272 44425941 Gain and loss Pancreatic cancer SNP array 17952125 C3orf77,TCAIM chr3 44382358 44382458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TCAIM chr3 44426001 44437500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TCAIM chr3 44456266 44472885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44456266 44472885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44460000 49640000 Loss Acute lymphoblastic leukemia - 21339820 ALS2CL,AMT,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FBXW12,FLJ39534,FYCO1,GPX1,IMPDH2,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR564,MIR711,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RHOA,RTP3,SACM1L,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SLC6A20,SMARCC1,SPINK8,TCTA,TDGF1,TGM4,TMA7,TMEM158,TMEM42,TMEM89,TMIE,TREX1,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44462437 44472196 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 44476245 50626214 Loss Neuroblastoma aCGH 20406844 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF445,ZNF501,ZNF502,ZNF589,ZNF660 chr3 44515711 44700822 Gain and loss Pancreatic cancer SNP array 17952125 ZNF167,ZNF197,ZNF35,ZNF445,ZNF660 chr3 44516023 44527113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF445 chr3 44541237 44542310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44541240 44542301 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 4456260 4456335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUMF1 chr3 44571717 44599975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF167 chr3 44571717 44599975 Gain and loss Pancreatic cancer SNP array 17952125 ZNF167 chr3 44571717 44599975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF167 chr3 44586503 44617148 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF167 chr3 44594918 44597510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF167 chr3 44596931 44873764 Copy number Lung cancer paired-end sequencing 18438408 KIAA1143,KIF15,ZNF167,ZNF197,ZNF35,ZNF501,ZNF502,ZNF660 chr3 44601460 44612561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF167 chr3 44601460 44612561 Gain and loss Pancreatic cancer SNP array 17952125 ZNF167 chr3 44601460 44612561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF167 chr3 4461303 9602027 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARL8B,BHLHE40,C3orf32,CAV3,EDEM1,EGOT,GRM7,ITPR1,LHFPL4,LINC00312,LMCD1,LOC100288428,LOC100507582,LOC440944,MIR4790,OXTR,RAD18,SETD5,SRGAP3,SUMF1,THUMPD3 chr3 44630802 44664967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF660 chr3 44630802 44664967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF660 chr3 44645484 44661760 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 44665237 44677286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF197 chr3 44665237 44677286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF197 chr3 44665259 44677279 Gain and loss Pancreatic cancer SNP array 17952125 ZNF197 chr3 4466655 4466755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUMF1 chr3 44685985 66727395 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD6,ACOX2,ACTR8,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ASB14,ATRIP,ATXN7,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC66,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,ELP6,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM107A,FAM116A,FAM208A,FAM212A,FAM3D,FBXW12,FEZF2,FHIT,FLJ39534,FLNB,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HESX1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC100287879,LOC100506994,LOC285401,LOC646498,LRIG1,LRRC2,LRTM1,LTF,LUST,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR191,MIR3938,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR548A2,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RPP14,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC25A26,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORD19,SNORD19B,SNORD69,SNTN,SPATA12,SPCS1,SPINK8,STAB1,SYNPR,SYNPR-AS1,TCTA,TDGF1,TEX264,TGM4,THOC7,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZDHHC3,ZMYND10,ZNF197,ZNF35,ZNF501,ZNF502,ZNF589 chr3 44700000 51400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,DOCK3,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF35,ZNF501,ZNF502,ZNF589 chr3 44700000 51400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,DOCK3,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF35,ZNF501,ZNF502,ZNF589 chr3 44700000 51400000 Loss Breast cancer aCGH 21045282 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,DOCK3,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF35,ZNF501,ZNF502,ZNF589 chr3 44700000 51400000 Loss Urothelial cell carcinoma FISH 18451213 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DHX30,DOCK3,ELP6,EXOSC7,FAM212A,FBXW12,FLJ39534,FYCO1,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LUST,LZTFL1,MAP4,MAPKAPK3,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,RTP3,SACM1L,SCAP,SEMA3B,SEMA3F,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SMARCC1,SPINK8,TCTA,TDGF1,TGM4,TMA7,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZDHHC3,ZMYND10,ZNF35,ZNF501,ZNF502,ZNF589 chr3 44700000 58500000 Deletion Neuroblastoma Affymetrix 10K SNP array 17327916 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD6,ACOX2,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ASB14,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC66,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,ELP6,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM116A,FAM208A,FAM212A,FBXW12,FLJ39534,FLNB,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HESX1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LRTM1,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR191,MIR3938,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RPP14,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORD19,SNORD19B,SNORD69,SPATA12,SPCS1,SPINK8,STAB1,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZDHHC3,ZMYND10,ZNF35,ZNF501,ZNF502,ZNF589 chr3 44714152 44714212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 44729142 44740325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44729142 44740325 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 44729142 44740325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44746128 44753579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44746128 44753579 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 44746128 44753579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 44746983 44747083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 44764613 44764703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF502 chr3 44769533 44778158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF501 chr3 44769533 44778158 Gain and loss Pancreatic cancer SNP array 17952125 ZNF501 chr3 44769533 44778158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF501 chr3 44778289 44869745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1143,KIF15,ZNF501 chr3 44778289 44869745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1143,KIF15,ZNF501 chr3 44778289 44869747 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1143,KIF15,ZNF501 chr3 44813959 44848832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF15 chr3 44822679 44822779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF15 chr3 44853184 44897823 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIF15 chr3 44876434 45000639 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 KIF15,MIR564,TGM4,TMEM42,ZDHHC3 chr3 44878384 44878477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF15 chr3 44878412 44882156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF15 chr3 44878412 44882156 Gain and loss Pancreatic cancer SNP array 17952125 KIF15 chr3 44878412 44882156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF15 chr3 44888721 44931090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF15,MIR564,TGM4,TMEM42 chr3 44888721 44931090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF15,MIR564,TGM4,TMEM42 chr3 44889198 62668114 Copy number Lung cancer paired-end sequencing 18438408 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD6,ACOX2,ACTR8,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ASB14,ATRIP,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf45,C3orf62,C3orf67,C3orf71,C3orf74,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC66,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHDH,CISH,CLEC3B,COL7A1,CSPG5,CXCR6,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,ELP6,ERC2,ERC2-IT1,ESRG,EXOSC7,FAM107A,FAM116A,FAM208A,FAM212A,FAM3D,FBXW12,FEZF2,FHIT,FLJ39534,FLNB,FYCO1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HESX1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KCTD6,KIF15,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LOC100506994,LOC646498,LRRC2,LRTM1,LTF,LUST,LZTFL1,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR191,MIR3938,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR564,MIR711,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRKCD,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RPL29,RPP14,RRP9,RTP3,SACM1L,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SLC25A20,SLC26A6,SLC38A3,SLC6A20,SLMAP,SMARCC1,SNORD19,SNORD19B,SNORD69,SPATA12,SPCS1,SPINK8,STAB1,TCTA,TDGF1,TEX264,TGM4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM42,TMEM89,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,WNT5A,XCR1,ZDHHC3,ZMYND10,ZNF589 chr3 44889830 44890348 Gain and loss Pancreatic cancer SNP array 17952125 KIF15 chr3 44889863 44890354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF15 chr3 44891107 44931090 Gain and loss Pancreatic cancer SNP array 17952125 KIF15,MIR564,TGM4,TMEM42 chr3 44934497 44935005 Gain and loss Pancreatic cancer SNP array 17952125 TGM4 chr3 44934497 44935005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM4 chr3 44941663 44992618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TGM4,ZDHHC3 chr3 44941663 44992618 Gain and loss Pancreatic cancer SNP array 17952125 TGM4,ZDHHC3 chr3 44941663 44992618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TGM4,ZDHHC3 chr3 44962600 44962700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZDHHC3 chr3 44971180 45935424 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCR9,CDCP1,CLEC3B,EXOSC7,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LZTFL1,SACM1L,SLC6A20,TMEM158,ZDHHC3 chr3 44992768 45027966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOSC7,ZDHHC3 chr3 44992768 45027966 Gain and loss Pancreatic cancer SNP array 17952125 EXOSC7,ZDHHC3 chr3 44992768 45027966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOSC7,ZDHHC3 chr3 45042762 45052567 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 EXOSC7 chr3 45042762 45052567 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 EXOSC7 chr3 45042763 45052566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EXOSC7 chr3 45042763 45052566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EXOSC7 chr3 45042774 45052566 Gain and loss Pancreatic cancer SNP array 17952125 EXOSC7 chr3 45050968 45051085 Gain and loss Pancreatic cancer SNP array 17952125 EXOSC7 chr3 45051014 45051085 Gain and loss Pancreatic cancer SNP array 17952125 EXOSC7 chr3 45098774 45162918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDCP1 chr3 45098774 45162918 Gain and loss Pancreatic cancer SNP array 17952125 CDCP1 chr3 45098774 45162918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDCP1 chr3 4510033 4864286 Copy number Lung cancer - 20668451 EGOT,ITPR1 chr3 4510033 4864286 Deletion Cerebellar ataxia Taqman PCR (258 index cases) or SNP genome-wide genotyping (75 index cases) 21555639 EGOT,ITPR1 chr3 4510033 4864286 Gain or loss Breast cancer - 20668451 EGOT,ITPR1 chr3 4510033 4864286 Gain or loss Cancer - 20668451 EGOT,ITPR1 chr3 4510033 4864286 Gain or loss Lung cancer - 20668451 EGOT,ITPR1 chr3 4510033 4864286 Gain or loss Ovarian cancer - 20668451 EGOT,ITPR1 chr3 4510033 4864286 Gain or loss Pancreas cancer - 20668451 EGOT,ITPR1 chr3 4510033 4864286 Gain or loss Prostate cancer - 20668451 EGOT,ITPR1 chr3 4510034 4864286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGOT,ITPR1 chr3 4510034 4864286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGOT,ITPR1 chr3 4510136 4864081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EGOT,ITPR1 chr3 4510136 4864081 Gain and loss Pancreatic cancer SNP array 17952125 EGOT,ITPR1 chr3 45124274 45124359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDCP1 chr3 45125259 45125432 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CDCP1 chr3 45135139 45135229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDCP1 chr3 4519327 4519427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 45202312 49211362 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ALS2CL,ARIH2,ATRIP,C3orf71,CAMP,CCDC12,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CELSR3,COL7A1,CSPG5,CXCR6,DALRD3,DHX30,ELP6,FBXW12,FLJ39534,FYCO1,IMPDH2,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LOC100132146,LRRC2,LTF,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4443,MIR4793,MIR711,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RTP3,SACM1L,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SLC6A20,SMARCC1,SPINK8,TDGF1,TMA7,TMEM158,TMEM89,TMIE,TREX1,UCN2,UQCRC1,USP19,WDR6,XCR1,ZNF589 chr3 45218934 45266963 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM158 chr3 45220748 45266963 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMEM158 chr3 45227836 45258467 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 45241621 45242523 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 45241621 45242523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 45271905 45272111 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 45271906 45272116 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 45271906 45272116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 45324858 45324958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 4535878 4535978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR1 chr3 45372041 45372141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 45376685 45376785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 45405072 45565332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARS2,LARS2-AS1 chr3 45405072 45565332 Gain and loss Pancreatic cancer SNP array 17952125 LARS2,LARS2-AS1 chr3 45405072 45565332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARS2,LARS2-AS1 chr3 45411945 46155420 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCR9,CXCR6,FYCO1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LZTFL1,SACM1L,SLC6A20,XCR1 chr3 45449563 45449663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARS2 chr3 45457472 45490679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LARS2 chr3 4550009 4550109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR1 chr3 45507336 45507471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARS2 chr3 45507983 45508015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARS2 chr3 45530986 45531075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARS2,LARS2-AS1 chr3 45542426 45542660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARS2,LARS2-AS1 chr3 45542651 45542871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LARS2,LARS2-AS1 chr3 45570055 49688265 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,AMT,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CELSR3,COL7A1,CSPG5,CXCR6,DAG1,DALRD3,DHX30,ELP6,FBXW12,FLJ39534,FYCO1,GPX1,IMPDH2,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR711,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RHOA,RTP3,SACM1L,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SLC6A20,SMARCC1,SPINK8,TCTA,TDGF1,TMA7,TMEM89,TMIE,TREX1,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZNF589 chr3 45570055 49689793 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,AMT,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CDC25A,CELSR3,COL7A1,CSPG5,CXCR6,DAG1,DALRD3,DHX30,ELP6,FBXW12,FLJ39534,FYCO1,GPX1,IMPDH2,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LARS2,LIMD1,LIMD1-AS1,LOC100132146,LOC646498,LRRC2,LTF,LZTFL1,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR711,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RHOA,RTP3,SACM1L,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SLC6A20,SMARCC1,SPINK8,TCTA,TDGF1,TMA7,TMEM89,TMIE,TREX1,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZNF589 chr3 45584908 45585319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LARS2 chr3 45606501 45612500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 45611326 45697759 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 LIMD1 chr3 45611327 45697759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIMD1 chr3 45611327 45697759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMD1 chr3 45611355 45696569 Gain and loss Pancreatic cancer SNP array 17952125 LIMD1 chr3 45615526 45615626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 45630356 45663936 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LIMD1 chr3 45638744 45638839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIMD1 chr3 45705893 45761904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LIMD1,LIMD1-AS1,SACM1L chr3 45705893 45761904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LIMD1,LIMD1-AS1,SACM1L chr3 45708302 45708456 Loss Normal 244K array 17666407 LIMD1 chr3 45723271 45723532 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LIMD1-AS1 chr3 45726549 45726649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LIMD1-AS1 chr3 45743356 45743680 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SACM1L chr3 45759171 45759464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SACM1L chr3 45759171 45759466 Gain and loss Pancreatic cancer SNP array 17952125 SACM1L chr3 45762501 45764000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SACM1L chr3 45766515 46702540 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CXCR6,FYCO1,LOC100132146,LRRC2,LTF,LZTFL1,RTP3,SACM1L,SLC6A20,TDGF1,XCR1 chr3 45766727 45766781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SACM1L chr3 45771946 45812966 Gain and loss Pancreatic cancer SNP array 17952125 SACM1L,SLC6A20 chr3 45771946 45813190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SACM1L,SLC6A20 chr3 45771946 45813190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SACM1L,SLC6A20 chr3 45806056 45806109 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC6A20 chr3 4581525 4581584 Gain and loss Pancreatic cancer SNP array 17952125 ITPR1 chr3 45818412 46488784 LOH Normal High-resolution SNP genotyping 21211785 CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CXCR6,FYCO1,LTF,LZTFL1,SLC6A20,XCR1 chr3 45825965 45861049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC6A20 chr3 45840459 45932538 Gain and loss Pancreatic cancer SNP array 17952125 CCR9,LZTFL1 chr3 45840461 45858625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 45840461 45858625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 45849461 48179116 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,CCDC12,CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CSPG5,CXCR6,DHX30,ELP6,FLJ39534,FYCO1,KIF9,KLHL18,LOC100132146,LRRC2,LTF,LZTFL1,MAP4,MIR1226,MYL3,NBEAL2,NRADDP,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,RTP3,SCAP,SETD2,SMARCC1,TDGF1,TMIE,XCR1 chr3 458675 773503 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 458675 773503 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 45868626 45902729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LZTFL1 chr3 458868 9852213 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ARL8B,ARPC4,ARPC4-TTLL3,BHLHE40,BRPF1,C3orf32,CAMK1,CAV3,CNTN4,CNTN4-AS2,CNTN6,CPNE9,CRBN,EDEM1,EGOT,GRM7,IL5RA,ITPR1,LHFPL4,LINC00312,LMCD1,LOC100288428,LOC100507582,LOC440944,LRRN1,MIR4790,MTMR14,OGG1,OXTR,RAD18,SETD5,SETMAR,SRGAP3,SUMF1,TADA3,THUMPD3,TRNT1,TTLL3 chr3 45903022 45919671 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 45903022 45919671 Gain or loss Cancer - 20668451 NOT_FOUND chr3 45903022 45919671 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 45903022 45919671 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 45903022 45919671 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 45903022 45919671 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 45903023 45919671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 45903023 45919671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 45903023 45919671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 45906202 45906302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 45914435 46566545 LOH Normal High-resolution SNP genotyping 21211785 CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CXCR6,FYCO1,LRRC2,LTF,RTP3,XCR1 chr3 45919683 45919792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 45919683 45919793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 45919683 45919794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 45934400 46012308 Gain and loss Pancreatic cancer SNP array 17952125 CCR9,CXCR6,FYCO1 chr3 45934400 46012311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCR9,CXCR6,FYCO1 chr3 45934400 46012311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCR9,CXCR6,FYCO1 chr3 45950987 49696536 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 ALS2CL,AMT,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCRL2,CDC25A,CELSR3,COL7A1,CSPG5,CXCR6,DAG1,DALRD3,DHX30,ELP6,FBXW12,FLJ39534,FYCO1,GPX1,IMPDH2,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LOC100132146,LOC646498,LRRC2,LTF,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR711,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RHOA,RTP3,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TDGF1,TMA7,TMEM89,TMIE,TREX1,UCN2,UQCRC1,USP19,USP4,WDR6,XCR1,ZNF589 chr3 45959976 45964849 Gain or loss Breast cancer - 20668451 FYCO1 chr3 45959976 45964849 Gain or loss Cancer - 20668451 FYCO1 chr3 45959976 45964849 Gain or loss Lung cancer - 20668451 FYCO1 chr3 45959976 45964849 Gain or loss Ovarian cancer - 20668451 FYCO1 chr3 45959976 45964849 Gain or loss Pancreas cancer - 20668451 FYCO1 chr3 45959976 45964849 Gain or loss Prostate cancer - 20668451 FYCO1 chr3 45959977 45964849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FYCO1 chr3 45959977 45964849 Gain and loss Pancreatic cancer SNP array 17952125 FYCO1 chr3 45959977 45964849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FYCO1 chr3 46020877 46021129 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FYCO1 chr3 4603079 4603229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR1 chr3 46037294 46043983 Gain or loss Breast cancer - 20668451 FYCO1 chr3 46037294 46043983 Gain or loss Cancer - 20668451 FYCO1 chr3 46037294 46043983 Gain or loss Lung cancer - 20668451 FYCO1 chr3 46037294 46043983 Gain or loss Ovarian cancer - 20668451 FYCO1 chr3 46037294 46043983 Gain or loss Pancreas cancer - 20668451 FYCO1 chr3 46037294 46043983 Gain or loss Prostate cancer - 20668451 FYCO1 chr3 46037295 46043983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FYCO1 chr3 46037295 46043983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FYCO1 chr3 46037442 46038443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 46118934 46417056 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCR1,CCR2,CCR3,CCR5 chr3 46118934 46513022 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCR1,CCR2,CCR3,CCR5,CCRL2,LTF chr3 46141 33554787 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CCR4,CHCHD4,CHL1,CIDEC,CIDECP,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,DAZL,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EMC3,EOMES,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GPD1L,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRN1,LSM3,METTL6,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NEK10,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL15,RPL32,RPUSD3,SATB1,SEC13,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TMPPE,TOP2B,TPRXL,TRIM71,TRNT1,TSEN2,TTLL3,UBE2E1,UBE2E2,UBP1,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZCWPW2,ZFYVE20,ZNF385D,ZNF860 chr3 46156 218278 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 46156 343409 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHL1 chr3 46156 343409 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHL1 chr3 46156 518322 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHL1 chr3 46156 773503 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 CHL1 chr3 46156 773503 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CHL1 chr3 46180099 46283166 Copy number Lung cancer - 20668451 CCR1 chr3 46180099 46283166 Gain or loss Breast cancer - 20668451 CCR1 chr3 46180099 46283166 Gain or loss Cancer - 20668451 CCR1 chr3 46180099 46283166 Gain or loss Lung cancer - 20668451 CCR1 chr3 46180099 46283166 Gain or loss Ovarian cancer - 20668451 CCR1 chr3 46180099 46283166 Gain or loss Pancreas cancer - 20668451 CCR1 chr3 46180099 46283166 Gain or loss Prostate cancer - 20668451 CCR1 chr3 46198520 46198799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 46210003 50132483 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-412K arrays 21546498 ALS2CL,AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCR1,CCR2,CCR3,CCR5,CCRL2,CDC25A,CDHR4,CELSR3,COL7A1,CSPG5,DAG1,DALRD3,DHX30,ELP6,FAM212A,FBXW12,FLJ39534,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LOC100132146,LOC646498,LRRC2,LTF,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RBM5,RBM6,RHOA,RNF123,RTP3,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TDGF1,TMA7,TMEM89,TMIE,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 46218203 46224836 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 46218203 46224836 Gain or loss Cancer - 20668451 NOT_FOUND chr3 46218203 46224836 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 46218203 46224836 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 46218203 46224836 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 46218203 46224836 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 46218204 46224836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46218204 46224836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46218732 46224824 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 46227186 46283166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCR1 chr3 46227186 46283166 Gain and loss Pancreatic cancer SNP array 17952125 CCR1 chr3 46227186 46283166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCR1 chr3 46252542 46252642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 46255071 46255151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 4636305 4636504 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 ITPR1 chr3 46368200 46368300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 46370364 46377427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46370364 46377427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46370644 46377423 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 46386637 46392695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 46386637 46392700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46413547 46414547 Loss Chordoma References 21215367 CCR5 chr3 46414148 46415148 Gain Chordoma References 21215367 CCR5 chr3 46422127 49618133 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,AMT,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CCRL2,CDC25A,CELSR3,COL7A1,CSPG5,DAG1,DALRD3,DHX30,ELP6,FBXW12,FLJ39534,GPX1,IMPDH2,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LOC100132146,LOC646498,LRRC2,LTF,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR711,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RHOA,RTP3,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TDGF1,TMA7,TMEM89,TMIE,TREX1,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 46423658 46426017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46423658 46426017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46423683 46426017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 464344 464436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 46444610 46445610 Gain Chordoma References 21215367 NOT_FOUND chr3 46449900 46449975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCRL2 chr3 46452503 46481404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LTF chr3 46452503 46481404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LTF chr3 46452508 46481657 Gain and loss Pancreatic cancer SNP array 17952125 LTF chr3 46488784 46728596 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ALS2CL,LOC100132146,LRRC2,LTF,RTP3,TDGF1 chr3 46514489 46517417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46514489 46517417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46514489 46517443 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 46531917 46596576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC2,RTP3 chr3 46531917 46596576 Gain and loss Pancreatic cancer SNP array 17952125 LRRC2,RTP3 chr3 46531917 46596576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC2,RTP3 chr3 46534671 47516603 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 ALS2CL,CCDC12,FLJ39534,KIF9,KLHL18,LOC100132146,LRRC2,MYL3,NBEAL2,NRADDP,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,RTP3,SCAP,SETD2,TDGF1,TMIE chr3 46542253 46542353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RTP3 chr3 46546523 47426232 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,CCDC12,FLJ39534,KIF9,KLHL18,LOC100132146,LRRC2,MYL3,NBEAL2,NRADDP,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,SETD2,TDGF1,TMIE chr3 46563445 46563545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRRC2 chr3 46573892 46576182 Gain and loss Pancreatic cancer SNP array 17952125 LRRC2 chr3 46594282 46598715 Gain and loss Pancreatic cancer SNP array 17952125 LRRC2 chr3 46594283 46598931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRRC2 chr3 46594283 46598931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRRC2 chr3 46639144 46728596 Copy number gain Normal High-resolution SNP genotyping 21211785 ALS2CL,LOC100132146 chr3 46642276 46642702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46651963 87554404 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-405K arrays 21546498 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD6,ACOX2,ACTR8,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ASB14,ATRIP,ATXN7,BAP1,BSN,BSN-AS2,C3orf14,C3orf18,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC66,CCDC71,CDC25A,CDHR4,CELSR3,CHDH,CHMP2B,CISH,CNTN3,COL7A1,CSPG5,CYB561D2,DAG1,DALRD3,DCP1A,DHX30,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,EBLN2,EIF4E3,ELP6,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FBXW12,FEZF2,FHIT,FLJ20518,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,GBE1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR27,GPR62,GPX1,GRM2,GXYLT2,HEMK1,HESX1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RD,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD8,KCTD6,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LMOD3,LOC100132146,LOC100287879,LOC100506994,LOC201617,LOC285401,LOC401074,LOC440970,LOC646498,LRIG1,LRTM1,LUST,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,MIR1226,MIR1284,MIR1324,MIR135A1,MIR191,MIR3136,MIR3938,MIR425,MIR4271,MIR4272,MIR4273,MIR4443,MIR4444-1,MIR4787,MIR4793,MIR4795,MIR5193,MIR548A2,MIR5688,MIR711,MIRLET7G,MITF,MON1A,MST1,MST1R,MUSTN1,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK4,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLXNB1,POC1A,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RFT1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL29,RPP14,RRP9,RYBP,SCAP,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SFMBT1,SHISA5,SHQ1,SLC25A20,SLC25A26,SLC26A6,SLC38A3,SLMAP,SMARCC1,SNORD19,SNORD19B,SNORD69,SNTN,SPATA12,SPCS1,SPINK8,STAB1,SUCLG2,SYNPR,SYNPR-AS1,TCTA,TEX264,THOC7,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM89,TMF1,TMIE,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA3,UBA7,UCN2,UQCRC1,USP19,USP4,VGLL3,VPRBP,WDR6,WDR82,WNT5A,ZMYND10,ZNF589,ZNF717 chr3 46655456 46947493 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ALS2CL,LOC100132146,MYL3,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,TMIE chr3 46661624 46661823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100132146 chr3 46661844 46662001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100132146 chr3 46676001 46734500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALS2CL chr3 46685682 46710175 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr3 46685683 46710175 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 46685683 46710195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46685683 46710195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46698119 48487648 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,CAMP,CCDC12,CCDC51,CDC25A,CSPG5,DHX30,ELP6,FBXW12,FLJ39534,KIF9,KLHL18,MAP4,MIR1226,MIR4443,MYL3,NBEAL2,NME6,NRADDP,PLXNB1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,SCAP,SETD2,SMARCC1,SPINK8,TMA7,TMIE,ZNF589 chr3 46702540 47633531 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ALS2CL,CCDC12,CSPG5,ELP6,FLJ39534,KIF9,KLHL18,MYL3,NBEAL2,NRADDP,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,SCAP,SETD2,SMARCC1,TMIE chr3 46714643 48369936 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,CAMP,CCDC12,CDC25A,CSPG5,DHX30,ELP6,FLJ39534,KIF9,KLHL18,MAP4,MIR1226,MIR4443,MYL3,NBEAL2,NME6,NRADDP,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,SCAP,SETD2,SMARCC1,SPINK8,TMIE,ZNF589 chr3 46717827 46727205 Gain and loss Pancreatic cancer SNP array 17952125 ALS2CL chr3 46717827 46727417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CL chr3 46717827 46727417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CL chr3 46719434 49159726 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,ARIH2,ATRIP,C3orf71,CAMP,CCDC12,CCDC51,CDC25A,CELSR3,COL7A1,CSPG5,DALRD3,DHX30,ELP6,FBXW12,FLJ39534,IMPDH2,IP6K2,KIF9,KLHL18,LAMB2,MAP4,MIR1226,MIR191,MIR425,MIR4443,MIR4793,MIR711,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TMA7,TMEM89,TMIE,TREX1,UCN2,UQCRC1,USP19,WDR6,ZNF589 chr3 4672203 5312127 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL8B,BHLHE40,EDEM1,EGOT,ITPR1,LOC100507582,MIR4790 chr3 46728596 48369936 LOH Normal High-resolution SNP genotyping 21211785 ALS2CL,CAMP,CCDC12,CDC25A,CSPG5,DHX30,ELP6,FLJ39534,KIF9,KLHL18,MAP4,MIR1226,MIR4443,MYL3,NBEAL2,NME6,NRADDP,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,SCAP,SETD2,SMARCC1,SPINK8,TMIE,ZNF589 chr3 46728610 46734368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALS2CL chr3 46728610 46734368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALS2CL chr3 46728611 46829068 Gain and loss Pancreatic cancer SNP array 17952125 ALS2CL,PRSS45,PRSS46,PRSS50,TMIE chr3 46734501 46861500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALS2CL,PRSS45,PRSS46,PRSS50,TMIE chr3 46748212 46748312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMIE chr3 46752813 46766435 Gain Normal 244K array 17666407 PRSS46,PRSS50 chr3 46753634 46836119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS45,PRSS46,PRSS50 chr3 46758586 46829052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRSS45,PRSS46,PRSS50 chr3 46758586 46829052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRSS45,PRSS46,PRSS50 chr3 46759748 46829784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS45,PRSS46 chr3 46765923 46840610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRSS45,PRSS46 chr3 46766549 46824593 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PRSS45,PRSS46 chr3 46770243 46947493 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MYL3,PRSS42,PRSS45,PRSS46,PTH1R chr3 46771035 46824521 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 PRSS45,PRSS46 chr3 46771064 46825077 Loss or gain Normal 244K array 17666407 PRSS45,PRSS46 chr3 46776809 46822233 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRSS45,PRSS46 chr3 46776809 46822530 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRSS45,PRSS46 chr3 46776809 46822608 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRSS45,PRSS46 chr3 46776809 46824581 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRSS45,PRSS46 chr3 46776809 46834824 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 PRSS45,PRSS46 chr3 46776821 46824285 Loss Normal Birdsuite, version 1.5.2 22087296 PRSS45,PRSS46 chr3 46831415 46831494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 46846898 46850589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46846898 46850589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 46846898 46850589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 46857872 52743025 Gain Prostate cancer Array CGH 18632612 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,AMIGO3,AMT,APEH,ARIH2,ATRIP,BAP1,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,C3orf74,C3orf78,CACNA2D2,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,CISH,COL7A1,CSPG5,CYB561D2,DAG1,DALRD3,DHX30,DNAH1,DOCK3,DUSP7,ELP6,FAM212A,FBXW12,FLJ39534,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LOC646498,LUST,MANF,MAP4,MAPKAPK3,MIR1226,MIR135A1,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR711,MIRLET7G,MON1A,MST1,MST1R,MYL3,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NISCH,NME6,NPRL2,NRADDP,NT5DC2,P4HTM,PARP3,PBRM1,PCBP4,PFKFB4,PHF7,PLXNB1,POC1A,PPM1M,PRKAR2A,PRSS42,PTH1R,PTPN23,QARS,QRICH1,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RHOA,RNF123,RPL29,RRP9,SCAP,SEMA3B,SEMA3F,SEMA3G,SETD2,SHISA5,SLC25A20,SLC26A6,SLC38A3,SMARCC1,SNORD19,SNORD19B,SNORD69,SPCS1,SPINK8,STAB1,TCTA,TEX264,TLR9,TMA7,TMEM115,TMEM89,TNNC1,TRAIP,TREX1,TUSC2,TWF2,UBA7,UCN2,UQCRC1,USP19,USP4,VPRBP,WDR6,WDR82,ZMYND10,ZNF589 chr3 46861501 46927000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MYL3,PRSS42,PTH1R chr3 46861873 49882696 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,COL7A1,CSPG5,DAG1,DALRD3,DHX30,ELP6,FAM212A,FBXW12,FLJ39534,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LOC646498,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MST1,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PRSS42,PTH1R,PTPN23,QARS,QRICH1,RHOA,RNF123,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 46870380 47292669 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 CCDC12,FLJ39534,KIF9,MYL3,NBEAL2,NRADDP,PRSS42,PTH1R,SETD2 chr3 46874361 46879977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRSS42 chr3 46874361 46879977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRSS42 chr3 46874371 46879938 Gain and loss Pancreatic cancer SNP array 17952125 PRSS42 chr3 46874997 46875043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRSS42 chr3 46878925 49296729 LOH Normal High-resolution SNP genotyping 21211785 ARIH2,ATRIP,C3orf71,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CDC25A,CELSR3,COL7A1,CSPG5,DALRD3,DHX30,ELP6,FBXW12,FLJ39534,IMPDH2,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LOC646498,MAP4,MIR1226,MIR191,MIR425,MIR4443,MIR4793,MIR711,MYL3,NBEAL2,NCKIPSD,NDUFAF3,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PTH1R,PTPN23,QARS,QRICH1,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TMA7,TMEM89,TREX1,UCN2,UQCRC1,USP19,WDR6,ZNF589 chr3 46886364 46886452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 46894239 46920293 Gain or loss Breast cancer - 20668451 MYL3,PTH1R chr3 46894239 46920293 Gain or loss Cancer - 20668451 MYL3,PTH1R chr3 46894239 46920293 Gain or loss Lung cancer - 20668451 MYL3,PTH1R chr3 46894239 46920293 Gain or loss Ovarian cancer - 20668451 MYL3,PTH1R chr3 46894239 46920293 Gain or loss Pancreas cancer - 20668451 MYL3,PTH1R chr3 46894239 46920293 Gain or loss Prostate cancer - 20668451 MYL3,PTH1R chr3 46899997 46926585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYL3,PTH1R chr3 46899997 46926585 Gain and loss Pancreatic cancer SNP array 17952125 MYL3,PTH1R chr3 46899997 46926585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYL3,PTH1R chr3 46927001 46992500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC12,PTH1R chr3 46936652 46982245 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC12,PTH1R chr3 46938225 46993242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC12,PTH1R chr3 46938225 46993242 Gain and loss Pancreatic cancer SNP array 17952125 CCDC12,PTH1R chr3 46938225 46993242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC12,PTH1R chr3 46951302 47566200 LOH Normal High-resolution SNP genotyping 21211785 CCDC12,ELP6,FLJ39534,KIF9,KLHL18,NBEAL2,NRADDP,PTPN23,SCAP,SETD2 chr3 46955834 50087877 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMKV,CAMP,CCDC12,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,COL7A1,CSPG5,DAG1,DALRD3,DHX30,ELP6,FAM212A,FBXW12,FLJ39534,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LOC646498,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PTPN23,QARS,QRICH1,RBM6,RHOA,RNF123,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 46959237 46959337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 46968293 46968293 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CCDC12 chr3 46977895 47303748 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CCDC12,FLJ39534,KIF9,NBEAL2,NRADDP,SETD2 chr3 46992501 47030000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC12,NBEAL2 chr3 46994998 46995116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC12 chr3 46996177 47026197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC12,NBEAL2 chr3 46996177 47026197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC12,NBEAL2 chr3 46996337 47026042 Gain and loss Pancreatic cancer SNP array 17952125 CCDC12,NBEAL2 chr3 4701765 4702765 Gain Renal cell carcinoma References 21215367 ITPR1 chr3 47018884 50073930 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMKV,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,COL7A1,CSPG5,DAG1,DALRD3,DHX30,ELP6,FAM212A,FBXW12,FLJ39534,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KIF9,KLHDC8B,KLHL18,LAMB2,LAMB2P1,LOC646498,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NBEAL2,NCKIPSD,NDUFAF3,NICN1,NME6,NRADDP,P4HTM,PFKFB4,PLXNB1,PRKAR2A,PTPN23,QARS,QRICH1,RBM6,RHOA,RNF123,SCAP,SETD2,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 47023978 47024069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBEAL2 chr3 47028799 47029352 Gain and loss Pancreatic cancer SNP array 17952125 NBEAL2 chr3 47032910 47180461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NBEAL2,NRADDP,SETD2 chr3 47032910 47180461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NBEAL2,NRADDP,SETD2 chr3 47032926 47140744 Gain and loss Pancreatic cancer SNP array 17952125 NBEAL2,NRADDP,SETD2 chr3 47040264 47040362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NBEAL2 chr3 47176534 47221442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLJ39534,SETD2 chr3 47244890 47299092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ39534,KIF9 chr3 47244890 47299092 Gain and loss Pancreatic cancer SNP array 17952125 FLJ39534,KIF9 chr3 47244890 47299092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ39534,KIF9 chr3 4725489 4886697 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 EGOT,ITPR1 chr3 47256641 48142694 Indels Normal Affymetrix and Illumina arrays 20811451 CSPG5,DHX30,ELP6,FLJ39534,KIF9,KLHL18,MAP4,MIR1226,PTPN23,SCAP,SMARCC1 chr3 47259537 47259714 Loss Autism 1M Ailent CGH whole-genome array 21865298 FLJ39534 chr3 47267017 47267120 Gain and loss Pancreatic cancer SNP array 17952125 FLJ39534 chr3 47267017 47267120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ39534 chr3 47287188 47287288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF9 chr3 47299444 47363306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIF9,KLHL18 chr3 47299444 47363306 Gain and loss Pancreatic cancer SNP array 17952125 KIF9,KLHL18 chr3 47299444 47363306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIF9,KLHL18 chr3 47318753 47318848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIF9 chr3 47371678 47416955 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KLHL18 chr3 47376618 47376708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KLHL18 chr3 47389136 47421001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 47397495 47429935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN23 chr3 47397495 47429935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN23 chr3 47397528 47429929 Gain and loss Pancreatic cancer SNP array 17952125 PTPN23 chr3 47421001 47441000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPN23 chr3 47423895 47428173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN23 chr3 47430188 47492449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PTPN23,SCAP chr3 47430188 47492449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PTPN23,SCAP chr3 47430207 47459524 Gain and loss Pancreatic cancer SNP array 17952125 PTPN23,SCAP chr3 47440806 47474108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PTPN23,SCAP chr3 47441001 47601500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ELP6,PTPN23,SCAP chr3 47447751 47447811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPN23 chr3 47463601 47470500 Deletion Glioma mate-paired sequence 20126413 SCAP chr3 47463788 47493137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SCAP chr3 47465672 47468449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SCAP chr3 47465699 47468393 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SCAP chr3 47512135 47530203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCAP chr3 47512135 47530203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCAP chr3 47512558 47530188 Gain and loss Pancreatic cancer SNP array 17952125 SCAP chr3 47517577 47517674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 47517577 47517676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 47517585 47517672 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 47527600 47527835 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr3 47536300 49182291 LOH Normal High-resolution SNP genotyping 21211785 ARIH2,ATRIP,C3orf71,CAMP,CCDC51,CDC25A,CELSR3,COL7A1,CSPG5,DALRD3,DHX30,ELP6,FBXW12,IMPDH2,IP6K2,LAMB2,MAP4,MIR1226,MIR191,MIR425,MIR4443,MIR4793,MIR711,NCKIPSD,NDUFAF3,NME6,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TMA7,TMEM89,TREX1,UCN2,UQCRC1,USP19,WDR6,ZNF589 chr3 47540433 47553609 Gain Normal 244K array 17666407 ELP6 chr3 47544332 47544405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELP6 chr3 47553177 47553262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ELP6 chr3 47559623 48358111 LOH Normal High-resolution SNP genotyping 21211785 CAMP,CDC25A,CSPG5,DHX30,MAP4,MIR1226,MIR4443,NME6,SMARCC1,SPINK8,ZNF589 chr3 47559623 49736774 LOH Normal High-resolution SNP genotyping 21211785 AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CELSR3,COL7A1,CSPG5,DAG1,DALRD3,DHX30,FBXW12,GPX1,IMPDH2,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR711,MST1,NCKIPSD,NDUFAF3,NICN1,NME6,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RHOA,RNF123,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TMA7,TMEM89,TREX1,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 47559623 49738004 LOH Normal High-resolution SNP genotyping 21211785 AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CELSR3,COL7A1,CSPG5,DAG1,DALRD3,DHX30,FBXW12,GPX1,IMPDH2,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR711,MST1,NCKIPSD,NDUFAF3,NICN1,NME6,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RHOA,RNF123,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TMA7,TMEM89,TREX1,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 47574170 48137178 LOH Normal High-resolution SNP genotyping 21211785 CSPG5,DHX30,MAP4,MIR1226,SMARCC1 chr3 47574889 47609915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSPG5 chr3 47576723 47577022 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 47576723 47577022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 47576725 47577022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 47578733 47597286 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 47578741 47597286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 47578741 47597286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 47591663 47624308 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CSPG5 chr3 47602391 47798410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CSPG5,SMARCC1 chr3 47602391 47798410 Gain and loss Pancreatic cancer SNP array 17952125 CSPG5,SMARCC1 chr3 47602391 47798410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSPG5,SMARCC1 chr3 47618209 47621171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CSPG5 chr3 47637859 50175839 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMKV,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,COL7A1,DAG1,DALRD3,DHX30,FAM212A,FBXW12,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MAP4,MIR1226,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NCKIPSD,NDUFAF3,NICN1,NME6,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RBM5,RBM6,RHOA,RNF123,SHISA5,SLC25A20,SLC26A6,SMARCC1,SPINK8,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 47695112 47837584 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SMARCC1 chr3 47730 48354 Copy number Autism exome sequencing 22495311 NOT_FOUND chr3 47743359 47837583 Loss Normal Birdsuite, version 1.5.2 22087296 SMARCC1 chr3 47779107 47802688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCC1 chr3 47792001 47862500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHX30,SMARCC1 chr3 47795135 47814135 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCC1 chr3 47796497 47801376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCC1 chr3 47796635 47804600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCC1 chr3 47797372 47821694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCC1 chr3 47800306 47810146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SMARCC1 chr3 47801532 47805484 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 SMARCC1 chr3 47819625 47866686 Gain and loss Pancreatic cancer SNP array 17952125 DHX30,SMARCC1 chr3 47819655 47866686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHX30,SMARCC1 chr3 47819655 47866686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX30,SMARCC1 chr3 4783471 4810418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EGOT,ITPR1 chr3 47859957 47933041 Gain Normal Birdsuite, version 1.5.2 22087296 DHX30,MAP4,MIR1226 chr3 47862501 47866500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DHX30 chr3 47866049 47866123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX30 chr3 47867188 48105715 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 DHX30,MAP4,MIR1226 chr3 47867188 48105715 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 DHX30,MAP4,MIR1226 chr3 47867190 48105768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHX30,MAP4,MIR1226 chr3 47867190 48105768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX30,MAP4,MIR1226 chr3 47868362 48105768 Gain and loss Pancreatic cancer SNP array 17952125 DHX30,MAP4,MIR1226 chr3 47891351 47891512 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DHX30 chr3 47900000 50000000 Deletion abnormal development HR-CGH, Array-CGH 18461090 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMKV,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,COL7A1,DAG1,DALRD3,FAM212A,FBXW12,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MAP4,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NCKIPSD,NDUFAF3,NICN1,NME6,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RBM6,RHOA,RNF123,SHISA5,SLC25A20,SLC26A6,SPINK8,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 47930904 47931004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP4 chr3 47948302 47948408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4 chr3 47948303 47948408 Gain and loss Pancreatic cancer SNP array 17952125 MAP4 chr3 47948304 47948408 Gain and loss Pancreatic cancer SNP array 17952125 MAP4 chr3 4798389 4798489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR1 chr3 47992454 47992554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP4 chr3 4800318 4800418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITPR1 chr3 48066508 48066608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAP4 chr3 48111295 48111594 Gain and loss Pancreatic cancer SNP array 17952125 MAP4 chr3 48111295 48111599 Gain and loss Pancreatic cancer SNP array 17952125 MAP4 chr3 48111297 48111599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAP4 chr3 48137154 48137712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48137163 48137712 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 48137178 50156278 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMKV,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,COL7A1,DAG1,DALRD3,FAM212A,FBXW12,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NCKIPSD,NDUFAF3,NICN1,NME6,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RBM5,RBM6,RHOA,RNF123,SHISA5,SLC25A20,SLC26A6,SPINK8,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 48137178 50405840 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,COL7A1,CYB561D2,DAG1,DALRD3,FAM212A,FBXW12,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NAT6,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SHISA5,SLC25A20,SLC26A6,SLC38A3,SPINK8,TCTA,TMA7,TMEM115,TMEM89,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZMYND10,ZNF589 chr3 48170911 50226695 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMKV,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,COL7A1,DAG1,DALRD3,FAM212A,FBXW12,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NCKIPSD,NDUFAF3,NICN1,NME6,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RBM5,RBM6,RHOA,RNF123,SEMA3F,SHISA5,SLC25A20,SLC26A6,SPINK8,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZNF589 chr3 48170911 50721790 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CAMP,CCDC36,CCDC51,CCDC71,CDC25A,CDHR4,CELSR3,CISH,COL7A1,CYB561D2,DAG1,DALRD3,DOCK3,FAM212A,FBXW12,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MAPKAPK3,MIR191,MIR425,MIR4271,MIR4443,MIR4787,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NAT6,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SHISA5,SLC25A20,SLC26A6,SLC38A3,SPINK8,TCTA,TMA7,TMEM115,TMEM89,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZMYND10,ZNF589 chr3 48172041 48172174 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 48172049 48172182 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 48173671 48204805 Copy number Lung cancer - 20668451 CDC25A chr3 48173671 48204805 Gain or loss Breast cancer - 20668451 CDC25A chr3 48173671 48204805 Gain or loss Cancer - 20668451 CDC25A chr3 48173671 48204805 Gain or loss Lung cancer - 20668451 CDC25A chr3 48173671 48204805 Gain or loss Ovarian cancer - 20668451 CDC25A chr3 48173671 48204805 Gain or loss Pancreas cancer - 20668451 CDC25A chr3 48173671 48204805 Gain or loss Prostate cancer - 20668451 CDC25A chr3 48173672 48204805 Gain and loss Pancreatic cancer SNP array 17952125 CDC25A chr3 48173674 48204805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDC25A chr3 48173674 48204805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDC25A chr3 48180846 48879848 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ATRIP,CAMP,CCDC51,CDC25A,CELSR3,COL7A1,FBXW12,IP6K2,MIR4443,MIR4793,MIR711,NCKIPSD,NME6,PFKFB4,PLXNB1,PRKAR2A,SHISA5,SLC26A6,SPINK8,TMA7,TMEM89,TREX1,UCN2,UQCRC1,ZNF589 chr3 48196823 48196883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 48237180 50405840 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CAMP,CCDC36,CCDC51,CCDC71,CDHR4,CELSR3,COL7A1,CYB561D2,DAG1,DALRD3,FAM212A,FBXW12,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MIR191,MIR425,MIR4271,MIR4443,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NAT6,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SHISA5,SLC25A20,SLC26A6,SLC38A3,SPINK8,TCTA,TMA7,TMEM115,TMEM89,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZMYND10,ZNF589 chr3 48239866 48241979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48239866 48241979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 48239866 48241979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48257599 48304117 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 CAMP,ZNF589 chr3 48257600 48287481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMP,ZNF589 chr3 48257600 48287481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMP,ZNF589 chr3 48257623 48304080 Gain and loss Pancreatic cancer SNP array 17952125 CAMP,ZNF589 chr3 48301437 51364610 Loss Developmental delay affymetrix genechip 500K/SNP 6.18 array 21147756 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CCDC36,CCDC51,CCDC71,CDHR4,CELSR3,CISH,COL7A1,CYB561D2,DAG1,DALRD3,DOCK3,FAM212A,FBXW12,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MAPKAPK3,MIR191,MIR425,MIR4271,MIR4787,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NAT6,NCKIPSD,NDUFAF3,NICN1,NME6,NPRL2,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SHISA5,SLC25A20,SLC26A6,SLC38A3,SPINK8,TCTA,TMA7,TMEM115,TMEM89,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZMYND10,ZNF589 chr3 48305081 48305186 Gain and loss Pancreatic cancer SNP array 17952125 ZNF589 chr3 48305081 48305187 Gain and loss Pancreatic cancer SNP array 17952125 ZNF589 chr3 48305081 48305188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF589 chr3 48310595 48317852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF589 chr3 48310595 48317852 Gain and loss Pancreatic cancer SNP array 17952125 ZNF589 chr3 48310595 48317852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF589 chr3 48312628 48312628 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr3 48346498 50680352 Gain Urothelial carcinoma array CGH validated by FISH 21177765 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CCDC36,CCDC51,CCDC71,CDHR4,CELSR3,CISH,COL7A1,CYB561D2,DAG1,DALRD3,FAM212A,FBXW12,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MAPKAPK3,MIR191,MIR425,MIR4271,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NAT6,NCKIPSD,NDUFAF3,NICN1,NPRL2,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SHISA5,SLC25A20,SLC26A6,SLC38A3,SPINK8,TCTA,TMA7,TMEM115,TMEM89,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZMYND10 chr3 48369936 49396180 LOH Normal High-resolution SNP genotyping 21211785 ARIH2,ATRIP,C3orf62,C3orf71,CCDC36,CCDC51,CCDC71,CELSR3,COL7A1,DALRD3,FBXW12,GPX1,IMPDH2,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MIR191,MIR425,MIR4271,MIR4793,MIR711,NCKIPSD,NDUFAF3,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,SHISA5,SLC25A20,SLC26A6,TMA7,TMEM89,TREX1,UCN2,UQCRC1,USP19,USP4,WDR6 chr3 48383485 49296729 LOH Normal High-resolution SNP genotyping 21211785 ARIH2,ATRIP,C3orf71,CCDC36,CCDC51,CCDC71,CELSR3,COL7A1,DALRD3,FBXW12,IMPDH2,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MIR191,MIR425,MIR4793,MIR711,NCKIPSD,NDUFAF3,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,SHISA5,SLC25A20,SLC26A6,TMA7,TMEM89,TREX1,UCN2,UQCRC1,USP19,WDR6 chr3 48384941 49159726 LOH Normal High-resolution SNP genotyping 21211785 ARIH2,ATRIP,C3orf71,CCDC51,CELSR3,COL7A1,DALRD3,FBXW12,IMPDH2,IP6K2,LAMB2,MIR191,MIR425,MIR4793,MIR711,NCKIPSD,NDUFAF3,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,SHISA5,SLC25A20,SLC26A6,TMA7,TMEM89,TREX1,UCN2,UQCRC1,USP19,WDR6 chr3 48387640 50175839 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CAMKV,CCDC36,CCDC51,CCDC71,CDHR4,CELSR3,COL7A1,DAG1,DALRD3,FAM212A,FBXW12,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MIR191,MIR425,MIR4271,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NCKIPSD,NDUFAF3,NICN1,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RBM5,RBM6,RHOA,RNF123,SHISA5,SLC25A20,SLC26A6,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6 chr3 48387640 50721790 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf18,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CCDC36,CCDC51,CCDC71,CDHR4,CELSR3,CISH,COL7A1,CYB561D2,DAG1,DALRD3,DOCK3,FAM212A,FBXW12,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MAPKAPK3,MIR191,MIR425,MIR4271,MIR4787,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NAT6,NCKIPSD,NDUFAF3,NICN1,NPRL2,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SHISA5,SLC25A20,SLC26A6,SLC38A3,TCTA,TMA7,TMEM115,TMEM89,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZMYND10 chr3 48388713 48411194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48388713 48411194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48388719 48411194 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 48396328 48396624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48396328 48396626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 48396328 48396626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48414501 48448000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FBXW12,PLXNB1 chr3 48420265 48446464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FBXW12,PLXNB1 chr3 48420265 48446464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXW12,PLXNB1 chr3 48420266 48446464 Gain and loss Pancreatic cancer SNP array 17952125 FBXW12,PLXNB1 chr3 48429815 50405840 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CCDC36,CCDC51,CCDC71,CDHR4,CELSR3,COL7A1,CYB561D2,DAG1,DALRD3,FAM212A,FBXW12,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MIR191,MIR425,MIR4271,MIR4793,MIR5193,MIR711,MON1A,MST1,MST1R,NAT6,NCKIPSD,NDUFAF3,NICN1,NPRL2,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SHISA5,SLC25A20,SLC26A6,SLC38A3,TCTA,TMA7,TMEM115,TMEM89,TRAIP,TREX1,TUSC2,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6,ZMYND10 chr3 48448001 48481000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC51,PLXNB1 chr3 48448174 48456533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PLXNB1 chr3 48448174 48456533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PLXNB1 chr3 48448591 48456523 Gain and loss Pancreatic cancer SNP array 17952125 PLXNB1 chr3 48463141 48487580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC51,PLXNB1,TMA7 chr3 48463203 48484047 Gain and loss Pancreatic cancer SNP array 17952125 CCDC51,PLXNB1,TMA7 chr3 48463254 48484048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC51,PLXNB1,TMA7 chr3 48463254 48484048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC51,PLXNB1,TMA7 chr3 48464464 49873009 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CCDC36,CCDC51,CCDC71,CDHR4,CELSR3,COL7A1,DAG1,DALRD3,FAM212A,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MIR191,MIR425,MIR4271,MIR4793,MIR5193,MIR711,MST1,NCKIPSD,NDUFAF3,NICN1,P4HTM,PFKFB4,PLXNB1,PRKAR2A,QARS,QRICH1,RHOA,RNF123,SHISA5,SLC25A20,SLC26A6,TCTA,TMA7,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6 chr3 48481001 48486000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CCDC51,TMA7 chr3 48484201 48516665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATRIP,SHISA5,TMA7,TREX1 chr3 48484201 48516665 Gain and loss Pancreatic cancer SNP array 17952125 ATRIP,SHISA5,TMA7,TREX1 chr3 48484201 48516665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATRIP,SHISA5,TMA7,TREX1 chr3 48486001 48529000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATRIP,SHISA5,TREX1 chr3 48490772 48514612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATRIP,SHISA5,TREX1 chr3 48496114 49296729 LOH Normal High-resolution SNP genotyping 21211785 ARIH2,ATRIP,C3orf71,CCDC36,CCDC71,CELSR3,COL7A1,DALRD3,IMPDH2,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MIR191,MIR425,MIR4793,MIR711,NCKIPSD,NDUFAF3,P4HTM,PFKFB4,PRKAR2A,QARS,QRICH1,SHISA5,SLC25A20,SLC26A6,TMEM89,TREX1,UCN2,UQCRC1,USP19,WDR6 chr3 48496114 49870328 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,ATRIP,BSN,BSN-AS2,C3orf62,C3orf71,CCDC36,CCDC71,CDHR4,CELSR3,COL7A1,DAG1,DALRD3,FAM212A,GMPPB,GPX1,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MIR191,MIR425,MIR4271,MIR4793,MIR5193,MIR711,MST1,NCKIPSD,NDUFAF3,NICN1,P4HTM,PFKFB4,PRKAR2A,QARS,QRICH1,RHOA,RNF123,SHISA5,SLC25A20,SLC26A6,TCTA,TMEM89,TRAIP,TREX1,UBA7,UCN2,UQCRC1,USP19,USP4,WDR6 chr3 48503418 48515166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATRIP,SHISA5,TREX1 chr3 48529001 48534500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SHISA5 chr3 48530130 48569231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PFKFB4,SHISA5 chr3 48530130 48569231 Gain and loss Pancreatic cancer SNP array 17952125 PFKFB4,SHISA5 chr3 48530130 48569231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFKFB4,SHISA5 chr3 48534501 48568500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PFKFB4,SHISA5 chr3 48555596 49296729 LOH Normal High-resolution SNP genotyping 21211785 ARIH2,C3orf71,CCDC36,CCDC71,CELSR3,COL7A1,DALRD3,IMPDH2,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MIR191,MIR425,MIR4793,MIR711,NCKIPSD,NDUFAF3,P4HTM,PFKFB4,PRKAR2A,QARS,QRICH1,SLC25A20,SLC26A6,TMEM89,UCN2,UQCRC1,USP19,WDR6 chr3 48568501 48613500 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL7A1,PFKFB4,UCN2 chr3 48574157 48576205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PFKFB4 chr3 48574157 48576205 Gain and loss Pancreatic cancer SNP array 17952125 PFKFB4 chr3 48574157 48576205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFKFB4 chr3 48574184 48618813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 COL7A1,MIR711,PFKFB4,UCN2 chr3 48576510 48607597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL7A1,PFKFB4,UCN2 chr3 48576510 48607597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL7A1,PFKFB4,UCN2 chr3 48576510 48607689 Gain and loss Pancreatic cancer SNP array 17952125 COL7A1,PFKFB4,UCN2 chr3 48591339 48591413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PFKFB4 chr3 48603 105515576 Loss Renal cell carcinoma GeneChip Human Mapping 50K Hind Array 21668985 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ABI3BP,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALCAM,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL13B,ARL6,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CBLB,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CEP97,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLDND1,CLEC3B,CMC1,CMSS1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COL8A1,COLQ,CPNE9,CPOX,CRBN,CRELD1,CRTAP,CRYBG3,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCBLD2,DCLK3,DCP1A,DHFRL1,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPHA6,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM172BP,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FILIP1L,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GABRR3,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR128,GPR15,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IMPG2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LNP1,LOC100009676,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC152225,LOC201617,LOC255025,LOC285326,LOC285359,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MINA,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3921,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548A3,MIR548AC,MIR548G,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NFKBIZ,NGLY1,NICN1,NISCH,NIT2,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NSUN3,NT5DC2,NUP210,NXPE3,OGG1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PCNP,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PROS1,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL24,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SENP7,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,ST3GAL6,ST3GAL6-AS1,STAB1,STAC,STT3B,STX19,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D23,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TFG,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM30C,TMEM40,TMEM42,TMEM43,TMEM45A,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOMM70A,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRMT10C,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB11,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860,ZPLD1 chr3 48603 22699154 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CHL1,CIDEC,CIDECP,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,DAZL,DPH3,EAF1,EDEM1,EFHB,EGOT,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC339862,LOC401052,LOC440944,LRRN1,LSM3,METTL6,MIR3714,MIR4270,MIR4790,MIR4791,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NR2C2,NUP210,OGG1,OXNAD1,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RFTN1,RPL32,RPUSD3,SATB1,SEC13,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SUMF1,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TRNT1,TSEN2,TTLL3,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZFYVE20,ZNF385D chr3 48603 4446500 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHL1,CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,LRRN1,SETMAR,SUMF1,TRNT1 chr3 48603 71295488 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FOXP1,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 48603 87102814 Loss Renal cell carcinoma GeneChip Human Mapping 50K Hind Array 21668985 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CHL1,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF717,ZNF860 chr3 48603 89898956 Loss Renal cell carcinoma GeneChip Human Mapping 50K Hind Array 21668985 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BHLHE40,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHL1,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COL7A1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EDEM1,EFHB,EGOT,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IL5RA,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,ITPR1,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC100507582,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRRN1,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4790,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SETMAR,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUMF1,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 48611435 48622102 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 COL7A1,MIR711 chr3 48611436 48622102 Gain and loss Pancreatic cancer SNP array 17952125 COL7A1,MIR711 chr3 48611436 48622102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL7A1,MIR711 chr3 48613501 48644000 Copy number Normal ReadDepth: A Parallel R Package 21305028 COL7A1,MIR711,UQCRC1 chr3 48633196 48634292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48633196 48634292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48633369 48634193 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 48637834 48684985 Gain or loss Breast cancer - 20668451 CELSR3,MIR4793,SLC26A6,TMEM89,UQCRC1 chr3 48637834 48684985 Gain or loss Cancer - 20668451 CELSR3,MIR4793,SLC26A6,TMEM89,UQCRC1 chr3 48637834 48684985 Gain or loss Lung cancer - 20668451 CELSR3,MIR4793,SLC26A6,TMEM89,UQCRC1 chr3 48637834 48684985 Gain or loss Ovarian cancer - 20668451 CELSR3,MIR4793,SLC26A6,TMEM89,UQCRC1 chr3 48637834 48684985 Gain or loss Pancreas cancer - 20668451 CELSR3,MIR4793,SLC26A6,TMEM89,UQCRC1 chr3 48637834 48684985 Gain or loss Prostate cancer - 20668451 CELSR3,MIR4793,SLC26A6,TMEM89,UQCRC1 chr3 48637835 48684985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELSR3,MIR4793,SLC26A6,TMEM89,UQCRC1 chr3 48637835 48684985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELSR3,MIR4793,SLC26A6,TMEM89,UQCRC1 chr3 48638162 48675352 Gain and loss Pancreatic cancer SNP array 17952125 CELSR3,SLC26A6,TMEM89,UQCRC1 chr3 48644001 48677500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELSR3,SLC26A6,TMEM89,UQCRC1 chr3 48660454 48683370 Amplification or deletion Cancer Array CGH 17440070 CELSR3,MIR4793,SLC26A6 chr3 48672075 48672174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC26A6 chr3 48672658 48762223 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CELSR3,IP6K2,MIR4793,NCKIPSD,SLC26A6 chr3 48675423 48698338 Gain and loss Pancreatic cancer SNP array 17952125 CELSR3,MIR4793 chr3 48676368 48698338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CELSR3,MIR4793 chr3 48676368 48698338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CELSR3,MIR4793 chr3 48677501 48691000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELSR3,MIR4793 chr3 48689473 50405840 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,ARIH2,BSN,BSN-AS2,C3orf45,C3orf62,C3orf71,CACNA2D2,CAMKV,CCDC36,CCDC71,CDHR4,CELSR3,CYB561D2,DAG1,DALRD3,FAM212A,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IMPDH2,IP6K1,IP6K2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,LUST,MIR191,MIR425,MIR4271,MIR5193,MON1A,MST1,MST1R,NAT6,NCKIPSD,NDUFAF3,NICN1,NPRL2,P4HTM,PRKAR2A,QARS,QRICH1,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SLC25A20,SLC38A3,TCTA,TMEM115,TRAIP,TUSC2,UBA7,USP19,USP4,WDR6,ZMYND10 chr3 48691001 48695500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CELSR3 chr3 48700424 48729710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IP6K2,NCKIPSD chr3 48700424 48729710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IP6K2,NCKIPSD chr3 48700441 48729653 Gain and loss Pancreatic cancer SNP array 17952125 IP6K2,NCKIPSD chr3 48745633 48843313 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 IP6K2,PRKAR2A chr3 48760221 48860274 Gain or loss Breast cancer - 20668451 PRKAR2A chr3 48760221 48860274 Gain or loss Cancer - 20668451 PRKAR2A chr3 48760221 48860274 Gain or loss Lung cancer - 20668451 PRKAR2A chr3 48760221 48860274 Gain or loss Ovarian cancer - 20668451 PRKAR2A chr3 48760221 48860274 Gain or loss Pancreas cancer - 20668451 PRKAR2A chr3 48760221 48860274 Gain or loss Prostate cancer - 20668451 PRKAR2A chr3 48762099 48860265 Gain and loss Pancreatic cancer SNP array 17952125 PRKAR2A chr3 48763097 48860274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKAR2A chr3 48763097 48860274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKAR2A chr3 48789 34322934 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANKRD28,ARL8B,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CCR4,CHCHD4,CHL1,CIDEC,CIDECP,CLASP2,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,DAZL,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EMC3,EOMES,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GPD1L,GRIP2,GRM7,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITPR1,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRN1,LSM3,METTL6,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NEK10,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXTR,PDCD6IP,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL15,RPL32,RPUSD3,SATB1,SEC13,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TMPPE,TOP2B,TPRXL,TRIM71,TRNT1,TSEN2,TTLL3,UBE2E1,UBE2E2,UBP1,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZCWPW2,ZFYVE20,ZNF385D,ZNF860 chr3 48789 396794 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CHL1 chr3 48798964 48935373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRKAR2A,SLC25A20 chr3 48801499 49710860 LOH Normal High-resolution SNP genotyping 21211785 AMT,ARIH2,BSN,BSN-AS2,C3orf62,C3orf71,CCDC36,CCDC71,DAG1,DALRD3,GPX1,IMPDH2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MIR191,MIR425,MIR4271,NDUFAF3,NICN1,P4HTM,PRKAR2A,QARS,QRICH1,RHOA,SLC25A20,TCTA,USP19,USP4,WDR6 chr3 48869370 48911333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKAR2A,SLC25A20 chr3 48869370 48911333 Gain and loss Pancreatic cancer SNP array 17952125 PRKAR2A,SLC25A20 chr3 48869370 48911333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKAR2A,SLC25A20 chr3 48888525 48888620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 48906651 48907651 Loss Renal cell carcinoma References 21215367 SLC25A20 chr3 48930714 48931586 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A20 chr3 48930714 48931586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A20 chr3 48931285 48997971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARIH2,C3orf71,SLC25A20 chr3 48931285 48997971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARIH2,C3orf71,SLC25A20 chr3 48931297 48997973 Gain and loss Pancreatic cancer SNP array 17952125 ARIH2,C3orf71,SLC25A20 chr3 4895283 4895386 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 4895283 4895386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 48970477 48970593 Gain and loss Pancreatic cancer SNP array 17952125 ARIH2 chr3 48970477 48970593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARIH2 chr3 48992556 49019181 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARIH2 chr3 49001501 49042000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARIH2,P4HTM chr3 49002323 49019591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARIH2 chr3 49002323 49019591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARIH2 chr3 49002345 49019567 Gain and loss Pancreatic cancer SNP array 17952125 ARIH2 chr3 49009655 49178772 Gain and loss Pancreatic cancer SNP array 17952125 ARIH2,DALRD3,IMPDH2,LAMB2,MIR191,MIR425,NDUFAF3,P4HTM,QARS,QRICH1,USP19,WDR6 chr3 49019696 49028390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARIH2,P4HTM chr3 49019696 49028390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARIH2,P4HTM chr3 49019829 49028386 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ARIH2,P4HTM chr3 49019830 49028390 Gain and loss Pancreatic cancer SNP array 17952125 ARIH2,P4HTM chr3 49027439 49033471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P4HTM chr3 49027439 49033471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HTM chr3 49027928 49033471 Gain and loss Pancreatic cancer SNP array 17952125 P4HTM chr3 49032585 49032671 Deletion Acute myeloid leukemia BAC aCGH 20962326 P4HTM chr3 49032585 49032671 Gain and loss Pancreatic cancer SNP array 17952125 P4HTM chr3 49032585 49032671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HTM chr3 49032912 49035926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P4HTM chr3 49032912 49035926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HTM chr3 49032912 49035928 Gain and loss Pancreatic cancer SNP array 17952125 P4HTM chr3 49033055 49033146 Deletion Acute myeloid leukemia BAC aCGH 20962326 P4HTM chr3 49033055 49033146 Gain and loss Pancreatic cancer SNP array 17952125 P4HTM chr3 49033055 49033146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HTM chr3 49036767 49041832 Gain and loss Pancreatic cancer SNP array 17952125 P4HTM chr3 49036774 49041879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 P4HTM chr3 49036774 49041879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 P4HTM chr3 49042148 49106508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DALRD3,IMPDH2,MIR191,MIR425,NDUFAF3,P4HTM,QRICH1,WDR6 chr3 49042148 49106508 Gain and loss Pancreatic cancer SNP array 17952125 DALRD3,IMPDH2,MIR191,MIR425,NDUFAF3,P4HTM,QRICH1,WDR6 chr3 49042148 49106508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DALRD3,IMPDH2,MIR191,MIR425,NDUFAF3,P4HTM,QRICH1,WDR6 chr3 49062814 49062914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IMPDH2 chr3 49084173 49270159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC36,CCDC71,KLHDC8B,LAMB2,LAMB2P1,LOC646498,QARS,QRICH1,USP19 chr3 49084173 49270159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC36,CCDC71,KLHDC8B,LAMB2,LAMB2P1,LOC646498,QARS,QRICH1,USP19 chr3 49095670 49095967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QRICH1 chr3 49095670 49095969 Gain and loss Pancreatic cancer SNP array 17952125 QRICH1 chr3 49095670 49095969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QRICH1 chr3 49105501 49132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 QRICH1 chr3 49108370 49117176 Gain and loss Pancreatic cancer SNP array 17952125 QRICH1 chr3 49108374 49117194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 QRICH1 chr3 49108374 49117194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QRICH1 chr3 49115736 49115836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 QRICH1 chr3 49120468 49133316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 QRICH1 chr3 49120468 49133316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QRICH1 chr3 49120486 49133217 Copy number Lung cancer - 20668451 QRICH1 chr3 49120486 49133217 Gain or loss Breast cancer - 20668451 QRICH1 chr3 49120486 49133217 Gain or loss Cancer - 20668451 QRICH1 chr3 49120486 49133217 Gain or loss Lung cancer - 20668451 QRICH1 chr3 49120486 49133217 Gain or loss Ovarian cancer - 20668451 QRICH1 chr3 49120486 49133217 Gain or loss Pancreas cancer - 20668451 QRICH1 chr3 49120486 49133217 Gain or loss Prostate cancer - 20668451 QRICH1 chr3 49120568 49133217 Gain and loss Pancreatic cancer SNP array 17952125 QRICH1 chr3 49132501 49146500 Copy number Normal ReadDepth: A Parallel R Package 21305028 QARS,USP19 chr3 49133552 49145603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 QARS,USP19 chr3 49133552 49145603 Gain and loss Pancreatic cancer SNP array 17952125 QARS,USP19 chr3 49133552 49145603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QARS,USP19 chr3 49146501 49183500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAMB2,USP19 chr3 49172754 49173076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 49174973 49178760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 49174973 49178760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 49183501 49190500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LAMB2P1 chr3 49184065 49188922 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 49184072 49188922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 49184072 49188922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 4918652 4954672 Amplification Medulloblastoma Illumina SNP arrays 21163964 LOC100507582 chr3 49190501 49649000 Copy number Normal ReadDepth: A Parallel R Package 21305028 AMT,BSN,BSN-AS2,C3orf62,CCDC36,CCDC71,DAG1,GPX1,KLHDC8B,LAMB2P1,LOC646498,MIR4271,NICN1,RHOA,TCTA,USP4 chr3 49192016 49192084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 49192623 49192723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 49195145 50546998 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,BSN,BSN-AS2,C3orf45,C3orf62,CACNA2D2,CAMKV,CCDC36,CCDC71,CDHR4,CYB561D2,DAG1,FAM212A,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,KLHDC8B,LOC646498,LUST,MIR4271,MIR5193,MON1A,MST1,MST1R,NAT6,NICN1,NPRL2,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SLC38A3,TCTA,TMEM115,TRAIP,TUSC2,UBA7,USP4,ZMYND10 chr3 49211221 49212901 Gain and loss Pancreatic cancer SNP array 17952125 KLHDC8B chr3 49226358 49270159 Gain and loss Pancreatic cancer SNP array 17952125 CCDC36,LOC646498 chr3 49272522 49273748 Gain and loss Pancreatic cancer SNP array 17952125 CCDC36 chr3 49273242 49870328 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,BSN,BSN-AS2,C3orf62,CCDC36,CDHR4,DAG1,FAM212A,GMPPB,GPX1,IP6K1,MIR4271,MIR5193,MST1,NICN1,RHOA,RNF123,TCTA,TRAIP,UBA7,USP4 chr3 49281223 49289456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC36 chr3 49281223 49289456 Gain and loss Pancreatic cancer SNP array 17952125 CCDC36 chr3 49281223 49289456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC36 chr3 49282459 49282561 Gain and loss Pancreatic cancer SNP array 17952125 CCDC36 chr3 49282459 49282561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC36 chr3 49282569 49282674 Gain and loss Pancreatic cancer SNP array 17952125 CCDC36 chr3 49282569 49282676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC36 chr3 49282571 49282676 Gain and loss Pancreatic cancer SNP array 17952125 CCDC36 chr3 49289997 49352519 Copy number Lung cancer - 20668451 C3orf62,CCDC36,MIR4271,USP4 chr3 49289997 49352519 Gain or loss Breast cancer - 20668451 C3orf62,CCDC36,MIR4271,USP4 chr3 49289997 49352519 Gain or loss Cancer - 20668451 C3orf62,CCDC36,MIR4271,USP4 chr3 49289997 49352519 Gain or loss Lung cancer - 20668451 C3orf62,CCDC36,MIR4271,USP4 chr3 49289997 49352519 Gain or loss Ovarian cancer - 20668451 C3orf62,CCDC36,MIR4271,USP4 chr3 49289997 49352519 Gain or loss Pancreas cancer - 20668451 C3orf62,CCDC36,MIR4271,USP4 chr3 49289997 49352519 Gain or loss Prostate cancer - 20668451 C3orf62,CCDC36,MIR4271,USP4 chr3 49290001 49352519 Gain and loss Pancreatic cancer SNP array 17952125 C3orf62,CCDC36,MIR4271,USP4 chr3 49290003 49352519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf62,CCDC36,MIR4271,USP4 chr3 49290003 49352519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf62,CCDC36,MIR4271,USP4 chr3 49339464 49870328 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,BSN,BSN-AS2,CDHR4,DAG1,FAM212A,GMPPB,GPX1,IP6K1,MIR5193,MST1,NICN1,RHOA,RNF123,TCTA,TRAIP,UBA7,USP4 chr3 49339464 50175839 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,BSN,BSN-AS2,CAMKV,CDHR4,DAG1,FAM212A,GMPPB,GPX1,IP6K1,LUST,MIR5193,MON1A,MST1,MST1R,NICN1,RBM5,RBM6,RHOA,RNF123,TCTA,TRAIP,UBA7,USP4 chr3 49339464 50449271 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,BSN,BSN-AS2,C3orf45,CACNA2D2,CAMKV,CDHR4,CYB561D2,DAG1,FAM212A,GMPPB,GNAI2,GNAT1,GPX1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,LUST,MIR5193,MON1A,MST1,MST1R,NAT6,NICN1,NPRL2,RASSF1,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SLC38A3,TCTA,TMEM115,TRAIP,TUSC2,UBA7,USP4,ZMYND10 chr3 49339464 51438259 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,AMT,APEH,BSN,BSN-AS2,C3orf18,C3orf45,CACNA2D2,CAMKV,CDHR4,CISH,CYB561D2,DAG1,DOCK3,FAM212A,GMPPB,GNAI2,GNAT1,GPX1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,LUST,MANF,MAPKAPK3,MIR4787,MIR5193,MON1A,MST1,MST1R,NAT6,NICN1,NPRL2,RASSF1,RBM15B,RBM5,RBM6,RHOA,RNF123,SEMA3B,SEMA3F,SLC38A3,TCTA,TMEM115,TRAIP,TUSC2,UBA7,USP4,VPRBP,ZMYND10 chr3 49339464 52186387 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,AMIGO3,AMT,APEH,BSN,BSN-AS2,C3orf18,C3orf45,C3orf74,CACNA2D2,CAMKV,CDHR4,CISH,CYB561D2,DAG1,DOCK3,DUSP7,FAM212A,GMPPB,GNAI2,GNAT1,GPR62,GPX1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,LUST,MANF,MAPKAPK3,MIR4787,MIR5193,MON1A,MST1,MST1R,NAT6,NICN1,NPRL2,PARP3,PCBP4,POC1A,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RHOA,RNF123,RPL29,RRP9,SEMA3B,SEMA3F,SLC38A3,TCTA,TEX264,TMEM115,TRAIP,TUSC2,UBA7,USP4,VPRBP,ZMYND10 chr3 49346010 49489741 Loss Normal Birdsuite, version 1.5.2 22087296 AMT,GPX1,NICN1,RHOA,TCTA,USP4 chr3 49369612 49370795 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 USP4 chr3 49369617 49370795 Gain and loss Pancreatic cancer SNP array 17952125 USP4 chr3 49369825 49370715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 USP4 chr3 49369825 49370715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 USP4 chr3 49371582 49424530 Gain or loss Breast cancer - 20668451 GPX1,RHOA,USP4 chr3 49371582 49424530 Gain or loss Cancer - 20668451 GPX1,RHOA,USP4 chr3 49371582 49424530 Gain or loss Lung cancer - 20668451 GPX1,RHOA,USP4 chr3 49371582 49424530 Gain or loss Ovarian cancer - 20668451 GPX1,RHOA,USP4 chr3 49371582 49424530 Gain or loss Pancreas cancer - 20668451 GPX1,RHOA,USP4 chr3 49371582 49424530 Gain or loss Prostate cancer - 20668451 GPX1,RHOA,USP4 chr3 49371585 49424530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPX1,RHOA,USP4 chr3 49371585 49424530 Gain and loss Pancreatic cancer SNP array 17952125 GPX1,RHOA,USP4 chr3 49371585 49424530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPX1,RHOA,USP4 chr3 49424643 49428912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOA chr3 49424643 49428912 Gain and loss Pancreatic cancer SNP array 17952125 RHOA chr3 49424643 49428912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOA chr3 49429216 49435016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOA chr3 49429216 49435016 Gain and loss Pancreatic cancer SNP array 17952125 RHOA chr3 49429216 49435016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOA chr3 49434770 49441761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RHOA chr3 49434770 49441761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RHOA chr3 49435384 49441725 Gain and loss Pancreatic cancer SNP array 17952125 RHOA chr3 49441282 49441504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RHOA chr3 49441389 49441489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RHOA chr3 49469281 49469609 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 49479552 49479665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 49479556 49479668 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 49479579 49479668 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 49482569 49548048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DAG1 chr3 49482569 49548048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAG1 chr3 49482595 49548048 Gain and loss Pancreatic cancer SNP array 17952125 DAG1 chr3 49505584 49505683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 49525778 51884070 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 AMIGO3,APEH,BSN,BSN-AS2,C3orf18,C3orf45,CACNA2D2,CAMKV,CDHR4,CISH,CYB561D2,DAG1,DOCK3,FAM212A,GMPPB,GNAI2,GNAT1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,IQCF3,IQCF4,IQCF6,LUST,MANF,MAPKAPK3,MIR4787,MIR5193,MON1A,MST1,MST1R,NAT6,NPRL2,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RNF123,SEMA3B,SEMA3F,SLC38A3,TEX264,TMEM115,TRAIP,TUSC2,UBA7,VPRBP,ZMYND10 chr3 49566926 49683972 Gain and loss Pancreatic cancer SNP array 17952125 BSN,BSN-AS2,DAG1 chr3 49566926 49683985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BSN,BSN-AS2,DAG1 chr3 49566926 49683985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BSN,BSN-AS2,DAG1 chr3 49626003 50151295 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,APEH,BSN,CAMKV,CDHR4,FAM212A,GMPPB,IP6K1,LUST,MIR5193,MON1A,MST1,MST1R,RBM5,RBM6,RNF123,TRAIP,UBA7 chr3 49626003 52954903 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,AMIGO3,APEH,BAP1,BSN,C3orf18,C3orf45,C3orf74,C3orf78,CACNA2D2,CAMKV,CDHR4,CISH,CYB561D2,DNAH1,DOCK3,DUSP7,FAM212A,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GPR62,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,LUST,MANF,MAPKAPK3,MIR135A1,MIR4787,MIR5193,MIRLET7G,MON1A,MST1,MST1R,MUSTN1,NAT6,NEK4,NISCH,NPRL2,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RNF123,RPL29,RRP9,SEMA3B,SEMA3F,SEMA3G,SFMBT1,SLC38A3,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TLR9,TMEM110,TMEM110-MUSTN1,TMEM115,TNNC1,TRAIP,TUSC2,TWF2,UBA7,VPRBP,WDR82,ZMYND10 chr3 49644777 49655591 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 BSN chr3 49649001 49739000 Copy number Normal ReadDepth: A Parallel R Package 21305028 APEH,BSN,MST1,RNF123 chr3 49653206 49653256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BSN chr3 49686439 49695935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BSN chr3 49686439 49695935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BSN chr3 49686439 49695937 Gain and loss Pancreatic cancer SNP array 17952125 BSN chr3 49687490 50219610 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 AMIGO3,APEH,BSN,CAMKV,CDHR4,FAM212A,GMPPB,IP6K1,LUST,MIR5193,MON1A,MST1,MST1R,RBM5,RBM6,RNF123,SEMA3F,TRAIP,UBA7 chr3 49688265 49701847 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BSN chr3 49689793 49702713 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BSN chr3 49692000 49714000 Duplication Non-syndromic sensorineural hearing loss References 19212409 APEH,BSN chr3 49695755 49709630 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 BSN chr3 49696393 49701099 Gain and loss Pancreatic cancer SNP array 17952125 BSN chr3 49696393 49701110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BSN chr3 49696445 49703514 Loss Autism 1M Ailent CGH whole-genome array 21865298 BSN chr3 49701847 51014136 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,APEH,BSN,C3orf18,C3orf45,CACNA2D2,CAMKV,CDHR4,CISH,CYB561D2,DOCK3,FAM212A,GMPPB,GNAI2,GNAT1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,LUST,MAPKAPK3,MIR4787,MIR5193,MON1A,MST1,MST1R,NAT6,NPRL2,RASSF1,RBM5,RBM6,RNF123,SEMA3B,SEMA3F,SLC38A3,TMEM115,TRAIP,TUSC2,UBA7,ZMYND10 chr3 49701974 49733961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APEH,BSN,MST1,RNF123 chr3 49701974 49733961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APEH,BSN,MST1,RNF123 chr3 49701974 49733963 Gain and loss Pancreatic cancer SNP array 17952125 APEH,BSN,MST1,RNF123 chr3 49702713 51014136 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,APEH,BSN,C3orf18,C3orf45,CACNA2D2,CAMKV,CDHR4,CISH,CYB561D2,DOCK3,FAM212A,GMPPB,GNAI2,GNAT1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,LUST,MAPKAPK3,MIR4787,MIR5193,MON1A,MST1,MST1R,NAT6,NPRL2,RASSF1,RBM5,RBM6,RNF123,SEMA3B,SEMA3F,SLC38A3,TMEM115,TRAIP,TUSC2,UBA7,ZMYND10 chr3 49707409 51853718 LOH Normal High-resolution SNP genotyping 21211785 AMIGO3,APEH,BSN,C3orf18,C3orf45,CACNA2D2,CAMKV,CDHR4,CISH,CYB561D2,DOCK3,FAM212A,GMPPB,GNAI2,GNAT1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IP6K1,IQCF4,IQCF6,LUST,MANF,MAPKAPK3,MIR4787,MIR5193,MON1A,MST1,MST1R,NAT6,NPRL2,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RNF123,SEMA3B,SEMA3F,SLC38A3,TEX264,TMEM115,TRAIP,TUSC2,UBA7,VPRBP,ZMYND10 chr3 49710860 49874118 Allelic imbalance Normal High-resolution SNP genotyping 21211785 AMIGO3,APEH,CDHR4,FAM212A,GMPPB,IP6K1,MIR5193,MST1,RNF123,TRAIP,UBA7 chr3 49729281 49736353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF123 chr3 49729281 49736353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF123 chr3 49730388 49731959 Gain and loss Pancreatic cancer SNP array 17952125 RNF123 chr3 49733936 49736388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF123 chr3 49733936 49736388 Gain and loss Pancreatic cancer SNP array 17952125 RNF123 chr3 49733936 49736388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF123 chr3 49736732 49798970 Gain and loss Pancreatic cancer SNP array 17952125 AMIGO3,GMPPB,IP6K1,RNF123 chr3 49736732 49798977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AMIGO3,GMPPB,IP6K1,RNF123 chr3 49736732 49798977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AMIGO3,GMPPB,IP6K1,RNF123 chr3 49739001 49740500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNF123 chr3 49798501 49815000 Copy number Normal ReadDepth: A Parallel R Package 21305028 IP6K1 chr3 49810669 49812272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IP6K1 chr3 49810669 49812272 Gain and loss Pancreatic cancer SNP array 17952125 IP6K1 chr3 49810669 49812272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IP6K1 chr3 49815001 49826500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IP6K1 chr3 49815691 49817465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IP6K1 chr3 49815691 49817465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IP6K1 chr3 49815691 49817467 Gain and loss Pancreatic cancer SNP array 17952125 IP6K1 chr3 49817643 49826395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IP6K1 chr3 49817643 49826395 Gain and loss Pancreatic cancer SNP array 17952125 IP6K1 chr3 49817643 49826395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IP6K1 chr3 49826501 49841000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CDHR4,FAM212A chr3 49841001 49843500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM212A,UBA7 chr3 49841031 49868996 Gain or loss Breast cancer - 20668451 FAM212A,MIR5193,TRAIP,UBA7 chr3 49841031 49868996 Gain or loss Cancer - 20668451 FAM212A,MIR5193,TRAIP,UBA7 chr3 49841031 49868996 Gain or loss Lung cancer - 20668451 FAM212A,MIR5193,TRAIP,UBA7 chr3 49841031 49868996 Gain or loss Ovarian cancer - 20668451 FAM212A,MIR5193,TRAIP,UBA7 chr3 49841031 49868996 Gain or loss Pancreas cancer - 20668451 FAM212A,MIR5193,TRAIP,UBA7 chr3 49841031 49868996 Gain or loss Prostate cancer - 20668451 FAM212A,MIR5193,TRAIP,UBA7 chr3 49841032 49868996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM212A,MIR5193,TRAIP,UBA7 chr3 49841032 49868996 Gain and loss Pancreatic cancer SNP array 17952125 FAM212A,MIR5193,TRAIP,UBA7 chr3 49841032 49868996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM212A,MIR5193,TRAIP,UBA7 chr3 49843501 49852000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR5193,UBA7 chr3 49852001 49857000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 49868501 49924500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAMKV,MST1R,TRAIP chr3 49870426 49882373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAIP chr3 49870426 49882373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAIP chr3 49870432 49882373 Gain and loss Pancreatic cancer SNP array 17952125 TRAIP chr3 49874118 50405840 LOH Normal High-resolution SNP genotyping 21211785 C3orf45,CACNA2D2,CAMKV,CYB561D2,GNAI2,GNAT1,HYAL1,HYAL2,HYAL3,IFRD2,LUST,MON1A,MST1R,NAT6,NPRL2,RASSF1,RBM5,RBM6,SEMA3B,SEMA3F,SLC38A3,TMEM115,TRAIP,TUSC2,ZMYND10 chr3 49875812 49876097 Gain and loss Pancreatic cancer SNP array 17952125 TRAIP chr3 49875821 49876097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAIP chr3 49899439 49916310 Copy number Lung cancer - 20668451 CAMKV chr3 49899439 49916310 Gain or loss Breast cancer - 20668451 CAMKV chr3 49899439 49916310 Gain or loss Cancer - 20668451 CAMKV chr3 49899439 49916310 Gain or loss Lung cancer - 20668451 CAMKV chr3 49899439 49916310 Gain or loss Ovarian cancer - 20668451 CAMKV chr3 49899439 49916310 Gain or loss Pancreas cancer - 20668451 CAMKV chr3 49899439 49916310 Gain or loss Prostate cancer - 20668451 CAMKV chr3 49899444 49916074 Gain and loss Pancreatic cancer SNP array 17952125 CAMKV chr3 49899444 49916310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMKV chr3 49899444 49916310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMKV chr3 49921312 49942261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MST1R chr3 49921312 49942261 Gain and loss Pancreatic cancer SNP array 17952125 MST1R chr3 49921312 49942261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MST1R chr3 49952481 50089685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MON1A,RBM6 chr3 49952481 50089685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MON1A,RBM6 chr3 49952525 50089685 Gain and loss Pancreatic cancer SNP array 17952125 MON1A,RBM6 chr3 49952596 49955297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MON1A chr3 49952596 49955297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MON1A chr3 4996208 5001861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 4996208 5001861 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 4996208 5001861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 49962456 49962908 Gain and loss Pancreatic cancer SNP array 17952125 MON1A chr3 49962456 49962908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MON1A chr3 49979135 52234715 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,C3orf18,C3orf45,C3orf74,CACNA2D2,CISH,CYB561D2,DOCK3,DUSP7,GNAI2,GNAT1,GPR62,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,LUST,MANF,MAPKAPK3,MIR4787,NAT6,NPRL2,PARP3,PCBP4,POC1A,RAD54L2,RASSF1,RBM15B,RBM5,RBM6,RPL29,RRP9,SEMA3B,SEMA3F,SLC38A3,TEX264,TMEM115,TUSC2,VPRBP,ZMYND10 chr3 49980743 49981158 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 RBM6 chr3 49984737 50064794 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBM6 chr3 50013272 50046882 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RBM6 chr3 50028514 51051868 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 C3orf18,C3orf45,CACNA2D2,CISH,CYB561D2,DOCK3,GNAI2,GNAT1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,LUST,MAPKAPK3,MIR4787,NAT6,NPRL2,RASSF1,RBM5,RBM6,SEMA3B,SEMA3F,SLC38A3,TMEM115,TUSC2,ZMYND10 chr3 50098421 50197697 Gain Autism qPCR,Affy500K (proband) 20531469 LUST,RBM5,RBM6,SEMA3F chr3 50098753 50099817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RBM6 chr3 50101219 50404286 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 C3orf45,CACNA2D2,CYB561D2,GNAI2,GNAT1,HYAL1,HYAL2,HYAL3,IFRD2,LUST,NAT6,NPRL2,RASSF1,RBM5,RBM6,SEMA3B,SEMA3F,SLC38A3,TMEM115,TUSC2,ZMYND10 chr3 50101372 50131392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM5,RBM6 chr3 50101372 50131392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM5,RBM6 chr3 50101372 50131394 Gain and loss Pancreatic cancer SNP array 17952125 RBM5,RBM6 chr3 50133001 50631000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf18,C3orf45,CACNA2D2,CYB561D2,GNAI2,GNAT1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,LUST,NAT6,NPRL2,RASSF1,RBM5,SEMA3B,SEMA3F,SLC38A3,TMEM115,TUSC2,ZMYND10 chr3 50167528 50201509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA3F chr3 50167528 50201509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA3F chr3 50167852 50201511 Gain and loss Pancreatic cancer SNP array 17952125 SEMA3F chr3 50173482 50346381 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C3orf45,GNAI2,GNAT1,HYAL1,HYAL3,IFRD2,NAT6,SEMA3B,SEMA3F,SLC38A3 chr3 50185763 50185856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 50190003 51897402 LOH Normal High-resolution SNP genotyping 21211785 C3orf18,C3orf45,CACNA2D2,CISH,CYB561D2,DOCK3,GNAI2,GNAT1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IQCF2,IQCF3,IQCF4,IQCF6,MANF,MAPKAPK3,MIR4787,NAT6,NPRL2,RAD54L2,RASSF1,RBM15B,SEMA3B,SEMA3F,SLC38A3,TEX264,TMEM115,TUSC2,VPRBP,ZMYND10 chr3 50190003 51901519 LOH Normal High-resolution SNP genotyping 21211785 C3orf18,C3orf45,CACNA2D2,CISH,CYB561D2,DOCK3,GNAI2,GNAT1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IQCF2,IQCF3,IQCF4,IQCF6,MANF,MAPKAPK3,MIR4787,NAT6,NPRL2,RAD54L2,RASSF1,RBM15B,SEMA3B,SEMA3F,SLC38A3,TEX264,TMEM115,TUSC2,VPRBP,ZMYND10 chr3 50190003 53133080 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf18,C3orf45,C3orf74,C3orf78,CACNA2D2,CISH,CYB561D2,DNAH1,DOCK3,DUSP7,GLT8D1,GLYCTK,GNAI2,GNAT1,GNL3,GPR62,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MANF,MAPKAPK3,MIR135A1,MIR4787,MIRLET7G,MUSTN1,NAT6,NEK4,NISCH,NPRL2,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RAD54L2,RASSF1,RBM15B,RFT1,RPL29,RRP9,SEMA3B,SEMA3F,SEMA3G,SFMBT1,SLC38A3,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TLR9,TMEM110,TMEM110-MUSTN1,TMEM115,TNNC1,TUSC2,TWF2,VPRBP,WDR82,ZMYND10 chr3 50204047 50208953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA3F chr3 50204047 50208953 Gain and loss Pancreatic cancer SNP array 17952125 SEMA3F chr3 50204047 50208953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA3F chr3 50217696 50233404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAT1,SEMA3F chr3 50217696 50233404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAT1,SEMA3F chr3 50217952 51887762 LOH Normal High-resolution SNP genotyping 21211785 C3orf18,C3orf45,CACNA2D2,CISH,CYB561D2,DOCK3,GNAI2,GNAT1,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IQCF3,IQCF4,IQCF6,MANF,MAPKAPK3,MIR4787,NAT6,NPRL2,RAD54L2,RASSF1,RBM15B,SEMA3B,SEMA3F,SLC38A3,TEX264,TMEM115,TUSC2,VPRBP,ZMYND10 chr3 50219804 50219863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEMA3F chr3 50224023 53705103 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf18,C3orf45,C3orf74,C3orf78,CACNA1D,CACNA2D2,CISH,CYB561D2,DCP1A,DNAH1,DOCK3,DUSP7,GLT8D1,GLYCTK,GNAI2,GNAT1,GNL3,GPR62,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MANF,MAPKAPK3,MIR135A1,MIR4787,MIRLET7G,MUSTN1,NAT6,NEK4,NISCH,NPRL2,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RAD54L2,RASSF1,RBM15B,RFT1,RPL29,RRP9,SEMA3B,SEMA3F,SEMA3G,SFMBT1,SLC38A3,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TMEM115,TNNC1,TUSC2,TWF2,VPRBP,WDR82,ZMYND10 chr3 50226637 50233406 Gain and loss Pancreatic cancer SNP array 17952125 GNAT1 chr3 50226695 50272364 Allelic imbalance Normal High-resolution SNP genotyping 21211785 GNAT1,SLC38A3 chr3 50239173 50271775 Gain and loss Pancreatic cancer SNP array 17952125 SLC38A3 chr3 50248640 50271775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC38A3 chr3 50248640 50271775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A3 chr3 50252155 50252272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC38A3 chr3 50269460 53142998 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf18,C3orf45,C3orf74,C3orf78,CACNA2D2,CISH,CYB561D2,DNAH1,DOCK3,DUSP7,GLT8D1,GLYCTK,GNAI2,GNL3,GPR62,GRM2,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MANF,MAPKAPK3,MIR135A1,MIR4787,MIRLET7G,MUSTN1,NAT6,NEK4,NISCH,NPRL2,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RAD54L2,RASSF1,RBM15B,RFT1,RPL29,RRP9,SEMA3B,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TLR9,TMEM110,TMEM110-MUSTN1,TMEM115,TNNC1,TUSC2,TWF2,VPRBP,WDR82,ZMYND10 chr3 50270166 50270266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 50271216 50271294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 50280044 50289574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAI2 chr3 50280044 50289574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAI2 chr3 50281442 50289575 Gain and loss Pancreatic cancer SNP array 17952125 GNAI2 chr3 50287997 50288050 Gain Autism 1M Ailent CGH whole-genome array 21865298 GNAI2 chr3 50291522 50300548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GNAI2 chr3 50291522 50300548 Gain and loss Pancreatic cancer SNP array 17952125 GNAI2 chr3 50291522 50300548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GNAI2 chr3 50300178 50311903 Gain and loss Pancreatic cancer SNP array 17952125 SEMA3B chr3 50300192 50305353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA3B chr3 50300192 50305353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA3B chr3 50305266 50311903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA3B chr3 50305266 50311903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA3B chr3 50308615 50343224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C3orf45,HYAL1,HYAL3,IFRD2,NAT6,SEMA3B chr3 50308838 50311716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SEMA3B chr3 50308838 50311716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEMA3B chr3 50312325 50316008 Gain and loss Pancreatic cancer SNP array 17952125 SEMA3B chr3 50312325 50324816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf45,SEMA3B chr3 50312325 50324816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf45,SEMA3B chr3 50317228 50523899 Gain Normal Birdsuite, version 1.5.2 22087296 C3orf45,CACNA2D2,CYB561D2,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,TMEM115,TUSC2,ZMYND10 chr3 50318470 50324352 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 C3orf45 chr3 50326231 50337284 Loss Neuroblastoma References 19638189 HYAL3,IFRD2,NAT6 chr3 50330225 50335217 Gain and loss Pancreatic cancer SNP array 17952125 HYAL3,NAT6 chr3 50330244 50335146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HYAL3,NAT6 chr3 50330244 50335146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYAL3,NAT6 chr3 50337345 50340672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HYAL1 chr3 50337345 50340672 Gain and loss Pancreatic cancer SNP array 17952125 HYAL1 chr3 50337345 50340672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYAL1 chr3 50342221 50353371 Gain and loss Pancreatic cancer SNP array 17952125 HYAL1 chr3 50342221 50353385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HYAL1 chr3 50342221 50353385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYAL1 chr3 50353550 50359287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HYAL2 chr3 50353550 50359287 Gain and loss Pancreatic cancer SNP array 17952125 HYAL2 chr3 50353550 50359287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYAL2 chr3 50359923 50363490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HYAL2,TUSC2 chr3 50359923 50363490 Gain and loss Pancreatic cancer SNP array 17952125 HYAL2,TUSC2 chr3 50359923 50363490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HYAL2,TUSC2 chr3 50363301 50366477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TUSC2 chr3 50363301 50366477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TUSC2 chr3 50363301 50366498 Gain and loss Pancreatic cancer SNP array 17952125 TUSC2 chr3 50367184 50371943 Gain and loss Pancreatic cancer SNP array 17952125 RASSF1 chr3 50367186 50371943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RASSF1 chr3 50367186 50371943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RASSF1 chr3 50367216 50378367 Copy number Non-small cell lung cancer Real-Time PCR 20193080 RASSF1 chr3 50375237 50516032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D2,CYB561D2,NPRL2,RASSF1,TMEM115,ZMYND10 chr3 50375237 50516032 Gain and loss Pancreatic cancer SNP array 17952125 CACNA2D2,CYB561D2,NPRL2,RASSF1,TMEM115,ZMYND10 chr3 50375237 50516032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D2,CYB561D2,NPRL2,RASSF1,TMEM115,ZMYND10 chr3 50384918 50388486 Copy number Non-small cell lung cancer Real-Time PCR 20193080 CYB561D2,NPRL2 chr3 50405840 75594348 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD6,ACOX2,ACTR8,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,BAP1,C3orf14,C3orf18,C3orf49,C3orf67,C3orf74,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,CHDH,CISH,CNTN3,DCP1A,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,EBLN2,EIF4E3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM86DP,FEZF2,FHIT,FLNB,FOXP1,FRMD4B,GLT8D1,GLYCTK,GNL3,GPR27,GPR62,GRM2,GXYLT2,HEMK1,HESX1,IL17RB,IL17RD,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC201617,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MANF,MAPKAPK3,MIR1284,MIR135A1,MIR3136,MIR3938,MIR4272,MIR4444-1,MIR4787,MIR548A2,MIRLET7G,MITF,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PDE12,PDHB,PDZRN3,PHF7,POC1A,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PROK2,PSMD6,PSMD6-AS2,PTPRG,PXK,RAD54L2,RBM15B,RFT1,RPL29,RPP14,RRP9,RYBP,SELK,SEMA3G,SFMBT1,SHQ1,SLC25A26,SLMAP,SNORD19,SNORD19B,SNORD69,SNTN,SPATA12,SPCS1,STAB1,SUCLG2,SYNPR,SYNPR-AS1,TEX264,THOC7,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TMF1,TNNC1,TWF2,UBA3,VPRBP,WDR82,WNT5A chr3 50408650 50408720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D2 chr3 50427712 50427803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D2 chr3 50432216 50432334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D2 chr3 50432217 50432334 Gain and loss Pancreatic cancer SNP array 17952125 CACNA2D2 chr3 50432217 50432336 Gain and loss Pancreatic cancer SNP array 17952125 CACNA2D2 chr3 50453087 50453187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D2 chr3 50457334 50457414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D2 chr3 50479012 50479091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D2 chr3 50492517 50492612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D2 chr3 50534257 50566030 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA2D2 chr3 5053774 5053874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 50570467 50580186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 50570467 50580186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 50570467 50583426 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 5057955 5126637 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr3 50581913 50597426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf18 chr3 50581913 50597426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf18 chr3 50581992 50597370 Gain and loss Pancreatic cancer SNP array 17952125 C3orf18 chr3 50600000 54400000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf18,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,CISH,DCP1A,DNAH1,DOCK3,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,HEMK1,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MANF,MAPKAPK3,MIR135A1,MIR4787,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RAD54L2,RBM15B,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,VPRBP,WDR82 chr3 50618925 50624207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HEMK1 chr3 50618925 50624207 Gain and loss Pancreatic cancer SNP array 17952125 HEMK1 chr3 50618925 50624207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HEMK1 chr3 50618929 50624207 Gain or loss Breast cancer - 20668451 HEMK1 chr3 50618929 50624207 Gain or loss Cancer - 20668451 HEMK1 chr3 50618929 50624207 Gain or loss Lung cancer - 20668451 HEMK1 chr3 50618929 50624207 Gain or loss Ovarian cancer - 20668451 HEMK1 chr3 50618929 50624207 Gain or loss Pancreas cancer - 20668451 HEMK1 chr3 50618929 50624207 Gain or loss Prostate cancer - 20668451 HEMK1 chr3 50619570 50619649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEMK1 chr3 50620272 50620332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HEMK1 chr3 50624342 50661723 Deletion Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 CISH,MAPKAPK3 chr3 50624342 50661723 Gain or loss Breast cancer - 20668451 CISH,MAPKAPK3 chr3 50624342 50661723 Gain or loss Cancer - 20668451 CISH,MAPKAPK3 chr3 50624342 50661723 Gain or loss Lung cancer - 20668451 CISH,MAPKAPK3 chr3 50624342 50661723 Gain or loss Ovarian cancer - 20668451 CISH,MAPKAPK3 chr3 50624342 50661723 Gain or loss Pancreas cancer - 20668451 CISH,MAPKAPK3 chr3 50624342 50661723 Gain or loss Prostate cancer - 20668451 CISH,MAPKAPK3 chr3 50624343 50661724 Gain and loss Pancreatic cancer SNP array 17952125 CISH,MAPKAPK3 chr3 50629605 50661723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CISH,MAPKAPK3 chr3 50629605 50661723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CISH,MAPKAPK3 chr3 50631001 50673500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CISH,MAPKAPK3 chr3 50637468 50670594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CISH,MAPKAPK3 chr3 50653920 52539982 Loss Bladder cancer array-CGH 21909424 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,DNAH1,DOCK3,DUSP7,GLYCTK,GPR62,GRM2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,MANF,MAPKAPK3,MIR135A1,MIR4787,MIRLET7G,NISCH,PARP3,PCBP4,PHF7,POC1A,PPM1M,RAD54L2,RBM15B,RPL29,RRP9,SEMA3G,STAB1,TEX264,TLR9,TNNC1,TWF2,VPRBP,WDR82 chr3 50666837 51874295 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-435K arrays 21546498 DOCK3,GRM2,IQCF3,IQCF4,IQCF6,MANF,MAPKAPK3,MIR4787,RAD54L2,RBM15B,TEX264,VPRBP chr3 50667036 50681395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAPKAPK3 chr3 50687676 51396669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK3,MIR4787 chr3 50687676 51396669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK3,MIR4787 chr3 50731917 50732387 Gain and loss Pancreatic cancer SNP array 17952125 DOCK3 chr3 50731917 50732405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK3 chr3 50791106 51394030 Gain and loss Pancreatic cancer SNP array 17952125 DOCK3 chr3 50799219 50799500 Gain and loss Pancreatic cancer SNP array 17952125 DOCK3 chr3 50799219 50799500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK3 chr3 50816001 50819000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DOCK3 chr3 50846910 58424157 Duplication Intellectual disability Array CGH 22102821 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD6,ACTR8,ACY1,ALAS1,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CCDC66,CHDH,DCP1A,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,ERC2,ERC2-IT1,ESRG,FAM116A,FAM208A,FLNB,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,HESX1,IL17RB,IL17RD,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,LRTM1,MANF,MIR135A1,MIR3938,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PDE12,PDHB,PHF7,POC1A,PPM1M,PRKCD,PXK,RAD54L2,RBM15B,RFT1,RPL29,RPP14,RRP9,SELK,SEMA3G,SFMBT1,SLMAP,SNORD19,SNORD19B,SNORD69,SPATA12,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,VPRBP,WDR82,WNT5A chr3 50879013 50879166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK3 chr3 50879157 50879384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK3 chr3 50879176 50879276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK3 chr3 50949653 50949749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK3 chr3 50979143 50979344 Gain and loss Pancreatic cancer SNP array 17952125 DOCK3 chr3 50979143 50979344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK3 chr3 51014136 51123891 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DOCK3 chr3 5102863 5102964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 5102865 5102964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 51117223 51117323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK3 chr3 51123891 51897402 LOH Normal High-resolution SNP genotyping 21211785 DOCK3,GRM2,IQCF2,IQCF3,IQCF4,IQCF6,MANF,RAD54L2,RBM15B,TEX264,VPRBP chr3 51123891 51901519 LOH Normal High-resolution SNP genotyping 21211785 DOCK3,GRM2,IQCF2,IQCF3,IQCF4,IQCF6,MANF,RAD54L2,RBM15B,TEX264,VPRBP chr3 51143483 51143535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK3 chr3 51184098 51184198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK3 chr3 5124604 5124687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 51329164 53568451 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,DCP1A,DNAH1,DOCK3,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MANF,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RAD54L2,RBM15B,RFT1,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,VPRBP,WDR82 chr3 51376302 51376375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DOCK3 chr3 5138048 5138148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 5138929 5197601 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ARL8B chr3 5138930 5197597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL8B chr3 5138930 5197597 Gain and loss Pancreatic cancer SNP array 17952125 ARL8B chr3 5138930 5197597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL8B chr3 51392001 51406500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DOCK3 chr3 51397538 51401815 Gain and loss Pancreatic cancer SNP array 17952125 DOCK3 chr3 51397742 51401815 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 DOCK3 chr3 51397743 51401815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK3 chr3 51397743 51401815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK3 chr3 51400000 51700000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 DOCK3,MANF,RAD54L2,RBM15B,VPRBP chr3 51400000 54400000 Copy number Septo-optic dysplasia Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,DOCK3,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MANF,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RAD54L2,RBM15B,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,VPRBP,WDR82 chr3 51400000 54400000 Deletion Biliary cancer Array CGH 19435499 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,DOCK3,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MANF,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RAD54L2,RBM15B,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,VPRBP,WDR82 chr3 51400000 71800000 Copy number Squamous cell cancer aCGH 20885788 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD6,ACOX2,ACTR8,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,BAP1,C3orf14,C3orf49,C3orf67,C3orf74,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,CHDH,DCP1A,DNAH1,DNAH12,DNASE1L3,DOCK3,DUSP7,EIF4E3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,FOXP1,FRMD4B,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,HESX1,IL17RB,IL17RD,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MANF,MIR1284,MIR135A1,MIR3136,MIR3938,MIR4272,MIR548A2,MIRLET7G,MITF,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PDE12,PDHB,PHF7,POC1A,PPM1M,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PSMD6,PSMD6-AS2,PTPRG,PXK,RAD54L2,RBM15B,RFT1,RPL29,RPP14,RRP9,SELK,SEMA3G,SFMBT1,SLC25A26,SLMAP,SNORD19,SNORD19B,SNORD69,SNTN,SPATA12,SPCS1,STAB1,SUCLG2,SYNPR,SYNPR-AS1,TEX264,THOC7,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TMF1,TNNC1,TWF2,UBA3,VPRBP,WDR82,WNT5A chr3 51403770 51410376 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 DOCK3 chr3 51403771 51410370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK3 chr3 51403771 51410370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK3 chr3 51404333 51410370 Gain and loss Pancreatic cancer SNP array 17952125 DOCK3 chr3 51408338 51492884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DOCK3,MANF,RBM15B,VPRBP chr3 51408338 51492884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DOCK3,MANF,RBM15B,VPRBP chr3 51408339 51505823 Gain and loss Pancreatic cancer SNP array 17952125 DOCK3,MANF,RBM15B,VPRBP chr3 51414830 51449416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DOCK3,MANF,RBM15B,VPRBP chr3 51428848 51452516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RBM15B,VPRBP chr3 51437556 51437656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPRBP chr3 51472751 51494836 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 VPRBP chr3 51509868 51509943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VPRBP chr3 51533155 54020380 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CHDH,DCP1A,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RAD54L2,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,VPRBP,WDR82 chr3 51550636 51672650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD54L2 chr3 51614420 51614509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD54L2 chr3 51620494 51620618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD54L2 chr3 51620495 51620613 Gain and loss Pancreatic cancer SNP array 17952125 RAD54L2 chr3 51620495 51620613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD54L2 chr3 51636716 51672650 Gain and loss Pancreatic cancer SNP array 17952125 RAD54L2 chr3 51642794 51642853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD54L2 chr3 51667208 52254614 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,C3orf74,DUSP7,GPR62,GRM2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,PARP3,PCBP4,POC1A,RAD54L2,RPL29,RRP9,TEX264 chr3 51673481 51673581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD54L2 chr3 51677001 51728500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RAD54L2,TEX264 chr3 51679364 51679443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD54L2 chr3 51680288 51713377 Gain and loss Pancreatic cancer SNP array 17952125 RAD54L2,TEX264 chr3 51680319 51713377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD54L2,TEX264 chr3 51680319 51713377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD54L2,TEX264 chr3 51700000 54400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51700000 54400000 Deletion Biliary cancer Array CGH 19435499 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51700000 54400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51700000 54400000 Loss Renal cell carcinoma References 19461508 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51700000 54400000 Loss Urothelial cell carcinoma FISH 18451213 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51700000 54400000 Loss Ventriculomegaly Agilent 400 K CNV array 21325761 ABHD14A,ABHD14A-ACY1,ABHD14B,ACTR8,ACY1,ALAS1,BAP1,C3orf74,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,GRM2,IL17RB,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TEX264,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51700000 74200000 Loss Breast cancer Array CGH 16608533 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD6,ACOX2,ACTR8,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,BAP1,C3orf14,C3orf49,C3orf67,C3orf74,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,CHDH,DCP1A,DNAH1,DNAH12,DNASE1L3,DUSP7,EBLN2,EIF4E3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,FOXP1,FRMD4B,GLT8D1,GLYCTK,GNL3,GPR27,GPR62,GRM2,GXYLT2,HESX1,IL17RB,IL17RD,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,ITIH1,ITIH3,ITIH4,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC201617,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR1284,MIR135A1,MIR3136,MIR3938,MIR4272,MIR548A2,MIRLET7G,MITF,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PDE12,PDHB,PDZRN3,PHF7,POC1A,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PROK2,PSMD6,PSMD6-AS2,PTPRG,PXK,RFT1,RPL29,RPP14,RRP9,RYBP,SELK,SEMA3G,SFMBT1,SHQ1,SLC25A26,SLMAP,SNORD19,SNORD19B,SNORD69,SNTN,SPATA12,SPCS1,STAB1,SUCLG2,SYNPR,SYNPR-AS1,TEX264,THOC7,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TMF1,TNNC1,TWF2,UBA3,WDR82,WNT5A chr3 51703519 51703638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 51703521 51703638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 51703521 51703638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51716127 51727665 Gain or loss Breast cancer - 20668451 TEX264 chr3 51716127 51727665 Gain or loss Cancer - 20668451 TEX264 chr3 51716127 51727665 Gain or loss Lung cancer - 20668451 TEX264 chr3 51716127 51727665 Gain or loss Ovarian cancer - 20668451 TEX264 chr3 51716127 51727665 Gain or loss Pancreas cancer - 20668451 TEX264 chr3 51716127 51727665 Gain or loss Prostate cancer - 20668451 TEX264 chr3 51716146 51727663 Gain and loss Pancreatic cancer SNP array 17952125 TEX264 chr3 51716148 51727663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TEX264 chr3 51716148 51727663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX264 chr3 51728666 51728816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TEX264 chr3 51734036 51734116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TEX264 chr3 51739291 51739364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 5177902 5178002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARL8B chr3 51787691 51788540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51818837 51912391 Gain and loss Pancreatic cancer SNP array 17952125 IQCF2,IQCF3,IQCF4,IQCF5 chr3 51818837 51912426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IQCF2,IQCF3,IQCF4,IQCF5 chr3 51818837 51912426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IQCF2,IQCF3,IQCF4,IQCF5 chr3 51843523 51843623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 51852979 51886097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IQCF3,IQCF4 chr3 51869017 51872299 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 51870685 51872480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51870685 51872480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 51870685 51872480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51880507 51880572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 51881261 51881507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51881307 51881520 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 51881307 51881520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51882891 51886181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51882891 51886181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51883123 52807900 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,IQCF1,IQCF2,IQCF5,MIR135A1,MIRLET7G,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RPL29,RRP9,SEMA3G,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TNNC1,TWF2,WDR82 chr3 51883123 53156170 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,IQCF1,IQCF2,IQCF5,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RFT1,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51917046 53206996 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,IQCF1,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51927747 52442277 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,DNAH1,DUSP7,GLYCTK,GPR62,IQCF1,MIR135A1,MIRLET7G,PARP3,PCBP4,POC1A,PPM1M,RPL29,RRP9,TLR9,TWF2,WDR82 chr3 51927747 53001650 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,IQCF1,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51927747 53179178 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,IQCF1,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RFT1,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51927747 53234056 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,IQCF1,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51941501 52086000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,DUSP7,GPR62,PARP3,PCBP4,RPL29,RRP9 chr3 51942486 51950962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51942486 51950962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51942487 51950980 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 51943368 53156170 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RFT1,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51943368 53179178 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,RFT1,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51943368 53234056 LOH Normal High-resolution SNP genotyping 21211785 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,BAP1,C3orf74,C3orf78,DNAH1,DUSP7,GLT8D1,GLYCTK,GNL3,GPR62,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PARP3,PBRM1,PCBP4,PHF7,POC1A,PPM1M,PRKCD,RFT1,RPL29,RRP9,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 51951400 51957923 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 51951400 51957923 Gain or loss Cancer - 20668451 NOT_FOUND chr3 51951400 51957923 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 51951400 51957923 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 51951400 51957923 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 51951400 51957923 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 51951401 51957923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51951401 51957923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51951415 51957918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 51964437 51966549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51964437 51966549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 51964437 51966559 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 51966514 51976509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARP3,RRP9 chr3 51966514 51976509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARP3,RRP9 chr3 51966515 51976509 Gain and loss Pancreatic cancer SNP array 17952125 PARP3,RRP9 chr3 51977572 51983117 Gain and loss Pancreatic cancer SNP array 17952125 PARP3 chr3 51977574 51983117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PARP3 chr3 51977574 51983117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PARP3 chr3 51984124 51990250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR62 chr3 51984124 51990250 Gain and loss Pancreatic cancer SNP array 17952125 GPR62 chr3 51984124 51990250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR62 chr3 51992603 51998258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCBP4 chr3 51992603 51998258 Gain and loss Pancreatic cancer SNP array 17952125 PCBP4 chr3 51992603 51998258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCBP4 chr3 52002683 52004998 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 ABHD14B chr3 52002685 52004998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD14B chr3 52002685 52004998 Gain and loss Pancreatic cancer SNP array 17952125 ABHD14B chr3 52002685 52004998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD14B chr3 5204227 5204982 Gain and loss Pancreatic cancer SNP array 17952125 ARL8B chr3 5204358 5236649 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 ARL8B,EDEM1 chr3 5204433 5236642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL8B,EDEM1 chr3 5204433 5236642 Gain and loss Pancreatic cancer SNP array 17952125 ARL8B,EDEM1 chr3 5204433 5236642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL8B,EDEM1 chr3 52048387 52048470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 52059444 52065133 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 52059444 52065269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52059444 52065269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52059798 52065329 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 52059798 52065329 Gain or loss Cancer - 20668451 NOT_FOUND chr3 52059798 52065329 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 52059798 52065329 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 52059798 52065329 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 52059798 52065329 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 52072116 52072607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52073794 52073882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 52084310 52163460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf74,DUSP7,POC1A chr3 52084310 52163460 Gain and loss Pancreatic cancer SNP array 17952125 C3orf74,DUSP7,POC1A chr3 52084310 52163460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf74,DUSP7,POC1A chr3 52086001 52227500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf74,DUSP7,POC1A chr3 52094045 53001650 LOH Normal High-resolution SNP genotyping 21211785 ALAS1,BAP1,C3orf74,C3orf78,DNAH1,GLT8D1,GLYCTK,GNL3,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PHF7,POC1A,PPM1M,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 5212926 5212961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARL8B chr3 52189495 53520383 LOH Normal High-resolution SNP genotyping 21211785 ALAS1,BAP1,C3orf78,DCP1A,DNAH1,GLT8D1,GLYCTK,GNL3,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PHF7,PPM1M,PRKCD,RFT1,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 52200000 131500000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 ABHD10,ABHD6,ABI3BP,ABTB1,ACAD9,ACOX2,ACTR8,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARL13B,ARL6,ARL6IP5,ASB14,ASTE1,ATG3,ATP2C1,ATP6V1A,ATXN7,B4GALT4,BAP1,BBX,BOC,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf37,C3orf38,C3orf49,C3orf52,C3orf67,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CASR,CBLB,CCDC14,CCDC37,CCDC48,CCDC54,CCDC58,CCDC66,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHST13,CLDND1,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COPG1,COX17,CPNE4,CPOX,CRYBG3,CSTA,DCBLD2,DCP1A,DHFRL1,DIRC2,DNAH1,DNAH12,DNAJB8,DNAJB8-AS1,DNASE1L3,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,EBLN2,EEFSEC,EFCAB12,EIF4E3,EOGT,EPHA3,EPHA6,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM162A,FAM172BP,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM86DP,FAM86HP,FAM86JP,FBXO40,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLNB,FOXP1,FRG2C,FRMD4B,FSTL1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GLT8D1,GLYCTK,GNL3,GOLGB1,GP9,GPR128,GPR15,GPR156,GPR27,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HESX1,HGD,HHLA2,HSPBAP1,HTR1F,IFT122,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,ILDR1,IMPG2,IQCB1,ISY1,ISY1-RAB43,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KBTBD12,KBTBD8,KCTD6,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100287879,LOC100302640,LOC100506994,LOC100507032,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC339874,LOC344595,LOC401074,LOC440970,LOC653712,LOC90246,LRIG1,LRRC58,LRTM1,LSAMP,LSAMP-AS3,MAATS1,MAGI1,MAGI1-AS1,MBD4,MCM2,MGLL,MINA,MIR1284,MIR1324,MIR135A1,MIR198,MIR3136,MIR3921,MIR3938,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4795,MIR4796,MIR5002,MIR5092,MIR548A2,MIR548A3,MIR548G,MIR548I1,MIR567,MIR568,MIR5688,MIRLET7G,MITF,MORC1,MRPL3,MUC13,MUSTN1,MYH15,MYLK,MYLK-AS1,NAA50,NDUFB4,NEK11,NEK4,NFKBIZ,NISCH,NIT2,NR1I2,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,PARP14,PARP15,PARP9,PBRM1,PCNP,PDE12,PDHB,PDIA5,PDZRN3,PHF7,PHLDB2,PIK3R4,PLA1A,PLCXD2,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PROK2,PROS1,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PVRL3,PVRL3-AS1,PXK,QTRTD1,RAB43,RAB7A,RABL3,RETNLB,RFT1,RHO,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL24,RPL32P3,RPN1,RPP14,RUVBL1,RYBP,SEC22A,SEC61A1,SELK,SEMA3G,SEMA5B,SENP7,SFMBT1,SHQ1,SIDT1,SLC12A8,SLC15A2,SLC25A26,SLC35A5,SLC41A3,SLC9C1,SLMAP,SNORA58,SNORA7B,SNORD19,SNORD19B,SNORD69,SNTN,SNX4,SPATA12,SPCS1,SPICE1,ST3GAL6,ST3GAL6-AS1,STAB1,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TFG,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMCC1,TMEM110,TMEM110-MUSTN1,TMEM30C,TMEM39A,TMEM45A,TMF1,TMPRSS7,TNNC1,TOMM70A,TPRA1,TRAT1,TRH,TRMT10C,TWF2,TXNRD3,TXNRD3NB,UBA3,UMPS,UPK1B,UROC1,VGLL3,WDR52,WDR52-AS1,WDR5B,WDR82,WNT5A,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 52200000 131500000 Gain Prostate cancer Illumina 1M-Duo bead arrays 21965145 ABHD10,ABHD6,ABI3BP,ABTB1,ACAD9,ACOX2,ACTR8,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARL13B,ARL6,ARL6IP5,ASB14,ASTE1,ATG3,ATP2C1,ATP6V1A,ATXN7,B4GALT4,BAP1,BBX,BOC,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf37,C3orf38,C3orf49,C3orf52,C3orf67,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CASR,CBLB,CCDC14,CCDC37,CCDC48,CCDC54,CCDC58,CCDC66,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHST13,CLDND1,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COPG1,COX17,CPNE4,CPOX,CRYBG3,CSTA,DCBLD2,DCP1A,DHFRL1,DIRC2,DNAH1,DNAH12,DNAJB8,DNAJB8-AS1,DNASE1L3,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,EBLN2,EEFSEC,EFCAB12,EIF4E3,EOGT,EPHA3,EPHA6,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM162A,FAM172BP,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM86DP,FAM86HP,FAM86JP,FBXO40,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLNB,FOXP1,FRG2C,FRMD4B,FSTL1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GLT8D1,GLYCTK,GNL3,GOLGB1,GP9,GPR128,GPR15,GPR156,GPR27,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HESX1,HGD,HHLA2,HSPBAP1,HTR1F,IFT122,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,ILDR1,IMPG2,IQCB1,ISY1,ISY1-RAB43,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KBTBD12,KBTBD8,KCTD6,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100287879,LOC100302640,LOC100506994,LOC100507032,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC339874,LOC344595,LOC401074,LOC440970,LOC653712,LOC90246,LRIG1,LRRC58,LRTM1,LSAMP,LSAMP-AS3,MAATS1,MAGI1,MAGI1-AS1,MBD4,MCM2,MGLL,MINA,MIR1284,MIR1324,MIR135A1,MIR198,MIR3136,MIR3921,MIR3938,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4795,MIR4796,MIR5002,MIR5092,MIR548A2,MIR548A3,MIR548G,MIR548I1,MIR567,MIR568,MIR5688,MIRLET7G,MITF,MORC1,MRPL3,MUC13,MUSTN1,MYH15,MYLK,MYLK-AS1,NAA50,NDUFB4,NEK11,NEK4,NFKBIZ,NISCH,NIT2,NR1I2,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,PARP14,PARP15,PARP9,PBRM1,PCNP,PDE12,PDHB,PDIA5,PDZRN3,PHF7,PHLDB2,PIK3R4,PLA1A,PLCXD2,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PROK2,PROS1,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PVRL3,PVRL3-AS1,PXK,QTRTD1,RAB43,RAB7A,RABL3,RETNLB,RFT1,RHO,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL24,RPL32P3,RPN1,RPP14,RUVBL1,RYBP,SEC22A,SEC61A1,SELK,SEMA3G,SEMA5B,SENP7,SFMBT1,SHQ1,SIDT1,SLC12A8,SLC15A2,SLC25A26,SLC35A5,SLC41A3,SLC9C1,SLMAP,SNORA58,SNORA7B,SNORD19,SNORD19B,SNORD69,SNTN,SNX4,SPATA12,SPCS1,SPICE1,ST3GAL6,ST3GAL6-AS1,STAB1,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TFG,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMCC1,TMEM110,TMEM110-MUSTN1,TMEM30C,TMEM39A,TMEM45A,TMF1,TMPRSS7,TNNC1,TOMM70A,TPRA1,TRAT1,TRH,TRMT10C,TWF2,TXNRD3,TXNRD3NB,UBA3,UMPS,UPK1B,UROC1,VGLL3,WDR52,WDR52-AS1,WDR5B,WDR82,WNT5A,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 52200000 140400000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 A4GNT,ABHD10,ABHD6,ABI3BP,ABTB1,ACAD11,ACAD9,ACOX2,ACPP,ACTR8,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARL13B,ARL6,ARL6IP5,ARMC8,ASB14,ASTE1,ATG3,ATP2C1,ATP6V1A,ATXN7,B4GALT4,BAP1,BBX,BFSP2,BOC,BPESC1,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf38,C3orf49,C3orf52,C3orf67,C3orf72,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CASR,CBLB,CCDC14,CCDC37,CCDC48,CCDC54,CCDC58,CCDC66,CCDC80,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHST13,CLDN18,CLDND1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COPB2,COPG1,COX17,CPNE4,CPOX,CRYBG3,CSTA,DBR1,DCBLD2,DCP1A,DHFRL1,DIRC2,DNAH1,DNAH12,DNAJB8,DNAJB8-AS1,DNAJC13,DNASE1L3,DPPA2,DPPA4,DRD3,DTX3L,DZIP1L,DZIP3,EAF2,EBLN2,EEFSEC,EFCAB12,EIF4E3,EOGT,EPHA3,EPHA6,EPHB1,ERC2,ERC2-IT1,ESRG,ESYT3,FAIM,FAM107A,FAM116A,FAM162A,FAM172BP,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM86DP,FAM86HP,FAM86JP,FBXO40,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLNB,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GLT8D1,GLYCTK,GNL3,GOLGB1,GP9,GPR128,GPR15,GPR156,GPR27,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HESX1,HGD,HHLA2,HSPBAP1,HTR1F,IFT122,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,IL20RB,ILDR1,IMPG2,IQCB1,ISY1,ISY1-RAB43,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KBTBD12,KBTBD8,KCTD6,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,KY,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100287879,LOC100302640,LOC100506994,LOC100507032,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC339874,LOC344595,LOC401074,LOC440970,LOC653712,LOC90246,LRIG1,LRRC58,LRTM1,LSAMP,LSAMP-AS3,MAATS1,MAGI1,MAGI1-AS1,MBD4,MCM2,MGLL,MINA,MIR1284,MIR1324,MIR135A1,MIR198,MIR3136,MIR3921,MIR3938,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4795,MIR4796,MIR5002,MIR5092,MIR548A2,MIR548A3,MIR548G,MIR548I1,MIR567,MIR568,MIR5688,MIR5704,MIRLET7G,MITF,MORC1,MRAS,MRPL3,MRPS22,MSL2,MUC13,MUSTN1,MYH15,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NEK4,NFKBIZ,NISCH,NIT2,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,PARP14,PARP15,PARP9,PBRM1,PCCB,PCNP,PDE12,PDHB,PDIA5,PDZRN3,PHF7,PHLDB2,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCXD2,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PVRL3,PVRL3-AS1,PXK,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RBP1,RBP2,RETNLB,RFT1,RHO,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL24,RPL32P3,RPN1,RPP14,RUVBL1,RYBP,RYK,SEC22A,SEC61A1,SELK,SEMA3G,SEMA5B,SENP7,SFMBT1,SHQ1,SIDT1,SLC12A8,SLC15A2,SLC25A26,SLC35A5,SLC35G2,SLC41A3,SLC9C1,SLCO2A1,SLMAP,SNORA58,SNORA7B,SNORD19,SNORD19B,SNORD69,SNTN,SNX4,SOX14,SPATA12,SPCS1,SPICE1,SRPRB,ST3GAL6,ST3GAL6-AS1,STAB1,STAG1,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TF,TFG,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM30C,TMEM39A,TMEM45A,TMF1,TMPRSS7,TNNC1,TOMM70A,TOPBP1,TPRA1,TRAT1,TRH,TRIM42,TRMT10C,TWF2,TXNRD3,TXNRD3NB,UBA3,UBA5,UMPS,UPK1B,UROC1,VGLL3,WDR52,WDR52-AS1,WDR5B,WDR82,WNT5A,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 52200000 144400000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 A4GNT,ABHD10,ABHD6,ABI3BP,ABTB1,ACAD11,ACAD9,ACOX2,ACPL2,ACPP,ACTR8,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARL13B,ARL6,ARL6IP5,ARMC8,ASB14,ASTE1,ATG3,ATP1B3,ATP2C1,ATP6V1A,ATR,ATXN7,B4GALT4,BAP1,BBX,BFSP2,BOC,BPESC1,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf38,C3orf49,C3orf52,C3orf58,C3orf67,C3orf72,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CASR,CBLB,CCDC14,CCDC37,CCDC48,CCDC54,CCDC58,CCDC66,CCDC80,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHST13,CHST2,CLDN18,CLDND1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COPB2,COPG1,COX17,CPNE4,CPOX,CRYBG3,CSTA,DBR1,DCBLD2,DCP1A,DHFRL1,DIRC2,DNAH1,DNAH12,DNAJB8,DNAJB8-AS1,DNAJC13,DNASE1L3,DPPA2,DPPA4,DRD3,DTX3L,DZIP1L,DZIP3,EAF2,EBLN2,EEFSEC,EFCAB12,EIF4E3,EOGT,EPHA3,EPHA6,EPHB1,ERC2,ERC2-IT1,ESRG,ESYT3,FAIM,FAM107A,FAM116A,FAM162A,FAM172BP,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM86DP,FAM86HP,FAM86JP,FBXO40,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLNB,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GK5,GLT8D1,GLYCTK,GNL3,GOLGB1,GP9,GPR128,GPR15,GPR156,GPR27,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HESX1,HGD,HHLA2,HSPBAP1,HTR1F,IFT122,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,IL20RB,ILDR1,IMPG2,IQCB1,ISY1,ISY1-RAB43,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KBTBD12,KBTBD8,KCTD6,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,KY,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100287879,LOC100289361,LOC100302640,LOC100506994,LOC100507032,LOC100507389,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC339874,LOC344595,LOC401074,LOC440970,LOC653712,LOC90246,LRIG1,LRRC58,LRTM1,LSAMP,LSAMP-AS3,MAATS1,MAGI1,MAGI1-AS1,MBD4,MCM2,MGLL,MINA,MIR1284,MIR1324,MIR135A1,MIR198,MIR3136,MIR3921,MIR3938,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4795,MIR4796,MIR5002,MIR5092,MIR548A2,MIR548A3,MIR548G,MIR548I1,MIR567,MIR568,MIR5688,MIR5704,MIRLET7G,MITF,MORC1,MRAS,MRPL3,MRPS22,MSL2,MUC13,MUSTN1,MYH15,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NEK4,NFKBIZ,NISCH,NIT2,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,PAQR9,PARP14,PARP15,PARP9,PBRM1,PCCB,PCNP,PCOLCE2,PDE12,PDHB,PDIA5,PDZRN3,PHF7,PHLDB2,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCXD2,PLS1,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PVRL3,PVRL3-AS1,PXK,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RASA2,RBP1,RBP2,RETNLB,RFT1,RHO,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL24,RPL32P3,RPN1,RPP14,RUVBL1,RYBP,RYK,SEC22A,SEC61A1,SELK,SEMA3G,SEMA5B,SENP7,SFMBT1,SHQ1,SIDT1,SLC12A8,SLC15A2,SLC25A26,SLC25A36,SLC35A5,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLMAP,SNORA58,SNORA7B,SNORD19,SNORD19B,SNORD69,SNTN,SNX4,SOX14,SPATA12,SPCS1,SPICE1,SPSB4,SRPRB,ST3GAL6,ST3GAL6-AS1,STAB1,STAG1,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TF,TFDP2,TFG,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM30C,TMEM39A,TMEM45A,TMF1,TMPRSS7,TNNC1,TOMM70A,TOPBP1,TPRA1,TRAT1,TRH,TRIM42,TRMT10C,TRPC1,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UMPS,UPK1B,UROC1,VGLL3,WDR52,WDR52-AS1,WDR5B,WDR82,WNT5A,XRN1,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZNF148,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 52200000 144400000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 A4GNT,ABHD10,ABHD6,ABI3BP,ABTB1,ACAD11,ACAD9,ACOX2,ACPL2,ACPP,ACTR8,ADAMTS9,ADAMTS9-AS2,ADCY5,ADPRH,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF3,ARHGEF3-AS1,ARL13B,ARL6,ARL6IP5,ARMC8,ASB14,ASTE1,ATG3,ATP1B3,ATP2C1,ATP6V1A,ATR,ATXN7,B4GALT4,BAP1,BBX,BFSP2,BOC,BPESC1,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf38,C3orf49,C3orf52,C3orf58,C3orf67,C3orf72,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CASR,CBLB,CCDC14,CCDC37,CCDC48,CCDC54,CCDC58,CCDC66,CCDC80,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHST13,CHST2,CLDN18,CLDND1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COPB2,COPG1,COX17,CPNE4,CPOX,CRYBG3,CSTA,DBR1,DCBLD2,DCP1A,DHFRL1,DIRC2,DNAH1,DNAH12,DNAJB8,DNAJB8-AS1,DNAJC13,DNASE1L3,DPPA2,DPPA4,DRD3,DTX3L,DZIP1L,DZIP3,EAF2,EBLN2,EEFSEC,EFCAB12,EIF4E3,EOGT,EPHA3,EPHA6,EPHB1,ERC2,ERC2-IT1,ESRG,ESYT3,FAIM,FAM107A,FAM116A,FAM162A,FAM172BP,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM86DP,FAM86HP,FAM86JP,FBXO40,FEZF2,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLNB,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GK5,GLT8D1,GLYCTK,GNL3,GOLGB1,GP9,GPR128,GPR15,GPR156,GPR27,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HESX1,HGD,HHLA2,HSPBAP1,HTR1F,IFT122,IFT57,IGSF11,IGSF11-AS1,IL17RB,IL17RD,IL20RB,ILDR1,IMPG2,IQCB1,ISY1,ISY1-RAB43,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KBTBD12,KBTBD8,KCTD6,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,KY,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100129550,LOC100287879,LOC100289361,LOC100302640,LOC100506994,LOC100507032,LOC100507389,LOC152225,LOC201617,LOC255025,LOC285359,LOC285401,LOC339874,LOC344595,LOC401074,LOC440970,LOC653712,LOC90246,LRIG1,LRRC58,LRTM1,LSAMP,LSAMP-AS3,MAATS1,MAGI1,MAGI1-AS1,MBD4,MCM2,MGLL,MINA,MIR1284,MIR1324,MIR135A1,MIR198,MIR3136,MIR3921,MIR3938,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4795,MIR4796,MIR5002,MIR5092,MIR548A2,MIR548A3,MIR548G,MIR548I1,MIR567,MIR568,MIR5688,MIR5704,MIRLET7G,MITF,MORC1,MRAS,MRPL3,MRPS22,MSL2,MUC13,MUSTN1,MYH15,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NEK4,NFKBIZ,NISCH,NIT2,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,PAQR9,PARP14,PARP15,PARP9,PBRM1,PCCB,PCNP,PCOLCE2,PDE12,PDHB,PDIA5,PDZRN3,PHF7,PHLDB2,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCXD2,PLS1,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,POU1F1,PPM1M,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PVRL3,PVRL3-AS1,PXK,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RASA2,RBP1,RBP2,RETNLB,RFT1,RHO,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL24,RPL32P3,RPN1,RPP14,RUVBL1,RYBP,RYK,SEC22A,SEC61A1,SELK,SEMA3G,SEMA5B,SENP7,SFMBT1,SHQ1,SIDT1,SLC12A8,SLC15A2,SLC25A26,SLC25A36,SLC35A5,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLMAP,SNORA58,SNORA7B,SNORD19,SNORD19B,SNORD69,SNTN,SNX4,SOX14,SPATA12,SPCS1,SPICE1,SPSB4,SRPRB,ST3GAL6,ST3GAL6-AS1,STAB1,STAG1,STX19,STXBP5L,SUCLG2,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TF,TFDP2,TFG,THOC7,TIGIT,TIMMDC1,TKT,TLR9,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM30C,TMEM39A,TMEM45A,TMF1,TMPRSS7,TNNC1,TOMM70A,TOPBP1,TPRA1,TRAT1,TRH,TRIM42,TRMT10C,TRPC1,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UMPS,UPK1B,UROC1,VGLL3,WDR52,WDR52-AS1,WDR5B,WDR82,WNT5A,XRN1,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZNF148,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 52200000 199501827 Copy number Squamous cell cancer aCGH 20885788 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD6,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARL13B,ARL14,ARL6,ARL6IP5,ARMC8,ASB14,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,ATXN7,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf38,C3orf43,C3orf49,C3orf52,C3orf55,C3orf58,C3orf65,C3orf67,C3orf70,C3orf72,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC66,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,EOGT,EPHA3,EPHA6,EPHB1,EPHB3,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FEZF2,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GLT8D1,GLYCTK,GMNC,GMPS,GNB4,GNL3,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HESX1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RD,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KBTBD12,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100287879,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC285401,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LRTM1,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR1284,MIR1324,MIR135A1,MIR15B,MIR16-2,MIR198,MIR3136,MIR3919,MIR3921,MIR3938,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4789,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A2,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MIRLET7G,MITF,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MUSTN1,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NEK4,NFKBIZ,NISCH,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PBRM1,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RFT1,RHO,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYBP,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELK,SELT,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SFMBT1,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A26,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAG1,STX19,STXBP5L,SUCLG2,SUCNR1,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THOC7,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMF1,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VGLL3,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR82,WNT5A,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 52200000 199501827 Gain Glioblastoma multiforme conventional CGH 21080181 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD6,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTR8,ACTRT3,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALAS1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARL13B,ARL14,ARL6,ARL6IP5,ARMC8,ASB14,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,ATXN7,B3GALNT1,B3GNT5,B4GALT4,BAP1,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf38,C3orf43,C3orf49,C3orf52,C3orf55,C3orf58,C3orf65,C3orf67,C3orf70,C3orf72,C3orf78,C3orf79,C3orf80,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC66,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHDH,CHMP2B,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCP1A,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAH1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,EOGT,EPHA3,EPHA6,EPHB1,EPHB3,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FEZF2,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GLT8D1,GLYCTK,GMNC,GMPS,GNB4,GNL3,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HESX1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RB,IL17RD,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,ITIH1,ITIH3,ITIH4,KALRN,KBTBD12,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100287879,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC285401,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LRTM1,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR1284,MIR1324,MIR135A1,MIR15B,MIR16-2,MIR198,MIR3136,MIR3919,MIR3921,MIR3938,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4789,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A2,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MIRLET7G,MITF,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MUSTN1,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NEK4,NFKBIZ,NISCH,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NT5DC2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PBRM1,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFN2,PHC3,PHF7,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PPM1L,PPM1M,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RFT1,RHO,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYBP,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELK,SELT,SEMA3G,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SFMBT1,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A26,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD19,SNORD19B,SNORD2,SNORD66,SNORD69,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPCS1,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAB1,STAG1,STX19,STXBP5L,SUCLG2,SUCNR1,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THOC7,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TKT,TLR9,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM110,TMEM110-MUSTN1,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMF1,TMPRSS7,TNFSF10,TNIK,TNK2,TNNC1,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TWF2,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VGLL3,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WDR82,WNT5A,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 52202226 52202684 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 52207156 52223383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52207156 52223383 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 52207156 52223383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52227501 52258500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ALAS1,TLR9 chr3 52230137 52248223 Gain or loss Breast cancer - 20668451 ALAS1 chr3 52230137 52248223 Gain or loss Cancer - 20668451 ALAS1 chr3 52230137 52248223 Gain or loss Lung cancer - 20668451 ALAS1 chr3 52230137 52248223 Gain or loss Ovarian cancer - 20668451 ALAS1 chr3 52230137 52248223 Gain or loss Pancreas cancer - 20668451 ALAS1 chr3 52230137 52248223 Gain or loss Prostate cancer - 20668451 ALAS1 chr3 52230138 52235219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALAS1 chr3 52230138 52235219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALAS1 chr3 52230138 52248223 Gain and loss Pancreatic cancer SNP array 17952125 ALAS1 chr3 52236289 53629062 LOH Normal High-resolution SNP genotyping 21211785 ALAS1,BAP1,C3orf78,CACNA1D,DCP1A,DNAH1,GLT8D1,GLYCTK,GNL3,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PHF7,PPM1M,PRKCD,RFT1,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TKT,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 52237670 52248223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALAS1 chr3 52237670 52248223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALAS1 chr3 52244061 53142998 LOH Normal High-resolution SNP genotyping 21211785 ALAS1,BAP1,C3orf78,DNAH1,GLT8D1,GLYCTK,GNL3,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PHF7,PPM1M,RFT1,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TLR9,TMEM110,TMEM110-MUSTN1,TNNC1,TWF2,WDR82 chr3 52254954 52259651 Gain and loss Pancreatic cancer SNP array 17952125 TLR9 chr3 52255226 52259653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLR9 chr3 52255226 52259653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLR9 chr3 52263478 52287699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1M,TWF2 chr3 52264016 52287441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPM1M,TWF2 chr3 52264016 52287441 Gain and loss Pancreatic cancer SNP array 17952125 PPM1M,TWF2 chr3 52264016 52287441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPM1M,TWF2 chr3 52272495 52272595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TWF2 chr3 52277332 52277419 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 52277332 52277419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52277334 52277417 Deletion Acute myeloid leukemia BAC aCGH 20962326 NOT_FOUND chr3 52277334 52277417 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 52296876 52302533 Gain and loss Pancreatic cancer SNP array 17952125 MIRLET7G,WDR82 chr3 52296912 52302532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIRLET7G,WDR82 chr3 52296912 52302532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIRLET7G,WDR82 chr3 52299001 52302000 Copy number Normal ReadDepth: A Parallel R Package 21305028 WDR82 chr3 52300000 54400000 Copy number Neuroblastoma QPCR 19686582 ACTR8,BAP1,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,GLT8D1,GLYCTK,GNL3,IL17RB,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PHF7,PRKCD,RFT1,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TKT,TMEM110,TMEM110-MUSTN1,TNNC1,WDR82 chr3 52300000 54400000 Deletion Lung cancer CGH 16618734 ACTR8,BAP1,C3orf78,CACNA1D,CACNA2D3,CHDH,DCP1A,DNAH1,GLT8D1,GLYCTK,GNL3,IL17RB,ITIH1,ITIH3,ITIH4,MIR135A1,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PHF7,PRKCD,RFT1,SELK,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TKT,TMEM110,TMEM110-MUSTN1,TNNC1,WDR82 chr3 52300000 58600000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ABHD6,ACOX2,ACTR8,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,BAP1,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CCDC66,CHDH,DCP1A,DNAH1,DNAH12,DNASE1L3,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM208A,FLNB,GLT8D1,GLYCTK,GNL3,HESX1,IL17RB,IL17RD,ITIH1,ITIH3,ITIH4,KCTD6,LRTM1,MIR135A1,MIR3938,MIRLET7G,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PDE12,PDHB,PHF7,PRKCD,PXK,RFT1,RPP14,SELK,SEMA3G,SFMBT1,SLMAP,SNORD19,SNORD19B,SNORD69,SPATA12,SPCS1,STAB1,TKT,TMEM110,TMEM110-MUSTN1,TNNC1,WDR82,WNT5A chr3 52302001 52332500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GLYCTK,MIR135A1,MIRLET7G,WDR82 chr3 52303275 52303364 Gain and loss Pancreatic cancer SNP array 17952125 WDR82 chr3 52303275 52303364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR82 chr3 52325560 52409547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH1,GLYCTK,MIR135A1 chr3 52325560 52409547 Gain and loss Pancreatic cancer SNP array 17952125 DNAH1,GLYCTK,MIR135A1 chr3 52325560 52409547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH1,GLYCTK,MIR135A1 chr3 52332501 52337000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 52337001 52354000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH1 chr3 52350942 52380619 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DNAH1 chr3 52354001 52413000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH1 chr3 5235444 5235445 Deletion Medulloblastoma Illumina SNP arrays 21163964 EDEM1 chr3 52357027 52357100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH1 chr3 52383702 52383793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH1 chr3 52410064 52419049 Gain or loss Breast cancer - 20668451 DNAH1 chr3 52410064 52419049 Gain or loss Cancer - 20668451 DNAH1 chr3 52410064 52419049 Gain or loss Lung cancer - 20668451 DNAH1 chr3 52410064 52419049 Gain or loss Ovarian cancer - 20668451 DNAH1 chr3 52410064 52419049 Gain or loss Pancreas cancer - 20668451 DNAH1 chr3 52410064 52419049 Gain or loss Prostate cancer - 20668451 DNAH1 chr3 52410067 52419049 Gain and loss Pancreatic cancer SNP array 17952125 DNAH1 chr3 52410069 52419058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH1 chr3 52410069 52419058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH1 chr3 52413001 52420000 Copy number Normal ReadDepth: A Parallel R Package 21305028 DNAH1 chr3 52416786 52416866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAH1 chr3 52419567 52432696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH1 chr3 52419567 52432696 Gain and loss Pancreatic cancer SNP array 17952125 DNAH1 chr3 52419567 52432696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH1 chr3 52432656 53876467 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 BAP1,C3orf78,CACNA1D,CHDH,DCP1A,DNAH1,GLT8D1,GNL3,ITIH1,ITIH3,ITIH4,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PHF7,PRKCD,RFT1,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TKT,TMEM110,TMEM110-MUSTN1,TNNC1 chr3 52438001 52443500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BAP1 chr3 52442307 52454083 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 BAP1,PHF7 chr3 52442308 52454083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BAP1,PHF7 chr3 52442308 52454083 Gain and loss Pancreatic cancer SNP array 17952125 BAP1,PHF7 chr3 52442308 52454083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BAP1,PHF7 chr3 52442362 53049386 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BAP1,C3orf78,GLT8D1,GNL3,ITIH1,ITIH3,ITIH4,MUSTN1,NEK4,NISCH,NT5DC2,PBRM1,PHF7,SEMA3G,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TMEM110,TMEM110-MUSTN1,TNNC1 chr3 52443501 52463500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BAP1,PHF7 chr3 52460158 52463098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52460158 52463098 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 52460158 52463098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52463501 52497000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NISCH,SEMA3G,TNNC1 chr3 52464174 52502124 Gain and loss Pancreatic cancer SNP array 17952125 NISCH,SEMA3G,TNNC1 chr3 52464564 52502127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NISCH,SEMA3G,TNNC1 chr3 52464564 52502127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NISCH,SEMA3G,TNNC1 chr3 52472229 52504252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NISCH,SEMA3G,TNNC1 chr3 52481339 52481439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 52497001 52546500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NISCH,STAB1 chr3 52504396 52533549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NISCH,STAB1 chr3 52504396 52533549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NISCH,STAB1 chr3 52504411 52533549 Gain and loss Pancreatic cancer SNP array 17952125 NISCH,STAB1 chr3 52505587 52539504 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NISCH,STAB1 chr3 52528178 75594348 Copy number gain Normal High-resolution SNP genotyping 21211785 ABHD6,ACOX2,ACTR8,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,C3orf78,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,CHDH,CNTN3,DCP1A,DNAH12,DNASE1L3,EBLN2,EIF4E3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM86DP,FEZF2,FHIT,FLNB,FOXP1,FRMD4B,GLT8D1,GNL3,GPR27,GXYLT2,HESX1,IL17RB,IL17RD,ITIH1,ITIH3,ITIH4,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC201617,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR3938,MIR4272,MIR4444-1,MIR548A2,MITF,MUSTN1,NEK4,NT5DC2,PBRM1,PDE12,PDHB,PDZRN3,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PROK2,PSMD6,PSMD6-AS2,PTPRG,PXK,RFT1,RPP14,RYBP,SELK,SFMBT1,SHQ1,SLC25A26,SLMAP,SNORD19,SNORD19B,SNORD69,SNTN,SPATA12,SPCS1,STAB1,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TKT,TMEM110,TMEM110-MUSTN1,TMF1,UBA3,WNT5A chr3 52533443 52544114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAB1 chr3 52533443 52544114 Gain and loss Pancreatic cancer SNP array 17952125 STAB1 chr3 52533443 52544114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAB1 chr3 52538869 52538963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STAB1 chr3 52545661 52549584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STAB1 chr3 52545661 52549584 Gain and loss Pancreatic cancer SNP array 17952125 STAB1 chr3 52545661 52549584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STAB1 chr3 52553461 53142998 LOH Normal High-resolution SNP genotyping 21211785 C3orf78,GLT8D1,GNL3,ITIH1,ITIH3,ITIH4,MUSTN1,NEK4,NT5DC2,PBRM1,RFT1,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TMEM110,TMEM110-MUSTN1 chr3 52553461 53156170 LOH Normal High-resolution SNP genotyping 21211785 C3orf78,GLT8D1,GNL3,ITIH1,ITIH3,ITIH4,MUSTN1,NEK4,NT5DC2,PBRM1,RFT1,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,STAB1,TMEM110,TMEM110-MUSTN1 chr3 52554423 52694892 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf78,NT5DC2,PBRM1,STAB1 chr3 52554423 52694892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf78,NT5DC2,PBRM1,STAB1 chr3 52557046 52688770 Gain and loss Pancreatic cancer SNP array 17952125 C3orf78,NT5DC2,PBRM1,STAB1 chr3 52569626 52569763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52572542 52572542 Copy number Prostate cancer Illumina GA II sequencer 21307934 C3orf78 chr3 52581257 52636697 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PBRM1 chr3 5261967 5262055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 52664233 52664304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PBRM1 chr3 52684878 52685212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PBRM1 chr3 52693320 54778198 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ACTR8,CACNA1D,CACNA2D3,CHDH,DCP1A,ESRG,GLT8D1,GNL3,IL17RB,ITIH1,ITIH3,ITIH4,MUSTN1,NEK4,PBRM1,PRKCD,RFT1,SELK,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,TKT,TMEM110,TMEM110-MUSTN1 chr3 52694976 52703548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 52694976 52703548 Gain and loss Pancreatic cancer SNP array 17952125 PBRM1 chr3 52694976 52703548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 5269611 5269908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 5269611 5269908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 5269613 5269908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 52698304 52698371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 52700434 52700509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 52701792 52701868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 52703548 52714584 Gain and loss Pancreatic cancer SNP array 17952125 PBRM1 chr3 52703548 52715088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 52703548 52715088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 52714896 52717237 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 PBRM1 chr3 52714897 52717249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 52714897 52717249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PBRM1 chr3 52715166 52717222 Gain and loss Pancreatic cancer SNP array 17952125 PBRM1 chr3 52719840 52779991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLT8D1,GNL3,NEK4,PBRM1,SNORD19,SNORD19B,SNORD69,SPCS1 chr3 52719840 52779991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLT8D1,GNL3,NEK4,PBRM1,SNORD19,SNORD19B,SNORD69,SPCS1 chr3 52720543 53444674 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 DCP1A,GLT8D1,GNL3,ITIH1,ITIH3,ITIH4,MUSTN1,NEK4,PRKCD,RFT1,SFMBT1,SNORD19,SNORD19B,SNORD69,SPCS1,TKT,TMEM110,TMEM110-MUSTN1 chr3 52720833 52779995 Gain and loss Pancreatic cancer SNP array 17952125 GLT8D1,GNL3,NEK4,SNORD19,SNORD19B,SNORD69,SPCS1 chr3 52786648 52801117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEK4 chr3 52786648 52801117 Gain and loss Pancreatic cancer SNP array 17952125 NEK4 chr3 52786648 52801117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK4 chr3 52793001 52845500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITIH1,ITIH3,NEK4 chr3 52803824 52818065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITIH1,NEK4 chr3 52803824 52818065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITIH1,NEK4 chr3 52803851 52817851 Gain and loss Pancreatic cancer SNP array 17952125 ITIH1,NEK4 chr3 52808871 52841171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ITIH1,ITIH3 chr3 52822046 52839734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITIH1,ITIH3 chr3 52822046 52839734 Gain and loss Pancreatic cancer SNP array 17952125 ITIH1,ITIH3 chr3 52822046 52839734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITIH1,ITIH3 chr3 52830864 52830964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITIH3 chr3 52842179 52906587 Gain and loss Pancreatic cancer SNP array 17952125 ITIH3,ITIH4,MUSTN1,TMEM110,TMEM110-MUSTN1 chr3 52842206 52906652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ITIH3,ITIH4,MUSTN1,TMEM110,TMEM110-MUSTN1 chr3 52842206 52906652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ITIH3,ITIH4,MUSTN1,TMEM110,TMEM110-MUSTN1 chr3 52845501 52859500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ITIH4 chr3 52848267 52848351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ITIH4 chr3 52870927 52871027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM110,TMEM110-MUSTN1 chr3 52878586 52878686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TMEM110,TMEM110-MUSTN1 chr3 52913668 53055066 Gain and loss Pancreatic cancer SNP array 17952125 SFMBT1,TMEM110,TMEM110-MUSTN1 chr3 52913668 53055110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SFMBT1,TMEM110,TMEM110-MUSTN1 chr3 52913668 53055110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SFMBT1,TMEM110,TMEM110-MUSTN1 chr3 52978699 53026103 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SFMBT1 chr3 52997448 53009568 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SFMBT1 chr3 52998240 53014244 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 SFMBT1 chr3 53001650 53022381 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 SFMBT1 chr3 53001650 53022381 Total allelic loss Normal High-resolution SNP genotyping 21211785 SFMBT1 chr3 53002187 53013928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SFMBT1 chr3 5300251 5302500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 53002575 53013087 Substitutions and indels small cell lung cancer array-CGH 20016488 SFMBT1 chr3 53003023 53013826 Deletion Medulloblastoma Illumina SNP arrays 21163964 SFMBT1 chr3 53003415 53006776 Loss Normal Birdsuite, version 1.5.2 22087296 SFMBT1 chr3 53003415 53014717 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SFMBT1 chr3 53006776 53014319 Loss Normal Birdsuite, version 1.5.2 22087296 SFMBT1 chr3 53014319 53016559 Loss Normal Birdsuite, version 1.5.2 22087296 SFMBT1 chr3 53016559 53016925 Loss Normal Birdsuite, version 1.5.2 22087296 SFMBT1 chr3 53018247 68809971 Substitutions and indels small cell lung cancer array-CGH 20016488 ABHD6,ACOX2,ACTR8,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,CACNA1D,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,CHDH,DCP1A,DNAH12,DNASE1L3,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,HESX1,IL17RB,IL17RD,KBTBD8,KCTD6,LOC100287879,LOC100506994,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR3938,MIR4272,MIR548A2,PDE12,PDHB,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCD,PSMD6,PSMD6-AS2,PTPRG,PXK,RFT1,RPP14,SELK,SFMBT1,SLC25A26,SLMAP,SNTN,SPATA12,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TKT,WNT5A chr3 53044205 53044315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SFMBT1 chr3 53080501 53083000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 53083001 53156500 Copy number Normal ReadDepth: A Parallel R Package 21305028 RFT1 chr3 53099055 53099429 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 53099055 53099429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 53099851 53139503 Gain and loss Pancreatic cancer SNP array 17952125 RFT1 chr3 53099851 53139509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RFT1 chr3 53099851 53139509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RFT1 chr3 53156501 53208500 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRKCD,RFT1 chr3 53170262 53201773 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 PRKCD chr3 53170262 53201773 Gain or loss Breast cancer - 20668451 PRKCD chr3 53170262 53201773 Gain or loss Cancer - 20668451 PRKCD chr3 53170262 53201773 Gain or loss Lung cancer - 20668451 PRKCD chr3 53170262 53201773 Gain or loss Ovarian cancer - 20668451 PRKCD chr3 53170262 53201773 Gain or loss Pancreas cancer - 20668451 PRKCD chr3 53170262 53201773 Gain or loss Prostate cancer - 20668451 PRKCD chr3 53170263 53201771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PRKCD chr3 53170263 53201771 Gain and loss Pancreatic cancer SNP array 17952125 PRKCD chr3 53170263 53201771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCD chr3 53208501 53231000 Copy number Normal ReadDepth: A Parallel R Package 21305028 PRKCD chr3 53213286 53213386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRKCD chr3 53219009 53219102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PRKCD chr3 53231001 53271000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TKT chr3 53233770 53265056 Gain and loss Pancreatic cancer SNP array 17952125 TKT chr3 53234715 53265078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TKT chr3 53234715 53265078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TKT chr3 5326396 5326496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 53264492 53281469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TKT chr3 53292258 53292359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 53292258 53292359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 53292490 53356677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCP1A chr3 53292490 53356677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCP1A chr3 53295981 53302992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 53296428 53356677 Gain and loss Pancreatic cancer SNP array 17952125 DCP1A chr3 53299698 53299807 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 53299698 53299809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 53310514 53365372 Gain or loss Breast cancer - 20668451 DCP1A chr3 53310514 53365372 Gain or loss Cancer - 20668451 DCP1A chr3 53310514 53365372 Gain or loss Lung cancer - 20668451 DCP1A chr3 53310514 53365372 Gain or loss Ovarian cancer - 20668451 DCP1A chr3 53310514 53365372 Gain or loss Pancreas cancer - 20668451 DCP1A chr3 53310514 53365372 Gain or loss Prostate cancer - 20668451 DCP1A chr3 53342127 53342195 Gain and loss Pancreatic cancer SNP array 17952125 DCP1A chr3 53342127 53342195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCP1A chr3 53396780 53396903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 53410516 53411516 Loss Chordoma References 21215367 NOT_FOUND chr3 53444674 54399594 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ACTR8,CACNA1D,CACNA2D3,CHDH,IL17RB,SELK chr3 53500006 53500203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 53504116 53821001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1D chr3 53504116 53821001 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1D chr3 53504116 53821001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1D chr3 5353409 6545277 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 5354093 5354162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 53558405 53558505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1D chr3 53618970 53619065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1D chr3 53629002 53660131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA1D chr3 53650000 56480000 Loss Breast cancer aCGH 21509527 ACTR8,CACNA1D,CACNA2D3,CACNA2D3-AS1,CHDH,ERC2,ERC2-IT1,ESRG,IL17RB,LRTM1,MIR3938,SELK,WNT5A chr3 5368997 5369097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 53707236 53707268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA1D chr3 537642 903456 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 53808501 53856000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CACNA1D,CHDH chr3 53826681 53855216 Gain and loss Pancreatic cancer SNP array 17952125 CACNA1D,CHDH chr3 53826683 53855216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA1D,CHDH chr3 53826683 53855216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA1D,CHDH chr3 5382794 5382857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 53855612 53874866 Gain and loss Pancreatic cancer SNP array 17952125 CHDH chr3 53855617 53874866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHDH chr3 53855617 53874866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHDH chr3 53856492 53856588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHDH chr3 53876195 53891227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CHDH,IL17RB chr3 53876195 53891227 Gain and loss Pancreatic cancer SNP array 17952125 CHDH,IL17RB chr3 53876195 53891227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CHDH,IL17RB chr3 53891253 53891336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL17RB chr3 53894267 53901029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL17RB chr3 53894267 53901029 Gain and loss Pancreatic cancer SNP array 17952125 IL17RB chr3 53894267 53901029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL17RB chr3 5392151 5393131 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 5396722 5397258 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 5399845 5400100 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 54007388 62347194 Loss Prostate cancer Array CGH 18632612 ABHD6,ACOX2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,C3orf14,C3orf67,CACNA2D3,CACNA2D3-AS1,CCDC66,DNAH12,DNASE1L3,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM208A,FAM3D,FHIT,FLNB,HESX1,IL17RD,KCTD6,LOC100506994,LRTM1,MIR3938,PDE12,PDHB,PTPRG,PXK,RPP14,SLMAP,SPATA12,WNT5A chr3 54049957 54050159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 54075928 54076054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 54075928 54076054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 54118674 54118706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 54131733 55083622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D3,CACNA2D3-AS1,ESRG,LRTM1 chr3 54131733 55083622 Gain and loss Pancreatic cancer SNP array 17952125 CACNA2D3,CACNA2D3-AS1,ESRG,LRTM1 chr3 54131733 55083622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D3,CACNA2D3-AS1,ESRG,LRTM1 chr3 54165552 55464994 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CACNA2D3,CACNA2D3-AS1,ESRG,LRTM1 chr3 54177801 54212726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA2D3 chr3 54216209 54216596 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CACNA2D3 chr3 54226052 54226146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 54234421 54303347 Loss Normal Birdsuite, version 1.5.2 22087296 CACNA2D3 chr3 5430240 5430575 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 54330551 54330651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 5433617 5434181 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 54364155 57499531 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 APPL1,ARHGEF3,ARHGEF3-AS1,ASB14,CACNA2D3,CACNA2D3-AS1,CCDC66,DNAH12,ERC2,ERC2-IT1,ESRG,FAM208A,HESX1,IL17RD,LRTM1,MIR3938,SPATA12,WNT5A chr3 54371750 54371850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 54399594 55202539 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 CACNA2D3,CACNA2D3-AS1,ESRG,LRTM1 chr3 54400000 58500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD6,ACOX2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,CACNA2D3,CACNA2D3-AS1,CCDC66,DNAH12,DNASE1L3,ERC2,ERC2-IT1,ESRG,FAM116A,FAM208A,FLNB,HESX1,IL17RD,KCTD6,LRTM1,MIR3938,PDE12,PDHB,PXK,RPP14,SLMAP,SPATA12,WNT5A chr3 54400000 58500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABHD6,ACOX2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,CACNA2D3,CACNA2D3-AS1,CCDC66,DNAH12,DNASE1L3,ERC2,ERC2-IT1,ESRG,FAM116A,FAM208A,FLNB,HESX1,IL17RD,KCTD6,LRTM1,MIR3938,PDE12,PDHB,PXK,RPP14,SLMAP,SPATA12,WNT5A chr3 54400000 58500000 Loss Urothelial cell carcinoma FISH 18451213 ABHD6,ACOX2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,CACNA2D3,CACNA2D3-AS1,CCDC66,DNAH12,DNASE1L3,ERC2,ERC2-IT1,ESRG,FAM116A,FAM208A,FLNB,HESX1,IL17RD,KCTD6,LRTM1,MIR3938,PDE12,PDHB,PXK,RPP14,SLMAP,SPATA12,WNT5A chr3 54400000 69800000 Gain Breast cancer References 19490591 ABHD6,ACOX2,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,DNAH12,DNASE1L3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,FRMD4B,HESX1,IL17RD,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR3136,MIR3938,MIR4272,MIR548A2,MITF,PDE12,PDHB,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,PXK,RPP14,SLC25A26,SLMAP,SNTN,SPATA12,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,WNT5A chr3 54400000 69800000 Loss Autism References 18414403 ABHD6,ACOX2,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,DNAH12,DNASE1L3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,FRMD4B,HESX1,IL17RD,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR3136,MIR3938,MIR4272,MIR548A2,MITF,PDE12,PDHB,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,PXK,RPP14,SLC25A26,SLMAP,SNTN,SPATA12,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,WNT5A chr3 54400000 71800000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ABHD6,ACOX2,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,DNAH12,DNASE1L3,EIF4E3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,FOXP1,FRMD4B,HESX1,IL17RD,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR3938,MIR4272,MIR548A2,MITF,PDE12,PDHB,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,PXK,RPP14,SLC25A26,SLMAP,SNTN,SPATA12,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,WNT5A chr3 54400000 71800000 Loss Non-small cell lung cancer In situ minichips 20864512 ABHD6,ACOX2,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,DNAH12,DNASE1L3,EIF4E3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,FOXP1,FRMD4B,HESX1,IL17RD,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR3938,MIR4272,MIR548A2,MITF,PDE12,PDHB,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,PXK,RPP14,SLC25A26,SLMAP,SNTN,SPATA12,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,WNT5A chr3 54400000 74200000 Amplification Metastatic melanoma Quantitative real-time PCR 17975146 ABHD6,ACOX2,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,DNAH12,DNASE1L3,EBLN2,EIF4E3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,FOXP1,FRMD4B,GPR27,GXYLT2,HESX1,IL17RD,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC201617,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR3938,MIR4272,MIR548A2,MITF,PDE12,PDHB,PDZRN3,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PROK2,PSMD6,PSMD6-AS2,PTPRG,PXK,RPP14,RYBP,SHQ1,SLC25A26,SLMAP,SNTN,SPATA12,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,WNT5A chr3 54400000 74200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABHD6,ACOX2,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARL6IP5,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,CACNA2D3,CACNA2D3-AS1,CADPS,CCDC66,DNAH12,DNASE1L3,EBLN2,EIF4E3,EOGT,ERC2,ERC2-IT1,ESRG,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM208A,FAM3D,FEZF2,FHIT,FLNB,FOXP1,FRMD4B,GPR27,GXYLT2,HESX1,IL17RD,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC201617,LOC285401,LRIG1,LRTM1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR3938,MIR4272,MIR548A2,MITF,PDE12,PDHB,PDZRN3,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PROK2,PSMD6,PSMD6-AS2,PTPRG,PXK,RPP14,RYBP,SHQ1,SLC25A26,SLMAP,SNTN,SPATA12,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,WNT5A chr3 54408185 54408285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 54423404 56240148 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CACNA2D3,CACNA2D3-AS1,ERC2,ERC2-IT1,ESRG,LRTM1,MIR3938,WNT5A chr3 54446398 54456156 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 CACNA2D3 chr3 54464278 54464378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 54565735 54599541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA2D3 chr3 54600000 199600000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABHD6,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACOX2,ACPL2,ACPP,ACTL6A,ACTRT3,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,APPL1,ARF4,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARHGEF3,ARHGEF3-AS1,ARL13B,ARL14,ARL6,ARL6IP5,ARMC8,ASB14,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,ATXN7,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf38,C3orf43,C3orf49,C3orf52,C3orf55,C3orf58,C3orf65,C3orf67,C3orf70,C3orf72,C3orf79,C3orf80,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC66,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHMP2B,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAH12,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DNASE1L3,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,EOGT,EPHA3,EPHA6,EPHB1,EPHB3,ERC2,ERC2-IT1,ESRG,ESYT3,ETV5,FAIM,FAM107A,FAM116A,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM19A1,FAM19A4,FAM208A,FAM3D,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FEZF2,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FLNB,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HESX1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL17RD,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KCTD6,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100287879,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC285401,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LRTM1,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR1284,MIR1324,MIR15B,MIR16-2,MIR198,MIR3136,MIR3919,MIR3921,MIR3938,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4789,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A2,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MITF,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDE12,PDHB,PDIA5,PDZRN3,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PPM1L,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PTX3,PVRL3,PVRL3-AS1,PXK,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RPP14,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYBP,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A26,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SLMAP,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA12,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCLG2,SUCNR1,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THOC7,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMF1,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VGLL3,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WNT5A,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 54601372 55238146 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CACNA2D3,CACNA2D3-AS1,ESRG,LRTM1 chr3 54638228 54638260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 54651062 54651162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 546751 547075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 54766245 54766335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 54771788 54783202 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CACNA2D3 chr3 5478187 5662674 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 54789616 60014051 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD6,ACOX2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,C3orf67,CACNA2D3,CACNA2D3-AS1,CCDC66,DNAH12,DNASE1L3,ERC2,ERC2-IT1,FAM107A,FAM116A,FAM208A,FAM3D,FHIT,FLNB,HESX1,IL17RD,KCTD6,LRTM1,MIR3938,PDE12,PDHB,PXK,RPP14,SLMAP,SPATA12,WNT5A chr3 54812074 54812164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 5483915 5484120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 5483991 5484091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 5484107 5484268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 54927425 54937112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D3,CACNA2D3-AS1 chr3 54927425 54937112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CACNA2D3,CACNA2D3-AS1 chr3 54927430 54976155 Gain and loss Pancreatic cancer SNP array 17952125 CACNA2D3,CACNA2D3-AS1,LRTM1 chr3 54945591 54945691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 54956379 54988276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CACNA2D3,LRTM1 chr3 5500000 58500000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,AZI2,BAP1,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EFHB,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM116A,FAM198A,FAM208A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FLNB,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,JAGN1,KAT2B,KBTBD5,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 5500000 71800000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EFHB,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ33065,FLJ39534,FLNB,FOXP1,FRMD4B,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC152024,LOC285326,LOC285401,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4442,MIR4443,MIR4787,MIR4791,MIR4792,MIR4793,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 5500000 8700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C3orf32,GRM7,LINC00312,LMCD1,LOC100288428 chr3 5500000 8700000 Copy number Squamous cell cancer aCGH 20885788 C3orf32,GRM7,LINC00312,LMCD1,LOC100288428 chr3 5500000 8700000 Deletion Attention deficit hyperactivity disorder high-density microarrays 22241247 C3orf32,GRM7,LINC00312,LMCD1,LOC100288428 chr3 5500000 8700000 Deletion Splenic marginal zone lymphoma BAC CGH array 21957467 C3orf32,GRM7,LINC00312,LMCD1,LOC100288428 chr3 5500000 8700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C3orf32,GRM7,LINC00312,LMCD1,LOC100288428 chr3 55078151 55079075 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 CACNA2D3 chr3 5508301 5515900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 55087902 55087959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CACNA2D3 chr3 5509615 5514260 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 5510398 5514280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 5511975 5513017 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr3 55147029 55255377 Copy number Lung cancer - 20668451 NOT_FOUND chr3 55147029 55255377 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 55147029 55255377 Gain or loss Cancer - 20668451 NOT_FOUND chr3 55147029 55255377 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 55147029 55255377 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 55147029 55255377 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 55147029 55255377 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 55147029 55255377 Insertion Narcolepsy References 22138850 NOT_FOUND chr3 5516451 5516502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 55211703 55211803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 55223210 55223310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 5523135 5523235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 55333487 55333579 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 55352234 55396566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 55357029 55357129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 55368891 55464838 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 55448781 55448851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 55464994 56782955 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF3,CCDC66,ERC2,ERC2-IT1,FAM208A,MIR3938,WNT5A chr3 55465669 55640833 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ERC2,WNT5A chr3 55474782 55496371 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 55474782 55496371 Gain or loss Cancer - 20668451 NOT_FOUND chr3 55474782 55496371 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 55474782 55496371 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 55474782 55496371 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 55474782 55496371 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 55474784 55496371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 55474784 55496371 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 55474784 55496371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 55491001 55499000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 55517375 56477431 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 ERC2,ERC2-IT1,MIR3938,WNT5A chr3 55517376 56477431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ERC2,ERC2-IT1,MIR3938,WNT5A chr3 55517376 56477431 Gain and loss Pancreatic cancer SNP array 17952125 ERC2,ERC2-IT1,MIR3938,WNT5A chr3 55520708 55520808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WNT5A chr3 55526728 55526828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 555373 1262212 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN6 chr3 55543497 55543597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55661444 55661572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERC2 chr3 55667516 55668123 Gain and loss Pancreatic cancer SNP array 17952125 ERC2 chr3 55667516 55668123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERC2 chr3 55669338 55669438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55692901 56477431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERC2,ERC2-IT1,MIR3938 chr3 55733899 55733984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55737314 55737414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55738278 55738378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55744385 55744485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55759602 55765934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ERC2 chr3 55788365 55788580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55788461 55788562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55814291 57444397 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 APPL1,ARHGEF3,ARHGEF3-AS1,ASB14,CCDC66,DNAH12,ERC2,FAM208A,HESX1,IL17RD,MIR3938,SPATA12 chr3 55855003 55870149 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ERC2 chr3 55914339 55914439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55931683 55931733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 55947146 55947419 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ERC2 chr3 559732 860076 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr3 5607493 5613638 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr3 56081172 56081409 Gain and loss Pancreatic cancer SNP array 17952125 ERC2 chr3 56081172 56081482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERC2 chr3 56081172 56081504 Gain and loss Pancreatic cancer SNP array 17952125 ERC2 chr3 56086063 56086155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 56128445 56139487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ERC2 chr3 56194177 56194290 Gain and loss Pancreatic cancer SNP array 17952125 ERC2 chr3 56194184 56194290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ERC2 chr3 56194188 56194292 Gain and loss Pancreatic cancer SNP array 17952125 ERC2 chr3 56313915 56314015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 56373965 56374065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 56458922 56459022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 56459589 56459642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ERC2 chr3 56566231 56630876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC66 chr3 56566231 56630876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC66 chr3 56566287 56630872 Gain and loss Pancreatic cancer SNP array 17952125 CCDC66 chr3 56579740 56579995 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 56623902 56625214 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CCDC66 chr3 56629199 56692175 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 CCDC66,FAM208A chr3 56629613 56682707 Gain and loss Pancreatic cancer SNP array 17952125 CCDC66,FAM208A chr3 56632014 56692173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC66,FAM208A chr3 5666047 5666147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 56691539 56692074 Gain and loss Pancreatic cancer SNP array 17952125 FAM208A chr3 56702141 56702181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM208A chr3 56736485 57088376 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ARHGEF3,ARHGEF3-AS1 chr3 56736486 57088333 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF3,ARHGEF3-AS1 chr3 56736489 57044217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF3,ARHGEF3-AS1 chr3 56736489 57044217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF3,ARHGEF3-AS1 chr3 56782955 56823291 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ARHGEF3 chr3 56812331 56812431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF3 chr3 56834581 56834681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF3 chr3 56852590 56852680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF3 chr3 56889623 60487704 Deletion Cancer aCGH 18162546 ABHD6,ACOX2,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ASB14,C3orf67,DNAH12,DNASE1L3,FAM107A,FAM116A,FAM3D,FHIT,FLNB,HESX1,IL17RD,KCTD6,PDE12,PDHB,PXK,RPP14,SLMAP,SPATA12 chr3 5693197 5693286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 56933078 56933167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF3 chr3 56956841 56996304 Copy number gain Normal High-resolution SNP genotyping 21211785 ARHGEF3,ARHGEF3-AS1 chr3 56978311 56978473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF3,ARHGEF3-AS1 chr3 57010 103697 Duplication Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V8 BeadChip 22016809 NOT_FOUND chr3 57010648 57010748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF3 chr3 57048634 90576572 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABHD6,ACOX2,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ARHGEF3,ARL6IP5,ASB14,ATXN7,C3orf14,C3orf38,C3orf49,C3orf67,CADM2,CADM2-AS2,CADPS,CGGBP1,CHMP2B,CNTN3,DNAH12,DNASE1L3,EBLN2,EIF4E3,EOGT,EPHA3,FAM107A,FAM116A,FAM19A1,FAM19A4,FAM3D,FAM86DP,FEZF2,FHIT,FLJ20518,FLNB,FOXP1,FRG2C,FRMD4B,GBE1,GPR27,GXYLT2,HESX1,HTR1F,IL17RD,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC201617,LOC285401,LOC401074,LOC440970,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR1324,MIR3136,MIR4272,MIR4273,MIR4444-1,MIR4795,MIR548A2,MIR5688,MITF,PDE12,PDHB,PDZRN3,POU1F1,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PROK2,PSMD6,PSMD6-AS2,PTPRG,PXK,RNU6-69,ROBO1,ROBO2,RPP14,RYBP,SHQ1,SLC25A26,SLMAP,SNTN,SPATA12,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,VGLL3,ZNF654,ZNF717 chr3 57049208 58024868 LOH Normal High-resolution SNP genotyping 21211785 APPL1,ARF4,ARHGEF3,ASB14,DNAH12,FAM116A,FLNB,HESX1,IL17RD,PDE12,SLMAP,SPATA12 chr3 57062016 57938599 LOH Normal High-resolution SNP genotyping 21211785 APPL1,ARF4,ARHGEF3,ASB14,DNAH12,FAM116A,HESX1,IL17RD,PDE12,SLMAP,SPATA12 chr3 57069509 57084500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF3 chr3 57069509 57084500 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF3 chr3 57069509 57084500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF3 chr3 57099049 57179371 Gain or loss Breast cancer - 20668451 ARHGEF3,IL17RD,SPATA12 chr3 57099049 57179371 Gain or loss Cancer - 20668451 ARHGEF3,IL17RD,SPATA12 chr3 57099049 57179371 Gain or loss Lung cancer - 20668451 ARHGEF3,IL17RD,SPATA12 chr3 57099049 57179371 Gain or loss Ovarian cancer - 20668451 ARHGEF3,IL17RD,SPATA12 chr3 57099049 57179371 Gain or loss Pancreas cancer - 20668451 ARHGEF3,IL17RD,SPATA12 chr3 57099049 57179371 Gain or loss Prostate cancer - 20668451 ARHGEF3,IL17RD,SPATA12 chr3 57099050 57179374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF3,IL17RD,SPATA12 chr3 57099050 57179374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF3,IL17RD,SPATA12 chr3 57102388 57103060 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ARHGEF3,SPATA12 chr3 57103318 57179374 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF3,IL17RD,SPATA12 chr3 57138629 57183416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 IL17RD chr3 57204351 57204473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 57207265 57209320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 57207265 57209320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 57207265 57209320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 57236805 57282539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APPL1 chr3 57236805 57282539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APPL1 chr3 57236894 57282536 Gain and loss Pancreatic cancer SNP array 17952125 APPL1 chr3 57277419 57288020 Gain and loss Pancreatic cancer SNP array 17952125 APPL1 chr3 57277419 57301165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APPL1 chr3 57277419 57301165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APPL1 chr3 57295459 57295533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 APPL1 chr3 57299476 57314028 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 APPL1,ASB14 chr3 57302817 57361295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 APPL1,ASB14,DNAH12 chr3 57302817 57361295 Gain and loss Pancreatic cancer SNP array 17952125 APPL1,ASB14,DNAH12 chr3 57302817 57361295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 APPL1,ASB14,DNAH12 chr3 57303907 64754696 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ABHD6,ACOX2,ADAMTS9,ADAMTS9-AS2,APPL1,ARF4,ASB14,ATXN7,C3orf14,C3orf49,C3orf67,CADPS,DNAH12,DNASE1L3,FAM107A,FAM116A,FAM3D,FEZF2,FHIT,FLNB,KCTD6,LOC100287879,LOC100506994,LOC285401,MIR548A2,PDE12,PDHB,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,PXK,RPP14,SLMAP,SNTN,SYNPR,SYNPR-AS1,THOC7 chr3 57325976 57326976 Loss Chordoma References 21215367 ASB14 chr3 57326959 57327059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 57328829 57358933 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 DNAH12 chr3 57406010 57415583 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57406010 57418511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57406010 57418511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57429635 57505108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57429635 57505108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57430914 57431017 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57430914 57431017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57454434 57454547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57454436 57454543 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57458770 57505108 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 DNAH12 chr3 57458771 57505108 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57473217 57473322 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57473217 57473322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57497019 57497125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57497022 57497125 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57497023 57497125 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57497749 57499077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DNAH12 chr3 57498753 57622212 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARF4,DNAH12,FAM116A,PDE12 chr3 57509605 57509712 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57509605 57509712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57517044 57522721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57517044 57522721 Gain and loss Pancreatic cancer SNP array 17952125 DNAH12 chr3 57517044 57522721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DNAH12 chr3 57532132 57558118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARF4,PDE12 chr3 57532132 57558118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARF4,PDE12 chr3 57532134 57558154 Gain and loss Pancreatic cancer SNP array 17952125 ARF4,PDE12 chr3 57542634 57617086 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ARF4,FAM116A,PDE12 chr3 57579851 57580119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARF4 chr3 57580214 57580339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARF4 chr3 57580215 57580335 Gain and loss Pancreatic cancer SNP array 17952125 ARF4 chr3 57586222 57653843 Gain and loss Pancreatic cancer SNP array 17952125 FAM116A chr3 57586224 57653844 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 FAM116A chr3 57586227 57653844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM116A chr3 57586227 57653844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM116A chr3 57660540 57660615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM116A chr3 57716997 57889935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLMAP chr3 57716997 57889935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLMAP chr3 57718213 57889934 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 SLMAP chr3 5774685 7546236 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GRM7 chr3 57802083 57889934 Gain and loss Pancreatic cancer SNP array 17952125 SLMAP chr3 57852588 57853843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLMAP chr3 57902573 57903065 Gain and loss Pancreatic cancer SNP array 17952125 SLMAP chr3 57902585 57903065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLMAP chr3 57907001 57969000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SLMAP chr3 57933631 58521444 LOH Normal High-resolution SNP genotyping 21211785 ABHD6,ACOX2,DNASE1L3,FLNB,KCTD6,PDHB,PXK,RPP14 chr3 57933631 58631155 LOH Normal High-resolution SNP genotyping 21211785 ABHD6,ACOX2,DNASE1L3,FAM107A,FAM3D,FLNB,KCTD6,PDHB,PXK,RPP14 chr3 57933865 57953293 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 5793701 7311700 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRM7 chr3 57969001 57970500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 57969166 58133017 Copy number Lung cancer - 20668451 FLNB chr3 57969166 58133017 Gain or loss Breast cancer - 20668451 FLNB chr3 57969166 58133017 Gain or loss Cancer - 20668451 FLNB chr3 57969166 58133017 Gain or loss Lung cancer - 20668451 FLNB chr3 57969166 58133017 Gain or loss Ovarian cancer - 20668451 FLNB chr3 57969166 58133017 Gain or loss Pancreas cancer - 20668451 FLNB chr3 57969166 58133017 Gain or loss Prostate cancer - 20668451 FLNB chr3 57969167 58133015 Gain and loss Pancreatic cancer SNP array 17952125 FLNB chr3 57969167 58133018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLNB chr3 57969167 58133018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLNB chr3 57970501 58138500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLNB chr3 57974321 57974601 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 57974321 57974601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 57977914 58005928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FLNB chr3 58097286 58097386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FLNB chr3 5809849 5809917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 58138501 58141000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLNB chr3 58153393 58175438 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 FLNB chr3 58153394 58175438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLNB chr3 58153454 58175893 Gain and loss Pancreatic cancer SNP array 17952125 FLNB chr3 581901 657800 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 58198298 58255501 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 ABHD6 chr3 58198349 58255499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ABHD6 chr3 58198349 58255499 Gain and loss Pancreatic cancer SNP array 17952125 ABHD6 chr3 58198349 58255499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD6 chr3 58267014 58280960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ABHD6 chr3 58267051 58279262 Gain and loss Pancreatic cancer SNP array 17952125 ABHD6 chr3 58293657 58385918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PXK,RPP14 chr3 58293657 58385918 Gain and loss Pancreatic cancer SNP array 17952125 PXK,RPP14 chr3 58293657 58385918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PXK,RPP14 chr3 58296329 58296398 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RPP14 chr3 58312870 58347484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PXK chr3 58380000 70970000 Loss Breast cancer aCGH 21509527 ACOX2,ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf14,C3orf49,C3orf67,CADPS,EOGT,FAM107A,FAM19A1,FAM19A4,FAM3D,FEZF2,FHIT,FRMD4B,KBTBD8,KCTD6,LMOD3,LOC100287879,LOC100506994,LOC285401,LRIG1,MAGI1,MAGI1-AS1,MIR3136,MIR4272,MIR548A2,MITF,PDHB,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,PXK,SLC25A26,SNTN,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3 chr3 58388398 58394594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PXK chr3 58388398 58394594 Gain and loss Pancreatic cancer SNP array 17952125 PXK chr3 58388398 58394594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PXK chr3 58420017 58420105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 58452881 58463110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 58452881 58463119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 58452881 58463119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 58465904 58497948 Gain and loss Pancreatic cancer SNP array 17952125 ACOX2,KCTD6 chr3 58465906 58497956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ACOX2,KCTD6 chr3 58465906 58497956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ACOX2,KCTD6 chr3 58480662 58521200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACOX2,KCTD6 chr3 58481378 58481473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCTD6 chr3 58500000 63700000 Copy number Normal - 21701786 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 63700000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 63700000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 63700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 63700000 Loss Barrett's adenocarcinoma FISH 18663352 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 63700000 Loss Myxofibrosarcoma Array CGH 16751306 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 63700000 Loss Non-small cell lung cancer dChip 21829676 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 63700000 Loss Urothelial cell carcinoma FISH 18451213 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 63700000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ACOX2,C3orf14,C3orf67,CADPS,FAM107A,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58500000 71800000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 ACOX2,ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf14,C3orf49,C3orf67,CADPS,EIF4E3,EOGT,FAM107A,FAM19A1,FAM19A4,FAM3D,FEZF2,FHIT,FOXP1,FRMD4B,KBTBD8,LMOD3,LOC100287879,LOC100506994,LOC285401,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,SLC25A26,SNTN,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3 chr3 58500000 87200000 Loss Normal Human genome CGH 46k ARRAY PLATFORM 22144094 ACOX2,ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf14,C3orf49,C3orf67,CADM2,CADM2-AS2,CADPS,CNTN3,EBLN2,EIF4E3,EOGT,FAM107A,FAM19A1,FAM19A4,FAM3D,FAM86DP,FEZF2,FHIT,FLJ20518,FOXP1,FRG2C,FRMD4B,GBE1,GPR27,GXYLT2,KBTBD8,LMOD3,LOC100287879,LOC100506994,LOC201617,LOC285401,LOC401074,LOC440970,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR1324,MIR3136,MIR4272,MIR4273,MIR4444-1,MIR548A2,MIR5688,MITF,PDZRN3,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PROK2,PSMD6,PSMD6-AS2,PTPRG,RNU6-69,ROBO1,ROBO2,RYBP,SHQ1,SLC25A26,SNTN,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,VGLL3,ZNF717 chr3 58505421 58525739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ACOX2 chr3 58509819 58512364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ACOX2 chr3 58524884 58538531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 58524884 58538531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 58524887 58588377 Gain and loss Pancreatic cancer SNP array 17952125 FAM107A chr3 58546923 58546985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 58572001 58626000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM3D chr3 58576624 58576774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 58589433 59015681 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf67,FAM3D chr3 58594715 58627615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM3D chr3 58594715 58627615 Gain and loss Pancreatic cancer SNP array 17952125 FAM3D chr3 58594715 58627615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM3D chr3 58600000 63700000 Copy number Neuroticism SNP array 17667963 C3orf14,C3orf67,CADPS,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58600000 63700000 Copy number Squamous cell cancer Real-time PCR 19047905 C3orf14,C3orf67,CADPS,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58600000 63700000 Gain or loss Esophageal squamous carcinoma Array CGH 17470683 C3orf14,C3orf67,CADPS,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58600000 63700000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 C3orf14,C3orf67,CADPS,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58600000 63700000 Loss Mental retardation Array CGH 17847001 C3orf14,C3orf67,CADPS,FAM3D,FEZF2,FHIT,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1 chr3 58600000 69800000 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf14,C3orf49,C3orf67,CADPS,EOGT,FAM19A1,FAM19A4,FAM3D,FEZF2,FHIT,FRMD4B,KBTBD8,LMOD3,LOC100287879,LOC100506994,LOC285401,LRIG1,MAGI1,MAGI1-AS1,MIR3136,MIR4272,MIR548A2,MITF,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,SLC25A26,SNTN,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3 chr3 58626894 61524607 Deletion Cancer Affymetrix 250K Sty array 20164920 C3orf67,FAM3D,FHIT chr3 58628928 58674189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM3D chr3 58634071 58634141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM3D chr3 58650113 58650213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM3D chr3 587001 638500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 58702064 60794043 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf67,FHIT chr3 58702777 58878486 Gain and loss Pancreatic cancer SNP array 17952125 C3orf67 chr3 58702777 59010755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf67 chr3 58702777 59010755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf67 chr3 58738767 58738867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf67 chr3 58776282 58776382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf67 chr3 58792233 58792322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf67 chr3 58931785 58932785 Loss Chordoma References 21215367 C3orf67 chr3 58938129 58939129 Gain Chordoma References 21215367 C3orf67 chr3 590419 635537 Loss Normal 244K array 17666407 NOT_FOUND chr3 59063996 59065645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 59100260 59100586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 5920602 5924074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 5921587 5921687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 59240800 59240900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 59267645 59267745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 59352994 59353061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 59363336 59363405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 59414093 61482429 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FHIT chr3 59468098 59468207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 59468102 59468211 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 59476129 59509279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 59582258 59587391 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 59659649 59662653 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 59674527 59675476 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 59681529 79199503 Deletion Autism Array CGH 22102821 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf14,C3orf49,CADPS,CNTN3,EBLN2,EIF4E3,EOGT,FAM19A1,FAM19A4,FAM86DP,FEZF2,FHIT,FLJ20518,FOXP1,FRG2C,FRMD4B,GPR27,GXYLT2,KBTBD8,LMOD3,LOC100287879,LOC100506994,LOC201617,LOC285401,LOC401074,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR1324,MIR3136,MIR4272,MIR4273,MIR4444-1,MIR548A2,MITF,PDZRN3,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PROK2,PSMD6,PSMD6-AS2,PTPRG,ROBO1,ROBO2,RYBP,SHQ1,SLC25A26,SNTN,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3,ZNF717 chr3 59710075 61212173 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 FHIT chr3 59710075 61212173 Indels Malaria PCR,Delta Delta Ct 21533027 FHIT chr3 59710075 61212173 Indels Normal Affymetrix 6.0 array 21223598 FHIT chr3 59712992 60497735 Gain and loss Pancreatic cancer SNP array 17952125 FHIT chr3 59712992 60497735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHIT chr3 59724013 60081031 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FHIT chr3 59725602 59725702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 59745917 59775497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FHIT chr3 59762067 59762132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FHIT chr3 59803953 64388628 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-413K arrays 21546498 ATXN7,C3orf14,C3orf49,CADPS,FEZF2,FHIT,LOC100287879,LOC100506994,LOC285401,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,SNTN,SYNPR,SYNPR-AS1,THOC7 chr3 59852805 59852905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 59852888 59853109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 59898816 59898903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 599218 645236 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 59932247 59932560 Gain and loss Pancreatic cancer SNP array 17952125 FHIT chr3 59962043 59962143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 59962728 59962828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60025175 60025275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60039501 60039590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60042906 60252168 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 FHIT chr3 60046000 60153000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 FHIT chr3 60055163 60055689 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 FHIT chr3 60064000 60318000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 FHIT chr3 60064354 60976902 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 FHIT chr3 60073349 60099620 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 FHIT chr3 60117388 60117874 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 FHIT chr3 60136156 61249601 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FHIT chr3 60217045 60217145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60227138 60227238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60228389 60473212 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 FHIT chr3 60230237 60734018 Deletion Cancer aCGH 18162546 FHIT chr3 60267863 60267963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60277228 60790259 LOH Normal High-resolution SNP genotyping 21211785 FHIT chr3 60277595 60277654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60281044 60591511 Copy number loss Normal High-resolution SNP genotyping 21211785 FHIT chr3 60281044 60600842 Copy number loss Normal High-resolution SNP genotyping 21211785 FHIT chr3 60318300 60349155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FHIT chr3 60331036 60331136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60331268 61710321 Loss Oral cancer 105K CGH oligonucleotide array 21386901 FHIT,PTPRG chr3 60342988 60765820 Deletion Cancer aCGH 18162546 FHIT chr3 60360001 60367100 Deletion Glioma mate-paired sequence 20126413 FHIT chr3 60389514 60550562 Allelic imbalance Normal High-resolution SNP genotyping 21211785 FHIT chr3 60396160 60637030 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 FHIT chr3 60401085 60627358 Deletion Cancer aCGH 18162546 FHIT chr3 60430000 60530000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 FHIT chr3 60447451 60472964 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 FHIT chr3 60502519 60518523 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 FHIT chr3 60527478 60527548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60560435 60560530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60579798 60673574 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FHIT chr3 60589837 60623247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FHIT chr3 60599452 60599526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60617705 60617792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60650998 60651492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHIT chr3 60651035 60651492 Gain and loss Pancreatic cancer SNP array 17952125 FHIT chr3 60690826 60691415 Gain and loss Pancreatic cancer SNP array 17952125 FHIT chr3 60729284 60774540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FHIT chr3 60747877 60752972 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FHIT chr3 60753555 60754845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FHIT chr3 60756983 61016168 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FHIT chr3 60765695 607162370 Duplication Cancer aCGH 18162546 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARL6IP5,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,ATXN7,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf14,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf38,C3orf43,C3orf49,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CADM2,CADM2-AS2,CADPS,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHMP2B,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,EOGT,EPHA3,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM19A1,FAM19A4,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FEZF2,FGF12,FHIT,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100287879,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100506994,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC285401,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR1284,MIR1324,MIR15B,MIR16-2,MIR198,MIR3136,MIR3919,MIR3921,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4789,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A2,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MITF,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PDZRN3,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PPM1L,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PSMD6,PSMD6-AS2,PTPLB,PTPRG,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYBP,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A26,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNTN,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCLG2,SUCNR1,SYNPR,SYNPR-AS1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THOC7,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMF1,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VGLL3,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 60793914 61228085 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FHIT chr3 60799657 60884548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FHIT chr3 60803886 60803986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 60817102 60817317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHIT chr3 60835256 60836256 Loss Chordoma References 21215367 FHIT chr3 60853750 60853850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 6085428 6085513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 60945848 61106220 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 FHIT chr3 60971918 61160598 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FHIT chr3 60979549 60993090 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 FHIT chr3 61043555 61043674 Gain and loss Pancreatic cancer SNP array 17952125 FHIT chr3 61043568 61043677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FHIT chr3 61043588 61043677 Gain and loss Pancreatic cancer SNP array 17952125 FHIT chr3 61102230 61103224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FHIT chr3 61151923 61152023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 61204 146308 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 61207559 61207651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 61212185 61212255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FHIT chr3 6124491 6124560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 61256881 64746245 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ADAMTS9,ADAMTS9-AS2,ATXN7,C3orf14,C3orf49,CADPS,FEZF2,LOC100287879,LOC100506994,LOC285401,MIR548A2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,PTPRG,SNTN,SYNPR,SYNPR-AS1,THOC7 chr3 6127255 6130808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 61306257 61306351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 61359516 61359609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 61372434 61372484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 6141555 6141665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 61419272 61419360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 61450089 61450411 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 61455742 61455842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 61470834 62712651 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 C3orf14,CADPS,FEZF2,LOC100506994,PTPRG chr3 61520309 61520407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 61522283 62254022 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506994,PTPRG chr3 61522283 62255613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100506994,PTPRG chr3 61522283 62255613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506994,PTPRG chr3 61522283 62255613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506994,PTPRG chr3 61545481 62016707 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 PTPRG chr3 6155310 6949832 In Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 GRM7 chr3 61580201 62187400 Copy number Normal ReadDepth: A Parallel R Package 21305028 PTPRG chr3 61605942 62233842 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 PTPRG chr3 61613198 63957122 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ATXN7,C3orf14,C3orf49,CADPS,FEZF2,LOC100506994,LOC285401,PTPRG,SNTN,SYNPR,SYNPR-AS1,THOC7 chr3 61641456 61641725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRG chr3 61666437 61666479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRG chr3 61699843 61699915 Gain and loss Pancreatic cancer SNP array 17952125 PTPRG chr3 61699843 61699943 Gain and loss Pancreatic cancer SNP array 17952125 PTPRG chr3 61703169 61703810 Gain and loss Pancreatic cancer SNP array 17952125 PTPRG chr3 61741682 61741782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRG chr3 61762193 61762310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRG chr3 61805874 61806570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PTPRG chr3 6186606 6186706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 61872173 61872273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRG chr3 6187663 6198313 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 6188118 6198312 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 61925179 62706632 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf14,CADPS,FEZF2,LOC100506994,PTPRG chr3 61983248 61983331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PTPRG chr3 62016707 62824523 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C3orf14,CADPS,FEZF2,LOC100506994,PTPRG chr3 6205049 6217662 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 62085212 62085322 Gain and loss Pancreatic cancer SNP array 17952125 PTPRG chr3 62187107 62637893 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C3orf14,CADPS,FEZF2,LOC100506994,PTPRG chr3 62187401 62313900 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf14,LOC100506994,PTPRG chr3 62279751 62294358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506994,PTPRG chr3 62279751 62294358 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506994,PTPRG chr3 62279751 62294358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506994,PTPRG chr3 62280435 62294360 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LOC100506994,PTPRG chr3 62280436 62294358 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100506994,PTPRG chr3 62293053 62293153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100506994 chr3 62313901 63604200 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf14,CADPS,FEZF2,LOC285401,SYNPR,SYNPR-AS1 chr3 62328501 62339500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 62330386 62334230 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 62330387 62334230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 62330387 62334230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 62330407 62334061 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 62330407 62334061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 62359061 62836104 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CADPS,FEZF2 chr3 62359062 62836094 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CADPS,FEZF2 chr3 62359062 62836094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CADPS,FEZF2 chr3 62359062 62836094 Gain and loss Pancreatic cancer SNP array 17952125 CADPS,FEZF2 chr3 62359062 62836094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CADPS,FEZF2 chr3 62386085 62386173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADPS chr3 62390356 62390442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADPS chr3 62454593 62519880 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CADPS chr3 62457592 62487886 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CADPS chr3 62457592 62507658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CADPS chr3 62459627 62481418 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CADPS chr3 62462723 62462823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADPS chr3 62489781 63320060 Duplication Intellectual disability Array CGH 22102821 CADPS,LOC285401,SYNPR chr3 6249524 6294261 Gain Normal 244K array 17666407 NOT_FOUND chr3 62531908 62562539 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CADPS chr3 62531908 62580641 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CADPS chr3 62568206 62568297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADPS chr3 62585658 62587088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CADPS chr3 62645286 62645386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADPS chr3 62662468 62662568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADPS chr3 62682254 62710971 Copy number Lung cancer paired-end sequencing 18438408 CADPS chr3 62686270 62690909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CADPS chr3 62725041 75735906 Copy number Lung cancer paired-end sequencing 18438408 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,CADPS,CNTN3,EBLN2,EIF4E3,EOGT,FAM19A1,FAM19A4,FAM86DP,FLJ20518,FOXP1,FRG2C,FRMD4B,GPR27,GXYLT2,KBTBD8,LMOD3,LOC100287879,LOC201617,LOC285401,LOC401074,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR1324,MIR3136,MIR4272,MIR4444-1,MIR548A2,MITF,PDZRN3,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PROK2,PSMD6,PSMD6-AS2,RYBP,SHQ1,SLC25A26,SNTN,SUCLG2,SYNPR,SYNPR-AS1,THOC7,TMF1,UBA3 chr3 62756839 62757128 Gain and loss Pancreatic cancer SNP array 17952125 CADPS chr3 62756839 62757128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CADPS chr3 62775103 62775202 Gain and loss Pancreatic cancer SNP array 17952125 CADPS chr3 62775103 62775202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CADPS chr3 62824523 63632339 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CADPS,LOC285401,SYNPR,SYNPR-AS1 chr3 62887086 62887597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 62933093 62933193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 62935097 62967478 Loss Normal 244K array 17666407 NOT_FOUND chr3 6294263 6310460 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 62954267 66112555 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAMTS9,ADAMTS9-AS2,ATXN7,C3orf49,LOC100287879,LOC285401,MAGI1,MAGI1-AS1,MIR548A2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SNTN,SYNPR,SYNPR-AS1,THOC7 chr3 62954642 62954737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 62960430 65482848 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS9,ADAMTS9-AS2,ATXN7,C3orf49,LOC100287879,LOC285401,MAGI1,MIR548A2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SNTN,SYNPR,SYNPR-AS1,THOC7 chr3 62977088 62977188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63040085 63040185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63063403 63085775 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 6307926 6352801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 63094410 63280144 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC285401,SYNPR chr3 63108165 63110809 Loss Normal Birdsuite, version 1.5.2 22087296 LOC285401 chr3 63109897 63110349 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC285401 chr3 63112949 63130828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 6313515 6333607 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 63147319 63147391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63208789 63209007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63208906 63209006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63231571 63231708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 63295494 63295588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNPR chr3 63391975 63392075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPR chr3 63404044 63577636 Gain and loss Pancreatic cancer SNP array 17952125 SYNPR,SYNPR-AS1 chr3 63439181 63577636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNPR,SYNPR-AS1 chr3 63439181 63577636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNPR,SYNPR-AS1 chr3 63443348 63443448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPR,SYNPR-AS1 chr3 63475513 63475612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPR,SYNPR-AS1 chr3 63506156 63506236 Gain and loss Pancreatic cancer SNP array 17952125 SYNPR,SYNPR-AS1 chr3 63506156 63506236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNPR,SYNPR-AS1 chr3 63509834 63542938 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SYNPR,SYNPR-AS1 chr3 63540766 63540965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPR chr3 63540960 63541170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPR chr3 63548482 63548616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPR chr3 63593507 63627575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SYNPR chr3 63604201 63958400 Copy number Normal ReadDepth: A Parallel R Package 21305028 ATXN7,C3orf49,SNTN,THOC7 chr3 63613384 63625918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 63613384 63625918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 63613404 63624811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 63632339 63968929 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ATXN7,C3orf49,SNTN,THOC7 chr3 63656212 63656312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63693580 63743910 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 63700000 199501827 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADAMTS9,ADAMTS9-AS2,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARL6IP5,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,ATXN7,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf38,C3orf43,C3orf49,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CADM2,CADM2-AS2,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHMP2B,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,EOGT,EPHA3,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM19A1,FAM19A4,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FOXP1,FRG2C,FRMD4B,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KBTBD8,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LMOD3,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100287879,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRIG1,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAGI1,MAGI1-AS1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR1284,MIR1324,MIR15B,MIR16-2,MIR198,MIR3136,MIR3919,MIR3921,MIR4272,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4789,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A2,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MITF,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PDZRN3,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PPM1L,PPP1R2,PPP2R3A,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PSMD6,PSMD6-AS2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYBP,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A26,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCLG2,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THOC7,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMF1,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA3,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VGLL3,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 63700000 71800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,KBTBD8,LMOD3,LOC100287879,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63700000 71800000 Copy number Normal - 21701786 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,KBTBD8,LMOD3,LOC100287879,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63700000 71800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,KBTBD8,LMOD3,LOC100287879,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63700000 71800000 Duplication Mental retardation \N 21062444 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,KBTBD8,LMOD3,LOC100287879,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63700000 71800000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,KBTBD8,LMOD3,LOC100287879,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63700000 71800000 Loss Urothelial cell carcinoma FISH 18451213 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,KBTBD8,LMOD3,LOC100287879,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63700000 74200000 Deletion Mental retardation Infinium Human550-Quad and Human610-Quad arrays 20848658 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EBLN2,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,GPR27,GXYLT2,KBTBD8,LMOD3,LOC100287879,LOC201617,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PDZRN3,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PROK2,PSMD6,PSMD6-AS2,RYBP,SHQ1,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63700000 74200000 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EBLN2,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,GPR27,GXYLT2,KBTBD8,LMOD3,LOC100287879,LOC201617,LRIG1,MAGI1,MAGI1-AS1,MIR1284,MIR3136,MIR4272,MIR548A2,MITF,PDZRN3,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PROK2,PSMD6,PSMD6-AS2,RYBP,SHQ1,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63701869 63701953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 637345 637396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63780112 63809350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf49 chr3 63780188 63805768 Gain and loss Pancreatic cancer SNP array 17952125 C3orf49 chr3 6379108 6379197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63794585 63824637 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 C3orf49,THOC7 chr3 63794587 63824527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf49,THOC7 chr3 63794587 63824549 Gain and loss Pancreatic cancer SNP array 17952125 C3orf49,THOC7 chr3 63801928 64774986 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADAMTS9,ADAMTS9-AS2,ATXN7,C3orf49,LOC100287879,MIR548A2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,THOC7 chr3 6380587 6380687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63825266 63960884 Gain and loss Pancreatic cancer SNP array 17952125 ATXN7,C3orf49,THOC7 chr3 63825273 63961367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATXN7,C3orf49,THOC7 chr3 63825273 63961367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN7,C3orf49,THOC7 chr3 63825273 63961367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN7,C3orf49,THOC7 chr3 63833723 69246170 Deletion Breast cancer FISH 17142309 ADAMTS9,ADAMTS9-AS2,ARL6IP5,ATXN7,C3orf49,EOGT,FAM19A1,FAM19A4,FRMD4B,KBTBD8,LMOD3,LOC100287879,LRIG1,MAGI1,MAGI1-AS1,MIR3136,MIR4272,MIR548A2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2,SLC25A26,SUCLG2,THOC7,TMF1,UBA3 chr3 63865947 63903759 Loss Autism FISH 20685689 ATXN7 chr3 63873885 63874334 Loss Normal 244K array 17666407 ATXN7 chr3 63901108 63946341 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ATXN7 chr3 6390981 6391081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63922168 64073794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATXN7,LOC100287879,PRICKLE2-AS1,PSMD6,PSMD6-AS2 chr3 6395821 6395958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 6395830 6396065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 63958401 64945100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTS9,ADAMTS9-AS2,ATXN7,LOC100287879,MIR548A2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2 chr3 63966673 64073794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ATXN7,LOC100287879,PRICKLE2-AS1,PSMD6,PSMD6-AS2 chr3 63968929 64911381 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ADAMTS9,ADAMTS9-AS2,ATXN7,LOC100287879,MIR548A2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PSMD6,PSMD6-AS2 chr3 63971270 63984160 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ATXN7 chr3 63971271 63984189 Gain and loss Pancreatic cancer SNP array 17952125 ATXN7 chr3 63971271 63984551 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ATXN7 chr3 63971271 63984551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ATXN7 chr3 63971271 63984551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ATXN7 chr3 63998043 64073794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100287879,PRICKLE2-AS1,PSMD6 chr3 64013856 64073794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100287879,PRICKLE2-AS1 chr3 64024543 64073794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100287879,PRICKLE2-AS1 chr3 64025700 64073794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100287879,PRICKLE2-AS1 chr3 64032523 64032735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 64032524 64032735 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 64032524 64032735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 64039077 64048079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 64039077 64048079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 64039077 64048079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 64047590 64047964 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 64048133 64073794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100287879,PRICKLE2-AS1 chr3 6405198 6405629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 64053049 64073794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100287879,PRICKLE2-AS1 chr3 6405428 6405680 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 64054594 64186171 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC100287879,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3 chr3 64054594 64186171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100287879,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3 chr3 64054594 64186171 Gain and loss Pancreatic cancer SNP array 17952125 LOC100287879,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3 chr3 64054594 64186171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100287879,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3 chr3 64081185 64081285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRICKLE2,PRICKLE2-AS1 chr3 64117479 64515176 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS9,PRICKLE2,PRICKLE2-AS3 chr3 64135410 64135510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRICKLE2 chr3 64139851 64184763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRICKLE2,PRICKLE2-AS3 chr3 6419687 6451309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 64218836 64218936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 64242912 64242996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 64252657 64252757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 64254291 64280953 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 64265111 64299679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 643003 5447844 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARL8B,BHLHE40,CNTN4,CNTN4-AS2,CNTN6,CRBN,EDEM1,EGOT,IL5RA,ITPR1,LOC100507582,LRRN1,MIR4790,SETMAR,SUMF1,TRNT1 chr3 64324432 64324532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 64353586 65716921 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ADAMTS9,ADAMTS9-AS2,MAGI1,MIR548A2 chr3 6437244 8292630 Copy number gain Normal High-resolution SNP genotyping 21211785 GRM7,LOC100288428 chr3 64472470 64472570 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 64472471 64472573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 64476373 64648405 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ADAMTS9 chr3 64476373 64648405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS9 chr3 64476373 64648405 Gain and loss Pancreatic cancer SNP array 17952125 ADAMTS9 chr3 64476373 64648405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAMTS9 chr3 64565291 64566291 Loss Chordoma References 21215367 ADAMTS9 chr3 6461145 7111864 LOH Normal High-resolution SNP genotyping 21211785 GRM7 chr3 64645501 64647000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADAMTS9 chr3 64683154 65959378 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAMTS9-AS2,MAGI1,MAGI1-AS1,MIR548A2 chr3 64878404 64878504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTS9-AS2,MIR548A2 chr3 64913222 64947180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADAMTS9-AS2,MIR548A2 chr3 64929756 64931549 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ADAMTS9-AS2,MIR548A2 chr3 64991888 64991988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAMTS9-AS2 chr3 65087649 65087749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 65091101 65096500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 65092123 65099053 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 65098045 65098544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 65163493 65174730 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 65163888 65189649 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 65163888 65189649 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 65163888 65189649 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 65163888 65190284 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 65163888 65190284 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 65163888 65190284 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 65163909 65189791 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 65163910 65189788 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 65163961 65189775 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 65164263 65174730 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 65164263 65185480 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 65164275 65174911 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 65164275 65185492 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 65164446 65189705 Loss Normal 244K array 17666407 NOT_FOUND chr3 65166887 65187636 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr3 65166887 65187636 Copy number Normal - 20703242 NOT_FOUND chr3 65166887 65187636 Copy number Type 2 diabetes ILLumia HumanHap312 BeadChip 21526130 NOT_FOUND chr3 65166887 65190844 Deletion Nasopharyngeal cancer PennCNV 20548289 NOT_FOUND chr3 65171285 65185480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 65173995 65185480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 65174911 65185492 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 65314946 65999023 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MAGI1,MAGI1-AS1 chr3 65314946 65999023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAGI1,MAGI1-AS1 chr3 65314946 65999023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI1,MAGI1-AS1 chr3 65317093 65999023 Gain and loss Pancreatic cancer SNP array 17952125 MAGI1,MAGI1-AS1 chr3 653347 2410721 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN4,CNTN4-AS2,CNTN6 chr3 65337571 65337671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 65354756 65354835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGI1 chr3 65386357 65386451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGI1 chr3 65390626 65748270 Loss Urothelial carcinoma array CGH validated by FISH 21177765 MAGI1 chr3 65390694 65390794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGI1 chr3 65416690 65418143 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAGI1 chr3 65515400 65532559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAGI1 chr3 65530707 65641243 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 MAGI1 chr3 65548217 65548765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI1 chr3 65551356 65959378 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MAGI1,MAGI1-AS1 chr3 65622746 65622831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGI1 chr3 65647659 65852131 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 MAGI1 chr3 65674445 65725692 Loss Autism - 20841430 MAGI1 chr3 65676663 65707174 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAGI1 chr3 65703798 65703898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGI1 chr3 65713504 68660540 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 FAM19A1,KBTBD8,LRIG1,MAGI1,MAGI1-AS1,MIR4272,SLC25A26,SUCLG2 chr3 65729682 65729745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGI1 chr3 65730291 65897025 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MAGI1,MAGI1-AS1 chr3 6574392 6574492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 657801 3036000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CNTN4,CNTN4-AS2,CNTN6 chr3 65782031 67379307 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 KBTBD8,LRIG1,MAGI1,MAGI1-AS1,MIR4272,SLC25A26 chr3 65832651 65832741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGI1 chr3 65899696 65929912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MAGI1,MAGI1-AS1 chr3 65900063 65900163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAGI1,MAGI1-AS1 chr3 65901795 65902081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI1,MAGI1-AS1 chr3 65964554 65964655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI1 chr3 65964556 65964655 Gain and loss Pancreatic cancer SNP array 17952125 MAGI1 chr3 65964558 65964654 Gain and loss Pancreatic cancer SNP array 17952125 MAGI1 chr3 65969485 65969915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAGI1 chr3 66024285 66024598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAGI1 chr3 66025636 66025716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 66029617 66030553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 66068710 66068804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 6609724 6627101 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 66124248 66124303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A26 chr3 6621532 6630065 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 6625271 6629513 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 6625461 6625561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 6626128 6628332 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 6626128 6628332 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 6628332 6630430 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 66375255 66375355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A26 chr3 66376316 66512038 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 LRIG1,SLC25A26 chr3 66376317 66512039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRIG1,SLC25A26 chr3 66376317 66512039 Gain and loss Pancreatic cancer SNP array 17952125 LRIG1,SLC25A26 chr3 66376317 66512039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRIG1,SLC25A26 chr3 6637646 6667581 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 66394545 72344534 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARL6IP5,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,GPR27,KBTBD8,LMOD3,LOC201617,LRIG1,MIR1284,MIR3136,MIR4272,MITF,PROK2,SLC25A26,SUCLG2,TMF1,UBA3 chr3 66411479 66652698 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRIG1,SLC25A26 chr3 66411479 66652698 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LRIG1,SLC25A26 chr3 66426228 66426334 Gain and loss Pancreatic cancer SNP array 17952125 SLC25A26 chr3 66426228 66426334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC25A26 chr3 66428578 66428610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A26 chr3 66432005 66432090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIG1 chr3 66443719 66558558 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LRIG1 chr3 66456969 66457264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRIG1 chr3 66456969 66457266 Gain and loss Pancreatic cancer SNP array 17952125 LRIG1 chr3 66456970 66457246 Gain and loss Pancreatic cancer SNP array 17952125 LRIG1 chr3 66466034 66466134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIG1 chr3 66469885 66469969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIG1 chr3 66470078 66470178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIG1 chr3 6648897 6667581 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 664914 46392701 Copy number Lung cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR3,CCR4,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 664914 46392701 Gain or loss Breast cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR3,CCR4,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 664914 46392701 Gain or loss Cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR3,CCR4,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 664914 46392701 Gain or loss Lung cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR3,CCR4,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 664914 46392701 Gain or loss Ovarian cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR3,CCR4,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 664914 46392701 Gain or loss Pancreas cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR3,CCR4,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 664914 46392701 Gain or loss Prostate cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR3,CCR4,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 66502009 66502109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRIG1 chr3 66511912 66634041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRIG1 chr3 66511912 66634041 Gain and loss Pancreatic cancer SNP array 17952125 LRIG1 chr3 66511912 66634041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRIG1 chr3 66524310 71438751 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ARL6IP5,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,KBTBD8,LMOD3,LRIG1,MIR3136,MIR4272,MITF,SUCLG2,TMF1,UBA3 chr3 66563257 66563354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 66671088 66671123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 66701476 66701532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 66726045 66752707 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 6674001 6678100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 6675871 6676253 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 66770263 66770656 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 66770263 66770656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 66841423 67435566 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KBTBD8,MIR4272,SUCLG2 chr3 66841423 68831828 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM19A1,FAM19A4,KBTBD8,MIR4272,SUCLG2 chr3 67113660 67113735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 67113804 67113899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 67131416 67144320 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 67131420 67144322 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 67131420 67144322 Gain or loss Cancer - 20668451 NOT_FOUND chr3 67131420 67144322 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 67131420 67144322 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 67131420 67144322 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 67131420 67144322 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 67131421 67144324 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 67132093 67144324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 67132093 67144324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 67150476 67150576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 67276200 72402720 Deletion Autism Array CGH 22102821 ARL6IP5,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,GPR27,LMOD3,LOC201617,MIR1284,MIR3136,MITF,PROK2,SUCLG2,TMF1,UBA3 chr3 67316754 67316844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 67377746 67377841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 6740522 6740622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 67409363 67499993 Gain Stenocardia MACArray Karyo 16K BAC-chips 21860640 SUCLG2 chr3 67409363 67499993 Gain Vasospasm MACArray Karyo 16K BAC-chips 21860640 SUCLG2 chr3 67440981 67441081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUCLG2 chr3 67454723 67486094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUCLG2 chr3 67507835 67787728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SUCLG2 chr3 67507835 67787728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SUCLG2 chr3 67507836 67787728 Gain and loss Pancreatic cancer SNP array 17952125 SUCLG2 chr3 67574501 67581400 Deletion Glioma mate-paired sequence 20126413 SUCLG2 chr3 67575976 67600631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SUCLG2 chr3 67576386 67579488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUCLG2 chr3 67598385 67598485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SUCLG2 chr3 67644882 67646298 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUCLG2 chr3 67644893 67646308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SUCLG2 chr3 67691039 69982057 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARL6IP5,EOGT,FAM19A1,FAM19A4,FRMD4B,LMOD3,MIR3136,MITF,SUCLG2,TMF1,UBA3 chr3 67726353 67726480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 67840077 67840177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 67869500 67869600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 67915304 67915633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 67967527 67967650 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 67967527 67967650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 68013447 68013520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 68042915 68043010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68042964 68043055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68050792 68050892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68060674 68171700 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 FAM19A1 chr3 68066336 68066436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68088220 68088282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68103267 68103357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68109570 68109670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68138460 68670724 Gain and loss Pancreatic cancer SNP array 17952125 FAM19A1 chr3 68138460 68689160 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM19A1 chr3 68138460 68689160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A1 chr3 68161947 68195484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A1 chr3 68180613 68215200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A1 chr3 68276844 68277473 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FAM19A1 chr3 68276844 68277473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM19A1 chr3 68411990 68412090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68428783 68428883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A1 chr3 68561452 72819381 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ARL6IP5,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,GPR27,LMOD3,LOC201617,MIR1284,MIR3136,MITF,PROK2,RYBP,SHQ1,TMF1,UBA3 chr3 68607880 68607980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 68614345 68828854 Gain Normal Birdsuite, version 1.5.2 22087296 FAM19A4 chr3 68668414 68668513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 68677982 68678082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 68690702 68726957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 68692363 68830103 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 6870013 6870122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 68704133 68830103 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 68712135 68724293 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr3 68712135 68724293 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 68712334 68728352 Copy number Alcoholism Illumina Human Hap665W-Quad BeadChip 21790672 NOT_FOUND chr3 68712334 68728352 Copy number Normal - 21790672 NOT_FOUND chr3 68712334 68830103 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 68712334 68831448 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 68714026 68732419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 68714490 68727233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 68714679 68722940 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 68716831 68736253 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 68717461 68722943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 68746040 68746140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 68766757 68766850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 6877926 7758217 Copy number Lung cancer - 20668451 GRM7 chr3 6877926 7758217 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 GRM7 chr3 6877926 7758217 Gain or loss Breast cancer - 20668451 GRM7 chr3 6877926 7758217 Gain or loss Cancer - 20668451 GRM7 chr3 6877926 7758217 Gain or loss Lung cancer - 20668451 GRM7 chr3 6877926 7758217 Gain or loss Ovarian cancer - 20668451 GRM7 chr3 6877926 7758217 Gain or loss Pancreas cancer - 20668451 GRM7 chr3 6877926 7758217 Gain or loss Prostate cancer - 20668451 GRM7 chr3 6878075 7758217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRM7 chr3 6878075 7758217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRM7 chr3 6878076 7719920 Gain and loss Pancreatic cancer SNP array 17952125 GRM7 chr3 68803145 68830091 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM19A4 chr3 68803611 68845727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A4 chr3 68805918 68830091 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM19A4 chr3 68807370 68830091 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM19A4 chr3 68808430 68831435 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 FAM19A4 chr3 68810286 68840885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A4 chr3 68811511 68831828 Copy number Alcoholism Illumina Human Hap660W-Quad BeadChip 21790672 FAM19A4 chr3 68811511 68831828 Copy number Normal - 21790672 FAM19A4 chr3 68814112 68836468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A4 chr3 68814521 68844853 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A4 chr3 68814706 68829921 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM19A4 chr3 68814706 68830091 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM19A4 chr3 68814707 68831463 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 FAM19A4 chr3 68815359 68831115 Substitutions and indels small cell lung cancer array-CGH 20016488 FAM19A4 chr3 68816561 68851754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A4 chr3 68820301 68832400 Deletion Glioma mate-paired sequence 20126413 FAM19A4 chr3 68820349 68834506 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A4 chr3 68821222 68837022 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM19A4 chr3 68821476 68830710 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 FAM19A4 chr3 68821476 68830710 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FAM19A4 chr3 68821834 68830833 Deletion Normal TaqMan assays 20972442 FAM19A4 chr3 68822189 68830557 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FAM19A4 chr3 68822373 68830548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A4 chr3 68822379 68830554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A4 chr3 68828842 68830091 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 68828854 68830103 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 68828854 68830103 Gain Normal Birdsuite, version 1.5.2 22087296 FAM19A4 chr3 68828854 68831755 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 68828937 68830091 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 68828949 68830103 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FAM19A4 chr3 68830103 68990246 Gain Normal Birdsuite, version 1.5.2 22087296 FAM19A4 chr3 68836095 75840843 Substitutions and indels small cell lung cancer array-CGH 20016488 ARL6IP5,CNTN3,EBLN2,EIF4E3,EOGT,FAM19A4,FAM86DP,FLJ20518,FOXP1,FRG2C,FRMD4B,GPR27,GXYLT2,LMOD3,LOC201617,LOC401074,MIR1284,MIR1324,MIR3136,MIR4273,MIR4444-1,MITF,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1,TMF1,UBA3,ZNF717 chr3 68846707 86665129 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ARL6IP5,CADM2,CADM2-AS2,CNTN3,EBLN2,EIF4E3,EOGT,FAM19A4,FAM86DP,FLJ20518,FOXP1,FRG2C,FRMD4B,GBE1,GPR27,GXYLT2,LMOD3,LOC201617,LOC401074,LOC440970,MIR1284,MIR1324,MIR3136,MIR4273,MIR4444-1,MIR5688,MITF,PDZRN3,PPP4R2,PROK2,RNU6-69,ROBO1,ROBO2,RYBP,SHQ1,TMF1,UBA3,ZNF717 chr3 68863608 69064401 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 EOGT,FAM19A4 chr3 68863608 69064401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EOGT,FAM19A4 chr3 68863608 69064401 Gain and loss Pancreatic cancer SNP array 17952125 EOGT,FAM19A4 chr3 68863608 69064401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EOGT,FAM19A4 chr3 68915910 68916010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM19A4 chr3 68953168 68953457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A4 chr3 68972895 68973185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM19A4 chr3 6902801 7783218 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 GRM7 chr3 69076338 69096852 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 TMF1 chr3 69087530 121098065 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD10,ABI3BP,ADPRH,ALCAM,ARHGAP31,ARL13B,ARL6,ARL6IP5,ATG3,ATP6V1A,B4GALT4,BBX,BOC,BTLA,C3orf17,C3orf30,C3orf38,C3orf52,CADM2,CADM2-AS2,CBLB,CCDC54,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD96,CEP97,CGGBP1,CHMP2B,CLDND1,CMSS1,CNTN3,COL8A1,COX17,CPOX,CRYBG3,DCBLD2,DHFRL1,DPPA2,DPPA4,DRD3,DZIP3,EBLN2,EIF4E3,EPHA3,EPHA6,FAM172BP,FAM86DP,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FOXP1,FRG2C,FRMD4B,FSTL1,GABRR3,GAP43,GBE1,GCSAM,GPR128,GPR15,GPR156,GPR27,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,HGD,HHLA2,HTR1F,IFT57,IGSF11,IGSF11-AS1,IMPG2,KIAA1407,KIAA1524,KIAA2018,LINC00488,LINC00635,LINC00636,LMOD3,LNP1,LOC100009676,LOC100302640,LOC152225,LOC201617,LOC255025,LOC285359,LOC344595,LOC401074,LOC440970,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MINA,MIR1284,MIR1324,MIR198,MIR3136,MIR3921,MIR4273,MIR4444-1,MIR4446,MIR4795,MIR4796,MIR548A3,MIR548G,MIR567,MIR568,MIR5688,MITF,MORC1,MYH15,NAA50,NDUFB4,NFKBIZ,NIT2,NR1I2,NSUN3,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PCNP,PDZRN3,PHLDB2,PLA1A,PLCXD2,POGLUT1,POPDC2,POU1F1,PPP4R2,PROK2,PROS1,PVRL3,PVRL3-AS1,QTRTD1,RABL3,RETNLB,RNU6-69,ROBO1,ROBO2,RPL24,RYBP,SENP7,SHQ1,SIDT1,SLC35A5,SLC9C1,SPICE1,ST3GAL6,ST3GAL6-AS1,STX19,STXBP5L,TAGLN3,TBC1D23,TFG,TIGIT,TIMMDC1,TMEM30C,TMEM39A,TMEM45A,TMF1,TMPRSS7,TOMM70A,TRAT1,TRMT10C,UBA3,UPK1B,VGLL3,WDR52,WDR52-AS1,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF654,ZNF717,ZNF80,ZPLD1 chr3 69107056 69145509 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL6IP5,UBA3 chr3 69107056 69145509 Gain and loss Pancreatic cancer SNP array 17952125 ARL6IP5,UBA3 chr3 69107056 69145509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL6IP5,UBA3 chr3 69107057 69145464 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ARL6IP5,UBA3 chr3 69107068 69144284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL6IP5,UBA3 chr3 69107068 69144284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL6IP5,UBA3 chr3 69147007 69147095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARL6IP5 chr3 69151667 69184174 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 ARL6IP5,LMOD3 chr3 69151670 69184174 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARL6IP5,LMOD3 chr3 69151670 69184174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARL6IP5,LMOD3 chr3 69151670 69184174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARL6IP5,LMOD3 chr3 69151778 69151878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARL6IP5 chr3 69155018 69183927 Gain and loss Pancreatic cancer SNP array 17952125 ARL6IP5,LMOD3 chr3 69186570 69212214 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 69186572 69212214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 69186572 69212214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 69186572 69212214 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 69186572 69212214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 69187442 87263505 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CADM2,CADM2-AS2,CNTN3,EBLN2,EIF4E3,FAM86DP,FLJ20518,FOXP1,FRG2C,FRMD4B,GBE1,GPR27,GXYLT2,LOC201617,LOC401074,LOC440970,MIR1284,MIR1324,MIR4273,MIR4444-1,MIR5688,MITF,PDZRN3,PPP4R2,PROK2,RNU6-69,ROBO1,ROBO2,RYBP,SHQ1,VGLL3,ZNF717 chr3 69215244 69870404 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FRMD4B,MITF chr3 69216779 69237929 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FRMD4B chr3 69216780 69237927 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FRMD4B chr3 69216780 69237927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD4B chr3 69216780 69237927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4B chr3 69216785 69237907 Gain and loss Pancreatic cancer SNP array 17952125 FRMD4B chr3 69238728 69254436 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FRMD4B chr3 69250392 69254407 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FRMD4B chr3 69250392 69254407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4B chr3 69250864 69254436 Gain and loss Pancreatic cancer SNP array 17952125 FRMD4B chr3 69298259 69308278 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FRMD4B chr3 69301835 69518120 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FRMD4B chr3 69301835 69518120 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 FRMD4B chr3 69301836 69518120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FRMD4B chr3 69301836 69518120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4B chr3 69302109 69517914 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FRMD4B chr3 69302109 69517914 Gain and loss Pancreatic cancer SNP array 17952125 FRMD4B chr3 69308335 69338356 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FRMD4B chr3 69336322 71235387 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FOXP1,FRMD4B,MITF chr3 69342592 69342681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4B chr3 69342617 69342722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4B chr3 69362873 69362970 Gain and loss Pancreatic cancer SNP array 17952125 FRMD4B chr3 69362873 69362970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRMD4B chr3 693996 694096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 69406565 69441936 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRMD4B chr3 69416543 69416643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FRMD4B chr3 69475497 69475597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 6952680 6952760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 69561519 69577576 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 69582564 69582644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 69603288 69604267 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 69629688 69629788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 69665973 69666073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 69670000 79190000 Loss Acute lymphoblastic leukemia - 21339820 CNTN3,EBLN2,EIF4E3,FAM86DP,FLJ20518,FOXP1,FRG2C,GPR27,GXYLT2,LOC201617,LOC401074,MIR1284,MIR1324,MIR4273,MIR4444-1,MITF,PDZRN3,PPP4R2,PROK2,ROBO1,ROBO2,RYBP,SHQ1,ZNF717 chr3 6969753 8451483 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GRM7,LOC100288428 chr3 69788586 70017488 Amplification Malignant glioma FISH 16001072 MITF chr3 69800000 74200000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 EBLN2,EIF4E3,FOXP1,GPR27,GXYLT2,LOC201617,MIR1284,MITF,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1 chr3 69800000 74200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 EBLN2,EIF4E3,FOXP1,GPR27,GXYLT2,LOC201617,MIR1284,MITF,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1 chr3 69800000 74200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 EBLN2,EIF4E3,FOXP1,GPR27,GXYLT2,LOC201617,MIR1284,MITF,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1 chr3 69800000 74200000 Loss Mental retardation Array CGH 17847001 EBLN2,EIF4E3,FOXP1,GPR27,GXYLT2,LOC201617,MIR1284,MITF,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1 chr3 69838257 69982057 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MITF chr3 69848720 69848810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MITF chr3 69860000 73000000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 EIF4E3,FOXP1,GPR27,GXYLT2,LOC201617,MIR1284,MITF,PROK2,RYBP,SHQ1 chr3 69871276 70100177 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MITF chr3 69871276 70100177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MITF chr3 69871276 70100177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MITF chr3 69871322 70100177 Gain or loss Breast cancer - 20668451 MITF chr3 69871322 70100177 Gain or loss Cancer - 20668451 MITF chr3 69871322 70100177 Gain or loss Lung cancer - 20668451 MITF chr3 69871322 70100177 Gain or loss Ovarian cancer - 20668451 MITF chr3 69871322 70100177 Gain or loss Pancreas cancer - 20668451 MITF chr3 69871322 70100177 Gain or loss Prostate cancer - 20668451 MITF chr3 69871323 70100174 Gain and loss Pancreatic cancer SNP array 17952125 MITF chr3 69885287 70042246 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MITF chr3 69900449 69913687 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MITF chr3 69901329 69901613 Gain and loss Pancreatic cancer SNP array 17952125 MITF chr3 69901329 69901613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MITF chr3 69947120 69947220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MITF chr3 69948334 69948434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MITF chr3 69985950 69986050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MITF chr3 70037292 70037386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 70096165 70096577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 70099311 70114726 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 70099311 70114726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 70143219 70143319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 701912 46426018 Gain or loss Breast cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 701912 46426018 Gain or loss Cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 701912 46426018 Gain or loss Lung cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 701912 46426018 Gain or loss Ovarian cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 701912 46426018 Gain or loss Pancreas cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 701912 46426018 Gain or loss Prostate cancer - 20668451 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ANKRD28,ANO10,ARL8B,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BHLHE40,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf32,C3orf35,C3orf77,CAMK1,CAND2,CAPN7,CAV3,CCBP2,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN4,CNTN4-AS2,CNTN6,COL6A4P1,COLQ,CPNE9,CRBN,CRELD1,CRTAP,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DLEC1,DPH3,DYNC1LI1,EAF1,EDEM1,EFHB,EGOT,EIF1B,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IL5RA,IQSEC1,IRAK2,ITGA9,ITPR1,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KRBOX1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC100505696,LOC100507582,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LRRFIP2,LRRN1,LSM3,LYZL4,LZTFL1,METTL6,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4790,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYRIP,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,SACM1L,SATB1,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD5,SETMAR,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SRGAP3,SS18L2,STAC,STT3B,SUMF1,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TRNT1,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 70229264 71260391 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FOXP1 chr3 70229264 71492702 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FOXP1 chr3 70249956 70250056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 7025316 7025402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 70257613 70258390 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 7028047 7028127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 70383484 70383586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 70409598 70454799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 70474520 70478159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 70497796 70498130 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 70531859 70531958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 70563048 70608087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 70597661 70597761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 70649075 70649175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 70707414 70707507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 70746995 70747453 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 70746995 70747453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 70752228 70752267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 70753740 73056471 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 EIF4E3,FOXP1,GPR27,GXYLT2,LOC201617,MIR1284,PPP4R2,PROK2,RYBP,SHQ1 chr3 7078726 7078826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 70822025 70822114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 70834044 70858771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 70839013 70854210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 70905471 70905571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 70940191 70940293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 70940191 70940293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 70966648 70985784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 71007913 71008013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71010501 71010633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXP1 chr3 710221 721999 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 71022925 71055448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FOXP1 chr3 71026983 71027065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71087426 71715830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FOXP1,MIR1284 chr3 71087426 71715830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FOXP1,MIR1284 chr3 71087426 71715830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FOXP1,MIR1284 chr3 71088616 71715830 Gain and loss Pancreatic cancer SNP array 17952125 FOXP1,MIR1284 chr3 71090029 71119919 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 FOXP1 chr3 71098662 71098762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71101824 71790822 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-393K arrays 21546498 EIF4E3,FOXP1,MIR1284 chr3 71146551 71146651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 711530 718726 Copy number Autism exome sequencing 22495311 NOT_FOUND chr3 71172842 76611609 Loss Prostate cancer Array CGH 18632612 CNTN3,EBLN2,EIF4E3,FAM86DP,FLJ20518,FOXP1,FRG2C,GPR27,GXYLT2,LOC201617,LOC401074,MIR1284,MIR1324,MIR4273,MIR4444-1,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1,ZNF717 chr3 71209287 71209387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71230702 71608378 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 FOXP1,MIR1284 chr3 71242809 77832202 Deletion Intellectual disability Array CGH 22102821 CNTN3,EBLN2,EIF4E3,FAM86DP,FLJ20518,FOXP1,FRG2C,GPR27,GXYLT2,LOC201617,LOC401074,MIR1284,MIR1324,MIR4273,MIR4444-1,PDZRN3,PPP4R2,PROK2,ROBO2,RYBP,SHQ1,ZNF717 chr3 71243505 72132566 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 EIF4E3,FOXP1,GPR27,MIR1284,PROK2 chr3 71276619 71682261 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 FOXP1,MIR1284 chr3 7130250 7130365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 7130385 7130582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 7130415 7130510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 71329723 71715830 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FOXP1,MIR1284 chr3 7133468 7133597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 71354948 71355044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71364011 71364111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71423189 71423289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71444404 71444504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71462510 71462549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71463191 71463261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71466720 71780539 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-419K arrays 21546498 EIF4E3,FOXP1,MIR1284 chr3 71485754 71485854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71487095 71497055 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FOXP1 chr3 71516187 71516287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 715488 823802 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 71563902 71563982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71571726 71571826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FOXP1 chr3 71600121 71645527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FOXP1 chr3 71618028 199322068 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf38,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CADM2,CADM2-AS2,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHMP2B,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4E3,EIF4G1,EIF5A2,EPHA3,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86DP,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FOXP1,FRG2C,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR27,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201617,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC401109,LOC440970,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR1324,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4789,MIR4795,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR5688,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PDZRN3,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PPM1L,PPP1R2,PPP2R3A,PPP4R2,PRKCI,PROK2,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYBP,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VGLL3,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 71636572 71636672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 71673811 71673930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 71690692 71724713 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 71696602 71696702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 7170465 7170565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 71705139 95301818 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARL13B,C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,CNTN3,DHFRL1,EBLN2,EIF4E3,EPHA3,FAM86DP,FLJ20518,FRG2C,GBE1,GPR27,GXYLT2,HTR1F,LOC201617,LOC255025,LOC401074,LOC440970,MIR1324,MIR4273,MIR4444-1,MIR4795,MIR5688,NSUN3,PDZRN3,POU1F1,PPP4R2,PROK2,PROS1,RNU6-69,ROBO1,ROBO2,RYBP,SHQ1,STX19,VGLL3,ZNF654,ZNF717 chr3 71727766 71727866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 71774873 71774921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EIF4E3 chr3 71800000 74200000 Deletion Biliary cancer Array CGH 19435499 EBLN2,EIF4E3,GPR27,GXYLT2,LOC201617,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1 chr3 71800000 74200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 EBLN2,EIF4E3,GPR27,GXYLT2,LOC201617,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1 chr3 71800000 74200000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 EBLN2,EIF4E3,GPR27,GXYLT2,LOC201617,PDZRN3,PPP4R2,PROK2,RYBP,SHQ1 chr3 71800000 91700000 Loss Metanephric adenoma Oligo aCGH 20802469 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,CNTN3,EBLN2,EIF4E3,EPHA3,FAM86DP,FLJ20518,FRG2C,GBE1,GPR27,GXYLT2,HTR1F,LOC201617,LOC401074,LOC440970,MIR1324,MIR4273,MIR4444-1,MIR4795,MIR5688,PDZRN3,POU1F1,PPP4R2,PROK2,RNU6-69,ROBO1,ROBO2,RYBP,SHQ1,VGLL3,ZNF654,ZNF717 chr3 71814567 71886614 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 PROK2 chr3 71814570 71885465 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PROK2 chr3 71814570 71885465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PROK2 chr3 71814570 71885465 Gain and loss Pancreatic cancer SNP array 17952125 PROK2 chr3 71814570 71885465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PROK2 chr3 71837290 71837390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 7183953 7197236 Deletion Attention deficit hyperactivity disorder - 22138692 GRM7 chr3 7183953 7197236 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 GRM7 chr3 71850103 71911932 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 NOT_FOUND chr3 71885172 71885341 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr3 71885891 71887018 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 71885891 71887018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 71885891 71887018 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 71885891 71887018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 71903497 71916902 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 71903497 71916902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 71903497 71916902 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 71903497 71916902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 71931063 71931156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 71945662 71945761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 71959018 71959304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 71959018 71959311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 71959018 71959311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 71978501 72838700 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC201617,RYBP,SHQ1 chr3 72001092 72001190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 72100000 150400000 Deletion Bipolar disorder whole-organ genomic mapping strategy 18458673 A4GNT,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ADCY5,ADPRH,AGTR1,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ANKUB1,ARGFX,ARHGAP31,ARL13B,ARL6,ARMC8,ASTE1,ATG3,ATP1B3,ATP2C1,ATP6V1A,ATR,B4GALT4,BBX,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf38,C3orf52,C3orf58,C3orf72,CADM2,CADM2-AS2,CASR,CBLB,CCDC14,CCDC37,CCDC48,CCDC54,CCDC58,CCDC80,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHMP2B,CHST13,CHST2,CLDN18,CLDND1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPNE4,CPOX,CRYBG3,CSTA,DBR1,DCBLD2,DHFRL1,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DPPA2,DPPA4,DRD3,DTX3L,DZIP1L,DZIP3,EAF2,EBLN2,EEFSEC,EFCAB12,EIF2A,EPHA3,EPHA6,EPHB1,ESYT3,FAIM,FAM162A,FAM172BP,FAM194A,FAM86DP,FAM86HP,FAM86JP,FBXO40,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FOXL2,FRG2C,FSTL1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GK5,GOLGB1,GP9,GPR128,GPR15,GPR156,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HSPBAP1,HTR1F,IFT122,IFT57,IGSF11,IGSF11-AS1,IL20RB,ILDR1,IMPG2,IQCB1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,KY,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100129550,LOC100289361,LOC100302640,LOC100507032,LOC100507389,LOC152225,LOC201617,LOC255025,LOC285359,LOC339874,LOC344595,LOC401074,LOC440970,LOC646903,LOC653712,LOC90246,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MBD4,MCM2,MGLL,MINA,MIR1324,MIR198,MIR3921,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4795,MIR4796,MIR5002,MIR5092,MIR548A3,MIR548G,MIR548I1,MIR567,MIR568,MIR5688,MIR5704,MORC1,MRAS,MRPL3,MRPS22,MSL2,MUC13,MYH15,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NFKBIZ,NIT2,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,PAQR9,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PDIA5,PDZRN3,PFN2,PHLDB2,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCXD2,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,POU1F1,PPP2R3A,PPP4R2,PROS1,PRR23A,PRR23B,PRR23C,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RASA2,RBP1,RBP2,RETNLB,RHO,RNF13,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL24,RPL32P3,RPN1,RUVBL1,RYBP,RYK,SEC22A,SEC61A1,SELT,SEMA5B,SENP7,SERP1,SHQ1,SIDT1,SLC12A8,SLC15A2,SLC25A36,SLC35A5,SLC35G2,SLC41A3,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SNORA58,SNORA7B,SNX4,SOX14,SPICE1,SPSB4,SRPRB,ST3GAL6,ST3GAL6-AS1,STAG1,STX19,STXBP5L,TAGLN3,TBC1D23,TF,TFDP2,TFG,TIGIT,TIMMDC1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM30C,TMEM39A,TMEM45A,TMPRSS7,TOMM70A,TOPBP1,TPRA1,TRAT1,TRH,TRIM42,TRMT10C,TRPC1,TSC22D2,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UPK1B,UROC1,VGLL3,WDR52,WDR52-AS1,WDR5B,WWTR1,WWTR1-AS1,XRN1,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZIC1,ZIC4,ZNF148,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 72100000 189400000 Gain Breast cancer array-CGH 22032731 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKUB1,AP2M1,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf38,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CADM2,CADM2-AS2,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP70,CEP97,CGGBP1,CHCHD6,CHMP2B,CHRD,CHST13,CHST2,CLCN2,CLDN11,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,CNTN3,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,EBLN2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA3,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM162A,FAM172BP,FAM194A,FAM86DP,FAM86HP,FAM86JP,FBXO40,FETUB,FILIP1L,FLJ20518,FLJ22763,FLJ25363,FLJ42393,FLJ46066,FNDC3B,FOXL2,FRG2C,FSTL1,FXR1,GABRR3,GAP43,GATA2,GBE1,GCSAM,GFM1,GHSR,GK5,GMPS,GNB4,GOLGB1,GOLIM4,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GXYLT2,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRG,HSPBAP1,HTR1F,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL20RB,ILDR1,IMPG2,IQCB1,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LNP1,LOC100009676,LOC100128164,LOC100129550,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507537,LOC152225,LOC201617,LOC201651,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401074,LOC401093,LOC440970,LOC646168,LOC646903,LOC647107,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRRC31,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFN1,MFSD1,MGLL,MINA,MIR1224,MIR1248,MIR1324,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4273,MIR4444-1,MIR4446,MIR4788,MIR4789,MIR4795,MIR4796,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR5688,MIR569,MIR5704,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PDCD10,PDIA5,PDZRN3,PEX5L,PFN2,PHC3,PHLDB2,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,POU1F1,PPM1L,PPP2R3A,PPP4R2,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF7,RNU6-69,ROBO1,ROBO2,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYBP,RYK,SAMD7,SCARNA7,SCHIP1,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SHQ1,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TERC,TF,TFDP2,TFG,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM45A,TMPRSS7,TNFSF10,TNIK,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UPK1B,UROC1,USP13,VEPH1,VGLL3,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR5B,WWTR1,WWTR1-AS1,XRN1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF654,ZNF717,ZNF80,ZPLD1,ZXDC chr3 72132566 73041714 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 GXYLT2,LOC201617,RYBP,SHQ1 chr3 72187472 90346746 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-414K arrays 21546498 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,CNTN3,EBLN2,EPHA3,FAM86DP,FLJ20518,FRG2C,GBE1,GXYLT2,HTR1F,LOC201617,LOC401074,LOC440970,MIR1324,MIR4273,MIR4444-1,MIR4795,MIR5688,PDZRN3,POU1F1,PPP4R2,RNU6-69,ROBO1,ROBO2,RYBP,SHQ1,VGLL3,ZNF654,ZNF717 chr3 72218731 72219573 Gain and loss Pancreatic cancer SNP array 17952125 LOC201617 chr3 72218780 72219495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC201617 chr3 72281147 72281247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 72344534 72936713 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 RYBP,SHQ1 chr3 72394163 72394269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 72432556 72432656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYBP chr3 72449343 72449387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYBP chr3 72462401 72462696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RYBP chr3 72467001 72473000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RYBP chr3 7248047 7260992 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GRM7 chr3 72486986 72487086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYBP chr3 72495201 72495301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RYBP chr3 72506438 72578464 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 72506438 72578464 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 72506438 72578464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 72506438 72578464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 72506448 72578464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 72598402 72598434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 72662037 72662131 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 72708532 72708695 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 72708532 72708695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 72711578 72711678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 72782590 72782690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 72790543 89566958 Loss Wilms tumour 250K Genotyping Arrays 21544195 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,CNTN3,EBLN2,EPHA3,FAM86DP,FLJ20518,FRG2C,GBE1,GXYLT2,HTR1F,LOC401074,LOC440970,MIR1324,MIR4273,MIR4444-1,MIR4795,MIR5688,PDZRN3,POU1F1,PPP4R2,RNU6-69,ROBO1,ROBO2,SHQ1,VGLL3,ZNF654,ZNF717 chr3 72823546 72823652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHQ1 chr3 72823564 72823652 Gain and loss Pancreatic cancer SNP array 17952125 SHQ1 chr3 72823564 72823652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SHQ1 chr3 72881117 72980288 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 GXYLT2,SHQ1 chr3 72881120 72980289 Gain and loss Pancreatic cancer SNP array 17952125 GXYLT2,SHQ1 chr3 72881122 72980288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GXYLT2,SHQ1 chr3 72881122 72980288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GXYLT2,SHQ1 chr3 72881122 72980289 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GXYLT2,SHQ1 chr3 72884214 72884274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SHQ1 chr3 72930814 72975743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GXYLT2 chr3 72936713 75305429 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN3,EBLN2,GXYLT2,MIR4444-1,PDZRN3,PPP4R2 chr3 72965725 72999817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GXYLT2 chr3 73020075 73107077 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GXYLT2,PPP4R2 chr3 73020075 73107077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GXYLT2,PPP4R2 chr3 73020075 73107077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GXYLT2,PPP4R2 chr3 73031229 73031329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 73040200 73106994 Gain and loss Pancreatic cancer SNP array 17952125 PPP4R2 chr3 73041714 73739243 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 EBLN2,PDZRN3,PPP4R2 chr3 73044008 73088691 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPP4R2 chr3 7311701 7640600 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRM7 chr3 73128651 73198980 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 73128651 73199031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 73128651 73199031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 73128651 73214539 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 73145768 73146244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 73147091 73147386 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 73159650 73159714 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 73194663 74978180 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN3,PDZRN3 chr3 73213828 73213930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 73213828 73213930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 7322025 7322322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRM7 chr3 73224033 73224097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 73224033 73224097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 73242833 73243020 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 73242833 73243023 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 73242833 73243023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 73256893 73256970 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr3 73314344 73315132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 73314359 73315097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 73329254 73329354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 73373630 73373737 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 73373630 73373737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 73401073 73401173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 73419551 73464565 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDZRN3 chr3 73438888 73438953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN3 chr3 73458263 73458356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN3 chr3 73469404 73469452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN3 chr3 7346963 7347034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 73480000 76530000 Loss Breast cancer aCGH 21509527 CNTN3,FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,MIR4444-1,PDZRN3,ZNF717 chr3 73514342 73756762 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 PDZRN3 chr3 73514342 73756762 Gain and loss Pancreatic cancer SNP array 17952125 PDZRN3 chr3 73514342 73756764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDZRN3 chr3 73514342 73756764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDZRN3 chr3 73542810 73542901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN3 chr3 73569170 73569268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN3 chr3 73656696 73688889 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PDZRN3 chr3 73670297 73670397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDZRN3 chr3 7371790 7371876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 73726091 74978180 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CNTN3 chr3 7375637 7377118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRM7 chr3 73761760 73761860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 73789448 73826113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 73793064 73793164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 73805902 73805959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 73827901 73828001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 73875221 73875313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 73876402 73898589 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 74021723 74022068 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 74091538 74091768 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 74091538 74091768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 74124677 74132177 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 74127698 75483656 LOH Normal High-resolution SNP genotyping 21211785 CNTN3,FAM86DP,MIR4444-1 chr3 74134942 74135042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74162703 75468847 Copy number Normal Quantitative Real-Time PCR 17666543 CNTN3,MIR4444-1 chr3 74166483 74166583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74182831 74182884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74200000 81800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CNTN3,FAM86DP,FLJ20518,FRG2C,GBE1,LOC401074,MIR1324,MIR4273,MIR4444-1,ROBO1,ROBO2,ZNF717 chr3 74200000 81800000 Copy number Normal - 21701786 CNTN3,FAM86DP,FLJ20518,FRG2C,GBE1,LOC401074,MIR1324,MIR4273,MIR4444-1,ROBO1,ROBO2,ZNF717 chr3 74200000 81800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CNTN3,FAM86DP,FLJ20518,FRG2C,GBE1,LOC401074,MIR1324,MIR4273,MIR4444-1,ROBO1,ROBO2,ZNF717 chr3 74200000 81800000 Gain Schizophrenia Affymetrix 6.0 array 21399695 CNTN3,FAM86DP,FLJ20518,FRG2C,GBE1,LOC401074,MIR1324,MIR4273,MIR4444-1,ROBO1,ROBO2,ZNF717 chr3 74200000 83700000 Duplication Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 CNTN3,FAM86DP,FLJ20518,FRG2C,GBE1,LOC401074,MIR1324,MIR4273,MIR4444-1,ROBO1,ROBO2,ZNF717 chr3 74200000 87200000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 CADM2,CADM2-AS2,CNTN3,FAM86DP,FLJ20518,FRG2C,GBE1,LOC401074,LOC440970,MIR1324,MIR4273,MIR4444-1,MIR5688,RNU6-69,ROBO1,ROBO2,VGLL3,ZNF717 chr3 74200000 87200000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 CADM2,CADM2-AS2,CNTN3,FAM86DP,FLJ20518,FRG2C,GBE1,LOC401074,LOC440970,MIR1324,MIR4273,MIR4444-1,MIR5688,RNU6-69,ROBO1,ROBO2,VGLL3,ZNF717 chr3 74200000 91000000 Amplification Soft tissue tumor 32k BAC microarrays 16732325 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,CNTN3,EPHA3,FAM86DP,FLJ20518,FRG2C,GBE1,HTR1F,LOC401074,LOC440970,MIR1324,MIR4273,MIR4444-1,MIR4795,MIR5688,POU1F1,RNU6-69,ROBO1,ROBO2,VGLL3,ZNF654,ZNF717 chr3 74230276 74237487 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 74230849 74234561 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 74230849 74234561 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 74235072 74235296 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 74235072 74235296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 74255238 74255409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74255413 74255530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74267888 74268732 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 74267888 74268738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 74277771 74322823 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CNTN3 chr3 74297887 74297978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 74297893 74297980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 74322354 74322454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN3 chr3 74349279 74349379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN3 chr3 74352921 74353021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN3 chr3 74382590 74402458 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 CNTN3 chr3 74385971 74386071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN3 chr3 74394411 74653033 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CNTN3 chr3 74394412 74618331 Gain and loss Pancreatic cancer SNP array 17952125 CNTN3 chr3 74394412 74653033 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CNTN3 chr3 74394412 74653033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CNTN3 chr3 74394412 74653033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CNTN3 chr3 74410091 74410171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN3 chr3 74424599 74424699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN3 chr3 74549956 74550056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CNTN3 chr3 74550201 74553021 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CNTN3 chr3 74579663 74579763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74648043 74648694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 74668805 74668890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74688036 74688129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74728229 74728329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74823479 76087261 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,MIR4444-1,ZNF717 chr3 74823479 76087261 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-391K arrays 21546498 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,MIR4444-1,ZNF717 chr3 74848103 74848425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 74859806 74859906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74872562 74872636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 74897554 74927892 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 74940429 74940514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 74987572 74987656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 75038801 75038837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 75053099 75053360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 75101115 75101155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 75104904 75105004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 75212944 75213043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 75234598 75234667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 7529648 8090469 LOH Normal High-resolution SNP genotyping 21211785 GRM7 chr3 75314595 75314888 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75314595 75314888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75314597 75314889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75347282 75347473 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 7538620 7538720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 75409399 75410411 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75428849 75701937 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM86DP,MIR1324 chr3 75428992 76088380 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 chr3 75448992 75481371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM86DP chr3 75449810 75449890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 75458501 75460500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 75460501 75547500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM86DP chr3 75460947 75470814 Gain and loss Pancreatic cancer SNP array 17952125 FAM86DP chr3 75487037 75499351 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr3 75487797 75489883 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 75487797 75489883 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75487797 75489883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75498553 75731912 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75500255 75513204 Gain Normal Quantitative PCR 18989455 NOT_FOUND chr3 75502833 75503099 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75503848 75625524 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75503848 75691317 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 MIR1324 chr3 75503848 75722584 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75506341 75689088 Copy number loss Normal High-resolution SNP genotyping 21211785 MIR1324 chr3 75509785 75613772 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75615109 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75621607 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75625524 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75625524 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75627862 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75628500 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75629408 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75629408 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75631412 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75669483 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75669483 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75509785 75703573 Deletion Normal Affymetrix 6.0 microarrays 20967226 MIR1324 chr3 75509785 75722584 Deletion Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75509785 75722584 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75522471 75738749 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75523617 75546797 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 75523925 75740799 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75523925 75877257 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 chr3 75523925 75996192 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 chr3 75530988 75550489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 75532292 75669483 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 75532292 75695852 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MIR1324 chr3 75535509 75627862 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 NOT_FOUND chr3 75537428 75554840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 75539347 75552969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 75540506 75550622 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 75540548 75779859 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75541024 75554000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 75543330 75552139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 75547501 75568000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 75552183 75722584 Deletion Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75553394 75566956 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 75553395 75566951 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75553401 75566889 Copy number Ollier disease Affymetrix SNP 6.0 array 21235737 NOT_FOUND chr3 75553413 75566951 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 75553413 75566951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75568001 75711000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR1324 chr3 75583442 75764996 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75583442 75768650 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75592462 75752352 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75597086 75738749 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75605823 75615298 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 NOT_FOUND chr3 75609860 75740799 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75613585 75730577 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75613585 75738749 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75613585 75763888 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75613665 75768650 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75621533 75678936 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 75621533 75738749 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75621533 75740799 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75621533 75740799 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75621533 75752108 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75621533 75752108 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75621533 75757291 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75621533 75764996 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75625536 75963963 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 chr3 75626779 75691178 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MIR1324 chr3 75628512 75721431 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,MIR1324 chr3 75629408 75817831 Duplication Normal Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 chr3 75631424 75722197 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75631424 75740799 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75632408 75677871 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 75632408 75740799 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75632636 75752120 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75643204 75768650 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75643216 75740799 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75643216 75768662 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75643235 75691178 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 MIR1324 chr3 75643820 75669025 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 75647561 75722584 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75655239 75669495 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 75655239 75669495 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 75655239 75722584 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 FLJ20518,FRG2C,LOC401074,MIR1324 chr3 75669495 75678936 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 75677859 75874734 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 chr3 75681638 75681786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75695864 75703585 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 75698633 75885406 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 chr3 75698633 75997482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 chr3 75698633 76056264 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 chr3 75698633 76160982 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 chr3 75698634 76056264 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 chr3 75711001 75712500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 75712501 75749000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FLJ20518,FRG2C,LOC401074 chr3 75712562 75997482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 chr3 75712562 76056264 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 chr3 75722143 75722497 Gain and loss Pancreatic cancer SNP array 17952125 LOC401074 chr3 75730726 75731226 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75730726 75731229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75741512 85421052 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 CADM2,GBE1,LOC440970,MIR4273,ROBO1,ROBO2,ZNF717 chr3 7574697 7574786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRM7 chr3 75748201 75925300 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4273,ZNF717 chr3 75749001 75756000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 75751324 75755690 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75751386 75755591 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 75751386 75755659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75752368 75794102 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MIR4273,ZNF717 chr3 75756535 75756997 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75759574 75759674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 75761737 75839337 Gain Non-syndromic sensorineural hearing loss BAC end sequencing 19587683 MIR4273,ZNF717 chr3 75762604 75762699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75766216 75882731 Copy number Lung cancer paired-end sequencing 18438408 MIR4273,ZNF717 chr3 75766501 75886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MIR4273,ZNF717 chr3 7577247 50846910 Duplication Intellectual disability Array CGH 22102821 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,ARIH2,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,ATRIP,AZI2,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf45,C3orf62,C3orf71,C3orf77,CACNA2D2,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DHX30,DLEC1,DOCK3,DPH3,DYNC1LI1,EAF1,EFHB,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GMPPB,GNAI2,GNAT1,GOLGA4,GORASP1,GPD1L,GPX1,GRIP2,GRM7,GTDC2,HACL1,HDAC11,HEMK1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RC,IL17RE,IMPDH2,IP6K1,IP6K2,IQSEC1,IRAK2,ITGA9,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132146,LOC100132526,LOC100288428,LOC100505696,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LSM3,LTF,LUST,LYZL4,LZTFL1,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR138-1,MIR191,MIR26A1,MIR3714,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NGLY1,NICN1,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PDCD6IP,PFKFB4,PLCD1,PLCL2,PLXNB1,PP2D1,PPARG,PRKAR2A,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAB5A,RAD18,RAF1,RARB,RASSF1,RBM5,RBM6,RBMS3,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL32,RPSA,RPUSD3,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SEMA3B,SEMA3F,SETD2,SETD5,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SMARCC1,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SPINK8,SRGAP3,SS18L2,STAC,STT3B,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TMA7,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WDR6,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 75774118 75774218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 75793802 75793902 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 ZNF717 chr3 75796171 75799051 Gain and loss Pancreatic cancer SNP array 17952125 ZNF717 chr3 75796171 75799054 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ZNF717 chr3 75796171 75799054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF717 chr3 75796171 75799054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF717 chr3 75798656 90576572 Allelic imbalance Normal High-resolution SNP genotyping 21211785 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,GBE1,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,ROBO1,ROBO2,VGLL3,ZNF654,ZNF717 chr3 75798656 90576572 Copy number gain Normal High-resolution SNP genotyping 21211785 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,GBE1,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,ROBO1,ROBO2,VGLL3,ZNF654,ZNF717 chr3 75800772 75801281 Gain and loss Pancreatic cancer SNP array 17952125 ZNF717 chr3 75832381 75997482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ZNF717 chr3 75846411 75873531 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr3 75853081 75875933 Loss Normal 244K array 17666407 NOT_FOUND chr3 75854994 75871898 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr3 75863898 75917360 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 75863898 75917360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75863898 75917360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 75864057 75864431 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75868718 75916945 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 75868718 75916945 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr3 75869370 75870287 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 75879447 89583855 Substitutions and indels small cell lung cancer array-CGH 20016488 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,GBE1,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,ROBO1,ROBO2,VGLL3,ZNF654 chr3 75892794 89577706 Copy number Lung cancer paired-end sequencing 18438408 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,GBE1,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,ROBO1,ROBO2,VGLL3,ZNF654 chr3 75906671 92780556 Copy number Lung cancer paired-end sequencing 18438408 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,GBE1,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,ROBO1,ROBO2,VGLL3,ZNF654 chr3 75914398 75914761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 76069335 77779351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ROBO2 chr3 76069335 77779351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROBO2 chr3 76075482 76076237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 76090125 76090225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76093047 77332407 LOH Normal High-resolution SNP genotyping 21211785 ROBO2 chr3 76096814 76096910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 76096821 76096910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 76096830 76096910 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 7611612 7733107 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 GRM7 chr3 76158979 76250987 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 76222096 76222312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76222295 76222499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76228252 76237859 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 76229787 76504425 Loss Urothelial carcinoma array CGH validated by FISH 21177765 NOT_FOUND chr3 76248984 76935064 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 76272166 76272266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76282314 76282314 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 76294054 76294154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76303486 76303572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76307062 76307162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76335135 76335230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76364860 76384444 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 7640601 8298400 Copy number Normal ReadDepth: A Parallel R Package 21305028 GRM7,LOC100288428 chr3 76435529 76435619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76524609 76524709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76549737 76549821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 76565950 76567149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 76571068 76571189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 76571082 76571202 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 76583347 77451048 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ROBO2 chr3 76679555 76782870 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 76693754 76693854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 7670011 7670099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRM7 chr3 76729567 76763354 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 76754077 76754152 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 76818253 76818370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 76845956 76866610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 76858287 76995328 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 7686554 7686754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRM7 chr3 76898001 77026574 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 76916524 76916624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76946602 77270731 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 ROBO2 chr3 76985654 76985870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 76985869 76986080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 77039708 77039806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 77053056 77053156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 77094140 77094218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO2 chr3 77130899 77130949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO2 chr3 77152516 77152576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO2 chr3 77172621 77779351 Gain and loss Pancreatic cancer SNP array 17952125 ROBO2 chr3 77172627 77779351 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ROBO2 chr3 77180364 77180464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO2 chr3 77223898 77223994 Gain and loss Pancreatic cancer SNP array 17952125 ROBO2 chr3 77223898 77224004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROBO2 chr3 77223898 77224017 Gain and loss Pancreatic cancer SNP array 17952125 ROBO2 chr3 77303331 77303470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO2 chr3 77306382 77306471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO2 chr3 77322791 77348500 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROBO2 chr3 77382124 77852379 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ROBO2 chr3 77421116 77428184 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ROBO2 chr3 77448593 77449484 Gain and loss Pancreatic cancer SNP array 17952125 ROBO2 chr3 77448593 77449493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROBO2 chr3 77466215 78924208 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ROBO1,ROBO2 chr3 77481544 77639025 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ROBO2 chr3 77502337 77502424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO2 chr3 77573112 77573206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO2 chr3 77634005 77699265 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROBO2 chr3 77634414 77667854 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ROBO2 chr3 77723400 77730025 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 77728183 77728228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 77747702 77747802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 77863335 77863435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 7786984 8299589 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100288428 chr3 77885922 77886022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 77895503 77901519 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 77910146 77924562 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 77916193 77916287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 77943582 77943685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 77943582 77943685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 78003144 78003199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 78036567 78048232 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 7806316 7806416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 78127379 79073206 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ROBO1 chr3 78164352 78164481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 7821935 7821997 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 78246999 78247296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 78246999 78247298 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 78246999 78247298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 78293539 78293832 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 78293539 78293832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 78293539 78293833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 78405622 79800000 Amplification Colorectal cancer PCR 16912164 ROBO1 chr3 78425363 78425859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 78454001 78454742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 78501729 79073206 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ROBO1 chr3 78511320 78511420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 78549654 78549746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 78557057 78573339 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr3 78595875 79392705 LOH Normal High-resolution SNP genotyping 21211785 ROBO1 chr3 78670681 78672102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ROBO1 chr3 78672422 78674245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ROBO1 chr3 78701312 78701409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO1 chr3 78729080 79721751 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ROBO1 chr3 78729080 79721751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ROBO1 chr3 78729080 79721751 Gain and loss Pancreatic cancer SNP array 17952125 ROBO1 chr3 78729080 79721751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROBO1 chr3 78739039 81209797 LOH Normal High-resolution SNP genotyping 21211785 ROBO1 chr3 78746627 78746727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO1 chr3 78759134 80171916 LOH Normal High-resolution SNP genotyping 21211785 ROBO1 chr3 78778432 78778522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO1 chr3 7880947 7881150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 78862115 78862414 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 ROBO1 chr3 79008926 79009026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO1 chr3 79019795 79019854 Loss Urothelial carcinoma array CGH validated by FISH 21177765 ROBO1 chr3 79069879 79070119 Gain and loss Pancreatic cancer SNP array 17952125 ROBO1 chr3 79069879 79070119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROBO1 chr3 79140008 79207323 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROBO1 chr3 79161342 79161442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO1 chr3 7917550 7948498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 79192982 79193082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO1 chr3 79452584 79452664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO1 chr3 79519603 80254091 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ROBO1 chr3 79519603 80254091 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ROBO1 chr3 795952 796052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 7964412 7964462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 79716432 79716524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ROBO1 chr3 79735375 82238470 LOH Normal High-resolution SNP genotyping 21211785 GBE1,ROBO1 chr3 79761372 79761472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ROBO1 chr3 79800000 83500000 Duplication Mental retardation array CGH 17124404 GBE1,ROBO1 chr3 79800000 83500000 Loss Esophageal squamous carcinoma Array CGH 17470683 GBE1,ROBO1 chr3 79805533 79820928 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ROBO1 chr3 7998427 7998516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80012408 80057397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 80085397 80085487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80119540 80119640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80168167 80168249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80182501 80184500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 80215335 80797517 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 80215335 80797517 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 80236884 80236984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80267054 80267154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8030134 8030214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80395073 83498191 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 GBE1 chr3 80405639 81500273 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 8042028 8394921 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-382K arrays 21546498 LOC100288428 chr3 80456195 80456227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80486996 80833197 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-436K arrays 21546498 NOT_FOUND chr3 80603210 80644844 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr3 80603210 80644844 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 80605830 80605928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80645884 80869953 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr3 80667948 80679526 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 8067752 8067834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80740076 80740199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 80759819 80759918 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 80759819 80759918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 80831000 90342000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,GBE1,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,VGLL3,ZNF654 chr3 80911301 80911401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80924563 80924736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 80924563 80924736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 80964656 80964865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80964882 80965063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 80967973 81000970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 80986222 82182143 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-422K arrays 21546498 GBE1 chr3 80993670 80994307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 81006001 81011400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 81008002 81009294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 81195607 81195707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81220075 81220174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81257918 81291917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 8126457 8193657 Copy number Schizophrenia - 18511947 NOT_FOUND chr3 81300089 81300189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81316686 81316786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81317971 81318046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81397802 81397902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81428756 81429066 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 8145442 8145542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81493407 81493496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81530344 81530443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81537644 81537744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 81592917 81593011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBE1 chr3 81621539 81893640 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 GBE1 chr3 81621542 81894002 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GBE1 chr3 81621542 81894002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GBE1 chr3 81621542 81894002 Gain and loss Pancreatic cancer SNP array 17952125 GBE1 chr3 81621542 81894002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBE1 chr3 81641317 81641505 Gain and loss Pancreatic cancer SNP array 17952125 GBE1 chr3 81641317 81641505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GBE1 chr3 81641318 81641415 Gain and loss Pancreatic cancer SNP array 17952125 GBE1 chr3 81674283 83271792 Loss Urothelial carcinoma array CGH validated by FISH 21177765 GBE1 chr3 81722384 81722484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBE1 chr3 81738882 81738951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBE1 chr3 81741959 82527487 LOH Normal High-resolution SNP genotyping 21211785 GBE1 chr3 81782111 82309287 LOH Normal High-resolution SNP genotyping 21211785 GBE1 chr3 81799373 81799473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBE1 chr3 81800000 118800000 Inversion Neurodevelopmental disorder oligonucleotide aCGH 22521361 ABHD10,ABI3BP,ALCAM,ARL13B,ARL6,ATG3,ATP6V1A,BBX,BOC,BTLA,C3orf17,C3orf38,C3orf52,CADM2,CADM2-AS2,CBLB,CCDC54,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD96,CEP97,CGGBP1,CHMP2B,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,DHFRL1,DPPA2,DPPA4,DRD3,DZIP3,EPHA3,EPHA6,FAM172BP,FILIP1L,FLJ22763,FLJ25363,GABRR3,GAP43,GBE1,GCSAM,GPR128,GPR15,GRAMD1C,GTPBP8,GUCA1C,HHLA2,HTR1F,IFT57,IGSF11,IGSF11-AS1,IMPG2,KIAA1407,KIAA1524,KIAA2018,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100302640,LOC152225,LOC255025,LOC285359,LOC344595,LOC440970,LSAMP,LSAMP-AS3,MINA,MIR3921,MIR4446,MIR4795,MIR4796,MIR548A3,MIR548G,MIR567,MIR568,MIR5688,MORC1,MYH15,NAA50,NFKBIZ,NIT2,NSUN3,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PCNP,PHLDB2,PLCXD2,POU1F1,PROS1,PVRL3,PVRL3-AS1,QTRTD1,RETNLB,RNU6-69,RPL24,SENP7,SIDT1,SLC35A5,SLC9C1,SPICE1,ST3GAL6,ST3GAL6-AS1,STX19,TAGLN3,TBC1D23,TFG,TIGIT,TMEM30C,TMEM45A,TMPRSS7,TOMM70A,TRAT1,TRMT10C,VGLL3,WDR52,WDR52-AS1,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF654,ZNF80,ZPLD1 chr3 81800000 83700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GBE1 chr3 81800000 83700000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 GBE1 chr3 81802914 81803014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBE1 chr3 81914724 81914819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8192101 8200900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 81988701 81992200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 81990183 81990502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 81992028 82006436 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 82032992 85222091 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CADM2,LOC440970 chr3 82073048 82084472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 82073287 82085620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 82078009 82078087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82082762 82082834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82127381 82127481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82144851 82144971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82173141 82173241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82194042 82195879 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 82218937 82219037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82229054 82229154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82239016 82239116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82329579 82329669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82385386 82385661 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 82410325 83190195 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 82455801 82455908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 82655791 84801874 Loss Medulloblastoma array-CGH 16783165 LOC440970 chr3 826977 827984 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 82718567 83990538 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 82773971 82774161 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 82778281 82778376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 828054 829464 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 82818367 82852822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 82897998 82898096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 82944366 82967073 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 82949901 82957500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 82951526 82955566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 8298401 9386300 Copy number Normal ReadDepth: A Parallel R Package 21305028 C3orf32,CAV3,LINC00312,LMCD1,LOC100288428,OXTR,RAD18,SRGAP3 chr3 82995000 92595000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,VGLL3,ZNF654 chr3 8300000 89400000 Loss Glioblastoma multiforme aCGH 21080181 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EFHB,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 8300000 89400000 Loss Glioblastoma multiforme conventional CGH 21080181 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ADAMTS9,ADAMTS9-AS2,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARL6IP5,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,ATXN7,AZI2,BAP1,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf14,C3orf18,C3orf20,C3orf24,C3orf32,C3orf35,C3orf38,C3orf45,C3orf49,C3orf62,C3orf67,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CADM2,CADM2-AS2,CADPS,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CGGBP1,CHCHD4,CHDH,CHMP2B,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,CNTN3,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EBLN2,EFHB,EIF1B,EIF4E3,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOGT,EOMES,EPHA3,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM19A1,FAM19A4,FAM208A,FAM212A,FAM3D,FAM86DP,FANCD2,FBLN2,FBXL2,FBXW12,FEZF2,FGD5,FGD5-AS1,FHIT,FLJ20518,FLJ33065,FLJ39534,FLNB,FOXP1,FRG2C,FRMD4B,FYCO1,GADL1,GALNTL2,GBE1,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR27,GPR62,GPX1,GRIP2,GRM2,GTDC2,GXYLT2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HTR1F,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,JAGN1,KAT2B,KBTBD5,KBTBD8,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00312,LINC00606,LINC00620,LMCD1,LMOD3,LOC100129480,LOC100132146,LOC100132526,LOC100287879,LOC100288428,LOC100505696,LOC100506994,LOC152024,LOC201617,LOC285326,LOC285401,LOC339862,LOC401052,LOC401074,LOC440944,LOC440970,LOC644990,LOC645206,LOC646498,LRIG1,LRRC2,LRRC3B,LRRFIP2,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MAGI1,MAGI1-AS1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR1284,MIR1324,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3136,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4272,MIR4273,MIR4442,MIR4443,MIR4444-1,MIR4787,MIR4791,MIR4792,MIR4793,MIR4795,MIR5193,MIR548A2,MIR548AC,MIR563,MIR564,MIR5688,MIR711,MIR885,MIRLET7G,MITF,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PDZRN3,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,POU1F1,PP2D1,PPARG,PPM1M,PPP4R2,PRICKLE2,PRICKLE2-AS1,PRICKLE2-AS2,PRICKLE2-AS3,PRKAR2A,PRKCD,PROK2,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PSMD6,PSMD6-AS2,PTH1R,PTPN23,PTPRG,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RNU6-69,ROBO1,ROBO2,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,RYBP,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SHQ1,SLC22A13,SLC22A14,SLC25A20,SLC25A26,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SNTN,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUCLG2,SUSD5,SYN2,SYNPR,SYNPR-AS1,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THOC7,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMF1,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA3,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL3,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF654,ZNF660,ZNF662,ZNF717,ZNF860 chr3 8300600 8301855 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100288428 chr3 8300600 8301855 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 LOC100288428 chr3 8300612 8301814 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100288428 chr3 8300639 8301811 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100288428 chr3 83019347 83019647 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 83037309 83037409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8322201 8322287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100288428 chr3 83222784 83267738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 8324444 8324515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100288428 chr3 832458 1403398 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 CNTN6 chr3 83289042 83289142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 83349501 83351000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 83385204 83385297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 83439090 83439180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8344647 8455539 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 LOC100288428 chr3 83483615 83483715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 83500000 87200000 Deletion Mental retardation array CGH 17124404 CADM2,CADM2-AS2,LOC440970,MIR5688,RNU6-69,VGLL3 chr3 83500000 87200000 Loss Esophageal squamous carcinoma Array CGH 17470683 CADM2,CADM2-AS2,LOC440970,MIR5688,RNU6-69,VGLL3 chr3 83535501 83536500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 83546373 83581420 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 83546373 83587002 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 8356115 8625632 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LINC00312,LMCD1,LOC100288428 chr3 83580923 83581008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 83584205 83584290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 83617574 83617674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 83700000 87200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CADM2,CADM2-AS2,LOC440970,MIR5688,RNU6-69,VGLL3 chr3 83700000 89400000 Gain Malignant fibrous histiocytomas aCGH 21085701 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,VGLL3,ZNF654 chr3 83700000 91700000 Deletion craniofacial dysmorphism array comparative genomic hybridization 21918468 C3orf38,CADM2,CADM2-AS2,CGGBP1,CHMP2B,EPHA3,HTR1F,LOC440970,MIR4795,MIR5688,POU1F1,RNU6-69,VGLL3,ZNF654 chr3 83700780 83700845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 837481 1192829 Gain Autism Inheritance 20685689 CNTN6 chr3 8379733 9489016 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C3orf32,CAV3,LINC00312,LMCD1,LOC100288428,LOC440944,OXTR,RAD18,SETD5,SRGAP3,THUMPD3 chr3 8381230 8381335 Gain and loss Pancreatic cancer SNP array 17952125 LOC100288428 chr3 8381230 8381335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100288428 chr3 83820150 83820450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 83820214 83820450 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 83820214 83820450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 83820340 83820440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8383652 8384238 Loss Normal 244K array 17666407 LOC100288428 chr3 83863086 83863145 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 83925899 83942799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 83933701 83940100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 83935806 83938039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 83939038 83961744 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr3 84028330 84843609 LOH Normal High-resolution SNP genotyping 21211785 LOC440970 chr3 84093621 84093705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 84117708 85742423 LOH Normal High-resolution SNP genotyping 21211785 CADM2,LOC440970,MIR5688 chr3 8412164 8413261 Loss Normal 244K array 17666407 LOC100288428 chr3 84145101 84145196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 84157758 84157858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 84185601 84191800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr3 84187633 84190074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 84218832 84218932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 84257001 84258500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 8426801 8430800 Deletion Glioma mate-paired sequence 20126413 LOC100288428 chr3 84284849 85486316 LOH Normal High-resolution SNP genotyping 21211785 CADM2,LOC440970,MIR5688 chr3 84295185 84295280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 84308609 84308709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8439309 8473037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC100288428 chr3 84420468 84424901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 84421953 84422094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 84433201 84433399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 84454483 84454546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 84486862 84486933 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 84487786 84489778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 84499858 84531257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 8452382 8469798 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100288428 chr3 84657181 87197152 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CADM2,CADM2-AS2,LOC440970,MIR5688,RNU6-69,VGLL3 chr3 84781373 84794415 Copy number Normal Birdsuite, version 1.5.2 22087296 LOC440970 chr3 84781680 84782374 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440970 chr3 84782139 84785498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC440970 chr3 84782374 84782448 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440970 chr3 84782448 84782483 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440970 chr3 84782483 84784826 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440970 chr3 84784826 84784851 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440970 chr3 84784851 84784925 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440970 chr3 84784925 84794415 Loss Normal Birdsuite, version 1.5.2 22087296 LOC440970 chr3 84868129 85439477 Duplication Autism Array CGH 22102821 CADM2,LOC440970,MIR5688 chr3 84868731 84868815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC440970 chr3 84882961 84883011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC440970 chr3 84888501 84889500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC440970 chr3 84901560 86003512 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CADM2,CADM2-AS2,LOC440970,MIR5688 chr3 84949708 84949808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 84956636 84956731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 84962371 84962471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8498897 12908226 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,C3orf32,CAMK1,CAND2,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00312,LINC00606,LMCD1,LOC100129480,LOC100288428,LOC401052,LOC440944,MIR885,MKRN2,MTMR14,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TSEN2,TTLL3,VGLL4,VHL chr3 85011578 85011678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85012829 85038200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CADM2 chr3 85025498 85035587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CADM2 chr3 8502674 8502824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100288428 chr3 85028769 85037847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CADM2 chr3 85030626 85034371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CADM2 chr3 85050090 85050190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85086278 85086378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85090822 86200640 Copy number Prostate cancer FISH 21307934 CADM2,CADM2-AS2,MIR5688 chr3 85091449 86198623 Gain and loss Pancreatic cancer SNP array 17952125 CADM2,CADM2-AS2,MIR5688 chr3 85091449 86200638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CADM2,CADM2-AS2,MIR5688 chr3 85091449 86200638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CADM2,CADM2-AS2,MIR5688 chr3 85093485 85093579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85155251 85155401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 8518507 8584805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LMCD1,LOC100288428 chr3 8518507 8584805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LMCD1,LOC100288428 chr3 8518511 8584805 Gain and loss Pancreatic cancer SNP array 17952125 LMCD1,LOC100288428 chr3 85188908 85189008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 8520000 15020000 Loss Breast cancer aCGH 21509527 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf20,C3orf24,C3orf32,CAMK1,CAND2,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GHRL,GHRLOS,GHRLOS2,GRIP2,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,LHFPL4,LINC00312,LINC00606,LINC00620,LMCD1,LOC100129480,LOC100132526,LOC100288428,LOC401052,LOC440944,LSM3,MIR885,MKRN2,MTMR14,NR2C2,NUP210,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC chr3 8522337 8522431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100288428 chr3 85283129 86554315 LOH Normal High-resolution SNP genotyping 21211785 CADM2,CADM2-AS2,MIR5688,RNU6-69 chr3 8531053 8531140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100288428 chr3 85322618 85322718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 854451 4119727 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,LRRN1,TRNT1 chr3 854451 4119727 Copy number gain Normal High-resolution SNP genotyping 21211785 CNTN4,CNTN4-AS2,CNTN6,CRBN,IL5RA,LRRN1,TRNT1 chr3 85508203 85571430 Gain Normal Birdsuite, version 1.5.2 22087296 CADM2 chr3 85519002 85519096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85562081 85562181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85576336 85576568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85576624 85576724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85603747 85659887 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CADM2 chr3 85611286 85611386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85639963 85640063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 85675324 85675424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 857329 1235135 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN6 chr3 8576169 8595210 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LMCD1 chr3 85858322 86200638 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CADM2,CADM2-AS2 chr3 85866513 85866655 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CADM2,CADM2-AS2 chr3 85938894 85938964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 86003960 86638740 LOH Normal High-resolution SNP genotyping 21211785 CADM2,RNU6-69 chr3 860069 1254855 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN6 chr3 860076 1242332 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN6 chr3 86048793 86048893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CADM2 chr3 86166479 86166579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 86241933 86242033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 86250885 95164178 Amplification Cancer Affymetrix 250K Sty array 20164920 ARL13B,C3orf38,CGGBP1,CHMP2B,DHFRL1,EPHA3,HTR1F,LOC255025,MIR4795,NSUN3,POU1F1,PROS1,RNU6-69,STX19,VGLL3,ZNF654 chr3 86257056 86257127 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 86257056 86257127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 8628211 8634221 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr3 86296094 86296410 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 8636281 8698757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C3orf32 chr3 8636281 8698757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C3orf32 chr3 8636317 8668737 Gain and loss Pancreatic cancer SNP array 17952125 C3orf32 chr3 86367162 86367264 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 86367162 86367264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 86385502 86439685 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 86418781 86418836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 864526 864628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 86493972 86494239 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 86493972 86494239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 86493972 86494310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 86509910 86509979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 865530 1262822 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN6 chr3 86562207 86686939 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr3 865714 866611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 86606544 86606644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 867140 867646 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 86814275 88554611 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,CHMP2B,HTR1F,MIR4795,POU1F1,VGLL3,ZNF654 chr3 86822954 88108982 LOH Normal High-resolution SNP genotyping 21211785 CGGBP1,CHMP2B,HTR1F,MIR4795,POU1F1,VGLL3 chr3 86841685 87708778 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CHMP2B,MIR4795,POU1F1,VGLL3 chr3 86878741 86878841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 86891064 86903822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 8689172 8689255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C3orf32 chr3 86896192 86896292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 86899386 86899447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 869372 1239924 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CNTN6 chr3 86941153 86941253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 86948401 86948501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 86977342 86977417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8700000 11500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 8700000 11500000 Copy number Normal - 21701786 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 8700000 11500000 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 8700000 11500000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 8700000 11500000 Loss Renal cell carcinoma References 19461508 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 8700000 11500000 Loss Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 8700000 11800000 Copy number Colorectal cancer - 19287155 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VGLL4,VHL chr3 8700000 11800000 Copy number Squamous cell cancer Real-time PCR 19047905 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VGLL4,VHL chr3 8700000 11800000 Copy number Von hippel-lindau syndrome References 19566914 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VGLL4,VHL chr3 8700000 11800000 Deletion Lung cancer CGH 16618734 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,LOC440944,MIR885,MTMR14,OGG1,OXTR,PRRT3,PRRT3-AS1,RAD18,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VGLL4,VHL chr3 8700000 13300000 Loss Mental retardation Array CGH 17847001 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAND2,CAV3,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,LHFPL4,LINC00606,LOC100129480,LOC401052,LOC440944,MIR885,MKRN2,MTMR14,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TSEN2,TTLL3,VGLL4,VHL chr3 8700000 14700000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAND2,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,FBLN2,GHRL,GHRLOS,GHRLOS2,GRIP2,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,LHFPL4,LINC00606,LINC00620,LOC100129480,LOC100132526,LOC401052,LOC440944,LSM3,MIR885,MKRN2,MTMR14,NUP210,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC chr3 8700000 14700000 Loss Esophageal cancer Affymetrix U133A 2.0 chip 20955586 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAND2,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,FBLN2,GHRL,GHRLOS,GHRLOS2,GRIP2,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,LHFPL4,LINC00606,LINC00620,LOC100129480,LOC100132526,LOC401052,LOC440944,LSM3,MIR885,MKRN2,MTMR14,NUP210,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC chr3 8700000 14700000 Loss Lung cancer High-resolution array comparative genomic hybridization 21556796 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAND2,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,FBLN2,GHRL,GHRLOS,GHRLOS2,GRIP2,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,LHFPL4,LINC00606,LINC00620,LOC100129480,LOC100132526,LOC401052,LOC440944,LSM3,MIR885,MKRN2,MTMR14,NUP210,OGG1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC chr3 8700000 16400000 Loss Endocrine pancreatic tumor Array CGH 17914106 ANKRD28,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,BTD,C3orf20,C3orf24,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,COL6A4P1,COLQ,CPNE9,CRELD1,DPH3,EAF1,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,LHFPL4,LINC00606,LINC00620,LOC100129480,LOC100132526,LOC100505696,LOC401052,LOC440944,LSM3,METTL6,MIR4270,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NR2C2,NUP210,OGG1,OXNAD1,OXTR,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RFTN1,RPL32,RPUSD3,SEC13,SETD5,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,TTLL3,VGLL4,VHL,WNT7A,XPC,ZFYVE20 chr3 8700000 23900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ANKRD28,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,BTD,C3orf20,C3orf24,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,COL6A4P1,COLQ,CPNE9,CRELD1,DAZL,DPH3,EAF1,EFHB,EMC3,FANCD2,FBLN2,FGD5,FGD5-AS1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00606,LINC00620,LOC100129480,LOC100132526,LOC100505696,LOC339862,LOC401052,LOC440944,LSM3,METTL6,MIR3714,MIR4270,MIR4791,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NR2C2,NUP210,OGG1,OXNAD1,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RFTN1,RPL32,RPUSD3,SATB1,SEC13,SETD5,SGOL1,SGOL1-AS1,SH3BP5,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,THUMPD3,TIMP4,TMEM40,TMEM43,TPRXL,TSEN2,TTLL3,UBE2E1,UBE2E2,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZFYVE20,ZNF385D chr3 8700000 30800000 Gain Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 ANKRD28,ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,AZI2,BRK1,BRPF1,BTD,C3orf20,C3orf24,CAMK1,CAND2,CAPN7,CAV3,CCDC174,CHCHD4,CIDEC,CIDECP,CMC1,COL6A4P1,COLQ,CPNE9,CRELD1,DAZL,DPH3,EAF1,EFHB,EMC3,EOMES,FANCD2,FBLN2,FGD5,FGD5-AS1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GRIP2,HACL1,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,KAT2B,KCNH8,LHFPL4,LINC00606,LINC00620,LOC100129480,LOC100132526,LOC100505696,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LRRC3B,LSM3,METTL6,MIR3714,MIR4270,MIR4442,MIR4791,MIR4792,MIR548AC,MIR563,MIR885,MKRN2,MRPS25,MTMR14,NEK10,NGLY1,NKIRAS1,NR1D2,NR2C2,NUP210,OGG1,OXNAD1,OXSM,OXTR,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,RAB5A,RAD18,RAF1,RARB,RBMS3,RFTN1,RPL15,RPL32,RPUSD3,SATB1,SEC13,SETD5,SGOL1,SGOL1-AS1,SH3BP5,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A6,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TGFBR2,THRB,THUMPD3,TIMP4,TMEM40,TMEM43,TOP2B,TPRXL,TSEN2,TTLL3,UBE2E1,UBE2E2,VENTXP7,VGLL4,VHL,WNT7A,XPC,ZCWPW2,ZFYVE20,ZNF385D chr3 8700000 54400000 Copy number Endometrioid adenocarcinoma CGH 16974079 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ACAA1,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,ARIH2,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,ATRIP,AZI2,BAP1,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf35,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EFHB,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GTDC2,HACL1,HDAC11,HEMK1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00606,LINC00620,LOC100129480,LOC100132146,LOC100132526,LOC100505696,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LSM3,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3714,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 8700000 58600000 Loss Myofibroblastic sarcoma CGH 19369631 ABHD14A,ABHD14A-ACY1,ABHD14B,ABHD5,ABHD6,ACAA1,ACOX2,ACTR8,ACVR2B,ACVR2B-AS1,ACY1,ALAS1,ALS2CL,AMIGO3,AMT,ANKRD28,ANO10,APEH,APPL1,ARF4,ARHGEF3,ARHGEF3-AS1,ARIH2,ARPC4,ARPC4-TTLL3,ARPP21,ASB14,ATG7,ATP2B2,ATRIP,AZI2,BAP1,BRK1,BRPF1,BSN,BSN-AS2,BTD,C3orf18,C3orf20,C3orf24,C3orf35,C3orf45,C3orf62,C3orf71,C3orf74,C3orf77,C3orf78,CACNA1D,CACNA2D2,CACNA2D3,CACNA2D3-AS1,CAMK1,CAMKV,CAMP,CAND2,CAPN7,CAV3,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCDC36,CCDC51,CCDC66,CCDC71,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CDHR4,CELSR3,CHCHD4,CHDH,CIDEC,CIDECP,CISH,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL6A4P1,COL7A1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYB561D2,CYP8B1,DAG1,DALRD3,DAZL,DCLK3,DCP1A,DHX30,DLEC1,DNAH1,DNAH12,DNASE1L3,DOCK3,DPH3,DUSP7,DYNC1LI1,EAF1,EFHB,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,ERC2,ERC2-IT1,ESRG,EXOG,EXOSC7,FAM107A,FAM116A,FAM198A,FAM208A,FAM212A,FANCD2,FBLN2,FBXL2,FBXW12,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FLNB,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GLT8D1,GLYCTK,GMPPB,GNAI2,GNAT1,GNL3,GOLGA4,GORASP1,GPD1L,GPR62,GPX1,GRIP2,GRM2,GTDC2,HACL1,HDAC11,HEMK1,HESX1,HHATL,HIGD1A,HRH1,HYAL1,HYAL2,HYAL3,IFRD2,IL17RB,IL17RC,IL17RD,IL17RE,IMPDH2,IP6K1,IP6K2,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,IQSEC1,IRAK2,ITGA9,ITIH1,ITIH3,ITIH4,JAGN1,KAT2B,KBTBD5,KCNH8,KCTD6,KIAA1143,KIF15,KIF9,KLHDC8B,KLHL18,KRBOX1,LAMB2,LAMB2P1,LARS2,LARS2-AS1,LHFPL4,LIMD1,LIMD1-AS1,LINC00606,LINC00620,LOC100129480,LOC100132146,LOC100132526,LOC100505696,LOC152024,LOC285326,LOC339862,LOC401052,LOC440944,LOC644990,LOC645206,LOC646498,LRRC2,LRRC3B,LRRFIP2,LRTM1,LSM3,LTF,LUST,LYZL4,LZTFL1,MANF,MAP4,MAPKAPK3,METTL6,MIR1226,MIR128-2,MIR135A1,MIR138-1,MIR191,MIR26A1,MIR3714,MIR3938,MIR425,MIR4270,MIR4271,MIR4442,MIR4443,MIR4787,MIR4791,MIR4792,MIR4793,MIR5193,MIR548AC,MIR563,MIR564,MIR711,MIR885,MIRLET7G,MKRN2,MLH1,MOBP,MON1A,MRPS25,MST1,MST1R,MTMR14,MUSTN1,MYD88,MYL3,MYRIP,NAT6,NBEAL2,NCKIPSD,NDUFAF3,NEK10,NEK4,NGLY1,NICN1,NISCH,NKIRAS1,NKTR,NME6,NPRL2,NR1D2,NR2C2,NRADDP,NT5DC2,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,OXTR,P4HTM,PARP3,PBRM1,PCBP4,PDCD6IP,PDE12,PDHB,PFKFB4,PHF7,PLCD1,PLCL2,PLXNB1,POC1A,PP2D1,PPARG,PPM1M,PRKAR2A,PRKCD,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,PXK,QARS,QRICH1,RAB5A,RAD18,RAD54L2,RAF1,RARB,RASSF1,RBM15B,RBM5,RBM6,RBMS3,RFT1,RFTN1,RHOA,RNF123,RPL14,RPL15,RPL29,RPL32,RPP14,RPSA,RPUSD3,RRP9,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SELK,SEMA3B,SEMA3F,SEMA3G,SETD2,SETD5,SFMBT1,SGOL1,SGOL1-AS1,SH3BP5,SHISA5,SLC22A13,SLC22A14,SLC25A20,SLC25A38,SLC26A6,SLC38A3,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SLMAP,SMARCC1,SNORA6,SNORA62,SNORA7A,SNORD19,SNORD19B,SNORD69,SNRK,SNRK-AS1,SPATA12,SPCS1,SPINK8,SRGAP3,SS18L2,STAB1,STAC,STT3B,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TCTA,TDGF1,TEX264,TGFBR2,TGM4,THRB,THUMPD3,TIMP4,TKT,TLR9,TMA7,TMEM110,TMEM110-MUSTN1,TMEM115,TMEM158,TMEM40,TMEM42,TMEM43,TMEM89,TMIE,TMPPE,TNNC1,TOP2B,TPRXL,TRAIP,TRAK1,TRANK1,TREX1,TRIM71,TSEN2,TTC21A,TTLL3,TUSC2,TWF2,UBA7,UBE2E1,UBE2E2,UBP1,UCN2,ULK4,UQCRC1,USP19,USP4,VENTXP7,VGLL4,VHL,VILL,VIPR1,VPRBP,WDR48,WDR6,WDR82,WNT5A,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZMYND10,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 87004980 87005054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 VGLL3 chr3 87034705 87034805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 VGLL3 chr3 8704908 8705804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 8704911 8705816 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 87069813 87122947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 87069813 87122947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 87069813 87122947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 87084727 87084827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87089487 87089587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87093276 89183256 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,CHMP2B,EPHA3,HTR1F,MIR4795,POU1F1,ZNF654 chr3 87115748 87115848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87173684 90576572 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,CHMP2B,EPHA3,HTR1F,MIR4795,POU1F1,ZNF654 chr3 87176949 87221486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 87184792 87184831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87200000 89400000 Gain Non-small cell lung cancer dChip 21829676 C3orf38,CGGBP1,CHMP2B,EPHA3,HTR1F,MIR4795,POU1F1,ZNF654 chr3 87203781 87736166 LOH Normal High-resolution SNP genotyping 21211785 CHMP2B,MIR4795,POU1F1 chr3 87282311 87282411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CHMP2B chr3 87346102 87346370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 87359102 87387388 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr3 87359140 87387338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 87359140 87387338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 87359140 87387338 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 87359140 87387338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 87379424 87379524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87391472 87408427 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr3 87391473 87408427 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 87391473 87408427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 87391473 87408427 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 87391473 87408427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 87434921 87438426 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr3 87463901 87463972 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 87463901 87463972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 87489431 88460236 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,HTR1F,ZNF654 chr3 87489431 89051006 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,HTR1F,ZNF654 chr3 87489431 89398691 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,EPHA3,HTR1F,ZNF654 chr3 8750253 8763451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 8750253 8763451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 8750495 8763451 Copy number Lung cancer - 20668451 NOT_FOUND chr3 8750495 8763451 Gain or loss Breast cancer - 20668451 NOT_FOUND chr3 8750495 8763451 Gain or loss Cancer - 20668451 NOT_FOUND chr3 8750495 8763451 Gain or loss Lung cancer - 20668451 NOT_FOUND chr3 8750495 8763451 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr3 8750495 8763451 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr3 8750495 8763451 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr3 8750496 8763450 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 87520518 87520623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8752706 9489016 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CAV3,LOC440944,OXTR,RAD18,SETD5,SRGAP3,THUMPD3 chr3 87529307 87529472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 87543557 87544557 Loss Renal cell carcinoma References 21215367 NOT_FOUND chr3 87548734 87549734 Gain Renal cell carcinoma References 21215367 NOT_FOUND chr3 87555912 87556012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87565213 87565296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 87570599 87570699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87649656 87649756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87650761 87650924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87650917 87651136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 87663668 88939077 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,HTR1F,ZNF654 chr3 8767114 8786300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAV3 chr3 8767114 8786300 Gain and loss Pancreatic cancer SNP array 17952125 CAV3 chr3 8767114 8786300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAV3 chr3 87739344 87764865 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 8773937 8774018 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 8777046 8791344 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 CAV3 chr3 87784431 87785910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 87814434 87848069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 87818961 88877346 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,HTR1F,ZNF654 chr3 8784001 8786000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CAV3 chr3 8785089 8786392 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 CAV3 chr3 87870044 88809270 LOH Normal High-resolution SNP genotyping 21211785 C3orf38,CGGBP1,HTR1F,ZNF654 chr3 87874383 87874488 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 87874383 87874489 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 87874383 87874489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 87972466 87985042 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 8799069 8829251 Allelic imbalance Normal High-resolution SNP genotyping 21211785 OXTR chr3 8799069 8829251 Copy number gain Normal High-resolution SNP genotyping 21211785 OXTR chr3 88042060 88042184 Gain and loss Pancreatic cancer SNP array 17952125 HTR1F chr3 88042060 88042184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR1F chr3 88042060 88042185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTR1F chr3 88091969 88092054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 88114415 88125609 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CGGBP1 chr3 88122536 88125609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGGBP1 chr3 88122536 88125609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGGBP1 chr3 88122590 88123690 Gain and loss Pancreatic cancer SNP array 17952125 CGGBP1 chr3 88131764 88131864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CGGBP1 chr3 88139725 88139913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CGGBP1 chr3 88147347 88147886 Gain and loss Pancreatic cancer SNP array 17952125 CGGBP1 chr3 88148250 88148629 Gain and loss Pancreatic cancer SNP array 17952125 CGGBP1 chr3 88183789 88190836 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CGGBP1,ZNF654 chr3 88183798 88190836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CGGBP1,ZNF654 chr3 88183798 88190836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CGGBP1,ZNF654 chr3 88187270 88281725 Gain and loss Pancreatic cancer SNP array 17952125 C3orf38,CGGBP1,ZNF654 chr3 882340 882440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88270952 88273991 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 88270952 88276504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 88270952 88276504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 88281583 88289801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 88281583 88289801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 88281583 88289803 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 88368334 88368458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 88371112 92850752 Amplification Lung cancer FISH 19547694 EPHA3 chr3 88428896 88428980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88431357 88543180 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr3 88439726 88472228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 88448441 90576572 LOH Normal High-resolution SNP genotyping 21211785 EPHA3 chr3 88536421 88536698 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 88550349 90585553 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 EPHA3 chr3 8855127 8855227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88563031 88563147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 88563031 88563149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 88567714 88567771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 88588129 88588229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8861894 8861979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88629815 88630288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 88633171 88633219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88658648 88658728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88665629 88665709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88674967 89301036 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 EPHA3 chr3 88691916 88737240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 88878168 90576572 LOH Normal High-resolution SNP genotyping 21211785 EPHA3 chr3 88878394 89398691 LOH Normal High-resolution SNP genotyping 21211785 EPHA3 chr3 8889494 8889594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88927273 88927373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 88937920 88937984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8896559 8980146 Gain or loss Breast cancer - 20668451 RAD18 chr3 8896559 8980146 Gain or loss Cancer - 20668451 RAD18 chr3 8896559 8980146 Gain or loss Lung cancer - 20668451 RAD18 chr3 8896559 8980146 Gain or loss Ovarian cancer - 20668451 RAD18 chr3 8896559 8980146 Gain or loss Pancreas cancer - 20668451 RAD18 chr3 8896559 8980146 Gain or loss Prostate cancer - 20668451 RAD18 chr3 8896561 8980146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD18 chr3 8896561 8980146 Gain and loss Pancreatic cancer SNP array 17952125 RAD18 chr3 8896561 8980146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD18 chr3 89089051 89089185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 89099554 89118390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 89106239 90576572 LOH Normal High-resolution SNP genotyping 21211785 EPHA3 chr3 89133223 89158503 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EPHA3 chr3 89157810 90576572 LOH Normal High-resolution SNP genotyping 21211785 EPHA3 chr3 89171873 90576572 LOH Normal High-resolution SNP genotyping 21211785 EPHA3 chr3 89229768 89229862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA3 chr3 89239363 89613974 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 EPHA3 chr3 89239363 89613974 Copy number Lung cancer - 20668451 EPHA3 chr3 89239363 89613974 Gain or loss Breast cancer - 20668451 EPHA3 chr3 89239363 89613974 Gain or loss Cancer - 20668451 EPHA3 chr3 89239363 89613974 Gain or loss Lung cancer - 20668451 EPHA3 chr3 89239363 89613974 Gain or loss Ovarian cancer - 20668451 EPHA3 chr3 89239363 89613974 Gain or loss Pancreas cancer - 20668451 EPHA3 chr3 89239363 89613974 Gain or loss Prostate cancer - 20668451 EPHA3 chr3 89239364 89613972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EPHA3 chr3 89239364 89613972 Gain and loss Pancreatic cancer SNP array 17952125 EPHA3 chr3 89239364 89613972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHA3 chr3 89245197 89343751 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 EPHA3 chr3 89250592 89319536 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 EPHA3 chr3 89250592 89343751 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 EPHA3 chr3 89266578 89266678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA3 chr3 89306622 89306820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA3 chr3 89306861 89306971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA3 chr3 89325567 90576572 LOH Normal High-resolution SNP genotyping 21211785 EPHA3 chr3 89337029 89337129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA3 chr3 8933913 8934003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAD18 chr3 89340595 89340695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA3 chr3 89342712 89349712 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 EPHA3 chr3 89380038 89380138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA3 chr3 89476719 89499633 Deletion Oligozoospermia Array-CGH 20877625 EPHA3 chr3 89476719 89499633 Deletion Sertoli-cell only syndrome Array-CGH 20877625 EPHA3 chr3 89476776 89500963 Loss Normal 244K array 17666407 EPHA3 chr3 89477270 89499280 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 EPHA3 chr3 89477282 89502071 Loss Normal Birdsuite, version 1.5.2 22087296 EPHA3 chr3 89477421 89495727 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 EPHA3 chr3 8948179 8948316 Gain and loss Pancreatic cancer SNP array 17952125 RAD18 chr3 8948179 8948316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD18 chr3 8948181 8948315 Gain and loss Pancreatic cancer SNP array 17952125 RAD18 chr3 89485137 89499861 Loss Autism qPCR,Affymetrix 6.0SNP array 20531469 EPHA3 chr3 89490344 89503166 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EPHA3 chr3 89492448 89503166 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 EPHA3 chr3 89502071 89503178 Loss Normal Birdsuite, version 1.5.2 22087296 EPHA3 chr3 89572978 89618156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 89573523 89603284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 89588727 95988015 Substitutions and indels small cell lung cancer array-CGH 20016488 ARL13B,DHFRL1,LOC255025,NSUN3,PROS1,STX19 chr3 89592655 89598696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 89595644 95988026 Copy number Lung cancer paired-end sequencing 18438408 ARL13B,DHFRL1,LOC255025,NSUN3,PROS1,STX19 chr3 89616998 89617067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 89619146 89629707 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 89631779 89631929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 89638717 90070475 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 89655962 89656181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 89688998 89689093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 89712322 89712410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 89719643 89719710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 89719643 89719710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 89720410 89720476 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 89720410 89720476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 89720478 89720549 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 89720478 89720549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 89727090 89778223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 89743849 89767766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 89752734 89760778 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 89752735 89760775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 89752751 89760753 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 89754371 89756830 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr3 89786756 89786823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 89823050 89823148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 8984109 9009889 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAD18 chr3 89845244 89845334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 89860341 89860423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 89889708 89894175 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 8997278 9265897 Gain and loss Pancreatic cancer SNP array 17952125 RAD18,SRGAP3 chr3 8997278 9266311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RAD18,SRGAP3 chr3 8997278 9266311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RAD18,SRGAP3 chr3 8997278 9266311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAD18,SRGAP3 chr3 89994049 90054074 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 9000000 14000000 Loss Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 ARPC4,ARPC4-TTLL3,ATG7,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CAND2,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,FBLN2,GHRL,GHRLOS,GHRLOS2,HDAC11,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,JAGN1,LHFPL4,LINC00606,LINC00620,LOC100129480,LOC100132526,LOC401052,LOC440944,MIR885,MKRN2,MTMR14,NUP210,OGG1,PPARG,PRRT3,PRRT3-AS1,RAD18,RAF1,RPL32,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,SNORA7A,SRGAP3,SYN2,TADA3,TAMM41,TATDN2,THUMPD3,TIMP4,TMEM40,TPRXL,TSEN2,TTLL3,VGLL4,VHL,WNT7A chr3 90065830 90065930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 90082443 90082501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 90091218 90091318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 90098318 90098418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 90162124 90162334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 90162124 90162335 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 9026580 9026680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP3 chr3 90316474 90316550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 90316474 90316550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 90316474 90316577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 90334044 90338051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 90334156 90334314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 90346746 96684332 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ARL13B,DHFRL1,EPHA6,LOC255025,NSUN3,PROS1,STX19 chr3 9034872 9034947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP3 chr3 90389100 90389255 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 90395744 90525615 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 NOT_FOUND chr3 90400501 90438500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 90425367 90501349 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 90447001 90501000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 90509001 90514500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 90520501 90526000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 90526001 90551250 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 9052623 9525222 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 LOC440944,SETD5,SRGAP3,THUMPD3 chr3 90551251 90553500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 90553501 90562500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 90568501 90586500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 90586501 95001000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARL13B,DHFRL1,LOC255025,NSUN3,PROS1,STX19 chr3 9094593 10343878 LOH Normal High-resolution SNP genotyping 21211785 ARPC4,ARPC4-TTLL3,BRK1,BRPF1,C3orf24,CAMK1,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LOC401052,LOC440944,MTMR14,OGG1,PRRT3,PRRT3-AS1,RPUSD3,SEC13,SETD5,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 9094593 10348577 LOH Normal High-resolution SNP genotyping 21211785 ARPC4,ARPC4-TTLL3,BRK1,BRPF1,C3orf24,CAMK1,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LOC401052,LOC440944,MTMR14,OGG1,PRRT3,PRRT3-AS1,RPUSD3,SEC13,SETD5,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 9094593 10352481 LOH Normal High-resolution SNP genotyping 21211785 ARPC4,ARPC4-TTLL3,BRK1,BRPF1,C3orf24,CAMK1,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LOC401052,LOC440944,MTMR14,OGG1,PRRT3,PRRT3-AS1,RPUSD3,SEC13,SETD5,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 91000000 121900000 Gain head and neck squamous cell carcinoma CGH 17671120 ABHD10,ABI3BP,ADPRH,ALCAM,ARGFX,ARHGAP31,ARL13B,ARL6,ATG3,ATP6V1A,B4GALT4,BBX,BOC,BTLA,C3orf17,C3orf30,C3orf52,CBLB,CCDC54,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CEP97,CLDND1,CMSS1,COL8A1,COX17,CPOX,CRYBG3,DCBLD2,DHFRL1,DPPA2,DPPA4,DRD3,DZIP3,EAF2,EPHA6,FAM172BP,FBXO40,FILIP1L,FLJ22763,FLJ25363,FSTL1,GABRR3,GAP43,GCSAM,GOLGB1,GPR128,GPR15,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,HCLS1,HGD,HHLA2,IFT57,IGSF11,IGSF11-AS1,ILDR1,IMPG2,IQCB1,KIAA1407,KIAA1524,KIAA2018,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100302640,LOC152225,LOC255025,LOC285359,LOC344595,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MINA,MIR198,MIR3921,MIR4446,MIR4796,MIR548A3,MIR548G,MIR567,MIR568,MORC1,MYH15,NAA50,NDUFB4,NFKBIZ,NIT2,NR1I2,NSUN3,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PCNP,PHLDB2,PLA1A,PLCXD2,POGLUT1,POLQ,POPDC2,PROS1,PVRL3,PVRL3-AS1,QTRTD1,RABL3,RETNLB,RPL24,SENP7,SIDT1,SLC15A2,SLC35A5,SLC9C1,SPICE1,ST3GAL6,ST3GAL6-AS1,STX19,STXBP5L,TAGLN3,TBC1D23,TFG,TIGIT,TIMMDC1,TMEM30C,TMEM39A,TMEM45A,TMPRSS7,TOMM70A,TRAT1,TRMT10C,UPK1B,WDR52,WDR52-AS1,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80,ZPLD1 chr3 91000000 198022430 Gain Breast cancer Array CGH 16461572 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91000000 198022430 Loss Neuroblastoma Affymetrix U133 Plus 2 chip 17533364 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 9121370 9121370 Copy number Prostate cancer Illumina GA II sequencer 21307934 SRGAP3 chr3 9132386 9132839 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SRGAP3 chr3 9133530 9133630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP3 chr3 9135107 9135187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP3 chr3 915435 1251928 Gain Normal 244K array 17666407 CNTN6 chr3 9156023 9156123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP3 chr3 91700000 199501827 Amplification Lung cancer MACArray Karyo 4K BAC-chips 21426551 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Amplification Melanoma Multiplex Ligation-Dependent Probe Amplification 21693616 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Gain Cervical cancer array CGH 21063398 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Gain Esophageal squamous carcinoma CGH 21637470 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Gain Glioblastoma multiforme aCGH 21080181 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Gain Liposarcoma FISH, CGH 21253554 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Gain Oral cancer 105K CGH oligonucleotide array 21386901 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Gain or loss Endometrial cancer CGH 22040021 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Gain Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 In Renal cell carcinoma MCG Whole Genome Array-4500 21228928 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Loss Breast cancer aCGH 21264507 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Loss Glioblastoma multiforme aCGH 21080181 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 199501827 Loss Glioblastoma multiforme conventional CGH 21080181 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL13B,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHFRL1,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC255025,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NSUN3,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PROS1,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STX19,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 91700000 93200000 Loss Cervical cancer Array CGH 21063398 NOT_FOUND chr3 9195673 9195747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SRGAP3 chr3 92034 990376 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-409K arrays 21546498 CHL1 chr3 9208951 9240666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SRGAP3 chr3 9229174 9229267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SRGAP3 chr3 9241290 9248008 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 SRGAP3 chr3 9266651 10343878 LOH Normal High-resolution SNP genotyping 21211785 ARPC4,ARPC4-TTLL3,BRK1,BRPF1,C3orf24,CAMK1,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LOC401052,LOC440944,MTMR14,OGG1,PRRT3,PRRT3-AS1,RPUSD3,SEC13,SETD5,SRGAP3,TADA3,TATDN2,THUMPD3,TTLL3,VHL chr3 930801 953625 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr3 9318138 9362788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr3 93200000 99800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL13B,ARL6,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,DHFRL1,EPHA6,FILIP1L,GABRR3,GPR15,LOC255025,MINA,MIR3921,MIR548G,NSUN3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PROS1,ST3GAL6,ST3GAL6-AS1,STX19 chr3 93200000 99800000 Copy number Normal - 21701786 ARL13B,ARL6,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,DHFRL1,EPHA6,FILIP1L,GABRR3,GPR15,LOC255025,MINA,MIR3921,MIR548G,NSUN3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PROS1,ST3GAL6,ST3GAL6-AS1,STX19 chr3 93200000 99800000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 ARL13B,ARL6,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,DHFRL1,EPHA6,FILIP1L,GABRR3,GPR15,LOC255025,MINA,MIR3921,MIR548G,NSUN3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PROS1,ST3GAL6,ST3GAL6-AS1,STX19 chr3 93200000 99800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARL13B,ARL6,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,DHFRL1,EPHA6,FILIP1L,GABRR3,GPR15,LOC255025,MINA,MIR3921,MIR548G,NSUN3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PROS1,ST3GAL6,ST3GAL6-AS1,STX19 chr3 93200000 99800000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 ARL13B,ARL6,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,DHFRL1,EPHA6,FILIP1L,GABRR3,GPR15,LOC255025,MINA,MIR3921,MIR548G,NSUN3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PROS1,ST3GAL6,ST3GAL6-AS1,STX19 chr3 9341728 9341822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9365127 9365876 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 9365127 9365876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 9379736 9402412 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 9379736 9402412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 9379736 9402412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 9379736 9402412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 9386301 9664600 Copy number Normal ReadDepth: A Parallel R Package 21305028 LHFPL4,LOC440944,SETD5,THUMPD3 chr3 9391007 9391135 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 9391007 9391135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 93988330 93988412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 94019674 94019774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 94038914 94039116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9413147 9413668 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 THUMPD3 chr3 9413147 9413668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 THUMPD3 chr3 9414403 9494838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC440944,SETD5,THUMPD3 chr3 9414403 9494838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC440944,SETD5,THUMPD3 chr3 94296778 94296928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9438426 9472657 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC440944,SETD5 chr3 9441891 9493143 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SETD5 chr3 94441960 94442050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9450677 9493143 Gain and loss Pancreatic cancer SNP array 17952125 SETD5 chr3 94521614 94521714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 94819620 94819720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 94832200 94832300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 94962978 97732910 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARL6,CRYBG3,EPHA6,GABRR3,MINA chr3 94994003 95230688 Gain Autism qPCR 20531469 NOT_FOUND chr3 94994003 99339023 Microdeletion Epilepsy array CGH (Nimblegen 135 K v3.1) Illumina 610quad microarrays 21858020 ARL6,CLDND1,CPOX,CRYBG3,DCBLD2,EPHA6,GABRR3,GPR15,MINA,MIR548G,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 95000000 199000000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 95003074 117725406 Copy number Lung cancer paired-end sequencing 18438408 ABHD10,ABI3BP,ALCAM,ARL6,ATG3,ATP6V1A,BBX,BOC,BTLA,C3orf17,C3orf52,CBLB,CCDC54,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD96,CEP97,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,DPPA2,DPPA4,DRD3,DZIP3,EPHA6,FAM172BP,FILIP1L,FLJ22763,FLJ25363,GABRR3,GAP43,GCSAM,GPR128,GPR15,GRAMD1C,GTPBP8,GUCA1C,HHLA2,IFT57,IMPG2,KIAA1407,KIAA1524,KIAA2018,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100302640,LOC152225,LOC285359,LOC344595,LSAMP,LSAMP-AS3,MINA,MIR3921,MIR4446,MIR4796,MIR548A3,MIR548G,MIR567,MIR568,MORC1,MYH15,NAA50,NFKBIZ,NIT2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PCNP,PHLDB2,PLCXD2,PVRL3,PVRL3-AS1,QTRTD1,RETNLB,RPL24,SENP7,SIDT1,SLC35A5,SLC9C1,SPICE1,ST3GAL6,ST3GAL6-AS1,TAGLN3,TBC1D23,TFG,TIGIT,TMEM30C,TMEM45A,TMPRSS7,TOMM70A,TRAT1,TRMT10C,WDR52,WDR52-AS1,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80,ZPLD1 chr3 95019980 127726695 Copy number gain Normal High-resolution SNP genotyping 21211785 ABHD10,ABI3BP,ABTB1,ADCY5,ADPRH,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ARGFX,ARHGAP31,ARL6,ATG3,ATP6V1A,B4GALT4,BBX,BOC,BTLA,C3orf17,C3orf22,C3orf30,C3orf52,CASR,CBLB,CCDC14,CCDC37,CCDC54,CCDC58,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CEP97,CHCHD6,CHST13,CLDND1,CMSS1,COL8A1,COX17,CPOX,CRYBG3,CSTA,DCBLD2,DIRC2,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,EPHA6,FAM162A,FAM172BP,FAM86JP,FBXO40,FILIP1L,FLJ22763,FLJ25363,FSTL1,GABRR3,GAP43,GCSAM,GOLGB1,GPR128,GPR15,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,HCLS1,HEG1,HGD,HHLA2,HSPBAP1,IFT57,IGSF11,IGSF11-AS1,ILDR1,IMPG2,IQCB1,ITGB5,KALRN,KBTBD12,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100129550,LOC100302640,LOC152225,LOC285359,LOC344595,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MCM2,MGLL,MINA,MIR198,MIR3921,MIR4446,MIR4796,MIR5002,MIR5092,MIR548A3,MIR548G,MIR548I1,MIR567,MIR568,MORC1,MUC13,MYH15,MYLK,MYLK-AS1,NAA50,NDUFB4,NFKBIZ,NIT2,NR1I2,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,PARP14,PARP15,PARP9,PCNP,PDIA5,PHLDB2,PLA1A,PLCXD2,PLXNA1,PODXL2,POGLUT1,POLQ,POPDC2,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RABL3,RETNLB,ROPN1,ROPN1B,RPL24,SEC22A,SEMA5B,SENP7,SIDT1,SLC12A8,SLC15A2,SLC35A5,SLC41A3,SLC9C1,SNX4,SPICE1,ST3GAL6,ST3GAL6-AS1,STXBP5L,TAGLN3,TBC1D23,TFG,TIGIT,TIMMDC1,TMEM30C,TMEM39A,TMEM45A,TMPRSS7,TOMM70A,TPRA1,TRAT1,TRMT10C,TXNRD3,TXNRD3NB,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF80,ZPLD1,ZXDC chr3 95019980 136643170 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACPP,ADCY5,ADPRH,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,AMOTL2,ANAPC13,ARGFX,ARHGAP31,ARL6,ASTE1,ATG3,ATP2C1,ATP6V1A,B4GALT4,BBX,BFSP2,BOC,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf36,C3orf37,C3orf52,CASR,CBLB,CCDC14,CCDC37,CCDC48,CCDC54,CCDC58,CCDC80,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP97,CHCHD6,CHST13,CLDND1,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COPG1,COX17,CPNE4,CPOX,CRYBG3,CSTA,DCBLD2,DIRC2,DNAJB8,DNAJB8-AS1,DNAJC13,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,EEFSEC,EFCAB12,EPHA6,EPHB1,FAM162A,FAM172BP,FAM86HP,FAM86JP,FBXO40,FILIP1L,FLJ22763,FLJ25363,FSTL1,GABRR3,GAP43,GATA2,GCSAM,GOLGB1,GP9,GPR128,GPR15,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HHLA2,HSPBAP1,IFT122,IFT57,IGSF11,IGSF11-AS1,ILDR1,IMPG2,IQCB1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KPNA1,KY,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100129550,LOC100302640,LOC100507032,LOC152225,LOC285359,LOC339874,LOC344595,LOC653712,LOC90246,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MBD4,MCM2,MGLL,MINA,MIR198,MIR3921,MIR4446,MIR4788,MIR4796,MIR5002,MIR5092,MIR548A3,MIR548G,MIR548I1,MIR567,MIR568,MIR5704,MORC1,MRPL3,MSL2,MUC13,MYH15,MYLK,MYLK-AS1,NAA50,NCK1,NDUFB4,NEK11,NFKBIZ,NIT2,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,PARP14,PARP15,PARP9,PCCB,PCNP,PDIA5,PHLDB2,PIK3R4,PLA1A,PLCXD2,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POPDC2,PPP2R3A,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RETNLB,RHO,ROPN1,ROPN1B,RPL24,RPL32P3,RPN1,RUVBL1,RYK,SEC22A,SEC61A1,SEMA5B,SENP7,SIDT1,SLC12A8,SLC15A2,SLC35A5,SLC35G2,SLC41A3,SLC9C1,SLCO2A1,SNORA58,SNORA7B,SNX4,SPICE1,SRPRB,ST3GAL6,ST3GAL6-AS1,STAG1,STXBP5L,TAGLN3,TBC1D23,TF,TFG,TIGIT,TIMMDC1,TMCC1,TMEM108,TMEM30C,TMEM39A,TMEM45A,TMPRSS7,TOMM70A,TOPBP1,TPRA1,TRAT1,TRH,TRMT10C,TXNRD3,TXNRD3NB,UBA5,UMPS,UPK1B,UROC1,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF148,ZNF80,ZPLD1,ZXDC chr3 95019980 194358152 Allelic imbalance Normal High-resolution SNP genotyping 21211785 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKUB1,AP2M1,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHX36,DIRC2,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM162A,FAM172BP,FAM194A,FAM86HP,FAM86JP,FBXO40,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507537,LOC152225,LOC201651,LOC253573,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRRC15,LRRC31,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5704,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TERC,TF,TFDP2,TFG,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR5B,WWTR1,WWTR1-AS1,XRN1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 95019980 95604043 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 95019980 95658290 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 95019980 95686130 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 95019980 95738823 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 95019980 96395714 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr3 95019980 96541170 LOH Normal High-resolution SNP genotyping 21211785 EPHA6 chr3 95019980 96545028 LOH Normal High-resolution SNP genotyping 21211785 EPHA6 chr3 95019980 97423215 LOH Normal High-resolution SNP genotyping 21211785 EPHA6 chr3 95019980 99288061 Copy number loss Normal High-resolution SNP genotyping 21211785 ARL6,CLDND1,CPOX,CRYBG3,DCBLD2,EPHA6,GABRR3,GPR15,MINA,MIR548G,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 95030000 120210000 Loss Acute lymphoblastic leukemia - 21339820 ABHD10,ABI3BP,ADPRH,ALCAM,ARHGAP31,ARL6,ATG3,ATP6V1A,B4GALT4,BBX,BOC,BTLA,C3orf17,C3orf30,C3orf52,CBLB,CCDC54,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD96,CEP97,CLDND1,CMSS1,COL8A1,COX17,CPOX,CRYBG3,DCBLD2,DPPA2,DPPA4,DRD3,DZIP3,EPHA6,FAM172BP,FILIP1L,FLJ22763,FLJ25363,FSTL1,GABRR3,GAP43,GCSAM,GPR128,GPR15,GPR156,GRAMD1C,GSK3B,GTPBP8,GUCA1C,HHLA2,IFT57,IGSF11,IGSF11-AS1,IMPG2,KIAA1407,KIAA1524,KIAA2018,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100302640,LOC152225,LOC285359,LOC344595,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MINA,MIR198,MIR3921,MIR4446,MIR4796,MIR548A3,MIR548G,MIR567,MIR568,MORC1,MYH15,NAA50,NFKBIZ,NIT2,NR1I2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PCNP,PHLDB2,PLA1A,PLCXD2,POGLUT1,POPDC2,PVRL3,PVRL3-AS1,QTRTD1,RETNLB,RPL24,SENP7,SIDT1,SLC35A5,SLC9C1,SPICE1,ST3GAL6,ST3GAL6-AS1,TAGLN3,TBC1D23,TFG,TIGIT,TIMMDC1,TMEM30C,TMEM39A,TMEM45A,TMPRSS7,TOMM70A,TRAT1,TRMT10C,UPK1B,WDR52,WDR52-AS1,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80,ZPLD1 chr3 95031169 199501827 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-383K arrays 21546498 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACAP2,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKRD18DP,ANKUB1,AP2M1,APOD,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP13A3,ATP13A4,ATP13A5,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BDH1,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf43,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC50,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP19,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPN2,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHX36,DIRC2,DLG1,DLG1-AS1,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM157A,FAM162A,FAM172BP,FAM194A,FAM43A,FAM86HP,FAM86JP,FBXO40,FBXO45,FETUB,FGF12,FILIP1L,FLJ22763,FLJ25363,FLJ34208,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,FYTTD1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMNC,GMPS,GNB4,GOLGB1,GOLIM4,GP5,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HES1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRASLS,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCG,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA0226,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LMLN,LNP1,LOC100009676,LOC100128023,LOC100128164,LOC100129550,LOC100131551,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507391,LOC100507537,LOC152217,LOC152225,LOC201651,LOC220729,LOC253573,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC401109,LOC646168,LOC646903,LOC647107,LOC647323,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRCH3,LRRC15,LRRC31,LRRC33,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LSG1,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MB21D2,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFI2,MFI2-AS1,MFN1,MFSD1,MGC2889,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR4797,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5692C1,MIR570,MIR5704,MIR922,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MUC20,MUC4,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCBP2,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OPA1,OPA1-AS1,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OSTN,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAK2,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PCYT1A,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIGX,PIGZ,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP1R2,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,PYDC2,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF168,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL35A,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SDHAP1,SDHAP2,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP5,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC51A,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNAR-I,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TCTEX1D2,TERC,TF,TFDP2,TFG,TFRC,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF19,TM4SF19-TCTEX1D2,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM44,TMEM44-AS1,TMEM45A,TMPRSS7,TNFSF10,TNIK,TNK2,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UBXN7,UMPS,UPK1B,UROC1,USP13,UTS2D,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR53,WDR5B,WWTR1,WWTR1-AS1,XRN1,XXYLT1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC19,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 95031169 96361848 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-415K arrays 21546498 NOT_FOUND chr3 95045298 95045374 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95045298 95045374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95074643 95175416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95074643 95175416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95074647 95175395 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95112766 95126868 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr3 95120134 95120234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9515046 9570486 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LHFPL4,SETD5 chr3 9515046 9570486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LHFPL4,SETD5 chr3 9515046 9570486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LHFPL4,SETD5 chr3 95160010 95226611 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 NOT_FOUND chr3 95160010 95226611 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 NOT_FOUND chr3 95169460 95169551 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95169460 95169552 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95169460 95169554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 9517826 11146712 Gain Urothelial carcinoma array CGH validated by FISH 21177765 ARPC4,ARPC4-TTLL3,ATP2B2,BRK1,BRPF1,C3orf24,CAMK1,CIDEC,CIDECP,CPNE9,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,IL17RC,IL17RE,IRAK2,JAGN1,LHFPL4,LINC00606,LOC401052,MIR885,MTMR14,OGG1,PRRT3,PRRT3-AS1,RPUSD3,SEC13,SETD5,SLC6A1,SLC6A1-AS1,SLC6A11,TADA3,TATDN2,TTLL3,VHL chr3 95178563 95178666 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95178563 95178669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95178563 95178671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95181672 95256811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95181672 95256811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95181672 95256811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95181672 95256813 Copy number Autism exome sequencing 22495311 NOT_FOUND chr3 9518481 9570486 Gain and loss Pancreatic cancer SNP array 17952125 LHFPL4,SETD5 chr3 95215907 95230144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95215907 95230144 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95215907 95230144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95259455 95264350 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 NOT_FOUND chr3 95259458 95264350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95259458 95264757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95259458 95264757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95264537 95328320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95264545 95328320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95264545 95328320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95302663 95302695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95327062 96581235 LOH Normal High-resolution SNP genotyping 21211785 EPHA6 chr3 95335944 95335976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95470839 95470937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95523587 95562313 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 95632458 95632558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95642074 95642174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95652227 95727194 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 95672388 95672471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95686130 97570684 LOH Normal High-resolution SNP genotyping 21211785 ARL6,CRYBG3,EPHA6 chr3 95708300 95709154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95708300 95709154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 95708300 95709154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 95719869 95720095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 95722123 97008123 LOH Normal High-resolution SNP genotyping 21211785 EPHA6 chr3 95740500 97008123 LOH Normal High-resolution SNP genotyping 21211785 EPHA6 chr3 957590 957905 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 95797859 95797959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95863895 95863995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95881822 95881922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95917505 101945216 Amplification Esophageal cancer affymetrix genechip human mapping 251K Nsp arrays 21851588 ABI3BP,ARL6,CEP97,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,EPHA6,FAM172BP,FILIP1L,GABRR3,GPR128,GPR15,IMPG2,LNP1,LOC100009676,LOC152225,LOC285359,MINA,MIR3921,MIR548G,NFKBIZ,NIT2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PCNP,RPL24,SENP7,ST3GAL6,ST3GAL6-AS1,TBC1D23,TFG,TMEM30C,TMEM45A,TOMM70A,TRMT10C,ZBTB11 chr3 95941373 95941447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95946011 95946103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 95980446 96758442 LOH Normal High-resolution SNP genotyping 21211785 EPHA6 chr3 95992827 109093035 Substitutions and indels small cell lung cancer array-CGH 20016488 ABI3BP,ALCAM,ARL6,BBX,CBLB,CCDC54,CD47,CEP97,CLDND1,CMSS1,COL8A1,CPOX,CRYBG3,DCBLD2,DPPA2,DPPA4,DZIP3,EPHA6,FAM172BP,FILIP1L,FLJ22763,GABRR3,GPR128,GPR15,GUCA1C,HHLA2,IFT57,IMPG2,KIAA1524,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100302640,LOC152225,LOC285359,LOC344595,MINA,MIR3921,MIR548A3,MIR548G,MORC1,MYH15,NFKBIZ,NIT2,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,PCNP,RETNLB,RPL24,SENP7,ST3GAL6,ST3GAL6-AS1,TBC1D23,TFG,TMEM30C,TMEM45A,TOMM70A,TRAT1,TRMT10C,ZBTB11,ZPLD1 chr3 96003234 190452046 Copy number Lung cancer paired-end sequencing 18438408 A4GNT,AADAC,AADACL2,ABCC5,ABCC5-AS1,ABCF3,ABHD10,ABI3BP,ABTB1,ACAD11,ACAD9,ACPL2,ACPP,ACTL6A,ACTRT3,ADCY5,ADIPOQ,ADIPOQ-AS1,ADPRH,AGTR1,AHSG,ALCAM,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,ALG1L,ALG1L2,ALG3,AMOTL2,ANAPC13,ANKUB1,AP2M1,ARGFX,ARHGAP31,ARHGEF26,ARHGEF26-AS1,ARL14,ARL6,ARMC8,ASTE1,ATG3,ATP11B,ATP1B3,ATP2C1,ATP6V1A,ATR,B3GALNT1,B3GNT5,B4GALT4,BBX,BCHE,BCL6,BFSP2,BOC,BPESC1,BTLA,C3orf17,C3orf22,C3orf27,C3orf30,C3orf33,C3orf36,C3orf37,C3orf52,C3orf55,C3orf58,C3orf65,C3orf70,C3orf72,C3orf79,C3orf80,CAMK2N2,CASR,CBLB,CCDC14,CCDC37,CCDC39,CCDC48,CCDC54,CCDC58,CCDC80,CCNL1,CCRL1,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CDV3,CEP63,CEP70,CEP97,CHCHD6,CHRD,CHST13,CHST2,CLCN2,CLDN1,CLDN11,CLDN16,CLDN18,CLDND1,CLRN1,CLRN1-AS1,CLSTN2,CMSS1,CNBP,COL6A4P2,COL6A5,COL6A6,COL8A1,COMMD2,COPB2,COPG1,COX17,CP,CPA3,CPB1,CPNE4,CPOX,CRYBG3,CRYGS,CSTA,DBR1,DCBLD2,DCUN1D1,DGKG,DHX36,DIRC2,DNAJB11,DNAJB8,DNAJB8-AS1,DNAJC13,DNAJC19,DPPA2,DPPA4,DRD3,DTX3L,DVL3,DZIP1L,DZIP3,EAF2,ECE2,ECT2,EEFSEC,EFCAB12,EGFEM1P,EHHADH,EHHADH-AS1,EIF2A,EIF2B5,EIF4A2,EIF4G1,EIF5A2,EPHA6,EPHB1,EPHB3,ESYT3,ETV5,FAIM,FAM131A,FAM162A,FAM172BP,FAM194A,FAM86HP,FAM86JP,FBXO40,FETUB,FILIP1L,FLJ22763,FLJ25363,FLJ42393,FLJ46066,FNDC3B,FOXL2,FSTL1,FXR1,GABRR3,GAP43,GATA2,GCSAM,GFM1,GHSR,GK5,GMPS,GNB4,GOLGB1,GOLIM4,GP9,GPR128,GPR149,GPR15,GPR156,GPR160,GPR171,GPR87,GRAMD1C,GRK7,GSK3B,GTF2E1,GTPBP8,GUCA1C,GYG1,H1FOO,H1FX,H1FX-AS1,HCLS1,HEG1,HGD,HHLA2,HLTF,HLTF-AS1,HPS3,HRG,HSPBAP1,HTR3C,HTR3D,HTR3E,IFT122,IFT57,IFT80,IGF2BP2,IGSF10,IGSF11,IGSF11-AS1,IL12A,IL1RAP,IL20RB,ILDR1,IMPG2,IQCB1,IQCJ,IQCJ-SCHIP1,ISY1,ISY1-RAB43,ITGB5,KALRN,KBTBD12,KCNAB1,KCNAB1-AS1,KCNAB1-AS2,KCNMB2,KCNMB2-IT1,KCNMB3,KIAA1257,KIAA1407,KIAA1524,KIAA2018,KLF15,KLHL24,KLHL6,KNG1,KPNA1,KPNA4,KY,LAMP3,LEKR1,LEPREL1,LINC00488,LINC00578,LINC00635,LINC00636,LIPH,LNP1,LOC100009676,LOC100128164,LOC100129550,LOC100131635,LOC100289361,LOC100302640,LOC100498859,LOC100505687,LOC100507032,LOC100507389,LOC100507537,LOC152225,LOC201651,LOC253573,LOC285359,LOC339874,LOC339894,LOC344595,LOC344887,LOC401093,LOC646168,LOC646903,LOC647107,LOC653712,LOC730091,LOC90246,LPP,LPP-AS2,LRRC31,LRRC34,LRRC58,LRRIQ4,LSAMP,LSAMP-AS3,LXN,MAATS1,MAGEF1,MAP3K13,MAP6D1,MASP1,MBD4,MBNL1,MCCC1,MCF2L2,MCM2,MECOM,MED12L,MFN1,MFSD1,MGLL,MINA,MIR1224,MIR1248,MIR15B,MIR16-2,MIR198,MIR3919,MIR3921,MIR4446,MIR4788,MIR4789,MIR4796,MIR5002,MIR5092,MIR5186,MIR548A3,MIR548G,MIR548H2,MIR548I1,MIR551B,MIR567,MIR568,MIR569,MIR5704,MIR944,MLF1,MME,MORC1,MRAS,MRPL3,MRPL47,MRPS22,MSL2,MUC13,MYH15,MYLK,MYLK-AS1,MYNN,NAA50,NAALADL2,NAALADL2-AS3,NCEH1,NCK1,NDUFB4,NDUFB5,NEK11,NFKBIZ,NIT2,NLGN1,NMD3,NME9,NMNAT3,NPHP3,NPHP3-ACAD11,NPHP3-AS1,NR1I2,NUDT16,NUDT16P1,NUP210P1,NXPE3,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,OSBPL11,OTOL1,P2RY1,P2RY12,P2RY13,P2RY14,PA2G4P4,PAQR9,PARL,PARP14,PARP15,PARP9,PCCB,PCNP,PCOLCE2,PDCD10,PDIA5,PEX5L,PFN2,PHC3,PHLDB2,PIK3CA,PIK3CB,PIK3R4,PISRT1,PLA1A,PLCH1,PLCXD2,PLD1,PLOD2,PLS1,PLSCR1,PLSCR2,PLSCR4,PLSCR5,PLXNA1,PLXND1,PODXL2,POGLUT1,POLQ,POLR2H,POPDC2,PPM1L,PPP2R3A,PRKCI,PRR23A,PRR23B,PRR23C,PSMD2,PTPLB,PTX3,PVRL3,PVRL3-AS1,QTRTD1,RAB43,RAB6B,RAB7A,RABL3,RAP2B,RARRES1,RASA2,RBP1,RBP2,RETNLB,RFC4,RHO,RNF13,RNF7,ROPN1,ROPN1B,RPL22L1,RPL24,RPL32P3,RPL39L,RPN1,RSRC1,RTP1,RTP2,RTP4,RUVBL1,RYK,SAMD7,SCARNA7,SCHIP1,SEC22A,SEC61A1,SEC62,SELT,SEMA5B,SENP2,SENP7,SERP1,SERPINI1,SERPINI2,SHOX2,SI,SIAH2,SIDT1,SKIL,SLC12A8,SLC15A2,SLC25A36,SLC2A2,SLC33A1,SLC35A5,SLC35G2,SLC41A3,SLC7A14,SLC9A9,SLC9A9-AS1,SLC9C1,SLCO2A1,SLITRK3,SMC4,SNORA4,SNORA58,SNORA63,SNORA7B,SNORA81,SNORD2,SNORD66,SNX4,SOX14,SOX2,SOX2-OT,SPATA16,SPICE1,SPSB4,SPTSSB,SRPRB,SSR3,SST,ST3GAL6,ST3GAL6-AS1,ST6GAL1,STAG1,STXBP5L,SUCNR1,TAGLN3,TBC1D23,TBCCD1,TBL1XR1,TERC,TF,TFDP2,TFG,THPO,TIGIT,TIMMDC1,TIPARP,TIPARP-AS1,TM4SF1,TM4SF18,TM4SF4,TMCC1,TMEM108,TMEM14E,TMEM207,TMEM212,TMEM30C,TMEM39A,TMEM41A,TMEM45A,TMPRSS7,TNFSF10,TNIK,TOMM70A,TOPBP1,TP63,TPRA1,TPRG1,TPRG1-AS2,TRA2B,TRAT1,TRH,TRIM42,TRIM59,TRMT10C,TRPC1,TSC22D2,TTC14,TXNRD3,TXNRD3NB,U2SURP,UBA5,UMPS,UPK1B,UROC1,USP13,VEPH1,VPS8,VWA5B2,WDR49,WDR52,WDR52-AS1,WDR5B,WWTR1,WWTR1-AS1,XRN1,YEATS2,ZBBX,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZBTB38,ZDHHC23,ZIC1,ZIC4,ZMAT3,ZNF148,ZNF639,ZNF80,ZPLD1,ZXDC chr3 9603375 48299470 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABHD5,ACAA1,ACVR2B,ACVR2B-AS1,ALS2CL,ANKRD28,ANO10,ARPC4,ARPC4-TTLL3,ARPP21,ATG7,ATP2B2,AZI2,BRK1,BRPF1,BTD,C3orf20,C3orf24,C3orf35,C3orf77,CAMK1,CAMP,CAND2,CAPN7,CCBP2,CCDC12,CCDC13,CCDC13-AS1,CCDC174,CCK,CCR1,CCR2,CCR3,CCR4,CCR5,CCR8,CCR9,CCRL2,CDC25A,CDCP1,CHCHD4,CIDEC,CIDECP,CLASP2,CLEC3B,CMC1,CMTM6,CMTM7,CMTM8,CNOT10,COL6A4P1,COLQ,CPNE9,CRELD1,CRTAP,CSPG5,CSRNP1,CTDSPL,CTNNB1,CX3CR1,CXCR6,CYP8B1,DAZL,DCLK3,DHX30,DLEC1,DPH3,DYNC1LI1,EAF1,EFHB,EIF1B,ELP6,EMC3,ENTPD3,ENTPD3-AS1,EOMES,EPM2AIP1,EXOG,EXOSC7,FAM198A,FANCD2,FBLN2,FBXL2,FGD5,FGD5-AS1,FLJ33065,FLJ39534,FYCO1,GADL1,GALNTL2,GHRL,GHRLOS,GHRLOS2,GLB1,GOLGA4,GORASP1,GPD1L,GRIP2,GTDC2,HACL1,HDAC11,HHATL,HIGD1A,HRH1,IL17RC,IL17RE,IQSEC1,IRAK2,ITGA9,JAGN1,KAT2B,KBTBD5,KCNH8,KIAA1143,KIF15,KIF9,KLHL18,KRBOX1,LARS2,LARS2-AS1,LIMD1,LIMD1-AS1,LINC00606,LINC00620,LOC100129480,LOC100132146,LOC100132526,LOC100505696,LOC152024,LOC285326,LOC339862,LOC401052,LOC644990,LOC645206,LRRC2,LRRC3B,LRRFIP2,LSM3,LTF,LYZL4,LZTFL1,MAP4,METTL6,MIR1226,MIR128-2,MIR138-1,MIR26A1,MIR3714,MIR4270,MIR4442,MIR4443,MIR4791,MIR4792,MIR548AC,MIR563,MIR564,MIR885,MKRN2,MLH1,MOBP,MRPS25,MTMR14,MYD88,MYL3,MYRIP,NBEAL2,NEK10,NGLY1,NKIRAS1,NKTR,NR1D2,NR2C2,NRADDP,NUP210,OGG1,OSBPL10,OSBPL10-AS1,OXNAD1,OXSM,OXSR1,PDCD6IP,PLCD1,PLCL2,PP2D1,PPARG,PRRT3,PRRT3-AS1,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,RAB5A,RAF1,RARB,RBMS3,RFTN1,RPL14,RPL15,RPL32,RPSA,RPUSD3,RTP3,SACM1L,SATB1,SCAP,SCN10A,SCN11A,SCN5A,SEC13,SEC22C,SETD2,SGOL1,SGOL1-AS1,SH3BP5,SLC22A13,SLC22A14,SLC25A38,SLC4A7,SLC6A1,SLC6A1-AS1,SLC6A11,SLC6A20,SLC6A6,SMARCC1,SNORA6,SNORA62,SNORA7A,SNRK,SNRK-AS1,SS18L2,STAC,STT3B,SUSD5,SYN2,TADA3,TAMM41,TATDN2,TBC1D5,TCAIM,TDGF1,TGFBR2,TGM4,THRB,TIMP4,TMEM158,TMEM40,TMEM42,TMEM43,TMIE,TMPPE,TOP2B,TPRXL,TRAK1,TRANK1,TRIM71,TSEN2,TTC21A,TTLL3,UBE2E1,UBE2E2,UBP1,ULK4,VENTXP7,VGLL4,VHL,VILL,VIPR1,WDR48,WNT7A,XCR1,XIRP1,XPC,XYLB,ZBTB47,ZCWPW2,ZDHHC3,ZFYVE20,ZNF167,ZNF197,ZNF35,ZNF385D,ZNF445,ZNF501,ZNF502,ZNF589,ZNF619,ZNF620,ZNF621,ZNF660,ZNF662,ZNF860 chr3 96130589 96130689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 96138620 96139558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 96138620 96139558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 96138629 96139600 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 96172820 96286311 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr3 96242194 97149282 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 EPHA6 chr3 96305201 96305301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 96332836 96332926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 96343724 96353706 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr3 96395973 96396073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 96514886 96514986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 96567779 98730807 LOH Normal High-resolution SNP genotyping 21211785 ARL6,CLDND1,CPOX,CRYBG3,DCBLD2,EPHA6,GABRR3,GPR15,MINA,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 96598883 96599212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPHA6 chr3 96638238 96638338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA6 chr3 9664601 9867000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARPC4,ARPC4-TTLL3,BRPF1,CAMK1,CPNE9,MTMR14,OGG1,TADA3,TTLL3 chr3 9666144 9719076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MTMR14 chr3 9666144 9719076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MTMR14 chr3 9666144 9719076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTMR14 chr3 9666146 9719076 Gain and loss Pancreatic cancer SNP array 17952125 MTMR14 chr3 96766457 96876444 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 EPHA6 chr3 96767852 96767946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA6 chr3 96807290 96853074 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EPHA6 chr3 96838866 97543905 Copy number loss Normal High-resolution SNP genotyping 21211785 ARL6,CRYBG3,EPHA6 chr3 96838866 97543905 LOH Normal High-resolution SNP genotyping 21211785 ARL6,CRYBG3,EPHA6 chr3 96838866 98191133 LOH Normal High-resolution SNP genotyping 21211785 ARL6,CRYBG3,EPHA6,GABRR3,MINA,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K3,OR5K4 chr3 96867744 96867844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA6 chr3 96869428 96869497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPHA6 chr3 96948455 96953453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EPHA6 chr3 96948570 96950999 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 EPHA6 chr3 96956963 96957058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA6 chr3 9696501 9962500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARPC4,ARPC4-TTLL3,BRPF1,CAMK1,CIDEC,CPNE9,IL17RC,IL17RE,JAGN1,MTMR14,OGG1,RPUSD3,TADA3,TTLL3 chr3 9702617 9702717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MTMR14 chr3 97062650 97062735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA6 chr3 97065790 97065882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA6 chr3 97145031 97673844 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 ARL6,CRYBG3,EPHA6,MINA chr3 9720510 9746591 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPNE9,MTMR14 chr3 9720510 9746591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPNE9,MTMR14 chr3 9720510 9746591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE9,MTMR14 chr3 9720510 9746592 Gain and loss Pancreatic cancer SNP array 17952125 CPNE9,MTMR14 chr3 97271120 97271196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHA6 chr3 97286566 99271914 LOH Normal High-resolution SNP genotyping 21211785 ARL6,CLDND1,CPOX,CRYBG3,DCBLD2,EPHA6,GABRR3,GPR15,MINA,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 9733305 9733424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MTMR14 chr3 97368351 97368436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EPHA6 chr3 97391110 97391210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EPHA6 chr3 97400531 98792891 LOH Normal High-resolution SNP genotyping 21211785 ARL6,CLDND1,CPOX,CRYBG3,DCBLD2,EPHA6,GABRR3,GPR15,MINA,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 97452484 97498058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARL6,EPHA6 chr3 9748432 9764556 Gain and loss Pancreatic cancer SNP array 17952125 CPNE9 chr3 9748434 9764699 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CPNE9 chr3 9748434 9764699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPNE9 chr3 9748434 9764699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPNE9 chr3 97519031 97519130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 97533396 97534493 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 97551217 97552456 Gain and loss Pancreatic cancer SNP array 17952125 CRYBG3 chr3 97634849 97634944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRYBG3 chr3 9765704 9783342 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 BRPF1,CPNE9 chr3 9765704 9783342 Gain or loss Breast cancer - 20668451 BRPF1,CPNE9 chr3 9765704 9783342 Gain or loss Cancer - 20668451 BRPF1,CPNE9 chr3 9765704 9783342 Gain or loss Lung cancer - 20668451 BRPF1,CPNE9 chr3 9765704 9783342 Gain or loss Ovarian cancer - 20668451 BRPF1,CPNE9 chr3 9765704 9783342 Gain or loss Pancreas cancer - 20668451 BRPF1,CPNE9 chr3 9765704 9783342 Gain or loss Prostate cancer - 20668451 BRPF1,CPNE9 chr3 9765705 9783342 Gain and loss Pancreatic cancer SNP array 17952125 BRPF1,CPNE9 chr3 9765705 9783421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRPF1,CPNE9 chr3 9765705 9783421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRPF1,CPNE9 chr3 9765705 9783421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRPF1,CPNE9 chr3 97659543 98839723 LOH Normal High-resolution SNP genotyping 21211785 CLDND1,CPOX,CRYBG3,DCBLD2,GABRR3,GPR15,MINA,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 97676889 97676989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MINA chr3 97737152 97737203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GABRR3 chr3 9774026 9786661 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BRPF1 chr3 9774026 9786661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BRPF1 chr3 9774026 9786661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BRPF1 chr3 9774032 9786661 Gain and loss Pancreatic cancer SNP array 17952125 BRPF1 chr3 97743766 98872440 LOH Normal High-resolution SNP genotyping 21211785 CLDND1,CPOX,DCBLD2,GABRR3,GPR15,OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 97768572 97768629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 97794123 97794212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 97810348 97810451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 97810352 97810451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 97810354 97810451 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 97819770 97819838 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 97819770 97819838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 97820838 97821365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 97820841 97821365 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 97838851 97838950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9785686 9785786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BRPF1 chr3 97867728 97867813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 97874051 97875051 Gain Chordoma References 21215367 NOT_FOUND chr3 97932142 97932231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9796658 9809420 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CAMK1,OGG1 chr3 9796658 9809420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CAMK1,OGG1 chr3 9796658 9809420 Gain and loss Pancreatic cancer SNP array 17952125 CAMK1,OGG1 chr3 9796658 9809420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMK1,OGG1 chr3 97978469 97979221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 97978791 97979221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 98015001 98017000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr3 98016114 98950476 Gain or loss Breast cancer - 20668451 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98016114 98950476 Gain or loss Cancer - 20668451 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98016114 98950476 Gain or loss Lung cancer - 20668451 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98016114 98950476 Gain or loss Ovarian cancer - 20668451 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98016114 98950476 Gain or loss Pancreas cancer - 20668451 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98016114 98950476 Gain or loss Prostate cancer - 20668451 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98016311 98950235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98016311 98950235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98016314 98650275 Gain and loss Pancreatic cancer SNP array 17952125 CLDND1,CPOX,DCBLD2,GPR15,OR5K1,OR5K2,OR5K3,OR5K4,ST3GAL6,ST3GAL6-AS1 chr3 98053206 98053296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9809227 9853037 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARPC4,ARPC4-TTLL3,CAMK1,TADA3,TTLL3 chr3 9809227 9853037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARPC4,ARPC4-TTLL3,CAMK1,TADA3,TTLL3 chr3 9809227 9853037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARPC4,ARPC4-TTLL3,CAMK1,TADA3,TTLL3 chr3 9809734 9852773 Gain and loss Pancreatic cancer SNP array 17952125 ARPC4,ARPC4-TTLL3,CAMK1,TADA3,TTLL3 chr3 9814342 9853040 Gain or loss Breast cancer - 20668451 ARPC4,ARPC4-TTLL3,TADA3,TTLL3 chr3 9814342 9853040 Gain or loss Cancer - 20668451 ARPC4,ARPC4-TTLL3,TADA3,TTLL3 chr3 9814342 9853040 Gain or loss Lung cancer - 20668451 ARPC4,ARPC4-TTLL3,TADA3,TTLL3 chr3 9814342 9853040 Gain or loss Ovarian cancer - 20668451 ARPC4,ARPC4-TTLL3,TADA3,TTLL3 chr3 9814342 9853040 Gain or loss Pancreas cancer - 20668451 ARPC4,ARPC4-TTLL3,TADA3,TTLL3 chr3 9814342 9853040 Gain or loss Prostate cancer - 20668451 ARPC4,ARPC4-TTLL3,TADA3,TTLL3 chr3 9815277 9817824 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr3 98158904 99289470 LOH Normal High-resolution SNP genotyping 21211785 CLDND1,CPOX,DCBLD2,GPR15,MIR548G,OR5K1,OR5K2,ST3GAL6,ST3GAL6-AS1 chr3 98241497 98241555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLDND1 chr3 98281576 98281676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 98297804 98297904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9834234 9834885 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ARPC4,ARPC4-TTLL3,TADA3 chr3 9837220 9845693 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARPC4,ARPC4-TTLL3 chr3 9837220 9845693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARPC4,ARPC4-TTLL3 chr3 98422613 98455817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ST3GAL6,ST3GAL6-AS1 chr3 98431239 98431318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 98471243 98471369 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ST3GAL6 chr3 98490336 98490368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ST3GAL6 chr3 98494001 98495500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ST3GAL6 chr3 98515201 98515301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCBLD2 chr3 98529269 98700261 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DCBLD2 chr3 9854533 9860700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARPC4-TTLL3,TTLL3 chr3 9854533 9860700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARPC4-TTLL3,TTLL3 chr3 9854534 9860702 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ARPC4-TTLL3,TTLL3 chr3 9854534 9860702 Gain and loss Pancreatic cancer SNP array 17952125 ARPC4-TTLL3,TTLL3 chr3 98589684 98589772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCBLD2 chr3 98607817 98607917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCBLD2 chr3 98621389 98621489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 98636002 98636102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 98667953 98849864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 9867001 10044100 Copy number Normal ReadDepth: A Parallel R Package 21305028 ARPC4-TTLL3,CIDEC,CRELD1,EMC3,IL17RC,IL17RE,JAGN1,PRRT3,PRRT3-AS1,RPUSD3,TTLL3 chr3 98674234 98674334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 98698309 98704967 Loss Normal 244K array 17666407 NOT_FOUND chr3 98699482 98904950 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 98699482 98904950 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr3 98726565 98726743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 98726767 98726928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 98785383 98785477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 98831000 99948725 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 CMSS1,COL8A1,FILIP1L,MIR3921,MIR548G,TMEM30C chr3 9883399 9895740 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RPUSD3 chr3 9883399 9895740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RPUSD3 chr3 9883399 9895740 Gain and loss Pancreatic cancer SNP array 17952125 RPUSD3 chr3 9883399 9895740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RPUSD3 chr3 98873132 98873621 Gain Normal 244K array 17666407 NOT_FOUND chr3 98897039 98991551 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr3 98917807 98918127 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 9892654 9937816 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 CIDEC,JAGN1 chr3 98966285 99000054 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 98966285 99000059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 98966285 99000059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 98966285 99000063 Copy number Autism exome sequencing 22495311 NOT_FOUND chr3 9903711 9933072 Gain and loss Pancreatic cancer SNP array 17952125 CIDEC,JAGN1 chr3 9907272 9911029 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CIDEC chr3 9907272 9911029 Gain and loss Pancreatic cancer SNP array 17952125 CIDEC chr3 9907272 9911029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIDEC chr3 99078509 99146491 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 99078509 99146500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 99078509 99146500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 99079275 99079375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 9911358 9933079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CIDEC,JAGN1 chr3 9911358 9933079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CIDEC,JAGN1 chr3 9911358 9933079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CIDEC,JAGN1 chr3 99143351 99173985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 99143351 99173985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 99146165 99173935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 99151686 99899504 LOH Normal High-resolution SNP genotyping 21211785 CMSS1,COL8A1,FILIP1L,MIR3921,MIR548G chr3 99188217 99188516 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 99188217 99236521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 99188217 99236521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 99194551 99214101 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 99203005 99203105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 99206936 99767433 LOH Normal High-resolution SNP genotyping 21211785 CMSS1,COL8A1,FILIP1L,MIR3921,MIR548G chr3 99247025 99247111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr3 99251857 99839093 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CMSS1,COL8A1,FILIP1L,MIR3921,MIR548G chr3 99251857 99839093 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CMSS1,COL8A1,FILIP1L,MIR3921,MIR548G chr3 9926110 9926210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 99266006 99266930 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr3 99266006 99266930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr3 99288707 99306137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548G chr3 99288707 99306137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548G chr3 99289082 99289567 Gain and loss Pancreatic cancer SNP array 17952125 MIR548G chr3 99334232 99335158 Gain and loss Pancreatic cancer SNP array 17952125 MIR548G chr3 99334232 99335418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548G chr3 99334232 99335418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548G chr3 9933778 9950313 Gain and loss Pancreatic cancer SNP array 17952125 IL17RE,JAGN1 chr3 9933782 9950313 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IL17RE,JAGN1 chr3 9933782 9950313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL17RE,JAGN1 chr3 9933782 9950313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL17RE,JAGN1 chr3 99350920 99352098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548G chr3 99350920 99352098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548G chr3 9935293 10196986 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 BRK1,C3orf24,CIDECP,CRELD1,EMC3,FANCD2,IL17RC,IL17RE,JAGN1,LOC401052,PRRT3,PRRT3-AS1,VHL chr3 9935735 9935837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 JAGN1 chr3 9935735 9935840 Gain and loss Pancreatic cancer SNP array 17952125 JAGN1 chr3 99370181 99402053 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 COL8A1,MIR548G chr3 99370181 99402053 Gain or loss Normal Birdsuite, version 1.5.2 22087296 COL8A1,MIR548G chr3 99370234 99371267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL8A1,MIR548G chr3 99370234 99371267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL8A1,MIR548G chr3 99439608 101168681 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABI3BP,CMSS1,COL8A1,FILIP1L,GPR128,IMPG2,LNP1,MIR3921,MIR548G,NIT2,SENP7,TBC1D23,TFG,TMEM30C,TMEM45A,TOMM70A chr3 99440003 99440815 Gain and loss Pancreatic cancer SNP array 17952125 COL8A1,MIR548G chr3 99440003 99440815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL8A1,MIR548G chr3 9944597 9944657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL17RE chr3 99465819 99466796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL8A1,MIR548G chr3 99465819 99466796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL8A1,MIR548G chr3 99465867 99466796 Gain and loss Pancreatic cancer SNP array 17952125 COL8A1,MIR548G chr3 99484422 99485366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL8A1,MIR548G chr3 99484422 99485366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL8A1,MIR548G chr3 99484437 99485366 Gain and loss Pancreatic cancer SNP array 17952125 COL8A1,MIR548G chr3 9950506 9979367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRELD1,IL17RC,IL17RE chr3 9950506 9979367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CRELD1,IL17RC,IL17RE chr3 9950506 9979367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRELD1,IL17RC,IL17RE chr3 9950524 9961712 Gain and loss Pancreatic cancer SNP array 17952125 IL17RC,IL17RE chr3 99513453 99514377 Gain and loss Pancreatic cancer SNP array 17952125 COL8A1,MIR548G chr3 99555388 99556320 Gain and loss Pancreatic cancer SNP array 17952125 CMSS1,FILIP1L,MIR548G chr3 99555388 99556353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99555388 99556353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99592200 99593165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99592200 99593165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99613175 99613218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMSS1,FILIP1L,MIR548G chr3 9962225 9969078 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 IL17RC chr3 9962226 9969058 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 IL17RC chr3 9962226 9969058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL17RC chr3 9962226 9969058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL17RC chr3 9962226 9969078 Gain and loss Pancreatic cancer SNP array 17952125 IL17RC chr3 9962501 9966500 Copy number Normal ReadDepth: A Parallel R Package 21305028 IL17RC chr3 9966501 10337500 Copy number Normal ReadDepth: A Parallel R Package 21305028 BRK1,C3orf24,CIDECP,CRELD1,EMC3,FANCD2,GHRL,GHRLOS,GHRLOS2,IL17RC,IRAK2,LOC401052,PRRT3,PRRT3-AS1,TATDN2,VHL chr3 99671111 99672058 Gain and loss Pancreatic cancer SNP array 17952125 CMSS1,FILIP1L,MIR548G chr3 99671111 99672062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99671111 99672062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99699215 99700165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99699215 99700165 Gain and loss Pancreatic cancer SNP array 17952125 CMSS1,FILIP1L,MIR548G chr3 99699215 99700165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99717006 99724600 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CMSS1,FILIP1L,MIR548G chr3 99717008 99724600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99717008 99724600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L,MIR548G chr3 99717045 99724459 Gain and loss Pancreatic cancer SNP array 17952125 CMSS1,FILIP1L,MIR548G chr3 99733545 99734684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L chr3 99733545 99734684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L chr3 99733568 99734650 Gain and loss Pancreatic cancer SNP array 17952125 CMSS1,FILIP1L chr3 99733573 99733668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMSS1,FILIP1L chr3 99776708 99776808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMSS1,FILIP1L chr3 99777527 99777627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMSS1,FILIP1L chr3 99780979 99795131 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 CMSS1,FILIP1L chr3 99780982 99795131 Gain and loss Pancreatic cancer SNP array 17952125 CMSS1,FILIP1L chr3 99780982 99795131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMSS1,FILIP1L chr3 99790000 104540000 Deletion Ductal carcinoma SNP array 22052326 ABI3BP,CEP97,CMSS1,FAM172BP,FILIP1L,GPR128,IMPG2,LNP1,LOC100009676,LOC152225,LOC285359,MIR548A3,NFKBIZ,NIT2,NXPE3,PCNP,RPL24,SENP7,TBC1D23,TFG,TMEM30C,TMEM45A,TOMM70A,TRMT10C,ZBTB11,ZPLD1 chr3 99797923 99798023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMSS1,FILIP1L chr3 99800000 101500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABI3BP,CEP97,CMSS1,FAM172BP,FILIP1L,GPR128,IMPG2,LNP1,LOC100009676,LOC285359,NIT2,NXPE3,PCNP,RPL24,SENP7,TBC1D23,TFG,TMEM30C,TMEM45A,TOMM70A,TRMT10C,ZBTB11 chr3 99800000 101500000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 ABI3BP,CEP97,CMSS1,FAM172BP,FILIP1L,GPR128,IMPG2,LNP1,LOC100009676,LOC285359,NIT2,NXPE3,PCNP,RPL24,SENP7,TBC1D23,TFG,TMEM30C,TMEM45A,TOMM70A,TRMT10C,ZBTB11 chr3 99800000 123400000 Gain Breast cancer Array CGH 16608533 ABHD10,ABI3BP,ADCY5,ADPRH,ALCAM,ARGFX,ARHGAP31,ATG3,ATP6V1A,B4GALT4,BBX,BOC,BTLA,C3orf17,C3orf30,C3orf52,CASR,CBLB,CCDC54,CCDC58,CCDC80,CD200,CD200R1,CD200R1L,CD47,CD80,CD86,CD96,CEP97,CMSS1,COX17,CSTA,DIRC2,DPPA2,DPPA4,DRD3,DTX3L,DZIP3,EAF2,FAM162A,FAM172BP,FBXO40,FILIP1L,FLJ22763,FLJ25363,FSTL1,GAP43,GCSAM,GOLGB1,GPR128,GPR156,GRAMD1C,GSK3B,GTF2E1,GTPBP8,GUCA1C,HCLS1,HGD,HHLA2,HSPBAP1,IFT57,IGSF11,IGSF11-AS1,ILDR1,IMPG2,IQCB1,KIAA1407,KIAA1524,KIAA2018,KPNA1,LINC00488,LINC00635,LINC00636,LNP1,LOC100009676,LOC100129550,LOC100302640,LOC152225,LOC285359,LOC344595,LRRC58,LSAMP,LSAMP-AS3,MAATS1,MIR198,MIR4446,MIR4796,MIR548A3,MIR567,MIR568,MORC1,MYH15,MYLK,MYLK-AS1,NAA50,NDUFB4,NFKBIZ,NIT2,NR1I2,NXPE3,PARP14,PARP15,PARP9,PCNP,PDIA5,PHLDB2,PLA1A,PLCXD2,POGLUT1,POLQ,POPDC2,PTPLB,PVRL3,PVRL3-AS1,QTRTD1,RABL3,RETNLB,RPL24,SEC22A,SEMA5B,SENP7,SIDT1,SLC15A2,SLC35A5,SLC9C1,SPICE1,STXBP5L,TAGLN3,TBC1D23,TFG,TIGIT,TIMMDC1,TMEM30C,TMEM39A,TMEM45A,TMPRSS7,TOMM70A,TRAT1,TRMT10C,UPK1B,WDR52,WDR52-AS1,WDR5B,ZBED2,ZBTB11,ZBTB20,ZBTB20-AS1,ZDHHC23,ZNF80,ZPLD1 chr3 9980637 10003524 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CRELD1,PRRT3,PRRT3-AS1 chr3 9980637 10003524 Gain and loss Pancreatic cancer SNP array 17952125 CRELD1,PRRT3,PRRT3-AS1 chr3 9980637 10003524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CRELD1,PRRT3,PRRT3-AS1 chr3 9985854 9985954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CRELD1 chr3 99859071 99863151 Gain and loss Pancreatic cancer SNP array 17952125 CMSS1 chr3 99859251 99862685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CMSS1 chr3 99891901 99899000 Deletion Glioma mate-paired sequence 20126413 CMSS1 chr3 99891968 99892068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CMSS1 chr3 99893514 99897268 Loss or gain Normal 244K array 17666407 CMSS1 chr3 99933842 99996026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D23 chr3 99933842 99996026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D23 chr3 99934029 99996784 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D23 chr3 99934261 99995926 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 TBC1D23 chr3 99934261 99995926 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 TBC1D23 chr3 9997144 9997189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr3 99983855 99984725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D23 chr3 99997503 100103223 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NIT2,TBC1D23,TOMM70A chr3 99997504 100103223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NIT2,TBC1D23,TOMM70A chr3 99997504 100103223 Gain and loss Pancreatic cancer SNP array 17952125 NIT2,TBC1D23,TOMM70A chr3 99997504 100103223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NIT2,TBC1D23,TOMM70A chr4 0 0 Loss Cervical cancer array CGH 21063398 NOT_FOUND chr4 10001049 10012579 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SLC2A9 chr4 10001079 10001178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC2A9 chr4 10001451 10001452 Loss Normal Birdsuite, version 1.5.2 22087296 SLC2A9 chr4 10001452 10009766 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SLC2A9 chr4 10001452 10009766 Loss Normal Birdsuite, version 1.5.2 22087296 SLC2A9 chr4 10001528 10011266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SLC2A9 chr4 10001635 10011313 Copy number loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001635 10011313 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001635 10011313 Total allelic loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001635 10011512 Copy number loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001635 10011596 Copy number loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001635 10011596 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001635 10011596 Total allelic loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001635 10011635 Copy number loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001635 10011800 Copy number loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001821 10011313 Copy number loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001821 10011596 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 10001821 10011596 Total allelic loss Normal High-resolution SNP genotyping 21211785 SLC2A9 chr4 100019085 100019627 Gain and loss Pancreatic cancer SNP array 17952125 LOC100507053 chr4 100020234 100070139 Copy number Lung cancer - 20668451 ADH4,LOC100507053 chr4 100020234 100070139 Gain or loss Breast cancer - 20668451 ADH4,LOC100507053 chr4 100020234 100070139 Gain or loss Cancer - 20668451 ADH4,LOC100507053 chr4 100020234 100070139 Gain or loss Lung cancer - 20668451 ADH4,LOC100507053 chr4 100020234 100070139 Gain or loss Ovarian cancer - 20668451 ADH4,LOC100507053 chr4 100020234 100070139 Gain or loss Pancreas cancer - 20668451 ADH4,LOC100507053 chr4 100020234 100070139 Gain or loss Prostate cancer - 20668451 ADH4,LOC100507053 chr4 100020234 100070139 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ADH4,LOC100507053 chr4 100020236 100069298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADH4,LOC100507053 chr4 100020236 100069298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADH4,LOC100507053 chr4 100032532 100036864 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC100507053 chr4 100032557 100037264 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC100507053 chr4 100043786 100077304 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADH4,LOC100507053 chr4 100045806 100116310 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADH4,LOC100507053,PCNAP1 chr4 100096174 100096948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100507053 chr4 100124552 100124652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADH6,LOC100507053 chr4 100135903 100202976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADH1A,ADH6,LOC100507053 chr4 100135903 100202976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADH1A,ADH6,LOC100507053 chr4 100140847 100711435 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADH1A,ADH1B,ADH1C,ADH7,C4orf17,LOC100507053,MTTP,TRMT10A chr4 100159205 100208966 Gain and loss Pancreatic cancer SNP array 17952125 ADH1A,LOC100507053 chr4 10019968 10222069 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 MIR3138,SLC2A9,WDR1 chr4 100211152 100228954 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 ADH1A,ADH1B,LOC100507053 chr4 100211152 100240090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADH1A,ADH1B,LOC100507053 chr4 100211152 100240090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADH1A,ADH1B,LOC100507053 chr4 100242067 100242400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADH1B chr4 100242866 100243006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100244237 100315207 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ADH1C chr4 100263855 100284472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADH1C chr4 100263855 100284472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADH1C chr4 100274083 100341137 Gain and loss Pancreatic cancer SNP array 17952125 ADH7 chr4 100284152 100284231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100287749 100287822 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 100289312 100289627 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 100307832 100341419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ADH7 chr4 10033026 10064647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC2A9 chr4 100342818 100359426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADH7 chr4 100342818 100359426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADH7 chr4 100349541 100367191 Gain and loss Pancreatic cancer SNP array 17952125 ADH7 chr4 100366370 100366454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100376612 100376806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100376805 100377004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100376817 100376917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100402462 100422626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 100416318 100528007 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 C4orf17,MTTP,TRMT10A chr4 100416547 100431165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100416547 100431165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100429891 100429976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100439909 100439979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C4orf17 chr4 100445157 100461579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf17 chr4 100445157 100461579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf17 chr4 100446549 100461595 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 C4orf17 chr4 100480973 100497581 Gain and loss Pancreatic cancer SNP array 17952125 MTTP,TRMT10A chr4 10050602 10068130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 10050602 10068130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100522181 101714865 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DAPP1,DDIT4L,DNAJB14,EMCN,EMCN-IT3,H2AFZ,LAMTOR3,LOC256880,MTTP chr4 100522181 101991439 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DAPP1,DDIT4L,DNAJB14,EMCN,EMCN-IT3,H2AFZ,LAMTOR3,LOC256880,MTTP,PPP3CA chr4 100552441 100575548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100552441 100575548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100554702 100569320 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 100566080 100566180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100577161 100599736 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 10058712 10086185 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR3138,WDR1 chr4 100613048 100619719 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 100633992 100634092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100651197 100682463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100651197 100682463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100668243 100668343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 10067289 10075662 Loss Normal 244K array 17666407 NOT_FOUND chr4 100686889 100704197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100686889 100704197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100690660 100713668 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 100715022 100763425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DAPP1 chr4 100740689 100740859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAPP1 chr4 100740867 100741064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DAPP1 chr4 100764200 101672469 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DAPP1,DDIT4L,DNAJB14,EMCN,EMCN-IT3,H2AFZ,LAMTOR3,LOC256880 chr4 100789378 100820636 Gain and loss Pancreatic cancer SNP array 17952125 DAPP1,LAMTOR3 chr4 100789501 100794500 Copy number Normal ReadDepth: A Parallel R Package 21305028 DAPP1 chr4 100825065 100842003 Gain and loss Pancreatic cancer SNP array 17952125 DNAJB14 chr4 100853159 100901804 Gain and loss Pancreatic cancer SNP array 17952125 DNAJB14,H2AFZ,LOC256880 chr4 100864374 100864474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DNAJB14 chr4 10087121 10097719 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 WDR1 chr4 100914069 100914169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 100957004 101010367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 100957004 101010367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 10100293 10101101 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 WDR1 chr4 10100424 10295484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WDR1 chr4 10100424 10295484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WDR1 chr4 101015695 101015795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 101021386 101034726 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 101021386 101034726 Gain or loss Cancer - 20668451 NOT_FOUND chr4 101021386 101034726 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 101021386 101034726 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 101021386 101034726 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 101021386 101034726 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 101021386 101034726 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr4 101021394 101034726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 101021394 101034726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 10103358 10103458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR1 chr4 101036258 101036358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 101039591 101086775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 101039591 101086775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 101058053 101058153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 101088265 101090535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 101088265 101090535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 101095168 101148489 Gain and loss Pancreatic cancer SNP array 17952125 DDIT4L chr4 101100000 107700000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 AIMP1,ARHGEF38,ARHGEF38-IT1,BANK1,BDH2,CENPE,CISD2,CXXC4,DDIT4L,EMCN,EMCN-IT3,FLJ20021,GIMD1,GSTCD,INTS12,MANBA,NFKB1,NPNT,PPA2,PPP3CA,SLC39A8,SLC9B1,SLC9B2,TACR3,TBCK,TET2,UBE2D3 chr4 101145470 101145543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 101159549 101172881 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 101177746 101224915 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 10120997 10124059 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 101226420 101228611 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 101270117 101270221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 101296849 101296987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 101297606 101331703 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 EMCN chr4 101326052 101330648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EMCN chr4 101326052 101330648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMCN chr4 101336741 101337360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 EMCN chr4 101415687 104578419 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 BANK1,BDH2,CENPE,CISD2,EMCN,EMCN-IT3,FLJ20021,MANBA,NFKB1,PPP3CA,SLC39A8,SLC9B1,SLC9B2,TACR3,UBE2D3 chr4 101436857 101436957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EMCN chr4 101454746 101454846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 101463870 101464133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 101464207 101468803 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 101538006 101658202 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 EMCN-IT3 chr4 101538009 101658202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EMCN-IT3 chr4 10156477 10156825 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 101608750 101608850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 101609658 101609835 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 10167607 10362655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 101688656 101796249 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 101712397 101712498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1017749 1097596 Gain and loss Pancreatic cancer SNP array 17952125 FGFRL1,RNF212 chr4 101785 10835224 Loss Prostate cancer Array CGH 18632612 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,C4orf48,C4orf6,CCDC96,CLNK,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,FLJ36777,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KIAA0232,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC285484,LOC402160,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MFSD7,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR548I2,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PSAPL1,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF718,ZNF721,ZNF732,ZNF876P chr4 10180844 10357565 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 10180844 10359505 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 10180844 10386781 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 10180844 10407472 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 10180844 10417591 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 101827996 101828096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 10189690 10223589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 101909276 101909396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1019313 1537439 LOH Normal High-resolution SNP genotyping 21211785 CRIPAK,CTBP1,CTBP1-AS1,FGFRL1,LOC100130872,MAEA,RNF212,SPON2,TMED11P,UVSSA chr4 10194830 10194930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 101970958 101971282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP3CA chr4 101982576 102995106 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BANK1,FLJ20021,PPP3CA chr4 102009281 102009353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP3CA chr4 102081682 102081832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP3CA chr4 10215851 10215951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 102163610 102487376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ20021,PPP3CA chr4 102163610 102487376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ20021,PPP3CA chr4 102166704 102166796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPP3CA chr4 102179117 102180114 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 PPP3CA chr4 102179145 102180228 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 PPP3CA chr4 102179177 102180210 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPP3CA chr4 102198890 102443933 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FLJ20021,PPP3CA chr4 10227149 10227578 Loss Normal 244K array 17666407 NOT_FOUND chr4 102290694 102473741 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 102291825 102301288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 102296524 102296887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 102301773 102625531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 102429980 102430279 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 102434679 102435042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 102470482 102470594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 10247916 10248011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 102500000 107900000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 AIMP1,ARHGEF38,ARHGEF38-IT1,BANK1,BDH2,CENPE,CISD2,CXXC4,DKK2,GIMD1,GSTCD,INTS12,MANBA,NFKB1,NPNT,PPA2,SLC39A8,SLC9B1,SLC9B2,TACR3,TBCK,TET2,UBE2D3 chr4 102500000 107900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIMP1,ARHGEF38,ARHGEF38-IT1,BANK1,BDH2,CENPE,CISD2,CXXC4,DKK2,GIMD1,GSTCD,INTS12,MANBA,NFKB1,NPNT,PPA2,SLC39A8,SLC9B1,SLC9B2,TACR3,TBCK,TET2,UBE2D3 chr4 102500000 107900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AIMP1,ARHGEF38,ARHGEF38-IT1,BANK1,BDH2,CENPE,CISD2,CXXC4,DKK2,GIMD1,GSTCD,INTS12,MANBA,NFKB1,NPNT,PPA2,SLC39A8,SLC9B1,SLC9B2,TACR3,TBCK,TET2,UBE2D3 chr4 102500000 107900000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 AIMP1,ARHGEF38,ARHGEF38-IT1,BANK1,BDH2,CENPE,CISD2,CXXC4,DKK2,GIMD1,GSTCD,INTS12,MANBA,NFKB1,NPNT,PPA2,SLC39A8,SLC9B1,SLC9B2,TACR3,TBCK,TET2,UBE2D3 chr4 102500000 107900000 Microdeletions and copy-neutral loss of heterozygosity myeloid cancer Affymetrix GeneChip Human Mapping 250K Array and Genome-Wide Human SNP Array 6.0 21057493 AIMP1,ARHGEF38,ARHGEF38-IT1,BANK1,BDH2,CENPE,CISD2,CXXC4,DKK2,GIMD1,GSTCD,INTS12,MANBA,NFKB1,NPNT,PPA2,SLC39A8,SLC9B1,SLC9B2,TACR3,TBCK,TET2,UBE2D3 chr4 1025501 1040000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 102599217 102599317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 102612396 102612496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 10264713 10264796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 102647553 102857092 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-440K arrays 21546498 BANK1 chr4 102648555 102648655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 102655275 102655375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 102864057 102864160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BANK1 chr4 10288562 10288649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 102930787 103214990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BANK1,SLC39A8 chr4 102930787 103214990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BANK1,SLC39A8 chr4 103002217 103002315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 103002235 103002315 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 103004901 103009300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 103006810 103007373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 103019877 103366118 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SLC39A8 chr4 103050308 103256273 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SLC39A8 chr4 103068100 103068148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 103069074 103353073 Gain and loss Pancreatic cancer SNP array 17952125 SLC39A8 chr4 103072042 103072142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 10309946 10310055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 103110953 103111028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 103133124 103133357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 103171889 103608433 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MANBA,NFKB1,SLC39A8 chr4 103171889 103859950 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CISD2,MANBA,NFKB1,SLC39A8,SLC9B1,UBE2D3 chr4 103211865 103211960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC39A8 chr4 103222753 103255920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC39A8 chr4 10323471 10323571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 103265985 103282451 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SLC39A8 chr4 103318106 103352093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 103339764 103340008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 103401844 103485654 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NFKB1 chr4 103401844 103485654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NFKB1 chr4 103401844 103485654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFKB1 chr4 103423710 103423820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFKB1 chr4 103432628 103436858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NFKB1 chr4 103488572 103488871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NFKB1 chr4 103539999 103623809 Gain and loss Pancreatic cancer SNP array 17952125 MANBA chr4 103546601 103552700 Deletion Glioma mate-paired sequence 20126413 MANBA chr4 103550364 103550863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 103550408 103550913 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 103597890 103859950 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CISD2,MANBA,SLC9B1,UBE2D3 chr4 103626727 103627026 Gain and loss Pancreatic cancer SNP array 17952125 MANBA chr4 103641517 103757507 Gain or loss Breast cancer - 20668451 MANBA,UBE2D3 chr4 103641517 103757507 Gain or loss Cancer - 20668451 MANBA,UBE2D3 chr4 103641517 103757507 Gain or loss Lung cancer - 20668451 MANBA,UBE2D3 chr4 103641517 103757507 Gain or loss Ovarian cancer - 20668451 MANBA,UBE2D3 chr4 103641517 103757507 Gain or loss Pancreas cancer - 20668451 MANBA,UBE2D3 chr4 103641517 103757507 Gain or loss Prostate cancer - 20668451 MANBA,UBE2D3 chr4 103641518 103757506 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 MANBA,UBE2D3 chr4 103641518 103757506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MANBA,UBE2D3 chr4 103641518 103757506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MANBA,UBE2D3 chr4 103749369 103749830 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 UBE2D3 chr4 103771691 103901196 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CISD2,SLC9B1,UBE2D3 chr4 103771691 103901196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CISD2,SLC9B1,UBE2D3 chr4 103771691 103901196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CISD2,SLC9B1,UBE2D3 chr4 103776390 103808006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CISD2,SLC9B1,UBE2D3 chr4 103779673 103895661 Gain and loss Pancreatic cancer SNP array 17952125 CISD2,SLC9B1,UBE2D3 chr4 103868971 103869761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC9B1 chr4 103872762 105162401 LOH Normal High-resolution SNP genotyping 21211785 BDH2,CENPE,SLC9B1,SLC9B2,TACR3 chr4 103909851 104039341 Gain and loss Pancreatic cancer SNP array 17952125 BDH2,CENPE,SLC9B1,SLC9B2 chr4 103926287 103947627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC9B1,SLC9B2 chr4 103936217 104009473 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BDH2,SLC9B1,SLC9B2 chr4 103936217 104009473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BDH2,SLC9B1,SLC9B2 chr4 103936217 104009473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BDH2,SLC9B1,SLC9B2 chr4 103996707 103996807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC9B2 chr4 103999651 103999753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BDH2 chr4 1040001 1148000 Copy number Normal ReadDepth: A Parallel R Package 21305028 RNF212,TMED11P chr4 104002287 104002387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BDH2 chr4 104004615 104004961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 BDH2 chr4 104007126 104008182 Gain and loss Pancreatic cancer SNP array 17952125 BDH2 chr4 104009639 104029833 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 BDH2,CENPE chr4 104009649 104029160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 BDH2,CENPE chr4 104009649 104029160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 BDH2,CENPE chr4 104012713 104012970 Gain and loss Pancreatic cancer SNP array 17952125 BDH2 chr4 104025825 104160325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 CENPE chr4 104025825 104160325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CENPE chr4 104025825 104160325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CENPE chr4 104031400 104031829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CENPE chr4 104074373 104147628 Gain and loss Pancreatic cancer SNP array 17952125 CENPE chr4 104103745 104103835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CENPE chr4 104137806 104137908 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 104137960 104300049 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 104137960 104414925 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 104147794 104167988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 104160807 104217379 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 104160807 104217379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 104160807 104217379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 104163796 104298480 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 104176579 104177002 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 104182979 105137382 LOH Normal High-resolution SNP genotyping 21211785 TACR3 chr4 104215199 105137382 LOH Normal High-resolution SNP genotyping 21211785 TACR3 chr4 104218232 104240473 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 104218232 104240473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 104218232 104240473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 104226633 104226694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 104234642 104234942 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 104234697 104235697 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 104243155 104244155 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 104246412 104339015 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 104246412 104339015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 104246412 104339015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 104269876 104269952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 104282172 104313724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 104285651 121561197 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AGXT2L1,AIMP1,ALPK1,ANK2,AP1AR,ARHGEF38,ARHGEF38-IT1,ARSJ,C4orf21,C4orf3,C4orf32,CAMK2D,CASP6,CCDC109B,CEP170P1,CFI,COL25A1,CXXC4,CYP2U1,DKK2,EGF,ELOVL6,ENPEP,FABP2,FLJ14186,GAR1,GIMD1,GSTCD,HADH,INTS12,LARP7,LEF1,LEF1-AS1,LOC645513,LRIT3,MAD2L1,METTL14,MIR1243,MIR1973,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,MIR577,MYOZ2,NDST3,NDST4,NEUROG2,NPNT,OSTC,PAPSS1,PDE5A,PITX2,PLA2G12A,PPA2,PRSS12,RPL34,RPL34-AS1,RRH,SEC24B,SEC24B-AS1,SEC24D,SGMS2,SNHG8,SNORA24,SYNPO2,TACR3,TBCK,TET2,TIFA,TRAM1L1,UGT8,USP53 chr4 104298993 104355534 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 104314164 104337731 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 104358194 104378621 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 104384983 104477080 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 104409926 104467371 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 104420468 104467383 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 104432429 104936781 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TACR3 chr4 104432429 107239173 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AIMP1,ARHGEF38,ARHGEF38-IT1,CXXC4,GSTCD,INTS12,NPNT,PPA2,TACR3,TBCK,TET2 chr4 104437636 105052214 LOH Normal High-resolution SNP genotyping 21211785 TACR3 chr4 104454472 104454550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1044654 1045386 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 NOT_FOUND chr4 1044955 1045386 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 104500000 109400000 Copy number Cognitive impairment - 21505072 AIMP1,ARHGEF38,ARHGEF38-IT1,CXXC4,CYP2U1,DKK2,GIMD1,GSTCD,HADH,INTS12,LEF1,LEF1-AS1,NPNT,PAPSS1,PPA2,SGMS2,TACR3,TBCK,TET2 chr4 104528044 104639373 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 TACR3 chr4 104530000 109380000 Copy number Cognitive impairment - 21505072 AIMP1,ARHGEF38,ARHGEF38-IT1,CXXC4,CYP2U1,DKK2,GIMD1,GSTCD,HADH,INTS12,LEF1,LEF1-AS1,NPNT,PAPSS1,PPA2,SGMS2,TACR3,TBCK,TET2 chr4 104537529 104699999 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 TACR3 chr4 104562706 104562802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TACR3 chr4 104577431 104577531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TACR3 chr4 104597471 105963188 LOH Normal High-resolution SNP genotyping 21211785 CXXC4,TACR3 chr4 104621528 104621587 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 TACR3 chr4 104642241 104642341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 104673691 104673776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 104691467 104691567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 104694792 104700062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 104730073 104860422 Copy number Lung cancer - 20668451 NOT_FOUND chr4 104730073 104860422 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 104730073 104860422 Gain or loss Cancer - 20668451 NOT_FOUND chr4 104730073 104860422 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 104730073 104860422 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 104730073 104860422 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 104730073 104860422 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 104730074 104860422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 104730074 104860422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 104744613 104744769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 104763051 104764927 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 104781886 104781966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 104785175 104829821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 104834385 104834485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 104834816 104835005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 104848417 104972885 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 NOT_FOUND chr4 104868229 104998577 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 104895505 104895600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105013855 105013955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105045356 105165560 Gain aortic dissecting aneurysms Array-CGH 22263138 NOT_FOUND chr4 105045356 105165560 Gain Stenocardia MACArray Karyo 23K BAC-chips 21860640 NOT_FOUND chr4 105045356 105165560 Gain Vasospasm MACArray Karyo 23K BAC-chips 21860640 NOT_FOUND chr4 105061232 105061332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105111401 105116100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 105113496 105114126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 105224402 105224502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 10525692 11808980 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 CLNK,HS3ST1,MIR572 chr4 105259226 105280007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 10528226 10559817 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 CLNK chr4 105313138 107941406 Deletion Acute myeloid leukemia - 21251322 AIMP1,ARHGEF38,ARHGEF38-IT1,CXXC4,DKK2,GIMD1,GSTCD,INTS12,NPNT,PPA2,TBCK,TET2 chr4 105357523 105357613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105365767 105366033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 105436104 106140201 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 TET2 chr4 105466565 105466744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105492140 106515481 LOH Normal High-resolution SNP genotyping 21211785 ARHGEF38,ARHGEF38-IT1,PPA2,TET2 chr4 105526475 105526570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1055269 1097350 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF212 chr4 1055269 1097350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF212 chr4 1055269 1097350 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 RNF212 chr4 1055269 1097350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF212 chr4 105596932 105597129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105597119 105597276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105608912 105635500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 105608912 105635500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 105617457 105617545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105631482 105631560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 105652371 105653371 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 105652481 105653481 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 105662342 105663342 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 1056634 1097148 Gain and loss Pancreatic cancer SNP array 17952125 RNF212 chr4 10567041 10567100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLNK chr4 105686566 105686650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105693030 105710301 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 105693030 105710713 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 105696381 105710301 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 105696487 105697487 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 105700611 105701611 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 105715852 105715952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105722302 105722513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 105739492 105740492 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 105747170 105773655 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 105757129 105757224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105864226 105864326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105899024 105899122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 105929656 105964711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 105957018 105958018 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 105957165 105958165 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 105967833 105968833 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 105971316 105971501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 105989704 105989799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 106027102 106027201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 106067942 106200958 Deletion Myelomonocytic leukemia References 20595094 TET2 chr4 106100000 106720000 Loss Acute lymphoblastic leukemia - 21339820 ARHGEF38,ARHGEF38-IT1,GSTCD,INTS12,PPA2,TET2 chr4 106115286 106115371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TET2 chr4 106137323 106137423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TET2 chr4 106154584 106154684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TET2 chr4 106174798 106174859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TET2 chr4 106197097 106198097 Gain Chronic lymphocytic leukemia References 21215367 TET2 chr4 106199979 106200279 Gain Chronic lymphocytic leukemia References 21215367 TET2 chr4 106201375 106201675 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 106201407 106202407 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 106253441 106253526 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 106260688 106844712 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGEF38,ARHGEF38-IT1,GSTCD,INTS12,NPNT,PPA2 chr4 106286481 106419126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PPA2 chr4 106286481 106419126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PPA2 chr4 10632678 10632895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLNK chr4 106329169 106329233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPA2 chr4 106342562 106342652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPA2 chr4 106363964 106364114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPA2 chr4 106368100 106368201 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PPA2 chr4 106368308 107723563 LOH Normal High-resolution SNP genotyping 21211785 AIMP1,ARHGEF38,ARHGEF38-IT1,GIMD1,GSTCD,INTS12,NPNT,PPA2,TBCK chr4 106389995 106390095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPA2 chr4 106390455 106390555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPA2 chr4 106424636 106521532 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF38,ARHGEF38-IT1 chr4 106434263 106434544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 106454334 106454392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1064562 1064661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 106457358 106457629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 106484419 106484513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF38,ARHGEF38-IT1 chr4 10650605 10651757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CLNK chr4 106507249 106507399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF38 chr4 106509682 106614676 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ARHGEF38,INTS12 chr4 106509684 106614676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF38,INTS12 chr4 106509684 106614676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF38,INTS12 chr4 106536867 106564812 Gain Autism 1M Ailent CGH whole-genome array 21865298 ARHGEF38 chr4 106540519 106558562 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF38 chr4 1065437 56105257 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHIC2,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DANCR,DCAF16,DCAF4L1,DCUN1D4,DEFB131,DHX15,DOK7,DRD5,DTHD1,ERVMER34-1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FIP1L1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GSX2,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA1239,KIT,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LNX1,LNX1-AS1,LNX1-AS2,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152578,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LRRC66,LYAR,MAEA,MAN2B2,MED28,MFSD10,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4449,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PDGFRA,PDS5A,PGM2,PHOX2B,PI4K2B,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RASL11B,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL21P44,RPL9,S100P,SCARNA22,SCFD2,SEL1L3,SEPSECS,SGCB,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SNORA26,SOD3,SORCS2,SPATA18,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,USP46,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF518B chr4 106547588 106547698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGEF38 chr4 106550788 106550888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGEF38 chr4 106572418 106572699 Gain and loss Pancreatic cancer SNP array 17952125 ARHGEF38 chr4 106589529 106589866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ARHGEF38 chr4 106625311 106626956 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 INTS12 chr4 106625360 106625447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INTS12 chr4 106625603 106625703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INTS12 chr4 106647839 106752829 Gain and loss Pancreatic cancer SNP array 17952125 GSTCD chr4 106667289 106668003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSTCD chr4 106685758 106685850 Gain and loss Pancreatic cancer SNP array 17952125 GSTCD chr4 106685764 106685850 Gain and loss Pancreatic cancer SNP array 17952125 GSTCD chr4 106693226 106772285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GSTCD chr4 106693226 106772285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GSTCD chr4 106702556 108923612 LOH Normal High-resolution SNP genotyping 21211785 AIMP1,CYP2U1,DKK2,GIMD1,GSTCD,HADH,NPNT,PAPSS1,SGMS2,TBCK chr4 106744531 106744630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GSTCD chr4 10677356 10677456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CLNK chr4 106805358 106806158 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 106823233 106849714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPNT chr4 106823233 106849714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPNT chr4 106831381 106910440 Gain and loss Pancreatic cancer SNP array 17952125 NPNT chr4 106849390 106988331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPNT,TBCK chr4 106849390 106988331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPNT,TBCK chr4 106892012 107857464 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AIMP1,DKK2,GIMD1,NPNT,TBCK chr4 106932069 107477550 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-455K arrays 21546498 AIMP1,GIMD1,TBCK chr4 106937958 106959674 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 106959998 106960098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 106961395 106978777 Gain and loss Pancreatic cancer SNP array 17952125 TBCK chr4 106987548 107124510 Gain and loss Pancreatic cancer SNP array 17952125 TBCK chr4 107036054 107112273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBCK chr4 107036054 107112273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBCK chr4 107091757 107091857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBCK chr4 10709333 10865980 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 107159681 107164961 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 TBCK chr4 107159681 107164961 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 TBCK chr4 107159917 107162714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TBCK chr4 107162376 107165884 Gain or loss Normal Birdsuite, version 1.5.2 22087296 TBCK chr4 107174212 107250431 Gain and loss Pancreatic cancer SNP array 17952125 AIMP1,TBCK chr4 107178554 107178663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBCK chr4 107186689 107457244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 AIMP1,GIMD1,TBCK chr4 107186689 107457244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 AIMP1,GIMD1,TBCK chr4 107216936 107217936 Loss Cancer Human 24 color M-FISH 21215367 TBCK chr4 107216936 107217936 Loss Chronic lymphocytic leukemia References 21215367 TBCK chr4 107217311 107217611 Loss Chronic lymphocytic leukemia References 21215367 TBCK chr4 107217807 107218807 Gain Chronic lymphocytic leukemia References 21215367 TBCK chr4 107220534 107220834 Gain Chronic lymphocytic leukemia References 21215367 TBCK chr4 10722323 10722423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 107243297 107244297 Loss Chronic lymphocytic leukemia References 21215367 AIMP1 chr4 107243349 107244349 Gain Chronic lymphocytic leukemia References 21215367 AIMP1 chr4 107274201 107284600 Deletion Glioma mate-paired sequence 20126413 GIMD1 chr4 107275916 107283119 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GIMD1 chr4 107275979 107282771 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GIMD1 chr4 107276028 107282809 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GIMD1 chr4 10729852 10755453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 107324844 107595399 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 107344097 107344166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 107383876 107383976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 107395427 107436080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 107407716 107440273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 107456302 107489831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 107456302 107489831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 10747487 10768827 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 107511636 107511736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 107550929 107551029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 107556312 107556391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 107594457 107627252 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 107610913 107611013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 107626849 107626929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 107657088 107657870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1076778 1076827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF212 chr4 107696089 107696189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 107700000 114100000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 AGXT2L1,ALPK1,ANK2,AP1AR,C4orf21,C4orf32,CASP6,CCDC109B,CFI,COL25A1,CYP2U1,DKK2,EGF,ELOVL6,ENPEP,GAR1,HADH,LARP7,LEF1,LEF1-AS1,LRIT3,MIR1243,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,NEUROG2,OSTC,PAPSS1,PITX2,PLA2G12A,RPL34,RPL34-AS1,RRH,SEC24B,SEC24B-AS1,SGMS2,TIFA chr4 107700000 114100000 Gain Glioma CGH 17588166 AGXT2L1,ALPK1,ANK2,AP1AR,C4orf21,C4orf32,CASP6,CCDC109B,CFI,COL25A1,CYP2U1,DKK2,EGF,ELOVL6,ENPEP,GAR1,HADH,LARP7,LEF1,LEF1-AS1,LRIT3,MIR1243,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,NEUROG2,OSTC,PAPSS1,PITX2,PLA2G12A,RPL34,RPL34-AS1,RRH,SEC24B,SEC24B-AS1,SGMS2,TIFA chr4 107700000 139500000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ADAD1,AGXT2L1,ALPK1,ANK2,ANKRD50,ANXA5,AP1AR,ARSJ,BBS12,BBS7,C4orf21,C4orf29,C4orf3,C4orf32,C4orf33,CAMK2D,CASP6,CCDC109B,CCNA2,CEP170P1,CETN4P,CFI,COL25A1,CYP2U1,DKK2,EGF,ELOVL6,ENPEP,EXOSC9,FABP2,FAT4,FGF2,FLJ14186,GAR1,HADH,HSPA4L,IL2,IL21,INTU,KIAA1109,LARP1B,LARP7,LEF1,LEF1-AS1,LINC00499,LINC00616,LOC285419,LOC645513,LRIT3,MAD2L1,METTL14,MFSD8,MIR1243,MIR1973,MIR2054,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,MIR577,MYOZ2,NDNF,NDST3,NDST4,NEUROG2,NUDT6,OSTC,PABPC4L,PAPSS1,PCDH10,PCDH18,PDE5A,PGRMC2,PHF17,PITX2,PLA2G12A,PLK4,PP12613,PRDM5,PRSS12,QRFPR,RPL34,RPL34-AS1,RRH,SCLT1,SEC24B,SEC24B-AS1,SEC24D,SGMS2,SLC25A31,SLC7A11,SLC7A11-AS1,SNHG8,SNORA24,SPATA5,SPRY1,SYNPO2,TIFA,TMEM155,TNIP3,TRAM1L1,TRPC3,UGT8,USP53 chr4 1077601 1081600 Deletion Glioma mate-paired sequence 20126413 RNF212 chr4 107823695 107828683 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 107823745 107828707 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 107823746 107828702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 107823784 107828236 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr4 107870423 107870523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKK2 chr4 107900000 114100000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 AGXT2L1,ALPK1,ANK2,AP1AR,C4orf21,C4orf32,CASP6,CCDC109B,CFI,COL25A1,CYP2U1,DKK2,EGF,ELOVL6,ENPEP,GAR1,HADH,LARP7,LEF1,LEF1-AS1,LRIT3,MIR1243,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,NEUROG2,OSTC,PAPSS1,PITX2,PLA2G12A,RPL34,RPL34-AS1,RRH,SEC24B,SEC24B-AS1,SGMS2,TIFA chr4 107900000 114100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGXT2L1,ALPK1,ANK2,AP1AR,C4orf21,C4orf32,CASP6,CCDC109B,CFI,COL25A1,CYP2U1,DKK2,EGF,ELOVL6,ENPEP,GAR1,HADH,LARP7,LEF1,LEF1-AS1,LRIT3,MIR1243,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,NEUROG2,OSTC,PAPSS1,PITX2,PLA2G12A,RPL34,RPL34-AS1,RRH,SEC24B,SEC24B-AS1,SGMS2,TIFA chr4 107900000 114100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGXT2L1,ALPK1,ANK2,AP1AR,C4orf21,C4orf32,CASP6,CCDC109B,CFI,COL25A1,CYP2U1,DKK2,EGF,ELOVL6,ENPEP,GAR1,HADH,LARP7,LEF1,LEF1-AS1,LRIT3,MIR1243,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,NEUROG2,OSTC,PAPSS1,PITX2,PLA2G12A,RPL34,RPL34-AS1,RRH,SEC24B,SEC24B-AS1,SGMS2,TIFA chr4 107900000 191273063 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 AADAT,ABCE1,ACSL1,ADAD1,ADAM29,AGA,AGXT2L1,ALPK1,ANAPC10,ANK2,ANKRD37,ANKRD50,ANP32C,ANXA10,ANXA2P1,ANXA5,AP1AR,ARFIP1,ARHGAP10,ARSJ,ASB5,ASIC5,BBS12,BBS7,C4orf21,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf45,C4orf46,C4orf47,C4orf51,CAMK2D,CASP3,CASP6,CBR4,CCDC109B,CCDC110,CCDC111,CCNA2,CCRN4L,CDKN2AIP,CEP170P1,CEP44,CETN4P,CFI,CLCN3,CLDN22,CLDN24,CLGN,COL25A1,CPE,CTSO,CYP2U1,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DKK2,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,ELF2,ELMOD2,ELOVL6,ENPEP,ENPP6,ETFDH,EXOSC9,F11,FABP2,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FAT4,FBXO8,FBXW7,FGA,FGB,FGF2,FGG,FHDC1,FLJ14186,FLJ38576,FNIP2,FREM3,FRG1,FRG2,FSTL5,GAB1,GALNT7,GALNTL6,GAR1,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HADH,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,HSPA4L,IL15,IL2,IL21,ING2,INPP4B,INTU,IRF2,KIAA0922,KIAA1109,KIAA1430,KLHL2,KLKB1,LARP1B,LARP7,LEF1,LEF1-AS1,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285419,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC645513,LOC728175,LOC731424,LRAT,LRBA,LRIT3,LRP2BP,LSM6,MAB21L2,MAD2L1,MAML3,MAP9,MARCH1,METTL14,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR302A,MIR302B,MIR302C,MIR302D,MIR3140,MIR367,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR577,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,MYOZ2,NAA15,NAF1,NBLA00301,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NPY1R,NPY2R,NPY5R,NR3C2,NUDT6,ODZ3,OSTC,OTUD4,PABPC4L,PALLD,PAPSS1,PCDH10,PCDH18,PDE5A,PDGFC,PDLIM3,PET112,PGRMC2,PHF17,PITX2,PLA2G12A,PLK4,PLRG1,POU4F2,PP12613,PPID,PRDM5,PRMT10,PRSS12,PRSS48,QRFPR,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPL34,RPL34-AS1,RPS3A,RRH,RWDD4,RXFP1,SAP30,SCLT1,SCOC,SCRG1,SEC24B,SEC24B-AS1,SEC24D,SETD7,SFRP2,SGMS2,SH3D19,SH3RF1,SLC10A7,SLC25A31,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNHG8,SNORA24,SNORD73A,SNX25,SORBS2,SPATA4,SPATA5,SPCS3,SPOCK3,SPRY1,STOX2,SYNPO2,TBC1D9,TDO2,TIFA,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM155,TMEM184C,TMEM192,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRPC3,TTC29,UCP1,UFSP2,UGT8,USP38,USP53,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 107900000 191273063 Loss Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 AADAT,ABCE1,ACSL1,ADAD1,ADAM29,AGA,AGXT2L1,ALPK1,ANAPC10,ANK2,ANKRD37,ANKRD50,ANP32C,ANXA10,ANXA2P1,ANXA5,AP1AR,ARFIP1,ARHGAP10,ARSJ,ASB5,ASIC5,BBS12,BBS7,C4orf21,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf45,C4orf46,C4orf47,C4orf51,CAMK2D,CASP3,CASP6,CBR4,CCDC109B,CCDC110,CCDC111,CCNA2,CCRN4L,CDKN2AIP,CEP170P1,CEP44,CETN4P,CFI,CLCN3,CLDN22,CLDN24,CLGN,COL25A1,CPE,CTSO,CYP2U1,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DKK2,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,ELF2,ELMOD2,ELOVL6,ENPEP,ENPP6,ETFDH,EXOSC9,F11,FABP2,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FAT4,FBXO8,FBXW7,FGA,FGB,FGF2,FGG,FHDC1,FLJ14186,FLJ38576,FNIP2,FREM3,FRG1,FRG2,FSTL5,GAB1,GALNT7,GALNTL6,GAR1,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HADH,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,HSPA4L,IL15,IL2,IL21,ING2,INPP4B,INTU,IRF2,KIAA0922,KIAA1109,KIAA1430,KLHL2,KLKB1,LARP1B,LARP7,LEF1,LEF1-AS1,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285419,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC645513,LOC728175,LOC731424,LRAT,LRBA,LRIT3,LRP2BP,LSM6,MAB21L2,MAD2L1,MAML3,MAP9,MARCH1,METTL14,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR302A,MIR302B,MIR302C,MIR302D,MIR3140,MIR367,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR577,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,MYOZ2,NAA15,NAF1,NBLA00301,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NPY1R,NPY2R,NPY5R,NR3C2,NUDT6,ODZ3,OSTC,OTUD4,PABPC4L,PALLD,PAPSS1,PCDH10,PCDH18,PDE5A,PDGFC,PDLIM3,PET112,PGRMC2,PHF17,PITX2,PLA2G12A,PLK4,PLRG1,POU4F2,PP12613,PPID,PRDM5,PRMT10,PRSS12,PRSS48,QRFPR,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPL34,RPL34-AS1,RPS3A,RRH,RWDD4,RXFP1,SAP30,SCLT1,SCOC,SCRG1,SEC24B,SEC24B-AS1,SEC24D,SETD7,SFRP2,SGMS2,SH3D19,SH3RF1,SLC10A7,SLC25A31,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNHG8,SNORA24,SNORD73A,SNX25,SORBS2,SPATA4,SPATA5,SPCS3,SPOCK3,SPRY1,STOX2,SYNPO2,TBC1D9,TDO2,TIFA,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM155,TMEM184C,TMEM192,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRPC3,TTC29,UCP1,UFSP2,UGT8,USP38,USP53,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 107906381 107906481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DKK2 chr4 107957561 107970985 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 107997808 108042474 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 108007424 108007500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108047230 108047330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108060072 108060416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 108062407 108176902 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 108062407 108176902 Gain or loss Cancer - 20668451 NOT_FOUND chr4 108062407 108176902 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 108062407 108176902 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 108062407 108176902 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 108062407 108176902 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 108062418 108176903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 108062418 108176903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 108066404 109130669 Gain Autism Exome sequencing and CGH 22495309 CYP2U1,HADH,LEF1,LEF1-AS1,PAPSS1,SGMS2 chr4 108143825 108144132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 108144138 108144383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 108183198 108213734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 108191344 108849244 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-471K arrays 21546498 PAPSS1,SGMS2 chr4 108193780 108193936 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr4 108200565 108315058 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 108281980 108282287 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 108282293 108282538 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 108285188 108293270 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 NOT_FOUND chr4 108285200 108294716 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 108285200 108294716 Loss,gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 108289322 109892208 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGXT2L1,COL25A1,CYP2U1,HADH,LEF1,LEF1-AS1,OSTC,PAPSS1,RPL34,RPL34-AS1,SGMS2 chr4 108297529 108297614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108306171 108306271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108312955 108313055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108320899 108320988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108343955 108344530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 108345201 108353100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 108347257 108351184 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 108347258 108351163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 108409978 108410078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108452903 108496021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 108465999 108466099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108469928 108470028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108471665 108509774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 108471851 108471951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108482110 108482685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 108484915 108485015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108494401 108500700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 108496146 108498953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 108522273 108522373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108552721 108553144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PAPSS1 chr4 108575724 108575820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PAPSS1 chr4 108713879 108713975 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 108720251 108720325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108727056 108727156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 108731204 108733947 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 108754272 108860868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP2U1,SGMS2 chr4 108754272 108860868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP2U1,SGMS2 chr4 108834104 108836188 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 SGMS2 chr4 108866894 108911649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CYP2U1,HADH chr4 108892427 108999023 Gain and loss Pancreatic cancer SNP array 17952125 HADH,LEF1 chr4 108965168 109051558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LEF1 chr4 108965168 109051558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEF1 chr4 108977919 112697619 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGXT2L1,CASP6,CCDC109B,CFI,COL25A1,EGF,ELOVL6,ENPEP,GAR1,LEF1,LEF1-AS1,LRIT3,OSTC,PITX2,PLA2G12A,RPL34,RPL34-AS1,RRH,SEC24B,SEC24B-AS1 chr4 108993570 108993670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEF1 chr4 10900000 15300000 Copy number Normal - 21701786 BOD1L1,CPEB2,HS3ST1,HSP90AB2P,LOC152742,LOC285547,LOC285548,LOC441009,MIR5091,MIR572,NKX3-2,RAB28 chr4 10900000 15300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 BOD1L1,CPEB2,HS3ST1,HSP90AB2P,LOC152742,LOC285547,LOC285548,LOC441009,MIR5091,MIR572,NKX3-2,RAB28 chr4 10900000 191273063 Copy number Small bowel adenocarcinoma BAC arrays and 30K oligonucleotide arrays 21586687 AADAT,AASDH,ABCE1,ABCG2,ACSL1,ADAD1,ADAM29,ADAMTS3,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf51,C4orf52,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPRIN3,GRIA2,GRID2,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HELQ,HELT,HERC3,HERC5,HERC6,HHIP,HHIP-AS1,HMGB2,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,IBSP,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100144602,LOC100288255,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC728040,LOC728175,LOC731424,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRRC66,LSM6,MAB21L2,MAD2L1,MAML3,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR3945,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4799,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRPL1,MRPS18C,MSMO1,MTHFD2L,MTNR1A,MTTP,MUC7,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCNAP1,PDCL2,PDE5A,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RHOH,RNF150,RNF175,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,SAP30,SCARB2,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3D19,SH3RF1,SHISA3,SHROOM3,SLAIN2,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STOX2,STPG2,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACR3,TAPT1,TBC1D1,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP38,USP46,USP53,UTP3,VEGFC,WDFY3,WDFY3-AS2,WDR17,WDR19,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZCCHC4,ZFP42,ZNF330,ZNF827 chr4 10900000 191273063 Loss Gastric cancer - 21586687 AADAT,AASDH,ABCE1,ABCG2,ACSL1,ADAD1,ADAM29,ADAMTS3,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf51,C4orf52,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPRIN3,GRIA2,GRID2,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HELQ,HELT,HERC3,HERC5,HERC6,HHIP,HHIP-AS1,HMGB2,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,IBSP,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100144602,LOC100288255,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC728040,LOC728175,LOC731424,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRRC66,LSM6,MAB21L2,MAD2L1,MAML3,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR3945,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4799,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRPL1,MRPS18C,MSMO1,MTHFD2L,MTNR1A,MTTP,MUC7,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCNAP1,PDCL2,PDE5A,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RHOH,RNF150,RNF175,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,SAP30,SCARB2,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3D19,SH3RF1,SHISA3,SHROOM3,SLAIN2,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STOX2,STPG2,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACR3,TAPT1,TBC1D1,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP38,USP46,USP53,UTP3,VEGFC,WDFY3,WDFY3-AS2,WDR17,WDR19,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZCCHC4,ZFP42,ZNF330,ZNF827 chr4 10900000 23100000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 BOD1L1,BST1,C1QTNF7,CC2D2A,CD38,CLRN2,CPEB2,DCAF16,FAM184B,FAM200B,FBXL5,FGFBP1,FGFBP2,FLJ39653,GBA3,GPR125,HS3ST1,HSP90AB2P,KCNIP4,KCNIP4-IT1,LAP3,LCORL,LDB2,LOC100505912,LOC152742,LOC285547,LOC285548,LOC441009,MED28,MIR218-1,MIR5091,MIR548AX,MIR572,NCAPG,NKX3-2,PACRGL,PROM1,QDPR,RAB28,SLIT2,SLIT2-IT1,TAPT1 chr4 10900000 23100000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 BOD1L1,BST1,C1QTNF7,CC2D2A,CD38,CLRN2,CPEB2,DCAF16,FAM184B,FAM200B,FBXL5,FGFBP1,FGFBP2,FLJ39653,GBA3,GPR125,HS3ST1,HSP90AB2P,KCNIP4,KCNIP4-IT1,LAP3,LCORL,LDB2,LOC100505912,LOC152742,LOC285547,LOC285548,LOC441009,MED28,MIR218-1,MIR5091,MIR548AX,MIR572,NCAPG,NKX3-2,PACRGL,PROM1,QDPR,RAB28,SLIT2,SLIT2-IT1,TAPT1 chr4 10900000 35500000 Loss Cancer array-based techniques 21183584 ANAPC4,BOD1L1,BST1,C1QTNF7,C4orf52,CC2D2A,CCDC149,CCKAR,CD38,CLRN2,CPEB2,DCAF16,DHX15,FAM184B,FAM200B,FBXL5,FGFBP1,FGFBP2,FLJ39653,GBA3,GPR125,HS3ST1,HSP90AB2P,KCNIP4,KCNIP4-IT1,LAP3,LCORL,LDB2,LGI2,LOC100505912,LOC152742,LOC285540,LOC285547,LOC285548,LOC441009,MED28,MIR218-1,MIR4275,MIR5091,MIR548AJ2,MIR548AX,MIR572,MIR573,NCAPG,NKX3-2,PACRGL,PCDH7,PI4K2B,PPARGC1A,PROM1,QDPR,RAB28,RBPJ,SEL1L3,SEPSECS,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TAPT1,TBC1D19,ZCCHC4 chr4 109008412 109008515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEF1 chr4 109008416 109008515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEF1 chr4 109057702 109057798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LEF1 chr4 109072166 109094060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LEF1,LEF1-AS1 chr4 109072166 109094060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LEF1,LEF1-AS1 chr4 109103422 109193794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 109130319 109175780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 109130319 109175780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 109146571 109146670 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 109188149 109309027 Deletion Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 NOT_FOUND chr4 109188149 109309027 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 109188149 109309027 Gain or loss Cancer - 20668451 NOT_FOUND chr4 109188149 109309027 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 109188149 109309027 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 109188149 109309027 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 109188149 109309027 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 109188149 109309027 Microdeletion Cytochrome P450 oxidoreductase deficiency FISH and RT-PCR sequencing analyses 19258400 NOT_FOUND chr4 109188149 109309027 Microdeletion T-cell acute lymphoblastic leukemia array CGH 20124220 NOT_FOUND chr4 109188150 109309027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 109188150 109309027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 109189703 109220606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 109199454 109303722 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr4 109210345 109231027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 109236560 109236628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 109248266 109304284 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 10926289 10926389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 109268516 109313927 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 109287640 109287730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 109326305 109447182 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 109327124 109327424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 109327497 109327597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 109387336 109432308 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 109393000 109442000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr4 109556512 109556607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 109664704 109664804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AGXT2L1 chr4 109761182 109771086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL25A1 chr4 109761182 109771086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL25A1 chr4 109791190 109808423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL25A1 chr4 109791190 109808423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL25A1 chr4 109792755 109792861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL25A1 chr4 10979549 10979643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 109835411 109835826 Gain and loss Pancreatic cancer SNP array 17952125 COL25A1 chr4 109838948 109839048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL25A1 chr4 109882657 109903658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL25A1 chr4 109882657 109903658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL25A1 chr4 1098878 1137344 Gain and loss Pancreatic cancer SNP array 17952125 RNF212,TMED11P chr4 1098986 1137514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF212,TMED11P chr4 109899327 109909172 Gain and loss Pancreatic cancer SNP array 17952125 COL25A1 chr4 1099048 1137514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 RNF212,TMED11P chr4 109929345 109946584 Gain and loss Pancreatic cancer SNP array 17952125 COL25A1 chr4 109930910 109931016 Gain and loss Pancreatic cancer SNP array 17952125 COL25A1 chr4 109938701 109943400 Deletion Glioma mate-paired sequence 20126413 COL25A1 chr4 109954304 110443248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 COL25A1,SEC24B,SEC24B-AS1 chr4 109954304 110443248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 COL25A1,SEC24B,SEC24B-AS1 chr4 109982344 109982424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL25A1 chr4 110020812 110041813 Gain and loss Pancreatic cancer SNP array 17952125 COL25A1 chr4 110026664 110050277 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 COL25A1 chr4 110056181 110056281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL25A1 chr4 11009085 11039635 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr4 11009086 11039635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 11009086 11039635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 110096157 110580779 Gain and loss Pancreatic cancer SNP array 17952125 CCDC109B,COL25A1,SEC24B,SEC24B-AS1 chr4 110099299 110531392 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CCDC109B,COL25A1,SEC24B,SEC24B-AS1 chr4 110197668 110884504 LOH Normal High-resolution SNP genotyping 21211785 CASP6,CCDC109B,CFI,COL25A1,EGF,GAR1,LRIT3,PLA2G12A,RRH,SEC24B,SEC24B-AS1 chr4 110209503 110209603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 COL25A1 chr4 11022842 11023842 Loss Osteosarcoma References 21215367 NOT_FOUND chr4 110247301 110251900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 11024771 11024882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 11024773 11024882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 110249318 110267290 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 1102502 1102631 Gain and loss Pancreatic cancer SNP array 17952125 RNF212 chr4 1102672 1102801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF212 chr4 110307333 110307433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 110340748 110340848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11037052 11037144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 110524471 110553781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC109B chr4 110558783 110558923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC109B chr4 110574320 110681058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASP6,CCDC109B,CFI,PLA2G12A chr4 110574320 110681058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP6,CCDC109B,CFI,PLA2G12A chr4 110591378 110591672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC109B chr4 110591380 110591673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC109B chr4 110600958 110612955 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CASP6,CCDC109B chr4 110629303 110629400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 110629922 110630022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 110659744 110659873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 110680573 110714504 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CFI chr4 110700814 110829331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CFI,GAR1,LRIT3,RRH chr4 110700814 110829331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CFI,GAR1,LRIT3,RRH chr4 110712475 110819213 Gain and loss Pancreatic cancer SNP array 17952125 CFI,GAR1,LRIT3,RRH chr4 110718190 110718514 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CFI chr4 110729533 110729827 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 11076645 11107658 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 110796079 110830240 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 110797899 110798028 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 110804269 110804358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11081445 11081535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 110829085 111544287 LOH Normal High-resolution SNP genotyping 21211785 EGF,ELOVL6,ENPEP,PITX2 chr4 110829233 110844078 Gain or loss Breast cancer - 20668451 EGF chr4 110829233 110844078 Gain or loss Cancer - 20668451 EGF chr4 110829233 110844078 Gain or loss Lung cancer - 20668451 EGF chr4 110829233 110844078 Gain or loss Ovarian cancer - 20668451 EGF chr4 110829233 110844078 Gain or loss Pancreas cancer - 20668451 EGF chr4 110829233 110844078 Gain or loss Prostate cancer - 20668451 EGF chr4 110829234 110844078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGF chr4 110829234 110844078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGF chr4 110839052 110967478 Gain and loss Pancreatic cancer SNP array 17952125 EGF chr4 110854140 110870660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGF chr4 110854140 110870660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGF chr4 110881144 110881244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGF chr4 110881296 110942784 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 EGF chr4 110881297 110942783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 EGF chr4 110881297 110942783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 EGF chr4 1 10900000 Gain Normal Human genome CGH 82k ARRAY PLATFORM 22144094 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,C4orf48,C4orf6,CCDC96,CLNK,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,FLJ36777,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KIAA0232,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC285484,LOC402160,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MFSD7,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR548I2,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PSAPL1,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 110905421 110905521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EGF chr4 11091942 11092053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 110956115 110965340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 110956115 110965340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 110967389 110982233 Gain and loss Pancreatic cancer SNP array 17952125 ELOVL6 chr4 110967908 110967973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 110968599 110985312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELOVL6 chr4 110968599 110985312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELOVL6 chr4 110991935 111012920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELOVL6 chr4 110991935 111012920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELOVL6 chr4 110992295 111008815 Gain and loss Pancreatic cancer SNP array 17952125 ELOVL6 chr4 111005335 111050729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ELOVL6 chr4 111018042 111540908 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ELOVL6,ENPEP,PITX2 chr4 111026380 112711420 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 ELOVL6,ENPEP,PITX2 chr4 111053488 111152870 Gain or loss Breast cancer - 20668451 ELOVL6 chr4 111053488 111152870 Gain or loss Cancer - 20668451 ELOVL6 chr4 111053488 111152870 Gain or loss Lung cancer - 20668451 ELOVL6 chr4 111053488 111152870 Gain or loss Ovarian cancer - 20668451 ELOVL6 chr4 111053488 111152870 Gain or loss Pancreas cancer - 20668451 ELOVL6 chr4 111053488 111152870 Gain or loss Prostate cancer - 20668451 ELOVL6 chr4 111053499 111152860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELOVL6 chr4 111053499 111152860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELOVL6 chr4 111060188 111065185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ELOVL6 chr4 111070933 112556265 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 ELOVL6,ENPEP,PITX2 chr4 11107349 11107449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11107525 11107577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111094270 111120965 Gain and loss Pancreatic cancer SNP array 17952125 ELOVL6 chr4 111101573 111102547 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ELOVL6 chr4 111106739 111123267 Gain and loss Pancreatic cancer SNP array 17952125 ELOVL6 chr4 111130090 111151074 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 111132930 111133036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 111136614 111136704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111157836 111158364 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 111186451 111339258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 111186451 111339258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 111191654 111429352 Gain and loss Pancreatic cancer SNP array 17952125 ENPEP chr4 111253523 111253558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111271085 111271191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 111280 131236 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF718 chr4 11128099 11128198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111292539 111292639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 11300000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,C4orf48,C4orf6,CCDC96,CLNK,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,FLJ36777,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KIAA0232,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC285484,LOC402160,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MFSD7,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR548I2,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PSAPL1,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 111328147 111477375 Gain and loss Pancreatic cancer SNP array 17952125 ENPEP chr4 111376898 111380103 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 111418794 111418896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENPEP chr4 111430449 111430549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENPEP chr4 111432336 111432436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENPEP chr4 111439089 111439155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENPEP chr4 111473978 112001343 LOH Normal High-resolution SNP genotyping 21211785 ENPEP,PITX2 chr4 111498325 111498411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11150642 11801533 LOH Normal High-resolution SNP genotyping 21211785 HS3ST1,MIR572 chr4 111523518 111523668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111529405 111529497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111530635 111530859 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 111544287 112427021 LOH Normal High-resolution SNP genotyping 21211785 PITX2 chr4 111556945 111557037 Gain and loss Pancreatic cancer SNP array 17952125 PITX2 chr4 111558824 111558867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PITX2 chr4 111573714 111573793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 111602650 111602981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 111602656 111602981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1116050 1129814 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 TMED11P chr4 111616678 111703938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 111616678 111703938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 111673325 111673425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111711869 111711948 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 111735769 111735958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 111748301 111748398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111751001 111775000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 111754929 111841027 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 111758031 111782611 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 111758031 111782611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 111778901 111778960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 11178481 11179037 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 111871063 111904724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 111874662 111875003 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 111896186 111920721 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 111897171 112697619 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 111925464 111945001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 111943891 111943959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 111993981 111994075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 112001187 112001252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 112028200 112028508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 112031945 113466154 LOH Normal High-resolution SNP genotyping 21211785 ALPK1,AP1AR,C4orf21,C4orf32,NEUROG2,TIFA chr4 112080232 112110993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 112093090 112093179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11213641 11213675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112141878 112141978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11215872 11215972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112199741 112199841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112233839 113253311 LOH Normal High-resolution SNP genotyping 21211785 ALPK1,AP1AR,C4orf32,TIFA chr4 112278719 112279030 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 112351004 112351036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112368098 112369098 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr4 112369891 112370891 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr4 112372959 114595023 Substitutions and indels small cell lung cancer array-CGH 20016488 ALPK1,ANK2,AP1AR,C4orf21,C4orf32,CAMK2D,LARP7,MIR1243,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,NEUROG2,TIFA chr4 112418452 112418540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112456179 112462075 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 112472017 112472123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 112516768 112529062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 112516864 112525864 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 11253735 11318839 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 112561988 112562088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112569716 112569816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112610172 112610278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 112610173 112610278 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 112628865 112628965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11263614 11263708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112642208 112642308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112643652 112643752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112647668 112648005 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 112654433 112654533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112660766 112674293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 112660896 112661437 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 112664126 112757908 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr4 112689036 112689333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 112698474 112698534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112699516 112699934 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 112703469 112703569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 112739877 113478416 LOH Normal High-resolution SNP genotyping 21211785 ALPK1,AP1AR,C4orf21,C4orf32,NEUROG2,TIFA chr4 11274940 11283043 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 11274940 11283043 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 11275660 11279791 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 112773501 132793991 Copy number Lung cancer paired-end sequencing 18438408 ADAD1,ALPK1,ANK2,ANKRD50,ANXA5,AP1AR,ARSJ,BBS12,BBS7,C4orf21,C4orf29,C4orf3,C4orf32,C4orf33,CAMK2D,CCNA2,CEP170P1,CETN4P,EXOSC9,FABP2,FAT4,FGF2,FLJ14186,HSPA4L,IL2,IL21,INTU,KIAA1109,LARP1B,LARP7,LOC285419,LOC645513,MAD2L1,METTL14,MFSD8,MIR1243,MIR1973,MIR2054,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,MIR577,MYOZ2,NDNF,NDST3,NDST4,NEUROG2,NUDT6,PDE5A,PGRMC2,PHF17,PLK4,PP12613,PRDM5,PRSS12,QRFPR,SCLT1,SEC24D,SLC25A31,SNHG8,SNORA24,SPATA5,SPRY1,SYNPO2,TIFA,TMEM155,TNIP3,TRAM1L1,TRPC3,UGT8,USP53 chr4 112810446 112935617 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 112879156 113100317 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C4orf32 chr4 112922084 113764131 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 ALPK1,ANK2,AP1AR,C4orf21,C4orf32,LARP7,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,NEUROG2,TIFA chr4 112968503 113002680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 112984177 112994080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 11300000 21300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 BOD1L1,BST1,C1QTNF7,CC2D2A,CD38,CLRN2,CPEB2,DCAF16,FAM184B,FAM200B,FBXL5,FGFBP1,FGFBP2,FLJ39653,HS3ST1,HSP90AB2P,KCNIP4,LAP3,LCORL,LDB2,LOC152742,LOC285547,LOC285548,LOC441009,MED28,MIR218-1,MIR5091,MIR548AX,MIR572,NCAPG,NKX3-2,PACRGL,PROM1,QDPR,RAB28,SLIT2,SLIT2-IT1,TAPT1 chr4 11300000 27700000 Loss Breast cancer Microarray-based CGH 17133270 ANAPC4,BOD1L1,BST1,C1QTNF7,C4orf52,CC2D2A,CCDC149,CCKAR,CD38,CLRN2,CPEB2,DCAF16,DHX15,FAM184B,FAM200B,FBXL5,FGFBP1,FGFBP2,FLJ39653,GBA3,GPR125,HS3ST1,HSP90AB2P,KCNIP4,KCNIP4-IT1,LAP3,LCORL,LDB2,LGI2,LOC100505912,LOC152742,LOC285540,LOC285547,LOC285548,LOC441009,MED28,MIR218-1,MIR5091,MIR548AJ2,MIR548AX,MIR572,MIR573,NCAPG,NKX3-2,PACRGL,PI4K2B,PPARGC1A,PROM1,QDPR,RAB28,RBPJ,SEL1L3,SEPSECS,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TAPT1,TBC1D19,ZCCHC4 chr4 113066691 113097636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 C4orf32 chr4 113077376 113077475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C4orf32 chr4 113181070 113181170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AP1AR chr4 113181495 113181595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 AP1AR chr4 113278624 113278724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALPK1 chr4 113286127 113329678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ALPK1 chr4 113286127 113329678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ALPK1 chr4 113345672 113345772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ALPK1 chr4 11336969 11337969 Gain Osteosarcoma References 21215367 NOT_FOUND chr4 113372430 113410652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113372430 113410652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 11339170 11339202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 113414662 113414755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113414677 113414758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113416232 113426508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113416232 113426508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113424282 113467833 Gain and loss Pancreatic cancer SNP array 17952125 C4orf21,NEUROG2 chr4 113437948 113583211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf21,LARP7,MIR302A,MIR302B,MIR302C,MIR302D,MIR367 chr4 113437948 113583211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf21,LARP7,MIR302A,MIR302B,MIR302C,MIR302D,MIR367 chr4 113497501 113500500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C4orf21 chr4 1134990 1137319 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 113510547 113548807 Gain and loss Pancreatic cancer SNP array 17952125 C4orf21 chr4 1135226 1137337 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 113545025 113545125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C4orf21 chr4 113552817 113552910 Gain and loss Pancreatic cancer SNP array 17952125 C4orf21 chr4 1135541 1135957 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 NOT_FOUND chr4 113554779 113564663 Gain and loss Pancreatic cancer SNP array 17952125 C4orf21,LARP7 chr4 113567956 113568017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LARP7 chr4 113611323 113644646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 113654125 113656777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113654125 113656777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113656456 113720433 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 113679949 113728256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113679949 113728256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 113689424 113689730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 113707291 113707391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 113730236 113777508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113730236 113777508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113732216 113735692 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 113772340 113788584 Duplication Attention deficit hyperactivity disorder - 22138692 ANK2 chr4 113777569 113798190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113777569 113798190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113788479 113788546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113788609 113788676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113788788 113788856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113788968 113789035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113789090 113789162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113792280 113794932 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113795301 113795375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 11380000 15160000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 BOD1L1,CPEB2,HS3ST1,HSP90AB2P,LOC152742,LOC285547,LOC285548,LOC441009,MIR5091,NKX3-2,RAB28 chr4 113809641 114030931 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 ANK2,MIR1243 chr4 113818104 113866510 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113825645 113826108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113831054 113831284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113843748 113844146 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113851902 113884512 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANK2 chr4 113868395 113915663 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113896421 113896522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113915886 113936345 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113926634 113926701 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113926764 113926831 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113926943 113927011 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113927123 113927190 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113927245 113927317 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 11393017 11393117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 113933456 113933530 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113958687 114522076 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 ANK2,CAMK2D,MIR1243 chr4 113958687 114522076 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 ANK2,CAMK2D,MIR1243 chr4 113963800 113964263 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113967748 113968209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 113967887 114781182 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANK2,CAMK2D,MIR1243 chr4 113967887 115166317 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANK2,ARSJ,CAMK2D,MIR1243 chr4 113969209 113969439 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 113988115 114141597 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ANK2,MIR1243 chr4 114001 115500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF718 chr4 114018059 114018265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK2 chr4 114018249 114018435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK2 chr4 114034578 114034677 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 114034579 114034677 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 114039390 114058472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANK2 chr4 114067315 114067638 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 114086855 114086955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK2 chr4 114100000 120600000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 ANK2,ARSJ,C4orf3,CAMK2D,CEP170P1,FABP2,FLJ14186,LOC645513,METTL14,MIR1973,MIR577,MYOZ2,NDST3,NDST4,PDE5A,PRSS12,SEC24D,SNHG8,SNORA24,SYNPO2,TRAM1L1,UGT8,USP53 chr4 114100000 120600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANK2,ARSJ,C4orf3,CAMK2D,CEP170P1,FABP2,FLJ14186,LOC645513,METTL14,MIR1973,MIR577,MYOZ2,NDST3,NDST4,PDE5A,PRSS12,SEC24D,SNHG8,SNORA24,SYNPO2,TRAM1L1,UGT8,USP53 chr4 114100000 120600000 Copy number Normal - 21701786 ANK2,ARSJ,C4orf3,CAMK2D,CEP170P1,FABP2,FLJ14186,LOC645513,METTL14,MIR1973,MIR577,MYOZ2,NDST3,NDST4,PDE5A,PRSS12,SEC24D,SNHG8,SNORA24,SYNPO2,TRAM1L1,UGT8,USP53 chr4 114100000 120600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANK2,ARSJ,C4orf3,CAMK2D,CEP170P1,FABP2,FLJ14186,LOC645513,METTL14,MIR1973,MIR577,MYOZ2,NDST3,NDST4,PDE5A,PRSS12,SEC24D,SNHG8,SNORA24,SYNPO2,TRAM1L1,UGT8,USP53 chr4 114100000 120800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ANK2,ARSJ,C4orf3,CAMK2D,CEP170P1,FABP2,FLJ14186,LOC645513,METTL14,MIR1973,MIR577,MYOZ2,NDST3,NDST4,PDE5A,PRSS12,SEC24D,SNHG8,SNORA24,SYNPO2,TRAM1L1,UGT8,USP53 chr4 114100000 139500000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 113 samples 21899760 ADAD1,ANK2,ANKRD50,ANXA5,ARSJ,BBS12,BBS7,C4orf29,C4orf3,C4orf33,CAMK2D,CCNA2,CEP170P1,CETN4P,EXOSC9,FABP2,FAT4,FGF2,FLJ14186,HSPA4L,IL2,IL21,INTU,KIAA1109,LARP1B,LINC00499,LINC00616,LOC285419,LOC645513,MAD2L1,METTL14,MFSD8,MIR1973,MIR2054,MIR577,MYOZ2,NDNF,NDST3,NDST4,NUDT6,PABPC4L,PCDH10,PCDH18,PDE5A,PGRMC2,PHF17,PLK4,PP12613,PRDM5,PRSS12,QRFPR,SCLT1,SEC24D,SLC25A31,SLC7A11,SLC7A11-AS1,SNHG8,SNORA24,SPATA5,SPRY1,SYNPO2,TMEM155,TNIP3,TRAM1L1,TRPC3,UGT8,USP53 chr4 114102368 114102468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK2 chr4 114105906 114106364 Gain and loss Pancreatic cancer SNP array 17952125 ANK2 chr4 114150199 114185500 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANK2 chr4 114175149 114175249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK2 chr4 114190281 114529333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANK2,CAMK2D chr4 114190281 114529333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2,CAMK2D chr4 114203501 114207500 Deletion Glioma mate-paired sequence 20126413 ANK2 chr4 114205324 114205785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANK2 chr4 114216435 114216535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK2 chr4 114219937 114355024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 114219937 114355024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANK2 chr4 114269097 114269187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK2 chr4 114274100 114274152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANK2 chr4 114317 126039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF718 chr4 114328474 114662488 Gain and loss Pancreatic cancer SNP array 17952125 CAMK2D chr4 114348640 114350525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 114354542 114355026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 114371664 114371712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 114373569 114683203 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 CAMK2D chr4 114374777 114375243 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 CAMK2D chr4 114384365 114384440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK2D chr4 114422357 114422457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK2D chr4 114422447 114422613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK2D chr4 114437057 114529519 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CAMK2D chr4 114437945 114438713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CAMK2D chr4 114480090 114529519 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 CAMK2D chr4 114492806 114493153 Gain and loss Pancreatic cancer SNP array 17952125 CAMK2D chr4 114553883 114553976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CAMK2D chr4 114560445 114560739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMK2D chr4 114560445 114560740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMK2D chr4 114560928 114561091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CAMK2D chr4 114579748 114580748 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 CAMK2D chr4 114591637 114902177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARSJ,CAMK2D chr4 114591637 114902177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARSJ,CAMK2D chr4 114599895 120457539 Substitutions and indels small cell lung cancer array-CGH 20016488 ARSJ,C4orf3,CAMK2D,CEP170P1,FABP2,FLJ14186,LOC645513,METTL14,MIR1973,MIR577,MYOZ2,NDST3,NDST4,PDE5A,PRSS12,SEC24D,SNHG8,SNORA24,SYNPO2,TRAM1L1,UGT8,USP53 chr4 114698600 114698895 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 114699083 114699246 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 114731177 115040332 Gain and loss Pancreatic cancer SNP array 17952125 ARSJ chr4 114761549 114761649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1148001 1163000 Copy number Normal ReadDepth: A Parallel R Package 21305028 SPON2 chr4 114805354 114805454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11481370 11481470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11481624 11481724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1148366 1151952 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 114838552 114861136 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ARSJ chr4 11486501 11486558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 114869128 118137034 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARSJ,MIR1973,MIR577,NDST4,TRAM1L1,UGT8 chr4 114896713 114896813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARSJ chr4 114922757 114922857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1149293 1149712 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 NOT_FOUND chr4 114947203 114989485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 11496203 11496303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11496907 11497007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 115040888 115120327 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr4 115040889 115120327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 115040889 115120327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1150555 1156432 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1150723 1156597 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 NOT_FOUND chr4 1150725 1156602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 1150725 1156602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1150725 1156602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 115132500 115132600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 115134935 115202518 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 115181285 115257594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 11518266 11518356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 15300000 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss FISH and chromosome banding 20606397 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,BOD1L1,C4orf48,C4orf6,CCDC96,CLNK,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,FLJ36777,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KIAA0232,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC152742,LOC285484,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MFSD7,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PSAPL1,RAB28,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 115364724 115532828 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 UGT8 chr4 115366437 115366661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 115385402 115403523 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 115385402 115403523 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 115391028 115401624 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115391031 115401612 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 115391082 115401624 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115391130 115401624 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115391130 115403759 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115392078 115403394 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 115392801 115405200 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 115393012 115393105 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 115393105 115394771 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 115393105 115401624 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115393105 115403701 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115393138 115403688 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr4 115393138 115403758 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr4 115393149 115401624 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115394549 115403611 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 115394575 115403284 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 115394760 115401612 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115394771 115394772 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 115394772 115401624 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115394772 115401624 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 115394772 115401624 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 115394781 115401612 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 115401624 115403839 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 115403839 115406014 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 11544437 11545200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 11549965 11550065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 115504609 115504709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 115529622 115541899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UGT8 chr4 115529677 115562314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UGT8 chr4 115530075 115548814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UGT8 chr4 115530198 115552664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 UGT8 chr4 115549718 115549929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UGT8 chr4 115613762 115613836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 115699683 115888815 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NDST4 chr4 115705949 115947929 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NDST4 chr4 115724914 115733794 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 115724914 115733794 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 115725301 115735300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 115726874 115734910 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 115726874 115734910 Total allelic loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 115727006 115737091 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 115727006 115737091 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr4 115727269 115730489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 115727615 115729903 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 115727615 115729903 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 115730546 115733306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 115739414 115817463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDST4 chr4 115739414 115817463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDST4 chr4 115797364 115797459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDST4 chr4 115842401 115846100 Deletion Glioma mate-paired sequence 20126413 NDST4 chr4 115844047 115844319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NDST4 chr4 115854601 115886755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDST4 chr4 115854700 115876230 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDST4 chr4 115860948 115876523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDST4 chr4 115877215 115955089 Gain and loss Pancreatic cancer SNP array 17952125 NDST4 chr4 11587898 11587998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 115896480 115896580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDST4 chr4 115932478 115932557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDST4 chr4 115939918 115984595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NDST4 chr4 115939936 115940232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDST4 chr4 115939936 115940233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDST4 chr4 115941044 116460667 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NDST4 chr4 115941044 116808922 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NDST4 chr4 115963337 115963581 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NDST4 chr4 115968378 116254481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDST4 chr4 115968378 116254481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDST4 chr4 115987691 115988021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NDST4 chr4 116004046 116025005 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NDST4 chr4 116078091 116078388 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 116106533 116392636 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 116126317 116126417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116148169 116151322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 116148170 116151343 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 116156104 116156204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116180005 116180105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116214011 116251390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 116222429 116609759 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 116236735 116236820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 116245729 116245829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116258510 116259510 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 NOT_FOUND chr4 11630237 13167874 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 116385245 116399672 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr4 116386356 116396630 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 116386404 116397731 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 116392056 116395574 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 116392060 116395574 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 116429474 116429531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11647117 11647217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116514058 116541005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 116550748 116550848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116600248 116600348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116602406 116602506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116609203 116609283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116614534 116646064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 116621852 116809401 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 116641331 116641448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 11683665 11683754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 116943054 116944786 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 117000000 137000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 ADAD1,ANKRD50,ANXA5,BBS12,BBS7,C4orf29,C4orf3,C4orf33,CCNA2,CEP170P1,CETN4P,EXOSC9,FABP2,FAT4,FGF2,FLJ14186,HSPA4L,IL2,IL21,INTU,KIAA1109,LARP1B,LOC285419,LOC645513,MAD2L1,METTL14,MFSD8,MIR1973,MIR2054,MYOZ2,NDNF,NDST3,NUDT6,PABPC4L,PCDH10,PDE5A,PGRMC2,PHF17,PLK4,PP12613,PRDM5,PRSS12,QRFPR,SCLT1,SEC24D,SLC25A31,SNHG8,SNORA24,SPATA5,SPRY1,SYNPO2,TMEM155,TNIP3,TRAM1L1,TRPC3,USP53 chr4 117005606 117005706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 117082890 117082987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 117134909 117134983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11716366 11716441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 117191242 119614346 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 CEP170P1,METTL14,MIR1973,NDST3,PRSS12,SNHG8,SNORA24,TRAM1L1 chr4 117199427 117200117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 117209270 117209367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 117260800 117551180 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 1172681 1172735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPON2 chr4 117291716 118395629 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 TRAM1L1 chr4 117314712 117314843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 117350421 117350553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 117391791 119229200 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NDST3,PRSS12,SNHG8,SNORA24,TRAM1L1 chr4 117438348 117438418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 117439384 117439452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 117441563 117441663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 117470919 117471236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 117470928 117471244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 117482746 119229200 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NDST3,PRSS12,SNHG8,SNORA24,TRAM1L1 chr4 1175501 1232000 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTBP1,LOC100130872,SPON2 chr4 117576503 117576573 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 117576593 117576857 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 117577539 117577607 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 117585501 117589900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 117587096 117587942 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 117587244 117587936 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 117640078 117640355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 11764104 11765611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 117696140 117705003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 117738765 117740215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 117739001 117741000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 117756443 117756475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 117866565 117869001 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 117876920 117878370 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 117879914 117978482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 117879914 117978482 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 11792084 11792184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1179437 1185034 Gain and loss Pancreatic cancer SNP array 17952125 SPON2 chr4 1179609 1185204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPON2 chr4 117979883 117979989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 118061477 118061572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118118038 118118143 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 118118038 118118144 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 118148184 118165085 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr4 118189563 124986420 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ADAD1,ANXA5,BBS12,BBS7,C4orf3,CCNA2,CEP170P1,CETN4P,EXOSC9,FABP2,FGF2,FLJ14186,IL2,IL21,KIAA1109,LOC285419,LOC645513,MAD2L1,METTL14,MYOZ2,NDNF,NDST3,NUDT6,PDE5A,PP12613,PRDM5,PRSS12,QRFPR,SEC24D,SNHG8,SNORA24,SPATA5,SPRY1,SYNPO2,TMEM155,TNIP3,TRPC3,USP53 chr4 118224158 118226180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 118224158 118226180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 11824185 11848374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 11826424 11826524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118265631 118265731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118363043 118364152 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 118373406 118698404 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-457K arrays 21546498 NOT_FOUND chr4 118390528 118390792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 118402096 118402155 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 118403735 118403835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11840501 11840596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1184431 1185198 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 SPON2 chr4 118447945 119918231 LOH Normal High-resolution SNP genotyping 21211785 CEP170P1,METTL14,NDST3,PRSS12,SEC24D,SNHG8,SNORA24,SYNPO2 chr4 11851031 11851115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118532738 118532833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118554066 118554883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 118672125 118672225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118715701 118716712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 118715701 118716712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 118723545 118723645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118726810 118726910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118736034 118736113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 118750210 118783765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 118788214 118788264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 118836451 119926714 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CEP170P1,METTL14,NDST3,PRSS12,SEC24D,SNHG8,SNORA24,SYNPO2 chr4 118853856 118854867 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 11900747 11901056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 119074012 119074912 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NDST3 chr4 119080947 119081022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NDST3 chr4 1 191190100 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Copy number HIV/AIDS Quantitative real time PCR, CGH 22032296 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Deletion,amplification,duplication Normal Affymetrix 250K SNP array 21412953 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Deletion Normal Arbitrated Peel-off 21527027 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Deletion Normal GeneGISTIC 21527027 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Deletion Normal Standard peel-off 21527027 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Gain Glioblastoma multiforme aCGH 21080181 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Gain Medulloblastoma SNP arrays 21979893 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Indels Normal Affymetrix 6.0 array 21223598 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Loss Chordoma Array CGH 21602918 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Loss Esophageal squamous carcinoma CGH 21637470 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Loss Glioblastoma multiforme aCGH 21080181 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 1 191273063 Loss Glioblastoma multiforme conventional CGH 21080181 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 11914286 11914386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 119144449 119144544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NDST3 chr4 11917274 11917374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 119174213 119399235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDST3,PRSS12,SNHG8,SNORA24 chr4 119174213 119399235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDST3,PRSS12,SNHG8,SNORA24 chr4 119194270 119194329 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr4 119208569 119208669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRSS12 chr4 1192165 1199370 Copy number Autism exome sequencing 22495311 LOC100130872,SPON2 chr4 11923310 11923412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 119252352 119252715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRSS12 chr4 119263536 119322712 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRSS12 chr4 119273283 119354585 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRSS12 chr4 119313215 119537390 Gain and loss Pancreatic cancer SNP array 17952125 CEP170P1 chr4 11932414 12735146 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 119340407 119349777 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 119340407 119349777 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr4 119344860 119349647 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 119345144 119349757 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 119419793 119419923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 119421865 119493370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CEP170P1 chr4 119421865 119493370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CEP170P1 chr4 119460952 119501937 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CEP170P1 chr4 119463162 119466525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CEP170P1 chr4 119476628 119499550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 119499615 120912496 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C4orf3,FABP2,FLJ14186,LOC645513,METTL14,MYOZ2,PDE5A,SEC24D,SYNPO2,USP53 chr4 119499615 122038990 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C4orf3,FABP2,FLJ14186,LOC645513,MAD2L1,METTL14,MYOZ2,NDNF,PDE5A,PRDM5,SEC24D,SYNPO2,USP53 chr4 119501206 119502206 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 119504681 119504781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1195072 1232730 Gain and loss Pancreatic cancer SNP array 17952125 CTBP1,LOC100130872,SPON2 chr4 119515791 119516126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1195228 1232908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTBP1,LOC100130872,SPON2 chr4 1195228 1232908 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 CTBP1,LOC100130872,SPON2 chr4 1195228 1232908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTBP1,LOC100130872,SPON2 chr4 119542211 119542333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 119557948 119558078 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 119558637 119812013 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 METTL14,SEC24D,SYNPO2 chr4 119560020 119631525 Gain and loss Pancreatic cancer SNP array 17952125 METTL14 chr4 11957419 11957508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11960972 11961072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 11964305 11978983 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 119654598 119695931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC24D chr4 11969034 11979097 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 119695622 119695722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEC24D chr4 119747053 119747156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC24D chr4 119747054 119747156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SEC24D chr4 119756247 119756327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SEC24D chr4 119756655 119783919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SEC24D chr4 119771501 119779500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 119774538 119774737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 119774720 119774942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 119792753 119834086 Gain and loss Pancreatic cancer SNP array 17952125 SYNPO2 chr4 119825995 119851523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNPO2 chr4 119825995 119851523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNPO2 chr4 119849842 119850842 Gain Chronic lymphocytic leukemia References 21215367 SYNPO2 chr4 119851522 120032345 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SYNPO2 chr4 119852103 119853103 Loss Chronic lymphocytic leukemia References 21215367 SYNPO2 chr4 119852135 119853135 Gain Chronic lymphocytic leukemia References 21215367 SYNPO2 chr4 119863427 119976702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SYNPO2 chr4 119863427 119976702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SYNPO2 chr4 119885209 119885311 Gain and loss Pancreatic cancer SNP array 17952125 SYNPO2 chr4 11990507 11990583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 119907503 119907603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPO2 chr4 119931014 119931114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPO2 chr4 119936685 119936785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SYNPO2 chr4 119951745 119952745 Loss Chronic lymphocytic leukemia References 21215367 SYNPO2 chr4 119952131 119953131 Gain Chronic lymphocytic leukemia References 21215367 SYNPO2 chr4 119956158 119957158 Gain Chronic lymphocytic leukemia References 21215367 SYNPO2 chr4 119964150 119989678 Gain and loss Pancreatic cancer SNP array 17952125 SYNPO2 chr4 120001582 120114869 Gain and loss Pancreatic cancer SNP array 17952125 MYOZ2 chr4 120028959 120029054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 120029444 120201841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MYOZ2,USP53 chr4 120029444 120201841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MYOZ2,USP53 chr4 120167613 120314577 Gain and loss Pancreatic cancer SNP array 17952125 C4orf3,FABP2,USP53 chr4 120200465 120200642 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 USP53 chr4 120219464 120261454 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 C4orf3,FABP2 chr4 120233247 120233570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 120234822 120234922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 120236684 120237003 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 120246693 120247026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 120257 120351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF718 chr4 120275755 121010198 LOH Normal High-resolution SNP genotyping 21211785 FLJ14186,LOC645513,MAD2L1,PDE5A chr4 120276469 120328383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ14186 chr4 120276469 120328383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ14186 chr4 120333376 120353115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1203395 1265560 Deletion Breast cancer Illumina 1M duo array 20393555 CTBP1,CTBP1-AS1 chr4 120353229 120436121 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 LOC645513,PDE5A chr4 120353229 120436121 Gain or loss Breast cancer - 20668451 LOC645513,PDE5A chr4 120353229 120436121 Gain or loss Cancer - 20668451 LOC645513,PDE5A chr4 120353229 120436121 Gain or loss Lung cancer - 20668451 LOC645513,PDE5A chr4 120353229 120436121 Gain or loss Ovarian cancer - 20668451 LOC645513,PDE5A chr4 120353229 120436121 Gain or loss Pancreas cancer - 20668451 LOC645513,PDE5A chr4 120353229 120436121 Gain or loss Prostate cancer - 20668451 LOC645513,PDE5A chr4 120353239 120435239 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC645513,PDE5A chr4 120353239 120435239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC645513,PDE5A chr4 120353239 120435239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC645513,PDE5A chr4 120377971 120378138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC645513 chr4 120384719 120419761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC645513,PDE5A chr4 120414624 120466538 Gain and loss Pancreatic cancer SNP array 17952125 LOC645513,PDE5A chr4 1 2043468 Copy number Normal - 21701786 ABCA11P,ATP5I,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM53A,FGFR3,FGFRL1,GAK,IDUA,LETM1,LOC100129917,LOC100130872,MAEA,MFSD7,MIR943,MYL5,PCGF3,PDE6B,PIGG,RNF212,SCARNA22,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,UVSSA,WHSC1,WHSC2,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 120437021 120441416 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PDE5A chr4 120439095 120445048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE5A chr4 120457852 120462764 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 PDE5A chr4 120457854 120462766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PDE5A chr4 120457854 120462766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE5A chr4 120458882 120458982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE5A chr4 120462411 120607443 Substitutions and indels small cell lung cancer array-CGH 20016488 PDE5A chr4 120464007 120464351 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDE5A chr4 120471531 120491270 Gain and loss Pancreatic cancer SNP array 17952125 PDE5A chr4 120508165 120508322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE5A chr4 120516039 120599824 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PDE5A chr4 120516126 120516293 Gain and loss Pancreatic cancer SNP array 17952125 PDE5A chr4 120525254 120525349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDE5A chr4 120535198 120573386 Gain and loss Pancreatic cancer SNP array 17952125 PDE5A chr4 120544944 120545349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE5A chr4 120547423 120547967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PDE5A chr4 120557212 120557310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 120574608 120574710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 120574608 120574711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 120575815 120579333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 120596009 120600921 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 120600000 124000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAD1,ANXA5,BBS12,BBS7,CCNA2,CETN4P,EXOSC9,FGF2,IL2,IL21,KIAA1109,MAD2L1,NDNF,NUDT6,PP12613,PRDM5,QRFPR,SPATA5,TMEM155,TNIP3,TRPC3 chr4 120601325 121421102 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 MAD2L1 chr4 120615243 124524531 Substitutions and indels small cell lung cancer array-CGH 20016488 ADAD1,ANXA5,BBS12,BBS7,CCNA2,CETN4P,EXOSC9,FGF2,IL2,IL21,KIAA1109,MAD2L1,NDNF,NUDT6,PP12613,PRDM5,QRFPR,SPATA5,SPRY1,TMEM155,TNIP3,TRPC3 chr4 120634997 120767890 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 NOT_FOUND chr4 120635000 120769429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 120635000 120769429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 120639769 120639869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 120643000 120675000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr4 120646320 120646391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 120646320 120646465 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 120656890 120684373 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 120684746 120688328 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 120687000 120734458 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr4 120706328 121596601 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 MAD2L1 chr4 120710302 120710428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 120712763 120712865 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 120730859 120730946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 120758901 120763600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 120772297 120775580 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 120776073 120907749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 120781491 122020132 LOH Normal High-resolution SNP genotyping 21211785 MAD2L1,NDNF,PRDM5 chr4 120796851 120796951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 120799416 120800326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 120800000 123800000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 ADAD1,ANXA5,BBS12,BBS7,CCNA2,CETN4P,EXOSC9,FGF2,IL2,IL21,KIAA1109,MAD2L1,NDNF,PP12613,PRDM5,QRFPR,TMEM155,TNIP3,TRPC3 chr4 120800000 123800000 Copy number Clear cell renal cell carcinoma Real-time PCR 18791270 ADAD1,ANXA5,BBS12,BBS7,CCNA2,CETN4P,EXOSC9,FGF2,IL2,IL21,KIAA1109,MAD2L1,NDNF,PP12613,PRDM5,QRFPR,TMEM155,TNIP3,TRPC3 chr4 120800000 123800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ADAD1,ANXA5,BBS12,BBS7,CCNA2,CETN4P,EXOSC9,FGF2,IL2,IL21,KIAA1109,MAD2L1,NDNF,PP12613,PRDM5,QRFPR,TMEM155,TNIP3,TRPC3 chr4 120800000 123800000 Loss Gastric cancer Array CGH 16891809 ADAD1,ANXA5,BBS12,BBS7,CCNA2,CETN4P,EXOSC9,FGF2,IL2,IL21,KIAA1109,MAD2L1,NDNF,PP12613,PRDM5,QRFPR,TMEM155,TNIP3,TRPC3 chr4 120800000 139500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ADAD1,ANKRD50,ANXA5,BBS12,BBS7,C4orf29,C4orf33,CCNA2,CETN4P,EXOSC9,FAT4,FGF2,HSPA4L,IL2,IL21,INTU,KIAA1109,LARP1B,LINC00499,LINC00616,LOC285419,MAD2L1,MFSD8,MIR2054,NDNF,NUDT6,PABPC4L,PCDH10,PCDH18,PGRMC2,PHF17,PLK4,PP12613,PRDM5,QRFPR,SCLT1,SLC25A31,SLC7A11,SLC7A11-AS1,SPATA5,SPRY1,TMEM155,TNIP3,TRPC3 chr4 120800000 191154276 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 AADAT,ABCE1,ACSL1,ADAD1,ADAM29,AGA,ANAPC10,ANKRD37,ANKRD50,ANP32C,ANXA10,ANXA2P1,ANXA5,ARFIP1,ARHGAP10,ASB5,ASIC5,BBS12,BBS7,C4orf27,C4orf29,C4orf33,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CCNA2,CCRN4L,CDKN2AIP,CEP44,CETN4P,CLCN3,CLDN22,CLDN24,CLGN,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,ELF2,ELMOD2,ENPP6,ETFDH,EXOSC9,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FAT4,FBXO8,FBXW7,FGA,FGB,FGF2,FGG,FHDC1,FLJ38576,FNIP2,FREM3,FRG1,FRG2,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,HSPA4L,IL15,IL2,IL21,ING2,INPP4B,INTU,IRF2,KIAA0922,KIAA1109,KIAA1430,KLHL2,KLKB1,LARP1B,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285419,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAD2L1,MAML3,MAP9,MARCH1,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1305,MIR2054,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAA15,NAF1,NBLA00301,NDNF,NDUFC1,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,NUDT6,ODZ3,OTUD4,PABPC4L,PALLD,PCDH10,PCDH18,PDGFC,PDLIM3,PET112,PGRMC2,PHF17,PLK4,PLRG1,POU4F2,PP12613,PPID,PRDM5,PRMT10,PRSS48,QRFPR,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCLT1,SCOC,SCRG1,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A31,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNORD73A,SNX25,SORBS2,SPATA4,SPATA5,SPCS3,SPOCK3,SPRY1,STOX2,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM155,TMEM184C,TMEM192,TNIP3,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRPC3,TTC29,UCP1,UFSP2,USP38,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 120923697 120923797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 20960 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 120990779 120990833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121000247 121000515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 121009858 121009994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121015176 121015276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121031986 121032084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121084971 121086044 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 121087734 121087835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 121115167 121201086 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 121142652 121177818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 121167821 121167921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121183012 121184566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 121200040 121207411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 121200040 121207411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 121225889 121225988 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 121225889 121225989 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1 21300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf6,CC2D2A,CCDC96,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KIAA0232,LAP3,LCORL,LDB2,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC152742,LOC285484,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548AX,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLIT2,SLIT2-IT1,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 21300000 Loss Basal cell lymphoma Array CGH 16317097 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf6,CC2D2A,CCDC96,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KIAA0232,LAP3,LCORL,LDB2,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC152742,LOC285484,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548AX,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLIT2,SLIT2-IT1,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 21300000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf6,CC2D2A,CCDC96,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KIAA0232,LAP3,LCORL,LDB2,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC152742,LOC285484,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548AX,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLIT2,SLIT2-IT1,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 121306543 121306751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 121338184 121345566 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 121341405 121341852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 121407335 121407435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121468891 121501272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 121479782 121502659 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 121487181 121500482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 121490988 121501773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 121492828 121500948 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 121516804 121516896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121578253 122960439 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA5,BBS7,CCNA2,EXOSC9,NDNF,PP12613,PRDM5,QRFPR,TMEM155,TNIP3,TRPC3 chr4 121582245 121582480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121582268 121582368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121594455 121594555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121620817 121621389 Gain and loss Pancreatic cancer SNP array 17952125 PRDM5 chr4 121627098 121627420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRDM5 chr4 121630973 121631073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM5 chr4 12173444 12335659 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 121743029 121762869 Gain or loss Normal Birdsuite, version 1.5.2 22087296 PRDM5 chr4 12180875 12180975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121816354 121816454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRDM5 chr4 121829150 121862868 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 PRDM5 chr4 121835380 122063463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NDNF,PRDM5,TNIP3 chr4 121835380 122063463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NDNF,PRDM5,TNIP3 chr4 121904490 122548926 LOH Normal High-resolution SNP genotyping 21211785 NDNF,QRFPR,TNIP3 chr4 121905710 122987002 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ANXA5,BBS7,CCNA2,EXOSC9,NDNF,PP12613,QRFPR,TMEM155,TNIP3,TRPC3 chr4 1219391 2274274 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,CRIPAK,CTBP1,CTBP1-AS1,FAM53A,FGFR3,HAUS3,LETM1,MAEA,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,UVSSA,WHSC1,WHSC2,ZFYVE28 chr4 1219391 2277318 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,CRIPAK,CTBP1,CTBP1-AS1,FAM53A,FGFR3,HAUS3,LETM1,MAEA,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,UVSSA,WHSC1,WHSC2,ZFYVE28 chr4 1219391 2414847 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,CRIPAK,CTBP1,CTBP1-AS1,FAM53A,FGFR3,HAUS3,LETM1,MAEA,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,UVSSA,WHSC1,WHSC2,ZFYVE28 chr4 121951074 121951174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 121954306 121954406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 121973535 122201618 Gain and loss Pancreatic cancer SNP array 17952125 NDNF,TNIP3 chr4 121980001 121981500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NDNF chr4 121988688 122644104 LOH Normal High-resolution SNP genotyping 21211785 ANXA5,NDNF,QRFPR,TNIP3 chr4 122004576 122004676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 122028380 122028696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 122028393 122028709 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 12205501 12206500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 122081513 122081839 Gain and loss Pancreatic cancer SNP array 17952125 TNIP3 chr4 122089229 122089329 Gain and loss Pancreatic cancer SNP array 17952125 TNIP3 chr4 122123 124962 Gain and loss Pancreatic cancer SNP array 17952125 ZNF718 chr4 122140544 122158851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TNIP3 chr4 122140570 122140635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNIP3 chr4 122147211 122147311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNIP3 chr4 12215354 12215454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 122168938 122203516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 122172883 123237584 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA5,BBS7,CCNA2,EXOSC9,KIAA1109,PP12613,QRFPR,TMEM155,TRPC3 chr4 122176232 122213123 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122176232 122213123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1 22195630 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf6,CC2D2A,CCDC96,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,LAP3,LCORL,LDB2,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC152742,LOC285484,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548AX,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLIT2,SLIT2-IT1,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 122196102 122196253 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 122196611 122196711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 122201775 122202083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122254619 123013621 LOH Normal High-resolution SNP genotyping 21211785 ANXA5,BBS7,CCNA2,EXOSC9,PP12613,QRFPR,TMEM155,TRPC3 chr4 122272017 122304926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 QRFPR chr4 122272017 122304926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 QRFPR chr4 122314387 122351174 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1223264 2277318 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,CRIPAK,CTBP1,CTBP1-AS1,FAM53A,FGFR3,HAUS3,LETM1,MAEA,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,UVSSA,WHSC1,WHSC2,ZFYVE28 chr4 1223264 2414847 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,CRIPAK,CTBP1,CTBP1-AS1,FAM53A,FGFR3,HAUS3,LETM1,MAEA,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,UVSSA,WHSC1,WHSC2,ZFYVE28 chr4 122333402 122333508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122339907 122340238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 122340000 122340238 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 122384262 122417161 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 122401696 122401786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 122410172 122443081 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 122427597 122428948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 122452100 122452216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 122454162 122454307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 122469247 122521631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122469247 122521631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122469674 122469775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122471557 122471663 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 122490220 122510581 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 122493081 122504585 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 122501700 122509401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 122501918 122504039 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 122504039 122504766 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 122510035 122510950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122521348 122543586 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 122607299 122607487 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANXA5 chr4 122607831 122607930 Gain and loss Pancreatic cancer SNP array 17952125 ANXA5 chr4 122608074 122659407 Gain and loss Pancreatic cancer SNP array 17952125 ANXA5 chr4 122614443 122648066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ANXA5 chr4 122648190 122649105 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 122657311 122657411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1226585 12311092 Copy number Autism exome sequencing 22495311 ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,BLOC1S4,C4orf48,C4orf6,CCDC96,CLNK,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DEFB131,DOK7,DRD5,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FLJ35424,FLJ36777,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HTRA3,HTT,HTT-AS1,JAKMIP1,KIAA0232,LETM1,LOC100129931,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC285484,LOC402160,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,POLN,PPP2R2C,PSAPL1,RGS12,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC2A9,SORCS2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMEM128,TMEM129,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF518B chr4 122667688 122712716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PP12613,TMEM155 chr4 122784987 123760187 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,BBS7,CETN4P,FGF2,IL2,IL21,KIAA1109,TRPC3 chr4 122785075 122785107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BBS7 chr4 122785684 123725783 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,BBS7,CETN4P,IL2,IL21,KIAA1109,TRPC3 chr4 122808598 122837585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRPC3 chr4 122808598 122837585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRPC3 chr4 122899535 122906032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122899535 122906032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122905190 122907412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122912505 123800244 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109 chr4 122920000 124450000 Loss Acute lymphoblastic leukemia - 21339820 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5,SPRY1 chr4 122920000 124450000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5,SPRY1 chr4 122941922 122957626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122941922 122957626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122946753 122975781 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 122957048 122964538 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 122957048 122964538 Gain or loss Cancer - 20668451 NOT_FOUND chr4 122957048 122964538 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 122957048 122964538 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 122957048 122964538 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 122957048 122964538 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 122957103 122957203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 122957991 122964468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122957991 122964468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122959807 122959895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 122965089 123011092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122965089 123011092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 122989446 122989546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 122994857 122994957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 122996091 122996180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123005507 123854604 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5 chr4 123007625 123007725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123017758 123458923 Duplication Dyslexia Array CGH 22102821 ADAD1,IL2,KIAA1109 chr4 123019633 123092285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA1109 chr4 123019633 123092285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1109 chr4 123025593 123025693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123037699 123043945 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 123043345 123045567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 123072396 123072471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 123075304 123075349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123080080 123095671 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1109 chr4 123089415 123089515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123096130 123102497 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1109 chr4 1 23100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf6,CC2D2A,CCDC96,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,LAP3,LCORL,LDB2,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548AX,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLIT2,SLIT2-IT1,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 123103242 123149247 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1109 chr4 123117399 123831887 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6 chr4 123121307 123966934 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5 chr4 123121953 123725440 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,IL2,IL21,KIAA1109 chr4 123121953 124006046 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5 chr4 123124159 123125159 Gain Chordoma References 21215367 KIAA1109 chr4 123150438 123966934 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5 chr4 123150659 123150759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1109 chr4 123158040 123212216 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1109 chr4 123158585 123158685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA1109 chr4 123182056 123777692 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109 chr4 123194329 123801280 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109 chr4 1232001 1309500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CTBP1,CTBP1-AS1,MAEA chr4 123206522 124506523 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5,SPRY1 chr4 123210551 123210626 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1109 chr4 123214777 130260982 Loss Developmental delay affymetrix genechip 500K/SNP 6.22 array 21147756 ADAD1,ANKRD50,BBS12,C4orf29,C4orf33,CETN4P,FAT4,FGF2,HSPA4L,IL2,IL21,INTU,KIAA1109,LARP1B,LOC285419,MFSD8,MIR2054,NUDT6,PGRMC2,PHF17,PLK4,SCLT1,SLC25A31,SPATA5,SPRY1 chr4 123218445 123218923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1109 chr4 123228118 123228416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA1109 chr4 123228441 123801280 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109 chr4 123229253 123989335 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5 chr4 123229253 124003791 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5 chr4 123237941 123774259 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109 chr4 123241047 123800244 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109 chr4 123241047 123831887 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6 chr4 123241047 124340648 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5,SPRY1 chr4 123241047 124491424 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5,SPRY1 chr4 123247288 124003791 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,NUDT6,SPATA5 chr4 123263567 124606969 LOH Normal High-resolution SNP genotyping 21211785 ADAD1,BBS12,CETN4P,FGF2,IL2,IL21,KIAA1109,LOC285419,NUDT6,SPATA5,SPRY1 chr4 123292938 123503357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAD1,IL2 chr4 123292938 123503357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAD1,IL2 chr4 123336528 123336628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAD1 chr4 123366273 123366571 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1234007 1236446 Gain and loss Pancreatic cancer SNP array 17952125 CTBP1 chr4 123413519 124420444 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BBS12,CETN4P,FGF2,IL21,NUDT6,SPATA5,SPRY1 chr4 123413519 124420444 Copy number gain Normal High-resolution SNP genotyping 21211785 BBS12,CETN4P,FGF2,IL21,NUDT6,SPATA5,SPRY1 chr4 123413907 124423811 Allelic imbalance Normal High-resolution SNP genotyping 21211785 BBS12,CETN4P,FGF2,IL21,NUDT6,SPATA5,SPRY1 chr4 123413907 124423811 Copy number gain Normal High-resolution SNP genotyping 21211785 BBS12,CETN4P,FGF2,IL21,NUDT6,SPATA5,SPRY1 chr4 1234177 1236616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTBP1 chr4 1234177 1236616 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 CTBP1 chr4 1234177 1236616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTBP1 chr4 123445332 123445432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123449408 123518689 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 123462021 123462145 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 123467393 123467493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123509446 123509546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123519618 123570407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IL21 chr4 123519618 123570407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IL21 chr4 123529166 123641510 Gain and loss Pancreatic cancer SNP array 17952125 IL21 chr4 123571976 123578438 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 123571976 123578980 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 123572560 123578438 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 123592075 123597100 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 123592075 123597100 Gain or loss Cancer - 20668451 NOT_FOUND chr4 123592075 123597100 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 123592075 123597100 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 123592075 123597100 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 123592075 123597100 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 123592080 123597100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 123592080 123597100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 123607737 123641857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 123630894 123631873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 123646051 123646151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 123657773 123708544 Gain and loss Pancreatic cancer SNP array 17952125 BBS12 chr4 123670669 123674982 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 123671085 123677302 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 1237014 1245277 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 CTBP1,CTBP1-AS1 chr4 123730233 123735494 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1237307 123885548 Copy number Autism exome sequencing 22495311 AASDH,ABCG2,ABLIM2,ACOX3,ADAD1,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC4,ANK2,ANKRD17,ANTXR2,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ATOH1,ATP10D,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf3,C4orf32,C4orf34,C4orf36,C4orf40,C4orf48,C4orf52,C4orf6,CABS1,CAMK2D,CASP6,CC2D2A,CCDC109B,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CD38,CDKL2,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPEB2,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCK,DCUN1D4,DDIT4L,DEFB131,DHX15,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,EGF,EIF4E,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,EPGN,EPHA5,EREG,ERVMER34-1,EVC,EVC2,EXOC1,EXOSC9,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM175A,FAM184B,FAM190A,FAM193A,FAM200B,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FBXL5,FDCSP,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ39653,FRAS1,FRYL,FTLP10,G3BP2,GABRA2,GABRA4,GABRB1,GABRG1,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GNPDA2,GNRHR,GPR125,GPR78,GPRIN3,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUF1,H2AFZ,HADH,HAUS3,HELQ,HERC3,HERC5,HERC6,HGFAC,HMX1,HNRNPD,HNRPDL,HOPX,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AB2P,HSP90AB3P,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IGFBP7,IGJ,IL2,IL21,IL8,INTS12,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA1109,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,KLHL8,LAMTOR3,LAP3,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00575,LNX1,LNX1-AS1,LNX1-AS2,LOC100129931,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505702,LOC100505875,LOC100505912,LOC100506035,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC401134,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LPHN3,LRIT3,LRPAP1,LRRC66,LYAR,MAD2L1,MAEA,MAN2B2,MANBA,MAPK10,MED28,MEPE,METAP1,METTL14,MFSD10,MIR1243,MIR1973,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR367,MIR3684,MIR378D1,MIR4274,MIR4275,MIR4449,MIR4450,MIR4451,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR943,MMRN1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSX1,MTHFD2L,MTTP,MUC7,MXD4,MYOZ2,N4BP2,NAA11,NAAA,NAP1L5,NAT8L,NCAPG,NDNF,NDST3,NDST4,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,OSTC,OTOP1,PACRGL,PAICS,PAPSS1,PAQR3,PARM1,PCDH7,PCNAP1,PDCL2,PDE5A,PDGFRA,PDHA2,PDLIM5,PDS5A,PF4,PF4V1,PGM2,PHOX2B,PI4K2B,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,POLN,POLR2B,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PROL1,PROM1,PRSS12,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAP1GDS1,RASGEF1B,RASL11B,RASSF6,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RRH,RUFY3,S100P,SCARB2,SCARNA22,SCD5,SCFD2,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SGCB,SGMS2,SH3BP2,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC9B1,SLC9B2,SLIT2,SLIT2-IT1,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SOD3,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA5,SPINK2,SPP1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBCK,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TLR1,TLR10,TLR6,TMEM128,TMEM129,TMEM150C,TMEM155,TMEM156,TMEM165,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRMT10A,TRMT44,TRPC3,TSPAN5,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP46,USP53,UTP3,UVSSA,WDFY3,WDFY3-AS2,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF518B chr4 123743085 124509433 LOH Normal High-resolution SNP genotyping 21211785 FGF2,NUDT6,SPATA5,SPRY1 chr4 123747862 123819377 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 FGF2,NUDT6 chr4 123753221 123761662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGF2 chr4 123753221 123761662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGF2 chr4 123769218 123769297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF2 chr4 123774157 125287719 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FGF2,LOC285419,NUDT6,SPATA5,SPRY1 chr4 123799911 123800001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGF2 chr4 123800000 128800000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 ANKRD50,FAT4,FGF2,HSPA4L,INTU,LOC285419,MIR2054,NUDT6,SLC25A31,SPATA5,SPRY1 chr4 123800000 139500000 Amplification Hepatocellular carcinoma Array CGH 16750200 ANKRD50,C4orf29,C4orf33,FAT4,FGF2,HSPA4L,INTU,LARP1B,LINC00499,LINC00616,LOC285419,MFSD8,MIR2054,NUDT6,PABPC4L,PCDH10,PCDH18,PGRMC2,PHF17,PLK4,SCLT1,SLC25A31,SLC7A11,SLC7A11-AS1,SPATA5,SPRY1 chr4 123800000 139500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ANKRD50,C4orf29,C4orf33,FAT4,FGF2,HSPA4L,INTU,LARP1B,LINC00499,LINC00616,LOC285419,MFSD8,MIR2054,NUDT6,PABPC4L,PCDH10,PCDH18,PGRMC2,PHF17,PLK4,SCLT1,SLC25A31,SLC7A11,SLC7A11-AS1,SPATA5,SPRY1 chr4 123800000 170100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCE1,ANAPC10,ANKRD50,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASIC5,C4orf29,C4orf33,C4orf45,C4orf46,C4orf51,CBR4,CCRN4L,CLGN,CPE,CTSO,DCHS2,DCLK2,DDX60,DDX60L,DKFZP434I0714,EDNRA,ELF2,ELMOD2,ETFDH,FAM160A1,FAM198B,FAM218A,FAT4,FBXW7,FGA,FGB,FGF2,FGG,FHDC1,FNIP2,FREM3,FSTL5,GAB1,GK3P,GLRB,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HHIP,HHIP-AS1,HSPA4L,IL15,INPP4B,INTU,KIAA0922,KLHL2,LARP1B,LINC00499,LINC00616,LOC100129858,LOC100505545,LOC100505989,LOC100506013,LOC285419,LOC340017,LRAT,LRBA,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFSD8,MGARP,MGST2,MIR2054,MIR3140,MIR3688-1,MIR3688-2,MIR4453,MIR4799,MIR5684,MIR578,MMAA,MND1,MSMO1,NAA15,NAF1,NDUFC1,NPY1R,NPY2R,NPY5R,NR3C2,NUDT6,OTUD4,PABPC4L,PALLD,PCDH10,PCDH18,PDGFC,PET112,PGRMC2,PHF17,PLK4,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RXFP1,SCLT1,SCOC,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A31,SLC7A11,SLC7A11-AS1,SMAD1,SMARCA5,SNORD73A,SPATA5,SPOCK3,SPRY1,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRIM2,TRIM60,TRIM61,TTC29,UCP1,USP38,ZNF330,ZNF827 chr4 123831739 123836428 Amplification or deletion Cancer Array CGH 17440070 NUDT6 chr4 123858680 123858780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA5 chr4 123871153 123872798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA5 chr4 123873307 123885547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATA5 chr4 123873307 123885547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA5 chr4 123883878 123883895 Deletion Medulloblastoma Illumina SNP arrays 21163964 SPATA5 chr4 123891376 123899817 Gain and loss Pancreatic cancer SNP array 17952125 SPATA5 chr4 123901112 124499644 LOH Normal High-resolution SNP genotyping 21211785 SPATA5,SPRY1 chr4 123901112 124769109 LOH Normal High-resolution SNP genotyping 21211785 LOC285419,SPATA5,SPRY1 chr4 123904388 191133958 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANKRD50,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf29,C4orf33,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CCRN4L,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CLGN,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,ELF2,ELMOD2,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FAT4,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FREM3,FRG1,FRG2,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,HSPA4L,IL15,ING2,INPP4B,INTU,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LARP1B,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285419,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1305,MIR2054,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAA15,NAF1,NBLA00301,NDUFC1,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PABPC4L,PALLD,PCDH10,PCDH18,PDGFC,PDLIM3,PET112,PGRMC2,PHF17,PLK4,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCLT1,SCOC,SCRG1,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A31,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNORD73A,SNX25,SORBS2,SPATA4,SPATA5,SPCS3,SPOCK3,SPRY1,STOX2,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UCP1,UFSP2,USP38,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 123948690 123948790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA5 chr4 123967313 124038840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATA5 chr4 123967313 124038840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA5 chr4 123982347 124636800 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC285419,SPATA5,SPRY1 chr4 123991902 124606883 LOH Normal High-resolution SNP genotyping 21211785 LOC285419,SPATA5,SPRY1 chr4 124000000 129100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD50,C4orf29,FAT4,HSPA4L,INTU,LARP1B,LOC285419,MFSD8,MIR2054,PLK4,SLC25A31,SPATA5,SPRY1 chr4 124000000 129100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANKRD50,C4orf29,FAT4,HSPA4L,INTU,LARP1B,LOC285419,MFSD8,MIR2054,PLK4,SLC25A31,SPATA5,SPRY1 chr4 124000000 139500000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 ANKRD50,C4orf29,C4orf33,FAT4,HSPA4L,INTU,LARP1B,LINC00499,LINC00616,LOC285419,MFSD8,MIR2054,PABPC4L,PCDH10,PCDH18,PGRMC2,PHF17,PLK4,SCLT1,SLC25A31,SLC7A11,SLC7A11-AS1,SPATA5,SPRY1 chr4 124000000 191000000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANKRD50,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf29,C4orf33,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CCRN4L,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CLGN,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,ELF2,ELMOD2,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FAT4,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FREM3,FRG1,FRG2,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,HSPA4L,IL15,ING2,INPP4B,INTU,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LARP1B,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285419,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1305,MIR2054,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAA15,NAF1,NBLA00301,NDUFC1,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PABPC4L,PALLD,PCDH10,PCDH18,PDGFC,PDLIM3,PET112,PGRMC2,PHF17,PLK4,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCLT1,SCOC,SCRG1,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A31,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNORD73A,SNX25,SORBS2,SPATA4,SPATA5,SPCS3,SPOCK3,SPRY1,STOX2,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UCP1,UFSP2,USP38,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 124003791 124553444 LOH Normal High-resolution SNP genotyping 21211785 SPATA5,SPRY1 chr4 124011462 124023702 Gain and loss Pancreatic cancer SNP array 17952125 SPATA5 chr4 124022831 124022931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA5 chr4 124033256 124063573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPATA5 chr4 124033256 124063573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA5 chr4 124040811 124040963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPATA5 chr4 124056726 124114142 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 SPATA5 chr4 124058313 124587714 LOH Normal High-resolution SNP genotyping 21211785 LOC285419,SPATA5,SPRY1 chr4 124063675 124460050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA5,SPRY1 chr4 124063679 124455252 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPATA5,SPRY1 chr4 12407803 12407889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 124105468 124176995 Gain and loss Pancreatic cancer SNP array 17952125 SPATA5 chr4 124144298 124144330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPATA5 chr4 124148177 124148268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPATA5 chr4 124171411 124201728 Gain and loss Pancreatic cancer SNP array 17952125 SPATA5 chr4 124201834 124593407 Gain and loss Pancreatic cancer SNP array 17952125 LOC285419,SPATA5,SPRY1 chr4 124254501 124256000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 124272877 124272917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124275406 124275845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 124281064 124281146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124292618 124292693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124312804 124312904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124339178 124339278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124382480 124427369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 124411802 124412945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 124476501 124477500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 124512558 124512658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124529643 131806047 Substitutions and indels small cell lung cancer array-CGH 20016488 ANKRD50,C4orf29,C4orf33,FAT4,HSPA4L,INTU,LARP1B,LOC285419,MFSD8,MIR2054,PGRMC2,PHF17,PLK4,SCLT1,SLC25A31 chr4 124537405 124544359 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 124537405 124544359 Gain or loss Cancer - 20668451 NOT_FOUND chr4 124537405 124544359 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 124537405 124544359 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 124537405 124544359 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 124537405 124544359 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 124537406 124544357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 124537406 124544357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 124538001 124540000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 124541247 124541317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124568831 125736952 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 ANKRD50,LOC285419 chr4 124579773 124579850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285419 chr4 124637182 125471657 LOH Normal High-resolution SNP genotyping 21211785 LOC285419 chr4 124658297 124658397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285419 chr4 124659784 124659831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285419 chr4 124675561 124682512 Gain and loss Pancreatic cancer SNP array 17952125 LOC285419 chr4 124675880 190806562 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANKRD50,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf29,C4orf33,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CCRN4L,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CLGN,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,EDNRA,ELF2,ELMOD2,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FAT4,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FREM3,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,HSPA4L,IL15,ING2,INPP4B,INTU,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LARP1B,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285419,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1305,MIR2054,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAA15,NAF1,NBLA00301,NDUFC1,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PABPC4L,PALLD,PCDH10,PCDH18,PDGFC,PDLIM3,PET112,PGRMC2,PHF17,PLK4,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCLT1,SCOC,SCRG1,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A31,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNORD73A,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UCP1,UFSP2,USP38,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 1 247249719 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 AADAT,AASDH,ABCA11P,ABCE1,ABCG2,ABLIM2,ACOX3,ACSL1,ADAD1,ADAM29,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf48,C4orf51,C4orf52,C4orf6,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DEFB131,DGKQ,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EVC,EVC2,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM193A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPR78,GPRIN3,GRIA2,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HAUS3,HELQ,HELT,HERC3,HERC5,HERC6,HGFAC,HHIP,HHIP-AS1,HMGB2,HMX1,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288255,LOC100288520,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285441,LOC285484,LOC285501,LOC285540,LOC285547,LOC285548,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728175,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC731424,LOC93622,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRPAP1,LRRC66,LSM6,LYAR,MAB21L2,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD10,MFSD7,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR378D1,MIR3945,MIR4274,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4798,MIR4799,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5684,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR578,MIR943,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSMO1,MSX1,MTHFD2L,MTNR1A,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NAT8L,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTOP1,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLN,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF175,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,S100P,SAP30,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3BP2,SH3D19,SH3RF1,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STOX2,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMED11P,TMEM128,TMEM129,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM175,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRMT44,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP38,USP46,USP53,UTP3,UVSSA,VEGFC,WDFY3,WDFY3-AS2,WDR1,WDR17,WDR19,WFS1,WHSC1,WHSC2,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFP42,ZFYVE28,ZNF141,ZNF330,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF827,ZNF876P chr4 124791707 125867416 LOH Normal High-resolution SNP genotyping 21211785 ANKRD50,LOC285419 chr4 124798009 124798109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285419 chr4 124809766 124809866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285419 chr4 124828652 124828752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285419 chr4 124842107 125774474 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANKRD50,LOC285419 chr4 124858737 124858769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124915610 124915710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124918239 124921533 Loss Normal 244K array 17666407 NOT_FOUND chr4 124940847 124940947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124947033 124947232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124947123 124947218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124947218 124947418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 124955434 124955556 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 124986318 124986418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 125016804 149134058 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCE1,ANAPC10,ANKRD50,ARHGAP10,C4orf29,C4orf33,C4orf51,CCRN4L,CLGN,EDNRA,ELF2,ELMOD2,FAT4,FREM3,GAB1,GUSBP5,GYPA,GYPB,GYPE,HHIP,HHIP-AS1,HSPA4L,IL15,INPP4B,INTU,LARP1B,LINC00499,LINC00616,LOC100129858,LOC100505545,LSM6,MAML3,MFSD8,MGARP,MGST2,MIR2054,MIR4799,MMAA,NAA15,NDUFC1,NR3C2,OTUD4,PABPC4L,PCDH10,PCDH18,PGRMC2,PHF17,PLK4,POU4F2,PRMT10,RAB33B,RNF150,SCLT1,SCOC,SETD7,SLC10A7,SLC25A31,SLC7A11,SLC7A11-AS1,SMAD1,SMARCA5,TBC1D9,TMEM184C,TTC29,UCP1,USP38,ZNF330,ZNF827 chr4 125123419 125123513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 125161201 125166600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 125163003 125164636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 125178567 125178636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 12518932 12519032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 125190507 126521903 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 ANKRD50,FAT4,MIR2054 chr4 125203103 125203592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 125295561 125295604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 125341231 125341747 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 125464430 125464530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 125473236 125492353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 125576352 125577725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 125585205 125593586 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 ANKRD50 chr4 125634300 125634399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 125649248 125694876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 125657437 128956949 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C4orf29,FAT4,HSPA4L,INTU,MFSD8,MIR2054,PLK4,SLC25A31 chr4 125714507 125715110 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 125720683 125720745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 125744680 125744780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 125804915 125853337 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr4 125804916 125851382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 125804916 125851382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 125883941 126970823 LOH Normal High-resolution SNP genotyping 21211785 FAT4,MIR2054 chr4 125891189 125891507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 125893225 135358957 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 C4orf29,C4orf33,FAT4,HSPA4L,INTU,LARP1B,MFSD8,MIR2054,PABPC4L,PCDH10,PGRMC2,PHF17,PLK4,SCLT1,SLC25A31 chr4 125946192 125989280 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 125971638 125971738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 126078862 126078929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 126086812 126087140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 126105551 126140770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 126120586 126120686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 126239742 126239842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT4 chr4 126322743 126323298 Gain and loss Pancreatic cancer SNP array 17952125 FAT4 chr4 126399342 126399442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT4 chr4 1 26441706 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-452K arrays 21546498 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,LAP3,LCORL,LDB2,LETM1,LGI2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCGF3,PDE6B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RBPJ,RGS12,RNF212,RNF4,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 126457001 126458500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 126457004 126633537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 126457004 126633537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 126498722 126498822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 126503201 126503301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 126503424 126503534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 126595235 126599407 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 126631079 126663594 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 126631782 126663594 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 126641579 126641687 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 126641580 126641685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 126661645 126662237 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 NOT_FOUND chr4 126672562 126672612 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 126672696 126770548 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 126680950 126681050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 126729821 127458502 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 126821786 126824034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 126826876 126826970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 12682912 13882292 LOH Normal High-resolution SNP genotyping 21211785 BOD1L1,HSP90AB2P,LOC285547,LOC285548,MIR5091,NKX3-2,RAB28 chr4 126835433 128014008 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 127002363 127002977 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 127020795 127020884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 27137712 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-450K arrays 21546498 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,LAP3,LCORL,LDB2,LETM1,LGI2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCGF3,PDE6B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RBPJ,RGS12,RNF212,RNF4,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TBC1D19,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 127185256 127185356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127220662 127220762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127307129 127307229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127322078 127322178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127339343 127339436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 12734822 12767184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 1273502 1323754 Gain and loss Pancreatic cancer SNP array 17952125 MAEA chr4 1273672 1323924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAEA chr4 1273672 1323924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAEA chr4 1273672 1323925 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 MAEA chr4 127473209 127473320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 127489982 129824357 LOH Normal High-resolution SNP genotyping 21211785 C4orf29,HSPA4L,INTU,LARP1B,MFSD8,PGRMC2,PHF17,PLK4,SCLT1,SLC25A31 chr4 127514946 127515046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127558451 127558529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 12762713 12781293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 127635862 127635951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127637129 127637203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127645451 127645551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127668724 128690937 LOH Normal High-resolution SNP genotyping 21211785 INTU,SLC25A31 chr4 127674003 129490712 LOH Normal High-resolution SNP genotyping 21211785 C4orf29,HSPA4L,INTU,LARP1B,MFSD8,PGRMC2,PLK4,SLC25A31 chr4 127753635 127787521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 12778853 12778936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127833834 128035596 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 127842251 127843536 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 127859335 127859435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 127859824 127860141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 127922690 129534126 LOH Normal High-resolution SNP genotyping 21211785 C4orf29,HSPA4L,INTU,LARP1B,MFSD8,PGRMC2,PLK4,SLC25A31 chr4 127930783 130912088 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 C4orf29,C4orf33,HSPA4L,INTU,LARP1B,MFSD8,PGRMC2,PHF17,PLK4,SCLT1,SLC25A31 chr4 127959245 127959338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1279727 1635346 Gain and loss Pancreatic cancer SNP array 17952125 CRIPAK,MAEA,UVSSA chr4 128070279 128070379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 128113168 129616350 LOH Normal High-resolution SNP genotyping 21211785 C4orf29,HSPA4L,INTU,LARP1B,MFSD8,PGRMC2,PLK4,SLC25A31 chr4 128118107 128118187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 128154977 128155072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 128168712 128168824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 128220895 128738410 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HSPA4L,INTU,SLC25A31 chr4 128236320 128236420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 128306869 128306979 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 128306870 128306978 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 128329186 128541282 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr4 128335416 128335516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 128654944 128655024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC25A31 chr4 128699001 128701000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 128710477 128710577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPA4L chr4 128720001 128722500 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSPA4L chr4 128729554 128729649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPA4L chr4 128733729 128733829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSPA4L chr4 128763501 128764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 128773569 128857380 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 MFSD8,PLK4 chr4 128773570 128857374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MFSD8,PLK4 chr4 128773570 128857374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MFSD8,PLK4 chr4 128800000 131100000 Loss Gastric cancer Array CGH 16891809 C4orf29,C4orf33,LARP1B,MFSD8,PGRMC2,PHF17,PLK4,SCLT1 chr4 128800000 139500000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 C4orf29,C4orf33,LARP1B,LINC00499,LINC00616,MFSD8,PABPC4L,PCDH10,PCDH18,PGRMC2,PHF17,PLK4,SCLT1,SLC7A11,SLC7A11-AS1 chr4 128871024 128914896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf29,MFSD8 chr4 128871024 128914896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf29,MFSD8 chr4 128911717 128995529 Gain and loss Pancreatic cancer SNP array 17952125 C4orf29,LARP1B chr4 1289129 6969581 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ADD1,ADRA2C,BLOC1S4,C4orf48,C4orf6,CRIPAK,CRMP1,CYTL1,DOK7,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FLJ35424,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,JAKMIP1,KIAA0232,LETM1,LOC100133461,LOC100507266,LOC285484,LOC402160,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MIR378D1,MIR4800,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,POLN,PPP2R2C,RGS12,RNF4,S100P,SCARNA22,SH3BP2,SLBP,STK32B,STX18,TACC3,TBC1D14,TMEM128,TMEM129,TNIP2,UVSSA,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28 chr4 128922001 128923500 Copy number Normal ReadDepth: A Parallel R Package 21305028 C4orf29 chr4 128922040 128924094 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C4orf29 chr4 128922903 128973974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf29 chr4 128922903 128973974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf29 chr4 128923838 128926604 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 C4orf29 chr4 128981289 128981388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 129009179 129053051 Gain and loss Pancreatic cancer SNP array 17952125 LARP1B chr4 129021495 129039800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARP1B chr4 129021495 129039800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARP1B chr4 129061027 129106554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARP1B chr4 129061027 129106554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARP1B chr4 129061058 129112129 Gain and loss Pancreatic cancer SNP array 17952125 LARP1B chr4 129091478 129091960 Gain and loss Pancreatic cancer SNP array 17952125 LARP1B chr4 129100000 131300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 C4orf33,LARP1B,PGRMC2,PHF17,SCLT1 chr4 129100000 131300000 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 C4orf33,LARP1B,PGRMC2,PHF17,SCLT1 chr4 129104501 129106500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LARP1B chr4 129105885 129176928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LARP1B chr4 129105885 129176928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LARP1B chr4 129149253 129149326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 129159706 129177532 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 129199182 129244709 Gain and loss Pancreatic cancer SNP array 17952125 PGRMC2 chr4 12920050 12920114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 129201953 129362995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PGRMC2 chr4 129201953 129362995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PGRMC2 chr4 129244166 129310050 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 129254782 129254867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 129273948 129274048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 129340072 129501685 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 129347780 129348343 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 129409847 129429434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 129409847 129429434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 12944136 12949024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 12944136 12949024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 129507316 129507416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 129548016 129566550 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 129586628 129638423 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 12959459 96181870 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 AASDH,ABCG2,ADAMTS3,AFF1,AFM,AFP,AGPAT9,ALB,AMBN,AMTN,ANAPC4,ANKRD17,ANTXR2,ANXA3,APBB2,ARAP2,AREG,ARHGAP24,ARL9,ART3,ATOH1,ATP10D,ATP8A1,BEND4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf19,C4orf22,C4orf26,C4orf34,C4orf36,C4orf40,C4orf52,CABS1,CC2D2A,CCDC149,CCDC158,CCKAR,CCNG2,CCNI,CD38,CDKL2,CDS1,CENPC1,CEP135,CHIC2,CHRNA9,CLOCK,CLRN2,CNGA1,CNOT6L,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPEB2,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,DANCR,DCAF16,DCAF4L1,DCK,DCUN1D4,DHX15,DMP1,DSPP,DTHD1,ENAM,ENOPH1,EPGN,EPHA5,EREG,ERVMER34-1,EXOC1,FAM114A1,FAM13A,FAM13A-AS1,FAM175A,FAM184B,FAM190A,FAM200B,FAM47E,FAM47E-STBD1,FBXL5,FDCSP,FGF5,FGFBP1,FGFBP2,FIP1L1,FLJ13197,FLJ39653,FRAS1,FRYL,FTLP10,G3BP2,GABRA2,GABRA4,GABRB1,GABRG1,GBA3,GC,GDEP,GK2,GNPDA2,GNRHR,GPR125,GPRIN3,GRID2,GRSF1,GRXCR1,GSX2,GUF1,HELQ,HERC3,HERC5,HERC6,HNRNPD,HNRPDL,HOPX,HPGDS,HPSE,HSD17B11,HSD17B13,HSP90AB2P,HSP90AB3P,HTN1,HTN3,IBSP,IGFBP7,IGJ,IL8,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,KLHL8,LAP3,LCORL,LDB2,LGI2,LIAS,LIMCH1,LIN54,LINC00575,LNX1,LNX1-AS1,LNX1-AS2,LOC100144602,LOC100505702,LOC100505875,LOC100505912,LOC100506035,LOC100506746,LOC152578,LOC152742,LOC255130,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC401134,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC728040,LPHN3,LRRC66,MAPK10,MED28,MEPE,MIR218-1,MIR4275,MIR4449,MIR4450,MIR4451,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR5705,MIR573,MIR574,MIR575,MMRN1,MOB1B,MRPL1,MRPS18C,MTHFD2L,MUC7,N4BP2,NAA11,NAAA,NAP1L5,NCAPG,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NPFFR2,NSUN7,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,PACRGL,PAICS,PAQR3,PARM1,PCDH7,PDCL2,PDGFRA,PDLIM5,PDS5A,PF4,PF4V1,PGM2,PHOX2B,PI4K2B,PIGY,PKD2,PLAC8,POLR2B,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPM1K,PRDM8,PRKG2,PROL1,PROM1,PTPN13,PTTG2,PYURF,QDPR,RAB28,RASGEF1B,RASL11B,RASSF6,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RHOH,RPL21P44,RPL9,RUFY3,SCARB2,SCD5,SCFD2,SDAD1,SEC31A,SEL1L3,SEPSECS,SEPT11,SGCB,SHISA3,SHROOM3,SLAIN2,SLC10A4,SLC10A6,SLC30A9,SLC34A2,SLC4A4,SLIT2,SLIT2-IT1,SMARCAD1,SMR3A,SMR3B,SNCA,SNORA26,SOD3,SOWAHB,SPARCL1,SPATA18,SPINK2,SPP1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,SULT1B1,SULT1E1,SYT14L,TAPT1,TBC1D1,TBC1D19,TEC,TECRL,THAP6,THAP9,THAP9-AS1,THEGL,TIGD2,TLR1,TLR10,TLR6,TMEM150C,TMEM156,TMEM165,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TXK,UBA6,UBE2K,UCHL1,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UNC5C,USO1,USP46,UTP3,WDFY3,WDFY3-AS2,WDR19,YIPF7,YTHDC1,ZAR1,ZCCHC4 chr4 129599317 129637586 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 129616077 129651062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 129684 141875917 Loss or gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 AASDH,ABCA11P,ABCG2,ABLIM2,ACOX3,ADAD1,ADAMTS3,ADD1,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,ADRA2C,AFAP1,AFAP1-AS1,AFF1,AFM,AFP,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC4,ANK2,ANKRD17,ANKRD50,ANTXR2,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ATOH1,ATP10D,ATP5I,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BLOC1S4,BMP2K,BMP3,BMPR1B,BOD1L1,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf48,C4orf52,C4orf6,CABS1,CAMK2D,CASP6,CC2D2A,CCDC109B,CCDC149,CCDC158,CCDC96,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLGN,CLNK,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTBP1,CTBP1-AS1,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYTL1,DANCR,DAPP1,DCAF16,DCAF4L1,DCK,DCUN1D4,DDIT4L,DEFB131,DGKQ,DHX15,DKK2,DMP1,DNAJB14,DOK7,DRD5,DSPP,DTHD1,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,EPGN,EPHA5,EREG,ERVMER34-1,EVC,EVC2,EXOC1,EXOSC9,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM175A,FAM184B,FAM190A,FAM193A,FAM200B,FAM47E,FAM47E-STBD1,FAM53A,FAM86EP,FAT4,FBXL5,FDCSP,FGF2,FGF5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ35424,FLJ36777,FLJ39653,FRAS1,FRYL,FTLP10,G3BP2,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GNPDA2,GNRHR,GPR125,GPR78,GPRIN3,GRID2,GRK4,GRPEL1,GRSF1,GRXCR1,GSTCD,GSX2,GUF1,H2AFZ,HADH,HAUS3,HELQ,HERC3,HERC5,HERC6,HGFAC,HMX1,HNRNPD,HNRPDL,HOPX,HPGDS,HPSE,HS3ST1,HSD17B11,HSD17B13,HSP90AB2P,HSP90AB3P,HSPA4L,HTN1,HTN3,HTRA3,HTT,HTT-AS1,IBSP,IDUA,IGFBP7,IGJ,IL2,IL21,IL8,INTS12,INTU,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA1109,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,KLHL8,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LETM1,LGI2,LIAS,LIMCH1,LIN54,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505702,LOC100505875,LOC100505912,LOC100506035,LOC100506746,LOC100507053,LOC100507266,LOC152578,LOC152742,LOC255130,LOC256880,LOC285419,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC401134,LOC402160,LOC441009,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC650293,LOC728040,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LPHN3,LRIT3,LRPAP1,LRRC66,LYAR,MAD2L1,MAEA,MAML3,MAN2B2,MANBA,MAPK10,MED28,MEPE,METAP1,METTL14,MFSD10,MFSD7,MFSD8,MGARP,MGST2,MIR1243,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3138,MIR367,MIR3684,MIR378D1,MIR4274,MIR4275,MIR4449,MIR4450,MIR4451,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR5705,MIR572,MIR573,MIR574,MIR575,MIR577,MIR943,MMRN1,MOB1B,MRFAP1,MRFAP1L1,MRPL1,MRPS18C,MSANTD1,MSX1,MTHFD2L,MTTP,MUC7,MXD4,MYL5,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAP1L5,NAT8L,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX3-2,NKX6-1,NMU,NOA1,NOP14,NOP14-AS1,NPFFR2,NPNT,NSG1,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,OSTC,OTOP1,PABPC4L,PACRGL,PAICS,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCGF3,PCNAP1,PDCL2,PDE5A,PDE6B,PDGFRA,PDHA2,PDLIM5,PDS5A,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGG,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,POLN,POLR2B,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPM1K,PPP2R2C,PPP3CA,PRDM5,PRDM8,PRKG2,PROL1,PROM1,PRSS12,PSAPL1,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB28,RAB33B,RAP1GDS1,RASGEF1B,RASL11B,RASSF6,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RGS12,RHOH,RNF150,RNF212,RNF4,RPL21P44,RPL34,RPL34-AS1,RPL9,RRH,RUFY3,S100P,SCARB2,SCARNA22,SCD5,SCFD2,SCLT1,SCOC,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SGCB,SGMS2,SH3BP2,SH3TC1,SHISA3,SHROOM3,SLAIN2,SLBP,SLC10A4,SLC10A6,SLC25A31,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLIT2,SLIT2-IT1,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SOD3,SORCS2,SOWAHB,SPARCL1,SPATA18,SPATA5,SPINK2,SPON2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STK32B,STPG2,STX18,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACC3,TACR3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TBC1D9,TBCK,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM150C,TMEM155,TMEM156,TMEM165,TMEM175,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TNIP3,TRAM1L1,TRMT10A,TRMT44,TRPC3,TSPAN5,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP17,USP17L5,USP17L6P,USP46,USP53,UTP3,UVSSA,WDFY3,WDFY3-AS2,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF718,ZNF721,ZNF732,ZNF876P chr4 129689497 129689597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 129774971 129774971 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 PHF17 chr4 129774971 129774971 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 PHF17 chr4 129782802 129782902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PHF17 chr4 12978447 13095060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 12978447 13095060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 12981329 12981429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 129896631 129896732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCLT1 chr4 129950229 130015829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf33,SCLT1 chr4 129950229 130015829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf33,SCLT1 chr4 129990411 130157607 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 C4orf33,SCLT1 chr4 130024601 130234214 Gain or loss Breast cancer - 20668451 C4orf33 chr4 130024601 130234214 Gain or loss Cancer - 20668451 C4orf33 chr4 130024601 130234214 Gain or loss Lung cancer - 20668451 C4orf33 chr4 130024601 130234214 Gain or loss Ovarian cancer - 20668451 C4orf33 chr4 130024601 130234214 Gain or loss Pancreas cancer - 20668451 C4orf33 chr4 130024601 130234214 Gain or loss Prostate cancer - 20668451 C4orf33 chr4 130024602 130234214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf33 chr4 130024602 130234214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf33 chr4 130034786 130034887 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 13006299 13039678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 130065906 130066102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130066001 130066063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1300747 1301037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MAEA chr4 130088575 130152016 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 130091141 130091241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130098368 130098468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130127367 130912305 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 130127367 130987009 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 130133777 130240619 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 130134973 130161564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 1301601 1301811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAEA chr4 130162992 130372367 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1301713 1301830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAEA chr4 130174155 130206817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 1301823 1301923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAEA chr4 1301860 1302045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAEA chr4 130194066 130194166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13019621 13304621 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 NOT_FOUND chr4 130205941 130206041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130219720 130219820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130234279 130253292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 130234279 130253292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 130281215 130294397 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 130285614 130287920 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 130288090 130288438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 13032599 13032654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130334400 130334500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130372445 130391413 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 130394530 130394594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 130411240 130415778 Gain Normal 244K array 17666407 NOT_FOUND chr4 130419947 130423096 Loss Normal 244K array 17666407 NOT_FOUND chr4 130421281 130421381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130424364 130426008 Gain Normal 244K array 17666407 NOT_FOUND chr4 130432088 130437806 Loss Normal 244K array 17666407 NOT_FOUND chr4 130434001 130441000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 130435950 130438932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 13045618 13162231 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 130500281 130502386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 130530124 130530224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130627026 130627121 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 130715019 130715084 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 130783164 130783264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130810371 130810661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 130828824 130861642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 130845825 130845904 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 130845911 130846098 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 130851848 130851948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 130890265 130890346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1309501 1316000 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAEA chr4 1 3100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Copy number Breast cancer - 21806811 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Copy number Wolf-Hirschhorn syndrome BAC array CGH platform 21549014 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Copy number Wolf-Hirschhorn syndrome MLPA 22283845 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Copy number Wolf-Hirschhorn syndrome Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Microdeletions or microduplications sporadic birth defects aCGH 19047251 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Microdeletion Wolf-Hirschhorn syndrome - 18541967 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 3100000 Microdeletion Wolf-Hirschhorn syndrome aCGH 22470819 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 131001025 131001105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 131001027 131001105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 131100000 139500000 Gain Mental retardation Array CGH 17847001 LINC00499,LINC00616,PABPC4L,PCDH10,PCDH18,SLC7A11,SLC7A11-AS1 chr4 131100000 139500000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 LINC00499,LINC00616,PABPC4L,PCDH10,PCDH18,SLC7A11,SLC7A11-AS1 chr4 131102557 131560102 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 131102557 131560102 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 131139180 131139260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 131155186 131155286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 131161247 131161347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 131181902 131182336 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 131219454 131219554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 131300000 139500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 LINC00499,LINC00616,PABPC4L,PCDH10,PCDH18,SLC7A11,SLC7A11-AS1 chr4 131300000 139500000 Copy number Normal - 21701786 LINC00499,LINC00616,PABPC4L,PCDH10,PCDH18,SLC7A11,SLC7A11-AS1 chr4 131300000 139500000 Deletion Autism from references 18923514 LINC00499,LINC00616,PABPC4L,PCDH10,PCDH18,SLC7A11,SLC7A11-AS1 chr4 131300000 139500000 Deletion Autism high-density microarrays 22241247 LINC00499,LINC00616,PABPC4L,PCDH10,PCDH18,SLC7A11,SLC7A11-AS1 chr4 131300000 139500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 LINC00499,LINC00616,PABPC4L,PCDH10,PCDH18,SLC7A11,SLC7A11-AS1 chr4 131300000 145000000 Deletion Mental retardation FISH 17901693 CCRN4L,CLGN,ELF2,ELMOD2,FREM3,GAB1,GUSBP5,GYPB,GYPE,IL15,INPP4B,LINC00499,LINC00616,LOC100129858,MAML3,MGARP,MGST2,NAA15,NDUFC1,PABPC4L,PCDH10,PCDH18,RAB33B,RNF150,SCOC,SETD7,SLC7A11,SLC7A11-AS1,SMARCA5,TBC1D9,UCP1,USP38,ZNF330 chr4 131300000 151000000 Deletion Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 ABCE1,ANAPC10,ARHGAP10,C4orf51,CCRN4L,CLGN,DCLK2,EDNRA,ELF2,ELMOD2,FREM3,GAB1,GUSBP5,GYPA,GYPB,GYPE,HHIP,HHIP-AS1,IL15,INPP4B,LINC00499,LINC00616,LOC100129858,LOC100505545,LSM6,MAML3,MGARP,MGST2,MIR4799,MMAA,NAA15,NDUFC1,NR3C2,OTUD4,PABPC4L,PCDH10,PCDH18,POU4F2,PRMT10,RAB33B,RNF150,SCOC,SETD7,SLC10A7,SLC7A11,SLC7A11-AS1,SMAD1,SMARCA5,TBC1D9,TMEM184C,TTC29,UCP1,USP38,ZNF330,ZNF827 chr4 13133001 13159000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 131366647 131386904 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 131406544 131406639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 131431464 131431578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 131482496 131482566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 13151552 13155212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 13151552 13155212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 13152908 13152991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 131570034 131611108 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 1316001 1335500 Copy number Normal ReadDepth: A Parallel R Package 21305028 MAEA chr4 131647275 131647380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 131664961 131665037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 131706435 131706535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 131746385 131852628 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr4 131746598 131746653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1317615 1317853 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 MAEA chr4 1317846 1317943 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 MAEA chr4 131785429 131785535 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 131785430 131785535 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 13179464 13238426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 13179464 13238426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 131811015 132789771 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr4 131830643 131830810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 131914276 131914524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 132076562 133123563 Loss Anaplastic thyroid cancer 33K microarrays 18753363 NOT_FOUND chr4 13218723 13222307 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132219682 132762927 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132237472 132237542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 32250707 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-442K arrays 21546498 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,LAP3,LCORL,LDB2,LETM1,LGI2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RBPJ,RGS12,RNF212,RNF4,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TBC1D19,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 132263867 132263967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 132282121 132762927 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132413847 132413953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 13242229 13272693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 13246635 13281053 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132477638 132499820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 132552002 132552108 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132581414 133288331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132602726 132603212 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132620605 134450226 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH10 chr4 132632497 132702567 Copy number Autism Illumina Humanhap300 Beadchips 19492091 NOT_FOUND chr4 132632497 132702567 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 13267220 13300291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 132677616 132716709 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132679180 132699989 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132709859 132713083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 132726081 133288331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132727394 133288331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132747622 132748042 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132794631 133120935 Substitutions and indels small cell lung cancer array-CGH 20016488 NOT_FOUND chr4 132800000 136700000 Gain Acute lymphoblastic leukemia - 21339820 PABPC4L,PCDH10 chr4 132801221 132938583 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 132801221 132961483 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 132801221 132961483 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 132801221 132992517 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 132801221 133046236 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 132803524 132992517 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 132805267 132816079 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 132808668 132992517 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 132819856 133100626 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr4 13282330 13305597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132860865 132861148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 132864001 132906000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 132871365 132916304 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 132906059 132906159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 132908862 132908950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 132919244 132919344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 132955042 133085203 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132955042 133085203 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132955042 133288331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132955042 133363089 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 132999020 132999303 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 132999869 133045278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 133011660 133047332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 133029799 133043034 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 133046900 133047032 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 133046903 133047003 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1331054 1371732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAEA,UVSSA chr4 1331054 1371732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAEA,UVSSA chr4 133107260 133107310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1331104 1371732 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 MAEA,UVSSA chr4 133114812 133288331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 133117643 133117844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133117721 133117821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133117839 133118043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133126011 134089167 Substitutions and indels small cell lung cancer array-CGH 20016488 PCDH10 chr4 133126158 181161226 Copy number Lung cancer paired-end sequencing 18438408 AADAT,ABCE1,ADAM29,AGA,ANAPC10,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf51,CBR4,CCRN4L,CEP44,CLCN3,CLGN,CPE,CTSO,DCHS2,DCLK2,DDX60,DDX60L,DKFZP434I0714,EDNRA,ELF2,ELMOD2,ETFDH,FAM160A1,FAM198B,FAM218A,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FNIP2,FREM3,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA6P,IL15,INPP4B,KIAA0922,KLHL2,LINC00499,LINC00616,LOC100129858,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC285501,LOC340017,LRAT,LRBA,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFAP3L,MGARP,MGST2,MIR3140,MIR3688-1,MIR3688-2,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MMAA,MND1,MSMO1,NAA15,NAF1,NBLA00301,NDUFC1,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,OTUD4,PABPC4L,PALLD,PCDH10,PCDH18,PDGFC,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RXFP1,SAP30,SCOC,SCRG1,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC7A11,SLC7A11-AS1,SMAD1,SMARCA5,SNORD73A,SPATA4,SPCS3,SPOCK3,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRIM2,TRIM60,TRIM61,TTC29,UCP1,USP38,VEGFC,WDR17,ZNF330,ZNF827 chr4 133136443 133136694 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 133162387 135280032 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PABPC4L,PCDH10 chr4 133319478 133319801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 133333490 133333807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 133334473 133334573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133391982 133392082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133393730 133402580 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr4 133393730 133402580 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 133398342 133402360 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 133459837 133459937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133474267 133474367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133488602 133521389 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 133511465 133655754 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 1335501 1342000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UVSSA chr4 133584921 133584997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 133593831 133593931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133615868 133615968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 133664882 133665151 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 133789062 133911766 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr4 133796057 133829113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 1338352 1370031 Gain and loss Pancreatic cancer SNP array 17952125 UVSSA chr4 133837301 133841500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 133839327 133839632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 133874928 133875028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13391078 13397443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAB28 chr4 133983530 134242899 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 PCDH10 chr4 134009914 134010246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 134039048 134039370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 134046817 134081084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCDH10 chr4 134070469 134112731 Copy number Autism ref 20964600 PCDH10 chr4 134077427 134086038 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCDH10 chr4 134081360 134081450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH10 chr4 134085000 134091092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH10 chr4 134089199 134134532 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCDH10 chr4 134096487 134225115 Substitutions and indels small cell lung cancer array-CGH 20016488 PCDH10 chr4 134181762 134181843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 134193392 134193477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1342001 1358000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UVSSA chr4 134213327 134213427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134229915 190258227 Substitutions and indels small cell lung cancer array-CGH 20016488 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CCRN4L,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CLGN,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,EDNRA,ELF2,ELMOD2,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FREM3,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA6P,IL15,ING2,INPP4B,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFAP3L,MGARP,MGC45800,MGST2,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAA15,NAF1,NBLA00301,NDUFC1,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PABPC4L,PALLD,PCDH18,PDGFC,PDLIM3,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCOC,SCRG1,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNORD73A,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UCP1,UFSP2,USP38,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 134289920 134332181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 134289920 134332181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 134291001 134293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 134297406 134297506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134301482 134331808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 134302365 134302471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 134316944 134317094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134350101 134354500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 134360444 145908257 Loss Developmental delay affymetrix genechip 500K/SNP 6.23 array 21147756 CCRN4L,CLGN,ELF2,ELMOD2,FREM3,GAB1,GUSBP5,GYPA,GYPB,GYPE,HHIP,HHIP-AS1,IL15,INPP4B,LINC00499,LINC00616,LOC100129858,MAML3,MGARP,MGST2,NAA15,NDUFC1,PABPC4L,PCDH18,RAB33B,RNF150,SCOC,SETD7,SLC7A11,SLC7A11-AS1,SMARCA5,TBC1D9,UCP1,USP38,ZNF330 chr4 134361053 134361361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 134392209 134392309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134428075 134452129 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 134440520 134440626 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 134514994 134515313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 134526725 136835957 Copy number gain Normal High-resolution SNP genotyping 21211785 PABPC4L chr4 134566226 134566348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1 34595607 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-463K arrays 21546498 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,LAP3,LCORL,LDB2,LETM1,LGI2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RBPJ,RGS12,RNF212,RNF4,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TBC1D19,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 134596196 134596425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134596308 134596408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134596419 134596621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134646069 134687378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 134680775 135567810 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PABPC4L chr4 134701461 134701539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 13470644 13470744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAB28 chr4 134848831 134848940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 134920000 138780000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 PABPC4L,PCDH18 chr4 134922234 134922334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134922369 134922469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13492326 13492418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 134929448 134929906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 134929718 134936494 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 134947721 134947806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13501267 15281298 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BOD1L1,CPEB2,LOC152742,LOC285547,LOC285548,LOC441009,MIR5091,NKX3-2 chr4 135035818 135035918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 135038290 135038389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 135042812 135077164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 135067603 135068061 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 135086764 135205135 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 PABPC4L chr4 135140571 135406410 Loss Autism Exome sequencing and CGH 22495309 NOT_FOUND chr4 135143484 135399644 Deletion Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 135143484 135407840 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 135143484 135407852 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 135162685 135399620 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 NOT_FOUND chr4 135174999 135175099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 135182516 135182616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 135185461 135185561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 135238956 135838060 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 135272766 135272841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 135302360 135302460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13544775 13546799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NKX3-2 chr4 135478682 135479749 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 135481517 138478960 Loss Urothelial carcinoma array CGH validated by FISH 21177765 PCDH18 chr4 135513552 135548036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 135636633 135655091 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 135650801 135656800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 135651720 135655126 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr4 135651720 135655126 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 135652234 135655091 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 135652234 135669302 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 135652234 135690519 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 135652400 135655171 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 135652453 135655146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1356539 1356672 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 UVSSA chr4 135655091 135668087 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 1356555 1356623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UVSSA chr4 135679554 136068705 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 1356972 1357072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UVSSA chr4 135710384 135710484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 135737399 135738718 Deletion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr4 135778696 135778796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1358001 1370000 Copy number Normal ReadDepth: A Parallel R Package 21305028 UVSSA chr4 13582560 13582631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BOD1L1 chr4 13588008 13588096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BOD1L1 chr4 135928655 135928755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 135948754 135948854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13594877 13594977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BOD1L1 chr4 136008284 136042283 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 136024930 136025029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13609266 13609366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BOD1L1 chr4 136098742 136105996 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 136133496 136133582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136140646 136140745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136146987 136147307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 136167195 136539097 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 136167195 139935862 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00499,LINC00616,PCDH18,SLC7A11,SLC7A11-AS1 chr4 136186131 136186218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 136194051 136194151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1361957 1362037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UVSSA chr4 136217877 136217977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136231272 136231543 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 136263843 137423657 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 136283537 136283614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136321325 136321400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136324458 136325589 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1363553 1363608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UVSSA chr4 136422867 136422967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136440353 136440453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136452931 136452981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136456023 136456123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 136495391 136495491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136512190 136512285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 136594180 136594282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 136634567 136634717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13664793 13699752 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 136693111 136693211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136724854 136724949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136727692 136731110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 136772733 137315609 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 13682033 13713426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 13684683 13684783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1368643 1368716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 UVSSA chr4 136990404 136990504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 136991549 136991649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 137002935 137003035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 137051556 137051656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13711041 13711141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1371283 1405089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CRIPAK,UVSSA chr4 137136534 137136697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 137274689 137274852 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 137293157 137295362 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 137426052 137712536 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 137427068 137427168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 137439636 198436531 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CCRN4L,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CLGN,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,ELF2,ELMOD2,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FREM3,FRG1,FRG2,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,IL15,ING2,INPP4B,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFAP3L,MGARP,MGC45800,MGST2,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAA15,NAF1,NBLA00301,NDUFC1,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PALLD,PCDH18,PDGFC,PDLIM3,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCOC,SCRG1,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNORD73A,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UCP1,UFSP2,USP38,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 137479479 137479574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 137495733 137496938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 137495733 137496938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 137531088 137531144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1375340 1379782 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 UVSSA chr4 1375458 1375532 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 UVSSA chr4 137633891 137635075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 137651379 137686531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 137654861 137693506 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 137704926 137705026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1377175 2237275 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,CRIPAK,FAM53A,FGFR3,HAUS3,LETM1,MIR943,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,UVSSA,WHSC1,WHSC2 chr4 137744707 137744739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 137761067 137761136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 137762944 137835917 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 1377663 1379597 Gain and loss Pancreatic cancer SNP array 17952125 UVSSA chr4 137812211 137812311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1378152 1379776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 UVSSA chr4 1378152 1379776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 UVSSA chr4 137836676 137837039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 137839702 137857900 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 1378501 1401500 Copy number Normal ReadDepth: A Parallel R Package 21305028 CRIPAK,UVSSA chr4 137887320 137887420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 137952001 137953500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 13797849 13797926 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 137978713 137978813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 137989809 138021143 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 137995852 137995942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1380072 1392453 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 CRIPAK,UVSSA chr4 138054802 138054902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1381065 1388165 Gain and loss Pancreatic cancer SNP array 17952125 CRIPAK,UVSSA chr4 13815423 13815502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 138154297 138380002 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 138168349 138223359 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 138177325 138177547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138204808 138204908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138229548 139308745 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 LINC00499,LINC00616,PCDH18,SLC7A11,SLC7A11-AS1 chr4 13823948 13824048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138253069 138253169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138294218 138294296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138298771 138299007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138298902 138299002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138308997 138311553 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 138311451 138320081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 138311553 138311645 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 138311645 138312864 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 138312400 138316899 Deletion Medulloblastoma Illumina SNP arrays 21163964 NOT_FOUND chr4 138312864 138314571 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 138368732 138368835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 138397801 138412700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 138399422 138414390 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 138431122 138433327 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 138438626 138472589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PCDH18 chr4 138444335 138444435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH18 chr4 138482863 138654737 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 13849557 13849638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138520633 138520733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138588691 138589105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 138603839 138603927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138628546 138661834 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 138659522 138673079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 138659522 138673079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 138726846 138727260 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 138763145 138763245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138771934 138772072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 138798440 138811234 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 138810693 139729840 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00499,LINC00616,SLC7A11,SLC7A11-AS1 chr4 138886477 138887277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 138897853 139070702 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LINC00616,SLC7A11-AS1 chr4 138935317 138935412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 138957917 138958009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00616 chr4 1 38977848 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-464K arrays 21546498 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ARAP2,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,KIAA1239,KLF3,LAP3,LCORL,LDB2,LETM1,LGI2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PGM2,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBPJ,RELL1,RGS12,RNF212,RNF4,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 13897825 13901263 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 138987899 138987997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00616 chr4 139020000 191090000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CCRN4L,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CLGN,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,ELF2,ELMOD2,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FREM3,FRG1,FRG2,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,IL15,ING2,INPP4B,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LINC00499,LINC00616,LOC100129858,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFAP3L,MGARP,MGC45800,MGST2,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAA15,NAF1,NBLA00301,NDUFC1,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PALLD,PDGFC,PDLIM3,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCOC,SCRG1,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A4,SLC7A11,SLC7A11-AS1,SLED1,SMAD1,SMARCA5,SNORD73A,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UCP1,UFSP2,USP38,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 139183701 139188600 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 139185659 139186664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 139225000 139225180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 139304698 139382953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LINC00499 chr4 139304698 139382953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LINC00499 chr4 139321025 139322025 Loss Chordoma References 21215367 LINC00499 chr4 139330027 139340133 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 LINC00499 chr4 139361568 139361668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 139374854 139374954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 13941418 13941518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 139442817 139479861 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 139442860 139520963 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 139485002 139505126 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 139500000 141700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CCRN4L,CLGN,ELF2,ELMOD2,LOC100129858,MAML3,MGARP,MGST2,NAA15,NDUFC1,RAB33B,SCOC,SETD7,TBC1D9,UCP1 chr4 139500000 141700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CCRN4L,CLGN,ELF2,ELMOD2,LOC100129858,MAML3,MGARP,MGST2,NAA15,NDUFC1,RAB33B,SCOC,SETD7,TBC1D9,UCP1 chr4 139500000 141700000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 CCRN4L,CLGN,ELF2,ELMOD2,LOC100129858,MAML3,MGARP,MGST2,NAA15,NDUFC1,RAB33B,SCOC,SETD7,TBC1D9,UCP1 chr4 139500000 145000000 Copy-Neutral LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 CCRN4L,CLGN,ELF2,ELMOD2,FREM3,GAB1,GUSBP5,GYPB,GYPE,IL15,INPP4B,LOC100129858,MAML3,MGARP,MGST2,NAA15,NDUFC1,RAB33B,RNF150,SCOC,SETD7,SMARCA5,TBC1D9,UCP1,USP38,ZNF330 chr4 139500000 170400000 Deletion, duplication Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 ABCE1,ANAPC10,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASIC5,C4orf45,C4orf46,C4orf51,CBR4,CCRN4L,CLGN,CPE,CTSO,DCHS2,DCLK2,DDX60,DDX60L,DKFZP434I0714,EDNRA,ELF2,ELMOD2,ETFDH,FAM160A1,FAM198B,FAM218A,FBXW7,FGA,FGB,FGG,FHDC1,FNIP2,FREM3,FSTL5,GAB1,GK3P,GLRB,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HHIP,HHIP-AS1,IL15,INPP4B,KIAA0922,KLHL2,LOC100129858,LOC100505545,LOC100505989,LOC100506013,LOC340017,LRAT,LRBA,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MGARP,MGST2,MIR3140,MIR3688-1,MIR3688-2,MIR4453,MIR4799,MIR5684,MIR578,MMAA,MND1,MSMO1,NAA15,NAF1,NDUFC1,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,OTUD4,PALLD,PDGFC,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAB33B,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RXFP1,SCOC,SETD7,SFRP2,SH3D19,SH3RF1,SLC10A7,SMAD1,SMARCA5,SNORD73A,SPOCK3,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRIM2,TRIM60,TRIM61,TTC29,UCP1,USP38,ZNF330,ZNF827 chr4 139502133 139670493 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 139534742 139534831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 139566716 139566813 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 139603454 139603622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 139616294 139616347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 139686701 139694500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 139701308 139702545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 139760137 139760222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 139763666 139764204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 139788821 139788885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 139799259 139844113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 139802407 139836052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 139806569 139841166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 139823311 139845461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 139825662 139825741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 139839463 139840700 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 139840533 139875113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 139901821 139902359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 14000190 14000407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 140081599 140081699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 140129833 140129896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 140156393 140186541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 140156393 140186541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 140165401 140169400 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 140196079 140196175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGARP chr4 140198321 140317822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MGARP,NAA15,NDUFC1 chr4 140198321 140317822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGARP,NAA15,NDUFC1 chr4 14021195 14021294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 140240981 140241262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAA15 chr4 140240981 140241265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAA15 chr4 140255534 140255978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAA15 chr4 140267988 140268051 Gain and loss Pancreatic cancer SNP array 17952125 NAA15 chr4 140268542 140337038 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NAA15 chr4 140294548 140324696 Gain and loss Pancreatic cancer SNP array 17952125 NAA15 chr4 140295751 140296047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAA15 chr4 140298493 140298559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NAA15 chr4 140306468 140306568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NAA15 chr4 140326045 140326347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 140334234 140334330 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 140336476 140418211 Gain and loss Pancreatic cancer SNP array 17952125 RAB33B chr4 140340999 140341117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 140379136 140379417 Gain and loss Pancreatic cancer SNP array 17952125 RAB33B chr4 140393689 140394073 Gain and loss Pancreatic cancer SNP array 17952125 RAB33B chr4 140397261 140397364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 140406767 140420942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 140406767 140420942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 140430521 140443155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETD7 chr4 140430521 140443155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETD7 chr4 140430540 140436407 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 SETD7 chr4 140433906 140434202 Gain and loss Pancreatic cancer SNP array 17952125 SETD7 chr4 140436648 140436714 Gain and loss Pancreatic cancer SNP array 17952125 SETD7 chr4 140442126 140531972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SETD7 chr4 140442126 140531972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETD7 chr4 140443431 140461083 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SETD7 chr4 140452973 140457810 Loss Normal Birdsuite, version 1.5.2 22087296 SETD7 chr4 140458982 140459090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SETD7 chr4 140464200 140464503 Gain and loss Pancreatic cancer SNP array 17952125 SETD7 chr4 140464205 140464495 Gain and loss Pancreatic cancer SNP array 17952125 SETD7 chr4 140478322 140522239 Loss Autism qPCR 20531469 NOT_FOUND chr4 140479154 140479270 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 140511048 140511143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 140535416 140535517 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 140545276 140559097 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 140568697 140574563 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 140580260 140669543 Gain and loss Pancreatic cancer SNP array 17952125 MAML3,MGST2 chr4 140581359 140581454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 140594410 140616519 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 MGST2 chr4 140594411 140616511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MGST2 chr4 140597137 140597244 Gain and loss Pancreatic cancer SNP array 17952125 MGST2 chr4 140597137 140597245 Gain and loss Pancreatic cancer SNP array 17952125 MGST2 chr4 140599469 140631273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MGST2 chr4 140637908 140638418 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 MAML3,MGST2 chr4 140646642 140697373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAML3,MGST2 chr4 140646642 140697373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML3,MGST2 chr4 140647470 140647902 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 MAML3,MGST2 chr4 140732566 140754668 Gain and loss Pancreatic cancer SNP array 17952125 MAML3 chr4 140783669 140783769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAML3 chr4 140784798 140835163 Gain and loss Pancreatic cancer SNP array 17952125 MAML3 chr4 140791352 140791452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAML3 chr4 140806372 140844857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAML3 chr4 140806372 140844857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML3 chr4 140825731 140826031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML3 chr4 140831581 140831667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML3 chr4 140838793 140839113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MAML3 chr4 140838793 140839113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML3 chr4 140859927 141031580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML3 chr4 14089052 14089152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 40900000 Deletion Medulloblastoma SNP arrays 21979893 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TNIP2,TRMT44,UBE2K,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 140934877 140935037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MAML3 chr4 140938826 140938926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAML3 chr4 140938922 140939145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAML3 chr4 140938926 140939026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAML3 chr4 140944527 140983012 Gain and loss Pancreatic cancer SNP array 17952125 MAML3 chr4 140963861 140964186 Gain and loss Pancreatic cancer SNP array 17952125 MAML3 chr4 140963947 140964186 Gain and loss Pancreatic cancer SNP array 17952125 MAML3 chr4 140976903 140977313 Gain and loss Pancreatic cancer SNP array 17952125 MAML3 chr4 140977612 143144965 Gain Prostate cancer Array CGH 18632612 CLGN,ELMOD2,IL15,INPP4B,LOC100129858,MAML3,RNF150,SCOC,TBC1D9,UCP1,ZNF330 chr4 140996682 191259499 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CLGN,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,ELMOD2,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FREM3,FRG1,FRG2,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,IL15,ING2,INPP4B,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LOC100129858,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAML3,MAP9,MARCH1,MFAP3L,MGC45800,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAF1,NBLA00301,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PALLD,PDGFC,PDLIM3,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCOC,SCRG1,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A4,SLED1,SMAD1,SMARCA5,SNORD73A,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UCP1,UFSP2,USP38,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF330,ZNF827 chr4 140998088 140999020 Gain and loss Pancreatic cancer SNP array 17952125 MAML3 chr4 141071179 141071279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MAML3 chr4 14107178 14107278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 141073032 141073192 Gain and loss Pancreatic cancer SNP array 17952125 MAML3 chr4 1411001 1438500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 141167942 141168811 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 14118789 14694227 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LOC152742 chr4 1 41200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TNIP2,TRMT44,UBE2K,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 141201416 141677935 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLGN,ELMOD2,LOC100129858,SCOC,TBC1D9,UCP1 chr4 141206827 141206926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100129858,SCOC chr4 141220542 141221225 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100129858,SCOC chr4 141270848 141270945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC100129858,SCOC chr4 141365302 141365593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 14137902 14138002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC152742 chr4 14138322 14138422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC152742 chr4 141387354 141387454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 141397890 141523158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ELMOD2,UCP1 chr4 141397890 141523158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ELMOD2,UCP1 chr4 141401091 141401191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 141424330 141434998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 141457449 141677935 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ELMOD2,TBC1D9,UCP1 chr4 141500000 183200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AADAT,ABCE1,ADAM29,AGA,ANAPC10,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf51,CBR4,CEP44,CLCN3,CPE,CTSO,DCHS2,DCLK2,DDX60,DDX60L,DKFZP434I0714,EDNRA,ETFDH,FAM160A1,FAM198B,FAM218A,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FNIP2,FREM3,FSTL5,GAB1,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GUSBP5,GYPA,GYPB,GYPE,HAND2,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA6P,IL15,INPP4B,KIAA0922,KLHL2,LINC00290,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC285501,LOC340017,LRAT,LRBA,LSM6,MAB21L2,MAP9,MARCH1,MFAP3L,MGC45800,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MMAA,MND1,MSMO1,NAF1,NBLA00301,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,OTUD4,PALLD,PDGFC,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAPGEF2,RBM46,RNF150,RNF175,RPS3A,RXFP1,SAP30,SCRG1,SFRP2,SH3D19,SH3RF1,SLC10A7,SMAD1,SMARCA5,SNORD73A,SPATA4,SPCS3,SPOCK3,TBC1D9,TDO2,TIGD4,TKTL2,TLL1,TLR2,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRIM2,TRIM60,TRIM61,TTC29,USP38,VEGFC,WDR17,ZNF330,ZNF827 chr4 141506837 141507464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 141529059 141568232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D9 chr4 141529059 141568232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D9 chr4 141563935 141583885 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D9 chr4 141591675 141597360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D9 chr4 141598764 143656669 Deletion Obesity Illumina SNP array 20622171 IL15,INPP4B,RNF150,TBC1D9,ZNF330 chr4 141622206 141660909 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D9 chr4 141645157 141645619 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D9 chr4 141664772 141694374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TBC1D9 chr4 141664772 141694374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TBC1D9 chr4 141664801 141691295 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 TBC1D9 chr4 141667214 141706387 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D9 chr4 141700000 145000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FREM3,GAB1,GUSBP5,GYPB,GYPE,IL15,INPP4B,RNF150,SMARCA5,USP38,ZNF330 chr4 141700000 145000000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 FREM3,GAB1,GUSBP5,GYPB,GYPE,IL15,INPP4B,RNF150,SMARCA5,USP38,ZNF330 chr4 141700000 145000000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 FREM3,GAB1,GUSBP5,GYPB,GYPE,IL15,INPP4B,RNF150,SMARCA5,USP38,ZNF330 chr4 141700000 145000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FREM3,GAB1,GUSBP5,GYPB,GYPE,IL15,INPP4B,RNF150,SMARCA5,USP38,ZNF330 chr4 141700000 145000000 Duplication Autism high-density microarrays 22241247 FREM3,GAB1,GUSBP5,GYPB,GYPE,IL15,INPP4B,RNF150,SMARCA5,USP38,ZNF330 chr4 141700000 145000000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 FREM3,GAB1,GUSBP5,GYPB,GYPE,IL15,INPP4B,RNF150,SMARCA5,USP38,ZNF330 chr4 141700500 141709457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 141700500 141709457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 141706353 141747786 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 141716510 141716576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 141718529 141718824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 141718529 141718825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 141762799 141896921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF150 chr4 141783501 141786000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 141802927 141832529 Gain and loss Pancreatic cancer SNP array 17952125 RNF150 chr4 141809764 141831219 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 RNF150 chr4 141838655 141847612 Gain and loss Pancreatic cancer SNP array 17952125 RNF150 chr4 141841439 141841546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF150 chr4 141856684 141856980 Gain and loss Pancreatic cancer SNP array 17952125 RNF150 chr4 141899544 142034879 Gain and loss Pancreatic cancer SNP array 17952125 RNF150 chr4 141918380 142970176 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 IL15,INPP4B,RNF150,ZNF330 chr4 141918380 144493606 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GAB1,GUSBP5,IL15,INPP4B,RNF150,SMARCA5,USP38,ZNF330 chr4 141919643 141919745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF150 chr4 141921610 141921710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF150 chr4 141979596 141979701 Gain and loss Pancreatic cancer SNP array 17952125 RNF150 chr4 14199378 14199478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142006174 142273412 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 RNF150,ZNF330 chr4 142006174 142274066 Deletion Intellectual disability 100k SNP Array 21811512 RNF150,ZNF330 chr4 142006175 142274066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF150,ZNF330 chr4 142006175 142274066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF150,ZNF330 chr4 142057800 142057900 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 142144330 142411765 Gain and loss Pancreatic cancer SNP array 17952125 ZNF330 chr4 142146379 142146691 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZNF330 chr4 142150942 142183773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ZNF330 chr4 142166568 142166668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142271193 142271293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142271936 142272036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142274075 142274175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142291111 142291211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142340473 142340573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142361541 142375298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 142361541 142375298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 142420696 144136994 LOH Normal High-resolution SNP genotyping 21211785 IL15,INPP4B,USP38 chr4 142423266 142725556 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 IL15 chr4 142423407 144125687 LOH Normal High-resolution SNP genotyping 21211785 IL15,INPP4B,USP38 chr4 142438378 142438482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 142448201 142454300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 142450229 142452512 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 142450389 142453257 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 142450389 142453257 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr4 142481344 142481418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142499696 142513453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 142528744 142528844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142537773 142537873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 14254452 14254552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142573925 142574025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL15 chr4 142576533 142576637 Gain and loss Pancreatic cancer SNP array 17952125 IL15 chr4 142601465 142601530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 IL15 chr4 142641651 142642025 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IL15 chr4 142714142 142714242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142749368 142749456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142777204 142874062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 142777204 142874062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 14288285 14288385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 142915359 143012216 Gain and loss Pancreatic cancer SNP array 17952125 INPP4B chr4 142949893 143352533 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 INPP4B chr4 142967798 142967896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP4B chr4 14301432 14301554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 143072890 143072978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP4B chr4 143085333 143145821 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 INPP4B chr4 143094949 143095060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP4B chr4 143126526 143285649 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 INPP4B chr4 143136466 143703193 LOH Normal High-resolution SNP genotyping 21211785 INPP4B chr4 143138226 143703193 LOH Normal High-resolution SNP genotyping 21211785 INPP4B chr4 143168636 143603331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 INPP4B chr4 143168636 143603331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 INPP4B chr4 143194573 143194669 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP4B chr4 143204709 143206773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP4B chr4 143241295 143241395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP4B chr4 143248994 143249050 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP4B chr4 143306791 143741485 Gain and loss Pancreatic cancer SNP array 17952125 INPP4B chr4 143386385 143386576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 INPP4B chr4 143426879 144165582 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 INPP4B,USP38 chr4 143537579 143537679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP4B chr4 1 435793 Deletion Cancer Affymetrix 250K Sty array 20164920 ABCA11P,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 143594627 143594727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP4B chr4 143614001 143615500 Copy number Normal ReadDepth: A Parallel R Package 21305028 INPP4B chr4 143617033 143618033 Gain Chordoma References 21215367 INPP4B chr4 14368603 14368725 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 143686062 143686162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 INPP4B chr4 143832288 143832388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1438501 1644000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM53A chr4 143879801 143879947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 14394095 14394175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 143986001 143988000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 144013679 144020450 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 144077368 144078039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 144124295 144126727 Gain and loss Pancreatic cancer SNP array 17952125 USP38 chr4 144127298 144142743 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 USP38 chr4 144174464 144174551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 144204782 144204876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 144261800 144262295 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GAB1 chr4 144275306 144275406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GAB1 chr4 144325501 144326500 Copy number Normal ReadDepth: A Parallel R Package 21305028 GAB1 chr4 144325547 144362090 Gain or loss Breast cancer - 20668451 GAB1 chr4 144325547 144362090 Gain or loss Cancer - 20668451 GAB1 chr4 144325547 144362090 Gain or loss Lung cancer - 20668451 GAB1 chr4 144325547 144362090 Gain or loss Ovarian cancer - 20668451 GAB1 chr4 144325547 144362090 Gain or loss Pancreas cancer - 20668451 GAB1 chr4 144325547 144362090 Gain or loss Prostate cancer - 20668451 GAB1 chr4 144325548 144362087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GAB1 chr4 144325548 144362087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GAB1 chr4 144429866 144429966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 144450069 144450169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMARCA5 chr4 14445721 14449246 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 144463703 144500240 Gain and loss Pancreatic cancer SNP array 17952125 FREM3,GUSBP5,SMARCA5 chr4 144474160 144475891 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 SMARCA5 chr4 144475740 144475847 Gain and loss Pancreatic cancer SNP array 17952125 SMARCA5 chr4 144477238 144477793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SMARCA5 chr4 144477500 144610728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FREM3,GUSBP5,SMARCA5 chr4 144477500 144610728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FREM3,GUSBP5,SMARCA5 chr4 144477580 144610729 Gain or loss Breast cancer - 20668451 FREM3,GUSBP5,SMARCA5 chr4 144477580 144610729 Gain or loss Cancer - 20668451 FREM3,GUSBP5,SMARCA5 chr4 144477580 144610729 Gain or loss Lung cancer - 20668451 FREM3,GUSBP5,SMARCA5 chr4 144477580 144610729 Gain or loss Ovarian cancer - 20668451 FREM3,GUSBP5,SMARCA5 chr4 144477580 144610729 Gain or loss Pancreas cancer - 20668451 FREM3,GUSBP5,SMARCA5 chr4 144477580 144610729 Gain or loss Prostate cancer - 20668451 FREM3,GUSBP5,SMARCA5 chr4 144532178 144550535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FREM3 chr4 144546467 144546981 Gain and loss Pancreatic cancer SNP array 17952125 FREM3 chr4 144562436 145369309 LOH Normal High-resolution SNP genotyping 21211785 FREM3,GYPA,GYPB,GYPE chr4 144588224 144588322 Gain and loss Pancreatic cancer SNP array 17952125 FREM3 chr4 144588226 144588321 Gain and loss Pancreatic cancer SNP array 17952125 FREM3 chr4 144608530 144608844 Gain and loss Pancreatic cancer SNP array 17952125 FREM3 chr4 144615393 144615948 Gain and loss Pancreatic cancer SNP array 17952125 FREM3 chr4 144615655 144748883 Gain and loss Pancreatic cancer SNP array 17952125 FREM3 chr4 144622796 144622896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 144628033 144628875 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 144654065 144694017 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr4 144654066 144694016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 144654066 144694016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 144691307 144691395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 144700090 144700668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 144701 147777 Gain and loss Pancreatic cancer SNP array 17952125 ZNF718 chr4 144705898 144872906 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPE chr4 144705898 144872906 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPE chr4 144705898 145015766 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPB,GYPE chr4 144705898 145015766 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPB,GYPE chr4 144705898 145158970 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA,GYPB,GYPE chr4 144705898 145230154 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA,GYPB,GYPE chr4 144705898 145489197 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA,GYPB,GYPE chr4 144718013 144841278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GYPE chr4 144721001 144722500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 14472559 14472659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 144792221 144832171 Gain and loss Pancreatic cancer SNP array 17952125 GYPE chr4 144792738 144793064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GYPE chr4 144819747 145230154 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA,GYPB,GYPE chr4 144838230 144840217 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 144840001 144841500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 144847402 144854579 Duplication Autism quantitative PCR 19404257 NOT_FOUND chr4 144928265 144963477 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GYPB chr4 144938147 144965448 Gain Normal Birdsuite, version 1.5.2 22087296 GYPB chr4 144975942 144977864 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 144991727 145230154 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA chr4 144991727 145400989 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA chr4 144991727 145489197 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA chr4 145000000 147700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ABCE1,ANAPC10,C4orf51,GYPA,HHIP,HHIP-AS1,LOC100505545,LSM6,MMAA,OTUD4,POU4F2,SLC10A7,SMAD1,TTC29,ZNF827 chr4 145000000 191273063 Loss Breast cancer agilent DNA microarrray 21633010 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FRG1,FRG2,FSTL5,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GYPA,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,ING2,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAP9,MARCH1,MFAP3L,MGC45800,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAF1,NBLA00301,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PALLD,PDGFC,PDLIM3,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAPGEF2,RBM46,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCRG1,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A4,SLED1,SMAD1,SNORD73A,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF827 chr4 145000000 191273063 Loss Breast cancer Qiagen RNeasy Mini Kit 21633010 AADAT,ABCE1,ACSL1,ADAM29,AGA,ANAPC10,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ARHGAP10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,C4orf51,CASP3,CBR4,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FRG1,FRG2,FSTL5,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,GYPA,HAND2,HELT,HHIP,HHIP-AS1,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,ING2,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LOC100288255,LOC100505545,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,LSM6,MAB21L2,MAP9,MARCH1,MFAP3L,MGC45800,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR4799,MIR5684,MIR578,MLF1IP,MMAA,MND1,MSMO1,MTNR1A,NAF1,NBLA00301,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,NR3C2,ODZ3,OTUD4,PALLD,PDGFC,PDLIM3,PET112,PLRG1,POU4F2,PPID,PRMT10,PRSS48,RAPGEF2,RBM46,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCRG1,SFRP2,SH3D19,SH3RF1,SLC10A7,SLC25A4,SLED1,SMAD1,SNORD73A,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM184C,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TTC29,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42,ZNF827 chr4 1 4500000 Deletion Wolf-Hirschhorn syndrome Affymetrix human genome U133A arrays 19259404 ABCA11P,ADD1,ADRA2C,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,DOK7,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,GAK,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC100133461,LOC402160,LRPAP1,LYAR,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MSANTD1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,STX18,TACC3,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 4500000 Loss Bladder cancer Affymetrix 250K SNP array 19242612 ABCA11P,ADD1,ADRA2C,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,DOK7,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,GAK,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC100133461,LOC402160,LRPAP1,LYAR,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MSANTD1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,STX18,TACC3,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 4500000 Loss Breast cancer Affymetrix 250K SNP array 19242612 ABCA11P,ADD1,ADRA2C,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,DOK7,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,GAK,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC100133461,LOC402160,LRPAP1,LYAR,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MSANTD1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,STX18,TACC3,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 4500000 Loss Congenital anomalies of the kidney and urinary tract Affymetrix 250K SNP array 19242612 ABCA11P,ADD1,ADRA2C,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,DOK7,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,GAK,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC100133461,LOC402160,LRPAP1,LYAR,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MSANTD1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,STX18,TACC3,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 145011470 145037784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GYPA chr4 145013767 145400989 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA chr4 145013767 145489197 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA chr4 145052580 145400989 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA chr4 145052580 145489197 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 GYPA chr4 145061542 145144375 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GYPA chr4 145105467 145105567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 145113422 145113522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 145135244 145434289 Copy number Normal Quantitative Real-Time PCR 17666543 NOT_FOUND chr4 145135814 145251291 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 145136707 145159946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 145136707 145159946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 145140024 145144387 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 145144387 145176377 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 145146545 145178777 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 145146545 145252334 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 145149625 145184321 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 145176377 145177429 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 145177429 145252346 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 145223093 145400989 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 145223093 145489197 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 145249906 145281296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 145249906 145281296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 145274935 145298045 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 145367864 145367964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 145379647 145379747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 145388062 145419393 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 145393723 145393764 Loss Normal 244K array 17666407 NOT_FOUND chr4 145395078 145395309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 145395294 145395486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 145494489 145650947 Loss Autism - 20841430 HHIP,HHIP-AS1 chr4 145519884 145845546 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 HHIP,HHIP-AS1 chr4 145519884 146044601 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ABCE1,ANAPC10,HHIP,HHIP-AS1 chr4 145535896 145539355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 145538516 145539377 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 145598687 145598755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHIP chr4 14562599 14831619 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 NOT_FOUND chr4 145650072 145650172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HHIP chr4 145664255 145692821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 145665848 145682032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 14576364 15076133 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CPEB2,LOC441009 chr4 145786623 145879337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 145786623 145879337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 14580003 17705369 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 BST1,C1QTNF7,CC2D2A,CD38,CLRN2,CPEB2,FAM184B,FAM200B,FBXL5,FGFBP1,FGFBP2,FLJ39653,LAP3,LDB2,LOC441009,MED28,MIR548AX,PROM1,QDPR,TAPT1 chr4 145851245 145851651 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 145916319 146019342 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 ABCE1,ANAPC10 chr4 145924778 146017492 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC10 chr4 145987174 145987949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC10 chr4 146009322 146009422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANAPC10 chr4 146019485 146050332 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 ABCE1,ANAPC10 chr4 146050567 146051567 Loss Chordoma References 21215367 ABCE1 chr4 146125329 146126104 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 146135765 146238815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 146135765 146238815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 14614620 14680872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 14614620 14680872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 146175734 146176044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 146191241 146192241 Gain Chordoma References 21215367 NOT_FOUND chr4 146229015 146229115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 146229365 146229455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 14623535 14655357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 146238606 146270126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 146238606 146270126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 14625168 14646371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 146260755 146260755 Copy number Prostate cancer Illumina GA II sequencer 21307934 NOT_FOUND chr4 146273920 146376970 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 146274251 146320282 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 146274251 146320282 Gain or loss Cancer - 20668451 NOT_FOUND chr4 146274251 146320282 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 146274251 146320282 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 146274251 146320282 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 146274251 146320282 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 146274252 146320575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 146274252 146320575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 146313889 146314138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 146313889 146314223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 146316155 146316235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 146342395 146342474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 146377086 146407936 Gain and loss Pancreatic cancer SNP array 17952125 SMAD1 chr4 146392191 146393191 Loss Chordoma References 21215367 NOT_FOUND chr4 146409610 146409710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SMAD1 chr4 146412408 146453501 Gain and loss Pancreatic cancer SNP array 17952125 SMAD1 chr4 146428296 146428406 Gain and loss Pancreatic cancer SNP array 17952125 SMAD1 chr4 146461918 146461987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SMAD1 chr4 146479198 146480329 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 SMAD1 chr4 146538267 146538599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 146563 146748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF718 chr4 146620000 146670000 Loss Acute lymphoblastic leukemia - 21339820 C4orf51 chr4 146622401 146699773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf51,ZNF827 chr4 146622401 146699773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf51,ZNF827 chr4 146635539 146635639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C4orf51 chr4 146654300 146655010 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 146656301 146661900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 146658257 146659900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 146661691 146661791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 146680032 146680132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 146759990 146799293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF827 chr4 146759990 146799293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF827 chr4 146760540 146836832 Gain and loss Pancreatic cancer SNP array 17952125 ZNF827 chr4 146760830 146761244 Gain and loss Pancreatic cancer SNP array 17952125 ZNF827 chr4 146764038 146839253 Gain Normal Birdsuite, version 1.5.2 22087296 ZNF827 chr4 146770961 146770993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF827 chr4 146780631 146780731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF827 chr4 14681791 14748043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 146828143 146828234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF827 chr4 146837539 146837637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZNF827 chr4 146865156 146865256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 14686672 14686704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 146898145 146937448 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 146901342 147079057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100505545 chr4 146901342 147079057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505545 chr4 146908967 146909067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 146910867 146910958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 146986879 146986962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 147005130 147005230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 147009788 147009888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 147039495 147217187 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505545,LSM6,SLC10A7 chr4 14704489 14704816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 147098730 147098842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LSM6 chr4 147115706 147115806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 147121279 147123802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 147138060 147147108 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 147138293 147138393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 147139028 147147193 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 147139029 147147190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 147221480 147294628 Deletion Breast cancer Illumina 1M duo array 20393555 SLC10A7 chr4 147225285 147225503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC10A7 chr4 147236887 147236997 Gain and loss Pancreatic cancer SNP array 17952125 SLC10A7 chr4 147236889 147236997 Gain and loss Pancreatic cancer SNP array 17952125 SLC10A7 chr4 147260054 147260134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLC10A7 chr4 147262806 147262886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC10A7 chr4 147271388 147309558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC10A7 chr4 147272621 147290978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLC10A7 chr4 147316331 147330646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLC10A7 chr4 147316331 147330646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLC10A7 chr4 147347813 147348113 Loss Chordoma References 21215367 SLC10A7 chr4 147352460 147353460 Gain Chordoma References 21215367 SLC10A7 chr4 147394594 147662542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POU4F2,SLC10A7,TTC29 chr4 147394594 147662542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POU4F2,SLC10A7,TTC29 chr4 147431692 147437356 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SLC10A7 chr4 147444743 147490617 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 147454486 147468801 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 147494718 147502865 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 147507789 147507878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 147532742 147800652 Gain and loss Pancreatic cancer SNP array 17952125 POU4F2,TTC29 chr4 147564772 147593580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 147580266 147588827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 147580473 147594217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 147647749 147647849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC29 chr4 147700000 151000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ARHGAP10,DCLK2,EDNRA,MIR4799,NR3C2,PRMT10,TMEM184C,TTC29 chr4 147700000 151000000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ARHGAP10,DCLK2,EDNRA,MIR4799,NR3C2,PRMT10,TMEM184C,TTC29 chr4 147700000 151000000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 ARHGAP10,DCLK2,EDNRA,MIR4799,NR3C2,PRMT10,TMEM184C,TTC29 chr4 14771663 14771987 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 14771740 14771986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 147720650 147720811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC29 chr4 147724882 147724976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TTC29 chr4 147726913 149576925 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP10,EDNRA,MIR4799,NR3C2,PRMT10,TMEM184C,TTC29 chr4 147766373 147798753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TTC29 chr4 147779495 147783073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC29 chr4 147779495 147783073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC29 chr4 147847630 148086484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TTC29 chr4 147847630 148086484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TTC29 chr4 147858805 147858967 Gain and loss Pancreatic cancer SNP array 17952125 TTC29 chr4 147880972 147881061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 147917693 147921228 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 147921069 148897061 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ARHGAP10,EDNRA,MIR4799,PRMT10,TMEM184C chr4 147925705 147926005 Gain Chordoma References 21215367 NOT_FOUND chr4 147959552 147959652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 147985790 148224594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 148053715 148053953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 148053939 148054145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 148140041 148140353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 148146766 148146866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 14819233 14819329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 14823454 14823529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 148310014 148310093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 14832620 14925172 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 LOC441009 chr4 148337427 148337527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 148353263 148354552 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 148355858 148371597 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 148409659 148409759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 EDNRA chr4 148414501 148416000 Copy number Normal ReadDepth: A Parallel R Package 21305028 EDNRA chr4 1484196 1519086 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 NOT_FOUND chr4 148425436 154149833 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ARFIP1,ARHGAP10,DCLK2,DKFZP434I0714,EDNRA,FAM160A1,FBXW7,FHDC1,LRBA,MAB21L2,MIR3140,MIR4453,MIR4799,NR3C2,PET112,PRMT10,PRSS48,RPS3A,SH3D19,SNORD73A,TIGD4,TMEM154,TMEM184C,TRIM2 chr4 148485231 148485319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 14848908 14849037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 148525953 148526038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 148549549 148575429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRMT10,TMEM184C chr4 148558944 148575570 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 PRMT10 chr4 148560018 148560118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT10 chr4 148562489 148562589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT10 chr4 148582345 148582403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PRMT10 chr4 148588198 148633383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PRMT10 chr4 148595812 148595911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PRMT10 chr4 148621356 148685556 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ARHGAP10 chr4 148621356 148685556 Gain or loss Breast cancer - 20668451 ARHGAP10 chr4 148621356 148685556 Gain or loss Cancer - 20668451 ARHGAP10 chr4 148621356 148685556 Gain or loss Lung cancer - 20668451 ARHGAP10 chr4 148621356 148685556 Gain or loss Ovarian cancer - 20668451 ARHGAP10 chr4 148621356 148685556 Gain or loss Pancreas cancer - 20668451 ARHGAP10 chr4 148621356 148685556 Gain or loss Prostate cancer - 20668451 ARHGAP10 chr4 148621575 148685555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 148621575 148685555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 14863038 14863130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 148757988 148776122 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 ARHGAP10 chr4 148758046 148776120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 148758046 148776120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 148759730 148823710 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP10 chr4 148765887 148765919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP10 chr4 148775505 148775600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP10 chr4 148778784 148824764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 148778784 148824764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 148783349 148783539 Loss Autism 1M Ailent CGH whole-genome array 21865298 ARHGAP10 chr4 148803145 148803410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 148872903 149213376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10,NR3C2 chr4 148872903 149213376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10,NR3C2 chr4 148896201 148914275 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP10 chr4 148914022 148992942 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ARHGAP10 chr4 148917141 148962885 Gain and loss Pancreatic cancer SNP array 17952125 ARHGAP10 chr4 148949527 148949808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 148949527 148949810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARHGAP10 chr4 148950376 148950476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARHGAP10 chr4 148996904 148997004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 149010947 149011558 Gain and loss Pancreatic cancer SNP array 17952125 NR3C2 chr4 149011058 149351531 Gain and loss Pancreatic cancer SNP array 17952125 NR3C2 chr4 149016366 149016449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR3C2 chr4 149087682 149087965 Gain and loss Pancreatic cancer SNP array 17952125 NR3C2 chr4 149095002 149095082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR3C2 chr4 149144392 149144492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR3C2 chr4 149170 174241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF718 chr4 149176182 153146998 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DCLK2,FAM160A1,LRBA,MAB21L2,NR3C2,PET112,PRSS48,RPS3A,SH3D19,SNORD73A chr4 149219365 149583093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NR3C2 chr4 149219365 149583093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NR3C2 chr4 149294572 149294671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR3C2 chr4 149344411 149344511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NR3C2 chr4 149357525 149721128 Gain and loss Pancreatic cancer SNP array 17952125 NR3C2 chr4 1493901 1498700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 149392973 149393073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 149404551 149422244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 149447182 149447250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 14950658 15056887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPEB2,LOC441009 chr4 14950658 15056887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPEB2,LOC441009 chr4 149546422 149547422 Gain Chordoma References 21215367 NOT_FOUND chr4 1495568 1496962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1495928 1497043 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr4 149618206 149618306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 149698549 149698666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 149714351 150536521 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 149714351 150788838 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 149760405 149760494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 149774153 149774253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 149820216 150546443 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 149836704 149836796 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 149836704 149836804 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 149884324 149884474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 149942757 153745460 LOH Normal High-resolution SNP genotyping 21211785 ARFIP1,DCLK2,DKFZP434I0714,FAM160A1,FBXW7,LRBA,MAB21L2,MIR3140,MIR4453,PET112,PRSS48,RPS3A,SH3D19,SNORD73A,TIGD4,TMEM154 chr4 150007432 150007518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 150055000 150200000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 NOT_FOUND chr4 150090295 150090395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 150094476 150110979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 150128170 150128270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 150133936 150261600 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 NOT_FOUND chr4 150162440 150162540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 15017829 15124058 Gain and loss Pancreatic cancer SNP array 17952125 CPEB2 chr4 150207901 150214000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 150210029 150212027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 150226891 150226991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 150265839 150265889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 150270328 150270391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 150337405 150383928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 150338560 150421381 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 150338730 150421381 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 150364901 150416161 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 150366854 150394795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 150380490 150380831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1 50400000 Deletion Colorectal cancer GISTIC software 19359472 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50400000 Loss head and neck squamous cell carcinoma CGH 17671120 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50400000 Loss Neuroblastoma Affymetrix U133 Plus 2 chip 17533364 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50400000 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 150418950 150419865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 150475381 150475481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 50600 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 150630723 151094585 Gain and loss Pancreatic cancer SNP array 17952125 DCLK2 chr4 150666304 151185252 LOH Normal High-resolution SNP genotyping 21211785 DCLK2 chr4 1 50700000 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Amplification Melanoma Multiplex Ligation-Dependent Probe Amplification 21693616 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Copy number Squamous cell cancer Array comparative genomic hybridization 21044232 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Deletion Colorectal cancer Array CGH 20709793 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Deletion Colorectal cancer SNP array 20709793 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Deletion Esophageal squamous carcinoma CGH 21637470 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Deletion Non-small cell lung cancer Array comparative genomic hybridization 21044232 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Gain Ewing's sarcoma CGH(Reference) 21437220 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Gain Glioblastoma multiforme CGH 17387387 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Gain or loss Endometrial cancer CGH 22040021 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Loss Breast cancer aCGH 21264507 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1 50700000 Loss Glioblastoma multiforme CGH 19960244 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CHRNA9,CLNK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DCAF16,DCAF4L1,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GUF1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBM47,RBPJ,RELL1,RFC1,RGS12,RHOH,RNF212,RNF4,RPL9,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM175,TMEM33,TNIP2,TRMT44,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 150722910 150722959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 150845911 150845999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 150871090 152415585 LOH Normal High-resolution SNP genotyping 21211785 DCLK2,FAM160A1,LRBA,MAB21L2,PRSS48,RPS3A,SH3D19,SNORD73A chr4 150879269 150879369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 15089945 15212267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 15089945 15212267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 150959792 150959892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 150966478 150966628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 150986768 150986868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 150988520 150988753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 151000000 155100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANXA2P1,ARFIP1,DCLK2,DKFZP434I0714,FAM160A1,FBXW7,FHDC1,KIAA0922,LRBA,MAB21L2,MIR3140,MIR4453,MND1,PET112,PRSS48,RNF175,RPS3A,SFRP2,SH3D19,SNORD73A,TIGD4,TLR2,TMEM154,TRIM2 chr4 151000000 155100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANXA2P1,ARFIP1,DCLK2,DKFZP434I0714,FAM160A1,FBXW7,FHDC1,KIAA0922,LRBA,MAB21L2,MIR3140,MIR4453,MND1,PET112,PRSS48,RNF175,RPS3A,SFRP2,SH3D19,SNORD73A,TIGD4,TLR2,TMEM154,TRIM2 chr4 151000000 155100000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 ANXA2P1,ARFIP1,DCLK2,DKFZP434I0714,FAM160A1,FBXW7,FHDC1,KIAA0922,LRBA,MAB21L2,MIR3140,MIR4453,MND1,PET112,PRSS48,RNF175,RPS3A,SFRP2,SH3D19,SNORD73A,TIGD4,TLR2,TMEM154,TRIM2 chr4 151000000 155100000 Loss Non-small cell lung cancer dChip 21829676 ANXA2P1,ARFIP1,DCLK2,DKFZP434I0714,FAM160A1,FBXW7,FHDC1,KIAA0922,LRBA,MAB21L2,MIR3140,MIR4453,MND1,PET112,PRSS48,RNF175,RPS3A,SFRP2,SH3D19,SNORD73A,TIGD4,TLR2,TMEM154,TRIM2 chr4 15103445 15103579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 151048170 151048281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK2 chr4 151054828 151054928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK2 chr4 15105730 15105830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 151064181 151064281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK2 chr4 151074978 151075085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCLK2 chr4 151100000 155600000 Loss Breast cancer HumArray2.0 or HumArray3.1 17588203 ANXA2P1,ARFIP1,DCHS2,DCLK2,DKFZP434I0714,FAM160A1,FBXW7,FGA,FGB,FGG,FHDC1,KIAA0922,LRBA,MAB21L2,MIR3140,MIR4453,MND1,PET112,PLRG1,PRSS48,RNF175,RPS3A,SFRP2,SH3D19,SNORD73A,TIGD4,TLR2,TMEM154,TRIM2 chr4 151100000 161800000 Deletion T-cell acute lymphoblastic leukemia Array CGH 18185524 ANXA2P1,ARFIP1,ASIC5,C4orf45,C4orf46,CTSO,DCHS2,DCLK2,DKFZP434I0714,ETFDH,FAM160A1,FAM198B,FBXW7,FGA,FGB,FGG,FHDC1,FNIP2,GLRB,GRIA2,GUCY1A3,GUCY1B3,KIAA0922,LOC340017,LRAT,LRBA,MAB21L2,MAP9,MIR3140,MIR3688-1,MIR3688-2,MIR4453,MND1,NPY2R,PDGFC,PET112,PLRG1,PPID,PRSS48,RAPGEF2,RBM46,RNF175,RPS3A,RXFP1,SFRP2,SH3D19,SNORD73A,TDO2,TIGD4,TLR2,TMEM144,TMEM154,TRIM2 chr4 151100000 191154276 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 AADAT,ACSL1,ADAM29,AGA,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,CASP3,CBR4,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CPE,CTSO,CYP4V2,DCHS2,DCLK2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,ETFDH,F11,FAM149A,FAM160A1,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FRG1,FRG2,FSTL5,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,ING2,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LOC100288255,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRBA,LRP2BP,MAB21L2,MAP9,MARCH1,MFAP3L,MGC45800,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR5684,MIR578,MLF1IP,MND1,MSMO1,MTNR1A,NAF1,NBLA00301,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,ODZ3,PALLD,PDGFC,PDLIM3,PET112,PLRG1,PPID,PRSS48,RAPGEF2,RBM46,RNF175,RPS3A,RWDD4,RXFP1,SAP30,SCRG1,SFRP2,SH3D19,SH3RF1,SLC25A4,SLED1,SNORD73A,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 151120392 151120485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK2 chr4 151126675 151126908 Gain and loss Pancreatic cancer SNP array 17952125 DCLK2 chr4 151151356 151151441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCLK2 chr4 151168901 151172600 Deletion Glioma mate-paired sequence 20126413 DCLK2 chr4 151170478 151170799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DCLK2 chr4 151185252 151431849 Allelic imbalance Normal High-resolution SNP genotyping 21211785 LRBA chr4 151185252 151431849 Copy number gain Normal High-resolution SNP genotyping 21211785 LRBA chr4 151185598 151388930 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 LRBA chr4 151186317 151186406 Gain and loss Pancreatic cancer SNP array 17952125 LRBA chr4 151186318 151186431 Gain and loss Pancreatic cancer SNP array 17952125 LRBA chr4 151208585 151208684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRBA chr4 15120886 15425789 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QTNF7 chr4 151213133 151213240 Gain and loss Pancreatic cancer SNP array 17952125 LRBA chr4 151218876 151398033 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRBA chr4 151218876 151398033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRBA chr4 151218876 151398033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRBA chr4 151249365 151249465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRBA chr4 151357744 151536188 Gain and loss Pancreatic cancer SNP array 17952125 LRBA,MAB21L2 chr4 1513762 2274274 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,FAM53A,FGFR3,HAUS3,LETM1,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,WHSC1,WHSC2,ZFYVE28 chr4 151405044 152156329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRBA,MAB21L2,RPS3A,SH3D19,SNORD73A chr4 151405044 152156329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRBA,MAB21L2,RPS3A,SH3D19,SNORD73A chr4 151405263 152156099 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LRBA,MAB21L2,RPS3A,SH3D19,SNORD73A chr4 151431849 152964781 LOH Normal High-resolution SNP genotyping 21211785 FAM160A1,LRBA,MAB21L2,PET112,PRSS48,RPS3A,SH3D19,SNORD73A chr4 151440040 151440140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRBA chr4 151488462 151488524 Gain and loss Pancreatic cancer SNP array 17952125 LRBA chr4 151517802 151549369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRBA chr4 151522409 151553738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRBA chr4 151523260 151531969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRBA chr4 151527029 151533857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRBA chr4 15153038 15153138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 151530959 151531059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRBA chr4 151543288 152294254 Gain and loss Pancreatic cancer SNP array 17952125 LRBA,PRSS48,RPS3A,SH3D19,SNORD73A chr4 15155347 15155440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 15157116 15279438 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1515858 1562029 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 15162832 15162926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 151639621 151639721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRBA chr4 151691272 151691372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRBA chr4 151697078 151697178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRBA chr4 151722753 151725293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LRBA chr4 151722753 151725293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRBA chr4 151739607 151739666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRBA chr4 151780358 151780468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRBA chr4 151843885 151889084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LRBA chr4 151860582 151862080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LRBA chr4 151860908 151863448 Gain and loss Pancreatic cancer SNP array 17952125 LRBA chr4 151899929 152291326 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 LRBA,PRSS48,RPS3A,SH3D19,SNORD73A chr4 151912897 152002035 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 LRBA chr4 151937794 151952698 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 151999738 152000195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 15200000 191154276 Loss Basal cell lymphoma Array CGH 16317097 AADAT,AASDH,ABCE1,ABCG2,ACSL1,ADAD1,ADAM29,ADAMTS3,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BMP2K,BMP3,BMPR1B,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf51,C4orf52,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPRIN3,GRIA2,GRID2,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HELQ,HELT,HERC3,HERC5,HERC6,HHIP,HHIP-AS1,HMGB2,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB3P,HSPA4L,HTN1,HTN3,IBSP,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100144602,LOC100288255,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC152578,LOC255130,LOC256880,LOC285419,LOC285441,LOC285501,LOC285540,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC728040,LOC728175,LOC731424,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRRC66,LSM6,MAB21L2,MAD2L1,MAML3,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR3945,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4799,MIR4801,MIR4802,MIR548AJ2,MIR548AX,MIR5684,MIR5705,MIR573,MIR574,MIR575,MIR577,MIR578,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRPL1,MRPS18C,MSMO1,MTHFD2L,MTNR1A,MTTP,MUC7,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX6-1,NMU,NOA1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCNAP1,PDCL2,PDE5A,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RHOH,RNF150,RNF175,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,SAP30,SCARB2,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3D19,SH3RF1,SHISA3,SHROOM3,SLAIN2,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STOX2,STPG2,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACR3,TAPT1,TBC1D1,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP38,USP46,USP53,UTP3,VEGFC,WDFY3,WDFY3-AS2,WDR17,WDR19,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZCCHC4,ZFP42,ZNF330,ZNF827 chr4 15200000 191154276 Loss Diffuse large b-cell lymphoma Array CGH 16317097 AADAT,AASDH,ABCE1,ABCG2,ACSL1,ADAD1,ADAM29,ADAMTS3,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,AFF1,AFM,AFP,AGA,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD37,ANKRD50,ANP32C,ANTXR2,ANXA10,ANXA2P1,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARFIP1,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ASB5,ASIC5,ATOH1,ATP10D,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BMP2K,BMP3,BMPR1B,BST1,BTC,C1QTNF7,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf27,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf45,C4orf46,C4orf47,C4orf51,C4orf52,CABS1,CAMK2D,CASP3,CASP6,CBR4,CC2D2A,CCDC109B,CCDC110,CCDC111,CCDC149,CCDC158,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CD38,CDKL2,CDKN2AIP,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CEP44,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLCN3,CLDN22,CLDN24,CLGN,CLOCK,CLRN2,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CPE,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CTSO,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,CYP4V2,DANCR,DAPP1,DCAF16,DCAF4L1,DCHS2,DCK,DCLK2,DCTD,DCUN1D4,DDIT4L,DDX60,DDX60L,DHX15,DKFZP434I0714,DKK2,DMP1,DNAJB14,DSPP,DTHD1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,ENPP6,EPGN,EPHA5,EREG,ERVMER34-1,ETFDH,EXOC1,EXOSC9,F11,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM149A,FAM160A1,FAM175A,FAM184B,FAM190A,FAM198B,FAM200B,FAM218A,FAM47E,FAM47E-STBD1,FAM92A1P2,FAT1,FAT4,FBXL5,FBXO8,FBXW7,FDCSP,FGA,FGB,FGF2,FGF5,FGFBP1,FGFBP2,FGG,FHDC1,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FLJ38576,FLJ39653,FNIP2,FRAS1,FREM3,FRG1,FRG2,FRYL,FSTL5,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GALNT7,GALNTL6,GAR1,GBA3,GC,GDEP,GIMD1,GK2,GK3P,GLRA3,GLRB,GNPDA2,GNRHR,GPM6A,GPR125,GPRIN3,GRIA2,GRID2,GRSF1,GRXCR1,GSTCD,GSX2,GUCY1A3,GUCY1B3,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HAND2,HELQ,HELT,HERC3,HERC5,HERC6,HHIP,HHIP-AS1,HMGB2,HNRNPD,HNRPDL,HOPX,HPGD,HPGDS,HPSE,HSD17B11,HSD17B13,HSP90AA4P,HSP90AA6P,HSP90AB3P,HSPA4L,HTN1,HTN3,IBSP,IGFBP7,IGJ,IL15,IL2,IL21,IL8,ING2,INPP4B,INTS12,INTU,IRF2,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0922,KIAA1109,KIAA1211,KIAA1239,KIAA1430,KIT,KLB,KLF3,KLHL2,KLHL5,KLHL8,KLKB1,LAMTOR3,LAP3,LARP1B,LARP7,LCORL,LDB2,LEF1,LEF1-AS1,LGI2,LIAS,LIMCH1,LIN54,LINC00290,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100144602,LOC100288255,LOC100505545,LOC100505702,LOC100505875,LOC100505912,LOC100505989,LOC100506013,LOC100506035,LOC100506085,LOC100506122,LOC100506229,LOC100506746,LOC100507053,LOC152578,LOC255130,LOC256880,LOC285419,LOC285441,LOC285501,LOC285540,LOC339975,LOC340017,LOC344967,LOC389247,LOC401127,LOC401134,LOC401164,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC728040,LOC728175,LOC731424,LPHN3,LRAT,LRBA,LRIT3,LRP2BP,LRRC66,LSM6,MAB21L2,MAD2L1,MAML3,MANBA,MAP9,MAPK10,MARCH1,MED28,MEPE,METAP1,METTL14,MFAP3L,MFSD8,MGARP,MGC45800,MGST2,MIR1243,MIR1305,MIR1973,MIR2054,MIR218-1,MIR302A,MIR302B,MIR302C,MIR302D,MIR3140,MIR367,MIR3684,MIR3688-1,MIR3688-2,MIR3945,MIR4275,MIR4276,MIR4449,MIR4450,MIR4451,MIR4453,MIR4799,MIR4801,MIR4802,MIR548AJ2,MIR548AX,MIR5684,MIR5705,MIR573,MIR574,MIR575,MIR577,MIR578,MLF1IP,MMAA,MMRN1,MND1,MOB1B,MRPL1,MRPS18C,MSMO1,MTHFD2L,MTNR1A,MTTP,MUC7,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAF1,NAP1L5,NBLA00301,NCAPG,NDNF,NDST3,NDST4,NDUFC1,NEIL3,NEK1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX6-1,NMU,NOA1,NPFFR2,NPNT,NPY1R,NPY2R,NPY5R,NR3C2,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,ODZ3,OSTC,OTUD4,PABPC4L,PACRGL,PAICS,PALLD,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCNAP1,PDCL2,PDE5A,PDGFC,PDGFRA,PDHA2,PDLIM3,PDLIM5,PDS5A,PET112,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,PLRG1,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPID,PPM1K,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PROM1,PRSS12,PRSS48,PTPN13,PTTG2,PYURF,QDPR,QRFPR,RAB33B,RAP1GDS1,RAPGEF2,RASGEF1B,RASL11B,RASSF6,RBM46,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RHOH,RNF150,RNF175,RPL21P44,RPL34,RPL34-AS1,RPL9,RPS3A,RRH,RUFY3,RWDD4,RXFP1,SAP30,SCARB2,SCD5,SCFD2,SCLT1,SCOC,SCRG1,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SFRP2,SGCB,SGMS2,SH3D19,SH3RF1,SHISA3,SHROOM3,SLAIN2,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC25A4,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SLED1,SLIT2,SLIT2-IT1,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SNORD73A,SNX25,SOD3,SORBS2,SOWAHB,SPARCL1,SPATA18,SPATA4,SPATA5,SPCS3,SPINK2,SPOCK3,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STOX2,STPG2,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACR3,TAPT1,TBC1D1,TBC1D19,TBC1D9,TBCK,TDO2,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TIGD4,TKTL2,TLL1,TLR1,TLR10,TLR2,TLR3,TLR6,TMA16,TMEM144,TMEM150C,TMEM154,TMEM155,TMEM156,TMEM165,TMEM184C,TMEM192,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP3,TRAM1L1,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,TRMT10A,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UFSP2,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP38,USP46,USP53,UTP3,VEGFC,WDFY3,WDFY3-AS2,WDR17,WDR19,WWC2,WWC2-AS2,YIPF7,YTHDC1,ZAR1,ZCCHC4,ZFP42,ZNF330,ZNF827 chr4 1 5200000 Gain Normal Human genome CGH 79k ARRAY PLATFORM 22144094 ABCA11P,ADD1,ADRA2C,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,CYTL1,DGKQ,DOK7,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,GAK,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC100133461,LOC100507266,LOC402160,LRPAP1,LYAR,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,STK32B,STX18,TACC3,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 152041187 152069170 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 SH3D19 chr4 152053479 152069442 Gain Normal Birdsuite, version 1.5.2 22087296 SH3D19 chr4 152069442 152095800 Gain or loss Normal Birdsuite, version 1.5.2 22087296 SH3D19 chr4 152075949 152427171 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 FAM160A1,PRSS48,SH3D19 chr4 152077863 152100578 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SH3D19 chr4 152077863 152100851 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SH3D19 chr4 152095800 152252680 Gain Normal Birdsuite, version 1.5.2 22087296 PRSS48,SH3D19 chr4 152099363 152105854 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 SH3D19 chr4 1521278 15080587 Copy number Autism exome sequencing 22495311 ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,BLOC1S4,BOD1L1,C4orf48,C4orf6,CCDC96,CLNK,CPEB2,CPZ,CRMP1,CYTL1,DEFB131,DOK7,DRD5,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FLJ35424,FLJ36777,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,JAKMIP1,KIAA0232,LETM1,LOC100129931,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC152742,LOC285484,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAN2B2,MFSD10,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,NAT8L,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,POLN,PPP2R2C,PSAPL1,RAB28,RGS12,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC2A9,SORCS2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMEM128,TMEM129,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF518B chr4 15215252 15266111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 15215252 15266111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 15216519 15222984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 152224619 152248721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 152225514 152265635 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 152240204 152245252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 152240204 152245252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 152242659 152242730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 152244429 152244493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 152260886 152367022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM160A1 chr4 152260886 152367022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM160A1 chr4 152300259 152723977 Deletion Intellectual disability Array CGH 22102821 FAM160A1,PET112 chr4 152305850 152306263 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 152324798 152699215 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM160A1,PET112 chr4 15233230 15395169 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QTNF7 chr4 15233230 15425789 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QTNF7 chr4 15233230 15425789 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QTNF7 chr4 15237675 15238603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 152378368 152383407 Gain and loss Pancreatic cancer SNP array 17952125 FAM160A1 chr4 152380813 152380886 Gain and loss Pancreatic cancer SNP array 17952125 FAM160A1 chr4 152380814 152380885 Gain and loss Pancreatic cancer SNP array 17952125 FAM160A1 chr4 152382584 152382648 Gain and loss Pancreatic cancer SNP array 17952125 FAM160A1 chr4 152394227 152394327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM160A1 chr4 152399044 152505177 Gain and loss Pancreatic cancer SNP array 17952125 FAM160A1 chr4 152401078 152401148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM160A1 chr4 152417775 152432055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM160A1 chr4 152417775 152432055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM160A1 chr4 152437034 152470582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM160A1 chr4 152471991 152473576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM160A1 chr4 15247398 15249228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 15249414 15251506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 15252349 15255213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 152549847 152804234 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 FAM160A1,PET112 chr4 152549848 152806069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM160A1,PET112 chr4 15255430 15265924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 152555930 152570210 Gain and loss Pancreatic cancer SNP array 17952125 FAM160A1 chr4 152558001 152563000 Deletion Glioma mate-paired sequence 20126413 FAM160A1 chr4 152560156 152561002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAM160A1 chr4 152600304 152631983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PET112 chr4 15261046 15425789 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 C1QTNF7 chr4 152693955 153255193 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FBXW7 chr4 152693955 153255193 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FBXW7 chr4 152699358 152699458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 152706325 152706411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 152715192 152941511 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 152717368 152717522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 152771372 152771472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 152796073 152796156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 152811462 152901609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 152811462 152901609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 15281298 16178624 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 BST1,C1QTNF7,CC2D2A,CD38,FAM200B,FBXL5,FGFBP1,FGFBP2,PROM1,TAPT1 chr4 15282423 15333282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 152829602 152829692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 152855523 152855677 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 152920933 153981712 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ARFIP1,DKFZP434I0714,FBXW7,FHDC1,MIR3140,MIR4453,TIGD4,TMEM154 chr4 1529401 1529546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 152940222 152984972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 152949617 153039764 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 152960769 153984935 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ARFIP1,DKFZP434I0714,FBXW7,FHDC1,MIR3140,MIR4453,TIGD4,TMEM154 chr4 152964781 152996216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 152997924 152998485 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 152997975 152998442 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 152998233 152998333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 15300000 48700000 Loss Breast cancer Array CGH 16608533 ANAPC4,APBB2,ARAP2,ATP10D,ATP8A1,BEND4,BST1,C1QTNF7,C4orf19,C4orf34,C4orf52,CC2D2A,CCDC149,CCKAR,CD38,CHRNA9,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,DCAF16,DCAF4L1,DHX15,DTHD1,FAM114A1,FAM184B,FAM200B,FBXL5,FGFBP1,FGFBP2,FLJ13197,FLJ39653,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GBA3,GNPDA2,GPR125,GRXCR1,GUF1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LGI2,LIAS,LIMCH1,LOC100505912,LOC285540,LOC344967,LOC401127,MED28,MIR218-1,MIR4275,MIR4801,MIR4802,MIR548AJ2,MIR548AX,MIR573,MIR574,N4BP2,NCAPG,NFXL1,NIPAL1,NSUN7,PACRGL,PCDH7,PDS5A,PGM2,PHOX2B,PI4K2B,PPARGC1A,PROM1,PTTG2,QDPR,RBM47,RBPJ,RELL1,RFC1,RHOH,RPL9,SEL1L3,SEPSECS,SHISA3,SLAIN2,SLC10A4,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TAPT1,TBC1D1,TBC1D19,TEC,TLR1,TLR10,TLR6,TMEM156,TMEM33,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,WDR19,YIPF7,ZAR1,ZCCHC4 chr4 1 5300000 Duplication abnormal development HR-CGH, Array-CGH 18461090 ABCA11P,ADD1,ADRA2C,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,CYTL1,DGKQ,DOK7,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,GAK,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC100133461,LOC100507266,LOC402160,LRPAP1,LYAR,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,STK32B,STX18,TACC3,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 153002229 153808632 LOH Normal High-resolution SNP genotyping 21211785 ARFIP1,DKFZP434I0714,FBXW7,MIR3140,MIR4453,TIGD4,TMEM154 chr4 153003111 153163479 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 153007601 153016100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 153008843 153010978 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 153009237 153014233 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr4 153009615 153014171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 153010979 153010983 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 153010983 153012329 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 153010983 153012341 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 153012341 153014149 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 153036030 153036130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 153038816 153060062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 153094930 153095024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 153112093 153112202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 153118074 153120424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 15313739 15343508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF7 chr4 15313739 15343508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF7 chr4 153147391 153152305 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 NOT_FOUND chr4 153162446 153162546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 153163048 190802659 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 AADAT,ACSL1,ADAM29,AGA,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,CASP3,CBR4,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CPE,CTSO,CYP4V2,DCHS2,DCTD,DDX60,DDX60L,DKFZP434I0714,ENPP6,ETFDH,F11,FAM149A,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FSTL5,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,ING2,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRP2BP,MAP9,MARCH1,MFAP3L,MGC45800,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR5684,MIR578,MLF1IP,MND1,MSMO1,MTNR1A,NAF1,NBLA00301,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,ODZ3,PALLD,PDGFC,PDLIM3,PLRG1,PPID,RAPGEF2,RBM46,RNF175,RWDD4,RXFP1,SAP30,SCRG1,SFRP2,SH3RF1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 153203765 153212191 Copy number Type 2 diabetes ILLumia HumanHap311 BeadChip 21526130 NOT_FOUND chr4 153205591 153205680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 153209736 153212191 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 153209762 153213396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 153228721 153228821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 153229102 156118173 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANXA2P1,ARFIP1,DCHS2,DKFZP434I0714,FBXW7,FGA,FGB,FGG,FHDC1,KIAA0922,LRAT,MIR3140,MIR4453,MND1,PLRG1,RBM46,RNF175,SFRP2,TIGD4,TLR2,TMEM154,TRIM2 chr4 153242410 153243031 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 FBXW7 chr4 153250248 153250357 Gain and loss Pancreatic cancer SNP array 17952125 FBXW7 chr4 153295035 153295135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXW7 chr4 153332805 153332904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXW7 chr4 153351756 153351856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXW7 chr4 153366202 191259440 Decrease Cancer CGH 20581869 AADAT,ACSL1,ADAM29,AGA,ANKRD37,ANP32C,ANXA10,ANXA2P1,ARFIP1,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,CASP3,CBR4,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CPE,CTSO,CYP4V2,DCHS2,DCTD,DDX60,DDX60L,DKFZP434I0714,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,ETFDH,F11,FAM149A,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FBXW7,FGA,FGB,FGG,FHDC1,FLJ38576,FNIP2,FRG1,FRG2,FSTL5,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,ING2,IRF2,KIAA0922,KIAA1430,KLHL2,KLKB1,LINC00290,LOC100288255,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRP2BP,MAP9,MARCH1,MFAP3L,MGC45800,MIR1305,MIR3140,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR4453,MIR5684,MIR578,MLF1IP,MND1,MSMO1,MTNR1A,NAF1,NBLA00301,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,ODZ3,PALLD,PDGFC,PDLIM3,PLRG1,PPID,RAPGEF2,RBM46,RNF175,RWDD4,RXFP1,SAP30,SCRG1,SFRP2,SH3RF1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TDO2,TIGD4,TKTL2,TLL1,TLR2,TLR3,TMA16,TMEM144,TMEM154,TMEM192,TRAPPC11,TRIM2,TRIM60,TRIM61,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 1533687 1533762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 153376558 153376654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FBXW7 chr4 153404751 153405047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXW7 chr4 153446894 153493357 Deletion Breast cancer Illumina 1M duo array 20393555 DKFZP434I0714,FBXW7,MIR4453 chr4 153461859 153675793 Copy number Lung cancer - 20668451 TMEM154 chr4 153461859 153675793 Gain or loss Breast cancer - 20668451 TMEM154 chr4 153461859 153675793 Gain or loss Cancer - 20668451 TMEM154 chr4 153461859 153675793 Gain or loss Lung cancer - 20668451 TMEM154 chr4 153461859 153675793 Gain or loss Ovarian cancer - 20668451 TMEM154 chr4 153461859 153675793 Gain or loss Pancreas cancer - 20668451 TMEM154 chr4 153461859 153675793 Gain or loss Prostate cancer - 20668451 TMEM154 chr4 153461860 153675622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TMEM154 chr4 153461860 153675622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TMEM154 chr4 153465213 153465282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 15348312 15348531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C1QTNF7 chr4 153500046 153500146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 153517354 154503136 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-462K arrays 21546498 ANXA2P1,ARFIP1,FHDC1,KIAA0922,MND1,TIGD4,TMEM154,TRIM2 chr4 153542906 153543202 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 153577335 154144446 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-439K arrays 21546498 ARFIP1,FHDC1,TIGD4,TMEM154,TRIM2 chr4 153577335 154818740 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 ANXA2P1,ARFIP1,FHDC1,KIAA0922,MND1,RNF175,SFRP2,TIGD4,TLR2,TMEM154,TRIM2 chr4 153577335 154818740 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-454K arrays 21546498 ANXA2P1,ARFIP1,FHDC1,KIAA0922,MND1,RNF175,SFRP2,TIGD4,TLR2,TMEM154,TRIM2 chr4 153600016 153690635 Gain and loss Pancreatic cancer SNP array 17952125 TIGD4,TMEM154 chr4 153602210 153628737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 15369484 15377928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C1QTNF7 chr4 153701076 153701151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARFIP1 chr4 153701111 153833062 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 ARFIP1 chr4 153751040 154252777 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA2P1,ARFIP1,FHDC1,TRIM2 chr4 153766727 153820641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ARFIP1 chr4 153766727 153820641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ARFIP1 chr4 15380910 15410064 Gain and loss Pancreatic cancer SNP array 17952125 C1QTNF7 chr4 153815021 153818019 Gain and loss Pancreatic cancer SNP array 17952125 ARFIP1 chr4 153820037 153881294 Amplification or deletion Cancer Array CGH 17440070 ARFIP1,FHDC1 chr4 153824944 153825044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ARFIP1 chr4 153860047 153861047 Loss Chordoma References 21215367 NOT_FOUND chr4 15389029 15459806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF7 chr4 15389029 15459806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C1QTNF7 chr4 153903564 153915366 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 153904882 153958796 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 153909958 153920343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 153909958 153920343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 153920562 154052514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 153920562 154052514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 153927104 153927204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 153995461 153995561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 154005220 154012204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 154007825 154007915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 154048113 154058498 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 154058728 154190666 Gain and loss Pancreatic cancer SNP array 17952125 TRIM2 chr4 154068032 154069408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 154068032 154069408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 154083585 154120298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRIM2 chr4 154083585 154120298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRIM2 chr4 15410700 15410775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1QTNF7 chr4 154108830 154108924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRIM2 chr4 154115501 154117500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TRIM2 chr4 15414899 15414999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C1QTNF7 chr4 154149833 154657415 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANXA2P1,KIAA0922,MND1,RNF175,TLR2,TRIM2 chr4 154166039 154413947 Copy number gain Normal High-resolution SNP genotyping 21211785 ANXA2P1,KIAA0922,MND1,TRIM2 chr4 154206203 154206964 Gain and loss Pancreatic cancer SNP array 17952125 TRIM2 chr4 154216678 155044802 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANXA2P1,KIAA0922,MND1,RNF175,SFRP2,TLR2,TRIM2 chr4 154221740 154258443 Gain and loss Pancreatic cancer SNP array 17952125 ANXA2P1,TRIM2 chr4 154269175 154278272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MND1 chr4 154272513 154272609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MND1 chr4 154345068 154479924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0922 chr4 154345068 154479924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0922 chr4 154374725 154374825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 154386445 154387445 Loss Chordoma References 21215367 NOT_FOUND chr4 154397527 154397607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KIAA0922 chr4 154407511 154407612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0922 chr4 154439836 154473555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA0922 chr4 154441951 154475822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KIAA0922 chr4 154448392 154449376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0922 chr4 154451921 154454465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA0922 chr4 15447928 15448061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 154485251 154555693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KIAA0922 chr4 154485251 154555693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0922 chr4 154518719 156030595 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCHS2,FGA,FGB,FGG,KIAA0922,LRAT,PLRG1,RBM46,RNF175,SFRP2,TLR2 chr4 154522327 154522617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0922 chr4 154522329 154522617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KIAA0922 chr4 154536160 154615104 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0922,TLR2 chr4 154545668 154545767 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0922 chr4 154545670 154545767 Gain and loss Pancreatic cancer SNP array 17952125 KIAA0922 chr4 154561070 154589179 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 15456200 15526977 Gain and loss Pancreatic cancer SNP array 17952125 CC2D2A chr4 154566085 154566185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 154567973 154568273 Gain Chordoma References 21215367 NOT_FOUND chr4 154586547 154587531 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 154606948 154777313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RNF175,SFRP2,TLR2 chr4 154606948 154777313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF175,SFRP2,TLR2 chr4 154623406 154693848 Gain and loss Pancreatic cancer SNP array 17952125 RNF175,TLR2 chr4 154657415 157167126 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ASIC5,CTSO,DCHS2,FGA,FGB,FGG,GUCY1A3,GUCY1B3,LRAT,MAP9,NPY2R,PLRG1,RBM46,RNF175,SFRP2,TDO2 chr4 15465752 15682519 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CC2D2A,FBXL5 chr4 154660482 154660772 Gain and loss Pancreatic cancer SNP array 17952125 RNF175 chr4 154672402 155048606 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 RNF175,SFRP2 chr4 15470300 15470965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 154706190 154706290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SFRP2 chr4 15473194 15473284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CC2D2A chr4 154745157 154915461 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 154824890 154846692 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 154824890 154846692 Gain or loss Cancer - 20668451 NOT_FOUND chr4 154824890 154846692 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 154824890 154846692 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 154824890 154846692 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 154824890 154846692 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 154843472 154846688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 154843472 154846688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 154850763 154900837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 154850763 154900837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 154867323 154895310 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 154882440 154882523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 154916626 154961665 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 154921191 154929678 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 154921191 154929678 Gain or loss Cancer - 20668451 NOT_FOUND chr4 154921191 154929678 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 154921191 154929678 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 154921191 154929678 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 154921191 154929678 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 154921191 154929678 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr4 154921194 154929678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 154921194 154929678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 154937350 154938409 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 154980257 154984456 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 154988918 155038992 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 154993065 154993165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 155012355 156526894 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCHS2,FGA,FGB,FGG,LRAT,MAP9,NPY2R,PLRG1,RBM46 chr4 155015709 155015803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 15502205 15502291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CC2D2A chr4 15503379 15503472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CC2D2A chr4 155059349 155067592 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 155100000 161500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASIC5,C4orf45,C4orf46,CTSO,DCHS2,ETFDH,FAM198B,FGA,FGB,FGG,FNIP2,GLRB,GRIA2,GUCY1A3,GUCY1B3,LOC340017,LRAT,MAP9,MIR3688-1,MIR3688-2,NPY2R,PDGFC,PLRG1,PPID,RAPGEF2,RBM46,RXFP1,TDO2,TMEM144 chr4 155100000 161500000 Copy number Normal - 21701786 ASIC5,C4orf45,C4orf46,CTSO,DCHS2,ETFDH,FAM198B,FGA,FGB,FGG,FNIP2,GLRB,GRIA2,GUCY1A3,GUCY1B3,LOC340017,LRAT,MAP9,MIR3688-1,MIR3688-2,NPY2R,PDGFC,PLRG1,PPID,RAPGEF2,RBM46,RXFP1,TDO2,TMEM144 chr4 155100000 161500000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 ASIC5,C4orf45,C4orf46,CTSO,DCHS2,ETFDH,FAM198B,FGA,FGB,FGG,FNIP2,GLRB,GRIA2,GUCY1A3,GUCY1B3,LOC340017,LRAT,MAP9,MIR3688-1,MIR3688-2,NPY2R,PDGFC,PLRG1,PPID,RAPGEF2,RBM46,RXFP1,TDO2,TMEM144 chr4 155100000 161500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASIC5,C4orf45,C4orf46,CTSO,DCHS2,ETFDH,FAM198B,FGA,FGB,FGG,FNIP2,GLRB,GRIA2,GUCY1A3,GUCY1B3,LOC340017,LRAT,MAP9,MIR3688-1,MIR3688-2,NPY2R,PDGFC,PLRG1,PPID,RAPGEF2,RBM46,RXFP1,TDO2,TMEM144 chr4 155100000 161500000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 ASIC5,C4orf45,C4orf46,CTSO,DCHS2,ETFDH,FAM198B,FGA,FGB,FGG,FNIP2,GLRB,GRIA2,GUCY1A3,GUCY1B3,LOC340017,LRAT,MAP9,MIR3688-1,MIR3688-2,NPY2R,PDGFC,PLRG1,PPID,RAPGEF2,RBM46,RXFP1,TDO2,TMEM144 chr4 155100000 170400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ANP32C,ANXA10,ASIC5,C4orf45,C4orf46,CBR4,CPE,CTSO,DCHS2,DDX60,DDX60L,ETFDH,FAM198B,FAM218A,FGA,FGB,FGG,FNIP2,FSTL5,GK3P,GLRB,GRIA2,GUCY1A3,GUCY1B3,KLHL2,LOC100505989,LOC100506013,LOC340017,LRAT,MAP9,MARCH1,MIR3688-1,MIR3688-2,MIR5684,MIR578,MSMO1,NAF1,NEK1,NPY1R,NPY2R,NPY5R,PALLD,PDGFC,PLRG1,PPID,RAPGEF2,RBM46,RXFP1,SH3RF1,SPOCK3,TDO2,TKTL2,TLL1,TMA16,TMEM144,TMEM192,TRIM60,TRIM61 chr4 155108378 155108478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 155125184 155126184 Gain Chordoma References 21215367 NOT_FOUND chr4 155159776 155160776 Loss Chordoma References 21215367 DCHS2 chr4 155164041 155165041 Loss Chordoma References 21215367 DCHS2 chr4 155208131 155241394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCHS2 chr4 155216698 155216798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCHS2 chr4 155273908 155274908 Gain Chordoma References 21215367 DCHS2 chr4 155274085 155275085 Gain Chordoma References 21215367 DCHS2 chr4 15529175 15529234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CC2D2A chr4 155295787 155295887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCHS2 chr4 155307476 155307576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCHS2 chr4 155353811 155353911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCHS2 chr4 155375138 155632318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DCHS2,FGA,FGB,FGG,PLRG1 chr4 155375138 155632318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCHS2,FGA,FGB,FGG,PLRG1 chr4 155412736 155412836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DCHS2 chr4 155431001 155451952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 155431005 155438221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 155432340 155436520 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 155434439 155452231 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 155434464 155461877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PLRG1 chr4 155456157 155456711 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 PLRG1 chr4 15546290 15549461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CC2D2A chr4 15546290 15549461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CC2D2A chr4 155513132 155770473 Gain and loss Pancreatic cancer SNP array 17952125 FGG,LRAT,RBM46 chr4 155589198 155590198 Gain Chordoma References 21215367 NOT_FOUND chr4 155594968 155595968 Gain Chordoma References 21215367 NOT_FOUND chr4 155600000 161800000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 ASIC5,C4orf45,C4orf46,CTSO,ETFDH,FAM198B,FNIP2,GLRB,GRIA2,GUCY1A3,GUCY1B3,LOC340017,LRAT,MAP9,MIR3688-1,MIR3688-2,NPY2R,PDGFC,PPID,RAPGEF2,RBM46,RXFP1,TDO2,TMEM144 chr4 155600000 170100000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ANP32C,ANXA10,ASIC5,C4orf45,C4orf46,CBR4,CPE,CTSO,DDX60,DDX60L,ETFDH,FAM198B,FAM218A,FNIP2,FSTL5,GK3P,GLRB,GRIA2,GUCY1A3,GUCY1B3,KLHL2,LOC100505989,LOC100506013,LOC340017,LRAT,MAP9,MARCH1,MIR3688-1,MIR3688-2,MIR5684,MIR578,MSMO1,NAF1,NPY1R,NPY2R,NPY5R,PALLD,PDGFC,PPID,RAPGEF2,RBM46,RXFP1,SH3RF1,SPOCK3,TDO2,TKTL2,TLL1,TMA16,TMEM144,TMEM192,TRIM60,TRIM61 chr4 155600000 170100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ANP32C,ANXA10,ASIC5,C4orf45,C4orf46,CBR4,CPE,CTSO,DDX60,DDX60L,ETFDH,FAM198B,FAM218A,FNIP2,FSTL5,GK3P,GLRB,GRIA2,GUCY1A3,GUCY1B3,KLHL2,LOC100505989,LOC100506013,LOC340017,LRAT,MAP9,MARCH1,MIR3688-1,MIR3688-2,MIR5684,MIR578,MSMO1,NAF1,NPY1R,NPY2R,NPY5R,PALLD,PDGFC,PPID,RAPGEF2,RBM46,RXFP1,SH3RF1,SPOCK3,TDO2,TKTL2,TLL1,TMA16,TMEM144,TMEM192,TRIM60,TRIM61 chr4 155600000 171900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AADAT,ANP32C,ANXA10,ASIC5,C4orf27,C4orf45,C4orf46,CBR4,CLCN3,CPE,CTSO,DDX60,DDX60L,ETFDH,FAM198B,FAM218A,FNIP2,FSTL5,GK3P,GLRB,GRIA2,GUCY1A3,GUCY1B3,HSP90AA6P,KLHL2,LOC100505989,LOC100506013,LOC100506085,LOC340017,LRAT,MAP9,MARCH1,MFAP3L,MIR3688-1,MIR3688-2,MIR5684,MIR578,MSMO1,NAF1,NEK1,NPY1R,NPY2R,NPY5R,PALLD,PDGFC,PPID,RAPGEF2,RBM46,RXFP1,SH3RF1,SPOCK3,TDO2,TKTL2,TLL1,TMA16,TMEM144,TMEM192,TRIM60,TRIM61 chr4 155600000 191154276 Deletion Hepatocellular carcinoma Array CGH 16750200 AADAT,ACSL1,ADAM29,AGA,ANKRD37,ANP32C,ANXA10,ASB5,ASIC5,C4orf27,C4orf45,C4orf46,C4orf47,CASP3,CBR4,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CPE,CTSO,CYP4V2,DCTD,DDX60,DDX60L,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,ETFDH,F11,FAM149A,FAM198B,FAM218A,FAM92A1P2,FAT1,FBXO8,FLJ38576,FNIP2,FRG1,FRG2,FSTL5,GALNT7,GALNTL6,GK3P,GLRA3,GLRB,GPM6A,GRIA2,GUCY1A3,GUCY1B3,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,ING2,IRF2,KIAA1430,KLHL2,KLKB1,LINC00290,LOC100288255,LOC100505989,LOC100506013,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC340017,LOC389247,LOC401164,LOC728175,LOC731424,LRAT,LRP2BP,MAP9,MARCH1,MFAP3L,MGC45800,MIR1305,MIR3688-1,MIR3688-2,MIR3945,MIR4276,MIR5684,MIR578,MLF1IP,MSMO1,MTNR1A,NAF1,NBLA00301,NEIL3,NEK1,NPY1R,NPY2R,NPY5R,ODZ3,PALLD,PDGFC,PDLIM3,PPID,RAPGEF2,RBM46,RWDD4,RXFP1,SAP30,SCRG1,SH3RF1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TDO2,TKTL2,TLL1,TLR3,TMA16,TMEM144,TMEM192,TRAPPC11,TRIM60,TRIM61,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 155604445 155619055 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 155630001 155632000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 15563204 15563239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CC2D2A chr4 155677113 155690973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 155677113 155690973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 155684535 155684639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 155703596 155711683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM46 chr4 155703596 155711683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM46 chr4 15570971 15573957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CC2D2A chr4 15570971 15573957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CC2D2A chr4 155723730 155731368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM46 chr4 155723730 155731368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM46 chr4 155732831 155753451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBM46 chr4 155732831 155753451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBM46 chr4 15574385 15694766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CC2D2A,FAM200B,FBXL5 chr4 15578047 15585002 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CC2D2A chr4 155797801 156348207 Copy number loss Normal High-resolution SNP genotyping 21211785 MAP9,NPY2R chr4 155797801 156348207 LOH Normal High-resolution SNP genotyping 21211785 MAP9,NPY2R chr4 155797801 156351780 Copy number loss Normal High-resolution SNP genotyping 21211785 MAP9,NPY2R chr4 155797801 156351780 LOH Normal High-resolution SNP genotyping 21211785 MAP9,NPY2R chr4 155813763 155829153 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 155822690 155822793 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 155822690 155822794 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 155825482 155825782 Gain Chordoma References 21215367 NOT_FOUND chr4 155826091 155869501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 155830044 155830134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 155841768 155849841 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 155882895 155891412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 155884602 155893720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 155884602 155893720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 155884613 155893720 Copy number Autism exome sequencing 22495311 NOT_FOUND chr4 155921950 155969414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 155921950 155969414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 155927720 155927911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1559306 1559389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 155943070 155946374 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 155951730 155996238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 155970697 155971697 Loss Chordoma References 21215367 NOT_FOUND chr4 15600000 76500000 Gain Non-small cell lung cancer dChip 21829676 AASDH,ADAMTS3,AFM,AFP,ALB,AMBN,AMTN,ANAPC4,ANKRD17,APBB2,ARAP2,AREG,ARL9,ATP10D,ATP8A1,BEND4,BST1,BTC,C4orf19,C4orf26,C4orf34,C4orf40,C4orf52,CABS1,CC2D2A,CCDC149,CCKAR,CD38,CENPC1,CEP135,CHIC2,CHRNA9,CLOCK,CLRN2,CNGA1,COMMD8,CORIN,COX18,COX7B2,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CWH43,CXCL1,CXCL2,CXCL3,CXCL5,CXCL6,DANCR,DCAF16,DCAF4L1,DCK,DCUN1D4,DHX15,DTHD1,ENAM,EPGN,EPHA5,EREG,ERVMER34-1,EXOC1,FAM114A1,FAM184B,FAM200B,FBXL5,FDCSP,FGFBP1,FGFBP2,FIP1L1,FLJ13197,FLJ39653,FRYL,FTLP10,GABRA2,GABRA4,GABRB1,GABRG1,GBA3,GC,GNPDA2,GNRHR,GPR125,GRSF1,GRXCR1,GSX2,GUF1,HOPX,HTN1,HTN3,IGFBP7,IGJ,IL8,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LGI2,LIAS,LIMCH1,LNX1,LNX1-AS1,LNX1-AS2,LOC100144602,LOC100505912,LOC152578,LOC255130,LOC285540,LOC344967,LOC401127,LOC401134,LOC441025,LOC550112,LOC550113,LOC644145,LOC728040,LPHN3,LRRC66,MED28,MIR218-1,MIR4275,MIR4449,MIR4801,MIR4802,MIR548AJ2,MIR548AX,MIR573,MIR574,MOB1B,MTHFD2L,MUC7,N4BP2,NCAPG,NFXL1,NIPAL1,NMU,NOA1,NPFFR2,NSUN7,OCIAD1,OCIAD2,ODAM,PACRGL,PAICS,PARM1,PCDH7,PDCL2,PDGFRA,PDS5A,PF4,PF4V1,PGM2,PHOX2B,PI4K2B,POLR2B,PPARGC1A,PPAT,PPBP,PPBPP2,PROL1,PROM1,PTTG2,QDPR,RASL11B,RASSF6,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RHOH,RPL21P44,RPL9,RUFY3,SCFD2,SEL1L3,SEPSECS,SGCB,SHISA3,SLAIN2,SLC10A4,SLC30A9,SLC34A2,SLC4A4,SLIT2,SLIT2-IT1,SMR3A,SMR3B,SNORA26,SOD3,SPATA18,SPINK2,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STIM2,SULT1B1,SULT1E1,SYT14L,TAPT1,TBC1D1,TBC1D19,TEC,TECRL,THAP6,THEGL,TLR1,TLR10,TLR6,TMEM156,TMEM165,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TXK,UBA6,UBE2K,UCHL1,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,USP46,UTP3,WDR19,YIPF7,YTHDC1,ZAR1,ZCCHC4 chr4 156019595 156031875 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156022440 156022518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 156022462 156022540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 156027408 156027780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 156060105 156107569 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156065874 156066039 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156065877 156065966 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156069114 156069235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156069131 156069241 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156100031 156100131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 156100068 164071881 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ASIC5,C4orf45,C4orf46,CTSO,ETFDH,FAM198B,FNIP2,FSTL5,GLRB,GRIA2,GUCY1A3,GUCY1B3,LOC340017,MAP9,MIR3688-1,MIR3688-2,NAF1,NPY2R,PDGFC,PPID,RAPGEF2,RXFP1,TDO2,TMEM144 chr4 156105496 156106496 Gain Chordoma References 21215367 NOT_FOUND chr4 15613464 15616240 Gain and loss Pancreatic cancer SNP array 17952125 FBXL5 chr4 15619397 15619508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FBXL5 chr4 156240640 157129281 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASIC5,CTSO,GUCY1A3,GUCY1B3,MAP9,TDO2 chr4 156263809 156264473 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 MAP9 chr4 156280000 158910000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 ASIC5,CTSO,GLRB,GRIA2,GUCY1A3,GUCY1B3,LOC340017,MAP9,PDGFC,TDO2 chr4 156305093 156305193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 156349230 156357678 Copy number Lung cancer - 20668451 NOT_FOUND chr4 156349230 156357678 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 156349230 156357678 Gain or loss Cancer - 20668451 NOT_FOUND chr4 156349230 156357678 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 156349230 156357678 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 156349230 156357678 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 156349230 156357678 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 156349231 156357677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 156349231 156357677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 15638140 15641128 Gain and loss Pancreatic cancer SNP array 17952125 FBXL5 chr4 15646126 15753835 Gain and loss Pancreatic cancer SNP array 17952125 BST1,FAM200B,FBXL5 chr4 156466601 156470900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 156468725 156469124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 156483260 156517572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 156483260 156517572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 156487386 156495826 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156495704 156496301 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 156500492 156500919 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 156524954 156558123 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 156542260 156543260 Loss Chordoma References 21215367 NOT_FOUND chr4 156544080 156545080 Gain Chordoma References 21215367 NOT_FOUND chr4 156554532 156555532 Loss Chordoma References 21215367 NOT_FOUND chr4 156555443 156556443 Loss Chordoma References 21215367 NOT_FOUND chr4 156571693 156571793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 156593060 156593127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156595446 156595516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156595517 156595574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156595576 156595644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156597300 156597366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156597543 156597623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GUCY1A3 chr4 156597713 156597780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156599400 156599468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156600166 156600233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156600235 156600302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156601852 156601917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156602015 156602080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156602091 156602159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156602169 156602236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156603269 156603336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156603338 156603409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156604428 156604502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156606062 156606130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GUCY1A3 chr4 156631434 156655727 Gain and loss Pancreatic cancer SNP array 17952125 GUCY1A3 chr4 156639019 156639127 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GUCY1A3 chr4 156719121 156956835 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASIC5,CTSO,GUCY1B3,TDO2 chr4 156731215 156731282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156733601 156733671 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156733672 156733729 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156733731 156733799 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156735455 156735521 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156735868 156735935 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156737555 156737623 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156738321 156738388 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156738390 156738457 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156740007 156740072 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156740072 156740138 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156740170 156740235 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156740246 156740314 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156740324 156740391 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156741424 156741491 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156741493 156741564 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156741562 156741629 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156742583 156742657 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156744217 156744285 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156744959 156745221 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 156748075 156792564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ASIC5 chr4 156784727 156784877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ASIC5 chr4 156807328 156872926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CTSO,TDO2 chr4 156807328 156872926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CTSO,TDO2 chr4 156813651 156817753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 15686568 15686679 Gain and loss Pancreatic cancer SNP array 17952125 FAM200B chr4 156880883 156880983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 156899661 156951636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 156899661 156951636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 156899664 156947506 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr4 15693001 15694500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 156945483 157011096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 15694911 15695011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 15694990 15697071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 156970331 157006875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 156970331 157006875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 156985232 157017994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 157037816 157094558 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 157044297 157061000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 157044297 157061000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 157064728 157094498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 157064728 157094498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 157108486 157145030 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 157121333 157121408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157167126 157646509 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr4 157173271 157173371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157178789 157193438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 157182452 157199155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 157187425 157188133 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 157188133 157192655 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 1571894 1571979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157192655 157192659 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 157192659 157194147 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 157202883 157232653 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 157221483 157221793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 157223296 157236994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 157225066 157249091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 157229778 157245042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 157229778 157249398 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 157233103 157240275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 157253538 157297875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 1572917 1573629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 15730150 15730250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 BST1 chr4 157330206 158007640 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GLRB,PDGFC chr4 157330206 160233926 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C4orf45,C4orf46,ETFDH,FAM198B,FNIP2,GLRB,GRIA2,LOC340017,MIR3688-1,MIR3688-2,PDGFC,PPID,RAPGEF2,RXFP1,TMEM144 chr4 157378862 157379862 Loss Chordoma References 21215367 NOT_FOUND chr4 15739697 15739742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157417864 157417907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157433203 157433303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157437163 157437248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 157459244 157459338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157461835 157461915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157480164 157513424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 157490807 157490880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157499321 157499621 Gain Chordoma References 21215367 NOT_FOUND chr4 157500498 157500598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157522137 157522218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 157532148 165783964 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 ANP32C,C4orf45,C4orf46,ETFDH,FAM198B,FNIP2,FSTL5,GLRB,GRIA2,LOC100505989,LOC340017,MARCH1,MIR3688-1,MIR3688-2,MIR5684,NAF1,NPY1R,NPY5R,PDGFC,PPID,RAPGEF2,RXFP1,TKTL2,TMA16,TMEM144 chr4 157621269 157621301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157626362 157626437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 157646509 161284180 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 C4orf45,C4orf46,ETFDH,FAM198B,FNIP2,GLRB,GRIA2,LOC340017,MIR3688-1,MIR3688-2,PDGFC,PPID,RAPGEF2,RXFP1,TMEM144 chr4 157649051 157649151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157650623 157650723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157682763 157892547 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 PDGFC chr4 15768447 15768500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157689492 157689592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PDGFC chr4 157707846 157708846 Gain Chordoma References 21215367 PDGFC chr4 15771226 15837259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CD38 chr4 15771226 15837259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CD38 chr4 1577231 1577286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 157776814 157777287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDGFC chr4 157813371 160094237 LOH Normal High-resolution SNP genotyping 21211785 C4orf45,C4orf46,ETFDH,FAM198B,FNIP2,GLRB,GRIA2,LOC340017,MIR3688-1,MIR3688-2,PDGFC,PPID,RXFP1,TMEM144 chr4 157902213 158111996 Gain or loss Breast cancer - 20668451 GLRB chr4 157902213 158111996 Gain or loss Cancer - 20668451 GLRB chr4 157902213 158111996 Gain or loss Lung cancer - 20668451 GLRB chr4 157902213 158111996 Gain or loss Ovarian cancer - 20668451 GLRB chr4 157902213 158111996 Gain or loss Pancreas cancer - 20668451 GLRB chr4 157902213 158111996 Gain or loss Prostate cancer - 20668451 GLRB chr4 157902214 158111996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLRB chr4 157902214 158111996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLRB chr4 157984245 158621187 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 GLRB,GRIA2,LOC340017 chr4 157988716 158023999 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GLRB chr4 157997402 158092418 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 GLRB chr4 158040369 158250151 Gain and loss Pancreatic cancer SNP array 17952125 GLRB,GRIA2 chr4 158051356 158051402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLRB chr4 158104575 158934751 LOH Normal High-resolution SNP genotyping 21211785 GRIA2,LOC340017 chr4 158126974 158127295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 158134973 158135073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158153485 158153579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA2 chr4 158215571 158215671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA2 chr4 158216788 158312299 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 GRIA2 chr4 158216788 158312299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRIA2 chr4 158216788 158312299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRIA2 chr4 158265130 158265457 Gain and loss Pancreatic cancer SNP array 17952125 GRIA2 chr4 158265132 158265452 Gain and loss Pancreatic cancer SNP array 17952125 GRIA2 chr4 158283165 158283265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRIA2 chr4 158307914 159128567 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAM198B,LOC340017 chr4 158312197 158312297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158326687 158327007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 158337198 158337298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158342164 158342270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 158343314 158343397 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 158343314 158343418 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 158354943 158450444 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 158361186 158506677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC340017 chr4 158361186 158506677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC340017 chr4 158361278 158506677 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 LOC340017 chr4 15837383 15868908 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 CD38 chr4 15839188 15904363 Gain and loss Pancreatic cancer SNP array 17952125 CD38 chr4 158480319 158480424 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 158480319 158480425 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 158490178 159207305 Gain Autism - 20841430 FAM198B,LOC340017,TMEM144 chr4 158499481 158643043 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 158509492 158739893 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 158519409 158519509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158590621 159723224 Duplication Normal - 21586113 C4orf46,ETFDH,FAM198B,FNIP2,PPID,RXFP1,TMEM144 chr4 15860790 15895465 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 158626121 158626221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158673788 158673888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 15872181 15872284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158728750 158728837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 158736384 158736484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158764366 158764466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158769485 158804445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 158775206 158779904 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 158783956 158784056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158787571 158787668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158811627 158811727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 15885262 15885347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1588676 1588934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 158907159 158907259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158907270 158907497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158907279 158907379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158908615 158908715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 158947876 158951361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 158975048 158975148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 158982508 160236339 LOH Normal High-resolution SNP genotyping 21211785 C4orf45,C4orf46,ETFDH,FAM198B,FNIP2,MIR3688-1,MIR3688-2,PPID,RAPGEF2,RXFP1,TMEM144 chr4 158986541 158986641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 159001632 159001701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 159003956 160314695 LOH Normal High-resolution SNP genotyping 21211785 C4orf45,C4orf46,ETFDH,FAM198B,FNIP2,MIR3688-1,MIR3688-2,PPID,RAPGEF2,RXFP1,TMEM144 chr4 15900862 16977683 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FGFBP1,FGFBP2,FLJ39653,LDB2,MIR548AX,PROM1,TAPT1 chr4 159034911 159035471 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 159038397 159038649 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 15904555 15906554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 159046771 159046870 Gain and loss Pancreatic cancer SNP array 17952125 FAM198B chr4 159046772 159046870 Gain and loss Pancreatic cancer SNP array 17952125 FAM198B chr4 159070997 159071092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM198B chr4 159157717 159157864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM144 chr4 159157718 159157831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 TMEM144 chr4 159186506 159186606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 159187054 159187228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 15921816 15921916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 159265213 159313652 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 159265213 159313652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 159265213 159313652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1592784 1782006 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM53A,SLBP,TACC3,TMEM129 chr4 159329475 159329575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 159351126 159395886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 159351126 159395886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 159403340 159451807 Gain and loss Pancreatic cancer SNP array 17952125 RXFP1 chr4 159409295 160233926 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C4orf45,C4orf46,ETFDH,FNIP2,MIR3688-1,MIR3688-2,PPID,RAPGEF2,RXFP1 chr4 15948487 15948550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 159489281 159534032 Gain and loss Pancreatic cancer SNP array 17952125 RXFP1 chr4 15949834 15949984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 159524175 160198359 LOH Normal High-resolution SNP genotyping 21211785 C4orf45,C4orf46,ETFDH,FNIP2,MIR3688-1,MIR3688-2,PPID,RAPGEF2,RXFP1 chr4 159535996 159536136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RXFP1 chr4 15954075 15954175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 159557008 159557433 Gain and loss Pancreatic cancer SNP array 17952125 RXFP1 chr4 159579170 159580170 Gain Chordoma References 21215367 NOT_FOUND chr4 159653152 159653252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 159662379 159793969 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FNIP2 chr4 159662379 159793969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FNIP2 chr4 159662379 159793969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FNIP2 chr4 159674151 159674291 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 159674151 159674293 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 159697913 159698013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNIP2 chr4 1597187 1606851 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 159793090 159793160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNIP2 chr4 159793602 159932124 Gain and loss Pancreatic cancer SNP array 17952125 C4orf45,FNIP2 chr4 159793787 159793879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FNIP2 chr4 159807279 159927622 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C4orf45,FNIP2 chr4 159807279 159927622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf45,FNIP2 chr4 159807279 159927622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf45,FNIP2 chr4 159812727 159849292 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C4orf45,FNIP2 chr4 159812727 159849292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf45,FNIP2 chr4 159812727 159849292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf45,FNIP2 chr4 1598232 2237275 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,FAM53A,FGFR3,HAUS3,LETM1,MIR943,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,WHSC1,WHSC2 chr4 159841293 159841510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf45 chr4 159849730 159864002 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 C4orf45 chr4 159849730 159864002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf45 chr4 159849730 159864002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf45 chr4 15987 33257 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 159909632 160047402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf45 chr4 159912904 159913004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C4orf45 chr4 15992584 15992664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROM1 chr4 159929638 159930428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 C4orf45 chr4 159935192 159935298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf45 chr4 159951059 159987438 Gain and loss Pancreatic cancer SNP array 17952125 C4orf45 chr4 159979448 159979665 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 159987885 160002157 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1 6000000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ABCA11P,ADD1,ADRA2C,ATP5I,C4orf48,C4orf6,CPLX1,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DGKQ,DOK7,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,GAK,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC100133461,LOC100507266,LOC402160,LRPAP1,LYAR,MAEA,MFSD10,MFSD7,MIR378D1,MIR4800,MIR943,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,STK32B,STX18,TACC3,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 160034133 160175783 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 MIR3688-1,MIR3688-2 chr4 160045869 160064095 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR3688-1,MIR3688-2 chr4 160047895 160184451 Gain and loss Pancreatic cancer SNP array 17952125 MIR3688-1,MIR3688-2 chr4 160055473 160175783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 160055473 160175783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 160073347 160073453 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 160104841 160821269 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 RAPGEF2 chr4 160140748 160140892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 160152877 160152977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160162833 160162933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160172297 160313938 Gain and loss Pancreatic cancer SNP array 17952125 RAPGEF2 chr4 16019727 16021170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PROM1 chr4 160204899 160205000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RAPGEF2 chr4 160223521 160268224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 RAPGEF2 chr4 16022367 16022467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROM1 chr4 160244766 160245766 Loss Chordoma References 21215367 RAPGEF2 chr4 160250658 160250758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RAPGEF2 chr4 160343056 160343155 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 16036042 16036097 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PROM1 chr4 160387614 160421218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 160408447 160500751 Copy number Lung cancer - 20668451 NOT_FOUND chr4 160408447 160500751 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 160408447 160500751 Gain or loss Cancer - 20668451 NOT_FOUND chr4 160408447 160500751 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 160408447 160500751 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 160408447 160500751 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 160408447 160500751 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 160408447 160500751 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 NOT_FOUND chr4 160408448 160500747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 160408448 160500747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 160421573 160421673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160436316 160436385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 16053284 16053384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PROM1 chr4 160540757 160540857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160541795 161528443 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 160546851 160638904 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 160580943 160581043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160609830 160966505 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 160647493 160647659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 160647991 160648060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 160668962 160669062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160687101 161196013 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 160690446 160690541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160702308 160702408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1607148 1607242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1607417 1607482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160750975 160751059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 160785648 160785814 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 160786146 160786215 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 160816684 160849673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 160885459 163187767 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 FSTL5 chr4 160889701 160889831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 160924547 162509675 Deletion Mortal Illumina 550K array 21835882 FSTL5 chr4 161009864 161043629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 161025961 161040835 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 161025961 161046962 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 1610269 1637699 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 161088130 161088230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161110335 161789266 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 16112261 16509522 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 FLJ39653,LDB2,TAPT1 chr4 16112265 16509425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FLJ39653,LDB2,TAPT1 chr4 16112265 16509425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FLJ39653,LDB2,TAPT1 chr4 161133037 161133137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1611605 1655516 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 FAM53A chr4 1611607 1655516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM53A chr4 1611607 1655516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM53A chr4 161171960 161172276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 161202652 161247315 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 161226969 162027687 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 161233265 161239099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 161253690 161253973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 161253691 161253975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 161255990 161297098 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 161258794 161290832 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr4 161266945 161291593 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 161267629 161267729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161269021 161297098 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 161272220 161286569 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 161282532 161289730 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 NOT_FOUND chr4 161284180 161566170 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr4 161285150 161285250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161291810 161302697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 16130308 16130375 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 161305643 161305726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161360000 167700000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 ANP32C,CPE,FAM218A,FSTL5,GK3P,KLHL2,LOC100505989,LOC100506013,MARCH1,MIR5684,MIR578,MSMO1,NAF1,NPY1R,NPY5R,SPOCK3,TKTL2,TLL1,TMA16,TMEM192,TRIM60,TRIM61 chr4 161361524 161381120 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 16138112 16138212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161393105 161448507 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 161405002 161429812 Loss Normal 244K array 17666407 NOT_FOUND chr4 161419859 161420859 Gain Chordoma References 21215367 NOT_FOUND chr4 161493736 161662790 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 161500000 164500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FSTL5,MARCH1,NAF1,NPY1R,NPY5R,TKTL2,TMA16 chr4 161500000 164500000 Deletion Intellectual disability - 22045946 FSTL5,MARCH1,NAF1,NPY1R,NPY5R,TKTL2,TMA16 chr4 161500000 164500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 FSTL5,MARCH1,NAF1,NPY1R,NPY5R,TKTL2,TMA16 chr4 161529159 161529259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161566170 163455503 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 FSTL5 chr4 161621508 161621608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161662937 161663037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161705636 161705941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 161727569 161909769 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 161749884 162585325 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FSTL5 chr4 161749884 164209458 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FSTL5,NAF1 chr4 16177453 16177553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TAPT1 chr4 16179436 16576596 Gain and loss Pancreatic cancer SNP array 17952125 FLJ39653,LDB2,TAPT1 chr4 161800000 164500000 Loss Gastric cancer Array CGH 16891809 FSTL5,MARCH1,NAF1,NPY1R,NPY5R,TKTL2,TMA16 chr4 1618006 2237275 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,FAM53A,FGFR3,HAUS3,LETM1,MIR943,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,WHSC1,WHSC2 chr4 1618262 1652113 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM53A chr4 161843791 161844096 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 161867 162336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 161925165 163109094 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 FSTL5 chr4 161928476 161928576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161932072 161932172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 161971882 161972048 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 161985401 161985662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 161993023 162154792 Copy number Normal - 20703242 NOT_FOUND chr4 162003569 162003669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 162027687 162078441 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 162050188 162154792 Copy number Type 2 diabetes ILLumia HumanHap302 BeadChip 21526130 NOT_FOUND chr4 162058323 162093438 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 162070665 162104985 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 162075534 162079910 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 162078441 162149537 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 162078441 162149537 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 162079910 162083342 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 162083342 162083343 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 162083343 162151102 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 162093450 162104723 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 162097304 162105303 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr4 162098480 162104393 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 162099078 162104445 Deletion Non-syndromic sensorineural hearing loss 610K,Agilent24M 19587683 NOT_FOUND chr4 162099078 162104445 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 162099468 162104483 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 162099881 162222538 Duplication Schizophrenia NimbleGen HD2 platform 21346763 NOT_FOUND chr4 162099909 162103486 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 NOT_FOUND chr4 162106995 162113340 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 162144479 162144560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 162145690 162145727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 162164752 162223074 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 NOT_FOUND chr4 16216617 16268107 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FLJ39653,TAPT1 chr4 162168748 162226024 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 162168748 162226024 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 1622035 1622129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 162220339 162251058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 162224463 162224563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 162238059 162242475 Gain Normal 244K array 17666407 NOT_FOUND chr4 162255247 162255347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 162356563 162356631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL5 chr4 162402650 162403650 Loss Chronic lymphocytic leukemia References 21215367 FSTL5 chr4 162413794 162424561 Gain Normal Birdsuite, version 1.5.2 22087296 FSTL5 chr4 162443800 162476773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FSTL5 chr4 162459907 162484222 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FSTL5 chr4 162483144 162483266 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 FSTL5 chr4 162483144 162483291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FSTL5 chr4 162485945 162486045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL5 chr4 162524498 163304636 Amplification Intellectual disability 100k SNP Array 21811512 FSTL5 chr4 162524501 163304636 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 FSTL5 chr4 162524501 163304636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FSTL5 chr4 162524501 163304636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FSTL5 chr4 162585001 162629723 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FSTL5 chr4 162600949 162601114 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FSTL5 chr4 162626058 162626158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL5 chr4 162656047 162656121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL5 chr4 162662656 163442791 Gain and loss Pancreatic cancer SNP array 17952125 FSTL5 chr4 162668726 162671116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FSTL5 chr4 162703501 162703533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL5 chr4 162735374 162917315 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FSTL5 chr4 162765152 163000445 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FSTL5 chr4 16284701 16289364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 162873361 162873459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL5 chr4 162906651 162906751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL5 chr4 162926068 162926162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FSTL5 chr4 162995584 162995660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FSTL5 chr4 163092222 163265570 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 163259442 163259572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 163281696 163282014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 16330200 16347930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 16331812 16331912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 163330706 163330806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 163433813 163433908 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr4 163451856 163452164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 163453521 163453671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 163495440 163495515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 163497812 163500937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 16354220 16354598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 163562057 163562127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 163564938 163565038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 163602174 163602625 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 163611161 163611261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 163611701 163617700 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 163613457 163615873 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr4 163700212 163700282 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 163704078 163704201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 163759600 164209458 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NAF1 chr4 163764632 163764732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 16387221 16387316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 164123170 164123270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 164173879 164177282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 16421348 16421508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 16421391 16421769 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 164264395 164264490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 164269275 164307523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NPY5R chr4 164269275 164307523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NPY5R chr4 164288918 164289008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1643330 2441686 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,FAM53A,FGFR3,HAUS3,LETM1,LOC402160,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,WHSC1,WHSC2,ZFYVE28 chr4 164340920 164341020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 164344454 164344881 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 164370753 164404378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TKTL2 chr4 1643765 2237275 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,FAM53A,FGFR3,HAUS3,LETM1,MIR943,NAT8L,POLN,SCARNA22,SLBP,TACC3,TMEM129,WHSC1,WHSC2 chr4 1644001 1683000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM53A chr4 164407430 164445678 Gain and loss Pancreatic cancer SNP array 17952125 MARCH1,TMA16 chr4 16441332 16473732 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 164423214 164440261 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TMA16 chr4 164456982 164457082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164463404 164463489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164464566 164473198 Gain or loss Breast cancer - 20668451 MARCH1 chr4 164464566 164473198 Gain or loss Cancer - 20668451 MARCH1 chr4 164464566 164473198 Gain or loss Lung cancer - 20668451 MARCH1 chr4 164464566 164473198 Gain or loss Ovarian cancer - 20668451 MARCH1 chr4 164464566 164473198 Gain or loss Pancreas cancer - 20668451 MARCH1 chr4 164464566 164473198 Gain or loss Prostate cancer - 20668451 MARCH1 chr4 164464567 164473198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164464567 164473198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164484540 164492536 Gain or loss Breast cancer - 20668451 MARCH1 chr4 164484540 164492536 Gain or loss Cancer - 20668451 MARCH1 chr4 164484540 164492536 Gain or loss Lung cancer - 20668451 MARCH1 chr4 164484540 164492536 Gain or loss Ovarian cancer - 20668451 MARCH1 chr4 164484540 164492536 Gain or loss Pancreas cancer - 20668451 MARCH1 chr4 164484540 164492536 Gain or loss Prostate cancer - 20668451 MARCH1 chr4 164484541 164492534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164484541 164492534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164495305 164517689 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MARCH1 chr4 164495979 164517689 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MARCH1 chr4 164497724 164497814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164500000 170100000 Loss Esophageal squamous carcinoma Array CGH 17470683 ANP32C,ANXA10,CBR4,CPE,DDX60,DDX60L,FAM218A,GK3P,KLHL2,LOC100505989,LOC100506013,MARCH1,MIR5684,MIR578,MSMO1,PALLD,SH3RF1,SPOCK3,TLL1,TMEM192,TRIM60,TRIM61 chr4 164500000 170400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANP32C,ANXA10,CBR4,CPE,DDX60,DDX60L,FAM218A,GK3P,KLHL2,LOC100505989,LOC100506013,MARCH1,MIR5684,MIR578,MSMO1,NEK1,PALLD,SH3RF1,SPOCK3,TLL1,TMEM192,TRIM60,TRIM61 chr4 164500000 170400000 Deletion intellectual deficit array comparative genomic hybridizatio 22127048 ANP32C,ANXA10,CBR4,CPE,DDX60,DDX60L,FAM218A,GK3P,KLHL2,LOC100505989,LOC100506013,MARCH1,MIR5684,MIR578,MSMO1,NEK1,PALLD,SH3RF1,SPOCK3,TLL1,TMEM192,TRIM60,TRIM61 chr4 164500000 170400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANP32C,ANXA10,CBR4,CPE,DDX60,DDX60L,FAM218A,GK3P,KLHL2,LOC100505989,LOC100506013,MARCH1,MIR5684,MIR578,MSMO1,NEK1,PALLD,SH3RF1,SPOCK3,TLL1,TMEM192,TRIM60,TRIM61 chr4 164500000 170400000 Duplication abnormal development HR-CGH, Array-CGH 18461090 ANP32C,ANXA10,CBR4,CPE,DDX60,DDX60L,FAM218A,GK3P,KLHL2,LOC100505989,LOC100506013,MARCH1,MIR5684,MIR578,MSMO1,NEK1,PALLD,SH3RF1,SPOCK3,TLL1,TMEM192,TRIM60,TRIM61 chr4 164500000 171900000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 AADAT,ANP32C,ANXA10,C4orf27,CBR4,CLCN3,CPE,DDX60,DDX60L,FAM218A,GK3P,HSP90AA6P,KLHL2,LOC100505989,LOC100506013,LOC100506085,MARCH1,MFAP3L,MIR5684,MIR578,MSMO1,NEK1,PALLD,SH3RF1,SPOCK3,TLL1,TMEM192,TRIM60,TRIM61 chr4 164521425 164534557 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MARCH1 chr4 164521425 164535142 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MARCH1 chr4 164521425 164547818 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 MARCH1 chr4 164532631 166609967 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANP32C,CPE,FAM218A,GK3P,KLHL2,LOC100505989,LOC100506013,MARCH1,MIR5684,MIR578,MSMO1,TMEM192,TRIM60,TRIM61 chr4 164532631 166770803 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANP32C,CPE,FAM218A,GK3P,KLHL2,LOC100505989,LOC100506013,MARCH1,MIR5684,MIR578,MSMO1,TMEM192,TRIM60,TRIM61 chr4 164537182 164537282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164566646 164566746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164602722 164611353 Gain and loss Pancreatic cancer SNP array 17952125 MARCH1 chr4 164612456 164614336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164622696 164630685 Gain and loss Pancreatic cancer SNP array 17952125 MARCH1 chr4 164635292 164661134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164635292 164661134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164657912 164658047 Loss Autism 1M Ailent CGH whole-genome array 21865298 MARCH1 chr4 164667738 164994733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164667738 164994733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 164668498 165524652 Copy number Lung cancer - 20668451 ANP32C,MARCH1,MIR5684 chr4 164668498 165524652 Gain or loss Breast cancer - 20668451 ANP32C,MARCH1,MIR5684 chr4 164668498 165524652 Gain or loss Cancer - 20668451 ANP32C,MARCH1,MIR5684 chr4 164668498 165524652 Gain or loss Lung cancer - 20668451 ANP32C,MARCH1,MIR5684 chr4 164668498 165524652 Gain or loss Ovarian cancer - 20668451 ANP32C,MARCH1,MIR5684 chr4 164668498 165524652 Gain or loss Pancreas cancer - 20668451 ANP32C,MARCH1,MIR5684 chr4 164668498 165524652 Gain or loss Prostate cancer - 20668451 ANP32C,MARCH1,MIR5684 chr4 164680912 164681012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164721391 164721703 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MARCH1 chr4 164735698 164735840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MARCH1 chr4 164740952 164741052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164750611 164752491 Gain and loss Pancreatic cancer SNP array 17952125 MARCH1 chr4 164773447 164799295 Gain and loss Pancreatic cancer SNP array 17952125 MARCH1 chr4 164774547 164774647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164794930 164795030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164807505 165132888 Gain and loss Pancreatic cancer SNP array 17952125 ANP32C,MARCH1 chr4 164833166 164834353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MARCH1 chr4 164846501 164882009 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MARCH1 chr4 164875701 164880600 Deletion Glioma mate-paired sequence 20126413 MARCH1 chr4 164877748 164878578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MARCH1 chr4 164902599 164902699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 164907029 164915416 Gain and loss Pancreatic cancer SNP array 17952125 MARCH1 chr4 164969488 164969715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 165031842 165031877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 165034140 165034240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 165034143 165034348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 165073128 165073854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MARCH1 chr4 165080703 165080803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 165098383 165098483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 165107643 165107870 Gain and loss Pancreatic cancer SNP array 17952125 MARCH1 chr4 165114049 165114143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MARCH1 chr4 16516563 30324345 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 ANAPC4,C4orf52,CCDC149,CCKAR,CLRN2,DCAF16,DHX15,FAM184B,GBA3,GPR125,KCNIP4,KCNIP4-IT1,LAP3,LCORL,LDB2,LGI2,LOC100505912,LOC285540,MED28,MIR218-1,MIR4275,MIR548AJ2,MIR548AX,MIR573,NCAPG,PACRGL,PI4K2B,PPARGC1A,QDPR,RBPJ,SEL1L3,SEPSECS,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TBC1D19,ZCCHC4 chr4 16518599 16518699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDB2 chr4 165211283 165212006 Gain and loss Pancreatic cancer SNP array 17952125 MARCH1 chr4 16521594 58249374 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 AASDH,ANAPC4,APBB2,ARAP2,ARL9,ATP10D,ATP8A1,BEND4,C4orf19,C4orf34,C4orf52,CCDC149,CCKAR,CEP135,CHIC2,CHRNA9,CLOCK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CWH43,DANCR,DCAF16,DCAF4L1,DCUN1D4,DHX15,DTHD1,ERVMER34-1,EXOC1,FAM114A1,FAM184B,FIP1L1,FLJ13197,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GBA3,GNPDA2,GPR125,GRXCR1,GSX2,GUF1,HOPX,IGFBP7,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LGI2,LIAS,LIMCH1,LNX1,LNX1-AS1,LNX1-AS2,LOC100505912,LOC152578,LOC255130,LOC285540,LOC344967,LOC401127,LOC644145,LRRC66,MED28,MIR218-1,MIR4275,MIR4449,MIR4801,MIR4802,MIR548AJ2,MIR548AX,MIR573,MIR574,N4BP2,NCAPG,NFXL1,NIPAL1,NMU,NOA1,NSUN7,OCIAD1,OCIAD2,PACRGL,PAICS,PCDH7,PDCL2,PDGFRA,PDS5A,PGM2,PHOX2B,PI4K2B,POLR2B,PPARGC1A,PPAT,PTTG2,QDPR,RASL11B,RBM47,RBPJ,RELL1,REST,RFC1,RHOH,RPL21P44,RPL9,SCFD2,SEL1L3,SEPSECS,SGCB,SHISA3,SLAIN2,SLC10A4,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SNORA26,SOD3,SPATA18,SPINK2,SRD5A3,SRD5A3-AS1,SRP72,STIM2,TBC1D1,TBC1D19,TEC,THEGL,TLR1,TLR10,TLR6,TMEM156,TMEM165,TMEM33,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP46,WDR19,YIPF7,ZAR1,ZCCHC4 chr4 1652380 1652487 Gain and loss Pancreatic cancer SNP array 17952125 FAM53A chr4 165293323 165338206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MARCH1 chr4 165328829 165328929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 165337609 165338313 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 165337609 165338313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 165337609 165338313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1654168 1671346 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 FAM53A chr4 165422433 165425706 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 165422490 165425665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 165475764 165476468 Gain and loss Pancreatic cancer SNP array 17952125 MIR5684 chr4 165487199 165487254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR5684 chr4 165487203 165487256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR5684 chr4 1654945 1655054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM53A chr4 165511975 165512075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR5684 chr4 16553336 16559841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LDB2 chr4 165534000 165562000 Duplication Non-syndromic sensorineural hearing loss References 19212409 MIR5684 chr4 165570847 165570947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR5684 chr4 165709002 165709102 Gain and loss Pancreatic cancer SNP array 17952125 LOC100505989 chr4 165719953 165720068 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC100505989 chr4 165761334 165761439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 165772779 165828801 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC100506013 chr4 165823439 166141760 Gain and loss Pancreatic cancer SNP array 17952125 FAM218A,KLHL2,TMEM192,TRIM60,TRIM61 chr4 165825153 165825253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 165887472 165932302 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TRIM61 chr4 165899489 165899594 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 165908521 165908599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 165927892 165927998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166042668 166042779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 166066047 166066147 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166066047 166066149 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166083889 166084641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166088976 166101731 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 166095050 166118268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166095050 166118268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166097625 166098098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 16612305 16629060 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LDB2,MIR548AX chr4 166154498 167771280 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 CPE,GK3P,KLHL2,MIR578,MSMO1,SPOCK3,TLL1 chr4 166159421 166333955 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 CPE,GK3P,KLHL2,MIR578,MSMO1 chr4 1661758 1681513 Gain and loss Pancreatic cancer SNP array 17952125 FAM53A chr4 166180669 166182346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHL2 chr4 166180669 166182346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL2 chr4 166182501 166190770 Loss Normal 244K array 17666407 KLHL2 chr4 166186564 166187002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLHL2 chr4 1661893 1845893 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 FAM53A,FGFR3,LETM1,SLBP,TACC3,TMEM129 chr4 166199711 166201156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GK3P,KLHL2 chr4 166199711 166201156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GK3P,KLHL2 chr4 166201826 166202014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLHL2 chr4 166207108 173226095 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 AADAT,ANXA10,C4orf27,CBR4,CLCN3,CPE,DDX60,DDX60L,GALNTL6,HSP90AA6P,KLHL2,LOC100506085,LOC100506122,MFAP3L,MIR578,MSMO1,NEK1,PALLD,SH3RF1,SPOCK3,TLL1 chr4 166216681 166253474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KLHL2,MSMO1 chr4 166216681 166253474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLHL2,MSMO1 chr4 166217103 166248750 Gain and loss Pancreatic cancer SNP array 17952125 KLHL2 chr4 166220301 166226400 Deletion Glioma mate-paired sequence 20126413 KLHL2 chr4 166222044 166222796 Gain and loss Pancreatic cancer SNP array 17952125 KLHL2 chr4 166222090 166224527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KLHL2 chr4 166222892 166224339 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KLHL2 chr4 166235705 166237878 Gain and loss Pancreatic cancer SNP array 17952125 KLHL2 chr4 166249841 166249930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MSMO1 chr4 166273781 166282066 Loss Normal 244K array 17666407 NOT_FOUND chr4 166287813 166287913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 166300000 191000000 Deletion abnormal development HR-CGH, Array-CGH 18461090 AADAT,ACSL1,ADAM29,AGA,ANKRD37,ANXA10,ASB5,C4orf27,C4orf47,CASP3,CBR4,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CPE,CYP4V2,DCTD,DDX60,DDX60L,DUX2,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FBXO8,FLJ38576,FRG1,FRG2,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,ING2,IRF2,KIAA1430,KLKB1,LINC00290,LOC100288255,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MFAP3L,MGC45800,MIR1305,MIR3945,MIR4276,MIR578,MLF1IP,MTNR1A,NBLA00301,NEIL3,NEK1,ODZ3,PALLD,PDLIM3,RWDD4,SAP30,SCRG1,SH3RF1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,SPOCK3,STOX2,TLL1,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 166309596 166309696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CPE chr4 166318824 166320501 Gain and loss Pancreatic cancer SNP array 17952125 CPE chr4 166337905 166339290 Gain and loss Pancreatic cancer SNP array 17952125 CPE chr4 166348238 166463748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CPE chr4 166348238 166463748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPE chr4 166356705 166391586 Gain and loss Pancreatic cancer SNP array 17952125 CPE chr4 16635895 18604517 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CLRN2,DCAF16,FAM184B,LAP3,LCORL,LDB2,MED28,NCAPG,QDPR chr4 166377398 166378505 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 CPE chr4 166393182 166393339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPE chr4 166418586 166420247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CPE chr4 1664325 1683828 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 FAM53A chr4 1664325 1683843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM53A chr4 1664325 1683843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM53A chr4 166433725 166433911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 16645184 16649199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LDB2 chr4 16645288 16648472 Gain Normal Birdsuite, version 1.5.2 22087296 LDB2 chr4 166468268 166483757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166468268 166483757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166486393 166601903 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166519540 166638926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166519540 166638926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166526844 166526939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 166527000 166557000 Duplication Non-syndromic sensorineural hearing loss References 19212409 NOT_FOUND chr4 166531337 166531408 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166531337 166531482 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166550673 166550763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 166551819 166551919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 166556741 166558402 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166562751 166571520 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 166571898 166572066 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166571985 166572066 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166606463 166621472 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 166648936 166649026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 166657979 166777063 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 16666211 16700869 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LDB2 chr4 166687462 166687763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 166730368 166730468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 166751678 166751753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 166784522 166899627 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 TLL1 chr4 166802240 166802340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLL1 chr4 166825397 166825497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLL1 chr4 166826816 166829790 Gain and loss Pancreatic cancer SNP array 17952125 TLL1 chr4 166882558 169008236 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SPOCK3,TLL1 chr4 166897215 166897315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TLL1 chr4 166899638 167200746 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 TLL1 chr4 166971683 170165953 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ANXA10,CBR4,DDX60,DDX60L,PALLD,SH3RF1,SPOCK3,TLL1 chr4 167013860 167244443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TLL1 chr4 167013860 167244443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TLL1 chr4 167035310 167035370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 167072314 167072414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 167114729 167115039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 167133882 167167192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 167152015 167382598 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 167193784 167193897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 167198604 167198704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 167221901 167226100 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 167223767 167224362 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 167223768 167224312 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 16726387 16758958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LDB2 chr4 167283175 167283313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 167283773 167284113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 167296384 167832006 LOH Normal High-resolution SNP genotyping 21211785 SPOCK3 chr4 167303820 167728813 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 SPOCK3 chr4 167327538 167327879 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 167331939 167332052 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 167361885 167899715 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 SPOCK3 chr4 167379719 167379784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 167416338 167423069 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 167421330 167421468 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 167421928 167422268 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 167446375 168643447 Microdeletion Epilepsy HumanHap 550K, and HumanHap 317K 21635232 SPOCK3 chr4 167452203 167551977 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 167453537 167453636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 167492814 167537971 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 16751089 30821089 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 ANAPC4,C4orf52,CCDC149,CCKAR,CLRN2,DCAF16,DHX15,FAM184B,GBA3,GPR125,KCNIP4,KCNIP4-IT1,LAP3,LCORL,LDB2,LGI2,LOC100505912,LOC285540,MED28,MIR218-1,MIR4275,MIR548AJ2,MIR573,NCAPG,PACRGL,PCDH7,PI4K2B,PPARGC1A,QDPR,RBPJ,SEL1L3,SEPSECS,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TBC1D19,ZCCHC4 chr4 167548717 167548807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 167578749 167578849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 167591694 167591791 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 167592479 167592579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 167594016 167594170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 167617475 167617575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 167620542 167621542 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 167620640 167621640 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 167629140 167630140 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 167631480 167631589 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 167723412 167750688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPOCK3 chr4 167730459 167730559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPOCK3 chr4 16775171 16819884 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LDB2 chr4 16776086 16776186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDB2 chr4 167809823 167809923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPOCK3 chr4 167867683 167867778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SPOCK3 chr4 167891110 168392316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPOCK3 chr4 167891110 168392316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPOCK3 chr4 167911701 167921600 Deletion Glioma mate-paired sequence 20126413 SPOCK3 chr4 167913612 167919646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPOCK3 chr4 167938893 168511938 LOH Normal High-resolution SNP genotyping 21211785 SPOCK3 chr4 167945985 168033177 Gain Stenocardia MACArray Karyo 24K BAC-chips 21860640 SPOCK3 chr4 167945985 168033177 Gain Vasospasm MACArray Karyo 24K BAC-chips 21860640 SPOCK3 chr4 168029268 168530430 Gain and loss Pancreatic cancer SNP array 17952125 SPOCK3 chr4 168031604 168070808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPOCK3 chr4 168035415 168067574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPOCK3 chr4 168036432 168081885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPOCK3 chr4 168038810 168086065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPOCK3 chr4 168041584 168080084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPOCK3 chr4 168051104 168071007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SPOCK3 chr4 168076090 168076204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPOCK3 chr4 16811855 16812164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LDB2 chr4 168129127 168130315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SPOCK3 chr4 168214264 168214365 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 168266226 168565721 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 1683001 1717500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM53A,SLBP chr4 16839937 16840037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LDB2 chr4 168486444 168486544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1684911 1690315 Gain and loss Pancreatic cancer SNP array 17952125 FAM53A chr4 168511223 168511323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 168558221 168558483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 168558615 168922618 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 168558615 169002056 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 168577220 168577280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 168593388 168624178 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 168608516 168609711 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 168649237 168649313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 168654884 168660580 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 168678415 168678513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 168685000 168963047 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 168696376 168696638 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 168738837 168738937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1687477 1692882 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 NOT_FOUND chr4 1687478 1692882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1687478 1692882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 168786587 168786687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 168791711 168817031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 168820712 168820847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 168820712 168821016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 168855782 168855882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 168881866 168882274 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 168953892 168953992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 168958867 168959002 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 169019920 169020010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANXA10 chr4 169043054 169043165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANXA10 chr4 169044703 169237869 Deletion Normal Affymetrix 6.0 microarrays 20967226 ANXA10,DDX60 chr4 169045103 169229624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANXA10,DDX60 chr4 169045203 169230108 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 ANXA10,DDX60 chr4 1690495 1714126 Gain and loss Pancreatic cancer SNP array 17952125 SLBP chr4 169062795 169062854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANXA10 chr4 169068517 169068613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ANXA10 chr4 169109321 169306430 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX60,DDX60L chr4 169109321 169426423 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX60,DDX60L,PALLD chr4 169109520 169306430 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX60,DDX60L chr4 169109520 169426423 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX60,DDX60L,PALLD chr4 169164689 169426423 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DDX60,DDX60L,PALLD chr4 169181873 169243857 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DDX60 chr4 16918735 16927153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 169250282 169345468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX60L chr4 169250282 169345468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX60L chr4 169266679 169268037 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 169287670 169287702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DDX60L chr4 1693054 1716693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLBP chr4 1693054 1716693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLBP chr4 1693062 1716696 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 SLBP chr4 16931467 16931603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 169322168 170533173 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CBR4,DDX60L,NEK1,PALLD,SH3RF1 chr4 169353056 169355005 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 DDX60L chr4 169353389 169354992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DDX60L chr4 169357414 169357499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DDX60L chr4 169374021 169476478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DDX60L,PALLD chr4 169374021 169476478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DDX60L,PALLD chr4 169379795 169989489 Allelic imbalance Normal High-resolution SNP genotyping 21211785 CBR4,DDX60L,PALLD chr4 169379795 169989489 Copy number gain Normal High-resolution SNP genotyping 21211785 CBR4,DDX60L,PALLD chr4 169381508 169382508 Gain Chronic lymphocytic leukemia References 21215367 DDX60L chr4 169386926 169387926 Gain Chronic lymphocytic leukemia References 21215367 DDX60L chr4 169386977 169387977 Gain Chronic lymphocytic leukemia References 21215367 DDX60L chr4 169388444 169545719 Gain and loss Pancreatic cancer SNP array 17952125 DDX60L,PALLD chr4 169468418 169468518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PALLD chr4 169502060 169502186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PALLD chr4 169512177 169614633 Gain and loss Pancreatic cancer SNP array 17952125 PALLD chr4 169514461 169638213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PALLD chr4 169524217 169559616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PALLD chr4 169537080 169537112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PALLD chr4 169585862 169585939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PALLD chr4 169606573 169606673 Gain and loss Pancreatic cancer SNP array 17952125 PALLD chr4 169615303 169616303 Gain Chronic lymphocytic leukemia References 21215367 PALLD chr4 169629135 169629265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PALLD chr4 169654792 170086183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CBR4,PALLD,SH3RF1 chr4 169654792 170086183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBR4,PALLD,SH3RF1 chr4 169696703 169737258 Gain and loss Pancreatic cancer SNP array 17952125 PALLD chr4 169747263 169747324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PALLD chr4 169767290 169767420 Gain and loss Pancreatic cancer SNP array 17952125 PALLD chr4 169770605 169771605 Loss Chronic lymphocytic leukemia References 21215367 PALLD chr4 169773492 169773592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PALLD chr4 169773571 169773646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PALLD chr4 169778454 169778554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PALLD chr4 169792947 170224296 Gain and loss Pancreatic cancer SNP array 17952125 CBR4,PALLD,SH3RF1 chr4 169796629 169796718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PALLD chr4 169844334 169844442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PALLD chr4 169894121 169894710 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 169901306 169901406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 169913542 169914112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CBR4 chr4 1699241 1763076 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 SLBP,TACC3,TMEM129 chr4 169958895 169958995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 169982489 169982597 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 16998638 16998774 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 170010519 170010578 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 NOT_FOUND chr4 170043081 170043187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF1 chr4 170051697 170052267 Gain and loss Pancreatic cancer SNP array 17952125 SH3RF1 chr4 170100000 176300000 Gain or loss Esophageal squamous carcinoma Array CGH 17470683 AADAT,ADAM29,C4orf27,CEP44,CLCN3,FBXO8,GALNT7,GALNTL6,GLRA3,HAND2,HMGB2,HPGD,HSP90AA6P,LOC100506085,LOC100506122,MFAP3L,MIR4276,NBLA00301,NEK1,SAP30,SCRG1,SH3RF1 chr4 170100000 183200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 AADAT,ADAM29,AGA,ASB5,C4orf27,CEP44,CLCN3,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,HSP90AA6P,LINC00290,LOC100506085,LOC100506122,LOC285501,MFAP3L,MGC45800,MIR1305,MIR4276,NBLA00301,NEIL3,NEK1,SAP30,SCRG1,SH3RF1,SPATA4,SPCS3,VEGFC,WDR17 chr4 170100000 191154276 Amplification Neuroblastoma References 16790693 AADAT,ACSL1,ADAM29,AGA,ANKRD37,ASB5,C4orf27,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CEP44,CLCN3,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FBXO8,FLJ38576,FRG1,FRG2,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,HSP90AA6P,ING2,IRF2,KIAA1430,KLKB1,LINC00290,LOC100288255,LOC100506085,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MFAP3L,MGC45800,MIR1305,MIR3945,MIR4276,MLF1IP,MTNR1A,NBLA00301,NEIL3,NEK1,ODZ3,PDLIM3,RWDD4,SAP30,SCRG1,SH3RF1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 170105276 170105355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF1 chr4 170145319 170167997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH3RF1 chr4 170145319 170167997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF1 chr4 170162975 170163070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3RF1 chr4 170177501 170177595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3RF1 chr4 170181236 170181342 Gain and loss Pancreatic cancer SNP array 17952125 SH3RF1 chr4 170181240 170181342 Gain and loss Pancreatic cancer SNP array 17952125 SH3RF1 chr4 170251981 170428824 Copy number Lung cancer - 20668451 NEK1 chr4 170251981 170428824 Gain or loss Breast cancer - 20668451 NEK1 chr4 170251981 170428824 Gain or loss Cancer - 20668451 NEK1 chr4 170251981 170428824 Gain or loss Lung cancer - 20668451 NEK1 chr4 170251981 170428824 Gain or loss Ovarian cancer - 20668451 NEK1 chr4 170251981 170428824 Gain or loss Pancreas cancer - 20668451 NEK1 chr4 170251981 170428824 Gain or loss Prostate cancer - 20668451 NEK1 chr4 170251982 170428824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NEK1 chr4 170251982 170428824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK1 chr4 170277158 170301926 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 170277722 170277822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 170280120 170301926 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 170281907 170301926 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 170281907 170308698 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 170283474 170306139 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 170301130 170301222 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 170301130 170301223 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 170314420 170533778 Loss Breast cancer HumArray2.0 or HumArray3.1 17588203 NEK1 chr4 170315761 170347683 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEK1 chr4 170324000 170324792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NEK1 chr4 170339025 170339125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK1 chr4 170358523 170391154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NEK1 chr4 17038417 17038983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 170386453 170386542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK1 chr4 170387651 170387785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEK1 chr4 170390137 170566839 Gain and loss Pancreatic cancer SNP array 17952125 CLCN3,NEK1 chr4 170400000 172200000 Deletion Developmental delay 1M resolution array comparative genomic hybridization and subsequent fluorescent in-situ hybridization analysis 22127048 AADAT,C4orf27,CLCN3,HSP90AA6P,LOC100506085,LOC100506122,MFAP3L,NEK1 chr4 170436309 170436409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEK1 chr4 170462158 170462947 Gain and loss Pancreatic cancer SNP array 17952125 NEK1 chr4 1 70500000 Gain Gastrointestinal stromal cancer array CGH 16982739 AASDH,ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,APBB2,ARAP2,ARL9,ATP10D,ATP5I,ATP8A1,BEND4,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CENPC1,CEP135,CHIC2,CHRNA9,CLNK,CLOCK,CLRN2,CNGA1,COMMD8,CORIN,COX7B2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CWH43,CYTL1,DANCR,DCAF16,DCAF4L1,DCUN1D4,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EPHA5,ERVMER34-1,EVC,EVC2,EXOC1,FAM114A1,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FIP1L1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,FRYL,FTLP10,GABRA2,GABRA4,GABRB1,GABRG1,GAK,GBA3,GNPDA2,GNRHR,GPR125,GPR78,GRK4,GRPEL1,GRXCR1,GSX2,GUF1,HAUS3,HGFAC,HMX1,HOPX,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,IGFBP7,JAKMIP1,KCNIP4,KCNIP4-IT1,KCTD8,KDR,KIAA0232,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LETM1,LGI2,LIAS,LIMCH1,LNX1,LNX1-AS1,LNX1-AS2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100144602,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152578,LOC152742,LOC255130,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC401134,LOC402160,LOC441009,LOC550112,LOC550113,LOC644145,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LPHN3,LRPAP1,LRRC66,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4449,MIR4798,MIR4800,MIR4801,MIR4802,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,N4BP2,NAT8L,NCAPG,NFXL1,NIPAL1,NKX3-2,NMU,NOA1,NOP14,NOP14-AS1,NSG1,NSUN7,OCIAD1,OCIAD2,OTOP1,PACRGL,PAICS,PCDH7,PCGF3,PDCL2,PDE6B,PDGFRA,PDS5A,PGM2,PHOX2B,PI4K2B,PIGG,POLN,POLR2B,PPARGC1A,PPAT,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RASL11B,RBM47,RBPJ,RELL1,REST,RFC1,RGS12,RHOH,RNF212,RNF4,RPL21P44,RPL9,S100P,SCARNA22,SCFD2,SEL1L3,SEPSECS,SGCB,SH3BP2,SH3TC1,SHISA3,SLAIN2,SLBP,SLC10A4,SLC26A1,SLC2A9,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SNORA26,SOD3,SORCS2,SPATA18,SPINK2,SPON2,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STIM2,STK32B,STX18,SYT14L,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TEC,TECRL,THEGL,TLR1,TLR10,TLR6,TMED11P,TMEM128,TMEM129,TMEM156,TMEM165,TMEM175,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP2,TRMT44,TXK,UBA6,UBE2K,UCHL1,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,USP17,USP17L5,USP17L6P,USP46,UVSSA,WDR1,WDR19,WFS1,WHSC1,WHSC2,YIPF7,YTHDC1,ZAR1,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 170513101 170517400 Deletion Glioma mate-paired sequence 20126413 NEK1 chr4 170515036 170515456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NEK1 chr4 170557813 170770307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf27,CLCN3 chr4 170624360 170625360 Loss Chronic lymphocytic leukemia References 21215367 CLCN3 chr4 170624368 170625368 Loss Chronic lymphocytic leukemia References 21215367 CLCN3 chr4 170642728 170643728 Loss Chronic lymphocytic leukemia References 21215367 CLCN3 chr4 170642768 170643768 Gain Chronic lymphocytic leukemia References 21215367 CLCN3 chr4 170643878 170644878 Gain Chronic lymphocytic leukemia References 21215367 CLCN3 chr4 170645224 170646224 Loss Cancer Human 24 color M-FISH 21215367 NOT_FOUND chr4 170645224 170646224 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 170689159 170908463 Gain and loss Pancreatic cancer SNP array 17952125 LOC100506085,MFAP3L chr4 170690413 170690513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17069985 17070684 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 170747776 170747813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17077663 17077891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 170778297 170878731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506085 chr4 170778297 170878731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506085 chr4 17078943 17079043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 170834585 170834800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 170834595 170834727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 170841800 171547755 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 AADAT,HSP90AA6P,LOC100506085,MFAP3L chr4 170887205 170915637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506085,MFAP3L chr4 170916452 171016865 Gain and loss Pancreatic cancer SNP array 17952125 AADAT,MFAP3L chr4 170948946 170949428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17096141 17096241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17097121 17122811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1709721 17122811 Copy number Autism exome sequencing 22495311 ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf6,CC2D2A,CCDC96,CD38,CLNK,CPEB2,CPZ,CRMP1,CYTL1,DEFB131,DOK7,DRD5,EVC,EVC2,FAM193A,FAM200B,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FLJ35424,FLJ36777,FLJ39653,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,JAKMIP1,KIAA0232,LDB2,LETM1,LOC100129931,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC152742,LOC285484,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAN2B2,MFSD10,MIR3138,MIR378D1,MIR4274,MIR4798,MIR4800,MIR5091,MIR548AX,MIR548I2,MIR572,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,NAT8L,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,POLN,PPP2R2C,PROM1,PSAPL1,RAB28,RGS12,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC2A9,SORCS2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TMEM128,TMEM129,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF518B chr4 171004783 171014642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 AADAT chr4 171025352 171053792 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171045013 171045292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 17105588 17106154 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171069574 171071166 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 171087101 171087583 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171094000 171197000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 NOT_FOUND chr4 171128588 171129244 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171144325 171184936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 171144325 171184936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 171166177 171166277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 171171871 171171966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17118021 17153632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 171217948 171247947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 171217948 171247947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17125886 17137825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17125886 17137825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1712643 1713139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLBP chr4 171265830 171265930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 171282483 171322159 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171300101 173901962 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GALNTL6,HSP90AA6P,LOC100506122 chr4 171307158 171310077 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 171307382 171309827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 171308659 171309833 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 171344602 171389294 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 171356103 171386102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 17139658 17139761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 171436714 171475921 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 17144834 17145062 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171504250 171510463 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HSP90AA6P chr4 171504657 171509733 Gain or loss Normal Birdsuite, version 1.5.2 22087296 HSP90AA6P chr4 17150815 17150915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17150908 17151096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 171516251 171516341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HSP90AA6P chr4 171528714 171528779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 171529837 171563402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 17153430 17155479 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 171544751 172287617 LOH Normal High-resolution SNP genotyping 21211785 LOC100506122 chr4 17155479 17156328 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 17156328 17156457 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 17156457 17177254 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 171592223 171592566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 171596038 171596138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 171599083 171599235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 17163032 17163403 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 17163324 17869482 LOH Normal High-resolution SNP genotyping 21211785 CLRN2,DCAF16,FAM184B,LAP3,LCORL,MED28,NCAPG,QDPR chr4 171633340 171660247 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 17164292 17189982 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171697476 171697553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 171739196 171762710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 171739196 171762710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1717501 1729000 Copy number Normal ReadDepth: A Parallel R Package 21305028 TACC3,TMEM129 chr4 171777689 171778076 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171786227 171786558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 171816345 171816377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 171863223 172185666 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC100506122 chr4 17188025 17218688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17188025 17218688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17188290 17188325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 171900000 176300000 Deletion Lung cancer Relied on a multipoint score function 16773561 ADAM29,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,HAND2,HMGB2,HPGD,LOC100506122,MIR4276,NBLA00301,SAP30,SCRG1 chr4 171900000 183200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ADAM29,AGA,ASB5,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,LINC00290,LOC100506122,LOC285501,MGC45800,MIR1305,MIR4276,NBLA00301,NEIL3,SAP30,SCRG1,SPATA4,SPCS3,VEGFC,WDR17 chr4 171900000 191154276 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 ACSL1,ADAM29,AGA,ANKRD37,ASB5,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CEP44,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FBXO8,FLJ38576,FRG1,FRG2,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LINC00290,LOC100288255,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MIR4276,MLF1IP,MTNR1A,NBLA00301,NEIL3,ODZ3,PDLIM3,RWDD4,SAP30,SCRG1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 171900000 191154276 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 ACSL1,ADAM29,AGA,ANKRD37,ASB5,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CEP44,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FBXO8,FLJ38576,FRG1,FRG2,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LINC00290,LOC100288255,LOC100506122,LOC100506229,LOC285441,LOC285501,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MIR4276,MLF1IP,MTNR1A,NBLA00301,NEIL3,ODZ3,PDLIM3,RWDD4,SAP30,SCRG1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 171900605 171901215 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171927456 171927535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17193159 17204974 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 171955406 171955471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 172000000 191273063 Deletion abnormal development HR-CGH, Array-CGH 18461090 ACSL1,ADAM29,AGA,ANKRD37,ASB5,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CEP44,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FBXO8,FLJ38576,FRG1,FRG2,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LINC00290,LOC100288255,LOC100506229,LOC285441,LOC285501,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MIR4276,MLF1IP,MTNR1A,NBLA00301,NEIL3,ODZ3,PDLIM3,RWDD4,SAP30,SCRG1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 172019731 172019831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17206829 17206932 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 172125431 172125750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 172200000 176600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM29,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,MIR4276,NBLA00301,SAP30,SCRG1 chr4 172200000 176600000 Deletion Developmental delay - 22127048 ADAM29,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,MIR4276,NBLA00301,SAP30,SCRG1 chr4 172200000 176600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADAM29,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,MIR4276,NBLA00301,SAP30,SCRG1 chr4 172200000 176600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 ADAM29,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,MIR4276,NBLA00301,SAP30,SCRG1 chr4 172200000 176600000 Gain Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 125 samples 21899760 ADAM29,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,MIR4276,NBLA00301,SAP30,SCRG1 chr4 172200000 176600000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 ADAM29,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,MIR4276,NBLA00301,SAP30,SCRG1 chr4 172200000 176600000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 ADAM29,CEP44,FBXO8,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HMGB2,HPGD,MIR4276,NBLA00301,SAP30,SCRG1 chr4 172200000 191273063 Deletion Normal - 21833498 ACSL1,ADAM29,AGA,ANKRD37,ASB5,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CEP44,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FBXO8,FLJ38576,FRG1,FRG2,GALNT7,GALNTL6,GLRA3,GPM6A,HAND2,HELT,HMGB2,HPGD,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LINC00290,LOC100288255,LOC100506229,LOC285441,LOC285501,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MIR4276,MLF1IP,MTNR1A,NBLA00301,NEIL3,ODZ3,PDLIM3,RWDD4,SAP30,SCRG1,SLC25A4,SLED1,SNX25,SORBS2,SPATA4,SPCS3,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,VEGFC,WDR17,WWC2,WWC2-AS2,ZFP42 chr4 172206259 172206321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 172240000 174170000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 GALNT7,GALNTL6 chr4 17225371 17235258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17225371 17235258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 172301720 172301820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 172319664 172388395 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 17240741 17240773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17242809 17392046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 172444145 173706467 Loss Urothelial carcinoma array CGH validated by FISH 21177765 GALNTL6 chr4 17255196 17285859 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 17255420 17255520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 172594925 173263440 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GALNTL6 chr4 172604186 172614508 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 172604350 172614496 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 172604350 172614508 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 172605910 172616933 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr4 172609201 172617900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 172609579 172618594 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 172610055 172617054 Deletion Normal TaqMan assays 20972442 NOT_FOUND chr4 172610978 172616208 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 172610987 172616000 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 172611447 172614496 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 172611459 172614508 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 172611459 172614508 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 172611459 172614508 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 172611512 172614496 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 172611524 172614508 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 172612123 172616260 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 NOT_FOUND chr4 172612123 172616260 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 172641989 172669987 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 17271125 17271213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 172734574 173961558 Deletion Prostate cancer aCGH 22341455 GALNTL6 chr4 172735394 172764641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 172749160 172749235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 172755862 172800516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 172793720 172793813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 172809381 172809453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 1729001 1782500 Copy number Normal ReadDepth: A Parallel R Package 21305028 TACC3 chr4 172917934 172918034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 17292542 17302429 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 17294862 17294924 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 172956208 172956303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 172971229 174199266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT7,GALNTL6 chr4 172971229 174199266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT7,GALNTL6 chr4 172988474 174169527 LOH Normal High-resolution SNP genotyping 21211785 GALNT7,GALNTL6 chr4 173025657 173025757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173080934 173084408 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GALNTL6 chr4 173085111 173085206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 17309980 17459217 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 17314401 17370900 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 173162786 173162886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173166312 173166412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173176417 173176567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 17320168 17320200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17321939 17322039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 173223101 173231500 Deletion Glioma mate-paired sequence 20126413 GALNTL6 chr4 173223201 173230005 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GALNTL6 chr4 173223201 173230005 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 GALNTL6 chr4 173224492 173232541 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 GALNTL6 chr4 173225215 173229505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNTL6 chr4 173225255 173229491 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GALNTL6 chr4 173225711 173226068 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GALNTL6 chr4 173225723 173237396 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GALNTL6 chr4 173225936 173226068 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GALNTL6 chr4 173234842 173234942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173273378 173273457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 17332393 17332468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 173339962 173384955 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173341929 173385132 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173357624 173388177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173365184 173374546 Gain Normal 244K array 17666407 GALNTL6 chr4 173413009 173413062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNTL6 chr4 173418986 173419086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173520959 173520994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173537754 173538213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNTL6 chr4 173545804 173545904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173557516 173557616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173560179 173560279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173562035 173662959 Gain and loss Pancreatic cancer SNP array 17952125 GALNTL6 chr4 1735812 1841231 Gain and loss Pancreatic cancer SNP array 17952125 FGFR3,LETM1,TACC3 chr4 173650460 173665206 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GALNTL6 chr4 173650472 173665218 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GALNTL6 chr4 173659086 173677694 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 GALNTL6 chr4 173659501 173672100 Deletion Glioma mate-paired sequence 20126413 GALNTL6 chr4 173661055 173671054 Deletion Normal TaqMan assays 20972442 GALNTL6 chr4 173661501 173670000 Copy number Normal ReadDepth: A Parallel R Package 21305028 GALNTL6 chr4 173661522 173665218 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 GALNTL6 chr4 173661522 173665218 Gain or loss Normal Birdsuite, version 1.5.2 22087296 GALNTL6 chr4 173661555 173669545 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 GALNTL6 chr4 173661555 173669545 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 GALNTL6 chr4 173661608 173670096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GALNTL6 chr4 173698177 173730581 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173704839 173704939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 17374930 17374999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 173781023 173809785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173787559 173787659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173788741 173788829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173793049 173813536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173796747 173814113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173797263 173832318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173797656 173812652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173797676 173818126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNTL6 chr4 173824071 173826772 Loss Normal 244K array 17666407 GALNTL6 chr4 173826065 174849416 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GALNT7,GALNTL6,HAND2,HMGB2,NBLA00301,SAP30,SCRG1 chr4 173826989 173827089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173949472 173949546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNTL6 chr4 173959368 173960368 Loss Chronic lymphocytic leukemia References 21215367 GALNTL6 chr4 173962249 173962349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 173997876 173998876 Loss Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 173998000 173999000 Gain Chronic lymphocytic leukemia References 21215367 NOT_FOUND chr4 174044000 174044230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 174066582 174066677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 174089903 174245117 Deletion Prostate cancer aCGH 22341455 GALNT7 chr4 174091952 174549004 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 GALNT7,HAND2,HMGB2,NBLA00301,SAP30,SCRG1 chr4 174105244 174335969 Gain and loss Pancreatic cancer SNP array 17952125 GALNT7,HMGB2,SAP30,SCRG1 chr4 17411376 17421479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17411376 17421479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174140000 174940000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 GALNT7,HAND2,HMGB2,NBLA00301,SAP30,SCRG1 chr4 174144921 174153488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GALNT7 chr4 174144921 174153488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GALNT7 chr4 174150888 174150988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT7 chr4 174157673 174157773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GALNT7 chr4 174174096 176834175 LOH Normal High-resolution SNP genotyping 21211785 ADAM29,CEP44,FBXO8,GALNT7,GLRA3,GPM6A,HAND2,HMGB2,HPGD,MIR4276,NBLA00301,SAP30,SCRG1 chr4 174180237 174186548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GALNT7 chr4 17421622 17455585 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr4 17421623 17455583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17421623 17455583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17422505 17423019 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 174252526 174255594 Deletion Prostate cancer aCGH 22341455 HMGB2 chr4 174292092 174298682 Deletion Prostate cancer aCGH 22341455 SAP30 chr4 174299369 174299662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174299376 174299651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174309298 174320616 Deletion Prostate cancer aCGH 22341455 SCRG1 chr4 174326479 174481692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAND2,NBLA00301 chr4 174331363 174331446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 174335733 174335804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174350771 175837206 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CEP44,FBXO8,GLRA3,HAND2,HPGD,MIR4276,NBLA00301 chr4 174363001 174364000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 174386026 174393278 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 174425880 174425961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174437531 174437806 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174447651 174451377 Deletion Prostate cancer aCGH 22341455 HAND2 chr4 174464660 174619847 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174489363 174492167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174489363 174492167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174528668 174535257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174528668 174535257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17453942 17632477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CLRN2,LAP3,MED28,QDPR chr4 17453942 17632477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CLRN2,LAP3,MED28,QDPR chr4 174545875 174557192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174545875 174557192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17456178 17456488 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 174591756 174619306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 174600962 174643317 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 NOT_FOUND chr4 174602907 174627357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 174604330 174604430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174625789 174626004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174627518 174630322 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174636275 174636375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 174658001 174689500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 174666824 174673412 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174684030 174695347 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174684226 174687953 Deletion Intellectual disability 100k SNP Array 21811512 NOT_FOUND chr4 174684227 174687953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174684227 174687953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174715112 174715212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 174735498 174735555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 174742485 174742585 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174746286 174746380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 174763710 174765922 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174766782 174766877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 174773662 174774632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174773662 174774632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174786703 174786853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17479041 17488650 Gain and loss Pancreatic cancer SNP array 17952125 QDPR chr4 174791778 174792097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 174820850 174825324 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174833196 174835350 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 17483984 17485855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 17488794 17522754 Gain and loss Pancreatic cancer SNP array 17952125 CLRN2,QDPR chr4 174911817 174912524 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174929759 174930225 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 174938510 174938610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 175028726 175028825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 175030555 175030655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 175113952 175157252 Copy number Schizophrenia - 18511947 NOT_FOUND chr4 175157808 175205401 Deletion Prostate cancer aCGH 22341455 CEP44,FBXO8 chr4 175182364 175694864 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CEP44,FBXO8,GLRA3,HPGD,MIR4276 chr4 175182364 176560822 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM29,CEP44,FBXO8,GLRA3,GPM6A,HPGD,MIR4276 chr4 175204827 175254530 Deletion Prostate cancer aCGH 22341455 CEP44,FBXO8 chr4 17521113 17699648 Gain and loss Pancreatic cancer SNP array 17952125 CLRN2,FAM184B,LAP3,MED28 chr4 175272014 175272164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1753248 1753292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 175394384 175441977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPGD chr4 175394384 175441977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPGD chr4 175411327 175444043 Deletion Prostate cancer aCGH 22341455 HPGD chr4 175422963 175423055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 HPGD chr4 175435581 175435676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 HPGD chr4 175441631 175490017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HPGD chr4 175441631 175490017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HPGD chr4 175532539 175580132 Gain and loss Pancreatic cancer SNP array 17952125 GLRA3 chr4 175563197 175750464 Deletion Prostate cancer aCGH 22341455 GLRA3 chr4 1755652 1755725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 175567568 175567668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLRA3 chr4 175571480 175571575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLRA3 chr4 175594951 175616211 Gain and loss Pancreatic cancer SNP array 17952125 GLRA3 chr4 175647954 175680186 Amplification Intellectual disability 100k SNP Array 21811512 GLRA3 chr4 175647958 175680213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GLRA3 chr4 175647958 175680213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GLRA3 chr4 175676661 175676761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLRA3 chr4 175738642 175738723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GLRA3 chr4 175786111 175818368 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 175799773 175987040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADAM29 chr4 175799773 175987040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADAM29 chr4 175810278 176171336 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADAM29 chr4 175839508 175899330 Deletion Prostate cancer aCGH 22341455 ADAM29 chr4 175859901 175865400 Deletion Glioma mate-paired sequence 20126413 ADAM29 chr4 175861742 175863545 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADAM29 chr4 175861773 175863538 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 ADAM29 chr4 175881922 175881966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ADAM29 chr4 17589920 17590592 Gain and loss Pancreatic cancer SNP array 17952125 LAP3 chr4 1759158 2260881 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,FGFR3,HAUS3,LETM1,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,WHSC1,WHSC2 chr4 175938167 175938199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 175938660 176125195 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 176076132 176135905 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 176076132 176135905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 176076133 176135906 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 176076133 176135906 Gain or loss Cancer - 20668451 NOT_FOUND chr4 176076133 176135906 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 176076133 176135906 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 176076133 176135906 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 176076133 176135906 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 176145061 176145161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 176193980 176194073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 176214289 176273986 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 176239801 176619300 Copy number Normal ReadDepth: A Parallel R Package 21305028 GPM6A chr4 176281615 176281723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1762854 1777829 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 176288452 176288568 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 176357031 176357562 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 176357119 176357507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 176367747 176389062 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 176368584 176389062 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 176401872 176402064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 176402152 176402252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17644022 17644122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM184B chr4 1764827 1767105 Amplification or deletion Cancer Array CGH 17440070 NOT_FOUND chr4 1764832 1780396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1764832 1780396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 1764836 1780396 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 1764836 1780396 Gain or loss Cancer - 20668451 NOT_FOUND chr4 1764836 1780396 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 1764836 1780396 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 1764836 1780396 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 1764836 1780396 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 176491224 176492086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 176491256 176492118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 176499858 176501843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1765421 1780396 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 NOT_FOUND chr4 176554087 176923647 Deletion Prostate cancer aCGH 22341455 GPM6A chr4 176571673 176811335 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 GPM6A chr4 176575059 176610033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPM6A chr4 176600000 177800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ASB5,GPM6A,SPATA4,SPCS3,VEGFC,WDR17 chr4 176625467 176625564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPM6A chr4 176631147 176631253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPM6A chr4 176639057 176642862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GPM6A chr4 176641828 183811059 Loss Urothelial carcinoma array CGH validated by FISH 21177765 AGA,ASB5,GPM6A,LINC00290,LOC285501,MGC45800,MIR1305,NEIL3,ODZ3,SPATA4,SPCS3,VEGFC,WDR17 chr4 17670296 40214695 Loss Prostate cancer Array CGH 18632612 ANAPC4,ARAP2,C4orf19,C4orf34,C4orf52,CCDC149,CCKAR,DCAF16,DHX15,DTHD1,FAM114A1,FAM184B,FLJ13197,GBA3,GPR125,KCNIP4,KCNIP4-IT1,KIAA1239,KLB,KLF3,KLHL5,LCORL,LGI2,LIAS,LOC100505912,LOC285540,LOC344967,LOC401127,MIR218-1,MIR4275,MIR4801,MIR548AJ2,MIR573,MIR574,N4BP2,NCAPG,PACRGL,PCDH7,PDS5A,PGM2,PI4K2B,PPARGC1A,PTTG2,RBPJ,RELL1,RFC1,RHOH,RPL9,SEL1L3,SEPSECS,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TBC1D1,TBC1D19,TLR1,TLR10,TLR6,TMEM156,UBE2K,UGDH,UGDH-AS1,WDR19,ZCCHC4 chr4 176708107 176708207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPM6A chr4 1767594 2276660 LOH Normal High-resolution SNP genotyping 21211785 C4orf48,FGFR3,HAUS3,LETM1,MIR4800,MIR943,MXD4,NAT8L,POLN,SCARNA22,WHSC1,WHSC2,ZFYVE28 chr4 176785756 177728549 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ASB5,GPM6A,SPATA4,SPCS3,VEGFC,WDR17 chr4 176791083 177160642 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 ASB5,GPM6A,SPATA4,WDR17 chr4 176791083 177160642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ASB5,GPM6A,SPATA4,WDR17 chr4 176791083 177160642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ASB5,GPM6A,SPATA4,WDR17 chr4 176804040 176804115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPM6A chr4 176899970 179870503 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGA,ASB5,GPM6A,LOC285501,NEIL3,SPATA4,SPCS3,VEGFC,WDR17 chr4 176905920 176906020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPM6A chr4 176907291 176907403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPM6A chr4 176929238 177298797 Gain and loss Pancreatic cancer SNP array 17952125 ASB5,SPATA4,SPCS3,WDR17 chr4 176986984 177103978 Deletion Prostate cancer aCGH 22341455 WDR17 chr4 177006695 177006785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR17 chr4 177020926 177187213 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 ASB5,SPATA4,WDR17 chr4 177064954 177065054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR17 chr4 177067665 177067765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WDR17 chr4 177105724 177116821 Deletion Prostate cancer aCGH 22341455 SPATA4 chr4 177134823 177190372 Deletion Prostate cancer aCGH 22341455 ASB5 chr4 177224126 177340959 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 SPCS3 chr4 177224126 177340959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SPCS3 chr4 177224126 177340959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SPCS3 chr4 177241089 177253395 Deletion Prostate cancer aCGH 22341455 SPCS3 chr4 17725458 18043522 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DCAF16,FAM184B,LCORL,NCAPG chr4 177256308 177256430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 177298535 177298607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 177302195 177302280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 177342719 177353816 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 177342719 177353816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 177342719 177353816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 177362281 177477844 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 177371825 177427367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 177371825 177427367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 177371825 177427367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 177394463 177394554 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 177394463 177394585 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 17742620 17776771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM184B chr4 177436270 177437270 Gain Osteosarcoma References 21215367 NOT_FOUND chr4 177458453 177458553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 177478109 177487338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 177478126 177486490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 177480874 177491971 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 177500000 183200000 Loss Esophageal squamous carcinoma Array CGH 17470683 AGA,LINC00290,LOC285501,MGC45800,MIR1305,NEIL3,VEGFC chr4 177500000 191154276 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 ACSL1,AGA,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FLJ38576,FRG1,FRG2,HELT,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LINC00290,LOC100288255,LOC100506229,LOC285441,LOC285501,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,MTNR1A,NEIL3,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,VEGFC,WWC2,WWC2-AS2,ZFP42 chr4 177500000 191154276 Deletion Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 ACSL1,AGA,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FLJ38576,FRG1,FRG2,HELT,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LINC00290,LOC100288255,LOC100506229,LOC285441,LOC285501,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,MTNR1A,NEIL3,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,VEGFC,WWC2,WWC2-AS2,ZFP42 chr4 177509980 177565522 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 177526085 177526185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 177539194 177556208 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 177562355 177562505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 177566398 177583458 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 177570679 177583458 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 177585285 177586285 Loss Osteosarcoma References 21215367 NOT_FOUND chr4 177604690 177713894 Deletion Prostate cancer aCGH 22341455 VEGFC chr4 177616264 177625495 Gain and loss Pancreatic cancer SNP array 17952125 VEGFC chr4 177800000 182600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 AGA,LINC00290,LOC285501,NEIL3 chr4 177800000 182600000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 AGA,LINC00290,LOC285501,NEIL3 chr4 177804329 177804470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 177839693 178555185 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 AGA,NEIL3 chr4 177841684 177950889 Copy number Lung cancer - 20668451 NOT_FOUND chr4 177841684 177950889 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 177841684 177950889 Gain or loss Cancer - 20668451 NOT_FOUND chr4 177841684 177950889 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 177841684 177950889 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 177841684 177950889 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 177841684 177950889 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 177841685 177950889 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 177841685 177950889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 177841685 177950889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 177886041 177890171 Inversion Breast cancer Illumina 1M duo array 20393555 NOT_FOUND chr4 177928565 177928819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 177964612 177995473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 177979840 178089044 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 17800000 21300000 Amplification Ovarian cancer quantitative real-time PCR 17908972 DCAF16,KCNIP4,LCORL,MIR218-1,NCAPG,PACRGL,SLIT2,SLIT2-IT1 chr4 17800000 27700000 Loss Breast cancer Microarray-based CGH 17133270 ANAPC4,C4orf52,CCDC149,CCKAR,DCAF16,DHX15,GBA3,GPR125,KCNIP4,KCNIP4-IT1,LCORL,LGI2,LOC100505912,LOC285540,MIR218-1,MIR548AJ2,MIR573,NCAPG,PACRGL,PI4K2B,PPARGC1A,RBPJ,SEL1L3,SEPSECS,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TBC1D19,ZCCHC4 chr4 17800000 48200000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 ANAPC4,APBB2,ARAP2,ATP10D,ATP8A1,BEND4,C4orf19,C4orf34,C4orf52,CCDC149,CCKAR,CHRNA9,CNGA1,COMMD8,CORIN,COX7B2,DCAF16,DCAF4L1,DHX15,DTHD1,FAM114A1,FLJ13197,GABRA2,GABRA4,GABRB1,GABRG1,GBA3,GNPDA2,GPR125,GRXCR1,GUF1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA1239,KLB,KLF3,KLHL5,LCORL,LGI2,LIAS,LIMCH1,LOC100505912,LOC285540,LOC344967,LOC401127,MIR218-1,MIR4275,MIR4801,MIR4802,MIR548AJ2,MIR573,MIR574,N4BP2,NCAPG,NFXL1,NIPAL1,NSUN7,PACRGL,PCDH7,PDS5A,PGM2,PHOX2B,PI4K2B,PPARGC1A,PTTG2,RBM47,RBPJ,RELL1,RFC1,RHOH,RPL9,SEL1L3,SEPSECS,SHISA3,SLC30A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TBC1D1,TBC1D19,TEC,TLR1,TLR10,TLR6,TMEM156,TMEM33,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,WDR19,YIPF7,ZCCHC4 chr4 178088100 178089245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 17809919 17854635 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DCAF16,LCORL,NCAPG chr4 178106313 178106628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 178129549 178129649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 178163550 178169297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 178194933 183714889 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 AGA,LINC00290,LOC285501,MGC45800,MIR1305,NEIL3,ODZ3 chr4 1781991 1825205 Gain and loss Pancreatic cancer SNP array 17952125 FGFR3,LETM1 chr4 178204460 178379530 Loss Normal Birdsuite, version 1.5.2 22087296 AGA,NEIL3 chr4 178230990 178284091 Deletion Prostate cancer aCGH 22341455 NEIL3 chr4 1782501 1796000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FGFR3 chr4 178252837 178252937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NEIL3 chr4 178310418 178311079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 178311162 178311251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 178339582 178339785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 178339590 178339846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 178340104 178340204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 178351927 178363656 Deletion Prostate cancer aCGH 22341455 AGA chr4 178393822 178394150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 178411548 178411648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 178443731 178452258 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 1784558 1827772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FGFR3,LETM1 chr4 1784558 1827772 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 FGFR3,LETM1 chr4 1784558 1827772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FGFR3,LETM1 chr4 178467984 178521086 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 178467984 178521086 Gain or loss Cancer - 20668451 NOT_FOUND chr4 178467984 178521086 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 178467984 178521086 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 178467984 178521086 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 178467984 178521086 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 178468022 178520994 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 178468022 178520994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 178468022 178520994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 178477737 178477940 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 178491501 178719200 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC285501 chr4 178495014 178495088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 178540618 178780523 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC285501 chr4 178554508 179673972 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 LOC285501 chr4 17856767 17856867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LCORL chr4 178572926 178573062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 17858040 18710314 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LCORL chr4 178588918 178600585 Copy number Autism exome sequencing 22495311 NOT_FOUND chr4 178588918 178600585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 178588918 178600585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 178606177 178659149 Gain and loss Pancreatic cancer SNP array 17952125 LOC285501 chr4 178612038 178623593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 178615259 178615376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 178702625 178702712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC285501 chr4 178705030 178723600 Gain Normal Birdsuite, version 1.5.2 22087296 LOC285501 chr4 178727073 178738740 Gain and loss Pancreatic cancer SNP array 17952125 LOC285501 chr4 178745850 178770567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC285501 chr4 178751239 178751557 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC285501 chr4 178753426 178753530 Gain and loss Pancreatic cancer SNP array 17952125 LOC285501 chr4 178753442 178753531 Gain and loss Pancreatic cancer SNP array 17952125 LOC285501 chr4 178822971 178823071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285501 chr4 178859012 178859112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285501 chr4 178863374 179206987 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC285501 chr4 178866131 178866203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285501 chr4 178872784 178872854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285501 chr4 178877161 178877223 Gain and loss Pancreatic cancer SNP array 17952125 LOC285501 chr4 178912325 178912425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 178965142 178965242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 178965866 178965966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 178967231 179000336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 179040624 179102293 Gain Asthma Illumina 550K SNP array 20841430 NOT_FOUND chr4 179043438 179043517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179127175 179127275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179127424 179129525 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 179140644 179140870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 179159700 179170970 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 179198135 179198323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179198228 179198328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179198314 179198515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179198340 179198440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179205561 179205620 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 179280372 179281036 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 179289813 179325019 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 179310637 179310737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179337852 179337952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179349991 182078850 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00290 chr4 17937110 17937210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LCORL chr4 179412921 179413162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 179413079 179413162 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 179444569 179444733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179444723 179444892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179477633 179483425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 179490886 179491821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 179564843 179564958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 179582998 179583501 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 1796001 2032500 Copy number Normal ReadDepth: A Parallel R Package 21305028 FGFR3,LETM1,MIR943,SCARNA22,WHSC1,WHSC2 chr4 179673972 180001620 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr4 179676438 179676533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179688536 179688636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 17969802 29966659 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 ANAPC4,C4orf52,CCDC149,CCKAR,DHX15,GBA3,GPR125,KCNIP4,KCNIP4-IT1,LCORL,LGI2,LOC100505912,LOC285540,MIR218-1,MIR4275,MIR548AJ2,MIR573,PACRGL,PI4K2B,PPARGC1A,RBPJ,SEL1L3,SEPSECS,SLC34A2,SLIT2,SLIT2-IT1,SOD3,STIM2,TBC1D19,ZCCHC4 chr4 179702998 179703102 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 179702998 179703113 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 179705414 179705486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179844034 179844104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 179855241 179855341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 179888441 182314469 Duplication Schizophrenia PennCNV software 19197363 LINC00290 chr4 179918988 180664389 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-465K arrays 21546498 NOT_FOUND chr4 179925426 179925526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 180005002 180169855 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr4 1800096 1800145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGFR3 chr4 180031514 180076251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 180074425 180074524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 18008 58118 Copy number Lung cancer paired-end sequencing 18438408 ZNF595,ZNF718 chr4 180125511 180501873 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 180140000 182910000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 LINC00290 chr4 180142717 180142817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1801705 1801743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FGFR3 chr4 180256749 180256970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 180256860 180256960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 180256956 180257178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 180268337 180268437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 18027206 18027306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 180277648 180648856 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-446K arrays 21546498 NOT_FOUND chr4 180277648 180664389 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-461K arrays 21546498 NOT_FOUND chr4 180300812 180301154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 180334871 180335501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 18034870 18034970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 804222 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ABCA11P,ATP5I,CPLX1,LOC100129917,MFSD7,MYL5,PCGF3,PDE6B,PIGG,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 180508627 180508687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 18057581 20684540 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 MIR218-1,SLIT2,SLIT2-IT1 chr4 180671642 180671742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 180751533 180751628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 180777362 181395374 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 180800966 180801066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 18102408 18102486 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 181058965 181059065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181059804 181059904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181152305 181152405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181175366 181317834 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr4 181234289 181234389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181258501 181260000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 181274746 181274851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181331921 184863718 Copy number Lung cancer paired-end sequencing 18438408 CDKN2AIP,CLDN22,CLDN24,DCTD,FAM92A1P2,ING2,LINC00290,LOC389247,MGC45800,MIR1305,ODZ3,RWDD4,STOX2,TRAPPC11,WWC2,WWC2-AS2 chr4 181372110 181375637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 181374065 181385622 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 181380875 181380975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 18141397 18141490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181432673 181432743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181487100 181487167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181487958 181488058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181554266 181554448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 181587029 182717379 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LINC00290 chr4 181605602 181633288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 181642954 181643036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 181660784 182096773 Copy number loss Normal High-resolution SNP genotyping 21211785 LINC00290 chr4 181660784 182143071 Copy number loss Normal High-resolution SNP genotyping 21211785 LINC00290 chr4 181669986 181822346 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr4 18168266 18170359 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 181704601 182008200 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00290 chr4 181712089 181712189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181731611 181732174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 181758928 181759027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181776129 181776229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 181781109 181781191 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 181786423 181786736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 181814958 181921046 Gain Stenocardia MACArray Karyo 26K BAC-chips 21860640 NOT_FOUND chr4 181814958 181921046 Gain Vasospasm MACArray Karyo 26K BAC-chips 21860640 NOT_FOUND chr4 18185844 18185946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 181869861 181870329 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 181972392 181977939 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 181977537 183438762 Duplication Acute myeloid leukemia - 21251322 LINC00290,MGC45800,MIR1305,ODZ3 chr4 181983992 182237242 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 LINC00290 chr4 181992855 181993501 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LINC00290 chr4 181993082 181993150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LINC00290 chr4 18200000 23740000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 GBA3,GPR125,KCNIP4,KCNIP4-IT1,LOC100505912,MIR218-1,MIR548AJ2,PACRGL,SLIT2,SLIT2-IT1 chr4 182008201 182261200 Copy number Normal ReadDepth: A Parallel R Package 21305028 LINC00290 chr4 182032458 182870147 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-469K arrays 21546498 LINC00290 chr4 182097841 182208492 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 182111801 182117300 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 182112109 183249263 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MGC45800,MIR1305,ODZ3 chr4 182113798 182115299 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr4 182124422 182146272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 182145678 182549586 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 NOT_FOUND chr4 182153201 182153295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182164553 182575435 Deletion Cancer ultra-high resolution array CGH 21272361 NOT_FOUND chr4 182189546 182189603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 18221101 18224800 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 182248578 182248668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182261201 182463600 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 182292429 182292529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182293557 182294126 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr4 182293650 182293744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182300000 186690000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,DCTD,ENPP6,FAM92A1P2,HELT,ING2,IRF2,KIAA1430,LOC100506229,LOC389247,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TRAPPC11,UFSP2,WWC2,WWC2-AS2 chr4 182317870 182558911 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 182328201 182558911 Copy number loss Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 182341500 182341600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182346394 182458181 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 NOT_FOUND chr4 182365928 182979425 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 182453502 182453602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182463601 190357200 Copy number Normal ReadDepth: A Parallel R Package 21305028 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FLJ38576,HELT,ING2,IRF2,KIAA1430,KLKB1,LOC100506229,LOC285441,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,MTNR1A,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,WWC2,WWC2-AS2,ZFP42 chr4 182485709 182565328 Gain Stenocardia MACArray Karyo 25K BAC-chips 21860640 NOT_FOUND chr4 182485709 182565328 Gain Vasospasm MACArray Karyo 25K BAC-chips 21860640 NOT_FOUND chr4 182487842 182488152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 182520258 182543645 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 182521109 182540199 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 18253015 18253117 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 182534578 182539176 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 182536944 182540973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 182537052 182539939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 182537130 182651590 Deletion Normal Standard GISTIC 21527027 NOT_FOUND chr4 182600000 187300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,ENPP6,F11,FAM149A,FAM92A1P2,FLJ38576,HELT,ING2,IRF2,KIAA1430,KLKB1,LOC100506229,LOC285441,LOC389247,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,UFSP2,WWC2,WWC2-AS2 chr4 182600000 187300000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,ENPP6,F11,FAM149A,FAM92A1P2,FLJ38576,HELT,ING2,IRF2,KIAA1430,KLKB1,LOC100506229,LOC285441,LOC389247,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,UFSP2,WWC2,WWC2-AS2 chr4 182600000 187300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,ENPP6,F11,FAM149A,FAM92A1P2,FLJ38576,HELT,ING2,IRF2,KIAA1430,KLKB1,LOC100506229,LOC285441,LOC389247,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,UFSP2,WWC2,WWC2-AS2 chr4 182600000 187300000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,ENPP6,F11,FAM149A,FAM92A1P2,FLJ38576,HELT,ING2,IRF2,KIAA1430,KLKB1,LOC100506229,LOC285441,LOC389247,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,UFSP2,WWC2,WWC2-AS2 chr4 182600000 191273063 Deletion Facioscapulohumeral muscular dystrophy - 21829175 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FLJ38576,FRG1,FRG2,HELT,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LOC100288255,LOC100506229,LOC285441,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,MTNR1A,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,WWC2,WWC2-AS2,ZFP42 chr4 182600000 191273063 Deletion Muscular dystrophy FISH 21149563 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FLJ38576,FRG1,FRG2,HELT,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LOC100288255,LOC100506229,LOC285441,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,MTNR1A,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,WWC2,WWC2-AS2,ZFP42 chr4 182600000 191273063 Gain Disorders of sex development oligo V6.3 21048976 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FLJ38576,FRG1,FRG2,HELT,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LOC100288255,LOC100506229,LOC285441,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,MTNR1A,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,WWC2,WWC2-AS2,ZFP42 chr4 182600000 191273063 Loss Ovarian cancer Affymetrix 20844748 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FLJ38576,FRG1,FRG2,HELT,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LOC100288255,LOC100506229,LOC285441,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MGC45800,MIR1305,MIR3945,MLF1IP,MTNR1A,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,WWC2,WWC2-AS2,ZFP42 chr4 182610049 182610149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182659373 182659523 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr4 182686108 182686197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182717950 182718037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182769217 183096645 Loss Prostate cancer Array CGH 18632612 MGC45800,MIR1305 chr4 182775546 182775643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182783369 182815857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 182822230 182822330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182888641 182888741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182907705 182907805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 182932141 182933153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 183085976 183086076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 183088130 183862287 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 DCTD,MIR1305,ODZ3 chr4 183091990 184086599 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 DCTD,FAM92A1P2,ODZ3,WWC2,WWC2-AS2 chr4 183139904 183161418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 183158893 183158989 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 183172103 183172216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 183187997 183188119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 183200000 187100000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,DCTD,ENPP6,FAM149A,FAM92A1P2,HELT,ING2,IRF2,KIAA1430,LOC100506229,LOC389247,LOC728175,LOC731424,LRP2BP,MIR3945,MLF1IP,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,UFSP2,WWC2,WWC2-AS2 chr4 183200000 187100000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,DCTD,ENPP6,FAM149A,FAM92A1P2,HELT,ING2,IRF2,KIAA1430,LOC100506229,LOC389247,LOC728175,LOC731424,LRP2BP,MIR3945,MLF1IP,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,UFSP2,WWC2,WWC2-AS2 chr4 183200000 191154276 Loss Autism References 18414403 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CDKN2AIP,CLDN22,CLDN24,CYP4V2,DCTD,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,ENPP6,F11,FAM149A,FAM92A1P2,FAT1,FLJ38576,FRG1,FRG2,HELT,HSP90AA4P,ING2,IRF2,KIAA1430,KLKB1,LOC100288255,LOC100506229,LOC285441,LOC339975,LOC389247,LOC401164,LOC728175,LOC731424,LRP2BP,MIR3945,MLF1IP,MTNR1A,ODZ3,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,WWC2,WWC2-AS2,ZFP42 chr4 183205140 183207570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1 8321220 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCA11P,ABLIM2,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,C4orf48,C4orf6,CCDC96,CPLX1,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DGKQ,DOK7,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,FLJ36777,GAK,GRK4,GRPEL1,HAUS3,HGFAC,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KIAA0232,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100507266,LOC285484,LOC402160,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MFSD7,MIR378D1,MIR4274,MIR4798,MIR4800,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PSAPL1,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 183218646 183218726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 183221637 183237698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 183245136 183724176 Deletion Prostate cancer aCGH 22341455 ODZ3 chr4 183250913 183251013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ3 chr4 183299801 183302613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ODZ3 chr4 183299801 183302613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ODZ3 chr4 183327440 183327525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ODZ3 chr4 183336490 183336590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ3 chr4 183343655 183371344 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ODZ3 chr4 183423845 183466352 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ODZ3 chr4 183437956 183440768 Gain and loss Pancreatic cancer SNP array 17952125 ODZ3 chr4 183454790 184452826 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 CDKN2AIP,CLDN22,CLDN24,DCTD,FAM92A1P2,ING2,LOC389247,ODZ3,WWC2,WWC2-AS2 chr4 183482168 183958498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DCTD,ODZ3 chr4 183572934 183605607 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ODZ3 chr4 183620323 183969521 Gain and loss Pancreatic cancer SNP array 17952125 DCTD,FAM92A1P2,ODZ3 chr4 183632229 183632303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ODZ3 chr4 183675512 183675829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ODZ3 chr4 18369872 18369924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 18378515 18378959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1838018 1838295 Gain and loss Pancreatic cancer SNP array 17952125 LETM1 chr4 183811243 183838629 Deletion Prostate cancer aCGH 22341455 DCTD chr4 18382870 18382970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 183844961 183845025 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 183844961 183845134 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 183897355 183931997 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 183911574 183911744 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 183933465 184117496 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAM92A1P2,WWC2,WWC2-AS2 chr4 183982794 183982878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 183984375 183984512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184002 37251646 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ARAP2,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,KIAA1239,LAP3,LCORL,LDB2,LETM1,LGI2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RBPJ,RGS12,RNF212,RNF4,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TBC1D19,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF721,ZNF732,ZNF876P chr4 184012774 184022817 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 WWC2,WWC2-AS2 chr4 184020053 184020130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWC2-AS2 chr4 184020462 184241929 Deletion Prostate cancer aCGH 22341455 CLDN22,WWC2 chr4 184025315 184096257 Gain and loss Pancreatic cancer SNP array 17952125 WWC2 chr4 184031601 184031701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWC2 chr4 1840428 1951161 Gain and loss Pancreatic cancer SNP array 17952125 LETM1,WHSC1 chr4 184048238 184075624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 WWC2 chr4 184048238 184075624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWC2 chr4 184053418 184063337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWC2 chr4 1840585 1840862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LETM1 chr4 184084715 184084806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWC2 chr4 184100201 184103800 Deletion Glioma mate-paired sequence 20126413 WWC2 chr4 184109260 184141796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 WWC2 chr4 184158258 184158358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 WWC2 chr4 184186407 184213654 Gain and loss Pancreatic cancer SNP array 17952125 WWC2 chr4 184195854 184196495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WWC2 chr4 18420382 18453551 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 184239219 184241926 Deletion Prostate cancer aCGH 22341455 CLDN22,WWC2 chr4 184257440 184478924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CDKN2AIP,ING2,LOC389247 chr4 184257440 184478924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CDKN2AIP,ING2,LOC389247 chr4 184286460 184324528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 1842920 1953732 Copy number Lung cancer - 20668451 LETM1,WHSC1 chr4 1842920 1953732 Gain or loss Breast cancer - 20668451 LETM1,WHSC1 chr4 1842920 1953732 Gain or loss Cancer - 20668451 LETM1,WHSC1 chr4 1842920 1953732 Gain or loss Lung cancer - 20668451 LETM1,WHSC1 chr4 1842920 1953732 Gain or loss Ovarian cancer - 20668451 LETM1,WHSC1 chr4 1842920 1953732 Gain or loss Pancreas cancer - 20668451 LETM1,WHSC1 chr4 1842920 1953732 Gain or loss Prostate cancer - 20668451 LETM1,WHSC1 chr4 1842921 1953732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LETM1,WHSC1 chr4 1842921 1953732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LETM1,WHSC1 chr4 184334907 184335035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184365788 184369048 Deletion Prostate cancer aCGH 22341455 CDKN2AIP chr4 184366141 184366201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CDKN2AIP chr4 184394287 184394889 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 184424868 184889036 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ING2,LOC389247,RWDD4,STOX2,TRAPPC11 chr4 184426219 184432248 Deletion Prostate cancer aCGH 22341455 ING2 chr4 184432610 184432711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184447366 184492290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 184465661 184465720 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 18446 60341 Copy number Lung cancer paired-end sequencing 18438408 ZNF595,ZNF718 chr4 184473062 184473190 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 184477703 184478365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184479959 184480573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184487445 184487548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184489917 184615050 Gain and loss Pancreatic cancer SNP array 17952125 RWDD4,TRAPPC11 chr4 184504000 190806572 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CYP4V2,ENPP6,F11,FAM149A,FAT1,FLJ38576,HELT,HSP90AA4P,IRF2,KIAA1430,KLKB1,LOC100506229,LOC285441,LOC339975,LOC401164,LOC728175,LOC731424,LRP2BP,MIR3945,MLF1IP,MTNR1A,PDLIM3,RWDD4,SLC25A4,SLED1,SNX25,SORBS2,STOX2,TLR3,TRAPPC11,TRIML1,TRIML2,UFSP2,ZFP42 chr4 184539670 184539852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184540682 184541003 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 184548852 184552190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 184570765 184570866 Gain and loss Pancreatic cancer SNP array 17952125 RWDD4 chr4 184580445 184634744 Deletion Prostate cancer aCGH 22341455 TRAPPC11 chr4 184588424 184588524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAPPC11 chr4 184588954 184589054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TRAPPC11 chr4 184602794 184606340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 TRAPPC11 chr4 184602794 184606340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 TRAPPC11 chr4 184615870 184616520 Gain and loss Pancreatic cancer SNP array 17952125 TRAPPC11 chr4 184618078 184618704 Gain and loss Pancreatic cancer SNP array 17952125 TRAPPC11 chr4 184625600 184625703 Gain and loss Pancreatic cancer SNP array 17952125 TRAPPC11 chr4 184641637 184642332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184663214 184669243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184663214 184669243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184673106 184691500 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 184677828 184678007 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 184703307 184738314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 184711252 185925479 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-448K arrays 21546498 ACSL1,CASP3,CCDC111,ENPP6,IRF2,LOC100506229,LOC728175,LOC731424,MIR3945,MLF1IP,SLED1,STOX2 chr4 184728685 184971082 Loss Urothelial carcinoma array CGH validated by FISH 21177765 STOX2 chr4 184740949 184744495 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 184779792 184780487 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 184797782 184817325 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr4 184797782 184817325 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr4 184797783 184817325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184797783 184817325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 184801372 184807398 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 184817436 184884878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 STOX2 chr4 184817436 184884878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STOX2 chr4 184826508 184938874 Deletion Prostate cancer aCGH 22341455 STOX2 chr4 184827790 184827828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STOX2 chr4 184833750 184833862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STOX2 chr4 184864078 184864178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 STOX2 chr4 184869819 184869908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STOX2 chr4 184878226 184996684 Copy number Lung cancer paired-end sequencing 18438408 STOX2 chr4 184891301 184898000 Deletion Glioma mate-paired sequence 20126413 STOX2 chr4 184892812 184895963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 STOX2 chr4 184909801 184914400 Deletion Glioma mate-paired sequence 20126413 STOX2 chr4 184916985 184917062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STOX2 chr4 184930240 184930272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 STOX2 chr4 184935942 184955456 Gain and loss Pancreatic cancer SNP array 17952125 STOX2 chr4 184955590 185009893 Gain and loss Pancreatic cancer SNP array 17952125 ENPP6 chr4 184971906 184972017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 184971915 184972017 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 18500000 23100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 GBA3,GPR125,KCNIP4,KCNIP4-IT1,LOC100505912,MIR218-1,PACRGL,SLIT2,SLIT2-IT1 chr4 185002233 185002333 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 185009858 185139113 Deletion Prostate cancer aCGH 22341455 ENPP6 chr4 185010206 185037844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENPP6 chr4 185012224 189193726 Copy number Lung cancer paired-end sequencing 18438408 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,CYP4V2,ENPP6,F11,FAM149A,FAT1,FLJ38576,HELT,IRF2,KIAA1430,KLKB1,LOC100506229,LOC285441,LOC339975,LOC728175,LOC731424,LRP2BP,MIR3945,MLF1IP,MTNR1A,PDLIM3,SLC25A4,SLED1,SNX25,SORBS2,TLR3,TRIML1,TRIML2,UFSP2,ZFP42 chr4 185028802 185062690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENPP6 chr4 185063501 185065500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ENPP6 chr4 185063503 185175835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ENPP6 chr4 185063503 185175835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ENPP6 chr4 185064639 185064683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENPP6 chr4 185082145 185825039 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ACSL1,CASP3,CCDC111,ENPP6,IRF2,LOC100506229,LOC728175,LOC731424,MIR3945,MLF1IP,SLED1 chr4 185090478 185090642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ENPP6 chr4 185090499 185090642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ENPP6 chr4 185101828 185146680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 ENPP6 chr4 185122722 185122822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ENPP6 chr4 185153197 185153297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185158814 185171878 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 185159738 185159801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185180544 185180644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185189203 185189303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185201658 185314024 Gain and loss Pancreatic cancer SNP array 17952125 IRF2,LOC728175 chr4 185219668 185219768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185222541 185226350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 185223003 185226185 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 185246854 185376013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 IRF2,LOC728175 chr4 185246854 185376013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 IRF2,LOC728175 chr4 185254033 185268983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC728175 chr4 185292411 185292471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185308875 185395725 Deletion Prostate cancer aCGH 22341455 IRF2 chr4 185325898 185572372 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 CASP3,CCDC111,IRF2 chr4 185344951 185351942 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IRF2 chr4 185385009 185514168 Gain and loss Pancreatic cancer SNP array 17952125 IRF2 chr4 185388420 186510410 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-437K arrays 21546498 ACSL1,ANKRD37,C4orf47,CASP3,CCDC110,CCDC111,HELT,IRF2,KIAA1430,LOC100506229,LOC731424,LRP2BP,MIR3945,MLF1IP,PDLIM3,SLC25A4,SLED1,SNX25,SORBS2,UFSP2 chr4 185395042 185406160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 IRF2 chr4 185395088 185406620 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 IRF2 chr4 185425504 185425578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185437083 185437378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185437083 185437380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185457276 185457794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185499925 185512023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185545886 185587219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CASP3,CCDC111 chr4 185545886 185587219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CASP3,CCDC111 chr4 185548849 185570628 Deletion Prostate cancer aCGH 22341455 CASP3 chr4 1855529 1945555 Amplification or deletion Cancer Array CGH 17440070 LETM1,WHSC1 chr4 18556296 18556369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185570766 185616111 Deletion Prostate cancer aCGH 22341455 CCDC111,MLF1IP chr4 185575238 185575535 Gain and loss Pancreatic cancer SNP array 17952125 CCDC111 chr4 185595431 185595943 Gain and loss Pancreatic cancer SNP array 17952125 CCDC111 chr4 185615218 185655285 Deletion Prostate cancer aCGH 22341455 CCDC111,MLF1IP chr4 185623108 185623208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLF1IP chr4 185637058 185650279 Gain and loss Pancreatic cancer SNP array 17952125 MLF1IP chr4 185651489 185651639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLF1IP chr4 185651663 185651834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MLF1IP chr4 185676748 185747214 Deletion Prostate cancer aCGH 22341455 ACSL1,SLED1 chr4 185684064 185770852 Gain and loss Pancreatic cancer SNP array 17952125 ACSL1,LOC731424,SLED1 chr4 185785843 185807623 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 185785843 185807623 Gain or loss Cancer - 20668451 NOT_FOUND chr4 185785843 185807623 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 185785843 185807623 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 185785843 185807623 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 185785843 185807623 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 185785844 185807623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185785844 185807623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185801486 185802876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 185807920 185853097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC100506229 chr4 185807920 185853097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100506229 chr4 185852232 185892280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185852232 185892280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 185865015 185865525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 185875800 185875945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 18588530 18704459 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 185902766 185903083 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 185902766 185903083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 185913744 185984209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HELT chr4 185913744 185984209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HELT chr4 185924000 185945750 Gain and loss Pancreatic cancer SNP array 17952125 HELT chr4 18592684 18592784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185940082 185941925 Deletion Prostate cancer aCGH 22341455 HELT chr4 185946051 185991261 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 185977591 185977796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185977801 185978017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 185990384 186042358 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 186002445 186002545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 186008500 186418060 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 ANKRD37,C4orf47,CCDC110,KIAA1430,LRP2BP,SLC25A4,SNX25,UFSP2 chr4 186051899 186122364 Gain and loss Pancreatic cancer SNP array 17952125 KIAA1430,SLC25A4 chr4 186064416 186071537 Deletion Prostate cancer aCGH 22341455 SLC25A4 chr4 186080818 186125181 Deletion Prostate cancer aCGH 22341455 KIAA1430 chr4 18608476 18608576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 186120545 186120652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KIAA1430 chr4 186131283 186285119 Deletion Prostate cancer aCGH 22341455 LRP2BP,SNX25 chr4 186177001 186179500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SNX25 chr4 186177077 186178920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SNX25 chr4 186177077 186178920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX25 chr4 186269365 186269446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX25 chr4 186269369 186269429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SNX25 chr4 18628432 18628532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 186285031 186300151 Deletion Prostate cancer aCGH 22341455 LRP2BP,SNX25 chr4 18628656 18663175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 186290815 186290915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LRP2BP chr4 186300000 186610000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 ANKRD37,C4orf47,CCDC110,LRP2BP,PDLIM3,SORBS2,UFSP2 chr4 186301391 186305419 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 NOT_FOUND chr4 186301392 186305418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 186301392 186305418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 186315687 186317075 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 186317839 186321389 Deletion Prostate cancer aCGH 22341455 ANKRD37,UFSP2 chr4 186320693 186347138 Deletion Prostate cancer aCGH 22341455 ANKRD37,UFSP2 chr4 186328447 186362176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf47,UFSP2 chr4 186350544 186370820 Deletion Prostate cancer aCGH 22341455 C4orf47,CCDC110 chr4 186359001 186359097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C4orf47 chr4 186361913 186362112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C4orf47 chr4 186363989 186364077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 C4orf47 chr4 186366335 186392912 Deletion Prostate cancer aCGH 22341455 C4orf47,CCDC110 chr4 186368278 186527942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf47,CCDC110,PDLIM3,SORBS2 chr4 186368278 186527942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf47,CCDC110,PDLIM3,SORBS2 chr4 18637430 18637530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 186381943 186382156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC110 chr4 186382147 186382270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC110 chr4 186382150 186382356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC110 chr4 186392535 186392845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC110 chr4 186407524 186407584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 186421813 186456711 Deletion Prostate cancer aCGH 22341455 PDLIM3 chr4 186435860 186436178 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDLIM3 chr4 186435864 186436186 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PDLIM3 chr4 186439571 186443575 Gain and loss Pancreatic cancer SNP array 17952125 PDLIM3 chr4 186446034 186812298 Duplication Normal Affymetrix 6.0 microarrays 20967226 PDLIM3,SORBS2 chr4 186446034 186826953 Duplication Normal Affymetrix 6.0 microarrays 20967226 PDLIM3,SORBS2 chr4 186458130 186500262 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 186466884 190719413 Loss Urothelial carcinoma array CGH validated by FISH 21177765 CYP4V2,F11,FAM149A,FAT1,FLJ38576,HSP90AA4P,KLKB1,LOC285441,LOC339975,LOC401164,MTNR1A,SORBS2,TLR3,TRIML1,TRIML2,ZFP42 chr4 186506433 186666482 Gain and loss Pancreatic cancer SNP array 17952125 SORBS2 chr4 186506597 186877869 Deletion Prostate cancer aCGH 22341455 SORBS2 chr4 186522026 186537146 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SORBS2 chr4 186522027 186537146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186522027 186537146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186530591 186530691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 186536459 186536559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 186544731 186544831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 186554833 186558384 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 SORBS2 chr4 186554833 186558384 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SORBS2 chr4 186554834 186558384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186554834 186558384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186558436 186584062 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SORBS2 chr4 186558437 186584062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186558437 186584062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186574121 186574234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186587538 186607815 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SORBS2 chr4 186587538 186607816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186587538 186607816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186588233 186588307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 186589369 186598906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SORBS2 chr4 186594249 186594337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 186603336 186629879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186603336 186629879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186603340 186629863 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 SORBS2 chr4 186654305 186684564 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SORBS2 chr4 186659905 186693650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186659905 186693650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186660182 186692202 Gain and loss Pancreatic cancer SNP array 17952125 SORBS2 chr4 186662049 186662149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 18666551 18667145 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 186667495 186684564 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SORBS2 chr4 186672113 186684564 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SORBS2 chr4 186672839 186684564 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 SORBS2 chr4 186676601 186683000 Deletion Glioma mate-paired sequence 20126413 SORBS2 chr4 186678629 186681069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SORBS2 chr4 186678629 186681070 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 SORBS2 chr4 186684565 191273063 Deletion Cancer Affymetrix 250K Sty array 20164920 CYP4V2,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,F11,FAM149A,FAT1,FLJ38576,FRG1,FRG2,HSP90AA4P,KLKB1,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,SORBS2,TLR3,TRIML1,TRIML2,ZFP42 chr4 186688274 186849845 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 SORBS2 chr4 186692989 186696539 Gain and loss Pancreatic cancer SNP array 17952125 SORBS2 chr4 186696592 186722217 Gain and loss Pancreatic cancer SNP array 17952125 SORBS2 chr4 186712278 186712389 Gain and loss Pancreatic cancer SNP array 17952125 SORBS2 chr4 186726522 186761085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORBS2 chr4 186741491 186768034 Gain and loss Pancreatic cancer SNP array 17952125 SORBS2 chr4 186743592 187114516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CYP4V2,FAM149A,FLJ38576,SORBS2,TLR3 chr4 186743592 187114516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CYP4V2,FAM149A,FLJ38576,SORBS2,TLR3 chr4 186778256 186779746 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 SORBS2 chr4 186782034 186820476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SORBS2 chr4 186794071 186794152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 186798060 186831805 Gain and loss Pancreatic cancer SNP array 17952125 SORBS2 chr4 186810398 186810479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 186823268 186823368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SORBS2 chr4 186857055 186857558 Gain and loss Pancreatic cancer SNP array 17952125 SORBS2 chr4 186857102 191261905 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 CYP4V2,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,F11,FAM149A,FAT1,FLJ38576,FRG1,FRG2,HSP90AA4P,KLKB1,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,SORBS2,TLR3,TRIML1,TRIML2,ZFP42 chr4 18686701 18696500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 186868021 186868115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SORBS2 chr4 186868256 186868329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SORBS2 chr4 186883308 187252671 Gain and loss Pancreatic cancer SNP array 17952125 CYP4V2,F11,FAM149A,FLJ38576,KLKB1,LOC285441,TLR3 chr4 18688549 18694648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 18697657 18733331 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 NOT_FOUND chr4 18697657 18733331 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 NOT_FOUND chr4 18697657 18733331 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 186990308 187006251 Deletion Prostate cancer aCGH 22341455 TLR3 chr4 187006178 187006257 Gain and loss Pancreatic cancer SNP array 17952125 TLR3 chr4 187006178 187006270 Gain and loss Pancreatic cancer SNP array 17952125 TLR3 chr4 187025402 187025502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 187035728 187069397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM149A chr4 187065994 187093816 Deletion Prostate cancer aCGH 22341455 FAM149A chr4 187072327 187105772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAM149A chr4 187093260 187093488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM149A chr4 187098238 187098371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 187098240 187098450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 187100000 191154276 Gain or loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 CYP4V2,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,F11,FAT1,FLJ38576,FRG1,FRG2,HSP90AA4P,KLKB1,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187100000 191154276 Loss Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 CYP4V2,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,F11,FAT1,FLJ38576,FRG1,FRG2,HSP90AA4P,KLKB1,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187112673 187134616 Deletion Prostate cancer aCGH 22341455 CYP4V2 chr4 18713766 19697121 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 187148671 187179624 Deletion Prostate cancer aCGH 22341455 KLKB1 chr4 187157593 187158012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KLKB1 chr4 187184593 187184734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 187187117 187210834 Deletion Prostate cancer aCGH 22341455 F11,LOC285441 chr4 187189252 187189352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 F11 chr4 187201607 187201707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 F11 chr4 187212450 187212550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285441 chr4 187227302 187243246 Copy number Lung cancer - 20668451 LOC285441 chr4 187227302 187243246 Gain or loss Breast cancer - 20668451 LOC285441 chr4 187227302 187243246 Gain or loss Cancer - 20668451 LOC285441 chr4 187227302 187243246 Gain or loss Lung cancer - 20668451 LOC285441 chr4 187227302 187243246 Gain or loss Ovarian cancer - 20668451 LOC285441 chr4 187227302 187243246 Gain or loss Pancreas cancer - 20668451 LOC285441 chr4 187227302 187243246 Gain or loss Prostate cancer - 20668451 LOC285441 chr4 187227303 187243244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC285441 chr4 187227303 187243244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC285441 chr4 187300000 191273063 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FAT1,FRG1,FRG2,HSP90AA4P,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187300000 191273063 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FAT1,FRG1,FRG2,HSP90AA4P,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187300000 191273063 Copy number Normal - 20680643 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FAT1,FRG1,FRG2,HSP90AA4P,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187300000 191273063 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FAT1,FRG1,FRG2,HSP90AA4P,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187300000 191273063 Gain Schizophrenia Affymetrix 6.0 array 21399695 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FAT1,FRG1,FRG2,HSP90AA4P,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187300000 191273063 Loss Cervical cancer Array CGH 21063398 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FAT1,FRG1,FRG2,HSP90AA4P,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187300000 191273063 Microdeletion Developmental delay - 22127048 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FAT1,FRG1,FRG2,HSP90AA4P,LOC100288255,LOC285441,LOC339975,LOC401164,MTNR1A,TRIML1,TRIML2,ZFP42 chr4 187302989 187330810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC285441 chr4 187302989 187330810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC285441 chr4 187307320 187330811 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 LOC285441 chr4 187322764 187322889 Gain and loss Pancreatic cancer SNP array 17952125 LOC285441 chr4 187322822 187322889 Gain and loss Pancreatic cancer SNP array 17952125 LOC285441 chr4 187328801 187336800 Deletion Glioma mate-paired sequence 20126413 LOC285441 chr4 187330342 187335229 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 LOC285441 chr4 187330507 187348434 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 LOC285441 chr4 187349668 187371605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC285441 chr4 187349668 187371605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC285441 chr4 187365458 187381399 Gain and loss Pancreatic cancer SNP array 17952125 LOC285441 chr4 187382366 187382533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285441 chr4 187382555 187382733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285441 chr4 187385619 187416618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC285441 chr4 187385619 187416618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC285441 chr4 187424112 187447829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 187424112 187447829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 18743035 18768558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 187432961 187497209 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 MTNR1A chr4 18743728 18762800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 18744230 18972228 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 187445541 187468443 Gain and loss Pancreatic cancer SNP array 17952125 MTNR1A chr4 187450937 187451717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 187450956 187451729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 187454199 187455123 Gain and loss Pancreatic cancer SNP array 17952125 MTNR1A chr4 187454808 187476536 Deletion Prostate cancer aCGH 22341455 MTNR1A chr4 187460331 187489750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTNR1A chr4 187461576 187483679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTNR1A chr4 187463728 187478458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MTNR1A chr4 187465167 187465657 Gain Normal 244K array 17666407 MTNR1A chr4 187467676 187511563 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAT1,MTNR1A chr4 187468713 187473762 Gain Normal 244K array 17666407 MTNR1A chr4 187473468 187474218 Gain Normal 244K array 17666407 MTNR1A chr4 187481903 187515594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FAT1 chr4 187486866 187487747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 187487062 187487775 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 187488127 187507092 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 18748980 18784696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 18749492 18797255 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 187504814 187761728 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 FAT1 chr4 187508936 187644986 Deletion Prostate cancer aCGH 22341455 FAT1 chr4 18751447 18768537 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 187523815 187554773 Gain and loss Pancreatic cancer SNP array 17952125 FAT1 chr4 187535493 187535593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAT1 chr4 187552805 188277014 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 FAT1,LOC339975 chr4 187562427 187585083 Gain and loss Pancreatic cancer SNP array 17952125 FAT1 chr4 187562636 187767160 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 FAT1 chr4 187570439 188216746 Loss Oral cancer 105K CGH oligonucleotide array 21386901 FAT1 chr4 18759901 18760917 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 187615702 187615774 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FAT1 chr4 187625030 188308224 Gain and loss Pancreatic cancer SNP array 17952125 FAT1,LOC339975 chr4 187636479 187797491 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 FAT1 chr4 187659257 187659363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 187691802 187713531 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 187691802 187713531 Gain or loss Cancer - 20668451 NOT_FOUND chr4 187691802 187713531 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 187691802 187713531 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 187691802 187713531 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 187691802 187713531 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 187691808 187713715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 187691808 187713715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 187707189 187735460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 187714050 187741489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 187745932 187881981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 187745932 187881981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 187797412 187797514 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 187829266 187851746 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 187832967 187867669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 187840367 187840462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 187851511 187851838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 187877464 187877564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 187884098 188020136 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 187895547 188007613 Deletion Oral cancer Array-based CGH 17325662 NOT_FOUND chr4 18792503 18792590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 18793099 18793199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 187979016 187979116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 18801357 18801457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188032414 188032514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188032692 188033011 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 188050551 188050618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188073025 188073125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188080672 188087400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 188099187 188115497 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 188117501 188131000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 188118805 188118887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188195740 188230392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339975 chr4 188199891 188200036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188208252 188209683 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 188224761 188225384 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 LOC339975 chr4 188225707 188492275 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 LOC339975 chr4 188238789 188275480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339975 chr4 188241692 188270534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339975 chr4 188250819 188282059 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339975 chr4 188250847 188276491 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339975 chr4 188253397 188271782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339975 chr4 188254065 188254163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339975 chr4 188254417 188273005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339975 chr4 188254603 188270952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC339975 chr4 188278753 188280504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC339975 chr4 188353092 189810394 Gain Normal 244K array 17666407 LOC339975,LOC401164,TRIML1,TRIML2,ZFP42 chr4 188371075 188371166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339975 chr4 188393308 188393408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC339975 chr4 188400000 189500000 Copy number Cognitive impairment - 21505072 LOC339975,LOC401164,TRIML1,TRIML2,ZFP42 chr4 188441294 188441394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188452200 188452300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188464541 188476867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 188534693 188534778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188537710 188537809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188543442 188576947 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 188578615 188610223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 18859674 18859761 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 188636510 191273063 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-458K arrays 21546498 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,HSP90AA4P,LOC100288255,LOC401164,TRIML1,TRIML2,ZFP42 chr4 188650546 188650646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188685948 188686120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188686151 188686338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188687352 188687452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 18870982 18916113 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 188718084 189093837 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 TRIML1,TRIML2,ZFP42 chr4 188793449 188793581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 188810226 188810364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 188840287 188840362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 188850539 188850636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 188904303 188906320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 188904303 188906320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 188921806 188921906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFP42 chr4 188925719 188941080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFP42 chr4 189051560 189277198 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 TRIML1 chr4 189052964 190737252 Microdeletion Epilepsy HumanHap 550K, and HumanHap 317K 21635232 HSP90AA4P,LOC401164,TRIML1 chr4 189079220 189079274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189097780 189097966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189128412 189129432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189147677 189147845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189149003 189363883 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 189153919 189163193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189153919 189163193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189165424 189376252 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 18916705 18960931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 189177158 190335660 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 LOC401164 chr4 189178175 189178275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189181045 189189294 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 189196361 189196483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 189208391 189331066 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr4 189220867 189220956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189224343 189224954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 189249421 189263402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189249421 189263402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 18925442 18925531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189265171 189265264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 189266573 189267587 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 189279679 189279782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189292074 189301348 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 189297592 189305643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189297592 189305643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189345486 190699968 Copy number Lung cancer paired-end sequencing 18438408 HSP90AA4P,LOC401164 chr4 18936287 18936387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189387576 189401557 Gain and loss Pancreatic cancer SNP array 17952125 LOC401164 chr4 189417834 189417933 Gain and loss Pancreatic cancer SNP array 17952125 LOC401164 chr4 189417835 189417936 Gain and loss Pancreatic cancer SNP array 17952125 LOC401164 chr4 189427152 189427851 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC401164 chr4 189428312 189473064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC401164 chr4 189430038 189452008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC401164 chr4 189431275 189465125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 LOC401164 chr4 189435747 189443798 Gain and loss Pancreatic cancer SNP array 17952125 LOC401164 chr4 189447999 189448099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC401164 chr4 189458406 189469353 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 LOC401164 chr4 189459436 189638677 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 LOC401164 chr4 189490552 189490646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC401164 chr4 189500000 190700000 Copy number Cognitive impairment - 21505072 HSP90AA4P,LOC401164 chr4 189520000 190700000 Copy number Cognitive impairment - 21505072 HSP90AA4P,LOC401164 chr4 189523065 189523129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189527452 189539578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 189540090 190704726 Loss Autism qPCR 20531469 HSP90AA4P chr4 189608763 189608863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189609636 189609736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189622999 189623098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189635594 189668751 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 189660440 189765655 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 NOT_FOUND chr4 189669069 189669169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189674071 189675900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 189696883 189727727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 189707059 190425991 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 HSP90AA4P chr4 189716801 189762650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 189732515 189865993 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 189732885 189865993 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 189737452 190802642 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 HSP90AA4P chr4 189753545 189837970 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 189781510 189803755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 189797533 189801574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 189799084 189813673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 189860000 190500000 Duplication Schizophrenia BAC array CGH 17989066 HSP90AA4P chr4 189873556 189873656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 189896500 189897680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 189921955 189922038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 189924391 191164126 Deletion Autism Illumina HumanHap553 BeadChip 20858243 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,HSP90AA4P,LOC100288255 chr4 189981756 189981864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 189987156 191543017 Copy number Normal Quantitative Real-Time PCR 17666543 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,HSP90AA4P,LOC100288255 chr4 189989636 189989736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190030234 190030552 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190032287 190033212 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 190034676 190035797 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 19012245 21722382 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KCNIP4,MIR218-1,PACRGL,SLIT2,SLIT2-IT1 chr4 190124204 190124304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190204901 190209000 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 190206671 190207024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190226929 190227077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190263447 191273063 Substitutions and indels small cell lung cancer array-CGH 20016488 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,HSP90AA4P,LOC100288255 chr4 190266738 191273063 Copy number Lung cancer paired-end sequencing 18438408 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,HSP90AA4P,LOC100288255 chr4 190275435 190275537 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190288091 190288226 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 190294993 190301266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190310835 190310911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190324300 190594225 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 HSP90AA4P chr4 190330726 190367438 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 190330726 190368436 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 190335556 190367438 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 190335556 190368436 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 190335556 190381654 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 190338256 190367438 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 190350000 190900000 Loss Breast cancer aCGH 21509527 FRG1,HSP90AA4P chr4 190357201 190711400 Copy number Normal ReadDepth: A Parallel R Package 21305028 HSP90AA4P chr4 190384723 190432112 Gain Normal Birdsuite, version 1.5.2 22087296 HSP90AA4P chr4 190389783 190401171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HSP90AA4P chr4 190398953 190641305 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 190407376 190442411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190418856 190443793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190423295 190440872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190423707 190453849 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190428595 190437456 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 190428749 190437423 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 190428794 190473672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190429229 190463726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190432112 190436258 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 190432112 190436258 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 190436258 190701251 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 190448265 190555074 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 190457567 190574280 Gain Stenocardia MACArray Karyo 27K BAC-chips 21860640 NOT_FOUND chr4 190457567 190574280 Gain Vasospasm MACArray Karyo 27K BAC-chips 21860640 NOT_FOUND chr4 190465501 190467500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 190467338 190467715 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 190476456 190555074 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 190481483 190554482 Allelic imbalance Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 190481483 190554482 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 190490833 190491154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190491032 190491100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190494842 190494917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190507779 190507879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190522262 190522418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190528413 190528731 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190537154 190579293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190538605 190580179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190539407 190539697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190555162 190592073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190565447 190579363 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190623501 190625500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 190628999 190629098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190630170 190634917 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190631295 190633338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 190637451 190637533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190642377 190642457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190644004 190788098 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 190654093 190654420 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 NOT_FOUND chr4 190658160 191070245 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,LOC100288255 chr4 190658194 190658267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190659703 190659857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190678681 190678781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190684304 190684483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190706301 191176358 Loss Oral cancer 105K CGH oligonucleotide array 21386901 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,LOC100288255 chr4 190707001 190757500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 190708597 190708800 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 190711401 190913800 Copy number Normal ReadDepth: A Parallel R Package 21305028 FRG1 chr4 190712135 190794324 Gain Stenocardia MACArray Karyo 28K BAC-chips 21860640 NOT_FOUND chr4 190712135 190794324 Gain Vasospasm MACArray Karyo 28K BAC-chips 21860640 NOT_FOUND chr4 190712808 191273063 Allelic imbalance Normal High-resolution SNP genotyping 21211785 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,LOC100288255 chr4 190714441 190909478 Copy number Lung cancer paired-end sequencing 18438408 FRG1 chr4 190719106 190921532 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 FRG1 chr4 190719106 190921532 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 FRG1 chr4 190726332 190726394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190749506 190749558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190749885 190749965 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 190759058 190759247 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190759501 190773000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 19076181 19076276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 190773001 190775000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 190773554 190823074 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 190775001 190918000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FRG1 chr4 190784196 191064871 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,LOC100288255 chr4 190784196 191070245 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,LOC100288255 chr4 190791610 190791720 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 190791610 190791720 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 190823936 190857480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190835149 190860068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190839858 190862858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRG1 chr4 190843182 190845134 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 190845368 190920873 Gain Normal TaqMan assays 20972442 FRG1 chr4 190848850 190849672 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr4 190861634 190861980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 FRG1 chr4 190862170 190876588 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 FRG1 chr4 190866051 191070245 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,LOC100288255 chr4 190866530 191273063 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG1,FRG2,LOC100288255 chr4 190867687 190867862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FRG1 chr4 190899086 191022547 Duplication Normal Affymetrix 6.0 microarrays 20967226 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG2,LOC100288255 chr4 190899926 190900720 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190915628 191053827 Loss Normal 244K array 17666407 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG2,LOC100288255 chr4 190922297 190993476 Loss Autism qPCR 20531469 DUX2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG2,LOC100288255 chr4 190922957 191140365 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG2,LOC100288255 chr4 190925194 191273063 Copy number Lung cancer paired-end sequencing 18438408 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,FRG2,LOC100288255 chr4 190963818 191006683 Loss aortic dissecting aneurysms Array-CGH 22263138 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6 chr4 190963818 191006683 Loss Stenocardia MACArray Karyo 97K BAC-chips 21860640 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6 chr4 190963818 191006683 Loss Vasospasm MACArray Karyo 97K BAC-chips 21860640 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6 chr4 190967206 190988669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 190978444 190978785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 190980411 190992496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 DUX2,DUX4L3,DUX4L4,DUX4L5,DUX4L6 chr4 19099 31303405 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,LAP3,LCORL,LDB2,LETM1,LGI2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,QDPR,RAB28,RBPJ,RGS12,RNF212,RNF4,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D14,TBC1D19,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 19099 38652398 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ARAP2,ATP5I,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf48,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CLNK,CLRN2,CPEB2,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DCAF16,DEFB131,DGKQ,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM184B,FAM193A,FAM200B,FAM53A,FAM86EP,FBXL5,FGFBP1,FGFBP2,FGFR3,FGFRL1,FLJ13197,FLJ35424,FLJ36777,FLJ39653,GAK,GBA3,GPR125,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,KIAA1239,LAP3,LCORL,LDB2,LETM1,LGI2,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC402160,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MED28,MFSD10,MFSD7,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4800,MIR4801,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCDH7,PCGF3,PDE6B,PGM2,PI4K2B,PIGG,POLN,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBPJ,RELL1,RGS12,RNF212,RNF4,S100P,SCARNA22,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,SPON2,STIM2,STK32B,STX18,TACC3,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WDR1,WFS1,WHSC1,WHSC2,ZBTB49,ZCCHC4,ZFYVE28,ZNF141,ZNF518B,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 19099 4394990 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ABCA11P,ADD1,ADRA2C,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,DOK7,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,GAK,GRK4,HAUS3,HGFAC,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC100133461,LOC402160,LRPAP1,LYAR,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MSANTD1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 19100 3379181 Loss Developmental delay affymetrix genechip 500K/SNP 6.21 array 21147756 ABCA11P,ADD1,ATP5I,C4orf48,CPLX1,CRIPAK,CTBP1,CTBP1-AS1,DGKQ,FAM193A,FAM53A,FGFR3,FGFRL1,GAK,GRK4,HAUS3,HTT,HTT-AS1,IDUA,LETM1,LOC100129917,LOC100130872,LOC402160,MAEA,MFSD10,MFSD7,MIR4800,MIR943,MSANTD1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,PCGF3,PDE6B,PIGG,POLN,RGS12,RNF212,RNF4,SCARNA22,SH3BP2,SLBP,SLC26A1,SPON2,TACC3,TMED11P,TMEM129,TMEM175,TNIP2,UVSSA,WHSC1,WHSC2,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 191005794 191006017 Gain and loss Pancreatic cancer SNP array 17952125 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6 chr4 191005855 191006017 Gain and loss Pancreatic cancer SNP array 17952125 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6 chr4 191029941 191210542 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 191033001 191136500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 191041992 191061926 Gain Normal TaqMan assays 20972442 NOT_FOUND chr4 191051869 191052067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191052245 191254119 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 191059369 191254119 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 191059369 191254119 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 191074865 191210542 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 191074865 191254119 Duplication Normal Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 191074865 191254119 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 191078205 191088769 Gain Normal 244K array 17666407 NOT_FOUND chr4 191078834 191254119 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 NOT_FOUND chr4 191095710 191118383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 191096777 191210542 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 191096777 191254119 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 191098967 191121353 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 NOT_FOUND chr4 191098968 191121350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191098968 191121350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191099524 191121377 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr4 191129479 191129914 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 191134762 191156887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 191136670 191140365 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 191137430 191157695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 191137590 191153107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 191140366 191146320 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 191140672 191143020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191140672 191143020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191141420 191141524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191141837 191149225 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 191146321 191152644 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 191152644 191195137 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 19116260 19545872 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 191173287 191173404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191175845 191175963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191182516 191185406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191182516 191185406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191195137 191261904 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 191204243 191261904 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 191218529 191218624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191229661 191230935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191232954 191234228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191237123 191259507 Deletion T-cell lymphomas Array-CGH 22341440 NOT_FOUND chr4 191238151 191240721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191238151 191240721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191242841 191244115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191246141 191247415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 191246141 191247415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 19128801 19132500 Deletion Glioma mate-paired sequence 20126413 NOT_FOUND chr4 191328120 191273063 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr4 19135402 20284932 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 SLIT2 chr4 1916586 1917010 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 WHSC1 chr4 19220937 19221037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 19252211 19252551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 19253178 19253242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 1928999 1929344 Gain and loss Pancreatic cancer SNP array 17952125 WHSC1 chr4 1931566 1931911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WHSC1 chr4 19416674 19416774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1943594 1943718 Gain and loss Pancreatic cancer SNP array 17952125 WHSC1 chr4 1 9443448 Amplification Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,C4orf48,C4orf6,CCDC96,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DGKQ,DOK7,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,FLJ36777,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KIAA0232,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC285484,LOC402160,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MFSD7,MIR378D1,MIR4274,MIR4798,MIR4800,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PSAPL1,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 1946161 1946285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WHSC1 chr4 1951977 1979068 Gain and loss Pancreatic cancer SNP array 17952125 SCARNA22,WHSC1 chr4 1954178 1954668 Loss Normal 244K array 17666407 WHSC1 chr4 1954248 1981635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SCARNA22,WHSC1 chr4 1954248 1981635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SCARNA22,WHSC1 chr4 19558008 19572311 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 1957909 1958002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 WHSC1 chr4 19591428 20348561 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 SLIT2 chr4 19598837 19598931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 196418 239769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ZNF876P chr4 196418 239769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZNF876P chr4 19701858 19701958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 197052201 191273063 Deletion Glioma mate-paired sequence 20126413 chr4 19755533 19755619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 19780000 23750000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 GBA3,GPR125,KCNIP4,KCNIP4-IT1,LOC100505912,MIR218-1,MIR548AJ2,PACRGL,SLIT2,SLIT2-IT1 chr4 19805372 19805472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 1 9845816 Gain Wilms tumour 250K Genotyping Arrays 21544195 ABCA11P,ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ATP5I,BLOC1S4,C4orf48,C4orf6,CCDC96,CPLX1,CPZ,CRIPAK,CRMP1,CTBP1,CTBP1-AS1,CYTL1,DEFB131,DGKQ,DOK7,DRD5,EVC,EVC2,FAM193A,FAM53A,FAM86EP,FGFR3,FGFRL1,FLJ35424,FLJ36777,GAK,GPR78,GRK4,GRPEL1,HAUS3,HGFAC,HMX1,HTRA3,HTT,HTT-AS1,IDUA,JAKMIP1,KIAA0232,LETM1,LOC100129917,LOC100129931,LOC100130872,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100507266,LOC285484,LOC402160,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAEA,MAN2B2,MFSD10,MFSD7,MIR378D1,MIR4274,MIR4798,MIR4800,MIR548I2,MIR943,MRFAP1,MRFAP1L1,MSANTD1,MSX1,MXD4,MYL5,NAT8L,NOP14,NOP14-AS1,NSG1,OTOP1,PCGF3,PDE6B,PIGG,POLN,PPP2R2C,PSAPL1,RGS12,RNF212,RNF4,S100P,SCARNA22,SH3BP2,SH3TC1,SLBP,SLC26A1,SLC2A9,SORCS2,SPON2,STK32B,STX18,TACC3,TADA2B,TBC1D14,TMED11P,TMEM128,TMEM129,TMEM175,TNIP2,TRMT44,USP17,USP17L5,USP17L6P,UVSSA,WFS1,WHSC1,WHSC2,ZBTB49,ZFYVE28,ZNF141,ZNF595,ZNF718,ZNF721,ZNF732,ZNF876P chr4 19862501 19865500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 19864332 20229886 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr4 19864333 20229886 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 19864333 20229886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 19864333 20229886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 19928015 19928115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 19931152 20297057 Gain and loss Pancreatic cancer SNP array 17952125 SLIT2 chr4 19946488 19946540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 20000119 20000219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 20016637 20017623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 20016666 20017955 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 NOT_FOUND chr4 20042752 20042852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 20083851 20083969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 2013352 2015493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 2013352 2015493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 2013486 2015495 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr4 20138996 20139105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 20200814 20200869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 20205995 20212010 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 NOT_FOUND chr4 20206167 20206276 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 20268454 20303779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 SLIT2 chr4 2028818 2034866 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 2031037 2031360 Gain Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr4 2031037 2031360 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr4 20311198 20363609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SLIT2 chr4 20311198 20363609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SLIT2 chr4 2031385 2037433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 2032501 2053000 Copy number Normal ReadDepth: A Parallel R Package 21305028 C4orf48 chr4 20339328 21559402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 KCNIP4,MIR218-1,PACRGL,SLIT2,SLIT2-IT1 chr4 20339328 21559402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 KCNIP4,MIR218-1,PACRGL,SLIT2,SLIT2-IT1 chr4 20374174 20430799 Gain and loss Pancreatic cancer SNP array 17952125 SLIT2,SLIT2-IT1 chr4 20378121 20378221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLIT2 chr4 20407321 21626523 Gain and loss Pancreatic cancer SNP array 17952125 KCNIP4,MIR218-1,PACRGL,SLIT2 chr4 2040876 2198189 Gain and loss Pancreatic cancer SNP array 17952125 C4orf48,NAT8L,POLN chr4 2043443 2200756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf48,NAT8L,POLN chr4 2043443 2200756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf48,NAT8L,POLN chr4 20463823 20463923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SLIT2 chr4 20475567 21722382 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 KCNIP4,MIR218-1,PACRGL,SLIT2 chr4 2053001 2217500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NAT8L,POLN chr4 20586523 21256425 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 KCNIP4,PACRGL,SLIT2 chr4 2060084 2086737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NAT8L,POLN chr4 20650137 20650237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 20718244 21027774 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 KCNIP4,PACRGL chr4 20739249 20739349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 20760993 20761191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNIP4 chr4 20768101 20778200 Deletion Glioma mate-paired sequence 20126413 KCNIP4 chr4 20770084 20776212 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 KCNIP4 chr4 20770085 20776195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNIP4 chr4 20780541 20780641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 20789189 20789385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNIP4 chr4 20814400 20845202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 20819192 20819292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 20822542 20855256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 20823083 20852566 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 20823340 20875531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 20902027 20902145 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNIP4 chr4 20944461 20960842 Loss Autism qPCR 20531469 KCNIP4 chr4 20968091 20968191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 20976891 20994352 Copy number Normal Birdsuite, version 1.5.2 22087296 KCNIP4 chr4 20977779 20994352 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNIP4 chr4 20977779 20997762 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNIP4 chr4 20977791 20981137 Loss Normal Birdsuite, version 1.5.2 22087296 KCNIP4 chr4 20978189 20986002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNIP4 chr4 20981089 20985937 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 KCNIP4 chr4 20981089 20992826 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNIP4 chr4 20981089 20997762 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNIP4 chr4 20981125 20992826 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNIP4 chr4 20981137 20985949 Loss Normal Birdsuite, version 1.5.2 22087296 KCNIP4 chr4 20981369 20992826 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNIP4 chr4 20981369 20997762 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 KCNIP4 chr4 21024273 21058628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 21041096 21057901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 21041512 21054693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 21044608 34539160 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 ANAPC4,C4orf52,CCDC149,CCKAR,DHX15,GBA3,GPR125,KCNIP4,KCNIP4-IT1,LGI2,LOC100505912,LOC285540,MIR4275,MIR548AJ2,MIR573,PCDH7,PI4K2B,PPARGC1A,RBPJ,SEL1L3,SEPSECS,SLC34A2,SOD3,STIM2,TBC1D19,ZCCHC4 chr4 21049288 21049388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21060042 21097363 Loss Normal Birdsuite, version 1.5.2 22087296 KCNIP4 chr4 21066543 21067484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNIP4 chr4 21083998 21084082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21124079 21124119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21139418 21139565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 KCNIP4 chr4 21161002 21167113 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 KCNIP4 chr4 21167113 55213974 Deletion Cancer CGH 22183965 ANAPC4,APBB2,ARAP2,ATP10D,ATP8A1,BEND4,C4orf19,C4orf34,C4orf52,CCDC149,CCKAR,CHIC2,CHRNA9,CNGA1,COMMD8,CORIN,COX7B2,CWH43,DANCR,DCAF4L1,DCUN1D4,DHX15,DTHD1,ERVMER34-1,FAM114A1,FIP1L1,FLJ13197,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GBA3,GNPDA2,GPR125,GRXCR1,GSX2,GUF1,KCNIP4,KCNIP4-IT1,KCTD8,KIAA1239,KLB,KLF3,KLHL5,LGI2,LIAS,LIMCH1,LNX1,LNX1-AS1,LNX1-AS2,LOC100505912,LOC152578,LOC285540,LOC344967,LOC401127,LRRC66,MIR4275,MIR4449,MIR4801,MIR4802,MIR548AJ2,MIR573,MIR574,N4BP2,NFXL1,NIPAL1,NSUN7,OCIAD1,OCIAD2,PCDH7,PDGFRA,PDS5A,PGM2,PHOX2B,PI4K2B,PPARGC1A,PTTG2,RASL11B,RBM47,RBPJ,RELL1,RFC1,RHOH,RPL21P44,RPL9,SCFD2,SEL1L3,SEPSECS,SGCB,SHISA3,SLAIN2,SLC10A4,SLC30A9,SLC34A2,SNORA26,SOD3,SPATA18,STIM2,TBC1D1,TBC1D19,TEC,TLR1,TLR10,TLR6,TMEM156,TMEM33,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP46,WDR19,YIPF7,ZAR1,ZCCHC4 chr4 21234840 21234940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21252875 21275929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 21300000 27700000 Loss Gastric cancer Array CGH 16891809 ANAPC4,C4orf52,CCDC149,CCKAR,DHX15,GBA3,GPR125,KCNIP4,KCNIP4-IT1,LGI2,LOC100505912,LOC285540,MIR548AJ2,MIR573,PI4K2B,PPARGC1A,RBPJ,SEL1L3,SEPSECS,SLC34A2,SOD3,STIM2,TBC1D19,ZCCHC4 chr4 21303831 21303948 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 KCNIP4 chr4 21324771 23173816 LOH Normal High-resolution SNP genotyping 21211785 GBA3,GPR125,KCNIP4,KCNIP4-IT1,LOC100505912 chr4 21339654 21339792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21393215 21393292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21395509 21395609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21430088 21430188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21437698 21482325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 2145824 3238690 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 ADD1,FAM193A,GRK4,HAUS3,HTT,HTT-AS1,LOC402160,MFSD10,MIR4800,MXD4,NOP14,NOP14-AS1,POLN,RNF4,SH3BP2,TNIP2,ZFYVE28 chr4 21470306 21470406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21487099 21487199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21549473 21656828 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KCNIP4 chr4 21622731 21629271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 KCNIP4 chr4 21642859 21642933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21687850 21844544 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KCNIP4 chr4 21687850 21906987 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 KCNIP4,KCNIP4-IT1 chr4 21796876 21796981 Gain and loss Pancreatic cancer SNP array 17952125 KCNIP4 chr4 21796878 21796981 Gain and loss Pancreatic cancer SNP array 17952125 KCNIP4 chr4 21923171 21923271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 KCNIP4 chr4 21959264 21993423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 21960171 21960275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 21967582 22002601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 21993513 21993657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 21998097 22126770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 21998097 22126770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 2199894 2213658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 POLN chr4 2199894 2213658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 POLN chr4 2200011 2200086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 POLN chr4 2200803 2211122 Gain and loss Pancreatic cancer SNP array 17952125 POLN chr4 22027342 22027446 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 2203430 2439033 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 HAUS3,LOC402160,MIR4800,MXD4,POLN,ZFYVE28 chr4 22044875 22044975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 22065597 22193954 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 22111163 22111260 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 22115422 22554297 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 GPR125,LOC100505912 chr4 2216391 2231054 Gain and loss Pancreatic cancer SNP array 17952125 HAUS3,POLN chr4 2217501 2246000 Copy number Normal ReadDepth: A Parallel R Package 21305028 HAUS3,POLN chr4 2218958 2233537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAUS3,POLN chr4 2218958 2233537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAUS3,POLN chr4 2220991 2233621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAUS3,POLN chr4 2221039 2255335 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 HAUS3,MIR4800,MXD4,POLN chr4 22214453 23782881 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 GBA3,GPR125,LOC100505912,MIR548AJ2 chr4 22272088 22272342 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 22272207 22275322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 22287781 22287861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 22293290 22405586 Loss Normal Birdsuite, version 1.5.2 22087296 GPR125,LOC100505912 chr4 22303688 22430289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GPR125,LOC100505912 chr4 22303688 22430289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GPR125,LOC100505912 chr4 22314591 22320167 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 22338096 22338671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC100505912 chr4 22370859 22497460 Gain and loss Pancreatic cancer SNP array 17952125 GPR125 chr4 2238556 2387600 Gain and loss Pancreatic cancer SNP array 17952125 HAUS3,MIR4800,MXD4,ZFYVE28 chr4 22405267 22405842 Gain and loss Pancreatic cancer SNP array 17952125 GPR125 chr4 2241123 2390167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 HAUS3,MIR4800,MXD4,ZFYVE28 chr4 2241123 2390167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HAUS3,MIR4800,MXD4,ZFYVE28 chr4 22429956 22463084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 GPR125 chr4 22455289 22455389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GPR125 chr4 2246001 2441500 Copy number Normal ReadDepth: A Parallel R Package 21305028 LOC402160,MIR4800,MXD4,ZFYVE28 chr4 22571207 22571307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 22639619 22639699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2269 24618 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 2269 41416 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 2269 52114 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 2269 55966 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF595,ZNF718 chr4 2269 65174 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF595,ZNF718 chr4 2269 70298 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZNF595,ZNF718 chr4 2272211 2272270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE28 chr4 22738710 22740912 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GBA3 chr4 22764967 22765067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBA3 chr4 22813376 22813476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBA3 chr4 2281 49072 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 2281 55978 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 ZNF595,ZNF718 chr4 22815668 22823098 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 GBA3 chr4 22821155 22821255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GBA3 chr4 2282 9896 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 2285155 2285463 Gain and loss Pancreatic cancer SNP array 17952125 ZFYVE28 chr4 2287722 2288030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE28 chr4 2287724 2288031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE28 chr4 22891028 22922895 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 2289316 2289381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE28 chr4 22905097 22905257 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 2293591 2293665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE28 chr4 23093325 23093425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 23100000 27900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANAPC4,C4orf52,CCDC149,CCKAR,DHX15,LGI2,LOC285540,MIR548AJ2,MIR573,PI4K2B,PPARGC1A,RBPJ,SEL1L3,SEPSECS,SLC34A2,SOD3,STIM2,TBC1D19,ZCCHC4 chr4 23100000 27900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ANAPC4,C4orf52,CCDC149,CCKAR,DHX15,LGI2,LOC285540,MIR548AJ2,MIR573,PI4K2B,PPARGC1A,RBPJ,SEL1L3,SEPSECS,SLC34A2,SOD3,STIM2,TBC1D19,ZCCHC4 chr4 23143993 24155850 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR548AJ2,PPARGC1A chr4 23227046 23227146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AJ2 chr4 23312420 23346787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 MIR548AJ2 chr4 23330763 23331083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 MIR548AJ2 chr4 23340779 23340879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AJ2 chr4 23345559 23666640 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-459K arrays 21546498 MIR548AJ2 chr4 23345819 23345919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AJ2 chr4 23370756 23370856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 MIR548AJ2 chr4 23402742 23500798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 MIR548AJ2 chr4 23402742 23500798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 MIR548AJ2 chr4 23469914 23567969 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 23482264 24084999 LOH Normal High-resolution SNP genotyping 21211785 PPARGC1A chr4 23490360 23490460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2359598 2601693 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 LOC402160,RNF4,ZFYVE28 chr4 23600000 124000000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 AASDH,ABCG2,ADAD1,ADAMTS3,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,AFF1,AFM,AFP,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC4,ANK2,ANKRD17,ANTXR2,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ATOH1,ATP10D,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BMP2K,BMP3,BMPR1B,BTC,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf3,C4orf32,C4orf34,C4orf36,C4orf40,C4orf52,CABS1,CAMK2D,CASP6,CCDC109B,CCDC149,CCDC158,CCKAR,CCNA2,CCNG2,CCNI,CDKL2,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLOCK,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,DANCR,DAPP1,DCAF4L1,DCK,DCUN1D4,DDIT4L,DHX15,DKK2,DMP1,DNAJB14,DSPP,DTHD1,EGF,EIF4E,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,EPGN,EPHA5,EREG,ERVMER34-1,EXOC1,EXOSC9,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM175A,FAM190A,FAM47E,FAM47E-STBD1,FDCSP,FGF2,FGF5,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FRAS1,FRYL,FTLP10,G3BP2,GABRA2,GABRA4,GABRB1,GABRG1,GAR1,GC,GDEP,GIMD1,GK2,GNPDA2,GNRHR,GPRIN3,GRID2,GRSF1,GRXCR1,GSTCD,GSX2,GUF1,H2AFZ,HADH,HELQ,HERC3,HERC5,HERC6,HNRNPD,HNRPDL,HOPX,HPGDS,HPSE,HSD17B11,HSD17B13,HSP90AB3P,HTN1,HTN3,IBSP,IGFBP7,IGJ,IL2,IL21,IL8,INTS12,KCTD8,KDR,KIAA1109,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,KLHL8,LAMTOR3,LARP7,LEF1,LEF1-AS1,LGI2,LIAS,LIMCH1,LIN54,LINC00575,LNX1,LNX1-AS1,LNX1-AS2,LOC100144602,LOC100505702,LOC100505875,LOC100506035,LOC100506746,LOC100507053,LOC152578,LOC255130,LOC256880,LOC285540,LOC344967,LOC401127,LOC401134,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC728040,LPHN3,LRIT3,LRRC66,MAD2L1,MANBA,MAPK10,MEPE,METAP1,METTL14,MIR1243,MIR1973,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,MIR3684,MIR4275,MIR4449,MIR4450,MIR4451,MIR4801,MIR4802,MIR5705,MIR573,MIR574,MIR575,MIR577,MMRN1,MOB1B,MRPL1,MRPS18C,MTHFD2L,MTTP,MUC7,MYOZ2,N4BP2,NAA11,NAAA,NAP1L5,NDNF,NDST3,NDST4,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX6-1,NMU,NOA1,NPFFR2,NPNT,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,OSTC,PAICS,PAPSS1,PAQR3,PARM1,PCDH7,PCNAP1,PDCL2,PDE5A,PDGFRA,PDHA2,PDLIM5,PDS5A,PF4,PF4V1,PGM2,PHOX2B,PI4K2B,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,POLR2B,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPM1K,PPP3CA,PRDM5,PRDM8,PRKG2,PROL1,PRSS12,PTPN13,PTTG2,PYURF,QRFPR,RAP1GDS1,RASGEF1B,RASL11B,RASSF6,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RHOH,RPL21P44,RPL34,RPL34-AS1,RPL9,RRH,RUFY3,SCARB2,SCD5,SCFD2,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SGCB,SGMS2,SHISA3,SHROOM3,SLAIN2,SLC10A4,SLC10A6,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC9B1,SLC9B2,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SOD3,SOWAHB,SPARCL1,SPATA18,SPATA5,SPINK2,SPP1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STPG2,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACR3,TBC1D1,TBC1D19,TBCK,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TLR1,TLR10,TLR6,TMEM150C,TMEM155,TMEM156,TMEM165,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP3,TRAM1L1,TRMT10A,TRPC3,TSPAN5,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP46,USP53,UTP3,WDFY3,WDFY3-AS2,WDR19,YIPF7,YTHDC1,ZAR1,ZCCHC4 chr4 23600000 151000000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 AASDH,ABCE1,ABCG2,ADAD1,ADAMTS3,ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,AFF1,AFM,AFP,AGPAT9,AGXT2L1,AIMP1,ALB,ALPK1,AMBN,AMTN,ANAPC10,ANAPC4,ANK2,ANKRD17,ANKRD50,ANTXR2,ANXA3,ANXA5,AP1AR,APBB2,ARAP2,AREG,ARHGAP10,ARHGAP24,ARHGEF38,ARHGEF38-IT1,ARL9,ARSJ,ART3,ATOH1,ATP10D,ATP8A1,BANK1,BBS12,BBS7,BDH2,BEND4,BMP2K,BMP3,BMPR1B,BTC,C4orf17,C4orf19,C4orf21,C4orf22,C4orf26,C4orf29,C4orf3,C4orf32,C4orf33,C4orf34,C4orf36,C4orf40,C4orf51,C4orf52,CABS1,CAMK2D,CASP6,CCDC109B,CCDC149,CCDC158,CCKAR,CCNA2,CCNG2,CCNI,CCRN4L,CDKL2,CDS1,CENPC1,CENPE,CEP135,CEP170P1,CETN4P,CFI,CHIC2,CHRNA9,CISD2,CLGN,CLOCK,CNGA1,CNOT6L,COL25A1,COMMD8,COPS4,COQ2,CORIN,COX18,COX7B2,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CWH43,CXCL1,CXCL10,CXCL11,CXCL13,CXCL2,CXCL3,CXCL5,CXCL6,CXCL9,CXXC4,CYP2U1,DANCR,DAPP1,DCAF4L1,DCK,DCLK2,DCUN1D4,DDIT4L,DHX15,DKK2,DMP1,DNAJB14,DSPP,DTHD1,EDNRA,EGF,EIF4E,ELF2,ELMOD2,ELOVL6,EMCN,EMCN-IT3,ENAM,ENOPH1,ENPEP,EPGN,EPHA5,EREG,ERVMER34-1,EXOC1,EXOSC9,FABP2,FAM114A1,FAM13A,FAM13A-AS1,FAM175A,FAM190A,FAM47E,FAM47E-STBD1,FAT4,FDCSP,FGF2,FGF5,FIP1L1,FLJ13197,FLJ14186,FLJ20021,FRAS1,FREM3,FRYL,FTLP10,G3BP2,GAB1,GABRA2,GABRA4,GABRB1,GABRG1,GAR1,GC,GDEP,GIMD1,GK2,GNPDA2,GNRHR,GPRIN3,GRID2,GRSF1,GRXCR1,GSTCD,GSX2,GUF1,GUSBP5,GYPA,GYPB,GYPE,H2AFZ,HADH,HELQ,HERC3,HERC5,HERC6,HHIP,HHIP-AS1,HNRNPD,HNRPDL,HOPX,HPGDS,HPSE,HSD17B11,HSD17B13,HSP90AB3P,HSPA4L,HTN1,HTN3,IBSP,IGFBP7,IGJ,IL15,IL2,IL21,IL8,INPP4B,INTS12,INTU,KCTD8,KDR,KIAA1109,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,KLHL8,LAMTOR3,LARP1B,LARP7,LEF1,LEF1-AS1,LGI2,LIAS,LIMCH1,LIN54,LINC00499,LINC00575,LINC00616,LNX1,LNX1-AS1,LNX1-AS2,LOC100129858,LOC100144602,LOC100505545,LOC100505702,LOC100505875,LOC100506035,LOC100506746,LOC100507053,LOC152578,LOC255130,LOC256880,LOC285419,LOC285540,LOC344967,LOC401127,LOC401134,LOC441025,LOC550112,LOC550113,LOC644145,LOC644248,LOC645513,LOC728040,LPHN3,LRIT3,LRRC66,LSM6,MAD2L1,MAML3,MANBA,MAPK10,MEPE,METAP1,METTL14,MFSD8,MGARP,MGST2,MIR1243,MIR1973,MIR2054,MIR302A,MIR302B,MIR302C,MIR302D,MIR367,MIR3684,MIR4275,MIR4449,MIR4450,MIR4451,MIR4799,MIR4801,MIR4802,MIR5705,MIR573,MIR574,MIR575,MIR577,MMAA,MMRN1,MOB1B,MRPL1,MRPS18C,MTHFD2L,MTTP,MUC7,MYOZ2,N4BP2,NAA11,NAA15,NAAA,NAP1L5,NDNF,NDST3,NDST4,NDUFC1,NEUROG2,NFKB1,NFXL1,NIPAL1,NKX6-1,NMU,NOA1,NPFFR2,NPNT,NR3C2,NSUN7,NUDT6,NUDT9,NUP54,OCIAD1,OCIAD2,ODAM,OSTC,OTUD4,PABPC4L,PAICS,PAPSS1,PAQR3,PARM1,PCDH10,PCDH18,PCDH7,PCNAP1,PDCL2,PDE5A,PDGFRA,PDHA2,PDLIM5,PDS5A,PF4,PF4V1,PGM2,PGRMC2,PHF17,PHOX2B,PI4K2B,PIGY,PITX2,PKD2,PLA2G12A,PLAC8,PLK4,POLR2B,POU4F2,PP12613,PPA2,PPARGC1A,PPAT,PPBP,PPBPP2,PPEF2,PPM1K,PPP3CA,PRDM5,PRDM8,PRKG2,PRMT10,PROL1,PRSS12,PTPN13,PTTG2,PYURF,QRFPR,RAB33B,RAP1GDS1,RASGEF1B,RASL11B,RASSF6,RBM47,RBPJ,RCHY1,RELL1,REST,RFC1,RHOH,RNF150,RPL21P44,RPL34,RPL34-AS1,RPL9,RRH,RUFY3,SCARB2,SCD5,SCFD2,SCLT1,SCOC,SDAD1,SEC24B,SEC24B-AS1,SEC24D,SEC31A,SEL1L3,SEPSECS,SEPT11,SETD7,SGCB,SGMS2,SHISA3,SHROOM3,SLAIN2,SLC10A4,SLC10A6,SLC10A7,SLC25A31,SLC30A9,SLC34A2,SLC39A8,SLC4A4,SLC7A11,SLC7A11-AS1,SLC9B1,SLC9B2,SMAD1,SMARCA5,SMARCAD1,SMR3A,SMR3B,SNCA,SNHG8,SNORA24,SNORA26,SOD3,SOWAHB,SPARCL1,SPATA18,SPATA5,SPINK2,SPP1,SPRY1,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STBD1,STIM2,STPG2,SULT1B1,SULT1E1,SYNPO2,SYT14L,TACR3,TBC1D1,TBC1D19,TBC1D9,TBCK,TEC,TECRL,TET2,THAP6,THAP9,THAP9-AS1,THEGL,TIFA,TIGD2,TLR1,TLR10,TLR6,TMEM150C,TMEM155,TMEM156,TMEM165,TMEM184C,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TNIP3,TRAM1L1,TRMT10A,TRPC3,TSPAN5,TTC29,TXK,UBA6,UBE2D3,UBE2K,UCHL1,UCP1,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,UGT8,UNC5C,USO1,USP38,USP46,USP53,UTP3,WDFY3,WDFY3-AS2,WDR19,YIPF7,YTHDC1,ZAR1,ZCCHC4,ZNF330,ZNF827 chr4 23630478 23729248 Copy number Lung cancer paired-end sequencing 18438408 NOT_FOUND chr4 2363368 2363442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ZFYVE28 chr4 2365901 2369900 Deletion Glioma mate-paired sequence 20126413 ZFYVE28 chr4 2367596 2368250 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 ZFYVE28 chr4 2367603 2368256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFYVE28 chr4 23737630 23737730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 23743354 72450824 Copy number Lung cancer paired-end sequencing 18438408 AASDH,AMBN,AMTN,ANAPC4,APBB2,ARAP2,ARL9,ATP10D,ATP8A1,BEND4,C4orf19,C4orf34,C4orf40,C4orf52,CABS1,CCDC149,CCKAR,CENPC1,CEP135,CHIC2,CHRNA9,CLOCK,CNGA1,COMMD8,CORIN,COX7B2,CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,CSN3,CWH43,DANCR,DCAF4L1,DCK,DCUN1D4,DHX15,DTHD1,ENAM,EPHA5,ERVMER34-1,EXOC1,FAM114A1,FDCSP,FIP1L1,FLJ13197,FRYL,FTLP10,GABRA2,GABRA4,GABRB1,GABRG1,GNPDA2,GNRHR,GRSF1,GRXCR1,GSX2,GUF1,HOPX,HTN1,HTN3,IGFBP7,IGJ,KCTD8,KDR,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,LGI2,LIAS,LIMCH1,LNX1,LNX1-AS1,LNX1-AS2,LOC100144602,LOC152578,LOC255130,LOC285540,LOC344967,LOC401127,LOC401134,LOC550112,LOC550113,LOC644145,LPHN3,LRRC66,MIR4275,MIR4449,MIR4801,MIR4802,MIR573,MIR574,MOB1B,MUC7,N4BP2,NFXL1,NIPAL1,NMU,NOA1,NSUN7,OCIAD1,OCIAD2,ODAM,PAICS,PCDH7,PDCL2,PDGFRA,PDS5A,PGM2,PHOX2B,PI4K2B,POLR2B,PPARGC1A,PPAT,PROL1,PTTG2,RASL11B,RBM47,RBPJ,RELL1,REST,RFC1,RHOH,RPL21P44,RPL9,RUFY3,SCFD2,SEL1L3,SEPSECS,SGCB,SHISA3,SLAIN2,SLC10A4,SLC30A9,SLC34A2,SLC4A4,SMR3A,SMR3B,SNORA26,SOD3,SPATA18,SPINK2,SRD5A3,SRD5A3-AS1,SRP72,STAP1,STATH,STIM2,SULT1B1,SULT1E1,SYT14L,TBC1D1,TBC1D19,TEC,TECRL,THEGL,TLR1,TLR10,TLR6,TMEM156,TMEM165,TMEM33,TMPRSS11A,TMPRSS11B,TMPRSS11BNL,TMPRSS11D,TMPRSS11E,TMPRSS11F,TMPRSS11GP,TXK,UBA6,UBE2K,UCHL1,UGDH,UGDH-AS1,UGT2A1,UGT2A2,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,USP46,UTP3,WDR19,YIPF7,YTHDC1,ZAR1,ZCCHC4 chr4 23796675 23830015 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPARGC1A chr4 23851789 23861557 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 PPARGC1A chr4 2386759 2387260 Loss or gain Normal 244K array 17666407 ZFYVE28 chr4 2387084 2388220 Loss Normal 244K array 17666407 ZFYVE28 chr4 23884834 23884934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PPARGC1A chr4 2390499 2400843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZFYVE28 chr4 23958580 23958680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2399178 3574290 LOH Normal High-resolution SNP genotyping 21211785 ADD1,DOK7,FAM193A,GRK4,HGFAC,HTT,HTT-AS1,LOC402160,LRPAP1,MFSD10,MSANTD1,NOP14,NOP14-AS1,RGS12,RNF4,SH3BP2,TNIP2,ZFYVE28 chr4 24031897 24032022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24102702 24103173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 24120721 24120865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 24130913 24131011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24138188 24195282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24138188 24195282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 2414387 2414554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ZFYVE28 chr4 24173914 24174181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24205370 24262446 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 24241085 24241352 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 2438038 2484808 Gain and loss Pancreatic cancer SNP array 17952125 LOC402160,RNF4 chr4 2440605 2487382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LOC402160,RNF4 chr4 2440605 2487382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LOC402160,RNF4 chr4 24406182 24411565 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr4 24406183 24411564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24406183 24411564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24409812 24409901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2441501 2758000 Copy number Normal ReadDepth: A Parallel R Package 21305028 FAM193A,LOC402160,RNF4,TNIP2 chr4 24417035 24417135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 24418912 24590924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 DHX15,MIR573 chr4 24418912 24590924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 DHX15,MIR573 chr4 24427328 24427428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 24452955 24453028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 24472324 24478733 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 24482702 24503414 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 24504850 24658095 Gain and loss Pancreatic cancer SNP array 17952125 DHX15,MIR573 chr4 24536136 24536236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 DHX15 chr4 24555613 24571736 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 DHX15 chr4 24575552 24576230 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 DHX15 chr4 24609569 24641413 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 24609569 24641413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24609569 24641413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24679659 24708584 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 24694749 24694849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 24695993 24696093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 24730734 24771162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24730734 24771162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 24731136 24789088 Loss Autism 1M Ailent CGH whole-genome array 21865298 NOT_FOUND chr4 24734413 24735810 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 NOT_FOUND chr4 24761240 24761340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2476643 2477177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RNF4 chr4 24798893 24838333 Gain and loss Pancreatic cancer SNP array 17952125 CCDC149,SOD3 chr4 24799906 24800006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SOD3 chr4 24802691 24803017 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 NOT_FOUND chr4 24805589 24850621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 CCDC149 chr4 2483257 2483357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RNF4 chr4 24844751 24889811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC149 chr4 24844751 24889811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC149 chr4 24850148 24850288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 CCDC149 chr4 24861265 24861454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC149 chr4 24911922 24956982 Gain and loss Pancreatic cancer SNP array 17952125 CCDC149 chr4 2491670 2491975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 RNF4 chr4 24923494 24981101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCDC149 chr4 24923494 24981101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCDC149 chr4 24928436 24928497 Gain and loss Pancreatic cancer SNP array 17952125 CCDC149 chr4 24928436 24928589 Gain and loss Pancreatic cancer SNP array 17952125 CCDC149 chr4 24949798 24949898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 CCDC149 chr4 24962384 25050952 Gain Stenocardia MACArray Karyo 22K BAC-chips 21860640 CCDC149,LGI2 chr4 24962384 25050952 Gain Vasospasm MACArray Karyo 22K BAC-chips 21860640 CCDC149,LGI2 chr4 24964000 25531050 Allelic imbalance Normal High-resolution SNP genotyping 21211785 ANAPC4,CCDC149,LGI2,LOC285540,PI4K2B,SEPSECS,ZCCHC4 chr4 24964000 25531050 Copy number gain Normal High-resolution SNP genotyping 21211785 ANAPC4,CCDC149,LGI2,LOC285540,PI4K2B,SEPSECS,ZCCHC4 chr4 2497583 2771485 Gain and loss Pancreatic cancer SNP array 17952125 FAM193A,RNF4,TNIP2 chr4 24987946 25029217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 LGI2 chr4 24987946 25029217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 LGI2 chr4 24990686 25048272 Gain and loss Pancreatic cancer SNP array 17952125 LGI2 chr4 2501 59000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF595,ZNF718 chr4 25033854 25033954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 25055117 25096388 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 25080226 25081690 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 25106249 25106561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 25118448 25118548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 25176634 25176734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 LOC285540 chr4 25189987 25190449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 LOC285540 chr4 25209000 25209053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 25234055 25234195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 25266532 25289466 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 PI4K2B chr4 25266533 25289464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PI4K2B chr4 25266533 25289464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PI4K2B chr4 25299789 25340087 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 ZCCHC4 chr4 25301226 25301366 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 25328670 25328727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC4 chr4 25328729 25328797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC4 chr4 25330751 25330817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC4 chr4 25331164 25331231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ZCCHC4 chr4 25333735 25354773 Gain and loss Pancreatic cancer SNP array 17952125 ZCCHC4 chr4 25358148 25474232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ANAPC4,ZCCHC4 chr4 25358148 25474232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ANAPC4,ZCCHC4 chr4 25380600 25380700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 ANAPC4 chr4 253958 254238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 25395841 25395898 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC4 chr4 25395900 25395968 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC4 chr4 25397922 25397988 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC4 chr4 25398335 25398402 Gain and loss Pancreatic cancer SNP array 17952125 ANAPC4 chr4 25421795 26907120 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C4orf52,CCKAR,RBPJ,SEL1L3,SLC34A2,STIM2,TBC1D19 chr4 25425319 25540713 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 254554 255716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 254978 482891 Gain and loss Pancreatic cancer SNP array 17952125 ABCA11P,ZNF141,ZNF721,ZNF732 chr4 25524911 25540598 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 NOT_FOUND chr4 25524917 25540531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 25524917 25540531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 255765 255927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 25592088 25607702 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 2567235 40057476 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 ABLIM2,ACOX3,ADD1,ADRA2C,AFAP1,AFAP1-AS1,ANAPC4,ARAP2,BLOC1S4,BOD1L1,BST1,C1QTNF7,C4orf19,C4orf34,C4orf52,C4orf6,CC2D2A,CCDC149,CCDC96,CCKAR,CD38,CLNK,CLRN2,CPEB2,CPZ,CRMP1,CYTL1,DCAF16,DEFB131,DHX15,DOK7,DRD5,DTHD1,EVC,EVC2,FAM114A1,FAM184B,FAM193A,FAM200B,FAM86EP,FBXL5,FGFBP1,FGFBP2,FLJ13197,FLJ35424,FLJ36777,FLJ39653,GBA3,GPR125,GPR78,GRK4,GRPEL1,HGFAC,HMX1,HS3ST1,HSP90AB2P,HTRA3,HTT,HTT-AS1,JAKMIP1,KCNIP4,KCNIP4-IT1,KIAA0232,KIAA1239,KLB,KLF3,KLHL5,LAP3,LCORL,LDB2,LGI2,LIAS,LOC100129931,LOC100133461,LOC100287144,LOC100287178,LOC100287205,LOC100287238,LOC100287327,LOC100287364,LOC100287404,LOC100287441,LOC100287478,LOC100287513,LOC100288520,LOC100505912,LOC100507266,LOC152742,LOC285484,LOC285540,LOC285547,LOC285548,LOC344967,LOC401127,LOC441009,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,LOC728419,LOC93622,LRPAP1,LYAR,MAN2B2,MED28,MFSD10,MIR218-1,MIR3138,MIR378D1,MIR4274,MIR4275,MIR4798,MIR4801,MIR5091,MIR548AJ2,MIR548AX,MIR548I2,MIR572,MIR573,MIR574,MRFAP1,MRFAP1L1,MSANTD1,MSX1,NCAPG,NKX3-2,NOP14,NOP14-AS1,NSG1,OTOP1,PACRGL,PCDH7,PDS5A,PGM2,PI4K2B,PPARGC1A,PPP2R2C,PROM1,PSAPL1,PTTG2,QDPR,RAB28,RBPJ,RELL1,RFC1,RGS12,RPL9,S100P,SEL1L3,SEPSECS,SH3BP2,SH3TC1,SLC2A9,SLC34A2,SLIT2,SLIT2-IT1,SOD3,SORCS2,STIM2,STK32B,STX18,TADA2B,TAPT1,TBC1D1,TBC1D14,TBC1D19,TLR1,TLR10,TLR6,TMEM128,TMEM156,TNIP2,TRMT44,UBE2K,UGDH,UGDH-AS1,USP17,USP17L5,USP17L6P,WDR1,WDR19,WFS1,ZBTB49,ZCCHC4,ZNF518B chr4 2567812 2704100 Microdeletion Wolf-Hirschhorn syndrome FISH 22438245 FAM193A chr4 25687527 26246047 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 C4orf52,SEL1L3 chr4 2571700 2571800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 25723858 25723958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 25724946 25724978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2586649 2586749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 25874096 25903395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 25899566 25904483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 25930429 26042376 Gain or loss Breast cancer - 20668451 C4orf52 chr4 25930429 26042376 Gain or loss Cancer - 20668451 C4orf52 chr4 25930429 26042376 Gain or loss Lung cancer - 20668451 C4orf52 chr4 25930429 26042376 Gain or loss Ovarian cancer - 20668451 C4orf52 chr4 25930429 26042376 Gain or loss Pancreas cancer - 20668451 C4orf52 chr4 25930429 26042376 Gain or loss Prostate cancer - 20668451 C4orf52 chr4 25930430 26045851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 C4orf52 chr4 25930430 26045851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 C4orf52 chr4 25953082 25953180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2595661 2595726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2596957 2704097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM193A chr4 2596957 2704097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM193A chr4 2597168 2597268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 25997601 26109547 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 26034375 26034475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 26050337 26050422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 26051864 26063264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 26064769 26071049 Loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 26092115 26101140 Copy number Lung cancer - 20668451 NOT_FOUND chr4 26092115 26101140 Gain or loss Breast cancer - 20668451 NOT_FOUND chr4 26092115 26101140 Gain or loss Cancer - 20668451 NOT_FOUND chr4 26092115 26101140 Gain or loss Lung cancer - 20668451 NOT_FOUND chr4 26092115 26101140 Gain or loss Ovarian cancer - 20668451 NOT_FOUND chr4 26092115 26101140 Gain or loss Pancreas cancer - 20668451 NOT_FOUND chr4 26092115 26101140 Gain or loss Prostate cancer - 20668451 NOT_FOUND chr4 26092116 26101140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 26092116 26101140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 26115291 26115900 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 NOT_FOUND chr4 26122575 26122660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 26137425 26137586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 26159287 26168311 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 261751 344051 Loss Normal Birdsuite, version 1.5.2 22087296 ZNF141,ZNF732 chr4 26194644 26366013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 RBPJ chr4 26194644 26366013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 RBPJ chr4 26248802 26249154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 26261975 26433071 Gain and loss Pancreatic cancer SNP array 17952125 RBPJ chr4 26313029 26313108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 26337927 26338027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 RBPJ chr4 26380200 26380279 Gain and loss Pancreatic cancer SNP array 17952125 RBPJ chr4 26380205 26380273 Gain and loss Pancreatic cancer SNP array 17952125 RBPJ chr4 2643669 2643669 Copy number Prostate cancer Illumina GA II sequencer 21307934 FAM193A chr4 26438470 26438613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 26438619 26438796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 26438624 26438724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 26471461 26634907 Copy number Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 CCKAR,TBC1D19 chr4 26471561 26636101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 CCKAR,TBC1D19 chr4 26471561 26636101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 CCKAR,TBC1D19 chr4 2651980 2652074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 FAM193A chr4 26538580 26703272 Gain and loss Pancreatic cancer SNP array 17952125 TBC1D19 chr4 2654039 2654137 Gain and loss Pancreatic cancer SNP array 17952125 FAM193A chr4 26565050 26566549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 26617045 26617088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D19 chr4 26654414 29814479 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4275,STIM2,TBC1D19 chr4 26713996 26714096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TBC1D19 chr4 26732641 26778043 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 TBC1D19 chr4 26801078 26846119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 26818225 26829124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 26818225 26829124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 26834040 26834147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 26869792 27134974 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-449K arrays 21546498 STIM2 chr4 26872307 27134974 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-447K arrays 21546498 STIM2 chr4 26883925 26969030 Gain Stenocardia MACArray Karyo 21K BAC-chips 21860640 STIM2 chr4 26883925 26969030 Gain Vasospasm MACArray Karyo 21K BAC-chips 21860640 STIM2 chr4 26901213 26901318 Gain and loss Pancreatic cancer SNP array 17952125 STIM2 chr4 26901217 26901318 Gain and loss Pancreatic cancer SNP array 17952125 STIM2 chr4 26947048 26963377 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 STIM2 chr4 26974225 26996671 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 STIM2 chr4 26982151 26996671 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 STIM2 chr4 26982600 27400682 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 STIM2 chr4 27029781 27029881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2704290 2747426 Duplication Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V9 BeadChip 22016809 FAM193A,TNIP2 chr4 2713184 2727859 Microdeletion Wolf-Hirschhorn syndrome FISH 22438245 FAM193A chr4 2713190 2727891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 FAM193A chr4 2713190 2727891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 FAM193A chr4 27152990 27153053 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 27156930 27157030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27174299 28441740 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 27195037 27195122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27244998 27245090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 27278479 27290902 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 27280711 27290902 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 2729092 2810076 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 FAM193A,SH3BP2,TNIP2 chr4 27323730 27323830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27357065 27357155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27434876 27434961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27441666 27567756 Copy number gain Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 27496084 27496184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2750594 3460066 LOH Normal High-resolution SNP genotyping 21211785 ADD1,GRK4,HGFAC,HTT,HTT-AS1,MFSD10,MSANTD1,NOP14,NOP14-AS1,RGS12,SH3BP2,TNIP2 chr4 27511665 27511765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27514531 28025233 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 27532250 27564625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 27567756 28536942 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 2757305 2757389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 TNIP2 chr4 2758001 2809500 Copy number Normal ReadDepth: A Parallel R Package 21305028 SH3BP2,TNIP2 chr4 27580792 28536942 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 27590924 27635743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 2762694 2762794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2764547 2812621 Microdeletion Wolf-Hirschhorn syndrome FISH 22438245 SH3BP2 chr4 2764548 2810712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 SH3BP2 chr4 2764548 2810712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 SH3BP2 chr4 27688208 27688308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27691683 27691715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27700000 44600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 APBB2,ARAP2,ATP8A1,BEND4,C4orf19,C4orf34,CHRNA9,DCAF4L1,DTHD1,FAM114A1,FLJ13197,GRXCR1,KCTD8,KIAA1239,KLB,KLF3,KLHL5,LIAS,LIMCH1,LOC344967,LOC401127,MIR4275,MIR4801,MIR4802,MIR574,N4BP2,NSUN7,PCDH7,PDS5A,PGM2,PHOX2B,PTTG2,RBM47,RELL1,RFC1,RHOH,RPL9,SHISA3,SLC30A9,TBC1D1,TLR1,TLR10,TLR6,TMEM156,TMEM33,UBE2K,UCHL1,UGDH,UGDH-AS1,WDR19 chr4 27700000 44600000 Gain Prostate cancer Array CGH 16573809 APBB2,ARAP2,ATP8A1,BEND4,C4orf19,C4orf34,CHRNA9,DCAF4L1,DTHD1,FAM114A1,FLJ13197,GRXCR1,KCTD8,KIAA1239,KLB,KLF3,KLHL5,LIAS,LIMCH1,LOC344967,LOC401127,MIR4275,MIR4801,MIR4802,MIR574,N4BP2,NSUN7,PCDH7,PDS5A,PGM2,PHOX2B,PTTG2,RBM47,RELL1,RFC1,RHOH,RPL9,SHISA3,SLC30A9,TBC1D1,TLR1,TLR10,TLR6,TMEM156,TMEM33,UBE2K,UCHL1,UGDH,UGDH-AS1,WDR19 chr4 2780599 2795309 Gain and loss Pancreatic cancer SNP array 17952125 SH3BP2 chr4 2780639 2852637 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 ADD1,SH3BP2 chr4 27858540 27858629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 2787190 3302513 LOH Normal High-resolution SNP genotyping 21211785 ADD1,GRK4,HTT,HTT-AS1,MFSD10,MSANTD1,NOP14,NOP14-AS1,SH3BP2 chr4 2788368 2788468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 27900000 35500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR4275,PCDH7 chr4 27900000 35500000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 MIR4275,PCDH7 chr4 27900000 35500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 MIR4275,PCDH7 chr4 27900000 45600000 Gain Prostate cancer Array CGH 16573809 APBB2,ARAP2,ATP8A1,BEND4,C4orf19,C4orf34,CHRNA9,DCAF4L1,DTHD1,FAM114A1,FLJ13197,GNPDA2,GRXCR1,GUF1,KCTD8,KIAA1239,KLB,KLF3,KLHL5,LIAS,LIMCH1,LOC344967,LOC401127,MIR4275,MIR4801,MIR4802,MIR574,N4BP2,NSUN7,PCDH7,PDS5A,PGM2,PHOX2B,PTTG2,RBM47,RELL1,RFC1,RHOH,RPL9,SHISA3,SLC30A9,TBC1D1,TLR1,TLR10,TLR6,TMEM156,TMEM33,UBE2K,UCHL1,UGDH,UGDH-AS1,WDR19,YIPF7 chr4 28028903 30613014 Loss Prostate cancer Array CGH 18632612 MIR4275 chr4 28030689 28031038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 28058051 28175610 Gain Stenocardia MACArray Karyo 20K BAC-chips 21860640 NOT_FOUND chr4 28058051 28175610 Gain Vasospasm MACArray Karyo 20K BAC-chips 21860640 NOT_FOUND chr4 28066434 29997149 LOH Normal High-resolution SNP genotyping 21211785 MIR4275 chr4 28106888 28106973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2811079 2811179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 SH3BP2 chr4 28121080 28122300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 2813209 2813381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 SH3BP2 chr4 2815381 2901587 Microdeletion Wolf-Hirschhorn syndrome FISH 22438245 ADD1,SH3BP2 chr4 2815382 2901601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADD1,SH3BP2 chr4 2815382 2901601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADD1,SH3BP2 chr4 28173385 28173708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 28220227 28515706 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 28222570 28222668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28228527 28940215 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 MIR4275 chr4 2831959 2877920 Gain and loss Pancreatic cancer SNP array 17952125 ADD1,SH3BP2 chr4 28320605 28320766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28320752 28320951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28321919 28322155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 28389090 28389326 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 28404725 28404825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28434015 28434894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 28440700 28440790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28525690 28525784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28536942 29830033 Copy number gain Normal High-resolution SNP genotyping 21211785 MIR4275 chr4 28553055 28561902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 28559889 28559989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28597846 29314355 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 MIR4275 chr4 28613492 28613577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28621691 28621791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28647510 29578483 LOH Normal High-resolution SNP genotyping 21211785 MIR4275 chr4 28654426 28654526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28675055 29578483 LOH Normal High-resolution SNP genotyping 21211785 MIR4275 chr4 28697036 28697118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28736867 29314534 LOH Normal High-resolution SNP genotyping 21211785 MIR4275 chr4 28782797 28782855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 28791301 28811692 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 NOT_FOUND chr4 28792116 28792216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 288001 289500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ZNF732 chr4 2882590 2968794 Gain and loss Pancreatic cancer SNP array 17952125 ADD1,GRK4,MFSD10,NOP14,NOP14-AS1 chr4 28835668 28843060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 28840573 28840669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28861809 28861909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28893270 28919375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 28895502 28901280 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 28901280 28903972 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 28903972 28907251 Gain or loss Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 28922511 28922571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 28933969 28934052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2894001 2915000 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADD1 chr4 29000000 62000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 AASDH,APBB2,ARAP2,ARL9,ATP10D,ATP8A1,BEND4,C4orf19,C4orf34,CEP135,CHIC2,CHRNA9,CLOCK,CNGA1,COMMD8,CORIN,COX7B2,CWH43,DANCR,DCAF4L1,DCUN1D4,DTHD1,ERVMER34-1,EXOC1,FAM114A1,FIP1L1,FLJ13197,FRYL,GABRA2,GABRA4,GABRB1,GABRG1,GNPDA2,GRXCR1,GSX2,GUF1,HOPX,IGFBP7,KCTD8,KDR,KIAA1211,KIAA1239,KIT,KLB,KLF3,KLHL5,LIAS,LIMCH1,LNX1,LNX1-AS1,LNX1-AS2,LOC152578,LOC255130,LOC344967,LOC401127,LOC644145,LRRC66,MIR4449,MIR4801,MIR4802,MIR574,N4BP2,NFXL1,NIPAL1,NMU,NOA1,NSUN7,OCIAD1,OCIAD2,PAICS,PCDH7,PDCL2,PDGFRA,PDS5A,PGM2,PHOX2B,POLR2B,PPAT,PTTG2,RASL11B,RBM47,RELL1,REST,RFC1,RHOH,RPL21P44,RPL9,SCFD2,SGCB,SHISA3,SLAIN2,SLC10A4,SLC30A9,SNORA26,SPATA18,SPINK2,SRD5A3,SRD5A3-AS1,SRP72,TBC1D1,TEC,THEGL,TLR1,TLR10,TLR6,TMEM156,TMEM165,TMEM33,TXK,UBE2K,UCHL1,UGDH,UGDH-AS1,USP46,WDR19,YIPF7,ZAR1 chr4 29020000 35610000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 PCDH7 chr4 2902092 2906359 Microdeletion Wolf-Hirschhorn syndrome FISH 22438245 ADD1 chr4 2902093 2906313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADD1 chr4 2902093 2906313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADD1 chr4 2909461 2934916 Microdeletion Wolf-Hirschhorn syndrome FISH 22438245 ADD1,MFSD10 chr4 2909464 2934916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 ADD1,MFSD10 chr4 2909464 2934916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 ADD1,MFSD10 chr4 29104176 29217491 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 NOT_FOUND chr4 29121358 29121457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 2912481 2912633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 ADD1 chr4 29127833 29127933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2915001 3044500 Copy number Normal ReadDepth: A Parallel R Package 21305028 ADD1,GRK4,MFSD10,NOP14,NOP14-AS1 chr4 29152817 29152876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 29159382 29309515 Gain Normal Birdsuite, version 1.5.2 22087296 NOT_FOUND chr4 29188529 29188628 Gain and loss Pancreatic cancer SNP array 17952125 NOT_FOUND chr4 29199911 29367346 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 29211949 29814479 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 NOT_FOUND chr4 29270208 29270535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 2935096 3012270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 GRK4,MFSD10,NOP14,NOP14-AS1 chr4 2935096 3012270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRK4,MFSD10,NOP14,NOP14-AS1 chr4 2935140 3012272 Microdeletion Wolf-Hirschhorn syndrome FISH 22438245 GRK4,MFSD10,NOP14,NOP14-AS1 chr4 29360916 29361030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 NOT_FOUND chr4 29369749 30716664 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 29389086 29389184 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 29400618 29400718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2943763 2943861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOP14,NOP14-AS1 chr4 29483501 29532326 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 NOT_FOUND chr4 2965943 2966008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRK4 chr4 29666629 29666990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 2969298 2973520 Gain and loss Pancreatic cancer SNP array 17952125 GRK4 chr4 29736858 29737170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 29761695 29761845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2976674 3002100 Gain and loss Pancreatic cancer SNP array 17952125 GRK4 chr4 2977150 2977249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 GRK4 chr4 29805053 29963713 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 2988022 2988189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 GRK4 chr4 29889006 29889417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 29907854 29907954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 2994521 3005429 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 GRK4 chr4 29961339 30093505 Gain Stenocardia MACArray Karyo 19K BAC-chips 21860640 NOT_FOUND chr4 29961339 30093505 Gain Vasospasm MACArray Karyo 19K BAC-chips 21860640 NOT_FOUND chr4 29981540 29981610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 3002352 3079477 Gain and loss Pancreatic cancer SNP array 17952125 GRK4,HTT,HTT-AS1 chr4 30023761 30023861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 30043414 30043446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 30096030 30096125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 30117306 31595934 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH7 chr4 30117306 31661732 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 PCDH7 chr4 3015626 3015732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 GRK4 chr4 30228201 30259950 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 30260105 35838212 Copy number gain Normal High-resolution SNP genotyping 21211785 PCDH7 chr4 30292345 30292533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 30310799 30310898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 30328001 30334000 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 30331135 30753569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 PCDH7 chr4 30331135 30753569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH7 chr4 30387161 30472506 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 30398306 30820740 Gain and loss Pancreatic cancer SNP array 17952125 PCDH7 chr4 30436498 30436598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 3044501 3046500 Copy number Normal ReadDepth: A Parallel R Package 21305028 NOT_FOUND chr4 3046206 3215485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 HTT,HTT-AS1 chr4 30491911 30515053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 30494354 30527752 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 30497043 30497193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 30531808 30565653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 30541944 30612734 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 NOT_FOUND chr4 30585857 30738850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 PCDH7 chr4 30623046 30624070 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 NOT_FOUND chr4 30654634 30654734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 30671798 30671878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 30719791 30719891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 30786163 31796890 LOH Normal High-resolution SNP genotyping 21211785 PCDH7 chr4 30814914 30815232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH7 chr4 30827578 30827663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 3082833 3082934 Gain and loss Pancreatic cancer SNP array 17952125 HTT chr4 3082837 3082935 Gain and loss Pancreatic cancer SNP array 17952125 HTT chr4 30868548 30868627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 30878809 30878904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 30891910 30892077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 30892068 30892132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 30947586 30947784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH7 chr4 30954141 30954225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 30964272 30964359 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH7 chr4 30972736 30972809 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH7 chr4 30986148 30986248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 3100000 5200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADRA2C,CYTL1,DOK7,FAM86EP,FLJ35424,HGFAC,HTT,LOC100133461,LOC100507266,LRPAP1,LYAR,MSANTD1,MSX1,NSG1,OTOP1,RGS12,STK32B,STX18,TMEM128,ZBTB49 chr4 3100000 5200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 ADRA2C,CYTL1,DOK7,FAM86EP,FLJ35424,HGFAC,HTT,LOC100133461,LOC100507266,LRPAP1,LYAR,MSANTD1,MSX1,NSG1,OTOP1,RGS12,STK32B,STX18,TMEM128,ZBTB49 chr4 3100000 5200000 Gain Schizophrenia Affymetrix 6.0 array 21399695 ADRA2C,CYTL1,DOK7,FAM86EP,FLJ35424,HGFAC,HTT,LOC100133461,LOC100507266,LRPAP1,LYAR,MSANTD1,MSX1,NSG1,OTOP1,RGS12,STK32B,STX18,TMEM128,ZBTB49 chr4 31015776 31016102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH7 chr4 31031957 31032057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 31063804 31063904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 31072609 31078630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH7 chr4 31101962 31102398 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 PCDH7 chr4 31102127 31102226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 31122396 31122496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 PCDH7 chr4 3113412 3282656 Gain and loss Pancreatic cancer SNP array 17952125 HTT,MSANTD1 chr4 31228041 31262450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 NOT_FOUND chr4 31264771 31264856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 NOT_FOUND chr4 3127987 3866801 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 ADRA2C,DOK7,FLJ35424,HGFAC,HTT,LOC100133461,LRPAP1,MSANTD1,RGS12 chr4 31291394 31478210 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 NOT_FOUND chr4 31380022 31980049 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 31387907 31980049 LOH Normal High-resolution SNP genotyping 21211785 NOT_FOUND chr4 31558127 31560205 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 NOT_FOUND chr- 43156000 52756000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr4 31565662 31565757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 31630286 31630386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 31651184 34025113 LOH Normal High-resolution SNP genotyping 21211785 chr4 31709771 31718408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 31781624 31782829 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 31800000 170400000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr4 31800000 76500000 Loss Glioblastoma multiforme conventional CGH 21080181 chr4 31800000 82600000 Loss Glioblastoma multiforme aCGH 21080181 chr4 31825250 32247093 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 31825250 33456857 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 31841268 31841418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 31841324 31841426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 31841456 31841541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 31841522 31841601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 31881957 31881989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3196501 3230000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 31976504 31976584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 32034816 32034916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32042515 32042615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 320501 323000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 32122898 32126696 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 32122898 32126696 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 321622 359047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 321622 359047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 32162285 32163958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 32190399 32361018 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 3220565 3243263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 3220565 3243263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 32225776 32825938 LOH Normal High-resolution SNP genotyping 21211785 chr4 32254386 32254476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32270123 32897021 LOH Normal High-resolution SNP genotyping 21211785 chr4 32275345 34398235 LOH Normal High-resolution SNP genotyping 21211785 chr4 3230001 3384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 32345780 34545468 LOH Normal High-resolution SNP genotyping 21211785 chr4 32345780 34547347 LOH Normal High-resolution SNP genotyping 21211785 chr4 32377905 34706115 LOH Normal High-resolution SNP genotyping 21211785 chr4 32418953 33463430 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr4 32464254 32464354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32563834 32563934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32579980 32580070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32592422 32592497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32616080 32616180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3262524 3262607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32626294 34459258 LOH Normal High-resolution SNP genotyping 21211785 chr4 32651595 34500355 LOH Normal High-resolution SNP genotyping 21211785 chr4 32651595 34503721 LOH Normal High-resolution SNP genotyping 21211785 chr4 32672867 33681780 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 32680099 32680199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3273890 38890474 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr4 32742883 34547347 LOH Normal High-resolution SNP genotyping 21211785 chr4 32752286 32796957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 327570 359047 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3285672 3411436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 3285672 3411436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 32876676 34208434 LOH Normal High-resolution SNP genotyping 21211785 chr4 3287919 3294983 Gain and loss Pancreatic cancer SNP array 17952125 chr4 32879472 34781314 LOH Normal High-resolution SNP genotyping 21211785 chr4 32893409 32893509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32904330 32948840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 3290 6700 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 32919001 32920000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 32937748 32937848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 32983465 34459258 LOH Normal High-resolution SNP genotyping 21211785 chr4 32983465 34503721 LOH Normal High-resolution SNP genotyping 21211785 chr4 32983465 35369195 LOH Normal High-resolution SNP genotyping 21211785 chr4 32994477 33055138 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr4 33037172 33037272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33054618 33062864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 33055378 34833007 LOH Normal High-resolution SNP genotyping 21211785 chr4 33055519 33062569 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 33055531 33062581 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 33063730 33063830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33065174 33065274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33116320 33116398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33149800 33150138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 33257 42390 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 33289447 33303000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 3335124 110560125 Deletion Intellectual disability Array CGH 22102821 chr4 3337746 3531027 Copy number Normal Quantitative Real-Time PCR 17666543 chr4 33382830 46287466 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-453K arrays 21546498 chr4 333946 334041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 33403155 33403252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3342142 3342222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33522422 33522733 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 33523560 33524616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 33526079 33529034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3354764 3478607 Gain and loss Pancreatic cancer SNP array 17952125 chr4 33556985 33557030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33709894 33709974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33795448 33795548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33805 39018 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3384001 3403000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 3391659 3391759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33919103 33919202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 33944633 33944728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3400000 17340000 Loss Breast cancer aCGH 21509527 chr4 3403001 3422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 34040560 34297097 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 34049 240916 Gain Normal 244K array 17666407 chr4 3406614 3619620 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr4 34066196 34101189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 34078634 35656022 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 34078634 36007168 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 34100000 84300000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 chr4 34100879 34936314 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr4 34124335 34124435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3413447 3421020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 3413447 3421020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3414128 3414225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 34208012 34208345 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3421650 3447979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 3422001 3432500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 34221944 34222054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 34249794 34249868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3429849 3429928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3431313 3610714 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 3431313 4469058 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 3432501 3477500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 3433250 3439240 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 34341001 34342500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 3434831 3472350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 3434831 3472350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 34360003 34365018 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 34364895 34364995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3439241 3443437 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 3439241 3482287 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 34414461 34414561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 34418775 34525462 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chr4 34428904 34528519 Copy number Normal Birdsuite, version 1.5.2 22087296 chr4 3443437 3482287 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 34441205 34501108 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34441547 34497723 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34441990 34501108 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34446689 34471855 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34453144 34503721 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 3445407 3445462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 34455243 34495153 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34455243 34501108 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34455255 34455420 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 34455420 34500578 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 34455420 34500578 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 34455438 34506254 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 34455438 34506254 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 34456706 34504926 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 34459258 34500355 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 34459258 34500355 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 34459258 34503721 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 34459258 34503721 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 34459258 34506847 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 34459337 34779109 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 34462883 34492454 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34462883 34497723 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34462883 34501108 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 34462883 34501108 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34462883 34501108 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34462883 34506387 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34462895 34506344 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 34463338 34501108 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34465025 34503721 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 34465025 34503721 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 34469747 34499424 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr4 34500578 34508213 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 34503721 35351628 LOH Normal High-resolution SNP genotyping 21211785 chr4 34505482 34550155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 34508213 34508262 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 34508262 34528519 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 3454603 3454693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3454606 3454737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3454672 3454803 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 34566714 34653695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 34577405 64962104 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 34583598 34666499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 34584805 34604916 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34584805 34609602 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 34600082 34653700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 34603601 34649354 Loss Normal 244K array 17666407 chr4 34608481 34779109 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 34632995 34634554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 34643755 34928990 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr4 34644258 34644361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 34645542 34709729 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 3465950 3466009 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr4 34696535 34696635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 34709729 37067146 LOH Normal High-resolution SNP genotyping 21211785 chr4 34727638 34727738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3476499 3521842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 3477501 3672500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 34776545 34810513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 34790429 34790532 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3480695 3488182 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3484093 3503947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 3484093 3503947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 34892081 34892181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 34914901 34922700 Deletion Glioma mate-paired sequence 20126413 chr4 34916651 34920821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3492783 3526419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 34932791 35008974 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 34948447 34948547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 34950497 34950591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35008974 35994362 LOH Normal High-resolution SNP genotyping 21211785 chr4 3502007 3540169 Gain and loss Pancreatic cancer SNP array 17952125 chr4 35032240 35032340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3504033 3512570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 35067070 35087926 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 35120721 35149445 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 35125470 35125772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 35171722 35173290 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 35171727 35173290 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 35173915 35174020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 35183950 35197978 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 3520885 3520928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35261386 35261486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35320086 35320191 Gain and loss Pancreatic cancer SNP array 17952125 chr4 35352553 35352628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35361725 35362223 Loss Normal 244K array 17666407 chr4 35373415 35376106 Gain Normal 244K array 17666407 chr4 35398996 35399324 Loss Normal 244K array 17666407 chr4 35408950 35439646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 3542001 3617900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 3543828 3544364 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3546264 3546371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3548394 3562510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 3548394 3562510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 35500000 40900000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr4 35500000 40900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 35500000 40900000 Loss Breast cancer aCGH 21045282 chr4 3551264 3571118 Gain and loss Pancreatic cancer SNP array 17952125 chr4 35524746 35527802 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 35526251 35526322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 35560879 35561350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3556211 3601098 Copy number Lung cancer paired-end sequencing 18438408 chr4 35583406 35583480 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr4 35587814 35821244 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 3561181 3608676 Copy number Lung cancer paired-end sequencing 18438408 chr4 3563295 3563370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 35696920 35697672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 35698972 35699062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35744016 35922374 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 35744017 35922374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 35744017 35922374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3576740 3577114 Gain and loss Pancreatic cancer SNP array 17952125 chr4 35769938 35769938 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr4 35782722 35828015 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 chr4 35786757 35786857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35795062 35795151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35800000 41200000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 chr4 35800000 41200000 Loss Esophageal squamous carcinoma Array CGH 17470683 chr4 35800000 48200000 Gain and amplification Multiple myeloma Array CGH 16616336 chr4 3581427 3581566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3583172 3588416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 35875501 35877000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 35890188 36068545 Gain and loss Pancreatic cancer SNP array 17952125 chr4 35920480 35920580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35929933 35929979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 35933548 35978657 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 35959639 36021811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 35959639 36021811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 35963509 37238678 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 36017495 36017595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 36073680 36093574 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 36077157 36087860 Gain and loss Pancreatic cancer SNP array 17952125 chr4 36080721 36097457 Gain and loss Pancreatic cancer SNP array 17952125 chr4 36105810 36167982 Gain and loss Pancreatic cancer SNP array 17952125 chr4 36115117 36144418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 36133208 36607819 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 36142655 36142729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 36146300 36146632 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3615501 23616444 Copy number Lung cancer paired-end sequencing 18438408 chr4 3615565 3629681 Gain and loss Pancreatic cancer SNP array 17952125 chr4 36161603 36161703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3623901 48334144 Copy number Lung cancer paired-end sequencing 18438408 chr4 3628632 3628732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 36325192 36325292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 36325215 36325402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 36328961 36329071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 36348190 36350204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 36457010 36457332 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 36489387 37268981 LOH Normal High-resolution SNP genotyping 21211785 chr4 36519142 36519484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 36702388 36702427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3672501 3852000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 36753979 36754052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 36761383 36761452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 36797244 37238678 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 36845596 36845628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3684729 3684821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 36850339 36864652 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 36850339 36865867 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 36851173 36865867 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 36900000 114100000 Gain Hepatocellular carcinoma Array CGH 16750200 chr4 36900000 114100000 Loss Myxofibrosarcoma Array CGH 16751306 chr4 36900000 88200000 Amplification Normal - 21483804 chr4 36900000 88200000 Duplication or triplication Parkinson disease References 21956041 chr4 36900000 88200000 Microdeletion delayed speech array-CGH 20522426 chr4 36900000 88200000 Microdeletion growth disorder array-CGH 20522426 chr4 36900000 88200000 Microdeletion Mental retardation array-CGH 20522426 chr4 36921501 36924000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 36923121 37117422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 36923121 37117422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3693117 3693182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37114125 37146497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 37121738 37127479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 37121738 37127479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3712610 3712710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3712922 3713022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37131993 37269843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 37131993 37269843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37138986 37140175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 37159476 37159533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 37180617 37263584 Gain and loss Pancreatic cancer SNP array 17952125 chr4 37195013 37195113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 372128 95973863 Loss or gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr4 37219020 38856812 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 37227512 37227612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37231036 37231432 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 37262249 37271527 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 37267909 37273650 Gain and loss Pancreatic cancer SNP array 17952125 chr4 37268817 37364394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37278164 37416014 Gain and loss Pancreatic cancer SNP array 17952125 chr4 37280365 37280448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3728278 3728332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37328286 37328386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37377912 37378019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3737872 3740051 Gain or loss Breast cancer - 20668451 chr4 3737872 3740051 Gain or loss Cancer - 20668451 chr4 3737872 3740051 Gain or loss Lung cancer - 20668451 chr4 3737872 3740051 Gain or loss Ovarian cancer - 20668451 chr4 3737872 3740051 Gain or loss Pancreas cancer - 20668451 chr4 3737872 3740051 Gain or loss Prostate cancer - 20668451 chr4 3738094 3740051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 3738094 3740051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37401846 37415697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 37414988 37510563 Gain and loss Pancreatic cancer SNP array 17952125 chr4 37415994 37416045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 37435648 38104297 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 37442678 37443005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 37480814 37480914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37492128 40419665 Loss Neuroblastoma aCGH 20406844 chr4 37492161 37492261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37504736 37540953 Copy number Gastric cancer Human cDNA microarrays 17229543 chr4 37504737 37540953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 37504737 37540953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37524085 37524190 Gain and loss Pancreatic cancer SNP array 17952125 chr4 37542357 37578772 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 37550038 37650767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37569114 37817189 Amplification Intellectual disability 100k SNP Array 21811512 chr4 37569114 37817189 Copy number Gastric cancer Human cDNA microarrays 17229543 chr4 37569115 37817191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 37569115 37817191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37583715 37583780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37638286 37638376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37638450 37639026 Amplification Intellectual disability 100k SNP Array 21811512 chr4 37650909 37686275 Gain and loss Pancreatic cancer SNP array 17952125 chr4 37656979 37657011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 3766621 4093125 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr4 37688170 37688215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37690849 37691004 Gain and loss Pancreatic cancer SNP array 17952125 chr4 37715286 37963360 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3772413 3772481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37784622 37785231 Gain and loss Pancreatic cancer SNP array 17952125 chr4 37836681 37836781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37861361 37861461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37887538 37887638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37894784 37894866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37913485 37939677 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 37916629 37916712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37935269 37935560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37935580 37935843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 37936434 37936534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37936582 37936846 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 37937026 37937106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 37940673 37941865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 37945157 37945437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3797565 3797780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 3797571 3797630 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr4 3797766 3797870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 37995698 38026042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 3805303 3806691 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38061286 38061386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38081440 38081731 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38081751 38082014 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38086615 38086715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38091328 38091608 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3809272 3809387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38162495 38162549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 38186025 38186151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3824289 3824382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38290717 38342644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 38290717 38342644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38290717 38342644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38304424 38342825 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 38304424 38342825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38308181 38328879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 38308985 38315345 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 38317898 38317971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38331490 38331585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38342185 38379523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38342185 38379523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38342212 38376791 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 38342307 38342407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38359583 38388501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 3837858 3837958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38431847 38432393 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 38431871 38432660 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 38436807 38436908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38450595 38488996 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38450646 38460984 Copy number Lung cancer - 20668451 chr4 38450646 38460984 Gain or loss Breast cancer - 20668451 chr4 38450646 38460984 Gain or loss Cancer - 20668451 chr4 38450646 38460984 Gain or loss Lung cancer - 20668451 chr4 38450646 38460984 Gain or loss Ovarian cancer - 20668451 chr4 38450646 38460984 Gain or loss Pancreas cancer - 20668451 chr4 38450646 38460984 Gain or loss Prostate cancer - 20668451 chr4 38450658 38460984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38450658 38460984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38474270 38482807 Copy number Gastric cancer Human cDNA microarrays 17229543 chr4 38474270 38482807 Copy number Lung cancer - 20668451 chr4 38474270 38482807 Gain or loss Breast cancer - 20668451 chr4 38474270 38482807 Gain or loss Cancer - 20668451 chr4 38474270 38482807 Gain or loss Lung cancer - 20668451 chr4 38474270 38482807 Gain or loss Ovarian cancer - 20668451 chr4 38474270 38482807 Gain or loss Pancreas cancer - 20668451 chr4 38474270 38482807 Gain or loss Prostate cancer - 20668451 chr4 38474275 38482807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38474275 38482807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38488383 38522964 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3849042 3850839 Gain Normal 244K array 17666407 chr4 38504618 38507555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38504618 38507555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38504802 38507555 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 38504802 38534833 Gain or loss Breast cancer - 20668451 chr4 38504802 38534833 Gain or loss Cancer - 20668451 chr4 38504802 38534833 Gain or loss Lung cancer - 20668451 chr4 38504802 38534833 Gain or loss Ovarian cancer - 20668451 chr4 38504802 38534833 Gain or loss Pancreas cancer - 20668451 chr4 38504802 38534833 Gain or loss Prostate cancer - 20668451 chr4 38516411 38516481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38538151 38538236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38545831 38621821 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr4 38545832 38621819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38545832 38621819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38546048 38546143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38554589 39135549 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 38596426 38607155 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38610691 38610791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38620444 38628978 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38644760 38710937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38644760 38710937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38644835 38710436 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr4 38651270 38653660 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38670490 38706854 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 38670490 38708374 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 38692003 38767990 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38697312 42182524 Loss Bladder cancer array-CGH 21909424 chr4 3870638 4236511 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 38707472 38707753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 38723054 38804810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38723054 38804810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38756325 38756390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38768975 38769029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38790935 38856548 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38791955 38792055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38812259 38812359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38825176 38825260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38858173 38963822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38858173 38963822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38863093 38863187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38886626 38950981 Gain and loss Pancreatic cancer SNP array 17952125 chr4 38917256 38917406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38965471 39044390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 38965471 39044390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 38966977 38967077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 38975620 38975726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39006590 39109995 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39062718 39062818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 39064545 39124044 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 39065627 39065727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 39076499 39076559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 39077164 39077263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39078050 39078145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 39084867 39129546 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr4 39084868 39126748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39084868 39126748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 391040 391369 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 39111642 39190561 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39121791 39121897 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39124003 39125224 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 39125430 39424795 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 39125430 39424795 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 39132139 39136963 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr4 39132154 39136939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39132154 39136939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39137060 39155664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39137060 39155664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39150413 39150497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 39158500 39158613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39176771 39205606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39176771 39205606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39223335 39223434 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39228943 39316876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39228943 39316876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39231039 39272919 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39254472 39445667 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 39262956 39265557 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 39264881 39348017 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 39265851 39265946 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39265851 39265948 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39278324 39283110 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3928212 3928861 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39283231 39301835 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39304441 39306087 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39323606 39351604 Gain and loss Pancreatic cancer SNP array 17952125 chr4 393613 393706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39375114 39463047 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39376205 39457977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39376205 39457977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3938203 3950627 Gain Normal Quantitative PCR 18989455 chr4 3940865 3941131 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39410564 39410731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 39439015 39439313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39439015 39439316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39445199 39445259 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39448108 39449395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39485723 39504277 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 39485723 39504277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39500879 39654592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 39500879 39655971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39500879 39655971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39522437 39604148 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39534273 39534357 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39534273 39534366 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39585186 39585484 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39594267 39595575 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39647050 39802058 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3964803 4116435 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 3964803 4116435 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 3964803 4154233 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 39667650 39667728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 39687023 39687338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 39699701 39704000 Deletion Glioma mate-paired sequence 20126413 chr4 39701424 39702789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 39701722 39702524 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 39720932 39735214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39720932 39735214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39734919 39836267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39734919 39836267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3974022 4116435 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 39755889 39755997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39760998 39761125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 39781731 39784409 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 39781850 39781950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 39874921 39922676 Copy number Lung cancer - 20668451 chr4 39874921 39922676 Gain or loss Breast cancer - 20668451 chr4 39874921 39922676 Gain or loss Cancer - 20668451 chr4 39874921 39922676 Gain or loss Lung cancer - 20668451 chr4 39874921 39922676 Gain or loss Ovarian cancer - 20668451 chr4 39874921 39922676 Gain or loss Pancreas cancer - 20668451 chr4 39874921 39922676 Gain or loss Prostate cancer - 20668451 chr4 39874922 39922676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 39874922 39922676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 3988501 4009500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 39897720 39979583 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39902070 39902168 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39902072 39902168 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39907169 39907292 Gain and loss Pancreatic cancer SNP array 17952125 chr4 39907185 39907288 Gain and loss Pancreatic cancer SNP array 17952125 chr4 3994417 4008064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40021168 40068419 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40032226 40051730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 40032226 40051730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40095898 40143033 Amplification or deletion Cancer Array CGH 17440070 chr4 40120029 40326640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 40120029 40326640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40160490 40160578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40165304 40165404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 40178397 40197901 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40220397 40220459 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40266106 40266206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 40266687 40358896 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40333272 40333367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 40344513 40344611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 40375955 40580395 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 40393520 40400195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 40395272 40395496 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr4 40446671 40506755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 40446671 40506755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40476160 40476260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 40488388 41017646 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 40510996 40911245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 40510996 40911245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40523429 40523539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40565652 40565744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40592842 40652928 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4063100 4075235 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40639002 40666167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 40657167 41057416 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4066344 4236950 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 40667546 40667624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40669602 40669710 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40674607 40674641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 40686928 40687047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40688640 40688740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 40710631 40710720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 40710654 40711245 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 40711823 40711915 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40762847 40762964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 40781381 40781487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40810716 40810819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40812044 40816815 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 40819491 40854787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 40833099 40833218 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40833099 40833220 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4083676 4227518 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 4086817 4141081 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4089713 4089815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40900000 45600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 40900000 45600000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr4 40915223 41888327 LOH Normal High-resolution SNP genotyping 21211785 chr4 409224 457918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 409224 457918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40927552 40927658 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40927553 40927658 Gain and loss Pancreatic cancer SNP array 17952125 chr4 40953685 40965202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 40953685 40965202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 40953685 40965203 Gain or loss Breast cancer - 20668451 chr4 40953685 40965203 Gain or loss Cancer - 20668451 chr4 40953685 40965203 Gain or loss Lung cancer - 20668451 chr4 40953685 40965203 Gain or loss Ovarian cancer - 20668451 chr4 40953685 40965203 Gain or loss Pancreas cancer - 20668451 chr4 40953685 40965203 Gain or loss Prostate cancer - 20668451 chr4 40956887 40956990 Gain and loss Pancreatic cancer SNP array 17952125 chr4 41000000 191273063 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr4 41000011 41000111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41009401 41009501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 41057559 41395746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 41057559 41395746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 4108296 4227515 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 41099857 41111373 Gain and loss Pancreatic cancer SNP array 17952125 chr4 41100887 41102324 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 41101013 41102599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 41139952 41140051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 41146184 41146282 Gain and loss Pancreatic cancer SNP array 17952125 chr4 41152488 41161610 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 41200000 155600000 Amplification Esophageal squamous carcinoma CGH 18350619 chr4 41200000 44600000 Copy number Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 chr4 41200000 48200000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr4 41203732 41541917 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4126376 4236950 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 4127194 4245363 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 4129621 4130119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41323141 41323173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 41354364 41386522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 4136962 4137109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41384343 41384443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 41384747 41384879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 41413 4080171 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr4 41440855 41445744 Gain or loss Breast cancer - 20668451 chr4 41440855 41445744 Gain or loss Cancer - 20668451 chr4 41440855 41445744 Gain or loss Lung cancer - 20668451 chr4 41440855 41445744 Gain or loss Ovarian cancer - 20668451 chr4 41440855 41445744 Gain or loss Pancreas cancer - 20668451 chr4 41440855 41445744 Gain or loss Prostate cancer - 20668451 chr4 41440857 41445744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 41440857 41445744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41441170 41441229 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr4 41468717 41468877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41473542 41473642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4154233 4222224 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 4154233 4236950 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 41587028 41591915 Gain and loss Pancreatic cancer SNP array 17952125 chr4 41587461 41589446 Gain Normal 244K array 17666407 chr4 4160457 4191456 Loss Normal TaqMan assays 20972442 chr4 41614826 41615048 Gain and loss Pancreatic cancer SNP array 17952125 chr4 41614890 41615048 Gain and loss Pancreatic cancer SNP array 17952125 chr4 41614936 41702062 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 41631926 41652580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 41631926 41652580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41659146 41659246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 41661641 41666529 Amplification or deletion Cancer Array CGH 17440070 chr4 41678548 41679877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41687280 41784307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 41687280 41784307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41718693 41718876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 41778097 41798751 Gain and loss Pancreatic cancer SNP array 17952125 chr4 41780338 41780376 Loss Normal 244K array 17666407 chr4 4179261 4180171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41807491 41815266 Indels Normal Affymetrix and Illumina arrays 20811451 chr4 41807714 41849652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 41807714 41849652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 41823134 41823186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 41824701 41829328 Gain and loss Pancreatic cancer SNP array 17952125 chr4 41833472 41930465 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4185889 4236950 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 41866402 43040347 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr4 41902351 42707295 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr4 4195001 4201000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 41951552 41951652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 41960822 41995622 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4197457 4210456 Loss Normal TaqMan assays 20972442 chr4 41991063 42018499 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 42034197 42036465 Gain Normal 244K array 17666407 chr4 42087840 42088058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42087950 42088050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42088037 42088137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42088052 42088239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42094613 42099261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 42094613 42099261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 42105147 42353879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 42105147 42353879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 42105148 42353879 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 4215134 4275033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 42168387 42749414 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 42243962 42245431 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4224604 4286949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 42255563 42499830 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4225816 4297207 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 42269258 43458567 LOH Normal High-resolution SNP genotyping 21211785 chr4 42272389 42272528 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 4227640 4227900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 42300000 58230000 Gain Acute lymphoblastic leukemia - 21339820 chr4 42304000 58237000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr4 42308555 42308655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42342857 43677155 LOH Normal High-resolution SNP genotyping 21211785 chr4 423718 152300259 Deletion Intellectual disability Array CGH 22102821 chr4 4237729 4238083 Gain and loss Pancreatic cancer SNP array 17952125 chr4 423777 483442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 423777 483442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 423778 483442 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr4 42378409 42749414 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 4238 8885739 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 42390 56719 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 42400894 42404194 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 4241354 4279517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 4241354 4279517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 42457432 42464295 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 42590041 42727314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 42590041 42727432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 42590041 42727432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 42593995 42594095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42596061 42617657 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 42599923 42600610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 42599940 42599989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42612609 42612689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42652740 42671958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 42685669 42685769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42693829 44842401 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr4 42751329 42751429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42766209 43660543 LOH Normal High-resolution SNP genotyping 21211785 chr4 42778154 42778281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 42778315 42778561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4287 54932 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr4 4288170 4300870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 4288170 4300870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 42892401 43667732 LOH Normal High-resolution SNP genotyping 21211785 chr4 42918292 42918392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4292121 4305089 Gain Normal Quantitative PCR 18989455 chr4 4294596 4295047 Gain and loss Pancreatic cancer SNP array 17952125 chr4 42975400 43463600 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 42975400 43563789 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 43039039 43039134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43039450 43039546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4307 2356621 Deletion Breast cancer FISH 17142309 chr4 4308602 4346693 Gain and loss Pancreatic cancer SNP array 17952125 chr4 43100468 46792217 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 43106815 43107711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43150399 43150639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4320340 4342774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 4320340 4342774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43226 78099 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr4 43227 77340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43227 78099 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 43252986 43253882 Gain and loss Pancreatic cancer SNP array 17952125 chr4 43287647 43287747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43295312 43295611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43295314 43295608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43358 146491 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 43358 146496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 43358 146496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43399744 43399986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43399888 43399988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43399978 43400078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4342878 4374410 Deletion Intellectual disability 100k SNP Array 21811512 chr4 4342879 4374410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 4342879 4374410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43430004 43430104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43441485 43441779 Gain and loss Pancreatic cancer SNP array 17952125 chr4 43446563 43446871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 43461344 43461419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43500172 43500272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43511033 45147888 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr4 43534966 45590689 Deletion Intellectual disability Array CGH 22102821 chr4 4355341 4368006 Gain and loss Pancreatic cancer SNP array 17952125 chr4 43560075 43560323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43571414 43616841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 43580920 43581015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4359414 4794938 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 4359414 4996073 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 43595231 43596125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 43599429 43599529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43626253 43626593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 43642192 43642292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43660543 43721320 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 43705787 43705855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43706246 43706494 Gain and loss Pancreatic cancer SNP array 17952125 chr4 43713048 43721962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 43713478 43713750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 43721320 44276611 LOH Normal High-resolution SNP genotyping 21211785 chr4 43741922 43742296 Gain and loss Pancreatic cancer SNP array 17952125 chr4 43831250 43831338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43839202 43865673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 43844321 44393045 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 43844321 44962783 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 43870683 44145581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 43870683 44145581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 4387511 4409915 Gain and loss Pancreatic cancer SNP array 17952125 chr4 43878477 43924497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 43890602 43914142 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 43912299 43946130 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 43930413 45359900 Deletion Acute myeloid leukemia - 21251322 chr4 43967184 43967284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 43979081 44126954 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 4400768 4471686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 4400768 4471686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 44013993 44014313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 44017735 44291468 Gain and loss Pancreatic cancer SNP array 17952125 chr4 44018589 44025731 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 44035320 44035420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44052661 44097318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 44062631 44712452 LOH Normal High-resolution SNP genotyping 21211785 chr4 44075143 44075232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4408051 9758425 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 44099489 45951515 LOH Normal High-resolution SNP genotyping 21211785 chr4 4410048 4441584 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4412098 4412198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44148360 44148460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44151865 44151953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44169310 44169369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44182347 44184346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 44202033 44202486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 44204135 44204452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 44204179 44204242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4426771 4457473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 44271902 44307063 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 44325453 44348415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 44325453 44348415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 44351351 44351451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44356178 44356278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4435867 4435961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44362259 44362359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4437501 4473500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 44375189 44397454 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr4 44375190 44397453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 44375190 44397453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 44398924 44423369 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 44398926 44423369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 44398926 44423369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 44465359 44472503 Gain and loss Pancreatic cancer SNP array 17952125 chr4 44514463 44559841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 44521411 44542130 Gain and loss Pancreatic cancer SNP array 17952125 chr4 44545097 44569540 Gain and loss Pancreatic cancer SNP array 17952125 chr4 44565481 44565653 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 44588273 44588373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44600000 48200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 44600000 48200000 Loss Gastric cancer Array CGH 16891809 chr4 44600000 48200000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr4 44600000 59500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 44666754 44666925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 44666756 44666927 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr4 44674392 44674492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44683421 47033113 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 44691063 44691163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44691513 46229513 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr4 4471599 4594676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 4471599 4594676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 4471973 4472073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44816466 44846780 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 4484000 4484077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 44842401 45967563 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 44904001 44905500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 44983852 44990063 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 45009649 46280909 LOH Normal High-resolution SNP genotyping 21211785 chr4 45009649 46321072 LOH Normal High-resolution SNP genotyping 21211785 chr4 45013804 45013839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 45033728 45906732 LOH Normal High-resolution SNP genotyping 21211785 chr4 45038004 47033113 LOH Normal High-resolution SNP genotyping 21211785 chr4 45038004 47043837 LOH Normal High-resolution SNP genotyping 21211785 chr4 45038004 47048308 LOH Normal High-resolution SNP genotyping 21211785 chr4 4505264 4538854 Gain and loss Pancreatic cancer SNP array 17952125 chr4 45069596 45098353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 45076524 45121000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 45111111 45111419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 45147888 46520763 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr4 45165465 47111576 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 45175163 45175233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 45176804 45176910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 45216169 45222432 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 45257282 45257590 Gain and loss Pancreatic cancer SNP array 17952125 chr4 45322975 45323075 Gain and loss Pancreatic cancer SNP array 17952125 chr4 45322978 45323084 Gain and loss Pancreatic cancer SNP array 17952125 chr4 45347126 45347226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4538586 5119073 Loss Prostate cancer Array CGH 18632612 chr4 4538770 4661847 Gain and loss Pancreatic cancer SNP array 17952125 chr4 45393855 45393910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 45471004 45471104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 45530902 45554433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 45571391 45571442 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr4 45600000 48700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 45600000 48700000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr4 45600000 48700000 Copy number Normal - 21701786 chr4 45600000 48700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 45619591 45891135 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 45691893 45692193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 45709594 45709694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 45732543 45820839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 45732543 45820839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 45748701 45754800 Deletion Glioma mate-paired sequence 20126413 chr4 45750748 45752952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 45823714 45823814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 45827792 45827892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 45838064 45838303 Gain and loss Pancreatic cancer SNP array 17952125 chr4 45838064 45838385 Gain and loss Pancreatic cancer SNP array 17952125 chr4 45848970 45849069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 45862035 46110788 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-451K arrays 21546498 chr4 45878717 45967010 Gain and loss Pancreatic cancer SNP array 17952125 chr4 45895501 45901600 Deletion Glioma mate-paired sequence 20126413 chr4 45897553 45899783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 45934091 45934177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 45946341 46086561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 45946341 46086561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 46014881 46014971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46085996 46086096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46092512 46232873 Gain and loss Pancreatic cancer SNP array 17952125 chr4 46119165 46596041 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 46148884 46148968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4618927 4619524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 4618969 4619476 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 46243693 46243793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46257352 47368634 LOH Normal High-resolution SNP genotyping 21211785 chr4 4626879 4627582 Gain and loss Pancreatic cancer SNP array 17952125 chr4 46302534 46302634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46327425 46327525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46340076 46340176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46374182 46374286 Gain and loss Pancreatic cancer SNP array 17952125 chr4 46374182 46374287 Gain and loss Pancreatic cancer SNP array 17952125 chr4 46413179 46413274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46420604 46421182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 46420604 46421182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 46431601 46606009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 46431601 46606009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 46481052 46481152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46491758 46493895 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 46566775 46567353 Gain and loss Pancreatic cancer SNP array 17952125 chr4 46577777 46752166 Gain and loss Pancreatic cancer SNP array 17952125 chr4 46591659 46602022 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 46603415 46603475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46615676 46690337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 46615676 46690337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 4669294 4669394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 46728336 47123202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 46728336 47123202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 46761847 46836508 Gain and loss Pancreatic cancer SNP array 17952125 chr4 46838968 46872887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 46874507 47269373 Gain and loss Pancreatic cancer SNP array 17952125 chr4 46983271 47027954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 47002709 47002810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47007612 47007781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47007790 47008017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47007810 47007910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47045954 47046054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47059696 47059796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47081627 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 47130668 47130757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47140759 47160459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 47140759 47160459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47148880 47148981 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47153226 47185950 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 4716669 4716769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47181191 47879049 LOH Normal High-resolution SNP genotyping 21211785 chr4 47182167 47290260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 47182167 47290260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47182595 47182646 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr4 47187760 47188235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47231844 48611865 LOH Normal High-resolution SNP genotyping 21211785 chr4 47256399 47890895 LOH Normal High-resolution SNP genotyping 21211785 chr4 47281699 48641314 LOH Normal High-resolution SNP genotyping 21211785 chr4 47290775 47534816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 47290775 47534816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47293741 47306604 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47300268 47501217 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 47304509 47304609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47309657 48104120 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 47309657 48613152 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 47314490 48468085 LOH Normal High-resolution SNP genotyping 21211785 chr4 47328338 47436431 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47333928 47334342 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47373509 47398913 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 47380503 47891808 LOH Normal High-resolution SNP genotyping 21211785 chr4 47390644 47894157 LOH Normal High-resolution SNP genotyping 21211785 chr4 47424121 47631300 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr4 47436946 47680987 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47496326 47496530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47496523 47496710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47508285 47508380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47538 117452 Gain Autism Exome sequencing and CGH 22495309 chr4 47544013 47611437 Copy number Lung cancer - 20668451 chr4 47544013 47611437 Gain or loss Breast cancer - 20668451 chr4 47544013 47611437 Gain or loss Cancer - 20668451 chr4 47544013 47611437 Gain or loss Lung cancer - 20668451 chr4 47544013 47611437 Gain or loss Ovarian cancer - 20668451 chr4 47544013 47611437 Gain or loss Pancreas cancer - 20668451 chr4 47544013 47611437 Gain or loss Prostate cancer - 20668451 chr4 47544017 47611390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 47544017 47611390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47560039 47595436 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 4758699 4758799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47616133 47616233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47632753 47678276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 47632753 47678276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47654456 47654551 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47657395 47703181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 47672924 47673047 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 47672990 47673101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47688020 47689800 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47690188 47757583 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47713547 47733837 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 47713548 47736947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 47713548 47736947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47719865 47719965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47734937 47735008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47763167 47831030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 47763167 47831030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47764081 47765102 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47774227 47774327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47779366 47795646 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47779466 47781118 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47789328 47789394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 47796887 47796987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47800986 47801138 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 47802855 47802962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47806127 47806186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47809647 47920429 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 47809647 47920429 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 47815432 47920429 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 47815432 47920429 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 47816939 47817000 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr4 47832557 47966571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 47832557 47966571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47850208 47850309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 47859758 47880875 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47860399 47861061 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 47864332 47864681 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 47868177 47873016 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 47873571 47887504 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 47890590 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 47907002 47907152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 47909689 47977201 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47916256 48608239 LOH Normal High-resolution SNP genotyping 21211785 chr4 47918375 48661514 LOH Normal High-resolution SNP genotyping 21211785 chr4 47921781 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 47923833 48566741 LOH Normal High-resolution SNP genotyping 21211785 chr4 47923833 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 47949026 47949133 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47949027 47949133 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47952298 47952357 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47978729 48112754 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47996379 47996478 Gain and loss Pancreatic cancer SNP array 17952125 chr4 47996379 47996479 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48010454 48633620 LOH Normal High-resolution SNP genotyping 21211785 chr4 48024336 48612955 LOH Normal High-resolution SNP genotyping 21211785 chr4 48024336 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48030300 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48032421 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48038370 48122972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48053342 48187356 Amplification or deletion Cancer Array CGH 17440070 chr4 48095041 48103901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 48100000 48781000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr4 48107461 48107714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48109086 48109306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 48125599 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48161359 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48166881 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48175604 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48180206 48185921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 48180206 48185921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48184571 48269004 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48187066 48191181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 48187066 48191181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48194137 48477073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 48194137 48477073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48200000 48772000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr4 48221230 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48228093 48228193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48253142 48253242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48253632 48253885 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48254274 48254274 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr4 48300000 151000000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr4 48300000 99100000 Copy number Parkinson disease from references 18923514 chr4 48300000 99100000 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr4 48300000 99100000 Loss Cancer array-based techniques 21183584 chr4 483010 523317 Gain and loss Pancreatic cancer SNP array 17952125 chr4 483010 523317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48323062 48323149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48326377 48332092 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48333237 48337346 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48340496 48400648 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48343433 48428219 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 48349928 68890484 Copy number Lung cancer paired-end sequencing 18438408 chr4 48354795 53351715 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 48397222 48397298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48397633 48397733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48417352 48417471 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48417404 48417469 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48422875 48422975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48423804 48623204 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48498896 48498986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48501281 48522706 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 48501389 48501489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48527772 48558588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 48527772 48558588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48532608 48532708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48560890 48561288 Loss Normal 244K array 17666407 chr4 48582164 48603572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 48582164 48603572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48600869 48600969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48629530 48629608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 4863024 9205888 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr4 48661514 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 4866819 4866914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48674010 48704191 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48683022 48758850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48683661 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48684777 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48690448 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48697327 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48700000 141700000 Copy number Breast cancer BAC array 16272173 chr4 48700000 50700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 48700000 50700000 Gain Schizophrenia Affymetrix 6.0 array 21399695 chr4 48700000 70400000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr4 48703911 48784131 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 48705786 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48728335 48749735 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4875538 4875638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48773964 48799049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 48775701 48775779 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48778401 50865650 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 48779326 48779466 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48779329 48779466 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48788001 48853500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 48788531 49256730 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 48788531 49315630 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 48789651 49353840 LOH Normal High-resolution SNP genotyping 21211785 chr4 48813848 49353369 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 48827077 48882370 Gain Normal TaqMan assays 20972442 chr4 48829193 48905021 Gain and loss Pancreatic cancer SNP array 17952125 chr4 48843579 49353357 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 48846912 48851668 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 48849363 49353357 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 48853501 49273500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 48881392 48881492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48887398 48908801 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 48892338 48892418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48893307 48893387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48893977 48894058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48894789 48894871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48894981 48895063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 48898338 49501045 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 48901184 49353357 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 48908299 48908382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48908929 48908984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48912980 48915855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 48941766 48941817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 48957548 48961800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 48962541 49353369 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 48984176 48997477 Gain Normal TaqMan assays 20972442 chr4 48988581 48988670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48989956 48990056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 48991965 49353357 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 49002270 49018946 Gain Normal TaqMan assays 20972442 chr4 49008695 49008780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4901001 4927500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 49041136 49041236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 4905 5293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 49060000 49630000 Loss Breast cancer aCGH 21509527 chr4 49106209 49163425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 4912293 4916557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 4912293 4916557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 49128139 49129917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49129901 49131109 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 4917088 4917182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 49203137 49230690 Gain Normal TaqMan assays 20972442 chr4 49231988 49234952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 49256730 49353357 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 49273501 49292500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 49291765 49291847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 49292384 49292466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 49292501 49328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 49294578 49294660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 49295197 49295279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 49295389 49295471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 49296202 49296283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 492988 533319 Amplification Melanoma MLPA assay 21693616 chr4 49312037 49352993 Gain Normal TaqMan assays 20972442 chr4 49320 78099 Gain Normal BAC array 16365383 chr4 49328001 50855000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 49329870 49501045 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 49331530 49345521 Gain and loss Pancreatic cancer SNP array 17952125 chr4 49332119 49338149 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 4933501 5110600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 49349738 49354629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49350084 49366068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49353191 49356614 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49353209 49354608 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49354424 49355685 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49354739 49355608 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49354974 49355888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49355027 49357318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49356096 49369813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49356168 49357304 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49356688 49374469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 4942145 4942243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 49428566 49466737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 49461457 49577795 Copy number Normal Quantitative Real-Time PCR 17666543 chr4 4946810 4947801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 4973381 4973692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 4979478 4983530 Gain and loss Pancreatic cancer SNP array 17952125 chr4 4999960 5543281 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 500501 608500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 5016317 5021200 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 5018188 5018288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5031157 5031257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 50400000 191154276 Deletion Colorectal cancer GISTIC software 19359472 chr4 50400000 191154276 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr4 50400000 191154276 Loss Medulloblastoma Array CGH 18056178 chr4 50400000 191154276 Loss Multiple myeloma CGH, Real-Time PCR 17077331 chr4 50400000 191154276 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr4 50400000 191154276 Loss Primary mediastinal b-cell lymphoma Array CGH 17728785 chr4 50400000 191154276 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 50400000 191154276 Terminal deletion 4q-syndrome references 17576883 chr4 50400000 59500000 Amplification Glioblastoma multiforme Q-PCR 19435819 chr4 50400000 70500000 Loss and deletion Multiple myeloma Array CGH 16616336 chr4 5040552 5040863 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5040559 5040863 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5065844 5072100 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 5065844 5072100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 50700000 191273063 Amplificationdeletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr4 50700000 191273063 Deletion Colorectal cancer CGH 20709793 chr4 50700000 191273063 Deletion Muscular dystrophy FISH 21149563 chr4 50700000 191273063 Deletion Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 chr4 50700000 191273063 Gain Medulloblastoma SNP arrays 21979893 chr4 50700000 191273063 Gain or loss Endometrial cancer CGH 22040021 chr4 50700000 191273063 Loss Breast cancer aCGH 21264507 chr4 50700000 191273063 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chr4 50700000 191273063 Loss Glioblastoma multiforme CGH 17387387 chr4 50700000 191273063 Loss Glioblastoma multiforme CGH 19960244 chr4 50700000 191273063 Loss Hepatocellular carcinoma CGH 22174799 chr4 50700000 191273063 Loss Liposarcoma FISH, CGH 21253554 chr4 50700000 191273063 Loss Oligodendroglial tumors CGH 17285580 chr4 50700000 52400000 Gain Myxofibrosarcoma Array CGH 16751306 chr4 50700000 59200000 Amplification Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 chr4 50700000 59200000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr4 5100019 5133337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 5104428 5553626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 5104428 5553626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5134388 5139269 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5168218 5168287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 5171599 5620797 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5200000 10900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 5200000 10900000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr4 5200000 10900000 Deletion Schizophrenia high-density microarrays 22241247 chr4 5200000 10900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 5200000 50700000 Gain Medulloblastoma SNP arrays 21979893 chr4 52355612 52378259 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 52355612 52378259 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 52355612 53512273 LOH Normal High-resolution SNP genotyping 21211785 chr4 52378259 54358811 LOH Normal High-resolution SNP genotyping 21211785 chr4 52379648 53244400 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 52380456 52380940 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 52400000 187300000 Loss Metanephric adenoma Oligo aCGH 20802469 chr4 52400000 191273063 Loss Breast cancer Array CGH 16608533 chr4 52400000 59200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 52400000 59200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 52400000 59200000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr4 52400000 59200000 Gain Malignant fibrous histiocytomas aCGH 21085701 chr4 52400000 59200000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 chr4 52404033 52477756 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 52404033 52477756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 52404033 52477756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 52409268 56108574 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-443K arrays 21546498 chr4 5241663 5241760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 52501046 52679030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 52550228 52623935 Gain and loss Pancreatic cancer SNP array 17952125 chr4 52554625 52578543 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 52554625 52578543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 52554625 52578543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 52581628 52599203 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr4 52581629 52599203 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 52581629 52599203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 52581629 52599203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 52600000 55926000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr4 52612350 52658212 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 52612350 52658212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 52612350 52658212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 52700000 123800000 Deletion Adenoid cystic carcinoma Array CGH 18698036 chr4 52700000 170100000 Deletion Lung cancer Array CGH 19208797 chr4 52700000 59500000 Amplification Glioblastoma FISH 16823502 chr4 52700000 59500000 Amplification Glioblastoma Real-Time PCR 17504929 chr4 52700000 59500000 Amplification Melanoma CGH 16908931 chr4 52700000 59500000 Copy number Glioblastoma correlation matrix diagonal segmentation method 20031968 chr4 52700000 59500000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 chr4 52700000 59500000 Deletion Adenoid cystic carcinoma Array CGH 18698036 chr4 52700000 59500000 Gain Basal cell lymphoma Array CGH 19029149 chr4 52700000 59500000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 chr4 52700000 59500000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chr4 52700000 59500000 Gain or loss Gastrointestinal stromal cancer FISH 17438095 chr4 52700000 59500000 Loss Esophageal squamous carcinoma Array CGH 17470683 chr4 52700000 59500000 Loss Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 chr4 52700000 76300000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr4 52700076 52700161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 52701506 52724707 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5270574 5270661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 52724442 56642448 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 52730794 52745353 Gain and loss Pancreatic cancer SNP array 17952125 chr4 52758521 52804385 Gain and loss Pancreatic cancer SNP array 17952125 chr4 52847041 52847121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 52858831 52858931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 52890165 52890265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 52902324 52934408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 52912512 52933469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 52965879 53667719 LOH Normal High-resolution SNP genotyping 21211785 chr4 52999891 53029174 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 53046343 53080605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 53055772 53055875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53070936 53071037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53151204 53151575 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 53151204 53151575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53155964 53220197 Gain or loss Breast cancer - 20668451 chr4 53155964 53220197 Gain or loss Cancer - 20668451 chr4 53155964 53220197 Gain or loss Lung cancer - 20668451 chr4 53155964 53220197 Gain or loss Ovarian cancer - 20668451 chr4 53155964 53220197 Gain or loss Pancreas cancer - 20668451 chr4 53155964 53220197 Gain or loss Prostate cancer - 20668451 chr4 53155967 53203747 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 53155967 53203747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 53155967 53203747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53168903 53168992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53201943 53202045 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53201945 53202046 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53217107 53217208 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53222269 53222454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53222463 53222709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53251177 53251252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53274173 53274294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53294557 53295570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 53297375 53297746 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53302138 53366368 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53303476 53312539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 53303476 53312539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53304443 53312323 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 53309061 53309183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53315074 53315163 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53347461 53347562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53357019 68904351 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 53419855 53419944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53423241 53427752 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 53423241 53427752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 53423241 53427752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53423251 53427759 Gain or loss Breast cancer - 20668451 chr4 53423251 53427759 Gain or loss Cancer - 20668451 chr4 53423251 53427759 Gain or loss Lung cancer - 20668451 chr4 53423251 53427759 Gain or loss Ovarian cancer - 20668451 chr4 53423251 53427759 Gain or loss Pancreas cancer - 20668451 chr4 53423251 53427759 Gain or loss Prostate cancer - 20668451 chr4 53433910 53926865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 53433910 53926865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53434893 53926999 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 53449647 53458710 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53493632 53493731 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53493633 53493732 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53499425 53722352 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 53508947 53509047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5351805 5351905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53569412 53573923 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53570714 54570714 Deletion or amplification Glioblastoma multiforme - 21525872 chr4 53580883 54073036 Gain and loss Pancreatic cancer SNP array 17952125 chr4 53617402 53617502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53625891 53931443 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-456K arrays 21546498 chr4 53628338 53628438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53634367 57090231 Amplification Glioblastoma multiforme Array CGH 19115005 chr4 53664766 53664865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53674762 53674762 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 53680833 53680933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53709335 53709385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53734484 53734554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53739611 53739698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53751728 53751801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 53765718 53774999 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 53790203 54790203 Deletion or amplification Glioblastoma multiforme - 21525872 chr4 53815219 129243723 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr4 53826385 53826491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53851645 53851844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53851870 53851970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53860494 53860594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 53929520 53962482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 53938584 54020591 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 53938584 54020591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 53938584 54020591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 53938619 54020599 Gain or loss Breast cancer - 20668451 chr4 53938619 54020599 Gain or loss Cancer - 20668451 chr4 53938619 54020599 Gain or loss Lung cancer - 20668451 chr4 53938619 54020599 Gain or loss Ovarian cancer - 20668451 chr4 53938619 54020599 Gain or loss Pancreas cancer - 20668451 chr4 53938619 54020599 Gain or loss Prostate cancer - 20668451 chr4 53938619 54020599 Translate Idiopathic hypereosinophilic syndrome Affymetrix Genome-wide Human SNP Array 6.0 20824076 chr4 53938619 54859169 Amplification Glioblastoma multiforme Illumina SNP arrays 22286061 chr4 53938619 54859169 Chromosomal imbalances Gastrointestinal stromal cancer CGH 17527083 chr4 53938619 54859169 Copy number Gastrointestinal stromal cancer CGH 20470368 chr4 53938619 54859169 Copy number Gastrointestinal stromal cancer MLPA 17209131 chr4 53938619 54859169 Copy number Lung cancer - 20668451 chr4 53938619 54859169 Gain or loss Breast cancer - 20668451 chr4 53938619 54859169 Gain or loss Cancer - 20668451 chr4 53938619 54859169 Gain or loss Lung cancer - 20668451 chr4 53938619 54859169 Gain or loss Ovarian cancer - 20668451 chr4 53938619 54859169 Gain or loss Pancreas cancer - 20668451 chr4 53938619 54859169 Gain or loss Prostate cancer - 20668451 chr4 53972556 53972662 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54020225 54152481 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 54020225 54152481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 54020225 54152481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54047098 54047307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5405927 5406090 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 54066464 54066499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 54084791 54167956 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54136637 54137311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54166396 54298557 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54170296 58513820 Gain Glioblastoma multiforme 244K oligo array 21138945 chr4 54181529 54241293 Amplification or deletion Cancer Array CGH 17440070 chr4 54193269 54193478 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54206139 54206171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5420938 5421180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 54228936 54229036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 54282838 54283482 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54289801 54296108 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 54330576 54363509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 54353742 54353882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 543558 543842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 54360316 55851899 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 54415411 54415630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 54415643 54415871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 54471680 55980061 Amplification Cancer Affymetrix 250K Sty array 20164920 chr4 5448218 5448310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 54488423 54489065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54506016 54542609 Amplification Normal Arbitrated Peel-off 21527027 chr4 54506016 54542609 Amplification Normal Standard peel-off 21527027 chr4 54535869 54853152 Amplification Normal GISTIC2.0 21527027 chr4 54547508 54547918 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 54547508 54547918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54559978 54560013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 54570714 54625545 Gain or loss Breast cancer - 20668451 chr4 54570714 54625545 Gain or loss Cancer - 20668451 chr4 54570714 54625545 Gain or loss Lung cancer - 20668451 chr4 54570714 54625545 Gain or loss Ovarian cancer - 20668451 chr4 54570714 54625545 Gain or loss Pancreas cancer - 20668451 chr4 54570714 54625545 Gain or loss Prostate cancer - 20668451 chr4 54570720 54625545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 54570720 54625545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 54570720 54625545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54621970 54622279 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 54634600 54635233 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54660955 54662879 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 54660955 54662879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 54660955 54662879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54664504 54664580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54684025 54684123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54693685 54694153 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54708188 54708351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54716891 54771716 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54717142 57973851 Duplication Cancer CGH 22183965 chr4 54717142 57973851 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr4 54790204 54859168 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 54790204 54859168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 54790204 54859168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 54791001 54795000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 54791499 54846269 Amplification or deletion Cancer Array CGH 17440070 chr4 54807126 54809050 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54830196 54830294 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54854359 54854522 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5489735 5699617 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 54914253 54915103 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 54936130 55005339 Gain and loss Pancreatic cancer SNP array 17952125 chr4 54956626 54956726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55010998 55079953 Amplification or deletion Cancer Array CGH 17440070 chr4 55013013 55058583 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 55019046 55028540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 55027256 58370237 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr4 55032 55124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55095264 55146925 Amplificationlication Rhabdomyosarcoma SNP 6.0 array 20807811 chr4 55101535 55146163 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 5511187 5511509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55177177 55177497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 55213974 55215006 Deletion Cancer CGH 22183965 chr4 55213974 55215006 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 chr4 55218851 55301638 Chromosomal imbalances Gastrointestinal stromal cancer CGH 17527083 chr4 55218851 55301638 Copy number Gastrointestinal stromal cancer CGH 20470368 chr4 55218851 55301638 Copy number Gastrointestinal stromal cancer MLPA 17209131 chr4 55218851 55301638 Gain Melanoma aCGH 19509136 chr4 55218851 55301638 Gain or loss Breast cancer - 20668451 chr4 55218851 55301638 Gain or loss Cancer - 20668451 chr4 55218851 55301638 Gain or loss Lung cancer - 20668451 chr4 55218851 55301638 Gain or loss Ovarian cancer - 20668451 chr4 55218851 55301638 Gain or loss Pancreas cancer - 20668451 chr4 55218851 55301638 Gain or loss Prostate cancer - 20668451 chr4 55218852 55301636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 55218852 55301636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55218863 55301636 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 55244953 55245375 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 55262032 55262132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55269826 55278857 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 553235 5507166 Copy number Autism exome sequencing 22495311 chr4 55336247 55358760 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 55342796 55342896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55344434 55344495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 55365089 55447512 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55411793 191154276 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr4 55420871 55420971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5546688 5546780 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55485425 55519529 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 55499930 55501736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 55499978 55501783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 55503432 55503675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 5550437 5550522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55509191 55513094 Amplification or deletion Cancer Array CGH 17440070 chr4 55524094 55606881 Amplification Melanoma FISH 18980976 chr4 55524095 55606879 Amplificationlication Rhabdomyosarcoma SNP 6.0 array 20807811 chr4 55566473 56049829 Duplication Cancer CGH 22183965 chr4 55566473 56049829 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr4 55589788 55589838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55592889 55592995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55607198 55607298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55624665 55624950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55628 47976635 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr4 55639405 55686519 Copy number Lung cancer - 20668451 chr4 55639405 55686519 Gain or loss Breast cancer - 20668451 chr4 55639405 55686519 Gain or loss Cancer - 20668451 chr4 55639405 55686519 Gain or loss Lung cancer - 20668451 chr4 55639405 55686519 Gain or loss Ovarian cancer - 20668451 chr4 55639405 55686519 Gain or loss Pancreas cancer - 20668451 chr4 55639405 55686519 Gain or loss Prostate cancer - 20668451 chr4 55639416 55686519 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 55639416 55686519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 55639416 55686519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55662549 55662581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55668455 55668555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55685501 55687000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 55693312 55693645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 55723496 55723596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55735959 55736009 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55736292 55736383 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 55739060 55739166 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55770836 55771121 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55776550 55776843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5577784 5580426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 5577784 5580426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5578349 5578680 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5578427 5578680 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55785577 55832690 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55801453 55801553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55833202 55833304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55855414 55855522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55907166 55932235 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 55907166 55932235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 55907166 55932235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55922719 55923007 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55922719 55923014 Gain and loss Pancreatic cancer SNP array 17952125 chr4 55935380 55935412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55941555 55941655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 55944648 55991763 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 55956877 55987095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 55956877 55987095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 55956877 55987095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5595759 5762176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 5595759 5762176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 55986858 56130505 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 55993417 56107754 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 55993417 56107754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 55993417 56107754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56000468 58031848 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 chr4 56001585 56001693 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56006029 56006181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 56013221 56013271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56053337 56078406 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56083589 59541227 Duplication Cancer CGH 22183965 chr4 56083589 59541227 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr4 56101450 56101759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56103285 56133270 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56117452 56143259 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 56117452 56143259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 56117452 56143259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56119731 56119831 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56119732 56119830 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56139588 56253925 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56156171 56197222 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 56156171 56197222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 56156171 56197222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56207331 56642448 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 56208692 56208803 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56208693 56208803 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56213009 56213109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56245886 56245986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56247591 56247930 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56247664 56247930 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56260520 56260620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56263624 56299307 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56283394 56283469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56294071 56294744 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 56294561 56298429 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 56302333 56343393 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56357447 56357547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56358612 56363188 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 56359561 56359653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56368751 56375968 Gain Normal 244K array 17666407 chr4 56414573 56466001 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 56414573 56466001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 56414573 56466001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56429779 56456646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 56437291 56472038 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 56440540 56465389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 56442826 56457101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 56446518 56446624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5644955 5647597 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56465289 56465382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56490905 56490996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56502438 58936032 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr4 56505732 56505824 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56509794 56594283 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 56509794 56594283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 56509794 56594283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56560758 56612111 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56580957 56581057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56592689 56592790 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56592689 56592821 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56601238 58190855 Duplication Cancer CGH 22183965 chr4 56601238 58190855 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr4 5662930 5829347 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56640196 56640256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 56655965 56740454 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56658313 56658427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56731118 56891647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 56731118 56891647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56804485 56804573 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56804485 56804589 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5682057 5713917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 56849423 56849506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56859153 56891531 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 56874636 57555635 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr4 56879617 57069085 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 56882138 56882238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56892088 56892159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56899219 56948395 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 56899219 56948395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 56899219 56948395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56917058 56917854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5693533 5693633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 56954288 56996602 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 56954288 56996602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 56954288 56996602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 56962163 57646225 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 56962163 58365751 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 56995594 56995677 Gain and loss Pancreatic cancer SNP array 17952125 chr4 56996672 57022291 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 56996672 57022291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 56996672 57022291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57021690 57034914 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57028519 57064603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57028519 57064603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57028519 57064603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57038259 57038330 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57045390 57094566 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57047942 57048042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57060171 57060271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57063226 57064025 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57066132 57084815 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57066132 57084815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57066132 57084815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57100459 57142773 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57101294 57101394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57102332 57121523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 57142869 57168453 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57174711 57209507 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57194023 57392352 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 57196616 57196741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 57208921 57242627 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57208921 57242627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57208921 57242627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57212303 57230986 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57237771 57310417 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57258035 57258171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57295529 57468702 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57300462 57301458 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57302178 57302776 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57318154 57412952 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 57321842 57322408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57321842 57322408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57331570 57331660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5733969 5734069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57346833 86106712 Duplication Intellectual disability Array CGH 22102821 chr4 57349374 57357735 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 57351812 67432582 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-444K arrays 21546498 chr4 57355094 57388774 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57355273 57355565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57359930 57572181 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr4 57366757 57367053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57368609 57401878 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 57370785 57382654 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57370785 57382654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57370785 57382654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57379141 57379237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57434656 57475359 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57437321 57437372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 57468799 57493097 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57468799 57493097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57468799 57493097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57496888 57497067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57501442 57501736 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57512928 57513225 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57516956 57528825 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57524293 57539746 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57524293 57539746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57524293 57539746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57525314 57525408 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57538665 57592091 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57538665 57592091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57538665 57592091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57547766 57618873 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr4 57563615 57563715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57578560 57608564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 5759001 5762000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 57592000 57671296 Copy number Lung cancer - 20668451 chr4 57592000 57671296 Gain or loss Breast cancer - 20668451 chr4 57592000 57671296 Gain or loss Cancer - 20668451 chr4 57592000 57671296 Gain or loss Lung cancer - 20668451 chr4 57592000 57671296 Gain or loss Ovarian cancer - 20668451 chr4 57592000 57671296 Gain or loss Pancreas cancer - 20668451 chr4 57592000 57671296 Gain or loss Prostate cancer - 20668451 chr4 57592000 57671308 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57592000 57671308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 57592000 57671308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57614970 57639268 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5762001 5804500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 57637685 57637785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5763825 5881673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 5763825 5881673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57639219 57639303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57650610 57661096 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 57667168 57667268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 57670464 57685917 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57685976 57738252 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57688949 57689049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57709786 57709886 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57738174 57817479 Gain and loss Pancreatic cancer SNP array 17952125 chr4 57746393 57795328 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 57748500 57782598 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 57748500 57795328 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 57782094 57782491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 57813339 57813439 Gain and loss Pancreatic cancer SNP array 17952125 chr4 5781934 5823956 Gain Autism Exome sequencing and CGH 22495309 chr4 57834544 57834631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57836061 57986522 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 5784117 5784117 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr4 57842774 57843099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 57875399 57875493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57894345 58495951 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 5790274 5790306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 57942964 57951132 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 57951132 57953111 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 57964055 57964140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5804501 5806500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 58052756 58052809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58053193 58053296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5806501 6089500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 58073983 58118721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 58180962 58185454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 58199364 58199467 Gain and loss Pancreatic cancer SNP array 17952125 chr4 58213668 58365751 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 58271142 59117452 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 chr4 58272556 58272656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5830996 5934103 Gain and loss Pancreatic cancer SNP array 17952125 chr4 58350658 58767429 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 58350833 58350933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58417022 58418102 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 chr4 58417259 58418283 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr4 58417351 58418605 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 chr4 58417351 58418605 Deletion Non-syndromic sensorineural hearing loss 370K1,370K2,610K 19587683 chr4 58444799 61814685 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 58530285 58727740 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr4 58532298 58532384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58582030 58583075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 58664305 58691649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 58717894 58717984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5873393 5945686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 5873393 5945686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 5875471 5875570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58821 212068 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 5885781 5886093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 58859090 58859165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58895033 58895133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58917424 58917524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5892650 5892729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58928597 58928693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58934853 58935512 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr4 58976161 58976261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 58976597 60677173 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 5901829 5901929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59042989 59043039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 59099378 74295567 Deletion Acute myeloid leukemia - 21251322 chr4 59123753 59130295 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 59130000 62980000 Gain Acute lymphoblastic leukemia - 21339820 chr4 59136000 62981000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr4 59166113 59166207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59179189 59179259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59197587 59770653 LOH Normal High-resolution SNP genotyping 21211785 chr4 59200000 66300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 59200000 66300000 Duplication Intellectual disability - 22045946 chr4 59200000 76500000 Loss Normal Human genome CGH 48k ARRAY PLATFORM 22144094 chr4 593208 921184 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 5940583 6012541 Gain and loss Pancreatic cancer SNP array 17952125 chr4 59439844 63107096 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr4 5946326 5948397 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 59500000 66600000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 chr4 59500000 76300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 59500000 76300000 Deletion Osteoporosis Affymetrix Human Mapping 500K Array, electrophoresis and real-time PCR 18992858 chr4 59500000 76300000 Gain Prostate cancer Array CGH 16573809 chr4 59500000 88000000 Loss Basal cell lymphoma CGH 17170743 chr4 59500000 88000000 Loss Follicular lymphoma CGH 17170743 chr4 59500000 98800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 5950219 6042275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 5950219 6042275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 59516903 59517003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5955131 5955241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5957626 5957776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5958001 5958101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59625201 59635100 Deletion Glioma mate-paired sequence 20126413 chr4 59627155 59633196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 59655474 59656666 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 59656666 59670690 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 59667983 59668089 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 59670690 59673471 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 59713 106981 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr4 59720748 59720842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 5972897 5972969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59736584 59736616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59754548 59794770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 59771027 59787376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 59777478 59814765 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 59781238 59810228 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 59829287 61054331 LOH Normal High-resolution SNP genotyping 21211785 chr4 59903920 60430128 LOH Normal High-resolution SNP genotyping 21211785 chr4 59908053 59908152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59919052 59919152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59930839 59930933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59934452 59934512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 59941391 60844847 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr4 59971328 59978915 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 59980350 59980450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6000000 11300000 Amplification Autosomal-dominant microtia Q-PCR 18179897 chr4 6000000 11300000 Gain Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr4 6000000 11300000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 chr4 6000000 15200000 Loss Breast cancer Microarray-based CGH 17133270 chr4 60007544 60013040 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 60070783 60070883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 60082099 60082211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6012884 6012984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 60165872 69057735 Deletion Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 chr4 60166253 60166489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6017390 6109446 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6022800 6022860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 60228270 60228380 Gain and loss Pancreatic cancer SNP array 17952125 chr4 60228270 60228381 Gain and loss Pancreatic cancer SNP array 17952125 chr4 60265803 60265898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 60271685 60271802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 60290068 60320833 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 60373461 60373561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 60381488 60381589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 60382376 60382480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 60435647 60488082 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 60494684 60494784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 60498806 60500358 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 60498964 60500496 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 60520499 60539402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 60527659 60527758 Gain and loss Pancreatic cancer SNP array 17952125 chr4 60527660 60527758 Gain and loss Pancreatic cancer SNP array 17952125 chr4 60528539 60528651 Gain and loss Pancreatic cancer SNP array 17952125 chr4 60528547 60528651 Gain and loss Pancreatic cancer SNP array 17952125 chr4 60531759 60531859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 60537176 61421810 LOH Normal High-resolution SNP genotyping 21211785 chr4 60577199 61810493 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 chr4 60637547 60637697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 60639933 60675347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 60718076 60718403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 60718079 60718409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 60753670 60753750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6078827 6253219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6078827 6253219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 60836933 61397322 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 608501 618000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 60860561 60860661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6089501 6091500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 6091501 6295000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 60923153 61210925 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr4 609373 653896 Gain and loss Pancreatic cancer SNP array 17952125 chr4 609373 654571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 609373 654571 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 609373 654571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6095824 6129060 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 60959924 61146015 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 610000 1090000 Gain Breast cancer aCGH 21509527 chr4 61009781 61009881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61010901 61017700 Deletion Glioma mate-paired sequence 20126413 chr4 61012702 61015784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 61012725 61017305 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 61038516 61061402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 61074668 61074768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61113128 61113213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61149389 61149489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61194443 61194543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61200202 61243166 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 61212262 61212351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 61251824 61252153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 61277130 61277230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61291791 61291891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61304523 61304645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 61307235 61307335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61317501 66095641 Loss Anaplastic thyroid cancer 33K microarrays 18753363 chr4 61352002 61352095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6138727 6172108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 61456385 63111529 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 6149167 6149203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6149515 6169674 Gain and loss Pancreatic cancer SNP array 17952125 chr4 61619901 61626700 Deletion Glioma mate-paired sequence 20126413 chr4 61620293 61620393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61621762 61624843 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 61621784 61624841 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 61621785 61624838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 61623611 61796922 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr4 61623611 61796922 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 6163067 6163127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61681971 61684530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 61706496 61706528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61710907 61711190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6173554 6320354 Gain and loss Pancreatic cancer SNP array 17952125 chr4 61749568 62620763 Copy number Lung cancer - 20668451 chr4 61749568 62620763 Deletion Intellectual disability 100k SNP Array 21811512 chr4 61749568 62620763 Gain or loss Breast cancer - 20668451 chr4 61749568 62620763 Gain or loss Cancer - 20668451 chr4 61749568 62620763 Gain or loss Lung cancer - 20668451 chr4 61749568 62620763 Gain or loss Ovarian cancer - 20668451 chr4 61749568 62620763 Gain or loss Pancreas cancer - 20668451 chr4 61749568 62620763 Gain or loss Prostate cancer - 20668451 chr4 61750001 61751500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 61782191 61789436 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 618001 632500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 61805531 61805631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61824867 61825102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61896139 62766933 Gain and loss Pancreatic cancer SNP array 17952125 chr4 61907469 61907569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61933956 61934011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 61966725 61967862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 61968559 61976534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 61968559 61976534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 61968899 61968999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6199039 6199139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 62001636 62144829 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 620146 697091 Gain and loss Pancreatic cancer SNP array 17952125 chr4 62026967 62629702 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr4 62045434 62620762 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 62045434 62620762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 62045434 62620762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6206393 6206493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 62081224 62115257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 6208738 6242376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 62095761 97650386 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr4 62139063 62139143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 62179801 62184000 Deletion Glioma mate-paired sequence 20126413 chr4 62191591 126940390 Deletion Myelodysplastic syndrome - 21251322 chr4 62192393 62192493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6223334 6223460 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 62291711 62369539 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 62299229 62352939 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 62299229 62356679 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 62313802 62356679 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 62354238 63436594 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 62454626 62454721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 62469933 62470334 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6248249 6248349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 62528021 62528121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 625316 647212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 62531874 62531874 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr4 62540508 62568684 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 62600604 62600704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 62600797 62600890 Gain and loss Pancreatic cancer SNP array 17952125 chr4 62600797 62600891 Gain and loss Pancreatic cancer SNP array 17952125 chr4 62668446 62668536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 62718819 62718865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 627533 632264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 62777093 62777185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 62800144 62800533 Gain and loss Pancreatic cancer SNP array 17952125 chr4 62879598 62903695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 6295001 6674500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 62982201 62985900 Deletion Glioma mate-paired sequence 20126413 chr4 62983049 62983305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 62983780 62984263 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 62992079 62992566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 63026724 63026832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6319749 6409093 Gain and loss Pancreatic cancer SNP array 17952125 chr4 63208238 64314017 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 6321628 6441537 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr4 63219668 63221535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6322478 6355893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6322478 6355893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 63234683 63234736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 632501 648500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 63261053 63261153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63267552 63351723 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr4 63352021 63358715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 63352170 63357704 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 chr4 63352170 63357704 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 chr4 63352170 63357704 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr4 63352170 63357704 Deletion Non-syndromic sensorineural hearing loss 370K1,370K2,610K 19587683 chr4 63352531 63354257 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 63354510 63357704 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 chr4 63355001 63356500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 63360291 63817276 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr4 63365139 63367107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 63365139 63367107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 63407340 63407419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63414817 63414917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63460394 63505077 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 63476257 63476347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63485444 63532074 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 63503731 63503792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 63511310 63513278 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6351960 6352003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63637780 63669342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 63642 401556 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 63650951 63791168 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 63653595 63791168 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 63660106 63660206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63711139 63711207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 63713452 63713617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 63714782 63715153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6373205 6525227 Gain or loss Breast cancer - 20668451 chr4 6373205 6525227 Gain or loss Cancer - 20668451 chr4 6373205 6525227 Gain or loss Lung cancer - 20668451 chr4 6373205 6525227 Gain or loss Ovarian cancer - 20668451 chr4 6373205 6525227 Gain or loss Pancreas cancer - 20668451 chr4 6373205 6525227 Gain or loss Prostate cancer - 20668451 chr4 6373214 6525227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6373214 6525227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6376638 6410103 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 63777073 63777133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63780739 63781058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 63784971 63785071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63806446 63806557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63807577 63807692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 63816904 63837131 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 63820936 63833261 Loss Autism qPCR 20531469 chr4 63892950 63893203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6389649 6423064 Gain and loss Pancreatic cancer SNP array 17952125 chr4 63980129 64817397 LOH Normal High-resolution SNP genotyping 21211785 chr4 63980129 64833754 LOH Normal High-resolution SNP genotyping 21211785 chr4 64043081 64043181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64125128 64125465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 64172981 65120135 LOH Normal High-resolution SNP genotyping 21211785 chr4 64183121 64183221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64305486 64305565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 643083 643183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64370156 64380064 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 64371018 64398971 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 64371018 64398971 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 64376523 64390841 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 64376524 64399013 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 64376524 64399013 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 64376535 64390853 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 64376924 64396974 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 64380052 64390841 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 64380052 64390841 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 64380052 64390841 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 64380052 64399014 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 64380052 64408099 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 64380064 64386888 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 64380100 64390841 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 64380191 64389207 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr4 64380316 64390841 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 64386888 64390818 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 64390818 64400638 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 64396327 64401326 Loss Normal TaqMan assays 20972442 chr4 6440378 6592082 Gain and loss Pancreatic cancer SNP array 17952125 chr4 64407199 64407299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64464301 64469100 Deletion Glioma mate-paired sequence 20126413 chr4 64466180 64467149 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 64470241 64470341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64563049 64563149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64563177 64563277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64630760 64630860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64698011 64708420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 64719771 64719871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6473052 6473759 Gain and loss Pancreatic cancer SNP array 17952125 chr4 64777701 64782300 Deletion Glioma mate-paired sequence 20126413 chr4 64779695 64780428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 64826018 64957773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 64826018 64957773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 64839963 66940055 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 64846724 64846824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 648501 651500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 64882039 64882368 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 64918291 65128774 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 64933390 64933490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64936544 64944818 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 64949276 64949376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64952445 64952576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64961117 64961177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 64972798 65767008 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 65011960 66576307 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 65041097 65041197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 65074807 68777792 Duplication Depressive disorder Perlegen 600K platform 21152026 chr4 6510000 7090000 Gain Breast cancer aCGH 21509527 chr4 651101 654800 Deletion Glioma mate-paired sequence 20126413 chr4 65121424 65167702 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 65125995 65195793 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 65134201 65198054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 65147586 65196159 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 651501 658500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 65150448 65150533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 65155879 65155946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 65155949 65156011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 65157149 65157217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 65159223 65159288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 65159622 65159685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6518022 6551655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 65216747 65216985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 65302050 65302117 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65302120 65302182 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65303320 65303388 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65305394 65305459 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65305793 65305856 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65401671 65402157 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 65407967 65428867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 65415503 65842599 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 654344 654760 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 65470348 65470448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 65470355 66235534 LOH Normal High-resolution SNP genotyping 21211785 chr4 65501382 65501477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 65502335 65523782 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 65578799 66861924 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 chr4 656225 658122 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 656226 658098 Gain and loss Pancreatic cancer SNP array 17952125 chr4 656228 658122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 656228 658122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 65641984 65642084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6565679 6764292 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr4 65693652 65693752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 65765265 65765345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 65769972 65988941 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 65774899 65819556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 65799257 65799357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 658292 665816 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65841111 65841737 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65843018 65843103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 658501 673000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 65852394 65852479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 65853924 65854273 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65872240 66218104 Copy number Lung cancer - 20668451 chr4 65872240 66218104 Gain or loss Breast cancer - 20668451 chr4 65872240 66218104 Gain or loss Cancer - 20668451 chr4 65872240 66218104 Gain or loss Lung cancer - 20668451 chr4 65872240 66218104 Gain or loss Ovarian cancer - 20668451 chr4 65872240 66218104 Gain or loss Pancreas cancer - 20668451 chr4 65872240 66218104 Gain or loss Prostate cancer - 20668451 chr4 65872241 66218104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 65872241 66218104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 65872292 65876867 Gain and loss Pancreatic cancer SNP array 17952125 chr4 65984846 65984946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66002370 68210200 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 66014048 66364275 Gain and loss Pancreatic cancer SNP array 17952125 chr4 66015936 66018779 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 66059589 92117589 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr4 66103905 66104142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6613368 6635126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 66152401 66152401 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 661711 665817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 661711 665817 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 661711 665817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 66268187 66294662 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 6627803 6675089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6627803 6675089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 66300000 70400000 Absence of gene Graft versus host disease - 20877625 chr4 66300000 70400000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr4 66300000 70400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 66300000 70400000 Deletion Normal - 21851588 chr4 66300000 70400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 66300000 70400000 Gain Normal - 21851588 chr4 66300000 70400000 Presence of gene Osteoporosis - 20877625 chr4 66300000 99100000 Deletion Normal - 21541734 chr4 66323705 66324015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 66342686 66343741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 66355551 66355748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 66367510 66367610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66398104 66398204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66434921 66435021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66437971 66438250 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 66471735 66471834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66485479 66488419 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 66491962 66492052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66501728 66501919 Gain and loss Pancreatic cancer SNP array 17952125 chr4 66501735 66501919 Gain and loss Pancreatic cancer SNP array 17952125 chr4 66521854 66632070 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr4 665614 673127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 665614 673127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 665618 672973 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 665619 673062 Gain and loss Pancreatic cancer SNP array 17952125 chr4 66600000 70500000 Copy number Osteoporosis Affymetrix Human Mapping 500K Array, electrophoresis and real-time PCR 18992858 chr4 66600000 70500000 Copy number Osteoporosis References 19737800 chr4 66600000 76300000 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr4 66613695 66613764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 66633153 66678410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 66664616 66664694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66667280 66667380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66685836 66940055 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 66711625 66711725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6674501 6836500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 66750570 66750720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66759866 66759935 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6676573 6676662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66788628 66788999 Gain and loss Pancreatic cancer SNP array 17952125 chr4 66800285 66800403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 66825137 66825241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 66844985 66845073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 66923549 66923649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6692719 6695357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6692719 6695357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6694974 6742260 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6699063 6699133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6700 15987 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 6701001 6705500 Deletion Glioma mate-paired sequence 20126413 chr4 6702490 6703808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 67047864 68997394 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 67047864 68997394 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 67063196 67075558 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 67088161 67088255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67088190 67088290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67106397 67106617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67106476 67106603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67106640 67106808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67106641 67106695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6716960 6717060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 6717524 6717612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67175879 67175958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67194544 67194644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67220527 67220843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6726072 6728674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6726072 6728674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6728308 6772593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 673001 764500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 6733295 6736762 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6746467 6749798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6746467 6749798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 67469530 67469630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67547137 67592378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 67559341 67574826 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 67559341 67581830 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 67562638 67586756 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 67567353 67581830 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 67567353 67586756 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 67573373 67602242 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 6759890 6762529 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6760338 6762505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6760338 6762505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 67667140 67697482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 6768743 6770288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6768743 6770288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 67745841 67764634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 67755730 67755813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67779027 67779232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67789727 68417898 LOH Normal High-resolution SNP genotyping 21211785 chr4 67843839 67843928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67860174 67860273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67885485 67885585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67892306 67892406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 67928501 67930000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 6793250 6795845 Gain and loss Pancreatic cancer SNP array 17952125 chr4 67939417 67967665 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 67946501 67949500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 67977904 67978067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68020584 68099114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68020584 68099114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68035530 68036573 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 68061239 68061329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68107041 68155650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68107041 68155650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6811854 6812261 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68124076 68124238 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6812868 6816968 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68137226 70565651 LOH Normal High-resolution SNP genotyping 21211785 chr4 68164077 68249484 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68164077 68249484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68166962 68239995 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68203723 68203807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68221763 68221956 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 68227529 68610480 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 68253212 68301377 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68264688 68265701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6827507 6829676 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68285693 68304399 Gain or loss Breast cancer - 20668451 chr4 68285693 68304399 Gain or loss Cancer - 20668451 chr4 68285693 68304399 Gain or loss Lung cancer - 20668451 chr4 68285693 68304399 Gain or loss Ovarian cancer - 20668451 chr4 68285693 68304399 Gain or loss Pancreas cancer - 20668451 chr4 68285693 68304399 Gain or loss Prostate cancer - 20668451 chr4 68285701 68304399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68285701 68304399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68295549 68295699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68300723 70219426 Deletion Glioblastoma multiforme 244K oligo array 21138945 chr4 68311294 68395624 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6835360 6936798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6835360 6936798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 6835914 6837459 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68369196 68432311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68369196 68432311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68411200 68411863 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68434964 68450570 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68441721 68441870 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68441742 68441870 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68457704 68511739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68457704 68511739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68503732 68503832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68516639 68578478 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68552208 68552314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68555774 68555843 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr4 68586857 68587963 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68586857 68587963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68601511 68678182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68601511 68678182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68604785 68657998 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68605772 68842130 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 68608907 68611610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68608907 68611610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68611051 68611099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68619630 70391165 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 686442 686541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68698379 68698485 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68719488 68719808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 68733037 68733363 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68733541 68734134 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68746280 68752227 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 68747682 68824353 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68755234 68755334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68774967 68794004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68774967 68794004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68790501 68790724 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 68797839 70333311 LOH Normal - 20944671 chr4 68857271 68857371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68858700 68898419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68858700 68898419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68875403 68910386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 6889501 6890500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 68901239 69688431 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr4 68909443 69021159 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68909443 69168574 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68909443 69234339 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68909443 69485755 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68909443 69512426 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68916501 68936500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 68921138 68940175 Gain and loss Pancreatic cancer SNP array 17952125 chr4 68924567 68924964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 68924567 68924964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68936220 68936275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68936501 69568000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 68937665 69234339 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68937665 69378740 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68939354 69211554 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68939354 69378740 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68944349 68944433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68944603 68944781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 68944769 68944991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 689573 754258 Gain and loss Pancreatic cancer SNP array 17952125 chr4 689573 754428 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 689573 754428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68964800 68970737 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 68964800 68970737 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 68964800 69049737 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 68966876 69572080 Copy number Alcoholism Illumina Human Hap679W-Quad BeadChip 21790672 chr4 68966876 69572080 Copy number Normal - 21790672 chr4 68967175 69222607 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 68970721 69168562 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 68977382 69102700 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 68977382 69168562 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 68977382 69171918 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 68977382 69171918 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 68977382 69187698 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 68978751 69495759 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 68980297 69150305 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr4 68981712 69401490 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 68983198 69834906 Copy number Lung cancer paired-end sequencing 18438408 chr4 68995762 69045917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 68998845 69296476 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr4 68998845 69296476 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 68998845 69803613 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 68999034 69222608 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69007804 69044573 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6902539 7003962 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69027195 69168562 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69027195 69171918 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 69027195 69171918 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69027195 69171918 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69027195 69518358 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69027196 69378727 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 69027207 69168574 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69030000 69150000 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 chr4 6903240 6903579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69033919 69034059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69034043 69176534 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 69043083 69168574 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69043083 69168574 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 69043083 69168574 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 69043083 69204004 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69043083 69234339 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69043083 69408681 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69043083 69477123 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69043083 69617078 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69047456 69216088 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 chr4 69049455 69237384 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr4 69050566 69176534 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 69050566 69176534 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 69054586 69130271 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69054586 69168562 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69054586 69168562 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69054586 69171918 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69054586 69171918 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69054586 69171918 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69054586 69187698 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69054586 69187698 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69054586 69203992 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69054586 69203992 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69054586 69222608 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69054586 69222608 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69054586 69222608 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69054586 69475447 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69054586 69475447 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69054586 69592854 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69054586 69592854 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69054586 69592854 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69054598 69187710 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69054922 69225094 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 69056055 69170240 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 chr4 69056498 69174401 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr4 69057524 69164305 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69057524 69164305 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057524 69166692 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69057524 69168423 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057524 69168562 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69057524 69168562 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057524 69168562 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69057524 69171918 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69057524 69171918 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69057524 69171918 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057524 69171918 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69057524 69187698 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69057524 69187698 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057524 69187698 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69057524 69203992 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69057524 69203992 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057524 69222608 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69057524 69222608 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057524 69475447 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057536 69187710 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69057735 69165814 Duplication or deletion Rett syndrome References 21593744 chr4 69057735 69165872 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr4 69057755 69168574 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 69057931 69109071 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69057931 69166692 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 69057931 69166692 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057931 69168562 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 69057931 69168562 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057931 69168562 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69057931 69171918 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 69057931 69171918 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057931 69187698 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 69057931 69187698 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69057931 69475447 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 69069451 69166014 Copy number Incontinentia Pigmenti Agilent SurePrint G7 one Million microarrays 22033527 chr4 69069451 69166014 Deletion Oligozoospermia Array-CGH 20877625 chr4 69069451 69166014 Deletion Sertoli-cell only syndrome Array-CGH 20877625 chr4 69069451 69166014 Duplication Oligozoospermia Array-CGH 20877625 chr4 69069451 69166014 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chr4 69070807 69070992 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69072875 69187698 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69072875 69203992 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69072875 69203992 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69072875 69222608 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69072875 69475447 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69074397 69187698 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69074397 69187698 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69074397 69203992 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69074397 69203992 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69074397 69222608 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69074397 69475447 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69074397 69475447 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69074697 69187698 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69074697 69222608 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 69074697 69475447 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69075001 69230647 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69075001 69296476 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69075001 69803613 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69075001 69892781 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69075001 70146696 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69075001 70167250 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69075001 70439215 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69075001 70448849 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69078507 69203992 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69078507 69222608 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 69078507 69578084 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69081437 69081537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69085413 69165843 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr4 69085497 69116840 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr4 69085500 69116840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 69085500 69116840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69085567 69211971 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr4 69085567 69216360 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr4 69109031 69119218 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69109031 69171918 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69118485 69140521 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69126340 69163188 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr4 69126340 69173198 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr4 69126468 69296476 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69126468 69803613 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69126468 69892781 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69126468 70146696 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69131617 69162697 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 69132783 69132867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69141966 69192088 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69155461 69187698 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69168574 69171930 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 69171930 69204004 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 69187657 69187757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69193035 69193120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69194911 69218969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69203523 69319735 Loss Normal 244K array 17666407 chr4 6922501 6931000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 6923165 6923454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69231671 69263011 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69266893 69266978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69292078 69298326 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69310017 69319707 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr4 69314275 69314575 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69315652 69315994 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69339544 69339834 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69341123 69365112 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69370419 69371012 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69371230 69502640 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 chr4 69378740 69518370 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 6938501 7154500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 69385732 69386014 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6945739 6946948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 6946083 6951471 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 6946401 6952900 Deletion Glioma mate-paired sequence 20126413 chr4 69465108 69515259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 69465108 69515259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69510705 69570209 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 69535158 69535238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69540108 69540293 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69546933 69570979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 69546933 69570979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69568001 69586250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 69570209 70554249 LOH Normal High-resolution SNP genotyping 21211785 chr4 69608223 82557471 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 69611312 69661430 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6962473 7085742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 6962473 7085742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69632527 69632879 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 69649562 69729899 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69690144 69729899 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 69693145 69717150 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6969594 6971545 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69713484 69751804 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 69716291 69751574 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 69716291 69751574 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 69716302 69731503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 69716302 69731503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 697254 697308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 69745830 70448849 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69802331 69802384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 69805954 69806229 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69806248 69806397 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69815229 69815507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69825445 69825764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 69828756 69852093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 69828756 69852093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69829875 69829975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69851531 190251128 Copy number Lung cancer paired-end sequencing 18438408 chr4 69862489 69877380 Gain and loss Pancreatic cancer SNP array 17952125 chr4 6990336 6990625 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69904925 70115031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 69904925 70115031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69905135 70115054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69945259 69990875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 6994664 7033701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 69948132 69948222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 69956171 70439215 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69956171 70448849 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69956171 70594932 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 69974927 69998264 Gain and loss Pancreatic cancer SNP array 17952125 chr4 69994431 69994754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 69996781 70013294 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr4 69996814 70013293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 69996814 70013293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 69997250 70448849 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 70005331 70006191 Loss Normal aCGH 21627829 chr4 70038599 70080939 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 70051096 70261202 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70052484 70328860 Gain Normal aCGH 21627829 chr4 70057584 70063155 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr4 70082033 70082595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70093043 70126667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7010042 7010134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70100635 70115029 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr4 70110461 70439215 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 70110461 70448849 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 70110461 70448849 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 70110461 70594932 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 70131239 70294512 Loss Normal aCGH 21627829 chr4 70142953 70159314 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70151531 70264011 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70153744 70448849 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 70155288 70266701 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70155288 70274566 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70155482 70266713 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70155819 70267475 Gain or loss Normal aCGH 21627829 chr4 70155839 70266388 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70155841 70322410 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 70155852 70266713 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70158087 70263233 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70158087 70264011 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70158087 70264011 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70158087 70264011 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70158087 70266376 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70158087 70266701 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70158087 70266701 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70158087 70266701 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70158087 70274566 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70158087 70274566 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70158099 70162232 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 70162221 70259427 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70162221 70261476 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70162221 70264011 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70162221 70264011 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70162221 70264011 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70162221 70266376 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70162221 70266376 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70162221 70266701 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70162221 70266701 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70162221 70266701 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70162221 70266701 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70162221 70270728 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70162221 70270728 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70162221 70273685 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70162221 70273685 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70162221 70274566 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70162221 70274566 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70162221 70277485 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70162233 70263941 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70162233 70264023 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70162233 70266388 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70162233 70270740 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70162233 70273689 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 70162233 70273689 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 70162241 70264023 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70162241 70266388 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70162989 70261476 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70162989 70263233 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70162989 70266376 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70162989 70266701 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70163001 70266388 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70165397 70266376 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70165397 70266701 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70165923 70266376 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70165923 70266599 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70169257 70264011 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70169257 70274566 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 70169257 70274566 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70172534 70261476 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 70172534 70277485 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 70177951 70266701 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70180806 70195356 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70180806 70195356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70183466 70266388 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 70183990 70264889 Loss Normal aCGH 21627829 chr4 70188483 70296201 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr4 70218651 70218744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70228204 70228766 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7024949 7033235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 70257618 70258618 Gain Chronic lymphocytic leukemia References 21215367 chr4 70261129 70262129 Gain Chronic lymphocytic leukemia References 21215367 chr4 70273689 70273690 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 70273690 70287005 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 70287005 70298973 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 70289798 70296132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70295149 70312547 Loss Normal aCGH 21627829 chr4 7029644 7152910 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70298288 70432262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 70305890 70354107 Gain Normal 244K array 17666407 chr4 70311158 70323496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70326970 70469667 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70331168 70331342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70334654 70446610 Loss Normal 244K array 17666407 chr4 70334817 70334917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70340906 70341006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70364839 70635781 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 70364839 71900310 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 70380473 70396215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70380473 70396215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70400000 76500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 70400000 76500000 Deletion Abnormal phenotypes Array-CGH 18644119 chr4 70400000 76500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 70400000 94000000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 chr4 70402089 70405172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 70413455 70413666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70462631 70462714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70467088 70683146 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 70477339 70477513 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70488724 70548007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70488724 70548007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70495198 70495298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7049640 7049956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70500000 76300000 Deletion Multiple myeloma CGH, Real-Time PCR 17077331 chr4 70500000 76300000 Loss Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr4 70500000 78900000 Loss and deletion Multiple myeloma Array CGH 16616336 chr4 70501386 70508909 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 70504141 70504241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70511010 191091333 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr4 70514173 70514273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70526645 70542383 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70547247 84066553 Microdeletion delayed speech array-CGH 20522426 chr4 70547247 84066553 Microdeletion growth disorder array-CGH 20522426 chr4 70547247 84066553 Microdeletion Mental retardation array-CGH 20522426 chr4 70565651 71084680 LOH Normal High-resolution SNP genotyping 21211785 chr4 70570466 70570566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70596677 71297535 LOH Normal High-resolution SNP genotyping 21211785 chr4 70603967 70604067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70616027 70616127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70625228 70666310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 70627277 70661019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70627277 70661019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70635733 70694178 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70636672 70757960 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 70639659 70684855 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 70640480 70664493 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 70646331 70655098 Loss or gain Normal 244K array 17666407 chr4 70687588 73112243 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 70705383 70705478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70723660 70723760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70726718 70726803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70736712 70763733 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 70741520 70760459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70741520 70760459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70773448 70807190 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70803235 71301860 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 70811013 70811158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70831388 70846877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70831388 70846877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70855564 70861315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70855564 70861315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70874599 70874699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70887696 70906630 Gain and loss Pancreatic cancer SNP array 17952125 chr4 70896237 70902760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70896237 70902760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70919397 70919482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 70928761 70936834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 70928761 70936834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70930556 70930641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7093477 7095567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 7093477 7095567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7093477 7095629 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 70949326 70951022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 70949406 90168373 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr4 70950748 70959145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7096057 7110580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 70977559 70993048 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71001735 71007486 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71042446 71048928 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71043331 71043431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71048317 71048417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71054493 71079084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71054493 71079084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7106220 7387973 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 71091746 72361507 LOH Normal High-resolution SNP genotyping 21211785 chr4 71096833 71104881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71096833 71104881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71096919 71105318 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71119895 71144719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 71126377 71135553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71126377 71135553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71126403 71135557 Deletion Intellectual disability 100k SNP Array 21811512 chr4 71126403 71135557 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr4 7112683 7120701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 7112683 7120701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71138927 71171760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 71142582 71142775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 71142894 71151732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71142894 71151732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7116811 7117125 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7116811 7117127 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71190450 71190547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71193379 71193479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71200716 71211502 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7121727 7121826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71223258 71224258 Loss Chronic lymphocytic leukemia References 21215367 chr4 7122837 7122927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71229595 71238968 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr4 71235260 71237421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71235260 71237421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71244592 71251045 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71245429 71247064 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 71261082 71267412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71261082 71267412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71262854 71264215 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 71264215 71283637 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 71272548 71281724 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71283384 71290548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71283384 71290548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71283637 71285358 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 71289065 71297903 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71290398 71290498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71298187 71310503 Deletion Intellectual disability 100k SNP Array 21811512 chr4 71298188 71310496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71298188 71310496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71370345 71370445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71372525 71383302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71372525 71383302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71381458 71383592 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71382378 71382478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7140001 7140101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71407261 71413569 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7140929 7141014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71416610 71416710 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 71418887 71433048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71418887 71433048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71429618 71436723 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71444453 71456671 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71452789 71454687 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 7148184 7818626 Duplication Intellectual disability Array CGH 22102821 chr4 71492582 71507591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71492582 71507591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71503883 72575722 LOH Normal High-resolution SNP genotyping 21211785 chr4 71514142 71515207 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71518442 71525441 Loss Normal TaqMan assays 20972442 chr4 71518696 71529473 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71528873 71716513 Copy number Parkinson disease PennCNV and QuantiSNP 21829596 chr4 7153584 7198302 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7154501 7244000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 71551745 71551839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71565058 71579219 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7161070 7162737 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71630325 71664127 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7163356 7176440 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71638753 71653762 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7164711 7165027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7169389 7274060 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 71713325 71731405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71713325 71731405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 717187 757889 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 71740131 71751114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71740131 71751114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71752087 71752187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71773098 71775132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71773098 71775132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71786336 71786439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71787599 71787704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7179852 7187872 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71806560 71891789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71806560 71891789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71859264 71896627 Copy number Insulin resistance Affymetrix Genome-Wide Human SNP 6.0 Array 21901158 chr4 71860253 71875607 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71874143 71874438 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 71886719 71897299 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71896827 71896925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71900368 71924408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71900368 71924408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71917796 71917896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 71919269 71921303 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71932507 71932610 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71932720 71932794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71933773 71933875 Gain and loss Pancreatic cancer SNP array 17952125 chr4 71936711 71936821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 71951418 71985281 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 71952731 72024302 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7197050 7200648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 719829 721544 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 71986927 72072755 Gain or loss Breast cancer - 20668451 chr4 71986927 72072755 Gain or loss Cancer - 20668451 chr4 71986927 72072755 Gain or loss Lung cancer - 20668451 chr4 71986927 72072755 Gain or loss Ovarian cancer - 20668451 chr4 71986927 72072755 Gain or loss Pancreas cancer - 20668451 chr4 71986927 72072755 Gain or loss Prostate cancer - 20668451 chr4 71986928 72072755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 71986928 72072755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 72042998 72043096 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72050285 72070579 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72068918 72104089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 72078218 72115491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 72078218 72115491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 72078891 72078965 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72082882 72082992 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72133099 72218926 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72145070 72871733 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr4 72145277 72145436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 72164818 72167328 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 72167168 72915689 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 72189248 72189348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72204464 72204596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72204816 72437800 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 72224427 72261648 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72271867 72656663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 72271867 72656663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 72298381 72298451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72300098 72300183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72313669 72313769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7231887 7232198 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7231959 7232198 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7233661 7233739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72398699 72398799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72401481 72401581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72418038 72802834 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72427228 72427328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7244001 7397500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 7245274 7795464 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 7245275 7795463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 7245275 7795463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 72460098 80491871 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr4 72465034 72557101 Copy number Lung cancer paired-end sequencing 18438408 chr4 72527761 72527861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72536612 72581509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7254792 7254877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72571468 74750831 Copy number Lung cancer paired-end sequencing 18438408 chr4 72591475 72624236 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7259404 7259486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72646220 73901749 LOH Normal High-resolution SNP genotyping 21211785 chr4 72652676 75999993 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr4 72705277 72812456 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr4 72710450 72710531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 727167 7256663 Copy number Autism exome sequencing 22495311 chr4 72740483 72740583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72749555 72794982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 72779489 72779564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72826296 72868798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 72826296 72868798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 72844099 72844197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 72844103 72844197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 72962402 72962497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72970523 72970716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72970715 72970865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 72972448 73014923 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72982930 74082673 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 72990274 72990368 Gain and loss Pancreatic cancer SNP array 17952125 chr4 72994856 72994889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73004565 73004888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 73021091 73021191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73048491 73048819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 73053096 73747561 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 73064 3533794 Copy number Lung cancer paired-end sequencing 18438408 chr4 7308436 7308540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 73093569 73129192 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 73116384 73237614 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr4 73116385 73232642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 73116385 73232642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7312446 7862634 Gain and loss Pancreatic cancer SNP array 17952125 chr4 73129101 100030402 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 73129192 73796111 LOH Normal High-resolution SNP genotyping 21211785 chr4 73143096 73143196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73146686 73434517 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 73165369 73165545 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 73262556 73378813 Gain and loss Pancreatic cancer SNP array 17952125 chr4 73289138 73289208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73315126 73315187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73358981 73359081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73365382 73365914 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 73365551 73653380 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 73365551 73653380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 73365551 73653380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 73428885 73428985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7343268 7388129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 73511722 73799551 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7354374 7354469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73637623 73637710 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr4 73639126 73644771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 73649858 73654476 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 73759292 73759381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73770929 73799295 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 73889588 73889671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 73889941 73890032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7389047 7389270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 7389161 7389384 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 73957079 73957179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7397501 7434000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 74017903 74240742 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 74049759 74049886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74050113 74050684 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 74074248 75253562 LOH Normal High-resolution SNP genotyping 21211785 chr4 74095501 74097000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 7410708 7410808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74111329 74111454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74128074 74128169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74139280 74154336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74139280 74154336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74159369 74343366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74159369 74343366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74159477 74262083 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr4 7416007 7416642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 74188425 74188511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74195930 74196057 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74224584 74257528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 74251172 74251272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74257500 74257624 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74286839 74300457 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74305540 74489420 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74334596 74334682 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7434001 7445500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 74348541 74348665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7445501 7472500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 74465243 74465282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74488870 74505996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74488870 74505996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74493616 74518037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 74504401 74504484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74504727 74504827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 745166 745258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74520744 74540358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74520744 74540358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74531607 74532881 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 74533723 77616609 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 74536267 74654547 Gain aortic dissecting aneurysms Array-CGH 22263138 chr4 74541247 75848150 LOH Normal High-resolution SNP genotyping 21211785 chr4 74566326 74588582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74566326 74588582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74597304 74597398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74606368 74607739 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 74628449 74628549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74635039 74652167 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74655918 74698262 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 74657024 74705151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74657024 74705151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74666968 74686527 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74671532 76270100 Gain Breast cancer 244K CGH oligonucleotide microarrays 20932292 chr4 74676713 74676811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74685117 74685217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74706114 74714095 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 74708135 76578274 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 74712497 74734753 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7472501 7487500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 74735108 74736954 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 74766004 74898636 Copy number Lung cancer paired-end sequencing 18438408 chr4 7477838 7492223 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 74803897 74851375 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74808546 74808639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74808801 74808991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74825122 74828295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74825122 74828295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7484889 7486884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74862997 74864447 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 74865293 74865393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7487501 7505500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 74879444 74879582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74913598 74956771 Copy number Lung cancer paired-end sequencing 18438408 chr4 74921277 74923340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74921277 74923340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74933819 74933919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 74937877 74939062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 74937877 74939062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74953973 74968249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74954717 74954810 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74954972 74955162 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74962800 74964893 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 74966515 74966676 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 74970911 75135516 Copy number Lung cancer paired-end sequencing 18438408 chr4 74971310 74974466 Gain and loss Pancreatic cancer SNP array 17952125 chr4 74989027 74989116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 74998947 74999041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 75028129 75028229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7505501 7513000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 75055582 75087307 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7506126 7508391 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr4 75065510 75168813 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 75065659 75066541 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr4 75065660 75066541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 75065660 75066541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75067448 75069511 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75071622 75072764 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 75071622 75072764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75080222 75083280 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr4 75080224 75083286 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 75080224 75083286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 75080224 75083286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75083552 75182109 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr4 75084048 75085236 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75086894 75086994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 75096159 75096460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75096163 75096457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75100144 75114420 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75121178 75123354 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 75121178 75123354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 75121178 75123354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7513001 7601500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 75135198 75135287 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75139075 75139395 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 75149884 93844521 Copy number Lung cancer paired-end sequencing 18438408 chr4 75161167 75164358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 75169527 75183874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 75169527 75183874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75201851 75201896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 75207855 75387673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 75207855 75387673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75211831 75212712 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75217793 75218935 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75226395 75229451 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75233215 75234075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 75242334 75242628 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75267349 75269441 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75285246 75285566 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75290591 75307895 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 7530016 7530051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 75307446 75310209 Loss Normal 244K array 17666407 chr4 75327791 75329947 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7534699 7535012 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr4 75356190 75533350 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75388362 75389120 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75393068 75398162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 75393068 75398162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75422053 75422469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 75449723 75473341 Gain or loss Breast cancer - 20668451 chr4 75449723 75473341 Gain or loss Cancer - 20668451 chr4 75449723 75473341 Gain or loss Lung cancer - 20668451 chr4 75449723 75473341 Gain or loss Ovarian cancer - 20668451 chr4 75449723 75473341 Gain or loss Pancreas cancer - 20668451 chr4 75449723 75473341 Gain or loss Prostate cancer - 20668451 chr4 75449724 75473341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 75449724 75473341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7547532 7550603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 7547757 7560449 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 75480271 75547670 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 7552060 7554055 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75529715 75539590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75529716 75709509 Gain or loss Breast cancer - 20668451 chr4 75529716 75709509 Gain or loss Cancer - 20668451 chr4 75529716 75709509 Gain or loss Lung cancer - 20668451 chr4 75529716 75709509 Gain or loss Ovarian cancer - 20668451 chr4 75529716 75709509 Gain or loss Pancreas cancer - 20668451 chr4 75529716 75709509 Gain or loss Prostate cancer - 20668451 chr4 75539853 75545371 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75546045 75546145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 75595895 75619512 Gain and loss Pancreatic cancer SNP array 17952125 chr4 756 1418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 75675888 75685762 Gain and loss Pancreatic cancer SNP array 17952125 chr4 75699863 75709510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 75699863 75709510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75715179 75715270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 7575326 7575570 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr4 7575349 7575592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 75857294 75857394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 75859901 75869000 Deletion Glioma mate-paired sequence 20126413 chr4 75888993 75938920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 75888993 75938920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 75890471 75938906 Gain or loss Breast cancer - 20668451 chr4 75890471 75938906 Gain or loss Cancer - 20668451 chr4 75890471 75938906 Gain or loss Lung cancer - 20668451 chr4 75890471 75938906 Gain or loss Ovarian cancer - 20668451 chr4 75890471 75938906 Gain or loss Pancreas cancer - 20668451 chr4 75890471 75938906 Gain or loss Prostate cancer - 20668451 chr4 75936632 191091333 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr4 75968606 76012857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7597444 7597539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 75976019 76021342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 75976755 76013405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 75986226 76018212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 75987032 76019300 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 75994249 76011312 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 75996211 76028938 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 76004054 76005070 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7601501 7726500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 76027156 76076866 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76077001 76078500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 76077322 76194347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 76077322 76194347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76077557 85788996 Microdeletion delayed speech array-CGH 20522426 chr4 76077557 85788996 Microdeletion growth disorder array-CGH 20522426 chr4 76077557 85788996 Microdeletion Mental retardation array-CGH 20522426 chr4 76111520 76111881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76131129 76131229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7615436 7615536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 761587 1014752 Gain Normal Illumina 300K SNP 19997636 chr4 76248 3542561 Copy number Lung cancer paired-end sequencing 18438408 chr4 76249675 76250036 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76251171 76251271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 76273724 77038236 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr4 76294813 76295506 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76300000 101100000 Loss Autism References 18414403 chr4 76300000 88000000 Amplification Hepatocellular carcinoma Array CGH 16750200 chr4 76300000 88000000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 76300000 88000000 Loss Autism References 18414403 chr4 7635087 7635264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76359341 76359410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 764421 764521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 764501 780000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 764588 765632 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 764649 765053 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76500000 79200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 76553068 76585641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 76580182 76580261 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 7660664 7660729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 76623381 76658652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 76623381 76658652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76658678 76674260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 76658678 76674260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76698698 76699007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 76700297 76710105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 76700297 76710105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76720728 76774745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 76720728 76774745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76745028 76745128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 76762039 76796790 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76763054 76763154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 76764645 76764842 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76786991 76817629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 76786991 76817629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76796862 76812413 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76806328 76806421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76838452 76848267 Gain and loss Pancreatic cancer SNP array 17952125 chr4 768576 809775 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76861530 76912750 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7686412 7686752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 76869028 76954388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 76869028 76954388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 768745 809945 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 768746 809945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 768746 809945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76907125 76907225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 76925146 76955784 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76944483 76944576 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76944489 76944576 Gain and loss Pancreatic cancer SNP array 17952125 chr4 76949115 83601083 Microdeletion delayed speech array-CGH 20522426 chr4 76949115 83601083 Microdeletion growth disorder array-CGH 20522426 chr4 76949115 83601083 Microdeletion Mental retardation array-CGH 20522426 chr4 76969578 76969766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 76993651 76993801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 76993709 76993808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77000052 77042705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77000052 77042705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77007183 77092543 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77014716 77015716 Loss Chronic lymphocytic leukemia References 21215367 chr4 7702258 7702435 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77026200 77026721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77030145 77031145 Gain Chronic lymphocytic leukemia References 21215367 chr4 77030147 77031147 Loss Chronic lymphocytic leukemia References 21215367 chr4 77030588 77059430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 77037605 77038605 Gain Chronic lymphocytic leukemia References 21215367 chr4 77038236 77365884 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr4 77040817 77041817 Gain Chronic lymphocytic leukemia References 21215367 chr4 77040842 77041842 Loss Chronic lymphocytic leukemia References 21215367 chr4 77042952 77043952 Gain Chronic lymphocytic leukemia References 21215367 chr4 77050833 77081190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77050833 77081190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77062625 77062685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77090083 77131137 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 77090083 77131137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77090083 77131137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77107770 77107921 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77107860 77107921 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77119931 77120020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77137860 77137960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77138207 77180860 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7714128 7714228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77141647 77147686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77141647 77147686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77161297 77163674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77161297 77163674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77164355 77164876 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77167593 77168071 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 77167593 77196804 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 77167634 77167901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 77173975 77176376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77173975 77176376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77174381 86773353 Microdeletion delayed speech array-CGH 20522426 chr4 77174381 86773353 Microdeletion growth disorder array-CGH 20522426 chr4 77174381 86773353 Microdeletion Mental retardation array-CGH 20522426 chr4 77193236 77219281 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77214887 77252964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77214887 77252964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77228248 77269173 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77229062 77235705 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77254842 77288679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77254842 77288679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7726501 7800500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 77279676 77285803 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7729478 7729604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 77298918 77354059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77298918 77354059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77299452 77301829 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77312130 77314531 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77315082 77315396 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77353042 77391119 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77354217 77423945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7735909 7736007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 77365884 77638924 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr4 773681 773834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 77392997 77426834 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77430702 77430745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77437073 77492214 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77437229 77437317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77446833 77451306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77446833 77451306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77453216 77547482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77453216 77547482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77485065 77485767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77496787 77496892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77508808 77511390 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 77530053 77561790 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77530586 77530665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77537253 77537353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77541071 81433140 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 77542253 77542323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77575277 77923430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 77575277 77923430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77584358 77588918 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77591340 77685637 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77600761 77600861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77621775 77774636 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 77622882 77623922 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77626058 77626158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77633424 77633563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77634943 77635047 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77636110 86139515 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 chr4 77638924 78021180 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr4 77659204 77659304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77665017 77672414 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 77668741 77668820 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77672399 77672504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 77676037 77676137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77680393 77680543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77680408 77680478 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77713432 78058121 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77775640 77775724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7777648 7777929 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chr4 77792639 78621403 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 77810554 77810659 Gain and loss Pancreatic cancer SNP array 17952125 chr4 77816530 77816609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77862005 77862105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 77902112 77902212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 7791044 7812871 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7797720 8171566 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 77995794 77995883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 780001 801500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 78001372 78012007 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 78001372 78012129 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 78001372 78012400 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 78001372 78012956 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 78001372 78014974 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 78001372 78019649 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 78001593 78006231 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 7800501 8012000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 7801305 7801370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78021180 78649172 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr4 78035645 78038026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 78035645 78038026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78089919 78178791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 78089919 78178791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78099038 78099340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7811341 7992553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 7811341 7992553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78173800 78176181 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78188203 78216152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 78188203 78216152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 7819158 7819227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78206609 78206684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 78222576 78222770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78228074 78316946 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78231880 78231980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 78237202 78237495 Gain and loss Pancreatic cancer SNP array 17952125 chr4 7825252 7955331 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr4 78252784 78253620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78290505 78290610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78297551 78325286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 78297551 78325286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78326358 78354304 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78345649 78345749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 78360731 78360925 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78391167 78391775 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78400000 155100000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr4 78400000 155100000 Loss Cancer array-based techniques 21183584 chr4 78400000 172200000 Gain primary effusion lymphomas CGH 17116491 chr4 78418246 78418297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78428660 78428750 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78428660 78428759 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78435706 78477303 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78455299 78455564 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78456651 78496549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78464649 78497850 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 78467969 78548064 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr4 78479293 78493932 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 78486955 78487495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78488347 78488749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78495579 78495583 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 78495583 78500367 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 78539799 78539888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78566499 78566589 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 78649172 78922212 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr4 78650104 78651104 Loss Chronic lymphocytic leukemia References 21215367 chr4 78651579 78652579 Gain Chronic lymphocytic leukemia References 21215367 chr4 78651930 78752010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 78651930 78752010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78684915 78685224 Loss Normal 244K array 17666407 chr4 78691769 80019104 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 78719403 80104088 LOH Normal High-resolution SNP genotyping 21211785 chr4 78725711 80470579 LOH Normal High-resolution SNP genotyping 21211785 chr4 78737114 78770420 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 7878513 8059657 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78790085 78890165 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78816902 79710346 LOH Normal High-resolution SNP genotyping 21211785 chr4 78842924 78842981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78853564 78959568 Copy number colon cancer References 22000013 chr4 78853565 78959574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 78853565 78959574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 78886619 78921745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 78900000 82400000 Loss Gastric cancer Array CGH 16891809 chr4 78900000 86900000 Gain Prostate cancer Array CGH 16573809 chr4 78900000 98800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 7897057 7898719 Gain and loss Pancreatic cancer SNP array 17952125 chr4 78995025 84459549 Microdeletion delayed speech array-CGH 20522426 chr4 78995025 84459549 Microdeletion growth disorder array-CGH 20522426 chr4 78995025 84459549 Microdeletion Mental retardation array-CGH 20522426 chr4 78995351 79054731 Gain and loss Pancreatic cancer SNP array 17952125 chr4 79002698 79092968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 79002698 79092968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 79072735 79072835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79105930 79347118 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr4 79141080 79231116 Gain and loss Pancreatic cancer SNP array 17952125 chr4 79144300 79144370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79159302 79159513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79197747 79684447 Copy number renal disease - 20603712 chr4 79198120 79684447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 79198120 79684447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 79200000 82600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 79200000 82600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 79200000 82600000 Gain Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 124 samples 21899760 chr4 79200179 79200256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79275401 79382547 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr4 79292526 79337884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 79304438 79304538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79308775 79320384 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 79322800 79322936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79322979 79323127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79328514 79328601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 79336313 79822601 Gain and loss Pancreatic cancer SNP array 17952125 chr4 79347625 79443850 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr4 79356589 79377227 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 79359180 79359280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79363579 93885334 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr4 79392793 79392893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79401527 79401597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79446822 79446922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79485858 79494562 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 79485858 79494562 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr4 79486101 79496100 Deletion Glioma mate-paired sequence 20126413 chr4 79488145 79494219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 7949148 7949408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 79518010 79519670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 79532845 79532940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79552329 79552384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 79609011 79641750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 79620064 79637914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 79622837 79639482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 79623705 79633946 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 79625369 79639050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 79691766 79750627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 79691766 79750627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 79717353 79750934 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 79734514 79734654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79765036 80546895 LOH Normal High-resolution SNP genotyping 21211785 chr4 79772451 79772563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 79780278 79780379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 79819069 79819169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 79830089 79888776 Gain and loss Pancreatic cancer SNP array 17952125 chr4 79910608 79910718 Gain and loss Pancreatic cancer SNP array 17952125 chr4 79910609 79910718 Gain and loss Pancreatic cancer SNP array 17952125 chr4 79916556 80052363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 79916556 80052363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 79918433 79918534 Gain and loss Pancreatic cancer SNP array 17952125 chr4 79934953 80880476 LOH Normal High-resolution SNP genotyping 21211785 chr4 79939894 80762301 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr4 79971661 80880476 LOH Normal High-resolution SNP genotyping 21211785 chr4 8000000 10210000 Amplification Sezary syndrome Array-based CGH 18413736 chr4 80027331 80079606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 80027331 80079606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 80039033 80039330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 80039034 80039332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 80054711 80157262 Gain and loss Pancreatic cancer SNP array 17952125 chr4 80103729 80207060 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr4 8012001 8059500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 801501 899000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 80165469 80217736 Gain and loss Pancreatic cancer SNP array 17952125 chr4 80177189 80177487 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8017937 8211459 Amplification or deletion Normal BAC aCGH 22315515 chr4 8018929 8211381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 80195990 82530576 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 chr4 80226572 80227572 Gain Chronic lymphocytic leukemia References 21215367 chr4 80226595 80227595 Loss Chronic lymphocytic leukemia References 21215367 chr4 80229416 80229516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 80287286 80288286 Loss Chronic lymphocytic leukemia References 21215367 chr4 80291307 80292307 Gain Chronic lymphocytic leukemia References 21215367 chr4 80291486 80292486 Gain Chronic lymphocytic leukemia References 21215367 chr4 80293316 80294316 Loss Chronic lymphocytic leukemia References 21215367 chr4 80293554 86615654 Microdeletion delayed speech array-CGH 20522426 chr4 80293554 86615654 Microdeletion growth disorder array-CGH 20522426 chr4 80293554 86615654 Microdeletion Mental retardation array-CGH 20522426 chr4 803114 857092 Gain Normal 244K array 17666407 chr4 80321174 80321274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 80360630 80362724 Deletion Cancer CGH 22183965 chr4 80360630 80362724 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 chr4 80422701 80427000 Deletion Glioma mate-paired sequence 20126413 chr4 80424753 80425080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 8043693 8043814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8044901 8049500 Deletion Glioma mate-paired sequence 20126413 chr4 80457298 80466195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8046695 8047793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 80467681 80468681 Loss Chronic lymphocytic leukemia References 21215367 chr4 80506144 80506444 Gain Chronic lymphocytic leukemia References 21215367 chr4 80506413 80507413 Loss Chronic lymphocytic leukemia References 21215367 chr4 80546538 80548471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 80546538 80548471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8057928 8058008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 80579653 80581746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 8058799 8060093 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8059501 8074000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 80595453 80604350 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8059647 8211459 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 80637655 81433140 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 80680979 80681079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 80684872 80686548 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8074001 8287500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 80788596 80788696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 80818696 80818771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 80825359 80826841 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 8085112 8278609 Gain and loss Pancreatic cancer SNP array 17952125 chr4 80883993 80884090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 80895227 80895327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 80915817 80915849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 80926692 84215893 Microdeletion delayed speech array-CGH 20522426 chr4 80926692 84215893 Microdeletion growth disorder array-CGH 20522426 chr4 80926692 84215893 Microdeletion Mental retardation array-CGH 20522426 chr4 8096400 9860900 Loss Prostate cancer Array CGH 18632612 chr4 80983280 80983406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 81045749 81213650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 81045749 81213650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 81105101 81114900 Deletion Glioma mate-paired sequence 20126413 chr4 81105841 81105942 Gain and loss Pancreatic cancer SNP array 17952125 chr4 81107071 81113115 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 81121435 81121560 Gain and loss Pancreatic cancer SNP array 17952125 chr4 81136558 81136658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81136694 81136897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81183904 81351419 Gain and loss Pancreatic cancer SNP array 17952125 chr4 81197116 81197283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 81219710 81221297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 81243889 81243968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8125099 8125179 Gain and loss Pancreatic cancer SNP array 17952125 chr4 81300000 83400000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr4 81305277 81305377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81313713 81314713 Gain Chronic lymphocytic leukemia References 21215367 chr4 81325448 81344504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 81325448 81344504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8137996 9269836 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr4 81406765 81431195 Gain or loss Breast cancer - 20668451 chr4 81406765 81431195 Gain or loss Cancer - 20668451 chr4 81406765 81431195 Gain or loss Lung cancer - 20668451 chr4 81406765 81431195 Gain or loss Ovarian cancer - 20668451 chr4 81406765 81431195 Gain or loss Pancreas cancer - 20668451 chr4 81406765 81431195 Gain or loss Prostate cancer - 20668451 chr4 81406766 81431194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 81406766 81431194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 81421122 81421172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81428380 83616429 LOH Normal High-resolution SNP genotyping 21211785 chr4 81460487 81460562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81462618 81482659 Gain and loss Pancreatic cancer SNP array 17952125 chr4 81475947 82103918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 81475947 82103918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 81521551 81521889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 81545008 81569338 Gain and loss Pancreatic cancer SNP array 17952125 chr4 81566925 81567025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81614102 82241945 Gain and loss Pancreatic cancer SNP array 17952125 chr4 81621423 81621523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81630481 81630581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81648619 81649619 Loss Chronic lymphocytic leukemia References 21215367 chr4 81648711 81649711 Loss Chronic lymphocytic leukemia References 21215367 chr4 81649652 81650652 Loss Chronic lymphocytic leukemia References 21215367 chr4 81649760 81650760 Gain Cancer Human 24 color M-FISH 21215367 chr4 81649760 81650760 Gain Chronic lymphocytic leukemia References 21215367 chr4 81652006 81653006 Loss Chronic lymphocytic leukemia References 21215367 chr4 81666068 81667055 Gain and loss Pancreatic cancer SNP array 17952125 chr4 81675506 81675701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 81706999 96867539 Microdeletion delayed speech array-CGH 20522426 chr4 81706999 96867539 Microdeletion growth disorder array-CGH 20522426 chr4 81706999 96867539 Microdeletion Mental retardation array-CGH 20522426 chr4 81709457 81743201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 81729915 81730015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81746314 81746414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81750244 81754963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 81856159 81856259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81880968 82150269 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 81922708 81922923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 81924367 81924467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 81936238 82580320 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 81936238 82946222 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 8204 35987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 82125194 82125267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8213747 8213847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 82146488 82146572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8216784 8224819 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 82171143 82197709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 82171143 82197709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 82209001 82212500 Deletion Glioma mate-paired sequence 20126413 chr4 82210540 82210860 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 82228861 82345239 Deletion delayed speech Best RefSeq 20522426 chr4 82228861 82345239 Deletion growth disorder Best RefSeq 20522426 chr4 82228861 82345239 Deletion Mental retardation Best RefSeq 20522426 chr4 82228861 82355212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 82228861 82355212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 82228875 86711060 Microdeletion delayed speech array-CGH 20522426 chr4 82228875 86711060 Microdeletion growth disorder array-CGH 20522426 chr4 82228875 86711060 Microdeletion Mental retardation array-CGH 20522426 chr4 82242425 82276436 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 82309298 82331904 Gain and loss Pancreatic cancer SNP array 17952125 chr4 82338014 82338107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8235974 8261720 Duplication Oligozoospermia Array-CGH 20877625 chr4 82367016 82483394 Gain and loss Pancreatic cancer SNP array 17952125 chr4 82400000 93700000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chr4 82474481 82474596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 82488214 82488312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8251960 8293725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 8251960 8293725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 82528776 82528855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8253111 8284241 Loss Autism - 20841430 chr4 82532154 82532254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 82556057 82578347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 82559478 82609045 Deletion small cell lung cancer array-CGH 20016488 chr4 82562391 82611423 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 82566187 82606022 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 82567243 82612085 Deletion delayed speech Best RefSeq 20522426 chr4 82567243 82612085 Deletion growth disorder Best RefSeq 20522426 chr4 82567243 82612085 Deletion Mental retardation Best RefSeq 20522426 chr4 82567243 82612085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 82592973 82593073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 82600000 191273063 Copy number Breast cancer BAC array 16272173 chr4 82600000 84300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 82600000 84300000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr4 82600000 84300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 82612636 82612750 Gain and loss Pancreatic cancer SNP array 17952125 chr4 82617771 112368135 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 82629947 82630149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 82630028 82630132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 82630226 82630326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 82662900 82663000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8267 39648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 82698165 82743327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 82705398 82750240 Gain and loss Pancreatic cancer SNP array 17952125 chr4 82769856 82769888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 82770650 82784086 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 82770919 82771011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 82832468 82832564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8287501 8293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 82893894 82894490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 82911718 83110933 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 82918369 82918469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8293501 8362500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 82982208 82985653 Loss Normal 244K array 17666407 chr4 83013577 83013677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 83019351 84297807 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 83042796 83042911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 83109603 83110012 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 83129150 84297807 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 83148325 83150415 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 83152937 83153087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8319101 8360896 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8321220 53513854 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr4 8322392 8359738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 832896 915805 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83294314 83294368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 833065 916174 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 833066 916174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 833066 916174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83314724 83314830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83322393 83322569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8336922 8370576 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 83398803 83399114 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 83452879 83452957 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83452879 83452983 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83474096 83477678 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 83493491 83514173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 83493491 83514173 Deletion delayed speech Best RefSeq 20522426 chr4 83493491 83514173 Deletion growth disorder Best RefSeq 20522426 chr4 83493491 83514173 Deletion Mental retardation Best RefSeq 20522426 chr4 83493491 83514173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83535543 83536752 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 83536353 83541584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 83542815 83542883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8355373 8355473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 83553907 83554935 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83563371 83570402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 83563371 83570402 Deletion delayed speech Best RefSeq 20522426 chr4 83563371 83570402 Deletion growth disorder Best RefSeq 20522426 chr4 83563371 83570402 Deletion Mental retardation Best RefSeq 20522426 chr4 83563371 83570402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83570787 83601263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 83570787 83601263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83570787 83601264 Deletion delayed speech Best RefSeq 20522426 chr4 83570787 83601264 Deletion growth disorder Best RefSeq 20522426 chr4 83570787 83601264 Deletion Mental retardation Best RefSeq 20522426 chr4 83614533 83614853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 8362501 8633000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 83631000 83631821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83631673 83652298 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8363277 9501968 LOH Normal High-resolution SNP genotyping 21211785 chr4 83635017 83636070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83680057 83680930 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83680970 83681038 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83701543 83708602 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83708942 83749433 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8374975 8995823 LOH Normal High-resolution SNP genotyping 21211785 chr4 8374975 9042670 LOH Normal High-resolution SNP genotyping 21211785 chr4 8374975 9501968 LOH Normal High-resolution SNP genotyping 21211785 chr4 83753290 83761614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 83753290 83761614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83765620 83768490 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 83769578 83774225 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83769714 83939034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 83769714 83939034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 83775432 83785357 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 83849097 83852178 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 8385534 8385634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 83862409 83862469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 83887719 84771588 LOH Normal High-resolution SNP genotyping 21211785 chr4 83891463 83892234 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83893514 83893607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8389563 8426909 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83909659 84077104 Gain and loss Pancreatic cancer SNP array 17952125 chr4 83958839 84040715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 83958839 84040715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84000000 161500000 Deletion Splenic marginal zone lymphoma BAC CGH array 21957467 chr4 84036676 84036776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 84038816 84039185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84040860 84060462 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr4 84040861 84060146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84040861 84060146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84064230 84064296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 84065167 84151006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84065167 84151006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84084915 84085022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84096994 84178870 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8409954 8438810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 84100000 191154276 Loss Breast cancer Microarray-based CGH 17133270 chr4 84175263 84215994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84175263 84215994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84179085 84198617 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8418911 8493352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84203307 84289161 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84203450 84203980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 84213614 84256306 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 84223072 84223177 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84223073 84223177 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84230239 84254935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84230239 84254935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84300000 87100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 84313418 84354149 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84368392 84393090 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84387443 84388383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84404003 84425091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84404003 84425091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84418284 84418384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 84435494 84475330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84435494 84475330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84440733 84441017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 8445642 8445751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8445930 8446089 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 84482460 84482560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 84542159 84563143 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84547525 84596049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84547525 84596049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84570794 84613484 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84582601 84582829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 84596196 84601900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84596196 84601900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84601124 84625314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84617701 84618565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84618991 84625242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8466144 8493356 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 84676248 84746052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 84676248 84746052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84685682 84734175 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84714690 84714795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 84734351 84740055 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84739277 84763435 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84743616 85777864 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 84743616 86556052 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 84744892 84764667 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84755856 84756720 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84772808 84772901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 84776373 84776467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 84814440 84884205 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84837683 96243984 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr4 84839843 84840043 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8486517 8560509 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84914529 84914613 Gain and loss Pancreatic cancer SNP array 17952125 chr4 84914530 84914628 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8493450 8529181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 8493450 8529181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85008011 85266212 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-438K arrays 21546498 chr4 85018622 85020515 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 85118981 85119079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8512813 8512922 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8512813 8512924 Gain and loss Pancreatic cancer SNP array 17952125 chr4 85174213 85174313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 85248684 85248784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 85299399 85299499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8530206 8534090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85346286 85351938 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 85355097 85355197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 85373834 85373940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85384174 85385668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85511989 85512093 Gain and loss Pancreatic cancer SNP array 17952125 chr4 85511989 85512097 Gain and loss Pancreatic cancer SNP array 17952125 chr4 85517993 85518093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 85522413 85523823 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8555340 8701803 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr4 85579453 86656088 LOH Normal High-resolution SNP genotyping 21211785 chr4 8559455 8565237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 8559455 8565237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85630518 85652388 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 85633460 85638411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 85633460 85638411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85641556 85641651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8566271 8599331 Gain and loss Pancreatic cancer SNP array 17952125 chr4 85723081 85789363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 85723081 85789363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85771615 85776566 Gain and loss Pancreatic cancer SNP array 17952125 chr4 85809719 86106568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 85809719 86106568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85827903 85828192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85827914 85828176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 85858007 85858157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 85861236 85927518 Gain and loss Pancreatic cancer SNP array 17952125 chr4 85862339 85868641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 85877386 85877486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 85889316 85889416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 85947874 86244723 Gain and loss Pancreatic cancer SNP array 17952125 chr4 85950660 87762871 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 85966058 85966347 Gain and loss Pancreatic cancer SNP array 17952125 chr4 86026258 86026408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86026569 86026629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 86099137 86099314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86099201 86099301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86099313 86099558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86099318 86099453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86106562 86106983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 86106995 86147192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 86164724 86164784 Gain and loss Pancreatic cancer SNP array 17952125 chr4 86169403 86169453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 8621798 8664533 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 86240673 86241000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 86244729 86245028 Gain and loss Pancreatic cancer SNP array 17952125 chr4 86245171 86245365 Gain and loss Pancreatic cancer SNP array 17952125 chr4 86256021 86256121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8633001 8680250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 8633191 8640418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 8633191 8640418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 86362460 86362560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86378828 86379155 Gain and loss Pancreatic cancer SNP array 17952125 chr4 86378828 86379157 Gain and loss Pancreatic cancer SNP array 17952125 chr4 86385434 86399871 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 86399858 86403249 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 8640244 9120591 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 8640244 9190837 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 8640336 10297183 LOH Normal - 20944671 chr4 8645287 8672388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 8645287 8672388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 86457442 86490685 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 86458001 86458082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 86470146 86470382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86470371 86470626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86529544 86529854 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 86536198 86536298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86567971 86568071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86570047 86570147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86587986 86867769 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 chr4 8659157 9120591 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 8659157 9190837 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 8659157 9295727 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 86615291 87142847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 86615291 87142847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 86637043 86641302 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 86681309 86681629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 86703802 87432048 LOH Normal High-resolution SNP genotyping 21211785 chr4 86781701 86785700 Deletion Glioma mate-paired sequence 20126413 chr4 86783410 86783740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 86788264 114865533 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 86790320 86791929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 8680251 8783000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 86837950 86838950 Loss Chronic lymphocytic leukemia References 21215367 chr4 86848874 87280999 Gain and loss Pancreatic cancer SNP array 17952125 chr4 86869416 86869516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86875024 86875124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 86879780 86880101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 86900000 93700000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 chr4 8691988 8781701 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr4 8693859 9672662 LOH Normal High-resolution SNP genotyping 21211785 chr4 86991441 86991541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8700288 8709818 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8701929 9672662 LOH Normal High-resolution SNP genotyping 21211785 chr4 87042730 87484292 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 8709105 8742031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 87100000 88200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 87100000 88200000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr4 8710420 9672662 LOH Normal High-resolution SNP genotyping 21211785 chr4 8712458 8739550 Gain and loss Pancreatic cancer SNP array 17952125 chr4 87156655 87593320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 87156655 87593320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 87156655 87734287 Gain or loss Breast cancer - 20668451 chr4 87156655 87734287 Gain or loss Cancer - 20668451 chr4 87156655 87734287 Gain or loss Lung cancer - 20668451 chr4 87156655 87734287 Gain or loss Ovarian cancer - 20668451 chr4 87156655 87734287 Gain or loss Pancreas cancer - 20668451 chr4 87156655 87734287 Gain or loss Prostate cancer - 20668451 chr4 8716722 8719390 Gain Normal 244K array 17666407 chr4 87179693 87179783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 87186201 87186674 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 87187266 87187420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 87194236 87201439 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 87195106 87198776 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 87195118 87198968 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 87195118 87198968 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 87195399 87198975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 87195415 87199036 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 87224845 87224934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 87235627 87236666 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 8725255 9672662 LOH Normal High-resolution SNP genotyping 21211785 chr4 87285378 87285559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 87294811 87638395 Gain and loss Pancreatic cancer SNP array 17952125 chr4 87299277 87299367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 87314117 87314176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 87314864 88244236 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 87325421 87325575 Gain and loss Pancreatic cancer SNP array 17952125 chr4 87344601 87344656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8734598 8774353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 8735201 8747690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 87361021 87361121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8737654 8740969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 8738321 8751248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 8740141 8741488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 8740777 8755335 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 87409446 87425925 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 87501779 87558769 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 8750430 8768452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 8750547 8781629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 87527686 88287609 LOH Normal High-resolution SNP genotyping 21211785 chr4 8754732 8787408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 87674966 87675057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8767722 8769497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 87734909 87955326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 87734909 87955326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 87750065 87860537 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 87770422 88695704 LOH Normal High-resolution SNP genotyping 21211785 chr4 87803905 87837694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 8782591 9662982 LOH Normal High-resolution SNP genotyping 21211785 chr4 8783001 9104500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 87861532 87861991 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr4 87865416 87870967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 87865861 87866369 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr4 87873064 88093481 Gain and loss Pancreatic cancer SNP array 17952125 chr4 87910022 88097650 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 87913270 87913370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 87928139 88062191 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 87963645 87989440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 87963645 87989440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 87973197 87973288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88000000 131100000 Loss Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 chr4 88000000 151100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 88000000 176300000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr4 88000000 191154276 Loss Endometrioid adenocarcinoma CGH 16974079 chr4 88000000 93700000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 chr4 88000000 93700000 Loss and deletion Multiple myeloma Array CGH 16616336 chr4 88000000 98800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr4 88000000 98800000 Loss Esophageal adenocarcinoma MLPA 18820669 chr4 88016383 88032599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88016383 88032599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88074612 88074705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88089842 88090258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88089842 88090258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88102020 88127447 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88147177 88281215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88147177 88281215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88154592 88170727 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88200000 102500000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr4 88200000 191273063 Loss Congenital anomalies of the kidney and urinary tract - 20505237 chr4 88200000 94000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 88200000 94000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 88200000 94000000 Duplication Splenic marginal zone lymphoma BAC CGH array 21957467 chr4 88200000 94000000 Triplication Parkinson disease - 20877625 chr4 88213342 88419362 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88225498 88225580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88227997 88228413 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88249301 88253600 Deletion Glioma mate-paired sequence 20126413 chr4 88251162 88251493 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 88301238 88360698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88301238 88360698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88309018 88309106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88347259 88348268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88404165 88448506 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 88438904 88498853 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88443965 88463062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88443965 88463062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88463664 88504631 Amplification or deletion Cancer Array CGH 17440070 chr4 88470770 88470870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88477020 88531347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88477020 88531347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88485384 88486411 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88510908 88511242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 88527061 88527350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88552404 88552482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88562758 88598197 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr4 88562758 88598197 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr4 88562759 88598521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88562759 88598521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88582120 88601217 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88594992 88636200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 88598376 88606648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 88600633 88633745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 88606889 88606989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88610746 88640547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 88613524 88669530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88613524 88669530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88614409 89612929 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 88614945 88669524 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8864979 8865039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88665216 88665505 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88669884 88669984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88690559 88690637 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88700901 88707200 Deletion Glioma mate-paired sequence 20126413 chr4 88700914 88737785 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88702908 88705336 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 88721733 89278892 LOH Normal High-resolution SNP genotyping 21211785 chr4 88748705 88757049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88748705 88757049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88751669 88807685 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88790483 88804534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88790483 88804534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88793476 88793576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88794673 88794768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8882812 8882912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8883477 8883577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88836693 88836793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88856695 88856795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88884128 88884229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88889240 88894899 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88900000 170400000 Loss Breast cancer Conventional CGH 17393978 chr4 88900000 170400000 Translocation Breast cancer transcriptome sequencing 19181860 chr4 88900952 88901037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 88915137 88933939 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 88923692 88940851 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 88928293 90858870 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 88934824 88941651 Gain and loss Pancreatic cancer SNP array 17952125 chr4 88939725 88952625 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr4 88939757 88952098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88939757 88952098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88973093 88986968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 88973093 88986968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 88973163 88986968 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr4 88975850 89558344 LOH Normal High-resolution SNP genotyping 21211785 chr4 88975850 89926891 LOH Normal High-resolution SNP genotyping 21211785 chr4 88994660 88994976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 89013200 89079754 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 89022285 89022383 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89022285 89022384 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89032019 89034191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89077912 89090253 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8908499 8908575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 89099729 89125145 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89115826 89123586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89115826 89123586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8913934 8914023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 89139807 89140268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 89140413 89140577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89144705 89144777 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 89147844 89217952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89147844 89217952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89170234 89170850 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89194833 89194883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 89203110 89203199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 89205906 89205942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 89230441 89299035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89230441 89299035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89253981 89261741 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89256692 89257028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 89256693 89257028 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 89275730 89570298 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 89278568 89278730 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89278568 89278732 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89285999 89356107 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8932857 9033353 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr4 8933741 8939891 Gain Normal TaqMan assays 20972442 chr4 89341879 89341986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8934189 8979898 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr4 89346603 89346728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89346604 89346728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89355287 89355375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8935988 8937581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89362085 89407527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 89366905 89367005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89370019 89436901 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89395184 89427260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 89396328 89411553 Loss Normal 244K array 17666407 chr4 89398960 89399438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89402077 89424912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89402077 89424912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8940734 8942327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89415381 89415484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89440675 89459747 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 89447489 89459294 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 8945481 8947074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89470352 89470454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89480034 89480139 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89480034 89480141 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89484759 89484883 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8950226 8951819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89505058 89505158 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89505060 89505160 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89518914 89583272 Copy number Lung cancer - 20668451 chr4 89518914 89583272 Gain or loss Breast cancer - 20668451 chr4 89518914 89583272 Gain or loss Cancer - 20668451 chr4 89518914 89583272 Gain or loss Lung cancer - 20668451 chr4 89518914 89583272 Gain or loss Ovarian cancer - 20668451 chr4 89518914 89583272 Gain or loss Pancreas cancer - 20668451 chr4 89518914 89583272 Gain or loss Prostate cancer - 20668451 chr4 89518915 89583271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89518915 89583271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89520134 89534396 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89526271 89526371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 89537115 89537593 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89540224 89562926 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8954971 8956564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89553536 89553638 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89553536 89553639 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89595290 89595381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8959716 8961309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89597290 89646337 Gain or loss Breast cancer - 20668451 chr4 89597290 89646337 Gain or loss Cancer - 20668451 chr4 89597290 89646337 Gain or loss Lung cancer - 20668451 chr4 89597290 89646337 Gain or loss Ovarian cancer - 20668451 chr4 89597290 89646337 Gain or loss Pancreas cancer - 20668451 chr4 89597290 89646337 Gain or loss Prostate cancer - 20668451 chr4 89597291 89646334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89597291 89646334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89608509 89608609 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89617065 89618072 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 89634070 89634190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8964461 8966054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89655115 90204264 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-470K arrays 21546498 chr4 89657194 89721426 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89661158 89663978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89661158 89663978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8969206 8970799 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr4 89717384 89756292 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 89723881 89724146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89731957 117654338 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr4 89732597 89848716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89732597 89848716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89732669 89848709 Copy number Lung cancer - 20668451 chr4 89732669 89848709 Gain or loss Breast cancer - 20668451 chr4 89732669 89848709 Gain or loss Cancer - 20668451 chr4 89732669 89848709 Gain or loss Lung cancer - 20668451 chr4 89732669 89848709 Gain or loss Ovarian cancer - 20668451 chr4 89732669 89848709 Gain or loss Pancreas cancer - 20668451 chr4 89732669 89848709 Gain or loss Prostate cancer - 20668451 chr4 89735485 89784490 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8973952 8975545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 8973952 8975545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89741932 89742246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 8978697 8979892 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr4 8978698 8979894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89787169 90564847 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 8979788 9044420 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 8979788 9080356 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 8979788 9088431 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 8979788 9095173 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 8979788 9095185 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 8979788 9107001 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 8979788 9110480 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr4 8979788 9118973 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 89799337 89802102 Gain and loss Pancreatic cancer SNP array 17952125 chr4 8980010 9067345 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 8980010 9067345 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 8980010 9108523 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 8980010 9108523 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 8980214 9095677 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 chr4 8980214 9095677 Gain Non-syndromic sensorineural hearing loss 610K 19587683 chr4 8981399 9024929 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 89822108 93149947 Deletion Obesity Illumina SNP array 20622171 chr4 89825022 89825128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89836089 89838409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89836089 89838409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89855655 90214015 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-466K arrays 21546498 chr4 89862036 89862301 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89866129 90197346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 89866129 90197346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 89870825 89986864 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89898601 89902700 Deletion Glioma mate-paired sequence 20126413 chr4 899001 931000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 89900484 89900805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 89940205 89940305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 8994024 8999829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 8994024 8999829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 8995587 9388035 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 89963177 89963283 Gain and loss Pancreatic cancer SNP array 17952125 chr4 89967906 90238666 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 89975535 89976083 Gain and loss Pancreatic cancer SNP array 17952125 chr4 90004689 90101559 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9000913 9120591 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 9000913 9190837 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 9000913 9295727 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 9000913 9950048 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 9002456 9046974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9002772 9073202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 90035004 90036195 Loss Renal cell carcinoma Human Genome CGH 244A oligo microarrays 20952505 chr4 90052389 90052440 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 90056176 90056261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 90061648 90061741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9010028 9014389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 9010028 9014389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 90131067 90139564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 90167437 110363354 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr4 9017503 9042710 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9018638 9662982 LOH Normal High-resolution SNP genotyping 21211785 chr4 9018638 9672662 LOH Normal High-resolution SNP genotyping 21211785 chr4 9024930 9066074 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 90252991 90255073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 90252991 90255073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 90267953 90335369 Gain and loss Pancreatic cancer SNP array 17952125 chr4 90271026 90271127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 90290612 93669168 LOH Normal High-resolution SNP genotyping 21211785 chr4 90364081 90364181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 90365188 90365272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 90384452 90448184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 90384452 90448184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 90387322 90387653 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 90391146 90393217 Gain and loss Pancreatic cancer SNP array 17952125 chr4 90409181 90409242 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9041096 9088443 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 90525442 90586122 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9055133 9110480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9055358 9061338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 9055358 9061338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9057401 9108000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 9058387 9088431 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9058387 9095173 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 90604146 91734320 LOH Normal High-resolution SNP genotyping 21211785 chr4 9060433 9118973 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9063118 10001635 LOH Normal High-resolution SNP genotyping 21211785 chr4 9063118 9662982 LOH Normal High-resolution SNP genotyping 21211785 chr4 9063118 9764581 LOH Normal High-resolution SNP genotyping 21211785 chr4 9063118 9937601 LOH Normal High-resolution SNP genotyping 21211785 chr4 9063118 9937602 LOH Normal High-resolution SNP genotyping 21211785 chr4 90645250 90759447 Duplication Parkinson disease Affymetrix 250k SNP microarrays 20733075 chr4 90646910 90647697 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 9066074 9070327 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 9066076 9094397 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 90685260 90685347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9070130 9071047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9070316 9088431 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9070316 9118973 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9070328 9088443 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 9070328 9088443 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 90725741 91330077 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 90767315 90767637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 9077199 9081560 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9082604 9619448 LOH Normal High-resolution SNP genotyping 21211785 chr4 90865727 90978470 Duplication or triplication Parkinson disease Reference 17953491 chr4 90865728 90978489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 90865728 90978489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 90867837 90867928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 90873014 90917617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 90883584 90883684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9088444 9243088 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr4 90906530 91016324 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 90920981 90921081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9094535 9095445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 9094535 9095445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 91003883 91115311 Gain and loss Pancreatic cancer SNP array 17952125 chr4 91014125 91014236 Gain and loss Pancreatic cancer SNP array 17952125 chr4 91014125 91014237 Gain and loss Pancreatic cancer SNP array 17952125 chr4 91019706 91094803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 91019706 91094803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9104381 9108757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9104501 9110500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 91071334 91071424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 91076267 91171447 Loss Autism Exome sequencing and CGH 22495309 chr4 91085842 91516459 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 91089383 93486891 Deletion Cancer Affymetrix 250K Sty array 20164920 chr4 9110501 9302000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 9114856 9161494 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 91173230 91232956 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9117494 9354801 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 91182663 91216780 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9118928 9173614 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9119027 9164496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9122529 9128509 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9125882 9176087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 91268146 91268246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 91293937 91294085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 91299621 93425594 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 9132089 9440442 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 91375205 91865206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 91381730 91381819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 91434728 91434828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 91504371 91509060 Gain and loss Pancreatic cancer SNP array 17952125 chr4 91506179 91510539 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 91510298 91510534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 91513360 92060333 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chr4 91513360 92877386 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9159667 9747442 LOH Normal High-resolution SNP genotyping 21211785 chr4 91600207 91600514 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 91601223 91601541 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 916090 942271 Gain and loss Pancreatic cancer SNP array 17952125 chr4 91615328 91959573 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 9161706 9162592 Gain and loss Pancreatic cancer SNP array 17952125 chr4 916260 942441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 916260 942441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 916262 942444 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 91648453 91648689 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9166887 9167035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 91703176 91881434 Deletion Cancer ultra-high resolution array CGH 21272361 chr4 9171649 9175979 Gain and loss Pancreatic cancer SNP array 17952125 chr4 91785898 92889336 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 91813801 91823900 Deletion Glioma mate-paired sequence 20126413 chr4 91815808 91821945 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 91815809 91821931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 9182161 9182268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 91858706 91858774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9186076 9186546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 91876006 91876099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 91937198 92135131 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr4 91939571 91970148 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 91943918 91967359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 91945861 91963029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 91949811 91967623 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 91951470 91963381 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 91972774 162358674 Deletion Esophageal cancer affymetrix genechip human mapping 268K Nsp arrays 21851588 chr4 91973485 92018974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 91977348 91977448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 91978659 91979286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 91978659 91979286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 91983513 91983607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9199824 9200178 Gain and loss Pancreatic cancer SNP array 17952125 chr4 92022028 92023743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 92029871 92029971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 92053316 92053416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9209934 9210538 Gain and loss Pancreatic cancer SNP array 17952125 chr4 92101355 92146366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92117232 92117366 Gain and loss Pancreatic cancer SNP array 17952125 chr4 92118516 92118616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 92133438 94040540 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 92150575 92154871 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 92150580 92154859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 92151001 92154500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 92154164 92154223 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr4 92266177 92310218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92274952 92299032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9229044 9253543 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 9229044 9253543 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 92292379 92292858 Loss Normal 244K array 17666407 chr4 9229907 9241989 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 92303842 92503292 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 92306969 92307090 Loss Normal 244K array 17666407 chr4 92314768 92334585 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92314918 92328147 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92322459 92332020 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92340063 92345805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92379345 92381464 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 9241078 9241626 Gain and loss Pancreatic cancer SNP array 17952125 chr4 92469031 92501235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92532912 92565413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92542993 92543094 Gain and loss Pancreatic cancer SNP array 17952125 chr4 92543011 92543098 Gain and loss Pancreatic cancer SNP array 17952125 chr4 92671280 92671380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 92692337 92697344 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 92713489 92749697 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 92795897 92837453 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 92815724 92818345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92835759 92835859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 92870246 92870346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9289568 9336164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92926106 92960773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 92934730 99306487 Deletion Cancer single-nucleotide polymorphism array 19907438 chr4 92948457 92972145 Gain and loss Pancreatic cancer SNP array 17952125 chr4 92956192 92956723 Gain and loss Pancreatic cancer SNP array 17952125 chr4 92977488 92978415 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9298009 9298079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 9302001 9321500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 9303580 9313951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 93054793 93086702 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 93085724 93085934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 93085929 93086159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 93099147 93224839 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93099147 93344017 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 931001 960000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 93124980 93125039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 93140333 93140365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 93145683 93360493 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 93145683 93360493 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 93149889 93369743 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 9321501 9686000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 93226702 93461993 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr4 93269598 93344017 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93272727 93344017 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93276668 93344017 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93322646 93324162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 93326507 93491475 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93332297 94412904 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93444831 94914730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 93444831 94914730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 93460801 93462317 Gain and loss Pancreatic cancer SNP array 17952125 chr4 93479949 93685888 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-445K arrays 21546498 chr4 93499105 93648445 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr4 93504950 94636268 Gain Autism - 20841430 chr4 93517210 93517304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 93582986 95050827 Gain and loss Pancreatic cancer SNP array 17952125 chr4 93612088 93612407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 93614532 93862847 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93631395 93637602 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 9363894 190693052 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr4 9365669 9365981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 93664713 94266639 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 93700000 107700000 Gain Prostate cancer Array CGH 16573809 chr4 93700001 95100000 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr4 93709550 93862847 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93709550 93894414 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93709550 93901923 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9370992 9380847 Gain and loss Pancreatic cancer SNP array 17952125 chr4 93717302 93717402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 93725340 93772305 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93786001 93790800 Deletion Glioma mate-paired sequence 20126413 chr4 93792778 93793188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 93798979 93799294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 93838020 93877262 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 93842441 93842516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 93857899 93865520 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr4 93858888 94571086 Copy number Lung cancer paired-end sequencing 18438408 chr4 939113 1092019 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 chr4 9392701 9394730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 9392701 9394730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9393715 9393715 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr4 9394923 48349563 Substitutions and indels small cell lung cancer array-CGH 20016488 chr4 93962144 93962244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 93980596 93980671 Gain and loss Pancreatic cancer SNP array 17952125 chr4 94013339 94013439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94022041 94022117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9403494 9403583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 94037915 94038015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9405131 10001635 LOH Normal High-resolution SNP genotyping 21211785 chr4 9405131 9937601 LOH Normal High-resolution SNP genotyping 21211785 chr4 94075236 94081801 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr4 94075236 94081801 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 94099501 94213620 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9410429 9800836 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr4 9414321 14327726 Loss Neuroblastoma aCGH 20406844 chr4 94180000 94830000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr4 94203211 94268846 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 94206931 94363664 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 94212231 94313530 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 94214422 94216732 Gain Normal 244K array 17666407 chr4 9423554 11430253 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 94241713 94499100 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9424861 9633796 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-467K arrays 21546498 chr4 942506 957174 Gain and loss Pancreatic cancer SNP array 17952125 chr4 942674 957344 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr4 942675 957344 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 942676 957344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 942676 957344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 94268712 94600304 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9432865 9433131 Gain and loss Pancreatic cancer SNP array 17952125 chr4 94331945 95157968 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 9436948 9650970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 9436948 9650970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 94371801 94923500 Deletion Glioma mate-paired sequence 20126413 chr4 9438157 10653654 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-468K arrays 21546498 chr4 94384664 94384804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 94463566 94463608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 945373 988217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 94543671 94543771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94574792 94574892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94585244 112649916 Copy number Lung cancer paired-end sequencing 18438408 chr4 9459872 9461901 Gain and loss Pancreatic cancer SNP array 17952125 chr4 94609017 94609117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94615443 94615543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94658105 94658200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 94684178 94684278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94689957 94690047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9470665 9470754 Gain and loss Pancreatic cancer SNP array 17952125 chr4 94716876 94722771 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 9472795 9475050 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 9472795 9475053 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 94728573 94894653 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 94741114 94760609 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 94760264 94906265 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 94775319 94775419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94776301 94786500 Deletion Glioma mate-paired sequence 20126413 chr4 94778463 94784513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 94784962 94801684 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 94784962 94801945 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 94784962 94802107 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 94788705 94788795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94794589 95042493 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chr4 94832415 95509370 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr4 9485468 9486234 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 94893243 94904635 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr4 94904575 94923940 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 94950064 94961981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 94951896 94951996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 94960364 94960437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 94969065 94970244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 94969065 94970244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9504119 9718141 Gain and loss Pancreatic cancer SNP array 17952125 chr4 95047772 95047872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95098519 95098592 Gain and loss Pancreatic cancer SNP array 17952125 chr4 95100000 107700000 Gain and amplification Multiple myeloma Array CGH 16616336 chr4 95107255 95108320 Gain and loss Pancreatic cancer SNP array 17952125 chr4 95120187 95120287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95145333 95794346 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 9519995 10030992 LOH Normal High-resolution SNP genotyping 21211785 chr4 953095 953195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95312878 95366078 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 95333637 95336067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 95348217 95431462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 95348217 95431462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 95376278 95376751 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 95397820 95397914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95400000 99100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 95400000 99100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 95438730 95483050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 95438730 95483050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 95486051 95569619 Gain and loss Pancreatic cancer SNP array 17952125 chr4 95497590 95497690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95515229 95515329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95521361 95521461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95555232 95555312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95577634 95621182 Gain and loss Pancreatic cancer SNP array 17952125 chr4 95584035 95584120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95589309 95589412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 95590325 95590425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95590825 95591066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 95592061 95808400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 95592061 95808400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9561389 9561638 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 9565051 9566025 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 9565185 9566813 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 9565920 9566237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 95717988 95718303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 95718898 97696507 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 95730247 95943810 Gain and loss Pancreatic cancer SNP array 17952125 chr4 95753373 95753473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 957965 958020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95810902 96910465 LOH Normal High-resolution SNP genotyping 21211785 chr4 95830120 95830870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 95841235 95841335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95841961 95842111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95847018 95847118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95856764 95857684 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 95898150 96298624 Copy number Lung cancer - 20668451 chr4 95898150 96298624 Gain or loss Breast cancer - 20668451 chr4 95898150 96298624 Gain or loss Cancer - 20668451 chr4 95898150 96298624 Gain or loss Lung cancer - 20668451 chr4 95898150 96298624 Gain or loss Ovarian cancer - 20668451 chr4 95898150 96298624 Gain or loss Pancreas cancer - 20668451 chr4 95898150 96298624 Gain or loss Prostate cancer - 20668451 chr4 95898151 96295190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 95898151 96295190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 95904963 95905023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 95923256 95923331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 960001 970500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 96015430 96015515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96036306 96433254 Gain and loss Pancreatic cancer SNP array 17952125 chr4 96077108 96077208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96089472 96089789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 9610931 14264360 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 961143 1491043 LOH Normal High-resolution SNP genotyping 21211785 chr4 96210440 96683694 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 96237514 96237614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96261089 96261179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96264668 96264768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 962695 977054 Gain and loss Pancreatic cancer SNP array 17952125 chr4 962861 977224 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 962865 977224 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 962865 977224 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 962865 977224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 96292892 96311640 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 96292892 96330309 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 96299114 96299572 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 96308712 96689031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 96410460 96410533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96446867 96827186 Gain and loss Pancreatic cancer SNP array 17952125 chr4 96454061 96454161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96601478 96601683 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 96617923 96618023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96620089 96620482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 96649266 96649366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96735578 96735678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96747447 96748708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 96755067 96755147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96758195 96782101 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr4 968180 1495991 LOH Normal High-resolution SNP genotyping 21211785 chr4 9685062 9727671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 9685062 9727671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 96859605 97273587 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 9686001 9728000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 96866611 99167973 Duplication Schizophrenia PennCNV software 19197363 chr4 96882814 96882910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96885885 96885985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96937229 96937329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 96980262 96981648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 96980262 96981648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 96990535 96997160 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 97001 99000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 97008841 97008938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 970501 988500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 970615 988146 Gain and loss Pancreatic cancer SNP array 17952125 chr4 970785 988316 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 970785 988316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 970785 988316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 970785 988317 Copy number Autism exome sequencing 22495311 chr4 970785 988317 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 97083751 97083850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 97106339 97106414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 97118421 97119800 Gain and loss Pancreatic cancer SNP array 17952125 chr4 97120001 97121500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 97132931 97133031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 97140936 118241698 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr4 971444 977224 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr4 97146996 97147086 Gain and loss Pancreatic cancer SNP array 17952125 chr4 97146996 97147093 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9718978 9951131 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 97204739 97204839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9726478 9726606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9726517 9726606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9728001 10073000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 97292471 97292577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 97330281 97341614 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 97330281 97342630 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9734495 9950048 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 97395221 97396964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 97430626 97430732 Gain and loss Pancreatic cancer SNP array 17952125 chr4 97430628 97430732 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9748255 9883724 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 97488908 97489212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9750457 9750911 Gain and loss Pancreatic cancer SNP array 17952125 chr4 97526180 97526279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 97539253 97541426 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 9755336 9755400 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr4 9756172 9756378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 97606312 97606408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 97615898 97615969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 97627043 97627367 Gain and loss Pancreatic cancer SNP array 17952125 chr4 97627123 97627366 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9765370 9765470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 97683184 97683282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 97744467 97744557 Gain and loss Pancreatic cancer SNP array 17952125 chr4 97744467 97744561 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9775301 9873149 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chr4 9775642 9776975 Gain and loss Pancreatic cancer SNP array 17952125 chr4 97767312 97767412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 97791126 97791444 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 97800181 97800213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9783252 9843664 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 9783360 9802214 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr4 97866744 98166270 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr4 97903752 97903852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9791390 14566579 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr4 9793688 9793777 Gain and loss Pancreatic cancer SNP array 17952125 chr4 97967932 99259214 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 9799463 10002778 Amplification Breast cancer FISH 17142309 chr4 98003721 98003821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 98039804 99643339 LOH Normal High-resolution SNP genotyping 21211785 chr4 98042975 98043295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 9806030 9806130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9806542 9809111 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 9808660 9819280 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 98116218 98116553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 98181130 98181450 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9818225 9823951 Gain Normal 244K array 17666407 chr4 9818301 9845500 Deletion Glioma mate-paired sequence 20126413 chr4 9818672 9840987 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 9819199 9840584 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9819199 9883288 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9819241 9840987 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 9819241 9843780 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 9819241 9843780 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9819241 9843780 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9819380 9848383 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9819392 9848059 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9819488 9838394 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9819488 9843364 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9819488 9844264 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9819488 9844366 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9819489 9843693 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 9819489 9847521 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 9819619 9843511 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9819619 9843511 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9819619 9843780 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9819619 9843780 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9819619 9843969 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9819619 9843969 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9819930 9843260 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9819930 9843511 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9819930 9843511 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 9819930 9843511 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9819930 9843511 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9820154 9841687 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820154 9843260 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820154 9843511 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820154 9843511 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 9820154 9843780 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820154 9843780 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9820154 9843780 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9841687 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843122 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843260 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843345 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843511 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843511 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843511 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843511 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843780 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843780 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843780 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843969 Copy number gain Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843969 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9843969 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9844053 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr4 9820282 9844053 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr4 9820317 9843658 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 9820359 9843665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 9820536 9843511 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 98207371 98370821 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr4 9820869 9843511 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 9821281 9843511 Copy number loss Normal High-resolution SNP genotyping 21211785 chr4 98220743 98220843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9823254 9844366 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr4 9823254 9844366 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr4 9823258 9839883 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9823258 9840584 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9823258 9840596 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9823258 9843300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9823258 9844093 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9823258 9844264 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9823258 9844354 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9823258 9844366 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9823258 9845240 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9823258 9847534 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9823258 9848047 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9823258 9848059 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9823258 9848383 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9823258 9849761 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 98234684 98234756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 98253425 98285673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 98317497 98317576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 9832714 9844379 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 chr4 9832714 9845240 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr4 9832726 9844366 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9832726 9848059 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9832726 9849761 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 9832726 9868932 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr4 98329668 98329993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 98352399 98352712 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 98385724 98411378 Copy number Normal Birdsuite, version 1.5.2 22087296 chr4 98389453 98931161 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 98390805 98391437 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 98391437 98404155 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 98400285 98400605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 98416106 98416256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 98430135 98463135 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9843780 10622686 LOH Normal High-resolution SNP genotyping 21211785 chr4 9843969 10622686 LOH Normal High-resolution SNP genotyping 21211785 chr4 98455896 98485112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9847979 9848440 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr4 98573314 98578236 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 98573892 98579082 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr4 98608486 99305220 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-441K arrays 21546498 chr4 98626980 98627070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 98678131 99044540 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr4 98699050 99283414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 98699050 99283414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 98705735 98705820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 98712903 98715120 Loss Normal 244K array 17666407 chr4 9874892 9914828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 98800000 101100000 Loss and deletion Multiple myeloma Array CGH 16616336 chr4 98800000 101100000 Loss Gastric cancer Array CGH 16891809 chr4 9880524 9914645 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 98809676 98809993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 9881026 9929132 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9881882 9881886 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 9881886 9884032 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 9881937 9916011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 98837205 99421569 Gain and loss Pancreatic cancer SNP array 17952125 chr4 9884032 9884092 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 9884344 9914637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 9884388 9912912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 988501 996500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 9885083 9924537 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 98884110 99049791 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr4 9888544 9909844 Gain Normal 244K array 17666407 chr4 98970539 117881899 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr4 99001 103500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 99017017 99146601 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr4 99025149 99025249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99100000 102500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 99100000 102500000 Copy number Normal - 21701786 chr4 99100000 102500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr4 99100000 114100000 Loss Breast cancer - 16397240 chr4 99188729 99189214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 99194691 99195499 Gain and loss Pancreatic cancer SNP array 17952125 chr4 99205896 99206046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99236337 99236422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99262969 99263069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99267635 99267729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99279567 99282310 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 99282310 99377504 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 99313958 99314053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 99315309 99315707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 99318035 99364012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr4 99326836 99327369 Gain and loss Pancreatic cancer SNP array 17952125 chr4 993690 1564815 LOH Normal High-resolution SNP genotyping 21211785 chr4 9937602 9939061 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr4 99377504 99383896 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 99390144 99390244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99396000 99396218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 99401549 99584035 Gain or loss Breast cancer - 20668451 chr4 99401549 99584035 Gain or loss Cancer - 20668451 chr4 99401549 99584035 Gain or loss Lung cancer - 20668451 chr4 99401549 99584035 Gain or loss Ovarian cancer - 20668451 chr4 99401549 99584035 Gain or loss Pancreas cancer - 20668451 chr4 99401549 99584035 Gain or loss Prostate cancer - 20668451 chr4 99401550 99584031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 99401550 99584031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 99401949 99402049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99415850 99626940 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr4 99426952 99427024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99437335 99437435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 994482 1637942 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 chr4 99452113 99452205 Gain and loss Pancreatic cancer SNP array 17952125 chr4 99452113 99452206 Gain and loss Pancreatic cancer SNP array 17952125 chr4 994770 1010509 Gain and loss Pancreatic cancer SNP array 17952125 chr4 994940 1010685 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr4 994940 1010685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 994940 1010685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 99539798 99720993 Gain and loss Pancreatic cancer SNP array 17952125 chr4 99556904 100350186 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 995610 1010686 Copy number Type 2 diabetes deCODE-Illumina CNV370K BeadChip 21754918 chr4 99612435 99798750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr4 99612435 99798750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 99634581 99634670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr4 99639025 99640025 Loss Chronic lymphocytic leukemia References 21215367 chr4 99639842 99640122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 99640521 99641521 Loss Chronic lymphocytic leukemia References 21215367 chr4 996501 1025500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr4 99656602 100350186 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr4 99672948 99821662 Amplification or deletion Cancer Array CGH 17440070 chr4 99750590 99936905 Gain and loss Pancreatic cancer SNP array 17952125 chr4 99775146 99826186 Gain Normal Birdsuite, version 1.5.2 22087296 chr4 99800000 107800000 Loss Normal Human genome CGH 47k ARRAY PLATFORM 22144094 chr4 99800220 99800306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr4 99864266 99930528 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr4 99880930 99881472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr4 99954650 100764969 Gain Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-460K arrays 21546498 chr4 99985365 99986365 Loss Chronic lymphocytic leukemia References 21215367 chr4 99990414 99990714 Loss Chronic lymphocytic leukemia References 21215367 chr4 9999220 10001451 Loss Normal Birdsuite, version 1.5.2 22087296 chr4 9999501 10013200 Deletion Glioma mate-paired sequence 20126413 chr4 9999802 10011803 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr4 9999802 10011803 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 0 0 Gain Cervical cancer array CGH 21063398 chr5 0 0 Loss Breast cancer Conventional CGH 17393978 chr5 0 0 Loss Cervical cancer array CGH 21063398 chr5 10000 11910000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr5 100014244 101611703 LOH Normal High-resolution SNP genotyping 21211785 chr5 100060002 100060102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100060189 100060339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100096661 100096989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 100096661 100096993 Gain and loss Pancreatic cancer SNP array 17952125 chr5 100111193 101094464 LOH Normal High-resolution SNP genotyping 21211785 chr5 100136090 100136190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100170803 100266869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 100170803 100266869 Gain and loss Pancreatic cancer SNP array 17952125 chr5 100170803 100266869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 100180085 100180168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 100191742 100191877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100202829 100202910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100208580 100208673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100215780 100215855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100234994 100235094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100311252 101082656 LOH Normal High-resolution SNP genotyping 21211785 chr5 10033433 10038721 Loss Normal 244K array 17666407 chr5 100349786 100349886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 100369797 100370008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10038721 10325709 Loss Normal 244K array 17666407 chr5 100405564 100505754 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 chr5 10043099 10043311 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 100448684 128502641 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 100497406 100497569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10051329 11800765 Amplification Esophageal cancer affymetrix genechip human mapping 252K Nsp arrays 21851588 chr5 100535625 100788621 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 100577200 100577306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 10058265 10058565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 100617715 101367464 LOH Normal High-resolution SNP genotyping 21211785 chr5 100703233 100734459 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr5 100747054 100797923 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr5 100754348 100788676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 100813725 101395393 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 100945433 100945729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 100945433 100945731 Gain and loss Pancreatic cancer SNP array 17952125 chr5 100945433 100945731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 101011936 101011987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 101026885 101313281 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 10103230 10103299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101130000 110270000 Loss Breast cancer aCGH 21509527 chr5 101214532 101233049 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 101236372 102722768 LOH Normal High-resolution SNP genotyping 21211785 chr5 1012661 1013143 Loss Normal 244K array 17666407 chr5 101320382 101390481 Loss Normal 244K array 17666407 chr5 101344693 101344793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101436971 103006740 LOH Normal High-resolution SNP genotyping 21211785 chr5 101452430 101485914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 101482407 101482477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101494639 101494744 Gain and loss Pancreatic cancer SNP array 17952125 chr5 101494639 101494744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 101494655 101494744 Gain and loss Pancreatic cancer SNP array 17952125 chr5 101560108 101560201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101563661 101563761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101597589 101660152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 101597589 101660152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 101597593 101599178 Gain and loss Pancreatic cancer SNP array 17952125 chr5 101597595 101660152 Gain and loss Pancreatic cancer SNP array 17952125 chr5 101666107 101666349 Gain and loss Pancreatic cancer SNP array 17952125 chr5 101666107 101666427 Gain and loss Pancreatic cancer SNP array 17952125 chr5 101666107 101666427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 101672405 101672505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101697936 101698036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10172324 10241469 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 10172895 10241469 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 101735553 101862619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 101735553 101862619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 101789061 101789161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101791302 101791334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101809354 101809454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 101872718 101872868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10199460 10199560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102034461 102034541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102045541 103446806 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 102055418 102055498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102069559 102069659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102158838 102158938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102168448 102168523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102191254 102191506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 102229000 155860000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 102229422 102394708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 102229422 102394708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 102229426 102393315 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10227106 10227206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10231771 10231866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102351837 102351995 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 102357167 102357254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102361014 102361102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102370892 102370975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102372744 102372894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102395979 102396622 Gain and loss Pancreatic cancer SNP array 17952125 chr5 102395979 102396634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 102430718 102430813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102434450 102435864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 102449603 102483741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 102449603 102483741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 102451425 102483739 Gain and loss Pancreatic cancer SNP array 17952125 chr5 102451949 102452049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102483867 102566806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 102483867 102566806 Gain and loss Pancreatic cancer SNP array 17952125 chr5 102483867 102566806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10250281 10266501 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr5 102539127 103097509 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 10254621 10254959 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10254621 10254959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 102589468 102589568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102593106 102593206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102605841 102635616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 102622341 102642260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 102622341 102642260 Gain and loss Pancreatic cancer SNP array 17952125 chr5 102622341 102642260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 102624657 102624757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102629370 102629470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102630067 102630157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102670336 102670436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102751422 102779098 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 102760027 157708888 Deletion Myelodysplastic syndrome - 21251322 chr5 102785357 102785457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10279437 10303014 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 10279438 10303014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 10279438 10303014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10279445 10302989 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10279455 10302989 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 102800000 104500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 102800000 104500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 102800000 109600000 Loss Breast cancer Array CGH 16608533 chr5 102800000 113100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 102800000 180857866 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr5 10286678 10286749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 102894936 102955954 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 102912454 102926389 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 102912454 102926389 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 102912456 102926389 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 102912456 102926389 Gain and loss Pancreatic cancer SNP array 17952125 chr5 102912456 102926389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 102946493 102947493 Loss Renal cell carcinoma References 21215367 chr5 102964518 102964618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 102980036 102980136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103032267 103032346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10303281 10319501 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 10303282 10319501 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 10303282 10319501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 10303282 10319501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10303401 10318190 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103058454 103058778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 103090202 103090520 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 103090212 103090524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 103141966 103329538 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103169959 103170059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103201611 103234918 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 10324701 10329900 Deletion Glioma mate-paired sequence 20126413 chr5 103251991 103276679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 103261274 103261309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10326501 10328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 10327118 10327640 Loss or gain Normal 244K array 17666407 chr5 103274038 104280080 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 10328001 10919000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 10330707 10361168 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 10330707 10361168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 10330707 10361168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10330798 10332458 Loss Normal 244K array 17666407 chr5 10332389 10360959 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103345625 103345721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103432446 103432528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103439503 103439603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10345153 10345260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10345155 10345260 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10345173 10345260 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103462474 103462638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 103462474 103462639 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103462475 103462634 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103511683 103661467 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 103526050 103560950 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 103573557 103573657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103587343 103587705 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103605961 104735850 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 103624131 103624426 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103624131 103624426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 103624133 103624426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 103724928 104326596 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 103733405 103785495 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 103737982 103738070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103738321 103738421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103738484 103738654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103807777 105916100 LOH Normal High-resolution SNP genotyping 21211785 chr5 103809862 104873156 Duplication Obesity Illumina SNP array 20622171 chr5 103816450 104873156 Duplication Obesity Illumina SNP array 20622171 chr5 103834746 103834846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 103840363 103889405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 103862253 103890274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 103868085 103889404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 103876661 103888503 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 103877554 103925125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 103880301 103890200 Deletion Glioma mate-paired sequence 20126413 chr5 103880569 103907829 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 103882174 103888225 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 103888260 103888491 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 103888260 103906221 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 103888260 103906300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 103888272 103888503 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 10390389 10390496 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10390389 10390498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10390390 10390496 Gain and loss Pancreatic cancer SNP array 17952125 chr5 103913803 103913903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1040295 1050423 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1040295 1050423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10406827 10488491 Gain or loss Breast cancer - 20668451 chr5 10406827 10488491 Gain or loss Cancer - 20668451 chr5 10406827 10488491 Gain or loss Lung cancer - 20668451 chr5 10406827 10488491 Gain or loss Ovarian cancer - 20668451 chr5 10406827 10488491 Gain or loss Pancreas cancer - 20668451 chr5 10406827 10488491 Gain or loss Prostate cancer - 20668451 chr5 10406828 10488491 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 10406828 10488491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 10406828 10488491 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10406828 10488491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 104120668 105100692 LOH Normal High-resolution SNP genotyping 21211785 chr5 1041234 1041318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 104137625 104137725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 104143888 104143986 Gain and loss Pancreatic cancer SNP array 17952125 chr5 104143888 104143986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 104144379 104177757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 104190590 104223672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 104190795 104395803 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr5 104218901 104366882 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 10426328 10471073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 10426915 10427420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10427042 10428088 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10427042 10428088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 104314556 105450342 LOH Normal High-resolution SNP genotyping 21211785 chr5 104334472 104660077 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 104389659 104389759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 104401211 104660077 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 104412713 104412792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1044214 1044386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 104447361 104542241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 104453854 104534047 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 104458134 104534047 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 104458134 104537703 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 104458134 104539060 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 104458134 104540375 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 104460012 104531572 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 104460013 104531570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 104460808 104531562 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 104461321 104526294 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 104461570 104528473 Loss Normal 244K array 17666407 chr5 104464614 104506104 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 104485623 104485673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 104500000 109600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 104500000 109600000 Deletion Lung cancer Relied on a multipoint score function 16773561 chr5 104500000 109600000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 chr5 104500000 113100000 Gain Basal cell lymphoma Array CGH 16317097 chr5 104500000 113100000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr5 104533957 104566897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 104537753 104543582 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 104569447 104571354 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr5 104618843 104619164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 104685000 104685050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 104685688 104853617 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 104746973 104747073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1047501 1092500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 104766580 104766680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 104818000 160663000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 104845198 104845298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 104876813 104882875 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 104904952 104905040 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 10495013 10518135 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 10495013 10518135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 10495013 10518135 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10495013 10518135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 104984120 104984204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 104987754 106597649 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 104994809 104995159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 105006490 105006590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10509932 10510022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105121999 105651166 Deletion Breast cancer FISH 17142309 chr5 105147941 105192455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 105149153 105181826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 105149203 105149303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105286594 105286708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 105286605 105286710 Gain and loss Pancreatic cancer SNP array 17952125 chr5 105286621 105286714 Gain and loss Pancreatic cancer SNP array 17952125 chr5 105361783 105361852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105416071 105416166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105418672 105418772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105519446 105519546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105529194 105529294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105575886 105575986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105587297 105587371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105620977 105621077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105729 105813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1057302 1057392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 105745063 105745163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105779173 105780841 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10578854 10613189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 10580501 10584998 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 105819897 105820897 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 105826209 107510753 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 105910266 105910391 Gain and loss Pancreatic cancer SNP array 17952125 chr5 105910266 105910391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 105917050 105917118 Gain and loss Pancreatic cancer SNP array 17952125 chr5 105917050 105917118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 105918083 105918168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105922318 105923496 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 105922347 105923452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 105935199 105935376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 105936722 105936822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10594568 10594807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 106000047 106120260 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 106017115 106017147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106107 34984289 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr5 106109672 106109744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 106111810 106145622 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 106145983 106146083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10617580 10703225 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 10617580 10703225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10617580 10790108 Gain and loss Pancreatic cancer SNP array 17952125 chr5 106180919 106181089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106194483 106194583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1062077 1091925 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1062077 1091925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1062077 1091925 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1062077 1091925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 106209213 106209305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106257572 106261016 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 106276253 106276310 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 106277017 106277117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10627940 10628275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 106333 106558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 10634885 10634993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106350801 106356300 Deletion Glioma mate-paired sequence 20126413 chr5 106352651 106354329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 106352724 106354865 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 106381623 106422150 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 10639936 10640936 Gain Renal cell carcinoma References 21215367 chr5 106423617 106423717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1064427 20737731 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 106445896 106445996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106477113 106477213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106487049 107850922 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 1065027 1065086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106507416 106508945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 106519625 106579710 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 106530584 111855162 LOH Normal High-resolution SNP genotyping 21211785 chr5 106556975 106557089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106589454 106589541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106645022 106645067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10667873 10667973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106744249 107034495 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 106744250 107034213 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 106744250 107034213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 106744250 107034213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 106744855 107034213 Gain and loss Pancreatic cancer SNP array 17952125 chr5 106765769 106766980 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 106777769 106777869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106796175 106807204 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 106796175 106807601 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 106805931 106806007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106809325 106809379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10681875 10682875 Loss Renal cell carcinoma References 21215367 chr5 106820396 106820496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 106829062 106867264 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 10690201 10694700 Deletion Glioma mate-paired sequence 20126413 chr5 10691164 10731724 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 106912884 106912984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10691984 10693192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 10691989 10693135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 106920823 106920919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 10693091 10693245 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 106950938 106995081 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 106997434 106998547 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 106998060 106998442 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 107030590 107064287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 10705318 10706318 Gain Renal cell carcinoma References 21215367 chr5 107064639 107064716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107065932 107066032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1070948 1313814 Copy number Lung cancer paired-end sequencing 18438408 chr5 107098373 107098666 Gain and loss Pancreatic cancer SNP array 17952125 chr5 107098373 107098666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 107098382 107098666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 107116609 107192602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107116609 107193163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107128903 107193163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107136562 107136636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107137725 107193163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107138192 107193163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107145182 107145282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107146342 107193163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107146621 107194945 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 10714692 10714792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107149858 107193163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107153204 107180597 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107153204 107192973 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107153204 107193163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107160593 107177503 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107160593 107192602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107160593 107193163 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 107174226 107174480 Gain and loss Pancreatic cancer SNP array 17952125 chr5 107174226 107174480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 107210626 107210709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107223348 107745010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 107223348 107745010 Gain and loss Pancreatic cancer SNP array 17952125 chr5 107223348 107745010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 107226384 107227220 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 107246195 107405443 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 107298757 108584564 LOH Normal High-resolution SNP genotyping 21211785 chr5 107300158 107300967 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 107312788 107312888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10731281 11126282 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 chr5 10731724 13864832 LOH Normal High-resolution SNP genotyping 21211785 chr5 10732343 10814344 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 10732343 10814344 Gain and loss Pancreatic cancer SNP array 17952125 chr5 10732355 10814337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 10732355 10814337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10732656 10732756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1074046 21490578 Copy number Lung cancer paired-end sequencing 18438408 chr5 107410378 107475020 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 107445620 107448775 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 107486235 107607974 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 107598684 107834240 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 107615677 107665247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 107696627 107696768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1077121 1077183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107713815 107713915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107775785 107776785 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 107775830 107776830 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 107807242 107807342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107832756 107832845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107840609 107840682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10786776 11908192 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 107878643 108109865 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 107880652 107880752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107903321 107903421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 107930446 107964622 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 108010573 108010673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108032094 109185962 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 108032094 109932655 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 10809139 10809662 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 10809181 10809515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 108111421 108551272 Amplification Intellectual disability 100k SNP Array 21811512 chr5 108111422 108551272 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 108111422 108551272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 108111422 108551272 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108111422 108551272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 108169546 108170213 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108191511 108191611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108218117 108218308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108255037 108255144 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108255037 108255146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 108316137 108316221 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 108335150 108335250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108352045 108397252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 10836243 10836343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108378434 108378540 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108378434 108378540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 108414762 108416057 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108414912 108416057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 108471804 108516646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 108492241 108492324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108605845 108631595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 108605906 108639751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 108618465 108630050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 108620697 108631803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 108620901 108631200 Deletion Glioma mate-paired sequence 20126413 chr5 108622974 108629020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 108626608 165766736 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 108627076 108627143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108630501 108632000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 108653001 108655000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 108662279 108714138 Gain Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 chr5 108692789 108693015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108693025 108693232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108698309 108773594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 108698309 108773594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 108698309 108773594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 108698310 108773471 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108792301 108792401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 108805439 108807318 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108821884 108822899 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108952157 108953080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 108952295 108952696 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108952724 108953071 Gain and loss Pancreatic cancer SNP array 17952125 chr5 108966403 108968337 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 109009242 109009342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10903203 10903519 Loss Normal 244K array 17666407 chr5 109050828 109051004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109051023 109051199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109053055 109231328 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 109053055 109231328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 109053055 109231328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 109053508 109230757 Gain and loss Pancreatic cancer SNP array 17952125 chr5 109063112 109063434 Gain and loss Pancreatic cancer SNP array 17952125 chr5 109063130 109063434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 109063200 109063434 Gain and loss Pancreatic cancer SNP array 17952125 chr5 109149913 109150013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109175487 109175538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109180575 109180675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109201969 109202068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109223443 109223543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 10925852 10927832 Loss Normal 244K array 17666407 chr5 109292653 109292701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109293270 109294270 Gain Renal cell carcinoma References 21215367 chr5 109308456 109308510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 109324989 109325306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 109333621 110267394 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 109389923 109404785 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 109394663 109403596 Loss Normal 244K array 17666407 chr5 10946609 10946709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1094678 1096169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 109473749 109473863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 109487001 109495100 Deletion Glioma mate-paired sequence 20126413 chr5 109487419 109503216 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 109492318 109523678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 109494430 109510915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 109496822 109517518 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 109503237 109510305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 109506564 109519268 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 109507018 109512546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 109582326 109597469 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 109598291 109598372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109600000 115200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 109600000 127300000 Loss Gastric cancer 5K BAC array CGH 17908304 chr5 10962257 11414510 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr5 109669759 110056060 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 10971951 11904110 Deletion Schizophrenia References 21956041 chr5 109786512 109786608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109877429 109877515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 10987846 10987946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 109904024 110080398 Indels Normal Affymetrix and Illumina arrays 20811451 chr5 109931539 110090271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 109931539 110090271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 109932047 110030946 Gain and loss Pancreatic cancer SNP array 17952125 chr5 109933566 109934566 Loss Chordoma References 21215367 chr5 110010902 110035840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 110022162 110065677 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 110022162 110065677 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 110048394 110048527 Gain and loss Pancreatic cancer SNP array 17952125 chr5 110048394 110048527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 110074753 110098483 Deletion Prostate cancer aCGH 22341455 chr5 110102653 110126381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 110102653 110126381 Gain and loss Pancreatic cancer SNP array 17952125 chr5 110102653 110126381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1101203 1101770 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 110143456 110143554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1102001 1347500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 110219160 110416191 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 11022426 11022509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11024959 11957110 Gain and loss Pancreatic cancer SNP array 17952125 chr5 11024978 11957110 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 11024978 11957110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 11024978 11957110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1 102800000 Gain Basal cell lymphoma Array CGH 16317097 chr5 1 102800000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr5 110306934 110307084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 110311837 110311973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 110334034 110334098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 110337010 110448344 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 1103491 1165172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1103500 1165150 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1103500 1165152 Gain and loss Pancreatic cancer SNP array 17952125 chr5 110407389 110413721 Deletion Prostate cancer aCGH 22341455 chr5 110409092 111169094 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 110419790 180629495 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 110427869 110466199 Deletion Prostate cancer aCGH 22341455 chr5 110429302 110429402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 110433311 110433411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 110433677 110441622 Gain and loss Pancreatic cancer SNP array 17952125 chr5 110435081 110441622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 110435081 110441622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 110437865 110448344 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 110443357 110474772 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 110443357 110474772 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 110446001 110490871 Copy number Lung cancer paired-end sequencing 18438408 chr5 110446557 110469538 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 110446557 110469538 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 110455769 110490556 Gain and loss Pancreatic cancer SNP array 17952125 chr5 110455769 110494099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 110455769 110494099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 110467739 115587530 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr5 110501849 110501949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 110502005 110502105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 110505378 180857866 Copy number Lung cancer paired-end sequencing 18438408 chr5 110555823 110556639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 110555823 110556639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 110560081 110820748 Deletion Prostate cancer aCGH 22341455 chr5 110567248 112020387 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 110587981 110848645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 110587981 110848645 Gain and loss Pancreatic cancer SNP array 17952125 chr5 110587981 110848645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 110589948 110590048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 110631711 110631811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 110719899 110719994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 110722842 110723163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 110773675 110773758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11080312 11080418 Gain and loss Pancreatic cancer SNP array 17952125 chr5 11080312 11080419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 110827000 113651000 LOH and copy numberLOH Colorectal cancer 50 K SNP array 21297112 chr5 110834021 110848156 Deletion Prostate cancer aCGH 22341455 chr5 110859486 111545099 LOH Normal High-resolution SNP genotyping 21211785 chr5 110861921 110876056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 110861921 110876056 Gain and loss Pancreatic cancer SNP array 17952125 chr5 110861921 110876056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 110916800 110917800 Loss Renal cell carcinoma References 21215367 chr5 110918352 110919352 Loss Renal cell carcinoma References 21215367 chr5 110919492 110919577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 110937230 110938944 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 110989909 110990909 Gain Renal cell carcinoma References 21215367 chr5 110998322 111312628 Copy number Cancer Affymetrix GeneChip Genome Wide Human SNP array 6.0 22207351 chr5 111024531 111043927 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 111040095 111040195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111045979 111078787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 11106355 11106455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111064999 111312627 Deletion Prostate cancer aCGH 22341455 chr5 111083488 111083657 Gain and loss Pancreatic cancer SNP array 17952125 chr5 111083488 111083657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 111092408 111137815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 111092408 111137815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 111092563 111092595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111092901 111121259 Gain and loss Pancreatic cancer SNP array 17952125 chr5 111120357 111122075 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 111157794 111157894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111171190 111171290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11123013 11123070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1114210 1114659 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 111441184 111441249 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 111445229 111445329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111477163 111477263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111498314 111755009 Deletion Prostate cancer aCGH 22341455 chr5 111500000 113100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 111500000 113100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 111500000 113100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 111500000 121400000 Loss Prostate cancer Array CGH 16461572 chr5 111500000 121500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 111507433 111782909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 111507433 111782909 Gain and loss Pancreatic cancer SNP array 17952125 chr5 111507433 111782909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 111513806 111513904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111524122 111525902 Gain and loss Pancreatic cancer SNP array 17952125 chr5 111525081 111525213 Gain and loss Pancreatic cancer SNP array 17952125 chr5 11162705 11162829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111658480 111658687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111658682 111658925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111670089 115677760 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr5 111683281 112393471 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 111746080 111746177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 11776854 Deletion Normal - 21701786 chr5 11178059 11178886 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 111783179 111784572 Gain and loss Pancreatic cancer SNP array 17952125 chr5 11181478 11184114 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 111849363 112604822 LOH Normal High-resolution SNP genotyping 21211785 chr5 111896396 111896496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111898415 120457337 LOH Normal High-resolution SNP genotyping 21211785 chr5 111960020 111960120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 111963522 111975406 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 112016550 112519466 LOH Normal High-resolution SNP genotyping 21211785 chr5 112043201 112181936 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr5 112043217 112181935 Deletion Prostate cancer aCGH 22341455 chr5 112043447 113151593 LOH Normal High-resolution SNP genotyping 21211785 chr5 112055990 113045444 LOH Normal High-resolution SNP genotyping 21211785 chr5 112071116 112209835 Copy number Lung cancer - 20668451 chr5 112071116 112209835 Deletion adenomatous polyposis MLPA 20649969 chr5 112071116 112209835 Gain or loss Breast cancer - 20668451 chr5 112071116 112209835 Gain or loss Cancer - 20668451 chr5 112071116 112209835 Gain or loss Lung cancer - 20668451 chr5 112071116 112209835 Gain or loss Ovarian cancer - 20668451 chr5 112071116 112209835 Gain or loss Pancreas cancer - 20668451 chr5 112071116 112209835 Gain or loss Prostate cancer - 20668451 chr5 112071116 112209835 Indels Malaria PCR,Delta Delta Ct 21533027 chr5 112071116 112209835 Loss Colorectal cancer SNP arrays 22014273 chr5 112097845 114148495 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 1 12100000 Duplication renal disease Array CGH, FISH 17924346 chr5 112101483 112209834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 112101483 112209834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112101484 112209533 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112138707 112266194 Loss or gain Normal 244K array 17666407 chr5 112141959 112142063 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112141959 112142065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112160000 115970000 Deletion Sezary syndrome Array-based CGH 18413736 chr5 112166783 112257850 Amplification or deletion Cancer Array CGH 17440070 chr5 112178131 112197746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 112196992 112203603 Deletion Prostate cancer aCGH 22341455 chr5 112212080 112258030 Deletion Prostate cancer aCGH 22341455 chr5 112224892 112231502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 112224892 112231502 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112224892 112231502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112228098 112246198 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 11223889 11223934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 112239980 112285930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 112239980 112285930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112239983 112285910 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112255125 112256690 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112255212 112256690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112277823 112277923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 112312432 112356666 Deletion Prostate cancer aCGH 22341455 chr5 112340332 112377080 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112340332 112384566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 112340332 112384566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112357795 112824526 Deletion Prostate cancer aCGH 22341455 chr5 112385695 112852010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 112385695 112852010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112388453 112748712 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112397157 113188998 LOH Normal High-resolution SNP genotyping 21211785 chr5 112505686 112506278 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 112505727 112506265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 112522448 112549411 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 112601847 112601947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 112615592 112615692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 112625511 113188998 LOH Normal High-resolution SNP genotyping 21211785 chr5 112694735 112700215 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 112717549 113651404 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 112785996 112786072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 112796150 112798585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 112796150 112798585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112796572 112798565 Deletion T-cell lymphomas Array-CGH 22341440 chr5 112797332 112798435 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112849390 112930983 Deletion Prostate cancer aCGH 22341455 chr5 112857430 112857558 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112857430 112857558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 112857916 112858016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 112877309 112958878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 112877309 112958878 Gain and loss Pancreatic cancer SNP array 17952125 chr5 112877309 112958878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 11289214 11289296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 112907501 112911500 Deletion Glioma mate-paired sequence 20126413 chr5 112909316 112909635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 112931249 113726857 Gain Autism Exome sequencing and CGH 22495309 chr5 112941833 112974949 Gain Autism Exome sequencing and CGH 22495309 chr5 112973807 113019051 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 113060747 115678259 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 113100000 115200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 113105609 113105709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113111375 113111475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11311200 11311298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113147063 113147163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113264540 113264640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1133286 1133395 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1133302 1133411 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 113338597 113338693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113355383 113360599 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 113486937 113487259 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1 135400000 Loss Metanephric adenoma Oligo aCGH 20802469 chr5 113551960 113586845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 113555894 113555987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113581511 113581611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113617109 113617337 Gain and loss Pancreatic cancer SNP array 17952125 chr5 113617109 113617337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 113617109 113617369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 11364042 11365788 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 113662867 113662967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113670385 114238660 LOH Normal High-resolution SNP genotyping 21211785 chr5 113698015 113832196 Deletion Prostate cancer aCGH 22341455 chr5 1137222 1137280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113724501 113727000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 113725565 113860096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 113725565 113860096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 113725915 113860096 Gain and loss Pancreatic cancer SNP array 17952125 chr5 113735740 113744662 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 113797125 113860096 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 113824359 113954835 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 11385001 11916300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 11390201 11394300 Deletion Glioma mate-paired sequence 20126413 chr5 11391055 11391277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11391147 11391275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11392026 11392349 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 113948457 113948557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113961171 113961271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 113979007 114000709 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 114000709 114001657 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 114041728 114043755 Loss Normal 244K array 17666407 chr5 114041729 115522818 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 114059896 114060281 Gain and loss Pancreatic cancer SNP array 17952125 chr5 11406101 11691501 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 114091932 114092085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114092080 114092266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114118616 114118700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11413893 12236983 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 11413893 15762298 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 chr5 114155762 114155862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11421381 11421481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114262330 114290815 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 114269661 114316296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 114274641 114296520 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 114286744 114286843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114346575 114371540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 114346679 114387197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 114349454 114366656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 114351401 114364400 Deletion Glioma mate-paired sequence 20126413 chr5 114353221 114362856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 114355254 114355493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114397764 115522818 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 114421563 114421829 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 114460458 114516242 Deletion Prostate cancer aCGH 22341455 chr5 114488357 114544142 Gain or loss Breast cancer - 20668451 chr5 114488357 114544142 Gain or loss Cancer - 20668451 chr5 114488357 114544142 Gain or loss Lung cancer - 20668451 chr5 114488357 114544142 Gain or loss Ovarian cancer - 20668451 chr5 114488357 114544142 Gain or loss Pancreas cancer - 20668451 chr5 114488357 114544142 Gain or loss Prostate cancer - 20668451 chr5 114488366 114543758 Gain and loss Pancreatic cancer SNP array 17952125 chr5 114488377 114544142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 114488377 114544142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 114538469 114538569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11454028 12464276 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 114546526 114598568 Deletion Prostate cancer aCGH 22341455 chr5 114549247 114549430 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 114556408 114556508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114575476 114626449 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 114575476 114626449 Gain and loss Pancreatic cancer SNP array 17952125 chr5 114575476 114626449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 114602884 114632457 Deletion Prostate cancer aCGH 22341455 chr5 114617180 114617280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114628301 114628880 Gain and loss Pancreatic cancer SNP array 17952125 chr5 114630784 114660357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 114630784 114660357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 114631241 114659864 Gain and loss Pancreatic cancer SNP array 17952125 chr5 11466927 11467027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114733106 114734341 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 114734342 114748980 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 114734342 114748984 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 114739517 114739736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114739616 114739716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114755296 114755448 Gain and loss Pancreatic cancer SNP array 17952125 chr5 114755296 114755448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 114757201 114761500 Deletion Glioma mate-paired sequence 20126413 chr5 114759212 114759529 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 114759511 114767621 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 114777396 114782322 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 114782301 114787900 Deletion Glioma mate-paired sequence 20126413 chr5 114784536 114787066 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 114784536 114787066 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 114786739 114786819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114856607 114880590 Deletion Prostate cancer aCGH 22341455 chr5 114877024 114878024 Gain Renal cell carcinoma References 21215367 chr5 114878768 114878855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114882638 114882738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114884507 114908490 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 114884507 114908490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 114884507 114908490 Gain and loss Pancreatic cancer SNP array 17952125 chr5 114884507 114908490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 114913231 114914231 Loss Renal cell carcinoma References 21215367 chr5 114914338 114938108 Deletion Prostate cancer aCGH 22341455 chr5 114942238 114989757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 114942238 114989757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 114942246 114989610 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 114942247 114989610 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 114942247 114989621 Gain and loss Pancreatic cancer SNP array 17952125 chr5 114948904 114961875 Deletion Prostate cancer aCGH 22341455 chr5 114977101 114989595 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 114988711 114988775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114992303 114992403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 114995201 114999700 Deletion Glioma mate-paired sequence 20126413 chr5 115018477 115018549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1 15100000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 115113407 115113507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 115117417 115117506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 115137915 115138098 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115137915 115138098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115137918 115138098 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115140429 115152404 Deletion Prostate cancer aCGH 22341455 chr5 115158368 115158716 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 115163892 115177547 Deletion Prostate cancer aCGH 22341455 chr5 115168331 115180255 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115168333 115180304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 115168333 115180304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 115168333 115180304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115177618 115249777 Deletion Prostate cancer aCGH 22341455 chr5 115179821 115179911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 115193714 115205398 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 115193714 115205398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 115193714 115205398 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115193714 115205398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115193714 115205398 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 115200000 121400000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 115200000 121400000 Loss Esophageal squamous carcinoma Array CGH 17470683 chr5 115200000 121500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 115200000 121500000 Copy number Glaucoma Affymetrix 500K two-chip SNP array 21310917 chr5 115200000 121500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 115200000 121500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 115200000 121500000 Translocation Breast cancer transcriptome sequencing 19181860 chr5 115200000 130400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 115200000 130600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 115200000 180915260 Loss Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 chr5 115205239 115277591 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 115205518 115277675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 115205518 115277675 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115205518 115277675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1152460 1152539 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 115261015 115369537 Duplication Depressive disorder Perlegen 600K platform 21152026 chr5 1 15300000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr5 115325501 115327000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 115325748 115326215 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115326170 115391199 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 115326170 115391199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 115326170 115391199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115326214 115391197 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115347784 115348784 Gain Renal cell carcinoma References 21215367 chr5 115348662 115349662 Gain Renal cell carcinoma References 21215367 chr5 115393614 115393707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115394196 115394267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11540585 11571704 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr5 115406767 115406857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115415506 115415880 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115420726 115628977 Deletion Prostate cancer aCGH 22341455 chr5 115448622 115656882 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 115448622 115656882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 115448622 115656882 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115448622 115656882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115464273 115478809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 115483109 115484818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 115498884 115498996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 115517964 115521512 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr5 115529614 115544817 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr5 115529643 115529796 Loss Normal 244K array 17666407 chr5 115536176 115536257 Gain Normal 244K array 17666407 chr5 115540024 115554307 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 115543885 115544053 Gain Normal 244K array 17666407 chr5 115552051 115552148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115581640 115581891 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115581664 115581891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115633018 115875945 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 115633018 117078267 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 115663670 115710216 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 115682772 115683772 Gain Renal cell carcinoma References 21215367 chr5 115697912 115742755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 115714851 115714951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 115721065 115848325 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 115726533 115729036 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 115778532 115848325 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 115779250 115910550 Deletion Prostate cancer aCGH 22341455 chr5 115781818 115795752 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 115784102 115807349 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 115793671 115793766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 115807150 115938529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 115807150 115938529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 115807247 115938529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 115807247 115938529 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115833594 115833691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 115913181 115913757 Indels Normal Affymetrix and Illumina arrays 20811451 chr5 115922036 115922356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 115926208 115926608 Gain and loss Pancreatic cancer SNP array 17952125 chr5 115936001 115937500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 115986029 115986116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 116005824 116005918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 116036273 116037273 Gain Renal cell carcinoma References 21215367 chr5 116036409 116036709 Loss Renal cell carcinoma References 21215367 chr5 116073697 116623035 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 116079834 116080285 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 116079834 116080285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 116079834 116080287 Gain and loss Pancreatic cancer SNP array 17952125 chr5 116112565 116131942 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 116145701 116146701 Gain Renal cell carcinoma References 21215367 chr5 116226726 116253818 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 116226943 116352837 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 116236493 116328132 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 116239195 116390012 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 116241302 116241340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 116249973 116250031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 116255658 117743025 LOH Normal High-resolution SNP genotyping 21211785 chr5 116256965 116257065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 116282234 116282318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 116316440 116316590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 116373388 116418482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 116390465 117120844 LOH Normal High-resolution SNP genotyping 21211785 chr5 116416004 116441544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 116456082 116456399 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 116457463 117174649 LOH Normal High-resolution SNP genotyping 21211785 chr5 116514402 117120844 LOH Normal High-resolution SNP genotyping 21211785 chr5 116581728 117078267 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 116638827 116638927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11665493 19050273 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr5 116722408 116722731 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 116728213 116729213 Loss Renal cell carcinoma References 21215367 chr5 116728965 116729265 Loss Renal cell carcinoma References 21215367 chr5 116863969 116864274 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 11690437 11690522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 116930000 118270000 Loss Breast cancer aCGH 21509527 chr5 116966604 116966738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117096799 117096899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117133409 117416984 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 117142420 117142614 Gain and loss Pancreatic cancer SNP array 17952125 chr5 117142420 117142614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 117233910 117234010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11724825 11735445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 117258970 117259034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117269389 117405572 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 117269389 117405572 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 117303140 117974941 LOH Normal High-resolution SNP genotyping 21211785 chr5 117332069 117974941 LOH Normal High-resolution SNP genotyping 21211785 chr5 117349957 117963737 LOH Normal High-resolution SNP genotyping 21211785 chr5 117386929 117387074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117393468 117438314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 117405572 119150186 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 117408842 117408942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117409638 117409988 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 117410618 117427642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 117412033 117423817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 117414505 117432226 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 117414998 117421782 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 117415057 117423898 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 117432239 117538631 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 117432240 119784672 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 117443658 117443758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117474394 117474494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117476993 117477112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 117508088 117508161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117514060 117514099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117540597 117662529 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 117553979 117554233 Gain Normal 244K array 17666407 chr5 117675746 117675846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117692624 117970146 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 117710052 117710152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117858028 117858128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117896122 117896431 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 117923804 117927807 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 117929567 117929645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117943793 117943893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117950914 122015240 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 117951768 117951874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117960280 117960359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117962602 119093242 LOH Normal High-resolution SNP genotyping 21211785 chr5 117986501 117986601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 117987357 119065543 LOH Normal High-resolution SNP genotyping 21211785 chr5 11800675 11800770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118038953 118668070 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 1 180857866 Deletion,amplification,duplication Normal Affymetrix 250K SNP array 21412953 chr5 1 180857866 Gain Acute lymphoblastic leukemia array CGH 17690704 chr5 1 180857866 Gain Ewing's sarcoma Karyotyping and CGH(Reference) 21437220 chr5 1 180857866 Gain Gastrointestinal stromal cancer array CGH 16982739 chr5 1 180857866 Gain Glioblastoma multiforme aCGH 21080181 chr5 1 180857866 Gain Medulloblastoma SNP arrays 21979893 chr5 1 180857866 Gain Normal - 20616218 chr5 1 180857866 Gain Phyllodes tumor CGH 17334353 chr5 1 180857866 Indels Malaria PCR,Delta Delta Ct 21533027 chr5 1 180857866 Indels Normal Affymetrix 6.0 array 21223598 chr5 1 180857866 Loss Glioblastoma multiforme aCGH 21080181 chr5 1 180857866 Loss Glioblastoma multiforme conventional CGH 21080181 chr5 1 180857866 Trisomy Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 chr5 118121806 118121866 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118155676 119257368 LOH Normal High-resolution SNP genotyping 21211785 chr5 118158094 118704114 LOH Normal High-resolution SNP genotyping 21211785 chr5 118163571 118163662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118172568 118324239 Deletion Prostate cancer aCGH 22341455 chr5 118203135 118352139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 118203135 118352139 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118203135 118352139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118337159 118337724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118337390 118337719 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118350171 118350251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118371165 118371246 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118371165 118371271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118371165 118371300 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1 18400000 Copy number Lung cancer FISH 19547694 chr5 11840611 11840711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118407083 118584821 Deletion Prostate cancer aCGH 22341455 chr5 118432892 118432994 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118432892 118432994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118434983 118612721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 118434983 118612721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118435084 118612721 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118437762 118487338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 118468045 118472903 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118470274 118492276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118475496 118494230 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118475977 118507627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118477080 118496857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118479467 118502561 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118479478 118490164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118479708 118495365 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118497356 118497356 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr5 1 18500000 Copy number Cancer ICA method 16751803 chr5 1 18500000 Copy number Cri-du chat syndrome MLPA 22283845 chr5 1 18500000 Gain Cancer array-based techniques 21183584 chr5 1 18500000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 1 18500000 Gain Disorders of sex development oligo V6.3 21048976 chr5 1 18500000 Gain Non-small cell lung cancer In situ minichips 20864512 chr5 1 18500000 Loss Cancer array-based techniques 21183584 chr5 1 18500000 Loss Honadal dysgenesis oligo V6.2 21048976 chr5 118502453 118502559 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118502453 118502559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118514725 118514819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118540578 118540678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118544777 118617384 Gain Autism qPCR 20531469 chr5 118604417 118730293 Deletion Prostate cancer aCGH 22341455 chr5 118629674 120190948 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 118632316 118758193 Copy number Gastric cancer Human cDNA microarrays 17229543 chr5 118644942 118645042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118669936 118670225 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118669938 118670225 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118669938 118670225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 11868101 11872100 Deletion Glioma mate-paired sequence 20126413 chr5 118734017 118735017 Gain Renal cell carcinoma References 21215367 chr5 118735125 118736125 Gain Renal cell carcinoma References 21215367 chr5 118752897 118756975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 118752897 118756975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118756403 118756975 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118778158 118823275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 118788147 118878026 Deletion Prostate cancer aCGH 22341455 chr5 118809310 118809427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118809314 118809418 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118809315 118809429 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118816103 118905926 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118816122 118905923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 118816122 118905923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118822835 118822935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118910725 118911200 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118910725 118911209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118965253 118971516 Deletion Prostate cancer aCGH 22341455 chr5 118973796 118973899 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118973796 118973899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 118977491 118977609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118977538 118977636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118977724 118977834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118987924 118988012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 118993153 118999415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 118993153 118999415 Gain and loss Pancreatic cancer SNP array 17952125 chr5 118993153 118999415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 119000000 163000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 chr5 119037869 119942975 LOH Normal High-resolution SNP genotyping 21211785 chr5 119043044 119043363 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 119054602 119054716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119055910 119089805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 119065973 119069590 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 119200299 119201299 Gain Chordoma References 21215367 chr5 119226550 119226650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119257880 119257939 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr5 119405803 119410759 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 119406885 119415553 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 119406885 119415553 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 119408043 119408213 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 119408220 119410579 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 119431720 119431820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119485637 119730325 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 119555784 119654460 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 119579938 119580038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119584916 119584976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 119589701 119589801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 11959312 12409732 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 119641592 119642592 Loss Renal cell carcinoma References 21215367 chr5 119643634 119656505 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 119666783 119667509 Gain and loss Pancreatic cancer SNP array 17952125 chr5 119673828 119674539 Gain and loss Pancreatic cancer SNP array 17952125 chr5 119701143 119701247 Gain and loss Pancreatic cancer SNP array 17952125 chr5 119701143 119701247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 119769881 119769981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119770467 119770567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119782236 119782283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119786026 119786105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119800018 120022964 Deletion Prostate cancer aCGH 22341455 chr5 119827918 120050926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 119827918 120050926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 119832346 119832446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119844798 120050303 Gain and loss Pancreatic cancer SNP array 17952125 chr5 11985451 11985536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119890594 120036691 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 119938126 119938725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 119942975 120742380 LOH Normal High-resolution SNP genotyping 21211785 chr5 119956639 119956711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 119992163 119992254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120074289 120074434 Gain and loss Pancreatic cancer SNP array 17952125 chr5 120074292 120074434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 120074294 120074434 Gain and loss Pancreatic cancer SNP array 17952125 chr5 120106859 120106959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120140353 120140453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120190948 123763140 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 12021881 12021981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120291323 121203720 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 120340918 120341232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 120353824 121795135 LOH Normal High-resolution SNP genotyping 21211785 chr5 120358347 120358614 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 120360303 120360403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120394780 120394850 Gain and loss Pancreatic cancer SNP array 17952125 chr5 120394780 120394850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 120408424 120876659 Gain Normal 244K array 17666407 chr5 120427023 120506950 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 120431237 120431304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120457337 120484010 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 120484010 123553302 LOH Normal High-resolution SNP genotyping 21211785 chr5 120619324 180629495 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 120642784 120642934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120660119 120660219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120661839 120661924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 120677412 120680246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 120686051 120718084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 120755337 120755457 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 12087304 12261440 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 12090490 12090569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 120979841 120980405 Gain and loss Pancreatic cancer SNP array 17952125 chr5 120979841 120980405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1210381 1210967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 121041627 121041711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121061439 126892025 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 121065582 121065673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12107482 12107582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121085101 121089900 Deletion Glioma mate-paired sequence 20126413 chr5 121087131 121087909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 121122924 121123012 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 121187649 121188527 Deletion Prostate cancer aCGH 22341455 chr5 121215549 121216418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 121215549 121216418 Gain and loss Pancreatic cancer SNP array 17952125 chr5 121215549 121216418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 121226249 121226329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121239910 121240010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12124427 12124525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1212658 1645795 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr5 121272465 121272565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1212750 1378766 Amplification Cancer Affymetrix 250K Sty array 20164920 chr5 121279443 121279543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121280168 121280268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121297655 121364294 Deletion Prostate cancer aCGH 22341455 chr5 121322602 121322908 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 121325555 121391528 Gain and loss Pancreatic cancer SNP array 17952125 chr5 121325555 121392194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 121325555 121392194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 121329951 121330042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121370291 121371347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 121398889 121414054 Deletion Prostate cancer aCGH 22341455 chr5 121400000 127300000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 chr5 121405834 121405934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121427436 122921459 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 121429917 121441853 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 121429918 121441853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 121429918 121441853 Gain and loss Pancreatic cancer SNP array 17952125 chr5 121429918 121441853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 121455129 121563537 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 121465214 121489265 Deletion Prostate cancer aCGH 22341455 chr5 121470306 121470701 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 121470308 121470697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 121493114 121517156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 121493114 121517156 Gain and loss Pancreatic cancer SNP array 17952125 chr5 121493114 121517156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 121500000 127300000 Copy number Breast cancer - 16397240 chr5 121500000 127300000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr5 121500000 130400000 Gain Glioblastoma multiforme aCGH 21080181 chr5 121500000 139000000 Loss Carcinoma ex pleomorphic adenoma array-CGH 18828159 chr5 121500000 143100000 Loss Malignant fibrous histiocytomas aCGH 21085701 chr5 1 215000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 121525845 121525945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121552864 121552964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121600957 121634618 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 121602201 121610500 Deletion Glioma mate-paired sequence 20126413 chr5 121604015 121608707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 121647819 121799793 Deletion Prostate cancer aCGH 22341455 chr5 121657665 121657735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121675719 121827693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 121675719 121827693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 121675801 121827648 Gain and loss Pancreatic cancer SNP array 17952125 chr5 121728311 121728411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12173163 12173263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121761909 121762009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121800093 121842681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 121817993 121842341 Gain and loss Pancreatic cancer SNP array 17952125 chr5 121877124 121877224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121893721 121893821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121897593 121897693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 121979782 121980082 Loss Renal cell carcinoma References 21215367 chr5 122018298 122018398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122026225 122585770 LOH Normal High-resolution SNP genotyping 21211785 chr5 122067168 122918564 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 122096317 122096406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122110749 122165802 Deletion Prostate cancer aCGH 22341455 chr5 122124784 122124884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122138649 122193699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 122138649 122193699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122140025 122140121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122181159 122344901 Deletion Prostate cancer aCGH 22341455 chr5 122209170 122372796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 122209170 122372796 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122209170 122372796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122302254 122302576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 122305614 122305646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122315353 122315453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1223372 1223922 Gain Normal aCGH 21627829 chr5 122359077 122372424 Deletion Prostate cancer aCGH 22341455 chr5 122386083 122386377 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122386083 122386377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122386979 122400324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 122386979 122400324 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122386979 122400324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 12239488 12239791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 122424593 122424693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122424840 122523744 Deletion Prostate cancer aCGH 22341455 chr5 12242508 12242608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122434376 122434672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122434376 122434674 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122434377 122434674 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122447416 122447496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122450001 122464000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 122452715 122551644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 122452715 122551644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122452737 122551594 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122473573 122508046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 122483153 122483241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122488726 122488826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122497324 122497403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122553482 122553562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122559221 122559317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122582598 122582806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122599668 122599966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122599674 122599951 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122599894 122599994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122620326 122620416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122622412 122622512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122632962 122747543 Copy number Lung cancer - 20668451 chr5 122632962 122747543 Gain or loss Breast cancer - 20668451 chr5 122632962 122747543 Gain or loss Cancer - 20668451 chr5 122632962 122747543 Gain or loss Lung cancer - 20668451 chr5 122632962 122747543 Gain or loss Ovarian cancer - 20668451 chr5 122632962 122747543 Gain or loss Pancreas cancer - 20668451 chr5 122632962 122747543 Gain or loss Prostate cancer - 20668451 chr5 12265401 12265466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122657714 122660186 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 122680578 122759285 Deletion Prostate cancer aCGH 22341455 chr5 122708478 122787151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 122708478 122787151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1227092 1272145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 122709997 122786937 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122724312 122725312 Loss Cancer Human 24 color M-FISH 21215367 chr5 122724312 122725312 Loss Renal cell carcinoma References 21215367 chr5 122735445 122769697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 122751603 122751658 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 122751607 122751662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 122764536 122765900 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122770645 122770715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122832370 122832785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122836412 122849913 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 122847792 122952464 Deletion Prostate cancer aCGH 22341455 chr5 122853295 122853395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 122874029 122874130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122874030 122874130 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122874031 122874130 Gain and loss Pancreatic cancer SNP array 17952125 chr5 122875692 122980638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 122875692 122980638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 122909227 122979047 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1229601 1235400 Deletion Glioma mate-paired sequence 20126413 chr5 122999862 123000623 Gain and loss Pancreatic cancer SNP array 17952125 chr5 12300176 14504734 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 123018501 123018910 Gain and loss Pancreatic cancer SNP array 17952125 chr5 123018501 123018910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 123020657 123044567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 123050591 123050738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 12307834 12470170 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 123091466 123091550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1231138 1233723 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 1231138 1233723 Loss Normal aCGH 21627829 chr5 123124284 123124749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 123124487 123124749 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1231294 1233732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 123159487 123159587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 123179020 123179120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1231950 1232951 Gain Normal 244K array 17666407 chr5 123200171 123200271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12320502 12320602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 23300000 Gain Breast cancer Microarray-based CGH 17133270 chr5 123368615 123763140 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 1233786 1233873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 123429181 123460172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 123476074 123476163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12350511 12350615 Gain and loss Pancreatic cancer SNP array 17952125 chr5 12350511 12350615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 123529207 123529307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 123569638 123569736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 123584496 123584648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 123594011 124653338 LOH Normal High-resolution SNP genotyping 21211785 chr5 123703002 123703087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 123780488 123780588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 123823730 123823776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 123839232 123839332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12387952 12432645 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 123880621 123880715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 123972609 124080804 Deletion Prostate cancer aCGH 22341455 chr5 123983423 123983511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 123994027 124108704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 123994027 124108704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 124000509 124108704 Gain and loss Pancreatic cancer SNP array 17952125 chr5 124006707 124006800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124058356 124058456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124079201 124079301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124097158 124098158 Loss Renal cell carcinoma References 21215367 chr5 124097383 124098383 Gain Cancer Human 24 color M-FISH 21215367 chr5 124097383 124098383 Gain Renal cell carcinoma References 21215367 chr5 124147613 124147814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124159516 124597462 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 124172418 124172823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 124240033 124240127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124276493 124276571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124345376 124345476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12434864 12630738 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 124350975 131259069 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr5 124391181 157216334 Deletion Acute myeloid leukemia - 21251322 chr5 124391735 124392060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 124404266 124436575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 124404927 124429399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1244347 1245032 Gain Normal aCGH 21627829 chr5 1244697 1245362 Loss Normal aCGH 21627829 chr5 124485447 125893742 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 124485447 126929018 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 124490817 124490887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124510990 124593631 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 124512239 124512290 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 12452671 12963368 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 124559598 124559661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1245823 1246159 Gain Normal 244K array 17666407 chr5 124628855 124629369 Gain and loss Pancreatic cancer SNP array 17952125 chr5 124653338 124665854 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 124665854 130889564 LOH Normal High-resolution SNP genotyping 21211785 chr5 1 24700000 Gain Hepatocellular carcinoma CGH 22174799 chr5 124714416 124714723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 124714487 124714723 Gain and loss Pancreatic cancer SNP array 17952125 chr5 124714487 124714723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 124745245 124745566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 12477514 12477614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12477801 12481300 Deletion Glioma mate-paired sequence 20126413 chr5 124786930 124807703 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 124792308 124811387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 124793928 124794636 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr5 1249108 1249291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 124927652 124972815 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 124936476 124936576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124939014 124939098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 124964781 124964881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1250617 1255881 Copy number Autism exome sequencing 22495311 chr5 125078762 125315808 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 125129370 125129445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125133512 125133793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 12513751 29785240 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 125175837 125176837 Loss Renal cell carcinoma References 21215367 chr5 125198984 125199062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125207644 125207744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125245000 180625000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 125300000 156873000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 125314690 125314745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 125413025 125437624 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 1254710 1276375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1254710 1276375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1254710 1276385 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1254710 1276385 Gain and loss Pancreatic cancer SNP array 17952125 chr5 125477081 125477175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125503105 161513040 Deletion Myelodysplastic syndrome - 21251322 chr5 125535172 125535272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12562476 12562576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125695787 125829852 Deletion Prostate cancer aCGH 22341455 chr5 125734719 125734814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125759165 125759212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125779858 125779958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125787000 125857945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 125787000 125857945 Gain and loss Pancreatic cancer SNP array 17952125 chr5 125787000 125857945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 12578860 12716534 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr5 125800123 125800223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 125828360 125832397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 125842236 125886927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 125869017 125869226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 125878917 125931081 Deletion Prostate cancer aCGH 22341455 chr5 125905432 125959009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 125905432 125959009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 125908348 125958756 Gain and loss Pancreatic cancer SNP array 17952125 chr5 125916874 125916993 Gain and loss Pancreatic cancer SNP array 17952125 chr5 125916886 125916989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 125916894 125916992 Gain and loss Pancreatic cancer SNP array 17952125 chr5 125936606 125962943 Deletion Prostate cancer aCGH 22341455 chr5 125964506 125990326 Gain and loss Pancreatic cancer SNP array 17952125 chr5 125964532 125988979 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 125964532 125988979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 125991608 125991910 Gain and loss Pancreatic cancer SNP array 17952125 chr5 125995305 125999873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 125995305 125999873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 125995313 125999873 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126026848 126027241 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126026919 126027241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126057451 127680141 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 126060605 126060705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126071758 126071831 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126071758 126071831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126109763 126111412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 126118914 126119008 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126118914 126119008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126140214 126200603 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126140732 126200608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 126140732 126200608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126148750 126148829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126175003 126175059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126215025 126217657 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126221783 126964911 LOH Normal High-resolution SNP genotyping 21211785 chr5 126233454 126394149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 126233454 126394149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126233458 126394149 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126262789 126265682 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr5 126288204 126288304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126290990 126291090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12638759 12638859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126393501 126395000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 126415368 126437071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126415377 126422586 Gain and loss Pancreatic cancer SNP array 17952125 chr5 12642411 13643526 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 126486277 126486714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 126497120 126497220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126506225 126507528 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126506225 126507528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126610910 126611050 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 126654514 126824807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 126654514 126824807 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126654514 126824807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126660459 126660591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126674601 126674701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126699607 126699670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 126735401 126735501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126768346 126768416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126769308 126769408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126785351 126785451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12680678 12713711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 126860246 126860346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126862941 172940275 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 126865191 126865284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126875086 126876302 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126881238 126918677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 126881238 126918677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 126887057 126918671 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126906570 126907002 Gain and loss Pancreatic cancer SNP array 17952125 chr5 126906653 126906753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1269124 1278695 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 126923356 126923456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126927130 126927222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126927418 126948241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 126933867 127065718 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 126966838 126966938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 126970232 126970558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 127012635 127022221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 127012635 127022221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 127066983 127305059 Gain and loss Pancreatic cancer SNP array 17952125 chr5 127083993 127084993 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 127089135 127423299 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 127101718 127102718 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 127161803 127195655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 127179598 127224248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 127195583 127723043 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-484K arrays 21546498 chr5 127198301 127202800 Deletion Glioma mate-paired sequence 20126413 chr5 127200230 127201179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 12728324 12849958 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 12728510 12812105 Loss Normal aCGH 21627829 chr5 127287315 127767655 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 127300000 130400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 127300000 130400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 127300000 130600000 Loss Esophageal squamous carcinoma Array CGH 17470683 chr5 127300000 135400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 127300000 149800000 Gain Basal cell lymphoma Array CGH 16317097 chr5 127300000 149800000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr5 127300000 180857866 Gain Renal cell carcinoma Affymetrix GeneChip Human Mapping 10K Array 18592004 chr5 12732228 12732284 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 127361901 127366600 Deletion Glioma mate-paired sequence 20126413 chr5 127363687 127364753 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 127363900 127364833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 127377081 128771181 LOH Normal High-resolution SNP genotyping 21211785 chr5 12737830 12749336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 127408961 127409239 Gain and loss Pancreatic cancer SNP array 17952125 chr5 127428279 135124347 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 127433113 127473521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 127434001 127440400 Deletion Glioma mate-paired sequence 20126413 chr5 127434870 127438859 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 127435339 127438815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 127447357 127553278 Gain and loss Pancreatic cancer SNP array 17952125 chr5 127447382 127553278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 127447382 127553278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 127595103 131757872 LOH Normal High-resolution SNP genotyping 21211785 chr5 127621500 127901634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 127621500 127901634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 127621628 127901195 Gain and loss Pancreatic cancer SNP array 17952125 chr5 127734691 127734804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 127734693 127734804 Gain and loss Pancreatic cancer SNP array 17952125 chr5 127804627 127806206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 127820571 127853788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1278470 1299303 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1278470 1299303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1278470 1299303 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1278470 1299303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 127854462 127854494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 127863791 127863891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12789319 12879576 Gain Stenocardia MACArray Karyo 30K BAC-chips 21860640 chr5 12789319 12879576 Gain Vasospasm MACArray Karyo 30K BAC-chips 21860640 chr5 127900501 127903000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 12794215 12838861 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 127999452 128674294 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 128026678 128529519 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 128035112 128035212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128041191 128041263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128041423 128882292 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 128055998 128761547 LOH Normal High-resolution SNP genotyping 21211785 chr5 128056673 128056757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128075080 128119920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 128088049 128704366 LOH Normal High-resolution SNP genotyping 21211785 chr5 128101973 128102062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128197139 129064415 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 12822657 12822710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 128233579 128233679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128258478 128258577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12827101 13864400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 128314663 128314813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128328720 128397233 Gain and loss Pancreatic cancer SNP array 17952125 chr5 128328958 128331153 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 128329109 128397234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 128329109 128397234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 128355691 128355776 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 12835922 13892494 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 128361272 128597735 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 128361272 128597735 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 128383546 128383613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128388330 128423179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 12839321 13039901 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 128406581 128406891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 12843869 12853889 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 12844709 12886856 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 128458341 128477620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 128458341 128477620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 128458343 128477612 Gain and loss Pancreatic cancer SNP array 17952125 chr5 12846532 13665652 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 128499668 128499768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 12853877 12877411 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 12853877 12886857 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 12853877 12902201 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 12853878 12902200 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 12853889 12868779 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 128556470 128556556 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 128557521 128557621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128582657 128582757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128588329 128588429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128589254 131746782 LOH Normal High-resolution SNP genotyping 21211785 chr5 128593792 129475223 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 128603180 128634204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 128623637 128862751 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 12863977 12873331 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 12864030 12902553 Loss or gain Normal 244K array 17666407 chr5 12864356 12873574 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 12864356 12873574 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 128674129 129695445 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 12868768 12873064 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 12868768 12891521 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 12868768 12891521 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 12868768 12910327 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 12868780 12879650 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 12868780 12879650 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 128712522 128712622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 28725638 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-493K arrays 21546498 chr5 128761547 131340619 LOH Normal High-resolution SNP genotyping 21211785 chr5 128771181 129465061 LOH Normal High-resolution SNP genotyping 21211785 chr5 128771181 129471391 LOH Normal High-resolution SNP genotyping 21211785 chr5 128777676 128812901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 128824002 129100971 Gain and loss Pancreatic cancer SNP array 17952125 chr5 128824002 129102275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 128824002 129102275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 128831548 128831640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128838381 128864268 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 12884397 12884497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128846012 129478890 LOH Normal High-resolution SNP genotyping 21211785 chr5 128882095 128882195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128882292 129472350 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 1 28900000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr5 1 28900000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr5 128982788 129015174 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 128992793 128992891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 128994226 128994326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129006032 131361872 LOH Normal High-resolution SNP genotyping 21211785 chr5 129018383 129018483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129022539 129022639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129025555 129025655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129092795 129093795 Gain Renal cell carcinoma References 21215367 chr5 129099206 131292599 LOH Normal High-resolution SNP genotyping 21211785 chr5 129099206 131802508 LOH Normal High-resolution SNP genotyping 21211785 chr5 129124054 129128655 Gain and loss Pancreatic cancer SNP array 17952125 chr5 129124054 129128655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 12913015 12913115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1291385 1291757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 129230000 131960000 Loss Acute lymphoblastic leukemia - 21339820 chr5 129231795 131871654 LOH Normal High-resolution SNP genotyping 21211785 chr5 129268422 129269396 Gain and loss Pancreatic cancer SNP array 17952125 chr5 129268422 129549383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 129271794 129549383 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1 29300000 Gain Normal Human genome CGH 62k ARRAY PLATFORM 22144094 chr5 129312887 129312987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129337634 131757872 LOH Normal High-resolution SNP genotyping 21211785 chr5 129338483 129338562 Gain and loss Pancreatic cancer SNP array 17952125 chr5 129338483 129338562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 129338483 129338591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 129367156 129884973 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 129411450 129411728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 129471391 129539820 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 129477995 129478084 Gain and loss Pancreatic cancer SNP array 17952125 chr5 129477999 129478093 Gain and loss Pancreatic cancer SNP array 17952125 chr5 129478004 129478093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 129489033 129489132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129499470 131148382 LOH Normal High-resolution SNP genotyping 21211785 chr5 129499470 132401898 LOH Normal High-resolution SNP genotyping 21211785 chr5 129508401 131871654 LOH Normal High-resolution SNP genotyping 21211785 chr5 129539820 131871654 LOH Normal High-resolution SNP genotyping 21211785 chr5 129552191 129637892 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 129568968 129614942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 12959827 13894459 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 129600000 132200000 Copy number Kartagener syndrome reference 16639409 chr5 129627767 130138355 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 129637892 131871654 LOH Normal High-resolution SNP genotyping 21211785 chr5 129641775 129646115 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 129675914 132193654 LOH Normal High-resolution SNP genotyping 21211785 chr5 129735619 131871654 LOH Normal High-resolution SNP genotyping 21211785 chr5 129746436 131361872 LOH Normal High-resolution SNP genotyping 21211785 chr5 129750212 129750271 Gain and loss Pancreatic cancer SNP array 17952125 chr5 129761623 129761707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129768628 129768728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129917806 132199911 LOH Normal High-resolution SNP genotyping 21211785 chr5 129934046 129934146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 129964153 129964233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130098933 130316104 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 130129922 130177152 Gain Autism - 20841430 chr5 130164401 130164433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130174413 131883333 LOH Normal High-resolution SNP genotyping 21211785 chr5 130174413 132178908 LOH Normal High-resolution SNP genotyping 21211785 chr5 130174876 130174908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130194178 131871654 LOH Normal High-resolution SNP genotyping 21211785 chr5 130353486 130354020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 130353489 130354020 Gain and loss Pancreatic cancer SNP array 17952125 chr5 130357858 130358375 Gain and loss Pancreatic cancer SNP array 17952125 chr5 130359642 130359742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130360261 130360757 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 130387114 131043245 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 130400000 135400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 130400000 135400000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 chr5 130400000 135400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 130400000 135400000 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr5 130400000 139000000 Loss Glioblastoma multiforme aCGH 21080181 chr5 130400000 139000000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr5 130400000 143100000 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr5 130400000 143100000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr5 130400000 143100000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr5 130400000 143100000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr5 130400000 147200000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr5 130400000 159900000 Deletion Normal oligonucleotide-based aCGH 21744490 chr5 130424770 131348564 LOH Normal High-resolution SNP genotyping 21211785 chr5 130424770 131871654 LOH Normal High-resolution SNP genotyping 21211785 chr5 130440563 131348564 LOH Normal High-resolution SNP genotyping 21211785 chr5 130466896 130619811 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 130466896 130619811 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr5 130517661 130517970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 130522776 130528935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 130522883 130528935 Gain and loss Pancreatic cancer SNP array 17952125 chr5 130533138 130534138 Loss Renal cell carcinoma References 21215367 chr5 130534535 130564929 Gain and loss Pancreatic cancer SNP array 17952125 chr5 130534535 130569018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 130557278 130557378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130592742 130592827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130599502 131860914 LOH Normal High-resolution SNP genotyping 21211785 chr5 130600000 136200000 Deletion Acute myeloid leukemia Human Genome CGH 44k microarrays 17377590 chr5 130600000 136200000 Deletion Colorectal cancer PCR 16912164 chr5 130600000 144500000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 chr5 130600000 144500000 Loss Esophageal adenocarcinoma MLPA 18820669 chr5 130608214 131757872 LOH Normal High-resolution SNP genotyping 21211785 chr5 130627601 130758279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 130627601 130758279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 130627660 130758257 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1306286 1348162 Copy number Lung cancer - 20668451 chr5 1306286 1348162 Gain or loss Breast cancer - 20668451 chr5 1306286 1348162 Gain or loss Cancer - 20668451 chr5 1306286 1348162 Gain or loss Lung cancer - 20668451 chr5 1306286 1348162 Gain or loss Ovarian cancer - 20668451 chr5 1306286 1348162 Gain or loss Pancreas cancer - 20668451 chr5 1306286 1348162 Gain or loss Prostate cancer - 20668451 chr5 1306289 1348161 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1306289 1348162 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1306289 1348162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1306289 1348162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 130659150 130659250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 30715295 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 130743604 130743718 Deletion Breast cancer Illumina 1M duo array 20393555 chr5 130747397 131099339 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 130772342 130772442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130775086 130998828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 130775086 130998828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 130789500 131160608 Gain and loss Pancreatic cancer SNP array 17952125 chr5 130789502 131160655 Gain or loss Breast cancer - 20668451 chr5 130789502 131160655 Gain or loss Cancer - 20668451 chr5 130789502 131160655 Gain or loss Lung cancer - 20668451 chr5 130789502 131160655 Gain or loss Ovarian cancer - 20668451 chr5 130789502 131160655 Gain or loss Pancreas cancer - 20668451 chr5 130789502 131160655 Gain or loss Prostate cancer - 20668451 chr5 130832088 130832173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 130836764 131260927 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 130853054 130853256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130853257 130853411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130859571 130859660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130863839 130978139 Copy number Schizophrenia - 18511947 chr5 130871470 130871570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130889564 130993960 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 130961933 130962033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 130993960 132650972 LOH Normal High-resolution SNP genotyping 21211785 chr5 131005307 131160655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131005307 131160655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131022638 131023719 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131023152 131023459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131108161 131108238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131170735 131357870 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131255386 131556644 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 131260927 131590484 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 131309963 131976790 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 131311207 131375678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131311207 131375678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131317050 131375145 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr5 131337001 131377000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 131355000 163479000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 131363512 131423531 Amplification or deletion Cancer Array CGH 17440070 chr5 131366341 131366441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131406501 131408000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 131408001 131417000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 131412576 131412671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131413944 131414043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131414251 131414341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131417001 131459500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 131424246 131426795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131424246 131426795 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131424246 131426795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131437384 131439758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131437384 131439758 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131437384 131439758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131459501 131616500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 131511083 131513151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131527195 131527357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131537170 131810343 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 131555430 131591455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131555430 131591455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131556202 131591446 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131563048 131567079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131563048 131567079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131568885 132631297 Loss Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 chr5 131592307 131592426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131616501 131636000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 131620536 132493402 LOH Normal High-resolution SNP genotyping 21211785 chr5 131621249 131637044 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 131621250 131637046 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131621286 131637046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131621286 131637046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131628807 131628887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131636001 131838500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 131644387 131644554 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131644387 131644554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131658043 131707798 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 131658044 131707791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131658044 131707791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131658044 131707793 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131677879 131677979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131707586 131707686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 131733343 131759204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131733343 131759204 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131733343 131759204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131774227 131839635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131774227 131839635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131774572 131825958 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131783167 131815046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 131831738 131831846 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131831738 131831847 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131831738 131831848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131838501 131866500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 131846677 131854333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131846677 131854333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131846679 131854333 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131890000 133950000 Loss Breast cancer aCGH 21509527 chr5 131905035 131907113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131905035 131907113 Gain and loss Pancreatic cancer SNP array 17952125 chr5 131905035 131907113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131920529 132007480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 131920529 132007480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 131920529 132007492 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1319618 1387514 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr5 132019501 132033500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 132021764 132024700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132021764 132024700 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132021764 132024700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132037272 132046267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132037272 132046267 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132037272 132046267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132056222 132101164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132056222 132101164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132060225 132098072 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132073817 132073917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132102378 132102430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132111036 132117755 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132111036 132117755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132114416 132140966 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132115607 132140966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132115607 132140966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132123001 132141500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 132157215 134124694 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 132172529 132172604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132176932 132180387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132176932 132180387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132177178 132180377 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132177501 132179000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 13218142 13390363 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 13218142 13456575 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 132185734 132194489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132185734 132194489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132185911 132189901 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132186001 132190000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 1322006 1404538 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr5 132208755 132253510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 132212168 132212257 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132212168 132212272 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132212168 132212287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132224772 132230228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132224772 132230228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132225180 132228124 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132226001 132232719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 132230218 132232435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132230218 132232435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132230244 132231276 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132235913 132238286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132235913 132238286 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132235913 132238286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132238970 132327253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132238970 132327253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132239571 132239828 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132242349 132326910 Gain and loss Pancreatic cancer SNP array 17952125 chr5 13226664 13421282 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 13227877 13227960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132290783 132440481 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr5 132292560 132375498 Amplification or deletion Cancer Array CGH 17440070 chr5 132298392 132298481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132306072 132307763 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132306523 132308641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132308933 132309038 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132308933 132309043 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132308933 132309045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132312084 132312309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132351243 132351701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132356690 132356791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132356692 132356791 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132356693 132356791 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132360575 132390139 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 132360579 132390139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132360579 132390139 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132360579 132390139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132415001 132416500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 132415561 132468608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132415561 132468608 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132415561 132468608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 13250561 13250658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132560051 132976122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 132560051 132976122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132560051 132976154 Gain and loss Pancreatic cancer SNP array 17952125 chr5 132594110 133567969 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 132596501 132704000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 132622049 132622149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132641099 132641199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132663493 134287627 LOH Normal High-resolution SNP genotyping 21211785 chr5 132665665 132775664 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 132697894 133280232 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 132704001 133459500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 132753758 132753949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132763242 132763296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13278864 13278964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132791187 132791297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 132806977 132848932 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 132840266 132840350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132873335 132895596 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 132882598 132882670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132887824 132887914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 132914820 132958029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 13291542 13404191 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 132929516 132963606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 132945101 132954900 Deletion Glioma mate-paired sequence 20126413 chr5 132946863 132952906 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 132946864 132952889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1329770 1329822 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 13301038 13301126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1330194 2016841 Copy number Lung cancer paired-end sequencing 18438408 chr5 133022570 133022668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 133026200 133166028 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chr5 133084475 133129310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 133086284 133158089 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133089416 133089510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 133103688 133103780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 133162369 133164390 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 133162591 133164368 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 133162650 133165727 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 133173896 133173991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 133191874 133191974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13319637 13319696 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr5 133196824 133196918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 133214449 133214545 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133214449 133214545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133261032 133261086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13328913 13329073 Loss Normal 244K array 17666407 chr5 133319101 133332377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133319101 133332377 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133319101 133332377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133335505 133368723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133335505 133368723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133335506 133368723 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133360484 133393475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 13338330 13338427 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 133436545 133480434 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 133446751 133480567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 133459501 133508500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 133478301 133511818 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133478301 133511819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133478301 133511819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 13350958 13351058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 133520000 134260000 Loss Acute lymphoblastic leukemia - 21339820 chr5 133520468 133540583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133520468 133540583 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133520468 133540583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133521921 133522021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 133560046 133589849 Gain or loss Breast cancer - 20668451 chr5 133560046 133589849 Gain or loss Cancer - 20668451 chr5 133560046 133589849 Gain or loss Lung cancer - 20668451 chr5 133560046 133589849 Gain or loss Ovarian cancer - 20668451 chr5 133560046 133589849 Gain or loss Pancreas cancer - 20668451 chr5 133560046 133589849 Gain or loss Prostate cancer - 20668451 chr5 133560047 133589849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133560047 133589849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133560140 133589661 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133589001 133590500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 133662010 133730664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133662010 133730664 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133662010 133730664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133734768 133755698 Gain or loss Breast cancer - 20668451 chr5 133734768 133755698 Gain or loss Cancer - 20668451 chr5 133734768 133755698 Gain or loss Lung cancer - 20668451 chr5 133734768 133755698 Gain or loss Ovarian cancer - 20668451 chr5 133734768 133755698 Gain or loss Pancreas cancer - 20668451 chr5 133734768 133755698 Gain or loss Prostate cancer - 20668451 chr5 133734769 133755698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133734769 133755698 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133734769 133755698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133756202 133775488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133765707 133775488 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133778952 133779102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 133829001 133830500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 133830501 133887500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 133863768 133863874 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133863768 133863874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133881400 133881627 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133881400 133881627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133887501 133951000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 133889246 133946817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133889246 133946817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133889272 133946817 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133970019 133996426 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 133970019 133996426 Gain and loss Pancreatic cancer SNP array 17952125 chr5 133970019 133996426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133998428 133998534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 133998431 133998534 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134009962 134055025 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134012378 134091500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134012378 134091500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134012413 134091398 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134064761 134064867 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134064761 134064867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134064762 134064867 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134072127 134072215 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 134074481 134074576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134079072 134079171 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134079072 134079178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134079073 134079168 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134102105 134115740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134102105 134115740 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134102105 134115740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134122360 134194708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134122360 134194708 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134122360 134194708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134155978 134156078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134157963 134222963 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 134158839 134159051 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134158839 134159051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134170612 134190045 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 134170612 134226449 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 134209269 134222684 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134209577 134223326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134209577 134223326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134237326 134264851 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134237359 134265222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134237359 134265222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134268706 134333243 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134268709 134326223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134280000 134940000 Loss Breast cancer aCGH 21509527 chr5 134286501 134292500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 134287003 134292586 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 134287627 134291060 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 134287643 134287711 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134287643 134287711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134290049 134290119 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134290049 134290119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134290120 134290178 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134290120 134290178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134290179 134290247 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134290179 134290247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134290322 134290723 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 134290555 134291016 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 134291060 135130587 LOH Normal High-resolution SNP genotyping 21211785 chr5 134291916 134291980 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134291916 134291980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134331495 134375291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134331495 134375291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134331513 134375285 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134339818 134371970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134344449 134344528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134349639 134349739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134366501 134389500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 134369246 134369282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134389501 134436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 134391368 134398223 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134392171 134397812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134396869 134708269 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1 34400000 Gain Medulloblastoma SNP arrays 21979893 chr5 134426850 134426930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134436501 135184500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 134438 161922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134459774 134493329 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134474446 134474539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134523261 135051953 Loss Bladder cancer array-CGH 21909424 chr5 13452959 13453032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 13453033 13486435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134534459 134534559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134576327 134671015 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 134601739 134601823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134653292 134685694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134667814 134680469 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 134667984 134701387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134677674 134677735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134678277 134712890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134686964 134687029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13469591 13475870 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 13469592 13475853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 134697970 134763476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134697970 134763476 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134697970 134763476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134719558 134719633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134729843 134729943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1347501 1453000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 134773699 134773799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13477575 13477652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134790761 134790828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 13480689 13480740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 134807807 134815988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134807807 134815988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134807816 134815887 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134810458 134810558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134813414 134813414 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr5 134815120 134815169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134834588 134834688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134835106 134880199 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 134858622 134885947 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 134872488 135405248 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 134897871 134899538 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134897871 134899538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134898566 134899279 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134903112 134903210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134934274 134942868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 134934274 134942868 Gain and loss Pancreatic cancer SNP array 17952125 chr5 134934274 134942868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 134960648 134960746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 134970000 137000000 Loss Breast cancer aCGH 21509527 chr5 134976725 134976773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135002842 136026947 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 135025607 135025686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135106204 135161591 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 135108456 135108536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135115360 135148082 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 135115360 135148082 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 135115360 135149685 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 135115360 135149685 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 135129807 135168471 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 135130587 135146495 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 135130587 135146495 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 135130587 135148082 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 135130587 135148082 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 135130587 135149685 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 135130587 135149685 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 135130587 135149685 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 135130587 135161591 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 135130587 135172355 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 135143074 135148611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 135143513 135149685 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 135143513 135161591 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 135143513 135173423 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 135146495 140031173 LOH Normal High-resolution SNP genotyping 21211785 chr5 135149685 180857866 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 135149685 180857866 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 135174063 136878459 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 135184501 135199000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 135193500 135502898 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 135198264 135236335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 135198264 135236335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135198315 135252223 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135199001 135253000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 135234844 135234944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135247694 135247794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135255834 135259415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 135255834 135259415 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135255834 135259415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135293991 135315179 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135300162 135305266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 135300162 135305266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135310499 135318622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 135310499 135318622 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135310499 135318622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135329914 135362750 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 135359445 135359505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135364583 135399507 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr5 135372493 135374199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 135391774 135438762 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 135392539 135427405 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135392590 135427403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 135392590 135427403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135395119 135437569 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 135396766 135423983 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 135396766 135429577 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 135397908 135398008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135400000 139000000 Copy number Normal - 21701786 chr5 135400000 139000000 Deletions, haploinsufficiency Myelofibrosis CGH 19240791 chr5 135400000 139000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 135400000 139000000 Microdeletion Developmental delay BAC array CGH 19128483 chr5 135400000 147200000 Gain Glioblastoma multiforme conventional CGH 21080181 chr5 135400000 180857866 Gain Glioblastoma multiforme aCGH 21080181 chr5 135411865 135437569 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 135411865 135438762 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 135419225 135437569 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 135431026 135462385 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 135444076 135444196 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr5 135444091 135444184 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135444091 135444184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135493104 135498478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 135493104 135498478 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135493104 135498478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135496434 135546321 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 135496435 135546321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 135496435 135546321 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135496435 135546321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 13550543 13573176 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr5 135530482 135530582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135543764 135544983 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 135549741 135549781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135555655 135556111 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135577022 135720974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 135577022 135720974 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135577022 135720974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135579844 135579930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13558101 13559101 Loss Renal cell carcinoma References 21215367 chr5 135587740 135587836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135670416 135670495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135671685 135671785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135792480 135793442 Gain and loss Pancreatic cancer SNP array 17952125 chr5 135792480 135793442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 135852355 135852455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135876923 135899459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 135958549 135958649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 135987344 136929318 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 135987344 137399357 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 136059481 136059728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136093888 136103616 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 136137865 136138015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136200000 139500000 Deletion Colorectal cancer PCR 16912164 chr5 136201003 136201076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136206079 136206179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136221216 136221933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 136241910 136274011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 136255057 136255151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136332788 136332894 Gain and loss Pancreatic cancer SNP array 17952125 chr5 136332788 136332894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 136332803 136332892 Gain and loss Pancreatic cancer SNP array 17952125 chr5 136338885 136862917 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 136338886 136862936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 136338886 136862936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 136338888 136862146 Gain and loss Pancreatic cancer SNP array 17952125 chr5 136361631 136361731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136365521 1452822717 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 136368738 136368770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136422727 136422727 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 136455212 137657261 LOH Normal High-resolution SNP genotyping 21211785 chr5 136492007 136492107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136520353 136520397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136525561 136525645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136536165 136536219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136537041 136537141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136565122 136565222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136581467 136581552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13665652 14921636 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 136740954 139019325 LOH Normal High-resolution SNP genotyping 21211785 chr5 136801243 137989060 LOH Normal High-resolution SNP genotyping 21211785 chr5 136851940 136885695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 136852566 136892357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1368542 1580687 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr5 136868131 136868231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136880601 136886200 Deletion Glioma mate-paired sequence 20126413 chr5 136882575 136884290 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 136883679 136903779 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 136897042 136897109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 13691024 13691446 Gain and loss Pancreatic cancer SNP array 17952125 chr5 136912485 136912585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136912503 175547163 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 136915421 136915521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136919552 136919652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13695773 35900347 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 136969983 136970083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136971291 136971349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136972417 136972517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 136981087 137099678 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 136981088 137099448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 136981088 137099448 Gain and loss Pancreatic cancer SNP array 17952125 chr5 136981088 137099448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137007963 137008063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 137011160 137011237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137014642 137014786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 13702737 13737390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 137046144 137052788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 137048501 137053800 Deletion Glioma mate-paired sequence 20126413 chr5 137050462 137051785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1370983 1397999 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1370983 1397999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1370983 1397999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1370983 1398002 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1370999 1398002 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 1371093 12586305 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chr5 1371093 12586305 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr5 137114015 137117964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137114015 137117964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137116056 137116458 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 137116737 137117654 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137128070 137128149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 137171361 137173313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137171361 137173313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137171799 137172671 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137176547 137200879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1372167 1372584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137231459 137251438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137231459 137251438 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137231459 137251438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137253024 137304055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137253024 137304055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137253025 137306335 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137292480 137292580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 137301537 137396701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137301537 137396701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137301550 137396619 Gain and loss Pancreatic cancer SNP array 17952125 chr5 13738357 13752114 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 137432943 137433046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137432954 137433046 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137432954 137433046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137447578 137455953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137447578 137455953 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137447578 137455953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137447672 137455098 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 137447672 137455098 Gain or loss Breast cancer - 20668451 chr5 137447672 137455098 Gain or loss Cancer - 20668451 chr5 137447672 137455098 Gain or loss Lung cancer - 20668451 chr5 137447672 137455098 Gain or loss Ovarian cancer - 20668451 chr5 137447672 137455098 Gain or loss Pancreas cancer - 20668451 chr5 137447672 137455098 Gain or loss Prostate cancer - 20668451 chr5 13745039 13997589 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 13745039 13997589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 13745039 13997589 Gain and loss Pancreatic cancer SNP array 17952125 chr5 13745039 13997589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137478759 137503031 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 137478759 137503031 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 137478761 137503031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137478761 137503031 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137478761 137503031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137478791 137478891 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137480161 137480267 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137480161 137480269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137486596 137486699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137486600 137486699 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137486622 137486699 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137487937 139204124 LOH Normal High-resolution SNP genotyping 21211785 chr5 137503364 137542257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137503364 137542257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137503366 137550730 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137542586 137551303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137542586 137551303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137542757 137551306 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137551246 137576918 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137551259 137576931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137551259 137576931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137574848 137603458 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 137589755 137589809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 137615970 137638152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137615970 137638152 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137615970 137638152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137635191 137635625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 137646500 137689454 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 137648857 137701943 Gain or loss Breast cancer - 20668451 chr5 137648857 137701943 Gain or loss Cancer - 20668451 chr5 137648857 137701943 Gain or loss Lung cancer - 20668451 chr5 137648857 137701943 Gain or loss Ovarian cancer - 20668451 chr5 137648857 137701943 Gain or loss Pancreas cancer - 20668451 chr5 137648857 137701943 Gain or loss Prostate cancer - 20668451 chr5 137648858 137695415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137648858 137695415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137648858 137701943 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137652582 137652667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 137701867 137713311 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137701867 137713315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137701867 137713315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137716184 137800615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137716184 137800615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137716184 137800616 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137802501 137831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 137802636 137810552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137802636 137810552 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137802636 137810552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137803019 137833294 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 137817246 137846651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 137829080 137832903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137829080 137832903 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137829080 137832903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137835205 137844149 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 137835384 137844832 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 137835616 137844524 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 137835860 137844856 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 137836323 137843610 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 137863655 138746900 LOH Normal High-resolution SNP genotyping 21211785 chr5 137869687 137906802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137869687 137906802 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137869687 137906802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137892481 137915949 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137905331 137905405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 137910194 137910566 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137910194 137910566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137918922 137939014 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 137918923 137939014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 137918923 137939014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137918924 137939014 Gain and loss Pancreatic cancer SNP array 17952125 chr5 13792024 13792124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 137922558 137922627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137924631 137924698 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137924631 137924698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137983946 137984552 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137987067 137987169 Gain and loss Pancreatic cancer SNP array 17952125 chr5 137987067 137987169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 137994361 138821962 LOH Normal High-resolution SNP genotyping 21211785 chr5 138005385 139543177 LOH Normal High-resolution SNP genotyping 21211785 chr5 138050213 138566379 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 138069672 138071223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 138075332 138108104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 138084691 138086381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 138110855 138110955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 138117006 138298619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138117006 138298619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138117035 138298414 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138118956 138119016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 138131495 138669963 Deletion Breast cancer Illumina 1M duo array 20393555 chr5 138139300 138139623 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 138141753 138657219 Deletion Breast cancer Illumina 1M duo array 20393555 chr5 138221331 138221431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 138236598 138238145 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138236598 138238145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138255126 138255226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1382814 1389070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 138307501 138318500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 138310313 138561882 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138310326 138561964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138310326 138561964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138329207 138329422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 138375917 138376029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138375918 138376027 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138375918 138376029 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1383900 1389728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1 38400000 Gain Myofibroblastic sarcoma CGH 19369631 chr5 138469677 138502391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 138492755 138492855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 138585323 138585425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138585347 138585425 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138585347 138585425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138637690 138694029 Deletion Intellectual disability 100k SNP Array 21811512 chr5 138637691 138695259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138637691 138695259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138642368 138642567 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138642369 138642566 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138642369 138642566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 13864401 14876400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 138657038 138694946 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138659762 138659977 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138663440 138663556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138663441 138663548 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138663441 138663560 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138686553 138689024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 138696697 138696883 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138696697 138696883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138705418 138733307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138705418 138733307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138705450 138733304 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138730793 138746900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138730793 138746900 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138730793 138746900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138738001 138751500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 138751083 138753669 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138751094 138753504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138751094 138753504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138751501 138759500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 138759501 138993000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 138760153 138767676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138760153 138767676 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138760153 138767676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138762350 138762643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 138775278 138803038 Deletion Intellectual disability 100k SNP Array 21811512 chr5 138775283 138803065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138775283 138803065 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138775283 138803065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138804526 140031173 LOH Normal High-resolution SNP genotyping 21211785 chr5 138804526 141053009 LOH Normal High-resolution SNP genotyping 21211785 chr5 138811495 138811605 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138811495 138811605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138811495 138811606 Gain and loss Pancreatic cancer SNP array 17952125 chr5 13882375 15732650 LOH Normal High-resolution SNP genotyping 21211785 chr5 138835303 138842476 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138835734 138842476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138835734 138842476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138854068 138855909 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138889261 138923166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 138914669 138914770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 138914671 138914770 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138920935 138988200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 138920935 138988200 Gain and loss Pancreatic cancer SNP array 17952125 chr5 138920935 138988200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 13892494 19318134 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 138980058 139126284 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 138993001 139053500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 139000000 143100000 Copy number Papillary thyroid carcinoma QRT-PCR 22161024 chr5 139000000 143100000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr5 139000000 143100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 139000000 143100000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chr5 139000000 143100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 139000000 143100000 Microdeletion Developmental delay BAC array CGH 19128483 chr5 139000000 180857866 Deletion Medulloblastoma SNP arrays 21979893 chr5 139008130 139043649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139008130 139043649 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139008130 139043649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139008484 139042864 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 13901225 14233433 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 139053501 139105000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 139077754 139077858 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139077754 139077859 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139077754 139077859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 13908301 13908615 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 139105001 139108500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 139108501 139264500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 139126605 139126700 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 139142697 139142759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139143227 139143309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139155590 139204232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139155590 139204232 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139155590 139204232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1391571 1392571 Gain Renal cell carcinoma References 21215367 chr5 13918461 13941590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 139188267 139188367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1391961 1392961 Loss Renal cell carcinoma References 21215367 chr5 139207443 139403063 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 139207443 204573409 Gain or loss Breast cancer - 20668451 chr5 139207443 204573409 Gain or loss Cancer - 20668451 chr5 139207443 204573409 Gain or loss Lung cancer - 20668451 chr5 139207443 204573409 Gain or loss Ovarian cancer - 20668451 chr5 139207443 204573409 Gain or loss Pancreas cancer - 20668451 chr5 139207443 204573409 Gain or loss Prostate cancer - 20668451 chr5 139207444 139403063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139207444 139403063 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139207444 139403063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139242499 141231932 LOH Normal High-resolution SNP genotyping 21211785 chr5 139242575 139242689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139243823 139243888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139252648 140498043 LOH Normal High-resolution SNP genotyping 21211785 chr5 139260888 139260957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139264501 139265500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 139266647 139327160 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 139267238 139267338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139333679 139333750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139379261 139379359 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139379261 139379361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1394013 26423095 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-481K arrays 21546498 chr5 13944636 13944736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139470663 139470758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139473892 139476505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139473892 139476505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139473939 139476504 Gain and loss Pancreatic cancer SNP array 17952125 chr5 13948083 13948379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 13948083 13948383 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 139485702 139488542 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139485705 139488575 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139485705 139488575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139485857 139486548 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 139494470 139494570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139500000 144500000 Gain and amplification Multiple myeloma Array CGH 16616336 chr5 139500000 180915260 Gain Myofibroblastic sarcoma CGH 19369631 chr5 139524292 140632163 LOH Normal High-resolution SNP genotyping 21211785 chr5 139534837 139603556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139534837 139603556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139534920 139603555 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139595126 139595319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139600229 139600329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139604819 139662873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139604819 139662873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139604831 139662867 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139616583 139616647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139673631 140221125 LOH Normal High-resolution SNP genotyping 21211785 chr5 139692613 139706359 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139692615 139706359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139692615 139706359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139693464 140570275 LOH Normal High-resolution SNP genotyping 21211785 chr5 139719971 139734906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139719971 139734906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139719984 139734777 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139746182 139746282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139757089 139757213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139757093 139757213 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139761613 139909347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139761613 139909347 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139761613 139909347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139768903 139769903 Loss Chordoma References 21215367 chr5 139853468 139853568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139861888 139861988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139863589 139863689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 139887121 139887197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139887122 139887197 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139904720 139905720 Loss Chordoma References 21215367 chr5 139909838 139917862 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139909838 139917862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139909936 139924373 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139918038 139924373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139918038 139924373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139924604 139928867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139924604 139928867 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139924604 139928867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139929817 139954322 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139939436 139939561 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139939436 139939561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139939437 139939561 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139968868 139969172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139968919 139969172 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139982401 139988100 Deletion Glioma mate-paired sequence 20126413 chr5 139991501 139993439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139991501 139993439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139991505 139992960 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139991756 140022248 Gain and loss Pancreatic cancer SNP array 17952125 chr5 139992870 140022247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139992870 140022247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139999196 140005177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 139999196 140005177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 139999232 140005171 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140005143 140007424 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140005143 140007424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140024568 140032113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140024568 140032113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140024622 140032113 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140030568 140033355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140030568 140033355 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140030568 140033355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140031173 140048911 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 140033675 140051155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140033675 140051155 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140033675 140051155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140048911 141053009 LOH Normal High-resolution SNP genotyping 21211785 chr5 140051202 140059073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140051202 140064490 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140060216 140066423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140060216 140066423 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140060216 140066423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140071045 140071136 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140071045 140071136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140071045 140071142 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140078695 140078776 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140078695 140078776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140078695 140078782 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140085928 140086009 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140085928 140086009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140085928 140086015 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140091826 140091943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140091856 140091943 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140121209 140121304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 140121585 140121676 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 140127749 140128749 Gain Chordoma References 21215367 chr5 140137124 140307304 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 140137124 140678806 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 140137124 140808866 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 140146060 140148483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140146060 140148483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140154628 140372113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140154628 140372113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140160967 140163441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140160967 140163441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140163564 140163664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 140166856 140372113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140166856 140372113 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140166856 140372113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140167116 140181700 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 140181545 140183995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140181545 140183995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140187834 140372113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140187834 140372113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140194153 140196522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140194153 140196522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140194552 140195197 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 140194728 140195842 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 140195897 140202238 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr5 140197260 140219007 Loss or gain Normal 244K array 17666407 chr5 140201091 140203535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140201091 140203535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140202322 140219112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 140202344 140221125 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 140202344 140221125 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 140202344 140221125 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 140202344 140221125 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 140202490 140219230 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 140203353 140218974 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr5 140204020 140223940 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 140204099 140215466 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 140204099 140221125 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 140204099 140221125 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 140204099 140221125 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 140204099 140221125 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 140207541 140372113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140207541 140372113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140215818 140372113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140215818 140372113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140221125 151756870 LOH Normal High-resolution SNP genotyping 21211785 chr5 140222581 140223159 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140222581 140223159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140228015 140372113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140228015 140372113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140235115 140372113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140235115 140372113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140278716 140763780 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 14031488 14031588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14033280 14033359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 140389900 140389949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 140411145 140413731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140411145 140413731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140411163 140413696 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140454403 140457146 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140454421 140457146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140454421 140457146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140460417 140463590 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 140460418 140463590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140460418 140463590 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140460418 140463590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140481765 140485385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140481765 140485385 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140481765 140485385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140488199 142414258 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-477K arrays 21546498 chr5 140488471 140678806 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 140494984 140497896 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140494994 140497887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140494994 140497887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140509445 140520182 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 140510022 140513052 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 140510023 140513052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140510023 140513052 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140510023 140513052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140527498 140534839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 140532427 140536141 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140532519 140535569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140532934 140535436 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 140534356 140539608 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 140534356 140539608 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 140534809 140539116 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr5 140535970 140538710 Loss or gain Normal 244K array 17666407 chr5 140537478 140562464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 140537614 140540205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140537614 140540205 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140537614 140540205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140538347 140557390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 140541164 140545977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140541164 140545977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140541164 140546158 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140547077 140549469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140547077 140551295 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140552126 140555399 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140552136 140555397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140552136 140555397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140559482 140561953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140559482 140561953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140559532 140562804 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140567235 141522708 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 140568475 140571880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140568475 140571880 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140568475 140571880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140570734 140575326 Loss Normal aCGH 21627829 chr5 140573138 140574676 Loss Normal aCGH 21627829 chr5 140573322 140575134 Gain Normal aCGH 21627829 chr5 140573692 140577177 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 140573722 140576474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140573880 140578735 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140582688 140585679 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140583130 140586053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140583130 140586053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140594122 140597285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140594122 140597285 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140594122 140597285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140594436 142747353 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 140596151 141168925 LOH Normal High-resolution SNP genotyping 21211785 chr5 140599133 141192836 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 chr5 140605165 140607926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140605165 140607926 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140605165 140607926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140662379 140663796 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 140662381 140663778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140662381 140663778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140662711 140663616 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140678239 140680571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140678239 140680571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140678746 140679795 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140690388 140693003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140690388 140693003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140698538 140872730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140698538 140872730 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140698538 140872730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140703619 140872722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140703619 140872722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140730015 140732763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140730015 140732763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140733665 140872729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140733665 140872729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140751667 140872730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140751667 140872730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140777466 140872730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140777466 140872730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140780721 140872730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140780721 140872730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140790341 140872730 Copy number Normal - 20680643 chr5 140790342 140872730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140790342 140872730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140839067 140839376 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140839067 140839376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140874767 140978806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140874767 140978806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140875680 140978665 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140879968 141959200 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 140891066 140891166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 140958882 140990738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 140980626 140996607 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 140980627 140996596 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140980627 140996607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140980627 140996607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140996001 141001000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 140996777 141000814 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140996777 141000814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 140999054 141011170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 140999054 141011170 Gain and loss Pancreatic cancer SNP array 17952125 chr5 140999054 141011170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141001001 141235500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 141003524 141036341 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 141013152 141041954 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141013154 141041984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141013154 141041984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141029977 141030077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 141041469 168168622 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 141082103 141103513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 141091091 141119850 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 141196818 141196913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 141212867 141238128 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141212867 141238151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141212867 141238151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141235501 141243500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 141243501 141329500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 141255917 141256426 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141255917 141256426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141283593 141299900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141283593 141299900 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141283593 141299900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141288563 141288790 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 141304715 141318811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141304715 141318811 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141304715 141318811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141326621 141348934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141326621 141348934 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141326621 141348934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141338057 141367849 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 141342656 141342751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 141360422 141372776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141360422 141372776 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141360422 141372776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14140481 15290740 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 141437591 141437691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14143828 14509458 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr5 141439385 141439689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 141468394 141513222 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141468508 141513222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141468508 141513222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14148478 14148578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 141499977 141835659 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-490K arrays 21546498 chr5 141584001 141616340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 141670175 141684804 Gain or loss Breast cancer - 20668451 chr5 141670175 141684804 Gain or loss Cancer - 20668451 chr5 141670175 141684804 Gain or loss Lung cancer - 20668451 chr5 141670175 141684804 Gain or loss Ovarian cancer - 20668451 chr5 141670175 141684804 Gain or loss Pancreas cancer - 20668451 chr5 141670175 141684804 Gain or loss Prostate cancer - 20668451 chr5 141670189 141684750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141670189 141684750 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141670189 141684750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14167212 14167312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 141684001 141686500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 141738836 141740752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 141738837 141740752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 141758441 141758640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 141800260 141833896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 141818001 141819500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 141849416 141882836 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 141856833 157661635 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 141894004 141894094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141896890 141897711 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 141914285 145952287 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr5 141917374 141917530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 141926449 141926825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141951926 142057819 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 141951927 142057801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 141951927 142057801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141953305 142057801 Gain or loss Breast cancer - 20668451 chr5 141953305 142057801 Gain or loss Cancer - 20668451 chr5 141953305 142057801 Gain or loss Lung cancer - 20668451 chr5 141953305 142057801 Gain or loss Ovarian cancer - 20668451 chr5 141953305 142057801 Gain or loss Pancreas cancer - 20668451 chr5 141953305 142057801 Gain or loss Prostate cancer - 20668451 chr5 141953307 142045812 Gain and loss Pancreatic cancer SNP array 17952125 chr5 14196829 14563310 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 14196829 14563310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 14196829 14563310 Gain and loss Pancreatic cancer SNP array 17952125 chr5 14196829 14563310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141985918 141986054 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141985918 141986054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 141985918 141986057 Gain and loss Pancreatic cancer SNP array 17952125 chr5 141991178 141991266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14200030 16428467 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr5 142130156 142588769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 142130156 142588769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 142130475 142588765 Gain or loss Breast cancer - 20668451 chr5 142130475 142588765 Gain or loss Cancer - 20668451 chr5 142130475 142588765 Gain or loss Lung cancer - 20668451 chr5 142130475 142588765 Gain or loss Ovarian cancer - 20668451 chr5 142130475 142588765 Gain or loss Pancreas cancer - 20668451 chr5 142130475 142588765 Gain or loss Prostate cancer - 20668451 chr5 142130476 142586243 Gain and loss Pancreatic cancer SNP array 17952125 chr5 142162966 142163055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142171869 142171949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142178792 142634560 Amplification or deletion Cancer Array CGH 17440070 chr5 142200813 142200879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142206507 142206539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142257384 142257433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142263026 142263126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142278349 142304596 Indels Normal Affymetrix and Illumina arrays 20811451 chr5 14231532 14232532 Loss Renal cell carcinoma References 21215367 chr5 142322008 142322108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142354812 142355012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142354900 142355014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142355006 142355206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142363755 142363811 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 142364353 142962374 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 142399 980973 Amplification Breast cancer FISH 17142309 chr5 1 42400000 Amplification Esophageal squamous carcinoma CGH 21637470 chr5 1 42400000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 1 42400000 Gain Glioblastoma multiforme aCGH 21080181 chr5 1 42400000 Gain Non-small cell lung cancer In situ minichips 20864512 chr5 14240151 42342138 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 142422256 142422356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142532431 142564848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 142587101 142587201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142616649 142708224 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 142618460 142679788 Loss Normal 244K array 17666407 chr5 142623717 142623807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142633382 142678089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 142637688 142795270 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chr5 142637689 142795270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 142637689 142795270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 142639122 142764302 Gain and loss Pancreatic cancer SNP array 17952125 chr5 142642187 142642287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142644710 142644774 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 142644841 142644905 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 142692635 142692997 Gain and loss Pancreatic cancer SNP array 17952125 chr5 142741896 142742896 Loss Renal cell carcinoma References 21215367 chr5 142758949 142766492 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 142760000 142847000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr5 142784880 150135905 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 14278543 14296167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 142819987 142820087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142875097 142875197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142902273 142902346 Gain and loss Pancreatic cancer SNP array 17952125 chr5 142910000 148190000 Loss Acute lymphoblastic leukemia - 21339820 chr5 142914689 142914759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 142915560 142915871 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 142915560 142915871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 143010647 143010797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143015617 143015702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143018609 143880421 LOH Normal High-resolution SNP genotyping 21211785 chr5 143052747 143052830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143057061 143087457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 143060450 143060651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 143077331 143686326 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 143100000 147200000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr5 143100000 147200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 143100000 147200000 Loss Non-small cell lung cancer In situ minichips 20864512 chr5 143100000 155600000 Gain Glioblastoma multiforme aCGH 21080181 chr5 143120448 143120548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143171919 143180475 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 143171919 143180475 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143171919 143180475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 143199 254392 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr5 143213934 154299354 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-478K arrays 21546498 chr5 1 43229340 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 143240451 143240531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143269803 143269862 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr5 143276716 143424570 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 143333828 143334002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 143349986 143350086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143350870 143350960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 143376735 144795789 LOH Normal High-resolution SNP genotyping 21211785 chr5 143377782 143378782 Loss Renal cell carcinoma References 21215367 chr5 143377847 143378847 Loss Renal cell carcinoma References 21215367 chr5 143386876 143390529 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 143411998 143412098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143458295 143463541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 143480937 143481037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143493061 143495230 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 143500637 143500874 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143500637 143500874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 143517924 143530409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 143517924 143530409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 143519032 143530409 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143534968 143535068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143552523 143558412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 14355728 14449485 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr5 143566450 143833870 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143566471 143833870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 143615044 143615123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143640921 143641021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143647047 143647110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 143647984 145165278 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 14365802 14369381 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 143735032 143735094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143816139 143847556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 143820849 143820937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143846073 143846133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 143873193 143877271 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr5 143881888 143882744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 143881897 143882744 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143892603 143892703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143895105 143895426 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143895117 143895426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 143895129 143895426 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143899992 143900059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1439030 1439110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 143911648 143913186 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143953201 143953625 Gain and loss Pancreatic cancer SNP array 17952125 chr5 143977236 143977384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 4400000 Amplification Biliary cancer Array CGH 19435499 chr5 1 4400000 Amplification prenatal diagnosis Multiplex ligation probe amplification 20453657 chr5 1 4400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 1 4400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 1 4400000 Gain Breast cancer Array CGH 16608533 chr5 1 4400000 Gain Cervical cancer Array CGH and SNP array 16585170 chr5 1 4400000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 1 4400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 1 4400000 Gain Intracranial ependymoma matrix-based CGH 16609018 chr5 1 4400000 Gain Lung cancer Array CGH 17925434 chr5 1 4400000 Gain Non-small cell lung cancer dChip 21829676 chr5 1 4400000 Gain Ovarian cancer Affymetrix 20844748 chr5 1 4400000 Loss Normal Human genome CGH 68k ARRAY PLATFORM 22144094 chr5 1 4400000 Translocation Breast cancer transcriptome sequencing 19181860 chr5 1 4400000 Translocation Developmental delay FISH 19490664 chr5 14401812 14401892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144033529 145360290 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 144129363 144129423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144150240 144150340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144152652 144152752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144153983 144340436 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 144196593 144196693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14423525 14424982 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 144249147 144294495 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 144257045 144257110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144331810 144331910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144390980 144391080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144395619 144395712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144453452 144453833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1 44459924 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 144482979 144483011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144500000 149800000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 chr5 144500000 159900000 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr5 144500000 168500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 144500000 180915260 Deletion Embryonal rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 chr5 144555040 144555140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144557531 144557615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14456694 14457212 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 144588569 144589371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 144588569 144589537 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1445909 1498545 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1445914 1498545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1445914 1498545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1445914 1498545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1446027 1446108 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 144657791 144657885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1446642 1447123 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1446642 1447123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14468590 14486019 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 144769374 144769474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144794181 144794266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14479783 14483324 Gain and loss Pancreatic cancer SNP array 17952125 chr5 144805840 144805940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144812354 144812454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144818835 144843365 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 144852098 144852998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 144852124 144852943 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 144880899 144915157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 144902452 144902552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144913400 144913500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144919127 144919223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144961590 144961670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 144975066 144975381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1 4500000 Amplification Human papillomavirus FISH 17975027 chr5 1 4500000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 chr5 1 4500000 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr5 1 4500000 Gain Emphysema MACArray Karyo 1.4K BAC chip 19352772 chr5 1 4500000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr5 1 4500000 Gain Gastric cancer Array CGH 16891809 chr5 1 4500000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr5 145009868 145009968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145011973 145012063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145068934 145069034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145074294 145074374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145087740 145087803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145118775 145195092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145118775 145195092 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145118775 145195092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145219489 145232724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145219489 145232724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14522602 14567446 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 145296335 145423047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145296335 145423047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145296335 145441527 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145298868 145298958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1453001 1477500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 145338963 146535112 LOH Normal High-resolution SNP genotyping 21211785 chr5 145367638 145367738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145369777 145369927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145406350 147487223 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 145443613 145443666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145444068 145464139 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 145444069 145464139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145444069 145464139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145444188 145464067 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145472783 145549064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145472783 145549064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145473221 145542416 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145531783 145531847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145563356 145646165 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145563385 145645786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145698780 145700276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145698780 145700276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145698869 145700200 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145703116 145717663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1 45708383 Gain Medulloblastoma array-CGH 16783165 chr5 145770577 145804757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 145772628 145773602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 145780948 146539209 LOH Normal High-resolution SNP genotyping 21211785 chr5 145795266 145795266 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1 45800000 Amplification Thyroid cancer FISH 19087340 chr5 1 45800000 Gain Liposarcoma FISH, CGH 21253554 chr5 1 45800000 Gain Thyroid cancer FISH 19087340 chr5 145803308 146138073 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 145807065 145871262 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 145807066 145871259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145807066 145871259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145807087 145871263 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145874610 145875869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145874610 145875869 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145874610 145875869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14591295 14591395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 145915737 145915860 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145915737 145915860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145918919 145952536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 14593782 14594797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 145945843 145945956 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145945867 145945956 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145949260 146415783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 145949260 146415783 Gain and loss Pancreatic cancer SNP array 17952125 chr5 145949260 146415783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 145949260 146441226 Copy number Normal Illumina Human610-Quad BeadChip 21660214 chr5 145949260 146441226 Gain or loss Breast cancer - 20668451 chr5 145949260 146441226 Gain or loss Cancer - 20668451 chr5 145949260 146441226 Gain or loss Lung cancer - 20668451 chr5 145949260 146441226 Gain or loss Ovarian cancer - 20668451 chr5 145949260 146441226 Gain or loss Pancreas cancer - 20668451 chr5 145949260 146441226 Gain or loss Prostate cancer - 20668451 chr5 14598656 14614165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 146010314 146010314 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr5 146016157 146016441 Gain and loss Pancreatic cancer SNP array 17952125 chr5 146016157 146016441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 146016159 146016451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 146046322 146046411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 146066488 146067339 Gain and loss Pancreatic cancer SNP array 17952125 chr5 146072368 146072687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 146072368 146072691 Gain and loss Pancreatic cancer SNP array 17952125 chr5 146072377 146072607 Gain and loss Pancreatic cancer SNP array 17952125 chr5 146091768 146091833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 46100000 Gain Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 chr5 146107607 146107707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 146200382 146200482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 146229451 146229551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 146237501 146239000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 146248274 146249274 Gain Renal cell carcinoma References 21215367 chr5 146248384 146417472 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 146252706 146391319 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 14628174 14856299 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 14634932 14664205 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 14634932 14664205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 14634932 14664205 Gain and loss Pancreatic cancer SNP array 17952125 chr5 14634932 14664205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 146354882 146391319 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 146360377 146360451 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 146366325 146392739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 146369485 146369628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 146369654 146369814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 146374905 146377499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 146415174 147215528 LOH Normal High-resolution SNP genotyping 21211785 chr5 1 46440100 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 1 46440100 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 146448531 146448631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14646093 14646393 Loss Osteosarcoma References 21215367 chr5 146533766 146533866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 146580403 147487223 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 146594719 146735672 Gain and loss Pancreatic cancer SNP array 17952125 chr5 146594719 146743739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 146594719 146743739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 146599954 146603341 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 146601101 146605300 Deletion Glioma mate-paired sequence 20126413 chr5 146602844 146603277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 146616548 146617909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 146671730 146744736 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 14668231 14668673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 146750566 146813453 Gain and loss Pancreatic cancer SNP array 17952125 chr5 146750566 146869614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 146750566 146869614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 146762098 146762409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 146792865 146837617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 14684491 14703567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 146896 392087 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 146896 648955 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 146907259 146907359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 146948183 147142445 Gain and loss Pancreatic cancer SNP array 17952125 chr5 146950899 147142445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 146950899 147142445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 146984918 147313575 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-491K arrays 21546498 chr5 14700055 14710318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 147011220 147011303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147012034 147042651 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147020270 147042651 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147020270 147047098 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147020270 147068991 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147025472 147025572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14705047 14706435 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147057528 147091825 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 147081861 147081921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147135584 147169998 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147145334 147172314 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 14715569 14716569 Gain Osteosarcoma References 21215367 chr5 147161292 147172314 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147168003 147168103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1471742 1483374 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 14717783 14752842 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 14717783 14752842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 14717783 14752842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14717857 14746507 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147184338 147191453 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 147184338 147191453 Deletion Pancreatitis Expand Long Template PCR System 16823394 chr5 147184339 147191453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147184339 147191453 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147184339 147191453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147200000 152100000 Deletion Hyperekplexia PCR 16941485 chr5 147200000 152100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 147200000 152100000 Low copy numbers Crohn's disease - 20877625 chr5 147200000 159900000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 chr5 147200000 167400000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr5 147200949 147460749 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147238467 147241946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147238467 147241946 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147238467 147241946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147242108 147391054 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147245047 147432404 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147245786 147380603 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147245786 147392553 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147247923 147380603 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147252465 147266258 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147252465 147266294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147252465 147266294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147263424 147263524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147263501 147263602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147269803 147269903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147269859 147380603 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147269859 147430756 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147269859 147461578 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147294697 147315373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 147295316 147295416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14731276 14731349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147315179 147337502 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 147340151 147415300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147340714 147377609 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147343868 147380603 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147350451 147380603 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147357772 147357872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147371778 147461578 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 147379360 147379460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147380558 147380658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147423728 147497045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147423728 147497045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147423801 147497035 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147442349 147442664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 14744412 14779011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 147529489 147535154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147529489 147535154 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147529489 147535154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147531401 147536500 Deletion Glioma mate-paired sequence 20126413 chr5 147533214 147535142 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 147533287 147535392 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 147537483 147537483 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 147552708 147552893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147562597 147574892 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147562597 147574892 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147562597 147574892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14757908 14924887 Copy number Gastric cancer Human cDNA microarrays 17229543 chr5 14762019 14924876 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 14762019 14924876 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 14762019 14924876 Gain and loss Pancreatic cancer SNP array 17952125 chr5 14762019 14924876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147627246 147665224 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 147628616 147645966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147628616 147645966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147645701 147645975 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr5 14765803 14768306 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147672183 147675670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147672183 147675670 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147672183 147675670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147673358 147706111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 147676760 147676855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147677640 147677740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14767789 14769601 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 14767789 14769601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147695315 147699605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147695315 147699605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1 47700000 Amplification Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chr5 1 47700000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr5 1 47700000 Gain Esophageal squamous carcinoma CGH 21637470 chr5 1 47700000 Gain Ewing's sarcoma CGH(Reference) 21437220 chr5 1 47700000 Gain Glioblastoma multiforme aCGH 21080181 chr5 1 47700000 Gain Glioblastoma multiforme CGH 19960244 chr5 1 47700000 Gain Glioblastoma multiforme conventional CGH 21080181 chr5 1 47700000 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr5 1 47700000 Loss Astrocytoma CGH 17387387 chr5 1 47700000 Loss Breast cancer aCGH 21264507 chr5 147743739 147802592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147743739 147802592 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147743739 147802592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1477501 1537000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 147809634 147946439 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 147810788 148013934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 147810788 148013934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 147810872 148013909 Gain and loss Pancreatic cancer SNP array 17952125 chr5 147855944 148468253 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 147909892 148422930 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 chr5 147928334 147928434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 147995878 147995978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148000 9748000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr5 148001298 148001398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14800247 14803481 Indels Normal Affymetrix and Illumina arrays 20811451 chr5 148033087 148033127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148034645 148795952 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 148064036 148064133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148091942 148092942 Loss Renal cell carcinoma References 21215367 chr5 148116188 148116288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148136001 149408500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 148148396 148148491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148163111 148163370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 148175631 148175689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148185601 148186356 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148186348 148188381 Gain or loss Breast cancer - 20668451 chr5 148186348 148188381 Gain or loss Cancer - 20668451 chr5 148186348 148188381 Gain or loss Lung cancer - 20668451 chr5 148186348 148188381 Gain or loss Ovarian cancer - 20668451 chr5 148186348 148188381 Gain or loss Pancreas cancer - 20668451 chr5 148186348 148188381 Gain or loss Prostate cancer - 20668451 chr5 148186349 148188381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148186349 148188381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148186369 148188379 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148243 46136124 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr5 148243 74103243 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr5 148245000 148245085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148254650 148254750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14826557 14859166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 148273749 148521252 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-485K arrays 21546498 chr5 148273749 148521252 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-507K arrays 21546498 chr5 148315313 148997390 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 148353174 148353405 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 14835731 14836031 Gain Renal cell carcinoma References 21215367 chr5 148361104 148422803 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 148361104 148422803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148361104 148422803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148364377 148422880 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148366035 148366133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 148371287 148371387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148381627 148381784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1 48400000 Amplification Esophageal squamous carcinoma CGH 18350619 chr5 1 48400000 Gain Cervical cancer SNP array and FISH 18559093 chr5 1 48400000 Gain Ewing's sarcoma Array CGH 17952124 chr5 1 48400000 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr5 1 48400000 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr5 148405220 148405726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 148417310 148417412 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148417310 148417416 Gain and loss Pancreatic cancer SNP array 17952125 chr5 14842167 14842267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148422069 148422165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148458976 148459074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148475924 148476236 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148475934 148476236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148476003 148476235 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148481381 148481479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148501247 148620192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148501247 148620192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148501326 148620192 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 148501326 148620192 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148551349 148551436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 148552538 148552639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 14855324 14855624 Loss Osteosarcoma References 21215367 chr5 148557811 148557872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 14856322 14867883 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 148581438 148581538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148582807 148582907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148590101 148590201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148631651 148701558 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 148631651 148701558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148631651 148701558 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148631651 148701558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14867890 14914259 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 148686817 148687056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 148705169 148714339 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 148705170 148714339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 148705170 148714339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148705170 148714339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148705252 148714338 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148717802 148729408 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 148717802 148729408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148717802 148729408 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148717802 148729408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148718636 148718674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148734025 148739031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148734025 148739031 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148734025 148739031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148734198 148734282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14876401 16546200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 148782666 148788430 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148788674 148788779 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr5 148788674 148788779 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148788674 148788779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148790402 148790489 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148790402 148790489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148799400 148799469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148854071 148910850 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148855037 148911200 Copy number Lung cancer - 20668451 chr5 148855037 148911200 Gain or loss Breast cancer - 20668451 chr5 148855037 148911200 Gain or loss Cancer - 20668451 chr5 148855037 148911200 Gain or loss Lung cancer - 20668451 chr5 148855037 148911200 Gain or loss Ovarian cancer - 20668451 chr5 148855037 148911200 Gain or loss Pancreas cancer - 20668451 chr5 148855037 148911200 Gain or loss Prostate cancer - 20668451 chr5 148855038 148911200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148855038 148911200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 14885620 14885705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148856359 148856459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148890826 148923609 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 148905139 148905500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148930225 148930325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 148941327 148994720 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 148941328 148994720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 148941328 148994720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148964032 148964173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148966393 148966497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148966394 148966497 Gain and loss Pancreatic cancer SNP array 17952125 chr5 148966394 148966497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 148976294 148994720 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149003764 149003864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149005182 149012185 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 149018096 149579085 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-492K arrays 21546498 chr5 149053246 149099049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 149055504 149055715 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149055504 149055715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149055505 149055715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149081826 149082126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149081826 149082128 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149081826 149082128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149090008 149207460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149090008 149207460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149090057 149207460 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149092581 149092646 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr5 149092581 149092646 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149092581 149092646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149105548 149107327 Gain Normal 244K array 17666407 chr5 149114147 149146148 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 14915559 15021147 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 14921636 16532572 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 149220421 149304549 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149220421 149304549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149241608 149242611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 149246472 149271468 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 1492487 14757909 Copy number Autism exome sequencing 22495311 chr5 149255143 149271468 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 1492821 16643214 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 chr5 149292657 149293657 Loss Cancer Human 24 color M-FISH 21215367 chr5 149292657 149293657 Loss Renal cell carcinoma References 21215367 chr5 149293070 149294070 Gain Renal cell carcinoma References 21215367 chr5 149294286 149294373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149299786 149299887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149299788 149299887 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149299789 149299887 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149302045 149302228 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149302045 149302228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149320493 149347149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149320493 149347149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149320639 149347149 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149352878 149360410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149352878 149360410 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149352878 149360410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149360242 149361242 Gain Renal cell carcinoma References 21215367 chr5 149360491 149412883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149360491 149412883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149360496 149412883 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149360688 149361688 Gain Renal cell carcinoma References 21215367 chr5 149364862 149366142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 149389107 149389208 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149389107 149389208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149396931 149397017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149408501 149654000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 149413050 149473128 Gain or loss Breast cancer - 20668451 chr5 149413050 149473128 Gain or loss Cancer - 20668451 chr5 149413050 149473128 Gain or loss Lung cancer - 20668451 chr5 149413050 149473128 Gain or loss Ovarian cancer - 20668451 chr5 149413050 149473128 Gain or loss Pancreas cancer - 20668451 chr5 149413050 149473128 Gain or loss Prostate cancer - 20668451 chr5 149413051 149473128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149413051 149473128 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149413051 149473128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149421932 149422356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 149433927 149434016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149438452 149438536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149444095 149454873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149444095 149454873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149444121 149444223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 149454058 149454804 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149458161 149458260 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149458162 149458260 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149458162 149458262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149473594 149515615 Gain or loss Breast cancer - 20668451 chr5 149473594 149515615 Gain or loss Cancer - 20668451 chr5 149473594 149515615 Gain or loss Lung cancer - 20668451 chr5 149473594 149515615 Gain or loss Ovarian cancer - 20668451 chr5 149473594 149515615 Gain or loss Pancreas cancer - 20668451 chr5 149473594 149515615 Gain or loss Prostate cancer - 20668451 chr5 149473598 149515615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149473598 149515615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149473602 149515614 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149477137 149521728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 149502335 149502435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149521918 149563931 Amplification or deletion Cancer Array CGH 17440070 chr5 149526552 149544256 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149526556 149544187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149526556 149544187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149541314 149541378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149549713 149570827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149549713 149570827 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149549713 149570827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149562665 149684402 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 149564419 149564504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149567940 149568019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149579247 149649596 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 149579247 149650047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149579247 149650047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149579248 149649529 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149620859 149620927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 14963667 14963749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149639591 150715089 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 149654001 149658500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 149656101 149662135 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149656101 149662718 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 149656102 149662641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149656102 149662641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149658137 149658237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149658501 149933500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 149666788 149666844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 149698644 149698739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149717394 149760063 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 149717427 149760064 Microdeletions Treacher Collins syndrome sequenced 21951868 chr5 149717428 149760048 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149717428 149760063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149717428 149760063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149726385 149726710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 149753452 149772525 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149761394 149772516 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 149761399 149772525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149761399 149772525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149800000 152700000 Copy number Crohn's disease Nimble-Gen 385k array 20106866 chr5 149800000 152700000 Gain Basal cell lymphoma Array CGH 19029149 chr5 149800000 152700000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr5 149800000 152700000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 chr5 149800000 159900000 Deletion Hepatocellular carcinoma Array CGH 16750200 chr5 149800000 159900000 Gain Basal cell lymphoma Array CGH 16317097 chr5 149800000 159900000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr5 149802946 149809512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149802946 149809512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149803997 149809512 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149804786 150265935 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 149808527 149809024 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149808527 149809024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149829043 150480001 LOH Normal High-resolution SNP genotyping 21211785 chr5 149834442 149834542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 14985121 14985210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149867866 149917966 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 149877447 149877538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 149880623 149917966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149880623 149917966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149880787 149899526 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149903356 149903441 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149903356 149903441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149933501 150034500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 149934422 150470477 LOH Normal High-resolution SNP genotyping 21211785 chr5 149936694 149958855 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 149940126 149979175 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 149957690 149957848 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149957690 149957848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149957992 149977754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 149960835 150018962 Gain and loss Pancreatic cancer SNP array 17952125 chr5 149960835 150018985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 149960835 150018985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 149972575 150006117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 149976782 150743731 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 149976782 151324247 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 15000000 18400000 Amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 chr5 15000000 18400000 Gain Acute lymphoblastic leukemia Array CGH 17640729 chr5 15000000 18400000 Gain Myoepithelioma Array CGH 18604193 chr5 15000000 28900000 Gain Lung cancer array CGH 16740712 chr5 150017626 150126218 Loss Normal 244K array 17666407 chr5 150020637 150039118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150020637 150039118 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150020637 150039118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150020935 150021024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150031542 150031964 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150050549 150060817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150050549 150060817 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150050549 150060817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150068503 150118769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150068503 150118774 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150080197 150239374 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 150080197 150265935 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 150081709 150126622 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 150090458 150090458 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr5 15011146 15011236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150137617 150297043 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 150137701 150156489 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150138514 150156489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150138514 150156489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150140907 150140939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150145350 150173439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 150154177 150213158 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 150156258 150162257 Deletion Normal TaqMan assays 20972442 chr5 150157836 180857866 Copy number Biliary cancer Agilent CGH platform 20360734 chr5 150157836 180857866 Copy number Breast cancer Agilent CGH platform 20360734 chr5 150157836 180857866 Copy number Coronary artery disease Agilent CGH platform 20360734 chr5 150157836 180857866 Copy number Crohn's disease Agilent CGH platform 20360734 chr5 150157836 180857866 Copy number Hypertension Agilent CGH platform 20360734 chr5 150157836 180857866 Copy number Rheumatoid arthritis Agilent CGH platform 20360734 chr5 150157836 180857866 Copy number Type 1 diabetes Agilent CGH platform 20360734 chr5 150157836 180857866 Copy number Type 2 diabetes Agilent CGH platform 20360734 chr5 150157855 150161792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 150169388 150208915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 150176306 150203178 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 150176306 150203178 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 150176749 150210035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 150177857 150210768 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1501783 1501883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150181489 150213522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 150182258 150204257 Deletion Normal TaqMan assays 20972442 chr5 150182386 150198785 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 150182387 150203579 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 150183354 150203449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 150183562 180857866 Copy number Biliary cancer Agilent CGH platform 20360734 chr5 150183562 180857866 Copy number Breast cancer Agilent CGH platform 20360734 chr5 150183562 180857866 Copy number Coronary artery disease Agilent CGH platform 20360734 chr5 150183562 180857866 Copy number Crohn's disease Agilent CGH platform 20360734 chr5 150183562 180857866 Copy number Hypertension Agilent CGH platform 20360734 chr5 150183562 180857866 Copy number Rheumatoid arthritis Agilent CGH platform 20360734 chr5 150183562 180857866 Copy number Type 1 diabetes Agilent CGH platform 20360734 chr5 150183562 180857866 Copy number Type 2 diabetes Agilent CGH platform 20360734 chr5 150185219 150201174 Loss or gain Normal 244K array 17666407 chr5 150185681 150204276 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 150185693 150198797 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 150190196 150190322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 150191404 150202900 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr5 150207878 150208422 Deletion and duplication Crohn's disease References 21956041 chr5 150207878 150208422 Deletion Crohn's disease References 19812545 chr5 15022044 15193902 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 150224038 150224268 Loss Normal 244K array 17666407 chr5 150254157 150264735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150254157 150264735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150255179 150264735 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150272828 171316611 Loss Prostate cancer Array CGH 18632612 chr5 150272828 180611420 Gain Prostate cancer Array CGH 18632612 chr5 150290297 150302511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150290297 150302511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150300400 151093500 Gain Prostate cancer Array CGH 18632612 chr5 150312614 150568806 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 150331183 157460757 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 15037624 16540506 LOH Normal High-resolution SNP genotyping 21211785 chr5 150380001 150864500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 150380112 150388741 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150380191 150388747 Deletion Intellectual disability 100k SNP Array 21811512 chr5 150380409 150387884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150389699 150441190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150389699 150441190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150389701 150446890 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150399775 150399840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150460461 150517565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150460461 150517565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150460863 150517585 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150511062 150511143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150540805 150583847 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 150540807 150583847 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150540807 150583847 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150540807 150583847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150612837 150629000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150612837 150629000 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150612837 150629000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150636516 150663520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150636516 150663520 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150636516 150663520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150637597 151494520 LOH Normal High-resolution SNP genotyping 21211785 chr5 150637597 151494913 LOH Normal High-resolution SNP genotyping 21211785 chr5 150637597 151501037 LOH Normal High-resolution SNP genotyping 21211785 chr5 150654041 155624614 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 150658141 150659019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 150674736 150707312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150674736 150707312 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150674736 150707312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150699080 150699135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150730233 150730312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15073138 15073138 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 150769217 150773613 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 150769217 150773613 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 150807356 150852132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150807356 150852132 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150807356 150852132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150837212 150837331 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150837213 150837331 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150837213 150837331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150856872 150856927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150860656 150863376 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 150863847 150928698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 150863847 150928698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 150864501 150866000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 150865319 150928685 Gain and loss Pancreatic cancer SNP array 17952125 chr5 150866001 151132500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 150875068 150875205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150889435 151906047 LOH Normal High-resolution SNP genotyping 21211785 chr5 150889435 152884611 LOH Normal High-resolution SNP genotyping 21211785 chr5 150892726 150893726 Gain Renal cell carcinoma References 21215367 chr5 150893224 150893524 Gain Renal cell carcinoma References 21215367 chr5 15092327 15821708 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 150942286 150942379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150948425 150959747 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 150983840 150983940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 150984248 150984348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15100000 18500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 15100000 18500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 15100000 18500000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 15100000 18500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 15100000 23300000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 15100000 29300000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 151010846 151010941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151021204 151046710 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151021212 151046710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 151021212 151046710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151038594 151071658 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151048038 151048125 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151048038 151048125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151056516 151056616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151057081 151057137 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151057081 151057137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15105766 15105866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151064007 151064332 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151064043 151064332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151064092 151064332 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151102577 151118405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 151102577 151118405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151102577 151118533 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151112536 151112614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151122641 151122741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151125653 151125993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151125656 151125993 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151131664 151165106 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151131664 151172539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 151131664 151172539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151132755 151142251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151146525 151176325 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 151182361 151284596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 151182361 151284596 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151182361 151284596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151235336 151235445 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151235336 151235445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151235358 151235446 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151237414 151237504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151297381 151297481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151299138 151299238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151305906 151305998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151319679 156463350 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 151351299 151351399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151389412 151513092 Copy number Parkinson disease PennCNV and QuantiSNP 21829596 chr5 151412727 151412827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151418523 151452206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151423017 151445423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151429572 152326886 LOH Normal High-resolution SNP genotyping 21211785 chr5 151433353 151445127 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151433444 151444575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151433468 151445979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151433749 151448629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151436607 151442640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1514544 1577076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1514544 1577076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1514544 1577076 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1514544 1577076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151456426 151456556 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 151470464 151510612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151488394 151501403 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 151491209 151494886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 151494520 151501037 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 151494520 151501037 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 151494881 151499031 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 151494913 151501037 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 151494913 151501037 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 151494998 151499057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 151495567 151498532 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 151495579 151498544 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 151495579 151498544 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 151501037 152787587 LOH Normal High-resolution SNP genotyping 21211785 chr5 151532039 151577233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 151541471 153415931 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 15156342 15156442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151616926 151876702 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 15163894 15164029 Gain and loss Pancreatic cancer SNP array 17952125 chr5 15163894 15164030 Gain and loss Pancreatic cancer SNP array 17952125 chr5 15163895 15164029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151692487 151692587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151714302 152010907 Loss Normal - 20841430 chr5 151730313 152340636 LOH Normal High-resolution SNP genotyping 21211785 chr5 151741104 151741416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 151751005 151751105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151751294 151765033 Gain or loss Breast cancer - 20668451 chr5 151751294 151765033 Gain or loss Cancer - 20668451 chr5 151751294 151765033 Gain or loss Lung cancer - 20668451 chr5 151751294 151765033 Gain or loss Ovarian cancer - 20668451 chr5 151751294 151765033 Gain or loss Pancreas cancer - 20668451 chr5 151751294 151765033 Gain or loss Prostate cancer - 20668451 chr5 151751303 151765017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 151751303 151765017 Gain and loss Pancreatic cancer SNP array 17952125 chr5 151751303 151765017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 151756870 151803346 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 151792908 151793008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151803346 158652992 LOH Normal High-resolution SNP genotyping 21211785 chr5 151939619 151939943 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 15194008 15296335 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 151964354 151964435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 151990884 152035972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 152090351 152090424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152100000 155600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 152100000 155600000 Deletion Deafness FISH 19353646 chr5 152100000 155600000 Deletion Developmental delay FISH 19353646 chr5 152100000 155600000 Deletion dysmorphism FISH 19353646 chr5 152100000 155600000 Deletion feeding difficulties FISH 19353646 chr5 152100000 155600000 Deletion strabismus FISH 19353646 chr5 152100000 155600000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 chr5 15211865 15211965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152224582 154584019 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 152241065 152241165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152287103 152287193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152314235 152848085 LOH Normal High-resolution SNP genotyping 21211785 chr5 152343815 152343914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152344365 152344465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152351647 152351747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152359588 152359862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15240271 15255804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 152413674 152766066 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 15248747 15248847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152499092 152499126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152529513 152529736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152529733 152529918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152580903 152581003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152609441 152609541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152624665 152659404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 152641217 153908596 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-503K arrays 21546498 chr5 152641628 152669369 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 152668371 152672600 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 152672600 152673136 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 152700000 159900000 Loss Esophageal squamous carcinoma Array CGH 17470683 chr5 152803533 153731782 LOH Normal High-resolution SNP genotyping 21211785 chr5 15280973 15284026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 152818172 152818272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152850499 153171354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 152850499 153171354 Gain and loss Pancreatic cancer SNP array 17952125 chr5 152850499 153171354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 152872014 152872046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152876511 152876611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152908720 152908810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 152956417 152956517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15296553 15386338 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 152966622 152966713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 152990668 153531321 LOH Normal High-resolution SNP genotyping 21211785 chr5 153008790 153008885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153019798 153019898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153062206 153273106 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 153072335 153072397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 153078780 153078880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153090806 153106089 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr5 153115135 153115431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153115135 153115433 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153115135 153115433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153196704 153196804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153200000 160300000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr5 153298914 153327187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 153351464 153398690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 153351464 153398690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153351519 153398656 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153398752 153414783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 153398752 153414783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153398752 153414785 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153476268 153476318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153540472 155410444 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 153550464 153550496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153550488 153780003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 153550488 153780003 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153550488 153780003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153559044 154360524 LOH Normal High-resolution SNP genotyping 21211785 chr5 153563613 153579139 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 153590742 153590810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153657428 153657528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153675909 153707808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 15368265 16812769 LOH Normal High-resolution SNP genotyping 21211785 chr5 1536858 1536957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 153697530 153697630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153699785 153699879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1537001 1539500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 153706859 153707000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153706894 153706956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 153709181 153709476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153709181 153709478 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153709182 153709478 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153715408 153715473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 153741124 153765986 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 153744957 153745057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153749523 153752769 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153751595 153751982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153785569 153787397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 153793052 153793131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153805766 153816059 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153805776 153816059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 153805776 153816059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153832501 153843000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 153834726 153838017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 153834726 153838017 Gain and loss Pancreatic cancer SNP array 17952125 chr5 153834726 153838017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 153843001 153970000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 153864194 153864284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153936542 153936656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1539501 1558500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 153955135 153955235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 153970001 153971500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 153987309 153987403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154018856 154018900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154024594 154024694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154045529 154045614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154048156 154549663 LOH Normal High-resolution SNP genotyping 21211785 chr5 154065052 154065118 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154065052 154065118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154072655 154174652 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154072655 154177354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 154072655 154177354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154078137 154078442 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154078137 154078442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154078138 154078442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154104377 154104691 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 15412032 15412132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154140274 154140361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154178245 154210406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 154178245 154210406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154178247 154210406 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154218299 154236546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 154218299 154236546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154218303 154236544 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154247169 154297941 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154247169 154297964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 154247169 154297964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154251778 154254089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 154263887 154263961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154275112 154275287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154275168 154275285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154296111 154296195 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 154296111 154296195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 154300839 154326721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 154300839 154326721 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154300839 154326721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154373613 154377317 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154384467 154384553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15441165 15441265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154428976 155442860 LOH Normal High-resolution SNP genotyping 21211785 chr5 1544338 1544338 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 154476395 154477395 Gain Renal cell carcinoma References 21215367 chr5 154506363 154507363 Loss Renal cell carcinoma References 21215367 chr5 154507851 154508151 Gain Renal cell carcinoma References 21215367 chr5 154548016 154548092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 154643921 154652437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 154761539 154776923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 154768316 154768553 Gain and loss Pancreatic cancer SNP array 17952125 chr5 154768316 154768553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 154798911 154799011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15482515 15482547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1548763 1576178 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 154878346 154878435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 154894486 154898073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 154912864 155410444 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 154958701 155003628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 15500573 15500636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15503842 15504828 Gain and loss Pancreatic cancer SNP array 17952125 chr5 155078493 156038723 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 155087856 155088856 Loss Renal cell carcinoma References 21215367 chr5 155110639 155110739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155157519 155172823 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 155205025 155205115 Gain and loss Pancreatic cancer SNP array 17952125 chr5 155205025 155205142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 155205029 155205134 Gain and loss Pancreatic cancer SNP array 17952125 chr5 155231047 155232047 Loss Renal cell carcinoma References 21215367 chr5 155239167 155240167 Loss Renal cell carcinoma References 21215367 chr5 155244353 155245161 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 155244362 155245152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 155244382 155245234 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 155290389 155290624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155290622 155290855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155313275 155548476 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 155393362 155433064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 155395125 155439631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 155396119 155437708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 155402786 155448776 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 155407368 155427112 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 155407368 155427112 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 155407368 155456746 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 155407368 155456746 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 155409350 155415307 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 155411082 155427618 Gain Normal 244K array 17666407 chr5 155414747 155421495 Copy number Cancer CGH 20581869 chr5 155421508 155427559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 155442482 155551016 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 155444035 155444123 Gain and loss Pancreatic cancer SNP array 17952125 chr5 155444035 155444123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15549695 15549790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155507587 155523342 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 155509770 155523985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 155509796 155522862 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 155559765 156577214 LOH Normal High-resolution SNP genotyping 21211785 chr5 155561312 155561344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155570563 155570633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155600000 159900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 155600000 159900000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr5 155600000 159900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 155600000 159900000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr5 155600000 159900000 Microdeletion Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr5 15560633 15560728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155644043 155644588 Gain and loss Pancreatic cancer SNP array 17952125 chr5 155648505 158375930 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 155664920 155665276 Gain and loss Pancreatic cancer SNP array 17952125 chr5 155686334 156125623 Gain and loss Pancreatic cancer SNP array 17952125 chr5 155686345 156125623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 155686345 156125623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15568789 16932933 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 155700000 159900000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 chr5 155700000 159900000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr5 155700000 159900000 Deletion Acute lymphoblastic leukemia human 500K SNP arrays 18768390 chr5 155700000 159900000 Loss Gastric cancer Array CGH 16891809 chr5 15572469 15572649 Deletion Breast cancer Illumina 1M duo array 20393555 chr5 155740032 155740094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155741004 155741097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155743401 157663495 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 155760632 155760727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15577167 15608151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 15578562 15578642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155786875 155787394 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1558501 1569500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 155867368 156901314 LOH Normal High-resolution SNP genotyping 21211785 chr5 155922120 155922220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155948693 155949278 Loss or gain Normal 244K array 17666407 chr5 155954246 155954346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 155954389 155956152 Gain Normal 244K array 17666407 chr5 155967864 155968241 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156017451 156020024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156018176 156020024 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156024511 156025363 Gain and loss Pancreatic cancer SNP array 17952125 chr5 15605302 15605377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156109507 156109597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156134395 156134495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156143808 156143908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156148827 156148927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156173719 156173822 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156173719 156173823 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156173719 156173823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156183173 156450666 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 156195278 156195341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156210127 156212117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156210127 156212117 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156210127 156212117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156224749 156224838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156261742 156261842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156271768 156271815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156278944 156322844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156278944 156322844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156278949 156322844 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156340530 156340599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156375235 156503397 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 156377408 156422827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 156389109 156417699 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156389109 156418065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156390000 156510000 Loss Acute lymphoblastic leukemia - 21339820 chr5 156403184 156403284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156445421 156468716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156445421 156468716 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156445421 156468716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156463031 156464031 Loss Renal cell carcinoma References 21215367 chr5 15646514 15875351 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 156487131 156488162 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156494937 156502453 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156498031 156502499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156498031 156502499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15651325 15689520 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 156521929 156525856 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156521929 156525856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156526018 164133824 Duplication Intellectual disability Array CGH 22102821 chr5 156540432 156614687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156540432 156614687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156540484 156614687 Copy number Lung cancer - 20668451 chr5 156540484 156614687 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 156540484 156614687 Gain or loss Breast cancer - 20668451 chr5 156540484 156614687 Gain or loss Cancer - 20668451 chr5 156540484 156614687 Gain or loss Lung cancer - 20668451 chr5 156540484 156614687 Gain or loss Ovarian cancer - 20668451 chr5 156540484 156614687 Gain or loss Pancreas cancer - 20668451 chr5 156540484 156614687 Gain or loss Prostate cancer - 20668451 chr5 156540485 156614687 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156559471 156559638 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156559471 156559638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156588816 156663072 Amplification or deletion Cancer Array CGH 17440070 chr5 156594773 156594887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15662215 15694646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 156625669 156752793 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156625669 156755184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156625669 156755184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15669091 15990295 Gain and loss Pancreatic cancer SNP array 17952125 chr5 15669091 15990295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15669091 15992900 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 156701185 156705307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156701185 156705307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156701619 156705257 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156730356 156730456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156736388 156744170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 15673745 15673845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156744503 156744603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156752795 156755173 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156781856 156781950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156786518 156786613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156814490 156850002 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 156819605 156834307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156819605 156834307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156819802 156834302 Gain and loss Pancreatic cancer SNP array 17952125 chr5 15682099 15682199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156836890 156935346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156836890 156935346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 156840033 156935318 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156879539 156879639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156930186 157165622 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 156939085 156939184 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156939085 156939184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1569501 1616000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 156968297 156968361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 156985265 157012006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 156985265 157012006 Gain and loss Pancreatic cancer SNP array 17952125 chr5 156985265 157012006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157002012 157002095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157005481 157005580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157006525 157051157 Loss Autism Exome sequencing and CGH 22495309 chr5 157030857 157039752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157031177 157039558 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157090901 157099349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 157090901 157099349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157091024 157100488 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157103333 157116324 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157103337 157116751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 157103337 157116751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157110048 157140036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 157120916 157145028 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 15712821 15712921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157145875 157218746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 157145875 157218746 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157145875 157218746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157168684 157168790 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157168684 157168790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157190007 157190107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157212423 157212498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157223794 157225515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 157250000 158800000 Loss Acute lymphoblastic leukemia - 21339820 chr5 157290804 157291128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157290837 157291128 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157323204 157333916 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 15732650 15818361 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 157329261 157329396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157336352 157336542 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157336352 157336542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157336355 157336542 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157346111 157347242 Gain and loss Pancreatic cancer SNP array 17952125 chr5 157346111 157347242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 157456144 174032432 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 157460605 157460705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157485991 158451346 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 157486302 157486402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157519223 157519311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157577399 157577513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15767022 15772218 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 15767587 15767640 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 157716776 157716868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15772218 15772222 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 15772222 15773597 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 15772464 15773945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 157749099 157750099 Loss Renal cell carcinoma References 21215367 chr5 157795325 157821853 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 157799279 157831625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 157802913 157803063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15781066 15814192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 157858140 158232438 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 157884419 157884484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 157963463 158758859 LOH Normal High-resolution SNP genotyping 21211785 chr5 157963463 158766041 LOH Normal High-resolution SNP genotyping 21211785 chr5 157989672 157989746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158051408 158085329 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 158055500 158459366 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chr5 158055500 158459366 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 chr5 158055500 158459366 Deletion Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr5 158058007 158459064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 158058007 158459064 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158058007 158459064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1581477 1581548 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158179823 158211230 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 15818361 17404742 LOH Normal High-resolution SNP genotyping 21211785 chr5 158186650 158186794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158212216 158445390 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr5 158229125 158231456 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158229570 158229797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 158246084 158246149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158273929 158274029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158298841 167623786 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 158303512 158303544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158307274 158307374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158369772 158369851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158373438 158457083 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr5 158437554 158437639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158438885 158438972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158438993 159407443 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 158438993 159766107 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 158455001 158457500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 158476547 180629495 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 158479325 158479425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158512344 158600287 Indels Normal Affymetrix and Illumina arrays 20811451 chr5 158516997 158567412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 158516997 158567412 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158516997 158567412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 158522482 158522570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158524976 158525320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 158552399 158552499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158589783 158589908 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158589785 158589907 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158606249 159263023 LOH Normal High-resolution SNP genotyping 21211785 chr5 158613868 158622409 Gain Normal 244K array 17666407 chr5 158622666 158645626 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 158622876 158645617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 158622876 158645617 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158622876 158645617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 158652992 158658995 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 158674368 158690059 Amplification Systemic lupus erythematosus BioRad Chromo4 real-time PCR system 21278068 chr5 158674369 158690059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 158674369 158690059 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158674369 158690059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 158677626 158677694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 158677627 158677754 Gain and loss Pancreatic cancer SNP array 17952125 chr5 158677627 158677754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 158710597 158710897 Gain Renal cell carcinoma References 21215367 chr5 158716952 158717153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158717074 158717174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158717156 158717268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158717165 158717358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158758818 159272860 LOH Normal High-resolution SNP genotyping 21211785 chr5 158779411 158811881 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 158817546 158817623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158914638 158914738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158943755 158943855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 158954886 158955559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 159122227 159122327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159143654 159143753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159195717 159195817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159241778 159242778 Loss Renal cell carcinoma References 21215367 chr5 159247460 159481231 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-505K arrays 21546498 chr5 159263297 159263329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159276317 159332595 Gain or loss Breast cancer - 20668451 chr5 159276317 159332595 Gain or loss Cancer - 20668451 chr5 159276317 159332595 Gain or loss Lung cancer - 20668451 chr5 159276317 159332595 Gain or loss Ovarian cancer - 20668451 chr5 159276317 159332595 Gain or loss Pancreas cancer - 20668451 chr5 159276317 159332595 Gain or loss Prostate cancer - 20668451 chr5 159276318 159332129 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159276318 159332595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 159276318 159332595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159280999 159281093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159282379 159283692 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 159283794 168074009 LOH Normal High-resolution SNP genotyping 21211785 chr5 159287124 159287224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159292260 159292335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159294355 159294455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159295179 159295279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15929687 16361247 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 159329459 159329529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159351049 159351203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159368030 159368129 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159368030 159368130 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159368030 159368131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159368758 159425128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 159368758 159425128 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159368758 159425128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159421180 159479008 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159422333 159422433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159424152 159479030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159481843 159482370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 159505177 159505277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 159546952 159598320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 159546952 159598320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159573319 159598307 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159596847 159620555 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 159611238 159640329 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159611238 159699106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159628533 159663842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 159631434 159631509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15963738 15964754 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159651419 159651647 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159651419 159651647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159675135 159675240 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 15969346 16014432 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 159707355 159730207 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159707365 159730226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 159707365 159730226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159730620 159773517 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 159753291 159755075 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159753291 159755075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159761227 159778746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 159761227 159778746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159762735 159778672 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159781440 159788323 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159781440 159788324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 159781440 159788324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159819 1776063 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 159819 1871630 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 159819 38270360 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 159844937 159845035 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr5 159844937 159845035 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159844937 159845035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159848985 159849049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 15988291 15988369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 159900000 167400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 159900000 167400000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr5 159900000 167400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 159900000 167400000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr5 159900000 167400000 Translocation severe myoclonic epilepsy of infancy FISH 18294202 chr5 159900000 168500000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chr5 159900000 168500000 Gain or loss Esophageal squamous carcinoma Array CGH 17470683 chr5 159900000 172800000 Deletion Mental retardation array CGH 17124404 chr5 159900000 180857866 Copy number epilepsy - 18472482 chr5 159900000 180857866 Gain Acute lymphoblastic leukemia array CGH 17690704 chr5 159900000 180915260 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 159900000 180915260 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr5 159909042 160041627 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 159922707 160211797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 159922707 160211797 Gain and loss Pancreatic cancer SNP array 17952125 chr5 159922707 160211797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1 6000000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 160064998 160065065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160105114 161868599 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 160109206 160130740 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 160109519 160109619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1601299 1601370 Gain and loss Pancreatic cancer SNP array 17952125 chr5 160220105 160220205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160223588 160223688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160331053 160331115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160346695 160346792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 160363884 160364214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 160383140 160383230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1604131 1604191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 160448465 160448539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160471835 160473766 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 160473766 160482276 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 160477321 160626797 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 160477321 160626797 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 160481288 160481388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160506053 160786796 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 160519601 160524800 Deletion Glioma mate-paired sequence 20126413 chr5 160521426 160522931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 160545244 161037282 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 160589635 160589732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 160605226 160605326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160617088 160617274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160617293 160617393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 160623695 160668375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 160648014 160907708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 160648014 160907708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1606528 1606590 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 160653449 160907708 Gain and loss Pancreatic cancer SNP array 17952125 chr5 160654723 160806043 Amplification Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr5 160815777 160815877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16086356 16086457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16086375 16086464 Gain and loss Pancreatic cancer SNP array 17952125 chr5 16086375 16086464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 160934169 163503982 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 160951790 161332954 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 160994913 160995002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161029234 161029334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161045236 161062176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 161045574 161062177 Gain and loss Pancreatic cancer SNP array 17952125 chr5 16106614 16106714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161103329 161103429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161106405 161151256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 161110059 161111419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 161111032 161111352 Gain and loss Pancreatic cancer SNP array 17952125 chr5 161159894 161160015 Gain and loss Pancreatic cancer SNP array 17952125 chr5 161159894 161160030 Gain and loss Pancreatic cancer SNP array 17952125 chr5 161163012 161163112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16120474 16232654 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 16120474 16232654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 16120474 16232654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16120580 16230930 Gain and loss Pancreatic cancer SNP array 17952125 chr5 161206983 161258990 Gain and loss Pancreatic cancer SNP array 17952125 chr5 161206983 161258992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 161206983 161258992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 161208100 161208200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161208423 161208523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161356665 161356765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161382956 161383030 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 161427295 161515122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 161427295 161515122 Gain and loss Pancreatic cancer SNP array 17952125 chr5 161427295 161515122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 161430004 161430104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161484978 161485114 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 161485143 161485243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 161505531 161506254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1616001 1620000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 161770953 161771053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16177809 16178484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 16177833 16178678 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 16177992 16178491 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 161837473 161837577 Gain and loss Pancreatic cancer SNP array 17952125 chr5 161837475 161837577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 161837501 161837577 Gain and loss Pancreatic cancer SNP array 17952125 chr5 161877760 161895468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 161877946 161910042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 161886869 161918459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 161902 161991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162011694 162011912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162019385 162383607 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 16203013 16203779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 16203070 16204070 Loss Renal cell carcinoma References 21215367 chr5 162063818 162063918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162077677 162105109 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 162103649 162103749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162108179 162108229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162143028 162143260 Gain and loss Pancreatic cancer SNP array 17952125 chr5 162143028 162143260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 162143579 162143665 Gain and loss Pancreatic cancer SNP array 17952125 chr5 162143579 162143665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1621463 2111183 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 162195081 162195429 Gain and loss Pancreatic cancer SNP array 17952125 chr5 162226582 162226682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162231724 162231947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162231943 162232096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162231950 162232050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162262646 162295170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 162265599 162265648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 162357166 162484330 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 162367950 162368264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 162430371 162430471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1625243 1646257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1625243 1646257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1625332 1629767 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1625332 1629767 Gain and loss Pancreatic cancer SNP array 17952125 chr5 162688597 162688697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162741560 163001713 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 162751238 162751799 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr5 162754581 162755715 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 162794302 162795927 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 162794302 162795927 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 162794352 162795854 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 162797155 162804598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 162797155 162804598 Gain and loss Pancreatic cancer SNP array 17952125 chr5 162797155 162804598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 162799025 162819721 Gain and loss Pancreatic cancer SNP array 17952125 chr5 162813169 162819721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 162813169 162819721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 162820241 162851523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 162820241 162851523 Gain and loss Pancreatic cancer SNP array 17952125 chr5 162820241 162851523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 162848706 162848806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 162862808 162878911 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 162862809 162878884 Gain and loss Pancreatic cancer SNP array 17952125 chr5 162862809 162878904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 162862809 162878904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 162933759 162933875 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 163038000 165078111 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 163049902 163050002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163068789 163069024 Gain and loss Pancreatic cancer SNP array 17952125 chr5 16312340 16312440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1631432 1631498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 163153787 163155953 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 163155651 163155749 Gain and loss Pancreatic cancer SNP array 17952125 chr5 163155651 163155749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16324819 16324919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163439832 163439915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163489616 163489703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163597587 163599025 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 163607946 163608046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163625614 163625699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16362680 16362712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163663585 166421606 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 163681088 163681188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163723869 163723939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1638501 1640000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 163895475 163895507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163911005 163911078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 16391541 16391770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16391870 16391970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 163960586 163961036 Gain and loss Pancreatic cancer SNP array 17952125 chr5 163985777 164020703 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1640001 1670500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 164011108 164011208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164074171 164075939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 164169746 164169828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164247710 164374155 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 164273821 164424234 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 164294746 164294852 Gain and loss Pancreatic cancer SNP array 17952125 chr5 164294746 164294852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 164298876 164299185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 164310896 164346141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 164336499 164384824 Duplication Cancer CGH 22183965 chr5 164336499 164384824 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr5 164370828 164522125 Deletion Glioblastoma multiforme Array CGH 19115005 chr5 164414179 164448118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 16446955 16492055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 164495142 164495318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164517887 164517987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164526353 164526441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164531274 164532274 Gain Renal cell carcinoma References 21215367 chr5 164535526 164535826 Gain Renal cell carcinoma References 21215367 chr5 164548357 164548685 Gain and loss Pancreatic cancer SNP array 17952125 chr5 164574841 164574880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164585115 164848079 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 16464192 16464292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164652612 164652712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164782438 164807393 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 164822612 164822672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164934621 164934721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 164969024 164969261 Gain and loss Pancreatic cancer SNP array 17952125 chr5 164969024 164969261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 164969559 164969671 Gain and loss Pancreatic cancer SNP array 17952125 chr5 164969559 164969671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 164969696 164969772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 165000896 165001046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165006010 165006110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165026670 165342653 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 16504629 16518898 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 16504629 16518898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 16504629 16518898 Gain and loss Pancreatic cancer SNP array 17952125 chr5 16504629 16518898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16506510 19141230 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 chr5 1650671 1687120 Amplification Intellectual disability 100k SNP Array 21811512 chr5 1650671 1687120 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 165069140 165069240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165142383 165142674 Gain and loss Pancreatic cancer SNP array 17952125 chr5 165142383 165142674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 165144873 165198317 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr5 165147571 165180165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 165155278 165334527 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 165155278 165334527 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 16526148 16670118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 16526148 16670118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 16526148 16670118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16526166 16669843 Gain and loss Pancreatic cancer SNP array 17952125 chr5 165301919 165302019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165317821 165317909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165319891 165324592 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 16532572 18061596 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 165330220 165330320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165365189 166421606 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 165377885 165841862 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 165458936 165459036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16546201 16976300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 165465228 165465353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165602245 165602323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 165684787 165724784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 165703458 165711472 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 165712 10111780 Loss Developmental delay affymetrix genechip 500K/SNP 6.24 array 21147756 chr5 165712195 165712285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165712394 165712494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165712 5444231 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 chr5 165766736 180626608 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 165767871 165798835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 165771421 165792560 Deletion Normal Standard GISTIC 21527027 chr5 165771462 165782543 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 165771733 165771833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165827210 165827310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165833315 165833415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165848813 165848913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165851190 165869969 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 165857459 165857559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165857649 165857749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165869405 165869500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165934929 165935029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16598124 16598222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 165991053 166043677 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 166083327 166083646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 166169701 166203886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 166258099 166258195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 166310384 167247921 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 16631422 16932933 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 166335295 166335915 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 166335341 166336208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 166335345 166336212 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 166373972 166374061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 166389950 166434701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 166596493 166596545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 166644421 167623739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 166644421 167623739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 166669417 166702071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 166745110 166745210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16676104 16676213 Gain and loss Pancreatic cancer SNP array 17952125 chr5 16676113 16676204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16676114 16676213 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1667719 1669309 Gain and loss Pancreatic cancer SNP array 17952125 chr5 166817836 166817988 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 166866211 166866311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 166897367 166897462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16690307 16690407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 166943624 167951832 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 167025683 167025767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167034489 167079598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1670501 1673500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 167081201 169029300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 167084894 167118242 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 167140635 167140735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16715019 16936722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 16715019 16936722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16718413 16936722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 16718413 16989372 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167230128 167230248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 167244036 167244136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167246377 167247377 Loss Renal cell carcinoma References 21215367 chr5 167251737 167252737 Loss Renal cell carcinoma References 21215367 chr5 167283727 167284727 Loss Renal cell carcinoma References 21215367 chr5 167283889 167284889 Gain Renal cell carcinoma References 21215367 chr5 167333601 167333910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 16734166 16760357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1673501 1705000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 167371456 167371556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167392673 167392787 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167392673 167392787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 167400000 172200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 167400000 172200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 167400000 172200000 Gain Breast cancer Affymetrix 16865294 chr5 167400000 180857866 Copy number Sotos syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr5 167400000 180857866 Deletion Sotos syndrome PCR and direct sequencing 17561922 chr5 167400000 180857866 Deletion Sotos syndrome Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 chr5 167400000 180857866 Deletion T-cell acute lymphoblastic leukemia FISH 20065082 chr5 167400000 180857866 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 chr5 167400000 180857866 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss FISH and chromosome banding 20606397 chr5 167400000 180857866 Microdeletion Sotos syndrome aCGH 22470819 chr5 167477952 167623739 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167482727 167482827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16751721 16752031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 167520904 167521004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167526843 167688564 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 167545500 167545555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 167599279 167644435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 167609409 167609509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167613675 167613750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167620000 167890000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 chr5 167640242 167640315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167651642 167831884 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 167651670 167829334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 167651670 167829334 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167651670 167829334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 167653034 167677105 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 167654004 167654086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167656720 167656820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167657565 167698654 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 16770133 16770204 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167728257 167728357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167744628 167744728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167749222 167749290 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167749222 167749290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 167778347 167778434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167787449 167787549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167791218 167825708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 167846040 167878887 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 167846041 167878885 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 167846041 167878885 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167846041 167878885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 167854438 167854538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167889088 167890086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 167889088 167890086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 167889373 167890065 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167895021 167895121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 167915208 167939166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 167915208 167939166 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167915208 167939166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 167920475 167920560 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167920475 167920560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 167920479 167920556 Gain and loss Pancreatic cancer SNP array 17952125 chr5 167920487 167920548 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr5 167975935 167976579 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1680140 1681833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 16801482 16909510 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 168021324 168660291 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168025857 168660291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 168025857 168660291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 168063779 168063924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 168093120 168097977 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 168097247 168747559 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 168097322 168097977 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 168102579 175316037 LOH Normal High-resolution SNP genotyping 21211785 chr5 168127729 168127838 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168127729 168127838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 168151081 168151191 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168151081 168151192 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168151081 168151193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 168160077 168160125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1681814 1687105 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1681814 1687105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 168186312 168186400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168195330 168239781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 168198417 168198517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168244889 168244989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168263029 168747559 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 168298340 168298440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168301796 168301884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16830883 16830983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168327009 168327321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 168396925 168903710 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 168423758 169070607 Duplication Depressive disorder Perlegen 600K platform 21152026 chr5 168441992 168442092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168444058 168444158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168479634 168479734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168500000 172800000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 chr5 168500000 172800000 Loss Esophageal squamous carcinoma Array CGH 17470683 chr5 168500000 180915260 Deletion Acute myeloid leukemia Array CGH(References) 18000384 chr5 168500000 180915260 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 168500000 180915260 Gain Basal cell lymphoma Array CGH 16317097 chr5 168500000 180915260 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr5 168500000 180915260 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr5 168500000 180915260 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chr5 168500000 180915260 Gain Sudden cardiac death CGH 19188705 chr5 168501989 168502089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168507940 168508038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168541815 168541909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168558392 168558492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1685850 1687098 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168619627 168619717 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168619627 168619717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 168623183 168623276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16866889 16866989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168675102 168675335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 168826960 168827060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16884300 16912165 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 168858265 168858365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168865931 168866031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168886626 168886726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168903083 169802892 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 168911763 168911935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168911832 168911932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 168912031 168912137 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168912031 168912137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 168943215 168964359 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 168943216 168964357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 168943216 168964357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 168943355 168973856 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168946615 168954855 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 1689680 5146407 LOH Normal High-resolution SNP genotyping 21211785 chr5 168991001 169036279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 168996828 169442962 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 168996871 169442959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 168996871 169442959 Gain and loss Pancreatic cancer SNP array 17952125 chr5 168996871 169442959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169029301 170193100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 169035466 169035587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169035656 169035845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169036515 169036615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169065475 169065575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16907103 16907196 Gain and loss Pancreatic cancer SNP array 17952125 chr5 16907103 16907196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169086328 169445438 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 16909533 17019800 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 169168328 169168409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169223296 169340322 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 169223855 169340322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16922713 16923740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 169253703 169253773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169320407 169320487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169390642 172551106 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-483K arrays 21546498 chr5 169400269 169400527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 169407090 169407166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16941772 16967195 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 169424860 169424998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169430000 169640000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 chr5 169465495 169469287 Gain and loss Pancreatic cancer SNP array 17952125 chr5 169465495 169469307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 169465495 169469307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169471267 169471367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169498651 169498751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169500723 169501529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169500855 169501581 Gain and loss Pancreatic cancer SNP array 17952125 chr5 169509640 169509719 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 169592524 169612148 Gain and loss Pancreatic cancer SNP array 17952125 chr5 169607667 169657400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 169607667 169657400 Gain and loss Pancreatic cancer SNP array 17952125 chr5 169607667 169657400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169632246 169644621 Gain and loss Pancreatic cancer SNP array 17952125 chr5 169632246 169644621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169649376 169684821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 169662994 169663094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169668283 169672298 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 169668283 169672298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169691012 169694682 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 169700778 169700878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169713459 170096212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 169713459 170096212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169737745 169749216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 169737745 169749216 Gain and loss Pancreatic cancer SNP array 17952125 chr5 169737745 169749216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 169759996 169760083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 16976301 17988300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 169785620 169785720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169793617 169793717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169799905 169834544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 169818210 169828267 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 169835389 169835489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169838343 169838423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 169864155 170095388 Gain and loss Pancreatic cancer SNP array 17952125 chr5 16994952 16995060 Gain and loss Pancreatic cancer SNP array 17952125 chr5 16994952 16995060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 16994954 16995060 Gain and loss Pancreatic cancer SNP array 17952125 chr5 169989261 169989361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17000000 130400000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr5 17000000 180857866 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr5 17000000 29000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 chr5 17000000 58900000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr5 17000000 58900000 Loss Cancer array-based techniques 21183584 chr5 17000000 58900000 Loss Ovarian cancer Affymetrix 20844748 chr5 17000000 76400000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 chr5 170025950 170060427 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 170030775 170031775 Gain Renal cell carcinoma References 21215367 chr5 170046844 170046944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170062357 170064073 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 170062869 170063295 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr5 170063785 170064095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 170091396 170091484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 170104775 170104875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170120000 170210000 Gain Ductal carcinoma SNP array 22052326 chr5 170142275 170173629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 170142275 170173629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170143290 170173626 Gain and loss Pancreatic cancer SNP array 17952125 chr5 170143300 170173626 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 170186363 170186448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170194977 170195047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17019823 17178799 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 170221599 170659624 Gain or loss Breast cancer - 20668451 chr5 170221599 170659624 Gain or loss Cancer - 20668451 chr5 170221599 170659624 Gain or loss Lung cancer - 20668451 chr5 170221599 170659624 Gain or loss Ovarian cancer - 20668451 chr5 170221599 170659624 Gain or loss Pancreas cancer - 20668451 chr5 170221599 170659624 Gain or loss Prostate cancer - 20668451 chr5 170221616 170659623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 170221616 170659623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170226417 170226724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170226417 170226726 Gain and loss Pancreatic cancer SNP array 17952125 chr5 170226417 170226726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170250469 170510493 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-488K arrays 21546498 chr5 170250469 170510493 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-499K arrays 21546498 chr5 170250469 180857866 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-487K arrays 21546498 chr5 170267526 170315700 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 170275662 170275958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 170289401 170289471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170293813 170293872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170304928 170305028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170354613 170354687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170431559 171282918 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 170431559 171567504 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 170492264 170903688 Copy number Lung cancer paired-end sequencing 18438408 chr5 1705001 1708500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 170510031 170510131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170547211 170577542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 170551192 170707103 Amplification or deletion Cancer Array CGH 17440070 chr5 170561273 170561305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170593070 170593170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1706039 4300347 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 170606177 170651365 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 170661001 170668000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 170668001 170676500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 170668892 170671743 Gain or loss Breast cancer - 20668451 chr5 170668892 170671743 Gain or loss Cancer - 20668451 chr5 170668892 170671743 Gain or loss Lung cancer - 20668451 chr5 170668892 170671743 Gain or loss Ovarian cancer - 20668451 chr5 170668892 170671743 Gain or loss Pancreas cancer - 20668451 chr5 170668892 170671743 Gain or loss Prostate cancer - 20668451 chr5 170668893 170671742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 170668893 170671742 Gain and loss Pancreatic cancer SNP array 17952125 chr5 170668893 170671742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170690000 172750000 Gain Ductal carcinoma SNP array 22052326 chr5 170704653 170705239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170704653 170705266 Gain and loss Pancreatic cancer SNP array 17952125 chr5 170717209 170720059 Amplification or deletion Cancer Array CGH 17440070 chr5 170725727 170725861 Gain and loss Pancreatic cancer SNP array 17952125 chr5 170725727 170725861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170739297 170739359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170746725 170770492 Gain and loss Pancreatic cancer SNP array 17952125 chr5 170747402 170770493 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 170747402 170770493 Copy number Acute lymphoblastic leukemia RQ-PCR 20981679 chr5 170747403 170770492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 170747403 170770492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170756570 170756629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170775001 171255700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 170777227 170777527 Gain Renal cell carcinoma References 21215367 chr5 170778001 170812000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 170778628 170779628 Gain Renal cell carcinoma References 21215367 chr5 170779271 170816769 Gain or loss Breast cancer - 20668451 chr5 170779271 170816769 Gain or loss Cancer - 20668451 chr5 170779271 170816769 Gain or loss Lung cancer - 20668451 chr5 170779271 170816769 Gain or loss Ovarian cancer - 20668451 chr5 170779271 170816769 Gain or loss Pancreas cancer - 20668451 chr5 170779271 170816769 Gain or loss Prostate cancer - 20668451 chr5 170779272 170816762 Gain and loss Pancreatic cancer SNP array 17952125 chr5 170779272 170816767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 170779272 170816767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 170790103 170790422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 170799285 170814651 Amplification or deletion Cancer Array CGH 17440070 chr5 170812001 171220000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 1708501 1899500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 170876297 170876384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170883819 170883919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170910663 170910731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 170919578 179835408 Copy number Lung cancer paired-end sequencing 18438408 chr5 170940107 170940187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171000000 180857866 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr5 171038298 171038330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171067183 171067275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171101705 171101764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17110309 17110406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171145481 171150598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 171145532 171150598 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171176733 171177033 Loss Renal cell carcinoma References 21215367 chr5 171178291 171179291 Gain Renal cell carcinoma References 21215367 chr5 171181753 171227263 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 171206011 171417209 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 171221161 171366482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 171221161 171366482 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171221161 171366482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 171255701 171432800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 171276113 171276213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171319806 171319906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171365001 171463500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 171401678 171547951 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 171401678 171547951 Gain or loss Breast cancer - 20668451 chr5 171401678 171547951 Gain or loss Cancer - 20668451 chr5 171401678 171547951 Gain or loss Lung cancer - 20668451 chr5 171401678 171547951 Gain or loss Ovarian cancer - 20668451 chr5 171401678 171547951 Gain or loss Pancreas cancer - 20668451 chr5 171401678 171547951 Gain or loss Prostate cancer - 20668451 chr5 171401679 171547951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 171401679 171547951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 171403230 171547865 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171432801 171534000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 171447212 171447536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 171457611 172864129 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 171463501 171466500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 171466501 171902000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 171473028 171667877 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 171473028 171667877 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 1714901 1718900 Deletion Glioma mate-paired sequence 20126413 chr5 171553782 171562924 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171553782 171563060 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 171553782 171563060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 171569255 171643400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 171569255 171643400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 171571007 171643248 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171597142 171597211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171611943 171612087 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171611943 171612087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 171638811 171638924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 171656129 171657985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 171656129 171657985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1716721 1717290 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1716816 1717347 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 171684799 171814132 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171685801 172318300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 171693108 171814132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 171693108 171814132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17170685 17170795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17170687 17170795 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171799272 171799363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 171868320 171868389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171885991 171886128 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 171893536 171893747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171893733 171893978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171901209 171902209 Loss Renal cell carcinoma References 21215367 chr5 171902001 172320000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 171913937 172117968 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 171920098 171920198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171957457 171957557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1719627 1719709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 171968850 171969041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 171968850 171969041 Gain and loss Pancreatic cancer SNP array 17952125 chr5 171968850 171969041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172000880 172051136 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 172000881 172046533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172012272 172012337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172029470 172046527 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172047139 172051136 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17210101 17210182 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17210101 17210182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172122122 172122857 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172122122 172122866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172127698 172130809 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 172127706 172130809 Gain or loss Breast cancer - 20668451 chr5 172127706 172130809 Gain or loss Cancer - 20668451 chr5 172127706 172130809 Gain or loss Lung cancer - 20668451 chr5 172127706 172130809 Gain or loss Ovarian cancer - 20668451 chr5 172127706 172130809 Gain or loss Pancreas cancer - 20668451 chr5 172127706 172130809 Gain or loss Prostate cancer - 20668451 chr5 172127706 172130809 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 172127707 172130809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172127707 172130809 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172127707 172130809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172139591 172139703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172139593 172139703 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172145087 172145167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172152838 172152927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172193828 172312294 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 172193884 172312289 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172193928 172312287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172193928 172312287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172200000 176500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 172200000 176500000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr5 172200000 176500000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 chr5 172200000 176500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 172200000 176500000 Gain Barrett's adenocarcinoma FISH 18663352 chr5 172200000 176500000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr5 17222365 17270508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 17222365 17270508 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17222365 17270508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172253478 172253547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1723001 1778500 Deletion Glioma mate-paired sequence 20126413 chr5 17231267 17276677 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 172314390 172318977 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 172314763 172318986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172318301 172596600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 172319045 172329378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172319045 172329378 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172319045 172329378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172335054 172335988 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172335111 172335988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172339684 172339773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172343368 172394506 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 172343369 172394506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172343369 172394506 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172343369 172394506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172378411 172380902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 172380337 172380535 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172380337 172380537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172412061 172412164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172412063 172412164 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172415976 172496567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172415976 172496567 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172415976 172496567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172504130 172523989 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172504146 172523950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172504146 172523950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172554030 173516018 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 172563638 172563701 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172563638 172563701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172585445 172585838 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172587001 172597000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 172591712 172594921 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 172591744 172594868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172591744 172594868 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172591744 172594868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172596601 173229100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 172597001 172686500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 17260238 17260338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172613799 172613900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172613800 172613899 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172613801 172613900 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172632838 172633163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 17264600 17264700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172652143 172652232 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172652143 172652232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172674331 172689112 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 172674332 172689112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172674332 172689112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172674339 172688075 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172686501 172691500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 17269304 17270304 Gain Renal cell carcinoma References 21215367 chr5 17270750 17329935 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 17270750 17329935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 17270750 17329935 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17270750 17329935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172721743 172721849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172721747 172721849 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172721749 172721849 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172747088 172747169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172769909 172770009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172783305 172783405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172800000 176600000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr5 172800000 176600000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 chr5 172800000 180915260 Deletion T-cell acute lymphoblastic leukemia Array CGH 18185524 chr5 172800000 180915260 Loss Lung cancer array CGH 17297452 chr5 172822320 172822652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 172859203 172859303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172885499 172886499 Gain Renal cell carcinoma References 21215367 chr5 172903701 172909200 Deletion Glioma mate-paired sequence 20126413 chr5 172905343 172907141 Loss Normal 244K array 17666407 chr5 172905617 172907356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 172923627 172924458 Gain Normal 244K array 17666407 chr5 172932301 172948992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 172935228 172938093 Gain Normal 244K array 17666407 chr5 17293720 17293824 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17293720 17293824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172944918 172945260 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 172953123 172953207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172966753 172976272 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 172967153 172976262 Gain and loss Pancreatic cancer SNP array 17952125 chr5 172967155 172976262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 172967155 172976262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 172967896 172968840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 172967902 172968846 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 172969042 172972737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 172979161 173294386 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 172983362 172983462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 172986135 172987135 Gain Renal cell carcinoma References 21215367 chr5 172986796 172986894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173002485 173017891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 173022990 173023851 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 173109656 173109756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173120333 173153635 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 173151657 173196490 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 173161212 173161284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173188362 173188462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173216680 173216780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173218940 173219040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173229101 173406200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 173247936 173319919 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 173248795 173319916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 173248795 173319916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 173248795 173319918 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17330589 17330689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173326868 173326962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173348779 173365748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 173348779 173365748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 173348806 173365655 Gain and loss Pancreatic cancer SNP array 17952125 chr5 173355110 173355188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17335992 17336092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17338553 17338648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173405330 173468785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 173405330 173468785 Gain and loss Pancreatic cancer SNP array 17952125 chr5 173405330 173468785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 173406201 173988100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 173453723 173498490 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 173472139 173472239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173539700 173540019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1735464 1735776 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 173567819 173567954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173567837 173567927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173573049 173573141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 173577208 174449209 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 173586513 173586613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17359483 17360073 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17359492 17360073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 17359492 17360073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 173611041 174901739 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 173620387 173620470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173708834 173708866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173727472 173727606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173852443 173852543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173872908 173873916 Gain and loss Pancreatic cancer SNP array 17952125 chr5 173872917 173873916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 173910137 173910237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173922710 173922748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173945063 173945213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173948083 173948137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 173983723 174007598 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 17398725 17398964 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17398725 17399061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17398725 17399069 Gain and loss Pancreatic cancer SNP array 17952125 chr5 173988101 175177200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 173998588 173998688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174040965 174041105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174051532 174066729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 174062925 174064315 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 17406982 17407719 Gain and loss Pancreatic cancer SNP array 17952125 chr5 174084180 174090508 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 174084181 174090507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 174084181 174090507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 174084208 174090503 Gain and loss Pancreatic cancer SNP array 17952125 chr5 174088923 174089006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 174091546 174122435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 174136075 174136175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174139965 174140028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17417700 17597918 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 17417700 17757290 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 17417700 17757290 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 17417700 17972161 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 174278691 174355340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 174278691 174355340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 174324530 174369174 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 174368627 174371849 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 17437276 17437372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174413750 174413850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174434636 174434736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174474349 174474815 Gain and loss Pancreatic cancer SNP array 17952125 chr5 174477192 180857866 Amplification Cancer Affymetrix 250K Sty array 20164920 chr5 174483317 174496241 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 174507408 174507558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174542337 175214949 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 17465420 17636603 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 chr5 17465573 17757290 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 17465573 17757290 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 174679920 174679980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174681197 174681235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174750701 174754600 Deletion Glioma mate-paired sequence 20126413 chr5 174800281 174803769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 174800281 174803769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 174800643 174803769 Gain and loss Pancreatic cancer SNP array 17952125 chr5 174810426 174810527 Gain and loss Pancreatic cancer SNP array 17952125 chr5 174810426 174810527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 174838119 174888227 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 174838189 174888201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 174838189 174888201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 174851713 174888290 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17485699 17670547 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 174867458 175511240 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 174878983 174879083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 174962805 175008591 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 174987797 174988108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 174987798 174988036 Gain and loss Pancreatic cancer SNP array 17952125 chr5 174987798 174988036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 174998501 175550500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 175017637 175045851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175017637 175045851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175041069 175044164 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 175042318 175044164 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175063507 175063612 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175063507 175063613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175063509 175063611 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175136520 175195299 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr5 175156216 175243629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175156216 175243629 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175156216 175243629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175163231 175163331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 175165041 175165135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17516661 17524088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 175177201 175442850 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 175186312 175186395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 175231108 175243629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175231108 175243629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175259961 175292340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 17529017 17568789 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 175308632 175308732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 175316037 175450694 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 175319139 175328151 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 175319142 175327886 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175319142 175328151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175319142 175328151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175337984 175685508 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 17534599 17568789 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 175348718 175552119 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 175365760 175366992 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175365763 175366995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17539336 17539938 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175409798 175443147 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr5 175422730 175685508 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 17543741 17568789 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 17544212 17568789 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 175442851 177390950 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 17544429 17568789 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 175444455 175469182 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175444515 175476064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17544470 17544877 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175450694 177069620 LOH Normal High-resolution SNP genotyping 21211785 chr5 175479593 175584441 Deletion Autism Array CGH 22102821 chr5 175492445 177359136 Loss Autism - 20841430 chr5 175493836 175493919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 175496653 175504597 Loss Normal 244K array 17666407 chr5 175504616 177346265 Loss Developmental delay affymetrix genechip 500K/SNP 6.25 array 21147756 chr5 175504664 175584441 Deletion Autism Array CGH 22102821 chr5 17551334 17551936 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 17551334 17551936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 17551334 17551936 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17551334 17551936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17552721 17668647 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 17554620 17566969 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 175550501 175553000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 175553001 175807000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 175553991 175667199 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 175579847 175579946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 175590761 175647615 Loss or gain Normal 244K array 17666407 chr5 175597971 175705594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175597971 175705594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175597975 175705594 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 175623040 175705594 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17563468 17566394 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 175647251 175741143 Gain or loss Breast cancer - 20668451 chr5 175647251 175741143 Gain or loss Cancer - 20668451 chr5 175647251 175741143 Gain or loss Lung cancer - 20668451 chr5 175647251 175741143 Gain or loss Ovarian cancer - 20668451 chr5 175647251 175741143 Gain or loss Pancreas cancer - 20668451 chr5 175647251 175741143 Gain or loss Prostate cancer - 20668451 chr5 17566394 17568801 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 17566969 20739036 LOH Normal High-resolution SNP genotyping 21211785 chr5 175673739 179142783 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 17568801 17644655 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 175705671 175721415 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 175705671 175721415 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 175705674 175721415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175705674 175721415 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175705674 175721415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17570733 17573885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 175725077 175731504 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175725108 175733109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175725108 175733109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175727555 175727640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175735852 175736254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175743556 175748208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175743556 175748208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175743590 175748194 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175743837 175748146 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 175748379 175749366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175748379 175749366 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175748379 175749366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175752061 175776146 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 175752062 175776146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175752062 175776146 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175752062 175776146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17577154 17642507 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 175797036 175807541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 17580066 17643935 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 17580411 17653641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 175807001 175808500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 175807961 175869681 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 175807962 175869671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175807962 175869671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175807984 175869680 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175811369 175811479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17583652 17856890 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 175880104 175996155 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr5 175886305 175897027 Gain or loss Breast cancer - 20668451 chr5 175886305 175897027 Gain or loss Cancer - 20668451 chr5 175886305 175897027 Gain or loss Lung cancer - 20668451 chr5 175886305 175897027 Gain or loss Ovarian cancer - 20668451 chr5 175886305 175897027 Gain or loss Pancreas cancer - 20668451 chr5 175886305 175897027 Gain or loss Prostate cancer - 20668451 chr5 175886306 175897027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175886306 175897027 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175886306 175897027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175887001 175897500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 175889836 175890027 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 175897501 176109500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 175903907 175904262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175907042 175907333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175907053 175907333 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175907053 175907333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175908971 175955375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175908971 175955375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175908998 175955279 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175916311 175916410 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175916311 175916412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17593099 17593701 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175947546 175947633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 175951772 175952237 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr5 175952868 175953266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175955409 175969737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175955409 175969737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 175955411 175969737 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175967737 175967837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 175976466 175976546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 175979817 175990163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 175979817 175990163 Gain and loss Pancreatic cancer SNP array 17952125 chr5 175979817 175990163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17598041 17642612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 175990892 175990977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176001486 176006248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176001486 176006248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176003205 176005587 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176006994 176018664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176006994 176018664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176007031 176018661 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176044888 176044988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176045742 176045842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176128501 176144000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176144001 176219500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176164821 176164883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176170166 176240501 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176170166 176240503 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176170166 176240503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176170166 176240503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176200000 180680000 Gain Breast cancer aCGH 21509527 chr5 176219501 176251000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176223786 176223880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176240064 176240129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176240479 176258939 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176240479 176258939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176240479 176258939 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176240479 176258939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176254984 176256547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 176264611 176366049 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 176264612 176366358 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176264612 176366358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176264612 176366358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176264658 176366358 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176310429 176310529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176316986 176326081 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176318301 176324800 Deletion Glioma mate-paired sequence 20126413 chr5 176320186 176322786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 17632762 17636326 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176382303 176426349 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176382303 176426349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176382303 176426349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176382303 176440796 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17641841 17651548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 17641996 17644036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176427650 176428879 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 17643755 17653628 Loss Normal 244K array 17666407 chr5 17644644 17697847 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 176446493 176457726 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176446521 176457749 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176446521 176457749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176446521 176457749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176446526 176457732 Gain or loss Breast cancer - 20668451 chr5 176446526 176457732 Gain or loss Cancer - 20668451 chr5 176446526 176457732 Gain or loss Lung cancer - 20668451 chr5 176446526 176457732 Gain or loss Ovarian cancer - 20668451 chr5 176446526 176457732 Gain or loss Pancreas cancer - 20668451 chr5 176446526 176457732 Gain or loss Prostate cancer - 20668451 chr5 17644656 17663173 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 176449001 176459000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176449156 176457732 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 17645239 17657379 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176459001 176494500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 17646058 17703106 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 176467832 176468278 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 17648258 17648590 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176492685 176659820 Copy number Sotos syndrome - 16252063 chr5 176493532 176655367 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176493532 176655369 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176493532 176655369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176493532 176655369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17649651 17677358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176500000 180857866 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 chr5 176500000 180857866 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 176500000 180857866 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr5 176500000 180857866 Copy number Breast cancer Affymetrix 16272173 chr5 176500000 180857866 Copy number Normal - 21701786 chr5 176500000 180857866 Copy number Normal BAC array CGH platform 21549014 chr5 176500000 180857866 Copy number Sotos syndrome MLPA 22283845 chr5 176500000 180857866 Deletion Sotos syndrome Affymetrix GeneChip 20503325 chr5 176500000 180857866 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 176500000 180857866 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 chr5 176500000 180857866 Insert Congenital Hypertrichosis Syndrome Affymetrix Genotyping Console 3.0 21636067 chr5 176500000 180857866 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr5 176500000 180857866 Translocation Breast cancer transcriptome sequencing 19181860 chr5 17650689 17676540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 17650937 17654102 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176523408 180626608 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 176550923 176735050 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 1765920 1769339 Copy number Autism exome sequencing 22495311 chr5 176600000 180915260 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 chr5 176600000 180915260 Gain Basal cell lymphoma Array CGH 19029149 chr5 176600000 180915260 Gain Diffuse large b-cell lymphoma Array CGH 19029149 chr5 176600000 180915260 Gain Ehlers-danlos syndrome references 17576883 chr5 176600000 180915260 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 chr5 176600000 180915260 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 chr5 176618378 176654684 Amplification or deletion Cancer Array CGH 17440070 chr5 176625177 176626198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176625183 176626195 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17663173 17698273 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 176653501 176661000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176658608 177422743 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr5 176659951 176879167 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr5 176660805 176663350 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176660805 176663350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176660805 176663350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176660814 176663311 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176661001 176675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176663406 176666555 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176663406 176666555 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176663441 176666555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176663441 176666555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176665107 176671505 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176666821 176671502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176666821 176671502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176666830 176671916 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176675501 176717000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176691188 176711269 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176691357 176711254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176691357 176711254 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176691357 176711254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176692704 176693004 Loss Cancer Human 24 color M-FISH 21215367 chr5 176692704 176693004 Loss Renal cell carcinoma References 21215367 chr5 176699011 176710992 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 176717001 176766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176717449 176732205 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 176717450 176732204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176717450 176732204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176717450 176732204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176717480 176732203 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176721493 176739131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 17673898 17673993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176744041 176758454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176744041 176758454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176744051 176758454 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176744051 176758454 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176758082 176758172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176759770 176760183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176759770 176760183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176759770 176760183 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176759770 176760183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176761747 176769183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176761747 176769183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176761747 176769183 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176761747 176769183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176766001 176785500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176785501 176878000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176786292 176802456 Copy number Breast cancer - 21806811 chr5 176786293 176802456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176786293 176802456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176786294 176802437 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176786409 176802456 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176787087 176787161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176789751 176789832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176806400 176815889 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 176806400 176815889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176806400 176815889 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176806400 176815889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176809021 176809454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176816219 176833300 Gain or loss Breast cancer - 20668451 chr5 176816219 176833300 Gain or loss Cancer - 20668451 chr5 176816219 176833300 Gain or loss Lung cancer - 20668451 chr5 176816219 176833300 Gain or loss Ovarian cancer - 20668451 chr5 176816219 176833300 Gain or loss Pancreas cancer - 20668451 chr5 176816219 176833300 Gain or loss Prostate cancer - 20668451 chr5 176816219 176833300 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 176816220 176833271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176816220 176833271 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176816220 176833271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176827578 176827633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 176827660 176827741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176843001 176857208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176843001 176857208 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176843001 176857208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176849251 176849551 Loss Cancer Human 24 color M-FISH 21215367 chr5 176849251 176849551 Loss Renal cell carcinoma References 21215367 chr5 176861514 176869992 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176862652 176869459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176862652 176869459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176870802 176915624 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176871183 176876573 Copy number Breast cancer - 21806811 chr5 176871185 176876573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176871185 176876573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176871185 176877076 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176875901 176879800 Deletion Glioma mate-paired sequence 20126413 chr5 176878001 176967000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176879037 176911917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176879395 176914144 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 176879397 176914114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176879397 176914114 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176879397 176914114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17688079 17688363 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176893660 176894660 Gain Osteosarcoma References 21215367 chr5 176900937 176901035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176901216 176901316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176941040 176952428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176944527 176960647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 176947414 176947503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176948902 176949002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176951818 176955705 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 176951819 176955700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176951819 176955700 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176951819 176955700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176952466 176953466 Gain Osteosarcoma References 21215367 chr5 176955299 176955375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 176959725 176969880 Gain and loss Pancreatic cancer SNP array 17952125 chr5 176959778 176969929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 176959778 176969929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 176967001 176969500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176969501 177155000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 176978509 176978967 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17698273 17711504 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 17698274 17830332 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 177003000 177058000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 17702074 17702807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 177068866 177101111 Gain Normal 244K array 17666407 chr5 177070843 177140072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177070843 177140072 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177070843 177140072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177076539 177239241 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 177090005 177131055 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 177090005 177131055 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 177113005 177158524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 177113927 177152887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 17711504 17725119 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 17712407 17712615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17712617 17712847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 177130549 177289297 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 177131055 177160157 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 177135371 180638184 LOH Normal High-resolution SNP genotyping 21211785 chr5 177154491 177308000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 177155001 177173750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177160157 177165211 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 177160157 177165211 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 177173751 177264000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177196026 177197292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177196035 177197271 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177235129 177243843 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 177235202 177243437 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177235202 177243873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177235202 177243873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17725119 17730313 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 177259221 177293365 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 177260988 177295919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 177264001 177305500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177268072 177268164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177305501 177337500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177310051 177312881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 177331295 177346285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 177331334 177331888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177331379 177331888 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177337501 177344000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177344001 177474000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177351841 177355849 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 177351842 177355849 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 177351842 177355849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177351842 177355849 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177351842 177355849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177368295 177407262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 177368295 177407262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177368295 177407262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177377615 177377715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17738170 17784943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 177390951 177530100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177407696 177407796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 177414996 177415873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177414996 177415873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177415196 177415801 Gain and loss Pancreatic cancer SNP array 17952125 chr5 17744739 17751224 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 177473161 177485713 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 177473162 177482007 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177473162 177485713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177473162 177485713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177474001 177484000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177484001 177591500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177490603 177508118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177490603 177508118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177490618 177508156 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177490633 177508085 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 177501908 177688820 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 chr5 177509071 177513567 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 177509074 177513502 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177509074 177513567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177509074 177513567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177523392 177523392 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 177530101 180857866 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177541057 180857866 Deletion Cancer Affymetrix 250K Sty array 20164920 chr5 177545326 177546906 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177545326 177546906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177563532 177566797 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 177564114 177570769 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177564114 177570787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177564114 177570787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177568146 177592409 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 177568195 177592397 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177568197 177592392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177568197 177592392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177575413 177575533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 177591501 177757000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177597225 177949804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177597227 177949804 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177653877 177654138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 17766514 31520799 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 chr5 177694569 177694646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 17770377 30945824 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 177719650 177719750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 177737531 177737825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177737531 177737827 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177737531 177737827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177752901 177758100 Deletion Glioma mate-paired sequence 20126413 chr5 177757001 177895000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177781035 177785186 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 177789529 177789610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 177843113 177843213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 177844702 177893478 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr5 177884627 177885286 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 177888844 177888937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 177895001 177897000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177897001 178340500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 177903023 177934931 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr5 177910285 178322843 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 177932661 177955808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 177940949 177947970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 177942564 177952843 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 177962270 177986660 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 177962272 177986660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 177962272 177986660 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177962272 177986660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177963590 177963670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 177977679 178084843 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr5 177979428 177979599 Gain and loss Pancreatic cancer SNP array 17952125 chr5 177979428 177979599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 177980034 178704378 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-495K arrays 21546498 chr5 178007706 178048621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 178039342 178065405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 178039434 178044445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 178040669 178061207 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 178041667 178046023 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 178041668 178046017 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 178041668 178046338 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr5 178041781 178045925 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 178042581 178045769 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 178042581 178045769 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 178049001 178053700 Deletion Glioma mate-paired sequence 20126413 chr5 178071127 178090309 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 178071137 178090309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178071137 178090309 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178071137 178090309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178084843 178179234 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr5 178114363 178114433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178124469 178135883 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 178126805 178141952 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178191212 178198773 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 178191370 178191837 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 178219559 178244029 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 178219560 178244614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178219560 178244614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178219560 178244635 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178244322 178244486 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178244322 178244486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178255522 178292816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178255522 178292816 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178255522 178292816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178269314 178270212 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178269314 178270212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178278419 178283846 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 178279431 178299673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 178280969 178285801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 178300829 178326040 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 178300830 178326040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178300830 178326040 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178300830 178326040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178324702 178354730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178324702 178354730 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178324702 178354730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178337935 178354730 Copy number Lung cancer - 20668451 chr5 178337935 178354730 Gain or loss Breast cancer - 20668451 chr5 178337935 178354730 Gain or loss Cancer - 20668451 chr5 178337935 178354730 Gain or loss Lung cancer - 20668451 chr5 178337935 178354730 Gain or loss Ovarian cancer - 20668451 chr5 178337935 178354730 Gain or loss Pancreas cancer - 20668451 chr5 178337935 178354730 Gain or loss Prostate cancer - 20668451 chr5 178340501 178356500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 178361112 178361223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 178383381 178393993 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 178383412 178394655 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178416957 178443193 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 178420022 178443029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178420022 178443029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178420213 178440295 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178458686 178458786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178473457 178704936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178473457 178704936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178473474 178704935 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178479001 178734000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 178510735 178704935 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 178573693 178573792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 178588914 178589089 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 178593872 178876935 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 178593872 178970135 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 178609733 178609802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178662194 178666508 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 178666508 178681593 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 178681593 178863916 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 178685529 178685622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178686534 178688377 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 17871636 17871669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178724851 178724951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178734001 178740500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 178741065 178741165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178755968 178787453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 178764001 178800500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 178777831 178777880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178800501 179151500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 178851614 178851764 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178851646 178851764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178864246 178864339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178879497 178901083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 178895553 178895627 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 178903295 178903359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178910165 178969633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178910165 178969633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178910177 178969618 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178919337 178969625 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 178937816 178968345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 178940562 178940594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 178973537 179028912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 178973785 178984276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 178973785 178984276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 178973786 178984276 Gain and loss Pancreatic cancer SNP array 17952125 chr5 178984144 179028912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 178984748 179028912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 178985151 179028912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 178989051 178989105 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 178989081 179019088 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 178989081 179029074 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 178998248 179028912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 178999764 179000274 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 179001166 179004614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179008319 179010856 Gain Normal 244K array 17666407 chr5 179011149 179012840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179011149 179012840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179015067 179028912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 179016863 179037922 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 179035024 179069101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 179038274 179038678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179042984 179043054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 179053804 179054301 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179058535 179091245 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 179058536 179091243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179058536 179091243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179058602 179090532 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179092456 179156118 Gain or loss Breast cancer - 20668451 chr5 179092456 179156118 Gain or loss Cancer - 20668451 chr5 179092456 179156118 Gain or loss Lung cancer - 20668451 chr5 179092456 179156118 Gain or loss Ovarian cancer - 20668451 chr5 179092456 179156118 Gain or loss Pancreas cancer - 20668451 chr5 179092456 179156118 Gain or loss Prostate cancer - 20668451 chr5 179092457 179136887 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179092457 179156118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179092457 179156118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179137119 179138798 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179148675 179180439 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 179151501 179165500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179153592 179156117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179153592 179156117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179153592 179156119 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179156711 179166547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179156711 179166547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179157216 179166434 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179157884 179157952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179165501 179228000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179175186 179769465 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr5 179180503 179196199 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179180503 179197681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179180503 179197681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179185359 179832927 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 179196784 179218466 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179196873 179218446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179196873 179218446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179205438 179205674 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179205438 179205752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179205438 179205769 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179206643 179206736 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179206644 179206735 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179209668 179209761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 179221679 179267464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179221679 179267464 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179221679 179267464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179228001 179234500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179234501 179238000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179238001 179240000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179240001 179250500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179250501 179254000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179254001 179266500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179266501 179268500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179268501 179279500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 17926915 17971662 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 179277706 179311695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 179315080 179431715 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179315111 179431719 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 179315111 179431719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179315111 179431719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179343601 179422900 Deletion Glioma mate-paired sequence 20126413 chr5 179369177 179369297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 179374909 179375003 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr5 179374909 179375003 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179374909 179375003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 17938159 17938259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 179430501 179457000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179445323 179446609 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179445323 179446648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179457001 179461500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179460397 179568774 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 179460397 179568774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179460397 179568774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179460400 179568736 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 179460402 179568745 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179461501 179504000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179467083 179662550 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 179467100 180610700 Gain Prostate cancer Array CGH 18632612 chr5 179504001 179567000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179506251 179507251 Gain Renal cell carcinoma References 21215367 chr5 179567001 179576500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179575729 179576729 Gain Renal cell carcinoma References 21215367 chr5 179576501 179693500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179585984 179586608 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179595388 179640218 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 179595388 179640218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179595388 179640218 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179595388 179640218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179595389 179651573 Gain or loss Breast cancer - 20668451 chr5 179595389 179651573 Gain or loss Cancer - 20668451 chr5 179595389 179651573 Gain or loss Lung cancer - 20668451 chr5 179595389 179651573 Gain or loss Ovarian cancer - 20668451 chr5 179595389 179651573 Gain or loss Pancreas cancer - 20668451 chr5 179595389 179651573 Gain or loss Prostate cancer - 20668451 chr5 179605634 179651677 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 179617565 179619581 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179660296 179712931 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 179660296 179712931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179660296 179712931 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179660296 179712931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179660305 179712921 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 179662327 179662411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 179677071 179677378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 179693501 179751500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179751501 179795000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179772182 179772282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 179783383 179783483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 179795001 179797000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179804114 179804217 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179804115 179804214 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179804115 179804218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179818501 179829500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179838795 180857866 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 179851718 180857866 Copy number Lung cancer paired-end sequencing 18438408 chr5 179854023 179938011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 179854023 179938011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179854023 179938011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179854174 179937955 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179866542 179866597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 179949501 179984000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179949712 179951146 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 179949712 179951146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179949712 179951146 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179949712 179951146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179961111 180009230 Copy number Lung cancer - 20668451 chr5 179961111 180009230 Gain or loss Breast cancer - 20668451 chr5 179961111 180009230 Gain or loss Cancer - 20668451 chr5 179961111 180009230 Gain or loss Lung cancer - 20668451 chr5 179961111 180009230 Gain or loss Ovarian cancer - 20668451 chr5 179961111 180009230 Gain or loss Pancreas cancer - 20668451 chr5 179961111 180009230 Gain or loss Prostate cancer - 20668451 chr5 179961112 180009206 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 179961112 180009206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 179961112 180009206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 179962143 180009171 Gain and loss Pancreatic cancer SNP array 17952125 chr5 179967358 180009230 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 179984001 179993500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179993501 180007500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 179998705 179998848 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 180001314 180001414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180005366 180005466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180006183 180006224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180007501 180857866 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 180019804 180214082 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 180043738 180155379 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 180043738 180155379 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 180043738 180156968 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 180043738 180156968 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 180044595 180045767 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr5 180048423 180148872 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 180052516 180053366 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180052516 180053366 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180063306 180063406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180074576 180074651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180075292 180075392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180089192 180089329 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180089192 180089338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180089192 180089345 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180098729 180099664 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180098729 180099664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180098729 180099664 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180098729 180099664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180104835 180128467 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 180110162 180115667 Gain Normal 244K array 17666407 chr5 180114006 180128468 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180117061 180117328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 18012523 18045732 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 180142802 180206442 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180144441 180186237 Amplification or deletion Cancer Array CGH 17440070 chr5 180149575 180151123 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr5 180150147 180175147 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180150147 180175147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180150147 180175147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180150154 180175147 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180189564 180195331 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 180193508 180365139 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 180208398 180210482 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180208398 180210585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180208398 180210585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180214231 180214331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 802192 LOH Normal High-resolution SNP genotyping 21211785 chr5 180226355 180226455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180227796 180227896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180237472 180237544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180258735 180310510 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180258735 180310510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180258735 180310510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180258765 180310510 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180269444 180269530 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180269444 180269530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180269444 180269533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180275259 180361882 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 180275259 180361882 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 180275411 180275511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180292452 180361882 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 180292452 180361882 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 180292983 180339824 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180304774 180311316 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 180307129 180339824 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180307129 180350517 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 180307129 180350697 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180307129 180350709 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 180307130 180349800 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 180307216 180365215 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 180307216 180366586 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 180307637 180363332 Deletion Non-syndromic sensorineural hearing loss Targeted BAC,610K, Agilent24M 19587683 chr5 180309608 180361882 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 180309608 180361882 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 180309761 180362669 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr5 180309941 180365863 Amplification Mental retardation MLPA Pos 20877625 chr5 180309991 180327250 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr5 180309991 180350817 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 chr5 180310505 180364142 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 180310505 180364142 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 180311316 180347071 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 180311316 180350709 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 180311316 180350709 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 180311316 180384500 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 180311482 180347059 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180311482 180350697 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180311482 180365870 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180311482 180375514 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180312797 180347059 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180312797 180350697 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180312797 180365870 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180326275 180326375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180341879 180342217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180341879 180342217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180342291 180342889 Gain Normal 244K array 17666407 chr5 180343398 180363121 Gain Normal 244K array 17666407 chr5 180344964 180362394 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 180347071 180350709 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 180348507 180366317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180348507 180366317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180348507 180366317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180348507 180366332 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180350709 180365870 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 180366887 180366989 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180366887 180366990 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180366887 180366990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180368705 180368805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180375026 180722927 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.23 20877625 chr5 180382084 180407136 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 180397975 180421857 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 180398553 180414425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 180399830 180421128 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 180399843 180421121 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180399854 180421121 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180399854 180421121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180399854 180421121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180400001 180427338 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 180458746 180460265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180458746 180460286 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180459118 180484381 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 180468964 180469064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180473683 180474864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180473749 180474864 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180484120 180484910 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180484120 180484910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180486005 180520184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 180493067 180495738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 180494272 180495633 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 180501840 180502584 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 180501863 180505153 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 180514549 180515496 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180514549 180515496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180514549 180515496 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180514549 180515496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180524170 180524251 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180524170 180524251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180533481 180553237 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 180552353 180552453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180553531 180564783 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180553531 180564783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180553531 180564783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180553531 180564899 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180579643 180593501 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180582896 180595414 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180582896 180595414 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180582912 180595414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180582912 180595414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180596531 180603508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180596536 180603512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180596536 180603512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180601422 180601497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180601424 180601495 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180602918 180602984 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180602918 180602985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180602920 180602982 Gain and loss Pancreatic cancer SNP array 17952125 chr5 180612681 180614019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 180615326 180617184 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 18061596 18498460 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 180615994 180620725 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 180615994 180620725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180615994 180620725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180646000 180686000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 180661068 180661150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 180661574 180661677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180661575 180661677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180726894 180727832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 180831570 180832035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 180831570 180832035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 18085637 18085737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18089014 18089114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18106811 18106900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1812637 1812869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 8200000 Amplification Lung cancer aCGH 21911935 chr5 1 8200000 Copy number Cri-du chat syndrome BAC array CGH platform 21549014 chr5 1 8200000 Copy number Normal - 21701786 chr5 1 8200000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 1 8200000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr5 1 8200000 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss FISH and chromosome banding 20606397 chr5 1820250 2972588 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 18207584 18207645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1822059 1822305 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 1822072 1822292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 18257419 18257568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18261051 18845474 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 18271989 18272062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 18301254 19436094 LOH Normal High-resolution SNP genotyping 21211785 chr5 18321458 18321537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18355596 18355696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 183931 36816731 Deletion prenatal diagnosis arrayCGH 22389664 chr5 18400000 121500000 Loss Glioblastoma multiforme aCGH 21080181 chr5 18400000 167400000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr5 18400000 23300000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr5 18400000 42500000 Gain Non-small cell lung cancer FISH 19010865 chr5 18400000 63000000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr5 1845474 3234008 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 18459553 18786435 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-496K arrays 21546498 chr5 18460734 18505930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 18483152 18514923 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 18500000 23300000 Copy number Normal - 21701786 chr5 18500000 23300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 18500000 23300000 Gain Malignant fibrous histiocytomas aCGH 21085701 chr5 18500000 23300000 Loss Colorectal cancer Copy Number Analyzer for Affymertix GeneChip Mapping arrays v2.0,Affymetrix Genotyping Console v2.1 21128281 chr5 18500000 24700000 Inversion Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr5 18500000 45800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 1851498 1852956 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 1851499 1852946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 1851499 1852946 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1851499 1852946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1851500 1852951 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1854509 1869161 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1854509 1869161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1854514 1869161 Gain and loss Pancreatic cancer SNP array 17952125 chr5 18570007 18570166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18570046 18570141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18570156 18570296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18570202 18570302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18583178 18583471 Gain and loss Pancreatic cancer SNP array 17952125 chr5 18583178 18583471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 18601654 18601719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18638925 18639025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18639759 18639859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18643074 18712210 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 1871630 1961980 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr5 18721790 18721874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18764837 18925538 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 18770511 18904730 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 18776343 18834802 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 18776343 18869433 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 18778370 18778470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18798804 21338076 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 1883374 11945478 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 18850431 18850554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 18874717 26168302 Loss Prostate cancer Array CGH 18632612 chr5 18909070 18910604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 18916073 19372715 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-504K arrays 21546498 chr5 18953946 18987227 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 189749 214394 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 18994014 18994279 Gain and loss Pancreatic cancer SNP array 17952125 chr5 18994014 18994279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 1899501 1943500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 19000000 33600000 Copy number Autism References 18923513 chr5 19000000 33600000 Copy number Compulsive disorder References 18923513 chr5 19000000 33600000 Copy number Epilepsy References 18923513 chr5 19000000 33600000 Copy number Mental retardation References 18923513 chr5 19000000 33600000 Deletion Prader-willi syndrome References 18923513 chr5 190208001 180857866 Deletion Glioma mate-paired sequence 20126413 chr5 19032960 19033035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 19052242 19372715 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-480K arrays 21546498 chr5 19066044 19245996 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 19082794 19082894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 19083635 19168423 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 19099826 19143649 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 19109015 19109115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 19231823 19828614 LOH Normal High-resolution SNP genotyping 21211785 chr5 19232410 19280609 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 19241471 19241541 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 1930549 1935880 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 1930549 1935880 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1930549 1935880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 19313635 19323740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 19315328 19323214 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 19318134 19632250 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 19334163 19335163 Loss Renal cell carcinoma References 21215367 chr5 193373 243081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 193373 243087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 193373 243087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 193681 237922 Gain and loss Pancreatic cancer SNP array 17952125 chr5 1938916 1938975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 19409998 19410998 Loss Renal cell carcinoma References 21215367 chr5 19410043 19411043 Loss Renal cell carcinoma References 21215367 chr5 19410578 19412168 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 19410603 19412139 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 19411027 19412150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 1943501 1985000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 19485627 19518746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 19489947 19841846 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 19495323 19495423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 19508898 20024096 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 19508898 20024096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 19508898 20024096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 19508914 19875110 Gain and loss Pancreatic cancer SNP array 17952125 chr5 19532212 20357961 Loss Autism qPCR 20531469 chr5 19572022 20866669 LOH Normal High-resolution SNP genotyping 21211785 chr5 19632250 21345610 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 19720000 23090000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr5 197202 197312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 19769152 19769251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1977591 1978202 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 19793875 19793975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1 9800000 Gain Sudden cardiac death CGH 19188705 chr5 1985001 2813500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 19855564 19855596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 19885496 19885609 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 19906605 20606744 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 19928400 19928500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 1994145 1994454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 19992225 19992325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 20000 1910000 Gain Breast cancer aCGH 21509527 chr5 20033320 20033420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2004013 2004419 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2004019 2004479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 20054654 20054963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 20055982 20056082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 20066101 20066201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 20085845 20592199 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 20104779 20104874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 20163043 20166859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2019401 2026800 Deletion Glioma mate-paired sequence 20126413 chr5 2020628 2063091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 20207085 20207164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2021396 2024583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2021443 2021488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 20230422 20263608 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 20245641 20245741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 203294 153778073 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr5 2033116 20722591 Copy number Lung cancer paired-end sequencing 18438408 chr5 20339911 20341304 Gain and loss Pancreatic cancer SNP array 17952125 chr5 20339911 20341319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 203859 298137 Gain aortic dissecting aneurysms Array-CGH 22263138 chr5 203859 298137 Gain Stenocardia MACArray Karyo 32K BAC-chips 21860640 chr5 203859 298137 Gain Vasospasm MACArray Karyo 32K BAC-chips 21860640 chr5 20415278 20440467 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 204439 178661437 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr5 204537 45681434 Gain Bladder cancer array-CGH 21909424 chr5 20455450 20464231 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 20472864 20480088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 20472958 20480059 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 20507734 20530987 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr5 20526502 20526582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 205275 392087 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 20531026 20556098 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 20593726 20593863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 20593771 20593910 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 20659314 24608808 Copy number Normal Quantitative Real-Time PCR 17666543 chr5 20694526 20696079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 20728000 20775000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 20755071 20964819 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 20764591 21478276 Copy number Lung cancer paired-end sequencing 18438408 chr5 20852000 20887429 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 20859734 20887015 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 20868092 20869092 Loss Renal cell carcinoma References 21215367 chr5 20881639 21978329 LOH Normal High-resolution SNP genotyping 21211785 chr5 20934000 20971000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 20935550 21610235 LOH Normal High-resolution SNP genotyping 21211785 chr5 20939539 24843767 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 2097117 2112311 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 2097117 2116667 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 20977755 31437543 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 21080515 21080615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21121627 21121712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21184910 21371517 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21184910 21573124 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21184910 21573124 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21184910 21634747 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21184910 21634747 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21184910 21748947 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr5 21184910 21748947 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21199326 21199424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21207588 21207734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21238791 21255550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21240584 21262595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21242111 21265262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21287823 21288402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 21294241 21355130 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr5 2133301 2137400 Deletion Glioma mate-paired sequence 20126413 chr5 21374550 21413598 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 21377838 21406308 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr5 21395215 21502370 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 21414175 21414238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21421490 21634747 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21421490 21634747 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21431755 21487755 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 2144502 2196119 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 21470635 21554497 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 21473394 21475995 Loss Normal 244K array 17666407 chr5 21479901 21526476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21483396 21488089 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 21483396 21488089 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 21484001 21489600 Deletion Glioma mate-paired sequence 20126413 chr5 21485022 21488240 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 21485927 21488215 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 21485958 21561508 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 21485973 21487886 Loss or gain Normal 244K array 17666407 chr5 21486945 21487743 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 21487022 21487743 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 21493964 21634747 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21495407 21510297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 21495407 21510297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 21495422 21622674 Gain and loss Pancreatic cancer SNP array 17952125 chr5 215001 253500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 21505095 21515845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21507322 21515978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21508117 21516025 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21511147 21513252 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 21514808 21517884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21515805 21517016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21516483 21520832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21516547 21518386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21517784 21519361 Gain and loss Pancreatic cancer SNP array 17952125 chr5 21518572 21519699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21522041 21522804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21522421 21523481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21522510 21523359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21522777 21524325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21523094 21595614 Copy number Lung cancer paired-end sequencing 18438408 chr5 21523228 21549078 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21525683 21527202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21525833 21543502 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21527189 21532988 Gain and loss Pancreatic cancer SNP array 17952125 chr5 21527189 21534042 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 21527189 21534042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 21527860 21529394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21529449 21529819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 21536096 21604854 Copy number Lung cancer paired-end sequencing 18438408 chr5 21570654 21570744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21578767 21578940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 21598644 45107526 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 21610418 22602721 Copy number Lung cancer paired-end sequencing 18438408 chr5 21611116 25843236 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 21620534 45430124 Copy number Lung cancer paired-end sequencing 18438408 chr5 21635982 21636082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21647603 21650533 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 21647603 21650533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 21648363 21650531 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 21687326 21687648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 21719593 21753115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 21768009 21794257 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 21768492 21794257 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 21770077 21770170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 21786732 22541233 Gain and loss Pancreatic cancer SNP array 17952125 chr5 21786732 22889488 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 21786732 22889488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 21786732 22889488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 21809249 21809349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21814498 21999576 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21814498 22126275 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21814498 22199675 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21848237 21999576 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21848237 22126275 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21848237 22126275 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21848237 22199675 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21848237 22199675 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21869975 21918298 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 21869980 21873283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2188055 2188144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 21903959 21904057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 21918479 21918925 Copy number Normal Paralogue Ratio Test systems 17175532 chr5 21919402 21920178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 21919402 21920178 Gain and loss Pancreatic cancer SNP array 17952125 chr5 21919402 21920178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 21945833 22169149 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 21945833 22199675 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 2195648 2195701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 21962652 21994021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 2203273 13558432 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 22051408 25176459 LOH Normal High-resolution SNP genotyping 21211785 chr5 22059999 32199271 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-473K arrays 21546498 chr5 22080194 22080242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 22085720 22160425 Gain Normal 244K array 17666407 chr5 22178218 22178769 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 22178218 22178769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 22178218 22188222 Gain and loss Pancreatic cancer SNP array 17952125 chr5 22218000 22238382 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 2225209 2225309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 22272042 22272142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 22348287 22348381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2237824 2237932 Gain and loss Pancreatic cancer SNP array 17952125 chr5 2237824 2237933 Gain and loss Pancreatic cancer SNP array 17952125 chr5 2237824 2237934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 22402839 23071052 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 22617001 28718446 Copy number Lung cancer paired-end sequencing 18438408 chr5 22699011 23194868 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr5 22702092 22702192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2279203 2279303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 22832368 22832685 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 22840925 22841015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 228874 229394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2298410 2298510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23116919 23117019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23119087 23153751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 2312512 2347688 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 2312512 2348076 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 23279157 23314979 Loss Autism - 20841430 chr5 23300000 24700000 Copy number Normal - 21701786 chr5 23300000 66500000 Gain Non-small cell lung cancer dChip 21829676 chr5 23300000 91900000 Loss Breast cancer array-CGH 22032731 chr5 2330484 2347688 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 23335021 23335126 Gain and loss Pancreatic cancer SNP array 17952125 chr5 23335021 23335128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 23377160 23377395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2337892 2337992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23396393 23396493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23410295 23410611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 23449507 23449823 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 23461585 23461617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23491899 23491999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2352140 2445118 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr5 23543481 23564463 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 23543481 23564463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 23543481 23564463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 23558488 23578224 Gain and loss Pancreatic cancer SNP array 17952125 chr5 23567817 23567917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23589079 23589179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23620572 23620646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23623415 25836846 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 2371337 2371436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2373003 2972588 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 23851440 23851532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 23858860 25190848 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 23937101 23943000 Deletion Glioma mate-paired sequence 20126413 chr5 23938752 23940988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 23938982 23941046 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 23946180 23946465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 23987214 24214129 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 23987430 24015852 Gain and loss Pancreatic cancer SNP array 17952125 chr5 24000834 24006686 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 24008053 24008153 Gain and loss Pancreatic cancer SNP array 17952125 chr5 24008053 24008153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 24030368 24030469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 24030369 24030469 Gain and loss Pancreatic cancer SNP array 17952125 chr5 24030370 24030469 Gain and loss Pancreatic cancer SNP array 17952125 chr5 24077067 24151845 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 24093870 24093965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24127365 24127689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 24150291 24150534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24206060 24206766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 24236652 24236747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24383402 24554383 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 24384588 24403800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 24403513 24410308 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 24404301 24410900 Deletion Glioma mate-paired sequence 20126413 chr5 24406285 24409193 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 24447237 24447337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 244618 248468 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 244618 248468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 244618 248468 Gain and loss Pancreatic cancer SNP array 17952125 chr5 244618 248468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 24471417 24471517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24488597 24488918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 24507916 24507994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24522967 24680668 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 24522967 24680668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 24522967 24680668 Gain and loss Pancreatic cancer SNP array 17952125 chr5 24522967 24680668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 24545450 24623946 Loss Autism qPCR 20531469 chr5 24604327 24613357 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 24613684 24613784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24665098 24695161 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 24700000 29300000 Copy number Normal - 21701786 chr5 24763216 24763303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24794276 24795276 Gain Renal cell carcinoma References 21215367 chr5 24828074 25089177 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 24847347 24847414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 24882495 24882570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2494244 2494317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24943482 24943582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 24946460 24946559 Gain and loss Pancreatic cancer SNP array 17952125 chr5 24946460 24946561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 24946461 24946560 Gain and loss Pancreatic cancer SNP array 17952125 chr5 24950240 24995172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 25005675 25005775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25021657 25021757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25066894 25066994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25093114 25093214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25107428 25110163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2511270 2511370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25121394 25414219 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 25121416 25298271 Duplication Depressive disorder Perlegen 600K platform 21152026 chr5 25148508 25337948 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 25176459 25233968 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 252099 252575 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 252099 252575 Gain and loss Pancreatic cancer SNP array 17952125 chr5 25233722 25233925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25233913 25234063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25233968 28701125 LOH Normal High-resolution SNP genotyping 21211785 chr5 2524254 2524354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25256958 25257048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25293376 25293476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25311153 25311477 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 253501 338000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 25350369 25350705 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25351955 25352261 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25370 68609013 Gain or loss Breast cancer - 20668451 chr5 25370 68609013 Gain or loss Cancer - 20668451 chr5 25370 68609013 Gain or loss Lung cancer - 20668451 chr5 25370 68609013 Gain or loss Ovarian cancer - 20668451 chr5 25370 68609013 Gain or loss Pancreas cancer - 20668451 chr5 25370 68609013 Gain or loss Prostate cancer - 20668451 chr5 2547273 2577391 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 25481625 25482099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25515847 25516058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25540407 25540507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25546960 25572846 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 25609980 25610080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25684317 25684397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25692113 31373841 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 25700000 76400000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr5 25700000 76400000 Deletion Spinal muscular atrophy real-time PCR 21762474 chr5 25700000 76400000 Loss Esophageal cancer Affymetrix U133A 2.0 chip 20955586 chr5 25703388 27367129 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 2570709 17880644 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 25737083 25737188 Gain and loss Pancreatic cancer SNP array 17952125 chr5 25737083 25737188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 25737083 25737189 Gain and loss Pancreatic cancer SNP array 17952125 chr5 25753286 25753386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 257874 271297 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 257875 271297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 257875 271297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 257875 271297 Gain and loss Pancreatic cancer SNP array 17952125 chr5 257875 271297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 25795129 25795229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25813064 25813387 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25833862 25834862 Loss Renal cell carcinoma References 21215367 chr5 2584797 2585118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25857539 25862604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25869109 25869406 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25924621 25924846 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25925534 25927649 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 25925561 25928145 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 2594753 2595033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 25948467 25948563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 25999396 43795937 Gain Prostate cancer Array CGH 18632612 chr5 26027946 26034694 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 26036371 26036446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 26048755 26048891 Gain and loss Pancreatic cancer SNP array 17952125 chr5 26048755 26048892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 26048755 26048894 Gain and loss Pancreatic cancer SNP array 17952125 chr5 260504 180003855 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 260504 8439088 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 26082399 27452664 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 26125358 26125458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 26143580 30484916 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 26145301 26149100 Deletion Glioma mate-paired sequence 20126413 chr5 26146944 26147269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 26151964 26152092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 26154913 26155149 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2616428 3740293 LOH Normal High-resolution SNP genotyping 21211785 chr5 2617584 2617691 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 26219551 26238133 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 chr5 26222013 26222072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 26271501 26273000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 26302256 26302356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 26358425 46419092 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 26358792 26362734 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 26366030 26366130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 26387999 26389073 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 26526175 27619649 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 26540435 26644029 Gain or loss Breast cancer - 20668451 chr5 26540435 26644029 Gain or loss Cancer - 20668451 chr5 26540435 26644029 Gain or loss Lung cancer - 20668451 chr5 26540435 26644029 Gain or loss Ovarian cancer - 20668451 chr5 26540435 26644029 Gain or loss Pancreas cancer - 20668451 chr5 26540435 26644029 Gain or loss Prostate cancer - 20668451 chr5 26541582 26541682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2656422 2656502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 26636475 26636592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 26648165 26648265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 26689664 26689727 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 26719904 26720054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 26791054 26970598 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 26797447 26842291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 26800717 26846056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 26814160 26840789 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 26830501 26839700 Deletion Glioma mate-paired sequence 20126413 chr5 26831817 26837917 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 26832455 26837657 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 26832456 26837654 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 26832459 26837664 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 26885187 26910217 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 26886211 26886311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 26900059 26900122 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 26910217 28090711 LOH Normal High-resolution SNP genotyping 21211785 chr5 26916466 27074431 Gain and loss Pancreatic cancer SNP array 17952125 chr5 26916466 27074446 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 26916466 27074446 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 26916466 27074446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 27027147 27027247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 271355 309814 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 271401 309791 Gain and loss Pancreatic cancer SNP array 17952125 chr5 271439 309794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 271439 309794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 271447 309794 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 27147433 27147538 Gain and loss Pancreatic cancer SNP array 17952125 chr5 27147433 27147538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 27233747 27233847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2724978 2725078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 27276344 27276441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 27422992 27423084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 27480329 27480429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 27558701 27563700 Deletion Glioma mate-paired sequence 20126413 chr5 27559816 27562150 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 27560642 27561972 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 27561143 27561777 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 27623912 27624012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2763416 2763516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 27798169 27831412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 2785282 2818682 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 27911348 28372366 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 27911348 30200233 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 27970956 27971056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2798959 2804774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 2798959 2804774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 2799280 2804769 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 2799284 2804537 Gain and loss Pancreatic cancer SNP array 17952125 chr5 2799880 2804776 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 28022039 28022149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 28029700 28029800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2805258 2808511 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 2805258 2808511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 2805261 2808511 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 2805262 2808511 Gain and loss Pancreatic cancer SNP array 17952125 chr5 2813501 2948500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 281 68541940 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr5 281 68541940 Copy number Gastric cancer FISH 22152101 chr5 281 68541940 Copy number Oesophago-gastric ulcer FISH 22152101 chr5 28169133 28169233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28201814 28246448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 2822424 2822640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 28244609 28264194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 28250871 28250971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28252415 28261056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 28254644 28258446 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 282584 70424776 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 28280318 28313407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 28281439 28289045 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 28314762 28314912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28357886 29602983 LOH Normal High-resolution SNP genotyping 21211785 chr5 2837713 2837823 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 28377273 28377373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28381188 28381353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28381371 28381570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28392700 28392987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2840558 2841640 Gain and loss Pancreatic cancer SNP array 17952125 chr5 2840558 2841646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 28413221 28413311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28427525 28630668 Deletion Intellectual disability Array CGH 22102821 chr5 28525495 28531475 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 28526756 28531362 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 28548554 28565694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 28549024 28718875 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 28551361 28551461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28557287 30488774 Deletion Normal - 21701786 chr5 28574845 29245245 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 28581450 28581546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28607669 28607769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28633386 28633486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28660521 28660629 Gain and loss Pancreatic cancer SNP array 17952125 chr5 28660521 28660629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 28674382 28762979 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 28677284 28712381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2872405 2874251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 28732604 28821696 Copy number Lung cancer paired-end sequencing 18438408 chr5 28734457 32805201 LOH Normal High-resolution SNP genotyping 21211785 chr5 28809993 28844182 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 28839248 32249841 Copy number Lung cancer paired-end sequencing 18438408 chr5 28842013 28912873 Gain Normal Illumina 300K SNP 19997636 chr5 28849334 28849586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 28866671 28867148 Gain and loss Pancreatic cancer SNP array 17952125 chr5 28900000 33800000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr5 28900000 38400000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 chr5 28900000 42500000 Amplification Breast cancer Array CGH 19553991 chr5 28900000 42500000 Amplification Lung cancer Array CGH 19553991 chr5 28900000 42500000 Amplification Melanoma Array CGH 19553991 chr5 28900000 42500000 Amplification Non-small cell lung cancer SYBR Green technique in a Mx3000P QPCR System 17156491 chr5 28900000 42500000 Amplification Ovarian cancer Array CGH 19553991 chr5 28900000 42500000 Amplification Prostate cancer Array CGH 19553991 chr5 28900000 46100000 Gain Breast cancer Microarray-based CGH 17133270 chr5 28911189 28912446 Gain and loss Pancreatic cancer SNP array 17952125 chr5 28926446 28929941 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 28939331 28939431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28941771 28941820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 28961464 28963453 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 28961464 28963453 Gain and loss Pancreatic cancer SNP array 17952125 chr5 28963356 28968756 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 28971964 29184630 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 29027264 29027339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 29038932 29039255 Gain and loss Pancreatic cancer SNP array 17952125 chr5 29076403 29088439 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 29083536 29107820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 29087017 29109943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 29088695 29115576 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 29097870 29102737 Gain Normal aCGH 21627829 chr5 29103452 29113080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 29104068 29113981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 29105071 29584366 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 29106339 29106474 Gain and loss Pancreatic cancer SNP array 17952125 chr5 29106388 29106474 Gain and loss Pancreatic cancer SNP array 17952125 chr5 29133634 29133734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 29236124 29236213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 29244547 29244647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 2926820 2927967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 29289115 29289199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 29300000 34400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 29300000 34400000 Copy number Schizophrenia from references 18923514 chr5 29300000 34400000 Deletion Schizophrenia high-density microarrays 22241247 chr5 29300000 34400000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 2930732 2930831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 29382473 29382523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 2948501 2951000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 2951001 3271000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 29565955 29575825 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 29569086 29569210 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 29610532 29927772 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 29661075 29670917 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 29687884 29687984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 29691322 29780415 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr5 29707646 31173994 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 29738329 29738388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 29739447 30827927 LOH Normal High-resolution SNP genotyping 21211785 chr5 297970 638506 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 29806886 31559354 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 29866161 29866261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 29904753 29904842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 29984692 29984947 Gain and loss Pancreatic cancer SNP array 17952125 chr5 29984692 29984995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 29984692 29985016 Gain and loss Pancreatic cancer SNP array 17952125 chr5 30188494 30188594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 30223148 30223180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3022751 3022851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 30285960 30286060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 30416307 30416407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 30473502 30479459 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 30513978 30550540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 30523514 30525530 Gain and loss Pancreatic cancer SNP array 17952125 chr5 3054322 3054429 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 30553985 30554068 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 30644264 31588495 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 30644264 31588495 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 30660347 30660416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 30665403 30665832 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 3068549 3068630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 30730765 30730854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 30839868 31440556 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 30903628 30904628 Gain Renal cell carcinoma References 21215367 chr5 3092355 3092435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 30951277 30951814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 31024689 31024789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3109852 3109952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 311446 311552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 31173994 34247685 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 31229553 31360994 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 31229553 31360994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 31229553 31360994 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31229553 31360994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 31238328 31238416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3131652 3131750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 31332034 31505885 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 313996 2525620 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 31400000 109600000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr5 31400000 115200000 Loss Breast cancer Conventional CGH 17393978 chr5 31400000 91900000 Amplification Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr5 31400000 91900000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr5 31400000 91900000 Loss Ovarian cancer Affymetrix 20844748 chr5 31434848 31435848 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 31435540 31437018 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 31436358 31568039 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 31436366 31564970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 31436366 31564970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 31436926 31564970 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 31436926 31564970 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31442451 34097007 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 31462311 31493745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 31498532 31590043 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 31498532 31590043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 31541548 31541650 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31541548 31541652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 31553421 31553521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 31568129 31590922 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 31568151 31590671 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31588652 32776979 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 31631429 31631533 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31631429 31631533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 31631430 31631533 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31675274 32146795 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31692650 31692750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 31713182 31713503 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 31717644 31717744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 31798818 31798873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 31834788 32146794 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 31834788 32146794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 31834788 32146794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 31843275 31843375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 31856428 31856497 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31860443 31860546 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31860443 31860546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 31868303 31868376 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31868303 31868376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 31914995 31915078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 31926543 31930624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 31944224 31945049 Gain and loss Pancreatic cancer SNP array 17952125 chr5 31944224 31945049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 3194447 3194543 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 32009495 32009595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32047775 32239257 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 32059934 32081528 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 32065395 32356401 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr5 32075001 32077000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 3208220 6211660 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 32090031 32090075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32098707 32098766 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr5 32121062 32121556 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 3212262 3212377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 32137076 32207376 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 32137157 32205304 Copy number Type 2 diabetes ILLumia HumanHap319 BeadChip 21526130 chr5 32138488 32194212 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 32142588 32203365 Gain Normal 244K array 17666407 chr5 32142837 32142841 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 32142841 32151168 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 32145334 32194200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 32151168 32173618 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 32158353 32194200 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 32160581 32210182 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 32160581 32210182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 32160581 32210182 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32160581 32210182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32170601 32170695 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32170601 32170697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32170602 32170693 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32173618 32192753 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 32184855 32185484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32184951 32185160 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 32184951 32185160 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32192753 32194212 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 32194212 32208250 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 32197870 32197968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32208250 32215645 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 32230789 32230889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32245527 32274514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 32245527 32274514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32257795 32258210 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32258088 32258210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32262868 32348871 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 32262868 32348871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 32262868 32348871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32262869 32348832 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32265818 32388896 Copy number Lung cancer paired-end sequencing 18438408 chr5 32270629 32270738 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32270629 32270738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32270630 32270738 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32281118 32774401 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 32281581 32282581 Loss Renal cell carcinoma References 21215367 chr5 32345525 32345631 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32345525 32345631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32390214 32480601 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 32390214 32480601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 32390214 32480601 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32390214 32480601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32404121 34074828 Copy number Lung cancer paired-end sequencing 18438408 chr5 32415258 32415338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32420305 32420405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 324288 1706039 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 32430241 32430338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32431259 34898977 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 3245848 3573064 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 324735 368089 Alteration Gastric cancer immunohistochemistry 22161137 chr5 324735 368089 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 324736 491392 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 324736 491392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 324736 491392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 324739 488225 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32512424 32512524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32543182 32577300 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 32587324 35263116 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 32621429 32637819 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32621433 32637820 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 32621434 32637819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 32621434 32637819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32621445 32639942 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 32662730 32662830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3271001 3274000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 32713955 32714040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 327309 1501683 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 3274001 3643500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 32741199 32741243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32746001 32750000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 32747422 32823009 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 32747422 32823009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 32747422 32823009 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32747422 32823009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32750418 45758751 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 chr5 32752480 32752575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3277549 3277581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32802579 35452164 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 32805201 32820805 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 32820805 34112372 LOH Normal High-resolution SNP genotyping 21211785 chr5 32824702 32827576 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 32824702 32827576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 32824702 32827576 Gain and loss Pancreatic cancer SNP array 17952125 chr5 32824702 32827576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 32846548 34001179 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 32864562 32864662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32896656 32898559 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 3293508 3293588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 32968069 32971407 Copy number Lung cancer - 20668451 chr5 32968069 32971407 Gain or loss Breast cancer - 20668451 chr5 32968069 32971407 Gain or loss Cancer - 20668451 chr5 32968069 32971407 Gain or loss Lung cancer - 20668451 chr5 32968069 32971407 Gain or loss Ovarian cancer - 20668451 chr5 32968069 32971407 Gain or loss Pancreas cancer - 20668451 chr5 32968069 32971407 Gain or loss Prostate cancer - 20668451 chr5 32972663 32973663 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 32973331 32974331 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 33031637 33031737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33147623 33148424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 33172890 33181133 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 33198040 33198722 Gain and loss Pancreatic cancer SNP array 17952125 chr5 33198042 33198670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 33234801 33238800 Deletion Glioma mate-paired sequence 20126413 chr5 33236617 33236928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 33303052 33303135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33313724 33313816 Gain and loss Pancreatic cancer SNP array 17952125 chr5 33313724 33313816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 33334643 33334721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33365616 33365670 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 33391321 33391651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 33476654 33503953 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 33476655 33503953 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 33476655 33503953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 33476655 33503953 Gain and loss Pancreatic cancer SNP array 17952125 chr5 33476655 33503953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 33514517 33514583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 33563043 33928054 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 33563043 33928054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 33563043 33928054 Gain and loss Pancreatic cancer SNP array 17952125 chr5 33563043 33928054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 33577905 33816199 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 33580966 33581066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33610224 33669091 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 33659148 33689992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 33659 2002710 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 33664398 33685749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 33680869 33680969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33724220 33724286 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 33797382 33797536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33797541 33797753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33797544 33797642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33800000 38400000 Gain Acute lymphoblastic leukemia Array CGH 17640729 chr5 33800000 48400000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 chr5 338001 340000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 33823671 33823771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33829514 33853796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 33836786 33836886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33838286 33838380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33859998 33887847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 33872365 33872476 Gain Normal 244K array 17666407 chr5 33888558 33888681 Gain Normal 244K array 17666407 chr5 33923918 33924024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 33923922 33924024 Gain and loss Pancreatic cancer SNP array 17952125 chr5 33923924 33924023 Gain and loss Pancreatic cancer SNP array 17952125 chr5 3393871 3393944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33944642 33957030 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 33972246 33974099 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 33972246 33974099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 33972246 33974099 Gain and loss Pancreatic cancer SNP array 17952125 chr5 33972246 33974099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 33975214 33975299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 33980481 34020537 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 33980481 34020537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 33980481 34020537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 33980487 34020506 Gain and loss Pancreatic cancer SNP array 17952125 chr5 33981730 34020537 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr5 33992948 33993116 Loss Normal 244K array 17666407 chr5 34000000 39100000 Amplification Lung cancer Array-based CGH 19153074 chr5 340001 405750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 34021603 34024552 Loss Normal 244K array 17666407 chr5 34023036 34043963 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34023069 34160396 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34023069 34160396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 34023069 34160396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34023656 34043963 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 34025329 34030505 Loss or gain Normal 244K array 17666407 chr5 34053770 34079093 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34074129 34074302 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34074129 34074302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34088986 34422378 Copy number Lung cancer paired-end sequencing 18438408 chr5 34105911 34506555 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 34134806 34405626 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 34134806 34405626 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 34198079 34215096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34207098 34219701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34209480 34215386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34209763 34405626 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 34209763 34405626 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 34209792 34371611 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 34209792 34371611 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 34210910 34232139 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34210910 34232139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34211351 34217943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34211685 34211822 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34214323 34296266 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 34214482 34231190 Gain Normal TaqMan assays 20972442 chr5 34214831 34254205 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34214831 34254205 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34214831 34254205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34215382 34232182 Gain Non-syndromic sensorineural hearing loss BAC end sequencing 19587683 chr5 34217277 34218567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34217405 34218754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34220223 34240676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34220745 34221821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34221422 34240073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34223138 34225297 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34224968 34227108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34225045 34238244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34225153 34242262 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34225895 34228810 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34225895 34228810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34226014 34226756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34226018 34230386 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34227992 34229544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34230160 34240345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34247685 37095784 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 34287383 34287414 Gain Normal 244K array 17666407 chr5 34338901 34345400 Deletion Glioma mate-paired sequence 20126413 chr5 34340547 34343661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 34359209 34419657 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 34362254 34396968 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34377110 34382850 Gain Normal 244K array 17666407 chr5 34400000 38500000 Copy number Cornelia de Lange syndrome high-resolution SNP arrays 21085971 chr5 34400000 38500000 Deletion Autism - 21701786 chr5 34400000 38500000 Gain Cervical cancer Array CGH and SNP array 16585170 chr5 34400000 38500000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 34400000 38500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 34400000 42400000 Amplification Ovarian clear cell carcinoma FISH 19293255 chr5 34407621 34408621 Gain Renal cell carcinoma References 21215367 chr5 34413870 34413970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 34419657 43618076 LOH Normal High-resolution SNP genotyping 21211785 chr5 34455558 45569564 Copy number Lung cancer paired-end sequencing 18438408 chr5 34507367 34507467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 34513011 36387639 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 34539109 35066068 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 34562016 34562163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34592797 34592897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3466240 3466325 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 34691850 34720062 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34692274 34868473 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34692274 34868473 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34692274 34868474 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr5 34692275 34868473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 34692275 34868473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34718125 34718260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 34733924 34734003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 34760274 34769639 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34838141 34838244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34838142 34838230 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34838142 34838244 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34875026 34916530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 34875026 34916530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34875026 34935317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34895319 35836316 LOH Normal High-resolution SNP genotyping 21211785 chr5 34897016 34897116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 34897817 34897989 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34897817 34897989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34929543 42898147 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 34938268 34954139 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34938268 34954139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 34938268 34954139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34944053 34952631 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34951238 34961857 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34951238 34961857 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34951577 34961542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 34951577 34961542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34951752 34973073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 34965454 34994826 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 34965455 34994825 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 34965455 34994825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 34965455 34994825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 34972034 34991914 Gain and loss Pancreatic cancer SNP array 17952125 chr5 34990345 35302995 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 3500000 180857866 Copy number Cancer ICA method 16751803 chr5 35027225 35027277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 35033963 35083756 Gain and loss Pancreatic cancer SNP array 17952125 chr5 35033965 35083780 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 35033965 35083780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 35033965 35083780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 35070014 35070104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 35072104 36315493 LOH Normal High-resolution SNP genotyping 21211785 chr5 35084617 35266334 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 35084621 35266334 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 35084621 35266334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 35084621 35266334 Gain and loss Pancreatic cancer SNP array 17952125 chr5 35084621 35266334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 35086769 35086955 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 35126502 35159389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 35157668 35157768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35176319 35176419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35177464 35177564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35181622 35181675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 35224361 35224461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35226892 35227228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 35263116 37092484 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 35307724 35333303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 35415991 35450706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 35431002 37577638 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 35435361 35435461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35454541 37542089 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 35464923 35465135 Gain and loss Pancreatic cancer SNP array 17952125 chr5 35464923 35465135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 35464923 35465136 Gain and loss Pancreatic cancer SNP array 17952125 chr5 3547388 3547488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3547630 3547730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35520076 35544975 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 3552262 3552582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 35548635 35548725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3555314 3555641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 3556104 4633604 Loss or gain Non-syndromic sensorineural hearing loss array CGH 18496225 chr5 35582446 35601118 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 35594906 35594954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35649931 35650243 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 35653746 35850469 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 35653746 35850469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 35653746 35850469 Gain and loss Pancreatic cancer SNP array 17952125 chr5 35653746 35850469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 35668822 35668884 Gain and loss Pancreatic cancer SNP array 17952125 chr5 35703583 35703683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35708048 35708229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 35716088 36582479 Insert Prostate cancer array-based comparativegenomic hybridization 21147910 chr5 35728134 35728234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35749746 35749948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 3578440 4091271 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 35795457 35795557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35846027 35858052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 35855453 35855553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35868117 35868150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35878206 35878306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35878628 35878710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35879721 36875021 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 35892748 35912678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 35892748 35912678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 35892748 35912678 Gain and loss Pancreatic cancer SNP array 17952125 chr5 35892748 35912678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 35894801 35894879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 35905575 42785934 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 35920605 36469711 LOH Normal High-resolution SNP genotyping 21211785 chr5 35940157 35974638 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 35940157 35974638 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 35940157 35974638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 35940228 35974640 Gain and loss Pancreatic cancer SNP array 17952125 chr5 35942447 35969962 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 3595591 3640554 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 35971928 36000110 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 35988967 36027256 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 35988967 36027256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 35988967 36027256 Gain and loss Pancreatic cancer SNP array 17952125 chr5 35988967 36027256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 35989468 35989568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 360286 360486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 36041376 36041444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36070881 36102741 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 36070881 36102741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 36070881 36102741 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36070881 36102741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36083554 36181923 Gain Normal 244K array 17666407 chr5 361218 370178 Copy number Autism exome sequencing 22495311 chr5 36139165 36187712 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36139171 36187772 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 36139171 36187772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 36139171 36187772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36141872 36186164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 36183751 36183847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36187945 36219904 Gain or loss Breast cancer - 20668451 chr5 36187945 36219904 Gain or loss Cancer - 20668451 chr5 36187945 36219904 Gain or loss Lung cancer - 20668451 chr5 36187945 36219904 Gain or loss Ovarian cancer - 20668451 chr5 36187945 36219904 Gain or loss Pancreas cancer - 20668451 chr5 36187945 36219904 Gain or loss Prostate cancer - 20668451 chr5 36187946 36219902 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 36187946 36219902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 36187946 36219902 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36187946 36219902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36190978 36191079 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36190978 36191081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36190979 36191079 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36196595 36196695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36228451 36278001 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 36228451 36278015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 36228451 36278015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36229574 36278001 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36263356 36277657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36284862 36337761 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 36284862 36337761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 36284862 36337761 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36284862 36337761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 3629619 3840514 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 36392607 36422235 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 36393132 36393322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 36402168 36402268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36427179 36474975 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 3643501 3660000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 36442150 36443150 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 36456714 36457714 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 36479811 45435591 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 3649168 3654516 Gain and loss Pancreatic cancer SNP array 17952125 chr5 3649168 3654517 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 3649168 3654517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 3649168 3654517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36521204 36521291 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36521205 36521316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36521206 36521320 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36521786 36522058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 36538618 36571624 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 3660001 3737500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 36610887 36610987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36610896 36610976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36642213 36724193 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr5 36642446 36724191 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 36642446 36724191 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36642446 36724191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36683708 37704839 LOH Normal High-resolution SNP genotyping 21211785 chr5 36709133 36709233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36711866 36711934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36720957 36721057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36746226 36746806 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 36776396 36780029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 36808926 36809026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36848085 36848185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3690041 3698879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 3690848 3690948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 36912649 37101678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 36912649 37101678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 36912649 37101678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36921164 36922269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 36921164 36922269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 36922039 36922350 Gain and loss Pancreatic cancer SNP array 17952125 chr5 36989556 37101047 Gain and loss Pancreatic cancer SNP array 17952125 chr5 370492 1003781 Duplication Autism Array CGH 22102821 chr5 3705637 3745284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 37071769 37071863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 37092484 37911604 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 37095784 41833216 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 3711004 3711104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 37142087 37237668 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 37142087 37237668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 37142087 37237668 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37142087 37237668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37148136 37148236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 37179534 37180009 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 37214 1059603 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 37241214 37283557 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 37241214 37283557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37241217 37283557 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37245223 37248240 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37245226 37248240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37282032 37282338 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37282032 37282338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37282034 37282338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37323428 37627559 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr5 37327698 37406954 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 37327698 37406954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 37327698 37406954 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37327698 37406954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37329557 37329887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 37351395 37351445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 37362993 37363055 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37405412 37405497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 37415167 37788529 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37415169 37788529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 37415169 37788529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 37415169 37788529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 3742363 5075089 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 37473000 37510350 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 37525001 37526500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 37540094 37540284 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 37541328 38112441 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 37580776 37582899 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 37589795 43028194 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 37604905 37616554 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr5 37619377 37619439 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 37619411 37619536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 37621606 39730156 Duplication Schizophrenia PennCNV software 19197363 chr5 37655844 37655940 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37655844 37655947 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37655844 37655947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37688686 37688789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 37721925 37722348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 37736190 37736296 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37736190 37736296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37811032 37811132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 37827208 39537968 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 37848536 37875539 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 37848536 37875539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 37848536 37875539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37849694 37849948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 37851509 37875539 Copy number Non-syndromic sensorineural hearing loss multiplex ligation-dependent probe amplification 20456320 chr5 37851510 37875539 Gain and loss Pancreatic cancer SNP array 17952125 chr5 37875349 37875433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 37877986 37878019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 37911604 40723916 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 37971494 41829385 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 3797705 3842825 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 37980000 50150000 Gain Acute lymphoblastic leukemia - 21339820 chr5 37986000 50152000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 38037632 38037722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38071925 38116277 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 38177499 38832516 LOH Normal High-resolution SNP genotyping 21211785 chr5 38180803 38184645 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 38210631 38210731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38218324 38218385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 38243820 38243820 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 38243820 38243956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 38263396 38296044 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 3826652 3826752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38294290 38501338 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 38294290 38501338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 38294290 38501338 Gain and loss Pancreatic cancer SNP array 17952125 chr5 38294290 38501338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 38307553 46419092 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 38349379 38383583 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 38368483 38389984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 38400000 42500000 Copy number Hepatocellular carcinoma Quantitative real time PCR 18929564 chr5 38421771 38421803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38449757 38449857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38500000 42400000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 38500000 42400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 38500000 42400000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 38500000 45800000 Amplification Ovarian clear cell carcinoma FISH 19293255 chr5 38500000 45800000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr5 38510821 38631264 Gain or loss Breast cancer - 20668451 chr5 38510821 38631264 Gain or loss Cancer - 20668451 chr5 38510821 38631264 Gain or loss Lung cancer - 20668451 chr5 38510821 38631264 Gain or loss Ovarian cancer - 20668451 chr5 38510821 38631264 Gain or loss Pancreas cancer - 20668451 chr5 38510821 38631264 Gain or loss Prostate cancer - 20668451 chr5 38510823 38631253 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 38510823 38631253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 38510823 38631253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 38515662 38631253 Gain and loss Pancreatic cancer SNP array 17952125 chr5 38525405 38527669 Amplification or deletion Cancer Array CGH 17440070 chr5 38546764 38546821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 38553368 38553457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38591854 38591954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38623090 38623190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38665618 38665718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38670664 38670764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38683283 38683373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3869610 3869710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38785392 38785487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38799812 38799912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38846127 38934402 Gain Squamous cell cancer array-CGH 21952923 chr5 38848753 38859954 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 38848753 38859954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 38856410 38857547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 38856410 38857547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 38864799 38896333 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 388661 566921 Gain Stenocardia MACArray Karyo 31K BAC-chips 21860640 chr5 388661 566921 Gain Vasospasm MACArray Karyo 31K BAC-chips 21860640 chr5 38881884 38970159 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 38881884 38970159 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr5 38881893 38970159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 38881893 38970159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 38881893 38970159 Gain and loss Pancreatic cancer SNP array 17952125 chr5 38881893 38970159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 38902962 38903062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38903195 38903293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 38943001 38944500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 38973779 39110258 Copy number Lung cancer - 20668451 chr5 38973779 39110258 Gain or loss Breast cancer - 20668451 chr5 38973779 39110258 Gain or loss Cancer - 20668451 chr5 38973779 39110258 Gain or loss Lung cancer - 20668451 chr5 38973779 39110258 Gain or loss Ovarian cancer - 20668451 chr5 38973779 39110258 Gain or loss Pancreas cancer - 20668451 chr5 38973779 39110258 Gain or loss Prostate cancer - 20668451 chr5 38973779 39110260 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 38973779 39110260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 38973779 39110260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 38975894 39110262 Gain and loss Pancreatic cancer SNP array 17952125 chr5 38990797 38991610 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 39019637 39054067 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 39020199 39020299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39026271 39026371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39067393 39112091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 39122916 39123016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39126844 39161014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 39130957 39158451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 39141115 39143107 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 39141115 39143107 Gain and loss Pancreatic cancer SNP array 17952125 chr5 39141115 39255424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 39141115 39255424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 39141115 39255424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 39143302 39255432 Gain and loss Pancreatic cancer SNP array 17952125 chr5 39154979 39537968 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 39271255 39271355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39292973 39293237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39292980 39293078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39320763 39400412 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 39320763 39400412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 39320763 39400412 Gain and loss Pancreatic cancer SNP array 17952125 chr5 39320763 39400412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 39364847 40662666 LOH Normal High-resolution SNP genotyping 21211785 chr5 39390062 41219742 LOH Normal High-resolution SNP genotyping 21211785 chr5 39391405 39391405 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 3939588 3960654 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 39407537 39461092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 39407537 39461092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 39408503 39460703 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 39408503 39460703 Gain and loss Pancreatic cancer SNP array 17952125 chr5 39410101 39410234 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 3943896 3952373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 39547042 40322598 LOH Normal High-resolution SNP genotyping 21211785 chr5 39554018 40322598 LOH Normal High-resolution SNP genotyping 21211785 chr5 39700877 39700980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 39728089 40067067 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 39728089 41474517 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 39756228 39757401 Gain and loss Pancreatic cancer SNP array 17952125 chr5 39773692 39773769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39809652 39822081 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 39837122 39837222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39904594 39920804 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 39929259 39929359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3994966 3995198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3995044 3995163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3995181 3995390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 3995182 3995295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 39981833 40013728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 40029648 40029748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40041332 40041552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40041348 40041448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40069776 40070776 Loss Renal cell carcinoma References 21215367 chr5 4007570 4414120 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 40150771 40151088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 40252955 40253955 Loss Renal cell carcinoma References 21215367 chr5 40305417 40305577 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40305417 40305578 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40305417 40305578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40322416 41011639 LOH Normal High-resolution SNP genotyping 21211785 chr5 4034281 4047548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 40343736 42163691 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 40375293 41392206 LOH Normal High-resolution SNP genotyping 21211785 chr5 40399045 40399145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40413971 40414071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40426626 40426716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 404322 405757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 4049683 4049752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 4053020 4054020 Loss Renal cell carcinoma References 21215367 chr5 4053067 4066641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 4053468 4066641 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 4053468 4080756 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 4057146 4058146 Gain Renal cell carcinoma References 21215367 chr5 4057180 4058180 Gain Renal cell carcinoma References 21215367 chr5 405751 517500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 40584058 40584137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 40588404 40588494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40606557 40651536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 40623108 44794674 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 40630239 40630304 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 40650076 40650176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40690822 40690953 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40690822 40690953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40690822 40690955 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40694277 40694355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 40715788 40729594 Gain or loss Breast cancer - 20668451 chr5 40715788 40729594 Gain or loss Cancer - 20668451 chr5 40715788 40729594 Gain or loss Lung cancer - 20668451 chr5 40715788 40729594 Gain or loss Ovarian cancer - 20668451 chr5 40715788 40729594 Gain or loss Pancreas cancer - 20668451 chr5 40715788 40729594 Gain or loss Prostate cancer - 20668451 chr5 40715789 40729592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 40715789 40729592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 40715789 40729592 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40715789 40729592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40742741 40742841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40747439 40791829 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 40747439 40791829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 40747439 40791829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40750335 40791799 Gain and loss Pancreatic cancer SNP array 17952125 chr5 4075833 4076009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40795237 40834054 Gain or loss Breast cancer - 20668451 chr5 40795237 40834054 Gain or loss Cancer - 20668451 chr5 40795237 40834054 Gain or loss Lung cancer - 20668451 chr5 40795237 40834054 Gain or loss Ovarian cancer - 20668451 chr5 40795237 40834054 Gain or loss Pancreas cancer - 20668451 chr5 40795237 40834054 Gain or loss Prostate cancer - 20668451 chr5 40795238 40834054 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 40795238 40834054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 40795238 40834054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40795239 40834046 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40825936 40826063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40825953 40826063 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40830373 40830732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 40837990 40838990 Loss Renal cell carcinoma References 21215367 chr5 40866375 40871071 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40867187 40871144 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 40867187 40871144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 40867187 40871144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40868515 40868594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40869584 40869644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 40877043 40891211 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40877043 40895948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 40877043 40895948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 40877043 40895948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40883148 40888105 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 40883148 40888105 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 40945352 41018794 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 40945356 41018794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 40945356 41018794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 40946926 40946988 Gain and loss Pancreatic cancer SNP array 17952125 chr5 40948435 40948513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 40964433 41017432 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41007557 41007655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41024260 42962844 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 41033880 41107162 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41033880 41113219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 41033880 41113219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 41033881 41113219 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 41097793 41097982 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 4116207 12293655 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 41178093 41297297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 41178093 41297297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 41178093 41297297 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41178093 41297297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 41210807 41211133 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41210813 41211133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 41210897 41211133 Gain and loss Pancreatic cancer SNP array 17952125 chr5 4121760 4121860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41239011 41287742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 41251228 41270765 Copy number Type 2 diabetes ILLumia HumanHap320 BeadChip 21526130 chr5 41262571 41279718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 41267255 41277150 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 41277150 41280642 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 41286445 42660482 LOH Normal High-resolution SNP genotyping 21211785 chr5 41287147 41287227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41312249 42754922 LOH Normal High-resolution SNP genotyping 21211785 chr5 41313686 41313786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41342805 41546487 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 41342805 41546487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 41342805 41546487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 41342816 41546487 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41381415 41381515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41406319 41406398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 4143229 4143329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41447735 41447820 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 41454627 41454727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41455915 41461229 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 41548929 42586324 LOH Normal High-resolution SNP genotyping 21211785 chr5 41554590 42963078 LOH Normal High-resolution SNP genotyping 21211785 chr5 41558167 42163691 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 41570704 42586324 LOH Normal High-resolution SNP genotyping 21211785 chr5 41570704 42754922 LOH Normal High-resolution SNP genotyping 21211785 chr5 41576250 41576350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41579550 42660482 LOH Normal High-resolution SNP genotyping 21211785 chr5 41585284 42843484 LOH Normal High-resolution SNP genotyping 21211785 chr5 41585284 42846486 LOH Normal High-resolution SNP genotyping 21211785 chr5 41607066 41617270 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 41608479 41632026 Copy number Normal - 20703242 chr5 41621825 41623562 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41622958 41623058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41635203 41635880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 41639748 41640069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 41669385 44072766 LOH Normal High-resolution SNP genotyping 21211785 chr5 41669385 44114199 LOH Normal High-resolution SNP genotyping 21211785 chr5 41669507 41679190 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 41694617 41694717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41720645 42754922 LOH Normal High-resolution SNP genotyping 21211785 chr5 41720645 43398490 LOH Normal High-resolution SNP genotyping 21211785 chr5 41740559 41740651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41765925 41906360 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41765925 41906548 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 41765925 41906548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 41765925 41906548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 41831404 41831489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 41880279 41923110 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 41937647 41939443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 41940227 41953158 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41940227 41957494 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 41940227 41957494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 41940227 41957494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 41955148 41957495 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41961113 41977420 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 41961113 41977420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 41961113 41977420 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41961113 41977420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 41970498 41971498 Loss Renal cell carcinoma References 21215367 chr5 41971777 41972777 Loss Renal cell carcinoma References 21215367 chr5 41999727 41999828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 41999728 41999828 Gain and loss Pancreatic cancer SNP array 17952125 chr5 41999729 41999828 Gain and loss Pancreatic cancer SNP array 17952125 chr5 42003061 42003937 Gain and loss Pancreatic cancer SNP array 17952125 chr5 4201680 4202324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 42036464 42036564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42057028 42057128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42084895 42084995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42099190 46434508 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr5 42115206 42397196 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 42122297 42154972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 42127929 42131739 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 42157393 42910273 LOH Normal High-resolution SNP genotyping 21211785 chr5 42193355 42237786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 42199801 42205600 Deletion Glioma mate-paired sequence 20126413 chr5 42201685 42203526 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 42335029 42335112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42397196 44089136 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 42400000 45800000 Amplification Intellectual disability 100k SNP Array 21811512 chr5 42400000 45800000 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 42400000 45800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 42400000 45800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 42400000 45800000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 42400000 45800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 42400000 45800000 Loss Glioblastoma multiforme aCGH 21080181 chr5 42400000 47700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 42400000 47700000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 42400000 97300000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr5 42405670 42874313 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 42423586 42423686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42433035 42433185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42443572 42443661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42459782 42757683 Gain or loss Breast cancer - 20668451 chr5 42459782 42757683 Gain or loss Cancer - 20668451 chr5 42459782 42757683 Gain or loss Lung cancer - 20668451 chr5 42459782 42757683 Gain or loss Ovarian cancer - 20668451 chr5 42459782 42757683 Gain or loss Pancreas cancer - 20668451 chr5 42459782 42757683 Gain or loss Prostate cancer - 20668451 chr5 42459783 42757682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 42459783 42757682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 42459783 42757682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 42459783 42762088 Gain and loss Pancreatic cancer SNP array 17952125 chr5 42500000 46100000 Gain and amplification Multiple myeloma Array CGH 16616336 chr5 42500000 46100000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr5 42502749 42503991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 4253813 4254813 Gain Renal cell carcinoma References 21215367 chr5 4254208 4255208 Loss Renal cell carcinoma References 21215367 chr5 42554492 42584402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 42567871 42567956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42599940 42600219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 42613316 42859556 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr5 42660482 44431038 LOH Normal High-resolution SNP genotyping 21211785 chr5 42662201 42668500 Deletion Glioma mate-paired sequence 20126413 chr5 42666284 42666506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42700000 115200000 Deletion Cancer PCR 21359685 chr5 42700000 115200000 Loss Non-small cell lung cancer dChip 21829676 chr5 42700000 115200000 Microdeletion adenomatous polyposis aCGH 22470819 chr5 42700000 143100000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr5 42700000 180857866 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr5 42733023 42733118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42761386 43419155 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 42776015 42776087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42780652 43146612 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 42781786 53426501 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-474K arrays 21546498 chr5 42791181 42791281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42792687 42837775 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 42792687 42837775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 42805773 44091291 LOH Normal High-resolution SNP genotyping 21211785 chr5 42805773 44134237 LOH Normal High-resolution SNP genotyping 21211785 chr5 42824437 42824537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 4282985 4283085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42835740 42847751 Gain and loss Pancreatic cancer SNP array 17952125 chr5 42836579 42844212 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 42836579 42844212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 42836579 42844212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 42838470 42838564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 42899663 43455768 LOH Normal High-resolution SNP genotyping 21211785 chr5 42899663 43962439 LOH Normal High-resolution SNP genotyping 21211785 chr5 42899663 44431038 LOH Normal High-resolution SNP genotyping 21211785 chr5 42982000 44452000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr5 42987292 42990871 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 4300347 9404366 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 43009307 43041927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 43037358 43096689 Loss Autism qPCR, Illumina1M 20531469 chr5 43038275 43038375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43050282 43054583 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43050282 43054583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43050282 43054583 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43050282 43054583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43052709 44262373 LOH Normal High-resolution SNP genotyping 21211785 chr5 43052709 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 43069972 43739842 LOH Normal High-resolution SNP genotyping 21211785 chr5 43075258 43079029 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43075258 43079029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43075258 43079029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43075324 43075905 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43077952 43081249 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43077952 43081249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43077952 43081249 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43077952 43081249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43082373 43082473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43102438 43102800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43102438 43102800 Gain and loss Pancreatic cancer SNP array 17952125 chr5 4311604 4311701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43157399 43211578 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43157399 43211578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43157399 43211578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43158570 44431038 LOH Normal High-resolution SNP genotyping 21211785 chr5 43162046 43164141 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43197181 43211578 Gain and loss Pancreatic cancer SNP array 17952125 chr5 4321660 4321760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43227501 43229000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 43228084 43316708 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43228084 43316708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43228084 43316708 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43228084 43316708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43229915 43448229 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43232079 44102138 LOH Normal High-resolution SNP genotyping 21211785 chr5 43272840 44095607 LOH Normal High-resolution SNP genotyping 21211785 chr5 43290354 43290796 Loss Normal 244K array 17666407 chr5 43290527 44098772 LOH Normal High-resolution SNP genotyping 21211785 chr5 43325250 43349352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43325250 43349352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43325255 43349241 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43326613 43349250 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43357930 43358030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43384188 43384531 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43384188 43384531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43407443 44431038 LOH Normal High-resolution SNP genotyping 21211785 chr5 43412504 43448245 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 43417357 43448245 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43417357 43448245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43417357 43448245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43425377 46440100 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 43428477 46440100 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 43442017 44431038 LOH Normal High-resolution SNP genotyping 21211785 chr5 43480112 43519695 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43480112 43519718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43480112 43519718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43480512 43519695 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43522566 43550944 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 43522567 43550944 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43522567 43550944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43522567 43550944 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43522567 43550944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43532164 43532251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43543767 43543858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43552238 43552306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 4355889 4355974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43559398 43559453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 43562126 43593244 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 43562129 43593244 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43562129 43593244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43562129 43593244 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43562129 43593244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43563532 46430452 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 43577563 43623656 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 435847 435939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 43593722 43623918 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43622789 43624082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43631221 43631321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43638582 43741346 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 43638582 43741346 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43638582 43743264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43638582 43743264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43657021 45996912 LOH Normal High-resolution SNP genotyping 21211785 chr5 43662696 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 43701524 43860178 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 43702624 43703091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 43702624 43703091 Gain and loss Pancreatic cancer SNP array 17952125 chr5 43702624 43703091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 43712187 43712287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 4379384 4379484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43853128 43853228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43866551 43866619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 43988038 109395234837 Copy number Normal - 22034057 chr5 4400000 45800000 Gain Breast cancer Array CGH 16608533 chr5 4400000 6000000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 44102483 44102590 Gain and loss Pancreatic cancer SNP array 17952125 chr5 44102483 44102590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 44161280 44161469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 44198299 44198428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 44264182 44516774 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 44264182 44516774 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 44320923 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 44338589 44428186 Gain Stenocardia MACArray Karyo 29K BAC-chips 21860640 chr5 44338589 44428186 Gain Vasospasm MACArray Karyo 29K BAC-chips 21860640 chr5 44340831 44424623 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 44340831 44424623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 44340831 44424623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 44340853 44424541 Copy number Lung cancer - 20668451 chr5 44340853 44424541 Gain or loss Breast cancer - 20668451 chr5 44340853 44424541 Gain or loss Cancer - 20668451 chr5 44340853 44424541 Gain or loss Lung cancer - 20668451 chr5 44340853 44424541 Gain or loss Ovarian cancer - 20668451 chr5 44340853 44424541 Gain or loss Pancreas cancer - 20668451 chr5 44340853 44424541 Gain or loss Prostate cancer - 20668451 chr5 44340854 44424541 Gain and loss Pancreatic cancer SNP array 17952125 chr5 44343102 44387769 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 44367746 44367846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 44387421 44399741 Loss Myeloproliferative neoplasm Agilent HD-CGH Microarrays 20421268 chr5 44424953 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 44431038 44459924 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 44459924 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 44507526 44507626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 44549983 44553646 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 4456815 4457066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 44587894 45463050 LOH Normal High-resolution SNP genotyping 21211785 chr5 44587894 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 446214 446314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 44622979 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 44655631 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 44711645 44711735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 44752049 44752344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 44752050 44752344 Gain and loss Pancreatic cancer SNP array 17952125 chr5 44752050 44752346 Gain and loss Pancreatic cancer SNP array 17952125 chr5 4481279 4481354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 44830751 44831327 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 44844784 44851167 Gain and loss Pancreatic cancer SNP array 17952125 chr5 44844784 44851371 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 44844784 44851371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 44844784 44851371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 4487152 4487252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 44874940 44876452 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 44932849 44932902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 44977092 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 44982444 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 4500000 23300000 Gain Anaplastic large cell lymphoma Array CGH 18179710 chr5 45040364 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 45040570 45050097 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 45040578 45050284 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 45064355 45064436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 45101262 45101362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45110261 45110361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 4512404 4512471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 4512412 4512482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 45125704 45157897 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr5 45162998 45163427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 4516638 4519623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 45203620 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 45204958 45206223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 4522740 4522840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45257844 45258039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45258069 45258284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45295125 45731977 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 45295125 45731977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 45295125 45731977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 45297730 45731977 Gain and loss Pancreatic cancer SNP array 17952125 chr5 45312870 49697231 Amplification Cancer Affymetrix 250K Sty array 20164920 chr5 45367625 45367725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45370355 45403864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 45407001 45413000 Loss Normal TaqMan assays 20972442 chr5 45421491 46440100 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 45421491 46440100 LOH Normal High-resolution SNP genotyping 21211785 chr5 45438977 45439077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45440535 50442675 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 45445104 50437136 Copy number Lung cancer paired-end sequencing 18438408 chr5 4547592 4547692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45562768 45563727 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 45584946 47952154 Copy number Lung cancer paired-end sequencing 18438408 chr5 45604513 45604588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45642611 45642674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45649117 45649217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45654782 45654861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 456846 457661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 45723997 45724097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45789691 45916139 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 45796330 45796407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45800000 47700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 4584900 4584960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45850032 46384240 Gain Normal Illumina 300K SNP 19997636 chr5 45862685 45862785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 45944001 46036000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 45996912 46440100 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 46013226 46014311 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46025150 46231639 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 46036520 46246391 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 46036812 46036844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 46037311 46037386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46045501 46123000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 46073624 46073734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 46123001 46129000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 46129001 46132000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 46132644 46425018 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 46137602 46287063 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 46179977 46181739 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46199857 46200196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46201154 46221690 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46208116 46235180 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 46210621 46425030 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46227005 46231640 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 46231628 46235180 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46231640 46235192 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 46235192 46282270 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 46235193 46425030 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 46235501 46280000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 46245044 46309247 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46245044 46364202 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 46245044 46370624 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 46245044 46370624 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 46245044 46370624 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 46245044 46418397 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 46245675 46425030 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46250539 46256026 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 46250648 46256364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46253580 46255119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46259769 46413072 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 46260653 46260727 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46269585 46293747 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr5 46280001 46306500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 46282258 46313969 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 46282258 46401186 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 46282270 46287063 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 46282270 46425030 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46282270 49494811 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46282270 49596050 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46282270 49604717 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46282328 49494811 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46287000 61236000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 46287063 46306765 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 46287064 46313968 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 46287064 46349246 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 46306410 46311603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46306501 46311000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 46306753 46309247 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 46306765 46309259 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 46306765 46309259 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 46309259 46313969 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 46311001 46349500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 46313969 46349398 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 4632150 4632438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46355001 49470500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 46376015 46435031 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr5 46379118 46379288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 46396362 46435031 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr5 464244 70285525 Copy number Spinal muscular atrophy quantitative real-time Taqman PCR 22558076 chr5 464244 70285525 Copy number Spinal muscular atrophy RT-PCR 22422766 chr5 464244 70285525 Deletion Spinal muscular atrophy real-time PCR 21762474 chr5 467285 502564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 4693399 6197799 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 47700000 180857866 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr5 47700000 180857866 Deletion Colorectal cancer - 20709793 chr5 47700000 180857866 Duplication Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 chr5 47700000 180857866 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr5 47700000 180857866 Gain Liposarcoma FISH, CGH 21253554 chr5 47700000 180857866 Gain or loss Endometrial cancer CGH 22040021 chr5 47700000 180857866 Gain Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 chr5 47700000 180857866 In Renal cell carcinoma MCG Whole Genome Array-4500 21228928 chr5 47700000 180857866 Loss Breast cancer aCGH 21264507 chr5 47700000 180857866 Loss Esophageal squamous carcinoma CGH 21637470 chr5 47700000 180857866 Loss Glioblastoma multiforme CGH 17387387 chr5 47700000 180857866 Loss Glioblastoma multiforme CGH 19960244 chr5 47700000 50500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 47857293 169314864 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr5 4832162 4832194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 48400000 180915260 Deletion Leukemia References 17361228 chr5 48400000 180915260 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 chr5 48400000 180915260 Distal deletion 5q-syndrome references 17576883 chr5 48400000 180915260 Loss Gastric cancer 5K BAC array CGH 17908304 chr5 48400000 180915260 Loss Lung cancer array CGH 16740712 chr5 48400000 180915260 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 48400000 76900000 Amplification Hepatocellular carcinoma Array CGH 16750200 chr5 4929716 4929805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 4937196 4972123 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 49442477 49485287 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 49442477 50200044 LOH Normal High-resolution SNP genotyping 21211785 chr5 49442477 50348016 LOH Normal High-resolution SNP genotyping 21211785 chr5 49442477 50360119 LOH Normal High-resolution SNP genotyping 21211785 chr5 49442477 50373858 LOH Normal High-resolution SNP genotyping 21211785 chr5 49442477 50534609 LOH Normal High-resolution SNP genotyping 21211785 chr5 49442477 50653813 LOH Normal High-resolution SNP genotyping 21211785 chr5 49442477 51033593 LOH Normal High-resolution SNP genotyping 21211785 chr5 49442477 51464336 LOH Normal High-resolution SNP genotyping 21211785 chr5 49442477 63148724 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 49442477 63148724 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 49444085 49501174 Gain or loss Breast cancer - 20668451 chr5 49444085 49501174 Gain or loss Cancer - 20668451 chr5 49444085 49501174 Gain or loss Lung cancer - 20668451 chr5 49444085 49501174 Gain or loss Ovarian cancer - 20668451 chr5 49444085 49501174 Gain or loss Pancreas cancer - 20668451 chr5 49444085 49501174 Gain or loss Prostate cancer - 20668451 chr5 49470501 49477500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 49477501 49588500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 49492748 55570114 Copy number Lung cancer paired-end sequencing 18438408 chr5 4949936 11421891 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr5 495578 495937 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 495578 495937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 495578 496210 Gain and loss Pancreatic cancer SNP array 17952125 chr5 49595677 180644869 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr5 49596616 120374182 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 49596616 96791184 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 49597000 68776000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 496334 520407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 496334 520407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 4965703 9240476 Loss Prostate cancer Array CGH 18632612 chr5 49683746 49697254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 49722120 49756193 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 49725929 72197212 Deletion Acute myeloid leukemia Agilent human genome aCGH microarray 44K kit 21251322 chr5 49727789 49772991 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 49729000 49754356 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 49730236 49772958 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 49730236 49772958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 49730236 49772958 Gain and loss Pancreatic cancer SNP array 17952125 chr5 49730236 49772958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 49732446 56770190 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 49759749 88018996 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr5 49760000 49781194 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr5 4977026 4977126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 4978304 4978394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 49784109 50093939 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 49913691 49982918 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 499264 520407 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 499264 525052 Gain and loss Pancreatic cancer SNP array 17952125 chr5 49964709 49965192 Gain and loss Pancreatic cancer SNP array 17952125 chr5 49964721 49965198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 49982918 56192981 LOH Normal High-resolution SNP genotyping 21211785 chr5 49997489 50173933 Copy number Lung cancer - 20668451 chr5 49997489 50173933 Gain or loss Breast cancer - 20668451 chr5 49997489 50173933 Gain or loss Cancer - 20668451 chr5 49997489 50173933 Gain or loss Lung cancer - 20668451 chr5 49997489 50173933 Gain or loss Ovarian cancer - 20668451 chr5 49997489 50173933 Gain or loss Pancreas cancer - 20668451 chr5 49997489 50173933 Gain or loss Prostate cancer - 20668451 chr5 49998570 50173926 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr5 49998570 50173926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 49998570 50173926 Gain and loss Pancreatic cancer SNP array 17952125 chr5 49998570 50173926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 50000000 53000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr5 50010926 50885095 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 50024969 50029478 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 50040264 50040318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 50061478 55498487 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 50079617 50079717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 50088258 50857095 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 50094582 74360979 Loss Bladder cancer array-CGH 21909424 chr5 50107903 180611420 Gain and loss Esophageal adenocarcinoma BAC array 19417022 chr5 50107903 180611420 Loss Barrett's syndrome BAC array 19417022 chr5 50160000 50210000 Loss Acute lymphoblastic leukemia - 21339820 chr5 50200044 52116254 LOH Normal High-resolution SNP genotyping 21211785 chr5 50253001 50256000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 50265608 50986698 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 50270083 50274854 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 50270138 50275221 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 50293378 50293478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 50297899 50297999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 50336231 50336331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5033876 5237615 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 50362789 50391645 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 50373858 56017873 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 50373858 56017873 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 50386944 50387050 Gain and loss Pancreatic cancer SNP array 17952125 chr5 50386944 50387050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 50391378 50391473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 50403527 50403627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 50417644 50417744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 50447365 51436031 LOH Normal High-resolution SNP genotyping 21211785 chr5 50447715 89153835 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 50452378 170477021 Copy number Lung cancer paired-end sequencing 18438408 chr5 50499132 50499238 Gain and loss Pancreatic cancer SNP array 17952125 chr5 50499132 50499238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 50500000 127300000 Loss Glioblastoma multiforme conventional CGH 21080181 chr5 50500000 58900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 50500000 58900000 Deletion Lung cancer aCGH 21911935 chr5 50500000 58900000 Deletion Tracheal agenesis FISH, real-time quantitative PCR 20877625 chr5 50500000 58900000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr5 50500000 68400000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr5 50521362 50521462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 50600866 51209143 LOH Normal High-resolution SNP genotyping 21211785 chr5 50606829 50607304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 50606844 50607304 Gain and loss Pancreatic cancer SNP array 17952125 chr5 50653574 50653675 Gain and loss Pancreatic cancer SNP array 17952125 chr5 50653574 50653675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 50700000 104500000 Loss Gastric cancer 5K BAC array CGH 17908304 chr5 50700000 58900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 50700000 66700000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 50700000 73300000 Loss Breast cancer Microarray-based CGH 17133270 chr5 50700000 76900000 Loss Gastric cancer 5K BAC array CGH 17908304 chr5 50700000 82800000 Loss Breast cancer oligonucleotide CGH arrays 19602461 chr5 50700000 98200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 50714715 50726035 Gain and loss Pancreatic cancer SNP array 17952125 chr5 50714715 50726308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 50714715 50726308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 50739480 50776178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 50759874 50759974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 507732 662892 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 50785505 50785671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 50785574 50785674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 508036 541214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 50885095 56383900 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 50887224 50887324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5091634 5123107 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 5091634 5123107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 50929749 50932731 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 50951756 50981788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 50986698 51043107 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 510212 654256 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 51033593 51071034 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 5103964 5126763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 51197340 51235962 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 51204523 51204623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 51210000 54120000 Gain Acute lymphoblastic leukemia - 21339820 chr5 51211000 58984000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 51242065 51242165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 51316180 51316251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 513201 39107123 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr5 51347235 51347335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 51360864 51360964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 51368115 51368215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 51407576 52058470 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 51414545 51862678 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 51429952 51463544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 5146407 5163258 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 5146407 5163258 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 51465182 51467440 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 5160852 5162885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 51612863 51616064 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 51620714 51653014 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 5163258 9957306 LOH Normal High-resolution SNP genotyping 21211785 chr5 51686816 53064060 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 51703550 51703650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 51729319 52455459 LOH Normal High-resolution SNP genotyping 21211785 chr5 517501 549500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 51766334 51799549 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 51790000 53660000 Loss Acute lymphoblastic leukemia - 21339820 chr5 5179159 5179388 Gain and loss Pancreatic cancer SNP array 17952125 chr5 5179159 5179388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 5179159 5179450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 5183735 5183831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5184756 5215800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 5186216 5186316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5189167 5189246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 51893132 51893232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 51912471 51912571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5193443 5373412 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 5193443 5373412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 5193581 5372251 Gain and loss Pancreatic cancer SNP array 17952125 chr5 5200032 6197799 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 52014102 52041523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 52058470 52061476 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 52064539 52089681 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 52116417 53064060 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 52119531 52134206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 52119531 52134206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 52119531 52285241 Gain and loss Pancreatic cancer SNP array 17952125 chr5 52119893 52285241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 52119893 52285241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 52123285 52123354 Gain and loss Pancreatic cancer SNP array 17952125 chr5 52123285 52123354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 52136798 52136971 Gain and loss Pancreatic cancer SNP array 17952125 chr5 52149622 52149722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 52171012 52171112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 52221065 53419873 LOH Normal High-resolution SNP genotyping 21211785 chr5 52267529 52267861 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 52290503 52842690 LOH Normal High-resolution SNP genotyping 21211785 chr5 52320913 52426365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 52320913 52426365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 52321014 52423805 Gain and loss Pancreatic cancer SNP array 17952125 chr5 52332831 52332958 Gain and loss Pancreatic cancer SNP array 17952125 chr5 523626 526177 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 523626 526177 Gain and loss Pancreatic cancer SNP array 17952125 chr5 523626 526177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 5240835 5240924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 52427266 52441336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 52427266 52441336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 5242952 52441082 Copy number Autism exome sequencing 22495311 chr5 52429654 52441355 Gain and loss Pancreatic cancer SNP array 17952125 chr5 52434158 52434212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 52440276 52445196 Copy number Normal Birdsuite, version 1.5.2 22087296 chr5 52440276 52445196 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 52455459 52478312 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 5247155 5247255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 52494710 52495428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 52538150 52538765 Gain and loss Pancreatic cancer SNP array 17952125 chr5 52538150 52538765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 526425 577447 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 526425 577447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 526425 577447 Gain and loss Pancreatic cancer SNP array 17952125 chr5 526425 577447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 52651789 52651997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 52672117 52672217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 52755947 53499210 LOH Normal High-resolution SNP genotyping 21211785 chr5 52798590 52798663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 52812174 52817659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 52812174 52817659 Gain and loss Pancreatic cancer SNP array 17952125 chr5 52812174 52817659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 52812351 52817661 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 52838760 52838838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 52892242 53014922 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 52892242 53014922 Gain and loss Pancreatic cancer SNP array 17952125 chr5 52892242 53014922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 52931227 52976036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 53000000 66000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 chr5 53006097 53006197 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53006115 53006197 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53079356 53079456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53092982 53093127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53114285 53114361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53190753 53191988 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53190753 53191988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53202426 53202526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53208596 72217160 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 53210901 53215000 Deletion Glioma mate-paired sequence 20126413 chr5 53212686 53212990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 53215726 53215821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53216371 53642160 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 53216371 53642160 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53216371 53642160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53243607 53243710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53243613 53243710 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53243613 53243710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53254741 53924956 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 53254741 54511254 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 53256736 53256768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53283091 53283186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53305699 53305799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53342288 53342388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53379595 53379895 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53379595 53379895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53379596 53379895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53382624 53382782 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53401848 53430999 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 53443541 53765448 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 chr5 53456227 53477364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 53467427 53480255 Duplication Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 chr5 53474049 54593863 Deletion Normal oligonucleotide-based aCGH 21744490 chr5 53511245 53511315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53703689 53724522 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 53715469 53715569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 537204 537498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 537208 537561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 53724522 53725229 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 53725229 53729928 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 53771256 53771356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53787202 53787964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 53787202 53787964 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53787202 53787964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53790377 53790477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53791289 53791376 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 53825444 53825528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 53849001 53850500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 53849350 53875478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 53849350 53875478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 53849540 53851426 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53929416 53930601 Gain and loss Pancreatic cancer SNP array 17952125 chr5 53995209 53995298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54000000 67600000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr5 540025 540666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 540161 540666 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 54025275 54059413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 5404438 5404521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54061931 54062031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54117516 54117664 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 54139701 54164797 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54184431 54184533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54188858 54190055 Gain and loss Pancreatic cancer SNP array 17952125 chr5 5419349 5419413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54254086 54254186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54268246 55324645 LOH Normal High-resolution SNP genotyping 21211785 chr5 54287525 54287625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54309453 54317164 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54309915 54317167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54309915 54317167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54337553 54337789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54338847 54338947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54346776 55324645 LOH Normal High-resolution SNP genotyping 21211785 chr5 54354125 55307094 LOH Normal High-resolution SNP genotyping 21211785 chr5 54355864 54365717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54355864 54365717 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54355864 54365717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54364691 55324645 LOH Normal High-resolution SNP genotyping 21211785 chr5 54364691 55420784 LOH Normal High-resolution SNP genotyping 21211785 chr5 54372432 54372528 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54372432 54372530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54413754 54457644 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 54422509 54422609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54434230 54441809 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54434230 54441818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54434230 54441818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54444580 54504760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54444580 54504760 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54444580 54504760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54467766 54467866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54491744 54496508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54491744 54496508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54491778 54498628 Gain and loss Pancreatic cancer SNP array 17952125 chr5 5449449 5449516 Gain and loss Pancreatic cancer SNP array 17952125 chr5 5449449 5449516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 5449518 5449586 Gain and loss Pancreatic cancer SNP array 17952125 chr5 5449518 5449586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54502117 54502207 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54502117 54502207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54502231 54502327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54515149 54515630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 54516499 54516612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54516503 54516608 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54516523 54516612 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54552001 54566500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 54562584 54562755 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr5 54562740 54565265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54562740 54565265 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54562740 54565265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54587831 54639278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54587831 54639278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54587835 54639279 Gain and loss Pancreatic cancer SNP array 17952125 chr5 5459467 5471022 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 54639594 54757163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54639594 54757163 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54639594 54757163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54756260 54973626 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54756442 54866630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54756442 54866630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 5475807 5543305 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 5475807 5543337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 5475807 5543337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54763418 54779172 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 547926 548022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5482180 5533946 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 54829630 54829730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54842833 54966863 Gain Autism qPCR, Affy 6.0 20531469 chr5 54849965 54884814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 54859743 57565723 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 54861965 54970199 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 54864698 54898584 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 54865588 54865787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54865695 54865785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 54865785 54866007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 549501 571500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 54957430 55043909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 54957430 55043909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 54957435 55029579 Gain and loss Pancreatic cancer SNP array 17952125 chr5 54987583 54987900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 55000000 93500000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chr5 5500098 5817620 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 55069609 55148362 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55069627 55148519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 55069627 55148519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55093605 55127883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 5510688 5510688 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr5 55109054 55109170 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55109054 55109172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55109056 55109169 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55127263 55127340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5514281 5543323 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55170215 55171610 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55170334 55171610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55182964 55254435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 55182964 55254435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55185070 55248915 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55193970 56022507 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 55220000 56230000 Gain Breast cancer aCGH 21509527 chr5 55266680 55431094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 55266680 55431094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55272452 55307890 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55276215 55276620 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55332104 55332206 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55332104 55332206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55367206 55367306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5539748 5539848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55431264 55564943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 55431264 55564943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55431265 55564943 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55457288 55457353 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55457288 55457353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55463201 55467800 Deletion Glioma mate-paired sequence 20126413 chr5 55464964 55466103 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 55469861 55469943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55478323 55478430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55578497 55578562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55585321 67556756 Copy number Lung cancer paired-end sequencing 18438408 chr5 55591917 55592030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55591941 55592024 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55606883 55608134 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55629148 55629273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55629149 55629273 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55680487 55680586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55690265 55707766 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 55717393 55717493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 557250 688780 Gain aortic dissecting aneurysms Array-CGH 22263138 chr5 557250 688780 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr5 557250 688780 Gain Stenocardia MACArray Karyo 33K BAC-chips 21860640 chr5 557250 688780 Gain Vasospasm MACArray Karyo 33K BAC-chips 21860640 chr5 55730000 56920000 Loss Acute lymphoblastic leukemia - 21339820 chr5 55744929 55744989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55755589 55755689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55797185 55797553 Gain and loss Pancreatic cancer SNP array 17952125 chr5 55800000 115200000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 chr5 55800000 143100000 Deletion Bipolar disorder whole-organ genomic mapping strategy 18458673 chr5 55800000 180857866 Gain Thyroid cancer FISH 19087340 chr5 55801509 56370077 LOH Normal High-resolution SNP genotyping 21211785 chr5 55827314 55827414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55836219 55836656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 55885670 55885770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55888676 55888775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55901150 55935824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 55903833 174653382 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr5 55906539 55906833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 55927738 55927981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55927966 55928023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55927966 55928129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5595029 5595237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5595135 5595235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5595239 5595429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5595267 5595367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 55956272 55956331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 55972627 56914370 LOH Normal High-resolution SNP genotyping 21211785 chr5 56014064 56655969 LOH Normal High-resolution SNP genotyping 21211785 chr5 56019006 56637109 LOH Normal High-resolution SNP genotyping 21211785 chr5 56026713 56921790 LOH Normal High-resolution SNP genotyping 21211785 chr5 56029840 56029937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56036617 56036717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56037142 56770153 LOH Normal High-resolution SNP genotyping 21211785 chr5 56048896 58137258 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 56063319 56063419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56070295 56070354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56109569 56109669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56109720 56109922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56128993 56136811 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 56146656 56227735 Gain or loss Breast cancer - 20668451 chr5 56146656 56227735 Gain or loss Cancer - 20668451 chr5 56146656 56227735 Gain or loss Lung cancer - 20668451 chr5 56146656 56227735 Gain or loss Ovarian cancer - 20668451 chr5 56146656 56227735 Gain or loss Pancreas cancer - 20668451 chr5 56146656 56227735 Gain or loss Prostate cancer - 20668451 chr5 56146657 56227730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 56146657 56227730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 56147216 56225472 Gain and loss Pancreatic cancer SNP array 17952125 chr5 561584 1540913 Gain Prostate cancer Array CGH 18632612 chr5 561584 16775431 Gain Prostate cancer Array CGH 18632612 chr5 561584 43795937 Gain and loss Esophageal adenocarcinoma BAC array 19417022 chr5 561600 4351700 Gain Prostate cancer Array CGH 18632612 chr5 56192981 56195256 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 56192981 56201371 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 56201371 61534214 LOH Normal High-resolution SNP genotyping 21211785 chr5 56222832 56260638 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 5623001 5624500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 56240857 56248765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 56240857 56248765 Gain and loss Pancreatic cancer SNP array 17952125 chr5 56240857 56248765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 56242583 68756175 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-475K arrays 21546498 chr5 56246435 56246535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56251186 56292377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 56251186 56292377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 56251187 56283707 Gain and loss Pancreatic cancer SNP array 17952125 chr5 56307177 56307808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 56314371 180857866 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 56314371 180857866 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 56421934 56490704 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 56437065 56573822 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr5 56456112 56489164 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 56500692 56500793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 56500694 56500793 Gain and loss Pancreatic cancer SNP array 17952125 chr5 56505633 56595165 Gain and loss Pancreatic cancer SNP array 17952125 chr5 56505701 56594666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 56505701 56594666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 56519351 56552589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 56538556 56573043 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 565513 565612 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 56552818 56552916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 56600226 56600316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5661483 5661553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5661601 5665900 Deletion Glioma mate-paired sequence 20126413 chr5 56632699 56632799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 566620 148274871 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr5 56665137 56665237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 566930 567030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56705381 56705466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56705851 56740453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 56770190 58132334 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 56783944 56784043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56813161 56814291 Gain and loss Pancreatic cancer SNP array 17952125 chr5 56813161 56814291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 56831679 56876328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 56877320 57012988 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 56901604 56901689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56917654 56917752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 56925399 56925431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57013023 57013108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57056622 57100708 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 57114766 57295537 Deletion Breast cancer - 17634833 chr5 57114766 57295537 Gain or loss Breast cancer - 20668451 chr5 57114766 57295537 Gain or loss Cancer - 20668451 chr5 57114766 57295537 Gain or loss Lung cancer - 20668451 chr5 57114766 57295537 Gain or loss Ovarian cancer - 20668451 chr5 57114766 57295537 Gain or loss Pancreas cancer - 20668451 chr5 57114766 57295537 Gain or loss Prostate cancer - 20668451 chr5 57120642 57120718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57130858 57130958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57135859 57135934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 571501 601000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 57151967 57373345 Copy number Normal - 20680643 chr5 57223057 57786653 LOH Normal High-resolution SNP genotyping 21211785 chr5 5723397 5757538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57238500 58434479 LOH Normal High-resolution SNP genotyping 21211785 chr5 57261774 57261874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57276524 57304408 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 57292374 57392374 Gain Stenocardia MACArray Karyo 34K BAC-chips 21860640 chr5 57292374 57392374 Gain Vasospasm MACArray Karyo 34K BAC-chips 21860640 chr5 57344829 57380923 Copy number Alcoholism Illumina Human Hap666W-Quad BeadChip 21790672 chr5 57344829 57380923 Copy number Normal - 21790672 chr5 57345631 58075566 LOH Normal High-resolution SNP genotyping 21211785 chr5 57346759 57376117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57346777 57387114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57348426 57372148 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57348489 57388503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57350255 57376271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57350496 57370575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57351907 57370575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57356695 57375303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57357301 57371200 Deletion Glioma mate-paired sequence 20126413 chr5 57357344 57374113 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 57357404 57377876 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 57358081 57379527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57359234 57369534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 57359501 57369500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 57361772 57375830 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 57361784 57369290 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 57361784 57369290 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 57361784 57369290 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 57361784 57374114 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 57362025 57374114 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 57401772 57401875 Gain and loss Pancreatic cancer SNP array 17952125 chr5 57401772 57401875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 57453814 57482687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57490000 57790000 Loss Acute lymphoblastic leukemia - 21339820 chr5 57540370 57540470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57547501 57548500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 57565453 57883650 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 57565453 57883650 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 5757937 10857368 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr5 57581505 57705380 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 57643394 57643512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57689014 57725608 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57695435 57725737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57702314 57730607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57706988 57724794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57710994 57727127 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57711955 57724951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57712132 57723641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57713701 57723800 Deletion Glioma mate-paired sequence 20126413 chr5 57715750 57721858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 57743375 57743475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57754754 59053198 Deletion Cancer Affymetrix 250K Sty array 20164920 chr5 57755993 57756062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57778033 57778128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57778788 57778886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57785571 57791670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 57785571 57791670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 57785571 57791844 Gain and loss Pancreatic cancer SNP array 17952125 chr5 57791001 57792500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 57807678 57840743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57811301 57815800 Deletion Glioma mate-paired sequence 20126413 chr5 57815092 57839304 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 57825203 57828674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 57825203 57828674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 57825824 57827942 Gain and loss Pancreatic cancer SNP array 17952125 chr5 57894501 57896500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 5790975 5791075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 57914695 58183163 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 57914696 58183162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 57914696 58183162 Gain and loss Pancreatic cancer SNP array 17952125 chr5 57914696 58183162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 57958928 57959100 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 57966083 60563884 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 57985250 58029913 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 57991243 58611621 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 57991615 57995265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 57992600 57994889 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 57992601 57994890 Copy number Breast cancer Affymetrix SNP 6.2 22522925 chr5 58058374 59826742 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 58070087 58070178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5813351 5813407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58145424 58145524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58184156 58184256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58190852 58190952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58217036 58217115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58300629 59320301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 58300629 59320301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 58302468 59225206 Gain and loss Pancreatic cancer SNP array 17952125 chr5 58306241 59819647 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chr5 58325091 59022409 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 58400000 59060000 Deletion Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr5 58416114 61480938 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 58420032 58420131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58427832 58428832 Loss Renal cell carcinoma References 21215367 chr5 58436441 58569237 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr5 58447527 58681562 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr5 58489281 58521776 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 58554551 58554704 Gain and loss Pancreatic cancer SNP array 17952125 chr5 58554551 58554704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 58571441 58744184 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 58573026 58573126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58585784 58585856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58597835 58597935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58611621 62531282 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 58621820 58726008 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 58637166 58637260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58738707 58738807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58765591 58765842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 58765591 58765870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 58782286 58782386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58786369 58786937 Gain and loss Pancreatic cancer SNP array 17952125 chr5 58790782 58790882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58830514 58830614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58839182 58839282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5884002 5884071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 58880000 62250000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 chr5 58882426 58883426 Loss Renal cell carcinoma References 21215367 chr5 58900000 63000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 58900000 63000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 58900000 66700000 Copy number Neuroticism SNP array 17667963 chr5 58900000 66700000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 58918943 58919043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59020418 59020482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59035189 59035286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 59035208 59035277 Gain and loss Pancreatic cancer SNP array 17952125 chr5 59129131 59807480 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 5915963 5916063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 5921886 5956633 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 5921886 5965054 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 59236155 59236240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59311158 59311190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59325415 59325515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59362416 59407695 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 59385633 59385665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59525425 59531934 Loss Normal 244K array 17666407 chr5 59540000 59870000 Loss Acute lymphoblastic leukemia - 21339820 chr5 59559348 59605064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 59559579 59559674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59605081 60958200 LOH Normal High-resolution SNP genotyping 21211785 chr5 59605081 62037921 LOH Normal High-resolution SNP genotyping 21211785 chr5 59635631 59635735 Gain and loss Pancreatic cancer SNP array 17952125 chr5 59635631 59635735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 59635632 59635737 Gain and loss Pancreatic cancer SNP array 17952125 chr5 5964581 5964618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59677588 60022604 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 59692424 59898403 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 59698651 59733531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 59749852 59774745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 59761487 59761860 Gain and loss Pancreatic cancer SNP array 17952125 chr5 59761487 59761860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 59762322 59762696 Gain and loss Pancreatic cancer SNP array 17952125 chr5 59819515 59858001 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 59819516 59819923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 59819516 59822848 Gain and loss Pancreatic cancer SNP array 17952125 chr5 59834339 59834439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59863139 60926116 LOH Normal High-resolution SNP genotyping 21211785 chr5 5987192 5987289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 59928499 60031718 Gain and loss Pancreatic cancer SNP array 17952125 chr5 59928506 60031718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 59928506 60031718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 59959592 60092702 Insert Cancer ultra-high resolution array CGH 21272361 chr5 5997677 5998677 Loss Renal cell carcinoma References 21215367 chr5 59983538 59985019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 59985311 59987610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 60000000 71300000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr5 6000000 15100000 Amplification Ovarian clear cell carcinoma FISH 19293255 chr5 6000000 38500000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr5 6000000 38500000 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss FISH and chromosome banding 20606397 chr5 6000000 8200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 60011943 60049636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 60026977 60075567 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 60032304 70709009 Deletion Acute myeloid leukemia - 21251322 chr5 60037408 60039465 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 60037461 60039428 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 60037462 60039422 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 60072921 60097162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 60083372 60175858 Deletion Contiguous gene syndrome PCR 19525295 chr5 60083376 60119016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 60083376 60119016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60084558 60118950 Gain and loss Pancreatic cancer SNP array 17952125 chr5 601001 716500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 60107810 60140111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 60118604 60118704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60125046 60125146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60144893 60144993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60147501 60233472 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 60151158 60151258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6020515 60276662 Copy number Autism exome sequencing 22495311 chr5 60205414 60276662 Deletion Contiguous gene syndrome PCR 19525295 chr5 60205415 60276648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 60205415 60276648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60205416 60276628 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60205418 60236477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 60205418 60236477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60224783 60563884 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 60276712 60484621 Deletion Contiguous gene syndrome PCR 19525295 chr5 60276744 60484609 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60276791 60484609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 60276791 60484609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60280902 60312827 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 60280902 60312828 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 6032056 6032156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60363455 60398187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 60447295 60447519 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60489297 60494052 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60489297 60494059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 60489297 60494059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60506000 60678000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 60542285 60542473 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60594767 60594867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6060705 6094716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 60608904 60609244 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 60609244 60612617 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 60612617 60617128 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 60662001 60665500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 60682121 60682221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60706670 60707445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60706726 60707439 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60722252 60723455 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60722252 60723455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60725616 60725705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60817853 60817938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60842717 60842817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60852928 60877754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 60852928 60877754 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60852928 60877754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60874063 60874152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60876041 60876095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60888867 60888951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60897499 61197856 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 60897499 61708490 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 60902294 60902394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60915036 60915136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60938731 60938831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60939611 60939711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60945838 60945938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 60995729 60995815 Gain and loss Pancreatic cancer SNP array 17952125 chr5 60995729 60995827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 60998597 60999074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 61003284 61003384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61018466 61038108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 61018466 61038108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61018466 61038119 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61036335 62109522 LOH Normal High-resolution SNP genotyping 21211785 chr5 6109724 6332563 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr5 61112997 61113097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61222348 61232434 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 61246666 61246761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61247622 62957079 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 61250977 61285111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 61329384 61329709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 61361181 62008474 LOH Normal High-resolution SNP genotyping 21211785 chr5 61371323 61371418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61380594 61417264 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 61383714 61417264 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 61438895 61723574 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 61438895 61723574 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 61440421 61440521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61452876 61485763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 61468284 61468384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61534214 61588708 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 61534214 61588708 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 615540 615629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 615675 618583 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61588708 68875281 LOH Normal High-resolution SNP genotyping 21211785 chr5 61592430 67173064 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 61635351 61635564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61637746 61718998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61637835 61717966 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6165224 6165313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61686600 63386968 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 61709444 61709538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61720108 61735485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 61720108 61735485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61720114 61735446 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61744351 61960164 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61744351 61960165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 61744351 61960165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61774760 61774864 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61774760 61774866 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61774760 61774866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61783718 61785130 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 61824711 61824743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61843317 61846231 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 61843827 61844066 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61856875 61857110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61856964 61857064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61857114 61857311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61857965 61858065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 61865238 61865375 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61865238 61865375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61910319 61913027 Gain and loss Pancreatic cancer SNP array 17952125 chr5 61911023 61912890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61958062 62002717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 61958103 61958482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 61998898 62030919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 62002153 62002253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6204066 6204156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62106958 62108926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 62106958 62108926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 62108460 62108846 Gain and loss Pancreatic cancer SNP array 17952125 chr5 62120038 62120113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62126005 62126085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6217866 6218100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6217988 6218088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6218097 6218288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62193501 62195500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 62204298 62205006 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 6234001 6822500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 62396905 62397005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62447764 62447864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62648338 62648437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62656442 62656763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 62679558 62679650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62723193 62723462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 62734786 62734861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62740195 62740517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 62891111 62891215 Gain and loss Pancreatic cancer SNP array 17952125 chr5 62891111 62891217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 62891118 62891215 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6291035 6291135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 62990073 62990173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6300000 9800000 Amplification Hepatocellular carcinoma FISH 16785998 chr5 6300000 9800000 Amplification Ovarian cancer Affymetrix 50K XbaI SNP mapping arrays, Affymetrix U133plus2.0 arrays 19193619 chr5 63006612 63006712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63077244 63077339 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 63148724 63837680 LOH Normal High-resolution SNP genotyping 21211785 chr5 63149807 64107567 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 63179640 63179709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63200000 102800000 Deletion Merkel cell carcinoma real-time quantitative PCR 19020549 chr5 63200000 68400000 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr5 63224528 63224628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63228317 63228396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63264592 63299372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 63292034 63293302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 63292034 63293302 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63292034 63293302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 63308791 63308891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63322673 63322773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6339946 6501153 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr5 63441970 63442070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63443465 63443565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6347922 6348007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63489967 63548192 Loss Autism - 20841430 chr5 63497426 63704452 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 63497427 63701397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 63497427 63701397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 63497465 63701397 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63502209 63502309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63589600 63663105 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 63603137 63603202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63608741 63608841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 63639566 63774328 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr5 6365483 6365830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 6365483 6365830 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63669697 64107567 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 63700000 66500000 Loss Diffuse large b-cell lymphoma QMPSF assay 18287131 chr5 63726767 63726883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 63726774 63726883 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63726794 63726883 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63733475 63737849 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 63733722 63739453 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 63734100 63737112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 63744887 63807946 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 6375313 6375386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 63791369 64826284 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr5 63815842 63860951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 63837501 63839000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 63837680 130599502 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 63837680 135130587 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 63838208 63943875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 63838208 63943875 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63838208 63943875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 63871087 63871377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 63871088 63871372 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63871088 63871372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 63882044 63883279 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 63905148 63905253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 63905148 63905257 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63905155 63905251 Gain and loss Pancreatic cancer SNP array 17952125 chr5 63975056 63975156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64006513 64006918 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64022207 64049599 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64022207 64049673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64022207 64049673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64049736 64100252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64049736 64100252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64055967 64085955 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64096336 64486099 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 64100511 64350346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64100511 64350346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64100540 64350160 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64121472 64121571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64175833 64175933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64181457 64181497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6425040 6431639 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 6425040 6431639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 6425040 6431639 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6425040 6431639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64281069 64281169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64321811 64322147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 64388266 64388446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64388440 64388605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64405293 64435816 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 64410949 64411300 Loss Normal 244K array 17666407 chr5 64454952 64455055 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64454952 64455057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64455910 64488084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 64465552 64489786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64480322 64530348 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64480322 64813460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64480322 64813460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64490797 64490897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64545981 64805277 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64554266 64554356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64631593 64631693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64746936 64747799 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64746936 64747805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 6475090 9874650 Duplication Cancer CGH 22183965 chr5 6475090 9874650 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr5 64764831 65014083 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 chr5 6476626 6511880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 6477257 6477324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64849349 64894754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64849349 64894754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64849350 64886531 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64862862 64862962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64874074 65102572 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-486K arrays 21546498 chr5 64886872 64886962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 64894873 64919124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64894873 64919124 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64894873 64919124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64916674 64917731 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr5 64921268 64955943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64921268 64955943 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64921268 64955943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64930900 64930973 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64930900 64930973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64936244 64936344 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64936244 64936344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64956628 64997648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64956628 64997648 Gain and loss Pancreatic cancer SNP array 17952125 chr5 64956628 64997648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 64997520 65053697 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 64997520 65053697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65000315 65053652 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6501983 6545705 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6502088 6545705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 6502088 6545705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65027976 65046520 Deletion Attention deficit hyperactivity disorder - 22138692 chr5 65053834 65155143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 65053834 65155143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65053957 65158495 Gain and loss Pancreatic cancer SNP array 17952125 chr5 65074131 65725859 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 65074131 65725859 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 65133501 65135500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 65152769 65949877 LOH Normal High-resolution SNP genotyping 21211785 chr5 6515876 13355734 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr5 65210095 65222974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 65258140 65412093 Gain and loss Pancreatic cancer SNP array 17952125 chr5 65258158 65412606 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 65258158 65412606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65258240 65302801 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 6526135 6526233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 65300000 130400000 Copy number Squamous cell cancer aCGH 20885788 chr5 65300000 130400000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr5 65300000 130400000 Loss Hepatocellular carcinoma Array CGH 16750200 chr5 65300000 130400000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr5 65300000 159900000 Amplification Thyroid cancer FISH 19087340 chr5 65374838 65374928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 65381798 65382127 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 65388736 65414965 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 65395513 65395613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 65460640 65460832 Gain and loss Pancreatic cancer SNP array 17952125 chr5 65460640 65460832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65475841 65512468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 65475841 65512468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65475961 65512395 Gain and loss Pancreatic cancer SNP array 17952125 chr5 65479484 65479742 Loss Normal 244K array 17666407 chr5 654859 655476 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 654859 655476 Gain and loss Pancreatic cancer SNP array 17952125 chr5 65499274 65499329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 65527873 65903557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 65527873 65903557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65562714 65562816 Gain and loss Pancreatic cancer SNP array 17952125 chr5 65562714 65562816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65722719 65722814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6574837 8161398 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 6574837 8232170 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 65748600 65748700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 65759164 65759264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6577376 6577694 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 65824852 65824936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 65875918 65876495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 65903631 65904136 Gain and loss Pancreatic cancer SNP array 17952125 chr5 65903643 65904107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65927932 66501179 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 65927932 66501179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 65928240 66318070 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6597111 6630576 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 65989166 65989466 Loss Renal cell carcinoma References 21215367 chr5 66018154 66018250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66055137 66055237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66078534 128933634 Loss Prostate cancer Array CGH 18632612 chr5 66102085 66103085 Loss Renal cell carcinoma References 21215367 chr5 66114361 66114444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66190964 66191064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 661914 661963 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 66228859 68121263 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 66290454 66500689 Gain and loss Pancreatic cancer SNP array 17952125 chr5 66319046 66319118 Gain and loss Pancreatic cancer SNP array 17952125 chr5 66319046 66319118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 66329484 66382547 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 66393681 66586635 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 66404174 66404274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66406933 66407033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66419415 74667916 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 66497001 66498500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 66500000 68400000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 chr5 66500000 73300000 Loss Breast cancer aCGH 21045282 chr5 66500000 73300000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 chr5 66513872 66528368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 66513872 66528368 Gain and loss Pancreatic cancer SNP array 17952125 chr5 66513872 66528368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 6652353 6686404 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6652355 6686157 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 6652355 6686157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 6652355 6686157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 665405 706664 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 665405 706664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 665405 706664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 665461 706664 Gain and loss Pancreatic cancer SNP array 17952125 chr5 66555939 68413007 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 66564052 66564150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66579876 66579976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66597825 66597897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6662339 6662396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66657904 66658684 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr5 66670182 66670272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66673667 66673773 Gain and loss Pancreatic cancer SNP array 17952125 chr5 66673667 66673773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 66700000 68400000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 chr5 66700000 68400000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 chr5 66700000 68400000 Loss Prostate cancer Array CGH 16461572 chr5 66700000 73300000 Loss Myelodysplastic syndrome Array CGH 18663149 chr5 66700000 76900000 Amplification Spinal muscular atrophy real-time PCR assay 15981080 chr5 66700000 76900000 Copy number Spinal muscular atrophy Real-time PCR 18839960 chr5 66700000 76900000 Copy number Spinal muscular atrophy References 19716110 chr5 66700000 76900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 66700000 76900000 Deletion Spinal muscular atrophy real-time PCR assay 15981080 chr5 66700000 98200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 66722400 66722500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 66796106 66796192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 6686499 6722675 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr5 6686500 6722673 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 6686500 6722673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 6686500 6722673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 6686563 6722673 Gain and loss Pancreatic cancer SNP array 17952125 chr5 66913290 66913373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 6692137 6726770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 67060027 67060127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67064794 67064868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 67066180 67098588 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 67107459 67107513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67139683 67139783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67194668 67194768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67204002 67696704 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 67219434 67219524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67229578 67229678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67274695 67306988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 67299029 67299135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 673163 1214476 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 673163 895224 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 673163 895224 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 67333919 67359016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 67373402 67373500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67408207 67790791 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr5 6746391 6784604 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 67490802 67491477 Gain and loss Pancreatic cancer SNP array 17952125 chr5 67490802 67491477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 67529513 67533737 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 67547359 67633405 Deletion Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 67547359 67633405 Gain or loss Breast cancer - 20668451 chr5 67547359 67633405 Gain or loss Cancer - 20668451 chr5 67547359 67633405 Gain or loss Lung cancer - 20668451 chr5 67547359 67633405 Gain or loss Ovarian cancer - 20668451 chr5 67547359 67633405 Gain or loss Pancreas cancer - 20668451 chr5 67547359 67633405 Gain or loss Prostate cancer - 20668451 chr5 67550265 67558607 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 67558218 67633403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 67558218 67633403 Gain and loss Pancreatic cancer SNP array 17952125 chr5 67558218 67633403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 67570808 67656856 Copy number Lung cancer paired-end sequencing 18438408 chr5 67576187 67622283 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 67576199 67585366 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 67582219 67582319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67599001 67599100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6763506 6774067 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr5 67664770 67664870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67671836 110429218 Copy number Lung cancer paired-end sequencing 18438408 chr5 6767718 6810161 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 6767718 6810161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 6767718 6810161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 6767726 6810140 Gain and loss Pancreatic cancer SNP array 17952125 chr5 67680000 71660000 Deletion Sezary syndrome Array-based CGH 18413736 chr5 67759283 67759336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6776460 7052197 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 67845610 67845710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67871329 67903231 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 6788245 7141994 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 67895781 68121263 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 6789810 6789883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67917565 67917640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 67977645 67977745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68007754 68007853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68022931 68023020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68064791 68064882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68141689 68141782 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 6817323 6850873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 68195998 68196098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68203607 68900029 Deletion Acute myeloid leukemia - 21251322 chr5 68203627 70784638 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr5 68205542 68205672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68205545 68205658 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6822501 6824000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 68249275 68249360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68263297 68263450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 6827270 6827548 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 68302004 68302335 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68302062 68302335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68302091 68302333 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68319513 68319588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68369486 68462648 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68379857 68379957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68400000 127300000 Loss Gastric cancer 5K BAC array CGH 17908304 chr5 68400000 172800000 Loss Breast cancer Microarray-based CGH 17133270 chr5 68400000 73300000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr5 68400000 73300000 Copy number Apoptosis Real-Time PCR 19488400 chr5 68400000 73300000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr5 68400000 73300000 Copy number Spinal muscular atrophy References 17668391 chr5 68400000 73300000 Copy number Spinal muscular atrophy References 17668395 chr5 68400000 73300000 Deletion Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 chr5 68400000 73300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 68400000 73300000 Duplication Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 chr5 68400000 73300000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 chr5 68400000 73300000 Gain Colorectal cancer Roche NimbleGen, Human Whole-Genome Array CGH Analysis v1 20459617 chr5 68400000 73300000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 chr5 68400000 76400000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 chr5 68400000 76400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 68400000 76900000 Gain and amplification Multiple myeloma Array CGH 16616336 chr5 68400000 76900000 Loss Prostate cancer Array CGH 16461572 chr5 68412874 68523930 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 68425638 68461635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 68425638 68461635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68435000 78035000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr5 68439897 70361795 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr5 68492391 68492522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68498668 68509826 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr5 68498669 68509822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 68498669 68509822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68498669 68509824 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68506852 68506905 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 68507409 68507507 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68507409 68507507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68513717 68513808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 68520 124316 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 68520 217193 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 68520 222902 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 68520 456180 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 68520 89999 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 68521131 68541939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 68521131 68541939 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68521131 68541939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68532 214394 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 68539188 70529355 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr5 68549329 68577710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 68549329 68577710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68549343 68561741 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68553531 68553601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 68566471 68609004 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68566471 68609004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68612278 68664392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 68612278 68664392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68614312 68655430 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68616072 70780728 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 68644954 68645455 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68644954 68645455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 6865171 6899089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 68665460 68665930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68665490 68665930 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68683311 68701596 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68683311 68701596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68696327 68701596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68700880 68746384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 68700880 68746384 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68700880 68746384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68746699 68773646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68746699 68774651 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68746709 68773646 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 68757801 68762000 Deletion Glioma mate-paired sequence 20126413 chr5 68759792 68760242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 68759799 68760250 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 68788118 70388897 Duplication Pseudo-TORCH syndrome Affymetrix Human SNP Array 6.0 20727516 chr5 68810578 68810848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68823875 68885887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 68823875 68885887 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68823875 68885887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68825796 69042097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68862196 68862298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68864771 69741347 Loss Normal 244K array 17666407 chr5 68866437 68885439 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 68866437 68933781 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 68866437 68938698 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 68868713 70422356 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr5 68887295 70405715 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 68891809 68924334 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 68891809 68924334 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 68891825 68924334 Gain and loss Pancreatic cancer SNP array 17952125 chr5 68891830 68924107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68903038 70343313 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 chr5 68903038 70746203 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 68903050 70427009 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 68919906 69805142 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 68929968 68968579 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 chr5 68950015 70279657 Deletion Mental retardation Not tested 20877625 chr5 68960501 69101750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 68962735 68964784 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 68964790 68967712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 68971055 69010842 Gain and loss Pancreatic cancer SNP array 17952125 chr5 69006181 69062049 Gain Normal BAC array 16365383 chr5 6901234 6901575 Gain and loss Pancreatic cancer SNP array 17952125 chr5 6901291 6901575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 6901337 6901575 Gain and loss Pancreatic cancer SNP array 17952125 chr5 69101751 69808250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 69109876 69264678 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr5 69109876 69264678 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69109876 69650298 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69109876 69679055 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69109876 69679055 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69109876 70197304 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69109876 70197304 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69109876 70425468 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69109876 70425468 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69109876 70831640 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr5 69109876 70831640 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69110733 69349444 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 6921751 6922054 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chr5 69230352 69233138 Gain and loss Pancreatic cancer SNP array 17952125 chr5 69230352 69233138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69234613 69234750 Gain Normal BAC array 16365383 chr5 69239339 69301070 Gain Normal BAC array 16365383 chr5 69252309 69310192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69319374 69373991 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 69337972 70418924 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 69337972 70418924 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 69337972 70569986 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 69337972 70569986 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 69341948 70622744 Loss or gain Normal 244K array 17666407 chr5 69345349 70249769 Copy number Spinal muscular atrophy denaturing high-performance liquid chromatography 20442745 chr5 69345349 70249769 Copy number Spinal muscular atrophy QUANTITATIVE PCR 20937953 chr5 69345349 70249769 Copy number Spinal muscular atrophy Quantitative real-time TaqMan PCR 17647030 chr5 69345349 70249769 Deletion Normal SALSA MLPA KIT P021 SMA 22187232 chr5 69345349 70249769 Deletion Spinal muscular atrophy SALSA MLPA Kit P021 21227393 chr5 69353724 69429031 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 69356827 69364281 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 69356830 69374696 Gain and loss Pancreatic cancer SNP array 17952125 chr5 69356852 69374696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69369752 69429031 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 69373464 69376942 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 69381105 69409172 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 69381106 69409175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 69381106 69409175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69381269 69408154 Gain and loss Pancreatic cancer SNP array 17952125 chr5 69384983 69425084 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 chr5 69417245 69427940 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr5 69424621 69460019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 69424621 69460019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69426119 69460019 Gain and loss Pancreatic cancer SNP array 17952125 chr5 69450000 69990000 Loss Breast cancer aCGH 21509527 chr5 69470446 69590632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 69470446 69590632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69475945 70197304 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69475945 70425468 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69475945 70831640 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 69485603 70425468 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 6948868 11454028 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 69498165 69537080 Gain Normal BAC array 16365383 chr5 69616220 69653766 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 chr5 6962257 6962357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 69659709 69678715 Gain Normal BAC array 16365383 chr5 69700000 71600000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr5 69710078 70047349 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 chr5 69724106 69741583 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 chr5 69724106 69741583 Deletion Non-syndromic sensorineural hearing loss 610K 19587683 chr5 69808251 69842250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 69826551 69832484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69826681 69832484 Gain and loss Pancreatic cancer SNP array 17952125 chr5 69842535 69843804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69847835 69886906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 69847835 69886906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 69847965 69886915 Gain and loss Pancreatic cancer SNP array 17952125 chr5 69916673 69956698 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 chr5 69997497 70038832 Gain Normal BAC array 16365383 chr5 70010592 70014942 Gain Normal BAC array 16365383 chr5 70072978 70425468 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 70072978 70425468 Multiallelic Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr5 70106234 70108204 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70106234 70108204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70127358 70185264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7013331 7013431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7013898 7034972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 70229218 70301429 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 70232248 70250113 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70232270 70250113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 70232270 70250113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70234598 70425468 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 70234598 70831640 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 70249240 70289288 Gain Normal BAC array 16365383 chr5 70256524 70284595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 70256524 70284595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70256687 70283574 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70263 392087 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 70271857 70276207 Gain Normal BAC array 16365383 chr5 70285652 70325410 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 chr5 70293834 70293971 Gain Normal BAC array 16365383 chr5 70300065 70356697 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 70300066 70355956 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70300066 70356270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70308295 70308395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 70341280 70424600 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr5 7035007 7035151 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 70366707 70399238 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70366717 70399253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 70366717 70399253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70367198 70403156 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 chr5 70405174 70424776 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 70405656 70424600 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr5 70405823 70414421 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70417555 70903396 Copy number Normal Quantitative Real-Time PCR 17666543 chr5 70418924 72816814 LOH Normal High-resolution SNP genotyping 21211785 chr5 70420216 70420316 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70420216 70420316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70426301 70572367 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr5 70429750 70464265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 70471472 70529370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70533867 70621367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 70533867 70621367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70539056 70571855 Duplication Disease FISH, whole-genome shotgun sequence detection 19212409 chr5 70540340 70550610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 70622715 70698853 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr5 7070448 13467227 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 70707368 70707919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70707368 70717576 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70716000 180625000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 70737746 131109518 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-476K arrays 21546498 chr5 70787198 70899405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 70787198 70899405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70787451 70899402 Gain and loss Pancreatic cancer SNP array 17952125 chr5 707938 708004 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 70808895 70809025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 70825622 72023985 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 70889238 70889304 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 70912953 70913053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 70918910 70988981 Gain and loss Pancreatic cancer SNP array 17952125 chr5 70918910 70988981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 70928127 70928227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 70992267 71010332 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 70992267 71011132 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 7100340 7100449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7100340 7100450 Gain and loss Pancreatic cancer SNP array 17952125 chr5 71026492 71326538 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 71030164 71030253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71043404 71076309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 71050750 71052628 Gain and loss Pancreatic cancer SNP array 17952125 chr5 71050750 71052628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 71052382 72832629 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 chr5 71103789 71103889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71182496 71182698 Gain and loss Pancreatic cancer SNP array 17952125 chr5 71182496 71182698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 71182982 71183082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71187203 71187297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71188633 71188724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 711894 840786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 7119082 7119179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 712398 814113 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 7125927 7170886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 712605 814113 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 712978 746466 Gain and loss Pancreatic cancer SNP array 17952125 chr5 712978 746510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 712978 746510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7131658 7131758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71362722 71362817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 713804 834535 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 713804 878641 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 713891 746421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 71438022 71438073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71438874 71536822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 71438874 71536822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 71438937 71538609 Gain and loss Pancreatic cancer SNP array 17952125 chr5 71442188 71442273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71462296 71462369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71474221 71474321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7147823 7147973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71493733 71493831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71550991 71651840 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 71551112 71651811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 71551112 71651811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 71551112 71651822 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7155930 7186560 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 71609538 71609632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71645980 71646266 Gain and loss Pancreatic cancer SNP array 17952125 chr5 71645980 71646266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 71645982 71646271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 716501 750500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 71651956 71690936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 71651956 71690936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 71651974 71691792 Gain and loss Pancreatic cancer SNP array 17952125 chr5 71657184 72161126 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 71696082 71696156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71704646 71704731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 717109 717409 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 71740923 71740998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71774257 71838895 Gain and loss Pancreatic cancer SNP array 17952125 chr5 71774989 71839005 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 71774990 71839005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 71774990 71839005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 71792664 71793000 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 71796495 71796595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7188090 7188190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 71935078 72108737 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 719473 12081400 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 chr5 720000 1430000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 chr5 720439 870837 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 72056932 72058963 Gain Normal 244K array 17666407 chr5 720759 721839 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 72080973 72081057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 72100285 72100392 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72100285 72100394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72106334 72106429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 72148171 72248316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 72148171 72248316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72148254 72240529 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72151000 81751000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr5 721842 775384 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 721842 862794 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 721842 862794 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 72185489 72185583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 72218812 72218885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 7227247 7249380 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr5 7227247 7249380 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr5 72287655 72422104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 72287655 72422104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72287686 72422104 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72326842 72326942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 72352289 72352738 Gain and loss Pancreatic cancer SNP array 17952125 chr5 723725 894331 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 723745 775384 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 7240278 7305807 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 72431656 72431761 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72431656 72431764 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72431656 72431766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72452158 72463397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 72452158 72463397 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72452158 72463397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72500462 72534148 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 72504804 72506294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 72504804 72506294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72504827 72506724 Gain and loss Pancreatic cancer SNP array 17952125 chr5 725076 893508 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 725076 893508 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 725076 904314 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 72688280 72699190 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 72695594 72695693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7272901 7276800 Deletion Glioma mate-paired sequence 20126413 chr5 72741647 72742014 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7274929 7275248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 72768443 72813252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 72778548 72779943 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72778548 72779943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 728076 913495 Loss or gain Normal 244K array 17666407 chr5 72816814 72840334 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 728251 728474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 72830006 72837202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 72830006 72837202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72830031 72837075 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72832600 75235131 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr5 72837342 91535142 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 72840266 72840835 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72840334 79956807 LOH Normal High-resolution SNP genotyping 21211785 chr5 72840370 72841006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72878334 74157402 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 72883918 72897254 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 72883919 72897254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 72883919 72897254 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72883919 72897254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72897336 72913540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 72897336 72913540 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72897336 72913540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72907765 72907864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 72913522 72913671 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72916551 72916644 Gain and loss Pancreatic cancer SNP array 17952125 chr5 72916553 72916644 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7292335 7316606 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 729437 775384 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 729437 841048 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr5 729437 878641 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 72957738 73243284 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 72957739 73211774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 72957739 73211774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 72957739 73214073 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7306202 7333431 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 7307363 7316416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 731066 903941 Gain Normal aCGH 21627829 chr5 73113721 73113821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73134873 73135180 Gain and loss Pancreatic cancer SNP array 17952125 chr5 73134873 73135180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 73159593 73159655 Gain and loss Pancreatic cancer SNP array 17952125 chr5 732013 900681 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr5 73215339 73272768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 73215339 73272768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 73215339 73273573 Gain and loss Pancreatic cancer SNP array 17952125 chr5 73216804 73216904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73236542 73236642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73237707 153752540 Deletion Acute myeloid leukemia - 21251322 chr5 73260714 74157402 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 73296161 73586260 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-494K arrays 21546498 chr5 73300000 76400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 73300000 81300000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 chr5 7332069 7332169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73322001 73322100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73363000 75250000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 73380154 73412701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 734302 1375087 Amplification Neuroblastoma high-density single-nucleotide polymorphism genotyping microarrays 18923524 chr5 734302 862794 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 734302 871743 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 73483795 73483887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73507032 73507238 Gain and loss Pancreatic cancer SNP array 17952125 chr5 73507032 73507238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7352487 7354545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 7352487 7354545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 7352487 7354545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 73531074 73531174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 735758 801881 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 735758 850229 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 73603263 73603346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 73649567 73649863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 73649567 73649866 Gain and loss Pancreatic cancer SNP array 17952125 chr5 73649567 73649866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 73674345 73719008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 73684742 73685059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 73691331 73691481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73700457 73701457 Loss Renal cell carcinoma References 21215367 chr5 737090 771047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 73803983 73804083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73839512 73839611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 738504 862794 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 73852660 73852760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 739174 810625 Loss Normal aCGH 21627829 chr5 73923099 73923199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 73958991 73972273 Gain and loss Pancreatic cancer SNP array 17952125 chr5 73958991 73972273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74010938 74011037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74016725 74052867 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74016767 74052869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 74016767 74052869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74052790 74098798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 74052790 74098798 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74052790 74098798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74056680 74056785 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74056680 74056785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74074 74117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74091147 74091236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74098858 74108490 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 74098859 74108490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 74098859 74108490 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74098859 74108490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74109154 74198371 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 74109154 74198371 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 74109155 74198371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 74109155 74198371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74110890 74110993 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74110890 74110994 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74110890 74110994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74111215 74198371 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74160966 74161066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7416138 7416238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 741674 932707 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 74191257 74191347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74214236 74214356 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74214237 74214361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 742370 839977 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr5 74250049 74250129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7425363 7425390 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr5 74273101 74273372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 74277155 75277708 LOH Normal High-resolution SNP genotyping 21211785 chr5 74291928 75195130 LOH Normal High-resolution SNP genotyping 21211785 chr5 74321738 74322221 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74321774 74322218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74356927 74362480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74359045 74362480 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 74360257 74361618 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74364377 75289234 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 74405140 74405209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74434520 74450682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 74447535 74471282 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 74458176 74461058 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 74469516 74647470 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 74477756 74477805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74478817 74568459 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74478817 74568459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7449343 7883194 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 7449343 7883194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 7449343 7883194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7449345 7883194 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74498941 75283433 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 74516469 74551695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 7461173 7520651 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 7461173 7520651 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 74658955 75263899 LOH Normal High-resolution SNP genotyping 21211785 chr5 74658955 75282707 LOH Normal High-resolution SNP genotyping 21211785 chr5 74668813 74693681 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74668855 74693681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 74668855 74693681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7467146 7523781 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 74702684 74843719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 74702684 74843719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74705736 74843719 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74740457 75136526 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 747608 859382 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 747608 931732 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 74766678 77235911 Loss Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 chr5 74779604 74779704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74843337 74930889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 74843337 74930889 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74843337 74930889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74870179 74870240 Gain and loss Pancreatic cancer SNP array 17952125 chr5 74874534 74906777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 74901471 74901571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74902624 74902758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74945528 74945603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74948395 75002621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 74948395 75002621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 74949229 74949299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 74949452 75016150 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr5 74949452 75222505 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr5 74973480 75011100 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 74984711 75002621 Gain and loss Pancreatic cancer SNP array 17952125 chr5 750000 1620000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr5 75005705 75048989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 75005705 75048989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75005789 75049062 Gain and loss Pancreatic cancer SNP array 17952125 chr5 75041076 75041180 Gain and loss Pancreatic cancer SNP array 17952125 chr5 75041076 75041180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75048016 75048116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75063929 75065778 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 75074082 75074182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75085277 75085377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75118050 75118358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 751371 770379 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 751371 862806 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 751371 878653 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 75145861 75175990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 75149 2038701 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 chr5 75149 3457358 Loss or gain Non-syndromic sensorineural hearing loss array CGH 18496225 chr5 75149 4092634 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr5 75162833 75164167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75178 46136094 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr5 75178 942987 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr5 752190 815465 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr5 752374 869131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 75295351 75295451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75375958 75376058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75396682 75409719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 75415060 75657172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 75415060 75657172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75417559 75711901 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 75417559 82260305 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 75423292 75423378 Gain and loss Pancreatic cancer SNP array 17952125 chr5 75423292 75423378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75448910 75449003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75471420 75471537 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 75501666 75505935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 75501666 75505935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75501674 75505912 Gain and loss Pancreatic cancer SNP array 17952125 chr5 75513855 75513955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75526659 75661645 Gain and loss Pancreatic cancer SNP array 17952125 chr5 75539652 75539752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75583352 75583394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75606249 75606334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75613182 75896962 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 75624349 75624449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75700201 75700301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75700476 75700576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75708256 75708723 Gain and loss Pancreatic cancer SNP array 17952125 chr5 75708256 75708723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75720343 75754094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 75729330 75729411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7573361 7573461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75734628 75734972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75734905 76039711 Gain and loss Pancreatic cancer SNP array 17952125 chr5 75734905 76039713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 75734905 76039713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 757931 758031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75858905 75860005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 75874494 75874702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 75947064 75954996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 75947064 75954996 Gain and loss Pancreatic cancer SNP array 17952125 chr5 75947064 75954996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 75969151 75969251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76040620 76877760 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76047542 76067054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76047542 76067054 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76047542 76067054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7607806 156526018 Duplication Intellectual disability Array CGH 22102821 chr5 76098008 76098088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76115677 76115778 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76115677 76115778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76150610 76166895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76150610 76166895 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76150610 76166895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76168482 76168776 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76168483 76168776 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76168483 76168776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76181582 76252811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76181582 76252811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76206882 76252607 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76245057 76259881 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 762626 891784 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 762792 892419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 76279496 76279565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76284436 76301054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76284436 76301054 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76284436 76301054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76305917 76306017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76340069 76340169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 763472 904101 Gain and loss Pancreatic cancer SNP array 17952125 chr5 763494 826103 Gain Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 chr5 763495 848743 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr5 76361987 76396793 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 76361988 76396789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76361988 76396789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76361988 76396791 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76369604 76369704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 763944 848744 Duplication Rett syndrome References 21593744 chr5 76400000 81300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 76400000 81300000 Deletion craniofacial dysmorphism array comparative genomic hybridization 21918468 chr5 76400000 81300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 76408288 76418786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76408288 76418786 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76408288 76418786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76417020 76450163 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 76429854 76429954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76446280 76446380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76461193 76481295 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 76469548 76469657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76476447 76476537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76515596 76515671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76524054 76763795 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 76542461 76758984 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 76542462 76758982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76542462 76758982 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76542462 76758982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76626806 76626949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76636940 76637040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76659735 76659814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76675894 76675994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76703709 76703809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76716075 76716150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76716204 76716257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76718752 76751039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 76740837 76857474 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 76763372 76763886 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 76763826 76824088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76763826 76824088 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76763826 76824088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7681329 7715714 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 76836011 180616147 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr5 76877467 76877851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76900000 102800000 Loss Testicular cancer CGH, Comparative expressed sequence hybridisation 18059402 chr5 76900000 109600000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr5 76900000 109600000 Loss Prostate cancer Array CGH 16573809 chr5 76900000 111500000 Loss Prostate cancer Array CGH 16573809 chr5 76900000 81400000 Deletion Lung cancer Relied on a multipoint score function 16773561 chr5 76900000 81400000 Gain and amplification Multiple myeloma Array CGH 16616336 chr5 76913957 76914703 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76935944 76936032 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76935944 76936032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 76937364 76937414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 76960294 76970278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 76960294 76970278 Gain and loss Pancreatic cancer SNP array 17952125 chr5 76960294 76970278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 769617 897746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 77006520 77006620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77022751 77107941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 77022751 77107941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 77022829 77107926 Gain and loss Pancreatic cancer SNP array 17952125 chr5 770367 814113 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 770367 826556 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 770367 862794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 770367 871743 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 770367 875123 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 770367 877436 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 770367 878641 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 770367 878641 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 770379 775205 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 770379 878653 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 77039051 77076628 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 chr5 770561 841060 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 770561 870850 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 770561 873036 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 77065115 77065215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7708014 7708092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77084102 77084437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 770897 878641 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 77092327 77092427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77096301 77100200 Deletion Glioma mate-paired sequence 20126413 chr5 77098065 77098374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 771021 815465 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr5 77116455 77117588 Gain and loss Pancreatic cancer SNP array 17952125 chr5 77116467 77117595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 77131230 77131380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77134093 77473047 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 77140975 77141304 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 77144761 77147045 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 77151871 77151961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7717867 7717967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77225362 77225462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77287071 77287109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77300912 77301012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 773230 773439 Gain and loss Pancreatic cancer SNP array 17952125 chr5 77333907 77626284 Gain and loss Pancreatic cancer SNP array 17952125 chr5 77333909 77626284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 77333909 77626284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 77388204 77388326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 77504403 77504503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 775193 877054 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 775205 786612 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 77603951 77604051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77609923 77610212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 77646496 77646605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 77646500 77646605 Gain and loss Pancreatic cancer SNP array 17952125 chr5 77646501 77646605 Gain and loss Pancreatic cancer SNP array 17952125 chr5 77648616 77648715 Gain and loss Pancreatic cancer SNP array 17952125 chr5 77648616 77648717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 77654009 77654186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77685112 77685212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77692110 77810634 Gain and loss Pancreatic cancer SNP array 17952125 chr5 77692163 77812318 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 77692163 77812318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 77760754 77760854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77761598 77761857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 77761623 77761812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 77781402 77781495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 77816796 77980404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 77816796 77980404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 77816810 77841867 Gain and loss Pancreatic cancer SNP array 17952125 chr5 778194 878641 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 778829 893508 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 77921052 77933079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 77924201 77924314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 77929187 77929240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78071749 78071749 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 7807947 7808037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78108795 78318113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 78108795 78318113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78108799 78318113 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78124748 78124892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78137898 78138243 Loss Normal 244K array 17666407 chr5 78145556 78147626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 78145558 78147546 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 78145665 78147458 Loss Normal 244K array 17666407 chr5 78172047 78172170 Loss Normal 244K array 17666407 chr5 78181806 78181906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7820797 7820897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78253553 78253736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78253789 78253889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78296414 79222927 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 78312505 78312828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 78313483 78313801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 783146 872928 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 783146 872928 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 78329184 78401205 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 78329186 78401205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 78329186 78401205 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78329186 78401205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78331685 78332699 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78331972 78332609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7833862 7833932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 78344363 78344973 Gain and loss Pancreatic cancer SNP array 17952125 chr5 783979 878641 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 78401339 78421029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 78401339 78421029 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78401339 78421029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78426570 78426665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78443360 78463866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 78443360 78463866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78443384 78463862 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7845872 7845992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7846041 7846185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7846081 7846181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78461657 78482471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 78468289 78468351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78501813 78501914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78501814 78501913 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78501815 78501914 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78552521 78552652 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78552521 78552652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78558853 78559109 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78558853 78559109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78568095 78658794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 78568095 78658794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78581313 78614914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 78609507 78653704 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78615711 78616497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 78615711 78616497 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78615711 78616497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 786612 794695 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 786905 809253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78700401 79209387 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 78704215 78845796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 78704215 78845796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78705543 78845456 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78743720 78743820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78758938 78759038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7883494 7904603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 7883494 7904603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 7883494 7904603 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7883494 7904603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78842013 78842476 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78842013 78842476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78860878 78861672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78860881 78861666 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78866432 78866531 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78866432 78866533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 78872135 78872225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78894326 78894425 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78894327 78894410 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7889900 7895200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 7890843 7934290 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 78935505 78935569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 78944152 79017858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 78944152 79017858 Gain and loss Pancreatic cancer SNP array 17952125 chr5 78944152 79017858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7896211 7929611 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr5 79021415 79131804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 79021415 79131804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79021456 79064365 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79026891 79026991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 79049459 79049765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 79060045 80082607 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr5 79067899 79131798 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7912272 7922123 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7912273 7922122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 7912273 7922122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 7912273 7922122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7912505 8779021 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr5 79163416 79163516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7922217 7954233 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 7922217 7954233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 7922217 7954233 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7922217 7954233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79238106 79238190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 7924429 7924525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 793102 3740293 LOH Normal High-resolution SNP genotyping 21211785 chr5 79311355 79322824 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79313964 79322836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79341484 79374788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 79352084 79352184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 79359056 91730886 Deletion Acute myeloid leukemia - 21251322 chr5 79366859 79414861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 79366859 79414861 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79366859 79414861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79378057 79378186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 79387300 79432499 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 79425859 79681855 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 79430535 79430635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 79443229 79587497 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr5 79466607 79534810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 794695 814125 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 79474761 79474858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 79477671 79534628 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7948186 7980395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 79492244 79492324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 79502546 79502641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 79516376 79626563 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 79571064 79571163 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79571064 79571163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79592945 79593258 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 7960580 7961052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 79620097 79621150 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7962907 7989153 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 79631253 79631912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79631253 79632001 Gain and loss Pancreatic cancer SNP array 17952125 chr5 7963141 7963196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 79637813 79637932 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79637813 79637932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79651599 79653414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 79651599 79653414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79651791 79653083 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79663058 79664116 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79683208 79683417 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79683208 79683531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 796838 841048 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 79690652 79691615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 79690652 79691615 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79690652 79691615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79697301 79697407 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79697301 79697407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 7970047 7973554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 7970701 8009246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 79739593 79811254 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr5 79739594 79811254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 79739594 79811254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79739636 79810480 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79783047 80154721 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 79819556 79873962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 79819556 79873962 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79819556 79873962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79832217 79832422 Gain and loss Pancreatic cancer SNP array 17952125 chr5 798370 809253 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 798501 841000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 79888331 79901854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 79888331 79901854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79890050 79891594 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79922044 79950800 Amplification Renal cell carcinoma Quantitative RT-PCR 17409424 chr5 79955166 79971724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 79956807 79983757 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 79957800 79986556 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 79957804 79986290 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79981609 79984011 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 79982623 79982691 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79982623 79982691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79983363 79983622 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79983363 79984100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79983640 79983710 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79983640 79983710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79983757 82285971 LOH Normal High-resolution SNP genotyping 21211785 chr5 79986049 80208390 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr5 79986049 80208390 Copy number Lung cancer - 20668451 chr5 79986049 80208390 Gain or loss Breast cancer - 20668451 chr5 79986049 80208390 Gain or loss Cancer - 20668451 chr5 79986049 80208390 Gain or loss Lung cancer - 20668451 chr5 79986049 80208390 Gain or loss Ovarian cancer - 20668451 chr5 79986049 80208390 Gain or loss Pancreas cancer - 20668451 chr5 79986049 80208390 Gain or loss Prostate cancer - 20668451 chr5 79986050 80208387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 79986050 80208387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 79986293 79986857 Gain and loss Pancreatic cancer SNP array 17952125 chr5 79986295 80208389 Gain and loss Pancreatic cancer SNP array 17952125 chr5 80041655 80041750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80054047 80054147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80075128 80075436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 8008102 8035581 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 80089101 80089201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 8009373 8009673 Gain Renal cell carcinoma References 21215367 chr5 8009710 8010710 Gain Renal cell carcinoma References 21215367 chr5 80114337 80426046 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 801638 878490 Gain Normal aCGH 21627829 chr5 80177850 80177950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 801796 802806 Gain Normal aCGH 21627829 chr5 801881 3739717 LOH Normal High-resolution SNP genotyping 21211785 chr5 801881 3740293 LOH Normal High-resolution SNP genotyping 21211785 chr5 80213587 80372454 Microdeletion Normal paired-end-sequenced 22403181 chr5 802192 851911 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 80222958 80248000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 80245290 80246290 Gain Renal cell carcinoma References 21215367 chr5 80280669 81772324 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 80292313 80557709 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr5 80292313 80557709 Gain or loss Breast cancer - 20668451 chr5 80292313 80557709 Gain or loss Cancer - 20668451 chr5 80292313 80557709 Gain or loss Lung cancer - 20668451 chr5 80292313 80557709 Gain or loss Ovarian cancer - 20668451 chr5 80292313 80557709 Gain or loss Pancreas cancer - 20668451 chr5 80292313 80557709 Gain or loss Prostate cancer - 20668451 chr5 80292314 80557698 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 80292314 80557698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 80292314 80557709 Gain and loss Pancreatic cancer SNP array 17952125 chr5 80314905 80315005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80319952 80365979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 8033259 8033417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8033259 8033418 Gain and loss Pancreatic cancer SNP array 17952125 chr5 8033259 8033480 Gain and loss Pancreatic cancer SNP array 17952125 chr5 80337 80987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 80391984 80392042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80442048 80442273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80442262 80442467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80514754 80520628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 80528243 80562076 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 80564894 80597973 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 80564895 80597970 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 80564895 80597970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 80564914 80597972 Gain and loss Pancreatic cancer SNP array 17952125 chr5 80571506 80581097 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 80626833 80629594 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 80626833 80629594 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 80633178 80644871 Gain and loss Pancreatic cancer SNP array 17952125 chr5 80633178 80644872 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 80633178 80644872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 80661580 80725709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 80661580 80725709 Gain and loss Pancreatic cancer SNP array 17952125 chr5 80661580 80725709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 80683306 80683370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80700638 80700717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80721309 80722283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 80751427 81082828 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr5 80751427 81082828 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 80751428 81082828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 80751428 81082828 Gain and loss Pancreatic cancer SNP array 17952125 chr5 80751428 81082828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8078201 8082300 Deletion Glioma mate-paired sequence 20126413 chr5 80786899 80787227 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 80786899 80787227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 80939988 80940088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 80964103 80964202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81042101 81046000 Deletion Glioma mate-paired sequence 20126413 chr5 81043921 81044193 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 81057774 81103121 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 8111265 8112265 Gain Renal cell carcinoma References 21215367 chr5 8112776 8112876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81140954 81141054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 8116583 8116683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81171813 81171913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81218236 81218577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 81224066 81224303 Gain and loss Pancreatic cancer SNP array 17952125 chr5 81224066 81224303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 81245981 81550493 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 81300000 91900000 Loss Prostate cancer Array CGH 16573809 chr5 81303600 81586524 Gain and loss Pancreatic cancer SNP array 17952125 chr5 81303630 81586524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 81303630 81586524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 81323205 81368150 Gain and loss Pancreatic cancer SNP array 17952125 chr5 81341203 81341668 Gain and loss Pancreatic cancer SNP array 17952125 chr5 8134266 8134321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 81369998 81550493 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 81385621 81386621 Loss Renal cell carcinoma References 21215367 chr5 81386796 81387796 Gain Renal cell carcinoma References 21215367 chr5 81400000 92300000 Gain Prostate cancer Array CGH 16573809 chr5 81400000 98200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 chr5 81410002 81410297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 81410002 81410299 Gain and loss Pancreatic cancer SNP array 17952125 chr5 814125 826568 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 81525983 81526083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81536737 81536837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81587419 81587519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81601832 81605231 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 81604899 81609995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 81604899 81609995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 81607204 81610080 Gain and loss Pancreatic cancer SNP array 17952125 chr5 81611037 81649981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 81611037 81649981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 81636921 81649903 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 81641109 81658128 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 81656242 81656316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81714520 81718091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 81714520 81718091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8174634 8174734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81887362 81887455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 819257 819290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81943917 81944017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 81949 13886223 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 81949 141535648 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 81949 180629495 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 81949 26039041 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 81949 814748 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 81971433 82001757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 81992759 81992844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 8200000 15100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 8200000 15100000 Copy number Cri-du chat syndrome Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 chr5 8200000 15100000 Copy number Normal - 21701786 chr5 8200000 15100000 Gain Cervical cancer Array CGH and SNP array 16585170 chr5 8200000 15100000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 8200000 15100000 Gain Cryptorchidism oligo V6.3 21048976 chr5 8200000 15100000 Gain Disorders of sex development oligo V6.3 21048976 chr5 8200000 15100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 8200000 15100000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 chr5 8200000 15100000 Gain Non-small cell lung cancer dChip 21829676 chr5 8200000 15100000 Microdeletion Cri-du chat syndrome aCGH 22470819 chr5 8200000 15100000 Microdeletions or microduplications sporadic birth defects aCGH 19047251 chr5 8200000 18500000 Amplification Ovarian clear cell carcinoma FISH 19293255 chr5 8200000 23300000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 8200000 38500000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr5 8200000 45800000 Gain Cervical squamous cell carcinoma BAC-array CGH 21590768 chr5 82035275 82080380 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 82036602 82036683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 8208850 8208948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 82096553 82096637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 82097501 82103800 Deletion Glioma mate-paired sequence 20126413 chr5 82099183 82101909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 82192473 82192787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 82247736 82247836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 82285971 82313053 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 82292333 82292408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 82313053 85613247 LOH Normal High-resolution SNP genotyping 21211785 chr5 82372518 82625806 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 82373459 82390310 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 82373762 82390310 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 82384423 82408947 Gain and loss Pancreatic cancer SNP array 17952125 chr5 82387742 82408935 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 82387742 82408935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 82409072 82685333 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 82409072 82685335 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr5 82409073 82685333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 82409073 82685333 Gain and loss Pancreatic cancer SNP array 17952125 chr5 82409073 82685333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 82413977 82414077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 82518513 82518818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 82577755 82577855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 82591088 82592088 Gain Renal cell carcinoma References 21215367 chr5 82594065 82595065 Loss Renal cell carcinoma References 21215367 chr5 826547 878653 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 826568 834547 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 82720000 84650000 Loss Acute lymphoblastic leukemia - 21339820 chr5 82772481 82806524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 82798839 82936677 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 82798839 84670531 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 82800000 127300000 Loss Gastric cancer 5K BAC array CGH 17908304 chr5 82800000 91900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 82800000 91900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 82800000 91900000 Microdeletion Mental retardation whole genome oligonucleotide array-CGH 19592390 chr5 82800000 97300000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 chr5 82800000 97300000 Microdeletion Mental retardation SNP array(Affymetrix 100K and Illumina 550K) 1Mb Sanger array-CGH 19471318 chr5 82803339 82912737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 82803339 82912737 Gain and loss Pancreatic cancer SNP array 17952125 chr5 82803339 82912737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8284632 8368643 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 82868901 82937788 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 82941815 82942133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 82967692 82999634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 82972499 83052454 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr5 82972502 83052454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 82972502 83052454 Gain and loss Pancreatic cancer SNP array 17952125 chr5 82972502 83052454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 83035023 83035118 Gain and loss Pancreatic cancer SNP array 17952125 chr5 83035023 83035118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 83126378 84512869 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-500K arrays 21546498 chr5 83127238 83127432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 83127427 83127578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 83135129 83135259 Gain and loss Pancreatic cancer SNP array 17952125 chr5 83135129 83135260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 83135129 83135263 Gain and loss Pancreatic cancer SNP array 17952125 chr5 8314700 8314800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 8323 68561741 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr5 8323 68561741 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 83241416 83274781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 83261449 83261549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 83272175 83716367 Gain and loss Pancreatic cancer SNP array 17952125 chr5 83273881 83716367 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr5 83273882 83716367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 83273882 83716367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 83305371 83305461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 83318004 84407494 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 83424305 83424405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 83426017 83732185 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 83453607 83453706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 834547 843589 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 83528457 83528547 Gain and loss Pancreatic cancer SNP array 17952125 chr5 83528457 83528547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 83546263 83546305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 83610000 89410000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 chr5 83625009 83625762 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 83647179 83647254 Gain and loss Pancreatic cancer SNP array 17952125 chr5 83647179 83647254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 83725782 83758544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 83744986 83745086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 83834524 83840802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 83835179 83874339 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 chr5 83972501 83994012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 83973914 83974064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 83980591 83996228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 83980733 84000000 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 83982101 83992700 Deletion Glioma mate-paired sequence 20126413 chr5 83982162 83992462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 83983399 83992398 Deletion Normal TaqMan assays 20972442 chr5 83983673 83991093 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 83985102 83990457 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 83985102 83990457 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 84000000 105000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 chr5 84038311 84039311 Gain Renal cell carcinoma References 21215367 chr5 8405019 8405119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84055219 84055319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84063197 84081806 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 84093444 84093544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84108580 84163418 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 84137167 84137267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84182952 84183052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84183511 84239651 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 84203621 85241810 LOH Normal High-resolution SNP genotyping 21211785 chr5 84284722 119363277 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 84314625 84315268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 84331389 84331889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 84331389 84331898 Gain and loss Pancreatic cancer SNP array 17952125 chr5 84346850 84346935 Gain and loss Pancreatic cancer SNP array 17952125 chr5 84346850 84346935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 843504 891784 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 843504 891784 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 843589 853686 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 8437936 10318719 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 8437936 11446134 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 84444987 84471454 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 84467000 156302000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 84541626 84542446 Gain and loss Pancreatic cancer SNP array 17952125 chr5 84560699 84560799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84591856 84591946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84614006 96146211 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 84629528 84629628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84633716 85051865 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 84633716 85803745 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 84701600 84701700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84711674 84711734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84791735 84791835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84793703 84793803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84796081 84796888 Gain and loss Pancreatic cancer SNP array 17952125 chr5 84850234 84850310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 84858574 84858643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 84859618 84859708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8486255 8486355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 848722 904101 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 848722 904101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 848722 904101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 84880984 84881530 Gain and loss Pancreatic cancer SNP array 17952125 chr5 84881161 84881678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 848874 849592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 848874 849592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 848874 849592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 84929597 84929785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 84968468 91516398 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-501K arrays 21546498 chr5 84970765 84970845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 850229 872928 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 85094145 85094840 Gain and loss Pancreatic cancer SNP array 17952125 chr5 85103173 85103273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 85108748 105299015 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr5 85108748 105299015 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-489K arrays 21546498 chr5 85200824 85200924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 85286288 86169230 LOH Normal High-resolution SNP genotyping 21211785 chr5 85287333 85288108 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 85322214 85322246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 85333005 85334005 Loss Renal cell carcinoma References 21215367 chr5 85333134 85334134 Loss Renal cell carcinoma References 21215367 chr5 85355221 85355267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 853674 873024 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 853674 878641 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 853686 862806 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 85385784 85385905 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 85441098 85441266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 85441983 85442058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 854901 868134 Loss Normal aCGH 21627829 chr5 85509119 85509219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 85614018 85624748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 85614018 85624748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 85634242 98367831 LOH Normal High-resolution SNP genotyping 21211785 chr5 85650338 85650438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 85703846 87279094 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 85725008 85725158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 85739635 85739710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 85837489 133480433 Deletion Cancer Affymetrix 250K Sty array 20164920 chr5 85949514 85952337 Gain and loss Pancreatic cancer SNP array 17952125 chr5 85949539 85952339 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 85949540 85952337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 85949540 85952337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 85951071 156837070 Deletion Myelodysplastic syndrome - 21251322 chr5 85952079 85952141 Gain and loss Pancreatic cancer SNP array 17952125 chr5 85952079 85952141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 85994717 85994823 Gain and loss Pancreatic cancer SNP array 17952125 chr5 85994717 85994823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86085321 86086627 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86108715 86109020 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86150925 86153588 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 86151094 86153608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 86151134 86154902 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 86151134 86154902 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr5 86163392 86163511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 862048 876771 Copy number Breast cancer Affymetrix SNP 6.5 22522925 chr5 86215805 86216202 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86239570 87916328 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 86249399 86255398 Loss Normal TaqMan assays 20972442 chr5 862806 878653 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 86281759 86282893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 86281761 86282223 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 86282227 86282898 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 86292135 86292229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86300000 113400000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr5 86344888 88026805 LOH Normal High-resolution SNP genotyping 21211785 chr5 86350996 86351081 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 86372456 86372697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86372570 86372670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86372765 86372865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86377689 86387151 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 86381519 86381803 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86408452 86411474 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr5 86413021 86413109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86494807 86526793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 86497558 88281410 LOH Normal High-resolution SNP genotyping 21211785 chr5 865074 878564 Loss Normal aCGH 21627829 chr5 86525464 86525554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86540000 95190000 Loss Acute lymphoblastic leukemia - 21339820 chr5 86549512 86549925 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86549512 86549925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86599838 86723488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 86599838 86723488 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86599838 86723488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86599906 86723489 Copy number Lung cancer - 20668451 chr5 86599906 86723489 Gain or loss Breast cancer - 20668451 chr5 86599906 86723489 Gain or loss Cancer - 20668451 chr5 86599906 86723489 Gain or loss Lung cancer - 20668451 chr5 86599906 86723489 Gain or loss Ovarian cancer - 20668451 chr5 86599906 86723489 Gain or loss Pancreas cancer - 20668451 chr5 86599906 86723489 Gain or loss Prostate cancer - 20668451 chr5 86613372 86613442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86625762 86626046 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86625762 86626046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86631260 86631370 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86631260 86631370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86632974 86634231 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 86663846 86663946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 8672217 8672285 Gain and loss Pancreatic cancer SNP array 17952125 chr5 8672217 8672285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86725842 86744592 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86725844 86744592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 86725844 86744592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86726116 167200064 Deletion Acute myeloid leukemia - 21251322 chr5 8673500 8673566 Gain and loss Pancreatic cancer SNP array 17952125 chr5 8673500 8673566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8675183 8675252 Gain and loss Pancreatic cancer SNP array 17952125 chr5 8675183 8675252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86751914 86752020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86751917 86752020 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86751920 86752020 Gain and loss Pancreatic cancer SNP array 17952125 chr5 8675272 8675532 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86838006 86838080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86838770 86838847 Gain and loss Pancreatic cancer SNP array 17952125 chr5 86838770 86838847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 86839673 86839773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86880044 86880144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 86893777 86893884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 87147850 87148774 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 87149666 87149739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 871744 877053 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr5 87195352 87195435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 872671 874726 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 87285758 87285821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 87290590 87317530 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 87298547 87331478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 87304560 87304660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 87308069 87339968 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 873107 875260 Loss Normal aCGH 21627829 chr5 87333255 87334255 Loss Renal cell carcinoma References 21215367 chr5 87364417 87364563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 87399623 87399813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 87399834 87400043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 87413327 87413427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 87414637 87417820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 87442672 87540920 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 87449860 88600147 Microdeletion Late-onset gain of skills and peculiar jugular pit Affymetrix Genome-Wide Human SNP Array 6.0 20729728 chr5 87526770 87600421 Gain and loss Pancreatic cancer SNP array 17952125 chr5 87526779 87600421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 87526779 87600421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8754425 8803691 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 87550464 87550836 Gain and loss Pancreatic cancer SNP array 17952125 chr5 87550464 87550836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8755522 8800142 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 8755522 8800142 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 8755522 8800142 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 87574938 87575938 Loss Renal cell carcinoma References 21215367 chr5 8758764 8800030 Loss or gain Normal 244K array 17666407 chr5 87605831 87605949 Gain and loss Pancreatic cancer SNP array 17952125 chr5 87605831 87605949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 876820 1602135 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 87699366 89587666 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 87704173 87704344 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 87714345 87714480 Gain and loss Pancreatic cancer SNP array 17952125 chr5 87714345 87714480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8774360 8776020 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 87758221 87758321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 87770224 156712888 Deletion Acute myeloid leukemia - 21251322 chr5 878048 902921 Loss Normal aCGH 21627829 chr5 878644 896918 Gain Normal aCGH 21627829 chr5 878653 886627 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 87871801 87872801 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 87874868 87875868 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr5 87936912 87937011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 87991897 87991997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 87998427 87998513 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr5 87998427 87998513 Gain and loss Pancreatic cancer SNP array 17952125 chr5 87998427 87998513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 8802528 9057016 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 88043252 88044252 Loss Renal cell carcinoma References 21215367 chr5 88051921 88235625 Gain or loss Breast cancer - 20668451 chr5 88051921 88235625 Gain or loss Cancer - 20668451 chr5 88051921 88235625 Gain or loss Lung cancer - 20668451 chr5 88051921 88235625 Gain or loss Ovarian cancer - 20668451 chr5 88051921 88235625 Gain or loss Pancreas cancer - 20668451 chr5 88051921 88235625 Gain or loss Prostate cancer - 20668451 chr5 88051922 88214780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 88051922 88214780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 88051922 88235625 Gain and loss Pancreatic cancer SNP array 17952125 chr5 88067769 88068098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 88078895 88079222 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 88078896 88079222 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 88108171 88108224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 88120232 88120332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 88128276 88128376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 88135427 88422883 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 881480 885122 Copy number Autism exome sequencing 22495311 chr5 88161609 89251989 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr5 88259176 88817624 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 88305670 88644858 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-506K arrays 21546498 chr5 88379226 88379326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 88410446 100338915 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 88411647 88411747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 88452356 88452456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 88596204 88596304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 88616341 88616441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 88640601 88644400 Deletion Glioma mate-paired sequence 20126413 chr5 8880000 10510000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr5 88829956 88830071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 8884170 8884270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 889145 890045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 8895177 8895277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89028037 89028137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89029136 91064166 LOH Normal High-resolution SNP genotyping 21211785 chr5 89039477 89039795 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 890501 919500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 8912139 8912239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89153056 89153156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89156933 94794974 Deletion small cell lung cancer array-CGH 20016488 chr5 89158487 94794267 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 89158767 94791867 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 89230180 89230280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89249170 89249270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 892968 918164 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr5 89311246 90198041 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 89322151 89322251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89361918 89362010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 8937726 8937849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89431263 89431363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89450545 89450784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89450660 89450779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89464207 89491316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 89472164 89487593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 89479056 89487167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 89479750 89479824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89484993 89503250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 89485425 89500165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 89485554 89489478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 895229 916851 Gain Normal 244K array 17666407 chr5 89535781 121819940 Deletion Acute myeloid leukemia - 21251322 chr5 89725287 89741359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 89725287 89741359 Gain and loss Pancreatic cancer SNP array 17952125 chr5 89725287 89741359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 89741573 89742241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 89741574 89742129 Gain and loss Pancreatic cancer SNP array 17952125 chr5 89773558 89776133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 89789778 89806341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 89789778 89806341 Gain and loss Pancreatic cancer SNP array 17952125 chr5 89789778 89806341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 89805001 89806500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 89806437 89846125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 89817141 89843743 Gain and loss Pancreatic cancer SNP array 17952125 chr5 89841514 89841614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89847200 89861157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 89847200 89861157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 89847202 89861138 Gain and loss Pancreatic cancer SNP array 17952125 chr5 8988838 8988938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89890372 90495789 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 89890373 90495789 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 89890373 90495789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 89894301 89898500 Deletion Glioma mate-paired sequence 20126413 chr5 89896178 89896498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 8990848 8991820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 89910460 89910518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 89912006 89912462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 89916508 90099927 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 89941401 90495788 Gain and loss Pancreatic cancer SNP array 17952125 chr5 89997632 90265060 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-497K arrays 21546498 chr5 90029031 90029087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 90155080 90157263 Duplication Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 chr5 90163374 90163460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90183203 91178822 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 90183203 91178822 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 90249985 90250053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90252 1540511 Deletion Intellectual disability Array CGH 22102821 chr5 90316808 90788310 Loss Bladder cancer array-CGH 21909424 chr5 9032101 9639300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 90355883 90355983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90364946 90366393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 90393468 90393548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90403615 90403715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90459937 90460037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90533601 90540000 Deletion Glioma mate-paired sequence 20126413 chr5 90534972 90539594 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 90535533 90537855 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr5 90602300 90602423 Gain and loss Pancreatic cancer SNP array 17952125 chr5 90602300 90602439 Gain and loss Pancreatic cancer SNP array 17952125 chr5 90602300 90602440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 90610450 90610742 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 90610450 90610742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 90612082 90612402 Gain and loss Pancreatic cancer SNP array 17952125 chr5 90620505 90620760 Gain and loss Pancreatic cancer SNP array 17952125 chr5 90620505 90620760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 90650176 90656825 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 90659985 90661898 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 90671731 90671831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9068788 9068888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90692788 90692888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90700299 90714877 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 90700299 90714877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 90700299 90714877 Gain and loss Pancreatic cancer SNP array 17952125 chr5 90700299 90714877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 90706496 90706590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90744618 90744718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90774102 90774202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90808096 90808593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 90808096 90808596 Gain and loss Pancreatic cancer SNP array 17952125 chr5 90819085 90819288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90819298 90819488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90822910 90823010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90837648 90837748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90843561 90843661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 90844964 90845064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9088137 9599233 Amplification Intellectual disability 100k SNP Array 21811512 chr5 9088139 9599233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 9088139 9599233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 90903382 90903461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9093308 9599158 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 9096009 9433058 Gain and loss Pancreatic cancer SNP array 17952125 chr5 90962439 90962539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 91019448 91019542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 91108293 91116594 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 91292625 91338337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 9130887 9363170 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 91374861 92509238 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 91471356 91472300 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 91516531 91516884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 916856 945915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 916856 945915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 916856 945915 Gain and loss Pancreatic cancer SNP array 17952125 chr5 916856 945915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 9177819 9190589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 91781078 91781178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 91830536 91830634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9183598 9183677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 91858467 91858567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 91861829 91902083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 91887618 91887718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 91890579 91890679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 91893638 91893738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 91900000 102800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 91900000 97300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 91900000 97300000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr5 91900000 97300000 Microdeletions Deafness FISH 19353646 chr5 91900000 97300000 Microdeletions Developmental delay FISH 19353646 chr5 91900000 97300000 Microdeletions dysmorphism FISH 19353646 chr5 91900000 97300000 Microdeletions feeding difficulties FISH 19353646 chr5 91900000 97300000 Microdeletions strabismus FISH 19353646 chr5 91924473 92509238 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 91924725 91960075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 919501 1047500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 92005725 95052316 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-502K arrays 21546498 chr5 92078895 92078976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 92082118 92108311 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 92082118 92110526 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 92083940 92108311 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 92083940 92110526 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 92088688 92108311 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 92091351 92108311 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 92177849 92177949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 922286 1773626 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 92250850 92252303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 92269872 92269972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 92300000 109600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 92300000 109600000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr5 92300000 115200000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 chr5 92300000 121400000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr5 92300000 98200000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 chr5 92300000 98200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 92314390 92320142 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 92331194 92331246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 9237656 9237745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 92409254 92409354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 92453000 92453100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 92577823 92577893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 92628800 92630043 Gain and loss Pancreatic cancer SNP array 17952125 chr5 92628800 92630049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 92657945 92687880 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr5 92687880 94858582 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr5 92702892 92703213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 92743002 94858582 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr5 92769274 92769374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 928019 972520 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 928070 12835922 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 92882870 92882970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 92924182 92969115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 92932001 92959500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 92944799 92955534 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 92944799 92955534 Gain and loss Pancreatic cancer SNP array 17952125 chr5 92944799 92955534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 92961819 92965060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 92962498 93668926 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 92979531 93473096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 92979531 93473096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 92979536 93472997 Gain and loss Pancreatic cancer SNP array 17952125 chr5 9298266 9343172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 93044299 93045179 Gain and loss Pancreatic cancer SNP array 17952125 chr5 93053757 95627006 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr5 93112508 93112608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93127644 93127733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93203050 93203150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93227926 93228026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93239722 93239822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93366880 93367020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93386712 93387712 Gain Cancer Human 24 color M-FISH 21215367 chr5 93386712 93387712 Gain Renal cell carcinoma References 21215367 chr5 93387598 93388598 Gain Renal cell carcinoma References 21215367 chr5 93435126 95161775 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 93443742 93443842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93515468 93757701 Gain and loss Pancreatic cancer SNP array 17952125 chr5 93515468 93757701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 93516716 93516816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93551926 93552064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93584456 93584556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93612164 93612253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93687335 93707155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 93699656 93699817 Gain Normal 244K array 17666407 chr5 93712577 93712677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93774435 93838645 Gain and loss Pancreatic cancer SNP array 17952125 chr5 93774435 93838645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 93781890 93782890 Loss Renal cell carcinoma References 21215367 chr5 93783789 93784789 Loss Renal cell carcinoma References 21215367 chr5 93790961 93969969 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 93790961 94067957 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 93880668 93980024 Gain and loss Pancreatic cancer SNP array 17952125 chr5 93880673 93980065 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 93880683 93980058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 93880683 93980058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 93886642 94067957 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 93929031 93934299 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 93929501 93932500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 93930928 93930996 Gain and loss Pancreatic cancer SNP array 17952125 chr5 93930928 93930996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 93932142 93932207 Gain and loss Pancreatic cancer SNP array 17952125 chr5 93932142 93932207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 93932209 93932277 Gain and loss Pancreatic cancer SNP array 17952125 chr5 93932209 93932277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 93940230 93940311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 93940401 93944400 Deletion Glioma mate-paired sequence 20126413 chr5 93942040 93942376 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 93979497 93979597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 93979808 94059082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 93979808 94059082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 93980109 94014829 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94010923 94013216 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94028224 94061433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 94039860 94057327 Gain and loss Pancreatic cancer SNP array 17952125 chr5 9404366 16031131 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr5 94045536 94232470 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 94068052 94443105 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94068957 94646035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 94068957 94646035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 9408246 9408346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94113930 94114030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94135382 94135710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 9418666 9451750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 9418712 9419712 Gain Renal cell carcinoma References 21215367 chr5 94219977 94220077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94258807 94258904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94303505 94303605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94324974 94325074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94348068 94348168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94358355 94359668 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 9437121 9437221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94440543 94440643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9453611 9453880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 94564301 94579274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 94564860 94564892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94565938 94581182 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 94565969 94579083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 94569185 94580250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 94569515 94579722 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 946003 971160 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr5 946004 971156 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 946004 971156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 946004 971156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 946004 971158 Gain and loss Pancreatic cancer SNP array 17952125 chr5 9464761 9465074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 94666164 94666264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94674626 94674716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 94684677 96910909 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 94751807 95907845 LOH Normal High-resolution SNP genotyping 21211785 chr5 94752804 94811897 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94752804 94811900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 94752804 94811900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 94796703 127083591 Substitutions and indels small cell lung cancer array-CGH 20016488 chr5 94801513 94802150 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94803206 95056523 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 94825355 94916465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 94825355 94916465 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94825355 94916465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 94865723 94866105 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 94882829 94882930 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94882829 94882935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 94888423 94888523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94916581 94966562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 94916581 94966562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 94916622 94966514 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94955159 94955259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94981538 94983159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 94981538 94983159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 94981736 94983040 Gain and loss Pancreatic cancer SNP array 17952125 chr5 94994057 94994193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 94994223 94994421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 95008239 95019542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 95008239 95019542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95008338 95018604 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr5 95008340 95018600 Gain and loss Pancreatic cancer SNP array 17952125 chr5 95013641 95044470 Gain and loss Pancreatic cancer SNP array 17952125 chr5 95014545 95044456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 95014545 95044456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95084131 95084132 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr5 95092606 95157827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 95092606 95157827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95092799 95156560 Gain and loss Pancreatic cancer SNP array 17952125 chr5 95175308 95184333 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr5 95175431 95184198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 95175431 95184198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95175440 95184189 Gain and loss Pancreatic cancer SNP array 17952125 chr5 9520219 9520319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 95204335 95204435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 95213932 95221593 Gain and loss Pancreatic cancer SNP array 17952125 chr5 95246560 95323531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 95246560 95323531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95248859 95323531 Gain and loss Pancreatic cancer SNP array 17952125 chr5 95252411 95337275 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 95257462 95566189 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 95267563 95267662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 95288879 95289260 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr5 95306168 95321518 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 95309189 95666538 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-479K arrays 21546498 chr5 95327219 95501405 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 95334501 95334807 Gain and loss Pancreatic cancer SNP array 17952125 chr5 95334501 95334807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95369068 95369421 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 95394052 95394253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 954016 2594434 LOH Normal High-resolution SNP genotyping 21211785 chr5 95421092 95454875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 95440598 95440672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95495199 95496199 Gain Renal cell carcinoma References 21215367 chr5 95510000 114140000 Loss Acute lymphoblastic leukemia - 21339820 chr5 95571581 95571687 Gain and loss Pancreatic cancer SNP array 17952125 chr5 95571581 95571687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95608129 96550514 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 95650388 95650462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 95670088 95670173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 95710799 153031141 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr5 95751874 95794708 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr5 95751875 95794708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 95751875 95794708 Gain and loss Pancreatic cancer SNP array 17952125 chr5 95751875 95794708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 95835296 96070243 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-498K arrays 21546498 chr5 95878832 95893021 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 95933539 97342676 LOH Normal High-resolution SNP genotyping 21211785 chr5 95935472 95935817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 95936906 95936975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 95950551 95950651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9597501 9599000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 95992292 95993117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 95992372 95992915 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 96000000 125000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr5 96023533 96136143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 96023533 96136143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96036997 96136139 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96057266 180617266 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr5 96096844 96907174 LOH Normal High-resolution SNP genotyping 21211785 chr5 96115092 96115192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 96121947 96122263 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 96122270 96169648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 96122270 96169648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96122277 96169398 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96237960 96279365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 96237960 96279365 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96237960 96279365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96271209 168210016 Deletion Acute myeloid leukemia - 21251322 chr5 96296001 96298500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 96296854 96390871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 96296854 96390871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96297230 96298304 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 96297555 96390496 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96303759 96304644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96324116 96324217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96324118 96324217 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96324119 96324216 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96370962 96371093 Gain and loss Pancreatic cancer SNP array 17952125 chr5 9639301 11385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 96395363 96398281 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96397681 96398088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 96397681 96398088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96417207 96462989 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 96417858 96418721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96418005 96418721 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96420355 96453096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 96453331 96504195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 96453331 96504195 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96453331 96504195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96524397 96544700 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 96524397 96544700 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96524397 96544700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96537410 96537573 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96537410 96537573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96565280 96666521 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 96643722 96643790 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 96658107 96659107 Gain Renal cell carcinoma References 21215367 chr5 96676819 96676852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 96741122 96741210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 96750613 96750762 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96750613 96750762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 96774515 96774594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9682115 9683467 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr5 9682115 9683467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 9682115 9683467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 9682245 9683144 Gain and loss Pancreatic cancer SNP array 17952125 chr5 96832501 96834000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 96837067 96837167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9688355 9688414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 96885021 96886961 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr5 96932584 96932684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 97015579 97060767 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 97038865 97038931 Gain and loss Pancreatic cancer SNP array 17952125 chr5 97038865 97038931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 97040146 97040213 Gain and loss Pancreatic cancer SNP array 17952125 chr5 97040146 97040213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 97053242 97121798 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr5 97054000 101265000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr5 97061006 97061337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 97066390 97759932 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-482K arrays 21546498 chr5 97073687 97119405 Loss Normal 244K array 17666407 chr5 97073815 97129695 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 97073815 97135797 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 97073815 97140075 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 97074222 97125428 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 97142617 97146263 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 97142617 97146263 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 97145534 97146309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 97163903 97702293 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 97182231 97182331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 97204878 97204962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 97300000 102800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 97300000 102800000 Deletion Normal - 22101487 chr5 97300000 102800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 97300000 102800000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr5 97300000 102800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr5 97300000 104500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr5 97300000 109600000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 chr5 97318110 97425174 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr5 97321903 100008964 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 97321903 97720491 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 97337872 97382841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 97421264 97575845 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 97425301 97430500 Deletion Glioma mate-paired sequence 20126413 chr5 97426272 97429582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 97427298 97428511 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 97427318 97428516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 97427324 97428560 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr5 97427324 97428560 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 97439703 97439795 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 97450477 97489621 Gain Normal 244K array 17666407 chr5 97463499 98474951 LOH Normal High-resolution SNP genotyping 21211785 chr5 97471965 97589824 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr5 97499666 97499726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 97512922 97517816 Gain Normal Birdsuite, version 1.5.2 22087296 chr5 97551154 98553078 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 97574862 97575581 Gain and loss Pancreatic cancer SNP array 17952125 chr5 97669829 99072777 LOH Normal High-resolution SNP genotyping 21211785 chr5 97671454 97671554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 97702352 97703435 Gain and loss Pancreatic cancer SNP array 17952125 chr5 97702392 97762775 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 97702584 97702893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 97717229 97717312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 97717884 97762799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 97765227 97781824 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 97773705 97773772 Gain and loss Pancreatic cancer SNP array 17952125 chr5 97773705 97773772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 97773777 97773842 Gain and loss Pancreatic cancer SNP array 17952125 chr5 97773777 97773842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 9778001 9779000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 97782138 97853674 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 97834754 97834854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 97837308 97909166 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr5 97854322 97872848 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 97871835 97872150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 97875233 97989664 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 9787832 9788696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 97928034 102841325 Loss Prostate cancer Array CGH 18632612 chr5 97960602 97960693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 97961571 97963403 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 97963403 97963670 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 97990226 98001226 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 97999894 98528591 LOH Normal High-resolution SNP genotyping 21211785 chr5 9800000 15000000 Aneuploidy Non-small cell lung cancer FISH 17643093 chr5 9800000 15000000 Copy number Mental retardation Illumina Infinium II HumanHap550 BeadChip 19546859 chr5 9800000 15000000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr5 9800000 15000000 Duplication Schizophrenia Affymetrix GeneChip 250K SNP array 18940311 chr5 9800000 15000000 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr5 9800000 15000000 Loss Mental retardation Array CGH 17847001 chr5 9800000 15000000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr5 98002177 98015307 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 98002701 98002835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 98015349 98027666 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 98016231 98033386 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 98028133 98079637 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr5 98038132 115575493 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr5 98043517 98044901 Gain and loss Pancreatic cancer SNP array 17952125 chr5 98074127 98626834 LOH Normal High-resolution SNP genotyping 21211785 chr5 9810391 9842920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 98113022 128318712 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr5 98117485 98123869 Loss Normal Birdsuite, version 1.5.2 22087296 chr5 98117832 98126348 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 98132900 98160096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 98132900 98160096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 98132903 98144789 Gain and loss Pancreatic cancer SNP array 17952125 chr5 9814019 9814107 Gain and loss Pancreatic cancer SNP array 17952125 chr5 9814023 9814118 Gain and loss Pancreatic cancer SNP array 17952125 chr5 9814028 9814116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 98200000 102800000 Loss Gastric cancer Array CGH 16891809 chr5 98200000 102800000 Loss Prostate cancer Array CGH 16461572 chr5 98200000 109600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 98200000 109600000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr5 98200000 115200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr5 98200000 115200000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr5 98200000 130600000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr5 98200000 139500000 Loss Gastric cancer 5K BAC array CGH 17908304 chr5 98200000 180915260 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr5 98218819 98290138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 98218819 98290138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 98219351 98290140 Gain and loss Pancreatic cancer SNP array 17952125 chr5 98238000 98238073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 98238406 101238566 LOH Normal High-resolution SNP genotyping 21211785 chr5 98240163 98240163 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr5 98253335 98253437 Gain and loss Pancreatic cancer SNP array 17952125 chr5 98253335 98253437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 98253335 98253438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 98286844 98286940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 98300242 98300351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 98300244 98300350 Gain and loss Pancreatic cancer SNP array 17952125 chr5 98300244 98300351 Gain and loss Pancreatic cancer SNP array 17952125 chr5 98315454 102079573 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr5 98346668 98378544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 98367831 98417351 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 98371301 98377300 Deletion Glioma mate-paired sequence 20126413 chr5 98373018 98375380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 98389525 98389625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 98407300 98687432 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-472K arrays 21546498 chr5 98419222 98419322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 98443949 98444038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 98505491 98506233 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 9850992 10044066 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 98613318 98613624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 98633225 98917493 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 98647634 99266810 LOH Normal High-resolution SNP genotyping 21211785 chr5 98793016 98851760 Deletion Intellectual disability Array CGH 22102821 chr5 98834165 98872240 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 98864739 98870808 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr5 98867789 98870803 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 98872240 106503931 LOH Normal High-resolution SNP genotyping 21211785 chr5 98886501 98889250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 98886535 98889892 Gain and loss Pancreatic cancer SNP array 17952125 chr5 98901844 98901944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 98949739 99422954 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr5 98956987 98984844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 99066786 99984346 LOH Normal High-resolution SNP genotyping 21211785 chr5 99183827 99183927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99189828 99190095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99202214 99202527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99216599 99244099 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 99235573 99537338 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 99267767 100006684 LOH Normal High-resolution SNP genotyping 21211785 chr5 99299931 99300134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 9932144 9976920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr5 99325399 99325499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99350191 99467882 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr5 99350191 99474075 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr5 99350606 99473668 Loss or gain Normal 244K array 17666407 chr5 99352399 99474075 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr5 99360150 99361446 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99385407 99385506 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99385407 99385507 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99385407 99385509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99387872 99387972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99409501 99417000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 99409640 99418359 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr5 99409982 99410050 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99409982 99410050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99412389 99412459 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99412389 99412459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99412461 99412518 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99412461 99412518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99412519 99412587 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99412519 99412587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99413870 99537338 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 99413870 99834078 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 99413870 99874154 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 99414256 99414320 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99414256 99414320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99414667 99414734 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99414667 99414734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99416363 99416432 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99416363 99416432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99417143 99417210 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99417143 99417210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99417212 99417283 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99417212 99417283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99425834 99431555 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99425834 99431662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99432472 99447496 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr5 99451009 99451109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99451609 99704437 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr5 99451609 99704437 Copy number gain Normal High-resolution SNP genotyping 21211785 chr5 99479362 100368525 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr5 99501600 99810104 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr5 99517275 99517382 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99517275 99517382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99522070 99522323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99522075 99522328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99529524 99834078 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 99541734 99548257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 9954196 9979729 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 9954196 9983536 Copy number loss Normal High-resolution SNP genotyping 21211785 chr5 9954952 9975903 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr5 99636047 99636358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99638951 99639046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99643308 99874154 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 99643308 99874154 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr5 9969397 10691164 LOH Normal High-resolution SNP genotyping 21211785 chr5 9969468 9969525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99743108 99751857 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr5 99752473 99754024 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99752501 99756000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr5 99754444 99756393 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99787360 99787677 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99821456 99821556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99829756 99829856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99830318 99838941 Gain Normal 244K array 17666407 chr5 99847175 99946398 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr5 99870122 99876233 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr5 99872715 99872815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99874420 99874520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr5 99882491 99883825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99898943 99950341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr5 99898943 99950341 Gain and loss Pancreatic cancer SNP array 17952125 chr5 99898943 99950341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr5 99950501 99953500 Deletion Glioma mate-paired sequence 20126413 chr5 99951433 99951737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr5 99992095 99992195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 0 170899992 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr6 100048808 100048893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100074066 100079271 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 100080694 100080800 Gain and loss Pancreatic cancer SNP array 17952125 chr6 100080694 100080802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100096983 100123411 Copy number Gastric cancer Human cDNA microarrays 17229543 chr6 100096985 100123185 Gain and loss Pancreatic cancer SNP array 17952125 chr6 100096985 100123411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 100096985 100123411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100097586 100123213 Deletion T-cell lymphomas Array-CGH 22341440 chr6 1001155 4623259 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 100130309 100131053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100139201 100143800 Deletion Glioma mate-paired sequence 20126413 chr6 100141222 100142036 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 100141423 100141972 Gain Normal 244K array 17666407 chr6 100161327 100170175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 100161327 100170175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100161371 100170175 Deletion T-cell lymphomas Array-CGH 22341440 chr6 100161632 100170175 Gain and loss Pancreatic cancer SNP array 17952125 chr6 100183118 100183218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100196569 103822672 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 100196834 100196944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100196836 100196944 Gain and loss Pancreatic cancer SNP array 17952125 chr6 100196837 100196943 Gain and loss Pancreatic cancer SNP array 17952125 chr6 100213195 100213278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100259538 100259638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100268487 100268612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100316695 100316795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100337711 100368558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 100340046 100340146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100366851 100366999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 100397266 100397366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100404246 100404295 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 100407266 100407500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100407484 100407693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100421147 100628893 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 10043123 10043223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100474506 100548835 Copy number Lung cancer - 20668451 chr6 100474506 100548835 Gain or loss Breast cancer - 20668451 chr6 100474506 100548835 Gain or loss Cancer - 20668451 chr6 100474506 100548835 Gain or loss Lung cancer - 20668451 chr6 100474506 100548835 Gain or loss Ovarian cancer - 20668451 chr6 100474506 100548835 Gain or loss Pancreas cancer - 20668451 chr6 100474506 100548835 Gain or loss Prostate cancer - 20668451 chr6 100474507 100548820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 100474507 100548820 Gain and loss Pancreatic cancer SNP array 17952125 chr6 100474507 100548820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100521824 100521899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100600000 114600000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr6 100600000 118300000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr6 100600000 126100000 Loss Prostate cancer Array CGH 16461572 chr6 100600000 130300000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr6 100604980 100605862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100644628 100645968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 100690758 100691260 Gain and loss Pancreatic cancer SNP array 17952125 chr6 100690758 100691260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100731806 100732789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100731842 100732743 Gain and loss Pancreatic cancer SNP array 17952125 chr6 100833256 100833354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 100901922 101961941 LOH Normal High-resolution SNP genotyping 21211785 chr6 10091850 10360841 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 100939606 101019494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 100939606 101019494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 100943471 101018272 Gain and loss Pancreatic cancer SNP array 17952125 chr6 101000242 121511318 Deletion Cancer Affymetrix 250K Sty array 20164920 chr6 101001001 101024500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 101062791 101435961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 101062791 101435961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 101063333 101435870 Gain and loss Pancreatic cancer SNP array 17952125 chr6 101084873 101085649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 101107740 105665855 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr6 1011195 3268059 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 101155829 101379140 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 1014021 32537944 Copy number Lung cancer paired-end sequencing 18438408 chr6 1014298 1014478 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 1014298 1014478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 101460906 101461006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 101486830 101491649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 101511757 101511859 Gain and loss Pancreatic cancer SNP array 17952125 chr6 101511757 101511859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1015326 10224651 Copy number Autism exome sequencing 22495311 chr6 101543417 103872150 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 101572405 101572492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 101573321 102144377 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 101585688 101585783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 101696187 101728948 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 101702522 101702864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 101716283 102267967 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 101717619 101717719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10176701 10180900 Deletion Glioma mate-paired sequence 20126413 chr6 101780831 101780931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10178779 10179091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 101815720 101815819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 101883715 101885454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 101904948 101937143 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 101953385 102624651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 101953385 102624651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 101953875 102623474 Gain and loss Pancreatic cancer SNP array 17952125 chr6 101985008 101986150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 102038580 102065674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 102041250 102045717 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 102041252 102045717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 102041253 102043181 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 102041328 102045443 Loss Normal 244K array 17666407 chr6 102043187 102045722 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 102163824 102383417 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-521K arrays 21546498 chr6 102171840 102172003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102172034 102172155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102202462 102202612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10226671 10227471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 102294263 102294363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102304668 102304768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102315017 102315117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102316465 102316688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 102401101 102401201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102446702 103844778 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 102477145 102477179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10250336 10645122 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 1025164 1050181 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 1025164 1050181 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1025164 1050181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 102525246 102525792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 102534335 102534435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10263319 10285599 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 102633440 102634123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 102715791 103566483 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 102723569 103522712 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 102723569 103566483 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 102778387 102778487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102846084 102846299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102920897 102922854 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 102921816 102922503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 102946248 102960473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 102958298 102958483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102958343 102958474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102963951 102964026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 102965488 102965588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 103004194 103004274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 103007735 103008637 Gain and loss Pancreatic cancer SNP array 17952125 chr6 103007935 103008360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 103113163 103590875 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 103125017 103125117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 103134579 103134677 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 103189144 103189198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10322098 10683382 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10322104 10322581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 103224185 103224266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 103242724 103537117 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 103255429 103412632 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 1033000 27766000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr6 10330255 10330377 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10330255 10330377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10330255 10330380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 103381419 103609341 Loss Normal 244K array 17666407 chr6 10339590 10339655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 103468067 103468344 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr6 103508428 103508488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 103557082 103558465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 103572351 103572451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 103622810 103622910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10371101 10375100 Deletion Glioma mate-paired sequence 20126413 chr6 103770416 103770514 Insertion Non-syndromic sensorineural hearing loss - 22037309 chr6 103818151 103874226 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 103827412 103883524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 103831330 103898013 Copy number Alcoholism Illumina Human Hap682W-Quad BeadChip 21790672 chr6 103831330 103898013 Copy number Normal - 21790672 chr6 103834514 103911696 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 103834514 104012090 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 103834671 103834771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 103839440 103889533 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 103840867 103841338 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 103841338 103844669 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 103841338 103868754 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 103841519 103872150 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 103841522 103872163 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 103843305 103877588 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 103843385 103870879 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 10384392 10384486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 103844158 103869578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 103844189 103870914 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 103844657 103868742 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 103844657 103868742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 103844657 103872363 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 103844669 103868754 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 103844669 103868754 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 103844669 103868754 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 103844669 103872163 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 103844720 103868742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 103844763 103870611 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 103844765 103868742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 103844869 103868742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 103845112 103868183 Gain Normal 244K array 17666407 chr6 103845142 103877766 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 103845142 103877766 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 103850270 103881741 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 103850270 103881741 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 103850758 103865914 Copy number Lung cancer paired-end sequencing 18438408 chr6 103854411 103868742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 103860486 103860894 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 103868726 106397898 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 103869666 103869826 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 103876323 112931463 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 103879979 103880062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 103880894 138096981 Copy number Lung cancer paired-end sequencing 18438408 chr6 10401982 10402126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 104137703 104137836 Gain and loss Pancreatic cancer SNP array 17952125 chr6 104137703 104137836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 104137703 104137839 Gain and loss Pancreatic cancer SNP array 17952125 chr6 104153006 105337364 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 104200000 106000000 Gain Acute myeloid leukemia BAC Array CGH 17237825 chr6 104200709 104245777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 104215122 104700574 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 104282675 104588821 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 104289878 104290202 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 104350406 104350559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104350564 104350798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104350596 104350696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104376783 104376883 Insertion Non-syndromic sensorineural hearing loss - 22037309 chr6 104402715 104447089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 104475045 104510057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 104490474 104490660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104572201 104574316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 104580108 104581331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 104601060 104606797 Gain Normal 244K array 17666407 chr6 104637126 104637359 Gain and loss Pancreatic cancer SNP array 17952125 chr6 104638637 104639321 Gain and loss Pancreatic cancer SNP array 17952125 chr6 104643715 104648178 Gain and loss Pancreatic cancer SNP array 17952125 chr6 104678139 104678491 Gain and loss Pancreatic cancer SNP array 17952125 chr6 104679147 104679237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104700574 125603566 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 104705983 104706332 Gain and loss Pancreatic cancer SNP array 17952125 chr6 104709428 104919391 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 10473843 10474801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 104741203 104741260 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 104741602 104741657 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 104752585 104752685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104768401 104768477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104772436 104772664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104772532 104772666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104772654 104772883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104772659 104772765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10479637 10526556 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr6 104800000 113900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 104800000 113900000 Deletion Chronic lymphocytic leukemia FISH 17805327 chr6 104800000 113900000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr6 104800000 113900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 104800000 113900000 Insersion Autism three-colour fluorescence in situ hybridisation 17483303 chr6 104800000 113900000 Loss Non-small cell lung cancer - 21385341 chr6 104800000 113900000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 104800000 130400000 Loss Chordoma Array CGH 21602918 chr6 104800000 135200000 Copy number Kartagener syndrome reference 16639409 chr6 104811393 104811485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104848927 104848986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104879362 104915877 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 104905489 104905584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 104923619 105082413 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 104929919 104930009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105037634 105909565 LOH Normal High-resolution SNP genotyping 21211785 chr6 10504902 10527783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10504902 10527783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105051071 105051171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105055319 105055419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10506149 10523204 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105061851 105720900 Deletion Thoracic aortic aneurysm Illumina SNP arrays 21698135 chr6 105066243 105066343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105100000 111800000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr6 105107095 105107185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105131540 105175931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 105156342 105156377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105167016 105167116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10518001 10535000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 10522286 10524176 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105235471 105235571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105241809 105242239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105242744 105289259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 10525597 10525683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105275010 105275110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105278000 114878000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 105282660 105414487 Gain or loss Breast cancer - 20668451 chr6 105282660 105414487 Gain or loss Cancer - 20668451 chr6 105282660 105414487 Gain or loss Lung cancer - 20668451 chr6 105282660 105414487 Gain or loss Ovarian cancer - 20668451 chr6 105282660 105414487 Gain or loss Pancreas cancer - 20668451 chr6 105282660 105414487 Gain or loss Prostate cancer - 20668451 chr6 105282661 105414451 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105282661 105414867 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 105282661 105414867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105302783 105767502 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 105321390 105321463 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105321390 105321463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105324810 105324881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105328666 105328961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 105332220 105376762 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 105334881 105368499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 105337364 115291611 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 105367477 105369570 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 105367520 105370450 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 105373011 105767502 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 10537582 10543041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10537582 10543041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10537664 10542646 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105385355 105385615 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105385355 105385615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105494745 105495095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105500000 114600000 Copy number Autism Illumina Infinium II HumanHap550 BeadChip 19546859 chr6 105500000 114600000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 chr6 105500000 114600000 Copy number Systemic lupus erythematosus References 19220326 chr6 105500000 114600000 Copy number Tourette syndrome Illumina Infinium II HumanHap550 BeadChip 19546859 chr6 105500000 114600000 Deletion Acute lymphoblastic leukemia Human cDNA microarrays 17229543 chr6 105500000 130300000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr6 105500000 135200000 Loss Breast cancer Microarray-based CGH 17133270 chr6 105500000 149000000 Copy number Follicular lymphoma Whole-genome tiling-path BAC-array CGH 18703704 chr6 105511616 105635514 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105511616 105637899 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 105511616 105637899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10551783 10751118 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 105571815 106080447 LOH Normal High-resolution SNP genotyping 21211785 chr6 105571815 106094591 LOH Normal High-resolution SNP genotyping 21211785 chr6 105600130 105600236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105600155 105600236 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105603970 105604120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105651390 105691236 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 105651390 105691236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105651394 105691742 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105673939 105674039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105674531 105674865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 10568125 10568760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105692255 105724502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 105692255 105724502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105712476 105734563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 105712476 105734563 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105712476 105734563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105735717 105735800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105759408 109159408 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 105764990 105795130 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 10579023 13035212 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 10580456 10637208 Loss or gain Normal 244K array 17666407 chr6 105832199 105957662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 105832199 105957662 Gain and loss Pancreatic cancer SNP array 17952125 chr6 105832199 105957662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105849521 105849613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 105852717 105853463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 105857021 105857391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10600000 11200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 10600000 25200000 Amplification Osteosarcoma References 16790693 chr6 10600442 10737586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10600442 10737586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 106058765 106958932 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 106058765 107387007 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 106124905 106156675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 106193471 106193571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106203960 106249139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 106220894 106222566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10622501 10623192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10623556 10657973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 106261343 106264301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 106284893 106284993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106288161 106288231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106319327 106319375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106379320 106379420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106383128 106383228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106404843 106449395 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 106421573 106421673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106458941 106459188 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106458941 106459271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 106458941 106459273 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106461084 106495281 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 106510535 106512913 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 106515367 106515433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 106556980 106557080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106557078 106557163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106560957 106562088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 10657183 10657283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106591379 108103633 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr6 106626906 116596208 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chr6 106626906 116596208 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 10663935 10737586 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr6 10663935 10737586 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106640888 106664507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 106640888 106664507 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106640888 106664507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 106651899 106681954 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 106709729 107027119 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 106709729 107027119 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 106739044 106880361 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106739044 106880388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 106739044 106880388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 106786684 106787124 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10682968 10683446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 106837981 106838279 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106837981 106838279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 106858744 106858854 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106858746 106858843 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106941979 106965192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 106975274 106975373 Gain and loss Pancreatic cancer SNP array 17952125 chr6 106975274 106975375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 106975868 106975900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 106978626 108125089 LOH Normal High-resolution SNP genotyping 21211785 chr6 107003947 107004036 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107003949 107004063 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107003949 107004065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107009396 107009495 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107009396 107009497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107009397 107009495 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107028442 107428188 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr6 107035526 107035842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 107058287 126143999 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 chr6 107066423 107125028 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 107066423 107125028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 107066423 107125028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107066910 107125012 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107090316 107090634 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 107125596 107184066 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 107125596 107184066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 107125596 107184066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107126545 107184045 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107127877 107503845 Loss Bladder cancer array-CGH 21909424 chr6 107135744 107135839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10714823 10714874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 107162284 107162383 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107162284 107162384 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107162284 107162387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1071810 10889206 Copy number Autism exome sequencing 22495311 chr6 107184145 107222103 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 107184146 107222103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 107184146 107222103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 107184146 107222103 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107184146 107222103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107197031 107197496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107231215 107231527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 107231227 107231539 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 107256554 107256639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 107262737 107262837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 107269554 107269654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 107293516 107293613 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107293516 107293622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107293517 107293622 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107338693 107338788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107410482 107410660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 10742213 10743391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10742213 10743391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107435330 107435404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 107454507 107488784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 107456110 107479237 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 107456110 107479239 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107456110 107479239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107467536 117963320 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr6 107482280 107506469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 107493079 107543166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 107493079 107543166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107496601 107498613 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107505202 107505328 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107505202 107505328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107530943 107553538 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 107530943 107592349 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 107560969 107561043 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107560969 107561043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107580456 107887448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 107580456 107887448 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107580456 107887448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1075808 1075878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 107598945 107772723 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 107599923 107887182 Loss Autism Exome sequencing and CGH 22495309 chr6 107625784 107625856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 107650957 107653180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 107653935 107654136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107656428 107856693 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr6 107657141 107657380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107657656 107658049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107662138 107662396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107665161 107667839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107671653 107672022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107673802 107673885 Insertion Non-syndromic sensorineural hearing loss - 22037309 chr6 107677174 107691778 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 10767743 10769858 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10767743 10769858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107691064 107691310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107719384 107719484 Insertion Non-syndromic sensorineural hearing loss - 22037309 chr6 107756068 109611824 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr6 10779641 10802828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10779641 10802828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10779642 10802828 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107819700 109655406 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 10782877 10782987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10782878 10782987 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10782879 10782987 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107918010 108089195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 107918010 108089195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 107918436 108016833 Gain and loss Pancreatic cancer SNP array 17952125 chr6 107957408 107957508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 107959196 111971187 Deletion Intellectual disability Array CGH 22102821 chr6 108026930 109225183 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 10803174 10817954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10803174 10817954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10803176 10817954 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108061951 108063363 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108083 58827841 Gain Retinoblastoma Array-CGH 19183342 chr6 108105720 109801294 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 108128269 108128341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 108130060 108252214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 108130060 108252214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108132001 108252214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 108138036 108139079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 108146851 108200148 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10825998 10826098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 108295652 108386175 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 108298215 108386086 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 108298215 108386086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 108298215 108386086 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108298215 108386086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10831324 10839338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10831324 10839338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10831324 10839340 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108340269 108340392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 108357985 108358079 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108359697 108360151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108361751 108363500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 108372806 108373102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 108412986 108413587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108413591 108413677 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108413591 108413677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108413708 108413928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108415352 108444960 Gain Autism qPCR 20531469 chr6 108432254 108433465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108432419 108433465 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108436223 108436323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 108469306 108502634 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 108469306 108502634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 108469306 108502634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108470717 108502628 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108471599 108471903 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 108488715 108488825 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10852215 10852454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 108541501 108548000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 108553473 108553623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 10856024 10865192 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10856024 10865200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10856024 10865200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108592001 108597500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 108593955 108616699 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108593955 108616704 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 108593955 108616704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 108593955 108616704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10861008 10861145 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10861008 10861145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10861010 10861145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108616100 119669000 Loss Prostate cancer Array CGH 18632612 chr6 108639411 108689156 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 108639411 108689156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 108639411 108689156 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108639411 108689156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108671352 108671454 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108671352 108671454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108680111 108680297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108680298 108680385 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108680298 108680404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10870942 10946714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10870942 10946714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10870942 10946746 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108720663 108720766 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108720663 108720766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108722791 108950942 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 108722791 108950942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 108722791 108950942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108722791 108950958 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108724492 108724592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 108745976 108746301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108780000 109136000 Hemizygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 chr6 108780000 109136000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 chr6 108783383 109034288 Loss Bladder cancer array-CGH 21909424 chr6 108800669 108800824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108807501 108808500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 108815409 108815977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108819970 108820045 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108819970 108820072 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108819970 108820073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108863061 109313107 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 108926607 109047518 Amplification or deletion Cancer Array CGH 17440070 chr6 10894964 10895064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 108985001 108990500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 108987718 109112664 Gain or loss Breast cancer - 20668451 chr6 108987718 109112664 Gain or loss Cancer - 20668451 chr6 108987718 109112664 Gain or loss Lung cancer - 20668451 chr6 108987718 109112664 Gain or loss Ovarian cancer - 20668451 chr6 108987718 109112664 Gain or loss Pancreas cancer - 20668451 chr6 108987718 109112664 Gain or loss Prostate cancer - 20668451 chr6 108987719 109108637 Gain and loss Pancreatic cancer SNP array 17952125 chr6 108987719 109108647 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 108987719 109112664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 108987719 109112664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 108995171 109511112 Deletion Breast cancer FISH 17142309 chr6 1090154 1135643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 109021818 109021850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109029742 109029832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109045896 109046181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109070186 109098842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 109093827 109093906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109120501 109155068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 109127026 110335843 LOH Normal High-resolution SNP genotyping 21211785 chr6 109146761 109147074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 109179552 109197014 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 109179552 109197014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10918858 10953538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 109213585 109214949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109213699 109214949 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109245802 109245902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109276311 109402045 Copy number Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr6 109276311 109402045 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 109276312 109402045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109276312 109402045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109276318 109401877 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 109276318 109401877 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109284296 109284633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109317145 109318294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 109328539 109429247 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 10933516 10978606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 109335505 109335765 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109335511 109335769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109347000 109435000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr6 109414340 109521970 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 109414340 109521970 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109414340 109521970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109441151 109610493 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 109446690 109446770 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109446690 109446770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109487405 109487510 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109487405 109487510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109487406 109487510 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109511160 109511260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109523049 109591806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109523049 109591806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109523056 109591799 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 109523416 109591799 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109593727 109624998 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109593727 109624998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109611824 109624998 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 109658758 109658858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109663021 109663121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109664510 109698910 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 109664510 109698910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109664510 109698910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109664557 109698267 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109716336 109716458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109716467 109718399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109719151 109719254 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109719151 109719254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109722199 109743314 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 109722199 109743314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109722199 109743314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109733390 109733489 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109733390 109733491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109733391 109733490 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109739728 109775820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 109752054 110762276 LOH Normal High-resolution SNP genotyping 21211785 chr6 109755071 109755452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109755071 109755454 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109756860 110280538 LOH Normal High-resolution SNP genotyping 21211785 chr6 109766371 109782869 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 109766371 109782869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109766371 109782869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109794412 109810353 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109794416 109810340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109794416 109810340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10981450 10990084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10981450 10990084 Gain and loss Pancreatic cancer SNP array 17952125 chr6 10981450 10990084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109820627 109868524 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109820627 109869067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109820627 109869067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109858150 109858902 Loss Normal 244K array 17666407 chr6 109868001 109884500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 109868624 109871814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109868624 109871814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109868659 109871814 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109871961 109883883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109871961 109883883 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109871961 109883883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109890412 109911133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109890412 109911133 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109890412 109911133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109920757 109934386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109920757 109934386 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109920757 109934386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 10995050 11082523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 10995050 11082523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109955525 109978433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 109955525 109978433 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109955525 109978433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 109991089 109991189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109991493 110042335 Gain and loss Pancreatic cancer SNP array 17952125 chr6 109992773 109992855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 109994389 110134798 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 109994389 110227323 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 10999726 11069781 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110000 42427000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr6 110007241 110119113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 110007241 110119113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110027800 110027900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110034298 110034348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110059595 110119113 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110060800 110097680 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 110086649 110086749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110102803 110102972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110102975 110103230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110102984 110103112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110119161 110253327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 110119161 110253327 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110119161 110253327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110159505 110204355 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 110181046 110181151 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110181046 110181151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110181062 110181151 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110229265 110262685 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 110279402 110281119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 110327072 110327172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110341005 110496619 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 110341039 110341301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 110346163 110376808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 110406001 110408000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 110406987 110408614 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110406991 110408614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 110406991 110408614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110500761 110522501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 110500761 110522501 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 110502812 110520003 Loss Normal 244K array 17666407 chr6 110502884 110519918 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr6 110502884 110519930 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 11051751 11051955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110527714 110607559 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110527715 110607900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 110527715 110607900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110542932 110543032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110583102 110589000 Loss Normal 244K array 17666407 chr6 110583420 110586460 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 110608037 110682171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 110608037 110682171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110608317 110660111 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110643193 110678349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 110661304 110661404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110672405 110786168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110672405 110843446 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110676430 110678578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 110717582 110717665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110818578 111835226 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 110819667 110847425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 110819667 110847425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110852603 110904537 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110852627 110904537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 110852627 110904537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110867895 110868199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110867968 110868199 Gain and loss Pancreatic cancer SNP array 17952125 chr6 110867968 110868199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11088978 11152610 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11088981 11152610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 11088981 11152610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 110912630 110912730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110959446 110959592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110961479 110961569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 110972395 110972448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 110990071 110990511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11100 11100 Copy number Lymphoma KC-SMARTR 21070656 chr6 111037874 111243533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 111037874 111243533 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111037874 111243533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111043536 111043611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 111049797 112059735 LOH Normal High-resolution SNP genotyping 21211785 chr6 111049797 112076005 LOH Normal High-resolution SNP genotyping 21211785 chr6 111073658 111074454 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111073658 111074454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11110371 17397320 Gain Bladder cancer array-CGH 21909424 chr6 111128458 111128796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111134258 111134778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111150146 111150243 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111150146 111150244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111150148 111150242 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111151738 111151896 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111177710 111178262 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 111199292 111199880 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111243108 111243534 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111250610 111251430 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111276442 111276569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111276442 111276570 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111284313 111284415 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111284313 111284418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111284327 111284415 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111284698 111835226 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 111286135 111287043 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111286135 111287043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111302679 111323606 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 111302680 111323609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 111302680 111323609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111302681 111323599 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111317031 111317176 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 111351462 111352003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111366130 111366215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 111386456 111395772 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111386456 111395772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111387447 124382232 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 111391362 111391464 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111391362 111391464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111400267 111416194 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 111401904 111402210 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 111409984 111453486 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 111409984 111453486 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111409984 111453486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11142621 11142755 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 111436166 111436272 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111436166 111436272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111474764 111475384 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111474764 111475417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 111474764 111475417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11150895 11182640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 111515399 111650909 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111515399 111651838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 111515399 111651838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111519109 111519215 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111519109 111519215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111519110 111519226 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111531624 111531724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 111548013 111581957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 111591966 111620108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 111629316 112090001 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 111647065 112403213 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 111687175 111696952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 111687175 111696952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111687266 111695205 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11170111 11170211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 111726927 111911125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 111726927 111911125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111726971 111911608 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111763654 111796161 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 111781598 111782079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111807663 121697293 Deletion brachycephaly - 20877625 chr6 111807663 121697293 Deletion epicanthic folds - 20877625 chr6 111807663 121697293 Deletion Hypoplastic - 20877625 chr6 111807663 121697293 Deletion Hypotonia - 20877625 chr6 111807663 121697293 Deletion Mental retardation - 20877625 chr6 111807663 121697293 Deletion Mental retardation FISH Pos 20877625 chr6 111807663 121697293 Deletion Microcephaly - 20877625 chr6 111807663 121697293 Deletion micrognathia - 20877625 chr6 11182288 11185184 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 111826078 111826149 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111826078 111826149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111831595 111831652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 111858156 111859677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11187234 11187331 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11187234 11187331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111922887 111923609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1 119515 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 111966346 147764777 Deletion Normal Standard GISTIC 21527027 chr6 111984350 112033957 Gain and loss Pancreatic cancer SNP array 17952125 chr6 111986836 112034014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 111986836 112034014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 111991577 111991677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 11200000 13500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 11200000 13500000 Gain Barrett's adenocarcinoma FISH 18663352 chr6 11200000 26400000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 chr6 112002553 114086494 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 112074225 112074323 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112074225 112074323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11207901 13586100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 112084703 112084803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112086359 112118705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 112089177 112301320 Gain or loss Breast cancer - 20668451 chr6 112089177 112301320 Gain or loss Cancer - 20668451 chr6 112089177 112301320 Gain or loss Lung cancer - 20668451 chr6 112089177 112301320 Gain or loss Ovarian cancer - 20668451 chr6 112089177 112301320 Gain or loss Pancreas cancer - 20668451 chr6 112089177 112301320 Gain or loss Prostate cancer - 20668451 chr6 112089178 112301320 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112089190 112301320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 112089190 112301320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11211913 11213529 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11211913 11213529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112258078 112302476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 112276043 113483741 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 112310544 112310861 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 112313696 112343031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 112326528 112337924 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 112329601 112338100 Deletion Glioma mate-paired sequence 20126413 chr6 112331119 112336350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 112417796 112417896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112464023 112464123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112481971 112498864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 112481971 112498864 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112481971 112498864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112498675 112515375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 112498675 112515375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112498712 112515397 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112515366 112530686 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 112515367 112530685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 112515367 112530685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112534139 112534239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112535827 112682542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 112535827 112682542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112536761 112682605 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112537541 112537703 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 112538541 112538636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112601804 112601904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112607 115631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112624335 112624441 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112624335 112624441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112638519 112638619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112697409 112697497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112717096 112717196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 11272042 11272142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112751749 112752524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 112752991 112753077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112753648 112754644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112753663 112754644 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112775225 112779191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 112775225 112779191 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112775225 112779191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112777087 112777187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112783736 112784609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112789365 112789970 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112789470 112790384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112793599 112795339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112822867 112822957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112884505 112884581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112885678 112885777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112904621 112904721 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112904621 112904721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 112904765 112904859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 11291520 11341677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 11291520 11341677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11291520 11490535 Gain and loss Pancreatic cancer SNP array 17952125 chr6 112936419 114380283 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 112938755 114378833 Deletion small cell lung cancer array-CGH 20016488 chr6 112947439 112947539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 112981889 112986195 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 112994031 112994123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113037285 113037385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113045506 113045613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 113047208 117916793 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr6 113095001 113096500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 113117001 113118000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 1131754 1131853 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1131754 1131853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 113188585 113188666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113207797 113207897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113253203 113253303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113328388 113328488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113399388 113399486 Gain and loss Pancreatic cancer SNP array 17952125 chr6 113399388 113399487 Gain and loss Pancreatic cancer SNP array 17952125 chr6 113399388 113399494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1 13400000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr6 1 13400000 Loss Prostate cancer Array CGH 16573809 chr6 113403612 113403712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1 13403850 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 113438832 113439310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 113457369 113457474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1134595 1166952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 113488676 115711988 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 1 13500000 Gain Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 chr6 1 13500000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr6 113569072 115520484 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 113650061 113651116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 113650061 113651116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 113651118 113651967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 113685336 113685412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113695120 113695220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113706706 113706806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113723906 113723965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113759039 113759139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113761136 113761236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113774923 113775023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113808504 113809828 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 11384014 14122676 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 113882119 113882219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 113900000 117100000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 chr6 113900000 117100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 113900000 117100000 Deletion Biliary cancer Array CGH 19435499 chr6 113900000 117100000 Loss Non-small cell lung cancer - 21385341 chr6 113900000 118600000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 113900000 170899992 Inversion Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr6 1 139100000 Gain Normal - 21541734 chr6 113942882 113942978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114001963 114002307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 114009396 114009842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114132752 114132819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114209238 114209360 Gain and loss Pancreatic cancer SNP array 17952125 chr6 114209238 114209360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114238387 114238474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114267159 114267500 Gain and loss Pancreatic cancer SNP array 17952125 chr6 114267159 114267501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11427840 11427936 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 114285219 114291345 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 114285249 114289673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 114285249 114289673 Gain and loss Pancreatic cancer SNP array 17952125 chr6 114285249 114289673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114330639 114331727 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 114330722 114331939 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 114331995 114349499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 114331995 114349499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114332297 114347034 Gain and loss Pancreatic cancer SNP array 17952125 chr6 114364019 114399047 Gain or loss Breast cancer - 20668451 chr6 114364019 114399047 Gain or loss Cancer - 20668451 chr6 114364019 114399047 Gain or loss Lung cancer - 20668451 chr6 114364019 114399047 Gain or loss Ovarian cancer - 20668451 chr6 114364019 114399047 Gain or loss Pancreas cancer - 20668451 chr6 114364019 114399047 Gain or loss Prostate cancer - 20668451 chr6 114364022 114399047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 114364022 114399047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114368575 114399016 Gain and loss Pancreatic cancer SNP array 17952125 chr6 114385191 169891311 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 114447478 114448340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114461684 114461784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 114474109 114474207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 114484106 114484826 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 114485071 114490735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 114485071 114490735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114485114 114490702 Gain and loss Pancreatic cancer SNP array 17952125 chr6 114512025 114512649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114548197 114548403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 114548397 114548557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1145595 1145695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 114582485 114582585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 114600000 118300000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr6 114600000 118300000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr6 114600000 118300000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr6 114600000 130300000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr6 114600000 130300000 Loss Metastatic melanoma FISH, Enzo BioArray CGH Labeling System 18483359 chr6 114600000 171115067 Deletion Adenoid cystic carcinoma Array CGH 18698036 chr6 114600000 171115067 Gain head and neck squamous cell carcinoma CGH 17671120 chr6 114621527 115238795 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chr6 114648538 114648643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114648554 114648642 Gain and loss Pancreatic cancer SNP array 17952125 chr6 114653665 114653765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 114660087 116680921 LOH Normal High-resolution SNP genotyping 21211785 chr6 114660087 116688214 LOH Normal High-resolution SNP genotyping 21211785 chr6 114664453 114709175 Gain Normal 244K array 17666407 chr6 114705242 114705335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114719666 115250872 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 114730888 114730988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 114745220 114753632 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 114773001 115633650 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 114777340 114778505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 114843965 114844115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 11490000 26660000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr6 114920188 114920266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 114921294 114921326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115048511 115048611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115077889 115122898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 115109688 115109720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115207945 115211857 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 115213834 115213934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115291611 118026914 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 115294764 115294833 Gain and loss Pancreatic cancer SNP array 17952125 chr6 115294764 115294833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 115309295 115309483 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 115388610 115432398 Loss Normal 244K array 17666407 chr6 115391200 115391271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115453356 115453391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115505852 116137208 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 115505852 117182325 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 11552326 11552637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 115646390 115646490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115711988 116139548 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 115729501 115733400 Deletion Glioma mate-paired sequence 20126413 chr6 115731229 115731545 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 115749261 115750361 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 115768884 115768977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115786355 115786609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 115810326 115810358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115810652 115825052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 115880501 115886800 Deletion Glioma mate-paired sequence 20126413 chr6 115891394 115891494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115895071 116068349 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 115917032 115917132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 11595072 11595172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 115991124 115993276 Gain Normal 244K array 17666407 chr6 11600000 13400000 Gain Metastatic melanoma FISH, Enzo BioArray CGH Labeling System 18483359 chr6 116008386 116009088 Loss Normal 244K array 17666407 chr6 11611727 11611890 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11611728 11611890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11611736 11611890 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116139548 116453092 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 116142139 116142239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116191082 117501143 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 116205090 116207531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11622411 11624685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116230063 116230148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116271124 116495100 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116304898 116752141 Amplification Breast cancer FISH 17142309 chr6 116306923 116307086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116306967 116307067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116358877 116358958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116369389 116488614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116369389 116488614 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116369389 116488614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116421545 116421627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116453092 117336716 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 11645924 11691743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116466612 116467351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116475005 116475210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116528692 116673545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116528692 116673545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116528692 116673545 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116528692 116673545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116531693 116531793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116546779 116553989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116546779 116553989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116546802 116553989 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116564914 116565428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116606082 116606192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116606088 116606192 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116606103 116606189 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11664078 11664397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 116677817 116682014 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116677817 116682014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116677817 116682014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116680620 116681864 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116686349 116686971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116686390 116686974 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116689988 116690072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116701701 116701776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116703986 116704378 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116703986 116704378 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116704434 116707759 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116704434 116707759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116704434 116707759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116704438 116707973 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 116706373 116707686 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116707976 116866138 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11671030 11671130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116752708 116752808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116790340 116790440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116798214 116866135 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116798214 116866135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116798214 116866135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116798802 116866135 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 116843964 116844155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116844145 116844245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116857507 116857825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 116880870 116881421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116885179 116886212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116885179 116886212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116889226 116891627 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116889226 116891627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116889226 116891627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116889783 116891339 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116892893 116892993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116894808 116894887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116898561 116898677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116898678 116898850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 11689885 11716915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 116910098 116910198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 116922843 116973370 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116922843 116973370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116939487 116944563 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116939500 116946402 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 116939501 116946401 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116939501 116946401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116939501 116946401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116956887 116986724 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 116956888 116986724 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116956888 116986724 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116956888 116986724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116968192 116971256 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116985681 116986067 Gain and loss Pancreatic cancer SNP array 17952125 chr6 116999275 117021129 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 116999275 117021129 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 116999276 117021125 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 116999276 117021125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 116999276 117021125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 116999367 117021121 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117005380 117005380 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 117044334 117060841 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 117044342 117060834 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 117044343 117060652 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117044343 117060834 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 117044343 117060834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117044343 117060834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117049120 117049220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 117050599 117050699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 117053900 117054691 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 117053900 117054691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117058908 117093378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 117063473 117096650 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 117063474 117096646 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117063474 117096650 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 117063474 117096650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117063474 117096650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1 170899992 Copy number Uveal melanoma Multiplex ligation-dependent probe amplification 21693616 chr6 1 170899992 Deletion,amplification,duplication Normal Affymetrix 250K SNP array 21412953 chr6 1 170899992 Deletion Biliary cancer Array CGH 19435499 chr6 1 170899992 Deletion Medulloblastoma SNP arrays 21979893 chr6 1 170899992 Gain Medulloblastoma SNP arrays 21979893 chr6 1 170899992 Indels Malaria PCR,Delta Delta Ct 21533027 chr6 1 170899992 Indels Normal Affymetrix 6.0 array 21223598 chr6 1 170899992 Loss Glioblastoma multiforme aCGH 21080181 chr6 117100000 118600000 Loss Non-small cell lung cancer - 21385341 chr6 117109043 117169722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 117109043 117169722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117109043 117169722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117109060 117169722 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117180052 117193579 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 117180054 117193567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 117180054 117193567 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117180054 117193579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117180054 117193579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117219941 117256891 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117219941 117256901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117219941 117256901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11724260 11724390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 117305069 117359993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117305069 117359993 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117305069 117359993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117325048 117716222 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 117330286 117330386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 117336716 117821284 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 117401319 117401394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 117450626 117450726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 117476526 117476694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117488538 117488655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117488539 117488656 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117488546 117488652 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11752286 11752562 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11752286 11752562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117537917 117710962 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 117537917 117733968 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 117655099 117792588 Amplification or deletion Cancer Array CGH 17440070 chr6 117670198 117670285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 117693414 117701421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117693414 117701421 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117693414 117701421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117716222 117853711 Gain or loss Breast cancer - 20668451 chr6 117716222 117853711 Gain or loss Cancer - 20668451 chr6 117716222 117853711 Gain or loss Lung cancer - 20668451 chr6 117716222 117853711 Gain or loss Ovarian cancer - 20668451 chr6 117716222 117853711 Gain or loss Pancreas cancer - 20668451 chr6 117716222 117853711 Gain or loss Prostate cancer - 20668451 chr6 117716223 117853711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117716223 117853711 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117716223 117853711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117727222 117727419 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117727222 117727419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117729306 117729499 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117729306 117729499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117729311 117729613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117752740 117989302 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 117773397 117773497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 117821284 118134828 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 117840306 117840406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 117859447 117860298 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11787739 11930337 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 117885590 117885694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117885590 117885698 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117899571 121878294 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 117910513 117997709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117910513 117997709 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117910513 117997709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117927004 117969218 Amplification or deletion Cancer Array CGH 17440070 chr6 117961200 119490957 LOH Normal High-resolution SNP genotyping 21211785 chr6 117961200 119491835 LOH Normal High-resolution SNP genotyping 21211785 chr6 117988125 118030374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 117988125 118030374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 117988128 118030341 Gain and loss Pancreatic cancer SNP array 17952125 chr6 117998332 117998400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118005508 118005608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118026914 118534496 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 118061339 118106444 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 118061562 118072943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118100669 118103140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118102153 118102236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118103310 118138577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 118103310 118138577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118103348 118137674 Gain and loss Pancreatic cancer SNP array 17952125 chr6 118116550 118116650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118134828 118448372 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 118175988 118195973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 11818038 11818179 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11818038 11818179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118184060 118191305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 118206573 119516214 LOH Normal High-resolution SNP genotyping 21211785 chr6 11821897 11887052 Gain and loss Pancreatic cancer SNP array 17952125 chr6 11821897 11915239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 11821897 11915239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118236508 118236608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118246088 119675233 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 118248156 118248238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118254785 118254885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118261362 118293636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 118332915 118333003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118335583 118745521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 118335583 118745521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118344422 118344522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118378327 118411515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 118379055 118379155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118426832 118427304 Gain and loss Pancreatic cancer SNP array 17952125 chr6 118448372 119474516 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 118473301 118473401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118482581 118482681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118500000 126100000 Copy number Breast cancer Real-time reverse transcription-PCR 18698023 chr6 118500000 126100000 Deletion Mental retardation Affymetrix GeneChip Human Mapping 250K Nsp Array 18854857 chr6 118500000 171115067 Gain Leukemia RQ-PCR 18688285 chr6 118500915 118501015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118508300 119490957 LOH Normal High-resolution SNP genotyping 21211785 chr6 118562084 118562169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118566292 119290266 LOH Normal High-resolution SNP genotyping 21211785 chr6 118582298 118745521 Gain and loss Pancreatic cancer SNP array 17952125 chr6 118585527 118585627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118600000 126200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 118600000 126200000 Copy number Normal - 21701786 chr6 118600000 126200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 118600000 126200000 Duplication Intellectual disability - 22045946 chr6 118600000 126200000 Loss Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr6 118600000 126200000 Loss Non-small cell lung cancer - 21385341 chr6 118600000 130400000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 118625965 118626129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118741330 118741430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 11876400 11876500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1188176 1188276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118838161 118967398 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 118880325 118882848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 118880325 118882848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118892932 119137924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 118892932 119137924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118893161 119080376 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1189094 1189429 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 118916942 118917042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118929822 118930274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 118929822 118930274 Gain and loss Pancreatic cancer SNP array 17952125 chr6 118929822 118930274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118930477 118931687 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 118930477 118931687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118968276 118994240 Gain and loss Pancreatic cancer SNP array 17952125 chr6 118976134 118988280 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 118976165 118988276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 118976165 118988276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 118986778 118986936 Gain and loss Pancreatic cancer SNP array 17952125 chr6 118998090 118998190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 118999292 118999377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 119016926 119017490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119050161 119067152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 119067447 119067497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 119101408 119211399 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 119118981 119120609 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 119146159 119147100 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 119153836 121366266 LOH Normal High-resolution SNP genotyping 21211785 chr6 119190574 119190674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 119210680 119210971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119220511 119253593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 119224123 119224223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 119241321 119298002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 119241321 119298002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119242690 119243100 Gain and loss Pancreatic cancer SNP array 17952125 chr6 119254643 119297978 Gain and loss Pancreatic cancer SNP array 17952125 chr6 119256901 119272105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 119256901 119272105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119263629 119270478 Gain and loss Pancreatic cancer SNP array 17952125 chr6 119273460 119298002 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 119319459 119319533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 119322697 119512051 Gain and loss Pancreatic cancer SNP array 17952125 chr6 119322697 119512057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 119322697 119512057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119393947 119394047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 119415437 119415511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 11941952 11987222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 119420744 119420835 Gain and loss Pancreatic cancer SNP array 17952125 chr6 119420744 119420835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119420744 119420838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119431911 119432007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119459203 119459530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 119522161 119522340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119532516 119532616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 119540965 119712625 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 119540968 119712625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 119540968 119712625 Gain and loss Pancreatic cancer SNP array 17952125 chr6 119540968 119712625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119631997 119632578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119634799 121424299 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 119652298 119652397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 119690140 119690249 Gain and loss Pancreatic cancer SNP array 17952125 chr6 119690145 119690249 Gain and loss Pancreatic cancer SNP array 17952125 chr6 119690145 119690249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 11969845 11971189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 119749515 119749610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 119769 170792391 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 119769 197772 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 119769 983795 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 119836675 119881335 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 119883506 121775476 LOH Normal High-resolution SNP genotyping 21211785 chr6 120049519 120049585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120113615 120113688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 12011423 12011734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 120134617 120134717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120176413 121660900 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 120194527 120194627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120237099 120342585 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 120237099 120342585 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 1 2024940 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-537K arrays 21546498 chr6 120254486 120254553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 12027403 12027503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120314807 120314907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120316069 120486210 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 120380188 120380266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120380255 120380355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120380406 120380506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120417677 120444729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 120484299 120484389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120568049 120568262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120568245 120568378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120568248 120568461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120570146 120766100 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 120593254 120593354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120599677 120609945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 120625131 120625246 Gain and loss Pancreatic cancer SNP array 17952125 chr6 120625131 120625246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 120652877 120652977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120700669 120700769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120705980 120706080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120711154 120711231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120728514 120728649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120728702 120728903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12073356 12073476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 120736258 120836788 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 120790463 120793922 Loss Normal 244K array 17666407 chr6 120815314 120821105 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 120889139 120889245 Gain and loss Pancreatic cancer SNP array 17952125 chr6 120889139 120889245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 120970381 120971229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121013276 125310333 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 121014994 121023138 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 12101981 12102185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12102167 12102389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121023138 121044115 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 121025447 121050579 Deletion Nasopharyngeal cancer PennCNV 20548289 chr6 121049466 121049557 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121049466 121049587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121049467 121049568 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121077693 121077755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121077697 121077859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121144065 121144357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 12120557 12273217 Gain and loss Pancreatic cancer SNP array 17952125 chr6 12120557 12273218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 12120557 12273218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121220799 121220942 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121263000 130387000 Deletion Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr6 121263000 130387000 Deletion Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr6 121263000 130387000 Deletion Leukemia Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr6 121276648 121276732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121305390 121305622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121352375 121352475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121360992 121361315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121381804 121381904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121442326 121697343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 121442326 121697343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121443082 121680440 Gain and loss Pancreatic cancer SNP array 17952125 chr6 12152696 12153024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 12152707 12152988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 12156242 12355596 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr6 121601452 121601552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121617756 121617856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121661265 121858774 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 121671517 121671618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121717199 121717302 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121717199 121717305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121741642 121741743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121741644 121741743 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121744317 121744705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121771387 121771639 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121771387 121771639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121790445 121791188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121798443 121812572 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 121798443 121812572 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 121798444 121812572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 121798444 121812572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121798487 121812571 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121805108 121805202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121809000 125021000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 chr6 121816823 121816965 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121816826 121816966 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121816826 121816966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121829220 121864753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 121837269 121842045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121839143 121839753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121841544 121842680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121850632 121850858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121856370 122848520 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 121860922 122017262 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 12186853 12186953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 121891693 121893615 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 121905328 121905471 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121905331 121905471 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121905331 121905471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121943177 121943366 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121943177 121943366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 121943181 121943366 Gain and loss Pancreatic cancer SNP array 17952125 chr6 121997201 122001900 Deletion Glioma mate-paired sequence 20126413 chr6 122003854 122004051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122016648 122017535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122018062 122657393 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 122042817 122043304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122045770 122047111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122122057 122125117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 122128315 123295546 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 122130053 122130110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122132455 122134669 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 122158852 122158896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122181816 122181916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12218494 12218574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122200834 122210632 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 122221096 122221608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122221 209214 Copy number Lung cancer paired-end sequencing 18438408 chr6 122295930 122296030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122343343 122343661 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 122349035 122397004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 122358529 122361738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 122368060 122368115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122393348 122393448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122538219 122538319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122574493 122574647 Gain and loss Pancreatic cancer SNP array 17952125 chr6 122574493 122574656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122574493 122574724 Gain and loss Pancreatic cancer SNP array 17952125 chr6 122660233 122711531 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 122720234 122782173 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 122762494 122795810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 122762494 122795810 Gain and loss Pancreatic cancer SNP array 17952125 chr6 122762494 122795810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122765634 122925836 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 122784137 123166297 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 122806195 122834725 Gain and loss Pancreatic cancer SNP array 17952125 chr6 122806195 122948968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 122806195 122948968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122834760 123089217 Deletion Intellectual disability 100k SNP Array 21811512 chr6 122834761 123089217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 122834761 123089217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122876992 122877092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122914632 123841038 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 122916108 122916203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 122979805 122980007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122979995 122980224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 122991512 122991612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1 2300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 1 2300000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr6 1 2300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 1 2300000 Gain Barrett's adenocarcinoma FISH 18663352 chr6 1 2300000 Gain Prader-willi syndrome SignatureChip OS2.0 manufactured for Signature Genomic Laboratories 20588305 chr6 1 2300000 Loss and deletion Multiple myeloma Array CGH 16616336 chr6 123015574 123089216 Gain and loss Pancreatic cancer SNP array 17952125 chr6 123108100 123108405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 123108184 123108352 Gain and loss Pancreatic cancer SNP array 17952125 chr6 123108184 123108352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 123138050 123138109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123142345 123146915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 123142345 123146915 Gain and loss Pancreatic cancer SNP array 17952125 chr6 123142345 123146915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 123152120 123172561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 123152120 123172561 Gain and loss Pancreatic cancer SNP array 17952125 chr6 123152120 123172561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 123167056 123214382 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 123172367 123172596 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 123193557 123193619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123215221 123395622 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 123222522 123222832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 123251233 125408147 Loss Bladder cancer array-CGH 21909424 chr6 123348384 123348484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123358813 123426925 Gain and loss Pancreatic cancer SNP array 17952125 chr6 123358813 123427311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 123358813 123427311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 123382556 123382656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123396502 123488302 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 123415581 123415916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 123486811 123493143 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 123497875 124876558 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 123514079 123548001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 123519024 123519112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123534 999006 Copy number Lung cancer paired-end sequencing 18438408 chr6 123556758 123557073 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 123579182 123999937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 123579182 123999937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 123581445 123999816 Gain and loss Pancreatic cancer SNP array 17952125 chr6 123590775 123590869 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1 23628840 Amplification Cancer Affymetrix 250K Sty array 20164920 chr6 123757318 123757418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123801753 123801853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123805116 123805420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 123824904 123825004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123853824 123853924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123853936 123854166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123870374 123898312 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 123872881 123875711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 123892635 123893456 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 123901852 126846948 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 12391323 12391423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 123942680 123942780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12398599 12404286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 12398645 12404757 Gain and loss Pancreatic cancer SNP array 17952125 chr6 124033729 124768189 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 124067859 124067949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124103278 124103376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 124166985 125188502 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 124166985 125188502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 124166985 125188502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 124166988 125188483 Gain and loss Pancreatic cancer SNP array 17952125 chr6 124216461 124216550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124223650 124225982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 124269055 124269143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12427671 12427810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 124300093 124300193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124302825 124302925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12433255 12433300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124359160 124359233 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 12437378 12437478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124379082 124526687 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr6 124389608 125123150 LOH Normal High-resolution SNP genotyping 21211785 chr6 124420763 124420855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124467336 124510591 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr6 124477177 124477271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124540606 124540928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 124558474 124558574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124619272 124619372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124644252 124689012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1246546 1246592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124803348 124803826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 124865294 124865498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124865519 124865721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124877066 125329260 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 124878556 124878666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 124880286 124880386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1249111 1249237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 124958437 125003251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 124970486 124970586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124977521 124977621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 124984287 126253352 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 12501266 12502174 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 12507086 12507131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125073234 125688256 LOH Normal High-resolution SNP genotyping 21211785 chr6 125085817 125085905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125114118 125114150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125115942 125115974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12514702 12514999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 12514704 12514999 Gain and loss Pancreatic cancer SNP array 17952125 chr6 12514704 12514999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 125227711 125227791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 125318001 125319500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 125346213 125446563 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 125346213 125446563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 125346213 125446563 Gain and loss Pancreatic cancer SNP array 17952125 chr6 125346213 125446563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 125371782 125372734 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 12539865 12540865 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr6 12540640 12541640 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr6 125412438 126196906 LOH Normal High-resolution SNP genotyping 21211785 chr6 125421192 125421420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125421415 125421619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125439510 125484101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1 25446000 Copy numberLOH Colorectal cancer 50 K SNP array 21297112 chr6 125516578 125627252 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 125516617 125626337 Gain and loss Pancreatic cancer SNP array 17952125 chr6 125516684 125627252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 125516684 125627252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 12551720 13035212 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 125535682 125535782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125541294 125541394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125578741 125629122 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 125599195 125599295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125603566 127459706 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 125617337 125617437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125628667 127128657 LOH Normal High-resolution SNP genotyping 21211785 chr6 125630589 126918273 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 125638195 125664981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 125638195 125664981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 125638195 125664981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 125638381 125638866 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 125638731 125664820 Gain and loss Pancreatic cancer SNP array 17952125 chr6 125692126 125692225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125722115 127128657 LOH Normal High-resolution SNP genotyping 21211785 chr6 125750449 125753051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1257674 1259993 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr6 1257675 1259981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 1257675 1259981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 1257675 1259981 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1257675 1259981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 125858677 125858766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125889623 125889723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 125901415 125901515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126110503 126124108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 126110503 126124108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126112424 126124108 Gain or loss Breast cancer - 20668451 chr6 126112424 126124108 Gain or loss Cancer - 20668451 chr6 126112424 126124108 Gain or loss Lung cancer - 20668451 chr6 126112424 126124108 Gain or loss Ovarian cancer - 20668451 chr6 126112424 126124108 Gain or loss Pancreas cancer - 20668451 chr6 126112424 126124108 Gain or loss Prostate cancer - 20668451 chr6 126112566 126124110 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126144000 126293949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 126144000 126293949 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126144000 126293949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126175733 126175811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126186977 127086986 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-549K arrays 21546498 chr6 126187144 126200796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 126200000 127300000 Loss Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 chr6 126200000 130400000 Deletion Breast cancer high-resolution aCGH 21958427 chr6 1 262118 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 126215724 127057643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-548K arrays 21546498 chr6 12622292 12622993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 12622292 12622993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 12622328 12622942 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126224738 126229029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 126225385 126228469 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 126238007 126238227 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126238007 126238227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126238007 126238321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126283189 127954747 LOH Normal High-resolution SNP genotyping 21211785 chr6 126319553 126343082 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 126319564 126343056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 126319564 126343056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126319564 126343080 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126342719 126342773 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126342719 126342773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126349268 126402113 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 126349269 126402115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 126349269 126402115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126349304 126402111 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126366557 126366657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126424796 127234107 LOH Normal High-resolution SNP genotyping 21211785 chr6 126509701 126509937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 126512537 126512630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126527665 126642922 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 12654540 13005284 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr6 126582428 127882428 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 126620760 126621187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126620760 126621301 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1266270 1266370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126661192 126661262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126696031 126730143 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 126702946 126711447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 126702946 126711447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126723431 126723523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126847470 126847552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126874426 126874526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126953096 126953196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 126953126 126953231 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126953126 126953232 Gain and loss Pancreatic cancer SNP array 17952125 chr6 126953126 126953232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 126965191 126966490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127006479 127007138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127012888 127012943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127017725 127017825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127045874 127046679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127045928 127046679 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1 270514 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 127063828 127063928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127065029 129281787 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 127100000 130300000 Deletion Cancer Array CGH 17440070 chr6 127100000 130300000 Loss Mental retardation Array CGH 17847001 chr6 12717721 12717821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12725308 12725630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 127300000 130400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 127300000 130400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 127300000 130400000 Gain Barrett's adenocarcinoma FISH 18663352 chr6 127322638 127322738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127328929 128185047 LOH Normal High-resolution SNP genotyping 21211785 chr6 127335708 127335808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127379937 127380069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127433537 128617247 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 127440047 127518910 Copy number Cancer Affymetrix GeneChip Genome Wide Human SNP array 6.0 22207351 chr6 127459706 144593306 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 127481512 127560347 Gain and loss Pancreatic cancer SNP array 17952125 chr6 127481749 127560347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 127481749 127560347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127501633 127501735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127579354 128200969 LOH Normal High-resolution SNP genotyping 21211785 chr6 127598182 127598282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127629448 127651405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 127629448 127651405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127629689 127651405 Gain and loss Pancreatic cancer SNP array 17952125 chr6 127629712 127651197 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 127651550 127706447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 127651550 127706447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127651552 127706418 Gain and loss Pancreatic cancer SNP array 17952125 chr6 127680719 127680811 Gain and loss Pancreatic cancer SNP array 17952125 chr6 127680719 127680811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127718639 127719627 Gain and loss Pancreatic cancer SNP array 17952125 chr6 127718639 127719627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 12772175 12772496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 127725351 127726241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127779376 127779781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127798474 127799024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127803181 127838552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 127803181 127838552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127806232 127879452 Gain and loss Pancreatic cancer SNP array 17952125 chr6 127813023 127879540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 127813023 127879540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127830350 127830450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127854330 127854430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127860437 128960864 LOH Normal High-resolution SNP genotyping 21211785 chr6 127892982 127893077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1279323 1279358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127940012 127954651 Gain and loss Pancreatic cancer SNP array 17952125 chr6 127940012 127954655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 127940012 127954655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127943729 127943829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127952249 127987285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 12795754 12795829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 127979761 127981410 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 127987106 127998160 Gain and loss Pancreatic cancer SNP array 17952125 chr6 127995821 127998159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 127996067 127996135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 128017698 128018000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 128017698 128018000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128022528 128023417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128065879 128263896 Gain and loss Pancreatic cancer SNP array 17952125 chr6 128070910 128281435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 128070910 128281435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128072598 128072928 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 128126 28999747 Gain or loss Breast cancer - 20668451 chr6 128126 28999747 Gain or loss Cancer - 20668451 chr6 128126 28999747 Gain or loss Lung cancer - 20668451 chr6 128126 28999747 Gain or loss Ovarian cancer - 20668451 chr6 128126 28999747 Gain or loss Pancreas cancer - 20668451 chr6 128126 28999747 Gain or loss Prostate cancer - 20668451 chr6 128172268 128172368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 128180634 128180734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1281857 30146087 Copy number Lung cancer - 20668451 chr6 1281857 30146087 Gain or loss Breast cancer - 20668451 chr6 1281857 30146087 Gain or loss Cancer - 20668451 chr6 1281857 30146087 Gain or loss Lung cancer - 20668451 chr6 1281857 30146087 Gain or loss Ovarian cancer - 20668451 chr6 1281857 30146087 Gain or loss Pancreas cancer - 20668451 chr6 1281857 30146087 Gain or loss Prostate cancer - 20668451 chr6 12825819 13396624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 12825819 13396624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128264112 128960864 LOH Normal High-resolution SNP genotyping 21211785 chr6 12826528 13381134 Gain and loss Pancreatic cancer SNP array 17952125 chr6 128273827 128274791 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 128331624 128883416 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr6 128331625 128883416 Gain and loss Pancreatic cancer SNP array 17952125 chr6 128331627 128883453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 128331627 128883453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128355189 128389518 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 128388698 129210372 LOH Normal High-resolution SNP genotyping 21211785 chr6 128388698 129575220 LOH Normal High-resolution SNP genotyping 21211785 chr6 128440025 129126536 LOH Normal High-resolution SNP genotyping 21211785 chr6 128440356 128440435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 128461130 128472072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 128518395 128518475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128548531 128548564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12861893 12861989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128636467 128636567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 12864068 12864168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 128706079 128706179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 128830312 128830406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 128869204 128871248 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 128869471 128871282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 128869961 131665897 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 128883885 128886524 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 128922773 128922873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 128942951 128943722 Gain and loss Pancreatic cancer SNP array 17952125 chr6 128942951 128943722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128947228 128947327 Gain and loss Pancreatic cancer SNP array 17952125 chr6 128947228 128947329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 128976039 128976143 Gain and loss Pancreatic cancer SNP array 17952125 chr6 128976039 128976143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129002026 129002491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129018041 129018257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 129021667 129021767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 129031510 129031843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 129050244 129071927 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 129061477 129061563 Gain and loss Pancreatic cancer SNP array 17952125 chr6 129061477 129061563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129072146 129644140 LOH Normal High-resolution SNP genotyping 21211785 chr6 129072146 129760845 LOH Normal High-resolution SNP genotyping 21211785 chr6 129074221 129074290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 129084328 129119192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 129120328 129120426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 129124555 129124646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129124557 129124646 Gain and loss Pancreatic cancer SNP array 17952125 chr6 129124558 129124646 Gain and loss Pancreatic cancer SNP array 17952125 chr6 129147389 129515904 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 129243876 129867407 LOH Normal High-resolution SNP genotyping 21211785 chr6 129245979 129879401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 129245979 129879401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129246035 129879401 Gain and loss Pancreatic cancer SNP array 17952125 chr6 129270657 129862088 LOH Normal High-resolution SNP genotyping 21211785 chr6 129270657 129907725 LOH Normal High-resolution SNP genotyping 21211785 chr6 129291837 129292827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129292469 129292802 Gain and loss Pancreatic cancer SNP array 17952125 chr6 129315361 129484648 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 129347306 129387885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 129351934 129389429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 129359801 129369300 Deletion Glioma mate-paired sequence 20126413 chr6 129361209 129367267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1294579 12979403 Copy number Autism exome sequencing 22495311 chr6 129520367 129521960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129529394 129672047 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 129542724 129543172 Loss Normal 244K array 17666407 chr6 129657 137105 Deletion Normal Standard GISTIC 21527027 chr6 129767842 129767948 Gain Normal 244K array 17666407 chr6 129768810 129769235 Gain Normal 244K array 17666407 chr6 129772822 129773321 Gain Normal 244K array 17666407 chr6 129778764 129779077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 129779114 129781030 Gain Normal 244K array 17666407 chr6 129782284 129828284 Loss Normal 244K array 17666407 chr6 129818520 129851117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 129828057 129828237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 129856211 129856327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129856235 129856327 Gain and loss Pancreatic cancer SNP array 17952125 chr6 129859758 129859858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 129864386 129864486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 129920913 129921007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 129938970 130073063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 129938970 130073063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 129939932 130073063 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 129939939 130073063 Gain and loss Pancreatic cancer SNP array 17952125 chr6 129966550 129966650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 129972412 129972825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 130018995 130019095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130031319 130936295 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 130078654 130078754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130090822 130090922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130110570 130110659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130119159 130119962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130146615 130146883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130155575 130317668 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 130163763 130164501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130182514 130183009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130194082 130224109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13024215 13066503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 13025819 13063824 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr6 130300000 161000000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr6 130300000 171115067 Loss Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr6 130369205 130369379 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 130369251 131063505 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 130381426 130504278 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 130381427 130503312 Gain and loss Pancreatic cancer SNP array 17952125 chr6 130381427 130504275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 130381427 130504275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130400000 131300000 Deletion Brain cancer GeneChip Mapping 10K 2.0 Array 19584924 chr6 130400000 131300000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr6 13040160 16259718 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-542K arrays 21546498 chr6 130451236 130451336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130482046 130482125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130507153 130728238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 130507153 130728238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130507156 130585792 Gain and loss Pancreatic cancer SNP array 17952125 chr6 130522186 130522286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130541452 131500475 LOH Normal High-resolution SNP genotyping 21211785 chr6 130614610 130614798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130653475 130653507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130710564 130710644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130728572 130805901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 130728572 130805901 Gain and loss Pancreatic cancer SNP array 17952125 chr6 130728572 130805901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130731882 132068374 LOH Normal High-resolution SNP genotyping 21211785 chr6 130733940 130734025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130741051 130741241 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 130756201 130756270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13077567 13077667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130838582 130838655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130870157 131527306 LOH Normal High-resolution SNP genotyping 21211785 chr6 130921862 130966543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 130936834 130936950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 130936836 130936950 Gain and loss Pancreatic cancer SNP array 17952125 chr6 130941519 130941619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 130971118 131737074 LOH Normal High-resolution SNP genotyping 21211785 chr6 131001088 131001407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 131076244 131076285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131086753 131086853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131101186 131101286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131109939 131110019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131113108 131113268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131113163 131113280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131128279 131128377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1 31148785 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr6 131200000 135200000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr6 131202180 131426017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 131202180 131426017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 131202183 131426058 Gain and loss Pancreatic cancer SNP array 17952125 chr6 131221 614506 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 131300000 135200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 131300000 142900000 Loss Glioblastoma multiforme conventional CGH 21080181 chr6 131300000 164400000 Loss Renal cell carcinoma Affymetrix GeneChip Human Mapping 10K Array 18592004 chr6 131328234 131328269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131343527 131399866 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 131350848 131384290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1313658 13147161 Copy number Autism exome sequencing 22495311 chr6 131459696 131460665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 131482222 131482300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 131508154 131646366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 131508154 131646366 Gain and loss Pancreatic cancer SNP array 17952125 chr6 131508154 131646366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 131547158 131548319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13158896 13158955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1 31618907 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 131632230 131632330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131677031 131710837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 131685544 131685644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 131726100 131726170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 13172783 13172836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 131755861 131755959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1317586 30188846 Gain or loss Breast cancer - 20668451 chr6 1317586 30188846 Gain or loss Cancer - 20668451 chr6 1317586 30188846 Gain or loss Lung cancer - 20668451 chr6 1317586 30188846 Gain or loss Ovarian cancer - 20668451 chr6 1317586 30188846 Gain or loss Pancreas cancer - 20668451 chr6 1317586 30188846 Gain or loss Prostate cancer - 20668451 chr6 131831853 131832401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 131936058 131947161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 131936058 131947161 Gain and loss Pancreatic cancer SNP array 17952125 chr6 131936058 131947161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 131936801 131991056 Gain and loss Pancreatic cancer SNP array 17952125 chr6 131936801 131991062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 131936801 131991062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132000135 132110232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132000135 132110232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132000135 132110240 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13200 17100 Copy number Lymphoma KC-SMARTR 21070656 chr6 132005649 132005799 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132045386 132045486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132061022 132078839 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr6 132061306 132074234 Loss Normal Quantitative PCR 18989455 chr6 132063302 132064234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132063302 132064234 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132063302 132064234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132071517 132073028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132071517 132073850 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132073197 132074015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132123684 132123905 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 132143501 132144145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132143590 132178286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 132148294 132150482 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 132148295 132150478 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 132148313 132150449 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 132148313 132160223 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 132155921 132160242 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 132155922 132160241 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 132170475 132170697 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr6 132170853 132254043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132170853 132254043 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132170853 132254043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132182645 132182924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132183167 132183451 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132183167 132183486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132183167 132183496 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132188814 132189080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132190467 132190847 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132281928 132282028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132301017 140131597 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr6 132305177 132305277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13230862 13254490 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 132311009 132314147 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132311009 132314211 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 132311014 132314211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132311014 132314211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132320293 132320431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132320431 132320654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132321497 132563205 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 13233923 13236944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 132378704 132378755 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 132416888 132420581 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 132416911 132418599 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 132417263 132420688 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 132451352 132451452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132454960 135096061 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 132498636 132498781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132634814 132636164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132654857 132654957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132658886 132764357 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 132658887 132764357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132658887 132764357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132658901 132764290 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132659748 132659848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132739322 132739644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 132747307 132755733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 132749239 132754115 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 132749344 132754170 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 1327501 1339500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 132751050 132754736 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 132751050 132754736 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 132752524 132754000 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 132765178 132765278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132767798 132767898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132818427 133099487 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 132820747 132875928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132820747 132875928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132822848 132875859 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132822988 132823218 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 13285336 27536138 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr6 13285391 13303119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 132881662 132882127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13288987 13751583 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 13288987 14769909 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 13289708 13311798 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 132901120 132902168 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132901122 132902163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132901122 132902163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132915525 132916553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132915525 132916553 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132915525 132916553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132919808 132919898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 132933154 132934191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132933154 132934191 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132933154 132934191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132951505 132952518 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132951505 132952915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132951505 132952915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132957230 132958268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132959124 133374834 In Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr6 132971079 132972108 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132971079 132972108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132979982 132980902 Gain and loss Pancreatic cancer SNP array 17952125 chr6 132979982 132987107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 132979982 132987107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 132989228 132989328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13300000 17800000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr6 133007816 133008835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 133007816 133008835 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133007816 133008835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133037717 133038215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133038382 133038472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133044421 133076881 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr6 133044429 133076881 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133044438 133076881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 133044438 133076881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133060000 170770000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr6 133061615 133062499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133085621 133097596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 133085621 133097596 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133085621 133097596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133106703 133126291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 133106703 133126291 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133106703 133126291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133110205 133110305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133132200 133161440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 133132200 133161440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133132202 133161384 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133151510 133151610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133159912 133160113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133160004 133160120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133160108 133160238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133160111 133160291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133176096 133176181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133177374 133180396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 133177374 133180396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133177403 133180393 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133178139 133178211 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133178139 133178211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133179634 133179709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133180051 133180180 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133180051 133180180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133180051 133180183 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133181303 136905317 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 13322267 13322430 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13322267 13322430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133231050 133231691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133240740 133240840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133279568 133279668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133300204 133300304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133353358 133398393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133360402 133360872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133360402 133360882 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133363789 133363889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133380216 133396011 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133381198 133390739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133381401 133391500 Deletion Glioma mate-paired sequence 20126413 chr6 133381860 133396442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133381984 133416241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133382605 133401375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133383213 133383313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133383514 133389578 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 13339399 13339680 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 133413181 133413524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 133445121 133445221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133450912 133469400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 133486412 133669057 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 1335067 1340832 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr6 1335068 1340831 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 1335068 1340831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 1335068 1340831 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1335068 1340831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133513399 133513649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133517138 133517204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 133518408 133518508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133526041 133556257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133574501 133574601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133595996 133641031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133604188 133894358 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 133604188 133894358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 133604188 133894358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133604206 133892353 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133635636 133635859 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133635636 133635859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 133636664 133636764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133637408 133637498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133714121 133749004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 13374753 13436755 Gain and loss Pancreatic cancer SNP array 17952125 chr6 133755812 133789325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 133787244 133789040 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 133787244 133789040 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 133787462 133789055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 133865556 133865635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 133873217 133873524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13387506 13403797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13389171 13405084 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1339501 1549500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 133962742 133962830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133969414 133969514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 133981181 133981261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134000000 142000000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr6 13400000 46200000 Gain Cancer References 16790693 chr6 134021658 134021758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134039560 134040260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134048382 134048431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134066117 134066200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134074982 134075032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 134080762 134116063 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 13413165 13448166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 13413165 13448166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134183978 134216821 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1341901 1342001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134196219 134196346 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 134196240 134196367 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 134215528 134215628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134251969 134258368 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 134251969 134258368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 134251969 134258368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134251970 134258368 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134258908 134259341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134308601 134313400 Deletion Glioma mate-paired sequence 20126413 chr6 134310670 134311417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 134310674 134311405 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 134315994 134350320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 134315994 134350320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 134315994 134350320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134315994 134350322 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134339003 134339101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134349964 134415466 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 134349964 134415466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 134349964 134415466 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134349964 134415466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134350036 134350126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134371090 134579141 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 134395237 134395302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 134457748 134457841 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134457748 134457841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134477426 134478321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13448228 13448282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134496404 134496696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134496404 134496699 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13451051 31618907 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 134523658 134528818 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 134532076 134680889 Gain or loss Breast cancer - 20668451 chr6 134532076 134680889 Gain or loss Cancer - 20668451 chr6 134532076 134680889 Gain or loss Lung cancer - 20668451 chr6 134532076 134680889 Gain or loss Ovarian cancer - 20668451 chr6 134532076 134680889 Gain or loss Pancreas cancer - 20668451 chr6 134532076 134680889 Gain or loss Prostate cancer - 20668451 chr6 134532083 134680291 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 134532083 134680291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 134532083 134680291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134532084 134537695 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134569245 134569345 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134569245 134569345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134571269 134656723 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 134592448 134598896 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 chr6 134592448 134598896 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 chr6 134592448 134598896 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 134619866 134619974 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134619866 134619974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134619866 134619975 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134624037 134648067 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 134624587 134680889 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134631119 134636149 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 134631431 134637075 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 134631431 134637075 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 134633903 134634184 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 134645923 134646022 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134645923 134646024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134645924 134646022 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134650643 134650732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134659833 134661588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13466041 13595766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 13466041 13595766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134662367 136140796 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 134665824 134752836 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 134687082 134687176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13471798 13595766 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134755973 134756340 Gain and loss Pancreatic cancer SNP array 17952125 chr6 134755973 134756731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 134755973 134756731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134819522 134819618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 134859039 134859355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 134929610 135508819 LOH Normal High-resolution SNP genotyping 21211785 chr6 134929610 135508851 LOH Normal High-resolution SNP genotyping 21211785 chr6 134966395 134967532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 134994611 135050073 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 135000000 139780000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr6 13500000 15500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 13500000 15500000 Copy number Normal - 21701786 chr6 13500000 29900000 Gain Breast cancer array-CGH 22032731 chr6 13500000 45200000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chr6 135013187 135023874 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 135037474 135037741 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135037474 135037741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135061 7137785 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr6 135101251 139048099 Loss Mucosa-associated lymphoid tissue lymphomas arrayCGH 21459788 chr6 135113491 135163570 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 135120443 135120543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135124474 135665112 LOH Normal High-resolution SNP genotyping 21211785 chr6 135129981 136266574 LOH Normal High-resolution SNP genotyping 21211785 chr6 135173257 136266574 LOH Normal High-resolution SNP genotyping 21211785 chr6 135179039 135179127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135186589 135230707 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 135192212 136022860 LOH Normal High-resolution SNP genotyping 21211785 chr6 135197333 135197433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135200000 139000000 Gain T-cell acute lymphoblastic leukemia A 4K BAC-PAC Array CGH 17452517 chr6 135200000 139100000 Amplification Urothelial cell carcinoma FISH 18451213 chr6 135200000 139100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 135200000 139100000 Copy number Normal - 21701786 chr6 135200000 139100000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr6 135200000 139100000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 chr6 135200000 139100000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr6 135200000 139100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 135200000 139100000 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr6 135200000 139100000 Gain Chondromyxoid Fibroma Array CGH 20696777 chr6 135200000 139100000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr6 135200000 161000000 Loss Malignant melanoma BAC array CGH 17260012 chr6 135200000 170899992 Deletion Normal - 21541734 chr6 135237374 136266907 LOH Normal High-resolution SNP genotyping 21211785 chr6 135260705 135261584 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135260705 135261590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135266128 135311575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 135276414 135996377 LOH Normal High-resolution SNP genotyping 21211785 chr6 135279809 135996377 LOH Normal High-resolution SNP genotyping 21211785 chr6 135280222 135312937 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 135280222 135312937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 135280222 135312937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135280222 135312946 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135318389 135574497 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 135323216 135417715 Amplification T-cell lymphomas Array-CGH 22341440 chr6 135323216 135417715 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135323218 135417715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 135323218 135417715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 135323218 135417715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135328238 135328338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135329424 135329758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 135374306 135558489 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr6 135410024 135477391 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr6 135416061 135491008 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 135419040 135983555 LOH Normal High-resolution SNP genotyping 21211785 chr6 135432529 135775516 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 135456961 135996377 LOH Normal High-resolution SNP genotyping 21211785 chr6 1354617 1356076 Copy number Autism exome sequencing 22495311 chr6 135477610 136276652 LOH Normal High-resolution SNP genotyping 21211785 chr6 135502452 135540311 Gain Leukemia RQ-PCR 18688285 chr6 135502452 135540313 Gain Spitz naevi FISH 22211292 chr6 13550677 13550782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135527395 135561319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 135536849 135536949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135544145 135582003 Amplification Adenocarcinoma FISH 19001599 chr6 135544145 135582003 Amplification Non-small cell lung cancer FISH 19001599 chr6 135544145 135582003 Amplification Squamous cell cancer FISH 19001599 chr6 135544145 135582003 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chr6 135544145 135582004 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 135544146 135582002 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 135544146 135582002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 135544146 135582002 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135544146 135582002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135544146 135582003 Amplification T-cell lymphomas Array-CGH 22341440 chr6 135555189 135763913 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chr6 135556000 135714000 Amplification Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr6 135561194 135665525 Amplification Cancer Affymetrix 250K Sty array 20164920 chr6 135576016 135576115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135580308 136240147 LOH Normal High-resolution SNP genotyping 21211785 chr6 135580308 136265488 LOH Normal High-resolution SNP genotyping 21211785 chr6 135581202 136240147 LOH Normal High-resolution SNP genotyping 21211785 chr6 135589594 136171462 LOH Normal High-resolution SNP genotyping 21211785 chr6 135589594 136288892 LOH Normal High-resolution SNP genotyping 21211785 chr6 135601991 135602087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135626752 136259090 LOH Normal High-resolution SNP genotyping 21211785 chr6 135646817 135871912 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 135646817 135871912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 135646817 135871912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135646818 135860576 Amplification T-cell lymphomas Array-CGH 22341440 chr6 135646818 135860576 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135650579 135652612 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 135696639 135696739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135701895 135701995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135717425 135717525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13577490 13594394 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13577492 13594394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 13577492 13594394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135837335 135837440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135837337 135837440 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135837338 135837440 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135851378 135851478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13591912 13591968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 135945664 135948278 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 135981996 135982130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 135982008 135983002 Gain and loss Pancreatic cancer SNP array 17952125 chr6 135999043 135999544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13601018 13612524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 13605644 13615424 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 136057200 136057299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13606865 13613457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 136158199 136160452 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 136170614 136170714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 136176442 136176539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 136180051 170881221 Loss Prostate cancer Array CGH 18632612 chr6 136184000 145784000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 136195424 136195524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 136214527 136558402 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 136214527 136558402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 136214527 136558402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136214543 136555646 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136214543 136558309 Amplification T-cell lymphomas Array-CGH 22341440 chr6 13626664 13635187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 136266872 136266961 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 136277309 136277618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136282309 136294906 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 13629477 13630256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136317438 136347055 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 136323537 136347055 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 136325920 136347055 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 136334515 136363238 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 136340642 136340734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13635369 13635469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 136366915 136367043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 136397343 136397648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136397401 136397624 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136402440 136991928 LOH Normal High-resolution SNP genotyping 21211785 chr6 136443260 137239358 LOH Normal High-resolution SNP genotyping 21211785 chr6 136534490 136534590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13655915 13656167 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13655915 13656224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13655915 13656236 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136593861 136613142 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 136593861 136613142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 136593861 136613142 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136593861 136613142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136619694 136652682 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 136621419 136652682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 136621419 136652682 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136621419 136652682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136623946 136624094 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136624309 136630992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136628871 137625487 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 136631171 136632267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136632443 136634824 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136639338 136640693 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136641600 136642591 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136645518 136652542 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136663871 136871791 Deletion Prostate cancer aCGH 22341455 chr6 136673684 136673754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136680826 136681067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136705566 136913485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 136705566 136913485 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136705566 136913485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136726960 136727293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136766999 136767094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 136782685 136783258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136803945 136858183 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 13682812 13720499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 13682812 13720499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13682812 13720503 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136838684 136838975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136868119 136869453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136893369 136894616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136893395 136894645 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 136893395 136894645 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 136919879 137155349 Gain or loss Breast cancer - 20668451 chr6 136919879 137155349 Gain or loss Cancer - 20668451 chr6 136919879 137155349 Gain or loss Lung cancer - 20668451 chr6 136919879 137155349 Gain or loss Ovarian cancer - 20668451 chr6 136919879 137155349 Gain or loss Pancreas cancer - 20668451 chr6 136919879 137155349 Gain or loss Prostate cancer - 20668451 chr6 136919884 137155349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 136919884 137155349 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136919884 137155349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 136920041 137261041 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr6 136922190 136922244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 136950519 136950599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 136993071 136993159 Gain and loss Pancreatic cancer SNP array 17952125 chr6 136993071 136993186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137000000 138440000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr6 137000000 139350000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr6 137034714 137034814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137069560 138543093 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 1370952 1371052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13718503 13718598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137185416 137276752 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 137185416 137276752 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137185416 137276752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137207502 137207602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137218529 137218662 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137218529 137218662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137218530 137218662 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13723538 13729105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 13723538 13729105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13723555 13729917 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137263209 137263997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137263215 137263982 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13728431 13729100 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137285095 137288467 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 137285095 137288467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137285260 137287527 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13729714 13819932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 13729714 13819932 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13729714 13819932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137297596 137297695 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137297596 137297697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137355389 137355881 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 137362801 137407991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 137362801 137407991 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137362801 137407991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137413240 137413340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137430261 137460049 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 1374339 1374439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137477190 137477287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137501221 137615031 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 137506651 137536478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 137506651 137536478 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137506651 137536478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137549175 137604042 Loss Normal 244K array 17666407 chr6 137560322 137582239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 137560322 137582239 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137560322 137582239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137560501 137560638 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137600154 137600254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137659990 137660090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137661293 137669906 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 137705921 137706021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137734812 137734847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1377652 13718516 Copy number Autism exome sequencing 22495311 chr6 137768551 137768651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137776444 137776544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137815457 137815532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137835885 137867851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 137843825 137843920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137850501 137861500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 137855022 140711307 Duplication Acute myeloid leukemia - 21251322 chr6 137855032 137857080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 137855032 137857080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137856182 137857000 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137890423 137890523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137906727 137907202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 137906733 137907272 Gain and loss Pancreatic cancer SNP array 17952125 chr6 137914018 137962674 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 13791901 13792001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137923450 137923550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 137966749 139159362 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-520K arrays 21546498 chr6 138044330 170770193 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 138061450 138061550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138068253 138070031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138085396 138117964 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 138102945 138103024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138104475 138104575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138111104 138616328 Copy number Lung cancer paired-end sequencing 18438408 chr6 138136891 139336891 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 138137000 147737000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 138147204 138147314 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138147204 138147316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138164707 138164807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138167684 138806971 LOH Normal High-resolution SNP genotyping 21211785 chr6 138212257 138246010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 138224184 138225028 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 138230151 138246135 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138230273 138246142 Copy number Lung cancer - 20668451 chr6 138230273 138246142 Gain or loss Breast cancer - 20668451 chr6 138230273 138246142 Gain or loss Cancer - 20668451 chr6 138230273 138246142 Gain or loss Lung cancer - 20668451 chr6 138230273 138246142 Gain or loss Ovarian cancer - 20668451 chr6 138230273 138246142 Gain or loss Pancreas cancer - 20668451 chr6 138230273 138246142 Gain or loss Prostate cancer - 20668451 chr6 138230273 138246142 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 138230274 138246135 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 138230274 138246135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 138230274 138246135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138354935 138355990 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 138358100 138358977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138358519 138358746 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138359388 138404820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 138362875 138366348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 138392277 138392377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13840257 13840355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138409641 138428660 Loss Follicular lymphoma Affymetrix 50K-XbaI oligonucleotide SNP chip 17699855 chr6 138423262 138425251 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 138453612 138470279 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138453619 138470280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 138453619 138470280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138458527 138968155 LOH Normal High-resolution SNP genotyping 21211785 chr6 138459950 138460019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138494071 138494171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1385151 1385218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138524745 138707488 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 138524917 138701629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 138524917 138701629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138533855 138534227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 138569924 138701629 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138580818 138581225 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138580818 138581225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138585395 138585470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138593365 138638288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 138595458 138628437 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 138598256 138598356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138609054 138609137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 138630538 170899992 Copy number Lung cancer paired-end sequencing 18438408 chr6 138630965 138631053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1386762 1386859 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 138704094 138704448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138704094 138707441 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138725241 138725313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138756203 138756374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138765419 138766391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 138765419 138766391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138767029 138776275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 138767029 138776275 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138767029 138776275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138784876 138934741 Gain and loss Pancreatic cancer SNP array 17952125 chr6 138784876 138934741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 138807144 138807223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138818107 140110815 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 138835786 138880763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 138857701 138857766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138898829 138898929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138984285 138984385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 138989429 138989747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 138989429 138989748 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 13899000 13922768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13899000 13922779 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139000000 142800000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 chr6 139000000 149000000 Loss Endocrine pancreatic tumor Array CGH 17914106 chr6 139000000 152500000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr6 139000000 161000000 Amplification Soft tissue tumor 32k BAC microarrays 16732325 chr6 139013056 139013803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139100000 142900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 139100000 142900000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 chr6 139100000 142900000 Duplication Intellectual disability - 22045946 chr6 139100000 170899992 Gain Glioblastoma multiforme aCGH 21080181 chr6 139117485 139117585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139136339 139156149 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139136350 139156147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 139136350 139156147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139150613 139183583 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 139158950 139266900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 139158950 139266900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139166833 139311688 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 139185577 139186629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 139185577 139186629 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139185577 139186629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139221857 139221963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139221860 139221963 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139241882 139242091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139267312 139351091 Gain or loss Breast cancer - 20668451 chr6 139267312 139351091 Gain or loss Cancer - 20668451 chr6 139267312 139351091 Gain or loss Lung cancer - 20668451 chr6 139267312 139351091 Gain or loss Ovarian cancer - 20668451 chr6 139267312 139351091 Gain or loss Pancreas cancer - 20668451 chr6 139267312 139351091 Gain or loss Prostate cancer - 20668451 chr6 139267314 139351091 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139267314 139351096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 139267314 139351096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139294524 139294720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139294722 139294822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139294722 139294953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139327420 139327484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139391512 139406132 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 139391512 139406132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139391535 139406132 Gain and loss Pancreatic cancer SNP array 17952125 chr6 13943002 13971722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 139449904 139450524 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139462378 170792391 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 139483194 139488013 Loss Normal 244K array 17666407 chr6 139485313 139485725 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139497934 139543630 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139497942 139543639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 139497942 139543639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139498246 139499174 Gain Normal 244K array 17666407 chr6 139532786 140904839 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 139602894 139654849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 139602894 139654849 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139602894 139654849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139643148 139670156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 139644130 139648760 Loss Normal 244K array 17666407 chr6 139644292 139648841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 139644789 139651291 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 139645272 139649006 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 139645272 139649006 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 139645272 139650297 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 139645272 139650297 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 139645437 139648424 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 139645516 139650297 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 139645516 139650297 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 139650455 139650487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 13968001 13969000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 139700877 139702410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 13970621 14117598 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 139707792 139707892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139735089 139737478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 139735089 139737478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139735095 139737450 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139861029 139861094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139862986 139870454 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr6 13990529 13991831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 13990531 13991835 Deletion small cell lung cancer array-CGH 20016488 chr6 139967932 139968027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139974265 139974340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 139977268 139977423 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139977268 139978034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 139979981 139980395 Gain and loss Pancreatic cancer SNP array 17952125 chr6 139995599 139995678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140016278 141101715 LOH Normal High-resolution SNP genotyping 21211785 chr6 140022758 140024337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 140040206 140040280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140060580 140089492 Gain and loss Pancreatic cancer SNP array 17952125 chr6 14019749 14019849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140280660 140313682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1402867 1402967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140289926 140290026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140306229 140306329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140322778 140322878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14033181 14088214 Gain or loss Breast cancer - 20668451 chr6 14033181 14088214 Gain or loss Cancer - 20668451 chr6 14033181 14088214 Gain or loss Lung cancer - 20668451 chr6 14033181 14088214 Gain or loss Ovarian cancer - 20668451 chr6 14033181 14088214 Gain or loss Pancreas cancer - 20668451 chr6 14033181 14088214 Gain or loss Prostate cancer - 20668451 chr6 14033182 14088212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 14033443 14088212 Gain and loss Pancreatic cancer SNP array 17952125 chr6 140416831 140421912 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 140417637 140417841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140417734 140417834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140417835 140418022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140421912 140429446 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 140422467 140433941 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 140429446 140432237 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 140432237 140440964 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 14050992 14051045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140537271 140668313 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 140544958 140545058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140553053 140597876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 140566081 140566166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14057305 14057676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 140600000 142500000 Loss Acute lymphoblastic leukemia - 21339820 chr6 140607055 140692520 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 14062611 15256340 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 140641733 140674699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 140698285 140698317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140711865 140812892 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 140761209 140761304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 140821691 141495156 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 140899700 140899774 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 140994584 140994871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 140999039 141099048 Loss Normal 244K array 17666407 chr6 141023453 141023543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 141096915 141097413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 141122607 141904460 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 141124359 141125089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 141133867 141134069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141134065 141134204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141153662 141153762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14117401 15255900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 141255937 141838233 LOH Normal High-resolution SNP genotyping 21211785 chr6 141285286 141285741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 141303201 141303301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141312806 141312906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141313590 141313690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141354060 143215691 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 141355074 141355174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14136549 14136634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141367401 141367726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 141379341 141379441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141414724 141414876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141414894 141415065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141419388 141421894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 141419389 141421893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 141433687 141433779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141457859 141471756 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr6 141519418 141552823 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 14154469 24219596 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 141580614 141580743 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 141588301 141593400 Deletion Glioma mate-paired sequence 20126413 chr6 141590318 141591721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 141590326 141591658 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 141591851 141591909 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 141624770 141624870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141703651 143250974 LOH Normal High-resolution SNP genotyping 21211785 chr6 141770680 141770883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141770873 141771060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141770886 141770986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141848929 141849242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 141849003 141849242 Gain and loss Pancreatic cancer SNP array 17952125 chr6 141849003 141849242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 141849171 141849321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 141981954 141983072 Gain and loss Pancreatic cancer SNP array 17952125 chr6 141998553 141999355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 142016011 142050192 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 142072518 142096379 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 142080532 143426554 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 142085020 142092427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 142091310 142091410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142107189 142143922 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 142107189 142146472 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 142113136 142114038 Gain and loss Pancreatic cancer SNP array 17952125 chr6 142160000 170830000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 chr6 142162612 142162903 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1421987 1422087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142223441 142254094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 14225843 14245082 Gain and loss Pancreatic cancer SNP array 17952125 chr6 14225843 14245127 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 14225844 14245128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 14225844 14245128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 142334921 142910328 LOH Normal High-resolution SNP genotyping 21211785 chr6 1423438 1423552 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 142348184 142348284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142385667 142426589 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 142397533 142397633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142435665 142435748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142438437 142451629 Gain or loss Breast cancer - 20668451 chr6 142438437 142451629 Gain or loss Cancer - 20668451 chr6 142438437 142451629 Gain or loss Lung cancer - 20668451 chr6 142438437 142451629 Gain or loss Ovarian cancer - 20668451 chr6 142438437 142451629 Gain or loss Pancreas cancer - 20668451 chr6 142438437 142451629 Gain or loss Prostate cancer - 20668451 chr6 142438438 142451629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 142438438 142451629 Gain and loss Pancreatic cancer SNP array 17952125 chr6 142438438 142451629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 142470824 142470924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142479039 142512815 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 142485956 142506064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 142489336 142489436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142490620 142490720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142495989 142497752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 142496876 142496976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142503516 142503616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142510087 142583776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 142510087 142583776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 142510093 142583776 Gain and loss Pancreatic cancer SNP array 17952125 chr6 142591725 142636653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 142632831 143189471 LOH Normal High-resolution SNP genotyping 21211785 chr6 14264671 14264732 Gain and loss Pancreatic cancer SNP array 17952125 chr6 142664759 142809078 Gain and loss Pancreatic cancer SNP array 17952125 chr6 142664759 142809096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 142664759 142809096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 14278110 16364022 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 142800000 145600000 Deletion Colorectal cancer PCR 16912164 chr6 142847792 142847942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142887646 142887746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142900000 145700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 14290872 14290972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142941835 142941935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142977280 142977380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 142999953 143000053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1 430556 Deletion Normal Arbitrated Peel-off 21527027 chr6 1 430556 Deletion Normal GeneGISTIC 21527027 chr6 1 430556 Deletion Normal Standard peel-off 21527027 chr6 143106391 143106483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 143114297 143308031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 143114297 143308031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143114299 143137675 Gain and loss Pancreatic cancer SNP array 17952125 chr6 143138536 143138621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143144401 143144501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143146606 143146673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14316654 14316753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143178356 143178395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143189218 143189318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143203128 143203210 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 143245128 143245228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143260848 143260948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143291787 143299036 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 143341 150947 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 143344894 143344994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143357 346084 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 143357 346084 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 143357 352978 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 143357 352978 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 143357 522691 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 143357 598718 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 143423716 143703134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 143423716 143703134 Gain and loss Pancreatic cancer SNP array 17952125 chr6 143423716 143703134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143583673 146047566 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 143617218 143617308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143620217 143831379 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 143641147 143976339 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 143641147 143976339 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 143641147 143980171 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 143641147 143980171 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 143641147 143988746 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 143641147 143988746 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 143648624 143652960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 143661600 143662332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143690105 143690485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143705076 143706213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143727638 143727713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143753121 143753206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143788771 143813517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 143788771 143813517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143789821 143813488 Gain and loss Pancreatic cancer SNP array 17952125 chr6 143799046 143799540 Gain and loss Pancreatic cancer SNP array 17952125 chr6 143799046 143799540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143812639 143812719 Gain and loss Pancreatic cancer SNP array 17952125 chr6 143812639 143812719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143812639 143812741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143813637 143852834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 143813637 143852834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143813810 143852834 Gain and loss Pancreatic cancer SNP array 17952125 chr6 143837203 143837257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143853323 143854197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143857642 143874548 Gain and loss Pancreatic cancer SNP array 17952125 chr6 143857935 143874556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 143857935 143874556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143951370 143951551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 143956289 144673892 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 143958314 144121669 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 143965930 143997606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 143971010 144194014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 143971010 144194014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 143999470 144008329 Loss Normal 244K array 17666407 chr6 14400381 14400461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144011485 144011529 Gain Normal 244K array 17666407 chr6 144017747 144017818 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144035745 144035813 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144074839 144186519 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144084545 144627577 LOH Normal High-resolution SNP genotyping 21211785 chr6 144108558 144108648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144109699 144143721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 14413380 14413613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 144141338 144778980 Amplification Breast cancer FISH 17142309 chr6 144142259 144142312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144178569 144214005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 144206201 144226632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 144206201 144226632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144206201 144226634 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144206810 144206910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144216437 144409106 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 144227317 144300549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 144227317 144300549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144228772 144257655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 144238147 144241571 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 144247133 144261521 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144262913 144263005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144303129 144427428 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr6 144303129 144427428 Deletioneted Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr6 144303129 144427428 Neutral Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr6 144303130 144371234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 144303130 144371234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144303132 144371246 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144303867 144303952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144342014 144387505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 144375926 144376010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144393846 144417316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 144399568 144400528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144457711 144458403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 144457711 144458403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144458067 144458327 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144499280 144499605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144503739 145358376 LOH Normal High-resolution SNP genotyping 21211785 chr6 144513362 144551194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 144513362 144551194 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144513362 144551194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144549216 145991965 Deletion Normal Arbitrated Peel-off 21527027 chr6 144549216 145991965 Deletion Normal GeneGISTIC 21527027 chr6 144549216 145991965 Deletion Normal Standard peel-off 21527027 chr6 144563277 144563795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144563283 144563795 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144565822 144565922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144585197 144585297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144619863 144620453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144654566 145215859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 144654566 145215859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144654658 145209662 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144657157 145700429 LOH Normal High-resolution SNP genotyping 21211785 chr6 144676706 145712410 LOH Normal High-resolution SNP genotyping 21211785 chr6 144679421 144679521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 144733713 144733868 Gain and loss Pancreatic cancer SNP array 17952125 chr6 144733713 144733868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144760794 144761581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 144819070 144859045 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 14488051 14489296 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 144902582 146047566 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 144946957 144947057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 145027317 145689047 LOH Normal High-resolution SNP genotyping 21211785 chr6 145033634 145629670 LOH Normal High-resolution SNP genotyping 21211785 chr6 145033634 146891173 LOH Normal High-resolution SNP genotyping 21211785 chr6 145043167 145043267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1450510 4809580 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 145069562 145069876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 145070956 145071333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 145091086 145114144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 145169385 145169710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 14518297 14518397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1 45200000 Gain Ewing's sarcoma CGH(Reference) 21437220 chr6 1 45200000 Gain Follicular lymphoma aCGH 20505157 chr6 1 45200000 Loss Glioblastoma multiforme aCGH 21080181 chr6 1452267 1452367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1452556 1452836 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1452556 1452836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 145267054 145267264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 145267279 145267379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 145389224 145401944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 145420272 145420372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 145422457 145422557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14542469 14542538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 145435644 145435715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 145481890 145481990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 145511577 146783517 LOH Normal High-resolution SNP genotyping 21211785 chr6 145522349 152476914 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 145700000 149100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 145700000 149100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 145711587 145711678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 145711763 146807635 LOH Normal High-resolution SNP genotyping 21211785 chr6 145747160 145748214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 145747164 145747459 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 145747463 145748218 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 145764952 145796608 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 145826067 145826228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 145826068 145826228 Gain and loss Pancreatic cancer SNP array 17952125 chr6 145826070 145826228 Gain and loss Pancreatic cancer SNP array 17952125 chr6 145834553 146791649 LOH Normal High-resolution SNP genotyping 21211785 chr6 145841703 145852542 Loss Autism qPCR 20531469 chr6 145841703 145857642 Loss Autism qPCR 20531469 chr6 145852459 145854921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 145860356 145860453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1458935 1460523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 145931957 145932087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 145988141 146098684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 145988141 146098684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 145988141 146098815 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1460540 1460606 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 146136351 146136417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146150892 146150992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146153907 146154512 Gain and loss Pancreatic cancer SNP array 17952125 chr6 146153907 146154512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146160967 146177582 Gain and loss Pancreatic cancer SNP array 17952125 chr6 146160969 146177614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 146160969 146177614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146206538 147030429 LOH Normal High-resolution SNP genotyping 21211785 chr6 146227152 146327252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 146227152 146327252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146236378 146326926 Gain and loss Pancreatic cancer SNP array 17952125 chr6 146254286 146270528 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 14633828 14633928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14634950 16548202 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 146367019 146367119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146390474 146800424 Copy number Lung cancer - 20668451 chr6 146390474 146800424 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 146390474 146800424 Gain or loss Breast cancer - 20668451 chr6 146390474 146800424 Gain or loss Cancer - 20668451 chr6 146390474 146800424 Gain or loss Lung cancer - 20668451 chr6 146390474 146800424 Gain or loss Ovarian cancer - 20668451 chr6 146390474 146800424 Gain or loss Pancreas cancer - 20668451 chr6 146390474 146800424 Gain or loss Prostate cancer - 20668451 chr6 146390474 146800424 Insertion Cerebellar ataxia References 22138850 chr6 146390609 146800427 Gain and loss Pancreatic cancer SNP array 17952125 chr6 146390611 146800427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 146390611 146800427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146415719 146429249 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 146470466 146470556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14647896 14647989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14653276 14653365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146534221 146534676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146575969 149887343 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 146657076 146694047 Duplication Attention deficit hyperactivity disorder - 22138692 chr6 146680752 146680856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146701212 146701492 Loss Normal 244K array 17666407 chr6 146703251 146703338 Gain and loss Pancreatic cancer SNP array 17952125 chr6 146703251 146703338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146703256 146703347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146727751 146728257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146768262 146768362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146794146 146794241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1468145 1468233 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1468145 1468233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146815688 146815788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146827807 146860175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 146903733 146903806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146903873 146903973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 146906521 146917781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 146906521 146917781 Gain and loss Pancreatic cancer SNP array 17952125 chr6 146906521 146917781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146912623 146917015 Copy number Cancer CGH 20581869 chr6 146918085 147540124 LOH Normal High-resolution SNP genotyping 21211785 chr6 146961829 147178288 Gain and loss Pancreatic cancer SNP array 17952125 chr6 146961829 147178291 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 146961829 147178291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 146961829 147178291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 146974224 147569714 Copy number Lung cancer paired-end sequencing 18438408 chr6 146992754 146992854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 147002529 147002652 Gain and loss Pancreatic cancer SNP array 17952125 chr6 147002533 147002635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 147011968 147525250 LOH Normal High-resolution SNP genotyping 21211785 chr6 147079125 147079451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 147091704 147091804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 147150448 147150498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 147166250 147166651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 147225207 147225307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 147252370 147261512 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 147291519 147291607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 147459339 147459439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 147470129 147496064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 147472640 147472740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 147489720 147489782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 14754745 14754848 Gain and loss Pancreatic cancer SNP array 17952125 chr6 14754745 14754848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 147566568 147748584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 147566568 147748584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 147566568 147748584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 147567111 147748584 Gain and loss Pancreatic cancer SNP array 17952125 chr6 147584641 167964056 Copy number Lung cancer paired-end sequencing 18438408 chr6 147605096 147605195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 147619339 148255353 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 147667050 147706364 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 147675812 147795002 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 147769717 147771033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1477801 1481400 Deletion Glioma mate-paired sequence 20126413 chr6 147813852 147813952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 147871756 147932850 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 147871756 147932850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 147871756 147932850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 147873221 147873321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 147912199 170792391 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 147927935 147929382 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 147967444 170914576 Deletion Esophageal cancer affymetrix genechip human mapping 269K Nsp arrays 21851588 chr6 147975955 147978093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 148046453 148088923 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 148061516 148061616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148130089 148130360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 148153658 148153758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148163568 148163610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148169055 148340813 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 148185684 148214725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 148195801 148195911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148214708 148244950 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 148282475 148672637 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 148291939 148292009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148313 151392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 148313 151392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 148335679 148368119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 14847452 14848951 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 14847757 15652668 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-516K arrays 21546498 chr6 14851201 14855500 Deletion Glioma mate-paired sequence 20126413 chr6 14853261 14853657 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 148538028 148538080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 148548008 148548141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 148569445 148569545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148635133 148914877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 148635133 148914877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 148641501 148641607 Gain and loss Pancreatic cancer SNP array 17952125 chr6 148641501 148641607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 148705421 148914877 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 148705422 148914877 Gain and loss Pancreatic cancer SNP array 17952125 chr6 148744778 148744872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148796591 148797409 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 148801940 148802162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148802024 148802163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148826162 148826262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148841603 148843592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 148849761 148849891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 148856348 148862531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 148897307 148897407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 148897516 148928607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 148907154 148907154 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr6 148930207 148930483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 148995744 149040617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 149000000 152500000 Amplification Breast cancer Affymetrix 10K SNP array 17417639 chr6 149000000 161000000 Amplification Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 chr6 149000000 161000000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr6 149000000 171115067 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 chr6 149000000 171115067 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr6 149000000 171115067 Loss Breast cancer Microarray-based CGH 17133270 chr6 149010529 149011423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149041336 149761596 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 149047136 149047201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 149100000 152600000 Alterations Breast cancer Deregulation Analysis in Networks of Copy number-driven Expressions 21804112 chr6 149100000 152600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 149100000 152600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 149100000 152600000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 chr6 149100000 152600000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 chr6 149100000 160900000 Amplification Breast cancer FISH 20556506 chr6 149100000 160900000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr6 149100000 160900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr6 149100000 170899992 Loss Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 chr6 149110165 149439818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 149110165 149439818 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149110165 149439818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 14916096 14916148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 149309345 149311970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149333222 149333301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 149346133 149346233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 149362421 149362641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 14946165 31605815 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr6 149474841 149475501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 14958028 14958103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 149600820 149616287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 149654181 149654445 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149654181 149654445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149654181 149654475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149666936 149667257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149674472 149674637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 149680756 149774442 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 149680756 149774442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149705642 149774440 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149718459 149727407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 149735391 149753733 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 149763188 149763870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 149763188 149763870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149770287 149770387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 149787501 149848500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 149789740 149834765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 149793694 149793741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 149810628 149847723 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149812991 150191917 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-522K arrays 21546498 chr6 149813485 149847890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149841658 150345702 LOH Normal High-resolution SNP genotyping 21211785 chr6 149846544 150436246 LOH Normal High-resolution SNP genotyping 21211785 chr6 149854399 149855118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149867324 149908864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 149867324 149908864 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149867324 149908864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149879786 149879845 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149879786 149879846 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149905776 149946488 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr6 149929103 149953748 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149929234 149954120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 149929234 149954120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149956913 149957372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149957454 149957587 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149957454 149957588 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149957454 149957588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149957702 150011543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 149957702 150011543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 149957706 150011470 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149957864 150011543 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 149987883 150187883 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 149988000 159588000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 149994266 149994376 Gain and loss Pancreatic cancer SNP array 17952125 chr6 149994266 149994378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150012350 150094687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150021155 150093197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150023743 150081085 Gain or loss Breast cancer - 20668451 chr6 150023743 150081085 Gain or loss Cancer - 20668451 chr6 150023743 150081085 Gain or loss Lung cancer - 20668451 chr6 150023743 150081085 Gain or loss Ovarian cancer - 20668451 chr6 150023743 150081085 Gain or loss Pancreas cancer - 20668451 chr6 150023743 150081085 Gain or loss Prostate cancer - 20668451 chr6 150023744 150081085 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150023744 150081085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150023750 150094165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150027153 150092789 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150027918 150095501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150028166 150096451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150028258 150092515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150028589 150096581 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150029037 150092007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150044595 150778453 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 150067759 150067853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150087147 150109507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150087147 150109507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150089507 150131506 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150092369 150146433 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 150112273 150174249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150112273 150174249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150112657 150174249 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 150137573 150159802 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150158274 150158571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150163029 150224666 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150181627 150227173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150181627 150227173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150203254 151365607 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 150232048 150277594 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150242810 150244349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150251014 150253863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150251014 150253863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150252295 150252539 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 150256656 150256736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150258001 150325500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 150259445 150780376 LOH Normal High-resolution SNP genotyping 21211785 chr6 150267069 150269246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150274901 150275918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150274901 150275918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150276744 150332758 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150278281 150285907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150278281 150285907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150293284 150294619 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150297738 150304211 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150298754 150299609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150298754 150299609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150304829 150312059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150314644 150315532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150325501 150329500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 150326836 150336537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150326836 150336537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150327921 150328046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 150329501 150507000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 150340300 150341934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150340754 150341242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150344351 150344497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 150350390 150350472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150355250 150362480 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150355269 150355312 Gain Normal 244K array 17666407 chr6 150362917 150367986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150377257 150386958 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150381163 150388361 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150381163 150388361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150391172 150391663 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150395598 150396395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150405375 150406189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150425979 150431924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150425979 150431924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150427435 150431895 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 150431811 150453773 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150433380 150438721 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150455796 150456610 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150477857 150482316 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150505379 150613182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150505379 150613182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150505880 150613221 Gain or loss Breast cancer - 20668451 chr6 150505880 150613221 Gain or loss Cancer - 20668451 chr6 150505880 150613221 Gain or loss Lung cancer - 20668451 chr6 150505880 150613221 Gain or loss Ovarian cancer - 20668451 chr6 150505880 150613221 Gain or loss Pancreas cancer - 20668451 chr6 150505880 150613221 Gain or loss Prostate cancer - 20668451 chr6 150527413 150527515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150556347 150663603 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150563697 150598592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150577834 150577936 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150590872 150590912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150592089 150592189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150596419 150596473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150604450 150619709 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150610 2144947 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 150610 47433570 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 150629829 150629979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150631668 150631738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150635256 150635356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150637836 167322720 Gain Developmental delay affymetrix genechip 500K/SNP 6.29 array 21147756 chr6 150653167 150664204 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 150685128 150689534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 150689452 150689592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150706852 150706975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150722842 150722942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150731721 150771032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150731721 150771032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150732484 150744865 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 150739870 150740013 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150739873 150740013 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150747136 150747949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150757273 150757396 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150764342 150764630 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 150782142 150817878 Gain and loss Pancreatic cancer SNP array 17952125 chr6 150800 2382544 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 150809240 153468625 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 150848368 150848468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150867640 150873129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 150891960 150892060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150941759 150941849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 150962691 151206492 Copy number Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr6 150962692 151206492 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 150962692 151206492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151016764 151089630 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 151120549 151154642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 151190492 151191213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151217895 151256913 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151228384 151464714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 151228384 151464714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151240913 151241634 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151278805 151515129 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151297797 151298395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151302055 151302157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15130560 15171143 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 151340020 151472562 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 151340363 151340463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 151341100 158838876 Loss Developmental delay affymetrix genechip 500K/SNP 6.30 array 21147756 chr6 151352472 151352572 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151352476 151352574 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151380322 151546953 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 151399271 151443755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 151402745 151402800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151462154 151462243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 151462358 151462762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151546801 151556000 Deletion Glioma mate-paired sequence 20126413 chr6 151548320 151554176 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 151548320 151554176 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 151548355 151554077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 151564169 151564273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151588378 151588775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151599381 151623139 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 151603201 151719602 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 151603202 151719601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 151603202 151719601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151613995 152865246 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 151614590 151614694 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151638799 151639196 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151653623 151770022 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151682463 151682778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151712092 151712182 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151712093 151712182 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151726944 151754370 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 151726944 151754370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151732884 151733213 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151732912 151733135 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151736311 151737683 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 151740828 151740927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151755396 151788193 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 151767682 151815009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 151767682 151815009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151774104 151774666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151776458 151776881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151777365 151804791 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151791251 151791348 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151805890 152531243 Amplification Breast cancer FISH 17142309 chr6 151815115 151832925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 151815115 151832925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151818103 151865373 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151856916 151984020 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 151856916 151984020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 151865536 151883346 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151868607 151868707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 151895709 152085900 Insert Cancer ultra-high resolution array CGH 21272361 chr6 151907341 152034441 Gain and loss Pancreatic cancer SNP array 17952125 chr6 151926501 152053000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 151931000 161531000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 151931400 170831400 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 151978601 151978707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15200000 105500000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr6 15200000 25200000 Amplification Bladder cancer References 16790693 chr6 15200000 25200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr6 15200000 30400000 Amplification Retinoblastoma References 16790693 chr6 15200000 30400000 Copy number Chronic lymphocytic leukemia References 18645599 chr6 15200000 36600000 Gain Esophageal adenocarcinoma MLPA 18820669 chr6 15200000 46200000 Copy number Systemic lupus erythematosus TaqI Southern blots 17503323 chr6 152029022 152029128 Gain and loss Pancreatic cancer SNP array 17952125 chr6 152053323 152466101 Copy number Lung cancer - 20668451 chr6 152053323 152466101 Gain or loss Breast cancer - 20668451 chr6 152053323 152466101 Gain or loss Cancer - 20668451 chr6 152053323 152466101 Gain or loss Lung cancer - 20668451 chr6 152053323 152466101 Gain or loss Ovarian cancer - 20668451 chr6 152053323 152466101 Gain or loss Pancreas cancer - 20668451 chr6 152053323 152466101 Gain or loss Prostate cancer - 20668451 chr6 152053323 152466101 Loss Breast cancer array CGH 21552322 chr6 152053324 152466099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 152053324 152466099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15211156 15212421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 152168214 152168692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 152170506 152466101 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 152204227 152204270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 15221173 15221431 Gain and loss Pancreatic cancer SNP array 17952125 chr6 15221173 15221431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15221178 15221429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 152218635 152219113 Gain and loss Pancreatic cancer SNP array 17952125 chr6 152220800 152542850 Gain and loss Pancreatic cancer SNP array 17952125 chr6 152257656 152257740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152271966 152272038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 152297494 152297584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152322387 152322459 Gain and loss Pancreatic cancer SNP array 17952125 chr6 152333387 152333487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152362786 155321679 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr6 152374208 152374308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152431683 152433926 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 152434228 152434328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152447873 152447963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152484515 153000227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 152484515 153000227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 152497791 152608629 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 152521244 152826222 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr6 152530552 152530950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 152534937 153050648 Gain and loss Pancreatic cancer SNP array 17952125 chr6 152535452 152569477 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 15255293 15255376 Gain and loss Pancreatic cancer SNP array 17952125 chr6 15255293 15255376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 152555305 152555380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152600000 155600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 152600000 160900000 Deletion Developmental delay array-CGH 19459884 chr6 152600000 160900000 Deletion Hearing loss array-CGH 19459884 chr6 152600000 160900000 Deletion Microcephaly array-CGH 19459884 chr6 152600000 170899992 Gain Medulloblastoma SNP arrays 21979893 chr6 152647686 152647755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152652774 152652861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 152681080 152681188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152698706 152733672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 152703195 152703282 Gain and loss Pancreatic cancer SNP array 17952125 chr6 152744076 152744176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 152756405 152766908 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 152773103 152773222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15281825 15287610 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 15281825 15287610 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 152823524 152823643 Gain and loss Pancreatic cancer SNP array 17952125 chr6 152823524 152823645 Gain and loss Pancreatic cancer SNP array 17952125 chr6 152845031 153049495 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 152989053 152989126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153060723 153087406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 153060723 153087406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153068572 153068956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153069601 153077400 Deletion Glioma mate-paired sequence 20126413 chr6 153071665 153075482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153111152 153135872 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153113407 153128048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 153113626 153122589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 153113626 153122589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153119750 153119850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153120453 153131453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 153155406 153326844 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 153164047 153173012 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153169385 153169485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153179252 153179327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153207662 153207786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153221742 153221884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153239660 153239755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153252437 153252513 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153260821 153262136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153261262 153261363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153268446 153269432 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153292590 153306688 Gain Normal 244K array 17666407 chr6 153311683 153311790 Gain and loss Pancreatic cancer SNP array 17952125 chr6 15331503 16100229 Amplification Breast cancer FISH 17142309 chr6 153315604 153315697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153316014 153468625 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 153322105 153322466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153323933 153324033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153333350 153346407 Gain or loss Breast cancer - 20668451 chr6 153333350 153346407 Gain or loss Cancer - 20668451 chr6 153333350 153346407 Gain or loss Lung cancer - 20668451 chr6 153333350 153346407 Gain or loss Ovarian cancer - 20668451 chr6 153333350 153346407 Gain or loss Pancreas cancer - 20668451 chr6 153333350 153346407 Gain or loss Prostate cancer - 20668451 chr6 153333353 153346407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 153333353 153346407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153335656 153335740 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153339502 153339602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153350092 153365618 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 153350190 153365553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 153350190 153365553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153373550 153494077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 153373550 153494077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153383774 153396288 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153401784 153415974 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153415290 153415372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153423971 153544498 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153439271 153439371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153447021 153873249 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 153447021 154713469 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 153449942 153450000 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153522061 153522173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15354506 15630232 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 15354506 15630232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 15354506 15630232 Gain and loss Pancreatic cancer SNP array 17952125 chr6 15354506 15630232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153567694 153567772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 15357101 17279900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 153572469 153572594 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153572505 153572594 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153633199 153633385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153633370 153633601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153645112 153645587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 153645112 153645587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153674942 153675027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153695536 153695982 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153735688 154354980 LOH Normal High-resolution SNP genotyping 21211785 chr6 153783266 153783372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 153785998 153786051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153833688 153833792 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153833690 153833775 Gain and loss Pancreatic cancer SNP array 17952125 chr6 153858998 153859166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 15387303 15387378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153930435 153955400 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 153937641 153937741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 153974195 153974353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 153998201 154004800 Deletion Glioma mate-paired sequence 20126413 chr6 154000061 154003217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 154002467 154019754 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 154026320 154060070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 154028400 154028464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154028467 154028534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154028535 154029221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154029225 154029292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154029294 154029491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154029455 154030140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154030146 154030934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154030934 154031004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154031005 154031190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154031350 154031416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154031417 154031686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154031707 154032729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154044275 154044381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154062434 154713469 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 154078821 154078885 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154078888 154078955 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154079646 154079713 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154081355 154081425 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154081771 154081837 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154092397 154092497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154092504 154092631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154094696 154094802 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154094699 154094802 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154156362 158101395 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-512K arrays 21546498 chr6 154163673 154169933 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 1541848 1541928 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1541848 1541928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154218169 154218269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154229897 154386563 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 15423130 15423236 Gain and loss Pancreatic cancer SNP array 17952125 chr6 15423130 15423236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15423133 15423236 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154254151 154254251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1542567 1542667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154269604 154298892 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 154301261 154301854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1543157 2570302 Deletion Cancer Affymetrix 250K Sty array 20164920 chr6 15432577 15432682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15432580 15432682 Gain and loss Pancreatic cancer SNP array 17952125 chr6 15432581 15432682 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154354395 154385568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 154402135 154609693 Amplification Intellectual disability 100k SNP Array 21811512 chr6 154402136 154609693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 154402136 154609693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154411843 154411943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154452590 154660114 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154461132 154461232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154488608 154488929 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 154488608 154488929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 154517438 154719592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 154517438 154719592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154567859 154770013 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154579757 154580315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154582051 154582151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154586250 154586350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154636131 154669003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 154661245 154663294 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 154661682 154663196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 154678376 154691290 Loss Normal 244K array 17666407 chr6 154728210 154728485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 154742416 154742640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 154768003 154873445 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 154768003 154873445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154770722 154772707 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 154772999 154773099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154796509 154796609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154818547 154923906 Gain and loss Pancreatic cancer SNP array 17952125 chr6 154859142 154859339 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 154893810 154893842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154904195 154904295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 154912343 154913068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 154919000 155868000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 chr6 154924045 154924162 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 154939135 154939905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1549501 1570500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 15497156 15567913 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 15500000 23500000 Amplification Urothelial cell carcinoma FISH 18451213 chr6 15500000 23500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 15500000 23500000 Copy number Normal - 21701786 chr6 15500000 23500000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr6 15500000 23500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 15500000 23500000 Gain Ovarian cancer Affymetrix 20844748 chr6 15500000 23500000 Translocation Developmental delay FISH 19490664 chr6 15500000 29900000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 chr6 15500000 57200000 Amplification Urothelial carcinoma CGH and FISH 18382360 chr6 155005358 155013624 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 15502319 17052602 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 155069469 155070621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155096204 155196882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 155096204 155196882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155146625 155247303 Gain and loss Pancreatic cancer SNP array 17952125 chr6 155159932 155164728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 155188002 155188101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155195287 155551631 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 155207900 155208446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155210377 155210409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155210598 155217022 Loss Normal 244K array 17666407 chr6 155230471 158862598 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr6 155233196 155233296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155236685 155281473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 155238423 155238526 Gain and loss Pancreatic cancer SNP array 17952125 chr6 155238425 155238526 Gain and loss Pancreatic cancer SNP array 17952125 chr6 155244108 155244196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155342001 158302100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 155354028 155355864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 155411268 159732853 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 155428994 155429063 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 155453115 155620549 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 155453115 155620549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155466502 155466602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155500000 171115067 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr6 155520310 155673864 Gain and loss Pancreatic cancer SNP array 17952125 chr6 155529289 155529389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155543722 155588476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1555679 1559128 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr6 1555680 1557341 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1555680 1559126 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 1555680 1559126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 1555680 1559126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155600000 160900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 155600000 160900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 155600000 160900000 Duplication Splenic marginal zone lymphoma BAC CGH array 21957467 chr6 155605363 155605456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155620488 155677311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 155620488 155677311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155626838 155639371 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 155626839 155639373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 155626839 155639373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155648017 156620312 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 155670918 155727733 Gain and loss Pancreatic cancer SNP array 17952125 chr6 155677260 155689794 Gain and loss Pancreatic cancer SNP array 17952125 chr6 155729670 155729770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155758194 155818729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 155758194 155818729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 155791755 155791755 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr6 155801181 156656120 LOH Normal High-resolution SNP genotyping 21211785 chr6 155808615 155869150 Gain and loss Pancreatic cancer SNP array 17952125 chr6 155824352 155825595 Loss Normal 244K array 17666407 chr6 155846963 155847063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155868418 155879420 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 155872713 155872799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155899119 155899198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155959865 155961354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 155983779 155983879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155995631 155995731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 155995673 155995823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 156068212 156068274 Gain and loss Pancreatic cancer SNP array 17952125 chr6 156071068 157577252 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 156119879 156119979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 156130150 156144938 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 156177730 156177809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 156205761 156205847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 15624264 15647653 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 1562524 1563004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 1562524 1563004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 156282711 156282826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 156309623 156309705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15631020 15771250 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 15631020 15771250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 15631020 15771250 Gain and loss Pancreatic cancer SNP array 17952125 chr6 15631020 15771250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 156314745 156314815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 156390000 156610000 Loss Acute lymphoblastic leukemia - 21339820 chr6 156436053 156620312 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 156441867 156441949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 156475362 157734711 LOH Normal High-resolution SNP genotyping 21211785 chr6 156489105 156489182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 156531818 156565271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 156538381 156538481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 156636431 156636523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 156698540 156967182 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 156741576 156741650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 156747955 158027501 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 156747955 158821523 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 156785155 158489874 Loss Autism qPCR, Illumina 1M 20531469 chr6 156791998 156792068 Gain and loss Pancreatic cancer SNP array 17952125 chr6 156891340 156891440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1569039 2190845 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 1569040 2190845 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 1569040 2190845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 1569040 2190845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1569041 2190845 Gain and loss Pancreatic cancer SNP array 17952125 chr6 156910738 156910812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 156914449 156914537 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 156961159 156961233 Gain and loss Pancreatic cancer SNP array 17952125 chr6 156981279 157284185 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-530K arrays 21546498 chr6 1 57000000 Gain Basal cell lymphoma Array CGH 16317097 chr6 1 57000000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr6 157004343 157004724 Loss Normal 244K array 17666407 chr6 157006678 157006772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157024876 157025263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 157027090 157027187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157059257 157059357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157068763 157748361 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 157104935 157105009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157140756 157572093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 157140756 157572093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15714513 15714578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157191199 157622514 Gain and loss Pancreatic cancer SNP array 17952125 chr6 157205615 157205715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157222867 157928741 Loss Normal 244K array 17666407 chr6 157235840 170792391 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 157253364 157253455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157280924 157281012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157339120 157339895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 157353069 157398421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 157362667 157363828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 157397577 157397677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 15744451 15744551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157472090 157472189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1575757 1575857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157617542 157617582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157632650 157664781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 157632650 157664781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 157640332 157641031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 157683213 157715038 Gain and loss Pancreatic cancer SNP array 17952125 chr6 157690513 157691567 Gain and loss Pancreatic cancer SNP array 17952125 chr6 157700838 157700938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157707005 157707943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 157713576 157714191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 157721966 157722030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157722545 158014964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 157722545 158014964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 157757426 157758364 Gain and loss Pancreatic cancer SNP array 17952125 chr6 157772966 158065385 Gain and loss Pancreatic cancer SNP array 17952125 chr6 157820353 157820453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157828099 157828199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157847896 157847989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157877829 157878135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 157918107 157923297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 157939152 158004286 Loss Normal 244K array 17666407 chr6 157968544 157968657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157968734 157968934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 157992700 157992742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 158004286 158039959 Loss Normal 244K array 17666407 chr6 158020205 158020295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 15804872 15818499 Loss Normal 244K array 17666407 chr6 158051693 158051742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 158052965 158053110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158091666 158091736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 158103386 158103531 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158110456 158336518 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158130000 159420000 Gain Breast cancer aCGH 21509527 chr6 158135363 159188295 LOH Normal High-resolution SNP genotyping 21211785 chr6 158138083 158173365 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 158153338 158171175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 158164284 158286097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 158164284 158286097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158164557 158169921 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 158165009 158165143 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr6 158181079 158181174 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 158194210 158194310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 158250137 159409555 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 158265422 158265696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158266263 158266987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 158302101 160452600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 158307458 158352217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 158322907 158439556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 158322907 158439556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158361039 158361508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 158373328 158490613 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158413037 158435270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 158429026 158429085 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 158450537 158509290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 158450537 158509290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158466201 158471000 Deletion Glioma mate-paired sequence 20126413 chr6 158468255 158469054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 158500956 158559711 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158509371 158533364 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 158509380 158533432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 158509380 158533432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158509711 158509776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 15851190 158533364 Copy number Autism exome sequencing 22495311 chr6 158516004 158516090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158543516 158543832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 158559801 158583853 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158578356 158583817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158606064 158606112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 158629125 158629832 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158653680 158852842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 158653680 158852842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158704101 158903263 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158744636 158744708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158749000 159027663 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-524K arrays 21546498 chr6 158776638 158810898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 158778817 158779105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158778817 158779108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158787783 158787878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 158795057 158795129 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158796065 158796392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 158829238 158829529 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158856625 158857249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158869970 158895708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 15887494 15887558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 158877454 158976448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 158877454 158976448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15887856 15887930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 158927875 159026869 Gain and loss Pancreatic cancer SNP array 17952125 chr6 158950726 158962656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158967459 158969310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158977494 158985759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 158977494 158985759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 158991033 159105889 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 158991034 159105889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 158991034 159105889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159027919 159036180 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159042171 159042273 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 159043191 159156312 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159047107 159081442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 159066789 159067300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159106766 159160432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 159106766 159160432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159124420 159572115 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 159134798 159237500 Copy number Cancer CGH 20581869 chr6 159157190 159210804 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159159079 159160064 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr6 159166084 159166299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159178983 159179083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159182147 159198652 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 159182148 159198654 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 159182148 159198654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159204210 159204432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159204312 159204412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159204419 159204616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159210959 159251372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159233162 159233521 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159262289 159263170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159267486 159267591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159272721 159273766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 159285948 159585894 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 159313035 159313591 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159313089 160783098 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 159317300 159341207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 159317300 159341207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159368275 159391607 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159372920 159492244 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr6 159374836 159374900 Loss Normal 244K array 17666407 chr6 159375659 159375946 Loss Normal 244K array 17666407 chr6 159376017 159386172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 159376017 159386172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 15938068 15938168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159385420 159389361 Loss Normal 244K array 17666407 chr6 159388908 159389986 Loss Normal 244K array 17666407 chr6 159406278 159406378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159407443 159409269 Loss Normal 244K array 17666407 chr6 159426443 159436593 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159441722 159442939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 159454900 161225200 Loss Prostate cancer Array CGH 18632612 chr6 159454947 170881221 Loss Prostate cancer Array CGH 18632612 chr6 159467144 160018731 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-547K arrays 21546498 chr6 159510416 159613130 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 159510416 159613130 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 159510417 159613131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 159510417 159613131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159529397 159529497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159561038 159606576 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159572100 159572412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 159586752 159587074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 159601380 159874088 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 159619748 159619805 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 159621410 159663550 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159622545 159622641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159648562 159648642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 15967121 15999254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 159715060 159761792 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 159793292 159793377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159844625 159844657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159858233 159858333 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 159867070 159867550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 159912014 159912114 Insertion Non-syndromic sensorineural hearing loss - 22037309 chr6 159917503 159917935 Gain and loss Pancreatic cancer SNP array 17952125 chr6 159945891 159945891 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 159963101 159981467 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 15996318 15996386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 159974242 160185562 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 159978398 159980612 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160004601 160010700 Deletion Glioma mate-paired sequence 20126413 chr6 160012305 160012399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160019761 160185562 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 160020141 160034343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160020141 160034343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160023074 160081618 Gain Autism qPCR 20531469 chr6 160036501 160114800 Deletion Glioma mate-paired sequence 20126413 chr6 160053823 160055007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160057556 160058571 Loss or gain Normal 244K array 17666407 chr6 160061435 160061562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160061705 160061805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160068142 160097339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160068142 160097339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160070562 160084667 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160071638 160071958 Gain Normal 244K array 17666407 chr6 160103043 160120048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160103043 160120048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160111856 160111983 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160118540 160147760 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160119521 160130725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160119521 160130725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160121272 160121403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160126616 160126755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160131488 160139450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160131488 160139450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160141291 160161725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160146875 160146975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160153496 160170496 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160167226 160180050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 160170160 160180932 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160171693 160171824 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160177037 160177176 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160181909 160189871 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160191712 160212146 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160210663 160210733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160213141 162764456 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 160215599 160215744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160247963 160249097 Copy number Lung cancer - 20668451 chr6 160247963 160249097 Gain or loss Breast cancer - 20668451 chr6 160247963 160249097 Gain or loss Cancer - 20668451 chr6 160247963 160249097 Gain or loss Lung cancer - 20668451 chr6 160247963 160249097 Gain or loss Ovarian cancer - 20668451 chr6 160247963 160249097 Gain or loss Pancreas cancer - 20668451 chr6 160247963 160249097 Gain or loss Prostate cancer - 20668451 chr6 160247964 160249098 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160247964 160249098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160251141 160251240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160298384 160299519 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160310121 160447573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160310121 160447573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160335132 160367712 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 160342655 161205076 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 160358159 160544461 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr6 160360542 160497994 Gain and loss Pancreatic cancer SNP array 17952125 chr6 16042992 16043527 Gain and loss Pancreatic cancer SNP array 17952125 chr6 16042992 16043527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160431936 160432431 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 160434442 160435006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160452601 163488600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 160462852 160499740 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 160462853 160499734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160462853 160499734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160463658 160463758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16048064 16048164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160484525 160486340 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160495274 161525416 LOH Normal High-resolution SNP genotyping 21211785 chr6 160498555 161541893 LOH Normal High-resolution SNP genotyping 21211785 chr6 1 60500000 Copy number Cancer ICA method 16751803 chr6 1 60500000 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr6 1 60500000 Deletion Medulloblastoma SNP arrays 21979893 chr6 1 60500000 Duplication Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 chr6 1 60500000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr6 1 60500000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 chr6 1 60500000 Gain Esophageal squamous carcinoma CGH 21637470 chr6 1 60500000 Gain Glioblastoma multiforme aCGH 21080181 chr6 1 60500000 Gain Glioblastoma multiforme CGH 19960244 chr6 1 60500000 Gain Hepatocellular carcinoma CGH 22174799 chr6 1 60500000 Gain or loss Endometrial cancer CGH 22040021 chr6 1 60500000 In Colorectal cancer - 20709793 chr6 1 60500000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr6 1 60500000 Loss Breast cancer aCGH 21264507 chr6 1 60500000 Loss Glioblastoma multiforme conventional CGH 21080181 chr6 160504561 160504777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160513274 160550155 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160527728 160531314 Gain Normal 244K array 17666407 chr6 160557780 160618660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160557780 160618660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160608207 160650373 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160608251 161130251 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr6 160621596 160621693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160621951 160622038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1606712 1606808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160689415 160796004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160689415 160796004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160739836 160846425 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160740337 160740487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160743309 161050209 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 160770000 161380000 Loss Breast cancer aCGH 21509527 chr6 160793453 160824252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160793453 160824252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160808210 160852146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160808210 160852146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16081486 16081586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160836206 160840088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 160844868 160970143 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160858257 160902567 Gain and loss Pancreatic cancer SNP array 17952125 chr6 160872504 161007397 Copy number Coronary Disease from references 20335594 chr6 160872504 161007397 Copy number Coronary Disease SNP array 20032323 chr6 160872505 161007397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 160872505 161007397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 160876366 160909789 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 160889454 160896776 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 160900000 164400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 160900000 164400000 Copy number Normal - 21701786 chr6 160900000 164400000 Deletion Autism high-density microarrays 22241247 chr6 160900000 164400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 160900000 164400000 Gain Atherosclerosis References 21956041 chr6 160900000 164400000 Gain Breast cancer - 16397240 chr6 160900000 164400000 Gain Maculopathy Human Mapping 500K Array and SNP Array 5.0 20981449 chr6 160900000 164400000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 chr6 160900000 164400000 Loss Ovarian cancer Affymetrix 20844748 chr6 160900000 164400000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 160900000 164400000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr6 160900000 170899992 Deletion Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 chr6 160900000 170899992 Loss Glioblastoma multiforme aCGH 21080181 chr6 160903392 161050209 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 160907727 161050209 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 160907727 161050209 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 160912556 160985921 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr6 160936851 160990675 Loss Normal aCGH 21627829 chr6 160945968 160989821 Gain or loss Normal aCGH 21627829 chr6 160946134 160988010 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr6 160951680 160988553 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 160952515 161087407 Copy number Carotid artery disease Illumina HumanCVD BeadChip 21127300 chr6 1609587 1609667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 160967317 161026449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 160972168 161012835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 160981485 161007375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 160988032 160991202 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 161000000 164500000 Deletion Astrocytoma Array CGH 16205629 chr6 1 61000000 Gain Bladder cancer Affymetrix GeneChip Mapping 10K 2.0 19088036 chr6 161002386 161026329 Loss Normal 244K array 17666407 chr6 161003623 170715496 Loss Developmental delay affymetrix genechip 500K/SNP 6.31 array 21147756 chr6 161006077 161055070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161006771 161027413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161011327 161012312 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161029094 161035279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161043260 161094328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 161043260 161094328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16105407 16132464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161093694 161144749 Gain and loss Pancreatic cancer SNP array 17952125 chr6 161094399 161109660 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 161116601 161117549 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161127501 161127606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 161139297 161139391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161139995 161140095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161148111 161153251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161159872 161188730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161172618 161185869 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161174000 161187605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161177923 161178026 Gain and loss Pancreatic cancer SNP array 17952125 chr6 161177940 161178024 Gain and loss Pancreatic cancer SNP array 17952125 chr6 161189087 161198759 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr6 161191869 161191969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161194231 161194607 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 161195297 161195816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 16122642 16122715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161246792 161254660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 161270110 161492959 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-534K arrays 21546498 chr6 161270715 161270867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161270910 161271099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161273000 161273074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161282668 162955494 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 161287178 161287278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161332749 161471907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 161332749 161471907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 161336454 161336619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161341982 161342057 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 161382921 161383439 Gain and loss Pancreatic cancer SNP array 17952125 chr6 161383170 161508827 Gain and loss Pancreatic cancer SNP array 17952125 chr6 16138985 16139055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161464561 161464661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161469959 161470291 Gain and loss Pancreatic cancer SNP array 17952125 chr6 161470448 161786353 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-515K arrays 21546498 chr6 161471050 161615097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 161471050 161615097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 161492843 161492943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161522481 161522576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161527518 161665504 Gain and loss Pancreatic cancer SNP array 17952125 chr6 161551103 161551187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161552385 161552833 Gain and loss Pancreatic cancer SNP array 17952125 chr6 161567228 161600538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161573547 161579316 Loss or gain Normal 244K array 17666407 chr6 161581995 161613890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161604127 161604228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 161606128 161606540 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 161609855 161609955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161612277 163134099 Deletion Cancer Affymetrix 250K Sty array 20164920 chr6 161613089 165618151 Deletion Normal Arbitrated Peel-off 21527027 chr6 161613089 165618151 Deletion Normal GeneGISTIC 21527027 chr6 161613089 165618151 Deletion Normal Standard peel-off 21527027 chr6 161646148 161648217 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 161646284 161647849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 161688442 163068793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 161688442 163068793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 161688579 163068824 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr6 161688579 163068824 Deletion Early-onset parkinson disease Multiple Ligation Probe Amplification (MLPA) analysis 21993715 chr6 161688579 163068824 Deletion Glioblastoma Agilent 244K, Affymetrix SNP6.0 and Illumina 550K 18772890 chr6 161688579 163068824 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 161688579 163068824 Deletion Pancreatic cancer Genome Analyser II,MAQ algorithm 20981101 chr6 161688579 163068824 Duplication Early-onset parkinson disease Multiple Ligation Probe Amplification (MLPA) analysis 21993715 chr6 161741542 163119111 Gain and loss Pancreatic cancer SNP array 17952125 chr6 161745437 161790144 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 161747330 162612669 Deletion Intellectual disability Array CGH 22102821 chr6 161762869 161762969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161768590 163148834 Copy number Parkinson disease real-time qPCR - chr6 161781319 162010871 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 161907541 161907584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 161956088 161956181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16200000 26100000 Amplification Lung cancer Array-based CGH 19153074 chr6 162001753 162016191 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 162032854 162033082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162035802 162238195 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 162097013 163153670 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 162098686 162130827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 162123381 162156969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 162129914 162555946 Deletion Intellectual disability Array CGH 22102821 chr6 162130407 162156992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 162134880 170899992 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr6 162137323 162137413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16215832 16216803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 162161167 162381661 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 162181262 162181423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 162190971 162401450 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 162211091 162211197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 162211108 162211197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 162236489 162236653 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162236536 162236700 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162259993 162260044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16226103 16260009 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 162261529 162261618 Gain and loss Pancreatic cancer SNP array 17952125 chr6 162297547 162466706 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 162304920 162307426 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162323237 162324942 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162332097 162366585 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 162344338 162373556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 16237296 16256450 Gain and loss Pancreatic cancer SNP array 17952125 chr6 16237296 16256458 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 16237296 16256458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 16237296 16256458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 162421647 162433745 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 162426674 162426737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 162449123 162655254 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 162471089 162677104 Copy number Parkinson disease PennCNV and QuantiSNP 21829596 chr6 162482439 162634974 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 162534963 163052519 Duplication Normal - 21586113 chr6 1625457 1625557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 162551244 162610874 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr6 16256582 16256655 Gain and loss Pancreatic cancer SNP array 17952125 chr6 16256582 16256655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 162584576 162587001 Deletion Autism quantitative PCR 19404257 chr6 162600296 162721335 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 162600308 162698991 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 162613148 162639295 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr6 162640384 162837786 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 162640384 162837786 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 162642258 162839717 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 162645085 162645899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162655254 162658558 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 162658008 162660542 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 162658008 162660542 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 162658558 162660430 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 162660430 162685167 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 162665558 162803488 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 162668470 162668631 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162672945 162782313 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr6 162685167 162698991 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 16269136 16269621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 162692702 162951722 Gain Autism Exome sequencing and CGH 22495309 chr6 162697821 166249665 Gain Glioblastoma multiforme 244K oligo array 21138945 chr6 162698991 162953768 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 162699792 162801747 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr6 16271587 16271972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16271803 16271868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 162719313 165363813 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr6 162768919 162902279 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr6 162768919 162951431 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 162772195 162772267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162772211 162772283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1627791 1628101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 16279816 16280241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 162828733 163110786 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 162830048 162830148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 162835583 162997592 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr6 162864202 162864282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 162909966 162910750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1629153 1629252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 162960387 162961171 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1 6300000 Translocation Developmental delay FISH 19490664 chr6 163013635 163013857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163024173 163024273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16302846 16302913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163031924 163032024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163068154 163656513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 163068154 163656513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 163119679 163706430 Gain and loss Pancreatic cancer SNP array 17952125 chr6 163130004 163130072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16313224 16313311 Gain and loss Pancreatic cancer SNP array 17952125 chr6 16313224 16313311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16314546 16314646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163180425 163180493 Gain and loss Pancreatic cancer SNP array 17952125 chr6 163190330 163190370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163190377 163190477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16328780 16330855 Loss Normal 244K array 17666407 chr6 163298280 163298570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 163328331 163350227 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 163338360 163338460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163354406 163354558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 16339802 16339902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163400000 170899992 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr6 16340441 16340540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16340443 16340540 Gain and loss Pancreatic cancer SNP array 17952125 chr6 163424885 163521338 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 16346790 16403757 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 16346790 16403757 Gain and loss Pancreatic cancer SNP array 17952125 chr6 16346790 16403759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 16346790 16403759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 163488601 163766900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 163567932 163568024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 163596324 163596424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163602642 163602729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163613905 163614214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 163618353 163618445 Gain and loss Pancreatic cancer SNP array 17952125 chr6 163641000 163641100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163641831 163642031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 163657216 163657316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16366368 16366468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163663950 163664022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 163667968 163668159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 163682150 163682186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163704232 163704485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 163707358 163994832 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 163707358 164808356 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 163721883 164096255 Deletion Normal GISTIC2.0 21527027 chr6 163735529 163735624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163742402 163742551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163755665 163914886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 163755665 163914886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 163766901 165968000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 163806086 163965280 Gain and loss Pancreatic cancer SNP array 17952125 chr6 163814027 163814226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163814236 163814379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163921265 163921365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 163962475 164132314 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 163979127 163984819 Deletion Normal Standard GISTIC 21527027 chr6 16407320 16869700 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 16407321 16869700 Copy number Normal Illumina Human610-Quad BeadChip 21660214 chr6 16407322 16869666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 16407322 16869666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16407323 16869703 Gain and loss Pancreatic cancer SNP array 17952125 chr6 164112429 164119214 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 164115617 164987284 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 164119193 164128406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 164140352 164140452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 164170798 164170905 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 164176109 164176183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 164181583 164181872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 164182638 164182855 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 164229565 164229665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 164231855 164231955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 164232004 164232295 Gain and loss Pancreatic cancer SNP array 17952125 chr6 164261507 164261607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16431865 16463445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 164348228 164348293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 164360764 164376138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 164385991 164386091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 164386398 164386447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 164400000 170899992 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 164400000 170899992 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr6 164400000 170899992 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr6 164400000 170899992 Deletion Biliary cancer Array CGH 19435499 chr6 164400000 170899992 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 164400000 170899992 Duplication chordoma Array-CGH 19801981 chr6 164400000 170899992 Loss Myxofibrosarcoma Array CGH 16751306 chr6 164400000 170899992 Translocation Autism three-colour fluorescence in situ hybridisation 17483303 chr6 164460720 164467988 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 164460720 164467988 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 164462960 164468133 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 164462960 164468133 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 164463437 164467180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 164482884 164482984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 164500000 171115067 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 chr6 164500000 171115067 Gain Sudden cardiac death CGH 19188705 chr6 164500000 171115067 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr6 164500000 171115067 Loss Myofibroblastic sarcoma CGH 19369631 chr6 164511834 164529926 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1 64586994 Gain Wilms tumour 250K Genotyping Arrays 21544195 chr6 164710084 164750311 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 164732685 164732785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16474322 17052602 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 164752784 165366494 LOH Normal High-resolution SNP genotyping 21211785 chr6 164819337 164819369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 164835172 164835272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165021606 165021706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165033646 165033721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165068897 165068997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165076751 165078000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 165090781 165099498 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 165097078 165106920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 165142785 165168326 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165151829 165174393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165153396 165174050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165153474 165176672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165153886 165167349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165157311 165175374 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165158093 165174874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165162495 165162595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165172419 165172519 Insertion Non-syndromic sensorineural hearing loss - 22037309 chr6 165186723 165186944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165186931 165187142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165186932 165187032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165208457 165208504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165234976 165252870 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 165314195 165314288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165401930 165402030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165439343 165439443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165439461 165439683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165450674 165450902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 165462676 167387423 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 165474627 165474727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16548202 26400022 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 165507252 165507352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165525000 165558744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165583782 166088998 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 165613148 165643101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 165613148 165643101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16561535 16561635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165621585 165621685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165642801 165654000 Deletion Glioma mate-paired sequence 20126413 chr6 165647807 165651918 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 165647807 165651918 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 165647807 165651918 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 165647807 165657424 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 165660766 165995578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 165660766 165995578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 165660767 165995574 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 165663576 165693509 Gain and loss Pancreatic cancer SNP array 17952125 chr6 165664859 165705612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165677348 165709896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165684374 165704475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165685580 165717628 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165686369 165703988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165690827 165705906 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165714950 166045968 Gain and loss Pancreatic cancer SNP array 17952125 chr6 165743041 165743155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 165793462 165793551 Gain and loss Pancreatic cancer SNP array 17952125 chr6 165793463 165793569 Gain and loss Pancreatic cancer SNP array 17952125 chr6 165820512 165820606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 165842959 166623525 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 165842959 166623525 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 165842959 166626675 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 16584774 16616985 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165877489 165878821 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 165890230 165923733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 165928151 165929480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 165968001 169611200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 165993501 165998000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 165993547 165996032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166011971 166023862 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 166043992 166049165 Gain Normal 244K array 17666407 chr6 166051713 166051816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166102134 166102237 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166112052 166269346 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 166133534 166166016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 166275749 166275819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166321028 166323093 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 166321105 166323093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 166321105 166323093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166321501 166323000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 166323001 166783000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 166350307 168114434 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 166357011 166367954 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 166371450 166373513 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166397775 166398773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166415268 166422517 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 166415268 166422517 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 166417609 166434140 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 166417667 166422517 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 166417667 166422517 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 166418427 166434140 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 166433331 166433402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1664491 1664581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166451030 166497669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 166460873 166460973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166483752 166483822 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166483752 166483823 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166486807 166486877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166490785 166502121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 166490785 166502121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166499243 166499243 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr6 166513701 167478691 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 166541497 166552542 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166542881 166542984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 16654779 16654848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166559979 167200028 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 166573768 166573971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166593302 166593405 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166593306 166593405 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166616497 166616805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 166640733 166641620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166653214 166676018 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 166653214 166676018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166668043 166669032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166676596 166676691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166691154 166692041 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166698400 166716476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 166698400 166716476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166703627 166726439 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166710085 166710185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166742843 167195761 Gain or loss Breast cancer - 20668451 chr6 166742843 167195761 Gain or loss Cancer - 20668451 chr6 166742843 167195761 Gain or loss Lung cancer - 20668451 chr6 166742843 167195761 Gain or loss Ovarian cancer - 20668451 chr6 166742843 167195761 Gain or loss Pancreas cancer - 20668451 chr6 166742843 167195761 Gain or loss Prostate cancer - 20668451 chr6 166742844 167195648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 166742844 167195648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166748818 166766897 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166750866 166750965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166783001 166784500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 166784501 167289000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 166789304 166789402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166795135 167011136 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166806486 166955825 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 166842832 166842911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166890006 166890106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166909107 166938108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 166915780 166918120 Gain and loss Pancreatic cancer SNP array 17952125 chr6 166919602 166919955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 166919602 166919955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 166928228 166928323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 166928728 166973362 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 166954425 166954525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 16700000 57200000 Loss Cancer array-based techniques 21183584 chr6 167026073 167026105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167034572 167035165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167036667 167036767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167061042 167061142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167075028 167896475 LOH Normal High-resolution SNP genotyping 21211785 chr6 167083504 167083604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167084993 167085586 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167095914 167095993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167098181 167098281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167098521 167098659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 167124598 167124811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167124689 167124808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167124795 167125018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167124829 167124929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167130229 167130280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 167167846 167891650 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167172225 167172403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 167175572 167175672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167192415 167192536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 167263003 167290669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167263003 167290669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167278930 167279389 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167289001 167291000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 167291001 167708000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 167313424 167341090 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167320339 167346949 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167320393 167320469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167322186 167363091 Amplification or deletion Cancer Array CGH 17440070 chr6 167328697 167705099 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 167329351 167329810 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167332805 167374056 Gain or loss Breast cancer - 20668451 chr6 167332805 167374056 Gain or loss Cancer - 20668451 chr6 167332805 167374056 Gain or loss Lung cancer - 20668451 chr6 167332805 167374056 Gain or loss Ovarian cancer - 20668451 chr6 167332805 167374056 Gain or loss Pancreas cancer - 20668451 chr6 167332805 167374056 Gain or loss Prostate cancer - 20668451 chr6 167332806 167374055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167332806 167374055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167332883 167472619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167332883 167472619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167338092 167338160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 167338101 167338169 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 167380182 167425550 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 167383227 167523040 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167406101 167411500 Deletion Glioma mate-paired sequence 20126413 chr6 167408061 167409563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 167408121 167409138 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 1674195 1674393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1674206 1674320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167463004 167464418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 167471615 167816346 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 167489749 167491807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167489749 167491807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167504115 167528908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167504115 167528908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167528005 167583568 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 167540771 167541730 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167542109 167542375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167548013 167548101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167554536 167579329 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167557139 167685241 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 167584908 167692835 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 167618618 167619320 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 167624463 167656860 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 167624656 167624756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167624793 167649497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167624793 167649497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167624934 167651340 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 167624934 167656860 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 167658564 167676167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167658564 167676167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167675214 167699918 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167680950 167681531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167690511 167717988 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167690511 167717988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167708001 167722750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 167708985 167725785 Gain and loss Pancreatic cancer SNP array 17952125 chr6 167710271 167711819 Loss Normal 244K array 17666407 chr6 167722751 167857000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 167769758 167769848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167795290 167795505 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chr6 167802062 167802385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 167810373 167822736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167824221 167839819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167898916 167899016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167910766 167912091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167922453 168038385 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 167928072 167940388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167932567 167932655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 167967427 167970325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167970519 168115552 Gain or loss Breast cancer - 20668451 chr6 167970519 168115552 Gain or loss Cancer - 20668451 chr6 167970519 168115552 Gain or loss Lung cancer - 20668451 chr6 167970519 168115552 Gain or loss Ovarian cancer - 20668451 chr6 167970519 168115552 Gain or loss Pancreas cancer - 20668451 chr6 167970519 168115552 Gain or loss Prostate cancer - 20668451 chr6 167970520 168115552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 167970520 168115552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 167979106 168053884 Copy number Lung cancer paired-end sequencing 18438408 chr6 167986606 167987592 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168003777 168016095 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168015653 168015725 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr6 168015653 168015725 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr6 168038593 168070275 Amplification or deletion Cancer Array CGH 17440070 chr6 168043185 168045945 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168046369 168191256 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168055424 168533940 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 168065985 168338768 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 168068495 168340143 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 168068495 168340143 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 168068495 168343509 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 168068495 168343509 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 168068758 169889774 Copy number Lung cancer paired-end sequencing 18438408 chr6 168071044 168071098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168071420 168071520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168078127 168326441 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 168078127 168338768 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 168078127 168338768 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 168078127 168340196 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 168078929 168340091 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr6 168080334 168340196 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 168080731 168336359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 168082501 168086600 Deletion Glioma mate-paired sequence 20126413 chr6 168087000 169485000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr6 168088980 168338890 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 168088980 168338890 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 168088980 168340143 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 168088980 168340143 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 16810347 16810437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168114265 168324002 Copy number Rett syndrome References 21593744 chr6 168114265 168324002 Duplication Rett syndrome References 21593744 chr6 168115809 168115909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168120000 168320000 Gain Acute lymphoblastic leukemia - 21339820 chr6 168145638 168145738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168147432 168433567 Gain Normal 244K array 17666407 chr6 168161402 168188618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 168161402 168188618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 168174708 168401562 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr6 168185501 168246000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 168188416 168212997 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 168193700 168193780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168194599 168219084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 168199333 168222706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 168199333 168222706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 168212062 168216313 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168219382 168219447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 168220572 168220665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 168220896 168221086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 168227670 168372702 Duplication LiNormalfraumeni syndrome Affymetrix GeneChip 250K Nsp microarray 18685109 chr6 168237115 168264325 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168246001 168522000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 168263151 168263278 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 168275020 168298413 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168403252 168403352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168425764 168681130 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 168430436 168432837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 168435975 168471478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 168436361 168463283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 168436361 168463283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 168436390 168436490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168437767 168461185 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 168443676 168466643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 16845064 16869700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 168457901 168463200 Deletion Glioma mate-paired sequence 20126413 chr6 168459907 168461623 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 168507403 168508517 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168519270 168519400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168522001 168524500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 168524501 168681000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 168526140 168538958 Deletion T-cell lymphomas Array-CGH 22341440 chr6 168526142 168538958 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168580479 170716684 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 168584680 168815214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 168584680 168815214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 168589235 168589298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168627541 168627641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168660416 168886303 Gain and loss Pancreatic cancer SNP array 17952125 chr6 168660587 168886303 Deletion T-cell lymphomas Array-CGH 22341440 chr6 16866669 16945512 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr6 168681001 168682500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 168701943 168812545 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 168701943 168812545 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 168701943 168857249 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 168701943 168857249 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 168711475 168756153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 168716254 168716354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168719361 168720583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 168746917 168748481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 168764283 168902965 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 168811525 168857249 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 168816391 168816476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168825841 168825941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168844984 168845078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168894866 168894966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168902974 168987858 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 168947899 168948005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 168950563 168961276 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 168965090 168965319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 168982099 168982786 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 168982664 169537132 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 168982664 169537132 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 168992459 169537132 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 169050690 169059132 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 169056563 169056663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169057674 169068326 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1690651 1690722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169084405 169084505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169102060 169102160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169132501 169134000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 169146116 169146211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169173985 169174085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169242195 169242274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169248207 169263061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169249420 169249483 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169249708 169260864 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 169305979 169306044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169325661 169540112 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr6 169357801 169396062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 169357801 169396062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 169359977 169360077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169360515 169361282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169375147 169377202 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 169375583 169376524 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1693967 1694067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169405038 169405206 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 169433508 169471769 Gain and loss Pancreatic cancer SNP array 17952125 chr6 169436528 169738682 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 169438491 169439979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 169447161 169482868 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 169487392 169506501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 169559260 169559360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169563923 169651825 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 169597906 169598964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169599232 169844084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 169599232 169844084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 169611201 169763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 16961613 16961713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169647483 169647566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169747351 169747519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169765138 169787319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 169776049 169906733 Gain and loss Pancreatic cancer SNP array 17952125 chr6 169795992 169796092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 169802838 169803029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169806872 169807119 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 16981250 17020517 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 169843501 169845000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 169844182 169848326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 169844182 169848326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 169845929 169866026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 169845929 169866026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 169878920 169923605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 169878920 169923605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 169882140 169893563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 169882140 169893563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 169896159 170899992 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 16990000 18580000 Gain Breast cancer aCGH 21509527 chr6 169904894 170899992 Copy number Lung cancer paired-end sequencing 18438408 chr6 169919889 169924033 Gain and loss Pancreatic cancer SNP array 17952125 chr6 169921636 169941733 Gain and loss Pancreatic cancer SNP array 17952125 chr6 16992945 16994072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169948054 169948335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169951910 169952292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169957847 169969270 Gain and loss Pancreatic cancer SNP array 17952125 chr6 169969353 169999241 Gain and loss Pancreatic cancer SNP array 17952125 chr6 169970873 169971288 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169970873 169971352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 169990629 170899992 LOH Normal High-resolution SNP genotyping 21211785 chr6 16999064 16999152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170000000 170483000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr6 170000000 171010000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr6 170000000 171040000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr6 1 7000000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 chr6 1 7000000 Gain Cancer array-based techniques 21183584 chr6 1 7000000 Microdeletion Multiple Epiphyseal Dysplasia FISH 20877625 chr6 170006518 170016553 Gain and loss Pancreatic cancer SNP array 17952125 chr6 170008049 170020595 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17001905 17002005 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170037168 170037200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170056851 170056935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170058 170158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170067340 170067440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170089732 170089832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170179501 170306000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 170186434 170186513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170244599 170244689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170244669 170244764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170260546 170260620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170283119 170283119 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 170289380 170899992 LOH Normal High-resolution SNP genotyping 21211785 chr6 170298124 170298312 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 170306001 170325000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 170308225 170716684 Loss Developmental delay affymetrix genechip 500K/SNP 6.32 array 21147756 chr6 170318901 170348792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170325001 170448500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 17032649 17058935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 170329210 170329470 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 170356918 170357407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 170366776 170400840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170377802 170406616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170406829 170407034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 170412836 170412905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170417762 170418577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 170423676 170669360 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr6 170433218 170441622 Copy number Lung cancer - 20668451 chr6 170433218 170441622 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 170433218 170441622 Gain or loss Breast cancer - 20668451 chr6 170433218 170441622 Gain or loss Cancer - 20668451 chr6 170433218 170441622 Gain or loss Lung cancer - 20668451 chr6 170433218 170441622 Gain or loss Ovarian cancer - 20668451 chr6 170433218 170441622 Gain or loss Pancreas cancer - 20668451 chr6 170433218 170441622 Gain or loss Prostate cancer - 20668451 chr6 170433223 170441622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 170433223 170441622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 170441804 170441904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170443845 170465507 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170456943 170456987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170457769 170556161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 170457769 170556161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 170499383 170761941 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 170500595 170500723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170508933 170517116 Gain and loss Pancreatic cancer SNP array 17952125 chr6 170533476 170631868 Gain and loss Pancreatic cancer SNP array 17952125 chr6 170538106 170538754 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 170584501 170622000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 170586438 170586520 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 170607803 170613975 Gain Normal 244K array 17666407 chr6 170609510 170609569 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 170610082 170614168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170614279 170625791 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170620412 170628683 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170625544 170644126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170625579 170632578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 170680673 170680738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170686134 170704312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 170686134 170704312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 170705384 170723869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 170705384 170723869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 170707019 170707138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 170728375 170735673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 170728375 170735673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 170732323 170823609 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 170738849 170899992 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 170738849 170899992 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 170761839 170780019 Gain and loss Pancreatic cancer SNP array 17952125 chr6 170781103 170799578 Gain and loss Pancreatic cancer SNP array 17952125 chr6 170790619 170791556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 170804082 170811380 Gain and loss Pancreatic cancer SNP array 17952125 chr6 170833501 170850000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 170856685 170899992 Loss Normal 244K array 17666407 chr6 170896629 170896992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 170936493 170899992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1 7100000 Copy number Glaucoma CGH, TaqMan and ABI qPCR 18694899 chr6 17210468 17239582 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17227410 17271785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 172761 401479 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 17281605 17281664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 17324707 18592285 LOH Normal High-resolution SNP genotyping 21211785 chr6 17333229 17333325 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17333229 17333325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17389753 17402076 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17389792 17402076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 17389792 17402076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 17389792 17402076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17465076 17465076 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 chr6 17465076 17465076 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr6 17483201 17490900 Deletion Glioma mate-paired sequence 20126413 chr6 17484707 17489591 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 17489577 17490330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17501715 17666000 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 17501715 17666000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 17501715 17666000 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17501715 17666000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17525511 17655490 Copy number Smith-Magenis syndrome MLPA 22283845 chr6 17531492 17587753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 17537809 17583289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1754013 1926781 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr6 17575070 17939370 Copy number Schizophrenia - 18511947 chr6 17580249 17580561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 17604630 17604730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 17634350 17634623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17634884 17635177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17639104 17639712 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17639104 17639864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17690244 17690515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17708565 17719928 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 17708565 17719928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 17708565 17719928 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17708565 17719928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1771300 1771400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 17723247 17814797 Copy number Lung cancer - 20668451 chr6 17723247 17814797 Gain or loss Breast cancer - 20668451 chr6 17723247 17814797 Gain or loss Cancer - 20668451 chr6 17723247 17814797 Gain or loss Lung cancer - 20668451 chr6 17723247 17814797 Gain or loss Ovarian cancer - 20668451 chr6 17723247 17814797 Gain or loss Pancreas cancer - 20668451 chr6 17723247 17814797 Gain or loss Prostate cancer - 20668451 chr6 17723248 17814797 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 17723248 17814797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 17723248 17814797 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17723248 17814797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1772562 1772717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 17727743 17727844 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17727743 17727844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17817065 17817165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 17829995 17830108 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17829996 17830113 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17829996 17830113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17839070 17839132 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17839070 17839132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17845668 17845769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 17845670 17845765 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17845670 17845769 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17868565 18095692 Gain and loss Pancreatic cancer SNP array 17952125 chr6 17870764 18095833 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 17870764 18095833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 17870764 18095833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 178770201 170899992 Deletion Glioma mate-paired sequence 20126413 chr6 17929469 18791970 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 17948663 18343449 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 17986664 17990588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18002054 18002279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 1800 4200 Copy number Lymphoma KC-SMARTR 21070656 chr6 1805745 1815128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 18061782 18062140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 180642 55416965 Gain Prostate cancer Array CGH 18632612 chr6 181171 323927 Loss Normal 244K array 17666407 chr6 18140324 18171896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 18144601 18189463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 1815036 30692999 Gain or loss Breast cancer - 20668451 chr6 1815036 30692999 Gain or loss Cancer - 20668451 chr6 1815036 30692999 Gain or loss Lung cancer - 20668451 chr6 1815036 30692999 Gain or loss Ovarian cancer - 20668451 chr6 1815036 30692999 Gain or loss Pancreas cancer - 20668451 chr6 1815036 30692999 Gain or loss Prostate cancer - 20668451 chr6 18161596 18161654 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18161596 18161654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18163742 18223694 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 18210899 18459876 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-540K arrays 21546498 chr6 18229629 18230816 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18229629 18230816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18236526 18263353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 18236526 18263353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18236939 18263263 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18263598 18332063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 18263598 18332063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18293998 18330908 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18296460 18296560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18332378 18372778 Gain or loss Breast cancer - 20668451 chr6 18332378 18372778 Gain or loss Cancer - 20668451 chr6 18332378 18372778 Gain or loss Lung cancer - 20668451 chr6 18332378 18372778 Gain or loss Ovarian cancer - 20668451 chr6 18332378 18372778 Gain or loss Pancreas cancer - 20668451 chr6 18332378 18372778 Gain or loss Prostate cancer - 20668451 chr6 18332381 18372778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 18332381 18372778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18332392 18372750 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18332399 18354334 Amplification or deletion Cancer Array CGH 17440070 chr6 183469 183548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18381375 18381476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18381376 18381476 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18381377 18381476 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18388747 19843784 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 18415183 18415285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18415183 18415289 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18415185 18415288 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18435678 18435756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1845132 1845230 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 18469996 18470146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18471627 18473312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18472086 18473387 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18474949 18476853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18495560 18576827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 18495560 18576827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18495573 18576827 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18499687 18499787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18508101 18512900 Deletion Glioma mate-paired sequence 20126413 chr6 18510071 18510850 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 18510163 18510262 Gain and loss Pancreatic cancer SNP array 17952125 chr6 18510163 18510262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18527392 18527492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18569648 18569743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18574538 18574788 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 18594470 21251395 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr6 18626859 18626905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18626867 18626914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18679994 18680090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 18784069 18784169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18796802 18796902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18799636 19710474 LOH Normal High-resolution SNP genotyping 21211785 chr6 18809768 19710474 LOH Normal High-resolution SNP genotyping 21211785 chr6 18818541 18818641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18883988 18884057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18914992 18915092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 18916599 18918506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 18953561 18953661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1895994 1896083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1901271 1901348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19038559 19038657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19046497 19081437 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 1907306 1907406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19108667 19108767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19136915 19137108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19137093 19137317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19137117 19137217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19141383 19161041 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 19144383 19158455 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 19144383 19158455 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 19144515 19161962 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 19146376 19214650 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 19146605 19152877 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 19149166 19157377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 19149248 19157489 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 19152669 19152865 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 19153169 19168489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 19202178 19233359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 19221403 19221481 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 192516 326137 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 19251908 19252370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 19263611 19263945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 1926712 1926812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1 94000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 19408056 19408156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 1943442 1943542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19443123 19443183 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 19455456 19455919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 19456391 19457273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 19523290 20305613 LOH Normal High-resolution SNP genotyping 21211785 chr6 19531582 19531815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 19546493 19546593 Gain and loss Pancreatic cancer SNP array 17952125 chr6 19546493 19546595 Gain and loss Pancreatic cancer SNP array 17952125 chr6 19546493 19546601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 19546664 20964682 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 195549 340044 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 19557828 19557916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19635399 19635464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19664774 19664874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19685577 19686506 Deletion Cancer CGH 22183965 chr6 19685577 19686506 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 chr6 19702998 19703088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19720964 19722245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 19720967 19722245 Gain and loss Pancreatic cancer SNP array 17952125 chr6 1972546 2077160 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 19746250 19747408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 19750635 19750739 Gain and loss Pancreatic cancer SNP array 17952125 chr6 19750636 19750739 Gain and loss Pancreatic cancer SNP array 17952125 chr6 19750637 19750739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 19793556 19794484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 19793556 19794485 Deletion small cell lung cancer array-CGH 20016488 chr6 19800 23100 Copy number Lymphoma KC-SMARTR 21070656 chr6 198272 199267 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 19836982 19843784 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 19862959 19880298 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 19864460 19883500 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 19869034 19879739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 19870314 19887682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 19871301 19880900 Deletion Glioma mate-paired sequence 20126413 chr6 19872054 19904866 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 19873086 19879163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 19921598 21647972 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 19924836 19931217 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 199267 202352 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 199284 247293 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 19931690 19931780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 19945596 19948893 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 19945596 19948893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 19945596 19948893 Gain and loss Pancreatic cancer SNP array 17952125 chr6 19945596 19948893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 19947325 19947981 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 20023062 20023138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 20047001 20048500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 20060970 20061101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 200650 329973 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 20099298 20099350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20125778 20134053 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 20128071 20128171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20128926 20156612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 201416 241014 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 20150872 20151150 Gain and loss Pancreatic cancer SNP array 17952125 chr6 20150959 20151150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20169011 20169131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20169020 20169118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20169767 20169847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2019538 2068880 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr6 20206051 20206151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20208914 20320649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 20208914 20320649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20209003 20320637 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 20209003 20320637 Gain and loss Pancreatic cancer SNP array 17952125 chr6 202341 248121 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 202341 310708 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 202341 324003 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 202341 324003 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 202341 326137 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 202341 327559 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 202341 329546 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 202341 330772 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 202341 330772 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 202341 334630 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 202352 202353 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 202353 247306 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 202353 325821 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 202353 326149 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 202353 326149 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 20236536 21015860 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 202426 307948 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr6 20290000 23740000 Loss Acute lymphoblastic leukemia - 21339820 chr6 2031543 2899601 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 2031725 2031780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20349691 20349791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20360265 20361412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20367836 20367888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 20390239 20390310 Gain and loss Pancreatic cancer SNP array 17952125 chr6 20390239 20390310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 204528 24692054 Deletion Myelodysplastic syndrome - 21251322 chr6 20482732 20482832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 205000 9805000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 205000 9805000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 20510377 20601921 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 20510377 20601921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 20510377 20601921 Gain and loss Pancreatic cancer SNP array 17952125 chr6 20510377 20601921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20529792 20530097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20529859 20530097 Gain and loss Pancreatic cancer SNP array 17952125 chr6 20529859 20530097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 205364 248121 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 20560579 20560683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20560583 20560683 Gain and loss Pancreatic cancer SNP array 17952125 chr6 20560583 20560683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2056870 2056970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20608385 20608484 Gain and loss Pancreatic cancer SNP array 17952125 chr6 20608385 20608486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20608386 20608484 Gain and loss Pancreatic cancer SNP array 17952125 chr6 20642667 21340614 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 20642667 21340614 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 20642667 21340614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20642736 21340611 Gain and loss Pancreatic cancer SNP array 17952125 chr6 20719707 20719739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20728038 21336324 LOH Normal High-resolution SNP genotyping 21211785 chr6 20736126 21345055 LOH Normal High-resolution SNP genotyping 21211785 chr6 20739151 21345055 LOH Normal High-resolution SNP genotyping 21211785 chr6 20741482 20741582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20782921 20785211 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 20823344 20823444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20830538 20831865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 20840636 20840736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20860023 21094979 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 20873346 20873665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 20874360 20874460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 20962815 21423154 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 2097627 30975912 Gain or loss Breast cancer - 20668451 chr6 2097627 30975912 Gain or loss Cancer - 20668451 chr6 2097627 30975912 Gain or loss Lung cancer - 20668451 chr6 2097627 30975912 Gain or loss Ovarian cancer - 20668451 chr6 2097627 30975912 Gain or loss Pancreas cancer - 20668451 chr6 2097627 30975912 Gain or loss Prostate cancer - 20668451 chr6 210101 311333 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 21083363 23553309 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 21102500 21102600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 211050653 211252076 Copy number Autoimmune disease TaqI RFLP 19135723 chr6 211234 796912 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-535K arrays 21546498 chr6 21164239 21164339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21177603 21177703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21183278 21183378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21190179 21190255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 21191041 21191260 Gain and loss Pancreatic cancer SNP array 17952125 chr6 21191041 21191260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 21197531 21205721 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 2121858 2121957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2122908 30990793 Gain or loss Breast cancer - 20668451 chr6 2122908 30990793 Gain or loss Cancer - 20668451 chr6 2122908 30990793 Gain or loss Lung cancer - 20668451 chr6 2122908 30990793 Gain or loss Ovarian cancer - 20668451 chr6 2122908 30990793 Gain or loss Pancreas cancer - 20668451 chr6 2122908 30990793 Gain or loss Prostate cancer - 20668451 chr6 21263936 21263968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21265910 21266010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2136001 2137500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 21368095 21368195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21378999 21379099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21609666 21611713 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 21701951 21706826 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 21701951 21706826 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 21701951 21706826 Gain and loss Pancreatic cancer SNP array 17952125 chr6 21701951 21706826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 21710338 21710579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 21725961 21726071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21835435 21848217 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 21836116 21836216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21904220 22063944 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 21911688 21911756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 21952471 21952571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22000486 22000586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2202942 2203038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22037506 22037590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22064055 22501454 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 22141820 22327631 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 22158801 22163600 Deletion Glioma mate-paired sequence 20126413 chr6 22158918 22162322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 22158982 22162452 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 22158982 22162452 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 22160749 22161706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 22190000 22780000 Copy number Cognitive impairment - 21505072 chr6 22193752 22194066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 22193752 22194084 Gain and loss Pancreatic cancer SNP array 17952125 chr6 22193753 22193999 Gain and loss Pancreatic cancer SNP array 17952125 chr6 22200000 22800000 Copy number Cognitive impairment - 21505072 chr6 22228190 22228289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22259893 22293493 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 22264048 22301363 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 22266410 22297454 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 22271131 22306008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 22272906 22272906 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 chr6 22272906 22272906 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr6 22321514 22322466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 22335452 22335733 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 223668 309891 Copy number Lung cancer paired-end sequencing 18438408 chr6 22369196 22369267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22371616 24169253 Deletion small cell lung cancer array-CGH 20016488 chr6 22372503 24168195 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 22395459 22405709 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 22395459 22405709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 22395459 22405709 Gain and loss Pancreatic cancer SNP array 17952125 chr6 22395459 22405709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 22405105 22405205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22417805 22417934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22430286 22430386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2243035 2243098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22433380 22433449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22502049 22689017 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 22502203 22521762 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr6 22532942 23302667 LOH Normal High-resolution SNP genotyping 21211785 chr6 22609786 22609884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 2264126 2264226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22648041 22648191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22677657 22678729 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 22677657 22678729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 22677657 22678729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 22677784 22678539 Gain and loss Pancreatic cancer SNP array 17952125 chr6 22753212 22756182 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 22753569 22753669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22756629 22756714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 227701 328900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 22773800 22773832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22799292 22799434 Gain and loss Pancreatic cancer SNP array 17952125 chr6 22799292 22799434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 228066 235711 Duplication Normal TaqMan assays 20972442 chr6 22811582 22954031 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 2286683 2286949 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2286683 2286949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 22890629 22890952 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 22894731 22894831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22963310 22963410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22965207 22965307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 22993293 35277686 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 2300000 23500000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr6 2300000 23500000 Oss Invasive pancreatic ductal carcinoma array CGH 16982739 chr6 2300000 4100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 2300000 4100000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr6 2300000 45200000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr6 2300000 51100000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr6 23004607 23004799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 230453 230553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23056173 23056329 Gain and loss Pancreatic cancer SNP array 17952125 chr6 23056173 23056329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 23076220 23076299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2309415 2309670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 23135022 23135122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 232015 282479 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 23209416 23211934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23210895 23211750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 23233188 23233294 Gain and loss Pancreatic cancer SNP array 17952125 chr6 23233188 23233294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 23248821 23248971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23269731 23271826 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23302365 23302465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23326456 54161876 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr6 23351451 23380919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 23381946 23382025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23394894 23395044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23408342 23408663 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23410776 23410861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23449715 23449805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23454957 23455096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23455618 26561721 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 23497769 23497869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23498788 23498881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23500000 26100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 23500000 26100000 Gain Williams-beuren syndrome ABI Prism 7900HT sequence detection system 16971481 chr6 23500000 26100000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr6 23502122 23502195 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 23507887 23508080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23531645 23565334 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 2354765 2354978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 23558313 23558413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2356596 2356863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 23568304 23573414 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23627693 25589970 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 237053 296347 Gain and loss Pancreatic cancer SNP array 17952125 chr6 237100 296355 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr6 237100 296355 Loss Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay, FISH 20877625 chr6 237101 296353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 237101 296353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 237390 340025 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr6 23757703 23757981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 23793967 23794294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23797605 23797705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2381912 128498373 Gain or loss Breast cancer - 20668451 chr6 2381912 128498373 Gain or loss Cancer - 20668451 chr6 2381912 128498373 Gain or loss Lung cancer - 20668451 chr6 2381912 128498373 Gain or loss Ovarian cancer - 20668451 chr6 2381912 128498373 Gain or loss Pancreas cancer - 20668451 chr6 2381912 128498373 Gain or loss Prostate cancer - 20668451 chr6 238243 246708 Gain Normal TaqMan assays 20972442 chr6 23845056 23845140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23851239 23853921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23851239 23853924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23922862 23922947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23952347 23952674 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 23957389 23957524 Gain Normal 244K array 17666407 chr6 23962346 23965848 Gain and loss Pancreatic cancer SNP array 17952125 chr6 23963001 23964500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 23964779 23965025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 23978120 23978362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23978340 23978461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23978340 23978580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 23987541 24738536 LOH Normal High-resolution SNP genotyping 21211785 chr6 23999290 24024790 Loss Normal 244K array 17666407 chr6 24015815 25036885 LOH Normal High-resolution SNP genotyping 21211785 chr6 2402505 2402718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 240376 244514 Copy number Autism exome sequencing 22495311 chr6 24055301 24059100 Deletion Glioma mate-paired sequence 20126413 chr6 24056721 24056961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 24056829 24056914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 24080086 24081130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24080086 24081130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24086811 25468616 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-511K arrays 21546498 chr6 24110031 24110633 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24110031 24110633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24150000 26160000 Loss Acute lymphoblastic leukemia - 21339820 chr6 24173187 57309675 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 24208798 25074943 LOH Normal High-resolution SNP genotyping 21211785 chr6 24234329 24255609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24234329 24255609 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24234329 24255609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24241199 42328329 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 24254832 24465957 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24274484 24274580 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24274484 24274580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24279962 24466259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24279962 24466259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24300 24300 Copy number Lymphoma KC-SMARTR 21070656 chr6 24310696 24310781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 24433341 24435786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 24433549 24435493 Loss Normal 244K array 17666407 chr6 24433564 24609197 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr6 24439688 24442459 Loss Normal 244K array 17666407 chr6 24444782 24444946 Loss Normal 244K array 17666407 chr6 24465110 24466491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24465110 24466491 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24465110 24466491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24473856 24473961 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24473858 24473961 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24473858 24473961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24511132 24533788 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24511132 24533788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24511161 24532469 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24536384 24597829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24536384 24597829 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24536384 24597829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24553856 24555223 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 24601312 24601412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 24603176 24645414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24603176 24645414 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24603176 24645414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24641095 28081863 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-543K arrays 21546498 chr6 24652311 24754362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24652311 24754362 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24652311 24754362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24692351 24692401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 24706219 24707991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2472402 2569090 Loss Normal 244K array 17666407 chr6 247306 263804 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 24758183 24775094 Copy number Lung cancer - 20668451 chr6 24758183 24775094 Gain or loss Breast cancer - 20668451 chr6 24758183 24775094 Gain or loss Cancer - 20668451 chr6 24758183 24775094 Gain or loss Lung cancer - 20668451 chr6 24758183 24775094 Gain or loss Ovarian cancer - 20668451 chr6 24758183 24775094 Gain or loss Pancreas cancer - 20668451 chr6 24758183 24775094 Gain or loss Prostate cancer - 20668451 chr6 24758184 24775102 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24758185 24775094 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24758185 24775094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24775254 24809917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24775254 24809917 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24775254 24809917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24787635 24787735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 24813146 24827382 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24813146 24828108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24813146 24828108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2483686 2483773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 24858879 24859831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24872767 24916481 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 24882128 24931991 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 24883138 24894302 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24883143 24894306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24883143 24894306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24888242 24912424 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 24888242 24916481 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 24899248 24916481 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 24899248 24940692 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 24902086 24902186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 24907102 24927516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 24909945 24927016 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 24910770 24926843 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 24912492 24984028 Gain and loss Pancreatic cancer SNP array 17952125 chr6 24912492 25019174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 24912492 25019174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 24913555 24926641 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 24918001 24927600 Deletion Glioma mate-paired sequence 20126413 chr6 24919855 24925929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 24919861 24926086 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr6 24920882 24920982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 24951212 24951656 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 24987089 24987385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 24990803 25994135 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr6 25035168 25035187 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr6 25035171 25035486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 25041914 25042014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25056087 25056551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2507069 2507204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 250828 57556632 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr6 25084599 25085188 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25084626 25085188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25084626 25085188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25131499 25132667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2513175 2516927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 25139200 25139489 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25139200 25139489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25139217 25139489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25177110 25178723 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 25183690 25326677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25183690 25326677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25189777 25246300 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25200000 130300000 Loss Gastric cancer 5K BAC array CGH 17908304 chr6 25200000 27000000 Gain Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 chr6 25200000 33500000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr6 25200000 40500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr6 25224551 25224651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25248191 25249628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25248191 25249628 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25248191 25249628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25248210 25249607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25250422 27408424 LOH Normal High-resolution SNP genotyping 21211785 chr6 25253650 25253750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25260753 25261725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25260754 25261726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25289511 25289931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25300620 25300693 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25300620 25300693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25300620 25300697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25300997 25301097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25310185 25322390 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr6 25321289 25321369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25326895 25329278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25359756 25359856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25369446 25369922 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25369446 25369927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25378286 30667272 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-508K arrays 21546498 chr6 25380222 25380322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25380408 25381958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25387285 25560802 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25387285 25728737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25387285 25728737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25387626 25728737 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 25395639 25395740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25395641 25395740 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25422743 25422743 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 25423516 25423601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25424938 25425044 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25424939 25425044 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2543144 3149820 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 2543144 5500587 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 25486872 25486972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25491806 25491909 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25491806 25491909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25521386 26252837 LOH Normal High-resolution SNP genotyping 21211785 chr6 25543487 25543563 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25543487 25543563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25558699 25559120 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 25558699 25559120 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 25560000 26020000 Loss Breast cancer aCGH 21509527 chr6 25561223 25561323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25588629 25588729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25618948 25728735 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25637850 25637990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 256655 277372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 2567146 2579836 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25676560 26664869 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 2567971 2580297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25697571 25710104 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 2569831 2569895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25710105 25715549 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 25753793 25753893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25760408 25809981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25760408 25809981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25760439 25809981 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25787007 25787619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25792882 26313723 LOH Normal High-resolution SNP genotyping 21211785 chr6 25792882 26368605 LOH Normal High-resolution SNP genotyping 21211785 chr6 25792882 26369774 LOH Normal High-resolution SNP genotyping 21211785 chr6 25793490 26369774 LOH Normal High-resolution SNP genotyping 21211785 chr6 25832978 25845999 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 25834339 25834734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25834339 25834734 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25834339 25834734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25835116 25835552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25835116 25835552 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25835116 25835552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25837588 26602154 LOH Normal High-resolution SNP genotyping 21211785 chr6 25839990 25840369 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25839990 25840369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25840672 25841018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25862906 25889381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25862906 25889381 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25862906 25889381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25866846 25866946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 25891104 25940266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25891104 25940266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25891296 25938776 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25953307 25990493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 25953307 25990493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 25953312 25990493 Gain and loss Pancreatic cancer SNP array 17952125 chr6 25987995 26609149 LOH Normal High-resolution SNP genotyping 21211785 chr6 25999765 26783887 LOH Normal High-resolution SNP genotyping 21211785 chr6 26005964 26006279 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 26020130 26064537 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 26020970 26038818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26020970 26038818 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26020970 26038818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26070982 26093329 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26071254 26093327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26071254 26093327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26077937 26393662 Gain Autism Exome sequencing and CGH 22495309 chr6 2608871 2696153 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 2608871 2696153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 2608871 2696153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2608875 2624700 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26089000 26937000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr6 26090000 26440000 Gain Breast cancer aCGH 21509527 chr6 26092436 26282972 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr6 26100000 29900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 26100000 29900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 26100000 29900000 Gain Breast cancer - 16397240 chr6 26100000 45200000 Duplication Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 chr6 26100000 45200000 Gain Metanephric adenoma Oligo aCGH 20802469 chr6 26124586 26124808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26125292 26125939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26125292 26125939 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26125292 26125939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26126836 26126936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 26128697 26129165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26128697 26129165 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26128697 26129165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26129885 26313228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26129885 26313228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26129886 26152534 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26135022 26135459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26135022 26135459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26135148 26135459 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26139795 26140267 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 26139857 26140267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26139857 26140267 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26139857 26140267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26141383 26141775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26141383 26141775 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26141383 26141775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26142977 26143024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 26151436 44815782 Gain Prostate cancer Array CGH 18632612 chr6 26151484 26151864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26151484 26151864 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26151484 26151864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26153591 26155001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26153591 26155001 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26153591 26155001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26163994 26164635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26163994 26164635 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26163994 26164635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2616777 2616877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 26193855 26214904 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 26195427 26208301 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26195488 26204804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26195488 26204804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26212083 26212497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26212083 26212497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26212155 26212544 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26212343 27387807 LOH Normal High-resolution SNP genotyping 21211785 chr6 26212343 28040170 LOH Normal High-resolution SNP genotyping 21211785 chr6 26212343 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 26215626 26216343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26215626 26216343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26215677 26216300 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26220383 26413386 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 26220872 26335083 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 26222612 26232133 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26223108 26232133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26223108 26232133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26232352 26292434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26232352 26292434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26232397 26247315 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26236782 26851694 LOH Normal High-resolution SNP genotyping 21211785 chr6 26240643 26359580 Gain Autism qPCR 20531469 chr6 26242286 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 26244022 27406438 LOH Normal High-resolution SNP genotyping 21211785 chr6 26248293 27413531 LOH Normal High-resolution SNP genotyping 21211785 chr6 2625384 2625452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 26264538 26265322 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26264566 26265303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26264566 26265303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26266328 26279553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26266328 26279553 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26266328 26279553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26272244 26272530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26274902 26275256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 26282141 27622226 LOH Normal High-resolution SNP genotyping 21211785 chr6 26284010 27408424 LOH Normal High-resolution SNP genotyping 21211785 chr6 26284010 27411311 LOH Normal High-resolution SNP genotyping 21211785 chr6 26291937 26292433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26291937 26292433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26292003 26292437 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26292699 26295208 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 26296972 26297283 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26296972 26297283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26303773 26303978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26304961 26307450 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26305047 26307500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26305047 26307500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26306025 26343294 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 26307727 26308921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26307727 26308921 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26307727 26308921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26310363 26310860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26311839 26311939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 26312817 26314243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26312817 26314243 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26312817 26314243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26313038 26314278 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 26313723 26315287 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 26315287 28072513 LOH Normal High-resolution SNP genotyping 21211785 chr6 26324470 26324850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26324470 26324850 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26324470 26324850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26325126 26325690 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 26325127 26325690 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26325144 26325690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26325144 26325690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26333362 26333823 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26333362 26333823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26341329 26341462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26342475 26343140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26342475 26343140 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26342475 26343140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26345000 26368000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr6 26348540 26348955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26348540 26348955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26348633 26348994 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26350000 26990000 Loss Breast cancer aCGH 21509527 chr6 26354888 26355184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26354888 26355184 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26354888 26355184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26358402 26358812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26358402 26358812 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26358402 26358812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26359858 26360238 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26359858 26360282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26359858 26360282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26378693 26378845 Gain Normal 244K array 17666407 chr6 26379181 26379591 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26379181 26379591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26380400 26380747 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26380400 26380747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 263804 281809 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 26381123 26381601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26381123 26381601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26381183 26381619 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26384755 26384845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 26389262 26393741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26389262 26393741 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26389262 26393741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2639727 2639800 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr6 2639790 2639903 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr6 26400022 26828362 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 26429572 26462070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 26430083 26430499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26447720 27413531 LOH Normal High-resolution SNP genotyping 21211785 chr6 26447720 28148736 LOH Normal High-resolution SNP genotyping 21211785 chr6 26447720 28218292 LOH Normal High-resolution SNP genotyping 21211785 chr6 26448155 26469510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 26448886 27413531 LOH Normal High-resolution SNP genotyping 21211785 chr6 26449025 27410862 LOH Normal High-resolution SNP genotyping 21211785 chr6 26449025 27411311 LOH Normal High-resolution SNP genotyping 21211785 chr6 26449025 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 26451200 27387807 LOH Normal High-resolution SNP genotyping 21211785 chr6 26451200 27413531 LOH Normal High-resolution SNP genotyping 21211785 chr6 26451805 26459549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 26461178 26461242 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26461178 26461242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26472866 26478683 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 26473374 26484419 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26473377 26486527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26473377 26486527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26473683 26473759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26491333 26503077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26491333 26503077 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26491333 26503077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26498731 26499032 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr6 26500703 27325021 LOH Normal High-resolution SNP genotyping 21211785 chr6 26510460 26523421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26510460 26523421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26510465 26523414 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26529618 26539822 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26529618 26540321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26529618 26540321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26548464 28204217 LOH Normal High-resolution SNP genotyping 21211785 chr6 26548742 26561621 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26548742 26561629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26548742 26561629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26566168 26577844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26566168 26577844 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26566168 26577844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26608550 26618629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26608550 26618629 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26608550 26618629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26622197 26622297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 26627558 26627665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26627561 26627665 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26627562 26627665 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26646551 26655139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26646551 26655139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26646551 26655141 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26656855 26656955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 26660685 26660756 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26660685 26660756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26667160 26667231 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26667160 26667231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26690349 27402935 LOH Normal High-resolution SNP genotyping 21211785 chr6 26690349 27412458 LOH Normal High-resolution SNP genotyping 21211785 chr6 26690349 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 26692149 26992489 Copy number Normal Quantitative Real-Time PCR 17666543 chr6 26692151 27260363 LOH Normal High-resolution SNP genotyping 21211785 chr6 26692151 27413531 LOH Normal High-resolution SNP genotyping 21211785 chr6 26705159 26708257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26705159 26708257 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26705159 26708257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26738761 26739986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26742600 26767942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 26742600 26767942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26744498 26767742 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26751871 26794883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 26764691 26766645 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 26765313 26811568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 26766655 26802577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 26773322 27413531 LOH Normal High-resolution SNP genotyping 21211785 chr6 26774436 27413531 LOH Normal High-resolution SNP genotyping 21211785 chr6 26774436 27438215 LOH Normal High-resolution SNP genotyping 21211785 chr6 26783887 26806986 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 26789888 26873035 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26789888 26891634 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26789888 26951938 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 26789888 27049482 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26799621 26876536 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26801198 27203693 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 26806263 26806319 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26806263 26806319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26806707 26891634 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26808351 26868462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 26811045 27054910 Loss Normal 244K array 17666407 chr6 26812795 26836619 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 26821880 26821949 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26821880 26821949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26828362 29855298 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 26830076 26865677 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 26830076 26865677 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 26836607 26873035 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26836607 26876536 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26836607 26881030 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26836607 26891634 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 26836619 26840370 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 26840370 26845010 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 26845010 26845011 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 26845011 26876548 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 26845011 26876548 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 26845425 26860002 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 26851694 26860704 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 26851694 26860704 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 26851694 26993547 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 26851886 26853149 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 26851889 26853152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 26860609 26860682 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26860609 26860682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26860704 27671559 LOH Normal High-resolution SNP genotyping 21211785 chr6 26868454 26882769 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 26869492 26993547 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 26876548 26881488 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 26878702 26883319 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 26881488 26891646 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 26891646 26907945 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 26891664 26993547 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 26891664 27413531 LOH Normal High-resolution SNP genotyping 21211785 chr6 26896135 26896204 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26896135 26896204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26936643 27056174 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr6 26947244 27032312 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr6 26953700 27000971 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26953700 27000971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26954257 27595635 LOH Normal High-resolution SNP genotyping 21211785 chr6 26963001 26965000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 26971751 26976500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 26972102 26974646 Gain and loss Pancreatic cancer SNP array 17952125 chr6 26972105 26973718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26973653 26974535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26974469 26975355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26975290 26975965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 26993547 27595635 LOH Normal High-resolution SNP genotyping 21211785 chr6 26993547 28142662 LOH Normal High-resolution SNP genotyping 21211785 chr6 27000000 30400000 Copy number Schizophrenia Affymetrix 6.0 array 19571809 chr6 27000000 36600000 Copy number Schizophrenia References 19571808 chr6 27000000 57000000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr6 27000000 58700000 Amplification Neuroblastoma References 16790693 chr6 2700000 3270000 Gain Breast cancer aCGH 21509527 chr6 27002161 27885459 LOH Normal High-resolution SNP genotyping 21211785 chr6 27007859 27007959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2702842 2702935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27033029 27203693 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 2710665 2730977 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2710665 2731926 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 2710665 2731926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 2710665 2731926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27107536 27115092 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 27109193 27110068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27121202 27121297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27136123 27137007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27159038 27159905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27184702 27186399 Loss Normal 244K array 17666407 chr6 27185548 27185738 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27185548 27185738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27185551 27185738 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27189599 27189644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27202037 27208520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27202037 27208520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27203152 27203252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27203854 28120510 LOH Normal High-resolution SNP genotyping 21211785 chr6 27208128 27208508 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27208800 27211049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27208800 27211049 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27208800 27211049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27212160 28751767 LOH Normal High-resolution SNP genotyping 21211785 chr6 27213778 28837134 LOH Normal High-resolution SNP genotyping 21211785 chr6 27214052 27222598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27214052 27222598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27215038 27216264 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27215039 27216264 Amplification or deletion Cancer Array CGH 17440070 chr6 27215055 27216397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27215055 27216397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27222176 27222556 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27222840 27223296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27222840 27223296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27222887 27223325 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27229304 27229304 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 272577 278496 Gain Normal TaqMan assays 20972442 chr6 27287002 27287642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27323487 27332228 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27323487 27332327 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27323487 27332327 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27329183 27993375 LOH Normal High-resolution SNP genotyping 21211785 chr6 2732924 2743224 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 27336689 27336763 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27336689 27336763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27343910 27344990 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2734577 2734672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27349113 27993115 LOH Normal High-resolution SNP genotyping 21211785 chr6 27356831 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27359843 27359916 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27359843 27359916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27369650 27369723 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27369650 27369723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27381489 27993115 LOH Normal High-resolution SNP genotyping 21211785 chr6 27381489 27994112 LOH Normal High-resolution SNP genotyping 21211785 chr6 27384811 27387980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27384811 27387980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27384821 27387928 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27388173 27395444 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 27392633 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27394442 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27394720 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27394939 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27395444 27975846 LOH Normal High-resolution SNP genotyping 21211785 chr6 27395444 27977455 LOH Normal High-resolution SNP genotyping 21211785 chr6 27395444 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27395846 27977455 LOH Normal High-resolution SNP genotyping 21211785 chr6 27395846 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27395846 28556383 LOH Normal High-resolution SNP genotyping 21211785 chr6 27395846 28573013 LOH Normal High-resolution SNP genotyping 21211785 chr6 27400540 27401610 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27400540 27401610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27404346 27977455 LOH Normal High-resolution SNP genotyping 21211785 chr6 27413531 28089585 LOH Normal High-resolution SNP genotyping 21211785 chr6 27419284 27975846 LOH Normal High-resolution SNP genotyping 21211785 chr6 27419284 27977455 LOH Normal High-resolution SNP genotyping 21211785 chr6 27419284 28089891 LOH Normal High-resolution SNP genotyping 21211785 chr6 27433584 27447283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27433584 27447283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27447133 28072513 LOH Normal High-resolution SNP genotyping 21211785 chr6 27453596 27486004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 27464503 27477206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27464503 27477206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27464517 27466692 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27466477 27512053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 27476210 27477205 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27481726 27482091 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27483485 27483754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27483485 27483754 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27483485 27483754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27526506 27548858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27526506 27548858 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27526506 27548858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27583685 28433499 LOH Normal High-resolution SNP genotyping 21211785 chr6 27583685 28556383 LOH Normal High-resolution SNP genotyping 21211785 chr6 27583685 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 27583685 29463485 LOH Normal High-resolution SNP genotyping 21211785 chr6 27591795 27719987 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 27592082 28320597 LOH Normal High-resolution SNP genotyping 21211785 chr6 27592082 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27592082 28556383 LOH Normal High-resolution SNP genotyping 21211785 chr6 27592082 28781089 LOH Normal High-resolution SNP genotyping 21211785 chr6 27592082 29462580 LOH Normal High-resolution SNP genotyping 21211785 chr6 27594486 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27595635 28111252 LOH Normal High-resolution SNP genotyping 21211785 chr6 27595635 28556383 LOH Normal High-resolution SNP genotyping 21211785 chr6 27595635 28781089 LOH Normal High-resolution SNP genotyping 21211785 chr6 27595635 29462689 LOH Normal High-resolution SNP genotyping 21211785 chr6 27595635 29463517 LOH Normal High-resolution SNP genotyping 21211785 chr6 27595635 29507705 LOH Normal High-resolution SNP genotyping 21211785 chr6 27598834 27600097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27636581 27637502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27672170 27672275 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27672170 27672275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27672241 27672320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27696101 28511393 LOH Normal High-resolution SNP genotyping 21211785 chr6 27702251 28708618 LOH Normal High-resolution SNP genotyping 21211785 chr6 27710991 28320597 LOH Normal High-resolution SNP genotyping 21211785 chr6 27728358 27728583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27732217 28320597 LOH Normal High-resolution SNP genotyping 21211785 chr6 27732217 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 27734345 28320597 LOH Normal High-resolution SNP genotyping 21211785 chr6 2773893 2774014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27752731 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 27777050 27777150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27782160 28282934 LOH Normal High-resolution SNP genotyping 21211785 chr6 27782160 28362993 LOH Normal High-resolution SNP genotyping 21211785 chr6 2778641 2787208 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 2778735 2787080 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2778735 2787095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 2778735 2787095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27797481 28338696 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 27812333 27814252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27812789 27814110 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27817414 28619050 LOH Normal High-resolution SNP genotyping 21211785 chr6 27817414 28755395 LOH Normal High-resolution SNP genotyping 21211785 chr6 27833223 28781089 LOH Normal High-resolution SNP genotyping 21211785 chr6 27833223 28784112 LOH Normal High-resolution SNP genotyping 21211785 chr6 278497 285606 Duplication Normal TaqMan assays 20972442 chr6 27855974 28725518 LOH Normal High-resolution SNP genotyping 21211785 chr6 27855974 28784112 LOH Normal High-resolution SNP genotyping 21211785 chr6 27856378 27856869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27857705 28556383 LOH Normal High-resolution SNP genotyping 21211785 chr6 27870166 28498379 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 2787322 31650077 Gain or loss Breast cancer - 20668451 chr6 2787322 31650077 Gain or loss Cancer - 20668451 chr6 2787322 31650077 Gain or loss Lung cancer - 20668451 chr6 2787322 31650077 Gain or loss Ovarian cancer - 20668451 chr6 2787322 31650077 Gain or loss Pancreas cancer - 20668451 chr6 2787322 31650077 Gain or loss Prostate cancer - 20668451 chr6 27882815 27883093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27883201 27883688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27883201 27883688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27883283 27883663 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27883878 27884408 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27883878 27884408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27883949 27886604 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27885821 27969644 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27885821 27969644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27890111 27890497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27890111 27890497 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27890111 27890497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27890801 27891213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27890801 27891213 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27890801 27891213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27896481 28524579 LOH Normal High-resolution SNP genotyping 21211785 chr6 27899863 27900236 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27899863 27900236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27906973 27907284 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27906973 27907284 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27906973 27907284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2790934 31654091 Gain or loss Breast cancer - 20668451 chr6 2790934 31654091 Gain or loss Cancer - 20668451 chr6 2790934 31654091 Gain or loss Lung cancer - 20668451 chr6 2790934 31654091 Gain or loss Ovarian cancer - 20668451 chr6 2790934 31654091 Gain or loss Pancreas cancer - 20668451 chr6 2790934 31654091 Gain or loss Prostate cancer - 20668451 chr6 27913517 27915239 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27913704 27914096 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27913704 27914096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27914302 27927953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27914302 27927953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27918057 27918207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 27939819 27940158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27940000 57390000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr6 27941013 27941585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27941086 27941555 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27942548 27943338 Gain or loss Breast cancer - 20668451 chr6 27942548 27943338 Gain or loss Cancer - 20668451 chr6 27942548 27943338 Gain or loss Lung cancer - 20668451 chr6 27942548 27943338 Gain or loss Ovarian cancer - 20668451 chr6 27942548 27943338 Gain or loss Pancreas cancer - 20668451 chr6 27942548 27943338 Gain or loss Prostate cancer - 20668451 chr6 27942606 27943286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27942606 27943286 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27942606 27943286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27947662 27948072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27947662 27948072 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27947662 27948072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27948956 27949267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27948956 27949267 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27948956 27949267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27954351 27954575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27966139 27966549 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27966139 27966549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27968514 27968906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27968514 27968906 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27968514 27968906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27969182 27970933 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27969199 27969631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27969199 27969631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 27969469 28011774 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 27969469 28011774 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 27973261 27973322 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27986948 29463961 LOH Normal High-resolution SNP genotyping 21211785 chr6 27987003 27988076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 27987003 27988076 Gain and loss Pancreatic cancer SNP array 17952125 chr6 27987003 27988076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28012712 28014160 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28012712 28014160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28032998 28033939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28032998 28033939 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28032998 28033939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28040932 28041213 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28040932 28041271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28052907 28053832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28055657 28073548 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 28061034 28061134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 28086480 28088101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28089585 28122257 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 28091325 28091532 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28091325 28091532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28091325 28091534 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28100000 34600000 Deletion Severe combined immunodeficiency Affymetrix Human Mapping SNP 6.0 GeneChip 19097825 chr6 28109704 28110612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28115406 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 28122191 28123100 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28122191 28123100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28128985 28129922 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28128985 28129922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28132920 28132976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 28147279 28840937 LOH Normal High-resolution SNP genotyping 21211785 chr6 28149073 28149990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28149073 28150086 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28152325 28157022 Gain Normal 244K array 17666407 chr6 28154551 28165317 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28154551 28165320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28154551 28165320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28168305 28168598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28172868 28173126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 281809 288144 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 28191385 28192308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28200000 34000000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr6 28200366 28205833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28200366 28205833 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28200366 28205833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28217695 28231775 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28217695 28233215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28217695 28233215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28219251 28219333 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28219251 28219333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28251945 28252431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28263807 28265189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28293877 28294248 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28293877 28294248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28298175 28298511 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 28301049 28309239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28301049 28309239 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28301049 28309239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28315355 28315455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 28320388 28328023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28320388 28328023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28320469 28327981 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28320936 29052673 LOH Normal High-resolution SNP genotyping 21211785 chr6 2832507 2848506 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 2832507 2848506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 2832507 2848506 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2832507 2848506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28335077 28336715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28335077 28336715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28335124 28336714 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28336523 28342457 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 28342815 28353957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28342815 28353957 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28342815 28353957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28357328 28378305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28357328 28378305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28357343 28378304 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28369635 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 28369635 29463485 LOH Normal High-resolution SNP genotyping 21211785 chr6 28375489 28434520 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28400493 28429951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28400493 28429951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28400496 28432027 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28413744 28413844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 28415598 28415698 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 28425738 28444527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28425738 28444527 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28425738 28444527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28427686 29208329 LOH Normal High-resolution SNP genotyping 21211785 chr6 28431727 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 28431727 29407162 LOH Normal High-resolution SNP genotyping 21211785 chr6 28438095 28438180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 28439270 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 28454711 28475490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28454711 28475490 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28454711 28475490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28491417 28491517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 28508412 28511989 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28508412 28519223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28522729 28523563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28522729 28523563 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28522729 28523563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28524527 28557977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 28531404 28531897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28549849 29675608 LOH Normal High-resolution SNP genotyping 21211785 chr6 28556482 28556554 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28556482 28556554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28579052 28591549 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28579052 28611674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28579052 28611674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28594935 29463485 LOH Normal High-resolution SNP genotyping 21211785 chr6 28601768 28609923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28601768 28609923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28601768 28610707 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28603299 29235738 LOH Normal High-resolution SNP genotyping 21211785 chr6 28603299 29641561 LOH Normal High-resolution SNP genotyping 21211785 chr6 28603299 29718434 LOH Normal High-resolution SNP genotyping 21211785 chr6 28606418 28606490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 28630217 29595744 LOH Normal High-resolution SNP genotyping 21211785 chr6 28647387 28663091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28647387 28663091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28647667 28663046 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28709838 28709909 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28709838 28709909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28712478 29751367 LOH Normal High-resolution SNP genotyping 21211785 chr6 28768966 28769039 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28768966 28769039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28775943 29463485 LOH Normal High-resolution SNP genotyping 21211785 chr6 28776876 29463485 LOH Normal High-resolution SNP genotyping 21211785 chr6 28776876 29463961 LOH Normal High-resolution SNP genotyping 21211785 chr6 28778308 29479121 LOH Normal High-resolution SNP genotyping 21211785 chr6 28778832 28778897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 28802834 28802906 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28802834 28802906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28807773 28808660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2881246 31748206 Gain or loss Breast cancer - 20668451 chr6 2881246 31748206 Gain or loss Cancer - 20668451 chr6 2881246 31748206 Gain or loss Lung cancer - 20668451 chr6 2881246 31748206 Gain or loss Ovarian cancer - 20668451 chr6 2881246 31748206 Gain or loss Pancreas cancer - 20668451 chr6 2881246 31748206 Gain or loss Prostate cancer - 20668451 chr6 2881246 31748206 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 288144 296376 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 28840418 29458210 LOH Normal High-resolution SNP genotyping 21211785 chr6 28840418 29459691 LOH Normal High-resolution SNP genotyping 21211785 chr6 28849200 29463517 LOH Normal High-resolution SNP genotyping 21211785 chr6 28849200 29641561 LOH Normal High-resolution SNP genotyping 21211785 chr6 28851672 28851779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28859389 28859760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28859389 28859760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28859389 28859763 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2893392 2917089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 2893392 2917089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2893392 2917398 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 2893393 2917398 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28937172 28937791 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28937172 28937791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28962082 30471380 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-544K arrays 21546498 chr6 28964588 28965662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28977339 29011880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 28978758 28999747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 28978758 28999747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 28979826 28999746 Gain and loss Pancreatic cancer SNP array 17952125 chr6 28991401 28991500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29005448 29005992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29019639 29020043 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29019660 29020292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29020000 30300000 Loss Breast cancer aCGH 21509527 chr6 29044886 29046216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29053231 29053526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29053231 29053528 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29070542 29081072 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29070573 29081016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29080190 29080294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29102436 29103363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 291085 320803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 29119093 29119243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29119969 29120931 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29119969 29120996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29147580 29148355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29152329 29152924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29152667 29152924 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29162063 29163004 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29162063 29163069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29165099 29165342 Gain Normal 244K array 17666407 chr6 29171189 29177868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29173301 29173391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29175162 29175384 Loss Normal 244K array 17666407 chr6 29176699 29177637 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29187647 29188582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29187647 29188582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29187659 29188573 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29188328 29432578 Copy number Normal - 20703242 chr6 29192066 29204012 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 29196767 29196861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29201322 29276187 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29201322 29279424 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29201322 29279424 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29204012 29269414 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 29204157 29281041 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29204157 29281041 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29206860 29269414 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 29211040 29211111 Loss Normal 244K array 17666407 chr6 29213626 29214572 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29213626 29214572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29235738 29243215 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29235738 29244800 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29238108 29459691 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29243215 29852924 LOH Normal High-resolution SNP genotyping 21211785 chr6 29243215 29902678 LOH Normal High-resolution SNP genotyping 21211785 chr6 29243215 29961732 LOH Normal High-resolution SNP genotyping 21211785 chr6 29249059 29250330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29249059 29250330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29249392 29250330 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29257266 29258201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29276501 29279000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 29290992 29291935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29291001 29291926 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29304983 29305901 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29304992 29305913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2930718 31793560 Copy number Lung cancer - 20668451 chr6 2930718 31793560 Gain or loss Breast cancer - 20668451 chr6 2930718 31793560 Gain or loss Cancer - 20668451 chr6 2930718 31793560 Gain or loss Lung cancer - 20668451 chr6 2930718 31793560 Gain or loss Ovarian cancer - 20668451 chr6 2930718 31793560 Gain or loss Pancreas cancer - 20668451 chr6 2930718 31793560 Gain or loss Prostate cancer - 20668451 chr6 2933659 2936399 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29338459 29339835 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29338459 29339835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2933881 2936302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 2933881 2936302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29342489 29902876 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 29344236 29525854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29344236 29525854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29361735 32298598 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr6 29366467 29367391 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29366467 29367409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29382446 29383411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29382446 29383411 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29382446 29383411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29386674 29386774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29391513 29391663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2939231 2964995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 2939231 2964995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29405382 29406817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29430986 29431951 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2943539 2976557 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 29450093 29451043 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2945207 2964995 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29459691 29488877 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29462689 29464438 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29462783 29463961 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29463109 29464076 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29471877 29472019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29472395 29473427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29472456 29473379 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29493036 29516677 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29493036 29516710 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29493036 29516710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2949707 2949802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29498470 29498533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29501260 29532827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29502504 29503382 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29532937 29540084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29532937 29540084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29535527 29539961 Gain and loss Pancreatic cancer SNP array 17952125 chr6 295373 320818 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 29540352 29545562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29542961 29543007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29550781 29551827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29550781 29551827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2955358 31840603 Gain or loss Breast cancer - 20668451 chr6 2955358 31840603 Gain or loss Cancer - 20668451 chr6 2955358 31840603 Gain or loss Lung cancer - 20668451 chr6 2955358 31840603 Gain or loss Ovarian cancer - 20668451 chr6 2955358 31840603 Gain or loss Pancreas cancer - 20668451 chr6 2955358 31840603 Gain or loss Prostate cancer - 20668451 chr6 29562522 29563658 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29562522 29563658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29565027 29565390 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29565027 29565390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29574397 29574497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29575501 29604500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 29577080 29780644 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 29604501 29609000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 296089 3341581 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 29609001 29963000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 29613460 29614543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29619625 29712971 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 29621066 29621379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29628975 29629922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29628990 29629922 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29631368 29708839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29631368 29708839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29631387 29635681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29631387 29708839 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29635386 29674425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 296376 318453 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 29649665 29650592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29649826 29664453 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29653215 29653504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29658005 29658088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29658006 29658087 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29658264 29658707 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29658264 29658707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29663662 29664724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29680493 29680585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 2968296 2968856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29711816 29712099 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29711816 29712099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29732788 29748128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29732788 29748128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29732804 29757888 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29748239 29766468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 29748239 29766468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29748256 29766468 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29758399 29759064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29761933 30031389 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 29761933 30036820 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 29783881 29784303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29791401 29798000 Deletion Glioma mate-paired sequence 20126413 chr6 29793449 29796059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29797569 30592015 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 29798290 29798370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29798531 29803862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29798737 29799727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29799164 29803051 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29802359 29824805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29818755 29818855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29824045 29824269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29826127 29826226 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29826127 29826228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29826485 29826904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29849122 29850609 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29852924 29854174 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29852924 29854174 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29867509 29868506 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29867509 29868506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29867662 29873559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29867662 29873561 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29871277 29871487 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29876197 29878203 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29878951 29879750 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29878951 29879759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29888321 29888452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29892181 29894455 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29900000 31900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 29900000 36800000 Copy number Normal - 21701786 chr6 29900000 36800000 Deletion Medulloblastoma SNP arrays 21979893 chr6 29900000 36800000 Gain Breast cancer - 16397240 chr6 29900000 36800000 Gain Hepatocellular carcinoma Array CGH 16750200 chr6 29900000 36800000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 chr6 29900000 36800000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 29900000 36800000 Low copy numbers Systemic lupus erythematosus - 20877625 chr6 29900000 45200000 Deletion Cleidocranial dysplasia Real time quantitative PCR 18696259 chr6 29900000 45200000 Gain Holoprosencephaly Array CGH 21359414 chr6 29900000 45200000 Gain Liposarcoma FISH, CGH 21253554 chr6 29900000 45200000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr6 29900000 45200000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr6 29900000 45200000 Rearrangement Fibroblasts Affymetrix GeneChip, quantitative real-time PCR 20926602 chr6 29900413 30000296 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 29900413 30000296 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 29900413 30083123 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr6 29900413 30083123 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 29900413 30083123 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 29902678 29909051 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29902723 29906892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29902743 30085710 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29903141 29904120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 2990617 2991033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 2990617 2991033 Gain and loss Pancreatic cancer SNP array 17952125 chr6 2990617 2991033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29909378 29912149 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29909738 29925938 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29921301 29925400 Deletion Glioma mate-paired sequence 20126413 chr6 29922963 29923458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 29928119 29928247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29939288 30004636 Deletion Rett syndrome References 21593744 chr6 29939695 30052082 Loss or gain Normal 244K array 17666407 chr6 29940445 29986006 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29940445 29986006 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29940661 29986006 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29940661 29986006 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29940661 29987257 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29940661 29987257 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29940661 29987708 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29940661 29987708 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 2994067 2994444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29940846 29945167 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 29941046 29984686 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29941046 30019376 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29941822 29987598 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29941841 29944201 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29945052 30022593 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 29945122 30012843 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 29945166 30012844 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 29945166 30015734 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 29945171 29948930 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 29945171 30029106 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 29945293 30034440 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 29946438 30036537 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 29948866 29977590 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29948930 30029106 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 299491 299575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 29949837 29980577 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29949864 29967114 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr6 29949931 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29950060 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29950060 30036553 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29950301 29958900 Deletion Glioma mate-paired sequence 20126413 chr6 29950729 29957728 Loss Normal TaqMan assays 20972442 chr6 29950994 30019307 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr6 29955578 30006902 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29955578 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29957617 30016598 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29957644 30007069 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29957907 29982221 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29957907 29982221 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29958207 29982862 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29958207 29982862 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958207 30004818 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958207 30005808 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958207 30007069 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958207 30013732 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29958207 30013732 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958207 30016598 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958207 30017662 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29958207 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958207 30036553 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958207 30045808 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29958207 30045808 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958253 30016448 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 29958280 29982221 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29958280 29982862 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29958280 29982992 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29958280 30005808 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958280 30013732 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958280 30013732 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 29958280 30013732 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 29958280 30015305 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958280 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958280 30017970 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958571 29974112 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958571 30015305 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29958571 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29959354 30013732 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29959354 30013732 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 29959354 30013732 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 29959354 30015305 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29959354 30017662 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29959354 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29959944 30006902 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29960095 29983514 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29960095 30013732 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 29960095 30013732 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 29960202 30007069 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29960202 30015305 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29960408 30004818 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29961595 29962801 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29961732 29962892 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29961732 29962892 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29961732 29963170 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29962306 29984563 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29962306 29984563 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962306 29985098 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962428 30013732 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962428 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962546 30638184 LOH Normal High-resolution SNP genotyping 21211785 chr6 29962644 30013732 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962878 29981959 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr6 29962892 29986414 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962892 30004818 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962892 30005808 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962892 30006902 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29962892 30006902 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962998 30004818 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29962998 30004818 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962998 30006902 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962998 30013732 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29962998 30013732 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962998 30017662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29962998 30033873 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29963001 29964500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 29963050 29964024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29963170 30638184 LOH Normal High-resolution SNP genotyping 21211785 chr6 29963368 29966825 Gain and loss Pancreatic cancer SNP array 17952125 chr6 29963368 29966825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29964501 30018000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 29964802 30006902 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29965647 29987598 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29965847 29986006 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29968384 30023282 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 29972410 29973542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29972413 30007069 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29972413 30016598 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29972460 29975117 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29972460 29975117 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29973535 29975952 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29973535 29975952 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29977026 30004818 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29977026 30004818 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29978592 30007069 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 29979580 29995580 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29979615 30012844 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 29979615 30016448 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 29979615 30022594 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 29980339 30013732 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29982299 29982665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29983201 29985698 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 29983539 29984401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 29984332 30018281 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29984563 30013732 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 29989049 30638184 LOH Normal High-resolution SNP genotyping 21211785 chr6 29998482 29998669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 30001739 30002729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30002127 30002729 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30002215 30004988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30007748 30009505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 30007763 30009581 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr6 30009857 30010042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30009964 30019219 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 30016839 30019208 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 30017016 30021640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30017016 30021640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30017831 30018823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30018001 30020500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30018310 30021041 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30018513 30020442 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 30019208 30825169 LOH Normal High-resolution SNP genotyping 21211785 chr6 30019208 31040167 LOH Normal High-resolution SNP genotyping 21211785 chr6 30020442 30847028 LOH Normal High-resolution SNP genotyping 21211785 chr6 30020442 30848316 LOH Normal High-resolution SNP genotyping 21211785 chr6 30020442 31040167 LOH Normal High-resolution SNP genotyping 21211785 chr6 30020501 30082000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30023207 30638184 LOH Normal High-resolution SNP genotyping 21211785 chr6 30025760 30025834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 30028974 30031847 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 30032352 30034326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30046557 30048220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30047553 30048199 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30050848 30054175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30050871 30054148 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30068965 30069361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30069810 30069885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 30070193 30071070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30076768 30136900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30081877 30082872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30082001 30084500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30082339 30085708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30085931 30095973 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr6 3009120 3060420 Gain or loss Breast cancer - 20668451 chr6 3009120 3060420 Gain or loss Cancer - 20668451 chr6 3009120 3060420 Gain or loss Lung cancer - 20668451 chr6 3009120 3060420 Gain or loss Ovarian cancer - 20668451 chr6 3009120 3060420 Gain or loss Pancreas cancer - 20668451 chr6 3009120 3060420 Gain or loss Prostate cancer - 20668451 chr6 30107469 30108759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30111820 30117794 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 30130358 30136935 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30131352 30131413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 30132509 30136735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30137013 30140665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30137015 30140664 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3013740 3060420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 3013740 3060420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30140858 31996998 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 30142465 30146089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30142465 30146089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30142968 30146085 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30143000 30911000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr6 30146023 30151607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30146023 30151607 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30146023 30151607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30174746 30677172 LOH Normal High-resolution SNP genotyping 21211785 chr6 30178655 30188833 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30178655 30188846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30178655 30188846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30185577 30872642 LOH Normal High-resolution SNP genotyping 21211785 chr6 30185577 30873604 LOH Normal High-resolution SNP genotyping 21211785 chr6 30211864 30224491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30212487 30224491 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3022057 3059173 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30227705 30236690 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30227705 30236690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30238962 30248445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30238970 30248445 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3025072 3025130 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3025072 3025130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30260211 30289183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30260213 30289104 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30262554 30264370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30314057 30318035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30315787 30316200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 30329949 30917887 LOH Normal High-resolution SNP genotyping 21211785 chr6 30335001 30337500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30335353 30342707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30338499 30338570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 3033919 3034042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3033953 3034042 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3033953 3034042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 303530 317935 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 30360104 30360468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30392972 30393024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 30400000 36600000 Amplification Acute myocardial infarction ABI 7300 Real-Time PCR System 18032375 chr6 30400000 36600000 Amplification Retinoblastoma References 16790693 chr6 30400000 36600000 Copy number Attention deficit hyperactivity disorder - 19287146 chr6 30400000 36600000 Copy number Autism - 19287146 chr6 30400000 36600000 Copy number Autoimmune disease TaqI RFLP 19135723 chr6 30400000 36600000 Copy number Erythema nodosum in leprosy - 19287146 chr6 30400000 36600000 Copy number Henoch-schoenlein purpura - 19287146 chr6 30400000 36600000 Copy number Liver cirrhosis - 19287146 chr6 30400000 36600000 Copy number Renal cell carcinoma quantification of RCCX modules 19150565 chr6 30400000 36600000 Copy number Systemic lupus erythematosus - 19287146 chr6 30400000 36600000 Copy number Systemic lupus erythematosus A multiplex SSP-PCR 19279649 chr6 30400000 36600000 Copy number Systemic lupus erythematosus References 19591781 chr6 30400000 36600000 Duplication Congenital adrenal hyperplasia Real-Time PCR 18478071 chr6 30400000 36600000 Gain Systemic lupus erythematosus References 19287147 chr6 30400000 57000000 Gain Osteosarcoma References 16790693 chr6 30402600 30419485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30402600 30419485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30403015 30419484 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30408880 30443412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 30420923 30422613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30420923 30422613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30420925 30422649 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30427172 30427306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30435034 30435667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30438868 30440036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30451615 30456732 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 30490471 30495075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30490522 30492368 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30526144 30542378 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 30537215 31086878 LOH Normal High-resolution SNP genotyping 21211785 chr6 30540739 31238707 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-523K arrays 21546498 chr6 30542208 30543750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30544638 30546007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30545379 30546007 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30561674 30562362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30561696 30562025 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30565265 30569063 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30565288 30569955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30566493 30566593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 30569557 30600190 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 30571478 30571578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 30581517 30581617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 30618133 30618456 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30621675 30632987 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30621675 30632987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30631412 30975910 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30632642 30639477 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30632735 30640159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3063609 3098427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 3063609 3098427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3063961 3098261 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30647148 30667288 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 30647149 30667067 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30647149 30667286 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30647149 30667286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30653090 30697782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 30660088 30660173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30676162 30692999 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30676162 30692999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30691985 30692061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30693464 30702153 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 30693585 30702148 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30693585 30702151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30693585 30702151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30702592 30722575 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30702598 30722582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30702598 30722582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30709388 30709654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30722835 30728859 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30722988 30728959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30722988 30728959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30728886 30748736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30728886 30748736 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30728886 30748736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30752145 30763651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30752147 30763651 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30752672 30924298 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 30763803 30767176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30763806 30767176 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30772562 30773291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30775564 30790936 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30775564 30793437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30780001 30781500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30781501 30958000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30796113 30801172 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30796136 30801182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30796136 30801182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30803492 30818432 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30803492 30818443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30812062 30812170 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30818955 30820306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30818955 30820306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30818956 30820303 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30822392 32895237 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr6 30882394 30891410 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 30888622 30906415 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30888622 30906415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3090001 3092000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 3092001 3173500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30924698 30924798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 30940006 30940308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30940006 30940328 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30942330 30975481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 30948376 30948455 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 30956784 30975912 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30956784 30975912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30958001 30970000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30970001 31101500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 30983956 30989862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30983984 30989858 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3098903 3102759 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3098918 3102808 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 3098918 3102808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30989961 31002212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 30989961 31002212 Gain and loss Pancreatic cancer SNP array 17952125 chr6 30989961 31002212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 30994410 30994549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 30996005 31010589 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3099871 3099981 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3099877 3099981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31000000 32000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr6 31007111 31007931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31007116 31007931 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31007155 31476070 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 31026879 31029977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31026879 31029977 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31026879 31029977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31059474 31065654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31065597 31554775 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 3109000 3130305 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr6 31101501 31105500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 31101557 32321008 LOH Normal High-resolution SNP genotyping 21211785 chr6 31101986 31103059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 31104396 31680920 LOH Normal High-resolution SNP genotyping 21211785 chr6 31105501 31851500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 31120811 31120899 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 31129962 31135632 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31131241 31131636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 3113598 3113989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31136269 31340566 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31136269 31342560 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31136269 31460757 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31148785 32005701 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr6 31149367 31153368 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 31158766 31158865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31186982 31188315 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31186982 31188315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31190601 31215816 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31190602 31215816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31190602 31215816 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31190602 31215816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31190849 31196202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31190849 31196202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31191340 31196189 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31202824 31217990 Loss Normal 244K array 17666407 chr6 31213292 31215106 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31213292 31215106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31216483 31216669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31218194 31233994 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31218195 31233969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31218195 31233969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31218196 31233950 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31222452 31226552 Gain Normal 244K array 17666407 chr6 3122277 3124997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3122590 3122700 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3122590 3122700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3122596 3122700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31234282 31239971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31234282 31239971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31234294 31239970 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31240092 31246430 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31240094 31246430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31240094 31246430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31240094 31246432 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31249483 31358597 Loss or gain Normal 244K array 17666407 chr6 31249491 31253655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31251525 31784875 LOH Normal High-resolution SNP genotyping 21211785 chr6 31273515 31279723 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31273516 31279723 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31273516 31279723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31301055 31302293 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 31301055 31302293 Loss Normal aCGH 21627829 chr6 31301239 31302656 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr6 31308096 31314151 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31317901 31322900 Deletion Glioma mate-paired sequence 20126413 chr6 31319596 31321095 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 31327497 31337770 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 31338567 31342560 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31338567 31460757 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31338567 31605085 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr6 31338709 31348656 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31340561 31605085 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31344505 31432935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31344507 31347834 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31344607 31345748 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31345463 31346242 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31345463 31346242 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31345640 31346374 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31345640 31346374 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31345640 31348258 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31345640 31348258 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31345748 32321008 LOH Normal High-resolution SNP genotyping 21211785 chr6 31351338 31352625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31351351 31361665 Loss Normal 244K array 17666407 chr6 31351685 31351745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31356073 31357254 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31356073 31357275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31363266 31364720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31378345 31379949 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 31378345 31387412 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 31379607 31387591 Loss or gain Normal 244K array 17666407 chr6 31383242 31386392 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 31383242 31386392 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 31383484 31561647 Loss or gain Normal 244K array 17666407 chr6 31383571 31384305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31383935 31387290 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31387290 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31389180 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31389180 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31389807 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31389807 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31396543 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31397295 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31383935 31397295 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31397354 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31383935 31397720 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 31383960 31387412 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 31384505 31397416 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 31385665 31388802 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 31387290 31397295 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31387290 31397295 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31387290 31397295 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 31387290 31397295 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 31387290 31402362 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31387290 31402362 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31387290 31404289 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31387290 31404289 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31388080 31391583 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31388303 31397295 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31388802 31394254 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 31388802 31404430 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 31388950 31403965 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 31388950 31417902 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 31390045 31397295 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31393849 31395774 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31394226 31396472 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31394254 31394255 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 31394255 31404430 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 31394255 31404430 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 31394255 31417083 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 31394255 31417903 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 31394255 31426143 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 31395810 31397416 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 31396008 31396241 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 3140393 3140953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 31404210 31412726 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 31416574 170899992 Copy number Biliary cancer Agilent CGH platform 20360734 chr6 31416574 170899992 Copy number Breast cancer Agilent CGH platform 20360734 chr6 31416574 170899992 Copy number Coronary artery disease Agilent CGH platform 20360734 chr6 31416574 170899992 Copy number Crohn's disease Agilent CGH platform 20360734 chr6 31416574 170899992 Copy number Hypertension Agilent CGH platform 20360734 chr6 31416574 170899992 Copy number Rheumatoid arthritis Agilent CGH platform 20360734 chr6 31416574 170899992 Copy number Type 1 diabetes Agilent CGH platform 20360734 chr6 31416574 170899992 Copy number Type 2 diabetes Agilent CGH platform 20360734 chr6 31418565 31506760 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 31421135 31424831 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31421379 31421479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31425326 31573774 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 31429100 31942276 LOH Normal High-resolution SNP genotyping 21211785 chr6 31429100 31943399 LOH Normal High-resolution SNP genotyping 21211785 chr6 31430239 31432935 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31432111 31433476 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31438805 31438929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31439001 31439182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31439027 31439127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31442108 31442654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31445811 31449515 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31445811 31449858 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31445811 31450222 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31445837 31449945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 31445851 31448786 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 31445890 31445996 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31445890 31445996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31448786 31448789 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 31453175 31453775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31454862 31455825 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 31456167 31456595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31457830 31458044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31458683 31559455 Copy number Normal - 20703242 chr6 31459589 31562061 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31461668 31559455 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr6 31461909 31569115 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr6 31462686 31561631 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31462686 31561701 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31462686 31561769 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31463047 31563588 Deletion Nasopharyngeal cancer Partek Segmentation 20548289 chr6 31463197 31561701 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31463297 31559455 Deletion Nasopharyngeal cancer CNV partition 20548289 chr6 31463297 31559455 Deletion Nasopharyngeal cancer Partek HMM 20551993 chr6 31463297 31559455 Deletion Nasopharyngeal cancer PennCNV 20548289 chr6 31463297 31559455 Deletion Nasopharyngeal cancer QuantiSNP 20548289 chr6 31463297 31572718 Copy number Type 2 diabetes ILLumia HumanHap313 BeadChip 21526130 chr6 31464872 31561107 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31464872 31561769 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31465854 31478900 Deletion Prostate cancer aCGH 22341455 chr6 31466149 31561701 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31466149 31563078 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31466655 31563078 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31467170 31563078 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31467630 31559455 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 31468234 31470909 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31473287 31475344 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31475540 31491995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31477908 31478006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31477910 31478006 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31479080 31488428 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31479350 31491069 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31488468 31489701 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31491050 31505856 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31493179 31493255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 31497746 32281493 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr6 315012 322837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 31503107 31505770 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr6 31510389 31540766 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31524806 32225578 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr6 31527501 31534400 Deletion Glioma mate-paired sequence 20126413 chr6 31528288 31558534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 31529460 31532633 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr6 31529477 31532365 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 31538938 31541460 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31538938 31541460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31541565 32114851 LOH Normal High-resolution SNP genotyping 21211785 chr6 31542600 31543848 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31544455 31559659 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 31568086 31605085 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31570426 32183161 LOH Normal High-resolution SNP genotyping 21211785 chr6 31571428 32183161 LOH Normal High-resolution SNP genotyping 21211785 chr6 31572445 31572546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31572447 31572546 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31573833 31586880 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31573842 31586879 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31573842 31586880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31573842 31586880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31575246 31581053 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31575246 31581674 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31581053 32298376 LOH Normal High-resolution SNP genotyping 21211785 chr6 31594910 31596080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31594945 31595041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31595236 31596059 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31603870 31604449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31604718 31605987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31604718 31605987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31604771 31605691 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31605975 31622338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31605975 31622338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31605979 31622606 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31612130 31612205 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31612130 31612205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31612720 31612803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31616857 31616934 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31616857 31616934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31617794 41383683 Duplication Cancer CGH 22183965 chr6 31617794 41383683 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr6 31618907 32291144 LOH Normal High-resolution SNP genotyping 21211785 chr6 31618907 32297639 LOH Normal High-resolution SNP genotyping 21211785 chr6 31620218 31622606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31622626 31634585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31623351 31634584 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31633873 31633911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31634832 31634917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31646366 31648509 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31647810 31650080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31648072 31650077 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31650458 32272795 LOH Normal High-resolution SNP genotyping 21211785 chr6 31650458 32303112 LOH Normal High-resolution SNP genotyping 21211785 chr6 31651329 31654082 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31651329 31654091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31651329 31654091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31656314 31658181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31656314 31661723 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31656841 31659291 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31661935 31664665 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31661935 31664665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31661950 31664664 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31664652 31668741 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31664652 31668741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31668857 31668967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31671682 31676973 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31673491 32272795 LOH Normal High-resolution SNP genotyping 21211785 chr6 31674262 32300500 LOH Normal High-resolution SNP genotyping 21211785 chr6 31675682 32391164 LOH Normal High-resolution SNP genotyping 21211785 chr6 31675682 32594571 LOH Normal High-resolution SNP genotyping 21211785 chr6 31676973 32315265 LOH Normal High-resolution SNP genotyping 21211785 chr6 31679941 32315265 LOH Normal High-resolution SNP genotyping 21211785 chr6 31686839 31687112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31689788 31689888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31690987 31692777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31690987 31692777 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31690987 31692777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31691765 32792651 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 3169516 3172870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 3169516 3172870 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3169516 3172870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31695961 32790815 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 31696429 31713527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31696503 31713516 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31698835 31698966 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31698835 31698966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3170759 3170869 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3170765 3170869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31714784 31728461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31714784 31728461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31714796 31728426 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31728172 31733965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31731650 31733965 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31734054 31736528 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31734054 31736528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31734764 31735703 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3173501 3175000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 31736985 31742039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31736985 31742039 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31736985 31742039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31737840 31741142 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31739044 31739155 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31739044 31739157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31740992 31749302 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31740992 31749302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31741636 31745822 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31746707 31748043 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3175001 3668500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 31752440 31759796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31752440 31759796 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31752440 31759796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31762711 31779172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31762711 31779172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31762715 31779071 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31773302 32277409 LOH Normal High-resolution SNP genotyping 21211785 chr6 31773302 32299653 LOH Normal High-resolution SNP genotyping 21211785 chr6 31782482 31782555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31782660 31793674 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31782660 31793674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31787527 31789821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31788092 31789568 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31794404 31797489 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31794404 31797489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31799129 31802468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31799129 31802468 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31799129 31802468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31802794 31806019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31802795 31806018 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31802797 31806018 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31806337 31815519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31806339 31813074 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31815753 31838432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31815756 31840601 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31815776 31840607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31815776 31840607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31818947 31862081 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 31819240 31819325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31821238 31829098 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 31839949 32447009 LOH Normal High-resolution SNP genotyping 21211785 chr6 31841346 31853087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31841346 31853087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31841495 31853028 Gain and loss Pancreatic cancer SNP array 17952125 chr6 318453 320277 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 31851501 31858500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 31853280 31871489 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31853280 31871691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31853280 31871691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31854561 31854661 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31854573 31854661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31858501 32056000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 31866351 31866435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31873155 31882722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31873155 31882722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31873155 31882731 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31885376 31890814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31885376 31890814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31891299 31893702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31900000 33600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 31900000 33600000 Copy number Incontinentia Pigmenti Agilent SurePrint G3 one Million microarrays 22033527 chr6 31900000 33600000 Copy number Normal - 21701786 chr6 31900000 33600000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr6 31900000 33600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 31900000 33600000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 31900000 33600000 Microdeletion Encephalopathy CGH 20692195 chr6 31903667 31906010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31903667 31906010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31910383 31915520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31910624 31915514 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31911019 31911082 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31911019 31911082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31912832 31912898 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31912832 31912898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31927747 31927847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 31934808 31938688 Copy number Autism exome sequencing 22495311 chr6 31934932 31938662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31934932 31938662 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31934932 31938662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31938948 31954802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31938954 31954753 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31949833 32003194 Copy number Systemic lupus erythematosus TaqI Southern blots 17503323 chr6 31955515 31973433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 31955515 31973433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 31955521 31973433 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31968326 31976707 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 31975372 31977748 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 31975373 31977748 Gain and loss Pancreatic cancer SNP array 17952125 chr6 31975373 31977748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3197570 32111174 Copy number Autoimmune disease TaqI RFLP 19135723 chr6 3197570 32111174 Copy number Immune disease - 21076436 chr6 3197570 32111174 Copy number Normal - 21943165 chr6 3197570 32111174 Copy number Normal quantitative real-time TaqManPCR 21164027 chr6 3197570 32111174 Copy number Systemic lupus erythematosus Reference 17953491 chr6 3197570 32111174 Duplication Systemic lupus erythematosus q PCR 21904924 chr6 3197570 32111174 Loss Breast cancer array CGH 21552322 chr6 31979491 32164928 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31979491 32200821 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31979491 32200821 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31979491 32317091 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 31982571 32003194 Copy number Systemic lupus erythematosus TaqI Southern blots 17503323 chr6 32003244 32021427 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 3200327 3213013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32003473 32021427 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32003473 32021428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32005701 170860000 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr6 32021406 32027840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32021406 32027840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32021761 32027839 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32025237 32025773 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 320277 326149 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 32027842 32034843 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 32027844 32034747 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32027846 32034843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32027846 32034843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32031923 32200821 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32032595 32032696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32033718 32104699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32034560 32045509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32034560 32045511 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32041303 32072540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 3204293 3237217 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3204293 3237217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32045566 32048011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32045567 32048011 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32046931 32057202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32046931 32057202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32047235 32113998 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32047625 32057202 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32048384 32048453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32055475 32104788 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32055886 32060381 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr6 32056001 32126000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 32056216 32114549 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr6 32057780 32078295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32057813 32078295 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32058005 32096088 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32058005 32096088 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32058051 32114339 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr6 32060440 32066806 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32064029 32109240 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 32064029 32109240 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 32065850 32115724 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32066855 32093500 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 32066995 32093119 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr6 32071845 32082041 Gain Normal 244K array 17666407 chr6 32072311 32104913 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32076600 32116948 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32076800 32111173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32078885 32078985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32081391 32116942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32081444 32081776 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32082667 32125369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32082967 32116137 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32084175 32185131 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32084175 32185131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32085024 32131194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32085771 32088297 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32085771 32088297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32086545 32088297 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32087265 32126003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32088772 32126912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32089025 32089542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32089495 32089939 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 32090601 32111173 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32100000 33500000 Both Immune disease references 17576883 chr6 32100000 33500000 Gain and amplification Multiple myeloma Array CGH 16616336 chr6 32103993 32116463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 32114061 32117396 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32114061 32117398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32115062 32127390 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 3212511 3212611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32126001 32170500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 3214694 3401734 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 3214694 3401734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3214697 3401734 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32163326 32163406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32170501 32174000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 32174001 32300000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 32181828 32215509 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32190749 32190994 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32190749 32190994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32191019 32204008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32191025 32203995 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32204465 32206045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32204470 32206045 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32221491 32296461 Copy number Lung cancer paired-end sequencing 18438408 chr6 32224114 32228838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32224117 32227698 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 32224119 32227698 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32229279 32239433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32229279 32239433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32229279 32244040 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32240360 32244040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32243967 32253851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32243970 32253820 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32254109 32256519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32254125 32256541 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32256723 32260001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32256723 32260001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32256724 32260001 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32260336 32260398 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32260488 32265941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32260488 32265941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32260496 32265941 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32266521 32271278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32266522 32268873 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32270599 32299822 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32270599 32299822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32280881 32283022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32281033 32283106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32311424 32547481 Copy number Lung cancer paired-end sequencing 18438408 chr6 32326967 32860544 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 32334902 33300785 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-532K arrays 21546498 chr6 32336880 32336980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32355459 32356648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32368453 32460310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32368453 32460310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32368736 32447634 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32400974 32401933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32421747 32422069 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 32428632 32428738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32450755 32453069 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32452698 32452787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 324696 32206144 Copy number Lung cancer paired-end sequencing 18438408 chr6 32469724 32482878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32470491 32482878 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32475132 32479820 Loss Normal 244K array 17666407 chr6 32479731 32629298 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32479731 32629298 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32479731 32634805 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32479731 32650604 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32479731 32650604 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32479731 32665861 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32479731 32813412 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr6 32479731 32813412 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32485866 32486629 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32503398 32593944 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32503398 32650604 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32503398 32665861 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32503904 32504004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32515625 32520801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32515642 32520801 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32518653 32518851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32519885 32887814 Gain Normal aCGH 21627829 chr6 32519964 32673012 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr6 32519964 32673012 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr6 32519964 32760940 Loss or gain Normal 244K array 17666407 chr6 32521687 32565080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32522059 32681260 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32524913 32525015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32526895 32535222 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32526895 32535222 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32528488 32665861 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32528488 32811418 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32528488 32813412 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32530349 32535222 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32530349 32535222 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 325339 325414 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32535576 32535842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32535576 32535842 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32535576 32535842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32536213 32537707 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32536721 32734484 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32537572 32626735 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32537894 32540555 Loss Normal aCGH 21627829 chr6 32539530 32556076 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 32539530 32681749 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 32539530 32682359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 32539530 32743274 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 32539676 32540555 Loss Normal aCGH 21627829 chr6 32540615 32563556 Gain Normal aCGH 21627829 chr6 32541815 32665861 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32541815 32811418 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32547001 33093794 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr6 32548521 32557528 Loss Primary mediastinal b-cell lymphoma Array CGH 17728785 chr6 32549528 32554627 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32550062 32558702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32550498 32550598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32550876 32554104 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32550876 32594991 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32551263 32563556 Gain Normal aCGH 21627829 chr6 32551263 32770900 Gain Normal aCGH 21627829 chr6 32551382 32554927 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32551382 32578639 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32555078 32605892 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32555440 32556834 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32556076 32564720 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 32556577 32682359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 32556721 32629504 Copy number Lung cancer paired-end sequencing 18438408 chr6 32557029 32701484 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 32557501 32617249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32557501 32624894 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32557501 32635250 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32557501 32734596 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 32557921 32595246 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32557921 32595860 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32557921 32604914 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32558477 32650872 Copy number Incontinentia Pigmenti Agilent SurePrint G22 one Million microarrays 22033527 chr6 32558477 32673183 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 chr6 32559501 32569500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 32560895 32638289 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 chr6 32560896 32681736 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 32561478 32659467 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32561729 32650728 Deletion Normal TaqMan assays 20972442 chr6 32561832 32563460 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 32562489 32605172 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32562489 32617249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32562489 32635250 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32562489 32638264 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32562501 32682359 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 32563058 32567017 Loss Normal aCGH 21627829 chr6 32563431 32568343 Loss Normal aCGH 21627829 chr6 32564649 32617249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32564649 32635250 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32564720 32681749 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 32564754 32605230 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 32565228 32567470 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 32565429 32567573 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 32565698 32697631 Copy number Lung cancer paired-end sequencing 18438408 chr6 32566260 32602588 Gain Normal aCGH 21627829 chr6 32567017 32568263 Gain Normal aCGH 21627829 chr6 32569501 32576500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 3257310 5048614 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 32576501 32643500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 32576794 32582490 Loss Normal aCGH 21627829 chr6 32578068 32578168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32578639 32659707 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32582950 170899992 Copy number Biliary cancer Agilent CGH platform 20360734 chr6 32582950 170899992 Copy number Breast cancer Agilent CGH platform 20360734 chr6 32582950 170899992 Copy number Coronary artery disease Agilent CGH platform 20360734 chr6 32582950 170899992 Copy number Crohn's disease Agilent CGH platform 20360734 chr6 32582950 170899992 Copy number Hypertension Agilent CGH platform 20360734 chr6 32582950 170899992 Copy number Rheumatoid arthritis Agilent CGH platform 20360734 chr6 32582950 170899992 Copy number Type 1 diabetes Agilent CGH platform 20360734 chr6 32582950 170899992 Copy number Type 2 diabetes Agilent CGH platform 20360734 chr6 32582950 32589621 Gain Normal aCGH 21627829 chr6 32584331 32605357 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 32589672 32589830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32592293 32592393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32593176 32606022 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32593178 32606022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32593178 32606022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32594054 32633740 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr6 32594571 32599070 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 32594571 32599070 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 32594889 32596623 Loss Normal aCGH 21627829 chr6 32595402 32672983 Copy number Rett syndrome References 21593744 chr6 32595402 32672983 Duplication Rett syndrome References 21593744 chr6 32595860 32630741 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32597686 32656611 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32597757 32620202 Loss Normal aCGH 21627829 chr6 32597760 32667786 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32599070 32758761 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32599696 32613170 Loss Normal aCGH 21627829 chr6 32605230 32628535 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 32605329 32633715 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr6 32605333 32606452 Loss Normal aCGH 21627829 chr6 32606286 32668874 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32606286 32668874 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32607277 32608778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32609209 170899992 Copy number Biliary cancer Agilent CGH platform 20360734 chr6 32609209 170899992 Copy number Breast cancer Agilent CGH platform 20360734 chr6 32609209 170899992 Copy number Coronary artery disease Agilent CGH platform 20360734 chr6 32609209 170899992 Copy number Crohn's disease Agilent CGH platform 20360734 chr6 32609209 170899992 Copy number Hypertension Agilent CGH platform 20360734 chr6 32609209 170899992 Copy number Rheumatoid arthritis Agilent CGH platform 20360734 chr6 32609209 170899992 Copy number Type 1 diabetes Agilent CGH platform 20360734 chr6 32609209 170899992 Copy number Type 2 diabetes Agilent CGH platform 20360734 chr6 32609209 32610248 Loss Normal aCGH 21627829 chr6 32609209 32613170 Loss Normal aCGH 21627829 chr6 32610887 32634805 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32610887 32650604 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32610887 32650604 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32610887 32811418 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32610887 32813412 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32611870 32613170 Loss Normal aCGH 21627829 chr6 32613247 32613872 Gain Normal aCGH 21627829 chr6 32613247 32615744 Gain Normal aCGH 21627829 chr6 32613308 32702335 Gain Normal aCGH 21627829 chr6 326149 327559 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 32615622 32620992 Loss Normal aCGH 21627829 chr6 32615622 32630694 Loss Normal aCGH 21627829 chr6 32616454 32648589 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 32616454 32681749 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 32625642 32625845 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32628535 32654675 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 32630089 32659922 Gain Normal aCGH 21627829 chr6 32630290 32657155 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 32630574 32631188 Gain Normal aCGH 21627829 chr6 32630651 32667948 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32630741 32649072 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 32634806 32650604 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr6 32634806 32650604 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32634806 32650604 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32635468 32643099 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 32645762 32656983 Gain Normal aCGH 21627829 chr6 32647318 57304224 Copy number Lung cancer paired-end sequencing 18438408 chr6 32647373 32667948 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32648132 32654185 Gain Normal aCGH 21627829 chr6 32650491 32654827 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 32652043 32652178 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32652240 32668755 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32654513 32665591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32654513 32665591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32654527 32665540 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32656611 32657949 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32657006 32658483 Loss Normal aCGH 21627829 chr6 32657006 32660671 Loss Normal aCGH 21627829 chr6 32657200 32667948 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32658474 32659922 Gain Normal aCGH 21627829 chr6 32658474 32667787 Gain Normal aCGH 21627829 chr6 32658483 32702370 Gain Normal aCGH 21627829 chr6 32661854 32663355 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 32663761 32668161 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 32663761 32668161 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 32663862 32811418 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32663862 32813412 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32665427 32665427 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr6 32667544 32668755 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 32667786 32668755 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32667786 32668755 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 32667857 32668772 Loss Normal aCGH 21627829 chr6 32668840 32678390 Gain Normal aCGH 21627829 chr6 32669557 32677667 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32669934 32672586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32679309 32679595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32687183 32687300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32688439 32688583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32688531 32688592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32688550 32689616 Loss Normal aCGH 21627829 chr6 32688550 32690992 Loss Normal aCGH 21627829 chr6 32688582 32688749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32689682 32702370 Gain Normal aCGH 21627829 chr6 32695497 32702335 Gain Normal aCGH 21627829 chr6 32695750 32698120 Gain Normal aCGH 21627829 chr6 32695835 32696089 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 32699662 32718868 Loss Normal aCGH 21627829 chr6 32699911 32704507 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32700119 32703088 Gain Normal aCGH 21627829 chr6 32700893 32712162 Loss Normal aCGH 21627829 chr6 32700999 32710085 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 32700999 32710085 Deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 chr6 32700999 32710085 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 32700999 32734596 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 32701681 32701994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32702309 32711078 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 3270576 3535575 Duplication small cell lung cancer array-CGH 20016488 chr6 32708569 32715885 Loss Normal aCGH 21627829 chr6 32711716 32763337 Gain Normal 244K array 17666407 chr6 32712226 57310086 Copy number Lung cancer paired-end sequencing 18438408 chr6 32712257 32713544 Gain Normal aCGH 21627829 chr6 32713112 32719407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32713112 32719407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32713161 32719015 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32713544 32714695 Loss Normal aCGH 21627829 chr6 32718444 32723469 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 32718506 32733920 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32718506 32742656 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32723440 32767842 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 32726553 32742416 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32727032 32728106 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 3272919 3531339 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 32731256 32761620 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 32734412 32735194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32734412 32735194 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32734412 32735194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32735216 32744723 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32735216 32762399 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32735216 32762399 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32735216 32765093 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32735222 32754296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32735497 32762399 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32735497 32762399 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32735497 32765093 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32736592 32744723 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32736592 32744723 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32736592 32747727 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32736592 32759607 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32740496 32742285 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32743875 32747727 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32746293 32748314 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 32751956 32752297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 327559 330056 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 32765697 32787066 Loss Normal 244K array 17666407 chr6 32773398 33965503 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 32781138 32782564 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32781879 32782710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32784552 32785008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32787014 32787101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32790195 32791485 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32790246 32790866 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32790246 32790866 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32790329 32791485 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32790329 32791485 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32791104 32791204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32792651 32913366 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32796908 38137382 Deletion Glioblastoma multiforme 244K oligo array 21138945 chr6 32796908 38137382 Gain Glioblastoma multiforme 244K oligo array 21138945 chr6 32806513 32807450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32808662 32820362 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 32816473 32821064 Loss Normal 244K array 17666407 chr6 32817141 32823199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32817141 32823199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32817199 32822149 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32831853 32839308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32831853 32839308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32831854 32839287 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32843510 32845198 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32843510 32845198 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32857209 32857519 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32864039 32866221 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32886733 32887798 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 32888519 32892764 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32888530 32892803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32888530 32892803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32897588 32914499 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32897588 32914525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 32897588 32914525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32903482 32903658 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 32903573 32903648 Loss Normal 244K array 17666407 chr6 32903573 32904136 Loss Normal 244K array 17666407 chr6 32913366 32919434 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32916472 32920690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32916477 32920458 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32919891 32955342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32920965 32929733 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32920965 32929733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32929771 33095031 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 32929771 33095031 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 32929934 32935336 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32944465 32944563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 32954971 32955588 Gain and loss Pancreatic cancer SNP array 17952125 chr6 32954971 32955588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32972171 32972245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 32973767 33072074 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 32987761 32987911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 330056 332659 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 33009329 33590032 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 33010384 33016795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33010393 33016795 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33011054 33011262 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 33012671 33012765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33014616 33014679 Gain Normal 244K array 17666407 chr6 33024368 33028863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33024375 33028846 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33030161 33030288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33044001 33049000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 33044415 33057059 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33044415 33057260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33044415 33057260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33047101 33047738 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 33073491 33753633 LOH Normal High-resolution SNP genotyping 21211785 chr6 33073491 33756098 LOH Normal High-resolution SNP genotyping 21211785 chr6 33079937 33085367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33079937 33085367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33081350 33085315 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33090070 33091377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33096947 33098823 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 33114862 33144419 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 33125262 33736196 LOH Normal High-resolution SNP genotyping 21211785 chr6 33128787 33131629 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 33128852 33131786 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 33131199 33132282 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 33131199 33132282 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 33131629 34103561 LOH Normal High-resolution SNP genotyping 21211785 chr6 33131786 33648942 LOH Normal High-resolution SNP genotyping 21211785 chr6 33132112 33671544 LOH Normal High-resolution SNP genotyping 21211785 chr6 33136840 33136890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33139696 33139789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33140324 33156465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33140771 33149356 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr6 33140772 33149356 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33144976 33146634 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 33146634 33753633 LOH Normal High-resolution SNP genotyping 21211785 chr6 33146634 33756098 LOH Normal High-resolution SNP genotyping 21211785 chr6 33146634 33905130 LOH Normal High-resolution SNP genotyping 21211785 chr6 33151727 33167867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33151738 33175503 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33155206 33155615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33156651 33193256 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 33157536 33167169 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 33159610 33160816 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 33165527 33494594 Gain Anaplastic thyroid cancer 33K microarrays 18753363 chr6 33167508 33173050 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33167508 33173050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33175401 33179743 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 33175658 33175727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33178256 33180184 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 33179549 33183085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33180184 33753633 LOH Normal High-resolution SNP genotyping 21211785 chr6 33188206 33194904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33188206 33194904 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33188206 33194904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33191586 33191647 Gain Normal 244K array 17666407 chr6 33193163 33203995 Gain Normal 244K array 17666407 chr6 33196350 39535782 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 33200562 33741116 LOH Normal High-resolution SNP genotyping 21211785 chr6 33201386 33201716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33206971 33219080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33216135 33216241 Loss Normal 244K array 17666407 chr6 33233899 33234818 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33234001 33292500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 33236952 33237009 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33238436 33268254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33238447 33268223 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33241639 33828977 LOH Normal High-resolution SNP genotyping 21211785 chr6 33241639 33897058 LOH Normal High-resolution SNP genotyping 21211785 chr6 33247001 34187994 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr6 33252953 33252953 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr6 33269343 33276410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33269343 33276410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33269344 33276410 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33275356 33275449 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33275356 33275451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33276581 33280191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33276581 33280191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33276643 33280191 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33280397 33282585 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33280397 33282585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33283590 33283699 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33283590 33283699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33284255 33288468 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33284255 33288468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33284269 33288468 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33285568 33285640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33289879 33289932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33291460 33292083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33292501 33646500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 332944 339525 Copy number Autism exome sequencing 22495311 chr6 33313554 33315445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33326027 33347674 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33326028 33347717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33339721 33357456 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 33341908 33342008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33347830 33352257 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33347830 33352257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33352895 33354580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33352895 33354580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33352951 33354579 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33354864 33364973 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33354864 33365265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33354864 33365265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3336260 32247733 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 33365057 33374156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33365356 33366689 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33367416 33374716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33367416 33374732 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33372035 33372135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33375449 33390114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33375449 33390114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33375452 33389967 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33387846 33421465 Copy number Autism ref 20964600 chr6 33390174 33393472 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33390174 33393488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33394313 33398765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33394381 33398702 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33395285 33395385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33399849 33512042 Loss Autism qPCR 20531469 chr6 33400837 33400937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33400851 33403343 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33410160 33410215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33414738 33415250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33414738 33415250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33414741 33415250 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33441115 33442072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33441303 33441998 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33465129 33465230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33467583 33485622 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33467598 33485657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33467598 33485657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33475814 33476311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33475814 33476311 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33475814 33476311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33479554 33479554 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr6 33486772 33492173 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33486772 33492194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33486772 33492194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33492296 33494043 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 33492297 33493672 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33492297 33494043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33492297 33494043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33495919 33533296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33495919 33533296 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33495919 33533296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33500000 36600000 Gain Basal cell lymphoma Array CGH 19029149 chr6 33500000 36600000 Gain Diffuse large b-cell lymphoma Array CGH 19029149 chr6 33500000 36600000 Gain Esophageal adenocarcinoma MLPA 18820669 chr6 33500000 40500000 Amplification Osteosarcoma References 16790693 chr6 3350219 3350362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33530334 33533296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33530334 33533296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33553627 33553716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33564072 33590821 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 33583532 33583723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33600000 36800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 33600000 36800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 33600000 36800000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr6 33601120 33601930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 3361128 32256548 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 33616449 33616752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33616449 33616755 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33616449 33616755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33627288 33627395 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33645921 33646021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33646501 33732000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 33648300 33656048 Gain or loss Breast cancer - 20668451 chr6 33648300 33656048 Gain or loss Cancer - 20668451 chr6 33648300 33656048 Gain or loss Lung cancer - 20668451 chr6 33648300 33656048 Gain or loss Ovarian cancer - 20668451 chr6 33648300 33656048 Gain or loss Pancreas cancer - 20668451 chr6 33648300 33656048 Gain or loss Prostate cancer - 20668451 chr6 33648302 33656048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33648302 33656048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33648308 33655975 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33659493 33664781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33661861 33669093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33661861 33669093 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33661861 33669093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33668417 33668497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33672995 33706348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 336738 356442 Amplification or deletion Cancer Array CGH 17440070 chr6 336751 356443 Copy number Crohn's disease real-time PCR, paralogue ratio test (PRT) 20877625 chr6 336751 356443 Copy number Inflammatory disorder real-time PCR, paralogue ratio test (PRT) 20877625 chr6 336751 356443 Deletion Parkinson disease Quantitative PCR 20858604 chr6 336751 356443 Gain or loss Breast cancer - 20668451 chr6 336751 356443 Gain or loss Cancer - 20668451 chr6 336751 356443 Gain or loss Lung cancer - 20668451 chr6 336751 356443 Gain or loss Ovarian cancer - 20668451 chr6 336751 356443 Gain or loss Pancreas cancer - 20668451 chr6 336751 356443 Gain or loss Prostate cancer - 20668451 chr6 336751 356443 Loss Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr6 336751 356443 Low gain Neuroblastic tumor meta-analysis 20877625 chr6 336751 356443 Normal Pancreatic cancer FISH 20877625 chr6 336760 356193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 336760 356193 Gain and loss Pancreatic cancer SNP array 17952125 chr6 336760 356193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33680536 33682187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33691176 33693822 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr6 33691176 33693822 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33691917 33693857 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 33697138 33772326 Gain or loss Breast cancer - 20668451 chr6 33697138 33772326 Gain or loss Cancer - 20668451 chr6 33697138 33772326 Gain or loss Lung cancer - 20668451 chr6 33697138 33772326 Gain or loss Ovarian cancer - 20668451 chr6 33697138 33772326 Gain or loss Pancreas cancer - 20668451 chr6 33697138 33772326 Gain or loss Prostate cancer - 20668451 chr6 33697139 33772324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33697139 33772324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33697322 33772317 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33722842 43897461 Gain Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 chr6 33732001 33771500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 33741116 33752121 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 33760418 33760518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33771501 34034000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 33773324 33787482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33773324 33787482 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33773324 33787482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3377584 32299822 Copy number Lung cancer - 20668451 chr6 3377584 32299822 Gain or loss Breast cancer - 20668451 chr6 3377584 32299822 Gain or loss Cancer - 20668451 chr6 3377584 32299822 Gain or loss Lung cancer - 20668451 chr6 3377584 32299822 Gain or loss Ovarian cancer - 20668451 chr6 3377584 32299822 Gain or loss Pancreas cancer - 20668451 chr6 3377584 32299822 Gain or loss Prostate cancer - 20668451 chr6 33797422 33822740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33797422 33822740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33797425 33822660 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33833147 33834702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 33846969 33864890 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33846977 33864890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33846977 33864890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33857685 33857799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33857894 33857938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 33870427 33879771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 33870427 33879771 Gain and loss Pancreatic cancer SNP array 17952125 chr6 33870427 33879771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 33993058 34006026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 34027425 34063358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 34034001 34036500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34036501 34094500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34045801 34051014 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 34045808 34050667 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 34046721 34050683 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 34046721 34050683 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 340634 36381295 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 34075727 34075806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34094501 34231500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34097605 34231377 Copy number Lung cancer - 20668451 chr6 34097605 34231377 Gain or loss Breast cancer - 20668451 chr6 34097605 34231377 Gain or loss Cancer - 20668451 chr6 34097605 34231377 Gain or loss Lung cancer - 20668451 chr6 34097605 34231377 Gain or loss Ovarian cancer - 20668451 chr6 34097605 34231377 Gain or loss Pancreas cancer - 20668451 chr6 34097605 34231377 Gain or loss Prostate cancer - 20668451 chr6 34097607 34209421 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34097607 34231145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34097607 34231145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34106106 34106195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 34108456 34108526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 34204576 34214007 Gain Medulloblastoma Agilent Whole Human Genome 44K CGH microarray assay 22249617 chr6 34217123 34217207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 34231501 34320500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34247241 35510773 LOH Normal High-resolution SNP genotyping 21211785 chr6 34255412 34259514 Amplification or deletion Cancer Array CGH 17440070 chr6 34270004 35111169 LOH Normal High-resolution SNP genotyping 21211785 chr6 34270004 35511599 LOH Normal High-resolution SNP genotyping 21211785 chr6 34295127 34295828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34295127 34295828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34312628 34321986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34312628 34321986 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34312628 34321986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34320501 34326000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34322136 34324882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34322136 34324882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34322151 34324795 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34326001 34587500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34339066 34339428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34339066 34339428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34363982 34468419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34363982 34468419 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34363982 34468419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34373872 34379925 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 3439627 3439697 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 34425516 34426525 Loss Normal 244K array 17666407 chr6 34453725 34453792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 34490470 34822655 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 34493208 34501854 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 34493209 34501814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34493209 34501814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34493211 34501830 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34518621 34518704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 34541883 34610976 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34541883 34610984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34541883 34610984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34546545 34546684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34554096 35616689 LOH Normal High-resolution SNP genotyping 21211785 chr6 34566008 35616689 LOH Normal High-resolution SNP genotyping 21211785 chr6 34587398 35845687 LOH Normal High-resolution SNP genotyping 21211785 chr6 34587501 34651500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34588866 35111169 LOH Normal High-resolution SNP genotyping 21211785 chr6 34588866 35580174 LOH Normal High-resolution SNP genotyping 21211785 chr6 34588866 35709152 LOH Normal High-resolution SNP genotyping 21211785 chr6 345985 598718 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 34613558 34632069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34613558 34632069 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34613558 34632069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34615631 34635460 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 34624567 34634303 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 34651501 34665000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34652013 34652411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34663050 34772603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34663050 34772603 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34663050 34772603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34692293 34693013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34758553 34758656 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34758553 34758656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34761061 34761093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 34761101 34761397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34761128 34761397 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34762357 34762861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34766547 34811541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 34768535 34768636 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34768535 34768636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34791368 34791695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34801643 36961802 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-539K arrays 21546498 chr6 34802784 34808099 Loss Normal 244K array 17666407 chr6 34819062 34819138 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34819062 34819138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34819931 34820428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34833275 34849545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34833275 34849545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34833288 34849549 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34861751 34863000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 34867770 34958893 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34867772 34953265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34870583 34870881 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 34897200 34897295 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34897200 34897297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34941488 35572472 LOH Normal High-resolution SNP genotyping 21211785 chr6 34944770 35515534 LOH Normal High-resolution SNP genotyping 21211785 chr6 34949588 34949685 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34949596 34949681 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34953533 34963797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34953533 34963797 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34953533 34963797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34965015 35164364 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr6 34965016 35193232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 34965016 35193232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 34965019 35167166 Gain and loss Pancreatic cancer SNP array 17952125 chr6 34976117 37184829 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 34998875 35354297 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr6 35012153 35046052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35033291 35078079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35095687 35095787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 35096533 35096593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 35099275 35099570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35128501 35154000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 35143115 35184210 Duplication Oligozoospermia Array-CGH 20877625 chr6 35149213 35149313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 35154001 35164500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 35164501 35543500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 35164650 35164741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 35180603 35217165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35180603 35217165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35193832 35217104 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35210701 35214800 Deletion Glioma mate-paired sequence 20126413 chr6 352263 9584745 Loss Bladder cancer array-CGH 21909424 chr6 352463 170809934 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr6 352463 26481463 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr6 35276094 35398980 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 352879 598718 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 35290167 35324460 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr6 35290168 35326587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35290168 35326587 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35290168 35326587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35333710 35333785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 35335427 35371740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35335427 35371740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35335488 35371738 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35338171 35338201 Gain Normal 244K array 17666407 chr6 35354932 35355574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3536211 22367619 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 35373573 35397520 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35373573 35397524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35373573 35397524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35418313 35503933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35418313 35503933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35418320 35503931 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35466986 35481723 Amplification or deletion Cancer Array CGH 17440070 chr6 35473098 35473198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 35500000 39800000 Amplification Lung cancer Array-based CGH 19153074 chr6 35518799 35525621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35521966 35525620 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35528115 35542859 Copy number Lung cancer - 20668451 chr6 35528115 35542859 Gain or loss Breast cancer - 20668451 chr6 35528115 35542859 Gain or loss Cancer - 20668451 chr6 35528115 35542859 Gain or loss Lung cancer - 20668451 chr6 35528115 35542859 Gain or loss Ovarian cancer - 20668451 chr6 35528115 35542859 Gain or loss Pancreas cancer - 20668451 chr6 35528115 35542859 Gain or loss Prostate cancer - 20668451 chr6 35528116 35542859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35528116 35542859 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35528116 35542859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35543501 35576000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 35544156 35546536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35544156 35546536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35544175 35546536 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35549352 35572839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35549352 35572839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35549354 35572693 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35571719 35914482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 35573631 35588631 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35573632 35588631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35573632 35588631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35576001 35602500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 35581776 35818658 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 35605843 35804010 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 35631628 35632019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35649345 35804336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35649345 35804336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35649346 35804338 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35675250 35675306 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35675250 35675306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35683383 35683689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 356950 5097246 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 35709702 35750200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35727573 35727700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35727585 35727694 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35730035 35766322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35732601 35739700 Deletion Glioma mate-paired sequence 20126413 chr6 35734411 35737722 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 35734501 35737500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 35744724 35744824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 35745061 35914482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 35757809 35757889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 35776754 35776893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35801803 35801903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 35803001 35805000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 3580625 3580900 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 35812833 35824668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35812833 35824668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35812837 35824657 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35841663 35841985 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35841663 35842682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35842880 35848128 Loss Normal 244K array 17666407 chr6 35852370 35855307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35852370 35855307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35852374 35855285 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35855681 35879293 Gain Normal 244K array 17666407 chr6 35856807 35869290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35856807 35869290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35856878 35874403 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 35856878 35874403 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 35857915 35868616 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35858089 35863040 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35858842 35869316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35862840 35871576 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr6 35864308 35865405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35868282 35891281 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35869413 35872801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35870594 35896057 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35870738 35873080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35870738 35873080 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35870738 35873080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35871113 35875410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 35873734 36926508 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-517K arrays 21546498 chr6 35881048 35899830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35881048 35899830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35881049 35899830 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3589404 3592497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 35908789 35996934 Gain and loss Pancreatic cancer SNP array 17952125 chr6 35908789 35996942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 35908789 35996942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 35954961 35987476 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 35971301 37546698 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-509K arrays 21546498 chr6 36019273 36100355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36019273 36100355 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36019273 36100355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36035967 36036067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36103550 36186513 Gain or loss Breast cancer - 20668451 chr6 36103550 36186513 Gain or loss Cancer - 20668451 chr6 36103550 36186513 Gain or loss Lung cancer - 20668451 chr6 36103550 36186513 Gain or loss Ovarian cancer - 20668451 chr6 36103550 36186513 Gain or loss Pancreas cancer - 20668451 chr6 36103550 36186513 Gain or loss Prostate cancer - 20668451 chr6 36103551 36186513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36103551 36186513 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36103551 36186513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36129769 36215820 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36167933 36168070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36172536 36172628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36178098 36178171 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 36206239 36215820 Gain or loss Breast cancer - 20668451 chr6 36206239 36215820 Gain or loss Cancer - 20668451 chr6 36206239 36215820 Gain or loss Lung cancer - 20668451 chr6 36206239 36215820 Gain or loss Ovarian cancer - 20668451 chr6 36206239 36215820 Gain or loss Pancreas cancer - 20668451 chr6 36206239 36215820 Gain or loss Prostate cancer - 20668451 chr6 36206240 36215820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36206240 36215820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36215104 36215185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36216253 36216343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36217383 36217478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36237722 36237822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36272528 36308541 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36272528 36308544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36272528 36308544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36318923 36384350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36318923 36384350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36367155 36384350 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36373457 36377613 Loss or gain Normal 244K array 17666407 chr6 36391517 36412640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36391517 36412640 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36391517 36412640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36429976 36476392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36429976 36476392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36430397 36464144 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36433764 36433864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36440905 36633025 Gain Autism qPCR, Agilent 1M 20531469 chr6 36466306 36476289 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36466306 36476289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36466309 36518644 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36478069 50112006 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr6 36485468 36485553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36518522 36566291 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36518522 36566898 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36518522 36566898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36526670 36526956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36526677 36526952 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36526677 36526952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36528803 36528868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 3655632 3655672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36569564 36569641 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36569564 36569729 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36569646 36623225 Gain or loss Breast cancer - 20668451 chr6 36569646 36623225 Gain or loss Cancer - 20668451 chr6 36569646 36623225 Gain or loss Lung cancer - 20668451 chr6 36569646 36623225 Gain or loss Ovarian cancer - 20668451 chr6 36569646 36623225 Gain or loss Pancreas cancer - 20668451 chr6 36569646 36623225 Gain or loss Prostate cancer - 20668451 chr6 36569647 36623234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36569647 36623234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36569654 36623225 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36579442 36624097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 36597946 36598256 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36597946 36598256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36600000 40500000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr6 36609020 36618064 Amplification or deletion Cancer Array CGH 17440070 chr6 3661416 3663274 Loss or gain Normal 244K array 17666407 chr6 36666942 36711845 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 36666942 36723728 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 36670138 36679187 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36670143 36679187 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr6 36670144 36679187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36670144 36679187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3667853 3696935 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3667884 3696972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 3667884 3696972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3668501 3672000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 3669393 3672879 Gain Normal 244K array 17666407 chr6 36715237 36715427 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36715322 36715427 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36733355 36733437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36749524 36751026 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36749524 36751026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36752001 36922000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 36754465 36763086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36754465 36763086 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36754465 36763086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36773606 36808938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36773606 36808938 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36773606 36808938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3679682 3706544 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 36798350 36804556 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36798350 36804556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36800000 170899992 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chr6 36800000 40600000 Amplification Melanoma MLPA assay 21693616 chr6 36800000 40600000 Amplification Melanoma Multiplex Ligation-Dependent Probe Amplification 21693616 chr6 36800000 40600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 36800000 40600000 Deletion Mental retardation \N 21062444 chr6 36800000 40600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 36800000 40600000 Gain Barrett's adenocarcinoma FISH 18663352 chr6 36800000 40600000 Gain Breast cancer - 16397240 chr6 36800000 40600000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr6 36800000 51100000 Gain Osteosarcoma aCGH 21197465 chr6 36808537 36816921 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 36808537 36816921 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 36812760 36813461 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36812805 36813741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36812805 36813741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36816533 36915756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36816533 36915756 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36816533 36915756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36829988 36833155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36862523 36906802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 36896576 36896615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36907307 36934188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 36913747 36913885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 36930586 36950747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36930586 36950747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36930587 36950755 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 36930587 36950755 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36931829 170756175 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr6 36947624 37004718 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 36947624 37004718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 36947624 37004718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 36961727 37002294 Gain and loss Pancreatic cancer SNP array 17952125 chr6 36987469 36987564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 3699332 3700067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37030001 37138000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 37030187 37040585 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37030187 37040589 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 37030187 37040589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37030187 37040589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37041385 37743224 LOH Normal High-resolution SNP genotyping 21211785 chr6 37043895 37061927 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37043896 37061927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37043896 37061927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37043896 37061948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 37049603 37080087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 37058540 37167595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37081400 37104386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37081400 37489422 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 37081456 37104300 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37100000 49800000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr6 37120585 37121155 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 37120683 37120943 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37135065 37135165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37138887 37138987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37166988 37167560 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37180659 37180754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37184829 37475449 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 37184840 37190057 Amplification or deletion Cancer Array CGH 17440070 chr6 37234358 37256615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 37245943 37251180 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 37245964 37251180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37245964 37251180 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37245964 37251180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37246001 37247500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 3725427 3725511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37270 369514 Copy number Autism exome sequencing 22495311 chr6 37287934 37333909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37287934 37333909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37287935 37333390 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37299400 37299497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37326960 37327059 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37326960 37327059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37333521 37408723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37333521 37408723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37333526 37408723 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37365765 39277392 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 37402932 37403254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 37429726 37470491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37429726 37470491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37429769 37470491 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37436939 37437234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37436939 37437237 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37436939 37437237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37448876 37451336 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 3745564 3745654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37475449 38666991 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 37475483 37475518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37508991 37557260 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37508991 37558282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37508991 37558282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37529775 43660075 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 37543792 37543942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37550501 37782000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 37558677 37575678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37558677 37575678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37558686 37575676 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37569946 37570046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37582420 37586081 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 37583102 37617144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37583102 37617144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37595546 37609305 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr6 37603392 37603454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37609844 38489334 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 37616351 37616436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37669086 37672682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 37676698 38851825 LOH Normal High-resolution SNP genotyping 21211785 chr6 37708261 37773744 Deletion Intellectual disability 100k SNP Array 21811512 chr6 37708262 37773744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37708262 37773744 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37708262 37773744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37719683 37719783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37731544 37897299 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 37782001 37896500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 37784640 38577015 LOH Normal High-resolution SNP genotyping 21211785 chr6 37787687 37787787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37797866 38795457 LOH Normal High-resolution SNP genotyping 21211785 chr6 37816557 38769716 LOH Normal High-resolution SNP genotyping 21211785 chr6 37821123 38594519 LOH Normal High-resolution SNP genotyping 21211785 chr6 37829484 37829753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 37832555 38854856 LOH Normal High-resolution SNP genotyping 21211785 chr6 37846686 38544265 LOH Normal High-resolution SNP genotyping 21211785 chr6 37868575 38795457 LOH Normal High-resolution SNP genotyping 21211785 chr6 37895285 38230375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 37895285 38230375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 37895285 38230375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37895611 38230375 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37908669 37908939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37908713 37908943 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37908713 37908943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37909827 37909927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 3794619 3796550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 3794619 3796550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3794621 3796546 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3794873 3794967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37950971 37951071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 37959203 37960554 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 37959222 37960568 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 37991336 37991498 Gain and loss Pancreatic cancer SNP array 17952125 chr6 37991350 37991496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 37991389 37991498 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38078586 38079067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38087814 38087914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38105588 38105684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 3813334 32742444 Amplification Intellectual disability 100k SNP Array 21811512 chr6 38140658 38140659 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr6 38142872 38142972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38179240 38179293 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 38200000 104800000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr6 38200000 87500000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr6 38226501 38237500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 38237501 38252000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 38250713 38671821 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 38250713 38673848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 38250713 38673848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38250739 38673848 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38255052 38256988 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 38255052 38256988 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38283028 38283093 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38283028 38283098 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38283028 38283099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38283269 38979526 LOH Normal High-resolution SNP genotyping 21211785 chr6 38284868 38795457 LOH Normal High-resolution SNP genotyping 21211785 chr6 38284868 38805368 LOH Normal High-resolution SNP genotyping 21211785 chr6 38301353 38309241 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 38305369 38305469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38327713 38327812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38384678 38384763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38394501 38396000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 38426294 38426394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38478004 38478206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 38482928 38486122 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 3848396 58835794 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-538K arrays 21546498 chr6 38504967 38505067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38554454 38554554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 3859158 3859525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38602001 38605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 38604850 38612333 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 38641704 38641804 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38641704 38641809 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38641704 38641809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38663077 38664283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3867115 3867329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38684234 38684329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38690853 39029218 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 38696947 38819063 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 38696947 38819063 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 386979 387057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38698468 38698568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38715001 38716000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 387174 431632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 3874889 3874984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38751679 38778930 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 38751682 38778930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 38751682 38778930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 38751682 38778930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38751698 38778895 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38767956 39794069 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 38791095 39106279 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38791545 38791773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 38792313 39106279 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 38792313 39106545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 38792313 39106545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38798529 39106146 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr6 38798529 39106545 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 38804169 38809034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 38819840 38820137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38819840 38820138 Gain and loss Pancreatic cancer SNP array 17952125 chr6 38819840 38820138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38827866 38828098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 38838659 38840448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3886538 3887031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38898061 38898174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 38939275 38972283 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 38943372 38943472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38955673 38955764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38986121 38986221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 38992691 38993146 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 38994268 38994360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39003785 39003907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39021806 39021864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39030166 39030480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 39039012 39039434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 39046345 39046445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39050521 39082799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 39088501 39543900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 39112501 39163500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 39115357 39115739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39115458 39115691 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39124534 39163498 Copy number Lung cancer - 20668451 chr6 39124534 39163498 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 39124534 39163498 Gain or loss Breast cancer - 20668451 chr6 39124534 39163498 Gain or loss Cancer - 20668451 chr6 39124534 39163498 Gain or loss Lung cancer - 20668451 chr6 39124534 39163498 Gain or loss Ovarian cancer - 20668451 chr6 39124534 39163498 Gain or loss Pancreas cancer - 20668451 chr6 39124534 39163498 Gain or loss Prostate cancer - 20668451 chr6 39124595 39163497 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 39124595 39163497 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 39124595 39163497 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39124595 39163497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39165128 39165213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39176890 39180012 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 39177246 39180659 Copy number Cancer CGH 20581869 chr6 39179818 39190843 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39179818 39190927 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 39179818 39190927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 39179818 39190927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39186075 39188706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3923295 3924332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3923310 3924332 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39241501 39447500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 39264726 39305229 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 39264726 39305229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 39264726 39305229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39264727 39305229 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3927904 3929363 Gain and loss Pancreatic cancer SNP array 17952125 chr6 3927908 3929363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3927997 3928295 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 39288344 39288427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39360246 39360346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39374756 39390161 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39374756 39390214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 39374756 39390214 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 39374756 39390214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39390460 39398294 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 39390460 39398294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 39390460 39398294 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39390460 39398294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39401106 39401196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39409170 39409270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39410854 39801159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 39410854 39801159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 39410854 39801159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39411905 39801064 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39429501 39429926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39469832 39871484 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 39496911 39496990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39535782 39907010 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 39579569 39579669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 3958988 3959585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39616366 39616495 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39616366 39616495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39628138 39661864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 39629565 39630697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3965544 3971555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3966567 4010216 Gain or loss Breast cancer - 20668451 chr6 3966567 4010216 Gain or loss Cancer - 20668451 chr6 3966567 4010216 Gain or loss Lung cancer - 20668451 chr6 3966567 4010216 Gain or loss Ovarian cancer - 20668451 chr6 3966567 4010216 Gain or loss Pancreas cancer - 20668451 chr6 3966567 4010216 Gain or loss Prostate cancer - 20668451 chr6 3966568 4010216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 3966568 4010216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 3966595 4010216 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39689264 39689652 Deletion Breast cancer Illumina 1M duo array 20393555 chr6 39691725 39691825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39780380 39780480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39829471 42415989 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 39835142 39835242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39863001 40010500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 39868120 39980622 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 39868120 39980622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 39868120 39980622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 39868150 39980626 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39871960 39872034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39906997 39907074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 39907010 53156994 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 39916841 39917020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 39923401 41137800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 3994547 32920690 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr6 3995241 3995559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 39975334 40010151 Gain and loss Pancreatic cancer SNP array 17952125 chr6 39976014 40973549 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 39980024 40003433 Copy number Autism exome sequencing 22495311 chr6 39980813 40010229 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 39980813 40010229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 39980813 40010229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40030000 40540000 Loss Breast cancer aCGH 21509527 chr6 40034131 40034550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40034134 40034562 Gain and loss Pancreatic cancer SNP array 17952125 chr6 40046722 40046909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40046892 40047139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40046901 40047001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40068532 40075950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40075300 40075406 Gain and loss Pancreatic cancer SNP array 17952125 chr6 40075300 40075406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40075316 40075986 Gain and loss Pancreatic cancer SNP array 17952125 chr6 40100000 41560000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr6 40131001 40133000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 4013601 4024390 Gain and loss Pancreatic cancer SNP array 17952125 chr6 4013601 4024454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 4013601 4024454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40139845 40139945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40170285 40170457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40173120 40173214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40184418 40184492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40188750 44391792 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr6 40190314 40212471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 40206001 40211500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 40230533 40230633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4024439 4075997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 4024439 4075997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4024442 4075997 Gain and loss Pancreatic cancer SNP array 17952125 chr6 40267501 40661000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 40289167 40289267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40292872 40725290 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 40357574 40357674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40362764 40362839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40420062 40431723 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 40420062 40431723 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 40420062 40431723 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40449512 40494536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 40454054 40455616 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 40454054 40455616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 40454054 40455616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40467307 40663157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 40467307 40663157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40467351 40663104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 40467351 40663104 Gain and loss Pancreatic cancer SNP array 17952125 chr6 40483571 40483668 Gain and loss Pancreatic cancer SNP array 17952125 chr6 40483571 40483668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 40487974 40519678 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 40500000 100600000 Loss Gastric cancer 5K BAC array CGH 17908304 chr6 40500000 46200000 Amplification Colorectal cancer References 16790693 chr6 40500000 46200000 Copy number Congenital adrenal hyperplasia Real-Time PCR 18478071 chr6 40500000 46200000 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr6 40500000 46200000 Copy number Systemic lupus erythematosus References 19287148 chr6 40500000 46200000 Deletion Colorectal cancer GISTIC software 19359472 chr6 40500000 46200000 Gain and amplification Multiple myeloma Array CGH 16616336 chr6 40500000 46200000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr6 40500000 51800000 Amplification Follicular lymphoma References 16790693 chr6 40500000 51800000 Amplification Osteosarcoma Agilent 244K arrays 19286668 chr6 40500000 57000000 Loss Neurocytoma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr6 40500000 93100000 Copy number Systemic lupus erythematosus TaqI Southern blots 17503323 chr6 40500000 99500000 Loss Gastric cancer 5K BAC array CGH 17908304 chr6 40503708 40519678 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 40538982 40582919 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 40551354 40551454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40552488 40552523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40560800 40560900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40600000 45200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 40600000 45200000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr6 40600000 45200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 40600000 45200000 Duplication Splenic marginal zone lymphoma BAC CGH array 21957467 chr6 40600000 45200000 Gain Ovarian cancer Affymetrix 20844748 chr6 4060922 4080830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 4060922 4080830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4060927 4080830 Gain and loss Pancreatic cancer SNP array 17952125 chr6 40656393 40656493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40659562 40659652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40660834 40660934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40661001 40663500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 40712025 40712125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40725156 40725248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40729961 40730061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40731420 40731520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40821616 40854958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 40863667 40863762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40875139 40875239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40917990 43889896 Amplification Breast cancer Illumina high-density SNP arrays 18852474 chr6 40926600 40926827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40926843 40926984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 40927245 41563034 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 4100000 7000000 Deletion dysmorphism Array-CGH 22105932 chr6 4100000 7000000 Deletion psychomotor delay Array-CGH 22105932 chr6 41057468 41069207 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 41101123 41101211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41102750 41114906 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41102750 41114906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41102750 41114906 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41102750 41114906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41118271 41120054 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41118271 41120054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41118271 41120054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41118703 41119830 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41128991 41140233 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41128991 41140233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41128991 41140233 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41128991 41140233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41137320 41563034 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 41137801 42504000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 41142509 41148294 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41142509 41148294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41142509 41148294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41142510 41148294 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41147501 41149000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 41148684 41178123 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 41148688 41174713 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41148688 41174713 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41148688 41174713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41148722 41174713 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41176739 41184111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41176750 41216545 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 41176751 41216545 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41178658 41178748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41187733 41221898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 41210274 41216545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41210274 41216545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41214971 41216166 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 41225061 41230053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41225061 41230053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41225061 41230053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4122527 33057260 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 41225320 41230048 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41234223 41238902 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41234223 41238902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41234223 41238902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41234225 41238902 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41266206 41276902 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41266206 41276902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41266206 41276902 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41266206 41276902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41266501 41268500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 41268501 41621000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 41284429 41293663 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41284429 41293663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41284429 41293663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41285350 41293663 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41304040 41314095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41304040 41314095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41304040 41314095 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41304040 41314095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41315234 41315341 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41315236 41315342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4134159 4135039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41345591 41345955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41351475 41362398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41351475 41362398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41351690 41362435 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41351690 41362435 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41352834 41352934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41362727 41364519 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 41378182 41378288 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41378182 41378288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41383882 41384281 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41383882 41384284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41390000 41600000 Duplication Schizophrenia BAC array CGH 17989066 chr6 41393720 41393820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41411371 41426580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41411371 41426580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41411371 41426593 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41411505 41426593 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41456549 41456649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41473450 41473550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41499727 41499827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41508073 41508624 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41512039 41512361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 41552394 41552474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41554923 41554971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41576436 41576536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41578160 41595568 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41598530 41598630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41621001 41863500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 41622141 41678100 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 41622142 41676336 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41622142 41678099 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41622142 41678099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41622142 41678099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4163587 4163687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41646275 41646375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41671029 41672343 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 41674864 41676094 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 41683843 41687315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41683843 41687315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41696767 41807431 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 41705771 41748787 Amplification or deletion Cancer Array CGH 17440070 chr6 41712784 41729955 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41712784 41729955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41712784 41729955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41714172 41729960 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 41714224 41729959 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41726813 41727261 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 4173587 4173761 Gain and loss Pancreatic cancer SNP array 17952125 chr6 4173699 4173756 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41738387 41738487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41742622 41743365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41759693 41810776 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 41759693 41811975 Gain or loss Breast cancer - 20668451 chr6 41759693 41811975 Gain or loss Cancer - 20668451 chr6 41759693 41811975 Gain or loss Lung cancer - 20668451 chr6 41759693 41811975 Gain or loss Ovarian cancer - 20668451 chr6 41759693 41811975 Gain or loss Pancreas cancer - 20668451 chr6 41759693 41811975 Gain or loss Prostate cancer - 20668451 chr6 41759694 41811975 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41759694 41811975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41759694 41811975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41759695 41811975 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41767372 41786705 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 41799640 41823099 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41799640 41823099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41799640 41823099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41812428 41823099 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41837490 41837590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41845892 41853897 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41845892 41855608 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41845892 41855608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41845892 41855608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41856467 41865610 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41856478 41865610 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41856478 41865610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41863378 41865614 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41863378 41865614 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41865612 41971077 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41870085 41971077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41870085 41971077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41873360 41971077 Gain or loss Breast cancer - 20668451 chr6 41873360 41971077 Gain or loss Cancer - 20668451 chr6 41873360 41971077 Gain or loss Lung cancer - 20668451 chr6 41873360 41971077 Gain or loss Ovarian cancer - 20668451 chr6 41873360 41971077 Gain or loss Pancreas cancer - 20668451 chr6 41873360 41971077 Gain or loss Prostate cancer - 20668451 chr6 41873362 41947359 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41892072 41935171 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 41902670 42016610 Loss Metastatic melanoma FISH, Enzo BioArray CGH Labeling System 18483359 chr6 41908549 41908649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 41908570 41908709 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41908570 41908709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41948014 41948250 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41948014 41948250 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41949526 41956323 Amplification or deletion Cancer Array CGH 17440070 chr6 41949777 42425545 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 41972876 41973435 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 41981069 42003851 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41981070 41996855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41981070 41996855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41981070 41996855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41982366 41983901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 41993132 41993242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41993134 41993242 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41996943 42008760 Gain and loss Pancreatic cancer SNP array 17952125 chr6 41996943 42008762 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 41996943 42008762 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr6 41996943 42008762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 41996943 42008762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 41999419 41999503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4200000 25200000 Amplification Osteosarcoma References 16790693 chr6 4200000 46200000 Amplification Hepatocellular carcinoma Array CGH 16750200 chr6 4200000 7100000 Amplification Ovarian cancer Affymetrix 50K XbaI SNP mapping arrays, Affymetrix U133plus2.0 arrays 19193619 chr6 4200639 4416634 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 42010648 42124404 Gain or loss Breast cancer - 20668451 chr6 42010648 42124404 Gain or loss Cancer - 20668451 chr6 42010648 42124404 Gain or loss Lung cancer - 20668451 chr6 42010648 42124404 Gain or loss Ovarian cancer - 20668451 chr6 42010648 42124404 Gain or loss Pancreas cancer - 20668451 chr6 42010648 42124404 Gain or loss Prostate cancer - 20668451 chr6 42010650 42017530 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42010650 42124402 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42010650 42124402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42010650 42124402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42011501 42018000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 42018001 42162500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 42034633 42034665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4204074 4416634 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 42049629 42053693 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42061329 42061643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 42094124 42094230 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42094124 42094230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42126229 42163170 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42126229 42163170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42126229 42163177 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42126255 42152957 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42148269 42263467 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 4214971 4220574 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 42162501 42261000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 42177963 42180645 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42177963 42180645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42177963 42180645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4217919 4218076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 42179477 42180645 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42183124 42218160 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42183124 42218335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42183145 42218160 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42217755 42217855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 42231152 42255765 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42231152 42255770 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42231152 42255770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42231152 42255770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42231257 42239134 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42231257 42239134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42259001 42270672 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42259001 42270672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42259001 42270672 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42259001 42270672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42282517 42293581 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42282517 42293581 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42282517 42293581 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42282517 42293581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42300646 42527761 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 42300647 42527767 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42300647 42527767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42300647 42527767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42302086 42302351 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42303843 42527761 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42332376 42332451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 42335863 75129655 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-527K arrays 21546498 chr6 42338151 42338275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 42338151 42338285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 42359640 42359709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 42415989 42764733 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 42419242 42419317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 42474681 42505880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 42487916 42488112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42488037 42488112 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42488037 42488112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42571307 42571403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 42575384 42575725 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42575426 42575738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42581217 42581322 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42581217 42581322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42609763 44458628 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-514K arrays 21546498 chr6 42639778 42769220 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42639778 42769220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42639778 42769220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42640036 42766889 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42677064 42746542 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 42677590 42677751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 42677597 42677757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 42697160 42711496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 42739878 42739984 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42739878 42739984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42767957 43634442 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 42772314 42798287 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42772314 42798287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42772314 42798287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42772318 42798287 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42802830 42803416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42802941 42803416 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42806583 42822138 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 42820197 42822536 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42820197 42822536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42820197 42822536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42820217 42822536 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42822674 42944274 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42822674 42944274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42822674 42944274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42836192 43032473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42858643 42861278 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42876007 42876076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 42896772 42944106 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42955351 42965612 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42955351 42965612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42955351 42965612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42955387 42963645 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42955648 42962709 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 42966199 42966504 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 42966199 42966504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42966199 42966504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 42972470 42974953 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42976654 42978208 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42991705 43001551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 42991705 43001551 Gain and loss Pancreatic cancer SNP array 17952125 chr6 42991705 43001551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43003718 43018967 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43004838 43018967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43004838 43018967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 430137 638109 Gain or loss Breast cancer - 20668451 chr6 430137 638109 Gain or loss Cancer - 20668451 chr6 430137 638109 Gain or loss Lung cancer - 20668451 chr6 430137 638109 Gain or loss Ovarian cancer - 20668451 chr6 430137 638109 Gain or loss Pancreas cancer - 20668451 chr6 430137 638109 Gain or loss Prostate cancer - 20668451 chr6 430139 638109 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 430139 638109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 430139 638109 Gain and loss Pancreatic cancer SNP array 17952125 chr6 430139 638109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43028911 43029011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43036001 43043500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 43036478 43039595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43036478 43039595 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43036478 43039595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43039592 43054874 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43039725 43054866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43039725 43054866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43042221 43042321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43043501 43330000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 43060307 43088058 Gain or loss Breast cancer - 20668451 chr6 43060307 43088058 Gain or loss Cancer - 20668451 chr6 43060307 43088058 Gain or loss Lung cancer - 20668451 chr6 43060307 43088058 Gain or loss Ovarian cancer - 20668451 chr6 43060307 43088058 Gain or loss Pancreas cancer - 20668451 chr6 43060307 43088058 Gain or loss Prostate cancer - 20668451 chr6 43060308 43088054 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43060308 43088054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43060308 43088056 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43087943 43089596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43087943 43089596 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43087943 43089596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43089955 43097010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43089955 43097010 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43089955 43097010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43097351 43105312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43097351 43105312 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43097351 43105312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43111201 44907500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 43111912 43112216 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43111912 43112216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43112236 43112538 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43112236 43112538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43113334 43129632 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43113336 43129632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43113336 43129632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43129745 43135220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43129745 43135220 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43129745 43135220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43131438 43131497 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr6 43135350 43150815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43135350 43150815 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43135350 43150815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43152006 43237435 Gain or loss Breast cancer - 20668451 chr6 43152006 43237435 Gain or loss Cancer - 20668451 chr6 43152006 43237435 Gain or loss Lung cancer - 20668451 chr6 43152006 43237435 Gain or loss Ovarian cancer - 20668451 chr6 43152006 43237435 Gain or loss Pancreas cancer - 20668451 chr6 43152006 43237435 Gain or loss Prostate cancer - 20668451 chr6 43152007 43237435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43152007 43237435 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43152007 43237435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43154794 43154889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43182536 43182636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43192313 43192398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43240000 44227000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr6 43246897 43257222 Gain or loss Breast cancer - 20668451 chr6 43246897 43257222 Gain or loss Cancer - 20668451 chr6 43246897 43257222 Gain or loss Lung cancer - 20668451 chr6 43246897 43257222 Gain or loss Ovarian cancer - 20668451 chr6 43246897 43257222 Gain or loss Pancreas cancer - 20668451 chr6 43246897 43257222 Gain or loss Prostate cancer - 20668451 chr6 43246898 43257219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43246898 43257219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43247011 43257217 Gain and loss Pancreatic cancer SNP array 17952125 chr6 4325357 4325457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43255034 43256584 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 43257900 43300302 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43257900 43300303 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43257900 43300303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43276889 43276989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43280694 43280787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43301347 43305189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43301347 43305189 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43301347 43305189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43319200 43363975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43319200 43363975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43328499 43363975 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43330001 43385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 43373976 43381254 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43373976 43381254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43373980 43381252 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43381189 43384513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43381189 43384513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43381682 43384508 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43385947 43386073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43394010 43445194 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43403850 43404192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43407491 43445159 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43407491 43445159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43407491 43445159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43413384 43413450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43439272 43439950 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43439314 43439986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43493810 43493896 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43493810 43493905 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43493810 43493905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43493939 43494051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 43493957 43494024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 43499556 43499656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4350000 32850000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr6 43500501 43531500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 43503269 43526141 Copy number Gastric cancer Human cDNA microarrays 17229543 chr6 43503270 43526141 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43503270 43526142 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43503270 43526142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43503270 43526142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43526068 43531764 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43526068 43531764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43526068 43532348 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43526070 43532348 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43549902 43550005 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43549902 43550008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43553289 43582269 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43553289 43582269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43553289 43582269 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43553289 43582269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43556800 44361368 Amplification Cancer Affymetrix 250K Sty array 20164920 chr6 43564501 43587000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 43582685 43586402 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43582685 43586402 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43582685 43586402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43587543 43592680 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43587544 43592701 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43587544 43592701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43587544 43592701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43589125 44077743 Gain Bladder cancer array-CGH 21909424 chr6 43592769 43605071 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43592769 43605071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43592769 43605071 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43592769 43605071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43598050 43654163 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43598050 43654163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43598050 43654163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43598053 43651729 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43614537 43615418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43614684 43615259 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43617890 43617952 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43619859 43619985 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43644038 43644128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43651923 43691357 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43651923 43691375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43651923 43691375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43651923 43691375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43686805 43731620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 43695965 43704914 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43695965 43704914 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43695965 43704961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43695965 43704961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43708667 43716664 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43708667 43716664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43708667 43716664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43711585 43716653 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43720717 43720804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43720772 43748165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43720772 43748165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43720788 43748165 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43720788 43748314 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43722825 43722889 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 4373196 4373314 Gain and loss Pancreatic cancer SNP array 17952125 chr6 4373196 4373314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4373196 4373315 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43733552 43733641 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43733552 43733641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43740001 44141000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 43741228 45692992 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 43747020 43763506 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 43747020 43763506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43747020 43763506 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43747020 43763506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43760000 44120000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr6 43773003 43773098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43781664 43782466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43818101 43818201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43828551 43828654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43828558 43828666 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43828558 43828666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43845924 43862194 Gain and loss Pancreatic cancer SNP array 17952125 chr6 43845926 43862202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 43845926 43862202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 43845930 43862201 Gain or loss Breast cancer - 20668451 chr6 43845930 43862201 Gain or loss Cancer - 20668451 chr6 43845930 43862201 Gain or loss Lung cancer - 20668451 chr6 43845930 43862201 Gain or loss Ovarian cancer - 20668451 chr6 43845930 43862201 Gain or loss Pancreas cancer - 20668451 chr6 43845930 43862201 Gain or loss Prostate cancer - 20668451 chr6 43845930 43862201 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 43845963 43846991 Loss Maculopathy TaqMan real-time PCR 22355348 chr6 43869200 43869299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43873805 43873880 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 43875842 43875889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43895215 43895489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43895474 43895591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43895475 43895703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 439232 444865 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 43954733 43954825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 43963907 44003452 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 43966743 44013921 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44076315 44080864 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44076317 44080864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44076317 44080864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44119321 44119407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44141001 44144000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 44144001 44149500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 44149501 44153500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 44153501 44383500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 44164963 44165423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44164975 44165411 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44169576 44169853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44189349 44203169 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 44189353 44203169 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44189353 44203169 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44189353 44203169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44189410 44203134 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44203354 44231233 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44203354 44231234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44203354 44231234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44203354 44231234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44228670 44228759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44234526 44260117 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44234526 44260117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44234526 44260117 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44234526 44260117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44264371 44268474 Amplification or deletion Cancer Array CGH 17440070 chr6 44267562 44267649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44270563 44270632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44271508 44779449 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 44271508 46586309 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 44280157 44280232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44292853 44320856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 44294955 44299211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 44295220 44309866 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44295220 44309866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44295220 44309866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44295351 44309857 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44301200 44334869 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 44322802 44329598 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44322802 44329598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44322802 44329598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44322812 44329597 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44322826 44329592 Copy number Lung cancer - 20668451 chr6 44322826 44329592 Gain or loss Breast cancer - 20668451 chr6 44322826 44329592 Gain or loss Cancer - 20668451 chr6 44322826 44329592 Gain or loss Lung cancer - 20668451 chr6 44322826 44329592 Gain or loss Ovarian cancer - 20668451 chr6 44322826 44329592 Gain or loss Pancreas cancer - 20668451 chr6 44322826 44329592 Gain or loss Prostate cancer - 20668451 chr6 44328839 44328839 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr6 44329811 44333269 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44329811 44333269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44329811 44333269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44329820 44333250 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 44330421 44333250 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44333881 44341503 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44333881 44341503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44333881 44341503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44334409 44341503 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44346458 44454672 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44346458 44454672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44346521 44385792 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44346871 44353951 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44346871 44353951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44355880 44373405 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44355880 44373405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44355880 44373405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44355881 44373405 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44374441 44389041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44374441 44389041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44375164 44389041 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44375166 44389041 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44418464 44452881 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44418464 44452881 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44418464 44452881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44445475 44446901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 44455153 44455281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4445625 33374716 Copy number Lung cancer - 20668451 chr6 4445625 33374716 Gain or loss Breast cancer - 20668451 chr6 4445625 33374716 Gain or loss Cancer - 20668451 chr6 4445625 33374716 Gain or loss Lung cancer - 20668451 chr6 4445625 33374716 Gain or loss Ovarian cancer - 20668451 chr6 4445625 33374716 Gain or loss Pancreas cancer - 20668451 chr6 4445625 33374716 Gain or loss Prostate cancer - 20668451 chr6 44463457 44525608 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44463457 44525608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44463457 44525608 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44463457 44525608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44466155 73840214 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 chr6 44508450 44508698 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44508450 44508698 Gain and loss Pancreatic cancer SNP array 17952125 chr6 44590565 44590660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44603276 44603376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44603294 44603346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 44613960 44625109 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 44619524 44623716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 44621319 44622929 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 44641832 45514372 LOH Normal High-resolution SNP genotyping 21211785 chr6 44653787 45560568 LOH Normal High-resolution SNP genotyping 21211785 chr6 44668389 44696997 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 44683048 44683117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44721463 44721778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 4472596 33398682 Gain or loss Breast cancer - 20668451 chr6 4472596 33398682 Gain or loss Cancer - 20668451 chr6 4472596 33398682 Gain or loss Lung cancer - 20668451 chr6 4472596 33398682 Gain or loss Ovarian cancer - 20668451 chr6 4472596 33398682 Gain or loss Pancreas cancer - 20668451 chr6 4472596 33398682 Gain or loss Prostate cancer - 20668451 chr6 44739644 45512809 LOH Normal High-resolution SNP genotyping 21211785 chr6 44748356 44748456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44757452 44757552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44766405 44766475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44798615 44798695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44810311 44810386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 44861051 44896170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 44881198 45512809 LOH Normal High-resolution SNP genotyping 21211785 chr6 44904447 45453669 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 44904447 45453669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 44904447 45453669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 44973268 45017893 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 44987769 45164736 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 4500243 4500275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45008368 45181721 Gain and loss Pancreatic cancer SNP array 17952125 chr6 45013269 45349965 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 45133973 45165270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 45167652 47702681 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 45173734 45174975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 45200000 51100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 45200000 51100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 45200000 51100000 Duplication Heart disease Illumina 610Quad Beadchip platform 21282601 chr6 45200000 51100000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr6 45200000 58400000 Loss Breast cancer Array CGH 16608533 chr6 45234585 45235226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 45260268 45260368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45273389 45273485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 45277736 45277836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45279340 57358347 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 45314598 45314698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45315283 45315383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45333739 45393862 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 45346585 45347147 Gain and loss Pancreatic cancer SNP array 17952125 chr6 45397511 45398631 Gain and loss Pancreatic cancer SNP array 17952125 chr6 45404031 45623020 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr6 45404031 45626797 Microdeletion Cleidocranial dysplasia Array CGH 20014132 chr6 45404031 45626797 Microdeletion Non-small cell lung cancer - 17429853 chr6 45404032 45626796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 45404032 45626796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 45432113 45432213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45440916 45453669 Gain and loss Pancreatic cancer SNP array 17952125 chr6 45471316 45598385 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 45498292 45623108 Gain and loss Pancreatic cancer SNP array 17952125 chr6 45500000 170899992 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr6 45500000 170899992 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr6 45500000 84700000 Loss Glioblastoma multiforme aCGH 21080181 chr6 45500000 87500000 Loss Glioblastoma multiforme conventional CGH 21080181 chr6 45514701 46197800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 45515415 45515505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45522051 45522090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45533960 45534060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4555845 4557151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 4555845 4557151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 45562748 45562848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45578251 45578331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45608094 45608194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45706159 45706204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45721819 45721898 Gain and loss Pancreatic cancer SNP array 17952125 chr6 45721819 45721898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 45808189 45808284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45822146 45822246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45852742 45852825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45912409 45912528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4594227 4594327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 45974171 46155938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 45974171 46155938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 45975344 45975553 Gain and loss Pancreatic cancer SNP array 17952125 chr6 45977383 46156044 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46012546 46012646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46026357 46026457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46075418 46075744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 46094441 46094546 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46094441 46094547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46108993 46109138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46134331 46141981 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr6 46186817 46186917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46200000 118300000 Loss Gastric cancer 5K BAC array CGH 17908304 chr6 46200000 51800000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chr6 46200000 57000000 Copy number Neuroblastoma QPCR 19686582 chr6 46200000 57000000 Copy number Neuroblastoma real-time reverse transcription-PCR 17289879 chr6 46200000 57000000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 chr6 46200000 57000000 Gain Breast cancer Microarray-based CGH 17133270 chr6 46200000 57000000 Gain Esophageal adenocarcinoma MLPA 18820669 chr6 46200000 88000000 Amplification Esophageal squamous carcinoma CGH 18350619 chr6 46205689 46222237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46205689 46222237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46205871 46222237 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46213456 46224408 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 46234885 46246676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46234885 46246676 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46234885 46246676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46248697 46248781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46280921 46281229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46296427 46567670 Copy number Breast cancer Univariate Analysis 17375183 chr6 46296427 46567670 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr6 46296428 46567668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46296428 46567668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46296434 46532672 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46298201 46316528 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 46319692 46319757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46347085 46347185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46361428 46361513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4636153 4636253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46383001 46383101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4640395 4648365 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 4645683 6910767 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 46474474 46476282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 46476405 46476499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4647696 4649012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4651392 4900771 Gain and loss Pancreatic cancer SNP array 17952125 chr6 4651392 4900774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 4651392 4900774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46542326 47216293 LOH Normal High-resolution SNP genotyping 21211785 chr6 4660925 4661728 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 46625405 46728482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46625405 46728482 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46625405 46728482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46628881 48176167 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 46679358 46679458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46692539 46692639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46716093 46716193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46728638 46752709 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46728638 46757267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46728638 46757267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46729184 46729269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46737434 46737534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46763825 46780013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46763825 46780013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46766483 46778108 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46780012 46811110 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr6 46780013 46811389 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46780068 46811069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46780068 46811069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46808141 46999562 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 46808141 46999562 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 46808141 47036030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 46869053 46915478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46869053 46915478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46869085 46915478 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46903506 46939935 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 46924534 46924624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46928208 47030639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 46928208 47030639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 46928298 47030493 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46956801 47462800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 46958237 46958337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46976931 47094194 Gain and loss Pancreatic cancer SNP array 17952125 chr6 46990240 46990340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 46996877 46996954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47026271 47026371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47027299 47027369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47039641 47039710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47075076 47118041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 47075076 47118041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47095587 47117989 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47115359 47115423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47121280 47121380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4714798 4714852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47171793 47171893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47197356 47197444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47199615 47199967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 47236688 57270277 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr6 47272170 47304150 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 47307228 47385639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 47307228 47385639 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47307228 47385639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47312585 47312784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47312799 47312946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47388101 47388193 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 47458255 47458373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 47527830 47558425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 47531786 47536291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 47534469 47566601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 4755279 4755506 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47553483 47702955 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 47553484 47702944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 47553484 47702944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47553899 47702606 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47564762 47564863 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47564762 47564865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47620405 47630725 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 47638317 47638713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47671001 47676700 Deletion Glioma mate-paired sequence 20126413 chr6 47700000 180857866 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr6 47708044 47708266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47708260 47708441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47732182 47758381 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47732182 47770887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 47732182 47770887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47761559 47794137 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47761559 47797716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 47761559 47797716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47818292 50707595 LOH Normal High-resolution SNP genotyping 21211785 chr6 47828523 47828935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4784872 4784972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47857757 47900394 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47857757 47902073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 47857757 47902073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47864790 47864890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47888922 47889012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47899085 47899245 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47899085 47899245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47899085 47899247 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47908169 47908269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47918958 49481767 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 47953998 47955515 Gain and loss Pancreatic cancer SNP array 17952125 chr6 47953998 48144384 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 47953998 48144384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 47974224 47974292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 47998161 48512395 LOH Normal High-resolution SNP genotyping 21211785 chr6 47999676 48512395 LOH Normal High-resolution SNP genotyping 21211785 chr6 4803800 4803895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48084327 48144299 Gain and loss Pancreatic cancer SNP array 17952125 chr6 48090735 48092535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 48111359 48111459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48113405 48113505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48130105 48130160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48139896 48139996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48151823 48151923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48224584 48225620 Gain and loss Pancreatic cancer SNP array 17952125 chr6 48224673 48225620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 48273187 52259849 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 48289299 48290489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 48311498 48311583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48371209 49104639 LOH Normal High-resolution SNP genotyping 21211785 chr6 48443268 49487303 LOH Normal High-resolution SNP genotyping 21211785 chr6 48454532 48487977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 48489133 52026397 Loss Bladder cancer array-CGH 21909424 chr6 48489314 48489389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48567756 48567856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48782 1006335 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 48866719 48883208 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 48925153 49993262 LOH Normal High-resolution SNP genotyping 21211785 chr6 48925519 48925598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 48931018 48931050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 48945812 48992037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 48959987 52222997 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-545K arrays 21546498 chr6 48991133 48991231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 49029055 49029339 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 49036901 49048400 Deletion Glioma mate-paired sequence 20126413 chr6 49038061 49050451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 49038825 49054509 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 49038836 49046464 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 49039688 49043159 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 chr6 49039688 49043159 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 chr6 49039688 49043159 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 49039688 49043159 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 49056471 49056541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 49153308 49153635 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49153308 49153647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4917892 4917960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4924305 4924727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49300345 49300445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 49349200 49349394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49389654 49403070 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 4940280 4949264 Gain and loss Pancreatic cancer SNP array 17952125 chr6 4940280 4949270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 4940280 4949270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49420419 49420479 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49433818 49436052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49433914 49436051 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49437858 52259849 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 49463148 49463223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 49466679 49467287 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49506949 49538990 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 49506958 49538889 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49506958 49538990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49506958 49538990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4952807 4952906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 49539055 49568779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49539055 49568779 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49539055 49568779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49575630 49602565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49575630 49602565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49626347 49637584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49626347 49637584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49626465 49627199 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49641596 49655838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49641670 49655839 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49680848 49712546 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 49680856 49712511 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49680858 49712546 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49680858 49712546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49706199 49706298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 49768031 49789233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49768031 49789233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49768031 49789258 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49793948 49794048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 49801832 49801921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 49803056 49813075 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49803056 49820040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49803056 49820040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 4980801 4985900 Deletion Glioma mate-paired sequence 20126413 chr6 4982249 4984173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 49861606 49862859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49861606 49862859 Gain and loss Pancreatic cancer SNP array 17952125 chr6 49861606 49862859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49907724 49907801 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 49909929 49942171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 49909929 49942171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49909943 49952768 Gain and loss Pancreatic cancer SNP array 17952125 chr6 4991186 4991334 Gain and loss Pancreatic cancer SNP array 17952125 chr6 4991186 4991334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 49924747 49961305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 49933012 52256295 LOH Normal High-resolution SNP genotyping 21211785 chr6 49949999 50009999 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 chr6 49955624 49955758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 4996927 4997027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50004668 50004752 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 5001 346084 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 5001 352978 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 5001 352978 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 5001 522691 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 5001 598718 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 5001 91701 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 5001 91701 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 50021773 50025116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50029308 50029408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50035964 50036083 Gain and loss Pancreatic cancer SNP array 17952125 chr6 50035964 50039777 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 50035964 50039777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50037888 50052508 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 50044349 50045297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50063037 50115669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 50065764 50065861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50084810 50097653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 50084810 50097653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50097162 50097262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50108423 50108992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5011028 5012215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50119247 50124323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 50119247 50124323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50119370 50119432 Gain and loss Pancreatic cancer SNP array 17952125 chr6 50187950 50188050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50236322 50236422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50283390 50283490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5030906 5031795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 5030906 5031795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5030907 5031795 Gain and loss Pancreatic cancer SNP array 17952125 chr6 5040938 5041052 Gain and loss Pancreatic cancer SNP array 17952125 chr6 50475777 50475877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5048887 5054467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5048887 5206167 Gain and loss Pancreatic cancer SNP array 17952125 chr6 5053651 5206167 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 5053653 5206167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 5053653 5206167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50548434 50548519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50560426 50560754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 50576426 50576489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50623687 50639883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 50627298 50775800 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 50649959 50659352 Gain Normal 244K array 17666407 chr6 50658390 50690687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 5066823 5112026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 5068318 5068418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50728691 50728791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5078106 5078206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50789216 50848705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 50789216 50848705 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr6 50789216 50848705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 50789216 50848705 Gain and loss Pancreatic cancer SNP array 17952125 chr6 50789216 50848705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5080129 5080606 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 50810680 50810780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50817416 50817515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50825336 52318551 LOH Normal High-resolution SNP genotyping 21211785 chr6 50843874 50843974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50864893 50873930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 50873916 50874226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 50894398 50923285 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 50894398 50923285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 50894398 50923285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50894542 50919634 Gain and loss Pancreatic cancer SNP array 17952125 chr6 50907470 50907570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 50919 51856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50932858 50933359 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 50932858 50933359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50932927 50933334 Gain and loss Pancreatic cancer SNP array 17952125 chr6 50958890 50958989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5097246 5554142 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 50973290 50973895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50988384 50988931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 50988384 50989112 Gain and loss Pancreatic cancer SNP array 17952125 chr6 5106185 5106285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51088571 51088691 Gain and loss Pancreatic cancer SNP array 17952125 chr6 51088571 51088691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 51096930 51899775 Duplication Autism Array CGH 22102821 chr6 51102754 51102904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51139144 51140722 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 51229517 51274348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 51291600 51291700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 513061 720274 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 51306460 51308137 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 51306460 51308137 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 51307432 51308081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 51314359 51359309 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 51329002 51329091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51336588 51336688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51364246 51364561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 51382838 51383062 Gain and loss Pancreatic cancer SNP array 17952125 chr6 51382838 51383062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 51437447 51437522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 51443174 51443258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51453433 51453528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51472475 51548810 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 5150410 5150771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 51509912 51510230 Gain and loss Pancreatic cancer SNP array 17952125 chr6 51509912 51510302 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 51521744 51521993 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 51560371 51560463 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5157944 6364910 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 51580637 51580737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51588103 52060382 Copy number Lung cancer - 20668451 chr6 51588103 52060382 Gain or loss Breast cancer - 20668451 chr6 51588103 52060382 Gain or loss Cancer - 20668451 chr6 51588103 52060382 Gain or loss Lung cancer - 20668451 chr6 51588103 52060382 Gain or loss Ovarian cancer - 20668451 chr6 51588103 52060382 Gain or loss Pancreas cancer - 20668451 chr6 51588103 52060382 Gain or loss Prostate cancer - 20668451 chr6 51588104 52060382 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 51588104 52060382 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 51588104 52060382 Gain and loss Pancreatic cancer SNP array 17952125 chr6 51588104 52060382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 51588188 51588273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51622167 51622570 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr6 51625309 51625634 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 51693932 51694032 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51722484 51722995 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr6 51761469 51761521 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 51776784 51777084 Gain Normal 244K array 17666407 chr6 51780890 51781041 Gain Normal 244K array 17666407 chr6 51789473 51789573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51818197 51859478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 51831869 51831968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51838108 51859607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 51844068 51844761 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 51844127 51844735 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 51845393 51858813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 51846101 51855400 Deletion Glioma mate-paired sequence 20126413 chr6 51846705 51896887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 51922950 51923050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51929565 51929673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51948243 51948337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51948429 51948716 Gain and loss Pancreatic cancer SNP array 17952125 chr6 51948429 51948716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 51969375 51969474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 51985699 52087584 Gain aortic dissecting aneurysms Array-CGH 22263138 chr6 51985699 52087584 Gain Stenocardia MACArray Karyo 35K BAC-chips 21860640 chr6 51985699 52087584 Gain Vasospasm MACArray Karyo 35K BAC-chips 21860640 chr6 5202873 5202938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5206583 5716815 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 5206583 5716815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5206758 5716808 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52117106 52117191 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52117106 52117191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52121680 52121798 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52121680 52121798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52159144 52163395 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52159144 52163395 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr6 52159144 52163395 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52159144 52163395 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52159144 52163395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52171408 52171493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52209438 52217257 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52209438 52217257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52209438 52217257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52209443 52217257 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52219217 52220119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52236771 52257541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52236771 52257541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52236771 52257541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52237345 52257431 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52259849 54456623 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 52286087 52286187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52334895 52380435 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52334895 52380532 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52334895 52380532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52334895 52380532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52352397 52352497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5236290 5236627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52392953 52468540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52392953 52468540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52393065 52465254 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52393071 52465177 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52408333 52408433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52445394 52445447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 52461564 52461664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52470163 52549821 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52470163 52549821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52470163 52549821 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52470163 52549821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52536903 52537097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52537116 52537295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52545561 52545657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52549977 53150667 LOH Normal High-resolution SNP genotyping 21211785 chr6 52551914 55030810 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr6 52600000 57200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 52600000 57200000 Copy number Normal - 21701786 chr6 52600000 57200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 52600000 58400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr6 52630130 52630411 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52630130 52630411 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52630130 52630411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52638031 52639635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52643843 52659345 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52643843 52659345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52643843 52659345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52643864 52659345 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52660687 52676582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5267637 5369510 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 52696900 53331800 Gain Prostate cancer Array CGH 18632612 chr6 52712347 52717413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52722898 52736232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52722898 52736232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52723140 52736283 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52723140 52736283 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52731467 52770653 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 52738037 52751104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52738037 52751104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52760830 52799417 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 52764183 52776559 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52764374 52776616 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52764374 52776616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52764374 52776616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52778370 52786217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52804412 52818945 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52804412 52818945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52804412 52818945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52804505 52818852 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52820667 52843086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52845771 52852697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52854841 52856930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52854841 52856930 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52869396 52882455 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52869396 52882455 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52869396 52882455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52869404 52882455 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52875284 52892054 Loss Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 chr6 52896888 52918637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 52900000 105500000 Loss Gastric cancer 5K BAC array CGH 17908304 chr6 52900000 139000000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr6 52900000 142800000 Loss Gastric cancer 5K BAC array CGH 17908304 chr6 52900000 57000000 Deletion Colorectal cancer PCR 16912164 chr6 52900000 70000000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr6 52906021 52910203 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 52906085 52906185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52912663 52930278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52944565 52944665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52950710 52968099 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52950710 52968099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52950710 52968099 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52950710 52968099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52951917 52952012 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52951922 52952012 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52968377 52968707 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52968377 52968707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 52968377 52968708 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52973861 52973956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 52974057 53034549 Gain and loss Pancreatic cancer SNP array 17952125 chr6 52974068 53034549 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 52974068 53034559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 52974068 53034559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53037755 53072360 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53037755 53073630 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 53037755 53073630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 53037755 53073630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53038090 53038548 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53060898 53063101 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 53063158 53063257 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53063158 53063258 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53063158 53063260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53063718 53064014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53063718 53064018 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53063718 53064018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53099721 53121586 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 53099721 53121586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 53099721 53121586 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53099721 53121586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53120566 53120686 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53120566 53120686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53126233 53143479 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 53126552 53126655 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53145837 53145903 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5315260 5315348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53156994 53442554 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 5315955 5328693 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 53167719 53167804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53169477 53169916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53179355 53181454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53181488 53181562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53192018 53192181 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53192018 53192181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53208529 53209054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53217652 53217752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53222207 53222244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 532240 11282482 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-541K arrays 21546498 chr6 53239579 53239679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53240155 53321901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 53240155 53321901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53240155 53321906 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 53240155 53321906 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53309700 53310103 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53309700 53310103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53327449 53327822 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53327472 53327822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53341427 53341766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5334196 5379353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 53351260 53351618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53362070 54698758 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 53371700 53371800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53388223 53388354 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53388223 53388354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53389576 53421163 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 53399341 53399420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53409108 53409186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53429204 53429289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53442554 58839638 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 53445162 53445235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 53448522 53448617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53454087 53454187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53470098 53517790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 53470098 53517790 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53470098 53517790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53490534 53490634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53512633 53512718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53534389 53534489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53620658 53638465 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 53620658 53638465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53624343 53626863 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53624355 53628029 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53636927 53637069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53648618 53648759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53648746 53648846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53648748 53648898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53655111 55298810 LOH Normal High-resolution SNP genotyping 21211785 chr6 53691954 53692054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53751612 53751712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53756717 53785164 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 53767254 53896803 Gain and loss Pancreatic cancer SNP array 17952125 chr6 53767737 53896878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 53767737 53896878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53848108 53882272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 538773 552812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 53877697 53877797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53947332 54104052 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 5397013 5397113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 53971874 53979842 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 5397917 5398866 Loss Normal 244K array 17666407 chr6 53982077 54027785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 53989240 53989534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53991673 54239040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 53991727 54239035 Gain and loss Pancreatic cancer SNP array 17952125 chr6 539970 541531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 54002077 58887587 LOH Normal High-resolution SNP genotyping 21211785 chr6 54004667 55298810 LOH Normal High-resolution SNP genotyping 21211785 chr6 5400 6300 Copy number Lymphoma KC-SMARTR 21070656 chr6 54017837 54060189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 54019954 54970322 LOH Normal High-resolution SNP genotyping 21211785 chr6 54032763 54042787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 54032893 54033029 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 54033152 54043294 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 54034195 54057939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 54035101 54044400 Deletion Glioma mate-paired sequence 20126413 chr6 54035226 54058290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 54036634 54042843 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 54036723 54042793 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 54039014 54050873 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 54039032 54043644 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 54039043 54043374 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 54077891 64444019 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 54124184 54124284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5412666 5412766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54164352 54164446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54167304 54167394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54220045 55164912 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 54236022 54236122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54280723 54362870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 54280723 54362870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 54281162 54362870 Gain and loss Pancreatic cancer SNP array 17952125 chr6 54293600 54293889 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 54294010 54294110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54308704 55458773 LOH Normal High-resolution SNP genotyping 21211785 chr6 54377241 55145161 LOH Normal High-resolution SNP genotyping 21211785 chr6 54415928 54415960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54435047 54435147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54457922 54458607 Gain and loss Pancreatic cancer SNP array 17952125 chr6 54457922 54458622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 54458664 55813118 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr6 54500000 130400000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr6 54500000 131300000 Loss Glioblastoma multiforme aCGH 21080181 chr6 54525622 54526870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 54575244 54575907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 54594658 54899920 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 54597362 54598245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 54597398 54598002 Gain and loss Pancreatic cancer SNP array 17952125 chr6 546211 999017 Gain and loss Pancreatic cancer SNP array 17952125 chr6 54661813 54665335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 54664395 54664725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 54714323 54714546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54714539 54714768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54743340 54743780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 54759144 54759248 Gain and loss Pancreatic cancer SNP array 17952125 chr6 54759144 54759248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 54770495 54773876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 54772401 54772496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5481920 5526594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 54819528 54914162 Gain and loss Pancreatic cancer SNP array 17952125 chr6 54819528 54914779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 54819528 54914779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 54849405 54883275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 54860950 56323889 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 54888266 54888593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5488873 5489088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54908833 57334141 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 54931591 54931741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 54942930 54963688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 54954057 54959624 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 54954340 54959405 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 54954341 54959397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 54956414 54958101 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 54972323 54972649 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 55033648 55033737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55147025 55255376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 55147025 55255376 Gain and loss Pancreatic cancer SNP array 17952125 chr6 55147025 55255376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 55166407 55166512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55264471 55685173 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 55300000 55990000 Gain Breast cancer aCGH 21509527 chr6 55300226 55375250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 55300226 55375250 Gain and loss Pancreatic cancer SNP array 17952125 chr6 55300226 55375250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 55367349 55412004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 55369983 55370300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5540000 8380000 Loss Acute lymphoblastic leukemia - 21339820 chr6 55404078 57290974 LOH Normal High-resolution SNP genotyping 21211785 chr6 55407127 55551971 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 55407127 55551971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 55407132 55551944 Gain and loss Pancreatic cancer SNP array 17952125 chr6 55415766 55415832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5543399 5543491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55449602 55453615 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 55449698 55450292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5545437 8054930 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 chr6 55468285 55468418 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr6 55469499 55469599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55476461 55503779 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 5554142 8238406 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 55544176 78754776 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 5554459 5555427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 5554459 5555427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 55569781 55569873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 55600636 55600931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 55627225 55627324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55653399 55653778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 55668261 57470105 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 55669395 55669495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5569325 5569408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 55703661 55723285 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 chr6 55715349 55736242 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 55728199 55848334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 55728199 55848334 Gain and loss Pancreatic cancer SNP array 17952125 chr6 55728199 55848334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 55744206 55744306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55774045 55774125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55789011 56323889 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 55807817 55807917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55817723 55817823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55892950 55938010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 55894343 55894488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 558995 559095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55901183 56569346 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 55901183 56569346 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 55901879 55901929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 55912544 55913381 Gain and loss Pancreatic cancer SNP array 17952125 chr6 55912544 55913381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 55934082 55954657 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 55934096 55954486 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 55934114 55951619 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 55935097 55963282 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 55939083 56017029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 55947216 55947316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56008818 56008918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56015606 56026065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 56029347 56366851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 56029347 56366851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 56029348 56220303 Gain and loss Pancreatic cancer SNP array 17952125 chr6 56043476 56046717 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 56164088 56364441 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr6 56200305 56201119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 56201285 56201353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 56214683 58887587 LOH Normal High-resolution SNP genotyping 21211785 chr6 56217906 56218006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56249286 56249553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 56305472 56305566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56310917 57270276 LOH Normal High-resolution SNP genotyping 21211785 chr6 56326566 56326646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56373294 56373780 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 5637701 5650541 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 56387460 56387576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56402241 57104647 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 56404715 56405938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 56425005 56900535 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 56430743 56927364 Deletion Intellectual disability 100k SNP Array 21811512 chr6 56430744 56927363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 56430744 56927363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 56430755 56927363 Gain and loss Pancreatic cancer SNP array 17952125 chr6 5645218 5678577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 56473262 56473322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56529336 58887587 LOH Normal High-resolution SNP genotyping 21211785 chr6 56578796 56579965 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 56600000 57210000 Gain Breast cancer aCGH 21509527 chr6 56613795 56613887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56614678 56614778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56644449 56677960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 56700000 113900000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr6 56700000 130400000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 chr6 56700000 170899992 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr6 56702521 56702703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56702712 56702812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56702720 56702810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56818064 56818164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 56843948 56844502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 56860001 56906720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 56864601 56870400 Deletion Glioma mate-paired sequence 20126413 chr6 56866306 56868905 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 56918487 56918594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 56918487 56918599 Gain and loss Pancreatic cancer SNP array 17952125 chr6 56918487 56918601 Gain and loss Pancreatic cancer SNP array 17952125 chr6 56927436 57262730 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 56927732 57000097 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 56927732 57000097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 56928047 57000099 Gain and loss Pancreatic cancer SNP array 17952125 chr6 56929282 57247093 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 56948361 56948861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 56977289 56977557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57000000 70000000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr6 57006447 57006506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57019343 57027951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 57019343 57027951 Gain and loss Pancreatic cancer SNP array 17952125 chr6 57019343 57027951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57019780 57062509 Loss Autism Exome sequencing and CGH 22495309 chr6 57021031 57060589 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 57027703 57035104 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr6 57062787 57143057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 57062787 57143057 Gain and loss Pancreatic cancer SNP array 17952125 chr6 57062787 57143057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57074809 57074909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57074830 57074974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57075452 57110519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57091948 58835468 LOH Normal - 20944671 chr6 57145083 57157692 Gain and loss Pancreatic cancer SNP array 17952125 chr6 57145083 57157692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57161540 57195060 Gain or loss Breast cancer - 20668451 chr6 57161540 57195060 Gain or loss Cancer - 20668451 chr6 57161540 57195060 Gain or loss Lung cancer - 20668451 chr6 57161540 57195060 Gain or loss Ovarian cancer - 20668451 chr6 57161540 57195060 Gain or loss Pancreas cancer - 20668451 chr6 57161540 57195060 Gain or loss Prostate cancer - 20668451 chr6 57161540 57195060 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 57161543 57195037 Gain and loss Pancreatic cancer SNP array 17952125 chr6 57161566 57195037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 57161566 57195037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57200000 58400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 57200000 58400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 57226594 57226693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57274430 58835794 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-519K arrays 21546498 chr6 57287562 57621334 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 57287562 57621334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 57287562 57621334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57290374 57354928 Gain and loss Pancreatic cancer SNP array 17952125 chr6 57290380 57621335 Amplification Intellectual disability 100k SNP Array 21811512 chr6 57292500 57670563 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 57313251 57477000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 57316419 62935611 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 57322144 57468514 Copy number Lung cancer paired-end sequencing 18438408 chr6 5732297 8667148 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 57327061 57663761 Copy number Lung cancer paired-end sequencing 18438408 chr6 5733578 5733931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57346120 57346219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57347057 57347363 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57386152 57386252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57391101 57399200 Deletion Glioma mate-paired sequence 20126413 chr6 57392871 57397309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57392871 57397313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57403101 57411300 Deletion Glioma mate-paired sequence 20126413 chr6 57403397 57403544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57403497 57403529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57405150 57409203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57409299 57409452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57444745 57444944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57444958 57445090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57444965 57445075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57457872 58401277 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr6 57459058 57459120 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 57462269 57462473 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 5746794 5746843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57477001 57531000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 57480247 57506276 Gain and loss Pancreatic cancer SNP array 17952125 chr6 57483458 57684971 Copy number Lung cancer paired-end sequencing 18438408 chr6 57489119 57504965 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57489824 57490057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57490465 57523885 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57495687 57528547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57496363 57529716 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57509329 57509509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57528817 57528910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 57529001 57539100 Deletion Glioma mate-paired sequence 20126413 chr6 57531028 57537079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57536001 57537000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 57537001 57637500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 57555501 57559400 Deletion Glioma mate-paired sequence 20126413 chr6 57566113 57585328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57575814 57576544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57584001 57588900 Deletion Glioma mate-paired sequence 20126413 chr6 57586108 57586814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5762653 5763598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57639601 57643200 Deletion Glioma mate-paired sequence 20126413 chr6 57642001 57654500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 57643779 58190898 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 57648647 57648709 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57654271 57654385 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57654501 57661000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 57661001 57675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 57661764 57661870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5766730 5811795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57675501 57705500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 57681874 79020306 Copy number Lung cancer paired-end sequencing 18438408 chr6 57689601 57700200 Deletion Glioma mate-paired sequence 20126413 chr6 57691632 57698224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57703789 57746879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57707494 57898278 Copy number Lung cancer paired-end sequencing 18438408 chr6 57710682 62578382 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-510K arrays 21546498 chr6 57712616 57743534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 57716131 57718485 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 57725062 57725180 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 57726640 57726838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 57729201 57737600 Deletion Glioma mate-paired sequence 20126413 chr6 57730820 57739182 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 5774204 5792478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57764248 58248389 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 57795146 57795835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57795170 57795671 Gain and loss Pancreatic cancer SNP array 17952125 chr6 57841688 57841783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5792712 23968000 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr6 57936568 62934236 Copy number Lung cancer paired-end sequencing 18438408 chr6 57948960 57950349 Gain and loss Pancreatic cancer SNP array 17952125 chr6 57949066 57950349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 57972657 147822754 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 58068710 58679624 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 58248259 58534011 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 58252170 58262904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 58256318 58262511 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 58264409 58264478 Gain and loss Pancreatic cancer SNP array 17952125 chr6 58264409 58264478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 58279892 58279948 Gain and loss Pancreatic cancer SNP array 17952125 chr6 58279892 58279948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 58294752 58298871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 58353001 58374000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 58354013 58395655 Gain and loss Pancreatic cancer SNP array 17952125 chr6 58354117 58395683 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr6 58358653 58395604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 58371694 58374340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 58372648 58373361 Gain and loss Pancreatic cancer SNP array 17952125 chr6 58398624 58835794 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 58401307 58699628 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr6 58401993 58402511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5843382 5843837 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 5843447 5843874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 58440820 58724642 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 58442668 58587658 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 58487275 58806957 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 58505956 58507411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 58511449 58538366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 58531691 58536763 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 58531808 58536826 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 58534011 58535028 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 58534011 58535028 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 58535028 58882675 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 58553872 58555266 Gain and loss Pancreatic cancer SNP array 17952125 chr6 58553978 58555266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 58634207 58634275 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 5863789 5864076 Gain and loss Pancreatic cancer SNP array 17952125 chr6 5863789 5864076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5863792 5864076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5869500 11661049 Amplification Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr6 58787359 58811000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr6 58795657 58795727 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 58860048 58870153 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr6 58880520 63175754 Amplification Lung cancer FISH 19547694 chr6 58881501 58884000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 58884001 60413000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 58884644 58887063 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 58886532 58887829 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 5917602 5919079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5917641 5919079 Gain and loss Pancreatic cancer SNP array 17952125 chr6 5935930 5936029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 5943234 5952632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 5943234 5952632 Gain and loss Pancreatic cancer SNP array 17952125 chr6 5943234 5952632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 5963612 5963707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 597308 626630 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 5978918 5979423 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 6006276 6006366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 600939 601944 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 600939 601944 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 600939 601944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 601108 601944 Gain and loss Pancreatic cancer SNP array 17952125 chr6 6013837 6014177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 6034586 6034770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 6034775 6034851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 6034780 6034939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 60413001 61955000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 60500000 170899992 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr6 60500000 170899992 Deletion Follicular lymphoma - 19010834 chr6 60500000 170899992 Deletion Non-small cell lung cancer Array comparative genomic hybridization 21044232 chr6 60500000 170899992 Deletion Normal - 20616218 chr6 60500000 170899992 Gain or loss Endometrial cancer CGH 22040021 chr6 60500000 170899992 Loss Breast cancer aCGH 21264507 chr6 60500000 170899992 Loss Breast cancer Array CGH 16608533 chr6 60500000 170899992 Loss Esophageal squamous carcinoma CGH 21637470 chr6 60500000 170899992 Loss Glioblastoma multiforme CGH 19960244 chr6 60500000 170899992 Loss Hepatocellular carcinoma CGH 22174799 chr6 60500000 170899992 Loss Non-small cell lung cancer - 21385341 chr6 60500000 170899992 Loss Phyllodes tumor CGH 17334353 chr6 60500000 63400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 6089310 6265923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 6089310 6265923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 6089317 6265901 Gain and loss Pancreatic cancer SNP array 17952125 chr6 6092841 6092941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 6093095 6093195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 61000000 142800000 Loss Gastric cancer 5K BAC array CGH 17908304 chr6 61000000 171115067 Copy number Prostate cancer Human Genome U133 Plus 2.0 arrays, Affymetrix GCOS software 16705090 chr6 61000000 171115067 Loss Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr6 61000000 171115067 Loss Basal cell lymphoma Array CGH 16317097 chr6 61000000 171115067 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr6 61000000 171115067 Loss Diffuse large b-cell lymphoma Array CGH 16317097 chr6 61000000 171115067 Loss Ependymoma CGH 16718352 chr6 61000000 171115067 Loss Gastric cancer 5K BAC array CGH 17908304 chr6 61000000 171115067 Loss High-proliferative meningiomas Array CGH 17937814 chr6 61000000 171115067 Loss Intracranial tumor References 16823260 chr6 61000000 171115067 Loss Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 chr6 6109017 6141963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 611378 612822 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr6 614081 615307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 61916591 68484603 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 61923686 66635426 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 61942860 62722877 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 62731390 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 62734399 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 62745243 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 63135380 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 63231507 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 63231880 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 63281842 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 63617232 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 63674367 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 63914559 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 63960351 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 64024175 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 64319453 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 64665394 LOH Normal High-resolution SNP genotyping 21211785 chr6 61942860 65445086 LOH Normal High-resolution SNP genotyping 21211785 chr6 61944387 62047226 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 61944387 62181309 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr6 61955001 61974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 61982878 61982978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62007078 62031195 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 62030184 62337696 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-531K arrays 21546498 chr6 62030184 62578382 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-513K arrays 21546498 chr6 62030184 63421826 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 62037165 62309129 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 62044538 62181309 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 62054362 62054775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 62072801 62079782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 62080207 64444019 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 62080207 64444019 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 62091095 62097321 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 6209126 6209226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62094591 62094654 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62103404 62103561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62111937 62112257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62114729 62114841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 62122152 62281216 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 chr6 62170559 62298819 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 62170559 62298944 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 6222340 6222601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62236747 62977374 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 62236780 62346052 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 62238053 62239568 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62258229 62264338 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62264215 62292484 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 62264215 62299849 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 62264215 62300086 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 62264227 62310836 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 62264666 62298589 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 62266960 62268374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62268842 62268942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62278668 62281216 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr6 62335171 64390812 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 62336842 62336917 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 62347657 62347790 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62410794 62410885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62447824 63054091 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr6 62447824 63054091 Gain and loss Pancreatic cancer SNP array 17952125 chr6 62447826 63054091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 62464401 62464486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62518410 62518480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 625275 625335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62578106 62578190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62605977 63942742 LOH Normal High-resolution SNP genotyping 21211785 chr6 62605977 64718353 LOH Normal High-resolution SNP genotyping 21211785 chr6 62605977 64732485 LOH Normal High-resolution SNP genotyping 21211785 chr6 6260682 6260797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62625852 168197564 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr6 62630766 62630838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62734399 62984044 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 62734399 62984044 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 62822404 62822504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62822463 62822543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62850325 62850425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62910715 62910861 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 62920768 65608625 LOH Normal High-resolution SNP genotyping 21211785 chr6 6292313 6292613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 62940543 63589359 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 62949268 64084668 Copy number Lung cancer paired-end sequencing 18438408 chr6 62975175 62975275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 62982682 62986171 Loss Normal 244K array 17666407 chr6 63081264 63081364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 63132356 63132453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 63157015 63157115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 63192540 63192630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 63228804 63229367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 63235123 63945116 LOH Normal High-resolution SNP genotyping 21211785 chr6 63255006 65243766 Amplification Cancer Affymetrix 250K Sty array 20164920 chr6 63315289 63316136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 63368002 63368207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 63400000 99500000 Loss Prostate cancer Array CGH 16573809 chr6 63400001 68250002 Loss Ovarian cancer QPCR 19835627 chr6 63416530 63643099 Indels Normal Affymetrix and Illumina arrays 20811451 chr6 63430000 63700000 Gain Acute lymphoblastic leukemia - 21339820 chr6 63435000 64586000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr6 63451042 63451132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 63463275 63839648 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 63500000 130400000 Gain Glioblastoma multiforme aCGH 21080181 chr6 63500000 135200000 Loss Glioblastoma multiforme conventional CGH 21080181 chr6 63500000 170899992 Copy number Breast cancer BAC array 16272173 chr6 63500000 170899992 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chr6 63500000 70000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 63500000 70000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 63500000 70000000 Loss Cancer array-based techniques 21183584 chr6 63500000 70000000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 chr6 63500000 75900000 Gain Malignant fibrous histiocytomas aCGH 21085701 chr6 63572152 73736298 Loss Developmental delay affymetrix genechip 500K/SNP 6.26 array 21147756 chr6 63595527 63649203 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 63621626 63623977 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 63640227 63644741 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 63654459 91864563 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 63654980 63657544 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 63655594 63656938 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 63723496 63723563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 63725583 63725655 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 63764581 64043848 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 63791668 63836475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 63809731 63842841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 63828019 65226205 LOH Normal High-resolution SNP genotyping 21211785 chr6 63873388 63873426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 63945116 64693742 LOH Normal High-resolution SNP genotyping 21211785 chr6 63960922 63961495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 63977316 64014338 Loss Normal 244K array 17666407 chr6 63979310 63980888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 63979310 63980888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 63979421 63979747 Gain and loss Pancreatic cancer SNP array 17952125 chr6 63995347 63995596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 63996001 63998500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 63996977 63997975 Gain and loss Pancreatic cancer SNP array 17952125 chr6 63997120 63998200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64014487 65310786 LOH Normal High-resolution SNP genotyping 21211785 chr6 64030507 64030597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 64047521 64087841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 64047521 64087841 Gain and loss Pancreatic cancer SNP array 17952125 chr6 64047521 64087841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 6406486 6406586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 64084167 65338218 LOH Normal High-resolution SNP genotyping 21211785 chr6 64102501 64211018 Copy number Lung cancer paired-end sequencing 18438408 chr6 64160086 64160470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64162871 64164970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64208630 64211444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64209193 65310786 LOH Normal High-resolution SNP genotyping 21211785 chr6 64227434 79016106 Copy number Lung cancer paired-end sequencing 18438408 chr6 64228424 67314424 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr6 64247998 64248294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64247998 64249742 Gain and loss Pancreatic cancer SNP array 17952125 chr6 64287483 137498692 Loss Prostate cancer Array CGH 18632612 chr6 64316572 64317378 Gain and loss Pancreatic cancer SNP array 17952125 chr6 64316572 64317378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 6433021 6433121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 64332602 64332702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 64339879 64351447 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 64339879 64351447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 64339879 64351447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64340379 64351244 Gain and loss Pancreatic cancer SNP array 17952125 chr6 64344564 64344661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 64383691 64384231 Gain and loss Pancreatic cancer SNP array 17952125 chr6 64383691 64384264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64389733 64389788 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 64403700 64483336 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 64403700 64483336 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 64403700 64483336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64403981 64482364 Gain and loss Pancreatic cancer SNP array 17952125 chr6 64409318 66051700 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 64414389 64482364 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr6 64488451 64489650 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 64488451 64489650 Gain and loss Pancreatic cancer SNP array 17952125 chr6 64488451 64489650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64521552 64521652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 64530281 64632210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 64530281 64632210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64565041 64565883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64625293 64625621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64637183 65492346 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 6472423 6472518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 64724967 64726305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 64724969 64726239 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 64725166 64727377 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 64725166 64727377 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 64740209 68022441 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 64780592 69721192 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 6479929 6480863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 64811741 65344029 LOH Normal High-resolution SNP genotyping 21211785 chr6 64839451 64839598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 64845289 64981515 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 64897092 64897143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 6492486 6666712 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 64931854 64931954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65000000 88900000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr6 65030000 66090000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 chr6 65032931 65385469 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 65040476 65069520 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 65051371 65075481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 65056229 65070244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 65057156 65070557 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 65058819 65082479 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 65064381 65064474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 6507037 62519883 Deletion Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V5 BeadChip 22016809 chr6 65072359 65072450 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 65074130 65145208 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr6 6509539 6536677 Gain and loss Pancreatic cancer SNP array 17952125 chr6 65179840 66364033 Deletion Dyslexia Array CGH 22102821 chr6 65200000 117100000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr6 65200000 130400000 Amplification Urothelial carcinoma CGH and FISH 18382360 chr6 65200000 130400000 Deletion Biliary cancer Array CGH 19435499 chr6 65200000 130400000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 chr6 65200000 130400000 Loss Diffuse large b-cell lymphoma QMPSF assay 18287131 chr6 65200000 130400000 Loss Hepatocellular carcinoma Array CGH 16750200 chr6 65227368 65227400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65229012 65229112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65241874 65242187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 65314945 65999549 Gain or loss Breast cancer - 20668451 chr6 65314945 65999549 Gain or loss Cancer - 20668451 chr6 65314945 65999549 Gain or loss Lung cancer - 20668451 chr6 65314945 65999549 Gain or loss Ovarian cancer - 20668451 chr6 65314945 65999549 Gain or loss Pancreas cancer - 20668451 chr6 65314945 65999549 Gain or loss Prostate cancer - 20668451 chr6 6533340 6600215 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 6533340 6600215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 6533340 6600215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 6533934 6600213 Gain and loss Pancreatic cancer SNP array 17952125 chr6 6534843 6534943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65359745 65392891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65374549 66060785 LOH Normal High-resolution SNP genotyping 21211785 chr6 65384020 65392891 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 65384032 65392859 Gain and loss Pancreatic cancer SNP array 17952125 chr6 65397819 65398296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65402846 65406748 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr6 65402846 65406748 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 65463666 65614799 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 65467092 65467180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65474616 65519877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 65475826 65476004 Loss Normal 244K array 17666407 chr6 65499813 65500451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 65499813 65500451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65541824 65541924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65558840 65558940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65579997 65589548 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 65579997 65589548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65590613 65868726 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 65600819 65840071 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chr6 65600819 65840071 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 65616097 65616197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65653312 65669112 Gain and loss Pancreatic cancer SNP array 17952125 chr6 65653312 65679356 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 65653312 65679356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65695307 65695407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65722586 66277665 LOH Normal High-resolution SNP genotyping 21211785 chr6 65741007 65741106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65754214 170792391 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 65764193 65764315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 65764193 65764315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65767727 65772433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 65768120 65770513 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 65768574 65775127 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 65771073 65771147 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 65771073 65771147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65788287 65908614 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 65824229 65824339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 65824229 65824339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 65824676 65826556 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 65825048 65825497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 65826410 65826485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 65881300 66751626 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 65913525 66058470 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 65927462 65927559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 65966779 65967384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 65971464 65971647 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 65975068 65975158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66048904 66049004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66062372 66069625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 66062478 66062732 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 66065000 66094339 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr6 66067065 66067165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66068126 66071592 Gain and loss Pancreatic cancer SNP array 17952125 chr6 66069136 66071661 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 66069136 66071661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 66069136 66071661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 66095891 66473839 Copy number Lung cancer - 20668451 chr6 66095891 66473839 Deletion Retinitis pigmentosa MLPA 21519034 chr6 66095891 66473839 Gain or loss Breast cancer - 20668451 chr6 66095891 66473839 Gain or loss Cancer - 20668451 chr6 66095891 66473839 Gain or loss Lung cancer - 20668451 chr6 66095891 66473839 Gain or loss Ovarian cancer - 20668451 chr6 66095891 66473839 Gain or loss Pancreas cancer - 20668451 chr6 66095891 66473839 Gain or loss Prostate cancer - 20668451 chr6 66095895 66473839 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 66095895 66473839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 66101527 66262615 Gain and loss Pancreatic cancer SNP array 17952125 chr6 66106715 67105071 LOH Normal High-resolution SNP genotyping 21211785 chr6 66127695 66141590 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 66139821 66177793 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 66139821 66177924 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 66161367 71172893 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 66163770 66163884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66163974 66164127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66183782 66185973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 66184085 66390420 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-546K arrays 21546498 chr6 66314701 66320500 Deletion Glioma mate-paired sequence 20126413 chr6 66345490 66345579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66390616 66390711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66427073 66450811 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 66427073 66470544 Copy number Normal Birdsuite, version 1.5.2 22087296 chr6 66430939 66474981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 66441604 66441660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66443094 66493678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 66450069 66568114 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 66450698 66471698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 66450811 66456203 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 66455767 66461407 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 66456203 66456258 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 66456258 66460573 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 66456258 66460573 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 66459437 66461414 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 66460573 66463931 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 66476048 66476198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66555031 66555901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 66555031 66555901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 66578649 66640401 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 66603156 66629333 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 66603544 66604674 Gain and loss Pancreatic cancer SNP array 17952125 chr6 66603565 66604668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 66603565 66604668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 6660433 6660533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66642417 66642517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66651758 66652551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 66815953 66816119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 66831711 66831800 Gain and loss Pancreatic cancer SNP array 17952125 chr6 66831711 66831815 Gain and loss Pancreatic cancer SNP array 17952125 chr6 66831711 66831815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 66860045 66861523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 66931667 67613062 LOH Normal High-resolution SNP genotyping 21211785 chr6 67055728 67055827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67056173 67448921 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 67064983 67090524 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 67064983 67097634 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 67064983 67107911 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 67064984 67099955 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 67065247 67105664 Loss or gain Normal 244K array 17666407 chr6 67065450 67105637 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 67065532 67105350 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 67065744 67107911 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 67068322 67105350 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 67069611 67105071 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 67069611 67105071 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 67074239 67105071 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 67075448 67105019 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr6 67095701 67101800 Deletion Glioma mate-paired sequence 20126413 chr6 67097522 67099891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 67097624 67099975 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 67097634 67099913 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 67097634 67099913 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 67099913 67101187 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 67105071 68829662 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 67118546 67118630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67123094 67123194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67126039 67126113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 67140846 67141482 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 chr6 67167734 67168091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 67188761 67188861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67219039 67219139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67220088 67220188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67283386 68356696 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-533K arrays 21546498 chr6 67291984 67292326 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 67311345 67311439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67391945 67395314 Duplication Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 chr6 67392471 67407731 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 6740080 6740634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 67436154 67436254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67439946 67484830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 67487511 67489891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 67495455 67495519 Gain and loss Pancreatic cancer SNP array 17952125 chr6 67569490 170899992 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr6 67589629 67589729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67633130 69333130 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 67633378 68871086 LOH Normal High-resolution SNP genotyping 21211785 chr6 67708102 67708202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67717494 67717526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67819083 67851545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 67823291 67823391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67825168 67832002 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 67830888 67842385 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 67842385 67844729 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 67844729 67861414 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 67884957 67885057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 67903872 67916211 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 67916123 67916213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 67922773 67923088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 67977022 67977094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 68028369 68030886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 68029809 68029909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68158253 68168887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 68198578 68199196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 68213162 68355095 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 68218149 72226093 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 6821930 8054930 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 68233831 68233920 Gain and loss Pancreatic cancer SNP array 17952125 chr6 68233831 68233920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 68279760 68280034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 68311201 68311301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68311296 68311535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68311318 68311418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68313258 68313368 Gain and loss Pancreatic cancer SNP array 17952125 chr6 68313265 68313368 Gain and loss Pancreatic cancer SNP array 17952125 chr6 68313265 68313368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 68313879 68314067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68313959 68314059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68314048 68314148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68314061 68314259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68326970 68327023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68339261 68368016 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 68339264 68370770 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 68362387 68381157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 68391970 68392076 Gain and loss Pancreatic cancer SNP array 17952125 chr6 68391970 68392078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 68409944 68410228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 68443464 68477275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 68451693 68451793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68484603 75081677 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 68502289 68502444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68502429 68502663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68520122 75459230 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 68537723 68712778 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 68556326 68556413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 68598575 68598645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 68641512 68641602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 6883834 6884129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 6883839 6884129 Gain and loss Pancreatic cancer SNP array 17952125 chr6 6883839 6884129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 6886307 6918735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 68891708 70868919 LOH Normal High-resolution SNP genotyping 21211785 chr6 6898601 6899513 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 68986915 68986956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69039990 69064577 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 69042283 69068886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 69072583 69074646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 69195309 69196111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 69198886 69199828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 69222820 69222889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 6922858 6967558 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 6923860 11379978 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 69298838 69299172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 69323189 69323289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69364817 69365006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 69400000 130400000 Loss Non-small cell lung cancer - 21385341 chr6 69401980 70156124 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 69401980 70156124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 69402352 70156124 Copy number Lung cancer - 20668451 chr6 69402352 70156124 Gain or loss Breast cancer - 20668451 chr6 69402352 70156124 Gain or loss Cancer - 20668451 chr6 69402352 70156124 Gain or loss Lung cancer - 20668451 chr6 69402352 70156124 Gain or loss Ovarian cancer - 20668451 chr6 69402352 70156124 Gain or loss Pancreas cancer - 20668451 chr6 69402352 70156124 Gain or loss Prostate cancer - 20668451 chr6 69403244 70557244 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr6 69405289 70156120 Gain and loss Pancreatic cancer SNP array 17952125 chr6 69431671 69431858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 69431782 69431858 Gain and loss Pancreatic cancer SNP array 17952125 chr6 69431782 69431858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 69471253 69471338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69496207 70275425 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 69527917 69528441 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 69536551 69536651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69543266 69543457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69543464 69543677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69543697 69543902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69618068 69618168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69631844 69637795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 69652213 69655072 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 6965843 6965918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69721965 69722053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69727422 69758081 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 69733067 85127568 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr6 69744407 69748441 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 69764019 69764119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69800000 139100000 Deletion Normal - 21541734 chr6 69814804 69814804 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr6 69839149 69839181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 69926844 69959001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 69927441 69953972 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 69951445 69951545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70000000 100600000 Loss Breast cancer Microarray-based CGH 17133270 chr6 70000000 114600000 Loss Leukemia RQ-PCR 18688285 chr6 70000000 130300000 Loss Prostate cancer Affymetrix 250K SNP array 19242612 chr6 70000000 170899992 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr6 70000000 75900000 Amplification Hepatocellular carcinoma Array CGH 16750200 chr6 70000000 75900000 Amplification Ovarian cancer Real-Time PCR 17437010 chr6 70000000 75900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 70000000 75900000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr6 70000000 75900000 Duplication Mental retardation array CGH 17124404 chr6 70000000 75900000 Gain and amplification Multiple myeloma Array CGH 16616336 chr6 70000000 75900000 Gain Chondromyxoid Fibroma Array CGH 20696777 chr6 70000000 75900000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr6 70000000 93100000 Loss Follicular lymphoma Affymetrix 50K-XbaI oligonucleotide SNP chip 17699855 chr6 7000000 10600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 7000000 10600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr6 7000000 13500000 Gain Cancer array-based techniques 21183584 chr6 70070832 70075107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 70078828 70078928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70114022 70114122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70169064 70169214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70199001 70200500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 70201002 70201102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70212880 70257523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 70242690 70785393 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 70247407 70248981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 70327734 70327896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70382241 70382341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70442419 70563609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 70442419 70563609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 70442469 70563609 Copy number Gastric cancer Human cDNA microarrays 17229543 chr6 70442472 70563609 Gain and loss Pancreatic cancer SNP array 17952125 chr6 70471900 70472773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 70505168 70514498 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 70512484 70513464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 70516457 70516656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 7052562 7053218 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 7052562 7053218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7052562 7053218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7052764 7052835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7052829 7197212 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr6 7052829 7197212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7052829 7197212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7056048 7121484 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr6 70633169 70978878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 70633169 70978878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 70633169 70978881 Gain and loss Pancreatic cancer SNP array 17952125 chr6 70673556 70673651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70728329 70728429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70765729 70765797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70776941 70783015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 70785908 70785993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70797643 70797743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70836694 70836794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7084477 7196194 Gain and loss Pancreatic cancer SNP array 17952125 chr6 70865002 70865289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 70877986 70878054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70880487 70880587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70904349 70904397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70913299 70913933 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 70958875 70958975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 70982529 71069494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 70982529 71069494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 70982948 71069494 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7100000 10600000 Amplification Hepatocellular carcinoma FISH 16785998 chr6 7100000 13400000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 chr6 7100000 15200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr6 7100000 30400000 Gain Breast cancer Microarray-based CGH 17133270 chr6 71001760 71001910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71005657 71605657 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 71006000 80606000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 71032820 71706893 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 7108187 7251692 Gain Spitz naevi FISH 22211292 chr6 71113383 71113480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 711764 711847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 711774 29563658 Gain or loss Breast cancer - 20668451 chr6 711774 29563658 Gain or loss Cancer - 20668451 chr6 711774 29563658 Gain or loss Lung cancer - 20668451 chr6 711774 29563658 Gain or loss Ovarian cancer - 20668451 chr6 711774 29563658 Gain or loss Pancreas cancer - 20668451 chr6 711774 29563658 Gain or loss Prostate cancer - 20668451 chr6 71179828 71327596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 71179828 71327596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71192895 71327596 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71194681 71194781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71196895 71197895 Loss Osteosarcoma References 21215367 chr6 71233346 71234346 Loss Osteosarcoma References 21215367 chr6 71279717 71279780 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71285183 71285238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7132814 7132918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7132816 7132921 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7132821 7132921 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71333341 71355987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 71333341 71355987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71333345 71355327 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 71333346 71355327 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71375486 71375758 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71375486 71375758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71380129 71380229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71390042 71390951 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 7140008 7157743 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 71402771 72666174 LOH Normal High-resolution SNP genotyping 21211785 chr6 71402771 73322951 LOH Normal High-resolution SNP genotyping 21211785 chr6 71429926 71430703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71434200 71628435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 71434200 71628435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71434297 71628435 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7146913 7146977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71487794 71488104 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71501009 71501387 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71501096 71501387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71507940 71508376 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71533470 71536208 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71536281 71537293 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71552557 71553262 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71556566 71565478 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr6 71594336 71594436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71623637 71723462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 71623637 71723462 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71623637 71723462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71624676 71624959 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 71665937 73187575 LOH Normal High-resolution SNP genotyping 21211785 chr6 71665937 73189947 LOH Normal High-resolution SNP genotyping 21211785 chr6 71668944 73189947 LOH Normal High-resolution SNP genotyping 21211785 chr6 71670649 73189947 LOH Normal High-resolution SNP genotyping 21211785 chr6 71689103 71689552 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 71722001 71724000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 71729100 71729248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7174001 7214500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 71795203 71795402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 71816967 71817067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71841988 71842799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 718628 719802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 71893317 71893529 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71893317 71893529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71893318 71893529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71896817 71896917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71929766 71929866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71931500 71932194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 71931500 71932194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71940984 71941084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 71949036 71949142 Gain and loss Pancreatic cancer SNP array 17952125 chr6 71949036 71949142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 71981794 72013657 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 71988765 73944382 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr6 71989993 72962342 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 71990119 71990187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 72031824 72033918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 7203351 7203441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72040113 72040213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72055232 72068672 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72055239 72068985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 72055239 72068985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72073023 73495293 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 72084875 72084907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72088713 72088793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72104971 81732110 Loss Developmental delay affymetrix genechip 500K/SNP 6.27 array 21147756 chr6 72106993 72107093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72141263 72148366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72143379 72143462 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72143384 72143455 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72143384 72143455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72147333 72169445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 72163343 73052051 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 72169975 72170045 Amplification Acute myeloid leukemia BAC aCGH 20962326 chr6 72169975 72170045 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72169975 72170045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72180870 72187169 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72201001 72201101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72235486 72235556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72254223 72254369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72254374 72254558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72256440 72263101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 72305308 72305400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72317382 72318067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7232803 7258434 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7232803 7258439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7232803 7258439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7232868 7232963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72334436 72334475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72351145 72352330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72351513 72351625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72378682 72783765 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 72405822 72405922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72418895 72419035 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72418898 72419035 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72418898 72419035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72426595 72459842 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 72465962 73185347 LOH Normal High-resolution SNP genotyping 21211785 chr6 724944 2142196 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 72580293 72580498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72580481 72580685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72628150 72628470 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 72642188 72642265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 72653127 73169229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 72653127 73169229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72653448 73167137 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72669177 72669277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 72711662 72720457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 7271886 7334941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7271886 7334941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7271888 7334638 Gain and loss Pancreatic cancer SNP array 17952125 chr6 72723883 72724350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 72753366 72753600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7276518 7276908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72799773 76341409 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-518K arrays 21546498 chr6 72830005 72837204 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 7284071 7284800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72847084 72857274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 72854234 72873361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 7286086 7287288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 72917793 72944916 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 72918775 72933587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 72919301 72932200 Deletion Glioma mate-paired sequence 20126413 chr6 72919972 72931679 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 72920572 72930259 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 72920573 72930255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 72920581 72931239 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 72986878 73533610 LOH Normal High-resolution SNP genotyping 21211785 chr6 72991239 73948155 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 73083023 73083860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 73124460 73124516 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 73161511 73197013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 73161965 73162065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 73208759 73208875 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 7324659 7324749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7324981 7325071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 73289064 73289661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 73300000 139100000 Deletion Biliary cancer Array CGH 19435499 chr6 73300000 139100000 Gain Glioma Affymetrix 6.0 SNP array 21046410 chr6 73300000 139100000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 73300000 149100000 Copy number Zellweger syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr6 73300000 160900000 Loss Follicular lymphoma aCGH 20505157 chr6 73300000 170899992 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 chr6 73300000 170899992 Deletion Malignant melanoma quantitative Fluorescence in Situ Hybridization (FISH) 18718029 chr6 73300000 170899992 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr6 73305004 73305091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7332275 7332375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 73330124 73330165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7335061 7363267 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7335061 7363269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7335061 7363269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 73364900 73366083 Gain and loss Pancreatic cancer SNP array 17952125 chr6 73364900 73366083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7338649 7338719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 73388241 73965295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 73388241 73965295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 73388639 73961858 Gain and loss Pancreatic cancer SNP array 17952125 chr6 73410922 73411022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7341960 7342041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 73434381 73434413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 73445011 73902596 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 73592566 74835212 LOH Normal High-resolution SNP genotyping 21211785 chr6 73616917 73628301 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr6 73663308 73663373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 73708111 73708170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 73752757 73754194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 73821541 73822301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 73821766 73822295 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7387235 7388507 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 73923961 73924583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 73975314 74076809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 73975314 74076809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 73977423 74009842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 73980275 73980365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 73990192 74029628 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74037748 76258305 LOH Normal High-resolution SNP genotyping 21211785 chr6 74056847 74057706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74058406 74059721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74058406 74059721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74089281 74089894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74090863 74090919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 74093968 74095461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74119508 74120674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74119508 74120674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74129121 74130615 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74129121 74130615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74134997 74161537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74134997 74161537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74139552 74139707 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74139552 74139707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74157482 74158211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74160358 74160457 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74160358 74160457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74161192 74183791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74161192 74183791 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74161192 74183791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74166190 76397642 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 74175000 83775000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 74179959 74218720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74179959 74218720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74180226 74456183 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr6 74191544 74218720 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74212874 74213199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74228190 74267882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74228190 74267882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74228209 74267539 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74230517 74230621 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74230521 74230621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74242364 74242524 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74242364 74242524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74254034 74254321 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74254034 74254321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74254036 74254321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7426332 7427826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7427127 7427826 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74278716 74323809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 74282188 74287476 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74282193 134886356 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr6 74282194 74288344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74282194 74288344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74286501 74288000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 74288983 74289090 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74293188 74293323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74336804 75375588 LOH Normal High-resolution SNP genotyping 21211785 chr6 74359823 74420458 Copy number Autism exome sequencing 22495311 chr6 74359824 74420418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74359824 74420418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74359824 74420778 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74384790 74385041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74395913 74507950 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr6 74436452 74438679 Loss Normal 244K array 17666407 chr6 74462235 74594761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 74462235 74594761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74462548 74591509 Gain and loss Pancreatic cancer SNP array 17952125 chr6 74477975 74478280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74492099 74492199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7449371 7486143 Loss Normal 244K array 17666407 chr6 74504618 74504846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 74504744 74504847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 74505121 74505221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7451435 7451781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7461727 7462110 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7461727 7462110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74618389 74618536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74627756 75128653 LOH Normal High-resolution SNP genotyping 21211785 chr6 74629308 74629359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 74630950 74636534 Loss Normal 244K array 17666407 chr6 74645033 75546761 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 74646801 74660800 Deletion Glioma mate-paired sequence 20126413 chr6 74646855 74669237 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 74647549 74660548 Deletion Normal TaqMan assays 20972442 chr6 74648575 74660270 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 74648575 74660270 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 74648789 74657144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74648789 74659167 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74648791 74659169 Copy number Pancreatic cancer Affymetrix Genome-Wide Human SNP Array 22016467 chr6 74648953 74658138 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 74649045 74655248 Loss Normal 244K array 17666407 chr6 74661933 74699905 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 74664714 74679637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 74670325 74677127 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74704778 74704874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 74711025 74711125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 74766429 74773741 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 74770956 74771248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7486869 7531803 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7486869 7531945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7486869 7531945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7487001 7488500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 74889213 74890606 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 74889220 74890171 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 74889224 74890179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74906419 74906533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74917535 74917620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 74920201 74925100 Deletion Glioma mate-paired sequence 20126413 chr6 74922154 74923304 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 74989443 74989785 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 75016060 123465414 Loss Prostate cancer Array CGH 18632612 chr6 75016100 92151400 Loss Prostate cancer Array CGH 18632612 chr6 75018716 75184885 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 75029906 75030171 Gain Normal 244K array 17666407 chr6 75031290 75031470 Gain Normal 244K array 17666407 chr6 75035581 76259717 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 chr6 75039001 75039041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75039602 75042279 Gain Normal 244K array 17666407 chr6 75048702 75049096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 75083988 76771551 LOH Normal High-resolution SNP genotyping 21211785 chr6 7512348 7545333 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 75317647 75317747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75336440 75336540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7535431 7557092 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7535431 7557199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7535431 7557199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 75376885 75377151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 754373 788302 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 75454384 75454479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75459230 81370322 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 7546248 7548030 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 75474400 75474500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7548683 7593784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 7551460 7585171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 75555615 75555715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75600547 75600850 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 75615513 75616920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 75617076 75617129 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 75621405 75621505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75633292 75633380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 756536 756595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7565654 7566110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7565655 7566116 Gain and loss Pancreatic cancer SNP array 17952125 chr6 75661262 75661340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75669359 75701604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 757136 794087 Gain Autism qPCR 20531469 chr6 75745537 76397642 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 75763994 75764084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75770508 75770608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75778814 75778914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75787596 75787659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75824838 75824938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75850760 75972290 Gain and loss Pancreatic cancer SNP array 17952125 chr6 75850761 75972343 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 75850762 75972343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 75850762 75972343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 75897123 75897223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75900000 105500000 Deletion Prostate cancer Affymetrix 50K SNP mapping array 17245344 chr6 75900000 105500000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr6 75900000 139100000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 chr6 75900000 170899992 Loss Acute lymphoblastic leukemia array CGH 17690704 chr6 75900000 83900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 75900000 83900000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr6 75900000 83900000 Deletion Lung cancer Relied on a multipoint score function 16773561 chr6 75900000 83900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 75900000 83900000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr6 75900000 83900000 Loss Urothelial cell carcinoma FISH 18451213 chr6 75900000 87500000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 75900000 88000000 Loss Prostate cancer Array CGH 16461572 chr6 75900000 92100000 Deletion learning difficulties aCGH 21045960 chr6 75900000 92100000 Deletion Mental retardation aCGH 21045960 chr6 75900000 92100000 Deletion Obesity aCGH 21045960 chr6 75949358 75949453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 75971001 75974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 75994929 75994999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 76004111 76023212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76004223 76025713 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76014504 76014822 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 76019357 76051074 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr6 76019369 76051221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 76019369 76051221 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76019369 76051221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7602010 7602110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 76043570 76043670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 76062346 76260216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 76062346 76260216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76074522 76260216 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76085537 76086416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76101365 76101465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 76110415 76110535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 76165296 76165503 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76165296 76165503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76165297 76165503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7618780 7618874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 76231559 76232006 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 76231559 76232006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76240174 76240330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76240175 76240317 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76240175 76240325 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76248207 76248342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 76262682 76275036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 76266141 76266572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76352556 76352934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76359491 76359551 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76359491 76359551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76367945 76482901 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76368320 76484717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 76368320 76484717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76368341 76484714 Copy number Lung cancer - 20668451 chr6 76368341 76484714 Gain or loss Breast cancer - 20668451 chr6 76368341 76484714 Gain or loss Cancer - 20668451 chr6 76368341 76484714 Gain or loss Lung cancer - 20668451 chr6 76368341 76484714 Gain or loss Ovarian cancer - 20668451 chr6 76368341 76484714 Gain or loss Pancreas cancer - 20668451 chr6 76368341 76484714 Gain or loss Prostate cancer - 20668451 chr6 76377607 76378381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76421406 76421735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76421408 76421735 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76421497 76421735 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76515629 76685974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 76515629 76685974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76515703 76682665 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76517778 76517868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 76534496 76534595 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76534496 76534595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76568207 76568734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 76607923 76607923 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 chr6 76607923 76607923 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr6 7662367 7662701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 76630464 105342994 Deletion Cancer Affymetrix 250K Sty array 20164920 chr6 76631676 76631772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76631692 76631772 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76631692 76631772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76632401 76632501 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76632401 76632501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76687782 76839055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 76687782 76839055 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76687782 76839055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76694950 76695059 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76694950 76695060 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76694950 76695062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76699887 79785047 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 7670764 7671019 Loss Normal 244K array 17666407 chr6 7671001 7674000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 7671442 7674249 Gain Normal 244K array 17666407 chr6 7672009 7826749 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7672010 7826960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7672010 7826960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76723465 76755004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 76732698 76732798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 76803225 76803303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 76803670 77491961 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 76803795 76803931 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76803795 76803931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 76830186 107898353 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 chr6 76859271 76859377 Gain and loss Pancreatic cancer SNP array 17952125 chr6 76859271 76859377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7686614 7686885 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 76907082 76940974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 76910 89885 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 77005498 77252469 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-525K arrays 21546498 chr6 77042775 77042875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77067481 77091010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 77070264 77084014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 77070276 77073620 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 77071229 77084489 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 77073431 77085884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 77073608 77084014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 77073608 77084315 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 77073608 77084489 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 77073620 77073712 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 77073712 77073713 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 77073713 77084327 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 77073751 77084014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 77084327 77084501 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 77129651 77162927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 77141702 77165983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 77143737 77164604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 77152301 77161300 Deletion Glioma mate-paired sequence 20126413 chr6 77154212 77160412 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 77154213 77159360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 77154213 77159361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 77213425 77213515 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7726562 7727504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 77277260 77278353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 77287523 77287619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77323173 77323265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 77324089 77324190 Gain and loss Pancreatic cancer SNP array 17952125 chr6 77324089 77324192 Gain and loss Pancreatic cancer SNP array 17952125 chr6 77324150 77324246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77357780 77357953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77371900 77372000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77380000 82650000 Deletion Ductal carcinoma SNP array 22052326 chr6 77426922 77429206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 77429819 77429919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77485023 77525871 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 77493240 77517791 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 77493240 77524637 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 77494973 77517840 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 77495058 77514378 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 77495058 77514378 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 77496501 77510012 Loss Normal 244K array 17666407 chr6 77496587 77497656 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 77496587 77509523 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 77496587 77509523 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 77496587 77509523 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 77496587 77517792 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 77498434 77510033 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 77499917 77509392 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 77506190 77509469 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 77529770 77529870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77538588 77538688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77736444 77736476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77846585 77846735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77879068 77880035 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 77921813 77932471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 77976819 77977129 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 77980459 77980643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77980671 77980818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 77987409 78742395 LOH Normal High-resolution SNP genotyping 21211785 chr6 77990638 77990780 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 78026444 78610445 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 7806212 7806300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78064469 78097750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 78065877 78068690 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 78066685 78366842 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr6 78087681 78087781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78140221 78140321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78156739 78233520 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78178959 78179059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78198715 78339761 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78200000 139100000 Loss Glioblastoma multiforme aCGH 21080181 chr6 78223324 78778732 LOH Normal High-resolution SNP genotyping 21211785 chr6 7822545 7822636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78228641 78229900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 78228641 78229900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 78228666 78229839 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 78228667 78229839 Gain and loss Pancreatic cancer SNP array 17952125 chr6 78229001 78230500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 78262555 78263107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7826751 8009646 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7826753 8009646 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 7826753 8009646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 78284418 78284494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78319844 78319910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78334840 78421269 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 78364037 78364263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78364164 78364264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78364270 78364389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78393674 78637549 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78416569 78416769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78416805 78416938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78440570 78496793 Gain Normal 244K array 17666407 chr6 78457108 78689776 Gain and loss Pancreatic cancer SNP array 17952125 chr6 78457108 78689776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 78458215 78504979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 78470350 78503508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 78475161 78514359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 78484295 78486391 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7851319 7851374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 78531646 78532255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 7858094 7858194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78582905 78583161 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr6 78591955 78592000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78646441 78646541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78683521 78683621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78719635 79016785 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 78724373 78724473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78735363 78735463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78747128 78747228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78749599 78795480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 78776791 79426520 LOH Normal High-resolution SNP genotyping 21211785 chr6 78790503 78790587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7883662 7884554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 78843173 78843363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78852599 79156482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78852599 79250187 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78859681 78859781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7886180 7886229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78861975 78862066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 78898929 78906686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 78912873 78970927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 78913985 79103380 Copy number Normal Birdsuite, version 1.5.2 22087296 chr6 78916375 78960819 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 78936578 78955592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 78938170 78955234 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 78947195 79116378 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78947195 79156482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78947195 79156482 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78947195 79250187 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 78952360 79045444 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr6 79006540 79019596 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79013151 79106824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 79018772 79095952 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 79019012 79091892 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79019300 79091892 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79019581 79089299 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79019597 79089298 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 79019608 79089036 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 79019608 79091904 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 79019939 79094205 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 79021388 79094205 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 79023266 79091327 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 79023266 79094205 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 79023266 79094205 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 79023266 79094205 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 79023266 79097414 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 79023266 79099292 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 79023308 79093066 Deletion Non-syndromic sensorineural hearing loss 370K1,370K2,610K,Agilent24M 19587683 chr6 79023308 79093066 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 79023910 79093137 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 79024001 79028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 79024187 79093007 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 79024557 79091850 Deletion Cancer ultra-high resolution array CGH 21272361 chr6 79024586 79091879 Loss Normal 244K array 17666407 chr6 79025772 79089299 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79025772 79091892 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 79025772 79091892 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79025772 79091892 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79025772 79095953 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79025772 79098516 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79025784 79091904 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 79025784 79091904 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 79025784 79091904 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 79026968 79094205 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 79028488 79095953 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79028500 79091904 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 79028501 79048000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 79029649 79090197 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 chr6 79029649 79090197 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 610k 19587683 chr6 79029649 79090197 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr6 79029920 79088461 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr6 79031436 79092371 Copy number Lung cancer paired-end sequencing 18438408 chr6 79034744 79106021 Copy number Lung cancer paired-end sequencing 18438408 chr6 79035978 79095953 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 79048001 79050500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 79050501 79093000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 7906119 7906512 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 79062280 79062380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 79066688 79066798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 79074620 79074720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 79107334 146959104 Copy number Lung cancer paired-end sequencing 18438408 chr6 79116279 79156482 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 79121211 103836374 Copy number Lung cancer paired-end sequencing 18438408 chr6 7913987 7914098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 791776 793970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 791888 811168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 79254983 79923444 LOH Normal High-resolution SNP genotyping 21211785 chr6 79278474 170514911 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr6 79293505 79293924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 79303061 80290087 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 7931335 7935575 Gain and loss Pancreatic cancer SNP array 17952125 chr6 7931769 7933424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 79325534 89324095 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr6 79376780 79376880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7939205 7943199 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 79527461 80156596 LOH Normal High-resolution SNP genotyping 21211785 chr6 79553844 79594290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 79570343 79591289 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 79577724 79585226 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 79577781 79585293 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr6 79577803 79587404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 79633908 79665039 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 79633908 79665039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 79633968 79669537 Gain and loss Pancreatic cancer SNP array 17952125 chr6 79665663 79665726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 7967791 7968115 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 79686154 102715511 Loss Acute lymphoblastic leukemia Array CGH 17640729 chr6 79707008 79844708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 79707008 79844708 Gain and loss Pancreatic cancer SNP array 17952125 chr6 79707008 79844708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 79724729 79724801 Gain and loss Pancreatic cancer SNP array 17952125 chr6 79736160 79736584 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 79834128 79834574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 79844277 79846848 Gain and loss Pancreatic cancer SNP array 17952125 chr6 79862548 79862648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 79943264 79943349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 79949392 79949492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 79967683 80001174 Gain and loss Pancreatic cancer SNP array 17952125 chr6 79967685 80001125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 79967685 80001125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 7996771 7996874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80044541 80044863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80066237 80066315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80068399 80068502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80068401 80068502 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80068403 80068502 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80074315 80680574 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr6 80076951 80077484 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80093004 80093643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80095900 80870799 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 80120882 80121149 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80120882 80121149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80137142 80146655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 80137757 80145991 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 80140920 80142328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 80147733 80147833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80203344 80203603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 802170 802383 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 8024638 8047780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 8024638 8047780 Gain and loss Pancreatic cancer SNP array 17952125 chr6 8024638 8047780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80246601 80246674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8025127 80303844 Copy number Autism exome sequencing 22495311 chr6 80251427 80565440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 80251427 80565440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80251428 80303844 Gain and loss Pancreatic cancer SNP array 17952125 chr6 802730 802805 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 80321725 170899992 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-528K arrays 21546498 chr6 80356896 80356996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80371519 80402629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 80397719 80470088 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80397739 80470088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 80397739 80470088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80459201 80459301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80463393 80463468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80470282 82813877 LOH Normal High-resolution SNP genotyping 21211785 chr6 80492129 80492202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80500000 145700000 Loss Glioblastoma multiforme aCGH 21080181 chr6 80521080 80521180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80593229 80593321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80611300 80870799 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 80613852 80627142 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 80621120 80622068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 806299 821771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 80646396 80646496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80647028 80674359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 80649508 80735850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 80657033 80657113 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 80663439 80669465 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 80666626 80666696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 80681247 80714034 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 80681255 80713941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 80681255 80713941 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80681255 80713941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80693000 90293000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 806934 808679 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 80719441 80720444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80730651 80730955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80771076 80808958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 80771076 80808958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80771077 80808958 Copy number Lung cancer - 20668451 chr6 80771077 80808958 Gain or loss Breast cancer - 20668451 chr6 80771077 80808958 Gain or loss Cancer - 20668451 chr6 80771077 80808958 Gain or loss Lung cancer - 20668451 chr6 80771077 80808958 Gain or loss Ovarian cancer - 20668451 chr6 80771077 80808958 Gain or loss Pancreas cancer - 20668451 chr6 80771077 80808958 Gain or loss Prostate cancer - 20668451 chr6 80771078 80808956 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80772070 80808459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 80796620 80796705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 80830721 80834573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80830730 80832101 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80844165 80844798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80849121 80882859 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 80873063 81112706 Copy number Autism exome sequencing 22495311 chr6 80873083 81112706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 80873083 81112706 Gain and loss Pancreatic cancer SNP array 17952125 chr6 80873083 81112706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 80995947 82325472 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 81032747 81095131 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 8110840 8110940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81140451 81141005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 81148493 81148593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81163569 81163669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81167410 81167604 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 81170983 81171072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81171526 81171602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81236507 81236864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 81265632 81265828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 81293576 81293729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8129882 8667148 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 81300577 81300652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81313120 81313220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81322277 81323625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 81322277 81323625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 81332484 81334704 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 81334695 81351047 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr6 81334704 81340908 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 81337028 81350218 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 81337028 81350218 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 81337028 81350218 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 81337028 81350218 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 81340438 81350296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 81340896 81346266 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 chr6 81340908 81341150 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 81341150 81341357 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 81341357 81341677 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 81341677 81346253 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 81346253 81351133 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 81351133 81351822 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 81370322 81884330 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 81374322 82596952 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 81381081 81381259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81399852 81399952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81429155 81429226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81447257 82512898 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 81491440 81491474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81624356 81678026 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 81666479 81920618 Gain and loss Pancreatic cancer SNP array 17952125 chr6 81682688 81687382 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 81683411 81781996 Gain and loss Pancreatic cancer SNP array 17952125 chr6 81685060 81685851 Gain and loss Pancreatic cancer SNP array 17952125 chr6 81705925 81878449 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 8172923 8173240 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 81733477 81733577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 81772516 81773158 Gain and loss Pancreatic cancer SNP array 17952125 chr6 81870395 81891996 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 81884330 84882710 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 81908959 81909360 Gain and loss Pancreatic cancer SNP array 17952125 chr6 81969404 82014431 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 82018375 82018475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82023447 82023547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82086104 82090739 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 82100386 82100452 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 8210604 8210636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82110003 82110372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 82140347 82140447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82204345 82204444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82270440 82270540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82297540 82297698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82319026 82319256 Gain and loss Pancreatic cancer SNP array 17952125 chr6 823279 823565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 82361602 82361702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82369754 82369826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8238406 9237866 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 82388636 82388755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 82388637 82388720 Gain and loss Pancreatic cancer SNP array 17952125 chr6 8241673 8241752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82496548 83944214 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 82512166 82519210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 82512166 82519210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 82512167 82519126 Gain and loss Pancreatic cancer SNP array 17952125 chr6 82527622 82527722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82530460 82530592 Gain and loss Pancreatic cancer SNP array 17952125 chr6 82530460 82530592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 82530647 82530939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 82609001 82609101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8263959 8274816 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 82655873 82655908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82682388 82904927 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 82699543 83699543 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 82700000 145700000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 82700000 149100000 Deletion Chondromyxoid Fibroma Array CGH 20696777 chr6 82700000 149100000 Gain Cancer array-based techniques 21183584 chr6 82700000 149100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr6 82700000 160900000 Deletion Biliary cancer Array CGH 19435499 chr6 82700000 160900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr6 82700000 170899992 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr6 82712405 82712500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82715687 82715774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82723070 82723168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8274177 8318881 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 82764125 82764225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82769660 82769760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82794175 108657232 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 8282586 8285568 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 8282586 8285568 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 8282586 8287440 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 8282586 8287440 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 8282681 8286525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 8282918 8287440 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr6 8282918 8287440 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr6 82844359 82844391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 82910703 83411723 LOH Normal High-resolution SNP genotyping 21211785 chr6 82936675 83007156 Gain and loss Pancreatic cancer SNP array 17952125 chr6 82936675 83014190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 82936675 83014190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 8296403 8330501 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 82976774 82976872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 82976780 82976876 Gain and loss Pancreatic cancer SNP array 17952125 chr6 82976780 82976876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83005633 83028361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 83009915 83027888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 83018755 83030439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 83023075 83031829 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 83023590 83043434 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 83023799 83037376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 83025568 83033662 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 83030432 83031410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83032906 83032991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 83067548 83069717 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr6 83073837 83073921 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 83088471 84577774 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 83130258 83133333 Gain and loss Pancreatic cancer SNP array 17952125 chr6 83130258 83133333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 8313427 8314365 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 83195055 84966870 LOH Normal High-resolution SNP genotyping 21211785 chr6 83213944 83214044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 83247864 83247964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 83391655 83392800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 83437089 83437111 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr6 83529657 83529757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 83571829 83571914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8358306 8380624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 8358306 8380624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 8358306 8380793 Gain and loss Pancreatic cancer SNP array 17952125 chr6 83583941 83584041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 83658836 83832269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 83658836 83832269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83658905 83832264 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 83658908 83832269 Gain and loss Pancreatic cancer SNP array 17952125 chr6 83691465 83691560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83732794 83733106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 8373752 8373852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 83775736 83775836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 83834104 83934846 Gain and loss Pancreatic cancer SNP array 17952125 chr6 83834104 83934909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 83834104 83934909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83839411 83839573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83900000 84700000 Loss Non-small cell lung cancer - 21385341 chr6 83900000 87500000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 chr6 83935349 83959690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 83935349 83959690 Gain and loss Pancreatic cancer SNP array 17952125 chr6 83935349 83959690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83959817 83962975 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 83959817 83962975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83960750 83962969 Gain and loss Pancreatic cancer SNP array 17952125 chr6 83976827 84197498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 83976827 84197498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 83977976 84197392 Gain and loss Pancreatic cancer SNP array 17952125 chr6 84059775 84406257 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 84158544 84160059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 84158935 84159819 Gain and loss Pancreatic cancer SNP array 17952125 chr6 84235866 84235909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 84239682 84239719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 84275659 84275772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 84278990 84292138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 84278990 84292138 Gain and loss Pancreatic cancer SNP array 17952125 chr6 84278990 84292138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 84308454 84342860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 84319323 84475828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 84319323 84475828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 84319326 84475738 Gain and loss Pancreatic cancer SNP array 17952125 chr6 84349553 84349653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 84419644 84419744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 84474873 84474957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 84521385 84577774 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 84579279 84609348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 84598279 84598379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 84619704 84623953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 84619704 84623953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 84626089 84726863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 84626089 84726863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 84626125 84726862 Gain and loss Pancreatic cancer SNP array 17952125 chr6 84700000 87500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 84700000 87500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 84700000 87500000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr6 84729767 84732824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 8475577 8499668 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 84762867 84798376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 84800139 84857318 Gain and loss Pancreatic cancer SNP array 17952125 chr6 84800139 84857320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 84800139 84857320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 84802417 84824462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 84856885 85549019 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 84856885 86052655 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 84881737 84881837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 84882710 85910726 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 84890679 84994072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 84890679 84994072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 84890691 84982359 Gain and loss Pancreatic cancer SNP array 17952125 chr6 84906612 84906717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 84940630 84973416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 84969454 84977543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 84982009 84982103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85000000 90400000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr6 85002218 170792391 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 85015891 85033126 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 85033583 85033683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85054921 85055021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8509033 8509133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85196018 85197238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 85196313 85197238 Gain and loss Pancreatic cancer SNP array 17952125 chr6 85234837 85234937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85275259 106796313 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 85308350 85308450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85355534 85404633 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 85360033 85383778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 85366601 85406757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 85372538 85386849 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 85372901 85382800 Deletion Glioma mate-paired sequence 20126413 chr6 85374863 85380939 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 8537498 8664123 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 85411634 88478204 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 chr6 85453800 85530618 Gain and loss Pancreatic cancer SNP array 17952125 chr6 85453810 85530673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 85453810 85530673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 85455729 85455866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 85457791 86099472 LOH Normal High-resolution SNP genotyping 21211785 chr6 85513151 85513211 Gain and loss Pancreatic cancer SNP array 17952125 chr6 85513151 85513211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 85539501 85541500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 85604673 85604773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85620858 99926277 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr6 85670360 85670474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 85688389 85688489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85726725 85726825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85732017 85732117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85732834 85733062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 85734201 85767961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 85741690 85741750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 85751059 85751159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85828470 85828526 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 85838814 89867130 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 85846959 85847059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85910726 95648322 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 85922104 85934186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 85935813 85935913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 85936495 85936595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86023765 86024131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86023772 86024125 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86038815 86038915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86052513 86057286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86054163 86055450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86054184 86055416 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86083072 86083386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 86153116 86184836 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86161604 86161691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86193094 86193562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86193860 86194400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 86193860 86194400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86201018 86201351 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 86216528 86262215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 86216528 86262215 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86216528 86262215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86265244 86297670 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 86268209 88552969 LOH Normal High-resolution SNP genotyping 21211785 chr6 86271933 86360348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 86271933 86360348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86271942 86360348 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86353867 86353945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86359942 86404742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86360001 86361000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 86377707 86409746 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 86377708 86409746 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86379319 86409746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 86379319 86409746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86398874 86398974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86426329 86427043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86443521 86445157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 86443521 86445157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86443731 86443805 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86443731 86443805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86444026 86444095 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86444026 86444095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86460169 86460246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86489649 90950621 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr6 86497808 86498448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86501644 86502505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86502181 86502357 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86505041 86505141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86518018 86518090 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86518018 86518138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86518018 86518190 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86535456 86742793 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 86544076 86544192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86544077 86544192 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86544078 86544192 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86579796 86579976 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86579808 86579975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86579907 86579972 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86592501 86594000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 86593726 86593826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86635390 86635901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86680553 86682544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 86689038 88774485 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 86740760 86779106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86756284 86784643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86757000 86773912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86759456 86759596 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86759458 86759596 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86759458 86759596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86760065 86772985 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86762376 86777650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86763801 86773000 Deletion Glioma mate-paired sequence 20126413 chr6 86764238 86777219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86764632 86776204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 86768054 86768154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86776719 86817839 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 86821431 86821531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86852852 86853571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 86852852 86853571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86852858 86853538 Gain and loss Pancreatic cancer SNP array 17952125 chr6 86886751 86886851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 86936884 86937455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86980674 86981013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 86980684 86981013 Gain and loss Pancreatic cancer SNP array 17952125 chr6 87009318 87009418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87019180 87019280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8705347 8705442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87068942 87070347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 8716127 8716227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87163714 87163814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87164406 87164506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87165716 87170686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 87198681 87199106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87200000 170899992 Translocation Developmental delay FISH 19490664 chr6 87202286 87202575 Gain and loss Pancreatic cancer SNP array 17952125 chr6 87202286 87202575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87237485 87237532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87239924 87240032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87294519 87294619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8733009 8733109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87349142 87349222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87427168 87427268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 874288 874383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87456408 87456408 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 chr6 87456408 87456408 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr6 87462911 87474560 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 87463370 87467838 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 87464243 87464343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87466524 87467835 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 87496145 87496545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87500000 92100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 87500000 92100000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 87500000 92100000 Loss Urothelial cell carcinoma FISH 18451213 chr6 87500000 98700000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr6 87513222 87701933 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 87513222 87701933 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 87534959 87535369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87567554 88552969 LOH Normal High-resolution SNP genotyping 21211785 chr6 87663555 87663858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87663984 87664120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87703975 87783120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 87703975 87783120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87704164 87783068 Gain and loss Pancreatic cancer SNP array 17952125 chr6 87705 90059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 8772860 8773264 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 87735215 87735315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87736879 87737629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87736903 87737282 Gain and loss Pancreatic cancer SNP array 17952125 chr6 87766483 87766726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87836593 87836840 Gain and loss Pancreatic cancer SNP array 17952125 chr6 87836593 87836898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87837734 87860382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 87849676 87849911 Gain and loss Pancreatic cancer SNP array 17952125 chr6 87849676 87849911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87851935 87861569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 87851935 87861569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87851937 87861543 Gain and loss Pancreatic cancer SNP array 17952125 chr6 87874602 88049676 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 87887595 87887695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87888130 87889030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87894022 87894122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87908250 87908350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87916169 87916269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87921085 87921175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 87921988 88030125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 87921988 88030125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 87922013 88027070 Gain and loss Pancreatic cancer SNP array 17952125 chr6 87939805 87940740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88000000 135200000 Copy number Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 chr6 88000000 93100000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr6 88049417 88089496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88049417 88089496 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88049417 88089496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88065209 88066884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88065234 88065849 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88089023 88107891 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88089025 88108762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88089025 88108762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88089469 88089555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 88092855 88092955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 88095270 88101640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 88107460 88107534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 88111319 88131900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88111319 88131900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88163559 88170271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88174440 88230901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88174440 88230901 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88174440 88230901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88174893 88174987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 88192232 88192525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88207602 88208583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88210832 88211612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88239414 88278766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88239414 88278766 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88239414 88278766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88254882 88254986 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88254882 88254989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88280822 88356424 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88280822 88356424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88280822 88356440 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88342481 88342956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 88356558 88433888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88356558 88433888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88356562 88433885 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88374109 88424279 Loss Autism Exome sequencing and CGH 22495309 chr6 88376962 88377289 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 88407077 88407177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 88415707 88498192 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 88439722 88439815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 88441694 88468645 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88441696 88468645 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88441696 88468645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88487352 88487454 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88487352 88487454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88555686 88555786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 88561331 88561431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 88584863 88584963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 88592610 88592722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88592612 88592722 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88612087 88612382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88612087 88612384 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88612087 88612384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88613982 88614069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88639261 88639361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 88658083 129205666 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr6 88695733 88712520 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 88708028 88708099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 88740334 88774559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 88787949 88790037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 88811023 170520983 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr6 88814226 88833269 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88814226 88833269 Gain and loss Pancreatic cancer SNP array 17952125 chr6 88814226 88833269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88857859 88859115 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 88879335 89016613 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 88906302 88932385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 88906302 88932385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 88910294 88911712 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89003119 89036538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 89031596 89031949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89031737 89031958 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89042320 89043427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89042362 89043403 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89147456 89318637 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 89173601 89173701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 89262412 89262512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 89344019 90123488 LOH Normal High-resolution SNP genotyping 21211785 chr6 89376707 89730067 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr6 89376708 89730067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 89376708 89730067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89376712 89730034 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89380083 89426690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 89477989 89509075 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 89480680 89480859 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89480680 89480868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89480680 89480877 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89480872 89481179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 89492926 89493026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 8959816 8959923 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 896112 896212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 89702 522691 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 89702 598718 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 8970701 8970751 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 89716312 89716431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89730965 89733404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89767986 89768252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89773710 90724597 LOH Normal High-resolution SNP genotyping 21211785 chr6 89825850 89826717 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89826066 89826547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89829938 89830128 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89829938 89830128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89829941 89830128 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89834711 117000888 Deletion Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr6 89847189 89851598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 89847189 89851598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89847216 89851598 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89857384 89857678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89857384 89857680 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89862398 89884519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 89862398 89884519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89864936 89884453 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89898735 89903658 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 89912488 89932000 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89912488 89932003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 89912488 89932003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89937526 89946180 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 89944691 89983779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 89944691 89983779 Gain and loss Pancreatic cancer SNP array 17952125 chr6 89944691 89983779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 89978473 89978899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 89991901 89991999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90022053 90022139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90023958 90081676 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90023958 90081737 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90023958 90081737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90056463 90056563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90068221 90069552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90068668 90068774 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90068668 90068774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90068860 90069552 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90093066 90119338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90093066 90119338 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90093066 90119338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90094887 90094981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90129129 90129537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90131436 90178714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90131436 90178714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90131437 90178508 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90188537 90189486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90198215 90198315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90199616 90400123 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90199616 90400123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90199651 90400274 Gain and loss Pancreatic cancer SNP array 17952125 chr6 9020287 9020607 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 90218154 90218251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9022228 9022328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9023073 9023223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90244579 90244869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90244579 90244871 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90244579 90244871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90372343 90372443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90374262 90374386 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 9037480 9037580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90398666 90405195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90398666 90405195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90403140 90405189 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90409952 90586163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90409952 90586163 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90409952 90586163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90472444 90473915 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr6 90564038 90564317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90581116 90581903 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90581149 90581903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90588733 90589034 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90589735 90589835 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90589735 90589835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90596349 90637843 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90596379 90637843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90596379 90637843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90603477 90635640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 90607769 90607862 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90607769 90607864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90607770 90607852 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90642984 90643318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90652596 90654277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90660909 90662540 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90660909 90662560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90660909 90662560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90664722 90664832 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90664723 90664832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90664729 90664832 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90692969 91063182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 90692969 91063182 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90692969 91063182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90704743 99500862 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 chr6 90711819 90711901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90730104 90730296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90730342 90730505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90767641 90767946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90767708 90767946 Gain and loss Pancreatic cancer SNP array 17952125 chr6 90767708 90767946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 90774161 90774193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90845752 90845852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 90860357 91442248 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr6 90860357 91442248 Copy number gain Normal High-resolution SNP genotyping 21211785 chr6 9086296 9199728 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr6 9086751 9181500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 90883140 90883545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 9095001 9103000 Loss Normal TaqMan assays 20972442 chr6 91017922 91018019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 91044593 94867896 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 91088815 92150524 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 91107911 91108011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91109720 91109795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91134507 91134607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91152000 100752000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 91152410 95641352 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 chr6 91152410 96952410 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 91181892 91227487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 91186881 91186981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91236802 91236985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 91249512 91370379 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 chr6 91265346 91477694 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 91282073 91353628 Copy number Lung cancer - 20668451 chr6 91282073 91353628 Gain or loss Breast cancer - 20668451 chr6 91282073 91353628 Gain or loss Cancer - 20668451 chr6 91282073 91353628 Gain or loss Lung cancer - 20668451 chr6 91282073 91353628 Gain or loss Ovarian cancer - 20668451 chr6 91282073 91353628 Gain or loss Pancreas cancer - 20668451 chr6 91282073 91353628 Gain or loss Prostate cancer - 20668451 chr6 91282074 91353628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 91282074 91353628 Gain and loss Pancreatic cancer SNP array 17952125 chr6 91282074 91353628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 91294297 91294617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 9144827 9144949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 91488201 91521891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 91529755 91529855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91622215 91622309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91636277 91636377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91664935 91665035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91701301 91726970 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 91707028 91707128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91728273 91993165 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-526K arrays 21546498 chr6 91811301 94277974 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-529K arrays 21546498 chr6 918606 918706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91869420 91869520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 91869495 103839927 Substitutions and indels small cell lung cancer array-CGH 20016488 chr6 91935141 93625611 LOH Normal High-resolution SNP genotyping 21211785 chr6 91940171 93625611 LOH Normal High-resolution SNP genotyping 21211785 chr6 92001175 92002796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 92100000 104800000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr6 92100000 104800000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 chr6 92100000 170899992 Copy number Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 chr6 92100000 98700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 92100000 98700000 Loss Prostate cancer Array CGH 16573809 chr6 92100000 98700000 Microdeletion Neuropathy Oligonucleotide aCGH 19664229 chr6 92100000 98700000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr6 92170532 92170632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9222043 9222133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 92343571 92343671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 92346042 92346104 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 92357438 92357741 Gain and loss Pancreatic cancer SNP array 17952125 chr6 9237866 14634950 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 92425014 93826003 LOH Normal High-resolution SNP genotyping 21211785 chr6 92485304 127156139 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr6 92493475 92493536 Gain and loss Pancreatic cancer SNP array 17952125 chr6 92493475 92493536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92493544 92493610 Gain and loss Pancreatic cancer SNP array 17952125 chr6 92493544 92493610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92493598 92493753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92493721 92493944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92506048 92506334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92506048 92506337 Gain and loss Pancreatic cancer SNP array 17952125 chr6 92506048 92506337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92507272 92507372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 92520510 92520610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 92575015 94867896 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 92582282 92582867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92628192 92628292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9264424 9264499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 92677389 92701891 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 92752041 92752141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 92767349 92988105 Deletion Intellectual disability Array CGH 22102821 chr6 92780281 92781173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92817123 92861846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 92830152 92830252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9284089 9284164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 92864716 92865041 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 92885862 92886070 Gain and loss Pancreatic cancer SNP array 17952125 chr6 92885862 92886073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 92885862 92886075 Gain and loss Pancreatic cancer SNP array 17952125 chr6 92889739 92889889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 92967374 92967696 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 92971802 92971924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9307693 9307815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 93100000 105500000 Loss Prostate cancer Array CGH 16573809 chr6 93100000 114600000 Loss Basal cell lymphoma CGH 17170743 chr6 93100000 114600000 Loss Prostate cancer Array CGH 16573809 chr6 93100000 118300000 Loss Prostate cancer Array CGH 16573809 chr6 93100000 99500000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr6 93159029 93282768 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr6 93221388 93234773 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 93303236 93303336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93437217 93437275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93476862 93476957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93515658 93515758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93554800 93588378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 93556892 93557094 Gain and loss Pancreatic cancer SNP array 17952125 chr6 93556892 93557094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 93556892 93557103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 93575936 93576141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93576135 93576371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93576172 93576272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93581259 93581473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 93631831 93636707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 93632575 93635339 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 93632587 93635351 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 93654233 93655020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 93709920 93754828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 9381801 9382935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 9381868 9382879 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 93845487 93860734 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 93858415 93859290 Gain and loss Pancreatic cancer SNP array 17952125 chr6 93858415 93859290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 93918602 93918702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93938217 93938317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93939108 93957737 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr6 93953205 93953305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93975694 93975794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 93980841 93980941 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9399550 11804493 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 9399550 9680419 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 94007859 94185993 Copy number Lung cancer - 20668451 chr6 94007859 94185993 Gain or loss Breast cancer - 20668451 chr6 94007859 94185993 Gain or loss Cancer - 20668451 chr6 94007859 94185993 Gain or loss Lung cancer - 20668451 chr6 94007859 94185993 Gain or loss Ovarian cancer - 20668451 chr6 94007859 94185993 Gain or loss Pancreas cancer - 20668451 chr6 94007859 94185993 Gain or loss Prostate cancer - 20668451 chr6 94007864 94185993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 94007864 94185993 Gain and loss Pancreatic cancer SNP array 17952125 chr6 94007864 94185993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 94032336 94032436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94055844 94075281 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 94105515 94105585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94118450 94976533 LOH Normal High-resolution SNP genotyping 21211785 chr6 94141794 94141864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94176798 94176878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94199812 94199883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9421388 9421453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94400000 94960000 Copy number Cognitive impairment - 21505072 chr6 94400000 95000000 Copy number Cognitive impairment - 21505072 chr6 94409786 94517906 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 94419550 95073427 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr6 94449107 94494033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 94450934 94497325 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 94454227 94454287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 94470828 94470928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94545726 94653012 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 94582549 94582649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 945922 29803052 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr6 94610606 94653071 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 94620754 94620854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94645545 94645665 Gain and loss Pancreatic cancer SNP array 17952125 chr6 94645545 94645666 Gain and loss Pancreatic cancer SNP array 17952125 chr6 94662 121697 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 94682651 94682983 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 94697024 94697124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94714085 94714251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 94773529 94808513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 94777379 94777422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94894696 94894786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 94919341 94919441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94936872 94936966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 94953933 96307508 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 94975079 95407647 Loss Autism - 20841430 chr6 94982708 95377539 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 94982708 95446907 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 95019793 95025817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95052001 95052101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 95055552 95095224 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 95085197 96939216 Deletion Breast cancer Illumina high-density SNP arrays 18852474 chr6 95093739 95093829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 95102238 95102338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 95111176 95111401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 95111176 95111401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 95127501 95129000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 95152195 95152282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 95166983 95167082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 95210000 123030000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr6 95213179 95213618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 95213562 95213629 Gain and loss Pancreatic cancer SNP array 17952125 chr6 95213562 95213629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 95213631 95213702 Gain and loss Pancreatic cancer SNP array 17952125 chr6 95213700 95213768 Gain and loss Pancreatic cancer SNP array 17952125 chr6 95213700 95213768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 95233822 95234063 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95235660 95279952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 95238297 95238603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95247901 95253000 Deletion Glioma mate-paired sequence 20126413 chr6 95250044 95251057 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95250114 95251113 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr6 95264814 95451409 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr6 95275968 95276068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 95330385 95390885 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 95345969 95348506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95368250 95368350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 95368400 95368500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 95390885 95415231 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 95392340 95392641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95392344 95392648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95415231 95590059 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 95445999 95627767 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr6 95446011 95673830 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr6 95457549 95457643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95500978 95593969 Copy number loss Normal High-resolution SNP genotyping 21211785 chr6 95508973 95590047 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 95546322 95665042 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr6 95556287 95616345 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr6 95597240 95600150 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 95600150 95627779 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 95627779 95644773 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 95630399 95630723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 95644773 95650995 Loss Normal Birdsuite, version 1.5.2 22087296 chr6 9568364 9568699 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr6 95715585 95715917 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr6 95933882 104215122 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr6 95941606 99824130 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr6 95960637 97179182 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 95964502 96288283 Gain Autism - 20841430 chr6 96009435 96009616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 96009438 96009538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 96058779 96059093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 96132134 96164047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 96132134 96164047 Deletion T-cell lymphomas Array-CGH 22341440 chr6 96132134 96164047 Gain and loss Pancreatic cancer SNP array 17952125 chr6 96132134 96164047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 96155502 96159398 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 96184712 96187526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 9631944 9640263 Gain Normal Birdsuite, version 1.5.2 22087296 chr6 96361189 96939216 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr6 96397114 135424712 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr6 96400203 96652113 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 96454822 96454912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 96489300 96528053 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr6 96492752 96493016 Gain and loss Pancreatic cancer SNP array 17952125 chr6 96492752 96493016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 96494323 96496140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 96508985 96509180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 96515237 96595378 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr6 96545704 96546946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 96546325 96546732 Gain and loss Pancreatic cancer SNP array 17952125 chr6 96556501 96558000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 96570590 96760477 Deletion T-cell lymphomas Array-CGH 22341440 chr6 96570590 96760477 Gain and loss Pancreatic cancer SNP array 17952125 chr6 96570613 96760477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 96570613 96760477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 96686855 96686956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 96693908 96694375 Gain and loss Pancreatic cancer SNP array 17952125 chr6 96732195 96732295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 96803606 96803747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 96807049 96808211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 96837164 96837462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 96837168 96837460 Gain and loss Pancreatic cancer SNP array 17952125 chr6 96837168 96837460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 96959519 96959849 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 97009754 97039552 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 97017531 97017681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9702024 9702245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9702218 9702458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97076438 97109870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 97076438 97109870 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97076438 97109870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97076438 97109873 Deletion T-cell lymphomas Array-CGH 22341440 chr6 9710262 9710362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97117156 97171233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 97117156 97171233 Deletion T-cell lymphomas Array-CGH 22341440 chr6 97117156 97171233 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97117156 97171233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 9717791 9717881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97179182 99201267 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 97203086 97203669 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97203086 97203669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97204050 97204188 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97204050 97204188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97207871 97208739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97226726 97227566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97226769 97226869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97266952 97267096 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 97266966 97267122 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 97285237 98125935 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 97305421 97306325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97309859 97309959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97352609 97392074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 97352609 97392074 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr6 97352609 97392074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97352645 97391921 Deletion T-cell lymphomas Array-CGH 22341440 chr6 97352645 97391921 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97364470 97364570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97366911 97367011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97445612 97452476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 97445612 97452476 Deletion T-cell lymphomas Array-CGH 22341440 chr6 97445612 97452476 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97445612 97452476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97469296 97469592 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97469298 97469592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97473595 97473674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97479000 107079000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 97479217 97695351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 97479217 97695351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97479324 97694980 Deletion T-cell lymphomas Array-CGH 22341440 chr6 97479329 97694980 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97517630 97531875 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 97574741 97577267 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 97594112 97594321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 97594326 97594421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97611763 97612078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 97639820 97639920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97696758 97837773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 97696758 97837773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 97701132 97837773 Deletion T-cell lymphomas Array-CGH 22341440 chr6 97701132 97837773 Gain and loss Pancreatic cancer SNP array 17952125 chr6 97751659 97751759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97861536 97861636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9788061 9788161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97912764 97912844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 97954244 97954344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98045379 98045479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9807766 9836549 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 98119288 107977239 Loss Developmental delay affymetrix genechip 500K/SNP 6.28 array 21147756 chr6 98125801 98879689 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 9813644 10085787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 9813644 10085787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 9813644 10168908 Gain and loss Pancreatic cancer SNP array 17952125 chr6 98182880 98215903 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 98206555 98206694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98251158 98251321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98367888 98367988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9839000 19439000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 9839390 19139390 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 98493007 98493095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98510987 98511600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 98578340 98578429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98621268 98666042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 98637582 98637682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98702305 98704754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr6 98706006 98706106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98734096 98734308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 98747832 98750315 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr6 98752984 98753084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9876830 9876930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98798596 98811915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 98817572 98817672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98910845 170899992 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-536K arrays 21546498 chr6 98919852 98919952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 98941606 99824130 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chr6 99017687 99051432 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 99026103 99026203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 99029181 99058601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 99080150 99114838 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 99122373 99122569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 99200088 99516963 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 99235885 99235985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 99259648 99262383 Gain and loss Pancreatic cancer SNP array 17952125 chr6 99272920 99273020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 99334859 99383576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 99385501 99390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr6 99389301 99393381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 99389301 99393381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 99389315 99391256 Deletion T-cell lymphomas Array-CGH 22341440 chr6 99389332 99393383 Gain and loss Pancreatic cancer SNP array 17952125 chr6 99390955 102590955 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 99391000 108991000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr6 99428055 99502570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 99428055 99502570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 99428322 99502570 Deletion T-cell lymphomas Array-CGH 22341440 chr6 99428322 99502570 Gain and loss Pancreatic cancer SNP array 17952125 chr6 99435919 99436019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 995229 1036073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr6 99605809 99605909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 9961912 9962012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 99620521 105813274 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr6 99637666 99637737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 99729305 99730078 Gain and loss Pancreatic cancer SNP array 17952125 chr6 99729326 99730110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 99834073 99904014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 99834073 99904014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 99835259 99904252 Deletion T-cell lymphomas Array-CGH 22341440 chr6 99835761 99904252 Gain and loss Pancreatic cancer SNP array 17952125 chr6 99852000 102492000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr6 99878469 99878569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr6 99900000 104800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 99900000 104800000 Copy number Normal - 21701786 chr6 99900000 104800000 Deletion Obesity References 21045960 chr6 99900000 104800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr6 99900000 104800000 Loss Glioblastoma multiforme aCGH 21080181 chr6 99900000 104800000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr6 99900000 104800000 Loss Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr6 99900000 104800000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr6 99900000 170899992 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr6 99923997 99948801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 99923997 99948801 Gain and loss Pancreatic cancer SNP array 17952125 chr6 99923997 99948801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 99924073 99948801 Deletion T-cell lymphomas Array-CGH 22341440 chr6 99954924 99969288 Deletion T-cell lymphomas Array-CGH 22341440 chr6 99954924 99979905 Gain and loss Pancreatic cancer SNP array 17952125 chr6 99955137 99979881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 99955137 99979881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 99986905 100070033 Gain or loss Breast cancer - 20668451 chr6 99986905 100070033 Gain or loss Cancer - 20668451 chr6 99986905 100070033 Gain or loss Lung cancer - 20668451 chr6 99986905 100070033 Gain or loss Ovarian cancer - 20668451 chr6 99986905 100070033 Gain or loss Pancreas cancer - 20668451 chr6 99986905 100070033 Gain or loss Prostate cancer - 20668451 chr6 99986911 100070029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr6 99986911 100070029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr6 99987038 100069973 Deletion T-cell lymphomas Array-CGH 22341440 chr6 99987038 100070029 Gain and loss Pancreatic cancer SNP array 17952125 chr7 0 0 Loss Cervical cancer array CGH 21063398 chr7 0 158821424 Amplification or deletion Normal BAC aCGH 22315515 chr7 100000141 100342681 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 100002657 100005961 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100002657 100005961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100007791 100009717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100007791 100009717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100007846 100009717 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100009570 100021712 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100009570 100021712 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100009570 100021712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100021892 100036674 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100021892 100036674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100021892 100036674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100022501 100109000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 100037817 100043734 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 100037818 100043732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100037924 100043730 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100044838 100069678 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100044838 100069678 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100047661 100050932 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100047661 100050932 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100047661 100050932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100051377 102104576 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 100055975 100077109 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100055975 100077109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100055975 100077109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10005705 10005805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100078678 100092007 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100078678 100092007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100078678 100092007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100087980 100117418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100095009 100109284 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100095009 100109284 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100109001 100120500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 100109311 100114733 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100109311 100114733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100109311 100114733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100109689 100115721 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100109696 100115727 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100115065 100124806 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 100115066 100124806 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100115066 100124806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100115066 100124806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100117386 100130936 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100117386 100130936 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100120501 100963000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 100124474 100124923 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 100131115 100131543 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100131115 100132199 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100132267 100138160 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100132269 100138147 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100141702 100143045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100141702 100143045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100141705 100143053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100148562 100148848 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100156359 100159257 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100156359 100159257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100156359 100159257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10016127 10061390 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 10016127 10062788 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 10016127 10083322 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 100162058 100162158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100164201 100180200 Deletion Glioma mate-paired sequence 20126413 chr7 100165508 100178667 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 100165798 100181151 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 100165813 100178563 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr7 100165968 100175765 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr7 100165968 100178519 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr7 100166129 100178563 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr7 100167180 100170778 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 100167180 100170778 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 100169580 100233354 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100169580 100233354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100169580 100233354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100169690 100172091 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr7 100175838 100178460 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 100195238 100205054 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100199479 100342681 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 100199479 100342681 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 100199497 100342681 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 100200313 100202721 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100204864 100912984 LOH Normal High-resolution SNP genotyping 21211785 chr7 10020782 10020882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100215877 100243057 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 100216471 100232367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100224913 100235757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100228569 100231985 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100228855 100235649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100228885 100233407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100229097 100235915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100232990 100235726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100235148 100236963 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 100236577 100250906 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100236601 100237519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100237018 100255622 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100237110 100251325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100237211 100267651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100237351 100249466 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100237892 100263645 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100238122 100263079 Copy number Lung cancer - 20668451 chr7 100238122 100263079 Gain or loss Breast cancer - 20668451 chr7 100238122 100263079 Gain or loss Cancer - 20668451 chr7 100238122 100263079 Gain or loss Lung cancer - 20668451 chr7 100238122 100263079 Gain or loss Ovarian cancer - 20668451 chr7 100238122 100263079 Gain or loss Pancreas cancer - 20668451 chr7 100238122 100263079 Gain or loss Prostate cancer - 20668451 chr7 100238123 100263079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100238123 100263079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100238123 100263079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100238748 100251276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100239122 100263551 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100239913 100258957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100241528 100255651 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100277090 100311184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100278523 100295454 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100284665 100284729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100288294 100302567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100288294 100302567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100288294 100302567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100295016 100295261 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100302886 100309004 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100302886 100309004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100302886 100309004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100310671 100324221 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100310671 100324221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100310671 100324221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1003167 1144419 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 1003168 1144419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1003168 1144419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100322155 100327322 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100322221 100327344 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100324400 100325065 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100324400 100325065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100324400 100325065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100325552 100331477 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100325552 100331477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100325552 100331477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100327483 100337907 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100341847 100342133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10035664 10035878 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100363887 100375741 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100363887 100375741 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100365101 100491600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 100385096 100398332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100385096 100398332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100385193 100398332 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100385507 100394987 Gain Normal TaqMan assays 20972442 chr7 100387807 100389886 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 100391202 100397991 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100391202 100397992 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100399232 100402287 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100399232 100402309 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100399623 100448949 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 100407213 100416992 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100407386 100480418 Loss aortic dissecting aneurysms Array-CGH 22263138 chr7 100407386 100480418 Loss Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr7 100417700 100425653 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100421081 100424932 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100423076 100433170 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 100424760 101127400 LOH Normal High-resolution SNP genotyping 21211785 chr7 100425314 100429603 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100425314 100429603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100426458 100434222 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr7 100429985 100432852 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100432450 100437737 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100434275 100434354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100434813 100448936 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100434813 100448936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100434813 100448936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100440327 100441169 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100442702 100454303 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100442702 100454303 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100450084 100488860 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100450084 100488860 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100450084 100488860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100454420 100460904 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100454420 100460906 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100454489 100454544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100463769 100496409 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100465401 101903620 LOH Normal High-resolution SNP genotyping 21211785 chr7 100468809 100474551 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100468810 100475536 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100476328 100481801 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100476328 100481801 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100488300 100488619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100491601 101781900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 100506654 100506757 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100515440 100520607 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100515440 100520607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100515440 100520607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100525765 141752861 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 100550084 100558465 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100550084 100558512 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100552198 100552277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100557172 100569026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100557172 100569026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100557172 100569026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100584398 100591240 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100584406 100591277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100584406 100591277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100592517 100595594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100592517 100595594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100592517 100595594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100599749 100794245 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100599749 100794245 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100600498 100610277 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100600498 100610277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100600498 100610277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100607831 100607886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100625737 100631022 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100625737 100631022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100625737 100631022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100631814 100633276 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100631814 100633276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100633612 100634454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100633612 100634454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100635977 100647731 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 100635979 100647731 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100635979 100647731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100635979 100647731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100642239 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100642239 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100644332 100644432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100647705 100654189 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100647705 100654189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100648182 100654189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100648182 100654189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100650197 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100650197 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100657285 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100657285 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100659002 100659102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100660814 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100660814 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100660814 100943545 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100660814 100943545 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100662093 100668821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100662093 100668821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100662093 100668821 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 100662094 100667836 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100662519 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100662519 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100666043 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100666043 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100668136 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100668136 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100668146 100675057 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100668254 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100668254 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100669264 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100669264 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100669264 100943545 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100669264 100943545 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100669615 100675091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100669615 100675091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100670431 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100670431 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100670431 100943545 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100670431 100943545 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100672372 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100672372 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100674513 100940495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100674513 100940495 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100699939 100700042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1007029 1011848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100715342 100914175 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr7 100717337 100719776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100717482 100719765 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100743369 100751750 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100743369 100751750 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 100743369 100751750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100753702 100918146 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100753702 100918146 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100753702 100923076 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 100753702 100923076 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 100755083 100914175 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 100770378 100782547 Loss Central neurocytomas Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr7 100777131 100802353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100787738 100793753 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 100787972 100792208 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 100792821 100989024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100792842 100989024 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100806822 100806889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100813127 100813227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100820263 100820315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1008205 1038379 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 1008211 1016101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 100833944 100857633 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100845878 100846985 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 100847612 100847675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 100850190 100860979 Amplification T-cell lymphomas Array-CGH 22341440 chr7 100850190 100865833 Gain and loss Pancreatic cancer SNP array 17952125 chr7 100866701 100870500 Deletion Glioma mate-paired sequence 20126413 chr7 100867981 100868945 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 100897311 100897659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 100902714 100936342 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 100906891 100913300 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 100906891 100913300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 100946719 100946792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 100956648 100965093 Duplication Autism quantitative multiplex PCR 19401682 chr7 100963001 100978500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 100978501 101075750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 101006121 101202304 Duplication Autism quantitative multiplex PCR 19401682 chr7 101043326 101059296 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101043326 101059296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101043326 101059296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101052726 101520684 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101052727 101520685 Amplification T-cell lymphomas Array-CGH 22341440 chr7 101065218 101073576 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101065218 101073576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101075751 101120500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 101120501 101180000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 101120916 101121235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 101145444 101180539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101165612 101165696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101169133 101170655 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 101175494 101390682 Deletion Splenic marginal zone lymphoma FISH,BAC CGH array,Tiling CGH array,LOH analysis 21957467 chr7 101180001 101700000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 101205634 101205754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 101209803 104474322 Deletion Cancer single-nucleotide polymorphism array 19907438 chr7 101246012 101713969 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101246012 101713969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101246012 101713969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101247601 101680064 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 101250280 101250380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101383181 101383266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101430791 101430894 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101447716 101447816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101494175 101666167 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 101521887 101555613 Amplification T-cell lymphomas Array-CGH 22341440 chr7 101537270 101555532 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101558930 101559043 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101570716 101570815 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101570716 101570816 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101581977 101588841 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101591120 101591337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101592296 101592796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101597754 101660840 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101616819 101617039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101618599 101618828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101624076 101624179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101630530 101660847 Amplification T-cell lymphomas Array-CGH 22341440 chr7 101658132 101658232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101667737 101682883 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101667743 101682883 Amplification T-cell lymphomas Array-CGH 22341440 chr7 101684488 101815428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101689607 101826848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101690412 101699008 Amplification T-cell lymphomas Array-CGH 22341440 chr7 101690432 101699008 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101699100 101707328 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101699110 101707332 Amplification T-cell lymphomas Array-CGH 22341440 chr7 101700001 101749000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 101707624 101713077 Amplification T-cell lymphomas Array-CGH 22341440 chr7 101707624 101713078 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101708261 101838257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101714318 101714800 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101714959 101715059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101715166 101748817 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101715166 101748817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101715166 101748817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101717311 101751877 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101724416 101958772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101729147 101846856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101741007 101841306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101742186 101860962 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101744846 101861209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101749001 101873500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 101752215 101752328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101759497 101760714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 101761137 101879614 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101764001 101764102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101772085 101806834 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101772912 101783609 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 101774127 101780642 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101774127 101780642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101774127 101780642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101775487 101880743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101781901 104033600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 101787574 101894663 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101789999 101909999 Duplication Hypoplastic left heart syndrome Nimblegen Systems whole-genome array CGH 22349727 chr7 101791064 101854125 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101791064 101854125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101791064 101854125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101799730 101913754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101803309 101908419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101811019 101914292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101813884 101851111 Amplification T-cell lymphomas Array-CGH 22341440 chr7 101813884 101851111 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101814886 101933936 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101815012 101942080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101815048 101940222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101823864 101852898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101825756 101930685 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101833194 101833307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101837056 101878089 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr7 101861022 101876168 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101861022 101876168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101861022 101876168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101865927 101866019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101866051 101866110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101873501 102118000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 101879279 101879647 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101883702 101892293 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101883702 101892293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101883702 101892293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101892385 101900613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101892395 101900613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101892395 101900613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101900000 102220000 Gain Breast cancer aCGH 21509527 chr7 101900555 101906715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101900555 101906715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101900555 101906715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101901561 102120157 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 101907433 102107091 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101907433 102107091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101907433 102107091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101910974 101945162 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101910974 101945162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101914350 101929241 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr7 101931177 101931271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 101934655 101934739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101958618 101981754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 101965371 102000201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101965373 102000093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 101965373 102000093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101983351 101989853 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 101983352 101989855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 101983352 101989855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 101983606 101984037 Gain and loss Pancreatic cancer SNP array 17952125 chr7 101989541 101990337 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102001355 102007318 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102001355 102007318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102007194 102044425 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102007194 102044425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102007194 102044425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102025190 102123388 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 102025190 102124064 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 102025190 102168229 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 102033880 102033964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102047631 102309231 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102063917 103471491 LOH Normal High-resolution SNP genotyping 21211785 chr7 102064709 102070474 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 102064709 102099418 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 102064710 102099412 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102064710 102099418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102064710 102099418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102069003 102069104 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102073235 102087369 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102073235 102087369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102082576 102089083 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102082576 102089083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102082576 102089083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102091848 102092169 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102091850 102092083 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102099109 102144422 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 102100562 102106539 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102100562 102106539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102104576 113952544 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 102113412 103471491 LOH Normal High-resolution SNP genotyping 21211785 chr7 102130677 102130995 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 102135311 102152748 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 102139082 102145851 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 102146429 109221613 LOH Normal High-resolution SNP genotyping 21211785 chr7 102147403 102179347 Gain and loss Pancreatic cancer SNP array 17952125 chr7 10215184 10215356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 10215342 10215524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 102176634 102236907 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 102176711 102236523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102176711 102236523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102176891 102177322 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102182826 102183622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102204439 102249650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 102207955 102210613 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102220090 103471491 LOH Normal High-resolution SNP genotyping 21211785 chr7 102240916 102502453 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102240916 102502453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102240916 102502453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102273590 102493457 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 102275941 102276279 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 102285135 102285368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10228949 10229162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102300000 103800000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr7 102309279 102334156 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102334182 102383464 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102340683 102372775 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102340683 102372775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102340683 102372775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102340687 102372632 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 102383167 102401392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 102386463 102386743 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102401398 102408644 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 102409532 102514792 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102421112 102446986 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 102440713 103188258 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 102440713 103188258 LOH Normal High-resolution SNP genotyping 21211785 chr7 102466000 102509081 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 102476614 102476700 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102496398 102496706 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102497878 103536633 LOH Normal High-resolution SNP genotyping 21211785 chr7 102502563 102527441 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 102502564 102527432 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102502564 102527432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102502564 102527432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102514467 102514567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 102526988 102527088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 102527258 102576805 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 102527467 102576749 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102527467 102576749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102527467 102576749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102531847 102546957 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102546920 102579020 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102556117 102589921 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 102567866 102591992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 102582040 102602606 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102586301 102590400 Deletion Glioma mate-paired sequence 20126413 chr7 102587128 102680549 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102594819 102708093 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102594819 102708093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102594819 102708093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10260626 10275260 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 10260626 10284211 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 102621535 102656166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 102667861 102667959 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102667862 102667957 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102669394 102669490 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102669395 102669488 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102669899 102669985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102699832 102798745 Loss Autism Illumina 550K(Glessner et al.2009) 20531469 chr7 102701653 102708149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102703287 102707835 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102703341 102703461 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102706188 103223913 Gain and loss Pancreatic cancer SNP array 17952125 chr7 10271472 10271595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 102718613 102718937 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102718700 102718936 Gain and loss Pancreatic cancer SNP array 17952125 chr7 102725109 102742368 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102725109 102742368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102740157 102772556 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102740157 102772556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102740157 102772556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102775324 102795737 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 102775324 102795737 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 102775325 102795891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102775325 102795891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102775347 102796430 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102780412 102849197 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 102780412 102849197 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 102780413 102873834 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102780413 102873834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102780413 102873834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102836664 102868508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 102861144 102861244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102862677 102862775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102899472 103417198 Copy number Normal Illumina Human610-Quad BeadChip 21660214 chr7 102899473 103417198 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 102899473 103417198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 102899473 103417198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1029095 1029188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102911934 102912222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 102955780 158788150 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr7 102963127 103771360 Insert Prostate cancer array-based comparativegenomic hybridization 21147910 chr7 1029973 10317198 Copy number Autism exome sequencing 22495311 chr7 103042380 103406534 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 103042380 103406534 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 103081422 103081520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103188258 158821424 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 103250303 103250624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 103251234 103271074 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 103265704 103265804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 10328746 10328820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103342400 103342500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103360741 103442414 Gain and loss Pancreatic cancer SNP array 17952125 chr7 103446174 103446274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103449269 103449361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103490558 103739171 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 103490558 103775232 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 103503581 103503613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103554026 103635699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 103554026 103635699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 103554026 103635731 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 103559429 103561991 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 103559527 103559604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103563179 103989918 Gain and loss Pancreatic cancer SNP array 17952125 chr7 103586651 103586706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 103629819 103629888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103643671 103643988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 103662174 103662480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 103698165 104254200 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 103743125 103743215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103745194 104285167 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 103745564 103745664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103750502 103751502 Gain Chordoma References 21215367 chr7 103756464 104165503 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 103756464 104183203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 103770524 103770624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103798275 103798375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103800000 117400000 Deletion Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 chr7 103805008 103805108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103810426 104254200 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 10384664 10384764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103902147 103903959 Gain and loss Pancreatic cancer SNP array 17952125 chr7 103902191 103902291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103913392 103913492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103916752 103917032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 1039501 55946154 Copy number Lung cancer paired-end sequencing 18438408 chr7 103953606 103953706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 103974621 103974951 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 103995201 104032754 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 1039959 38336283 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 104030691 104079776 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 104033601 104387800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 104045867 104085555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 104072541 104072584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104095432 104096553 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 104095432 104096553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10411037 10411454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 104130720 104130809 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104144426 104144526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104146319 104146535 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104160090 104160175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1041688 40497818 Copy number Lung cancer paired-end sequencing 18438408 chr7 104217785 104217885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104224496 104224711 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104248588 104348759 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr7 104248588 104348759 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104250981 104252876 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 104251198 158409214 Deletion Acute myeloid leukemia - 21251322 chr7 104252876 104252877 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 104252877 104259886 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 104259886 104263771 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 104271812 104271872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104324005 104324094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104339600 104339876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104339604 104339820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10434192 11526677 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 104350775 104623292 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104360658 104704532 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 104377369 104377472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 104387801 105020300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 104400000 105900000 Copy number Normal - 21701786 chr7 104400000 105900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 104402435 104402770 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 104402977 104403060 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104417781 104417996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104420981 104431627 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 104421612 104500171 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 104423046 104423196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104432232 104715119 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 104438224 104441824 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 104440001 104442500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 104441872 104541768 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 104441873 104542044 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 104441873 104542044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 104441873 104542044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104466156 104466256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104467958 104468074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104500000 159138663 Loss Prostate cancer Array CGH 16573809 chr7 104529215 104529531 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 104544060 104816583 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 104544060 104816583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 104544060 104816583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104560249 104560483 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104567188 104567295 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104567188 104567296 Gain and loss Pancreatic cancer SNP array 17952125 chr7 10457463 10458678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1045895 1046581 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104631199 104631271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104643391 104653669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 104653522 104653621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104654295 104654428 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104672335 104672653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104690909 104756636 Gain and loss Pancreatic cancer SNP array 17952125 chr7 10470825 10472658 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 104740719 104740819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104753534 104753768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104755715 105039798 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 104760473 104760579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104764607 104765069 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104766483 104802075 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104800725 104815884 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104816656 104890311 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104820921 104821921 Loss Chordoma References 21215367 chr7 10482733 10483030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104839465 105116978 Gain and loss Pancreatic cancer SNP array 17952125 chr7 104847580 104847713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104870185 104870274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104884194 104949921 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 104884194 104949921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 104884194 104949921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104884195 104949921 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 10490955 10631135 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 104918039 104954368 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 104924541 104996235 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 104959767 104995360 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 104959768 104995360 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 104959768 104995360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 104959768 104995360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 104969715 104969795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 104977265 105001228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 104992816 105009212 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 104992817 105009183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 104992817 105009183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 105020301 105501000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 105032750 105310263 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 105032750 105310263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 105032750 105310263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 105053967 105054498 Gain and loss Pancreatic cancer SNP array 17952125 chr7 105095087 105095401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 105161708 105161907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105161772 105161872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105168973 105211789 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 105197636 105267836 Gain and loss Pancreatic cancer SNP array 17952125 chr7 105255697 105255797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105275098 106619597 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 105324909 105347008 Gain and loss Pancreatic cancer SNP array 17952125 chr7 105365759 109229542 LOH Normal High-resolution SNP genotyping 21211785 chr7 105390613 158432707 Gain Medulloblastoma array-CGH 16783165 chr7 105390921 105461133 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 105390921 105461133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 105390921 105461133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 105398271 105406565 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 105401284 105413220 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 105401284 105413220 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 105417936 105735847 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-576K arrays 21546498 chr7 105442563 105442664 Gain and loss Pancreatic cancer SNP array 17952125 chr7 105442564 105442664 Gain and loss Pancreatic cancer SNP array 17952125 chr7 105465903 105466073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105476989 105477072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105484607 105519308 Gain and loss Pancreatic cancer SNP array 17952125 chr7 105488104 105827138 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 105491465 105491765 Loss Chordoma References 21215367 chr7 105501001 106411800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 105518187 105540293 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 105518194 105540293 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 105518194 105540293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 105518194 105540293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 105521227 105521564 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 105553111 105574005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 105559705 105569426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 105564271 105564470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105564321 105564472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105564469 105564610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1055838 1058175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 105586909 105683978 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr7 105635849 105635949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 105649171 127990633 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 105675967 105712874 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 105675970 105712874 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 105675970 105712874 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 105675970 105712874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 105682316 105682348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105688903 105688988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105740611 105740709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105769871 111045610 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr7 105794188 106187184 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 105888733 105925638 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 105894296 105895281 Gain and loss Pancreatic cancer SNP array 17952125 chr7 105900000 107200000 Copy number Normal - 21701786 chr7 105900000 107200000 Copy number Squamous cell cancer aCGH 20885788 chr7 105900000 107200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 105900000 107200000 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr7 105900000 107200000 Gain Multiple myeloma CGH, FISH 16461302 chr7 105934381 105934481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105934520 105944713 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 105946225 105946325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105959380 105959478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 105982090 105983090 Gain Chordoma References 21215367 chr7 105993309 105993407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106011193 106011263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106056102 106056864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 106061530 106061606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106087581 106088566 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 106087581 106088566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106091021 107196776 LOH Normal High-resolution SNP genotyping 21211785 chr7 106091021 107221657 LOH Normal High-resolution SNP genotyping 21211785 chr7 106099692 106141516 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1061447 1065423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1061447 1065423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106241426 106241526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106255772 106255872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106258927 107628926 LOH Normal High-resolution SNP genotyping 21211785 chr7 106279129 106396206 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106284118 107220226 LOH Normal High-resolution SNP genotyping 21211785 chr7 106284118 107221657 LOH Normal High-resolution SNP genotyping 21211785 chr7 106287930 106288030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106291421 106291506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106292958 106334828 Copy number Lung cancer - 20668451 chr7 106292958 106334828 Gain or loss Breast cancer - 20668451 chr7 106292958 106334828 Gain or loss Cancer - 20668451 chr7 106292958 106334828 Gain or loss Lung cancer - 20668451 chr7 106292958 106334828 Gain or loss Ovarian cancer - 20668451 chr7 106292958 106334828 Gain or loss Pancreas cancer - 20668451 chr7 106292958 106334828 Gain or loss Prostate cancer - 20668451 chr7 106292958 106334828 Gain Ovarian cancer Array CGH 17875760 chr7 106293160 106334801 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 106293160 106334801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 106293160 106334801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106317759 106322670 Loss Normal 244K array 17666407 chr7 106403411 106436924 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106406530 106406584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106411801 107044300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 106418769 106418869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106436942 106798436 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106437670 106466603 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr7 10646339 10646439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106471 298664 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 106471 298664 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 106472375 106589491 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 106472375 106589491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 106472375 106589491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106472413 106589492 Gain or loss Breast cancer - 20668451 chr7 106472413 106589492 Gain or loss Cancer - 20668451 chr7 106472413 106589492 Gain or loss Lung cancer - 20668451 chr7 106472413 106589492 Gain or loss Ovarian cancer - 20668451 chr7 106472413 106589492 Gain or loss Pancreas cancer - 20668451 chr7 106472413 106589492 Gain or loss Prostate cancer - 20668451 chr7 106476 6396697 Gain Prostate cancer Array CGH 18632612 chr7 106489303 106489403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106570568 106570665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106596696 106630209 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 106596696 106630209 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 106596696 106630209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106604532 106604729 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106630227 106991721 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 106630227 106991721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 106630227 106991721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106704456 106710049 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106722566 106722632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106776985 106781617 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 106776985 106781617 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 106790023 106790173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106797817 106798014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106798383 106812912 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106814663 106854868 Gain and loss Pancreatic cancer SNP array 17952125 chr7 10684016 10684101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106854051 106854151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 106884075 106885075 Gain Chordoma References 21215367 chr7 106895031 106952198 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106895990 106896142 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106897738 106903359 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 106897738 106903359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 106897738 106903359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106978537 106993975 Gain and loss Pancreatic cancer SNP array 17952125 chr7 106991661 107006204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 106991661 107006204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 106991668 107006204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 106999869 107037603 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107006069 107006169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107007946 107058401 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107007946 107058401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107007946 107058401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107032449 107065991 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107044301 108309300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 107088316 107145490 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107088316 107145490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107088316 107145490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107125562 107154360 Gain and loss Pancreatic cancer SNP array 17952125 chr7 10714845 10714939 Gain and loss Pancreatic cancer SNP array 17952125 chr7 10714855 10714939 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107158215 107237755 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107171822 107187260 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107171822 107187260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107171822 107187260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10718822 10748879 Copy number Autism exome sequencing 22495311 chr7 107193156 107230888 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107193156 107230888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107193156 107230888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107200000 114400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 107200000 114400000 Copy number Normal - 21701786 chr7 107200000 114400000 Copy number Squamous cell cancer aCGH 20885788 chr7 107200000 114400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 107200000 114400000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr7 107200000 117200000 Gain Breast cancer - 16397240 chr7 107200000 126900000 Amplification Biliary cancer Array CGH 19435499 chr7 107200000 126900000 Gain Multiple myeloma CGH, FISH 16461302 chr7 107200000 126900000 Gain Non-small cell lung cancer dChip 21829676 chr7 107200000 126900000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 chr7 107200000 126900000 Gain Prostate cancer Array CGH 16573809 chr7 107200000 126900000 Loss Metanephric adenoma Oligo aCGH 20802469 chr7 107200000 132400000 Amplification Biliary cancer Array CGH 19435499 chr7 107200000 137300000 Amplification Adenocarcinoma Array comparative genomic hybridization 21044232 chr7 107200000 147500000 Deletion Splenic marginal zone lymphoma BAC CGH array 21957467 chr7 107227468 108327230 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 107234187 107234378 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107251304 107251975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 107257947 107364751 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107260348 107260448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107282327 108586596 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 107318822 107348879 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107318822 107348879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107318822 107348879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1073284 1093284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107351484 107431040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107351484 107431040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107351484 107431040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107380998 107381098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107382058 107690736 Amplification T-cell lymphomas Array-CGH 22341440 chr7 107382063 107690736 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107400000 114600000 Copy number Autism Affymetrix 10K version 2 SNP array 19401682 chr7 107400000 127100000 Amplification Non-small cell lung cancer FISH 19889201 chr7 107400000 127100000 Copy number Autism Affymetrix 10K version 2 SNP array 19401682 chr7 107400000 127100000 Copy number Autism Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 107400000 127100000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 107400000 127100000 Copy number Tourette syndrome Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 107400000 127100000 Deletion Acute myeloid leukemia Array CGH(References) 18000384 chr7 107400000 127100000 Gain Esophageal adenocarcinoma MLPA 18820669 chr7 107400000 127100000 Gain Metastatic melanoma FISH, Enzo BioArray CGH Labeling System 18483359 chr7 107400000 127100000 Gain Prostate cancer Array CGH 16573809 chr7 107400000 127100000 Loss Autism References 18414403 chr7 107400000 143100000 Amplification Melanoma In Situ Hybridization 19188590 chr7 107400000 159138663 Gain Prostate cancer Array CGH 16573809 chr7 107404609 107426007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107405364 107436959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107408345 107416799 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107413615 107428638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107414374 107426975 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107420055 107425932 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107421322 107429423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107427472 107427663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107451232 107558036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107451232 107558037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107451232 107558037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107455505 107456505 Gain Chordoma References 21215367 chr7 107457427 107458427 Loss Chordoma References 21215367 chr7 10746055 10753053 Deletion T-cell lymphomas Array-CGH 22341440 chr7 10746055 10753053 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107464527 107464617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107470923 108388458 LOH Normal High-resolution SNP genotyping 21211785 chr7 107471220 107471362 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 107472617 107504928 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107505394 107505457 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107575318 107884062 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107575318 107884062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107575318 107884062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1075828 1103086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107623107 114208035 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 10764943 13649605 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 107688504 107688573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107704819 107760519 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107704819 107760682 Amplification T-cell lymphomas Array-CGH 22341440 chr7 107744628 107745371 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107788083 108096826 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 107796916 107804118 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107801244 107801344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107804307 107809245 Amplification T-cell lymphomas Array-CGH 22341440 chr7 107804307 107809245 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1078279 1097067 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 107829043 107829265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107829131 107829259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 10786759 10982485 Deletion T-cell lymphomas Array-CGH 22341440 chr7 10786784 10916522 Gain and loss Pancreatic cancer SNP array 17952125 chr7 107893063 139259967 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-556K arrays 21546498 chr7 107899235 107953804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107899235 107953804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107899305 107953824 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107909691 107909771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107931121 107931271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107937913 107938656 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107948125 107948207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 107991768 107997133 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107991768 107997133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107991768 107997133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 107997592 108002530 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 107997592 108002530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 107997592 108002530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10801283 10801404 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 108035000 117635000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr7 108057359 158554645 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 108063364 108063452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 10807440 10807540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108102278 108102378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108140083 108140407 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 108220627 108220927 Loss Chordoma References 21215367 chr7 108221716 108222716 Gain Chordoma References 21215367 chr7 108225342 108226342 Loss Chordoma References 21215367 chr7 108239612 108239645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108242570 108393666 Gain Autism - 20841430 chr7 108250644 110390663 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 108260113 108260145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108288681 108288781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 108309301 111041700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 108311274 108311873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 108311274 108311873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 108311274 108311873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 108325697 108325797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108350759 108894515 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 108356109 108356209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108383251 108424837 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 108422928 108423028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108506183 109676950 LOH Normal High-resolution SNP genotyping 21211785 chr7 108524746 108524835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108637455 108637543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108671955 108672083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 108678221 110911881 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 108684137 108684237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1087859 1087915 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 108835635 108867644 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 1088370 1099977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1088370 1099977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 108840214 108841198 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 108888332 108888432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108889712 108889812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 108898621 121520062 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 108992635 109037264 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 109003931 109201570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 109013039 109173536 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 109020895 109055883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 109022798 109061162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 109024003 109066992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 109038206 109046954 Gain Normal 244K array 17666407 chr7 109064481 109064571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 10908130 10908226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 109084075 109084644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 10911252 10966416 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 109128034 109128244 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr7 10914325 10914425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109159667 109159767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109193226 109193442 Gain and loss Pancreatic cancer SNP array 17952125 chr7 109214916 109215016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109220983 109224328 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 109221023 109224323 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 109221023 109241205 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 109221613 109239955 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 109221613 109239955 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 109221613 109241831 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 109221613 109241831 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 109221613 109245143 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 109221613 109245143 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 109221613 109248161 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 109221613 109248161 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 109221801 109242900 Deletion Glioma mate-paired sequence 20126413 chr7 109223926 109241135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 109224316 109241027 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109241043 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109241082 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109241134 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109241134 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109241206 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109241495 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109247010 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109248884 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109249459 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109249923 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224316 109250473 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109224328 109241507 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 109224893 109250473 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109228436 109241134 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 109228437 109245613 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 109229542 109237100 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 109229542 109237100 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 109230336 109240210 Deletion Cancer ultra-high resolution array CGH 21272361 chr7 109237100 110264555 LOH Normal High-resolution SNP genotyping 21211785 chr7 109239955 119526839 LOH Normal High-resolution SNP genotyping 21211785 chr7 109256580 109256680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109318919 109319019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 109335669 109432371 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 109357547 109506183 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 10939609 10946305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 10939609 10946305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 109480934 109481003 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 109555470 109559173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 109578966 109579054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109584512 109584612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109658806 109658906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109754772 109790345 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 109773398 109802185 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 10980024 11175767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 10980024 11175767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 10980040 11175769 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 10980041 11175769 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 10980063 10980890 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 109876303 109876403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109897061 110796298 Amplification T-cell lymphomas Array-CGH 22341440 chr7 109897609 110755454 Gain and loss Pancreatic cancer SNP array 17952125 chr7 109937952 109938052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 109940124 109984648 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 109946485 111413000 LOH Normal High-resolution SNP genotyping 21211785 chr7 109967001 109977500 Deletion Glioma mate-paired sequence 20126413 chr7 109968661 109976660 Deletion Normal TaqMan assays 20972442 chr7 109969147 109975698 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 109969202 109975668 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 109969207 109975675 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 109970858 109972221 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr7 110025928 111055226 LOH Normal High-resolution SNP genotyping 21211785 chr7 110030843 110177415 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 110066246 110066323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110073532 110625501 LOH Normal High-resolution SNP genotyping 21211785 chr7 110090346 110948739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 110090346 110989583 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 110090346 110989583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 110102699 111259128 LOH Normal High-resolution SNP genotyping 21211785 chr7 110117249 110381800 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 11012551 11013028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 110155033 110165396 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 110172418 110173175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 110229749 111524463 LOH Normal High-resolution SNP genotyping 21211785 chr7 110243837 110243897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110271986 110878924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 110301347 110301445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110303109 111202538 Duplication Autism quantitative multiplex PCR 19401682 chr7 110319410 110319482 Gain and loss Pancreatic cancer SNP array 17952125 chr7 110321912 111215518 LOH Normal High-resolution SNP genotyping 21211785 chr7 110323770 110323946 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 110323777 110323953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 110325134 110359411 Gain and loss Pancreatic cancer SNP array 17952125 chr7 110325134 110359413 Amplification T-cell lymphomas Array-CGH 22341440 chr7 110329920 110330245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 110343291 110343364 Gain and loss Pancreatic cancer SNP array 17952125 chr7 110354205 110694031 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 110355610 110355689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 110368394 111215518 LOH Normal High-resolution SNP genotyping 21211785 chr7 110381300 110851860 Deletion Dyslexia Array CGH 22102821 chr7 110394862 110559484 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 110411027 110428445 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 110459418 110459518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110462178 110821240 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 110481501 110481601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110484533 110484745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110484631 110484744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110484799 110484939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110512695 110512767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 110518298 110552743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 110518298 110552743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 110518419 110552743 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 110533844 110567707 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 110536576 110536649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 110555831 110620072 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 110557017 110557117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110562363 110745564 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 110599175 110821240 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 110599175 110898776 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 110611285 110634039 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 110645384 110645890 Gain and loss Pancreatic cancer SNP array 17952125 chr7 110647394 110647494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110649988 110650106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110653829 110653897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110666148 110666248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110667778 110667877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110672863 110923287 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 110719406 110771620 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 110719406 110900827 Loss,gain Normal Birdsuite, version 1.5.2 22087296 chr7 1 107400000 Gain Basal cell lymphoma CGH 17170743 chr7 110771620 110772691 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 110772691 110824661 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 110790275 110790365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11080374 11114069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 110811663 110960590 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 110819451 111160998 Copy number Lung cancer paired-end sequencing 18438408 chr7 110823027 110830346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 110824661 110829591 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 110829591 110900827 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 110832065 110832165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 110835422 110870660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 110835815 110867477 Loss Autism LR 20531469 chr7 110838669 110839175 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 110841208 110856507 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 110850000 111310000 Gain Breast cancer aCGH 21509527 chr7 110850701 110856500 Deletion Glioma mate-paired sequence 20126413 chr7 110852568 110854496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 110865212 111347283 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 110865212 112928544 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 110879714 110924988 Loss Autism qPCR 20531469 chr7 110881190 110901813 Loss Normal 244K array 17666407 chr7 110955962 111073056 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 110960119 111238138 Gain and loss Pancreatic cancer SNP array 17952125 chr7 110962281 111238137 Amplification T-cell lymphomas Array-CGH 22341440 chr7 110993031 111098230 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 111014960 111043865 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 111017480 111053368 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 111022234 111066919 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 111041701 112180200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 1110501 1241000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 111065681 111454179 Gain Autism - 20841430 chr7 111080418 111133530 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 111112853 111265262 Loss Autism Inheritance 20685689 chr7 111153399 111633698 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 111153404 111431423 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 111153404 111431423 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 111153404 111431423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11117201 12440046 Gain Autism Exome sequencing and CGH 22495309 chr7 111175104 128202236 Copy number Lung cancer paired-end sequencing 18438408 chr7 111187687 111187771 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111215623 111215691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111233274 111467884 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-561K arrays 21546498 chr7 11132317 11132417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 11326655 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr7 111366164 111846462 Amplificationlication Glioblastoma multiforme Affymetrix SNP array 6.0, Illumina HumanHap550,Agilent CGH array 244A 20824129 chr7 111366164 111846462 Duplication Autism quantitative multiplex PCR 19401682 chr7 111380944 111381056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111380972 111381056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111428079 111428379 Loss Chordoma References 21215367 chr7 11143952 54332606 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 111440594 111577035 Amplification T-cell lymphomas Array-CGH 22341440 chr7 111440594 111577035 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111493767 111493848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111493861 111494019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 111497669 111497755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111522629 111522957 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111522629 111522958 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111530801 111661700 Deletion Glioma mate-paired sequence 20126413 chr7 111537819 111537904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111546079 111591216 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 111554401 111554501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111571469 112735841 LOH Normal High-resolution SNP genotyping 21211785 chr7 111582028 111582128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111583185 112179115 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 111592579 111601802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 111608257 111608324 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111609509 111609576 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111632501 111634500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 111632965 111633064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111633879 111770320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 111633879 111771216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 111633879 111771216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111639939 111640025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111653357 111789489 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 chr7 111684481 111710191 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111684485 111709734 Amplification T-cell lymphomas Array-CGH 22341440 chr7 111714997 111724893 Amplification T-cell lymphomas Array-CGH 22341440 chr7 111714997 111724893 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111715170 111715248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 111715914 111716243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111731619 111747336 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 111776189 112977114 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr7 111796671 111796771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111801542 111801609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111802794 111802861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11180765 11185511 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 111818034 111818134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111831490 111831564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111840119 111840151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111850462 111903480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 111850462 111903480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111863015 111892940 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 11187502 11449554 Gain and loss Pancreatic cancer SNP array 17952125 chr7 111876430 111877430 Loss Chordoma References 21215367 chr7 111877751 111903480 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 111878644 111878844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111878842 111879088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111908282 111918171 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 111908282 111918171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 111908282 111918171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111929006 111929080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111947758 111948777 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 111947758 111948777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 111975601 111975701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 111999738 112024399 Gain and loss Pancreatic cancer SNP array 17952125 chr7 11200000 53900000 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr7 11200000 53900000 Copy number Squamous cell cancer aCGH 20885788 chr7 11200000 53900000 Gain Breast cancer - 16397240 chr7 11200000 53900000 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 chr7 11200000 53900000 Gain Non-small cell lung cancer dChip 21829676 chr7 112039376 112084962 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 112053154 112173883 Gain and loss Pancreatic cancer SNP array 17952125 chr7 112078181 112115748 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 112086078 112362579 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 112086745 112086810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112096428 112126838 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 112116665 112117613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 112126838 112165439 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 112137146 112137246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112165439 112232697 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 112180201 113951200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 112193022 112217714 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 112193032 112217714 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 112193032 112217714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 112193032 112217714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 112225870 112261153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 112246439 112367168 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 112246439 112367168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 112246439 112367168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 112256621 112285898 Gain and loss Pancreatic cancer SNP array 17952125 chr7 112287221 112287970 Gain and loss Pancreatic cancer SNP array 17952125 chr7 112289651 112315593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 112292247 112293247 Gain Chordoma References 21215367 chr7 112301356 112305297 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 112314419 112321730 Gain and loss Pancreatic cancer SNP array 17952125 chr7 112384131 112384203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112391223 113391208 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 112422535 112422635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112474472 112506994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 11247679 11247779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112496911 112497006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112507704 112515015 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 112507704 112515015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 112507704 112515015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 112516676 112543050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 112544018 112545845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 112544018 112545845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 112544018 112545873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 112636888 112636988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11263833 11264687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 112643401 112643501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11266576 11274613 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 112844222 112845222 Loss Chordoma References 21215367 chr7 112844946 112845046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112878363 112878693 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 112914675 112914775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112937882 112937933 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 112942147 112942247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 112983283 113391208 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 113004508 113017796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 113004636 113031323 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 113008126 113017219 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 113008703 113017147 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 113009147 113040794 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 113037047 113216830 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 113091589 113091689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113108337 113153015 Gain and loss Pancreatic cancer SNP array 17952125 chr7 113164399 113164493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113201301 113211400 Deletion Glioma mate-paired sequence 20126413 chr7 113203398 113209443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 113220076 113528731 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 11322038 11322138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113221870 113221970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1132701 1136800 Deletion Glioma mate-paired sequence 20126413 chr7 113301622 113346300 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 113301622 113346300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 113301622 113346300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 113304117 113346318 Copy number Lung cancer - 20668451 chr7 113304117 113346318 Gain or loss Breast cancer - 20668451 chr7 113304117 113346318 Gain or loss Cancer - 20668451 chr7 113304117 113346318 Gain or loss Lung cancer - 20668451 chr7 113304117 113346318 Gain or loss Ovarian cancer - 20668451 chr7 113304117 113346318 Gain or loss Pancreas cancer - 20668451 chr7 113304117 113346318 Gain or loss Prostate cancer - 20668451 chr7 113346096 113346196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113375908 113376002 Gain and loss Pancreatic cancer SNP array 17952125 chr7 113422949 113423049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113439621 113476478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 113489353 113489453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113505558 113505648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113569193 113569287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 113594640 113594730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1136145 1149270 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 113649003 113923934 Gain and loss Pancreatic cancer SNP array 17952125 chr7 11365742 11365842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11366696 11366796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113706396 113706496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113724403 113724719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 113736397 113736484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 113740744 113741054 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 11376588 11838349 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 113780852 113813378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 11380695 11838349 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 11380695 11838349 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 11380695 11838349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 113841565 114121063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 113841565 114121063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 113842288 114121063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 113843696 113859679 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 chr7 113847791 113847911 Gain and loss Pancreatic cancer SNP array 17952125 chr7 113847793 113847912 Gain and loss Pancreatic cancer SNP array 17952125 chr7 114031356 114031456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114041078 114041197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11406590 12318512 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 114156160 114253207 Gain and loss Pancreatic cancer SNP array 17952125 chr7 114212895 114222627 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 114227439 120213327 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 114230945 114231045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114236613 114236847 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 1142406 1142494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114280449 114280549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114349444 114447206 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 114349445 114446501 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 114349445 114446501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 114349445 114446501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 114353063 114354063 Gain Cancer Human 24 color M-FISH 21215367 chr7 114353063 114354063 Gain Chordoma References 21215367 chr7 114400000 117200000 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 chr7 114400000 117200000 Amplification Lung cancer aCGH 21911935 chr7 114400000 117200000 Amplification Normal - 22101487 chr7 114400000 117200000 Copy number Normal - 21701786 chr7 114400000 117200000 Copy number Squamous cell cancer aCGH 20885788 chr7 114400000 117200000 Gain Glioblastoma multiforme aCGH 21080181 chr7 114400000 117200000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 114400000 120900000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 114400000 123600000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 chr7 114409936 114410936 Gain Chordoma References 21215367 chr7 114437594 114438835 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 114441901 114441998 Gain and loss Pancreatic cancer SNP array 17952125 chr7 114441901 114442001 Gain and loss Pancreatic cancer SNP array 17952125 chr7 114446138 114446238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114454235 115985367 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr7 114475242 114475397 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 114476662 115019710 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 114488081 114488381 Gain Chordoma References 21215367 chr7 114563765 114564510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 114600000 117400000 Amplification Colorectal cancer GISTIC software 19359472 chr7 114600000 117400000 Gain Sudden cardiac death CGH 19188705 chr7 114600000 129200000 Amplification Hepatocellular carcinoma FISH 16785998 chr7 114635184 114635286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 114728591 114728664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114752858 114752958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114791242 114791342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11480577 11480677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114812766 114813066 Gain Chordoma References 21215367 chr7 114815320 114815446 Gain and loss Pancreatic cancer SNP array 17952125 chr7 114815320 114815447 Gain and loss Pancreatic cancer SNP array 17952125 chr7 114863080 114863129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 149500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 114956473 114956547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 114956591 114956795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1149701 1155700 Deletion Glioma mate-paired sequence 20126413 chr7 115008605 115008732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 115019242 116128724 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 115037444 115076855 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 115056235 115076855 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 115067279 115067378 Gain and loss Pancreatic cancer SNP array 17952125 chr7 115067280 115067377 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1151591 1154180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 11516699 11516799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115173959 115264749 Gain and loss Pancreatic cancer SNP array 17952125 chr7 11519836 11519936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115256842 115256942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115260562 115260663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11527615 11527845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 115301055 115302055 Loss Chordoma References 21215367 chr7 115301916 115315972 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 115321661 115323188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 115362448 115458103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 115362448 115458103 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 115362448 115458103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 115370000 115370300 Loss Chordoma References 21215367 chr7 115370689 115370693 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 115370693 115373670 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 115370801 115375035 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 115373670 115389179 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 115373670 115783512 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 115417276 115417376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115429153 115429253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115444532 115492786 Gain and loss Pancreatic cancer SNP array 17952125 chr7 115511969 115546984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 115550150 115550250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115567167 115567199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115637817 115686071 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 115637857 115686071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 115637857 115686071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 115650270 115686073 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 115674745 115674845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115707694 115707726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115717141 115988466 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr7 115717141 115988466 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr7 115717141 115988466 Gain or loss Breast cancer - 20668451 chr7 115717141 115988466 Gain or loss Cancer - 20668451 chr7 115717141 115988466 Gain or loss Lung cancer - 20668451 chr7 115717141 115988466 Gain or loss Ovarian cancer - 20668451 chr7 115717141 115988466 Gain or loss Pancreas cancer - 20668451 chr7 115717141 115988466 Gain or loss Prostate cancer - 20668451 chr7 115718877 115728484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 115733395 115742545 Gain and loss Pancreatic cancer SNP array 17952125 chr7 115754566 115754666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115758790 115795181 Gain and loss Pancreatic cancer SNP array 17952125 chr7 115773145 115773234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1157814 1158257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 115789077 115789127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115813000 116895000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr7 1158233 1166340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1158233 1166340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 115865021 115865231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115865258 115865408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115866961 115990899 Amplification or deletion Cancer Array CGH 17440070 chr7 115870334 115870412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115876063 115905594 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 1 158821424 Amplification Thyroid cancer FISH 19087340 chr7 1 158821424 Deletion Autism - 19415332 chr7 1 158821424 Deletion,duplication Normal Affymetrix 250K SNP array 21412953 chr7 1 158821424 Gain Esophageal squamous carcinoma CGH 21637470 chr7 1 158821424 Gain Ewing's sarcoma Karyotyping and CGH(Reference) 21437220 chr7 1 158821424 Gain Glioblastoma multiforme aCGH 21080181 chr7 1 158821424 Gain Medulloblastoma SNP arrays 21979893 chr7 1 158821424 Gain Normal - 20616218 chr7 1 158821424 Gain Normal - 21541734 chr7 1 158821424 Gain Pleomorphic xanthoastrocytoma SNP array 20730472 chr7 1 158821424 Gain Seminomas CGH, Comparative expressed sequence hybridisation 18059402 chr7 1 158821424 Gain T-cell lymphomas 250k GeneChip SNP array 19863542 chr7 1 158821424 Gain Testicular cancer CGH, Comparative expressed sequence hybridisation 18059402 chr7 1 158821424 Indels Malaria PCR,Delta Delta Ct 21533027 chr7 1 158821424 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 1 158821424 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-550K arrays 21546498 chr7 1 158821424 Trisomy Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 chr7 115895859 115914037 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 115897149 115912408 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 115906410 116032390 Gain and loss Pancreatic cancer SNP array 17952125 chr7 115908829 115908929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 159138663 Copy number head and neck squamous cell carcinoma FISH 19289630 chr7 115918829 117211096 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 115926532 115935830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 115926680 115935830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 115926680 115935830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 115943244 115943344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 115952075 115988466 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 115952075 115988469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 115952075 115988469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 115964911 115964971 Gain and loss Pancreatic cancer SNP array 17952125 chr7 115981465 116676953 Amplification Cancer Affymetrix 250K Sty array 20164920 chr7 115987034 116178774 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr7 115987536 115988536 Gain Chordoma References 21215367 chr7 11603534 11615739 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 116087004 116114245 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 116096514 116153263 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116099682 116225676 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116099682 116225676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 116099682 116225676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116101460 116366278 Amplification Normal GISTIC2.0 21527027 chr7 116119258 116119558 Loss Chordoma References 21215367 chr7 116119408 116120408 Loss Cancer Human 24 color M-FISH 21215367 chr7 116121388 116128528 Amplification Normal Arbitrated Peel-off 21527027 chr7 116121388 116128528 Amplification Normal Standard peel-off 21527027 chr7 116143895 116143969 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116150154 116150238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116164838 116201238 Amplification Prostate cancer aCGH 22341455 chr7 116178330 116178419 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116182866 116182966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116183716 116183816 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116187342 116464106 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116191191 116196818 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 116216042 116216142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1162263 1162751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 116238359 116346549 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 11626498 11810017 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 116284949 116285049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116289798 116346549 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 116289799 116346548 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116289799 116346548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 116289799 116346548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116300744 116303666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116312458 116438439 Amplification Clear cell adenocarcinoma Double In Situ Hybridization 21983935 chr7 116312458 116438439 Amplification Gastric cancer Agilent 244K array-CGH 21097718 chr7 116312458 116438439 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 116312458 116438439 Amplification Prostate cancer aCGH 22341455 chr7 116312458 116438439 Copy number Adenocarcinoma BenchMark XT automated slide processing system 21983935 chr7 116312458 116438439 Gain Lung cancer Qiagen OneStep Reverse Transcription PCR 21062933 chr7 116337180 116337254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116371592 116371704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116371615 116371704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116379736 116381624 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 116380528 116657393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 116380528 116657393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116380617 116657393 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116381189 116395864 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116381189 116395864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 116381189 116395864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116393136 116394762 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116399455 116400201 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116399455 116400201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116409580 116409680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116419172 116464521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 116425872 116425972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11645158 11645258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116502562 116559312 Amplification Prostate cancer aCGH 22341455 chr7 116511233 116557294 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116574542 116895535 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-567K arrays 21546498 chr7 116593380 116870076 Amplification Prostate cancer aCGH 22341455 chr7 116597227 116661494 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116614422 117234990 LOH Normal High-resolution SNP genotyping 21211785 chr7 116614838 116615030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116629240 116629550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 116658528 116658617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116669673 116669762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116690105 116692189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116690815 116691132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116691152 116691684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116691683 116691820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116704517 116750579 Gain or loss Breast cancer - 20668451 chr7 116704517 116750579 Gain or loss Cancer - 20668451 chr7 116704517 116750579 Gain or loss Lung cancer - 20668451 chr7 116704517 116750579 Gain or loss Ovarian cancer - 20668451 chr7 116704517 116750579 Gain or loss Pancreas cancer - 20668451 chr7 116704517 116750579 Gain or loss Prostate cancer - 20668451 chr7 116704518 116750579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116704518 116750579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 116704518 116750579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116704992 119445846 LOH Normal High-resolution SNP genotyping 21211785 chr7 116705674 117284626 LOH Normal High-resolution SNP genotyping 21211785 chr7 116713968 116902666 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116715954 117282150 LOH Normal High-resolution SNP genotyping 21211785 chr7 116735510 116735578 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116751691 116751791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116761720 116761862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116790512 116854779 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116790512 116854779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 116790512 116854779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11682179 11701075 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116844469 119531247 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 116866609 116898926 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 116867272 116868070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11687589 11725690 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 116882174 116882269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116907252 117095954 Deletion Congenital bilateral absence of the vas deferens PCR 16973827 chr7 116907252 117095954 Deletion Cystic fibrosis QMPSF 16493442 chr7 116907252 117095954 Deletion Cystic fibrosis SQF PCR 19324987 chr7 116907252 117095954 Genomic rearrangement Congenital bilateral absence of the vas deferens SQF-PCR 17448246 chr7 116907253 117095955 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 116907253 117095955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 116907253 117095955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116915027 116915219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 116944659 117107512 Gain and loss Pancreatic cancer SNP array 17952125 chr7 116946595 116946692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 116966647 116966747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11696853 11696953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11699951 11740042 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 11700479 11882659 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 117011000 147281000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr7 11701344 11740042 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 117013497 117013706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11701879 11725690 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 117054549 117089336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 117111731 117142783 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 117137944 117300797 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 117137944 117300797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 117137944 117300797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 117170814 118949288 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 117200000 120900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 117200000 120900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 117200000 120900000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr7 117200000 126900000 Copy number Normal - 21701786 chr7 11720901 11809763 Deletion Rett syndrome References 21593744 chr7 117232490 118939993 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 117310149 117310965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 117356107 117356207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 117356251 117356444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 117362422 117387428 Loss Normal 244K array 17666407 chr7 117384907 117936421 LOH Normal High-resolution SNP genotyping 21211785 chr7 117389174 117389440 Gain and loss Pancreatic cancer SNP array 17952125 chr7 117413610 117413704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 117418170 117426829 Gain and loss Pancreatic cancer SNP array 17952125 chr7 117427198 117460687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 117440947 117441247 Gain Chordoma References 21215367 chr7 117458902 117476692 Gain and loss Pancreatic cancer SNP array 17952125 chr7 117472691 117472791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 117497481 118011341 LOH Normal High-resolution SNP genotyping 21211785 chr7 117500980 118139943 LOH Normal High-resolution SNP genotyping 21211785 chr7 1 175333 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 1 175333 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 117611322 117620114 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 117611322 117620114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 117611322 117620114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 117628494 118756206 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 117651953 117669977 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 117651953 117669977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 117651953 117669977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 117681187 117681488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 117711123 117812999 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 117718516 117772780 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 117745562 117745657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11779371 11779429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 117839923 117852967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 117872972 117873072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 117889789 117889884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 117913629 117913681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 117922977 117948608 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 117939595 117939895 Gain Chordoma References 21215367 chr7 118000000 122000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 chr7 118017901 118018001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118045795 118080570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 118076672 118076772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118083120 118083311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118083333 118083433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118117178 118117278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118131037 118131391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 118135823 120112741 LOH Normal High-resolution SNP genotyping 21211785 chr7 118141668 118142668 Gain Chordoma References 21215367 chr7 118146114 118146214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11816641 11843258 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 118169946 118178464 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 118229449 118229549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118254869 118254969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118260884 118261884 Gain Chordoma References 21215367 chr7 11826468 11827445 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11838133 11838233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118389152 118389302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118398653 118435536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 118399268 120889294 LOH Normal High-resolution SNP genotyping 21211785 chr7 118401411 120889294 LOH Normal High-resolution SNP genotyping 21211785 chr7 11842330 11845116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 118457338 118481561 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 118463372 120386509 LOH Normal High-resolution SNP genotyping 21211785 chr7 118479927 118481573 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 118505191 118577155 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 118520842 118520890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118523318 118523418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11853187 12368187 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr7 118533955 118534955 Gain Chordoma References 21215367 chr7 118579303 118579403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 118616701 118624000 Deletion Glioma mate-paired sequence 20126413 chr7 118618484 118621978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 118618484 118621991 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 118658309 121189635 LOH Normal High-resolution SNP genotyping 21211785 chr7 11874451 11874551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 189048 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 118941121 118949781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 118943747 118957329 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 118943991 118983592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 119015304 119023295 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 119015497 119015873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 119037083 119037183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 119040139 119063712 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 11904213 11939607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 119077787 119077887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11913025 11913471 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 119133266 119177221 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 11921100 15152977 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 119239880 119240106 Gain and loss Pancreatic cancer SNP array 17952125 chr7 119239984 119240106 Gain and loss Pancreatic cancer SNP array 17952125 chr7 119256440 119929249 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 119361271 120424478 LOH Normal High-resolution SNP genotyping 21211785 chr7 119361978 119362078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 119396 298664 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 119433224 119433391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 119467023 119499425 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 119504898 119530790 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 119508638 119981863 Gain and loss Pancreatic cancer SNP array 17952125 chr7 119515383 120640843 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 119526839 119584934 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 119526839 119584934 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 119558034 119558139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 119579999 119611894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 119584934 126003436 LOH Normal High-resolution SNP genotyping 21211785 chr7 119623081 119623156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 11969832 11977098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 119701923 120177623 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 119701923 120177623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 119701923 120177623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 11981156 11981256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 119836543 119837543 Loss Chordoma References 21215367 chr7 119902489 119902589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 119906872 119906977 Gain and loss Pancreatic cancer SNP array 17952125 chr7 11990729 11990997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 11990756 11991024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 119916503 119916603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 119943736 119943836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 119974216 119974316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 119976170 119976470 Loss Chordoma References 21215367 chr7 119976320 119977320 Loss Cancer Human 24 color M-FISH 21215367 chr7 119982844 120019929 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 120000000 131500000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr7 120021327 120092128 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120061542 120107423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 120077487 120078608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 120100157 120100262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120135630 120956285 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 120160129 120386509 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 120184768 120209662 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120214612 120285413 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 120214612 120285413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 120214612 120285413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120215458 120215554 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120215460 120215558 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120218175 121185675 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 120218473 121187729 Deletion small cell lung cancer array-CGH 20016488 chr7 120222747 120531445 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12024164 12050125 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12024166 12050126 Deletion T-cell lymphomas Array-CGH 22341440 chr7 12025228 12025551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 120260482 120260582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120281809 120313810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 120309068 120309168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120317733 120317824 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120378052 120402947 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 120378052 120402947 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 120378053 120402938 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 120378053 120402938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 120378053 120402938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120408734 120408843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120415987 120724730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 120415987 120724730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120416032 120724730 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 120416680 120689208 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 120428953 120429062 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120430000 127860000 Loss Breast cancer aCGH 21509527 chr7 120510990 120511103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120519272 120519328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120547415 120547515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120554249 120554349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120557364 120557464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120559372 120575108 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120582858 120630292 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120592000 130192000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr7 120622238 120622347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120632438 120632763 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120668333 120668670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 120674839 120675269 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120705183 120705283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120747571 120747666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120752656 120768394 Gain or loss Breast cancer - 20668451 chr7 120752656 120768394 Gain or loss Cancer - 20668451 chr7 120752656 120768394 Gain or loss Lung cancer - 20668451 chr7 120752656 120768394 Gain or loss Ovarian cancer - 20668451 chr7 120752656 120768394 Gain or loss Pancreas cancer - 20668451 chr7 120752656 120768394 Gain or loss Prostate cancer - 20668451 chr7 120752657 120768393 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 120752657 120768393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 120752657 120768393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120756325 120768394 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 120776140 120823658 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 120776140 120823658 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 120776143 120823658 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 120776143 120823658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 120776143 120823658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120825744 120826060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 120840000 124540000 Gain Breast cancer aCGH 21509527 chr7 120847107 120869296 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 120849583 120849742 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 120871737 120871837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120888651 120888778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120900000 123600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 120900000 123600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 120900000 123600000 Loss Barrett's adenocarcinoma FISH 18663352 chr7 120900000 123600000 Loss Splenic marginal zone lymphoma 44k aCGH 18492102 chr7 120900000 158821424 Gain Glioblastoma multiforme aCGH 21080181 chr7 120912141 120912229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 120970448 120970716 Gain and loss Pancreatic cancer SNP array 17952125 chr7 120986782 120986882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 2100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 1 2100000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr7 1 2100000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr7 1 2100000 Gain Disorders of sex development oligo V5.0 21048976 chr7 1 2100000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 1 2100000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr7 1 2100000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr7 121001959 121002044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 121054665 128252690 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 121100000 123800000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 chr7 121107358 121296039 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121159237 121159337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121163733 121164001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 121190667 127887795 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 121230788 121230872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121300395 121489324 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 121300395 121489324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 121300395 121489324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 121310138 121378219 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121315724 121315786 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121353313 121353613 Loss Chordoma References 21215367 chr7 121394374 121394474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121419374 121419464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121436419 121436519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12143749 12252294 Deletion T-cell lymphomas Array-CGH 22341440 chr7 12143751 12183258 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121448166 121493308 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 121468536 121468912 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121468588 121468816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 121468595 121468823 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 121503423 121571504 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 121503423 121571504 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 121503423 121571504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 121509256 121509356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121513158 121702088 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 121522170 121587629 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 121536110 121538442 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121538088 121582545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 121553331 122120465 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121614819 121615819 Gain Chordoma References 21215367 chr7 121651250 121651350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121661821 121662197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 121700000 123900000 Loss Acute lymphoblastic leukemia - 21339820 chr7 121707133 121707233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121727001 121734500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 121728684 121731727 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 121728684 121731727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 121728684 121731727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 121745713 122313790 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 121745717 122313790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 121745717 122313790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 121746616 122313627 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 121749257 121749350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121794464 121794554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121796347 122214141 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 121839760 121914025 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 121866153 121867153 Gain Chordoma References 21215367 chr7 121895041 121895141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12190430 12216771 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121915295 121915723 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12192615 12192709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121931793 121932923 Gain and loss Pancreatic cancer SNP array 17952125 chr7 121934055 122055870 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 121950504 121950589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 121956942 121957014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122017986 122018086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122108583 122109016 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 122125078 122126208 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 122125078 122126208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 122125078 122126208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 122131301 122131373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122162851 122330026 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 12217372 12243414 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 12217449 12243411 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 12217449 12243411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12217450 12243408 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 122178076 122178176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122179218 122179269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 122218832 122218932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122228764 122229639 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122230308 122230408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122261711 122296190 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 12234020 12334355 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 122347540 122433976 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122364506 122364506 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 chr7 122364506 122364506 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr7 122373563 122373761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122390016 122390100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122408422 122408722 Gain Chordoma References 21215367 chr7 122408596 122408896 Gain Chordoma References 21215367 chr7 122416734 122926183 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 122422049 122422924 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 122422049 122422924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 122422049 122422924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12242314 12242693 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 122426937 122427037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122443100 122443200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12246164 12246555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12248229 12248551 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 122486919 122487019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122540825 122627261 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 122540825 122627261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 122540825 122627261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 122567376 122567463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122594916 122797252 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 122617539 122618539 Loss Chordoma References 21215367 chr7 122686663 122768594 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122691996 122692099 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122775034 122791909 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122806417 123923504 LOH Normal High-resolution SNP genotyping 21211785 chr7 122814203 122814303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122826271 122826710 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122835872 122871883 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12284552 12285438 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122879200 122879300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122879950 122961879 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 122879950 122961879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 122879950 122961879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 122880362 122880450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 122885278 122885384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 122889873 122896045 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122894375 122894472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 122896231 122897211 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122915956 122983067 Gain and loss Pancreatic cancer SNP array 17952125 chr7 122968319 122985194 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 122968319 122985194 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 122968319 122985194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123024103 123025103 Loss Chordoma References 21215367 chr7 123024610 123024716 Gain and loss Pancreatic cancer SNP array 17952125 chr7 123024612 123024716 Gain and loss Pancreatic cancer SNP array 17952125 chr7 123034011 123657060 LOH Normal High-resolution SNP genotyping 21211785 chr7 123036348 123065168 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 123036348 123065168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 123036348 123065168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123042196 123657060 LOH Normal High-resolution SNP genotyping 21211785 chr7 123054624 123054724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123057141 123064449 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr7 123083097 123106332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123083155 123106332 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 123102279 123111160 Gain and loss Pancreatic cancer SNP array 17952125 chr7 123109237 123176352 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 123109237 123176352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 123109237 123176352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123183871 123204253 Gain and loss Pancreatic cancer SNP array 17952125 chr7 123187824 135781019 Deletion Acute myeloid leukemia - 21251322 chr7 123200 123279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123217895 123218001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12322666 12322876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 123237151 123237251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123252578 126117199 Microdeletion Epilepsy HumanHap 550K, and HumanHap 317K 21635232 chr7 123266072 123266923 Gain and loss Pancreatic cancer SNP array 17952125 chr7 123272456 123304765 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 123272456 123304765 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 123272456 123304765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123278192 123278242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123352565 123398695 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 123352565 123398695 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 123352565 123398695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123360502 123360602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12337035 12376543 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 12337036 12376543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 12337036 12376543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123390569 130077537 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr7 123424165 123424495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 123498899 126320353 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 12354103 12354203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123551428 123551528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123600000 126900000 Copy number Normal - 21701786 chr7 123600000 126900000 Copy number Squamous cell cancer aCGH 20885788 chr7 123600000 126900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 123600000 126900000 Loss Diffuse large b-cell lymphoma QMPSF assay 18287131 chr7 123600000 158821424 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 123600000 158821424 Loss Glioblastoma multiforme aCGH 21080181 chr7 123632750 123973069 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 12364167 12364249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123660321 123660421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123687423 123688423 Gain Chordoma References 21215367 chr7 123687797 123688797 Loss Chordoma References 21215367 chr7 123700000 158821424 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr7 123700752 123700847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123710376 123710960 Gain and loss Pancreatic cancer SNP array 17952125 chr7 123714529 123715397 Gain and loss Pancreatic cancer SNP array 17952125 chr7 123726056 123726131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123800000 155100000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 chr7 12383443 12465969 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12383715 12410056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12385929 12386023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 123881724 123881827 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1239035 1243488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1239035 1243488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123903661 123904245 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 123907814 123908682 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 123907814 123908682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 123980067 123999632 Gain and loss Pancreatic cancer SNP array 17952125 chr7 123983265 123983365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124027796 124027896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1240453 2240453 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 124052251 124052351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124057925 124163825 Gain and loss Pancreatic cancer SNP array 17952125 chr7 124067402 124444593 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 124075009 124075112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1241001 1325000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 1241356 1272350 Gain and loss Pancreatic cancer SNP array 17952125 chr7 124152739 124153758 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 124173120 124173220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124173349 124192917 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 124173349 124192917 Copy number Lung cancer - 20668451 chr7 124173349 124192917 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr7 124173349 124192917 Gain or loss Breast cancer - 20668451 chr7 124173349 124192917 Gain or loss Cancer - 20668451 chr7 124173349 124192917 Gain or loss Lung cancer - 20668451 chr7 124173349 124192917 Gain or loss Ovarian cancer - 20668451 chr7 124173349 124192917 Gain or loss Pancreas cancer - 20668451 chr7 124173349 124192917 Gain or loss Prostate cancer - 20668451 chr7 124173352 124192917 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 124173352 124192917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 124173352 124192917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 124191501 124193000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 124193638 124193738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124219623 124220623 Gain Chordoma References 21215367 chr7 124225398 124226398 Gain Chordoma References 21215367 chr7 124249675 124357273 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 124249677 124357273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 124249677 124357273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 124273886 124274034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 124355725 124356025 Loss Chordoma References 21215367 chr7 124358525 124390653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 124382159 124382259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124430497 124430597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124462440 124570037 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 124516547 124516647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124534509 124534883 Gain and loss Pancreatic cancer SNP array 17952125 chr7 124570222 124570287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 124579789 124580206 Gain and loss Pancreatic cancer SNP array 17952125 chr7 124592804 124593025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124592926 124593026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124593013 124593188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124593018 124593118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124657309 124657378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 124677408 125145741 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 124680669 124683921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 124704649 125897087 LOH Normal High-resolution SNP genotyping 21211785 chr7 124715937 125509626 LOH Normal High-resolution SNP genotyping 21211785 chr7 124717931 125504626 LOH Normal High-resolution SNP genotyping 21211785 chr7 124727794 124728168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1 247284 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 124752465 125591197 Deletion Autism Illumina HumanHap554 BeadChip 20858243 chr7 12477503 12478696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 124797117 124798117 Gain Chordoma References 21215367 chr7 124806510 124806787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 12483083 12531416 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 12483083 12531416 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 124877390 125509626 LOH Normal High-resolution SNP genotyping 21211785 chr7 1 24900000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 1 24900000 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr7 1 24900000 Loss Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 chr7 124918640 124919640 Gain Chordoma References 21215367 chr7 124955573 124969671 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 124968770 125004097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 12497339 12498074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 124986086 125562919 LOH Normal High-resolution SNP genotyping 21211785 chr7 124996 292633 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr7 12499756 12503799 Gain and loss Pancreatic cancer SNP array 17952125 chr7 125028823 125028923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125041149 125069599 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 125052332 125052662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 125094174 125095174 Gain Chordoma References 21215367 chr7 12512158 12513629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12513623 12513754 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12513626 12513754 Gain and loss Pancreatic cancer SNP array 17952125 chr7 125165370 125337301 Loss Normal 244K array 17666407 chr7 125184177 125184263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12519871 12521076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 125203558 125203658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125243153 127266866 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr7 125251076 125251153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125254725 127347157 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 125254760 125416405 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 125258275 125258375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125259935 125521625 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 125323194 125488816 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 125374842 125386440 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 125380025 126631087 LOH Normal High-resolution SNP genotyping 21211785 chr7 125467519 125467590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12547572 12547662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125557249 126577301 LOH Normal High-resolution SNP genotyping 21211785 chr7 125624511 126432944 LOH Normal High-resolution SNP genotyping 21211785 chr7 125630387 125649706 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 125631251 125656442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 125634419 125669963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 125672999 126255215 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 chr7 125673124 126477209 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12576870 12659250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 12576870 12659250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 125782620 125782720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125812696 125813467 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 125831379 125834117 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 125831494 125834117 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 125832159 125832718 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 125832199 125834102 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 125832199 125834102 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 125832210 125834117 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 125832661 125838660 Deletion Normal TaqMan assays 20972442 chr7 125832706 125833839 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 125832718 125833851 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 125832718 125833851 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 125832718 125834117 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 125832718 125841634 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 125832875 125833839 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 125833074 125838139 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 125833074 125838139 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 125833123 125838683 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 125833851 125834117 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 125852968 125853058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125864272 125867674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 125865887 126680383 Copy number Lung cancer - 20668451 chr7 125865887 126680383 Gain or loss Breast cancer - 20668451 chr7 125865887 126680383 Gain or loss Cancer - 20668451 chr7 125865887 126680383 Gain or loss Lung cancer - 20668451 chr7 125865887 126680383 Gain or loss Ovarian cancer - 20668451 chr7 125865887 126680383 Gain or loss Pancreas cancer - 20668451 chr7 125865887 126680383 Gain or loss Prostate cancer - 20668451 chr7 125865888 126680584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 125865888 126680584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 125865888 126680584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 125869284 125870134 Loss Normal 244K array 17666407 chr7 125873306 125916729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 125882724 125882952 Loss Normal 244K array 17666407 chr7 125904905 125905000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125938425 125940169 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 125948846 125948946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12595672 12659753 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 125960009 125960109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 125980987 125981087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126003436 126062133 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 126010949 127627573 LOH Normal High-resolution SNP genotyping 21211785 chr7 126031027 126031127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126062133 127949959 LOH Normal High-resolution SNP genotyping 21211785 chr7 126078651 126892427 Amplification Prostate cancer aCGH 22341455 chr7 126084506 126084575 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 126088740 126271794 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 126129682 126174611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 126129980 126130080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12616404 12616504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126173430 126173530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126214972 126215329 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12621744 12621844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126261868 126261967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126296057 126297822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 126300305 127576750 LOH Normal High-resolution SNP genotyping 21211785 chr7 126301909 126340192 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 126305082 126339136 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 1263119 1356119 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr7 126316116 126316216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126382590 126569020 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 126408257 126409068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 126434357 127727900 LOH Normal High-resolution SNP genotyping 21211785 chr7 126441593 126621501 Deletion Attention deficit hyperactivity disorder - 22138692 chr7 126485378 126485474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 126517268 126665107 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 126529625 126530094 Gain and loss Pancreatic cancer SNP array 17952125 chr7 126534135 127545430 LOH Normal High-resolution SNP genotyping 21211785 chr7 126562847 126562936 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 126563413 126568650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 126577566 126594775 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 126600073 142561955 Gain Malignant melanoma BAC array CGH 17260012 chr7 126604307 126626718 Gain and loss Pancreatic cancer SNP array 17952125 chr7 126611313 126611413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126617742 126617840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126618107 126618202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126629134 126629230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126653273 127562585 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 126656367 127279907 LOH Normal High-resolution SNP genotyping 21211785 chr7 126658513 126658613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126678040 126682391 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 126683395 126684395 Gain Chordoma References 21215367 chr7 126686884 126686912 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr7 126691850 126691925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126695314 133018477 Gain Prostate cancer Array CGH 18632612 chr7 126698141 126698237 Amplification Prostate cancer aCGH 22341455 chr7 126710917 126711141 Loss Normal 244K array 17666407 chr7 126722515 126725980 Loss Normal 244K array 17666407 chr7 126722910 126723493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 126738611 126738653 Gain Normal 244K array 17666407 chr7 126740965 127618083 LOH Normal High-resolution SNP genotyping 21211785 chr7 126742800 126743009 Loss Normal 244K array 17666407 chr7 126775728 126775828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126797333 126820003 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 126797333 126820003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 126797333 126820003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12680525 12680625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126814634 126819605 Gain and loss Pancreatic cancer SNP array 17952125 chr7 126818826 126820443 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 126822410 126825704 Gain and loss Pancreatic cancer SNP array 17952125 chr7 126827640 126835794 Gain and loss Pancreatic cancer SNP array 17952125 chr7 126844297 126849933 Gain and loss Pancreatic cancer SNP array 17952125 chr7 126855501 126857000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 126858964 126889497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 126870112 126870212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 126874001 126875000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 126882753 126882828 Gain and loss Pancreatic cancer SNP array 17952125 chr7 126886185 127326609 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12689549 12689747 Gain and loss Pancreatic cancer SNP array 17952125 chr7 126900000 129000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 126900000 129000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 126900000 129000000 Loss Prostate cancer Human version 2.0 BAC arrays 17217626 chr7 126900000 129000000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr7 126900000 142800000 Copy number Coffin-Siris syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr7 126900000 158821424 Chromosomal rearrangement Papillary thyroid carcinoma References 21436994 chr7 126900000 158821424 Gain Glioblastoma multiforme conventional CGH 21080181 chr7 126904435 126904535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12693006 12697084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 12693006 12697084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 126996218 126996318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127000401 127007200 Deletion Glioma mate-paired sequence 20126413 chr7 127002206 127004930 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 127002206 127005216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 127002221 127004934 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 127007917 127012890 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 127007919 127012890 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127007919 127012890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127007919 127012890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127009501 127048500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 127010352 127032766 Amplification Prostate cancer aCGH 22341455 chr7 127015659 127018995 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127015695 127018989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127015695 127018989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127020925 127029079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127020925 127029079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127020925 127029079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127037582 127043218 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127037582 127043218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127037582 127043218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127057582 127057677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12706908 12707039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127076038 127076113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127078501 127080000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 127079437 127519346 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 127079438 127519894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127079438 127519894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127079438 127519894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127100000 130400000 Gain and amplification Multiple myeloma Array CGH 16616336 chr7 127107201 127765000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 127157625 127157657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127220681 127225653 Amplification Prostate cancer aCGH 22341455 chr7 127228516 127231751 Amplification Prostate cancer aCGH 22341455 chr7 127231513 127233395 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127233688 127241842 Amplification Prostate cancer aCGH 22341455 chr7 127250065 127250165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127250345 127255779 Amplification Prostate cancer aCGH 22341455 chr7 127258911 127292795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 127261075 127264953 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127285001 127286000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 127292201 127732658 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 127292201 127732658 Amplification Prostate cancer aCGH 22341455 chr7 12737272 127819567 Copy number Autism exome sequencing 22495311 chr7 127394015 127523254 Gain Normal 244K array 17666407 chr7 127407391 127407708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 127424914 127425345 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127424983 127425315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127429567 127429667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127441876 127441947 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127445955 127474719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 127454360 127458238 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127454360 127458238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127454360 127458238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127456001 127816000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 127475282 127491632 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12748455 12753121 Loss Normal 244K array 17666407 chr7 127509149 127509248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127521643 127521738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127538416 127538703 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127544388 127577913 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127553651 127553964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 127578087 127578147 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127579302 127579445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 127616692 127616792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127617133 127617223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127626283 127644257 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127635161 127635232 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 127635161 127635232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127664329 127664408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127668567 127684917 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127668567 127684917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127668567 127684917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127671630 127671685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127674844 127708915 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127677452 127677516 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127689896 127692421 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127710774 127736928 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127715677 127750313 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 127717293 127717380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127727781 127727881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127731701 127731988 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127737673 127771198 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127737673 127771198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127737673 127771198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127746992 127747092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127750287 127751392 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 127804291 127804693 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127807000 127829616 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 127816001 127824000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 127819568 127837272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127819568 127837272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127819568 127837542 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127824001 128126500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 127841743 127841818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127846000 127887000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 127851863 127851940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12786024 12803498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 127861178 127861280 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127863984 127864084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127883120 127885707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127883120 127885707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127883181 127885706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127883952 127885243 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127883952 127885243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127893850 127896455 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127893850 127896489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127897260 127899582 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127897875 128097399 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 127904018 127930214 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 127904019 127930187 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 127904019 127930187 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 127904019 127930187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 127931441 127931561 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127931457 127931563 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127931696 127931749 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127947925 127965616 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127949959 128068436 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 127967225 127967314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 127970000 128590000 Gain Breast cancer aCGH 21509527 chr7 127973368 128005478 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12797418 12800904 Loss Normal 244K array 17666407 chr7 127995346 127995603 Gain and loss Pancreatic cancer SNP array 17952125 chr7 127996397 128003283 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 127997576 127997978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1 2800000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 chr7 1 2800000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr7 128006498 128009802 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128026050 128056137 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128054462 128054565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128054463 128054565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128064431 128093278 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128068436 140756440 LOH Normal High-resolution SNP genotyping 21211785 chr7 128068530 128088288 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 128082933 128086234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128089691 128090285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128096448 128096765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 128096849 128099853 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128098980 128114447 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128099583 128111536 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128099583 128111536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128099583 128111536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128102835 153033231 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 128120920 128150026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 128124238 128144681 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128124729 128124846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128124981 128125034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12812548 20708156 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 128142679 128159033 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128142679 128159033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128142679 128159033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128158592 128918383 LOH Normal High-resolution SNP genotyping 21211785 chr7 128158708 128781124 LOH Normal High-resolution SNP genotyping 21211785 chr7 128164444 128800387 LOH Normal High-resolution SNP genotyping 21211785 chr7 128166653 128198763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128166653 128198763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128166672 128198763 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128171945 128184037 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12818216 12818316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128188631 128188888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128188899 128289149 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128199783 128203087 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128199783 128203087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128199783 128203087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128204739 128205033 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128216464 128362886 Copy number Lung cancer paired-end sequencing 18438408 chr7 128218784 128249419 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128218784 128249419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128218784 128249419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128226255 128228925 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 128254501 128321500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 128257718 128286564 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 128257719 128286572 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128257719 128286572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128257719 128286572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128272204 128272204 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr7 128289231 128291526 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128289741 128308213 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128289741 128308213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128290116 128293133 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128290134 128293138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128290134 128293138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128295536 128295638 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128298851 128343836 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 128298967 128371500 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 1283154 1300713 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128317236 128338009 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 128317237 128337966 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128317237 128337966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128319962 128342967 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 128321501 128372500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 128334061 128334179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128337559 128337705 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128337639 128337705 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128360637 128361659 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128365230 128377320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 128365230 128377320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128365230 128377320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128368007 128377324 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 128372501 128376500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 128377166 158821424 Copy number Lung cancer paired-end sequencing 18438408 chr7 128378661 128402622 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128382183 128482434 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 128382184 128482434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128382184 128482434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128398024 128398318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128398641 128398751 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128406023 128407352 Amplification or deletion Cancer Array CGH 17440070 chr7 128422664 128447332 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128457685 128457785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128458815 128664002 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128467567 128467667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128482515 128484529 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 128488821 128488923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128504464 128504547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128529163 128529256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128543958 158574555 Loss or gain Non-syndromic sensorineural hearing loss array CGH 18496225 chr7 128553560 128555286 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 128571946 128595907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128571946 128595907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128571947 128595907 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 128571947 128595907 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 128591926 128592038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128596465 128596565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128611622 128611654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128615948 128640621 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 128615949 128640617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128615949 128640617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128639426 128639488 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128643905 128644162 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128652100 128857287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 128652100 128857287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128668251 128722188 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128677670 129696226 Gain Bladder cancer array-CGH 21909424 chr7 128718296 128718431 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128718297 128718451 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128766616 128766680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 12882834 12883032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 12882834 12883096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128837190 128837447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128845548 128990317 Gain and loss Pancreatic cancer SNP array 17952125 chr7 128861536 128915473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128902370 128902470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128902742 128913264 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 128911581 128911738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 128928414 128930439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 128944413 128991452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 128978921 129002744 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 chr7 128981475 128981575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 128990057 128990144 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129000000 130100000 Copy number Normal - 21701786 chr7 129004174 129004283 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129008477 129008575 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129008483 129008560 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129008696 129008805 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129011243 129011886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 129018243 129019150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 129032799 129040610 Gain Normal 244K array 17666407 chr7 129038791 129184156 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129038791 129184156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129064528 129186740 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129064827 129371286 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-577K arrays 21546498 chr7 129066322 129066575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129066565 129066761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129095937 129096002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129141931 129142134 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129183342 129183456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129188484 129188583 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129188485 129188583 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129194376 129227440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 129195782 129195867 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129196501 129210000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 129197459 129197568 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 129197459 129197568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129200000 159138663 Gain Hodgkin's lymphoma Array CGH 18179710 chr7 129201768 129201845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129201981 129202090 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 129201981 129202090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129210001 129233500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 129230761 129232841 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 129252078 129285165 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129257810 129380025 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 129260231 129380025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129260231 129380025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129261068 129261155 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129261068 129261188 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12928695 12929070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1 29300000 Copy number Kartagener syndrome reference 16639409 chr7 129304318 129367544 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12932411 12944686 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 129335184 129345812 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 129335184 129360593 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 129368681 129369489 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129381769 129381870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129389065 129389152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129398495 129439197 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129410223 129410332 Copy number Ovarian cancer TaqMan miRNA Assay 18458333 chr7 129414014 129448321 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 129415040 129415140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129438737 129438822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129438821 129438889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129441669 129451448 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129445363 129478469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129445363 129478469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129454353 129454473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129497585 129560829 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129497585 129560829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129500654 129523585 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129506905 129507000 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 1295255 2651148 LOH Normal High-resolution SNP genotyping 21211785 chr7 129526944 129557964 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129553072 129553171 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129559510 129559605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129566501 129582500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 129573702 129574255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 129578210 129578307 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129578607 129602522 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129591791 129632574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129591791 129632574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129613187 129613226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129614291 129621900 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129630326 129674848 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129634954 129644733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129634954 129644733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129693939 129716870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129699764 129699864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129719997 129740084 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129720230 129751249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129720230 129751249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129729903 129729996 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129740468 129742452 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129746357 129746456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129753072 129829523 Gain and loss Pancreatic cancer SNP array 17952125 chr7 129771495 129771592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129771892 129795807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129773001 129806500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 129806501 129813000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 129807468 129815165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129807468 129815165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129823611 129868133 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129823611 129868133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129845569 129845669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129875144 129876115 Gain and loss Pancreatic cancer SNP array 17952125 chr7 12988627 12995075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 12988797 12995065 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 129913282 129933363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129913282 129933363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129918286 129918386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129923188 129923281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129927762 129927862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129933404 129935887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 129933404 129935887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129946357 130004138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 129962017 129962117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 129990279 129990353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 300000 Loss Lung squamous cell carcinoma sub-megabase resolution tiling-set rearray platform 20842114 chr7 130004043 130021946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 130004043 130021946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 130012776 130017714 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr7 130018749 130018836 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130018761 130018824 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130019473 130019553 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130068429 130069400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 130068429 130069400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 130069923 130069994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 130078078 130270796 Deletion Splenic marginal zone lymphoma FISH,BAC CGH array,Tiling CGH array,LOH analysis 21957467 chr7 130100000 132400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 130106167 130109964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 130139341 130152658 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 130142662 130241080 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 130179011 130328113 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 130186017 131611164 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 130188664 130188978 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130196900 130197005 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130196900 130197006 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130212046 130212109 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 130212046 130212109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 130212758 130212838 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 130212758 130212838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 130237152 130277798 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 130251745 130836964 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 130280033 130649715 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 130285995 130347260 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 130384606 130385005 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130390185 130390291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 130400000 132600000 Loss Gastric cancer Array CGH 16891809 chr7 130400000 152600000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr7 130437419 130599612 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr7 130465899 130465999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 130469890 130638645 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130477734 130522637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 130514382 130514441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 130572713 130572763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 130592470 130611367 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 130636332 131297954 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 130642278 130698577 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130663175 130831930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 130663175 130831930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 130663175 130831930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 130670532 130670631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 130704574 130704674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 13071223 13097078 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 130729271 130731384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 130788213 130834307 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 130794597 130825243 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 130795718 130795818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 130801668 130825243 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 130803960 130804638 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130835563 130891908 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 130835563 130891916 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 130835563 130891916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 130837001 131030000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 130895760 130896032 Gain and loss Pancreatic cancer SNP array 17952125 chr7 130902201 132141900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 130906584 130938170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 130922618 130922864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 130947956 130992917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 130997245 130997923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 131009013 131009112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131018281 131843454 LOH Normal High-resolution SNP genotyping 21211785 chr7 131044876 131047079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 131089045 131089320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1311226 1316837 Gain and loss Pancreatic cancer SNP array 17952125 chr7 131207908 131233930 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 131207908 131234993 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 131207908 131235891 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 1312413 1312736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 131269945 131370450 Gain and loss Pancreatic cancer SNP array 17952125 chr7 131271629 131271715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131315416 131315516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 13137226 13137283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 131378055 132981945 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 131390000 137550000 Loss Breast cancer aCGH 21509527 chr7 131398501 131919500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 131407537 131407687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131416638 131416738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131464993 131465529 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 131464993 131465529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 131465778 131911863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 131465778 131911863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 131465778 131983987 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 131483883 131507076 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 13149140 13223317 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 13149279 14265226 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr7 131626779 131790702 Gain and loss Pancreatic cancer SNP array 17952125 chr7 131748186 131748286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131778945 132001738 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 1 31800000 Amplification Urothelial carcinoma CGH and FISH 18382360 chr7 131845696 131845796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131850985 131851085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131859384 131859454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131867002 131869856 Gain and loss Pancreatic cancer SNP array 17952125 chr7 131892736 131892820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131895038 131895141 Gain and loss Pancreatic cancer SNP array 17952125 chr7 131895041 131895139 Gain and loss Pancreatic cancer SNP array 17952125 chr7 131896717 131896817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131900306 131900405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 131926885 132224105 Gain and loss Pancreatic cancer SNP array 17952125 chr7 131984093 132064052 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 131984093 132064052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 131984093 132064052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 132088323 132088426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 13209146 13209328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 132120164 132417373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 132120170 132417390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 132120170 132417390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 132120976 132121076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132129067 132209813 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 132129067 132242929 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 132131388 132131488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132135988 132136088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132183109 132283408 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 132213794 132240617 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 132218975 132219067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132224844 132224941 Gain and loss Pancreatic cancer SNP array 17952125 chr7 132256385 132256485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132264296 132264391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132269224 132269324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132286759 132286859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132311795 132312527 Gain and loss Pancreatic cancer SNP array 17952125 chr7 132325536 132325606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132352432 132352532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132395084 133207767 Gain and loss Pancreatic cancer SNP array 17952125 chr7 132400000 137300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 132400000 137300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 132400000 137300000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 132400000 137300000 Translocation Low-grade fibromyxoid sarcoma HumanOmni 1-Quad v 1.0 array 21536545 chr7 132400000 147500000 Copy number Breast cancer Affymetrix 16272173 chr7 132400000 147500000 Gain Myxofibrosarcoma Array CGH 16751306 chr7 132400000 147500000 Microdeletion Stuttering FISH, array-CGH 21108403 chr7 132400000 158821424 Amplification Urothelial carcinoma CGH and FISH 18382360 chr7 132400000 158821424 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr7 132418129 132418226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 13244588 13247341 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 13244637 13247239 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 132454171 132465790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 132466287 133458165 LOH Normal High-resolution SNP genotyping 21211785 chr7 132474716 132507428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 132486719 132486879 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 132498917 133690509 LOH Normal High-resolution SNP genotyping 21211785 chr7 1325001 1328000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 132512347 132512447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132564591 132564674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132564860 132564960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132588362 133401053 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr7 132588363 133401051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 132588363 133401051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 132600000 138200000 Copy number Neuroticism SNP array 17667963 chr7 132600000 159138663 Deletion Myelodysplastic syndrome 50K HindIII (50K), 250K StyI (250K), or 250K NspI+250K StyI (500K) SNP microarray chips 17634407 chr7 132600553 136630389 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 132606722 132962682 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 132635907 132636057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132639754 132639821 Gain and loss Pancreatic cancer SNP array 17952125 chr7 132652902 132652957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132727425 132769159 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 132758213 132758544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 132777729 132777829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1328001 1435000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 13282743 13282843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132833039 132833106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1328420 1328489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 132861856 133940548 LOH Normal High-resolution SNP genotyping 21211785 chr7 132937822 133750511 Duplication Autism quantitative multiplex PCR 19401682 chr7 13300000 15200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 13300000 15200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 133034788 133034873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133091206 133110836 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133094440 133281052 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 133102550 133123717 Amplification Normal Arbitrated Peel-off 21527027 chr7 133102550 133123717 Amplification Normal Standard peel-off 21527027 chr7 133104126 133104226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133169399 133596651 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 133177049 133177081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133232258 133274380 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 133240442 133260637 Loss Normal 244K array 17666407 chr7 133269360 133406188 Gain and loss Pancreatic cancer SNP array 17952125 chr7 133286743 133286843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133318329 133318970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 133349503 133349603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133356301 134697200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 133400000 138400000 Gain Acute myeloid leukemia BAC Array CGH 17237825 chr7 133423264 133446428 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 133423264 133446428 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 133423264 133449291 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 133423264 133449291 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 133428969 133435717 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 133429189 133449694 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 133429189 133449737 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 133430910 133449291 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 133430910 133449291 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 133433701 133450800 Deletion Glioma mate-paired sequence 20126413 chr7 133434170 133451074 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 133435540 133448873 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 133435541 133448555 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 133435541 133448869 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 133435705 133446162 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435705 133446193 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435705 133446369 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435705 133448637 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435705 133449086 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435705 133449374 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435705 133449725 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435705 133465973 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435706 133437673 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 133435706 133449070 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 133435717 133435734 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 133435723 133449086 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435723 133449374 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133435734 133435735 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 133435735 133448607 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 133435735 133449694 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 133435735 133449694 Deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 chr7 133435735 133449694 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 133435735 133449712 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 133435751 133440983 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 133435837 133446369 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 133436065 133448477 Copy number Incontinentia Pigmenti Agilent SurePrint G8 one Million microarrays 22033527 chr7 133437483 133444091 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr7 133444444 133444544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133446428 133957380 LOH Normal High-resolution SNP genotyping 21211785 chr7 133449291 133957380 LOH Normal High-resolution SNP genotyping 21211785 chr7 133449694 133449737 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 133449737 133459332 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 133462645 133599473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 133462645 133599473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 133514456 133514490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133584362 133601143 Gain and loss Pancreatic cancer SNP array 17952125 chr7 133600000 142100000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr7 133624632 133652343 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 133624632 133652343 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 133647243 133813007 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 133669599 133683405 Gain and loss Pancreatic cancer SNP array 17952125 chr7 133691016 133691072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133707488 133721556 Gain and loss Pancreatic cancer SNP array 17952125 chr7 133721542 138880555 Deletion Esophageal cancer affymetrix genechip human mapping 270K Nsp arrays 21851588 chr7 133722299 133722391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 133764962 133798812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 133769479 133769555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133777649 133794428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 133777649 133794428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 133784171 133784255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133788810 133821820 Gain and loss Pancreatic cancer SNP array 17952125 chr7 133862884 133876693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 133901750 133901850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133920194 133920284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133921426 134112725 Gain and loss Pancreatic cancer SNP array 17952125 chr7 133959200 133981949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 133961022 133962714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 133975845 134124898 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 133982070 134015105 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 133982094 134015107 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 133982095 134015105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 133982095 134015105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 133985061 133985161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 133996394 134195154 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 134000540 134000962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 134043273 134062923 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 134046114 134062923 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 134057627 134057683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134114711 134306010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 134114711 134306010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 134125323 134125415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134128517 134257876 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1341434 1386085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 134155984 134156177 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134255548 134255636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 134290079 134307905 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134307789 134312702 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134308449 134704002 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 134320658 134322175 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134321802 134451158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 134321802 134451158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 134327240 134353541 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134360106 134363700 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 1343609 1353610 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134373986 134400499 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134408212 134408312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134470406 134494487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 134483364 134501190 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 134483364 134501190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 134501077 134505987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 134501077 134505987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 134504690 134652096 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134517571 134517660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134520525 134546811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 134520525 134546811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 134532088 134576672 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr7 134549095 134549140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134567271 134593784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 134567271 134593784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 134595437 135106198 LOH Normal High-resolution SNP genotyping 21211785 chr7 134598848 134598948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134651074 134684630 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 134684519 134842787 Deletion Splenic marginal zone lymphoma FISH,BAC CGH array,Tiling CGH array,LOH analysis 21957467 chr7 1346964 1347620 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134697090 134845391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 134697090 134845391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 134699948 134790744 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134701187 134701260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134777955 134778048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 13478099 14072741 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 134782194 134782503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 134802042 134802661 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134807606 134807705 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134817153 134817253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134823268 134870189 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134830903 134831003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134840000 135860000 Gain Breast cancer aCGH 21509527 chr7 134850103 134850198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134871610 134890702 Gain and loss Pancreatic cancer SNP array 17952125 chr7 134893201 134984029 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 134893228 134984029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 134893228 134984029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 134930623 134931059 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr7 1349463 1622358 Deletion Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr7 134976250 134976350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 134997760 135011699 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 135000801 135253800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 135000887 135000990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 135016526 135063473 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 135016579 135063474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 135016579 135063474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 135059894 135059926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135064895 135083987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 135064895 135083987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 135068764 135071186 Gain and loss Pancreatic cancer SNP array 17952125 chr7 135068764 135119362 Gain and loss Pancreatic cancer SNP array 17952125 chr7 135102706 135102812 Gain and loss Pancreatic cancer SNP array 17952125 chr7 135111679 135111759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135133294 135133397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 135193001 135194500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 135262042 135312744 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 135262049 135312647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 135262049 135312647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 135271985 135272084 Gain and loss Pancreatic cancer SNP array 17952125 chr7 135295991 135296097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 135329512 135329591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135376109 135376194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135381436 135381506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1353858 1355925 Gain and loss Pancreatic cancer SNP array 17952125 chr7 135419232 135419453 Deletion Breast cancer Illumina 1M duo array 20393555 chr7 135442453 135442553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135449501 135452000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 135452424 136304270 LOH Normal High-resolution SNP genotyping 21211785 chr7 135455040 135455147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 135465268 135465369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 135468671 135469019 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr7 135483854 135483954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135517013 135517603 Gain Normal 244K array 17666407 chr7 135550334 135634541 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 135550334 135634541 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 135579734 135579822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 135646681 135646768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135646784 139120682 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-568K arrays 21546498 chr7 1356691 1369169 Gain and loss Pancreatic cancer SNP array 17952125 chr7 135726168 135726268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135740000 137480000 Loss Acute lymphoblastic leukemia - 21339820 chr7 135760 164310 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 135811581 135811681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135820455 135820532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135824107 137343538 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 135830878 135830978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135859709 135859809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135924169 135924269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 135956268 135956368 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136010671 136162254 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136027276 136027376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136045169 136045296 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136067335 136067476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136067383 136067483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136067525 136067625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136080408 136080714 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136203939 136352311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 136203939 136352311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 136204372 136207250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 136204372 136207250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 136204501 136206000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 136238454 136238581 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 136249623 136249723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136257330 136282803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 13629715 13629980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 136369352 136485801 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136369598 136369722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136369723 136369891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136377268 137425104 Gain Normal 244K array 17666407 chr7 136429689 136429764 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136429693 136429764 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136433844 136433944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 13643448 13643527 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 136475556 136754197 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 136475556 136754197 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 136484990 136485291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 136502151 136502461 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 136530385 136530465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136530818 136988863 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136532084 158409214 Deletion Acute myeloid leukemia - 21251322 chr7 136562637 136679086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 136562637 136679086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 136563170 136980194 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 136563170 136980194 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 136580284 136580384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136586879 136588200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 136622974 136623049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 136628615 137284813 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 136647055 136647285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 136655834 136656239 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136660150 136660250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136699223 148405747 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 136706496 136706596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136724925 137182149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 136724925 137182149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 136766411 136766510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136783853 136783960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 13679574 13773014 Amplification or deletion Cancer Array CGH 17440070 chr7 13684721 13685412 Gain and loss Pancreatic cancer SNP array 17952125 chr7 136854819 136854919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 136859112 136859456 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 136892301 136895800 Deletion Glioma mate-paired sequence 20126413 chr7 136948901 137429600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 136955270 137029178 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 136989677 136989745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137002965 137003255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137005809 137059416 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr7 137019443 137053306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 137021995 137144058 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137048044 137048144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137056706 137073555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 137066773 137585297 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 13708330 13803555 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137105812 137106118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 137127317 137127417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137151153 137151253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 13718836 13718936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137210265 137337386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 137210265 137337386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137218451 137260305 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137221701 137226300 Deletion Glioma mate-paired sequence 20126413 chr7 137223548 137224369 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 137233232 137233442 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137295729 140266986 Gain Bladder cancer array-CGH 21909424 chr7 137300000 142800000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 chr7 137300000 142800000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 137300000 142800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 137300000 142800000 Deletion T-cell acute lymphoblastic leukemia FISH 16673021 chr7 137300000 142800000 Deletion T-cell acute lymphoblastic leukemia FISH 20065082 chr7 137300000 142800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 137300000 142800000 Gain Cancer array-based techniques 21183584 chr7 137300000 142800000 Gain Intracranial ependymoma matrix-based CGH 16609018 chr7 137300000 142800000 Gain Non-small cell lung cancer dChip 21829676 chr7 137300000 142800000 Translocation Developmental delay FISH 19490664 chr7 137300000 142800000 Triplication Pancreatitis - 20877625 chr7 137300000 158821424 Gain Multiple myeloma CGH, FISH 16461302 chr7 137300000 158821424 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chr7 137311294 137311394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137329999 137330130 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137374897 137374997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137411736 137453590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 137411736 137453590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137426517 137426727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137426524 137426813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137440081 137440493 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137445494 137473099 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 137510331 137510422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137523284 137523415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137546192 137546523 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137557480 137557570 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137557480 137557572 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137560434 137686054 Amplification or deletion Cancer Array CGH 17440070 chr7 137568609 137568709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137573385 137573485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137574379 137574479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137602334 137727580 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137624482 137624583 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137633366 137633787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 137633366 137633787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137646056 137646948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 137653685 137653785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137658972 137659004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137669062 137669154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137690407 137690498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 13769775 13803627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 137721315 137756193 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 137736286 137806224 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137738379 137739808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137750765 137750859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137782087 137782157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137795618 137920872 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 137795618 137920872 Gain or loss Breast cancer - 20668451 chr7 137795618 137920872 Gain or loss Cancer - 20668451 chr7 137795618 137920872 Gain or loss Lung cancer - 20668451 chr7 137795618 137920872 Gain or loss Ovarian cancer - 20668451 chr7 137795618 137920872 Gain or loss Pancreas cancer - 20668451 chr7 137795618 137920872 Gain or loss Prostate cancer - 20668451 chr7 137795618 137920872 Translate Acute promyelocytic leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 chr7 137795619 137921233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 137795619 137921233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137817767 137817868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137830980 137831507 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137843707 137845068 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137848295 137940181 Gain and loss Pancreatic cancer SNP array 17952125 chr7 137929571 137999515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 137929571 137999515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 137931001 137931055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 137950799 137951037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 137972729 137972792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 137979109 138061419 Gain and loss Pancreatic cancer SNP array 17952125 chr7 13800000 43300000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr7 138018360 138018466 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138018361 138018466 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1380213 1382870 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138041578 138133481 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 138041580 138133481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138041580 138133481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138048157 138048257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 138060226 140654186 Copy number Low-grade astrocytoma Illumina HumanHap550K single-nucleotide polymorphism oligonucleotide arrays 19016743 chr7 138062933 138108007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 138112701 138315100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 138133279 138141307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138133279 138141307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138164381 138178030 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138166666 138255110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138166666 138255110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138166667 138316604 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 138185523 138251720 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138190952 138384594 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 138200000 143100000 Amplification Medulloblastoma CGH 16968546 chr7 138200000 143100000 Amplification Pilocytic astrocytoma quantitative PCR 18408760 chr7 138200000 143100000 Copy number Idiopathic chronic pancreatitis Agilent Human Genome CGH Microarray 244 K 19584086 chr7 138200000 143100000 Copy number Low-grade astrocytoma Illumina HumanHap550K single-nucleotide polymorphism oligonucleotide arrays 19016743 chr7 138200000 143100000 Copy number Pediatric low-grade astrocytoma Illumina HumanHap550K single-nucleotide polymorphism oligonucleotide arrays 19016743 chr7 138200000 143100000 Deletion Cancer Array CGH 17440070 chr7 138200000 143100000 Duplication Astrocytoma Array CGH 18398503 chr7 138200000 143100000 Gain Melanoma GeneChip Human Mapping 100K Set SNP arrays 19671679 chr7 138200000 143100000 Loss Acute lymphoblastic leukemia 33K BAC Array CGH 17315016 chr7 138200000 143100000 Loss Gastric cancer Array CGH 16891809 chr7 138200000 143100000 Loss Lung adenocarcinoma Agilent 44k arrays 19525976 chr7 138200000 143100000 Loss Lung cancer Agilent 44k arrays 19525976 chr7 138200000 147900000 Gain Breast cancer Microarray-based CGH 17133270 chr7 138200000 152600000 Deletion Schizophrenia - 17646849 chr7 138211645 138211751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138221050 138846751 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 13823537 13823628 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138275779 138331801 Gain and loss Pancreatic cancer SNP array 17952125 chr7 13830534 13987646 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 138342 138438 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 138348589 138348689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 138357666 138371315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138357666 138371315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138360991 138371315 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 138373706 138440253 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138378805 138445005 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 138378808 138445005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138378808 138445005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138387436 142157275 LOH Normal High-resolution SNP genotyping 21211785 chr7 138392809 138393125 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 138435298 138435370 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 138438 160848 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 138457292 138457395 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138459817 139610819 Deletion Normal - 21586113 chr7 138469029 138525090 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 138469064 138525086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138469064 138525086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138483327 138488320 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138490538 138490628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 138501882 138565453 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138531181 138534969 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138546566 139329889 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr7 138566770 138643521 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 138566991 138643522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138566991 138643522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138593520 138625713 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138650577 138650680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138676436 138681081 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 138676614 138681605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138676614 138681605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 13867748 13867813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 138681154 138686985 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138692451 138692551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 138694501 138696000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 138694981 138916584 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-578K arrays 21546498 chr7 138695173 138757626 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 138695174 138758738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138695174 138758738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 13870645 14345776 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 138714636 138930701 Gain and loss Pancreatic cancer SNP array 17952125 chr7 138719695 139004563 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-553K arrays 21546498 chr7 138722747 138722829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 138724466 138728254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138748147 138762748 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 13878006 13878666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138788627 138818997 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 138788628 138818997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138788628 138818997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138846751 139857454 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 138857688 138858002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 138877479 138877579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 138907915 139123984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 138907915 139123984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 138907919 139124046 Copy number Low-grade astrocytoma Illumina HumanHap550K single-nucleotide polymorphism oligonucleotide arrays 19016743 chr7 138916516 138916548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 138935891 138952431 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 138947601 139377700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 13897379 13997399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 13897379 13997399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 13897380 13997399 Amplification Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 chr7 13897380 13997399 Copy number Lung cancer - 20668451 chr7 13897380 13997399 Gain or loss Breast cancer - 20668451 chr7 13897380 13997399 Gain or loss Cancer - 20668451 chr7 13897380 13997399 Gain or loss Lung cancer - 20668451 chr7 13897380 13997399 Gain or loss Ovarian cancer - 20668451 chr7 13897380 13997399 Gain or loss Pancreas cancer - 20668451 chr7 13897380 13997399 Gain or loss Prostate cancer - 20668451 chr7 13897380 13997399 Rearrangement Prostate cancer array-based CGH 17079440 chr7 138982136 139173275 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139033910 139034010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139124668 139366560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 139124668 139366560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139135259 139330512 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 139135259 139615520 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 139176735 139216327 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139243201 139329925 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139247681 139247776 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139247685 139247776 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139249573 139249673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139250 225446 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139296970 139297161 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 139362551 139362655 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139362553 139362655 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139370017 139409990 Gain or loss Breast cancer - 20668451 chr7 139370017 139409990 Gain or loss Cancer - 20668451 chr7 139370017 139409990 Gain or loss Lung cancer - 20668451 chr7 139370017 139409990 Gain or loss Ovarian cancer - 20668451 chr7 139370017 139409990 Gain or loss Pancreas cancer - 20668451 chr7 139370017 139409990 Gain or loss Prostate cancer - 20668451 chr7 139370020 139409990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 139370020 139409990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139394854 139395015 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139394854 139395086 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139409599 139409699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139411086 139444229 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 139431014 139523210 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 139431014 139523210 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 139431015 139523210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139440966 139441061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139445736 139446224 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139446930 139446983 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 139450000 139810000 Loss Breast cancer aCGH 21509527 chr7 139486738 139551495 Gain and loss Pancreatic cancer SNP array 17952125 chr7 13948741 13979691 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139488103 139488203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139491 225446 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139492606 139492706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139506510 139506610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 13951383 13962049 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139523423 139523511 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139523529 139525908 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 139526092 139526170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139528549 139528650 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139539763 139539880 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139539765 139539891 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139540848 139540948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 13954772 13957989 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 139555832 139555940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139560715 139560843 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139564849 139579104 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139580513 139611871 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 139588139 139588301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 13960485 14654128 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139606044 139632486 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139639018 139639509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139643462 139643562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139650508 139654935 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 139654935 139654937 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 139659422 139659522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139669613 139755427 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139671596 139671696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139680020 139744780 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 139680020 139744780 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 139680023 139744780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 139680023 139744780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139680431 140788338 LOH Normal High-resolution SNP genotyping 21211785 chr7 139684194 139684240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139696278 139696377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139713421 139713515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139716707 139716815 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139716708 139716796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139720000 140020000 Loss Acute lymphoblastic leukemia - 21339820 chr7 139721834 139721935 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139725812 139725873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139733050 139733176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 13973491 13975330 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 139753916 139772419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 139753916 139772419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139762831 139762933 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139762831 139762940 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139777132 139795153 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139798847 139799110 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139799329 139825771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 139799329 139825771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139800986 139801086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139826137 139848093 Gain and loss Pancreatic cancer SNP array 17952125 chr7 13983081 13983181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 139831423 139853686 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139834962 139837066 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 139838622 139853686 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139838799 139853686 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139838799 139858876 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 139839328 139845481 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 139841565 140031841 Amplification or deletion Cancer Array CGH 17440070 chr7 139849665 139859626 Gain and loss Pancreatic cancer SNP array 17952125 chr7 13986000 54398000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr7 139864688 139987755 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 139864699 139986814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 139864699 139986814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139877475 141278821 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 139887461 140077748 Gain and loss Pancreatic cancer SNP array 17952125 chr7 139926556 139926618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139929521 139930453 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 139956116 139956222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139992113 139992393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 139992132 139992395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140019421 140041377 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 140019422 140041378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 140019422 140041378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140037056 140037162 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140042949 140052915 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 140042950 140052911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 140042950 140052911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140048069 140048163 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140080281 140271033 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 140080281 140271033 Copy number Lung adenocarcinoma Power SYBR Green PCR Master Mix 19826477 chr7 140080281 140271033 Copy number Lung cancer Power SYBR Green PCR Master Mix 19826477 chr7 140080281 140271033 Gain Melanoma aCGH 19509136 chr7 140080281 140271033 Gain or loss Breast cancer - 20668451 chr7 140080281 140271033 Gain or loss Cancer - 20668451 chr7 140080281 140271033 Gain or loss Lung cancer - 20668451 chr7 140080281 140271033 Gain or loss Ovarian cancer - 20668451 chr7 140080281 140271033 Gain or loss Pancreas cancer - 20668451 chr7 140080281 140271033 Gain or loss Prostate cancer - 20668451 chr7 140080751 140271033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 140080751 140271033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140080752 140271033 Copy number Low-grade astrocytoma Illumina HumanHap550K single-nucleotide polymorphism oligonucleotide arrays 19016743 chr7 140104443 140104528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140150936 140152598 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140159146 140167931 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14016822 14016913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140174786 140799678 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 140205233 140205299 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140205233 140205364 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140213 3449208 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr7 140227307 140623764 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140230341 140230447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140236324 140236424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140242 182147 Gain Normal 244K array 17666407 chr7 140255056 140255272 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 140342147 141342147 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 140348665 140361218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 140348665 140361218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140352429 140361250 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 140355244 140355344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140398518 140398679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140415001 140870400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 140532077 140532176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140532349 140532430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140535324 140535424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140621000 140649514 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 140646032 140660591 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 140665664 141845874 LOH Normal High-resolution SNP genotyping 21211785 chr7 140704394 140807393 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1407133 1408082 Copy number Autism exome sequencing 22495311 chr7 140733726 140734580 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 140736 180194 Duplication Nasopharyngeal cancer PennCNV 20548289 chr7 140744631 140744781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140756440 140767184 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 140758848 140762659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 140758848 140762659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140760333 140760651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 14076685 14077530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140767184 141696584 LOH Normal High-resolution SNP genotyping 21211785 chr7 140778424 140778466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 14078241 14078372 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 140795796 140795896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140809714 140819292 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140841467 140858513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 140857708 140857749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140860000 144210000 Loss Breast cancer aCGH 21509527 chr7 140876921 140881129 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140880968 140881132 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140891359 140903441 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140897546 141000678 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 140901712 141000678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 140901712 141000678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 140917143 140918093 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140928726 140928826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140931473 140932372 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140942565 140942665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140943346 140944245 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140951911 141036040 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 140955057 140955122 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140955122 140955185 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140955230 140955302 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140955304 140955372 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140955382 140955449 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140956472 140956539 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140956541 140956612 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140956610 140956677 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140957953 140958023 Gain and loss Pancreatic cancer SNP array 17952125 chr7 140973526 140973626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 140989270 140994471 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141002997 141048422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141002997 141048422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141002999 141003780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141002999 141003780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141013355 141013579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141040246 141040923 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141047628 141047717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 141054622 141077540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141055503 141096181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141071860 141072804 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141074253 141074417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141080341 141099967 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141084644 141096726 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 141084644 141096726 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 141084645 141096726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141084645 141096726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141110103 141110203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141110366 141111466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141110366 141111466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141124711 141125704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141124711 141125704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141124757 141125657 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 141125672 141126673 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141136610 141137569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141136610 141137569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141138180 141138367 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 141138220 141138452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 141148342 141148407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141148515 141148587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141148589 141148657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141148667 141148734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141148863 141227153 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141149757 141149824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141149826 141149897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141151238 141151308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141162879 142244396 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 chr7 141163595 141382145 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 141163595 141382145 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 141177886 141177986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141182555 141187690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141182555 141187690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141214757 141520912 Loss or gain Normal 244K array 17666407 chr7 141216321 141224084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141231410 141244765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141261887 141261919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141265145 141266089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141265145 141266089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141266935 141272981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 141273626 141293252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141273626 141293252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141296675 141296775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141318957 141319958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141318957 141319958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 14131984 14132084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141322 158605053 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 141322 38076360 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141322 38076360 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141322 5542730 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141322 57730637 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 141342147 141453015 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 141342148 141453015 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141342148 141453015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141386918 141393917 Loss Normal TaqMan assays 20972442 chr7 141388076 141440859 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 141388076 141440859 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 141388076 141441024 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 141388076 141441024 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 141391328 141391427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141395819 141433319 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141401951 141401951 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr7 141405157 141411070 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141406463 141434097 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141406463 141441259 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr7 141407299 141436434 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141408343 141416111 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 141409581 141451999 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141409582 141430794 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 141411965 141440504 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 141411965 141440504 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 141413152 141438704 Deletion Oligozoospermia Array-CGH 20877625 chr7 141413152 141438704 Deletion Sertoli-cell only syndrome Array-CGH 20877625 chr7 141413152 141438704 Duplication Oligozoospermia Array-CGH 20877625 chr7 141413152 141438704 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chr7 141413152 141440384 Copy number Incontinentia Pigmenti Agilent SurePrint G9 one Million microarrays 22033527 chr7 141413660 141440709 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 141413660 141440709 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 141416100 141429438 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416100 141434460 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141416100 141438564 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416100 141445617 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416100 141451999 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416112 141438377 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 141416112 141438377 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 141416112 141438576 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141416586 141436640 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416717 141434103 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416826 141436640 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416966 141436640 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416966 141451999 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416966 141467058 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141416990 141441749 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 141420759 141439888 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr7 141421300 141425252 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14143919 14144019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141440000 158550000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr7 141455427 142018646 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141458017 141490252 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 141458018 141490241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141461573 141528184 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141464984 141465084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141474094 141481806 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141484123 141484195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141484873 141502403 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141488721 141534757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141495143 141998293 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141495925 141534578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141496151 141539483 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141496479 141530734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141496621 141538804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141497234 141998293 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141497410 141529421 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141498307 141534676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141501409 141540297 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141501682 141557369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141507034 141507134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141511719 141528375 Gain Normal 244K array 17666407 chr7 14151199 14909359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 14151199 14909359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141512351 141516258 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141517438 141567562 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 141517439 141547833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141517439 141547833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141528640 141941760 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 141531118 141998293 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141532539 141532731 Loss Normal 244K array 17666407 chr7 141532731 141533711 Loss Normal 244K array 17666407 chr7 14153769 14847413 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 14153770 14847480 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 141559565 141583314 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141580825 141583339 Copy number Chronic pancreatitis Agilent Human Genome CGH Microarray 244 K 19584086 chr7 141582221 141842222 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141582221 141998293 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141587066 141594776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141592807 142264966 Deletion Cancer Affymetrix 250K Sty array 20164920 chr7 141598442 141604355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141598442 141604355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141609136 141668416 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141610138 142123524 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 141615141 141618551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141632015 142216972 Copy number Normal Quantitative Real-Time PCR 17666543 chr7 141633298 141667048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141633482 141998293 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141634243 141636133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141637783 142269523 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 141647309 141647743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141647309 141647743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141654907 141655366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141659531 141659984 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141659531 141659984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141667379 141667848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141668799 141960914 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141673137 141673237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141674660 141675092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141675279 141989078 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141678521 141679009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141684869 142210398 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr7 141691835 141692288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141691835 141692288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141692190 141710847 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 141692190 141710847 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 141692190 141715925 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 141692190 141715925 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 141693569 141704767 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141693569 141711905 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141693569 141711905 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141693569 141712574 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141693569 141715776 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141693581 141693868 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 141693581 141715788 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693581 141721887 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693604 141711917 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693604 141715788 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693604 141722145 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693604 141727147 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693701 141715788 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693701 141732907 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693775 141711905 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141693787 141711917 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693787 141721887 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693835 141710847 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 141693835 141710847 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 141693835 141715925 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 141693835 141715925 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 141693857 141704825 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 141693857 141712447 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 141693868 141711917 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141693868 141712586 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 141693868 141712586 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 141695655 141696087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141696584 141715925 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 141696584 141715925 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 141698634 141714168 Deletion Cancer ultra-high resolution array CGH 21272361 chr7 141699438 141712574 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141699450 141711917 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141699450 141727147 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141699566 141704767 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141704110 141720176 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 141709095 141709548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141711730 141711905 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 141712586 141715788 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 141717336 141717768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141720969 141721465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141721888 142194079 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 141724501 141728700 Deletion Glioma mate-paired sequence 20126413 chr7 141724609 142017261 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14172570 14172670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141726630 141726967 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 141734811 141998293 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141739540 141776742 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141746148 142269523 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 141749279 141749713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141751255 141998293 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141752850 141753306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141754315 141754383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141755790 142007668 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141757668 141758134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141760404 141760878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141768395 141768844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141772307 141772382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141776154 141776601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141791277 141836042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141793461 141793910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141797435 142722879 LOH Normal High-resolution SNP genotyping 21211785 chr7 141802421 141802859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141813913 142123524 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 141813913 142240984 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 141819478 141819913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141823636 141824097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141831583 141832047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141838053 141838485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141851028 141851492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141852546 141998293 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 141853923 141864631 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 141856336 141856768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141856764 142015898 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 141859290 141859360 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141859381 141859642 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141860313 141860377 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141860651 141861143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141868540 141869005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141875177 141875277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141875852 141876280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141880094 141880595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141885220 142736642 LOH Normal High-resolution SNP genotyping 21211785 chr7 141888557 141889023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141891589 141900427 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 141895863 141896294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141900 142200 Copy number Lymphoma KC-SMARTR 21070656 chr7 141900427 141902885 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 141900427 141934463 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 141900477 141900960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141902885 141909210 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 141904576 141912568 Gain and loss Pancreatic cancer SNP array 17952125 chr7 141908659 142758851 LOH Normal High-resolution SNP genotyping 21211785 chr7 141908693 141909159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141917894 141918366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141924413 141924896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141932825 141933274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141939931 141940034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141943473 141943910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141943619 141947210 Deletion T-cell lymphomas Array-CGH 22341440 chr7 14194514 14194831 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 141945501 141962184 Amplification Normal Arbitrated Peel-off 21527027 chr7 141945501 141962184 Amplification Normal Standard peel-off 21527027 chr7 141946168 142535204 LOH Normal High-resolution SNP genotyping 21211785 chr7 141946168 142700687 LOH Normal High-resolution SNP genotyping 21211785 chr7 141947958 141947997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 141948871 142002444 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141949075 141949521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141952398 141952844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141955062 141995523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141955640 141982691 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141955924 141984977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141957436 141993804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141959153 141989721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141959891 142021978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 141962385 141985016 Loss or gain Normal 244K array 17666407 chr7 14196945 14198307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141969589 141970035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141969589 141970035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141976532 141976964 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141976532 141976964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141976845 158811205 LOH Normal - 20944671 chr7 141981607 141982075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 141981607 141982075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 141990232 141990966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142002759 142047232 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 142004303 142004921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142004303 142004921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142007563 142008038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142008035 142009035 Gain Chordoma References 21215367 chr7 142015233 142015905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142015898 142204664 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 142018646 158605053 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 142022287 142046012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 142025416 142025876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142030227 142210594 Deletion Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 chr7 142034456 142034952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142043797 142044273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142043797 142044273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142046956 142047286 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 142052575 142052645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142053598 142053662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142058172 142058639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142077344 142085675 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142085797 142100344 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142086318 142192134 Copy number Neuroblastoma 550K SNP array 19536264 chr7 142102795 142103267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142103004 142148546 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 142103004 142148546 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 142104463 142176424 Copy number Alcoholism Illumina Human Hap672W-Quad BeadChip 21790672 chr7 142104463 142176424 Copy number Normal - 21790672 chr7 142108085 142108565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142122104 142147742 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142127703 142128316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142127703 142128316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142134204 142184405 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 142136568 142136634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142136892 142140501 Duplication Pancreatitis - 20877625 chr7 142136892 142140501 Triplication Pancreatitis Reference 17953491 chr7 142136892 142182363 Duplication Pancreatitis - 20877625 chr7 142136897 142172034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142136897 142172034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142149316 142188096 Copy number Lung cancer paired-end sequencing 18438408 chr7 142151197 142151265 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142152233 142176592 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 142152233 142176592 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 142153436 142154785 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142154199 142167486 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142154229 142167486 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142154515 142167486 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142154516 142176259 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 142154516 142176423 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 142154918 142176917 Deletion Normal TaqMan assays 20972442 chr7 142155040 142176340 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142155098 142174091 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 142155098 142174091 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 142155098 142174091 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 142155098 142174091 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 142155398 142171867 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 chr7 142155609 142167486 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 142155609 142167486 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 142155613 142167486 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142155613 142176424 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142155613 142178260 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142155653 142176520 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142156282 142166729 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142156282 142166915 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142156282 142167354 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142156282 142167474 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142156282 142167474 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142156282 142178248 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142156282 142179022 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142156282 142179742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142156282 142185094 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142156294 142176424 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142157275 142171715 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 14215801 14220200 Deletion Glioma mate-paired sequence 20126413 chr7 142158331 142161973 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 142158954 142171665 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 142159739 142159810 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142160877 142170663 Deletion Breast cancer triplex PCR 17598925 chr7 142162915 142176424 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142162915 142176508 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142167486 142179754 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 142167698 142182359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142167698 142182359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142171715 142929738 LOH Normal High-resolution SNP genotyping 21211785 chr7 142171715 142934677 LOH Normal High-resolution SNP genotyping 21211785 chr7 14217437 14218530 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 14218222 14218578 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 142194025 142194036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142194348 142194448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142194692 142194739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142194692 142195692 Gain Chordoma References 21215367 chr7 142194829 142194876 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142195173 142195273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142195442 142195491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142195442 142195491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142196037 142196087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142196310 142196359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142196800 142196852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142199506 142200953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142203517 142203532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142204001 142205500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 142204177 142204226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142204178 158821424 Copy number Lung cancer paired-end sequencing 18438408 chr7 142204372 142204422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142204509 142204554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142204659 142204707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142204810 142204859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142204931 142204978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142204931 142204978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142205051 142205103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142205268 142205314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142205271 158821424 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 142208852 142210340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142208852 142210340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142220395 142221097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142240124 142241056 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142262001 142302500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 142262913 142278969 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 142262913 142278969 Copy number Lung cancer - 20668451 chr7 142262913 142278969 Gain or loss Breast cancer - 20668451 chr7 142262913 142278969 Gain or loss Cancer - 20668451 chr7 142262913 142278969 Gain or loss Lung cancer - 20668451 chr7 142262913 142278969 Gain or loss Ovarian cancer - 20668451 chr7 142262913 142278969 Gain or loss Pancreas cancer - 20668451 chr7 142262913 142278969 Gain or loss Prostate cancer - 20668451 chr7 142262914 142278967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142262914 142278967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142266275 142267216 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142276466 142277572 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142278162 142279548 Copy number Idiopathic chronic pancreatitis Agilent Human Genome CGH Microarray 244 K 19584086 chr7 142279081 142293599 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 142279082 142293599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142279082 142293599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142315389 142341027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142315389 142341027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142333764 158605053 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 142335096 142342547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 142344413 142500250 Copy number Insulin resistance Affymetrix Genome-Wide Human SNP 6.0 Array 21901158 chr7 142346003 142353675 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142346721 142348077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142346721 142348077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142346724 142348079 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 142348322 142369625 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 142348325 142369625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142348325 142369625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142367120 142380827 Loss Normal 244K array 17666407 chr7 142397349 142398362 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142433408 142434341 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 142433409 142434341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142433409 142434341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142436009 142436980 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142469703 142470857 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142469703 142470857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142477417 142484784 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142493887 142501977 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142502239 142521621 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142504545 142504836 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142505689 142505789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142512447 142512742 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142518934 142564100 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 142522724 142552406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 142526611 142526994 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142530056 142565934 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142539288 142546960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142539288 142546960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142563019 142644608 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 142567331 142576682 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14257223 14257292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142584814 142703619 Gain Stenocardia MACArray Karyo 36K BAC-chips 21860640 chr7 142584814 142703619 Gain Vasospasm MACArray Karyo 36K BAC-chips 21860640 chr7 142595233 142605039 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142599302 142599400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142605042 142622822 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142610738 142610820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142629252 142630294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142629252 142630294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142637620 142637713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142648817 142648917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142657383 142658339 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142659209 142659267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142664612 143005268 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143018052 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143018052 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143100064 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143100064 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143479566 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143479566 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143635318 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143635318 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142664612 143806286 Multiallelic Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr7 142667951 142668063 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142670644 142676328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142670644 142676328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142673542 142673642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142687172 142695263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142687172 142695263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142691803 142692726 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142692184 142695263 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 142695523 142714907 Gain or loss Breast cancer - 20668451 chr7 142695523 142714907 Gain or loss Cancer - 20668451 chr7 142695523 142714907 Gain or loss Lung cancer - 20668451 chr7 142695523 142714907 Gain or loss Ovarian cancer - 20668451 chr7 142695523 142714907 Gain or loss Pancreas cancer - 20668451 chr7 142695523 142714907 Gain or loss Prostate cancer - 20668451 chr7 142695524 142714906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142695524 142714906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142697830 142698121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142697830 142698126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142705731 142706027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142705732 142706027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142723341 142759219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142723341 142759219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142724366 143802476 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 142724863 142725841 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142757245 142819261 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142760616 142769967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142760616 142769967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142787501 142807000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 142788295 142798326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142788295 142798326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142788481 142798327 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 142788674 142788777 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142795481 142829843 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 142798326 142816107 Copy number Lung cancer - 20668451 chr7 142798326 142816107 Gain or loss Breast cancer - 20668451 chr7 142798326 142816107 Gain or loss Cancer - 20668451 chr7 142798326 142816107 Gain or loss Lung cancer - 20668451 chr7 142798326 142816107 Gain or loss Ovarian cancer - 20668451 chr7 142798326 142816107 Gain or loss Pancreas cancer - 20668451 chr7 142798326 142816107 Gain or loss Prostate cancer - 20668451 chr7 142798331 142816107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142798331 142816107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142800000 147500000 Amplification Normal Refference 21823210 chr7 142800000 147500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 142800000 147500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 142800000 147500000 Duplication Heart disease Illumina 615Quad Beadchip platform 21282601 chr7 142800000 147500000 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 chr7 142800000 147500000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 chr7 142800000 147500000 Triplication Pancreatitis References 21956041 chr7 142800000 158821424 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr7 142823466 142823612 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142828 5441935 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr7 142832875 143510754 LOH Normal High-resolution SNP genotyping 21211785 chr7 142834904 142865150 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142835546 143018052 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 142845555 142845655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142850668 142851624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 142850668 142851624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142861236 142861348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142885088 142886011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142889370 142889473 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142890066 142892265 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142900920 142900995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142918148 142919126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142921765 143163919 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 142928518 143039351 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 142928518 143163919 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 142929090 142933203 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 142929090 143155257 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142929090 143177236 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 142929090 143198992 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 142929738 143020321 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 142933077 143017080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142933191 143039351 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 142933191 143056311 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 142933203 142937021 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 142934677 143048002 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 142937021 142941348 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 142941336 143163919 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 142941348 142956491 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 142944972 142952714 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142953168 142985524 Gain Normal 244K array 17666407 chr7 142956491 142963649 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 142956516 143155127 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 142956516 143163919 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 142963441 142963541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142963452 143155127 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 142963649 142998073 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 142965191 142965291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 142981959 142982062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 142986118 142987618 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142987699 143036896 Gain and loss Pancreatic cancer SNP array 17952125 chr7 142998073 143029152 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143020321 143523292 LOH Normal High-resolution SNP genotyping 21211785 chr7 143023988 143038296 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr7 143028166 143053109 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 143028663 143053109 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 143028667 143058435 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143028667 143058435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143029152 143039363 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143031678 143081238 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 143031678 143081238 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 143039363 143061137 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143052813 143635318 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143061137 143075149 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143061137 143163919 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143069974 143070927 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143075137 143163919 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143075149 143079312 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143075453 143083808 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 143079312 143079333 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143079333 143083821 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143083351 143085550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143083821 143101053 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143094712 143095665 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143100000 147900000 Copy number Autism Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 143100000 147900000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 143100000 147900000 Copy number Tourette syndrome Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 143100000 147900000 Gain Gastric cancer Array CGH 16891809 chr7 143100000 147900000 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 chr7 143100000 147900000 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 chr7 143101053 143101214 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143101214 143108207 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143108207 143163931 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143115293 143154287 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 143138257 143146099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143138257 143146099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143138738 143139673 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143139993 143164743 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 143139993 143164743 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 143163931 143174798 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143174798 143178205 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143176789 143479566 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143176789 143479566 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143176789 143635318 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143176789 143635318 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143176789 143806286 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143178205 143198992 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143180168 143413156 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143180168 143479566 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143180168 143479566 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143180168 143635318 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143180168 143635318 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143180984 143230181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143180984 143230181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143185341 143185991 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143198992 143203219 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 143229849 143230781 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143244324 143245280 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143263259 143264212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143263259 143264212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143263854 143264786 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143266616 143505123 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 143276876 143277682 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143283127 143479566 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 143287960 143289041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143287960 143289041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143291967 143292900 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1 43300000 Deletion Medulloblastoma SNP arrays 21979893 chr7 143309306 143309437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143318867 143320819 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143320745 143321671 Gain Normal BAC array 16365383 chr7 143321170 143321274 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143321701 143391092 Gain Normal 244K array 17666407 chr7 143330756 144571067 Gain Neuroblastoma aCGH 20406844 chr7 143332023 143332958 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143332023 143332958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 14333237 14333318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 143339071 143443973 Gain Normal BAC array 16365383 chr7 143341029 143342084 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 143341029 143342084 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143366673 143367614 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143378428 143379363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143378428 143379363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143383314 143389573 Gain Normal BAC array 16365383 chr7 143393437 143394369 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14340188 14340220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 143402060 143403169 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143402246 143403178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143402246 143403178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143406977 143407891 Gain Normal BAC array 16365383 chr7 143423134 143424066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143423134 143424066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143426982 143427043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 143428581 143515369 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143437609 143438565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143437609 143438565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143457139 143458071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143457139 143458071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1434641 1465635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1434641 1465635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143485252 143486185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143489209 143640485 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 1435001 1489500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 143500389 143640485 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143504310 143637622 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143504310 143640485 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143504310 143697868 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143505458 143700334 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 143505458 143705374 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 143506132 143700334 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 143506132 143703229 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 143508006 143705630 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 143508408 143705208 Gain Non-syndromic sensorineural hearing loss BAC end sequencing 19587683 chr7 143508477 143541289 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 143510480 143704657 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 143510754 143679794 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143510754 143679794 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 143510754 143700334 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 143510754 143728284 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143513397 148008729 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 143514455 143514559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143514610 143523669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143514967 143624198 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr7 143517648 143679794 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143517648 143679794 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 143517648 143697936 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143523292 143679794 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143523292 143705904 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143526692 143703229 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143526692 143705904 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143527086 143679794 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143527086 143679794 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 143527086 143700334 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 143527173 143648230 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143527173 143658497 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143527173 143671838 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143527173 143671838 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143527173 143671838 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143527173 143680300 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 143527173 143682152 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143527173 143682152 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143527173 143697868 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 143527173 143697868 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143527173 143697868 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143527173 143697868 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143527173 143706824 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 143527185 143535212 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143527185 143681866 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 143527616 143679794 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143527616 143703229 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143527616 143703229 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 143527616 143705374 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143527616 143705374 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 143527616 143709350 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 143529519 143529857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 143533687 143536336 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143535212 143542557 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143540156 143634588 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143540156 143664772 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143540156 143680300 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143540156 143682152 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143540156 143682152 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143540156 143697868 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 143540156 143697868 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143540156 143697868 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143540156 143697868 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143540156 143705862 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143540366 143664772 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143540366 143671838 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143540366 143682152 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143540366 143705862 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143542545 143658497 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143542545 143664772 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143542545 143664772 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143542545 143671838 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143542545 143671838 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143542545 143680300 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143542545 143682152 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143542545 143697868 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 143542545 143697868 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143542545 143705862 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143542557 143548534 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143542557 143681866 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 143542557 143682164 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 143542557 143697880 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 143547480 143547525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 143548522 143658497 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143548522 143664772 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143548522 143664772 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143548522 143664772 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143548522 143671838 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143548522 143671838 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143548522 143682152 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143548522 143682152 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143548522 143682152 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143548522 143697868 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 143548522 143697868 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143548522 143697868 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143548522 143697868 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143548522 143697868 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143548534 143558740 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143557352 143585922 Gain aortic dissecting aneurysms Array-CGH 22263138 chr7 143558728 143671838 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143558728 143682152 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143558728 143697868 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143558728 143705862 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143558740 143569246 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143559937 143560869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143561999 143671838 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143569234 143671838 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143569234 143680300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143569234 143682152 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143569234 143682152 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 143569234 143682152 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143569246 143658509 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143569567 143569935 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143578263 143683165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143578263 143683165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143583234 143744707 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 143583309 143584405 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 143586433 143586516 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143586691 143970781 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143601231 143697868 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 143601459 143622189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143601459 143622189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143646151 143647083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143646151 143647083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143658509 143682164 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 143665714 143667445 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 143677175 143677510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 143682164 143697880 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 143683366 143708657 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143683366 143708657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143683421 143708658 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 143683421 143708658 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 143683421 143708658 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 143705374 149214313 LOH Normal High-resolution SNP genotyping 21211785 chr7 143708326 147635607 LOH Normal High-resolution SNP genotyping 21211785 chr7 143726972 143738253 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143726972 143738253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143771238 143771338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 143779707 143779803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143779718 143779801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143779976 144164079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 143779976 144164079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143802476 144810583 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 143886341 143886807 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143894730 143974458 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 143936044 143936533 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143975212 143976601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143976453 143976540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 143984495 143984824 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143984496 143984825 Gain and loss Pancreatic cancer SNP array 17952125 chr7 143992115 143992436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 144013683 144013830 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 14402052 14608450 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 144024949 144133428 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 144099594 144132196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 144118814 148066271 Deletion Cancer Affymetrix 250K Sty array 20164920 chr7 14415566 14415886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 14417764 14417929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 144177781 144178110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 14417790 14417955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 144200000 152200000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr7 144333895 144339029 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 144333895 144339029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 144346101 144349700 Deletion Glioma mate-paired sequence 20126413 chr7 144372336 145820682 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 144513490 144517631 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 144544949 144587507 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 144547815 144552331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 144549990 144587507 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 144641853 145369707 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-558K arrays 21546498 chr7 144644475 144644530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 144650527 144650899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 144694155 144694317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 14474640 14474922 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 144760670 146114343 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 144770248 144770323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 144781614 144781714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 144804748 145775128 LOH Normal High-resolution SNP genotyping 21211785 chr7 144804748 145813166 LOH Normal High-resolution SNP genotyping 21211785 chr7 144813639 144813739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 144816379 146182861 LOH Normal High-resolution SNP genotyping 21211785 chr7 144833499 144833599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 144908304 147808524 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-569K arrays 21546498 chr7 144929605 144929688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 144943032 144977878 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 144943783 144943883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 4500000 Gain Chordoma Array CGH 21602918 chr7 1 4500000 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr7 1 4500000 Gain Normal Human genome CGH 59k ARRAY PLATFORM 22144094 chr7 1 4500000 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr7 145033896 146320771 LOH Normal High-resolution SNP genotyping 21211785 chr7 145058089 145089949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 145094861 145142626 Amplification Normal Arbitrated Peel-off 21527027 chr7 145132069 145132131 Gain and loss Pancreatic cancer SNP array 17952125 chr7 145225586 145225671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145244767 145244867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145251617 147550356 Gain and loss Pancreatic cancer SNP array 17952125 chr7 145253474 145253603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145261678 145261778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145325354 145325416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 145337612 158490400 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr7 145358119 145365822 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 145360392 145405068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 1 45400000 Copy number Lynch syndrome Illumina BeadArrays and the GoldenGate assay 18415027 chr7 145408277 145453624 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 14542048 14542148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145444385 147749019 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 145444385 147749019 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr7 145444385 147749019 Copy number Schizophrenia References 20718829 chr7 145444385 147749019 Deletion Neuropsychiatric disorder Illustra GenomiPhi V2 DNA Amplification Kit 21827697 chr7 145444902 147749019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 145444902 147749019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 145446460 145446558 Gain and loss Pancreatic cancer SNP array 17952125 chr7 145446460 145446562 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1454486 1474919 Copy number Autism exome sequencing 22495311 chr7 145522091 145522191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145551083 145551293 Gain and loss Pancreatic cancer SNP array 17952125 chr7 145569625 145588932 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 145590817 145590980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145591036 145591186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145690701 145690792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145740000 152080000 Loss Breast cancer aCGH 21509527 chr7 145744368 145744578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 145746026 145841217 Deletion small cell lung cancer array-CGH 20016488 chr7 145754715 145754815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145764699 145770451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 145769783 145775077 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 145769784 145788509 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 145812557 146030850 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 145813452 148118086 Copy number Autism ref 20964600 chr7 145813452 148118086 Deletion Epilepsy Illumina GoldenGate Bead Array 17646849 chr7 145813452 148118086 Deletion Schizophrenia Illumina GoldenGate Bead Array 17646849 chr7 145813453 148118086 Deletion Mental retardation FISH and MLPA 19896112 chr7 145819805 145819905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145853798 145885593 Gain Autism qPCR 20531469 chr7 145857231 145890666 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 145866579 145888286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 14588578 14588678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145895618 145895718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145899809 145900927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 145952502 145952602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 145954925 145954993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146059148 146251008 Gain Autism qPCR 20531469 chr7 146060000 146360000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr7 146099548 146597809 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 146100147 146100242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146120000 148200000 Loss Acute lymphoblastic leukemia - 21339820 chr7 146167162 148095608 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 146179259 146237754 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 146202562 146202657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146224622 146224718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 146240646 146338977 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr7 146244149 146244249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146273604 146273709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1463147 1727907 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 146343347 146388333 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 146346794 148095608 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 146382401 146542900 Deletion Glioma mate-paired sequence 20126413 chr7 146389067 146389588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 146406088 146428984 Loss Normal 244K array 17666407 chr7 146436233 146436298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146458392 146468351 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr7 146458613 146458713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 14647379 14647438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 14647379 14647458 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 146499287 146529681 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 146507274 146507369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146514890 146515102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 1 46600000 Amplification Biliary cancer Array CGH 19435499 chr7 1 46600000 Copy number Cancer ICA method 16751803 chr7 1 46600000 Loss Invasive pancreatic ductal carcinoma array CGH 16982739 chr7 146619135 146732506 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 146626586 146638597 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 146642431 146643528 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 146666000 146723687 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 146675446 146675503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 14670117 15073026 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 146706042 146706146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 146763601 146831000 Deletion Glioma mate-paired sequence 20126413 chr7 146799971 146800071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 46805718 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr7 146837991 146838089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146844713 146844745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146879220 146879319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146899446 146899546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146933074 146933174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 146966510 146966615 Gain and loss Pancreatic cancer SNP array 17952125 chr7 146967978 158821424 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr7 146985986 146986298 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 147034093 147589422 LOH Normal High-resolution SNP genotyping 21211785 chr7 14704695 15152977 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 147056431 147056531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147074744 147075041 Gain and loss Pancreatic cancer SNP array 17952125 chr7 147159799 147159902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147235259 147235291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147268029 147268324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147268029 147268326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147275392 147275492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147296601 148182100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 147302847 147302947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147372285 147372375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147440807 147473096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 147477801 147521522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 147500000 152200000 Copy number Normal - 21701786 chr7 147500000 152200000 Deletion Heart disease Illumina 616Quad Beadchip platform 21282601 chr7 147500000 152200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 147500000 152200000 Gain Breast cancer aCGH 21045282 chr7 147500000 152200000 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 chr7 147500000 152200000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr7 147500000 154700000 Genomic rearrangement Lobular carcinoma SALSA-MLPA LQTS Kit 20920651 chr7 147500000 158821424 Loss Malignant fibrous histiocytomas aCGH 21085701 chr7 147510944 147513905 Loss Normal 244K array 17666407 chr7 147524384 147524598 Gain and loss Pancreatic cancer SNP array 17952125 chr7 147524390 147524599 Gain and loss Pancreatic cancer SNP array 17952125 chr7 147524788 147524853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147533556 147533631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147573084 147573326 Gain and loss Pancreatic cancer SNP array 17952125 chr7 147585623 147585773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147585787 147585909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147625316 147625416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147635607 147661615 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 1476439 1510772 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1476439 1510772 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147661615 149235846 LOH Normal High-resolution SNP genotyping 21211785 chr7 147683028 147684310 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 147702918 147707917 Loss Normal TaqMan assays 20972442 chr7 147703797 147707256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 147703939 147707355 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 147704001 147707000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 147707689 147707788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147715141 147715540 Gain and loss Pancreatic cancer SNP array 17952125 chr7 147717671 147717883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147725305 147750599 Gain and loss Pancreatic cancer SNP array 17952125 chr7 147734226 147734326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 147742495 147742550 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 147766369 147766611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147771922 147772332 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14781556 14781673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147833581 147935849 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14785697 158821424 Gain Wilms tumour 250K Genotyping Arrays 21544195 chr7 147900000 152600000 Amplification Colorectal cancer GISTIC software 19359472 chr7 147900000 152600000 Copy number Bradycardia syndrome references 17576883 chr7 147900000 152600000 Copy number Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr7 147900000 152600000 Loss Long-qt syndrome references 17576883 chr7 147900000 159138663 Gain Sudden cardiac death CGH 19188705 chr7 147908426 147908825 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 147908426 147908825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147918590 147943884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 147918590 147943884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147919045 147919133 Gain and loss Pancreatic cancer SNP array 17952125 chr7 147942123 148019062 Gain and loss Pancreatic cancer SNP array 17952125 chr7 147965207 147965617 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 147965207 147965617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 147971992 147972050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148025007 148025252 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148025939 148129134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148025939 148129134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148026865 148129135 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148027517 148157304 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 148076228 148076311 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148098055 148098147 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148098055 148098148 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148112330 148112418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148118495 148118594 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148118495 148118595 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148121877 148121988 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148121878 148121988 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148135407 148212347 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148135408 148212347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148135408 148212347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148136000 148284000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr7 148137804 148163390 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148167792 148167906 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148167793 148167907 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148177316 148177401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148205163 148225435 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148205358 148205458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148218227 148218540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148218292 148218537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148233966 148234066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148256103 149015950 LOH Normal High-resolution SNP genotyping 21211785 chr7 148260431 148260726 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148269513 148269596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148276501 148523500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 148282466 148317767 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148286972 148287065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148291340 148291435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148305146 148305296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148311780 148311881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148315161 148315273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148330202 148360975 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148331086 148356715 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148331086 148356715 Copy number Lung cancer - 20668451 chr7 148331086 148356715 Gain or loss Breast cancer - 20668451 chr7 148331086 148356715 Gain or loss Cancer - 20668451 chr7 148331086 148356715 Gain or loss Lung cancer - 20668451 chr7 148331086 148356715 Gain or loss Ovarian cancer - 20668451 chr7 148331086 148356715 Gain or loss Pancreas cancer - 20668451 chr7 148331086 148356715 Gain or loss Prostate cancer - 20668451 chr7 148331098 148356715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148331098 148356715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148355669 148355751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 148361082 148361192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148374390 148390334 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14838172 14838272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148381986 148382198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148397637 148409232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148397637 148409232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148397665 148418802 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148397665 148418802 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 148401239 148433373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 148411809 148478159 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 148414851 148478159 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 148416760 148419724 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148430813 148454311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148430813 148454311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148449108 148449419 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 148453716 148454011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148453718 148454011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148461681 148461744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 148475492 148511051 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148475751 148511052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148475751 148511052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148485701 157796100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 148491393 148491468 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148514918 148515018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148523487 148554260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148523487 148554260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148523501 148525000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 148523509 148554272 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148525001 148608000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 148540803 148540874 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1485578 1485662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 148566158 148595615 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148567675 148583619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148567675 148583619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148567706 148583621 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148582356 148582896 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 148590194 148625325 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148590195 148625325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148590195 148625325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148600000 158550000 Deletion renal disease Array CGH, FISH 17924346 chr7 148607535 148632548 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148608001 148625000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 148649889 148650116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148662048 148662881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148666727 150016115 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 148684678 148684753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148693549 148759304 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148734011 148734082 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148734088 148734159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148759394 148788986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148759394 148788986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 14876945 14877262 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 14876945 14877262 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 148773162 148773228 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148800816 148825831 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148800820 148825727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148800820 148825727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148849796 148869310 Gain and loss Pancreatic cancer SNP array 17952125 chr7 14885014 14885537 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 148875177 148952814 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 148875178 148952776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 148875178 148952776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148879238 149394063 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 148899103 148907943 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148910779 148949550 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148916880 148942383 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr7 148920397 148941499 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 148927296 148927367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 14892937 14927233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 1489501 1539500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 148958990 148961758 Gain and loss Pancreatic cancer SNP array 17952125 chr7 148966447 148966513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 148980926 148999021 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149000 9749000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr7 149007705 149015434 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149041501 149064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149043080 149062597 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 149043081 149062597 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149043081 149062597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149064501 149102000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149092388 149101228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149092388 149101228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149102001 149157000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149104063 149161986 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 149104457 149114966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149106042 149304235 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 149114241 149127103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149116632 149190232 Gain Normal 244K array 17666407 chr7 149150127 149162001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149157001 149189000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149163120 149163205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 149166338 149202860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 149166442 149195498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149166442 149195498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149175068 149175175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 149189001 149193500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149190618 149236723 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 149193501 149206000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149195717 149201884 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 149195719 149201864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149195719 149201864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149200989 149208720 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 149200990 149208720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149200990 149208720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149206001 149210500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149210501 149361500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149214313 149280101 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 149235210 149235310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 149236723 149425987 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 149268 158588112 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr7 149268 1973885 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 chr7 149287917 156108893 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-570K arrays 21546498 chr7 149295984 149325471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 149297 57562112 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr7 149361501 149370500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149374751 149377000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149383723 149430033 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149414000 149436594 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 149425988 149435586 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 149435587 149461172 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 149438532 149438670 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 149446069 149446192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 149458028 149472886 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149464524 149467456 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149473056 149476366 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149478576 149480061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 149481208 149481308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 149491489 149491572 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149493466 149513725 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 149501 187000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149505509 149508772 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149514098 149533365 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149542348 149542959 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1495474 1495474 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 149575234 149651691 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 149575234 152183396 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 149575235 149631002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149575235 149631002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149585772 149614128 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149613292 153413406 LOH Normal High-resolution SNP genotyping 21211785 chr7 149647295 149648529 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149649611 149655808 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149651346 149666171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149651346 149666171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149657501 149664500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149658334 149660741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149658334 149660741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149664501 149668500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149666351 149669696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149666351 149669696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149684774 149684857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149689597 149901452 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 149691754 158821424 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-557K arrays 21546498 chr7 149696001 149698500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149696812 149702066 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149696812 149702066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149698501 149743500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 149702106 149708688 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149707338 149726652 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 149707339 149726652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149707339 149726652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149760114 149767055 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149778895 149807413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149778895 149807413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149820442 149828373 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149840679 149841666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149842878 149849093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149842878 149849093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149851346 149856529 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149872148 149878384 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149881711 149882461 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149895391 149901973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149895391 149901973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149911122 149911193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 14991528 14992224 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149916734 149932502 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 149916734 149932502 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 149926038 149936098 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149930206 149959259 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 149930206 149971144 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 149931962 149937375 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 149931990 150094737 Copy number Congenital long qt syndrome References 19214780 chr7 149935486 149939853 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149953399 149960406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 149953399 149960406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 149976247 150159234 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149976469 150101345 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 149987240 149996025 Gain and loss Pancreatic cancer SNP array 17952125 chr7 149990797 150011343 Loss Normal 244K array 17666407 chr7 149998325 150391833 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 150013726 150049186 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 150013727 150021659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150013727 150021659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150022828 150357477 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 150044631 150049814 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150044631 150049814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150065384 150071669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150065384 150071669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150075080 150075746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150079700 150112662 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150093983 150094323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 150119313 150128554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150119313 150128554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150125795 150149323 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150128771 150133138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150128771 150133138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 15013183 15374880 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150163158 150187488 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150170460 150268937 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 150180506 150189312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150180506 150189312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150188547 150192644 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150194387 150211257 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150202654 150233593 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 150211328 150215599 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150215821 150218268 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150219239 152619553 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr7 150221474 150279171 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150238171 150238471 Gain Chordoma References 21215367 chr7 150250515 150251515 Gain Chordoma References 21215367 chr7 150270001 150471000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 150270346 150270446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 150272982 150306335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150272982 150306335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150275058 151470304 Amplification Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 chr7 150283324 150283743 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150310433 150322126 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150319080 150342608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150319080 150342608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150325781 150339566 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150340238 150352519 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150340268 150352519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150340268 150352519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150342571 150361965 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150348501 150351900 Deletion Glioma mate-paired sequence 20126413 chr7 150349939 150350425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 150355396 150355448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 150356482 150373582 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150356482 150373582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150367233 150373553 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150370263 150937377 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 150373707 150411873 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150376780 150380773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150376780 150380773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150381832 150385929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150381832 150385929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150381835 150385985 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150387589 150404547 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150389271 150404542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150389271 150404542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150391833 151096113 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 150395694 158605053 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 150404640 150408884 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150404641 150408884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150404641 150408884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150409105 150411553 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150409106 150411503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150409106 150411503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150414758 150472456 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150414759 150472456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150414759 150472456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150453261 150453361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 150471001 150790500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 150476547 150513178 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150476609 150495800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150476723 150476809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150503718 150515742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150503718 150515742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150508452 150508889 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150514412 150514897 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150515855 150545388 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150518899 150533473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150518899 150533473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150522577 150531582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 150535856 150555250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150535856 150555250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150540508 150555250 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150543701 150723265 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 150550762 150937377 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 15055764 15058713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 150560517 150566838 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150560518 150566838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150560518 150566838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150564705 150574747 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150566440 150566557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150566665 150600290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 150566995 150605164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150566995 150605164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150572557 150607595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 150599385 150599671 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150600747 150654655 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150627662 150628068 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 150644547 150644636 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 150655057 150655138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 150661856 150679071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 150669790 150706465 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150669791 150706463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150669791 150706463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150677022 150677054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 150688915 150689058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 150690862 151011443 Gain and loss Pancreatic cancer SNP array 17952125 chr7 150695583 150695671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 150700000 151440000 Gain Breast cancer aCGH 21509527 chr7 150709140 150738057 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150709140 150738057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150744973 150758037 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 150744973 150760802 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 150749537 150760802 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 150757990 150768032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150757990 150768032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150792670 150792956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150794030 150847943 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 150794032 150847943 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150794032 150847943 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150801149 150802149 Gain Cancer Human 24 color M-FISH 21215367 chr7 150801149 150802149 Gain Chordoma References 21215367 chr7 150837060 150837360 Loss Chordoma References 21215367 chr7 150839672 150839771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 150847001 150849000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 150854923 150854955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 150861131 150862776 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 150865799 150865899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 150884133 151205249 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr7 150884133 151205249 Gain or loss Breast cancer - 20668451 chr7 150884133 151205249 Gain or loss Cancer - 20668451 chr7 150884133 151205249 Gain or loss Lung cancer - 20668451 chr7 150884133 151205249 Gain or loss Ovarian cancer - 20668451 chr7 150884133 151205249 Gain or loss Pancreas cancer - 20668451 chr7 150884133 151205249 Gain or loss Prostate cancer - 20668451 chr7 150884136 151205249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 150884136 151205249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 150897299 150898299 Gain Cancer Human 24 color M-FISH 21215367 chr7 150897299 150898299 Gain Chordoma References 21215367 chr7 15093427 15230116 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 15094342 15094447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 150943520 150943552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151006001 151228000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 151030445 151030530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151035001 151035100 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151051060 151051153 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151051061 151051146 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151065338 151065428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151087783 152087783 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 151091159 151154661 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151148451 151148666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 151159927 151160208 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151160512 151257072 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151192987 151193087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151203635 151203738 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151227871 151227969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151228293 151228392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151244345 151244436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151262707 151264883 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151271317 151570699 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151276111 151276437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 151284444 151347946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 151284444 151347946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151290020 151290450 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 151302132 151302307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 151336228 151336330 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 15134918 15135007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151350000 151430000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr7 151353212 151353493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151354000 151375306 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 15135402 15135462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 151354137 151531740 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 151356897 151356997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151396920 151397023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151400902 151556513 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 151407293 151450178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 151407293 151450178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151407323 152089322 Gain Bladder cancer array-CGH 21909424 chr7 151456985 151457708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 151456985 151457708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151462947 151764023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 151462947 151764023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151477446 151580599 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 151508000 151530038 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 151511518 151511597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151520853 151520903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151532774 151539767 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 151537513 151537624 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151537524 151537624 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151547929 151547999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151548444 151548534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151556242 151556342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15156219 15156319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151563501 151578000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 151579970 151581996 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151591001 151621000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 151606466 151606541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151672444 151672543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151686560 152069929 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr7 151694985 151695278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151704001 151723500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 151713332 151713662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 151721324 151755980 Duplicationlicaiton Normal TaqMan assays 20972442 chr7 151727706 151727824 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151727708 151727823 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151729501 151745000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 151730663 151730749 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151764913 151771034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 151764913 151771034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151767239 151767326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 15177122 15177207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151773257 151775287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 151773257 151775287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151781237 151810898 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151782506 151782606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151812427 151846050 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 151825924 151826016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151855944 151856044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 151874601 151879000 Deletion Glioma mate-paired sequence 20126413 chr7 151876276 151877238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 151884328 151884471 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151892395 151892684 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151894527 151990104 Gain and loss Pancreatic cancer SNP array 17952125 chr7 151898000 151920146 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 151910501 151917100 Deletion Glioma mate-paired sequence 20126413 chr7 151912626 151915238 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 151918659 151918959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151920991 151921109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151923176 151928165 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 151923948 151924034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151930237 151930912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151937331 151937452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 151944000 151964047 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 15196224 15196381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 15196224 15196383 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 151974519 152004183 Gain or loss Breast cancer - 20668451 chr7 151974519 152004183 Gain or loss Cancer - 20668451 chr7 151974519 152004183 Gain or loss Lung cancer - 20668451 chr7 151974519 152004183 Gain or loss Ovarian cancer - 20668451 chr7 151974519 152004183 Gain or loss Pancreas cancer - 20668451 chr7 151974519 152004183 Gain or loss Prostate cancer - 20668451 chr7 151974522 152004183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 151974522 152004183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 15200000 19500000 Amplification Biliary cancer Array CGH 19435499 chr7 15200000 19500000 Copy number Normal - 20680643 chr7 15200000 19500000 Copy number Normal - 21701786 chr7 15200000 19500000 Copy number Squamous cell cancer aCGH 20885788 chr7 15200000 19500000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr7 15200000 19500000 Deletion Heart disease Illumina 613Quad Beadchip platform 21282601 chr7 15200000 19500000 Duplication Heart disease Illumina 614Quad Beadchip platform 21282601 chr7 15200000 19500000 Microdeletion Rubinstein-Taybi syndrome aCGH 22470819 chr7 15200000 24900000 Copy number Squamous cell cancer aCGH 20885788 chr7 15200000 24900000 Deletion Abnormal phenotypes Array-CGH 18644119 chr7 15200000 35600000 Microdeletion Non-syndromic sensorineural hearing loss Array CGH 22570644 chr7 15200000 57400000 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 chr7 152000918 152034905 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 152008784 152023466 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 152020000 152800000 Loss Acute lymphoblastic leukemia - 21339820 chr7 152050333 152050648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 15206467 15568165 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 15206468 15568165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 15206468 15568165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 152077002 152077741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 152085680 152085967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 152085680 152085969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 152087784 152183396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 152087784 152183396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 152095047 152095142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 152102637 153356944 Duplication Autism Array CGH 22102821 chr7 152135252 152147233 Amplification Glioblastoma multiforme Array CGH 19115005 chr7 152196997 152229638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 152198879 152199034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152200000 154700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 152200000 154700000 Copy number Normal - 21701786 chr7 152200000 154700000 Duplication Nasopharyngeal cancer CNV partition 20548289 chr7 152200000 154700000 Duplication Nasopharyngeal cancer Partek Segmentation 20548289 chr7 152200000 154700000 Loss Splenic marginal zone lymphoma 44k aCGH 18492102 chr7 152205697 152282439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152207616 152252770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 152229180 152236148 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 152236148 152247032 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 152268416 152268516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 152272434 152294643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 152307684 152321009 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 15231013 15231113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 152339402 152339778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152438821 152736427 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 152461575 152467658 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 152461589 152462589 Gain Chordoma References 21215367 chr7 152472331 152472606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 152504234 152526479 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 152518695 152552944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 152525686 152731588 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 152531811 152567129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 152544261 152545844 Gain and loss Pancreatic cancer SNP array 17952125 chr7 152545581 152663651 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 152545967 152548696 Gain and loss Pancreatic cancer SNP array 17952125 chr7 152566427 152736427 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 152570023 152570084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 152588427 152588504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 152600000 155100000 Copy number Autism Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 152600000 155100000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 152600000 155100000 Copy number Tourette syndrome Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 152600000 155100000 Deletion Amyotrophic lateral sclerosis HumanHap 300, HumanHap 550,HumanCNV 370 and the HumanHap 610 20685689 chr7 152629805 152664770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 152631016 152631161 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152661746 152674470 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 152695407 152695461 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152777447 152777893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 152796935 152797185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152800526 152800611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 152801651 152802439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152814708 152814830 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152825444 152825655 Copy number Normal Paralogue Ratio Test systems 17175532 chr7 152831155 153195879 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 152869362 152869447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 152918872 153711308 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr7 152927039 152927112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152931399 153195879 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 152939101 152943600 Deletion Glioma mate-paired sequence 20126413 chr7 152941061 152941750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 152961768 152963365 Gain Normal 244K array 17666407 chr7 152967375 153854974 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 152986758 152986858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 153024497 153025497 Gain Chordoma References 21215367 chr7 153035303 153035397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 153040000 159120000 Loss Breast cancer aCGH 21509527 chr7 153044643 153144219 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 153118877 153284978 Copy number Normal - 20703242 chr7 153118877 153284978 Duplication Nasopharyngeal cancer PennCNV 20548289 chr7 153118877 153284978 Duplication Nasopharyngeal cancer QuantiSNP 20548289 chr7 153118877 153487764 Gain Autism qPCR 20531469 chr7 153130910 153299551 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 153155415 153283551 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 153160697 153160766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 153187554 154123642 Gain and loss Pancreatic cancer SNP array 17952125 chr7 153199562 153200562 Gain Chordoma References 21215367 chr7 153215000 154316000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 153215115 154316928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 153215115 154316928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 153227911 153228006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 153240841 153285108 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 153281647 153281747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 153283087 153303908 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 153286 2760544 Deletion Breast cancer FISH 17142309 chr7 153294075 153487623 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 153296683 153296844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 153299551 153302383 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 153332837 153468471 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 153379001 153392500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 153389490 153390028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 153413406 153444870 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 153444870 158821424 LOH Normal High-resolution SNP genotyping 21211785 chr7 153451569 154285634 Deletion Autism Array CGH 22102821 chr7 153495598 153564827 Duplication Attention deficit hyperactivity disorder - 22138692 chr7 153497331 158821424 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 153541205 153542205 Loss Chordoma References 21215367 chr7 153550412 153552898 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 153563410 153563617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 153584980 153585050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 153588034 154254473 Loss Autism Exome sequencing and CGH 22495309 chr7 153589290 153605132 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 153593507 153605132 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 153593507 153621064 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 153644328 153644413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 153646911 153647011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15366727 15366827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1536867 1549204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1536893 1549205 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 1536894 1549205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1536894 1549205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 153709547 153710547 Loss Chordoma References 21215367 chr7 153741353 153757089 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 153742175 153788452 Loss Autism qPCR, Illumina1M 20531469 chr7 153742848 153764560 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 153742848 153764798 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 153742848 153767488 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 153742848 153771774 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 153775586 153844747 Loss Autism qPCR, Affy 500K(Marshall et al.2008), Agilent 1M 20531469 chr7 153783001 153787900 Deletion Glioma mate-paired sequence 20126413 chr7 153784745 153786002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 153816348 153858848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 153820553 153854408 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 153822994 153858779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 153825347 153864881 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 153827749 153854222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 153836592 153837592 Loss Cancer Human 24 color M-FISH 21215367 chr7 153836592 153837592 Loss Chordoma References 21215367 chr7 153838854 153839854 Loss Chordoma References 21215367 chr7 153853562 153867752 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 15385488 15385588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15387862 15387962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15388736 15388836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 53900000 Amplification Biliary cancer Array CGH 19435499 chr7 1 53900000 Amplification Esophageal squamous carcinoma CGH 21637470 chr7 1 53900000 Amplification Glioblastoma multiforme CGH 17387387 chr7 1 53900000 Gain Astrocytoma CGH 17387387 chr7 153915516 153949645 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 15392876 15393876 Loss Osteosarcoma References 21215367 chr7 1539501 1567500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 153965871 153966052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 153966058 153966214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15397545 19006302 Gain Bladder cancer array-CGH 21909424 chr7 153985764 153985864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154016952 154031950 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 154020829 154031949 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 154022568 154031567 Deletion Normal TaqMan assays 20972442 chr7 154024092 154036398 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 154024104 154031766 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 154024104 154031766 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 154032214 154032295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154079330 154080209 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 154082843 154083458 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 154139000 154139087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154170736 154170836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154173049 154232306 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154217873 154217973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154236380 158427693 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 chr7 154240405 154240461 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 15424083 15499446 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154274501 154341000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 154299682 154315107 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154300000 158800000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr7 154305924 154306631 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 154307724 154325667 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 154351160 154368041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154363149 154411438 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 154366000 154425000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 154366330 154425727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 154366330 154425727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154377657 154377757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154411239 154411486 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154411239 154411569 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154447743 154447843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154470874 154470974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154489710 154494200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154492967 154508392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 154492967 154508392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154493000 154508000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 154498017 154498098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154507924 154511552 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 154516181 154520428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 154525400 154525500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154527191 154539586 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154529043 154529294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154541353 154541403 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 154561201 154565000 Deletion Glioma mate-paired sequence 20126413 chr7 154561486 154561586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154563057 154563408 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 154572849 154573177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 154604524 154604827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154618289 154618383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154619330 154621079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154621001 155080000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 154641891 154642891 Gain Chordoma References 21215367 chr7 154673081 154673171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154685736 154685981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 154700000 158821424 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr7 154700000 158821424 Copy number Normal - 21701786 chr7 154700000 158821424 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 154700000 158821424 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr7 154700000 158821424 Gain Breast cancer Array CGH 16608533 chr7 154706151 154706251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154710156 154710245 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 154716562 154716655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154720000 154732000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 154720476 154732877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 154720476 154732877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154748891 154756971 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154767345 154799157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 154777188 154777288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154793303 154862830 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154831401 154835700 Deletion Glioma mate-paired sequence 20126413 chr7 154832280 154832576 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 154833701 154834302 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 15483579 16090751 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 15483579 16331363 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 1548396 1562592 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 1548398 1562592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1548398 1562592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154842441 154853390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154858025 154858206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154858205 154858413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154858213 154858301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154867532 154881812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154872335 154872477 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 154876017 154924521 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr7 154935047 154935113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154936621 155037888 Gain and loss Pancreatic cancer SNP array 17952125 chr7 154943000 154950000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 154943585 154950279 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 154943585 154950279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 154953829 154953929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 154959662 155019318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 155038756 155073649 Gain and loss Pancreatic cancer SNP array 17952125 chr7 155039769 155039857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155040484 155040584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155066032 155066132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155084762 155084846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155095034 155104443 Gain and loss Pancreatic cancer SNP array 17952125 chr7 155096686 155129856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 155100000 159138663 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr7 155100000 159138663 Loss Fibroblasts Bacterial Artificial Chromosome Array CGH 17951408 chr7 155100000 159138663 Loss Lung cancer Bacterial Artificial Chromosome Array CGH 17951408 chr7 155103092 155103172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155104832 155224660 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 155129000 155266000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 155129906 155266940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 155129906 155266940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 155164573 155187592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 155166374 155196331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 155168485 155207427 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 155185106 155696634 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 155210426 155210506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1552322 1562592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 155234645 155234731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155239 155428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 155272501 155662500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 155285496 155297728 Copy number Lung cancer - 20668451 chr7 155285496 155297728 Gain or loss Breast cancer - 20668451 chr7 155285496 155297728 Gain or loss Cancer - 20668451 chr7 155285496 155297728 Gain or loss Lung cancer - 20668451 chr7 155285496 155297728 Gain or loss Ovarian cancer - 20668451 chr7 155285496 155297728 Gain or loss Pancreas cancer - 20668451 chr7 155285496 155297728 Gain or loss Prostate cancer - 20668451 chr7 155285496 155297728 Microdeletion Holoprosencephaly FISH 16199538 chr7 155288000 155297000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 155288319 155297728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 155288319 155297728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 155332444 155332541 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 155357346 155357462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 155377534 155378101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 155386030 155490447 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr7 155417601 155422100 Deletion Glioma mate-paired sequence 20126413 chr7 155441239 155453100 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 155448090 155451798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 155478294 155478392 Gain and loss Pancreatic cancer SNP array 17952125 chr7 155478294 155478393 Gain and loss Pancreatic cancer SNP array 17952125 chr7 15549917 15550005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 1 55512218 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr7 155561640 155561725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155561989 155562080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155563106 155563168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155573201 155581500 Deletion Glioma mate-paired sequence 20126413 chr7 155618953 155619045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 155638208 155638350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 155654314 155654372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155658864 155925343 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 155671577 155671678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 15568375 15569375 Gain Osteosarcoma References 21215367 chr7 155690845 155690940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15570337 15571337 Loss Osteosarcoma References 21215367 chr7 155737303 155737403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1557474 1559960 Gain and loss Pancreatic cancer SNP array 17952125 chr7 15578703 15579703 Gain Osteosarcoma References 21215367 chr7 15578929 15579929 Loss Osteosarcoma References 21215367 chr7 155869605 155894611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 155881227 155881327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155930893 155930993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155931599 155932733 Gain and loss Pancreatic cancer SNP array 17952125 chr7 155932877 155969294 Gain and loss Pancreatic cancer SNP array 17952125 chr7 155933996 155934073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155949628 155980157 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 155966226 155966279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 155973047 156185337 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156003288 156003388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156030379 156030471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156075758 156089266 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 156075758 156089266 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 156079842 156087139 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 156079934 156087081 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 156082751 156083086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 156084551 156086940 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 156084551 156086940 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 156107010 156107110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156117523 156162585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 156117523 156162585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156118810 156119199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156125001 156126500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 156125459 156126109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156126000 156162000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 156126161 156162581 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 156128383 156128473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156164248 156164388 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156164248 156164391 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156166000 156378000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 156166330 156378663 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 156166332 156378663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 156166332 156378663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 15617368 15692833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 15617368 15692833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156214531 156219409 Amplification or deletion Cancer Array CGH 17440070 chr7 156222318 156248512 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 156242445 156262460 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156253638 156253670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156255813 156255913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156280715 156314293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 156290538 156290638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156297023 156302701 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156301923 156302023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156327376 156327892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 156346562 156346662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156357533 156357673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156431140 156561538 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156435000 156458000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 156435178 156458634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 156435178 156458634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156441079 156441179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156446923 156447001 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156447931 156448444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156479506 156496108 Gain or loss Breast cancer - 20668451 chr7 156479506 156496108 Gain or loss Cancer - 20668451 chr7 156479506 156496108 Gain or loss Lung cancer - 20668451 chr7 156479506 156496108 Gain or loss Ovarian cancer - 20668451 chr7 156479506 156496108 Gain or loss Pancreas cancer - 20668451 chr7 156479506 156496108 Gain or loss Prostate cancer - 20668451 chr7 156488001 156508000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 156489770 156490675 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156490000 156494000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 156490308 156496108 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 156490308 156496108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156496361 156501880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156508001 156627500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 156547005 156553485 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156550536 156550625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156579745 156590960 Gain Normal 244K array 17666407 chr7 156596558 156596788 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156618082 156621369 Loss Normal 244K array 17666407 chr7 156624000 156754000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 156624415 156754827 Gain or loss Breast cancer - 20668451 chr7 156624415 156754827 Gain or loss Cancer - 20668451 chr7 156624415 156754827 Gain or loss Lung cancer - 20668451 chr7 156624415 156754827 Gain or loss Ovarian cancer - 20668451 chr7 156624415 156754827 Gain or loss Pancreas cancer - 20668451 chr7 156624415 156754827 Gain or loss Prostate cancer - 20668451 chr7 156624425 156754823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 156624425 156754823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156640208 156640286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156650743 156708268 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156680451 158620885 Loss Barrett's syndrome BAC array 19417022 chr7 156731244 156749375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1567501 1767000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 156753501 156761500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 156754154 156762920 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156761501 156779000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 156767718 157531741 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 156789843 156790073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156817953 156819495 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156822000 156871000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 156822461 156902891 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 156822461 156902891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 156831227 157879837 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156849831 157112954 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 156866504 156866590 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156881501 156886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 156886001 157132000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 156893473 158821424 Deletion Cancer Affymetrix 250K Sty array 20164920 chr7 156916044 156916103 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 156916044 156916103 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 156948248 156950433 Gain Normal 244K array 17666407 chr7 156977652 157004317 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156978479 156978579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 156981064 157003317 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156989131 157078196 Gain and loss Pancreatic cancer SNP array 17952125 chr7 156989700 157112954 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 156993620 157014041 Gain Normal 244K array 17666407 chr7 157011238 157012780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 157012715 157047727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 157024000 158073000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 157024511 158073241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 157024511 158073241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 157031127 157043601 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 157031128 157043601 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 157037231 157037321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157059789 157059875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 15707585 15707902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 157080916 157081059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157099476 157104218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 157102020 157102120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157127339 157127416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157132001 157135500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157135501 157231500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157150773 157237959 Gain and loss Pancreatic cancer SNP array 17952125 chr7 157153628 157153728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157170253 157170298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157183573 157265112 Gain and loss Pancreatic cancer SNP array 17952125 chr7 157195902 157196000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157231501 157235500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157235501 157544000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157268751 157287998 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157268751 157291351 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157289971 157290056 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157294657 157294789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157335482 157349516 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157337266 157392524 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 157341901 157346900 Deletion Glioma mate-paired sequence 20126413 chr7 1573494 1576155 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 1573494 1576194 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 1573495 1576155 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 157349528 157392524 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 1573498 1577167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1573498 1577167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 157350779 157351009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157350815 157368999 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 157374819 157590205 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 157376109 157395450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 157385731 157385831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157387155 157387334 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157387155 157387406 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 1 57400000 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chr7 157405851 157495760 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 157411626 157411805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157422309 157433234 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157423034 157496472 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157424401 157428700 Deletion Glioma mate-paired sequence 20126413 chr7 157425165 157496472 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157427413 157427663 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157427591 157427646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157437825 157437895 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 157442003 157446689 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 157445272 157445372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157448564 157448785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157448775 157448994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157502743 157532882 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 157518595 157518652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157521662 157521761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157522207 157522307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157531741 158106145 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 157540949 158348765 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 157544001 157545500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157545501 157555500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157555501 157557500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157557501 157819000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157558205 157558729 Gain and loss Pancreatic cancer SNP array 17952125 chr7 157571501 157576000 Deletion Glioma mate-paired sequence 20126413 chr7 157603023 157640293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 157618017 157677340 Gain Normal 244K array 17666407 chr7 157634704 157647673 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157638633 157783490 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr7 157652212 157652978 Gain and loss Pancreatic cancer SNP array 17952125 chr7 157700928 157700962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157720201 157725100 Deletion Glioma mate-paired sequence 20126413 chr7 157721669 157721741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157722236 157723209 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157722605 157722688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157726 225446 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157737824 157852317 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 157739328 157740070 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157761679 157761884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157762735 157762841 Gain and loss Pancreatic cancer SNP array 17952125 chr7 157764666 157892583 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr7 157796101 158327400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157803062 157924916 Loss Stenocardia MACArray Karyo 99K BAC-chips 21860640 chr7 157803062 157924916 Loss Vasospasm MACArray Karyo 99K BAC-chips 21860640 chr7 157808534 157809100 Gain and loss Pancreatic cancer SNP array 17952125 chr7 157810007 157835787 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 157810308 157835799 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 157810308 157852317 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 157810312 157824926 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 157810312 157824926 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 157819001 157826500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 157819444 157826039 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 157820039 157820112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157820369 157828925 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 157820381 157828925 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 157826501 158063500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 1 57834342 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr7 157835950 158497633 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 157846567 157846824 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 157871360 157871410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157876663 157876763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 157878691 157953527 Gain Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 chr7 157880000 158370000 Gain Breast cancer aCGH 21509527 chr7 157910622 157910721 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 157914446 157915147 Gain and loss Pancreatic cancer SNP array 17952125 chr7 157919888 157920856 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 157923485 157996939 Gain and loss Pancreatic cancer SNP array 17952125 chr7 157938613 157938916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157942994 157943307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157953485 157973350 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157954188 157973350 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157956020 157956126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 157957951 157984922 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 157963956 158377301 Insert Cancer ultra-high resolution array CGH 21272361 chr7 157981650 157981863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 157991900 157992000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 58000000 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chr7 158018171 158018266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 158019466 158019765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158023165 158121795 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1 58047095 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 158049457 158049557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158087667 158821424 LOH Normal High-resolution SNP genotyping 21211785 chr7 158087839 158087929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158107731 158108432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 158107731 158108432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 158116000 158190000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 158116763 158190281 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 158116764 158190281 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 158116764 158190281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 158121856 158121909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158140443 158821424 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-554K arrays 21546498 chr7 158147762 158167164 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 158147762 158173209 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 158147762 158174588 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 158148745 158237946 Gain and loss Pancreatic cancer SNP array 17952125 chr7 158152774 158153800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158189589 158189657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158193346 158221229 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 158193508 158197522 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158202493 158208524 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr7 158205182 158205613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 158205182 158205613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 158216000 158315000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 158216450 158315080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 158216450 158315080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 158218999 158219357 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 158271648 158347407 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 158282153 158291851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 158282474 158282523 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158309066 158309144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158320343 158437125 Gain and loss Pancreatic cancer SNP array 17952125 chr7 158327401 158821424 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 158342000 158431000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 158342030 158431643 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 158342030 158431643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 158378142 158378242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158379087 158379158 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158404924 158438182 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 158421853 158421953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158430001 158615500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 158448321 158605936 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 158497375 158497427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158513000 158630000 Deletion Congenital anomalies of the kidney and urinary tract array-CGH 20605837 chr7 158513626 158630410 Amplification Intellectual disability 100k SNP Array 21811512 chr7 158513626 158630410 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 158513626 158630410 Copy number Colorectal cancer FISH 20884623 chr7 158513628 158630410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 158513628 158630410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 15851975 15852391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158519992 158520281 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 158529021 158605053 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 158567693 158567725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158605337 158605433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158617233 158628005 Loss Normal 244K array 17666407 chr7 158647654 158647797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158647730 158647873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158683151 158683251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158691589 158692137 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 158694533 158694614 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 158701817 158810207 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 158716886 158718828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 158720900 158725899 Loss Normal TaqMan assays 20972442 chr7 158731401 158810016 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 158739570 158762393 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 158771236 158771336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158782898 158812469 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 158789067 158789141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158797797 158812469 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 158798338 158819766 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 158799246 158799415 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158800010 158801153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158801152 158812469 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 158802671 158817340 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 158805863 158805953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 158810254 158819765 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 158810284 158815770 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 158810402 158812015 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 158810642 158812469 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 158820866 158937649 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 158860514 158821424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15900000 59100000 Amplification Biliary cancer Array CGH 19435499 chr7 15900000 59100000 Gain Cancer array-based techniques 21183584 chr7 159047661 158821424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 59100000 Copy number Glioma multiple ligation-dependent probe amplification 21971842 chr7 1 59100000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr7 1 59100000 Gain colon cancer comparative genomic hybridization 17210682 chr7 1 59100000 Gain Glioblastoma multiforme aCGH 21080181 chr7 1 59100000 Gain Glioblastoma multiforme conventional CGH 21080181 chr7 1 59100000 Gain Liposarcoma FISH, CGH 21253554 chr7 1 59100000 Gain Medulloblastoma SNP arrays 21979893 chr7 1 59100000 Gain Normal Human genome CGH 37k ARRAY PLATFORM 22144094 chr7 1 59100000 Gain Oligodendroglial tumors CGH 17285580 chr7 1 59100000 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr7 1 59100000 Gain or loss Endometrial cancer CGH 22040021 chr7 1 59100000 Loss Breast cancer aCGH 21264507 chr7 15933633 15933707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15957110 15957210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15965575 15992646 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 15970408 15970508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 15984026 16007340 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 15988936 15989989 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 1 59900000 Amplification Colorectal cancer GISTIC software 19359472 chr7 1 59900000 Copy number Hypothalamic hamartomas GeneChip Mapping 10K Array 18252217 chr7 1 59900000 Gain Human rectal carcinomas oligonucleotide Array CGH 16397240 chr7 1 59900000 Gain Peripheral t-cell lymphoma Array-based CGH 19118030 chr7 1 59900000 Loss Medulloblastoma Array CGH 18056178 chr7 15991391 16005193 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 16002674 16003674 Loss Osteosarcoma References 21215367 chr7 16028931 16234010 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr7 16028931 16234010 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16046062 16300630 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 16075731 16075783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 160848 163742 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 16084942 16084998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 16097683 16427472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 16097683 16427472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16097785 16427472 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 16127873 16366347 Loss Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 16136201 16142500 Deletion Glioma mate-paired sequence 20126413 chr7 16137684 16141037 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 16137684 16141037 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 16138299 16140597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 16138321 16140500 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 16171932 16205832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 1620752 1621487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16215095 16215415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16222136 19648978 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr7 1624074 1666117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 16250664 17365508 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 16274410 16343445 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1628673 2043019 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16307542 16427472 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16315288 16315368 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 16315368 16368639 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 16315491 16315591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 163387 211149 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 16368639 16369548 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 163742 166359 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 16386274 16386374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 16412647 16458652 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16456757 16996477 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 16458999 16519387 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16467633 16536730 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16467633 16536730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 16467633 16536730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16500000 20900000 Loss Basal cell lymphoma Array CGH 16317097 chr7 16500000 20900000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 chr7 16513158 16513222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1651463 1662808 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16533030 16587718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 16533030 16587718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16566568 16597345 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16567977 16568077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 16573567 16587639 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16589932 16592907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16602106 16602486 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16604681 16617848 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16605932 16651937 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16605932 16651937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 16605932 16651937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16607426 16607526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 16633883 16634080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 166359 233040 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 16652283 16712672 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 16652284 16712662 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16652284 16712662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 16652284 16712662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16670000 19210000 Amplification Sezary syndrome Array-based CGH 18413736 chr7 16672269 16694853 Gain and loss Pancreatic cancer SNP array 17952125 chr7 16684996 16685089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 16697717 16710926 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 16697717 16717755 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 16759876 16790684 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16759876 16790684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 16759876 16790684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16776548 17113548 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr7 16783293 17304719 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 16795391 16795771 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16795391 16795771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16797959 16811133 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 16797959 16811133 Gain or loss Breast cancer - 20668451 chr7 16797959 16811133 Gain or loss Cancer - 20668451 chr7 16797959 16811133 Gain or loss Lung cancer - 20668451 chr7 16797959 16811133 Gain or loss Ovarian cancer - 20668451 chr7 16797959 16811133 Gain or loss Pancreas cancer - 20668451 chr7 16797959 16811133 Gain or loss Prostate cancer - 20668451 chr7 16797963 16811133 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16797963 16811136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 16797963 16811136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16805611 17800441 Gain Autism Exome sequencing and CGH 22495309 chr7 16816511 16974692 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 16822989 18504465 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr7 168315 158628932 Copy number Normal - 22034057 chr7 16855925 16856025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 16865554 16888138 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16865554 16888138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 16865554 16888138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16870416 16872457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16894770 16895034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16902813 16903151 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 169131401 158821424 Deletion Glioma mate-paired sequence 20126413 chr7 16915279 16915377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 69218189 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr7 16944374 16944706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 16963004 16995524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 16974051 17025700 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 16986039 17563401 LOH Normal High-resolution SNP genotyping 21211785 chr7 1698972 1700487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1698972 1700487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 17000000 121500000 Loss Normal Human genome CGH 49k ARRAY PLATFORM 22144094 chr7 17018516 17018792 Gain and loss Pancreatic cancer SNP array 17952125 chr7 17029773 17029873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17039238 17039627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 17042942 17265472 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 17060348 17062853 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 17078208 17078303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17094488 17094715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17094606 17094717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17099343 17099545 Gain Normal 244K array 17666407 chr7 17111486 17158632 Gain and loss Pancreatic cancer SNP array 17952125 chr7 17128705 17129005 Loss Osteosarcoma References 21215367 chr7 17165997 17166440 Gain and loss Pancreatic cancer SNP array 17952125 chr7 17186065 17186190 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1 7200000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 1 7200000 Gain Breast cancer - 16397240 chr7 1 7200000 Gain Follicular lymphoma aCGH 20505157 chr7 1 7200000 Microdeletion Raine Syndrome - 17924334 chr7 17201925 17473214 Duplication Depressive disorder Perlegen 600K platform 21152026 chr7 17211801 17212077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 17241323 17241423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17269573 17269673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1 7300000 Copy number Glioma Real-Time PCR 18556773 chr7 1 7300000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr7 1 7300000 Gain Prostate cancer Array CGH 16573809 chr7 1 7300000 Gain Sudden cardiac death CGH 19188705 chr7 17304832 17349400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 17304832 17352294 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 17304832 17352294 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 17304832 17352299 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 17314704 17314794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1734268 2734268 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 17357494 17357594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17379350 17379475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 17415800 17415880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17416075 17416145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1745086 1782948 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 17453519 17453619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17474819 18413903 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 17481371 17481471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17495345 17530121 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 17526880 17583814 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 17526880 17583814 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 17545091 17546091 Loss Osteosarcoma References 21215367 chr7 17553579 17554579 Loss Osteosarcoma References 21215367 chr7 17553972 17554972 Gain Osteosarcoma References 21215367 chr7 17561816 17562116 Gain Osteosarcoma References 21215367 chr7 17564419 17564519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17588089 17588189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17595461 17595561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17605698 17753359 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1764942 1765006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1767001 1817500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 17715498 17716498 Gain Osteosarcoma References 21215367 chr7 1 77400000 Deletion Medulloblastoma SNP arrays 21979893 chr7 17779969 18413903 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 17798181 17903721 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 17798181 17946642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 17798181 17946642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1780300 2316393 LOH Normal High-resolution SNP genotyping 21211785 chr7 17811012 17811944 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 1782142 1782222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17839689 17840642 Gain and loss Pancreatic cancer SNP array 17952125 chr7 17854617 17854712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17868378 18192733 Gain Autism qPCR, Illumina1M 20531469 chr7 17875832 17875907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17931503 17931591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17940850 17940950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17947662 17947762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17961529 17961644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 17994566 17994666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18030519 18701018 LOH Normal High-resolution SNP genotyping 21211785 chr7 18032974 18033927 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 18032974 18033927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 18106688 18110916 Gain Normal 244K array 17666407 chr7 18124522 18132305 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 18133368 18133457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 18133732 18133822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18172304 18354493 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 1817501 1823500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 18219146 18219246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1821953 2239109 Gain or loss Breast cancer - 20668451 chr7 1821953 2239109 Gain or loss Cancer - 20668451 chr7 1821953 2239109 Gain or loss Lung cancer - 20668451 chr7 1821953 2239109 Gain or loss Ovarian cancer - 20668451 chr7 1821953 2239109 Gain or loss Pancreas cancer - 20668451 chr7 1821953 2239109 Gain or loss Prostate cancer - 20668451 chr7 1821956 2239404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1821956 2239404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1822496 1830007 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 1823501 1845000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 18303487 18303584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 183056 243383 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 18308609 18810224 Gain and loss Pancreatic cancer SNP array 17952125 chr7 18322471 18322595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18322588 18322765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18347801 18347901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18355620 18389159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 18437609 18533379 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 1844748 1856093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1844748 1856093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1845001 1881500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 18501894 19003518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 18501894 19003518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1851462 1856093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 1851462 1856093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 185373 225446 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 1855427 2272583 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 18559723 18730369 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 18559723 18929213 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 18584321 19003509 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 18620905 18621142 Gain and loss Pancreatic cancer SNP array 17952125 chr7 18624881 18624913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18672652 18672652 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr7 18674349 19794901 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 187001 253000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 18727143 18727564 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr7 18792607 18792929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 18792616 18792960 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 18797989 18810290 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 18814129 18814427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 18814190 18814427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 1881501 1888000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 188219 26561105 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr7 188219 37404452 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr7 18832943 19952661 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 18833053 18833131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1888001 1896500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 18918611 19293955 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 18928502 18930535 Gain and loss Pancreatic cancer SNP array 17952125 chr7 18933608 18933682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18946646 18946746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18955046 18955910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 18955269 18955369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18957725 18958225 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1896501 1963000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 18993385 18993464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 18995349 18995449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 19014242 19014604 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr7 19022016 19580408 LOH Normal High-resolution SNP genotyping 21211785 chr7 19035233 19622820 LOH Normal High-resolution SNP genotyping 21211785 chr7 1 904065 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 19049942 19986975 LOH Normal High-resolution SNP genotyping 21211785 chr7 19059493 19059580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 19121615 19123820 Gain or loss Breast cancer - 20668451 chr7 19121615 19123820 Gain or loss Cancer - 20668451 chr7 19121615 19123820 Gain or loss Lung cancer - 20668451 chr7 19121615 19123820 Gain or loss Ovarian cancer - 20668451 chr7 19121615 19123820 Gain or loss Pancreas cancer - 20668451 chr7 19121615 19123820 Gain or loss Prostate cancer - 20668451 chr7 19121633 19123820 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 19121633 19123820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 19121633 19123820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 19144600 19145257 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 19144600 19153324 Copy number Normal Birdsuite, version 1.5.2 22087296 chr7 19145257 19147225 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 19147225 19153324 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 19150930 19151569 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 19150930 19151569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 19150930 19151569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 19186984 19188683 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 19193867 19193967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 19200000 29400000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr7 19209283 19394202 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 19283479 19293886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 19339434 19339534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 1937152 1937325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 19378681 19992372 LOH Normal High-resolution SNP genotyping 21211785 chr7 19379124 19511836 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 19383410 19992372 LOH Normal High-resolution SNP genotyping 21211785 chr7 19389892 19992372 LOH Normal High-resolution SNP genotyping 21211785 chr7 1941180 2526908 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 19412745 19952661 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 19429478 19434510 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 19430162 19986975 LOH Normal High-resolution SNP genotyping 21211785 chr7 1944247 1944462 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 19500000 24900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 19500000 24900000 Copy number Normal - 21701786 chr7 19500000 24900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 19500000 24900000 Duplication Heart disease Illumina 611Quad Beadchip platform 21282601 chr7 19500000 31800000 Amplification Biliary cancer Array CGH 19435499 chr7 19500000 31800000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr7 19500000 57400000 Gain Medulloblastoma SNP arrays 21979893 chr7 19508325 19521900 Gain and loss Pancreatic cancer SNP array 17952125 chr7 19516045 19516145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 19532038 19538631 Gain and loss Pancreatic cancer SNP array 17952125 chr7 19602749 19619636 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 19619636 19978999 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 1963001 1993000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 19643203 19643303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 19644060 19670976 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 19701610 19715185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 19701610 19715185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 19725458 19779746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 19725458 19779746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 19762744 19762824 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 19795180 19795280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 19815628 19816110 Gain and loss Pancreatic cancer SNP array 17952125 chr7 1993001 2025500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 19953491 20030253 Gain and loss Pancreatic cancer SNP array 17952125 chr7 20008913 20009181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20021679 20021779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 20025314 20058643 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 2002937 2003026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 20042225 20042325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 20043573 20098748 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 20048856 20095872 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 20048856 20096950 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 20073955 20080102 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr7 20140803 20223538 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 20140813 20223552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 20140813 20223552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20143986 20223659 Gain and loss Pancreatic cancer SNP array 17952125 chr7 20172218 20527521 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 20172218 21020013 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 20190194 20190264 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2025501 2049500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 20273676 54565618 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr7 20337250 20421879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 20337250 20421879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20360347 20360406 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 20370886 20370963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 20383479 20383549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20460285 20568487 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2047169 2055074 Gain and loss Pancreatic cancer SNP array 17952125 chr7 20488596 20488675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2049501 2159000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 20519316 20535782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 20519571 20519697 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2055098 2064036 Gain and loss Pancreatic cancer SNP array 17952125 chr7 205586 205683 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 2056402 2056402 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 20567604 20567663 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 20588220 20589354 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 20588220 20589354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20595138 20596233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20595141 20599745 Gain and loss Pancreatic cancer SNP array 17952125 chr7 20600858 20634357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 20621355 20763157 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 20621355 20763157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20631875 20631931 Gain and loss Pancreatic cancer SNP array 17952125 chr7 20632221 20632288 Gain and loss Pancreatic cancer SNP array 17952125 chr7 20639910 20639944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 20640185 20640574 Gain and loss Pancreatic cancer SNP array 17952125 chr7 20656570 20656805 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2067465 2067860 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2067882 2127340 Gain and loss Pancreatic cancer SNP array 17952125 chr7 20682780 27017308 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 20700381 20700456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 20708156 31938732 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 20708193 20711088 Deletion Obesity Illumina Infinium II HumanHap550K BeadChip 20950786 chr7 20712856 20712982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20715310 20720102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 20737062 21363659 LOH Normal High-resolution SNP genotyping 21211785 chr7 20788428 20793030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 20788428 20793030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20825160 20825216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20825506 20825573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20833444 20833910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 20849855 20850109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2088939 2089024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 20900000 25500000 Copy number Schizophrenia Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 20900000 25500000 Deletion Lung cancer Relied on a multipoint score function 16773561 chr7 20900000 28800000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr7 20902045 20902077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 20934866 21837138 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 2100000 4500000 Copy number Spondylocostal dysostosis high-resolution SNP arrays 21085971 chr7 2100000 4500000 Deletion Heart disease Illumina 612Quad Beadchip platform 21282601 chr7 2100000 4500000 Deletion Mental retardation FISH 17901693 chr7 2100000 4500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 2100000 59100000 Deletion Medulloblastoma SNP arrays 21979893 chr7 21028396 21028671 Gain and loss Pancreatic cancer SNP array 17952125 chr7 21033074 21034287 Gain and loss Pancreatic cancer SNP array 17952125 chr7 21094451 21094550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21152774 21187674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 21189059 21872356 LOH Normal High-resolution SNP genotyping 21211785 chr7 21194221 21194354 Gain and loss Pancreatic cancer SNP array 17952125 chr7 21194221 21194431 Gain and loss Pancreatic cancer SNP array 17952125 chr7 21204546 21204626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21210638 21224325 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 21216396 21216468 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 21219079 21734423 LOH Normal High-resolution SNP genotyping 21211785 chr7 21221681 21221956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 21221684 21221974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 21224325 23272545 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 21226357 21227572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 21240929 21324576 Gain and loss Pancreatic cancer SNP array 17952125 chr7 21261024 21261058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21356073 21714426 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2135701 2135791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21387506 21387663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 21407063 21407756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2140841 2140924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21434214 21520674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 21434214 21520674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2145738 2145778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21477201 21477289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 21501709 21546443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 21549357 21907982 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 21549357 21907982 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 21549358 21907982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 21549358 21907982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 21550508 21573699 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 21554232 21554352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 21583637 21589912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 2158504 2158570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2159001 2203000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 2162287 2162471 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 21641192 21641292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21665721 22043527 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 21668516 21701254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 2167742 2193619 Gain and loss Pancreatic cancer SNP array 17952125 chr7 21682409 21682509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21693589 21693689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21713758 21758757 Gain and loss Pancreatic cancer SNP array 17952125 chr7 21715646 21715746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2175870 2176097 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 21780381 21780641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 2181877 2181977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 21907041 21952067 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 21907043 21952227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 21907043 21952227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 21931162 22006593 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2203001 2290500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 22049645 22049733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2207354 2207418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 22111453 22111542 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2211211 2211311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 22124432 22363058 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 22124432 22363058 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 22124434 22363288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 22124434 22363288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22169257 22169364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 22197340 22197440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 22200000 77400000 Gain Follicular lymphoma aCGH 20505157 chr7 22200000 77400000 Gain Glioblastoma multiforme conventional CGH 21080181 chr7 22232309 22313038 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22266757 22266857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 22283063 22304367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 22304738 22304827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22323471 22324858 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22359513 22359618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 22397121 22397221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 22397675 22431503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 22401326 22403285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 22401347 22403248 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 2240454 2248359 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2240454 2248359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22404691 22404791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 22425588 22506642 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 22425588 22506642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22439384 22439562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 22441144 22441239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 22444562 22506426 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 22444907 22445007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2245437 2247455 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2248383 2257306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2248383 2257306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2250639 2260725 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22516494 22640794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22517995 22518082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22528824 22694150 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 22538256 22540475 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22540060 22544856 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22560106 22560328 Loss Normal 244K array 17666407 chr7 22560106 22560953 Loss Normal 244K array 17666407 chr7 22560391 22560457 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22561663 22561728 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22567601 22694100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 22569457 22569586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 22586505 22586852 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22586844 23272545 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 2261165 2320625 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 2261167 2320625 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2261167 2320625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22625497 22635661 Gain and loss Pancreatic cancer SNP array 17952125 chr7 226336983 226353536 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 22694752 22695249 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22731541 22733760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22732028 22738146 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 22732028 22738146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2274908 2440740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2274908 2440740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22753676 22753742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22753819 22754948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22754948 22755013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22756500 22826988 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22779790 22780137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 22779790 22780137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22791259 22836705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 22816536 22828989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 22816536 22828989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22862757 22862830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22870018 22887494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2288013 2288877 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2290501 2389500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 22918642 22988276 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22931279 22950432 Gain and loss Pancreatic cancer SNP array 17952125 chr7 22947402 23020295 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 22949785 23020273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 22949785 23020273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 22982133 23942403 LOH Normal High-resolution SNP genotyping 21211785 chr7 22983694 22983794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 22994726 23013864 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23041432 23041532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 23059626 23087963 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23062492 23062543 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 23078120 23109036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 23107172 23110722 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 23111877 23181563 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 23111927 23181561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23111927 23181561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23112200 23124609 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23113148 23113248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 23123069 23283235 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23177285 23201028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23188010 23207149 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 23188011 23207149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23188011 23207149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23200000 77400000 Amplification Biliary cancer Array CGH 19435499 chr7 23200000 77400000 Microdeletion Williams-beuren syndrome aCGH 22470819 chr7 23201515 23201615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 23201784 23537259 Gain Bladder cancer array-CGH 21909424 chr7 23247899 23247931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 23252841 23281248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23252841 23281248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23263516 23263579 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2327342 54294538 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr7 23286315 23314728 Amplification Prostate cancer aCGH 22341455 chr7 23303439 23304269 Gain and loss Pancreatic cancer SNP array 17952125 chr7 233040 240268 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 23304653 23304752 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23304655 23304752 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23305464 23315705 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 23305465 23315705 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23305465 23315705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2330738 2342050 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2331069 2331148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 23313979 23323942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 23316352 23476520 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 23316354 23476520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23316354 23476520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23317643 23344839 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23343744 23343955 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23349827 23509994 Amplification Prostate cancer aCGH 22341455 chr7 23397927 23399214 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23402013 23402062 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 23402590 23402660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23405374 23422111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 23410271 23457566 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23438569 23439759 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 23451021 23451395 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23493062 23515508 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23493296 23653562 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 23497936 23498037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2350756 2368569 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23510925 23538181 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 23510928 23538181 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23510928 23538181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23514622 23514722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 23523119 23645366 Gain and loss Pancreatic cancer SNP array 17952125 chr7 235356 235602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 23537029 23537240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23603523 23650852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23603523 23650852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2361000 2386901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2361000 2386901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2363747 2363834 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23643291 23644794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23643291 23644794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23675421 23675498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23686273 23708794 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 23686274 23708794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23686274 23708794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23707889 23707993 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23715756 32063427 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 chr7 23716362 23910890 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 23716404 23838843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 23716404 23838843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23716795 31550647 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 2371873 2427597 Gain and loss Pancreatic cancer SNP array 17952125 chr7 23727455 23727926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23775839 23821170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 23817288 23817804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 23883602 24411771 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 2389501 2391500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 23900394 23934972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 23901174 23901278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2391501 2455500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 239200 46540927 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr7 23945568 23945653 Gain and loss Pancreatic cancer SNP array 17952125 chr7 24004686 24006595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 24004755 24006584 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 24004759 24006304 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 24004759 24006304 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 240268 250145 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 24060774 24060844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24074470 24074573 Gain and loss Pancreatic cancer SNP array 17952125 chr7 24097047 24104717 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2409748 2440742 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 24119195 24120157 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 24120000 26140000 Gain Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 chr7 24138853 24138938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 24224613 24224775 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 24262402 24278742 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 24267598 24267698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24267755 24267858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 24280708 24280904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24290332 24298002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 24290332 24298002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 24326178 24330035 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 24350191 24350297 Gain and loss Pancreatic cancer SNP array 17952125 chr7 24356194 24356284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24381474 24381574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24386241 24500733 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2439831 2470473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 2443924 2454008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 24447148 24549933 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 2444849 2477675 Gain and loss Pancreatic cancer SNP array 17952125 chr7 244624 256725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 24478045 24478145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24500595 26636424 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 24511215 24570603 Gain and loss Pancreatic cancer SNP array 17952125 chr7 24534534 24534634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24543476 24543582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2455501 2458500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 24579526 24694022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 24579526 24694022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 245847 254864 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 245847 254864 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 2458501 2474000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 24609406 24793000 Gain and loss Pancreatic cancer SNP array 17952125 chr7 24617112 24646102 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 246218 255635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 24644451 24644773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 24649874 24649974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24704499 24764164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 24704499 24764164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 247284 254864 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 247284 254864 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 2474001 2485500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 2477264 2477339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24800697 24844834 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 24802688 24986285 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 24802688 24986285 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr7 24802691 24986285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 24802691 24986285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 24809720 24809794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24836444 24867370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 24850368 24850468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2485501 2499000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 24885046 24885146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24900000 28000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 24900000 28000000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 24900000 28000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 24900000 28000000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr7 24900000 28000000 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 chr7 24921822 24921871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24922773 25040936 Duplication Depressive disorder Perlegen 600K platform 21152026 chr7 2492404 2528304 Gain and loss Pancreatic cancer SNP array 17952125 chr7 24931517 24938195 Gain and loss Pancreatic cancer SNP array 17952125 chr7 24947556 24993057 Gain and loss Pancreatic cancer SNP array 17952125 chr7 24947711 24947811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 24974109 24974201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2499001 2552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 2500110 2500211 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 25009001 25012800 Deletion Glioma mate-paired sequence 20126413 chr7 25011127 25011455 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 250145 253709 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 250149 253697 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 25021901 25028400 Deletion Glioma mate-paired sequence 20126413 chr7 25023969 25026396 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 25023970 25026378 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 25025026 25025825 Gain and loss Pancreatic cancer SNP array 17952125 chr7 25037438 25041345 Gain and loss Pancreatic cancer SNP array 17952125 chr7 25077515 25077740 Gain and loss Pancreatic cancer SNP array 17952125 chr7 25077516 25077741 Gain and loss Pancreatic cancer SNP array 17952125 chr7 25124802 25131480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 25124802 25131480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25140841 25186498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 25140841 25186498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25164993 25165093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25184107 25184192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2518689 2535334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2518689 2535334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25189691 25189723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25218003 25219110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25230714 25234630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 25230714 25234630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25234363 25234653 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 2526004 2535336 Gain or loss Breast cancer - 20668451 chr7 2526004 2535336 Gain or loss Cancer - 20668451 chr7 2526004 2535336 Gain or loss Lung cancer - 20668451 chr7 2526004 2535336 Gain or loss Ovarian cancer - 20668451 chr7 2526004 2535336 Gain or loss Pancreas cancer - 20668451 chr7 2526004 2535336 Gain or loss Prostate cancer - 20668451 chr7 25261467 25261525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25264188 25268104 Amplification Prostate cancer aCGH 22341455 chr7 25270800 25271025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 253001 611500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 25305709 25308651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 25313488 25313588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25327003 25329084 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 25332902 25333002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 253709 326228 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 2540989 2657200 Gain and loss Pancreatic cancer SNP array 17952125 chr7 25426199 25426237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25432533 25432656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25438465 25438553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2544041 2561672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2544041 2561672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25444521 25444828 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 25447668 25447806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25462116 25462210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25463245 25477861 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 25500000 28000000 Amplification Pancreatic ductal adenocarcinoma Affymetrix 100K SNP arrays 17952125 chr7 25500000 28000000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 chr7 25500000 28000000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 chr7 25502598 25502819 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2552501 2629000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 25555661 25555735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2557032 2557119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25576813 25576903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25607877 25608561 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 25622365 25622465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2565158 2620893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2565158 2620893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2567219 2567326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 25728296 27195245 Amplification Breast cancer Illumina high-density SNP arrays 18852474 chr7 25762765 25762863 Gain and loss Pancreatic cancer SNP array 17952125 chr7 25762765 25762863 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr7 25762779 25762846 Gain and loss Pancreatic cancer SNP array 17952125 chr7 25762779 25762846 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr7 2579950 2607347 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 25859277 26698649 LOH Normal High-resolution SNP genotyping 21211785 chr7 25891886 25928736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 25899309 25922824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 25906531 25925433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 25908481 25919832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 2595091 2595144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25956064 25956131 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 25956064 25956131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 25965100 25999145 Gain and loss Pancreatic cancer SNP array 17952125 chr7 25965946 25966046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25985023 25985123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25986901 25987001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 25989538 25989605 Amplification Prostate cancer aCGH 22341455 chr7 25995296 26019792 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 26003174 26013606 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26014339 26026216 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26074977 26075077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 26091781 26112696 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 26094498 26112696 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 26096259 26112696 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 26099195 26112696 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 26103527 26112020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 26103666 26112153 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 26103808 26111520 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 26103808 26111520 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 26103808 26112696 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 26103808 26112696 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 26103848 26112246 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 26104755 26187187 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26108917 26111938 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 26108917 26111938 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 26158384 26192432 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 26158385 26192430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 26158385 26192430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 26189586 26189702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 26192199 26192248 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 26194452 26194516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 26196080 26206938 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 26196081 26206942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 26196081 26206942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 26207623 26219501 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 26207623 26219501 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 26207624 26219501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 26207624 26219501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 26211602 26216365 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26214157 26214251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2629001 2639000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 26292510 26292559 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 26298039 26380474 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 26298040 26380474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 26298040 26380474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2633455 2633799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 26345980 26351647 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26353337 26369032 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 2638129 2670960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2638129 2670960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2638129 2670962 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 2639001 2656000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 26404876 26505119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 26479930 26677581 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26479930 26677581 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr7 26484702 26531131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 26498398 28299755 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 26541957 26544762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2656001 2720000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 26608283 26608380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 26617899 26617987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 26617929 26618029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 26624347 27251672 LOH Normal High-resolution SNP genotyping 21211785 chr7 26640672 27455008 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 26644014 26653414 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 26644015 26653414 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 26644015 26653414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 26652574 27302899 LOH Normal High-resolution SNP genotyping 21211785 chr7 26652574 27303303 LOH Normal High-resolution SNP genotyping 21211785 chr7 26661184 28741939 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr7 26673212 26870866 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 26673215 26870866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 26673215 26870866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2667675 2752274 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 26711559 26711659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 26734969 26735771 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26751405 26952340 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 26752278 26759758 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 26795939 26796316 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26819957 26852487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 26825824 26838478 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 26836597 26837768 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26838454 28615398 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr7 26853074 26853174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2685689 2721587 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2685689 2721587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 26861051 26861487 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26905856 26908834 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26913218 26915634 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26919049 26939879 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26925802 26970581 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 26928207 26935743 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26928245 26929056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 26941250 26943639 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26944329 26947401 Amplification or deletion Cancer Array CGH 17440070 chr7 26954236 26956527 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26958356 26960608 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26963405 26967107 Amplification or deletion Cancer Array CGH 17440070 chr7 26967000 27057000 Gain Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 chr7 26967530 26969536 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26975298 26982509 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26978770 26981968 Amplification or deletion Cancer Array CGH 17440070 chr7 26980987 26981087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 26983451 26987163 Gain and loss Pancreatic cancer SNP array 17952125 chr7 26989221 26989601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 26991842 27026070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 26994369 26998070 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27009739 27012936 Gain and loss Pancreatic cancer SNP array 17952125 chr7 270250 279939 Copy number Autism exome sequencing 22495311 chr7 27029882 27031053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27054300 27054795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27055661 27059432 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27072710 27072810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 27082212 27082570 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27099138 27102150 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27099141 27102150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27099141 27102150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27100501 27259500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 27106497 27108919 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27106499 27108919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27106499 27108919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27112333 27133164 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27112334 27158458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27112334 27158458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27121492 27129028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27121492 27129028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27134650 27136924 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27134777 27136877 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27134777 27136877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27141816 27142329 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27147520 27149812 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27147521 27149812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27147521 27149812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27150000 27180000 Gain Acute lymphoblastic leukemia - 21339820 chr7 27151640 27153893 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27151641 27153893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27151641 27153893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27159860 27164080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27159860 27164080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27159862 27162821 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27168581 27171674 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27168581 27171674 Copy number Lung cancer - 20668451 chr7 27168581 27171674 Gain or loss Breast cancer - 20668451 chr7 27168581 27171674 Gain or loss Cancer - 20668451 chr7 27168581 27171674 Gain or loss Lung cancer - 20668451 chr7 27168581 27171674 Gain or loss Ovarian cancer - 20668451 chr7 27168581 27171674 Gain or loss Pancreas cancer - 20668451 chr7 27168581 27171674 Gain or loss Prostate cancer - 20668451 chr7 27168583 27175794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27168583 27175794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27175624 27175708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27176734 27186401 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27176734 27186401 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 27176736 27186405 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27176736 27186405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27187300 27191367 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27187300 27191367 Gain or loss Breast cancer - 20668451 chr7 27187300 27191367 Gain or loss Cancer - 20668451 chr7 27187300 27191367 Gain or loss Lung cancer - 20668451 chr7 27187300 27191367 Gain or loss Ovarian cancer - 20668451 chr7 27187300 27191367 Gain or loss Pancreas cancer - 20668451 chr7 27187300 27191367 Gain or loss Prostate cancer - 20668451 chr7 27187301 27191360 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27187301 27191360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2719024 2856740 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27191551 27195437 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 2720001 2876000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 27203023 27206250 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27203023 27206250 Gain or loss Breast cancer - 20668451 chr7 27203023 27206250 Gain or loss Cancer - 20668451 chr7 27203023 27206250 Gain or loss Lung cancer - 20668451 chr7 27203023 27206250 Gain or loss Ovarian cancer - 20668451 chr7 27203023 27206250 Gain or loss Pancreas cancer - 20668451 chr7 27203023 27206250 Gain or loss Prostate cancer - 20668451 chr7 27203023 27206250 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 27203024 27206250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27203024 27206250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2721151 3758564 Duplication Nasopharyngeal cancer CNV partition 20548289 chr7 27231920 27232007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 27242504 27242604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 27247624 27247698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 27248688 27252717 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27248689 27252717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27248689 27252717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27271022 27271714 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27274581 27275828 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27275497 27275855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27290348 30102660 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 27304935 27305622 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27318650 27882743 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 27334732 27335677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27338303 27475842 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2734271 2850485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2734271 2850485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2738957 4133185 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 2738957 4452464 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 2739316 3758564 Duplication Nasopharyngeal cancer PennCNV 20548289 chr7 2739316 3758564 Duplication Nasopharyngeal cancer QuantiSNP 20548289 chr7 27406607 27406707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2741513 2741567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2744052 4109252 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 27464307 27464993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27467860 27469113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27480861 27481135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 27481567 27481667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 27531585 27669127 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 27531588 27669127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27531588 27669127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27534887 27535196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27553048 27642116 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27566856 27746109 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 27612463 27962497 Amplification or deletion Cancer Array CGH 17440070 chr7 27612744 27657745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 27643441 27993602 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27648377 27648477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 27746239 27835911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27746239 27835911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27746262 27835911 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 27746262 27835911 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27746262 27835911 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 27749901 27750248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 27836717 28186962 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 27836717 28186962 Gain or loss Breast cancer - 20668451 chr7 27836717 28186962 Gain or loss Cancer - 20668451 chr7 27836717 28186962 Gain or loss Lung cancer - 20668451 chr7 27836717 28186962 Gain or loss Ovarian cancer - 20668451 chr7 27836717 28186962 Gain or loss Pancreas cancer - 20668451 chr7 27836717 28186962 Gain or loss Prostate cancer - 20668451 chr7 27836726 28186962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 27836726 28186962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 27888872 27888926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 27915227 27915438 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 27930972 27931078 Gain and loss Pancreatic cancer SNP array 17952125 chr7 27933058 27933158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2795297 2795611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 27954976 27955035 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 27967742 27967927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28000000 28800000 Copy number Neuroticism SNP array 17667963 chr7 28000000 31800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 2800000 4500000 Gain Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 chr7 2800000 7300000 Gain Prostate cancer Array CGH 16573809 chr7 28020620 28020720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28041496 28080119 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 28092069 28092570 Gain and loss Pancreatic cancer SNP array 17952125 chr7 28093210 28138065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 2811969 2812214 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2811969 2812307 Gain and loss Pancreatic cancer SNP array 17952125 chr7 28124257 28124363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 28130899 28130969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28138408 28138508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28180826 28181189 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 28180830 28181193 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 28225384 28632850 Gain and loss Pancreatic cancer SNP array 17952125 chr7 28229695 28229795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28270120 28270220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28285354 28285855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 28285354 28285855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 28285366 28285843 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 28305464 28832036 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 28305465 28832036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 28305465 28832036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 28327980 28328080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28333021 28333121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28412037 28452330 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 2841781 2842182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 28443038 28583155 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 28470710 28470742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28483741 28513177 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 2850003 2850603 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr7 28538801 28543600 Deletion Glioma mate-paired sequence 20126413 chr7 28540564 28541742 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 28540762 28541611 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 28540865 28541707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 28563168 28563384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 28628853 28643307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 28640528 28640617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 2864413 2897827 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 2865575 2865723 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 28718572 28718672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28731802 28731859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28732726 29044884 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 28752495 29051969 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 2876001 2945000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 28768467 28770902 Gain and loss Pancreatic cancer SNP array 17952125 chr7 28783509 28786162 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 28800000 35000000 Gain and amplification Multiple myeloma Array CGH 16616336 chr7 28800000 43300000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr7 288051 304059 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 288052 304072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 288052 304072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 28808089 28959321 Gain and loss Pancreatic cancer SNP array 17952125 chr7 288325 304063 Gain and loss Pancreatic cancer SNP array 17952125 chr7 2884201 3289000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 28868575 28868675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28912954 28913054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 28928705 28960965 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 28961501 28964000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 28961752 28964187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 28974209 29007625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 28982601 29309947 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 29001771 29201417 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 29001772 29201417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 29001772 29201417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29007566 29327182 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29044884 43035238 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 29084525 29129632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 290869 290964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29094315 29094455 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 2912295 3050105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 2912295 3050105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29127063 29127063 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr7 29128123 29128203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29175877 29503232 Gain Autism qPCR 20531469 chr7 29200645 29520469 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 29200646 29520469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 29200646 29520469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29258701 29259036 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 29269846 29270024 Gain Normal 244K array 17666407 chr7 292856 292952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29289890 57730637 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 29376667 29380151 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29381417 29926522 LOH Normal High-resolution SNP genotyping 21211785 chr7 29401454 29401554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29417160 29417260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29431177 29708612 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 29443443 29443752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 29448628 29488026 Loss Normal 244K array 17666407 chr7 29450497 29451171 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29454230 29454583 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29480584 29738663 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 29508165 29508251 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29531867 29531920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 29531891 29531944 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 29557693 29558282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 29557693 29558282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29569951 29573436 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 29569952 29573436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 29569952 29573436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29603751 30677243 LOH Normal High-resolution SNP genotyping 21211785 chr7 29635150 29754584 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 29637243 29747478 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 29640265 29654043 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 29647515 29647868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29654690 29747478 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 29654977 29656668 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 29656015 29656826 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 29657608 29718238 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 29683076 29683112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29686874 29686970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29688686 29719031 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29693318 29725052 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 29701450 29701536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29725384 29725488 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29732968 29802617 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29812627 29923207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 29812627 29923207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29826124 29839506 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29840865 29912316 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 29841297 29943336 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29883361 29883455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29900296 29900343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29918669 29918773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29926252 29995902 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 29926273 29995902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 29926273 29995902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 29947849 29975616 Gain and loss Pancreatic cancer SNP array 17952125 chr7 29948305 31550647 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 29958220 29958320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 29999298 29999382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30017677 30017738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 30019346 30032822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30019346 30032822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30034566 30136621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30034566 30136621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30034812 30136621 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 3005254 3005566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30079366 30094322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 30084620 30702507 LOH Normal High-resolution SNP genotyping 21211785 chr7 30097163 30180547 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30102660 30430308 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 30141076 30168906 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 30141077 30168906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30141077 30168906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30177344 30177444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30182906 30185644 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30189208 30189308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3020000 3120000 Loss Acute lymphoblastic leukemia - 21339820 chr7 30237387 30291548 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30253330 30253430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30271189 30271289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30290447 30373833 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 30290447 30373833 Gain or loss Breast cancer - 20668451 chr7 30290447 30373833 Gain or loss Cancer - 20668451 chr7 30290447 30373833 Gain or loss Lung cancer - 20668451 chr7 30290447 30373833 Gain or loss Ovarian cancer - 20668451 chr7 30290447 30373833 Gain or loss Pancreas cancer - 20668451 chr7 30290447 30373833 Gain or loss Prostate cancer - 20668451 chr7 30290448 30373832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30290448 30373832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30295935 30296031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30309479 30317692 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30309721 30337833 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 30372844 30377473 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30407421 30446884 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30430308 33133404 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 30430672 30484833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30430672 30484833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30430674 30484790 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 30445374 30451439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 3046420 4279470 Deletion Cancer Affymetrix 250K Sty array 20164920 chr7 30465440 30512959 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30502109 30502436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 30502761 30510977 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 30502761 30510977 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 30502762 30510977 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 30502764 30510977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30502764 30510977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30565007 30568707 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30566129 30570758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30584280 30705241 Gain and loss Pancreatic cancer SNP array 17952125 chr7 3059866 3333470 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 30600706 30640168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30600706 30640168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30634170 30634270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30654001 30762000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 30659387 30706244 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 30659387 30706244 Gain or loss Breast cancer - 20668451 chr7 30659387 30706244 Gain or loss Cancer - 20668451 chr7 30659387 30706244 Gain or loss Lung cancer - 20668451 chr7 30659387 30706244 Gain or loss Ovarian cancer - 20668451 chr7 30659387 30706244 Gain or loss Pancreas cancer - 20668451 chr7 30659387 30706244 Gain or loss Prostate cancer - 20668451 chr7 30659388 30706244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30702026 30743040 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr7 30704125 30763743 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 30724708 30738371 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30758276 30763747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30758276 30763747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30762001 30849000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 30770266 30770366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30776876 30796473 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30777558 30898526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30777558 30898526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 30797427 30936325 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 30831662 30845233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 30849001 30899000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 30863589 30863887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 30865382 30919551 Gain and loss Pancreatic cancer SNP array 17952125 chr7 30874387 30907848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 30899001 30932500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 3090719 3090913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30917802 30917857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30917992 30931656 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 30917992 30931656 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 30917992 30931656 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 30917993 30931656 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30917993 30931656 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 3092123 3122339 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 30927969 30928051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30931500 30931600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3093242 3093342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30932501 31117500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 30934658 30970056 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 30969310 30969430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 30970056 31714291 LOH Normal High-resolution SNP genotyping 21211785 chr7 30970160 30985668 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 30970160 30985668 Gain or loss Breast cancer - 20668451 chr7 30970160 30985668 Gain or loss Cancer - 20668451 chr7 30970160 30985668 Gain or loss Lung cancer - 20668451 chr7 30970160 30985668 Gain or loss Ovarian cancer - 20668451 chr7 30970160 30985668 Gain or loss Pancreas cancer - 20668451 chr7 30970160 30985668 Gain or loss Prostate cancer - 20668451 chr7 30970161 30990114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 30970161 30990114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31037101 31037429 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 31058650 31113403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 31058650 31113403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31058666 31112836 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 31062538 31062638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31076136 31076236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31086417 31100431 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 31106270 31106328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31135895 31135963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3114460 4079281 Gain and loss Pancreatic cancer SNP array 17952125 chr7 31150322 31153778 Gain and loss Pancreatic cancer SNP array 17952125 chr7 31157234 31164915 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 31210883 31236560 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 31280401 31286600 Deletion Glioma mate-paired sequence 20126413 chr7 31282053 31285478 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 31323137 31323263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31330218 31466543 Gain and loss Pancreatic cancer SNP array 17952125 chr7 31343604 31347063 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 31343607 31347063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 31343607 31347063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31344254 31344346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31407694 31407794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31435681 31435740 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 3146660 3180813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 3146660 3180813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31500000 31517800 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr7 31500087 31521308 Gain and loss Pancreatic cancer SNP array 17952125 chr7 31520229 31662641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 31520229 31662641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31523502 31662641 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 31530226 31546165 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 31531242 32194503 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 31554193 31554293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31556709 31558572 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 31556709 31558572 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 31556764 31558482 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 31565872 32111587 Gain and loss Pancreatic cancer SNP array 17952125 chr7 31583983 31702682 Duplication Autism Array CGH 22102821 chr7 31600024 31600124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31616922 31622223 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 31622630 35257802 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 31625001 32611700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 31643125 31643225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31648115 31749521 Both Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 31668511 31676022 Gain Normal 244K array 17666407 chr7 31679446 31682502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 31693354 31714593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 31693354 31714593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31693371 31714594 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 31695505 32194503 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 31697222 33870848 Amplification Normal Arbitrated Peel-off 21527027 chr7 31697222 33870848 Amplification Normal Standard peel-off 21527027 chr7 31757318 32305466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 31757318 32305466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31758490 31871079 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 31759156 32305466 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 31789124 31789214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 31800000 35600000 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 31800000 35600000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 31800000 35600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 31800000 35600000 Duplication Autism high-density microarrays 22241247 chr7 31800000 35600000 Gain Williams-beuren syndrome Affymetrix GeneChip Human Mapping NspI Array 18553513 chr7 31800387 31800484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 31858802 32465959 LOH Normal High-resolution SNP genotyping 21211785 chr7 31858802 32473340 LOH Normal High-resolution SNP genotyping 21211785 chr7 31858802 32480217 LOH Normal High-resolution SNP genotyping 21211785 chr7 319099 321058 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32003714 32037661 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 32012860 32012960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32085663 32119736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 32091906 32092006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32104072 32104381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32104166 32104261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32107831 32107928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32119633 32119733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32135453 32135697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32139729 32139783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32152127 32197461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 32160794 32182648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 32162747 34385075 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 322191 322261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32253376 32253644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32269910 32270613 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32281009 33052916 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 32298191 32303246 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32308373 32851756 Gain and loss Pancreatic cancer SNP array 17952125 chr7 323479 323943 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32354801 32361500 Deletion Glioma mate-paired sequence 20126413 chr7 32356677 32359637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32370501 32372000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 32423693 32423793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32425253 32426871 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32445517 32445627 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32449677 32449777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32477585 32478262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32488842 32574596 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32492941 32497000 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 32492942 32501420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 32492942 32501420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32501663 33045041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 32501663 33045041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32501700 32590304 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 32501701 32590304 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 32508000 32531593 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 32522700 32522800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 32531211 32531297 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32556210 32713204 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 32604667 32604795 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32611701 33649000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 32635896 32651422 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32638333 32673604 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 32667087 32770713 Duplication Autism quantitative PCR 19404257 chr7 32681026 32704612 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32697911 32703662 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 32701470 32701558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3270519 3270756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32724496 32724582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32730111 32755815 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32734086 32736120 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 32739118 32739214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32741081 32744772 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 3274584 4180876 LOH Normal High-resolution SNP genotyping 21211785 chr7 32747371 32747594 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32768471 32768534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32770292 32819782 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32777732 32777784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32785523 32822394 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 32788749 32789031 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32797952 32798080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32814812 32814905 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32822356 38523156 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 32826984 32875574 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32858650 32858942 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32874311 32897897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 32874311 32897897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32907652 32922242 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32913425 32913497 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 32922953 32949307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32923396 32949307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32942414 33418920 Gain and loss Pancreatic cancer SNP array 17952125 chr7 32963577 33013067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 32963577 33013067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 32968882 32971593 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 32978614 32991778 Amplification Glioblastoma multiforme Array CGH 19115005 chr7 32990596 32990695 Gain and loss Pancreatic cancer SNP array 17952125 chr7 33008097 33008190 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33020266 33068934 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 33020267 33068934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 33020267 33068934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33051935 33052227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33051936 33052227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 3307605 4275157 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 3307605 4275157 Deletion Intellectual disability 100k SNP Array 21811512 chr7 3307606 4275158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 3307606 4275158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33097353 33153804 Gain Autism Exome sequencing and CGH 22495309 chr7 33100934 33115527 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 33100937 33115527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 33100937 33115527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33133404 34798948 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 33135677 33612205 Copy number Autism exome sequencing 22495311 chr7 33135677 33612205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 33135677 33612205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33144334 33146877 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 33158940 33159940 Loss Osteosarcoma References 21215367 chr7 33166625 33167625 Loss Osteosarcoma References 21215367 chr7 33183877 33183995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33195319 33195539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33224906 54384902 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 33315409 33315508 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 33353864 33353943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33370057 33370384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 33392813 33486178 Gain aortic dissecting aneurysms Array-CGH 22263138 chr7 33458570 33458645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33536479 34385075 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 33538833 33541301 Gain and loss Pancreatic cancer SNP array 17952125 chr7 33544895 33544990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3360541 3360641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33611684 33611755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3361593 3381593 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 33629256 33629326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33649001 34256200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 33655606 33655706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33672016 33735989 Indels Normal Affymetrix and Illumina arrays 20811451 chr7 33674799 33674932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 3370996 3371096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33717763 33968724 Gain and loss Pancreatic cancer SNP array 17952125 chr7 33732118 33734590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 33732118 33734590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33736665 33736764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33766223 43472173 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 337806 337904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33813918 33814231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33865367 33865697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 33871739 33871796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 33911047 34162009 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 33911048 34162009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 33911048 34162009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 33921771 33921871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33938582 33938682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 33976405 33977063 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 34005998 34006998 Gain Osteosarcoma References 21215367 chr7 34050050 34050350 Loss Osteosarcoma References 21215367 chr7 34062908 34062989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34110348 34110448 Gain and loss Pancreatic cancer SNP array 17952125 chr7 34110348 34110451 Gain and loss Pancreatic cancer SNP array 17952125 chr7 3411837 3431422 Copy number Normal - 20703242 chr7 34159371 34571124 Gain and loss Pancreatic cancer SNP array 17952125 chr7 34170599 34170631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34172321 34217265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 34188992 34189077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34198095 34198212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34237088 34237176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3425225 3425307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34254627 34254717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34256201 35091100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 34264703 54860330 Deletion Acute myeloid leukemia - 21251322 chr7 34303633 34303735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34317837 34318837 Gain Osteosarcoma References 21215367 chr7 34318132 34319132 Loss Osteosarcoma References 21215367 chr7 3433986 3434045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 34356559 34767328 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 34356559 34767328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34373151 34374151 Loss Osteosarcoma References 21215367 chr7 3438507 3438607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34397433 34397483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34421330 34467197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 34435925 34436925 Gain Osteosarcoma References 21215367 chr7 34445925 34446925 Gain Osteosarcoma References 21215367 chr7 34462483 34462598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 34471137 34691184 Gain and loss Pancreatic cancer SNP array 17952125 chr7 34492643 34492799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34492792 34492966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34501491 35306017 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 34501491 35840065 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 3451251 3451351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34543166 34544166 Gain Osteosarcoma References 21215367 chr7 34566276 34566566 Gain and loss Pancreatic cancer SNP array 17952125 chr7 34614224 34614571 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 34614229 34614574 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 34652234 34666297 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 3466101 4756400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 34662423 34662523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34664421 34884469 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 34664422 34884469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 34664422 34884469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34676579 34702727 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr7 34698205 34706156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 34705270 34705398 Gain and loss Pancreatic cancer SNP array 17952125 chr7 34709914 34710088 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 34741734 34826465 Gain and loss Pancreatic cancer SNP array 17952125 chr7 34743376 34744376 Loss Osteosarcoma References 21215367 chr7 34751314 34751614 Loss Osteosarcoma References 21215367 chr7 34759561 34759851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34759561 34759858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34788188 34813709 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 34798948 35645372 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 34805829 34805897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34853980 34860349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 34862278 34880300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 34866098 34868113 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 34886000 34931173 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 34887772 34887872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 34898555 34898683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34918893 34974890 Gain and loss Pancreatic cancer SNP array 17952125 chr7 34927606 35044178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 34927606 35044178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34935017 35044178 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 34935017 35044178 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 34935017 35044178 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 34939000 34962801 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 34946897 34946971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 34962305 34962384 Gain and loss Pancreatic cancer SNP array 17952125 chr7 34964000 34998129 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 34982076 34982390 Gain and loss Pancreatic cancer SNP array 17952125 chr7 35013846 35013895 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 35025000 35054308 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 35044352 35066482 Gain and loss Pancreatic cancer SNP array 17952125 chr7 35050463 35051902 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 35087426 35192299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 35091101 35799500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 35095980 35113871 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 35155590 35155669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 35185414 35227914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 35208567 35260283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 35208567 35260283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 35259501 35268500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 35275041 35275530 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 35393112 35393184 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 35400000 107200000 Amplification Esophageal squamous carcinoma CGH 21637470 chr7 35400000 107200000 Gain Non-small cell lung cancer dChip 21829676 chr7 35400000 90900000 Amplification Biliary cancer Array CGH 19435499 chr7 35400000 90900000 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr7 35400000 90900000 Gain Multiple myeloma CGH, FISH 16461302 chr7 35400000 97900000 Amplification Glioblastoma multiforme 50K Xba SNP mapping arrays (Affymetrix) 21750150 chr7 35400000 97900000 Gain Cancer array-based techniques 21183584 chr7 35400000 97900000 Gain Hepatocellular carcinoma Array CGH 16750200 chr7 35415621 35415721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 35417964 35418264 Loss Osteosarcoma References 21215367 chr7 35427379 35473233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 35445512 35507969 Gain and loss Pancreatic cancer SNP array 17952125 chr7 35452585 35453585 Loss Osteosarcoma References 21215367 chr7 35461291 35462291 Gain Osteosarcoma References 21215367 chr7 35471729 35840065 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 35486078 35486178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 35493949 35527080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 35509266 35544570 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 35574496 35574555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 35581197 35581490 Gain and loss Pancreatic cancer SNP array 17952125 chr7 35597466 35893678 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 35600000 37500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 35600000 37500000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 35600000 37500000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr7 35600000 37500000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr7 35614069 35718155 Gain and loss Pancreatic cancer SNP array 17952125 chr7 35638794 35701270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 35638794 35701270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 35645372 43044756 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 35648493 42617046 Loss Prostate cancer Array CGH 18632612 chr7 35659888 35660276 Gain and loss Pancreatic cancer SNP array 17952125 chr7 3568378 3576369 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 3568378 3597190 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 35688476 35688679 Gain and loss Pancreatic cancer SNP array 17952125 chr7 35734706 35735706 Gain Osteosarcoma References 21215367 chr7 35743006 35743114 Gain and loss Pancreatic cancer SNP array 17952125 chr7 35743010 35743114 Gain and loss Pancreatic cancer SNP array 17952125 chr7 3576369 3584887 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 3576931 3588769 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 3576960 3585465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 35774482 35774775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 35807345 35911440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 35807345 35911440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 35819385 35819485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 35821800 35822800 Loss Osteosarcoma References 21215367 chr7 35821965 35822965 Loss Osteosarcoma References 21215367 chr7 3584887 3597190 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 35849024 35849108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 35853181 35853561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 35936293 35936399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 3594029 3594129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 35966104 36114386 Gain and loss Pancreatic cancer SNP array 17952125 chr7 35972889 36844270 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 35987789 35988789 Loss Osteosarcoma References 21215367 chr7 36001901 37595800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 36074495 36407495 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr7 36085219 36091865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36114247 36114347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 36137073 36202936 Gain and loss Pancreatic cancer SNP array 17952125 chr7 36150518 36150627 Gain and loss Pancreatic cancer SNP array 17952125 chr7 36150519 36150627 Gain and loss Pancreatic cancer SNP array 17952125 chr7 36159361 36307677 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 36159361 36307677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36202672 36266638 Gain and loss Pancreatic cancer SNP array 17952125 chr7 3620973 3622062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 36217747 36219537 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 36220617 39454216 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 chr7 36319198 36319282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 36323243 36324243 Loss Osteosarcoma References 21215367 chr7 36325447 36326447 Gain Osteosarcoma References 21215367 chr7 36325850 36537299 Gain and loss Pancreatic cancer SNP array 17952125 chr7 36330284 36396259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 36330284 36396259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36343801 36343912 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36395956 36459925 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 36395957 36459923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 36395957 36459923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36395957 36459925 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 36406530 36406615 Gain and loss Pancreatic cancer SNP array 17952125 chr7 36407694 36408467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 36416888 36441480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 36427915 36428332 Gain Normal 244K array 17666407 chr7 36428730 37791315 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 36476143 36476238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 36492965 36493132 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 36519132 36730678 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 36519135 36730595 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 36519135 36730595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36525200 36525300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3656205 3667636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 36575402 36575502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 36599803 36599900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36599815 36599900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36615781 36615881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 36622214 36622314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 36648277 36648374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36657728 36675220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 36667207 37261696 Gain and loss Pancreatic cancer SNP array 17952125 chr7 36708403 36710136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 36710621 36710721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 36754413 36785649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 36825089 36825823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36845405 36845493 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 36847017 36847049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 36860485 37455055 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 36860486 37455036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 36860486 37455036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36867692 36879647 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 36925487 36925562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 36933336 36933436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 36982525 36982623 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37000000 50800000 Gain Acute myeloid leukemia BAC Array CGH 17237825 chr7 37010412 38594806 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 37111653 37111740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37175810 37175908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37188365 37188866 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37200000 43300000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 chr7 37200000 43300000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr7 37200000 43300000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 chr7 37232471 37232610 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37247958 37248057 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37273559 37273659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37357272 37357372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37371953 37631800 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 37381635 37382151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37389339 37389399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37398343 37399172 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37409342 37454749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 37425756 37425895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37432150 37435020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 37441243 37441344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37443803 37444129 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 37500000 158821424 Gain Medulloblastoma SNP arrays 21979893 chr7 37500000 43300000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 37500000 43300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 37500000 43300000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 37500000 43300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 37500000 43300000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr7 37500000 43300000 Gain Multiple myeloma CGH, FISH 16461302 chr7 37500000 43300000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 37500000 43300000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr7 37553236 37554153 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37562873 37566552 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37591628 37592457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37600000 39280000 Deletion Sezary syndrome Array-based CGH 18413736 chr7 37601063 37601157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37636456 37636550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37661439 37713236 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37684885 37684985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37718783 37729618 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37719741 38028579 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 37733403 37764774 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37743772 37743872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37746521 37747438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 37746521 37747438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37753129 37756079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 3775895 3776995 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 3775975 3777075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 3777654 3808977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 37800000 107200000 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 chr7 37800000 158821424 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 37803169 37808983 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 37832999 37833099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37836433 37836652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37836635 37836754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37836637 37836859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37854724 37906525 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 37854724 37906525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37891262 40338396 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 37912059 37923050 Gain or loss Breast cancer - 20668451 chr7 37912059 37923050 Gain or loss Cancer - 20668451 chr7 37912059 37923050 Gain or loss Lung cancer - 20668451 chr7 37912059 37923050 Gain or loss Ovarian cancer - 20668451 chr7 37912059 37923050 Gain or loss Pancreas cancer - 20668451 chr7 37912059 37923050 Gain or loss Prostate cancer - 20668451 chr7 37912060 37923050 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 37912247 37922903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 37912247 37922903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 37926688 37958065 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 37926688 37958065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 3793447 3793547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37965033 37965347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 37965833 37965933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37967097 37967197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 37991166 38043511 Gain and loss Pancreatic cancer SNP array 17952125 chr7 37991943 38296695 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 38006052 38006639 Loss Normal 244K array 17666407 chr7 38049507 38087361 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 38052436 38167358 Gain and loss Pancreatic cancer SNP array 17952125 chr7 38055501 38058000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 38061288 38179436 Loss or gain Normal 244K array 17666407 chr7 38067354 38093014 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38067354 38105534 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38067354 38125215 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38076360 38125215 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38076360 38178211 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 38084338 38092618 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 38084338 38125215 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38084338 38160031 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38084338 38178211 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38092579 38125215 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38092579 38144574 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38092579 38178211 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38100 38700 Copy number Lymphoma KC-SMARTR 21070656 chr7 3812477 3812544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 38144829 38179897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 38147848 38148355 Gain and loss Pancreatic cancer SNP array 17952125 chr7 38150662 38150762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38154224 38180422 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 38156574 38171759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 38178211 141514700 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38184458 38236794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 38184458 38236794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38190796 57730637 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 38196547 38444260 Gain and loss Pancreatic cancer SNP array 17952125 chr7 38209079 38209169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38209198 38209377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38218488 38218588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38227835 38227881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38245307 38324392 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 38246150 38255698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38251784 38277712 Gain Normal aCGH 21627829 chr7 38254452 38358549 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 38256040 38377747 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 38256040 38377747 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 38257239 38362989 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 38259506 38259555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38260614 38371610 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 38262463 38262522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38264348 38285989 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 38265768 38282444 Copy number Multiple sclerosis Affymetrix 6.0 arrays 20428171 chr7 38266214 38271804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 38266214 38271804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38271943 38272043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38275617 38275666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38275664 38282437 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 38275667 38282441 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 38277623 38318765 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 38279713 38279775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38282385 38282444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38282437 38297742 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 38282441 38355480 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 3828244 38323145 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 38285115 38346971 Copy number Neuroblastoma 550K SNP array 19536264 chr7 38297742 38298204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38297742 38305937 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 38305937 38306406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38323143 38323618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38336469 38336947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38341383 43964871 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 38343882 38344179 Gain and loss Pancreatic cancer SNP array 17952125 chr7 38351034 38374286 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 38353408 38362570 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 38355480 38368989 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 38355481 38355950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38359841 38360309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38364638 38365105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38368990 38369454 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 38368990 38369454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38373712 38374181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38389829 38637545 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 38389832 38637545 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 38389832 38637545 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38474985 38475312 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 38479532 38479868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 38498187 38499877 Gain and loss Pancreatic cancer SNP array 17952125 chr7 38523156 39007724 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 38536784 38722040 Gain and loss Pancreatic cancer SNP array 17952125 chr7 38537167 38537464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38537168 38537464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38542357 38542457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38547413 38547463 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 38680917 38859847 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 38691469 38693162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 3871971 5993219 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr7 38730068 38915325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 38730068 38915325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38759699 38759922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38819648 39277630 Gain and loss Pancreatic cancer SNP array 17952125 chr7 38947173 38947273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38976016 38976099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 38984123 39470915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 38984123 39470915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 38992220 39163879 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 39007724 44594508 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 39012932 39470915 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 3902818 3902918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39059706 39059786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39141842 39141973 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39145185 39145267 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3920136 3920196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39201459 39201559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 3922078 3946854 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 39272929 39273021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39293136 39293214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39300000 45900000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr7 39335127 39335258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39336407 39353331 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 3934063 3934147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39346868 39346932 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 39349848 40468520 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 39353792 39354408 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 39379249 39385720 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39383602 39383702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39416193 39416288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39422326 39424927 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39436402 39520955 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39500000 41700000 Loss Acute lymphoblastic leukemia - 21339820 chr7 39504058 39504158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39512888 39518376 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 39513318 39518739 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 39520335 39531359 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 39520536 40235645 LOH Normal High-resolution SNP genotyping 21211785 chr7 39558583 39558896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 39563899 39564163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 39572534 39579005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 39572534 39579005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39573000 39607000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 39581181 39581283 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39587570 39628775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 39604435 39639699 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 39627271 39627394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 39629686 39714242 Gain or loss Breast cancer - 20668451 chr7 39629686 39714242 Gain or loss Cancer - 20668451 chr7 39629686 39714242 Gain or loss Lung cancer - 20668451 chr7 39629686 39714242 Gain or loss Ovarian cancer - 20668451 chr7 39629686 39714242 Gain or loss Pancreas cancer - 20668451 chr7 39629686 39714242 Gain or loss Prostate cancer - 20668451 chr7 39629687 39714240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 39629687 39714240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39646410 39647557 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39667333 39667895 Gain and loss Pancreatic cancer SNP array 17952125 chr7 3967701 3971500 Deletion Glioma mate-paired sequence 20126413 chr7 39691135 39691222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39701215 39701503 Gain and loss Pancreatic cancer SNP array 17952125 chr7 3974694 3991443 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 39749703 39749957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39763199 39908385 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39774466 39774568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39786622 39791732 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 39796427 41238411 LOH Normal High-resolution SNP genotyping 21211785 chr7 39798001 39804500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 39803300 39803358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39812397 41238411 LOH Normal High-resolution SNP genotyping 21211785 chr7 39813709 40099186 Gain Bladder cancer array-CGH 21909424 chr7 39836560 39836869 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 39839338 39841069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 39839338 39841069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39859911 39861180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 39859911 39861180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39894497 39894786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39894500 39894788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39940962 39941071 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39940963 39941071 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39945583 39947456 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39947839 40673597 Gain and loss Pancreatic cancer SNP array 17952125 chr7 39956484 40101668 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 39956484 40101668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 39961909 39961988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 39966247 40040203 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 4005443 4021297 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 40054720 40055226 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 40134245 40134356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 40138867 40140783 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 40138868 40140741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 40138868 40140741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4014083 40138867 Copy number Autism exome sequencing 22495311 chr7 40141099 40866882 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 40141099 40866882 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 40141100 40866882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 40141100 40866882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 40172663 40172758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40248587 40268403 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 40251884 40268403 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 40260455 40260555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40263759 40286228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 40356584 40356684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40358307 40392583 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 4037101 4051242 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 40443150 40927775 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 4044593 4044691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4047791 4048822 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 40508523 40508613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40511871 40667114 Copy number Lung cancer paired-end sequencing 18438408 chr7 40517460 40517545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40538365 40538465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40606348 40819984 Deletion Dyslexia Array CGH 22102821 chr7 40612901 40613001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40613004 40613104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40624805 41684632 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 40640718 40656347 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 40664840 40664940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40681324 61077714 Copy number Lung cancer paired-end sequencing 18438408 chr7 4068146 4077116 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 40682067 40682147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40693540 40693640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40737665 40737759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40799262 40833053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 40886615 40886715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 40905665 40905735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4095001 4154500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 41097831 41097925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41143388 41143488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41159278 41262761 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 41221261 41265733 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 4124764 4126842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 41279517 42137566 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 41292574 41292658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41310687 41310747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41310791 41311021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41317624 41317724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41396055 41396155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4139643 4139743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41427377 41427432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41435907 41436007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41502030 41515915 Gain and loss Pancreatic cancer SNP array 17952125 chr7 41521344 41566740 Deletion Oligozoospermia Array-CGH 20877625 chr7 41521344 41566740 Deletion Sertoli-cell only syndrome Array-CGH 20877625 chr7 41532185 41532285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4154501 4157500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 4157501 4279000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 41576814 41576914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41608698 41608798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41609717 41643050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 4163478 4163606 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 41695125 41709231 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 41695126 41709231 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 41695126 41709231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 41696190 41696290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41763225 41796574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 41776920 42036135 Gain and loss Pancreatic cancer SNP array 17952125 chr7 41782070 41782155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41849666 41849745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4189109 4222871 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 41914124 41914213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41926204 41926462 Gain and loss Pancreatic cancer SNP array 17952125 chr7 41967072 42243137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 41967072 42243137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 41967072 42243321 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 41967072 42243321 Copy number Lung cancer - 20668451 chr7 41967072 42243321 Deletion Greig cephalo-polysyndactyly syndrome multiplex amplifiable probe hybridization 19308487 chr7 41967072 42243321 Gain or loss Breast cancer - 20668451 chr7 41967072 42243321 Gain or loss Cancer - 20668451 chr7 41967072 42243321 Gain or loss Lung cancer - 20668451 chr7 41967072 42243321 Gain or loss Ovarian cancer - 20668451 chr7 41967072 42243321 Gain or loss Pancreas cancer - 20668451 chr7 41967072 42243321 Gain or loss Prostate cancer - 20668451 chr7 41967544 41967644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 41971001 41973000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 41981689 42834321 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 41998646 41998735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42010819 42010892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42062869 42062969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42065335 42065435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42119489 42119747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 42128141 42128239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42182034 42182134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4219113 4219213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4220425 5220425 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 42212024 42325520 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 42253398 42254297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 42270162 42270262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42284843 42316093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 42294133 42321714 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 42294655 42307974 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 42367253 42367353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42385221 42385311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42391380 42391436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42415852 42415928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 42491208 43167807 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 42494566 42517516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 42516226 42516547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 42524164 42525853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 42529866 42530031 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42571148 42571489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 42571489 42614168 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 4257456 4257544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42607736 42609003 Gain and loss Pancreatic cancer SNP array 17952125 chr7 42637994 42730277 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 42647455 42647658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42647642 42647741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42647643 42647841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4266968 4267068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42720887 42720967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 42722114 42724897 Gain and loss Pancreatic cancer SNP array 17952125 chr7 42729704 42745045 Gain and loss Pancreatic cancer SNP array 17952125 chr7 42745179 42750691 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4279001 4721500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 42909571 42909678 Gain and loss Pancreatic cancer SNP array 17952125 chr7 42909571 42909681 Gain and loss Pancreatic cancer SNP array 17952125 chr7 42915399 42918182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 42915399 42918182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 42922985 42938330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 42922985 42938330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 42922986 42938330 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 42922986 42938330 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 42930735 42976026 Gain and loss Pancreatic cancer SNP array 17952125 chr7 42938463 42943978 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 42938464 42943976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 42938464 42943976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4299801 4326589 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 43007261 43007321 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43020601 43020705 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43044756 46075500 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 43052666 43073832 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 43053158 43073820 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 43086995 43087390 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43102856 43102968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 43118722 43569463 Copy number Lung cancer - 20668451 chr7 43118722 43569463 Gain or loss Breast cancer - 20668451 chr7 43118722 43569463 Gain or loss Cancer - 20668451 chr7 43118722 43569463 Gain or loss Lung cancer - 20668451 chr7 43118722 43569463 Gain or loss Ovarian cancer - 20668451 chr7 43118722 43569463 Gain or loss Pancreas cancer - 20668451 chr7 43118722 43569463 Gain or loss Prostate cancer - 20668451 chr7 43118723 43569463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 43118723 43569463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 43124020 43169311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 43124020 43169311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 43124618 43376178 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43152885 43152977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 43208626 43208699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 43210000 77400000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr7 43213886 43213990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4326589 4329436 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 43280283 43280666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4328902 4329052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4329436 4337295 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 43300000 46600000 Copy number Acrocallosal syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr7 43300000 46600000 Copy number Glioblastoma multiforme bi-clustering algorithm 21949216 chr7 43300000 46600000 Copy number Greig cephalo-polysyndactyly syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr7 43300000 46600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 43300000 46600000 Gain Barrett's adenocarcinoma FISH 18663352 chr7 43300000 46600000 Gain Multiple myeloma CGH, FISH 16461302 chr7 43300000 49800000 Deletion Abnormal phenotypes Array-CGH 18644119 chr7 43312362 43319042 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 4331806 4503724 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 4331806 4503724 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 43334055 43334094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4337295 4354758 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 43378498 43378567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 43380651 43380906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 43380651 43380907 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 43395966 43438962 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43402308 43931371 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 43402308 43931371 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 43452096 43542325 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43523372 43549372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 4354758 4355147 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 43571512 43620172 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43572625 43572695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 43589217 43633502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 43589217 43633502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 43595630 43595693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 43614608 43735608 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 43614608 43735608 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 43630795 43631156 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 43645381 43735620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 43645381 43735620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4365856 4519892 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 43679397 43682348 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43688733 43719429 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43725779 43830031 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr7 43725779 43830031 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 43739287 43766403 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43764797 43813464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 43764797 43813464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4376790 4410527 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 43774426 43832009 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43790421 43827597 Loss Normal 244K array 17666407 chr7 43811977 44149254 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 43813728 43822962 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4383474 4385353 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 43857556 43874553 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43872681 43875670 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 43872682 43875670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 43872682 43875670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 43875570 43878424 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43882030 43932521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 43882030 43932521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 43885089 43895324 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43894228 43894328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4391472 4414510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 43917200 43927398 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43919287 43919339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 43927527 43934953 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43932571 43959688 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 43932572 43959688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 43932572 43959688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4394468 4439204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 43944978 45169498 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr7 43947018 44025273 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 4394723 4431796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 43951705 43954156 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43957110 44002278 Gain and loss Pancreatic cancer SNP array 17952125 chr7 43967711 43979449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 43967751 44063000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 43977195 44031483 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 43978476 44545649 LOH Normal High-resolution SNP genotyping 21211785 chr7 43978476 44550031 LOH Normal High-resolution SNP genotyping 21211785 chr7 4398021 4412161 Gain and loss Pancreatic cancer SNP array 17952125 chr7 439860 28732726 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 43994248 44025296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44007013 44016247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44007013 44016247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44013818 44027132 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44032137 44138464 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44035010 44046747 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 44049099 45732795 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 44049179 44049502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 44050830 44067838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44050830 44067838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44063001 44073000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44068855 44071709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44068855 44071709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44073001 44115500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 4407768 4407868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44078371 44088607 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 44078374 44088607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44078374 44088607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44110485 44120683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44110485 44120683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44115501 44123500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 4411930 4412093 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 44120810 44129672 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 44120811 44129655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44120811 44129655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44123501 44144500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44144501 44166500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44144990 44147441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44144990 44147441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44150395 44195563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44150395 44195563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44159325 44159425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44166501 44194000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 4417726 4417826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44194001 44196500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44195123 44303486 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44196501 44219500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44207102 44220418 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 44207103 44220417 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44207103 44220417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44217645 44218054 Loss Normal 244K array 17666407 chr7 44219501 44296000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44220036 44220136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44221299 44221399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44223280 44331749 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44223280 44331749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44227114 57536396 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 44273470 44273534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44280736 44281143 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44296001 44400000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44304674 53158630 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.25 20877625 chr7 44316612 44316718 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44316613 44316718 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44326286 44354098 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44378644 44387890 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44389716 44496771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44389716 44496771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44390736 44395057 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44419478 44521905 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44434350 44434450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44469882 44469967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44473967 44474477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44509897 44510003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44518001 44545000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44518659 44547439 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 44518664 44547439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44518664 44547439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44545001 44547500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44547501 44587500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44548667 44564066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 44566698 44566845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 44569018 44582717 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44571927 44580662 Amplification Intellectual disability 100k SNP Array 21811512 chr7 44571927 44580662 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 44571929 44580662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44571929 44580662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44584435 44588352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44584435 44588352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44585286 44588365 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 44587501 44589000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44589001 44760500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44609519 44615955 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44612696 44715193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44612696 44715193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44642642 44660949 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44654153 44688095 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 4466043 4484678 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 4468288 4484678 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 44685328 44697904 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 44697249 44698187 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44722859 44724373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44755055 44776002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44755055 44776002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4475515 6837609 Gain Bladder cancer array-CGH 21909424 chr7 44760501 44775500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44775501 44791918 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44775501 44967500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44798217 44798349 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44802805 44807754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44813027 44889281 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4481953 5481953 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 44833012 44854250 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 44833013 44854255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44833013 44854255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44889059 44891485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44891252 44892616 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44893348 44898898 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44910424 44924557 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44917188 44917321 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44917745 44917881 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44917748 44917881 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44918807 44918937 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44918807 44918938 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44920744 44950815 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 44924846 44924920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 44927301 44931100 Deletion Glioma mate-paired sequence 20126413 chr7 44934116 44934216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4495181 4575412 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44958101 45717100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44967501 44983500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44968786 44985193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 44968786 44985193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 44970639 44997087 Gain and loss Pancreatic cancer SNP array 17952125 chr7 44983501 45078500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 44991502 44991634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4500000 13300000 Amplification Ovarian clear cell carcinoma FISH 19293255 chr7 4500000 13800000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr7 4500000 25500000 Gain Prostate cancer Array CGH 16573809 chr7 4500000 7200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 4500000 7200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 4500000 7200000 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr7 4500000 7200000 Gain Malignant fibrous histiocytomas aCGH 21085701 chr7 4500000 7200000 Gain Prostate cancer Array CGH 16573809 chr7 4500000 7200000 Loss Breast cancer aCGH 21045282 chr7 4500000 7200000 Loss Disorders of sex development oligo V6.3 21048976 chr7 45005888 45082594 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 45006312 45082593 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 45006312 45082593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45020224 55392724 Gain Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 chr7 4502352 4502455 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45055543 45529272 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 45055543 45529272 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 45078501 45096000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45086562 45092185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 45086562 45092185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45096001 45178000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45106223 45117842 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 45106225 45117842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 45106225 45117842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45110473 45110606 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45111030 45111166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45112092 45112223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45114009 45114054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45163892 45190372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 45163892 45190372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45178001 45196000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45180992 45274014 Deletion Intellectual disability Array CGH 22102821 chr7 45196001 45579500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45203011 45203079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45214239 45214374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45219364 45219456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45236873 45236905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45262182 45262282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45294289 57299457 Amplification Esophageal cancer affymetrix genechip human mapping 253K Nsp arrays 21851588 chr7 45332842 45367306 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 45387361 45535952 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45395594 45395694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45400000 49000000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 chr7 45400000 49000000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 chr7 45400000 54000000 Amplification Anaplastic thyroid cancer FISH 17079354 chr7 45400000 54000000 Amplification and deletion Breast cancer ddPCR 17661082 chr7 45400000 54000000 Amplification Basal-like breast cancer BAC array CGH 17875215 chr7 45400000 54000000 Amplification Colorectal cancer FISH 16882699 chr7 45400000 54000000 Amplification Colorectal cancer FISH 18794099 chr7 45400000 54000000 Amplification Gastrointestinal stromal cancer FISH 17643098 chr7 45400000 54000000 Amplification head and neck squamous cell carcinoma Real-time PCR 16818711 chr7 45400000 54000000 Amplification Lung cancer Real-Time PCR 18381415 chr7 45400000 54000000 Amplification Metastatic colorectal cancer EGFR 17664472 chr7 45400000 54000000 Amplification Non-small cell lung cancer FISH 17643093 chr7 45400000 54000000 Amplification Non-small cell lung cancer FISH 17673923 chr7 45400000 54000000 Amplification Non-small cell lung cancer FISH 17975165 chr7 45400000 54000000 Amplification Non-small cell lung cancer FISH 19255323 chr7 45400000 54000000 Amplification Non-small cell lung cancer FISH 19622585 chr7 45400000 54000000 Amplification Ovarian cancer CISH 16607561 chr7 45400000 54000000 Amplification Ovarian cancer FISH 18182111 chr7 45400000 54000000 Amplification small cell lung cancer FISH 18829487 chr7 45400000 54000000 Amplification Squamous cell cancer FISH 19670535 chr7 45400000 54000000 Copy number Adenocarcinoma CISH 19260752 chr7 45400000 54000000 Copy number Esophageal cancer Chromogenic In Situ Hybridization 16575012 chr7 45400000 54000000 Copy number head and neck squamous cell carcinoma FISH 18813952 chr7 45400000 54000000 Copy number head and neck squamous cell carcinoma FISH 19289630 chr7 45400000 54000000 Copy number Lung adenocarcinoma FISH 19138956 chr7 45400000 54000000 Copy number Lung adenocarcinoma FISH assay 18379350 chr7 45400000 54000000 Copy number Lung adenocarcinoma PCR 18258923 chr7 45400000 54000000 Copy number Lung cancer FISH 19138956 chr7 45400000 54000000 Copy number Lung cancer FISH assay 18379350 chr7 45400000 54000000 Copy number Lung cancer PCR 18258923 chr7 45400000 54000000 Copy number Non-small cell lung cancer - 18304967 chr7 45400000 54000000 Copy number Non-small cell lung cancer AffymetrixGenotypingToolssoftware 19451690 chr7 45400000 54000000 Copy number Non-small cell lung cancer CISH 19260752 chr7 45400000 54000000 Copy number Non-small cell lung cancer FISH 17079354 chr7 45400000 54000000 Copy number Non-small cell lung cancer FISH 18559607 chr7 45400000 54000000 Copy number Non-small cell lung cancer qRT 18304967 chr7 45400000 54000000 Copy number Rectal cancer References 19506820 chr7 45400000 54000000 Copy number Triple-negative breast cancer 7500 Fast Real-Time PCR 18950515 chr7 45400000 54000000 Deletion Non-small cell lung cancer FISH 16943533 chr7 45400000 54000000 Deletion Non-small cell lung cancer FISH 17504988 chr7 45400000 54000000 Deletion Non-small cell lung cancer Quantitative Real-Time PCR 18509184 chr7 45400000 54000000 Deletion or amplification head and neck squamous cell carcinoma Q-PCR 17538160 chr7 45400000 54000000 Gain Barrett's esophagus FISH 18559552 chr7 45400000 54000000 Gain Colorectal cancer FISH, CISH 19712476 chr7 45400000 54000000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr7 45400000 54000000 Gain Glioblastoma multiforme FISH and array CGH 17369134 chr7 45400000 54000000 Gain head and neck squamous cell carcinoma FISH 16943533 chr7 45400000 54000000 Gain Lung adenocarcinoma Agilent 44k arrays 19525976 chr7 45400000 54000000 Gain Lung cancer Agilent 44k arrays 19525976 chr7 45400000 54000000 Gain Lung cancer GeneChip Human Mapping 100K Set SNP arrays 19671679 chr7 45400000 58000000 Amplification head and neck squamous cell carcinoma CGH 17671120 chr7 454396 3012480 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 45448421 45454592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 45482605 47228088 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 45541014 45578670 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45542000 45580000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 45548976 45549076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45579501 45582500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45580000 45622000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 45580263 45729239 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 45580646 45729237 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 45580646 45729237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45582501 45651500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45602425 45602527 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45623802 45627765 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45629396 45633928 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45635000 45660036 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 45651501 45653500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45653501 45719000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45656473 45656576 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45656473 45656581 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4565745 4565845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45701327 45706499 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45716015 45716115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 45719001 45725500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45725198 45733979 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45729479 45729654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45731307 45731691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45734299 45771955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 45734299 45771955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45744207 45853599 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 45788216 45788278 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45793001 48803700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45795709 45795812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45812640 45813506 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45813001 45821000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45821001 45897000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45849758 45849864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45866331 55953447 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 45866770 45878113 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 45866770 45894202 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 4588505 4607267 Gain and loss Pancreatic cancer SNP array 17952125 chr7 45894483 45899792 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 45894483 45899792 Copy number Lung cancer - 20668451 chr7 45894483 45899792 Gain or loss Breast cancer - 20668451 chr7 45894483 45899792 Gain or loss Cancer - 20668451 chr7 45894483 45899792 Gain or loss Lung cancer - 20668451 chr7 45894483 45899792 Gain or loss Ovarian cancer - 20668451 chr7 45894483 45899792 Gain or loss Pancreas cancer - 20668451 chr7 45894483 45899792 Gain or loss Prostate cancer - 20668451 chr7 45894484 45899791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 45894484 45899791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45898751 47462139 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 45918368 45927396 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 45918368 45927396 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 45918368 45927396 Copy number Lung cancer - 20668451 chr7 45918368 45927396 Gain or loss Breast cancer - 20668451 chr7 45918368 45927396 Gain or loss Cancer - 20668451 chr7 45918368 45927396 Gain or loss Lung cancer - 20668451 chr7 45918368 45927396 Gain or loss Ovarian cancer - 20668451 chr7 45918368 45927396 Gain or loss Pancreas cancer - 20668451 chr7 45918368 45927396 Gain or loss Prostate cancer - 20668451 chr7 45918368 45927396 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 45918375 45927396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 45918375 45927396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 45920501 45926500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 45926501 45928000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 4600909 4632529 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 46025579 46025679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46073301 46073401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46075500 47386092 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 46080209 46082049 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 4609927 4696526 Gain and loss Pancreatic cancer SNP array 17952125 chr7 46101997 46102178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46102175 46102374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46104937 46130714 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 46135215 46179873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 4615166 4616374 Gain and loss Pancreatic cancer SNP array 17952125 chr7 46161255 46708961 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 4624062 4624161 Gain and loss Pancreatic cancer SNP array 17952125 chr7 46243073 46243173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46253179 46298349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 46289583 46726654 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chr7 46292369 46292469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46464946 46465046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46472915 46472988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46491388 46491473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46582361 46816276 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 46583737 46583837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46594211 46596257 Gain and loss Pancreatic cancer SNP array 17952125 chr7 46594219 46594304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46600000 49800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 46600000 49800000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 chr7 46664373 46664423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46704339 46704433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46736160 46736243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4678302 4678677 Gain and loss Pancreatic cancer SNP array 17952125 chr7 46785616 46785689 Gain and loss Pancreatic cancer SNP array 17952125 chr7 46795453 46795553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46796346 46798916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 46797552 46797652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 46865631 46866512 Gain and loss Pancreatic cancer SNP array 17952125 chr7 46868520 46897908 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 46868557 46897908 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 4688456 4777600 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 4688456 4777600 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 4688456 4777600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 4688456 4777600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4695637 4695740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 46959442 46994920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 47032055 47067404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 47058916 47059797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 47066357 47100334 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 47073340 47100334 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 47087994 47252477 Gain and loss Pancreatic cancer SNP array 17952125 chr7 47181824 47181924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47185604 47185699 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 4718862 4772036 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4719467 5166295 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 4721501 4787500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 47225158 54491738 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 47250132 47256866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 47279001 47666500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 47281276 47588267 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 47281277 47588216 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 47281277 47588216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 47284300 47284400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47314752 47621742 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 47324508 47445704 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 47360000 47750000 Gain Breast cancer aCGH 21509527 chr7 47365178 47365278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47377798 47377863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 47423185 47423277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47451609 47451709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47459998 47475422 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 475264 475353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47542390 47542456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 47546724 47546824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47550948 47551080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4756401 6881600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 47576203 47579609 Gain and loss Pancreatic cancer SNP array 17952125 chr7 47587530 47761277 Gain and loss Pancreatic cancer SNP array 17952125 chr7 47591874 47591974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47600000 107200000 Copy number Lissencephaly Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr7 47600000 107200000 Copy number Normal - 21701786 chr7 47600000 107200000 Gain Breast cancer - 16397240 chr7 47600000 107200000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr7 47600000 107200000 Gain Liposarcoma FISH, CGH 21253554 chr7 47600000 114400000 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr7 47608174 47632435 Gain and loss Pancreatic cancer SNP array 17952125 chr7 47610277 47610342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4762748 5705200 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 47661402 47665351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 47668874 47668925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 47687946 47687997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 477425 477473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4774269 4774588 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 47767866 49265675 LOH Normal High-resolution SNP genotyping 21211785 chr7 47769488 47772894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 47769488 47772894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 47777023 47792486 Gain and loss Pancreatic cancer SNP array 17952125 chr7 47780814 47954562 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 47780815 47954562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 47780815 47954562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 47799994 47841944 Gain and loss Pancreatic cancer SNP array 17952125 chr7 47801413 47825967 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 47801414 47825967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4781790 4797925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 4781790 4797925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 4781809 4800552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 47848348 47874131 Gain and loss Pancreatic cancer SNP array 17952125 chr7 47857520 47860271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 47861696 47862022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 4786888 4811038 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4787501 4800000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 47901481 47921569 Gain and loss Pancreatic cancer SNP array 17952125 chr7 47928219 47985771 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 47928219 47985771 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 47928219 47985771 Copy number Lung cancer - 20668451 chr7 47928219 47985771 Gain or loss Breast cancer - 20668451 chr7 47928219 47985771 Gain or loss Cancer - 20668451 chr7 47928219 47985771 Gain or loss Lung cancer - 20668451 chr7 47928219 47985771 Gain or loss Ovarian cancer - 20668451 chr7 47928219 47985771 Gain or loss Pancreas cancer - 20668451 chr7 47928219 47985771 Gain or loss Prostate cancer - 20668451 chr7 47952966 47953032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 47970308 47985771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 47970308 47985771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 47970595 47970665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47980242 47980314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 47986780 49160852 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 47993270 48035241 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 47993273 48035241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 47993273 48035241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 47994083 47994177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4800001 4804500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 48008258 48008579 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 48015104 48464352 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4803212 4889811 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 48041635 48067416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 48041635 48067416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 48041641 48067419 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 4804501 4812000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 48051852 48051937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4805266 4889861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 4805266 4889861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 48094766 48114855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 48094766 48114855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 48094879 48114855 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 48094880 48114855 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 4812001 4849500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 48135548 48135643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48143823 48143923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48164307 48211290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 4817345 4817446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 48199137 48199237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48208388 48657637 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 48208389 48657637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 48208389 48657637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 48251120 48251220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48257015 48521467 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-573K arrays 21546498 chr7 48259354 48398102 Loss Autism Exome sequencing and CGH 22495309 chr7 48312093 48312191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48363317 48371849 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 48399975 50793241 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 48424572 48431182 Amplification Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 chr7 48427174 49324894 LOH Normal High-resolution SNP genotyping 21211785 chr7 48453391 48453541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4849647 4866621 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 4849647 4869510 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 48520017 48520151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48540447 48540547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4858794 4880038 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4863890 4868151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 4863890 4868151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 48663913 48664013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48699658 48699742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48701755 48701855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4871587 4871959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 48718410 48757723 Gain Normal 244K array 17666407 chr7 48741418 48744310 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4877501 4881000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 48785138 48785237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 4881001 5266000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 48815451 48816628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 4884973 4886094 Gain and loss Pancreatic cancer SNP array 17952125 chr7 48868893 48868972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 48934703 48936158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 48934703 48936158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 49000000 50500000 Deletion Acute lymphoblastic leukemia human 500K SNP arrays 18768390 chr7 49000000 50500000 Gain and amplification Multiple myeloma Array CGH 16616336 chr7 49057385 49057616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 49057613 49057720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 49057626 49057783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 490872 526124 Gain and loss Pancreatic cancer SNP array 17952125 chr7 49101969 49134001 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 4912146 4965370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 49143880 49150569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 49160852 49652324 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 49213911 49236873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49247784 49292545 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49265494 49931792 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 4929990 4930941 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4934123 4940621 Gain and loss Pancreatic cancer SNP array 17952125 chr7 49438474 49438551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 49473319 49481667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49479345 49519629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49487802 49504662 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49491024 49508417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49492311 49506743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49492880 49504307 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49495245 49506385 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49495815 49523207 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 49522612 49522929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 49532240 49532340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 49590518 49729399 Gain and loss Pancreatic cancer SNP array 17952125 chr7 49592379 49611458 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 49625850 49625950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 49652324 56778668 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 49677137 49701034 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 49677137 49702281 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 49688701 49697900 Deletion Glioma mate-paired sequence 20126413 chr7 49690385 49696443 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 49690863 49696517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 49748577 49748632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 49754300 49910087 Gain and loss Pancreatic cancer SNP array 17952125 chr7 49781744 49804126 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 49781744 49804234 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 49783798 49922684 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 49783798 49922684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 49783802 49922684 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 49788503 49803792 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 49788503 49804126 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 49800000 50900000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr7 49800000 50900000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr7 49800000 50900000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr7 4980145 5004326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 4980145 5004326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 49820883 49837064 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 49883201 49897700 Deletion Glioma mate-paired sequence 20126413 chr7 4989875 5079378 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 4989875 5079378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 49913063 49913503 Gain and loss Pancreatic cancer SNP array 17952125 chr7 49921199 50228460 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 4992930 4993034 Gain and loss Pancreatic cancer SNP array 17952125 chr7 4992933 4993034 Gain and loss Pancreatic cancer SNP array 17952125 chr7 49947585 50103372 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 49947585 50103372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 49947585 50103372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 49952955 49976026 Gain and loss Pancreatic cancer SNP array 17952125 chr7 49985230 49985330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 49986297 49986397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 49987339 50101537 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 49995112 50127527 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 chr7 49998861 49998930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5003076 5044601 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50075317 50076620 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 50075343 50076699 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 5009518 5009864 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50121585 50244768 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5012619 5046824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 50142229 50142326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50144816 50421851 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 50146240 50169311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 50146240 50169682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50148762 50305027 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 50148762 51402761 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 50180000 50450000 Loss Acute lymphoblastic leukemia - 21339820 chr7 50193000 50241000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr7 50193500 50422330 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr7 50198172 50228460 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 50201174 50212002 Amplification or deletion Cancer Array CGH 17440070 chr7 50225730 50238371 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 5023605 5149325 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 50259976 50271371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 50277287 50277389 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50277287 50277390 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50286043 50292259 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50300345 50402960 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50314923 50440292 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chr7 50314923 50440292 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 50314923 50440292 Copy number Congenital hypothyroidism - 21372558 chr7 50314923 50440292 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 chr7 50314923 50440292 Deletion Acute lymphoblastic leukemia 250k Sty and Nsp SNP arrays 19129520 chr7 50314923 50440292 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr7 50314923 50440292 Deletion Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 50314923 50440292 Deletion Acute lymphoblastic leukemia oligonucleotide array 22368272 chr7 50314923 50440292 Loss Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K NspI,Genome-Wide Human SNP 6.0 array 20534699 chr7 50314923 50440292 Microdeletion Acute lymphoblastic leukemia RQ-PCR 22157735 chr7 50314924 50438053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 50314924 50440293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 50314924 50440293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50320813 50424682 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr7 503421 526459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 503421 526459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50373666 50385370 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5037792 5044012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50380132 50380221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50381206 50424682 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr7 50381206 50449506 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr7 50381219 50411402 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 50386119 50458852 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 50431975 50635367 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50455632 50455771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50470572 50470678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50473282 50473452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50479325 50485582 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 50479328 50577727 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 50479328 50577727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 50479328 50577727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50481564 50481564 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr7 50493630 50596245 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 50493630 50596262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 50493630 50596262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50494501 50496000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 50498801 51814400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 50509239 50541745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 50532195 50532295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50604923 50641160 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 50606059 50606149 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 506066 507949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50625258 50828652 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 50625258 50828652 Copy number Lung cancer - 20668451 chr7 50625258 50828652 Gain or loss Breast cancer - 20668451 chr7 50625258 50828652 Gain or loss Cancer - 20668451 chr7 50625258 50828652 Gain or loss Lung cancer - 20668451 chr7 50625258 50828652 Gain or loss Ovarian cancer - 20668451 chr7 50625258 50828652 Gain or loss Pancreas cancer - 20668451 chr7 50625258 50828652 Gain or loss Prostate cancer - 20668451 chr7 50625259 50828652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 50625259 50828652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50625260 50828652 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 50695851 50695943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 507188 30623992 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr7 50743 50837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50777256 50777399 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50777257 50777398 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5077842 5078307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 50781707 50781807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50789679 50789779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50823402 50823482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50858119 51158705 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50861044 50861096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50875057 50875155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50900000 53900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 50900000 53900000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr7 50900000 53900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 50900000 53900000 Gain Barrett's adenocarcinoma FISH 18663352 chr7 50911919 50911996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 50930954 51402761 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 5094609 5126000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 5095816 5116931 Gain and loss Pancreatic cancer SNP array 17952125 chr7 50970541 50970684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 50982893 50986469 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 50990049 50990149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 51049170 51049227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 51051402 51352009 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 51051404 51351990 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 51051404 51351990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 51051404 51351990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 51082266 51112275 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 51099308 51099408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5120300 5184099 Gain and loss Pancreatic cancer SNP array 17952125 chr7 51216627 51313401 Deletion Intellectual disability Array CGH 22102821 chr7 5123245 5124247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 51233000 51256021 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 51238397 51238666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 51298514 51298610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 51329590 51375299 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 51363514 51402690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 51363904 51363984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 51367702 51387450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 51369649 51369733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 51398102 51398130 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr7 51417501 51427500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 51521688 51521758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 51522714 51552663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 51536912 52078282 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 51536912 54208477 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 51558592 51558835 Gain and loss Pancreatic cancer SNP array 17952125 chr7 51559033 51569094 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 51559033 51569094 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 51559901 51568000 Deletion Glioma mate-paired sequence 20126413 chr7 51561805 51566176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 51561807 51563088 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 51563001 51566000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 51563094 51566183 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 51590070 52097652 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 51634297 53606429 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-552K arrays 21546498 chr7 51636486 51869014 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 51659390 51659712 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 51681085 51681185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 51685309 51685401 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 51705498 52134309 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 51751877 51752120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 51764656 51808078 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 51789789 51789842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 51818454 51821337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 51820098 51821340 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 5186218 5186319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 51886474 51886573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 51892014 51892099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5196360 5240012 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 5196361 5240012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 5196361 5240012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5202803 5203149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 52034784 52034862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 52050130 52050333 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 52062457 52062769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 52074602 52074918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 52095655 53331026 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr7 52097652 53084617 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 52110439 52110539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 52111350 52111464 Gain and loss Pancreatic cancer SNP array 17952125 chr7 52122403 52122553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 52159032 52159132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 52160342 52160473 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 52162978 52163078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 52304635 52304749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5233204 5234118 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5240455 5241120 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5244207 5326623 Gain and loss Pancreatic cancer SNP array 17952125 chr7 52442396 52442496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 52486310 52486714 Gain and loss Pancreatic cancer SNP array 17952125 chr7 52487666 52487867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 52496482 52893842 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 52527918 52527950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 52638672 52763350 Amplification Normal Arbitrated Peel-off 21527027 chr7 52638672 52763350 Amplification Normal Standard peel-off 21527027 chr7 5266001 5432500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 527324 12812548 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 52748967 52938074 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 52764298 57923922 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-559K arrays 21546498 chr7 52770352 52770650 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 52875943 52909179 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 52877544 52878464 Gain and loss Pancreatic cancer SNP array 17952125 chr7 52884670 52884770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5289087 5310228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 5289087 5310228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 52899 160848 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 52899 160848 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 52899 166359 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 52899 174346 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 52899 174346 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 52899 176483 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 52899 176483 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 52899 197438 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 52911 160848 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 52911 6230505 Gain Developmental delay affymetrix genechip 500K/SNP 6.33 array 21147756 chr7 52927460 52932452 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 52930599 52932663 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 52930694 52932405 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 5293964 5377822 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 52960284 52975459 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 52960284 52976496 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 5298267 5298372 Gain and loss Pancreatic cancer SNP array 17952125 chr7 53030464 53064530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 53063107 53063206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 53067494 53323620 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 53070843 53072111 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 53070858 53071749 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 53070859 53071749 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 53084916 53085016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 53100000 53800000 Copy number Cognitive impairment - 21505072 chr7 53107233 53259225 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 53110000 53780000 Copy number Cognitive impairment - 21505072 chr7 5312952 5431571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 5312952 5431571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 53135878 53153598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 53207960 53208113 Gain and loss Pancreatic cancer SNP array 17952125 chr7 53207960 53208170 Gain and loss Pancreatic cancer SNP array 17952125 chr7 53213573 53239082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 53234850 53235204 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 53235276 53357363 Loss Normal 244K array 17666407 chr7 53249866 53347121 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 53279248 53279306 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 53290468 53295819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 53332118 53332340 Gain and loss Pancreatic cancer SNP array 17952125 chr7 53369092 53369192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 53397302 53427791 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 5340028 5343473 Gain and loss Pancreatic cancer SNP array 17952125 chr7 53401245 53401402 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 53422087 53454828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 53423096 53433669 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 53426335 53558229 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 53427310 53564246 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 53429031 53564246 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 53433507 53558229 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 53433507 53558229 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 53433507 53571951 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 53433670 53558241 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 53443547 53476410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 53452763 55373088 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 5350529 5477173 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 53525335 53525626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 53525403 53525625 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 53560611 53560711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 53618038 53618156 Gain and loss Pancreatic cancer SNP array 17952125 chr7 53618038 53618189 Gain and loss Pancreatic cancer SNP array 17952125 chr7 53647659 53656839 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 53662243 53664725 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 53670428 53670596 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 53690696 53847118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 53690696 53847118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 53690696 53847118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5373627 5373929 Gain and loss Pancreatic cancer SNP array 17952125 chr7 53749523 53910569 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 5377822 5466519 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 537799 537906 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 53787434 54787434 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 53796000 55553000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr7 53811323 53811511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 53840139 53840239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 53900000 57400000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr7 53900000 57400000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 chr7 53900000 57400000 Amplification Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 chr7 53900000 57400000 Amplification Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 chr7 53900000 57400000 Amplification Intracranial ependymoma matrix-based CGH 16609018 chr7 53900000 57400000 Amplification Lung cancer aCGH 21911935 chr7 53900000 57400000 Amplification Urothelial cell carcinoma FISH 18451213 chr7 53900000 57400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 53900000 57400000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr7 53900000 57400000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 53900000 57400000 Gain Lung cancer Array CGH 17925434 chr7 5394667 5395523 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr7 53952470 53977657 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 54000000 58000000 Amplification Glioma 27K cDNA microarrays 17634744 chr7 54000000 58000000 Amplification Oral squamous cell carcinoma - 19276369 chr7 54000000 58000000 Amplification Oral squamous cell carcinoma Affymetrix 19276369 chr7 54000000 58000000 Amplification Ovine squamous-cell carcinoma MCG Cancer Array-800 and MCG Whole Genome Array-4500 arrays 17599052 chr7 54000000 58000000 Copy number Glioblastoma Array CGH 17090523 chr7 54000000 58000000 Copy number Lung cancer correlation matrix diagonal segmentation method 20031968 chr7 54000000 58000000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr7 54000000 58000000 Gain Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr7 5400108 5794894 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 54027966 55983910 Amplification Glioblastoma multiforme Array CGH 19115005 chr7 54054218 55054218 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 5405809 5419520 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54083299 54083395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 54 100407386 Loss Stenocardia MACArray Karyo 98K BAC-chips 21860640 chr7 54 100407386 Loss Vasospasm MACArray Karyo 98K BAC-chips 21860640 chr7 54145000 55790000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr7 54201794 54201896 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54236410 54237608 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 542408 602431 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54250000 55000000 Gain Breast cancer aCGH 21509527 chr7 54261275 54262224 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5426489 5427403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 54269271 54300200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 5432501 5436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 54325359 54325459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 54334208 54354011 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 54334208 54360982 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 54334250 54354011 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 54334410 54360982 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 54337826 54337886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 5433951 5434023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 54347856 54360969 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 54347856 54360969 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 54348136 54355770 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 5435732 5594533 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5436501 5631500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 54371479 55586009 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 54383513 54383562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 54384357 54394429 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54395079 54395181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 54400634 55400634 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 54454631 54455515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 54462927 54463032 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54462930 54463033 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54488214 54491118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 54557887 54565477 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 54557887 54565477 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 54563981 54564927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 54577512 54606267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 54577512 54606267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 54577635 54587714 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 54594158 54601141 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54613788 54613843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 54635562 55284139 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 54636468 54637033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 54650000 55520000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr7 5465575 5465663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 54656212 54656318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5466519 5469490 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 54670462 55812702 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 5469410 5469477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 54707717 54707803 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54779011 54779428 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54787433 54794433 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 54787438 54794439 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 54787438 54794439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 54787438 54794439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5481955 5523646 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 54828542 55016774 Amplification or deletion Cancer Array CGH 17440070 chr7 54837233 54882151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 54853524 54853624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 54860934 55049239 Gain and loss Pancreatic cancer SNP array 17952125 chr7 54860934 55049239 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr7 54862624 55406733 Amplification Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 chr7 54869406 62940814 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 54880176 56021876 Amplification Breast cancer FISH 17142309 chr7 54887225 54912746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 54898745 54898845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 54899301 55275419 Amplification Cancer Affymetrix 250K Sty array 20164920 chr7 54901002 54901088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5491552 5491657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 54931811 55023607 Amplification Normal Arbitrated Peel-off 21527027 chr7 54931811 55023607 Amplification Normal Standard peel-off 21527027 chr7 54968636 54973371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55007769 55027162 Amplification Cancer GISTIC2.0 21527027 chr7 5501976 5502074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55038001 55623500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 55051585 55078840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 55054218 55242525 Amplification Adenocarcinoma FISH 19001599 chr7 55054218 55242525 Amplification Breast cancer FISH 22132735 chr7 55054218 55242525 Amplification Breast cancer RT-PCR 22132735 chr7 55054218 55242525 Amplification Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 55054218 55242525 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 55054218 55242525 Amplification Lung cancer FISH 18172305 chr7 55054218 55242525 Amplification Non-small cell lung cancer FISH 19001599 chr7 55054218 55242525 Amplification or deletion Breast cancer ddPCR 17661082 chr7 55054218 55242525 Amplification Squamous cell cancer Dual-color FISH 21048039 chr7 55054218 55242525 Amplification Squamous cell cancer FISH 19001599 chr7 55054218 55242525 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr7 55054218 55242525 Copy number Lung cancer - 20668451 chr7 55054218 55242525 Copy number Lung cancer - 20826716 chr7 55054218 55242525 Copy number Non-small cell lung cancer FISH 21400669 chr7 55054218 55242525 Deletion Lung adenocarcinoma Power SYBR Green PCR Master Mix 19826477 chr7 55054218 55242525 Deletion Lung cancer FISH 20877625 chr7 55054218 55242525 Deletion Lung cancer Power SYBR Green PCR Master Mix 19826477 chr7 55054218 55242525 Duplication Non-small cell lung cancer FISH 18612151 chr7 55054218 55242525 Gain Colorectal cancer FISH 17082511 chr7 55054218 55242525 Gain Lung cancer High-resolution array comparative genomic hybridization 21556796 chr7 55054218 55242525 Gain Neuroendocrine carcinoma FISH 20385747 chr7 55054218 55242525 Gain Non-small cell lung cancer FISH 21247966 chr7 55054218 55242525 Gain or loss Breast cancer - 20668451 chr7 55054218 55242525 Gain or loss Cancer - 20668451 chr7 55054218 55242525 Gain or loss Lung cancer - 20668451 chr7 55054218 55242525 Gain or loss Ovarian cancer - 20668451 chr7 55054218 55242525 Gain or loss Pancreas cancer - 20668451 chr7 55054218 55242525 Gain or loss Prostate cancer - 20668451 chr7 55054218 55242525 Increased Chordoma chromogenic in situ hybridization(CISH);Mesenchymal-epithelial transition factor 20617367 chr7 55054218 55242525 Increased Lung cancer fluorescent in situ hybridization 21424799 chr7 55054218 55242525 Increases Gastric cancer Fluorescence in situ hybridization (FISH) and immunohistochemistry 21689422 chr7 55054218 55242525 Insert Glioblastoma multiforme SNP chips 21727940 chr7 55054218 55242525 Microdeletion Non-small cell lung cancer SNaPshot (Applied Biosystems) 21292812 chr7 55054219 55242524 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55054219 55242524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 55054219 55242524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55062157 55062256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 55068020 55068120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 55086724 55275030 Amplification Colorectal cancer qPCR 18855534 chr7 55086724 55275030 Amplificationlication Glioblastoma multiforme Affymetrix SNP array 6.0, Illumina HumanHap550,Agilent CGH array 244A 20824129 chr7 55086724 55275030 Amplification Salivary gland carcinoma Fluorescence in situ hybridisation 22240798 chr7 55086724 55275030 Amplification Testicular germ cell tumor FISH 20608935 chr7 55086724 55275030 Copy number Lung cancer FISH 19547694 chr7 55086724 55275030 Copy number Non-small cell lung cancer FISH 17317677 chr7 55086724 55275030 Copy number Non-small cell lung cancer FISH 18626007 chr7 55086724 55275030 Copy number Non-small cell lung cancer FISH 19095777 chr7 55086724 55275030 Copy number Non-small cell lung cancer FISH 20843314 chr7 55086724 55275030 Copy number Non-small cell lung cancer FISH 21107284 chr7 55086724 55275030 Gain Gastric cancer FISH 22152101 chr7 55086724 55275030 Gain Lung cancer PCR and sequenced 17626639 chr7 55086724 55275030 Gain Oesophago-gastric ulcer FISH 22152101 chr7 55086724 55275031 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr7 55086725 55275030 Deletion Lung adenocarcinoma FISH 20803030 chr7 55086725 55275030 Not increased Small cell neuroendocrine carcinoma FISH 20961443 chr7 55086725 55275030 Not increased Squamous cell cancer FISH 20961443 chr7 55102446 55103351 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 55122276 55122376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 55174941 55186397 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 55184570 55184660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 55192896 55237457 Amplification Normal Arbitrated Peel-off 21527027 chr7 55192896 55257547 Amplification Normal Standard peel-off 21527027 chr7 55207350 55275644 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55214178 55214278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 55237447 55373693 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr7 55252301 55258200 Deletion Glioma mate-paired sequence 20126413 chr7 55254238 55256555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 5527317 5527388 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55284139 55566129 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 55312516 55414356 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5531598 5531690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5533305 5536758 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 5533313 5536758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 5533313 5536758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55377356 55377600 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 55400634 55468929 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 55400635 55468929 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55400635 55468929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 55400635 55468929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55401954 55402030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 55465708 55465778 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55473555 55473935 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55474952 55477839 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55487974 55488083 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55500000 68300000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr7 55504000 55524435 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 55505799 55607511 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 55505801 55607694 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55505801 55607694 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 55505801 55607694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55522977 55529768 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55524435 55560000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 55527880 55527973 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55533687 55533787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 555361 733813 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 555361 733813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55566129 56327502 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 55572233 55593091 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr7 55574046 55574333 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55623501 55630000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 55631270 55631376 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55635446 55676451 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55644378 55645282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 55658993 55659063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55662996 55663096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5566900 5567212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55681259 55681368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55695924 57405095 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr7 55716264 55724488 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55716264 55734341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 55716264 55734341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55721165 55721258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55754540 55782642 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55757645 55760709 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 55772501 55783500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 55783501 56397500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 55793784 55798402 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5580573 5580637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 55806505 55842080 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55812702 56812162 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 55818500 55818841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 55824555 55824661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55828731 55881827 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55828731 55897976 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 55828731 55897976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55852955 55893477 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55893616 55905891 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55897267 55897404 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55902372 55902504 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55906167 55922566 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55922186 55934836 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55922643 55976959 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55922643 55976959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 55922643 55976959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 55929653 56060329 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 55932318 75576605 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr7 55939265 55939625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 55939265 55939628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 55943477 55948396 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55957922 55958216 Gain and loss Pancreatic cancer SNP array 17952125 chr7 55959039 62586975 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 55962446 62610014 Copy number Lung cancer paired-end sequencing 18438408 chr7 55977873 56021053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 55979612 56012619 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 55987069 55991687 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55987105 55990523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 55987105 55990523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5598980 5612811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 5598980 5612811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5598980 5612812 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 55999789 56035365 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 55999790 56035365 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 55999790 56035365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 55999790 56035365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56046237 56151584 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 56046238 56086762 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 56046240 56086762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 56046240 56086762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56054703 56056675 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 56054925 56056526 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 56086871 56099176 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 56086871 56099176 Copy number Gastric cancer Human cDNA microarrays 17229543 chr7 56086872 56099176 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 56086872 56099176 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 56086872 56099176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56090552 56090689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56092054 56092260 Gain Normal 244K array 17666407 chr7 5609404 5613992 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 56095657 56095789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56099411 56115856 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 56099411 56115856 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 56099411 56115856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56115471 56128121 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 56115471 56128121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 56115471 56128121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56136759 56141681 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 56136759 56141681 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 56136762 56141685 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 56136762 56141685 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 56136762 56141685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56146613 56147440 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56149869 56151584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 56149869 56151584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 56149869 56151584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56182131 56182239 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56182136 56182239 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56202593 56213878 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56203605 56212844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56207481 56212846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56208447 56209155 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56212434 56213134 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56212494 56213201 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56212548 56213856 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56213203 56213927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56213226 56214137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56213357 56214114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56213469 56214288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56213521 56216624 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56213721 56236084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56215414 56233721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56220226 56672954 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56243972 56244074 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56244708 56244852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 56244996 56245096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5626204 5787818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 5626204 5787818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56281572 56281890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 56289166 56312199 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 56308149 56309435 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5631501 5956750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56327502 56891482 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 56338125 56339178 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5636033 5660622 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56361154 56482133 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 56375418 56375524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5637996 5815996 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr7 5638062 5641029 Loss Normal 244K array 17666407 chr7 56397501 56414000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56407066 56409428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 56409808 56410760 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56411430 56433549 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56414001 56527000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56419043 56450527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56434292 56479542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56437257 56437356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56437257 56437359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56439651 56440247 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56480988 56528748 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56508034 56553461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56511423 56651425 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 56517892 56550642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56525656 56554684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56527001 56532000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56532001 56574000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56532762 56546269 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56533410 56551904 Amplification Normal Arbitrated Peel-off 21527027 chr7 56533410 56570971 Amplification Normal Standard peel-off 21527027 chr7 56538430 56542366 Loss Normal 244K array 17666407 chr7 5655299 5659935 Loss Normal 244K array 17666407 chr7 56574001 56578000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56578001 56837500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 5658570 5697435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56598200 56598280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 56603093 56604450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56619974 56626008 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 5664020 5664120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 56641495 56661189 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56644677 56661524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56645806 56646499 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56651106 56661944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56651182 56671543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56652001 56661247 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56658571 56661498 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56659672 56680701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 56679031 56698420 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 56689121 56689266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 56711073 56822086 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 56728017 56728081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 56729475 56737441 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 56729523 56737442 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 56729555 56738211 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 56729555 56738211 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 56729607 56736308 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 56729607 56736308 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 56736309 57221738 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 56765147 56765221 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 56812162 57183390 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 56837501 56868000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56839246 56856131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 56839912 56840122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5684625 5684922 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56858913 56859530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 56868001 56911500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56882794 56887516 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56891482 57201671 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 56892646 56898635 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56911501 56939500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 5693762 5699213 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56938948 56939647 Gain and loss Pancreatic cancer SNP array 17952125 chr7 56939501 57065500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 56943574 57189587 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 56998204 57010688 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57011771 57189587 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57045339 57045402 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57047021 57047088 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57047440 57047506 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57049140 57049207 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57049209 57049267 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57049268 57049338 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57051656 57051723 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57052741 57052807 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57052810 57052877 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57055770 57081929 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57064571 57064639 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57064637 57064708 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57064711 57064777 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57065501 57116750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57065814 57065881 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57065891 57065958 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57065961 57066033 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57066066 57066129 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57066131 57066196 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57066192 57066241 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57067805 57067872 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57067874 57067941 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57068594 57068663 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57069290 57189587 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57070295 57070360 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57070702 57070768 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57072439 57072506 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57072508 57072566 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57072567 57072637 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57074938 57075004 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57075980 57080801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 57075980 57080801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57076146 57076212 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57076215 57076282 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57085931 57091937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57105364 57105439 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5711574 5739422 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57153114 57340312 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57175630 57923922 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-571K arrays 21546498 chr7 57183390 57925846 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 57188228 57515876 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 57191270 57211513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57201671 57511860 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 57202860 57247759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57216002 57453047 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 57219415 57275579 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57221726 57275579 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57238624 57238687 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57240306 57240373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57240725 57240791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57242425 57242492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57242494 57242552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57242553 57242623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57244941 57245008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57246026 57246092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57246095 57246162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57249001 57252000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57252001 57257500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57257922 57257993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57257996 57258062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57259099 57259166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57259176 57259243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57259246 57259318 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57259351 57259414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57259477 57259526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57261090 57261157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57261159 57261226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57261879 57261948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57263580 57263645 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57263987 57264053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57265300 57896936 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 57265724 57265791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57265793 57265851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57265852 57265922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57268223 57268289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57268754 57294221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57269431 57269497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57269500 57269567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57270001 57272000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57270036 57291003 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57272001 57277000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57275906 57298453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57276187 57289257 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57277001 57289000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57279201 61681400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57280296 57294986 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57281950 57289803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57285892 57290528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57287768 57289845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57287864 57290602 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57289001 57293000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57293001 57452500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57294882 57296018 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57299193 57466015 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 57303275 57345681 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57323473 57345681 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57323473 57347855 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57346854 57346954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5737516 5738071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 57387792 58047095 LOH Normal High-resolution SNP genotyping 21211785 chr7 5739018 5780076 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57396706 57770231 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 57400000 59100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 57400000 59100000 Gain Schizophrenia Affymetrix 6.0 array 21399695 chr7 57432953 57713474 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 57452501 57457500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57457501 57470000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57470001 57472000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57472001 57489000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57477509 57509961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57489001 57491500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57491501 57501000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57501001 57507000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57507001 57549500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57507475 57507576 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57511860 57934845 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 57513831 57534142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 57549501 57561000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57568874 57589241 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 5757270 5792990 Amplification or deletion Cancer Array CGH 17440070 chr7 57572765 57573103 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 5761446 5794845 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57644001 57645500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57656568 57691107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 57676001 57719500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57698691 57698792 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57701877 57723958 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 57712896 57715336 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 57738665 62148505 Gain Normal 244K array 17666407 chr7 57755269 57755425 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 5777480 5795676 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 57828265 158821424 Gain Wilms tumour 250K Genotyping Arrays 21544195 chr7 57833001 57841000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57841001 57881500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57843985 57927889 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 5785826 5785917 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 5786114 5821915 Gain and loss Pancreatic cancer SNP array 17952125 chr7 57879924 61799127 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 57881501 57886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 5791341 5898394 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 57918137 57931269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 57942251 57996000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 57952346 58019815 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr7 57996001 58006250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 5799875 23191136 Deletion Acute myeloid leukemia - 21251322 chr7 58000000 59900000 Amplification head and neck squamous cell carcinoma CGH 17671120 chr7 58010001 58026000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 58030501 59558250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 5809358 5809602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 5817157 5817257 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5817158 5817257 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5822123 5836706 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5829752 5829883 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5835121 5872026 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5844248 5849249 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5845026 5890264 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 5845026 5895262 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 5848383 5854317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 5860595 5860886 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5870372 5870471 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5877912 5878207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5878703 5920389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 5886955 5892519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5892806 6067844 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 5904867 5932127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 5904867 5932127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5908568 5914567 Loss Normal TaqMan assays 20972442 chr7 59100000 158821424 Copy number Squamous cell cancer Array comparative genomic hybridization 21044232 chr7 59100000 158821424 Deletion Ewing's sarcoma CGH(Reference) 21437220 chr7 59100000 158821424 Duplication Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 chr7 59100000 158821424 Gain Astrocytoma CGH 17387387 chr7 59100000 158821424 Gain Esophageal squamous carcinoma CGH 21637470 chr7 59100000 158821424 Gain Ewing's sarcoma CGH(Reference) 21437220 chr7 59100000 158821424 Gain Glioblastoma multiforme CGH 17387387 chr7 59100000 158821424 Gain Oligodendroglial tumors CGH 17285580 chr7 59100000 158821424 Gain or loss Endometrial cancer CGH 22040021 chr7 59100000 158821424 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 chr7 59100000 158821424 Loss Breast cancer aCGH 21264507 chr7 59100000 158821424 Loss Esophageal squamous carcinoma CGH 21637470 chr7 5924006 5968019 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5932303 5976840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 59439314 59953322 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 594697 1292640 LOH Normal High-resolution SNP genotyping 21211785 chr7 5952172 25017216 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 59558251 61061500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 5956751 5977750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 59600001 66100000 Gain Glioblastoma aCGH 21080181 chr7 5974647 6085515 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5977751 6503500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 5979395 6015263 Gain or loss Breast cancer - 20668451 chr7 5979395 6015263 Gain or loss Cancer - 20668451 chr7 5979395 6015263 Gain or loss Lung cancer - 20668451 chr7 5979395 6015263 Gain or loss Ovarian cancer - 20668451 chr7 5979395 6015263 Gain or loss Pancreas cancer - 20668451 chr7 5979395 6015263 Gain or loss Prostate cancer - 20668451 chr7 5979395 6015263 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 5979396 6015263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 5979396 6015263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 5981609 6248486 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr7 5988084 5988175 Gain and loss Pancreatic cancer SNP array 17952125 chr7 5988085 5988175 Gain and loss Pancreatic cancer SNP array 17952125 chr7 59900000 159138663 Amplification Colorectal cancer GISTIC software 19359472 chr7 59900000 159138663 Amplification Cutaneous malignant melanoma Affymetrix 100K SNP arrays 17690212 chr7 59900000 159138663 Deletion Leukemia References 17361228 chr7 59900000 159138663 Gain Breast cancer Array CGH 16461572 chr7 59900000 159138663 Gain Peripheral t-cell lymphoma Array-based CGH 19118030 chr7 59900000 159138663 LOH Malignant melanoma Affymetrix 100K SNP arrays 17690212 chr7 59900000 61700000 Loss Autism References 18414403 chr7 59900000 61700000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr7 5991106 6036371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 6010440 6010542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6015408 6029990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6015408 6029990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6015408 6029991 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 6023034 6023168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6025510 6025611 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6025511 6025611 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6029986 6065314 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6029986 6065314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 60328 526007 Gain or loss Breast cancer - 20668451 chr7 60328 526007 Gain or loss Cancer - 20668451 chr7 60328 526007 Gain or loss Lung cancer - 20668451 chr7 60328 526007 Gain or loss Ovarian cancer - 20668451 chr7 60328 526007 Gain or loss Pancreas cancer - 20668451 chr7 60328 526007 Gain or loss Prostate cancer - 20668451 chr7 6033545 6057253 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 6033545 6062847 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 6037533 6042543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 60424050 85108679 Deletion Esophageal cancer affymetrix genechip human mapping 267K Nsp arrays 21851588 chr7 6053880 6054171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6053880 6054180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6063657 6063756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6089199 6115298 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 60893982 61087258 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 60893982 61087258 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 60893982 62190934 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 60893982 62271704 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 60893982 62404895 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 61038450 61581014 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 61060840 61484986 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61060840 61642034 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61060840 61647678 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61060840 62032965 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61060840 62067412 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61060840 62160121 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61060840 62251650 LOH Normal High-resolution SNP genotyping 21211785 chr7 61060840 62278406 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61060840 62278406 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61060840 62357123 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61060840 62357123 LOH Normal High-resolution SNP genotyping 21211785 chr7 61060840 62357939 LOH Normal High-resolution SNP genotyping 21211785 chr7 61060840 62359496 LOH Normal High-resolution SNP genotyping 21211785 chr7 61060840 62363323 LOH Normal High-resolution SNP genotyping 21211785 chr7 61060840 62631279 LOH Normal High-resolution SNP genotyping 21211785 chr7 61060840 63080817 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61061501 61082500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61067917 61292763 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 61082501 61089500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61089501 61106000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61095653 61261586 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 61100000 66100000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr7 61100000 66100000 Amplification Normal BAC aCGH 22315515 chr7 61100000 66100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 61100000 66100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 61100000 66100000 Gain Schizophrenia Affymetrix 6.0 array 21399695 chr7 61100000 66100000 Loss Schizophrenia Affymetrix 6.0 array 21399695 chr7 61100000 71800000 Gain Malignant fibrous histiocytomas aCGH 21085701 chr7 61100000 77400000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chr7 61106001 61242500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 6111075 6167720 Gain or loss Breast cancer - 20668451 chr7 6111075 6167720 Gain or loss Cancer - 20668451 chr7 6111075 6167720 Gain or loss Lung cancer - 20668451 chr7 6111075 6167720 Gain or loss Ovarian cancer - 20668451 chr7 6111075 6167720 Gain or loss Pancreas cancer - 20668451 chr7 6111075 6167720 Gain or loss Prostate cancer - 20668451 chr7 6111076 6167717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6111076 6167717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 61121332 61628914 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 611501 888500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61174821 61580348 Copy number Lung cancer paired-end sequencing 18438408 chr7 61242501 61291500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61251884 61278138 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61259323 61525563 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 61259323 61624773 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 61277360 61617328 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61291501 61308000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61308001 61311500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61311501 61376500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61374475 61402309 Gain Normal TaqMan assays 20972442 chr7 61376501 61396000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61398126 61696863 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 61408093 61692188 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 61408455 61889637 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 61411308 62499664 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 61413711 61439893 Gain Normal TaqMan assays 20972442 chr7 61414611 61799709 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 61416501 61440000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 6142283 6161830 Gain and loss Pancreatic cancer SNP array 17952125 chr7 61424568 61428001 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61426725 61434436 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61440001 61470750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61445013 61624773 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 61477137 61488622 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 61482501 61486000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61483741 61687034 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 61484986 62067412 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61484986 62100074 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61484986 62100074 LOH Normal High-resolution SNP genotyping 21211785 chr7 61484986 62110607 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61484986 62213112 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61486427 61495103 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61490330 62060344 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr7 61492714 62251650 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61494859 61500660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 61496501 61535500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61504340 62100074 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61504340 62100074 LOH Normal High-resolution SNP genotyping 21211785 chr7 61512853 61761497 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 61522282 158554645 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 chr7 61530518 62339501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61531891 61532061 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61534066 158624663 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 61536595 61536695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 61540001 61579500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61547528 107220721 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 61579501 61614000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61608481 62270454 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 61608701 61616676 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61610742 61612100 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61612137 62349580 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61612137 62349580 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 61614001 61640500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61614333 62339501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61614333 62349580 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61624596 61794159 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 61624596 61820252 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 61624596 62353514 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 61625218 76005844 Copy number Lung cancer paired-end sequencing 18438408 chr7 61633393 61640227 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61638476 62339501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61638476 62339501 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 61639987 62296157 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61640501 61647500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61642034 62110607 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61647042 61659989 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61647678 62306641 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 61652001 61663500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61662663 62038169 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61663407 62155064 Gain Normal Illumina 300K SNP 19997636 chr7 61663501 61670000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61670001 61671500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61671501 61685750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61677032 62339501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61677032 62339501 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 61677032 62349580 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 6167939 6278800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6167939 6278800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 61679584 74449684 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 61685751 61697250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61686853 62158342 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 61686853 62343839 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 61692182 61794159 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 61697251 61698500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 61700000 67000000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 chr7 61700000 72200000 Gain Prostate cancer Array CGH 16461572 chr7 61700000 77500000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr7 61700000 77500000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 chr7 61700000 77500000 Loss Ewing's sarcoma Array CGH 17952124 chr7 61701497 62339501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61701497 62339501 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 61701497 62349580 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 61740813 62408995 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-563K arrays 21546498 chr7 61749538 61750049 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 61750446 61752935 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr7 61761008 62343839 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 61788997 61789049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 61793761 61889904 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 61793761 62007257 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 61799042 62371184 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 61818533 62357639 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 6187366 6216837 Gain and loss Pancreatic cancer SNP array 17952125 chr7 61915991 61916097 Gain and loss Pancreatic cancer SNP array 17952125 chr7 61917056 61955876 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 61933205 62002627 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 61960303 158588303 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr7 61992101 62202923 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62002615 62306579 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 62002627 62007269 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 62002673 62089940 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 6202883 6202963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 62076716 62149607 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 62080468 62080547 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62098454 66873746 Deletion Acute myeloid leukemia - 21251322 chr7 62107001 62169500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62109276 62109382 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 62120426 62147418 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 62132321 62553525 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 62147787 62147819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 62169501 62172000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62172001 62210500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 6218794 6218896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 62195037 62271252 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr7 62210501 62212000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62215205 62343839 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 6222001 6260825 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62250368 62282759 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62271853 62306799 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62273753 62273832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 62274487 62279785 Loss Normal 244K array 17666407 chr7 62315457 62323585 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 62323573 62839473 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 62323585 62326783 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 62326783 62343851 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 62330501 62332000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62343851 62358421 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 62348730 62359872 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62358421 62371196 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 62359918 62781309 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62371196 62390136 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 62389140 62401869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 62390136 62430236 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 6240413 7240413 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 62413997 62414696 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62429623 62694029 Loss or gain Normal 244K array 17666407 chr7 62430236 62460820 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 62460820 62467318 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 62461126 62467119 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62471393 62737937 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 62477479 62484896 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6249372 6374989 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 62547638 62555459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 62547638 62555459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 62553697 62748289 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 62554997 62588238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62559481 62869670 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 62580474 62866034 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 62591501 62739250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62634579 107618259 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 62647964 62687092 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62648989 62674784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62649011 62657210 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62650366 62679427 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62650399 62694702 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62651152 62679680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62651956 62663862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62654411 62660526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 62659025 62659888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62659528 62671343 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62663206 62690519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 62676548 62677237 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62747241 63893126 LOH Normal High-resolution SNP genotyping 21211785 chr7 6275510 6296940 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62756501 62762750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62762751 62776000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62771486 75338744 Copy number Lung cancer paired-end sequencing 18438408 chr7 62776001 62842500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62813494 62814980 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62835669 62836496 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62839004 62839850 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62842501 62874000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62850 62923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 62855792 62865099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 62855792 62865099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 62863783 62864858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 62874001 62984000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 6288638 6288738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 62930020 63735600 LOH Normal High-resolution SNP genotyping 21211785 chr7 6296162 6298113 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62964486 64864831 LOH Normal High-resolution SNP genotyping 21211785 chr7 62964486 66106593 LOH Normal High-resolution SNP genotyping 21211785 chr7 62973413 62983073 Gain and loss Pancreatic cancer SNP array 17952125 chr7 62982614 63888206 LOH Normal High-resolution SNP genotyping 21211785 chr7 62984001 62990000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 62997501 62999500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63004833 63025072 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63010114 63010180 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63010524 63010588 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63012262 63012332 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63013015 63013077 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63013079 63013148 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63014692 63014756 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63014761 63014822 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63014855 63014926 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63014928 63014996 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63015007 63015073 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63016079 63016146 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63016148 63016218 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63016216 63016281 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63024501 63026000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63026001 63197500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63029099 63029787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 63029099 63029787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63046542 63047021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 63065662 63082855 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 63065662 63105711 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 63086238 63087421 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63103389 63176275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6310645 6349715 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63153646 63171397 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63163680 63422330 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 63173636 63193309 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 63197501 63201000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63203399 63203465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63203809 63203873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63205547 63205617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63206300 63206362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63206364 63206433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63207977 63208041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63208046 63208107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63208140 63208211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63208213 63208281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63208292 63208358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63209364 63209431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63209501 63209566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63211501 63213000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63213001 63280500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63231720 63372222 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 63279523 63280706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63280501 63282500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63282501 63290000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63290001 63291000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63294579 63328253 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 63308557 63962166 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-566K arrays 21546498 chr7 63313961 64864831 LOH Normal High-resolution SNP genotyping 21211785 chr7 63331864 65354352 LOH Normal High-resolution SNP genotyping 21211785 chr7 63338468 63339123 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63346931 63364735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 63346931 63364735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6335565 6355115 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 6335568 6355115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6335568 6355115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63387443 63387596 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 63396930 63500236 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 63424408 63467482 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63470571 63470875 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 63473956 63474932 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63474108 63474208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 63508459 63622160 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 63531505 63533328 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 63541578 63542489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63583704 63615549 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63617696 63660919 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 63617701 63660923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 63617701 63660923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63640689 63641271 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63642906 76078892 Gain Bladder cancer array-CGH 21909424 chr7 63665501 63668000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63667241 63668217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 63667241 63668217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63686415 63774039 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 63712135 63712326 Gain Normal 244K array 17666407 chr7 63718545 66418109 LOH Normal High-resolution SNP genotyping 21211785 chr7 63719445 63737855 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63752062 66106593 LOH Normal High-resolution SNP genotyping 21211785 chr7 63756922 63757882 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63763945 63808836 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr7 63763945 63808836 Amplification Normal BAC aCGH 22315515 chr7 63763946 63808836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 63763946 63808836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63764728 63764786 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 63767551 63768898 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63793056 63794628 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6380650 6410123 Copy number Lung cancer - 20668451 chr7 6380650 6410123 Gain or loss Breast cancer - 20668451 chr7 6380650 6410123 Gain or loss Cancer - 20668451 chr7 6380650 6410123 Gain or loss Lung cancer - 20668451 chr7 6380650 6410123 Gain or loss Ovarian cancer - 20668451 chr7 6380650 6410123 Gain or loss Pancreas cancer - 20668451 chr7 6380650 6410123 Gain or loss Prostate cancer - 20668451 chr7 6380651 6410123 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6380651 6410123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63819888 63820341 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr7 63821553 63833566 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63854158 63854655 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63876121 63876904 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 63882510 63895564 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63892240 63931140 Amplification Normal BAC aCGH 22315515 chr7 63892241 63931140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 63892241 63931140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63895740 63897554 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63898338 66554229 LOH Normal High-resolution SNP genotyping 21211785 chr7 6390324 6401845 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63911084 63911156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 63927732 63927838 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63927733 63927838 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63950207 63951167 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 63950207 63951167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63951101 63957300 Deletion Glioma mate-paired sequence 20126413 chr7 63953243 63955493 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 63960549 64201369 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 63960836 63962183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63962166 64804013 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-562K arrays 21546498 chr7 63966001 63989000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 63970064 63970148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 63970527 63970660 Gain and loss Pancreatic cancer SNP array 17952125 chr7 639710 810040 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 63975066 63975200 Gain and loss Pancreatic cancer SNP array 17952125 chr7 63986341 63987913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 63995424 64730827 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 63995424 64730827 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 64001055 64029390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 64001055 64029390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6401482 6453914 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr7 6403016 6421595 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64045056 64557104 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64045770 64105173 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64050812 64051462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 64054008 64620511 Loss or gain Normal 244K array 17666407 chr7 64072265 64088849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 64072265 64088849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64086366 64086466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 64091014 64804013 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-564K arrays 21546498 chr7 6410321 6773892 Loss Autism FISH 20685689 chr7 64121017 64121123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64134448 64179884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 64150926 64714134 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr7 6415281 6454154 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr7 6415288 6454110 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6415288 6454110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64159633 64173833 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 64163812 64163945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64168351 64168485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64174103 64512781 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 64187507 64205734 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 64194829 64288784 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 64200000 64800000 Copy number Cognitive impairment - 21505072 chr7 64200376 64836492 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 64200376 64836492 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 64203514 64693154 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 64203514 64705947 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 64203514 64705947 LOH Normal High-resolution SNP genotyping 21211785 chr7 64204377 64274741 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 64206276 64274550 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 64220000 64760000 Copy number Cognitive impairment - 21505072 chr7 64231500 64233133 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 64231500 64233133 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 64231500 64300673 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 64231764 64744227 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 64233133 64288745 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 64235781 64235882 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64236462 64236538 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64236465 64236536 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64239055 64298458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 64239055 64298458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64260290 64705947 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 64288745 64580284 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 64296964 64310147 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64321593 64327592 Loss Normal TaqMan assays 20972442 chr7 64328811 64722378 Deletion Cancer ultra-high resolution array CGH 21272361 chr7 64345719 64345819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 64346452 64347998 Duplication Cancer CGH 22183965 chr7 64346452 64347998 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr7 6434808 6435842 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64354006 64359878 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 64354006 64359878 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 6436406 6437153 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64380693 64402430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 64381139 64401521 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 64391679 64391779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 64400272 64401550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 64404751 64425737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 64418168 64418439 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 64424689 64515187 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 64424689 64652755 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 64424689 64730827 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 64429066 64429167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64429723 64429821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64459159 64459244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 64463647 64464522 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64476203 64503432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 64476203 64503432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64490650 64490700 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 64536650 158432707 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr7 645370 687780 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64539287 64706924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64567851 64706924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64567851 64709528 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64567851 64717711 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64573146 66101367 LOH Normal High-resolution SNP genotyping 21211785 chr7 64573146 66109649 LOH Normal High-resolution SNP genotyping 21211785 chr7 64579322 64706540 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 64579322 64707216 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64579322 64717711 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64579322 64725029 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64580284 64605202 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 64588316 64706924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64588316 64717711 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 64612545 64679379 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 64619667 64697987 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64619667 64717711 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64635395 64706924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64657580 64675115 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 64660242 64666770 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64664663 64664796 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64669189 64669323 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6467236 6490374 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 6467238 6490374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6467238 6490374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64691827 64735325 Gain Normal 244K array 17666407 chr7 64693154 64728897 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 64697484 64703608 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 64702315 66087795 LOH Normal High-resolution SNP genotyping 21211785 chr7 64703608 64729059 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 64704356 64704515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 64705947 64831211 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 64711813 64786202 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 6471872 6484225 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 64723809 64723912 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64723810 64723912 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64729059 64744239 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 64732214 64750224 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 64749192 64751532 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6476845 6489783 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64768797 64768903 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64768798 64768903 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64782474 64866967 Gain and loss Pancreatic cancer SNP array 17952125 chr7 64793157 64793257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 64830585 64832435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64853424 64933167 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 64853424 64933167 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 64857948 64858081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64862474 64862608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64864831 64922412 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 64869825 64891346 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6487336 6487436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 648852 649840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 64917094 64917197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64922412 66068037 LOH Normal High-resolution SNP genotyping 21211785 chr7 64942477 64944817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64962082 64962188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 64975759 65060252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 64975759 65060252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6498207 6600621 Deletion Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 chr7 64984964 65002090 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65024009 65062412 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6503501 6647500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 6503719 6519794 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6503930 6557577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65063106 65084681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 65063106 65084681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65063108 65084681 Copy number Autism exome sequencing 22495311 chr7 65114464 65269579 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65127787 65128213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 65173387 65173924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65177501 65198500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 65178207 65195756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 65178207 65195756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6519224 6520090 Loss Normal 244K array 17666407 chr7 65216341 65256986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 65216341 65256986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65217239 65256988 Indels Normal Affymetrix 6.0 array 21223598 chr7 65217239 65256988 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 65217240 65256986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 65217240 65256986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65227139 65229400 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 65253441 65253540 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65286093 65286692 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6528649 7866475 LOH Normal High-resolution SNP genotyping 21211785 chr7 65287126 65288674 Gain Normal 244K array 17666407 chr7 65304325 65304423 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65307693 65462872 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 65307749 65462864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 65307749 65462864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65322983 66168953 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 65332548 65333048 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65343770 65344294 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6536577 6536677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 65398499 65398599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 65414315 65414614 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65414731 65415103 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65425674 65447246 Copy number Chronic myeloid leukemia Real-time quantitative reverse transcription PCR assay 18641042 chr7 65446726 65446825 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65459708 65459828 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65459742 65459831 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65465982 65466499 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65478466 65502830 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 65478479 65502830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 65478479 65502830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6548176 6564472 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65495079 65497539 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 65497610 65497708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65497613 65497708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65515890 65516243 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65525950 65526090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65538095 65549967 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65538978 65609657 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 6557997 6613577 Gain Normal 244K array 17666407 chr7 65605001 65659000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 65607600 65607899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65608016 65608388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65649870 65720596 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6565236 6565313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 65652992 65653116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65659001 65661500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 65659267 65659784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65661501 65917500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 65675806 65694798 Indels Malaria PCR,Delta Delta Ct 21533027 chr7 65675806 65694798 Indels Normal Affymetrix 6.0 array 21223598 chr7 65679305 65710933 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 65699010 65699477 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6570461 6611636 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65731379 65743252 Indels Normal Affymetrix 6.0 array 21223598 chr7 65731379 65913883 Indels Normal Affymetrix 6.0 array 21223598 chr7 65731379 65913883 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 65731380 65743252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 65731380 65743252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65742344 93578688 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 65775720 65790745 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 65800326 65800428 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65814003 65814279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65823718 65824064 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6583263 6583406 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 6583268 6583391 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 6583590 6595530 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6583590 6595530 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65843078 65913881 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 65843078 65913881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65845580 66163594 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 65845580 66303403 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 65851003 65864659 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65864096 65865690 Loss Normal 244K array 17666407 chr7 65864305 65872204 Amplification or deletion Cancer Array CGH 17440070 chr7 65877239 79629882 Deletion Cancer Affymetrix 250K Sty array 20164920 chr7 65889257 65889546 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65896840 65904738 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65905967 66148646 Gain and loss Pancreatic cancer SNP array 17952125 chr7 65917501 65949000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 65938451 65952492 Loss Normal 244K array 17666407 chr7 6596440 6614880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6596440 6614880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 65973863 78862373 Gain Prostate cancer Array CGH 18632612 chr7 65993610 65993713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66017003 66017349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66019361 66037283 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 66023646 66060973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 66023646 66060973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66033626 66041234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 66082542 66082830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66082542 66082831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66090125 66098023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 66090125 66098023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66095737 66399480 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 66099251 66341933 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 66099252 66341931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 66099252 66341931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66100000 158821424 Inversion Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr7 66100000 71800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 66100000 71800000 Copy number Normal - 21701786 chr7 66100000 71800000 Deletion Lung cancer aCGH 21911935 chr7 66100000 71800000 Duplication Normal oligonucleotide-based aCGH 21744490 chr7 66100000 71800000 Gain Barrett's adenocarcinoma FISH 18663352 chr7 6611232 6639070 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6611621 6611711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 66118518 66230195 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 66122694 68165528 LOH Normal High-resolution SNP genotyping 21211785 chr7 66143652 66303403 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 66168953 67240515 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 66188915 66195756 Gain and loss Pancreatic cancer SNP array 17952125 chr7 66201654 66211549 Gain and loss Pancreatic cancer SNP array 17952125 chr7 66206791 66206891 Gain and loss Pancreatic cancer SNP array 17952125 chr7 66206792 66206891 Gain and loss Pancreatic cancer SNP array 17952125 chr7 66211790 66230663 Gain and loss Pancreatic cancer SNP array 17952125 chr7 66247834 66279485 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 66266764 66282667 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 66266764 66282667 Deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 chr7 66266764 66282667 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 66276576 71528398 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 66288148 66293594 Loss Normal 244K array 17666407 chr7 66299585 66403048 Loss Normal 244K array 17666407 chr7 66308697 66308768 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6632788 6633185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 66334921 66336726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 66335018 66336838 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 66389963 66404852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66394857 66404841 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 66400075 66400176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66405094 66422817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 66405094 66422817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6645695 6658665 Gain Normal Quantitative PCR 18989455 chr7 66472243 66492987 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 6647501 6656000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 6647712 6693439 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6648566 6660767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6648566 6660767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66495860 66497040 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 66501982 66502053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6650942 6701729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 6656001 6663000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 66573850 67281794 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 chr7 66599837 66621165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 66629389 66629486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 6663001 6859000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 66674264 67003253 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 66680598 66860844 Copy number Lung cancer - 20668451 chr7 66680598 66860844 Copy number Prostate cancer FISH 20601956 chr7 66680598 66860844 Gain or loss Breast cancer - 20668451 chr7 66680598 66860844 Gain or loss Cancer - 20668451 chr7 66680598 66860844 Gain or loss Lung cancer - 20668451 chr7 66680598 66860844 Gain or loss Ovarian cancer - 20668451 chr7 66680598 66860844 Gain or loss Pancreas cancer - 20668451 chr7 66680598 66860844 Gain or loss Prostate cancer - 20668451 chr7 66680598 66860844 Genomic rearrangement Prostate cancer References 17297502 chr7 6668357 6672701 Gain and loss Pancreatic cancer SNP array 17952125 chr7 66693914 66726821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 66697368 66697583 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 66697493 66697654 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 6672398 6709371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 66758409 66758482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 66769231 66769566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 66780623 70058617 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 6679949 6682513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6679949 6682513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66800898 88353793 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 66821801 66841171 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 66829974 66847961 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 66829974 66878612 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 66863347 66878612 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 6694588 6713091 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 6694589 6713091 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6694589 6713091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 66983274 66990484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 66990501 66993500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 67000000 72200000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr7 67000000 77500000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr7 67007396 67007463 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6705008 10284569 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 67096332 67096432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 671099 756952 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 67117217 67117317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 6716280 6760017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6716280 6760017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6716281 6760017 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 67184501 67186000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 67200681 67200748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6720881 6881083 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67306086 68350057 Deletion Obesity Illumina SNP array 20622171 chr7 6731108 6906515 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67343793 67343893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67348017 67348117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67361883 67361983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67364378 67364667 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 67380745 67380825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67383001 67384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 67407391 67407491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 6760265 6804921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6760265 6804921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 67626558 67656866 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67633585 67633689 Gain and loss Pancreatic cancer SNP array 17952125 chr7 67644154 67656866 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67644614 67656866 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67653366 68172652 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 6765614 6765838 Gain and loss Pancreatic cancer SNP array 17952125 chr7 67673972 67674072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67748602 67748702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67767002 67767134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 67787714 67852698 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67787714 67874062 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67789879 67789979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67808119 67808212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67816495 67852698 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67826862 67826970 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 67826870 67826974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 67857311 67857411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67878237 67912538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 67883971 67884071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67884370 67914079 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 67888283 67888381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67918183 67918280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 67929063 69709885 LOH Normal High-resolution SNP genotyping 21211785 chr7 6796428 6886364 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 6796428 6906527 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 67966348 67998778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 67972017 67972439 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6797461 6921552 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 68034908 68035012 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68034908 68035014 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6805097 6832443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 6805097 6832443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68100007 68100325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 68165302 68165724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68165528 68243880 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 68165528 68243880 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 68197301 68203400 Deletion Glioma mate-paired sequence 20126413 chr7 6820623 6881435 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 6820635 6830608 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 6820635 6830608 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 68228193 68228299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68240261 68240331 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68241016 68241083 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68241394 68241462 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68243280 68243346 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68243348 68243407 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68243425 68243497 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68243499 68243565 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68243575 68243641 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68243880 70054674 LOH Normal High-resolution SNP genotyping 21211785 chr7 68310839 68310940 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6831956 8440623 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr7 68371679 69647064 LOH Normal High-resolution SNP genotyping 21211785 chr7 6838818 7297318 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-560K arrays 21546498 chr7 68391534 68436555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 68400000 72200000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 chr7 6840976 6841911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68417149 68417259 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68417152 68417259 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68433546 68433616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68434301 68434368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68434679 68434747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68436565 68436631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68436633 68436692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68436710 68436782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68436784 68436850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68436860 68436926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68477482 68477582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 68493259 68511411 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 68496501 68497500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 68502850 68502950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 68504124 68504225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68509291 69700633 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68512576 68512670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 68517035 68517135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 68576554 68967283 Duplication Autism quantitative PCR 19404257 chr7 68578403 68578493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 6859001 6866000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 68610432 68610544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68612479 70266865 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 6861693 6866083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 6866001 6930500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 68694001 68695000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 68700001 68703500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 68702573 69164063 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 68702576 69895776 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 68702576 69895776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 68702576 69895776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 68713709 69068502 Deletion Intellectual disability Array CGH 22102821 chr7 68714 1034367 Substitutions and indels small cell lung cancer array-CGH 20016488 chr7 68744315 68744371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 68761801 68952300 Deletion Glioma mate-paired sequence 20126413 chr7 68778489 68813080 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 68794001 68795000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 68800000 69368000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr7 6881601 7058700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 68819732 70430668 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 68820751 68904999 Deletion Dyslexia Array CGH 22102821 chr7 68839812 69037115 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 68857155 69038812 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 68904157 69200499 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 6891166 6892352 Gain and loss Pancreatic cancer SNP array 17952125 chr7 689432 709312 Gain and loss Pancreatic cancer SNP array 17952125 chr7 68968121 68968206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69014001 69015500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 69030501 69031500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 69042736 69657788 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 69071400 69071490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 6915446 6915552 Gain and loss Pancreatic cancer SNP array 17952125 chr7 6915447 6915552 Gain and loss Pancreatic cancer SNP array 17952125 chr7 69155899 69256603 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 69205801 69494500 Deletion Glioma mate-paired sequence 20126413 chr7 69205874 69505337 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 69218189 158821424 Gain Wilms tumour 250K Genotyping Arrays 21544195 chr7 69238075 75266723 Copy number Normal Quantitative Real-Time PCR 17666543 chr7 6930501 6948500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 69320512 69371245 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 69343075 69343174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69345012 69614173 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 69348331 69348405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69370528 69594961 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 69380000 69420000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr7 69380000 69460000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr7 69404770 69404870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69410843 69754537 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 69436701 69497300 Deletion Glioma mate-paired sequence 20126413 chr7 69466245 69466402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 69500000 69620000 Deletion Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr7 69519501 69521000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 69557501 69564000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 69604128 69947822 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 69624365 69726112 Duplication Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr7 69630362 69955721 Gain Autism Oligoarray Agilent 44K/244K, Illumina 370K SNP array 19246517 chr7 69641771 69793101 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 69644187 69645187 Gain Osteosarcoma References 21215367 chr7 69651527 69816088 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 696716 714872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 69688551 80480873 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 69698501 69699500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 69702343 69702407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69780225 69792292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 69785170 69786170 Gain Osteosarcoma References 21215367 chr7 69788009 69788103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69793101 69908608 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 69816088 69861129 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 69830589 69933565 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 6983151 7225353 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 69832589 69841026 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 69834136 69840971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 69839145 69853160 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 69842730 69842777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69850658 99859138 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 69852393 69888417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 69855137 69855237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69862068 69898778 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 69864857 69884200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 69868717 69868805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69874968 69875968 Gain Osteosarcoma References 21215367 chr7 698757 699269 Gain and loss Pancreatic cancer SNP array 17952125 chr7 69876932 70546042 Duplication Dyslexia Array CGH 22102821 chr7 69876978 69877978 Gain Osteosarcoma References 21215367 chr7 69909484 69909584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69918916 69919016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69932704 69932804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69939282 69975878 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr7 69959275 69996263 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 69959275 70008794 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 69991871 69991971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 69991895 69991995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 7001372 7001474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 70042094 70042783 Gain and loss Pancreatic cancer SNP array 17952125 chr7 70042440 70623234 Gain and loss Pancreatic cancer SNP array 17952125 chr7 70054674 70063933 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 70054674 70063933 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 70054898 70066179 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 70058362 70069523 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 70058374 70064077 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 70058374 70066179 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 70058374 70066197 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 70058617 70068228 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 70058617 70068228 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 70058913 70069523 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 70058925 70063775 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 70058925 70064077 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 70058925 70064077 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 70059001 70064000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 70063933 71743524 LOH Normal High-resolution SNP genotyping 21211785 chr7 70064784 70064884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70068228 102440713 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 70070460 70070550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70139017 70139097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70161480 70161580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70190516 70190616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70204705 70204805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70205000 70205324 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 70206731 70206818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70226055 70226155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70229377 70229436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 70235725 70816519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 70235725 70816519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 70236686 70236786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70277957 70964233 LOH Normal High-resolution SNP genotyping 21211785 chr7 70294677 70294772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 7030780 7959116 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 70400299 70400399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 7047129 7057220 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7047129 7057221 Deletion T-cell lymphomas Array-CGH 22341440 chr7 70570131 70597383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 7058701 8602000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 70595061 70595383 Gain and loss Pancreatic cancer SNP array 17952125 chr7 70595145 70595383 Gain and loss Pancreatic cancer SNP array 17952125 chr7 70621453 70621552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70697411 71188439 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7074349 7267141 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 70776354 70776454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70778225 71052137 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-551K arrays 21546498 chr7 70788351 70788668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 70823374 70823492 Gain and loss Pancreatic cancer SNP array 17952125 chr7 70823378 70823491 Gain and loss Pancreatic cancer SNP array 17952125 chr7 70834455 70834537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 70847801 70852700 Deletion Glioma mate-paired sequence 20126413 chr7 70849835 70850890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 70849835 70850892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 70851874 70852104 Gain and loss Pancreatic cancer SNP array 17952125 chr7 70861630 70865660 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 70882412 71549982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 70882412 71549982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 709040 723426 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 70934584 71442166 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 70985565 70985648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 71016659 71016777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 71029067 71029067 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 chr7 71029067 71029067 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr7 7107215 7107315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 710781 767508 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71078615 72791406 LOH Normal High-resolution SNP genotyping 21211785 chr7 7108729 7108837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 71107547 71107648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 71126469 71126569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 71208981 71209329 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr7 71297250 71297368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 71356121 71823024 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 71356121 71823049 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 71371908 71488171 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 71402908 71403034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 71442340 71753395 Loss Normal 244K array 17666407 chr7 71481320 71515693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71484154 71743446 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7153539 7187740 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr7 71596540 71596633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 71599158 71620860 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 71599158 71625587 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 71604464 71604496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 716136 721653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71640441 71823049 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 71640441 72133581 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 71640441 72320549 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 71659827 72133581 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 71677439 71936739 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 71677439 71936739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 71682534 71684330 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 71697418 71731271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71701115 71741525 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71704332 71732887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71711498 71750471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71713672 71729031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71713753 71725777 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71740312 71740412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 71756667 71756956 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71762053 75683468 Gain Normal BAC array 16365383 chr7 71777394 72133581 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 71777394 72320549 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 71779118 71785727 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71798 138342 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 71800000 158821424 Gain Medulloblastoma SNP arrays 21979893 chr7 71800000 77400000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr7 71800000 77400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 71800000 77400000 Copy number Breast cancer SMRT array 16417655 chr7 71800000 77400000 Copy number Normal BAC array CGH platform 21549014 chr7 71800000 77400000 Copy number Williams Syndrome Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 chr7 71800000 77400000 Decrease Rheumatoid arthritis qPCR 21728841 chr7 71800000 77400000 Deletion Congenital abnormalities BAC array CGH platform 21549014 chr7 71800000 77400000 Deletion Developmental delay Array-based comparative genomic hybridization 18414209 chr7 71800000 77400000 Deletion Developmental delay BAC array CGH platform 21549014 chr7 71800000 77400000 Deletion Mental retardation Array-based comparative genomic hybridization 18414209 chr7 71800000 77400000 Deletion Mental retardation BAC array CGH platform 21549014 chr7 71800000 77400000 Deletion or duplication Williams Syndrome high-density microarrays 22241247 chr7 71800000 77400000 Deletion periventricular nodular heterotopia Affymetrix 250k Nsp I array 20648244 chr7 71800000 77400000 Deletion Williams-beuren syndrome - 20926892 chr7 71800000 77400000 Deletion Williams-beuren syndrome - 22226172 chr7 71800000 77400000 Deletion Williams-beuren syndrome PCR 21808859 chr7 71800000 77400000 Deletion Williams-beuren syndrome References 17565757 chr7 71800000 77400000 Deletion Williams-beuren syndrome References 18787571 chr7 71800000 77400000 Deletion Williams-beuren syndrome References 18923513 chr7 71800000 77400000 Deletion Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 71800000 77400000 Deletion Williams Syndrome array-CGH 16199537 chr7 71800000 77400000 Deletion Williams Syndrome FISH 20425783 chr7 71800000 77400000 Deletion Williams Syndrome FISH(References) 16617304 chr7 71800000 77400000 Deletion Williams Syndrome from references 18923514 chr7 71800000 77400000 Deletion Williams Syndrome Qualitative magnetic resonance imaging (MRI) 20206275 chr7 71800000 77400000 Deletion Williams Syndrome ref 20970697 chr7 71800000 77400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 71800000 77400000 Duplication Autism quantitative microsatellite analysis, multiple ligation-dependent probe amplification 21686962 chr7 71800000 77400000 Duplication Autism ref 20970697 chr7 71800000 77400000 Duplication Epilepsy array comparative genomic hybridization (CGH) 22118685 chr7 71800000 77400000 Duplication Epilepsy ref 20970697 chr7 71800000 77400000 Duplication language delay quantitative microsatellite analysis, multiple ligation-dependent probe amplification 21686962 chr7 71800000 77400000 Duplication Mental retardation quantitative microsatellite analysis, multiple ligation-dependent probe amplification 21686962 chr7 71800000 77400000 Duplication Mental retardation References 19951919 chr7 71800000 77400000 Duplication Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr7 71800000 77400000 Duplication Williams-beuren syndrome array-CGH 18337728 chr7 71800000 77400000 Duplication Williams Syndrome from references 18923514 chr7 71800000 77400000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr7 71800000 77400000 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 chr7 71800000 77400000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 chr7 71800000 77400000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr7 71800000 77400000 Gain Prostate cancer Array CGH 16573809 chr7 71800000 77400000 Loss Williams-beuren syndrome ABI Prism 7900HT sequence detection system 16971481 chr7 71800000 77400000 Microdeletion Supravalvular aortic stenosis FISH 19844261 chr7 71800000 77400000 Microdeletion Williams-beuren syndrome Quantitative RT-PCR 19880526 chr7 71800000 77400000 Microdeletion Williams-beuren syndrome References 18452001 chr7 71800000 77400000 Microdeletion Williams Syndrome - 18308711 chr7 71800000 77400000 Microdeletion Williams Syndrome FISH 18924169 chr7 71800000 77400000 Microdeletion Williams Syndrome FISH 19255058 chr7 71800000 77400000 Microdeletion Williams Syndrome fluorescent in-situ hybridization test 17505701 chr7 71800000 77400000 Microdeletion Williams Syndrome fMRI and ERP approach 19176822 chr7 71800000 77400000 Microdeletion Williams Syndrome Magnetic resonance images 21939500 chr7 71800000 77400000 Microdeletion Williams Syndrome References 16760918 chr7 71800000 77400000 Microdeletion Williams Syndrome References 20425784 chr7 71800000 77400000 Microdeletion Williams Syndrome References 22241097 chr7 71800000 77400000 Microduplication Autism Array CGH 17666889 chr7 71800000 77400000 Microduplication speech delay Array CGH 17666889 chr7 71800000 97900000 Loss Metanephric adenoma Oligo aCGH 20802469 chr7 71840284 71862758 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71862137 71862236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 71863574 71869896 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71874667 71884648 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7187594 17555849 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr7 71884661 71884900 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71887076 75407752 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr7 7188770 7250506 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 7188770 7250506 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 71889747 71921089 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71898543 71898642 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71898545 71898641 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71907404 71913517 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 71907593 71914592 Deletion Normal TaqMan assays 20972442 chr7 71908199 71913778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 71911509 74913784 LOH Normal High-resolution SNP genotyping 21211785 chr7 71921333 71926925 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71922030 75326524 Gain Prostate cancer Array CGH 18632612 chr7 71926316 71926415 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71935095 71970052 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71949952 71950241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 71949953 71950241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 71954292 71954391 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71954669 71964419 Gain and loss Pancreatic cancer SNP array 17952125 chr7 71966390 71980843 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr7 71970679 74254837 Deletion or duplication Normal - 21701786 chr7 719708 721317 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 71971255 71977592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 71971255 71977592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 71987872 72059915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 71987872 72059915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7200000 13300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 7200000 13300000 Copy number Breast cancer BAC array 16272173 chr7 7200000 13300000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr7 7200000 13300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 7200000 13300000 Gain Barrett's adenocarcinoma FISH 18663352 chr7 7200000 13300000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 7200000 13300000 Gain Non-small cell lung cancer dChip 21829676 chr7 7200000 19500000 Amplification Biliary cancer Array CGH 19435499 chr7 7200000 19500000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 chr7 7200000 19500000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr7 72000962 76605168 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 72001793 72002069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72035816 72259198 Gain Anaplastic thyroid cancer 33K microarrays 18753363 chr7 72044246 72370757 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 72046778 72062076 Gain Normal BAC array 16365383 chr7 72048751 72491500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 72056771 72063222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72056771 72063222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72067952 72077933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72067952 72077933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72076586 72081568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72076586 72081568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72078150 72081173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72079332 72094630 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72083031 74857737 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr7 72089609 74747885 Gain aortic dissecting aneurysms Array-CGH 22263138 chr7 72091826 72091927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72101955 72103442 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72103590 72230774 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 72106483 72114377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72107244 72138797 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72114615 72152902 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 72119601 72119702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72128196 72138245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72145065 74706723 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 chr7 72147577 72147678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72147954 72157704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72156442 72164511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72161878 72167474 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72171186 72186736 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72187014 72217283 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72197748 72197854 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72200000 77500000 Copy number Chronic granulomatous disease references 17576883 chr7 72200000 77500000 Deletion Epilepsy BCM MGL array CGH 21109226 chr7 72200000 77500000 Deletion Intellectual disability BCM MGL array CGH 21109226 chr7 72200000 77500000 Deletion Neurodevelopmental disorder References 17015230 chr7 72200000 77500000 Deletion Williams-beuren syndrome ABI PRISM 3100 18292220 chr7 72200000 77500000 Deletion Williams-beuren syndrome Affymetrix 250K oligonucleotide StyI arrays 18787571 chr7 72200000 77500000 Deletion Williams-beuren syndrome Affymetrix GeneChip Human Mapping NspI Array 18553513 chr7 72200000 77500000 Deletion Williams-beuren syndrome references 17597781 chr7 72200000 77500000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr7 72200000 77500000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 chr7 72200000 77500000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chr7 72200000 77500000 Gain Prostate cancer Array CGH 16573809 chr7 72200000 77500000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr7 72200000 77500000 Loss Pilocytic astrocytoma Affymetrix GeneChip HG_U133A 18670637 chr7 72200000 77500000 Loss Williams-beuren syndrome Spectral Chip 2600 whole-genome bacterial artificial chromosome (BAC) array 16971481 chr7 72200000 86400000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr7 72200171 73734580 Both Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 72200986 74708138 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr7 72262771 72262870 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72262773 72262869 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7227175 7227270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 72272000 72272068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 72272617 72287914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72292764 72295100 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72294838 72332082 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72294838 72332082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72299384 72381266 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72300576 72486542 Duplication Intellectual disability Array CGH 22102821 chr7 72345440 72348855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72355163 72360759 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72355163 72360759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72356188 75985576 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr7 72364471 72380021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72364471 72380021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72380236 72410577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72380236 72410577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72391033 72391139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72395337 72416675 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72400365 73771865 Gain Developmental delay affymetrix genechip 500K/SNP 6.34 array 21147756 chr7 7240414 7250505 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 7240414 7250505 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72428653 72437623 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7244092 7348648 Deletion T-cell lymphomas Array-CGH 22341440 chr7 72452175 72483521 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72456054 72456155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72467403 72970254 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 72486044 72488386 Deletion Mental retardation MLPA 22283845 chr7 72486044 72488386 Gain or loss Breast cancer - 20668451 chr7 72486044 72488386 Gain or loss Cancer - 20668451 chr7 72486044 72488386 Gain or loss Lung cancer - 20668451 chr7 72486044 72488386 Gain or loss Ovarian cancer - 20668451 chr7 72486044 72488386 Gain or loss Pancreas cancer - 20668451 chr7 72486044 72488386 Gain or loss Prostate cancer - 20668451 chr7 72486045 72488386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72486045 72488386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72491501 72497500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 72492676 72574544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72492676 72574544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72496846 72625290 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 72526825 72531090 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72534486 72571966 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 72541724 72542404 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72542549 72557192 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72558192 72578639 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72573501 72575000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 72575001 72622500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 72588621 72609960 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 72588622 72609960 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72588622 72609960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72591550 72591839 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72595078 72597835 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7261140 7292457 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 72615501 72646555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 72621215 72630949 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72621215 72630949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72622501 73017000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 72628368 72629030 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72645460 72676806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72645460 72676806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72686725 72691665 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72693575 72701516 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72720109 72724376 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 72720110 72724375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72720110 72724375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72720140 72724871 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72734537 72735719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72735834 72750477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72735834 72750477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72751472 72771925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72751472 72771925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72751475 72771924 Deletion Mental retardation MLPA 22283845 chr7 72766323 72766423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 72773884 72802999 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 72784835 72785124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72787334 72788266 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 72788363 72791120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72788363 72791120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 728178 32939346 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 72821262 72822536 Microdeletion Idiopathic infantile hypercalcaemia Affymetrix GeneChip 250k(NspI) SNP array platform 20466674 chr7 72821263 72822536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72821263 72822536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7282563 7282663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 72828133 72828484 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 72842043 72925535 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 72876647 72876647 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 chr7 72876647 72876647 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr7 72881478 72882364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72883128 72884951 Microdeletion Idiopathic infantile hypercalcaemia Affymetrix GeneChip 250k(NspI) SNP array platform 20466674 chr7 72883129 72884950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72883129 72884950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72886862 72894801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72886862 72894801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72887169 72928657 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72900000 158821424 Deletion abortions and stillbirths array CGH 19751515 chr7 72900000 158821424 Loss Acute lymphoblastic leukemia oligo HemeScan analysis 21980252 chr7 72913425 72918159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 72913425 72918159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 72942807 72981505 Gain and loss Pancreatic cancer SNP array 17952125 chr7 72978449 73056498 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 7299664 7300036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7300000 13800000 Gain Medulloblastoma cDNA microarrays 17653508 chr7 7300000 16500000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr7 7300000 20900000 Gain Prostate cancer Affymetrix 250K SNP array 19242612 chr7 7300000 20900000 Loss Autism References 18414403 chr7 7300000 20900000 Loss Basal cell lymphoma Array CGH 16317097 chr7 7300000 20900000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 chr7 7300000 25500000 Gain Prostate cancer Array CGH 16573809 chr7 7300000 43300000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr7 7300000 58000000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr7 73002422 73002469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 73012687 73077863 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 73017001 73150000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 73033340 73056073 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73068926 73088808 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73080362 73122172 Copy number Williams Syndrome MLPA 22283845 chr7 73080363 73122173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73080363 73122173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73086472 73086572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 73090485 73113389 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73111870 73111969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 73136091 73174790 Copy number Williams Syndrome MLPA 22283845 chr7 73136092 73174790 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73136092 73174790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73141429 73355380 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 73148456 73264915 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73150001 73174000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 73183327 73184600 Loss Breast cancer Qiagen RNeasy Mini Kit 21633010 chr7 73187716 73188924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 73226625 73249358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73226625 73249358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73228842 73243280 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 7323846 20541090 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr7 73242805 73242900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 73243464 73243560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73245192 73247014 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 73257501 73271500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 73259240 73302051 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 73261662 73282099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73261662 73282099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73271501 73277500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 73277501 73659500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 73283770 73306674 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73283770 73306674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 732863 792642 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 732864 795716 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 732864 795716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73295832 73341361 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr7 73300084 73306278 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 73312771 73461553 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73341739 73458196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73341739 73458196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73341740 73458209 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr7 73341740 73458209 Deletion Mental retardation MLPA 22283845 chr7 73346409 73346521 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73346428 73346521 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73391272 73393884 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73439084 74608092 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 73439084 74608092 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 73453619 73460322 Gain Normal 244K array 17666407 chr7 73455753 73455865 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73455780 73455869 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73465001 73471100 Deletion Glioma mate-paired sequence 20126413 chr7 73466040 73469293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 7349490 7349580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 73506056 73654846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73506056 73654846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73516681 73619673 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73559909 158605053 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr7 73572319 73607753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 73582532 75712811 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 73591606 74061552 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 73622573 73679914 Gain Normal BAC array 16365383 chr7 73632960 73648308 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7364031 7542009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73643038 73697356 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 73655135 73712492 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7369540 7369667 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 73709966 73812956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73709966 73812956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73716060 73751326 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73718985 73733868 Gain Normal BAC array 16365383 chr7 73731966 73732018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 73751073 73810965 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73756587 73756682 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73756587 73756686 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73765241 73772908 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7379864 7420091 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7379864 7420092 Deletion T-cell lymphomas Array-CGH 22341440 chr7 73813001 73869500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 73826244 73841595 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 73826245 73841594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 738411 738503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 73848419 73905777 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr7 73848420 73905777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73866773 73883442 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73868900 74608092 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 73869501 74210000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 73885383 73890271 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73885877 73934288 Amplification T-cell lymphomas Array-CGH 22341440 chr7 73899690 73903311 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73900944 73934288 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73936201 73944663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73936746 73939198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73944358 73960105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 73944358 73960105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73953034 74010273 Gain and loss Pancreatic cancer SNP array 17952125 chr7 73958342 73969099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 73962893 73977192 Gain Normal BAC array 16365383 chr7 73984535 73999836 Gain Normal BAC array 16365383 chr7 74017019 74076923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74017098 74032398 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7406314 7406414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 74080219 74080644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74094218 74628045 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr7 74094218 74628045 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 74094221 74127635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74094221 74127635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74146283 74203558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74146283 74203558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74147579 74157216 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74157500 74157599 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74157504 74157599 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74210001 74887500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 74210381 74225784 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74210381 74225784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74334002 74342052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74334002 74342052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74340864 74352585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74350783 74350884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74410376 74608092 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 74410376 74608092 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 74410376 74952654 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 74410376 76494030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 74432405 74436017 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74445438 74450327 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7445061 7445161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 74452268 74511992 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7449815 7531478 Deletion T-cell lymphomas Array-CGH 22341440 chr7 7449817 7531479 Gain and loss Pancreatic cancer SNP array 17952125 chr7 745210 745346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 74561769 74571496 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74571774 74571873 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74571778 74571873 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74589866 74599521 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74599799 74599898 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74599803 74599898 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74617885 74632913 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74627779 74627878 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74627783 74627878 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74633106 74664452 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7463560 7463659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 74641636 74642061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74645565 74705533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74655566 74655665 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74655567 74655663 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74665881 74669359 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74669554 74679539 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74680375 74927937 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 74680375 74933691 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 74680375 74934311 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 74680375 74936854 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 74684284 74690530 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74690717 74716644 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7470371 7470451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 74705985 74764828 Gain aortic dissecting aneurysms Array-CGH 22263138 chr7 74705985 74764828 Gain Stenocardia MACArray Karyo 37K BAC-chips 21860640 chr7 74705985 74764828 Gain Vasospasm MACArray Karyo 37K BAC-chips 21860640 chr7 74750389 74756316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74752699 74766859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74765057 74765158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74769086 74775912 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74774469 74784339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74774469 74784339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74780722 74794884 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74780722 74794884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74781808 74802032 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74787001 74787101 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74787002 74787101 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74790220 86425200 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 74793082 74793183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74804292 74812542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74808060 75012930 Amplification T-cell lymphomas Array-CGH 22341440 chr7 74808060 75012930 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74811170 74826701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74821062 74821163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74826391 74834926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74826391 74834926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74842427 75119948 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 74848851 74848952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74859596 74862622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7486243 7692089 Gain and loss Pancreatic cancer SNP array 17952125 chr7 74862839 74872824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74862839 74872824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74877582 74884001 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74877582 74884001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74884001 74951533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74884001 74951533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74887501 75446500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 74913784 74949022 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 74949022 75934144 LOH Normal High-resolution SNP genotyping 21211785 chr7 74953470 74982353 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr7 74962235 74969197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 74962235 74969197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74975006 74995330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74978268 74980348 Amplification or deletion Cancer Array CGH 17440070 chr7 74980285 74980386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 74989544 75807629 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr7 74998062 75047695 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 75001344 75206215 Gain or loss Breast cancer - 20668451 chr7 75001344 75206215 Gain or loss Cancer - 20668451 chr7 75001344 75206215 Gain or loss Lung cancer - 20668451 chr7 75001344 75206215 Gain or loss Ovarian cancer - 20668451 chr7 75001344 75206215 Gain or loss Pancreas cancer - 20668451 chr7 75001344 75206215 Gain or loss Prostate cancer - 20668451 chr7 75001344 75206215 Translate Chronic myelomonocytic leukemia Affymetrix Genome-wide Human SNP Array 6.0 20824076 chr7 75001345 75206215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75001345 75206215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75033084 75035018 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 75043503 75063865 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75047695 75053085 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 75053085 75192118 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 75085765 75087684 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75085765 75087684 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7508835 7509134 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 75131214 75131320 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 75151120 75151178 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 75152917 75162890 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75152917 75166841 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75189124 75260823 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75200714 75206216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75202175 75373301 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 75208500 75389796 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75208500 75447331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75208500 76297339 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75208500 76439826 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75208500 76494030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75217751 75217885 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75217752 75217885 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75227946 75260824 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75236778 75257000 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75236778 75257000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75260953 75268628 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75260959 75268604 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75270307 75321972 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75270307 75321972 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75279050 75280969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75279050 75280969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 753000 10353000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr7 75318405 75447331 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75318405 76297339 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75318405 76297339 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75318405 76360206 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75318405 76439826 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75318405 76439826 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75318405 76494030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75322044 75340579 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75322044 75340582 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75324884 75330109 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75346252 75356180 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 75346253 75356180 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75346253 75356180 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75355228 76576431 Copy number Lung cancer paired-end sequencing 18438408 chr7 75357472 75388796 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 75361414 75361516 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75370880 75371153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75382411 75454109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75382411 75454109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75386879 75387404 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75411036 75411170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75446501 75462500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 75454238 75461913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75454238 75461913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75462501 75539000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 75463592 75515257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75463592 75515257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75501910 75506230 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 75502567 75505743 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 75505947 75506592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 75506935 75506993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 75509036 75555456 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75515328 75533866 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 75515329 75533864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75515329 75533864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75539001 75542500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 7554977 7555439 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75554699 75554801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75556615 75561254 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75568140 75578482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 75576574 75578263 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75576574 75578263 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7557702 7557791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 75580164 75580692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75580164 75580692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7559759 7559891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 75600768 75632967 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75600768 75632967 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75630501 75959000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 75635071 75636069 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75654171 76266543 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75654171 76297339 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75654171 76360206 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75654171 76439826 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75663297 75683657 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75663297 75683663 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75669152 75754539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75669152 75754539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75671519 75716035 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75671519 75716039 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75703174 76340227 LOH Normal High-resolution SNP genotyping 21211785 chr7 75707021 75789368 Gain Normal 244K array 17666407 chr7 7573031 7613628 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 7573031 7613628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7573140 7613635 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 75735669 75779956 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75735669 75779959 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75740186 76266543 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75740186 76297339 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75744136 75745083 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75769858 75771546 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 chr7 75769858 75771546 Gain or loss Breast cancer - 20668451 chr7 75769858 75771546 Gain or loss Cancer - 20668451 chr7 75769858 75771546 Gain or loss Lung cancer - 20668451 chr7 75769858 75771546 Gain or loss Ovarian cancer - 20668451 chr7 75769858 75771546 Gain or loss Pancreas cancer - 20668451 chr7 75769858 75771546 Gain or loss Prostate cancer - 20668451 chr7 75769859 75771548 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75769859 75771548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75777531 75777611 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 7577811 7577911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 75778414 75827961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 75784396 75801851 Amplification T-cell lymphomas Array-CGH 22341440 chr7 75784621 75789219 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75787249 75827010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 75788386 75834984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 75788881 75823184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 75789714 75792267 Loss or gain Normal 244K array 17666407 chr7 75794051 75826252 Gain or loss Breast cancer - 20668451 chr7 75794051 75826252 Gain or loss Cancer - 20668451 chr7 75794051 75826252 Gain or loss Lung cancer - 20668451 chr7 75794051 75826252 Gain or loss Ovarian cancer - 20668451 chr7 75794051 75826252 Gain or loss Pancreas cancer - 20668451 chr7 75794051 75826252 Gain or loss Prostate cancer - 20668451 chr7 75794053 75826252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75794053 75826252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75795904 75798668 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75797573 75797672 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75797573 75797673 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75807662 75814354 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75815442 75815542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 75828383 75829696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75856582 75876948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75856582 75876948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75864777 75909320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75864777 75909320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75883956 75901214 Gain and loss Pancreatic cancer SNP array 17952125 chr7 75889876 75889965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 75898835 75982664 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr7 75904125 76395148 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr7 75928907 76491012 Gain or loss Breast cancer - 20668451 chr7 75928907 76491012 Gain or loss Cancer - 20668451 chr7 75928907 76491012 Gain or loss Lung cancer - 20668451 chr7 75928907 76491012 Gain or loss Ovarian cancer - 20668451 chr7 75928907 76491012 Gain or loss Pancreas cancer - 20668451 chr7 75928907 76491012 Gain or loss Prostate cancer - 20668451 chr7 75928954 75973241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75928954 75973241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75937415 75938311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75941806 75941891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 75941942 76446009 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 75959001 75970500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 75970501 75977500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 75973654 76445231 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr7 75973654 76445231 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 75977501 76010000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 75977680 75995135 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 75977681 75982709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 75977681 75982709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 75981561 76395148 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 75981561 76445231 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 75982794 75988969 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 75982829 75985605 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 75985157 76603404 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 75996199 76249021 Loss or gain Normal 244K array 17666407 chr7 75996720 76439826 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 75998944 76619393 Deletion Nasopharyngeal cancer Partek Segmentation 20548289 chr7 760000 2990000 Gain Breast cancer aCGH 21509527 chr7 76000934 76006079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76010001 76017500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 76016614 76018755 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76017638 76259391 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 76017650 76060035 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 76033480 76033592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 76066596 76090260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 76070001 76079750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 76077238 76094556 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 76077243 76094556 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 76077243 76094556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76079751 76084500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 76084501 76110500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 76086676 76572266 Copy number Lung cancer paired-end sequencing 18438408 chr7 76089840 76104402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 76108000 158812000 Gain or loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr7 76120633 76222734 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr7 76120645 76148596 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 76121488 76268038 Gain Normal 244K array 17666407 chr7 76145697 76165823 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 76163693 76412137 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 76164755 76164907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76168057 76494030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 76190199 76494030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 7621327 7807665 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 76242235 76243191 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76257377 76494030 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 76268786 76445231 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 76270246 76395148 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 76276146 76289764 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76276917 76327784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 76287551 76287646 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76287551 76287650 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76291947 76357076 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 76296470 76333322 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76315615 76315710 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76315615 76315714 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76323973 76445231 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 76357853 76395913 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76389367 76390163 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76396585 76569178 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76397789 76426065 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr7 76412137 76439521 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 7642874 7724763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 7642874 7724763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7643099 7724763 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 7643099 7724763 Copy number Gastric cancer Human cDNA microarrays 17229543 chr7 7643099 7724763 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 7643100 7724763 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr7 76431501 76466500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 76435514 76436410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76448074 76491012 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 76466501 76474500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 76469431 76483049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 76469431 76483049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76470083 76473789 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76480836 76480937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76489571 76499610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 76489571 76499610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76508900 76509001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76520018 76525130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 76520018 76525130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76540199 76546088 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 76540858 76681621 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 76540858 76681621 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 76551138 76589380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76569536 79311795 LOH Normal High-resolution SNP genotyping 21211785 chr7 76582652 76583448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76584727 76601452 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76589869 76762457 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr7 76589870 76762457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 76589870 76762457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76603503 76680077 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76607603 76627034 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 76631626 110804908 Copy number Lung cancer paired-end sequencing 18438408 chr7 76636841 142130276 Copy number Lung cancer paired-end sequencing 18438408 chr7 76642309 76643793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 76660624 76667086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 76660624 76667086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76691729 76691822 Copy number Normal Paralogue Ratio Test systems 17175532 chr7 76697653 76697756 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76708479 76708732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 76725125 76765947 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 76756272 76756358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 76778007 76883653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 76778007 76883653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76811066 76914039 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76816843 76818752 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 76890938 76891041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 76915712 76915812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 76917749 76917804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 76923505 76923605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 76942100 77505244 LOH Normal High-resolution SNP genotyping 21211785 chr7 76943751 76943851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 76970411 77053650 Gain and loss Pancreatic cancer SNP array 17952125 chr7 76980436 76980714 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 77004351 77107324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 77004351 77107324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 77004708 77106533 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 77004708 77106533 Truncation Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 7702962 7703062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 77067697 77072398 Gain and loss Pancreatic cancer SNP array 17952125 chr7 77072781 77231192 Gain and loss Pancreatic cancer SNP array 17952125 chr7 77074435 77078205 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr7 77101944 77102044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 77114710 77162195 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 77121599 77121691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 77163678 77246421 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 77163679 77247056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 77163679 77247056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 77169848 77169958 Gain and loss Pancreatic cancer SNP array 17952125 chr7 77169848 77169959 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7719387 7719480 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7719390 7719495 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7722353 7722716 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7723580 7736728 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 7725084 7996041 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 77260982 77265683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 77260982 77265683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 77266058 77424477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 77266058 77424477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 77281244 79352038 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 77291049 78727287 Gain and loss Pancreatic cancer SNP array 17952125 chr7 77363133 77363245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7738559 7741746 Loss Normal 244K array 17666407 chr7 77400000 126900000 Loss Metanephric adenoma Oligo aCGH 20802469 chr7 77400000 86200000 Deletion Williams-beuren syndrome Real-Time Quantitative PCR 16826523 chr7 77400000 86200000 Gain Glioblastoma multiforme Oncochip v2.0 cDNA microarrays 17002787 chr7 77400000 86200000 Gain Multiple myeloma CGH, FISH 16461302 chr7 77400000 97900000 Gain Glioblastoma multiforme aCGH 21080181 chr7 77406971 78077684 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 77464950 77498756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 7748247 7748691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 77484309 78920826 Copy number Normal Illumina Human610-Quad BeadChip 21660214 chr7 77484309 78920826 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr7 77484309 78920826 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 77484309 78920826 Gain or loss Breast cancer - 20668451 chr7 77484309 78920826 Gain or loss Cancer - 20668451 chr7 77484309 78920826 Gain or loss Lung cancer - 20668451 chr7 77484309 78920826 Gain or loss Ovarian cancer - 20668451 chr7 77484309 78920826 Gain or loss Pancreas cancer - 20668451 chr7 77484309 78920826 Gain or loss Prostate cancer - 20668451 chr7 77484310 78920572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 77484310 78920572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 77493527 77493627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 77500000 103800000 Gain Prostate cancer Array CGH 16461572 chr7 77500000 132600000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr7 77500000 86400000 Gain and amplification Multiple myeloma Array CGH 16616336 chr7 77500000 86400000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chr7 77500000 86400000 Gain Wilms tumour Array CGH 19318497 chr7 77500000 98000000 Amplification Hepatocellular carcinoma Array CGH 16750200 chr7 77500000 98000000 Amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 chr7 77500000 98000000 Copy number Schizophrenia Mapping 250K Nsp Assay kit and the Mapping 250K Sty Assay kit 17879154 chr7 77500000 98000000 Gain Prostate cancer Array CGH 16573809 chr7 77505801 77505892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 77553080 77553147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 77553694 77553755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 77564181 78169738 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 77577601 77878700 Deletion Glioma mate-paired sequence 20126413 chr7 7760184 7761472 Loss Normal 244K array 17666407 chr7 77668167 77765386 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr7 77668849 78013572 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 77710997 77711450 Loss Normal 244K array 17666407 chr7 7772806 7772900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 77737048 77737148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 77742674 78333273 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 77749883 78177678 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 77754974 78400410 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 7778517 7885379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 7778517 7885379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 77797573 77797896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 7781663 7900208 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7781663 7901950 Deletion T-cell lymphomas Array-CGH 22341440 chr7 77866971 77867071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 779043 788411 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7793185 7795103 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78011640 78011740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78027615 78027684 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78043785 78043863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 78049506 78049606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78064220 78064320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78108695 78108795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78135078 78135178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78153351 79158672 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 78158784 78374143 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 78191799 78191899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78195777 78196116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 78220900 78220969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7824511 7826948 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 78246495 97499079 Duplication Autism Illumina HumanHap555 BeadChip 20858243 chr7 7826866 7833111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 78269564 78269664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78282763 78314890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 78297144 78297840 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78304207 78304307 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78317957 78325331 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 78340999 78341505 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78342055 78416699 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 78344758 78345038 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78352512 78487447 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 78362069 78362540 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78378188 79973591 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 78420997 78451462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 78424807 78500367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 78497492 78497597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 78501355 83238456 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr7 78518662 158815293 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 78523601 78769900 Deletion Glioma mate-paired sequence 20126413 chr7 78588457 78589317 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78616166 78616249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 7861709 7861809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78617236 78617339 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78620074 78620174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78641849 78691996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 78683861 78713496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 78710113 78710213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78719101 78793900 Deletion Glioma mate-paired sequence 20126413 chr7 78799401 78805100 Deletion Glioma mate-paired sequence 20126413 chr7 78800542 78800642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78810025 78810091 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78810518 78810624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 78820581 78820652 Gain and loss Pancreatic cancer SNP array 17952125 chr7 788263 789286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 78890901 78891001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78893751 78893831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 78906115 79072297 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 78928077 78928183 Gain and loss Pancreatic cancer SNP array 17952125 chr7 78928078 78928165 Gain and loss Pancreatic cancer SNP array 17952125 chr7 79003254 79003563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 79048781 79048881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 79070148 79070233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 79082076 79082169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 79098283 79147106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 79115401 79128209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 79121361 79121479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7912675 7912780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 7915458 7916372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 79186071 79186175 Gain and loss Pancreatic cancer SNP array 17952125 chr7 79200978 79201078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 79247998 79248088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 7926179 8075397 Deletion T-cell lymphomas Array-CGH 22341440 chr7 7926179 8075425 Gain and loss Pancreatic cancer SNP array 17952125 chr7 79309554 79319610 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 79311527 79587948 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 79369697 86867423 LOH Normal High-resolution SNP genotyping 21211785 chr7 79372936 79405348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 79379356 79379460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 79408791 79493370 Gain and loss Pancreatic cancer SNP array 17952125 chr7 79519893 79520192 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7953366 7953425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 79580013 79580344 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 7959116 20682780 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr7 79592220 79592463 Gain and loss Pancreatic cancer SNP array 17952125 chr7 79602076 79686661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 79602076 79686661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 796076 802517 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7964390 8301108 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 79713178 79713474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 79713178 79713477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 79732430 80107021 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 79732638 79785896 Gain and loss Pancreatic cancer SNP array 17952125 chr7 7974948 8095232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 7974948 8095232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 79785505 79785748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 79854022 79857526 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 7986468 7988384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 79876174 79950974 Gain and loss Pancreatic cancer SNP array 17952125 chr7 79898106 80389174 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr7 79925923 79979178 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 79925923 79979178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 79925923 79979178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 79931055 79931141 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 79964556 79964656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 79995589 79995732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 79997070 79997165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80000000 82000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr7 8000000 14000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 chr7 80016506 80193318 Gain and loss Pancreatic cancer SNP array 17952125 chr7 80022585 80022675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80023709 80023809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80069459 80144259 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 80069459 80144259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 80069459 80144259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 8008422 8128709 Amplification Prostate cancer aCGH 22341455 chr7 8008914 8078539 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 80100937 80118802 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 80209378 80209453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80209460 80447883 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 80209460 82307542 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 80209791 80386603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 80209791 80386603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 80212836 80212936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80245929 80290578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 80252572 80393232 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 80280286 80280373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80316526 80316710 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 80405958 80483968 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr7 80423021 80423168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80423160 80423369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80440197 80440804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 80484196 81400960 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr7 80505368 82035390 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 80507442 80516625 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 80586812 80586901 Gain and loss Pancreatic cancer SNP array 17952125 chr7 80607568 80607798 Gain and loss Pancreatic cancer SNP array 17952125 chr7 80639626 80639961 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 80693937 80693992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8070422 8095323 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 80780097 80780186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 80800047 80800967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 80800853 80801083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 80832297 80832506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 808799 808883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 80911660 80956283 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 80976096 81044003 Gain and loss Pancreatic cancer SNP array 17952125 chr7 809884 951134 Gain and loss Pancreatic cancer SNP array 17952125 chr7 81000000 85000000 Gain Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 chr7 81021736 96580930 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr7 81053079 81083007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 81169274 81237388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 81169274 81237388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 8119339 8268710 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 8119339 8268767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 8119339 8268767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 81196274 81196547 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 81224069 81717456 Gain and loss Pancreatic cancer SNP array 17952125 chr7 81277501 81282300 Deletion Glioma mate-paired sequence 20126413 chr7 81331444 81399452 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 81363861 81906266 Amplification Breast cancer FISH 17142309 chr7 81365954 81366054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 81369345 81369445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 81401256 81683693 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr7 81417353 81910967 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 81417354 81910967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 81417354 81910967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 81421372 81453930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 8144894 8497305 Duplication Normal Illumina Human 1Mv1_C BeadChip/1M-Duo V10 BeadChip 22016809 chr7 81456929 81494501 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 81459627 81494501 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 81468083 81468212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8152813 8302184 Amplification Prostate cancer aCGH 22341455 chr7 81563704 81609096 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 81566664 81567000 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 8158699 8158747 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chr7 8158758 8159081 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 81744158 81744236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 81757329 81757414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 81772270 81772364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 81789094 82299648 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-565K arrays 21546498 chr7 81789094 82320322 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-555K arrays 21546498 chr7 81793862 81794145 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 81820958 81821048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 81863749 81864728 Gain and loss Pancreatic cancer SNP array 17952125 chr7 82057034 82058073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 82064337 82109072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 82115223 82115323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 82133365 82771544 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 821953 1821953 Deletion or amplification Glioblastoma multiforme - 21525872 chr7 82223443 82436559 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr7 82223443 82436559 Gain and loss Pancreatic cancer SNP array 17952125 chr7 82225378 82630133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 82271185 83469066 LOH Normal High-resolution SNP genotyping 21211785 chr7 822778 881083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 822778 881083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 82287732 82314451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 82291866 82291978 Gain and loss Pancreatic cancer SNP array 17952125 chr7 82291866 82291979 Gain and loss Pancreatic cancer SNP array 17952125 chr7 82337677 82337777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8241584 8363438 Duplication Depressive disorder Perlegen 600K platform 21152026 chr7 82420194 83167402 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 82430328 82430498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8246825 8565830 Deletion T-cell lymphomas Array-CGH 22341440 chr7 82477488 82477588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8248407 8248507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 82485150 82485263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 82553896 82555900 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 82561320 82563820 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 82621618 82623451 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 82637873 82922975 Gain and loss Pancreatic cancer SNP array 17952125 chr7 82640980 82641074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 82676606 82682474 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 82695362 82695666 Loss Normal 244K array 17666407 chr7 82718601 82718701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 82748832 82748894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 82784399 82784716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 82784414 82784731 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 82831158 83116262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 82831158 83116262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 82849646 82913931 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 82851544 82851685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 82856583 82856784 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 8286211 8286262 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr7 82886501 82890900 Deletion Glioma mate-paired sequence 20126413 chr7 82888106 82889130 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 82888354 82889107 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 82905321 83167402 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 82905766 83417714 LOH Normal High-resolution SNP genotyping 21211785 chr7 82945157 83104763 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 82985641 83052253 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 83016317 83016415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 83157862 83157962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 83187510 85817879 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr7 83219258 83219317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 83235141 83468560 Gain and loss Pancreatic cancer SNP array 17952125 chr7 83278033 83278133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 83313639 83313684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 83315606 85667430 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 83368001 86528568 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 83374405 83374471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 83386854 83386955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 83425601 83662153 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 83425601 83662153 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 83433029 84612691 LOH Normal High-resolution SNP genotyping 21211785 chr7 83476146 83476246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 83516888 83540412 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr7 83519619 83564455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 83547798 83548123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 83558987 83565919 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 835810 835903 Gain and loss Pancreatic cancer SNP array 17952125 chr7 8360773 9554061 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 83656338 83656438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 83682240 83682726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 83763638 83797047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 83776050 84537946 LOH Normal High-resolution SNP genotyping 21211785 chr7 83804364 83849119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 83821138 83821238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 83834194 84122855 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 83836878 83863047 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr7 83843563 83843882 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 83961235 83961335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8400707 8400791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8401407 8401439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84014383 85440442 LOH Normal High-resolution SNP genotyping 21211785 chr7 84092317 84092417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84118293 84118393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8414480 8429343 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 84150628 84150885 Gain and loss Pancreatic cancer SNP array 17952125 chr7 84163819 84163896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84172626 84172698 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 84257523 84258476 Gain and loss Pancreatic cancer SNP array 17952125 chr7 84269525 84395898 Gain and loss Pancreatic cancer SNP array 17952125 chr7 8430074 8432066 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 84301807 84303541 Gain and loss Pancreatic cancer SNP array 17952125 chr7 84343913 84344170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 84400008 84400108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8440110 8759118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 8440110 8759118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 84450808 84451761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 84450808 84451761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 84462812 84589183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 84462812 84589183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 84475104 84485492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 845679 845981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 84582758 84600037 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 84594509 84629015 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 8461937 8462037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84634151 84634744 Gain and loss Pancreatic cancer SNP array 17952125 chr7 84640270 84640370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84655085 84655345 Gain and loss Pancreatic cancer SNP array 17952125 chr7 84682137 84682237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84687444 84687533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84732707 84732771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8473584 8792592 Amplification Prostate cancer aCGH 22341455 chr7 84797973 84962693 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 84901586 84901701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84901726 84901854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84901732 84901959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84933888 84933988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 84986899 85032612 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 85020050 85053513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 8513122 8513646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 85140643 85211420 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr7 85183984 85184084 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85216501 85217500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 85326834 85326931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8534748 8534960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8534952 8535128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8534975 8535075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85410000 86440000 Loss Acute lymphoblastic leukemia - 21339820 chr7 85412075 86510740 LOH Normal High-resolution SNP genotyping 21211785 chr7 85412075 86974162 LOH Normal High-resolution SNP genotyping 21211785 chr7 85414120 85414194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85414972 86445002 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 chr7 85416296 86236536 LOH Normal High-resolution SNP genotyping 21211785 chr7 854204 854383 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr7 85443416 85467339 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 85446684 85446774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85455787 86044724 LOH Normal High-resolution SNP genotyping 21211785 chr7 85473671 86700841 LOH Normal High-resolution SNP genotyping 21211785 chr7 85481554 85481654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85499832 86700841 LOH Normal High-resolution SNP genotyping 21211785 chr7 85609264 86438136 LOH Normal High-resolution SNP genotyping 21211785 chr7 8563878 8564639 Gain and loss Pancreatic cancer SNP array 17952125 chr7 85712733 85712833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85716775 85716875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85790019 87337406 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 85832160 85832252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85858873 87529916 LOH Normal High-resolution SNP genotyping 21211785 chr7 85901179 86510740 LOH Normal High-resolution SNP genotyping 21211785 chr7 85902833 85902933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85917875 86138842 Gain and loss Pancreatic cancer SNP array 17952125 chr7 85927516 85927616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85944407 85944507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 85946244 85946344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86027118 87661624 LOH Normal High-resolution SNP genotyping 21211785 chr7 86069254 86083219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 86069304 86083786 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 86069304 86083786 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 86072120 86072821 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 86072821 86082341 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 86082341 86082419 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 86082419 86082990 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 8610746 8636637 Loss Normal 244K array 17666407 chr7 86109886 86109986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86111160 86332127 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86111160 86332127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 86111160 86332127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86111165 86332128 Copy number Lung cancer - 20668451 chr7 86111165 86332128 Gain or loss Breast cancer - 20668451 chr7 86111165 86332128 Gain or loss Cancer - 20668451 chr7 86111165 86332128 Gain or loss Lung cancer - 20668451 chr7 86111165 86332128 Gain or loss Ovarian cancer - 20668451 chr7 86111165 86332128 Gain or loss Pancreas cancer - 20668451 chr7 86111165 86332128 Gain or loss Prostate cancer - 20668451 chr7 86154438 86215339 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86172794 87008915 LOH Normal High-resolution SNP genotyping 21211785 chr7 86218848 86333396 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86233550 86267371 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 862553 864890 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86266301 86266401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86273229 86494191 Amplification Prostate cancer aCGH 22341455 chr7 86294466 86974162 LOH Normal High-resolution SNP genotyping 21211785 chr7 86294466 86976284 LOH Normal High-resolution SNP genotyping 21211785 chr7 86294466 87008915 LOH Normal High-resolution SNP genotyping 21211785 chr7 86303386 86303568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86303605 86303709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86324 86397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86326662 86326752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86329451 86329551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86347174 86409332 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86347174 86409332 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 86347174 86409332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86375033 86972469 LOH Normal High-resolution SNP genotyping 21211785 chr7 86385153 86419382 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 86400000 88200000 Gain and amplification Multiple myeloma Array CGH 16616336 chr7 86412133 86526765 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86412133 86526765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86426379 86470294 Gain and loss Pancreatic cancer SNP array 17952125 chr7 8644267 8661412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 86447632 86459455 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 86470131 86493682 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86478944 86479044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86492580 86492679 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86492581 86492679 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86506221 86689013 Amplification Prostate cancer aCGH 22341455 chr7 86510740 86550344 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 8652307 8673887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 86524420 87050661 LOH Normal High-resolution SNP genotyping 21211785 chr7 8653835 8666223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 86540668 86540892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 86550344 87529916 LOH Normal High-resolution SNP genotyping 21211785 chr7 86554447 86554547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86584218 87661624 LOH Normal High-resolution SNP genotyping 21211785 chr7 86615630 86619345 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86619662 86673760 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86619664 86663580 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86619664 86663580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 86619664 86663580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86623677 86623777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86644535 87670907 LOH Normal High-resolution SNP genotyping 21211785 chr7 8665154 8665371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 86663412 86687791 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86663418 86686967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 86663418 86686967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86674551 86674859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 86676017 86749706 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86685058 86685158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86685863 86685964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86689193 86689237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86717206 87411565 LOH Normal High-resolution SNP genotyping 21211785 chr7 86720725 87411565 LOH Normal High-resolution SNP genotyping 21211785 chr7 86720725 87413437 LOH Normal High-resolution SNP genotyping 21211785 chr7 86728779 87555064 LOH Normal High-resolution SNP genotyping 21211785 chr7 86755001 86759500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 86777599 86987215 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86779323 86785351 Deletion Glioblastoma multiforme Array CGH 19115005 chr7 86781676 86825647 Amplification Prostate cancer aCGH 22341455 chr7 86784925 86785025 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86792477 86812767 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86792599 86812744 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 86792602 86812744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 86792602 86812744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86808147 87413437 LOH Normal High-resolution SNP genotyping 21211785 chr7 86808147 87573343 LOH Normal High-resolution SNP genotyping 21211785 chr7 86812947 86867045 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86812947 86867045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 86812947 86867045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86823930 87601043 LOH Normal High-resolution SNP genotyping 21211785 chr7 86825477 86849030 Amplification Prostate cancer aCGH 22341455 chr7 86832560 86832640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86838668 86838721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86852225 86852362 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86852405 86852596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86856076 86856176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86858 86960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86858 86961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86867423 86873884 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 86869296 86942955 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 86869296 86947687 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86869302 86942991 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 86869302 86942991 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86898124 86898223 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86902380 87104406 Gain and loss Pancreatic cancer SNP array 17952125 chr7 86941402 87564746 LOH Normal High-resolution SNP genotyping 21211785 chr7 86944458 87845912 LOH Normal High-resolution SNP genotyping 21211785 chr7 86970884 87180506 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 86970884 87180506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 86970884 87180506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 86974142 86974242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 86974950 87029111 Amplification Prostate cancer aCGH 22341455 chr7 86979560 87661624 LOH Normal High-resolution SNP genotyping 21211785 chr7 86979560 87677912 LOH Normal High-resolution SNP genotyping 21211785 chr7 86981894 88394534 LOH Normal High-resolution SNP genotyping 21211785 chr7 86992051 89564395 LOH Normal High-resolution SNP genotyping 21211785 chr7 86992629 86992729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87018134 88101138 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 87031360 87105018 Amplification Prostate cancer aCGH 22341455 chr7 870382 872138 Gain and loss Pancreatic cancer SNP array 17952125 chr7 87039984 88085686 LOH Normal High-resolution SNP genotyping 21211785 chr7 87056526 87056626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87059443 87845912 LOH Normal High-resolution SNP genotyping 21211785 chr7 870857 870912 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 87091409 87091508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87095665 87297691 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 87095665 87297691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87105599 87105699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87110068 87150319 Gain and loss Pancreatic cancer SNP array 17952125 chr7 87127447 87127535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87132947 87342563 Amplification Prostate cancer aCGH 22341455 chr7 87133178 87342639 Gain Esophageal adenocarcinoma MLPA 18820669 chr7 87146270 87149038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 87150195 87183507 Gain and loss Pancreatic cancer SNP array 17952125 chr7 87162510 87162600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8716790 8717116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 87208353 87471098 Gain and loss Pancreatic cancer SNP array 17952125 chr7 87220239 87220325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87240000 158600000 Gain Burkitt's lymphoma 244 K aCGH platform 19759907 chr7 87257728 87461612 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 87257728 87461612 Amplification Prostate cancer aCGH 22341455 chr7 87262803 87262903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87303353 87343604 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 87303353 87343604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87303353 87343604 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 87317485 87317585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87319087 87319187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8732462 20510540 Copy number Pleomorphic liposarcoma Affymetrix 250K oligonucleotide StyI arrays 18784837 chr7 87343479 87376792 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 87343480 87376792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 87343480 87376792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87401394 87670140 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 87401638 87664383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87401717 87649279 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87401717 87663742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 87401717 87663742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87462726 87462862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87463813 87505691 Amplification Prostate cancer aCGH 22341455 chr7 87479086 87500959 Gain and loss Pancreatic cancer SNP array 17952125 chr7 87498222 88040051 LOH Normal High-resolution SNP genotyping 21211785 chr7 87503175 87628645 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 87505543 87538855 Amplification Prostate cancer aCGH 22341455 chr7 87506762 87510806 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 87508675 87510328 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 87551998 87580857 Gain and loss Pancreatic cancer SNP array 17952125 chr7 87563701 87826453 Amplification Prostate cancer aCGH 22341455 chr7 87585124 87622859 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 8758517 8758791 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 87662888 87662988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87672371 87694250 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 87672371 87694250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 87672371 87694250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87702313 87707770 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 87723058 87723197 Gain and loss Pancreatic cancer SNP array 17952125 chr7 87731680 87974020 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 87740869 87774609 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 87743687 87774145 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 87743687 87774145 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 87743687 87774145 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 87744107 88101138 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 87774398 87774476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87834431 87856307 Amplification Prostate cancer aCGH 22341455 chr7 87891721 107605147 Gain Malignant melanoma BAC array CGH 17260012 chr7 8789708 8833025 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 87905743 87936208 Amplification Prostate cancer aCGH 22341455 chr7 8791132 8825183 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 8791132 8833025 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 8791132 8833802 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 87913071 87914303 Gain and loss Pancreatic cancer SNP array 17952125 chr7 87916343 87916482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 8792410 8832522 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr7 87929236 87929685 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 8793134 8833025 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 8793695 8832522 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 87965098 87965198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87981475 87981575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 87995349 88497382 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-572K arrays 21546498 chr7 87995349 89721981 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-575K arrays 21546498 chr7 88000000 158821424 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 88000000 90900000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 88000000 97900000 Deletion Myoclonus-dystonia Affymetrix Gene Mapping 100K SNP array 17898012 chr7 88002306 89716593 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 88002306 89716593 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 88013461 88034391 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 88033513 88047367 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 88033942 88610997 Gain and loss Pancreatic cancer SNP array 17952125 chr7 88068072 88069682 Gain and loss Pancreatic cancer SNP array 17952125 chr7 88107771 88107877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 88113930 88114080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88122487 88122587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88133687 88133787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88181759 89562430 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 88200000 91100000 Loss Mental retardation Array CGH 17847001 chr7 88226689 88804282 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 88226689 88804282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 88226689 88804282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 88228286 88228365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88228805 88228899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88231263 88235891 Loss Normal 244K array 17666407 chr7 88241866 88241970 Gain and loss Pancreatic cancer SNP array 17952125 chr7 88245792 88245892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88259549 89352291 LOH Normal High-resolution SNP genotyping 21211785 chr7 88261357 88262967 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 88261357 88262967 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 88261357 88262967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 88265959 88575146 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 88265959 89473706 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 882716 902597 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr7 882717 902599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 882717 902599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 88350977 88651225 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 88354440 88356793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 8836021 44216444 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.24 20877625 chr7 8836021 44216444 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.26 20877625 chr7 88364758 88397681 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 8837835 8837935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88422001 88435800 Deletion Glioma mate-paired sequence 20126413 chr7 88423419 88425030 Amplification Prostate cancer aCGH 22341455 chr7 88435151 88435255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 8846889 9005429 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 88469847 88469936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8848504 8869659 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 8849544 8871787 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 8854441 8882250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 88561479 88561579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88575146 89271547 LOH Normal High-resolution SNP genotyping 21211785 chr7 8862830 8877497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 88662744 88662839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88681697 88686124 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr7 88713705 88747336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 88756171 88756271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88791375 88792040 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 8883154 8883254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 888501 1110500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 888570 923176 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 88870626 88870678 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 88932855 88932955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88954664 90580463 LOH Normal High-resolution SNP genotyping 21211785 chr7 88983492 88983592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 88994935 88995021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 89020674 89825858 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 89028585 89028691 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89028586 89028691 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89028789 89548951 Duplication Intellectual disability Array CGH 22102821 chr7 89151139 89152440 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 89159046 89183473 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 89243400 89244965 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr7 8925252 8925352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 892539 3753994 Duplication Nasopharyngeal cancer Partek Segmentation 20548289 chr7 89269764 89269864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89271547 89860193 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 8931462 8953347 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 893244 893318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8933325 8933425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89352291 89373418 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 89352291 89373418 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 89373418 91015896 LOH Normal High-resolution SNP genotyping 21211785 chr7 89390301 89394400 Deletion Glioma mate-paired sequence 20126413 chr7 89392028 89392482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 89392191 89392415 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr7 89393365 89399565 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89394963 89549758 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 8940482 8953347 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 89428340 89438791 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89436809 89437124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 8944942 8945524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 89485651 89511580 Gain and loss Pancreatic cancer SNP array 17952125 chr7 8950108 8950208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89516716 89519882 Gain Normal 244K array 17666407 chr7 89519160 89584352 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89524201 90667730 LOH Normal High-resolution SNP genotyping 21211785 chr7 89525653 89525753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89525888 89525983 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89557288 89558448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 89564395 89629722 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 89610634 89610734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89620630 89660025 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89621624 89632077 Gain or loss Breast cancer - 20668451 chr7 89621624 89632077 Gain or loss Cancer - 20668451 chr7 89621624 89632077 Gain or loss Lung cancer - 20668451 chr7 89621624 89632077 Gain or loss Ovarian cancer - 20668451 chr7 89621624 89632077 Gain or loss Pancreas cancer - 20668451 chr7 89621624 89632077 Gain or loss Prostate cancer - 20668451 chr7 89621625 89632076 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 89621625 89632076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 89621625 89632076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 89626742 89825983 Gain Autism qPCR, Illumina1M 20531469 chr7 89629722 89650778 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 89629722 89650778 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 89638591 89638674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 89641294 89641379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89646601 89652200 Deletion Glioma mate-paired sequence 20126413 chr7 89647938 89650521 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 89648395 89650524 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 89650778 89670653 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 89650778 91015896 LOH Normal High-resolution SNP genotyping 21211785 chr7 89665775 92053995 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 89670653 97155658 LOH Normal High-resolution SNP genotyping 21211785 chr7 89676520 89678885 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 89677413 89689917 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89678936 89704928 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 89678936 89708027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 89678936 89708027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 89679728 89679825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89680330 125204064 Deletion Myelodysplastic syndrome - 21251322 chr7 89712423 89778311 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 89712435 89778313 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 89712461 89778304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 89712461 89778304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 89719173 89719270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 89783688 89794140 Amplification Prostate cancer aCGH 22341455 chr7 898125 1345289 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 chr7 89813926 89854586 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 89813926 89854586 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 89813926 89854586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 8982684 8982774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 8984082 8984166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89840999 89866991 Amplification Prostate cancer aCGH 22341455 chr7 89841120 89841161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 89850970 89883204 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 89860074 89860390 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 89865565 89867207 Loss Normal 244K array 17666407 chr7 89870462 90484555 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89870698 89883204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 89870698 89883204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 89870698 89883204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 89874487 89940376 Amplification Prostate cancer aCGH 22341455 chr7 89880971 89881073 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89924533 98997268 Amplification Cancer Affymetrix 250K Sty array 20164920 chr7 89960796 89960896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 899753 906692 Gain and loss Pancreatic cancer SNP array 17952125 chr7 89975989 90016649 Amplification Prostate cancer aCGH 22341455 chr7 90023270 90024002 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 90024002 90030546 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 90030546 90058767 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 90032711 90045267 Amplification Prostate cancer aCGH 22341455 chr7 90032731 90032800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9004730 9224814 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-574K arrays 21546498 chr7 90063878 90677840 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 90063878 90677840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 90063878 90677840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 90074256 90074358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 90095737 90839904 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 90099156 90099818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 90151556 90151645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90165921 90166021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90210000 90440000 Loss Acute lymphoblastic leukemia - 21339820 chr7 90211885 90212091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 90227282 90262332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90234765 90234845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 902447 1887560 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr7 90263945 90265553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 90275137 90275237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90281001 90314464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90300000 97200000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr7 90314769 90358033 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr7 90324758 91161022 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 90336064 90336133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90338711 90839903 Amplification Prostate cancer aCGH 22341455 chr7 90344991 90345091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90352635 90353229 Loss Normal 244K array 17666407 chr7 90358253 90358592 Gain Normal 244K array 17666407 chr7 904062 960815 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 904062 981761 Amplification Normal BAC aCGH 22315515 chr7 904066 960811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 904066 960811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 90421869 90422175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 90427687 90447959 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr7 90471581 90471681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90472801 91408900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 90473559 90484328 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 90499001 90499079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90499372 90499422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90538434 90542783 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9054313 9054413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9056002 9072097 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 90574625 90575044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 90633327 119508217 Deletion Acute myeloid leukemia - 21251322 chr7 90642866 90642966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90654169 90697474 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90662357 90690385 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90669957 90670057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90719397 90719481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90731718 90736068 Gain or loss Breast cancer - 20668451 chr7 90731718 90736068 Gain or loss Cancer - 20668451 chr7 90731718 90736068 Gain or loss Lung cancer - 20668451 chr7 90731718 90736068 Gain or loss Ovarian cancer - 20668451 chr7 90731718 90736068 Gain or loss Pancreas cancer - 20668451 chr7 90731718 90736068 Gain or loss Prostate cancer - 20668451 chr7 90731719 90736059 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 90731719 90736059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 90731719 90736059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 90732501 90734000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 90767044 90767144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90821622 90821766 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90826277 90826377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90838361 90874450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90839534 90874101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90843864 90843964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90847101 90869603 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90847381 90872349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90849738 90896077 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90851298 90873771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 90864344 90865184 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 90865184 90867404 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 90867404 90869278 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 90869018 90880517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 90869278 90869671 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 90869498 90880956 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 90869498 90880956 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 90869671 90877827 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 90877827 90878663 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 90878663 90885502 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 90893782 90898131 Amplification Prostate cancer aCGH 22341455 chr7 90900000 92600000 Amplification Normal - 22101487 chr7 90900000 92600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 90900000 92600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 90900000 92600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 90900000 92600000 Gain Multiple myeloma CGH, FISH 16461302 chr7 90918448 90925614 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 9095327 9194365 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 9095327 9199580 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 90987922 90988022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 90998175 115242268 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr7 91026237 92214845 LOH Normal High-resolution SNP genotyping 21211785 chr7 91035720 91597770 LOH Normal High-resolution SNP genotyping 21211785 chr7 91043518 91046197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 91052152 91058686 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 91071746 92374392 LOH Normal High-resolution SNP genotyping 21211785 chr7 91071746 92458365 LOH Normal High-resolution SNP genotyping 21211785 chr7 91071746 92474874 LOH Normal High-resolution SNP genotyping 21211785 chr7 91100000 92800000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 chr7 91146856 91154667 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91161568 91761815 LOH Normal High-resolution SNP genotyping 21211785 chr7 9116958 9117057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91184378 91184428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91196351 91198312 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 91196567 91196798 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr7 91214843 91384640 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91216179 91261187 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 91256377 91865724 LOH Normal High-resolution SNP genotyping 21211785 chr7 91262520 91262620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91276458 91276558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91280455 92374392 LOH Normal High-resolution SNP genotyping 21211785 chr7 91339957 91347952 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91339957 91347952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 91339957 91347952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91350071 91350171 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91354501 91356000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 91386124 91408329 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91397761 91424705 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 91408127 91577925 Copy number Lung cancer - 20668451 chr7 91408127 91577925 Gain or loss Breast cancer - 20668451 chr7 91408127 91577925 Gain or loss Cancer - 20668451 chr7 91408127 91577925 Gain or loss Lung cancer - 20668451 chr7 91408127 91577925 Gain or loss Ovarian cancer - 20668451 chr7 91408127 91577925 Gain or loss Pancreas cancer - 20668451 chr7 91408127 91577925 Gain or loss Prostate cancer - 20668451 chr7 91408128 91577925 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91408128 91577925 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 91408128 91577925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91418859 91439101 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91419475 92902626 LOH Normal High-resolution SNP genotyping 21211785 chr7 91466314 91466414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91472934 91520065 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91476210 91476299 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91494001 91495250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 91502020 91510015 Amplification Prostate cancer aCGH 22341455 chr7 91520199 91673298 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91523768 91523838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 91529157 91529239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91546871 91546971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91570188 91739986 Amplification Prostate cancer aCGH 22341455 chr7 91577708 91577808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91579409 91601946 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91579409 91601946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 91579409 91601946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91601001 91602500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 91617157 91646781 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91617157 91646781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91617907 91865123 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr7 91648656 92374392 LOH Normal High-resolution SNP genotyping 21211785 chr7 91648656 92428808 LOH Normal High-resolution SNP genotyping 21211785 chr7 91648656 92453661 LOH Normal High-resolution SNP genotyping 21211785 chr7 91648656 92824311 LOH Normal High-resolution SNP genotyping 21211785 chr7 91648656 93182274 LOH Normal High-resolution SNP genotyping 21211785 chr7 91653241 91653341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91666219 91713350 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91666219 91713350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 91666219 91713350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91669493 91669584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91669917 91669975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91671265 91671348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91713483 91868634 Gain or loss Breast cancer - 20668451 chr7 91713483 91868634 Gain or loss Cancer - 20668451 chr7 91713483 91868634 Gain or loss Lung cancer - 20668451 chr7 91713483 91868634 Gain or loss Ovarian cancer - 20668451 chr7 91713483 91868634 Gain or loss Pancreas cancer - 20668451 chr7 91713483 91868634 Gain or loss Prostate cancer - 20668451 chr7 91713483 91868634 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 91713484 91866583 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91713484 91868634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91721539 91732800 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91728388 91760958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 91735020 91735105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91741462 91764058 Amplification Prostate cancer aCGH 22341455 chr7 91742730 91744346 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91751383 91751555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91751437 91751537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91751533 91751749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91760991 91802460 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91791097 91791197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91796309 91829640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 91802758 91811492 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91813701 92648600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 91828282 91875413 Amplification Prostate cancer aCGH 22341455 chr7 91835181 91864355 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91848605 92368284 Amplification Normal Arbitrated Peel-off 21527027 chr7 91848605 92368284 Amplification Normal Standard peel-off 21527027 chr7 91855809 92075241 Amplification or deletion Cancer Array CGH 17440070 chr7 91868561 92389278 LOH Normal High-resolution SNP genotyping 21211785 chr7 91875547 92030697 Amplification Prostate cancer aCGH 22341455 chr7 91878888 92107863 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91894221 92453661 LOH Normal High-resolution SNP genotyping 21211785 chr7 91894221 92488681 LOH Normal High-resolution SNP genotyping 21211785 chr7 91894221 92494348 LOH Normal High-resolution SNP genotyping 21211785 chr7 91898346 92524981 LOH Normal High-resolution SNP genotyping 21211785 chr7 91914701 91926678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91914701 91926678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 91914701 91926678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91916151 91916251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 91921079 92111471 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr7 91935631 91945186 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91935631 91945186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 91935631 91945186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91954276 91995781 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91954276 91995781 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 91954276 91995781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 91975673 91975779 Gain and loss Pancreatic cancer SNP array 17952125 chr7 91996022 92005254 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 91996023 92004758 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 91996023 92004758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 91996023 92004758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92030570 92047716 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 92068000 92292000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr7 92071300 92405407 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr7 92072170 92303813 Amplification Glioblastoma multiforme Illumina SNP arrays 22286061 chr7 92072170 92303813 Amplification Normal GISTIC2.0 21527027 chr7 92072170 92303813 Gain or loss Breast cancer - 20668451 chr7 92072170 92303813 Gain or loss Cancer - 20668451 chr7 92072170 92303813 Gain or loss Lung cancer - 20668451 chr7 92072170 92303813 Gain or loss Ovarian cancer - 20668451 chr7 92072170 92303813 Gain or loss Pancreas cancer - 20668451 chr7 92072170 92303813 Gain or loss Prostate cancer - 20668451 chr7 92072175 92301148 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 92072175 92301148 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 92072175 92301148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92075188 92075565 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 92076764 92088741 Amplification Prostate cancer aCGH 22341455 chr7 92078902 92079002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92116336 92157844 Amplification Prostate cancer aCGH 22341455 chr7 92157230 92160095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 92157230 92160095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92158086 92166822 Amplification Prostate cancer aCGH 22341455 chr7 92168958 92169064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92171193 92216176 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 92175171 92175206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92190071 92219705 Amplification Prostate cancer aCGH 22341455 chr7 92200158 92200258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9223305 9223405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92234234 92465940 Amplification Prostate cancer aCGH 22341455 chr7 92234236 92465941 Amplificationlication Myxofibrosarcoma aCGH 20639860 chr7 92244968 92245261 Gain and loss Pancreatic cancer SNP array 17952125 chr7 92257780 92318361 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 92262839 92301812 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 92278072 92311100 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 92299909 92300009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92302000 156450000 Loss Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr7 92318820 94464928 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 92328695 92328785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92341355 92385921 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 92404019 92422320 Gain and loss Pancreatic cancer SNP array 17952125 chr7 92438254 92438547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92442005 93621329 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 92455697 92455797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92459230 92459330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92462551 92493521 Gain and loss Pancreatic cancer SNP array 17952125 chr7 92506304 92632993 Gain and loss Pancreatic cancer SNP array 17952125 chr7 92516304 93182274 LOH Normal High-resolution SNP genotyping 21211785 chr7 92559017 92559068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92566768 92585272 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 92566768 92585272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 92566768 92585272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92583072 92583172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92597304 92615616 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 92597304 92615616 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 92597304 92615616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92600000 97900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 92616877 92616930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92646150 92679300 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 92655836 92693718 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 92655836 92693718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 92655836 92693718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92656714 92656814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92664712 92664913 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr7 92667696 92728322 Amplification or deletion Cancer Array CGH 17440070 chr7 92688741 92688841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 92698450 92848687 Gain and loss Pancreatic cancer SNP array 17952125 chr7 92699589 92826273 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 92699589 92826273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 92699589 92826273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92757899 92757982 Gain and loss Pancreatic cancer SNP array 17952125 chr7 92810393 92844184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 92865546 92865737 Gain and loss Pancreatic cancer SNP array 17952125 chr7 92891734 93041978 Gain or loss Breast cancer - 20668451 chr7 92891734 93041978 Gain or loss Cancer - 20668451 chr7 92891734 93041978 Gain or loss Lung cancer - 20668451 chr7 92891734 93041978 Gain or loss Ovarian cancer - 20668451 chr7 92891734 93041978 Gain or loss Pancreas cancer - 20668451 chr7 92891734 93041978 Gain or loss Prostate cancer - 20668451 chr7 92891735 93041686 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 92891735 93041686 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 92891735 93041686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92938163 92984546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 92943789 92944043 Gain and loss Pancreatic cancer SNP array 17952125 chr7 92950008 92950103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92951184 92951267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 92964736 93000893 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 92970657 92985173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 92971833 92975985 Loss Normal 244K array 17666407 chr7 93007917 93008032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 93035839 93078415 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93039347 93077541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93043715 93078484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93044953 93079996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93044979 93091354 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93045024 93073803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93060234 93080464 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93104204 93104304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93118752 93119275 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93159360 93164716 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93164339 93171383 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 93180471 93185041 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93195750 93200475 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93213516 93238384 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 93253001 93262600 Deletion Glioma mate-paired sequence 20126413 chr7 93254864 93260927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 93267214 93278341 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9329101 9329201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93304495 93338222 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93312037 93312560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 93332282 93332492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93353243 93358152 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 93353243 93358152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 93353243 93358152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 93353680 93358001 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 93357199 93357314 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93357398 93357607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93373756 93378421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 93373756 93378421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 93373756 93378421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 93379735 93380461 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 93379753 93380472 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 93379756 93380475 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 93388952 93393760 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 93388952 93393760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 93388952 93393760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 93430021 93471626 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 93430021 93471626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 93430021 93471626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 93456395 93456495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93463680 94335039 LOH Normal High-resolution SNP genotyping 21211785 chr7 93520254 94919009 LOH Normal High-resolution SNP genotyping 21211785 chr7 93668995 93705195 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93687524 93687728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 93696674 93696763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93705514 93737976 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 93716874 93716974 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93718635 93718735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9372700 9372800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93730519 93730716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 9373967 9374067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93746778 97319748 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 93769263 93769361 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93769264 93769363 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93783835 93830930 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93785750 93785814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93785921 93786021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93798938 93871273 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 93859195 93930129 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93861809 93898480 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 93861809 93898480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 93861809 93898480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 93867970 93868070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93868711 93868811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93900304 93900404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93918449 93918549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93930509 93943655 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93953471 93953549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93962547 93962652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 93964623 93964723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 93968988 93969227 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93977120 94024215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 93977120 94024215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 93977120 94024216 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 93986368 93986474 Gain and loss Pancreatic cancer SNP array 17952125 chr7 93986372 93986474 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94014382 94014437 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94039712 94039791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94052471 94123457 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 94052474 94123457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 94052474 94123457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94052480 94123414 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 94075477 94075721 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94080278 94080378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94107869 94108549 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94123572 94136942 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 94123573 94136940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 94123573 94136940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94180586 94180686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94181638 94567392 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94186961 94187050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94196234 94868265 LOH Normal High-resolution SNP genotyping 21211785 chr7 94201438 94201538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94205902 94206661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94207667 94207722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94207768 94207868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94211940 94212040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94268762 94269006 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94268762 94269070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94291060 94291134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94293694 94395779 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr7 94301166 94301689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94349188 94895703 LOH Normal High-resolution SNP genotyping 21211785 chr7 94372190 94372330 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94372190 94372333 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94374884 94757551 Fusion Glioblastoma multiforme Neighborhood Breakpoint Conservation 21510904 chr7 94374885 94763661 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 94374885 94763661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 94374885 94763661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94411294 94946474 LOH Normal High-resolution SNP genotyping 21211785 chr7 94549633 94559173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 94550551 94550636 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94565475 94565615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94571639 94598495 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94582409 94613817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 94604690 94604771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94633926 94670313 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94658856 94658956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94674877 95401327 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 94678826 94708946 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94743836 94743921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94748501 97506200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 94759935 94811722 Gain and loss Pancreatic cancer SNP array 17952125 chr7 94764924 94791780 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 94764924 94791780 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 94764924 94791780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94827119 94863623 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 94827122 94863623 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 94827122 94863623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 94827122 94863623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94827940 94840271 Copy number loss Normal High-resolution SNP genotyping 21211785 chr7 94857466 94870454 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9486463 9486563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94872109 94902320 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 94872111 94902320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 94872111 94902320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 94872111 94902320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94877380 94877480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94877501 94877714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94877517 94877617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9489991 9490064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94937065 94937165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 94953149 95005007 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 94953149 95005007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 94953149 95005007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 94998573 94998673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95004048 95004143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95009393 95011790 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 95011435 95011706 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 95034386 95034486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95046517 95372386 Gain and loss Pancreatic cancer SNP array 17952125 chr7 95050744 95063861 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 95050753 95063861 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 95050753 95063861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 95050753 95063861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 95059184 95059837 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr7 95069812 95069912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95088551 95099795 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 95101184 95101313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95101204 95101394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9515380 9515480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95155092 95155192 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9515691 9542242 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 9515691 9549140 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 95173648 95173748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95223632 95223717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95224190 95224520 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 95226052 95226152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95227886 95255786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 95228856 95228956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95239802 95565671 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 95239802 95565671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 95239802 95565671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 95286482 95321693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 95318415 95318515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95334643 95334743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9539110 9541155 Gain and loss Pancreatic cancer SNP array 17952125 chr7 95394184 95596056 Gain and loss Pancreatic cancer SNP array 17952125 chr7 95587469 95789341 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 95587469 95789341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 95587469 95789341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 95604601 95604706 Gain and loss Pancreatic cancer SNP array 17952125 chr7 95615103 95615209 Gain and loss Pancreatic cancer SNP array 17952125 chr7 95658288 95658388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95659646 95659740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95686910 95687004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 95699498 95699598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95701061 95714072 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 95755589 95777486 Gain and loss Pancreatic cancer SNP array 17952125 chr7 95774008 95774108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 95797886 95797992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 95808388 95808494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 95821860 95821960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 95887280 97199138 LOH Normal High-resolution SNP genotyping 21211785 chr7 95905449 95905763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 95907679 97139663 LOH Normal High-resolution SNP genotyping 21211785 chr7 95907679 97199138 LOH Normal High-resolution SNP genotyping 21211785 chr7 95913671 97199138 LOH Normal High-resolution SNP genotyping 21211785 chr7 95948874 95970771 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 95948874 95970771 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 95948874 95970771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 95954315 95955331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 95962734 95983854 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9599201 9604300 Deletion Glioma mate-paired sequence 20126413 chr7 95999784 95999884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9601160 9602502 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 9601160 9602503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 96016356 96107091 Copy number Normal Quantitative Real-Time PCR 17666543 chr7 96039672 96178245 Gain Normal Birdsuite, version 1.5.2 22087296 chr7 96084815 96134035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 96094622 96094722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96096003 96138761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 96098124 96129412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 96110304 96128038 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 9611085 9611268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9611172 9611271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9611277 9611406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96115813 96136696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 96116289 96130299 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 96117448 96129400 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 96119546 96130159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 96140172 96177139 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 9614486 9614616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 96150338 96150402 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96156019 96177139 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 96156019 96177139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 96156019 96177139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 96181058 96181158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9621133 9622138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 96214031 96214326 Gain and loss Pancreatic cancer SNP array 17952125 chr7 96216946 96217041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96277368 96277465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96280130 96285002 Gain and loss Pancreatic cancer SNP array 17952125 chr7 96294363 96298794 Gain and loss Pancreatic cancer SNP array 17952125 chr7 96311901 96321900 Deletion Glioma mate-paired sequence 20126413 chr7 96313823 96319930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 96343482 96343559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 9634650 9635993 Deletion Cancer CGH 22183965 chr7 9634650 9635993 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 chr7 96360680 96361007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 96366497 96366597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96379601 96386300 Deletion Glioma mate-paired sequence 20126413 chr7 96381159 96384381 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 96381267 96385408 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 96390551 96455722 Gain and loss Pancreatic cancer SNP array 17952125 chr7 96407316 96407611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 96407320 96407612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 96415539 96415608 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9642646 9646080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 96469001 96494000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 96473226 96478288 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 96473226 96478288 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 96473226 96478288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 96487638 96492079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 96487638 96492079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 96487638 96492079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 9653581 10688564 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 965785 973039 Gain and loss Pancreatic cancer SNP array 17952125 chr7 96583836 96649007 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 96584953 96649007 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 96584953 96649007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 96597826 96643376 Amplification Prostate cancer aCGH 22341455 chr7 96608824 96608893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 96628474 96628574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96635289 96640351 Amplification Prostate cancer aCGH 22341455 chr7 96649701 96654142 Amplification Prostate cancer aCGH 22341455 chr7 96651143 96651449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 96697051 97319748 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr7 96732668 96732909 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 96745904 96811074 Amplification Prostate cancer aCGH 22341455 chr7 96757148 96757462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 96758762 96758844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 9684295 9684337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96872896 96873221 Gain and loss Pancreatic cancer SNP array 17952125 chr7 96872896 96873223 Gain and loss Pancreatic cancer SNP array 17952125 chr7 96887128 96887201 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 96960657 96960731 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 97006026 97014433 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97030224 97067949 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 97031772 97060154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 97066181 97066508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97090174 97096105 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr7 971012 981761 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 971012 981761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97120935 97292680 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 97125271 97972838 LOH Normal High-resolution SNP genotyping 21211785 chr7 97126094 97146447 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97132792 97132822 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr7 97137781 97137881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 97161362 97161754 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97185990 100417700 LOH Normal High-resolution SNP genotyping 21211785 chr7 97199001 97201000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 97199138 97238943 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 97199311 97207696 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97199311 97207696 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97199311 97207696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97199324 142723486 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr7 97212402 97212756 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97221230 97246299 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97223497 97240399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 97223659 97239901 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 97223895 97239855 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 97223895 97242602 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr7 97230128 97241129 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 97230128 97241129 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 97230752 97240640 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr7 97230752 97240640 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr7 97231601 97241800 Deletion Glioma mate-paired sequence 20126413 chr7 97232751 97240500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 97233384 97260862 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 97233384 97292250 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 972336 1463188 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr7 97233946 97240537 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 97245709 97283644 Loss Normal 244K array 17666407 chr7 97250760 98053881 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr7 97255531 97292250 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 97258663 97264067 Amplification T-cell lymphomas Array-CGH 22341440 chr7 97258669 97264067 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97272288 97272585 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97297692 97297930 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97319379 97339732 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97319379 97339732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97319379 97339732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97323707 104995507 Gain Bladder cancer array-CGH 21909424 chr7 9732395 9734440 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 9732395 9734440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97330582 97341076 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 97334269 97334598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 97337021 97972838 LOH Normal High-resolution SNP genotyping 21211785 chr7 97337021 97977805 LOH Normal High-resolution SNP genotyping 21211785 chr7 97340874 97912279 LOH Normal High-resolution SNP genotyping 21211785 chr7 97340874 97994147 LOH Normal High-resolution SNP genotyping 21211785 chr7 97354392 97357175 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97354392 97357175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97354392 97357175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97361270 97369783 Amplification Prostate cancer aCGH 22341455 chr7 97373220 97373367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97380436 97380518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 97380848 97480252 Amplification T-cell lymphomas Array-CGH 22341440 chr7 97380848 97480252 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97395322 97395927 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97420379 97420451 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97433838 97439561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97433838 97439561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97433845 97439584 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97444862 97987203 LOH Normal High-resolution SNP genotyping 21211785 chr7 97451933 97457444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97451948 97457352 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97457666 97466617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 97462455 97987203 LOH Normal High-resolution SNP genotyping 21211785 chr7 97462455 98247805 LOH Normal High-resolution SNP genotyping 21211785 chr7 97463838 97997873 LOH Normal High-resolution SNP genotyping 21211785 chr7 97465573 97465868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97486255 97486842 Amplification T-cell lymphomas Array-CGH 22341440 chr7 97486255 97486842 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97488437 98098468 LOH Normal High-resolution SNP genotyping 21211785 chr7 97490687 97526119 Amplification T-cell lymphomas Array-CGH 22341440 chr7 97490977 97491215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97491123 97495252 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 97491123 97495252 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr7 97493323 98002650 LOH Normal High-resolution SNP genotyping 21211785 chr7 97493681 97495477 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 97496673 98098468 LOH Normal High-resolution SNP genotyping 21211785 chr7 97506201 100365100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 9754056 9773290 Loss Normal Birdsuite, version 1.5.2 22087296 chr7 97555638 97565490 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97555680 97565487 Amplification T-cell lymphomas Array-CGH 22341440 chr7 97566722 97675031 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97567207 97675031 Amplification T-cell lymphomas Array-CGH 22341440 chr7 97574132 97673537 Gain or loss Breast cancer - 20668451 chr7 97574132 97673537 Gain or loss Cancer - 20668451 chr7 97574132 97673537 Gain or loss Lung cancer - 20668451 chr7 97574132 97673537 Gain or loss Ovarian cancer - 20668451 chr7 97574132 97673537 Gain or loss Pancreas cancer - 20668451 chr7 97574132 97673537 Gain or loss Prostate cancer - 20668451 chr7 97574133 97673537 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97574133 97673537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97574133 97673537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97581848 97584404 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97613664 97613736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97640590 97672751 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 9764945 9765046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 97659757 97660547 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97663724 97663787 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97669501 97713500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 9767568 9772567 Loss Normal TaqMan assays 20972442 chr7 97679502 97680207 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97679502 97680207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97679502 97680207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97683993 97719404 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97683993 97719404 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97683993 97719404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97690000 100360000 Loss Acute lymphoblastic leukemia - 21339820 chr7 97713501 97746500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 9772796 9874459 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 9772796 9874459 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 97728076 97728596 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97746501 97765000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 97748922 97758775 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 97748923 97758775 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97748923 97758775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97748923 97758775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97760007 97868316 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97760007 97868316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 97760007 97868316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97765001 98815000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 97775216 97775775 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 97814383 97823349 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 97853042 97853832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97857009 97857072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97860256 97860413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 97891255 97903832 Gain and loss Pancreatic cancer SNP array 17952125 chr7 97891260 97903831 Amplification T-cell lymphomas Array-CGH 22341440 chr7 97900000 104400000 Amplification Biliary cancer Array CGH 19435499 chr7 97900000 104400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 97900000 104400000 Copy number Normal - 21701786 chr7 97900000 104400000 Deletion Splenic marginal zone lymphoma BAC CGH array 21957467 chr7 97900000 104400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr7 97900000 104400000 Gain Adenocarcinoma array-CGH 19607727 chr7 97900000 104400000 Gain Breast cancer Array CGH 16608533 chr7 97900000 104400000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr7 97900000 104400000 Gain Multiple myeloma CGH, FISH 16461302 chr7 97900000 104400000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr7 97900000 104400000 Gain T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr7 97900000 107200000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 97900000 158821424 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 97904363 97904442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 97921361 97921884 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 97932774 98561243 LOH Normal High-resolution SNP genotyping 21211785 chr7 97936830 97936930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 9798061 9841694 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 97982815 143810122 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr7 98000000 103800000 Copy number Effusion lymphoma Real-time QPCR 18079361 chr7 98000000 103800000 Copy number Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr7 98000000 103800000 Gain Medulloblastoma cDNA microarrays 17653508 chr7 98000000 103800000 Loss Emphysema MACArray Karyo 1.4K BAC chip 19352772 chr7 98000000 107400000 Copy number Autism Affymetrix 10K version 2 SNP array 19401682 chr7 98000000 107400000 Copy number Neuroticism SNP array 17667963 chr7 98000000 107400000 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 chr7 98027266 98033244 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 98029389 98033562 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 98029639 98037442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 98036992 98037098 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98055733 98861854 LOH Normal High-resolution SNP genotyping 21211785 chr7 98066347 98068987 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr7 98066479 98068686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 98080000 101210000 Gain Breast cancer aCGH 21509527 chr7 98084532 98097117 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 98084540 98097117 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98084540 98097117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98084540 98097117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98088762 98112294 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98088765 98112294 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98095624 98095719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98096778 98096878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98120764 98255490 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98120764 98278751 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98127265 98127364 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98202127 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 98230277 98230383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98248001 98248101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98256212 98446355 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr7 98269715 98386374 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98269715 98386374 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98282050 98305579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98282050 98305579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98282050 98305579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98282056 99266258 LOH Normal High-resolution SNP genotyping 21211785 chr7 98282056 99365301 LOH Normal High-resolution SNP genotyping 21211785 chr7 98284177 100120424 LOH Normal High-resolution SNP genotyping 21211785 chr7 98284177 99263712 LOH Normal High-resolution SNP genotyping 21211785 chr7 98284177 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 98294817 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 98298879 99256712 LOH Normal High-resolution SNP genotyping 21211785 chr7 98312440 98312540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98314049 98448775 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98314049 98448775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98314049 98448775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98320550 98320649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98332220 98393449 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr7 983474 1083962 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr7 98366792 98366832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98420185 98449740 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98448724 98472036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98448724 98472036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98449849 98450528 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 98462999 98579659 Gain or loss Breast cancer - 20668451 chr7 98462999 98579659 Gain or loss Cancer - 20668451 chr7 98462999 98579659 Gain or loss Lung cancer - 20668451 chr7 98462999 98579659 Gain or loss Ovarian cancer - 20668451 chr7 98462999 98579659 Gain or loss Pancreas cancer - 20668451 chr7 98462999 98579659 Gain or loss Prostate cancer - 20668451 chr7 98463000 98579664 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98463000 98579664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98463000 98579664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98463642 100308039 LOH Normal High-resolution SNP genotyping 21211785 chr7 98464935 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 98481148 98490020 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98484953 98485056 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98484953 98485063 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98515575 98540258 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98519497 99256712 LOH Normal High-resolution SNP genotyping 21211785 chr7 98519497 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 98519497 99454247 LOH Normal High-resolution SNP genotyping 21211785 chr7 98525758 99365301 LOH Normal High-resolution SNP genotyping 21211785 chr7 98525758 99454247 LOH Normal High-resolution SNP genotyping 21211785 chr7 9852591 9852847 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 98527923 99297793 LOH Normal High-resolution SNP genotyping 21211785 chr7 98527923 99454247 LOH Normal High-resolution SNP genotyping 21211785 chr7 98530537 99454247 LOH Normal High-resolution SNP genotyping 21211785 chr7 98530537 99470843 LOH Normal High-resolution SNP genotyping 21211785 chr7 98530566 98530645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98537159 98537248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98553174 99261371 LOH Normal High-resolution SNP genotyping 21211785 chr7 98553174 99262477 LOH Normal High-resolution SNP genotyping 21211785 chr7 98553174 99418856 LOH Normal High-resolution SNP genotyping 21211785 chr7 98553174 99584200 LOH Normal High-resolution SNP genotyping 21211785 chr7 98557285 100186291 LOH Normal High-resolution SNP genotyping 21211785 chr7 98561243 99263712 LOH Normal High-resolution SNP genotyping 21211785 chr7 98566616 99960745 LOH Normal High-resolution SNP genotyping 21211785 chr7 98568161 98608536 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98568161 98608536 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98591779 98615461 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 98611080 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 98613385 98643025 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98613385 98643025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98613385 98643025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98616980 98637053 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98616980 98637075 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98618771 100172621 LOH Normal High-resolution SNP genotyping 21211785 chr7 98618771 100179527 LOH Normal High-resolution SNP genotyping 21211785 chr7 98618771 100186291 LOH Normal High-resolution SNP genotyping 21211785 chr7 98618771 99296138 LOH Normal High-resolution SNP genotyping 21211785 chr7 98618771 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 9862867 11198033 LOH Normal High-resolution SNP genotyping 21211785 chr7 98633861 99316944 LOH Normal High-resolution SNP genotyping 21211785 chr7 98638261 98650943 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98638261 98650943 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98643228 99365301 LOH Normal High-resolution SNP genotyping 21211785 chr7 98651263 98661889 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98653954 98685847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 98656254 98656352 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9865685 10843973 LOH Normal High-resolution SNP genotyping 21211785 chr7 9865685 11197705 LOH Normal High-resolution SNP genotyping 21211785 chr7 9865685 11198033 LOH Normal High-resolution SNP genotyping 21211785 chr7 98658461 100078179 LOH Normal High-resolution SNP genotyping 21211785 chr7 98658461 100120835 LOH Normal High-resolution SNP genotyping 21211785 chr7 98658461 99296138 LOH Normal High-resolution SNP genotyping 21211785 chr7 98659013 98681021 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98659738 98674902 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 98661396 98681070 Amplification T-cell lymphomas Array-CGH 22341440 chr7 9867112 11187591 LOH Normal High-resolution SNP genotyping 21211785 chr7 9867112 11198033 LOH Normal High-resolution SNP genotyping 21211785 chr7 98678238 98678349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98678353 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 98681251 98699647 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98681347 98699645 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98686511 99365301 LOH Normal High-resolution SNP genotyping 21211785 chr7 98700403 100479248 LOH Normal High-resolution SNP genotyping 21211785 chr7 98700403 99303124 LOH Normal High-resolution SNP genotyping 21211785 chr7 98700403 99365301 LOH Normal High-resolution SNP genotyping 21211785 chr7 98700465 98708441 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98700469 98708441 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98708860 98733543 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98708860 98733543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98708860 98733543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98710511 98710848 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98715337 98729868 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98735506 98742528 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98735514 98742571 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98746947 98776095 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98746947 98776095 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98761445 98801821 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 98761446 98801821 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98761446 98801821 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98761446 98801821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98788575 98794325 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98800696 98818723 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98800870 98818724 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98810254 98830335 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98810264 98830340 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 98810265 98830338 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98810265 98830338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98812634 98812718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98815001 98894000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 98830524 98885315 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr7 98830524 98885315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98830525 98844228 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98830525 98844228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98830525 98844228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98844527 98855175 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 98844528 98855174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98844528 98855174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98844537 98855175 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98849539 98849637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98852298 98874306 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98853924 101547956 Loss Chronic lymphocytic leukemia NimbleGen Human CGH 4*72K Whole Genome v2.0 array 22228453 chr7 98854693 98874355 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98854693 98874355 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98859222 98873178 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98861322 98874671 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98869581 98869637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 98874499 98892930 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98874499 98892930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98874499 98892930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98878488 98878683 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98878488 98878683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98890152 99026459 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98890474 98922272 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98893719 98901744 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 98893721 98901744 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98893721 98901744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98893721 98901744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98899072 98932384 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 98903796 98904133 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98908450 98923153 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 98908450 98923153 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 98908451 98934680 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98908451 98934680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98908451 98934680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98928799 98935856 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98928806 98935840 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98928806 98935840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 989361 995802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 989361 995802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98937882 105570154 Gain Prostate cancer Array CGH 18632612 chr7 98938016 98977472 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98938450 98942308 Gain and loss Pancreatic cancer SNP array 17952125 chr7 98940209 98969380 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98940209 98969380 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98940209 98969380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98947311 98977472 Amplification T-cell lymphomas Array-CGH 22341440 chr7 98968784 98969551 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 98981860 98987652 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98981867 98987693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98982245 98983966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98991050 98991140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 98993981 99012008 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 98993981 99012008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 98993981 99012008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 98994383 99012013 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr7 98999255 99026459 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99002599 99002699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 99052507 99067966 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99052507 99067966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99052507 99067966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99070287 99108824 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99070287 99108824 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99070839 99073480 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99070839 99073480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99083759 99115555 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99083759 99115555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99083759 99115555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99118336 99119307 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99120785 99170757 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99120785 99170757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99120785 99170757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99131735 99135593 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99131735 99135593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99132688 99161805 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99146800 99146900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 99148596 99148711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99164559 100355166 LOH Normal High-resolution SNP genotyping 21211785 chr7 99165819 99171894 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99178884 99178982 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99178884 99178983 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99192540 99219744 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99192540 99219744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99192540 99219744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99193874 99194498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 99194314 99194428 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99209003 99218338 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99209003 99218338 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99210259 99274570 Loss Normal 244K array 17666407 chr7 99223040 99237624 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9923433 10109354 Copy number gain Normal High-resolution SNP genotyping 21211785 chr7 99257873 99280083 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99257873 99281596 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99263572 99302109 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99263572 99302109 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99263572 99302109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99292068 99307314 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99292068 99314037 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99299326 99301498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr7 99306121 99323981 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99306305 99324002 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99307676 102120122 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr7 99311621 99312592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99311621 99312592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99311621 99312592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99325973 99355090 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99325973 99355115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99325973 99355115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99331234 99334471 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99331234 99334474 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99335055 99344078 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99335055 99344078 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99335834 99335917 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99336042 99336121 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99336267 99336348 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99343831 99349453 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99343831 99352592 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99349345 99361630 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99349345 99361630 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99354283 99354353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 99358828 99365179 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99358828 99365260 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99358828 99365260 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99361912 99367778 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99361916 99367782 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99368968 99370765 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99368968 99370769 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99372169 99372270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99387592 99387717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99387599 99387713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99389199 100078785 LOH Normal High-resolution SNP genotyping 21211785 chr7 99389199 100208939 LOH Normal High-resolution SNP genotyping 21211785 chr7 99391187 99396483 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99391193 99396476 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99396696 99400953 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99396696 99400953 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99401519 99410867 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99401519 99410867 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99402290 99411623 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99402290 99411623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99402290 99411623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99411425 99444406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 99411881 99419641 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99411881 99419641 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99416325 99423082 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99416325 99423082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99419998 99463757 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99419998 99469266 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99435704 100086751 LOH Normal High-resolution SNP genotyping 21211785 chr7 99442934 99514492 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99451154 99473339 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 99451155 99473339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99451155 99473339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99451155 99473339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99451212 99454276 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9945839 9993628 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 99463302 99506000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr7 99472914 99473846 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 99485353 99507322 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99485353 99507322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99485353 99507322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99499787 99517299 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99499787 99517299 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99499787 99517299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99500769 99501138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 9950436 9950624 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr7 99524001 99614000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 99524518 99527758 Copy number Gastric cancer Human cDNA microarrays 17229543 chr7 99524518 99527758 Gain or loss Breast cancer - 20668451 chr7 99524518 99527758 Gain or loss Cancer - 20668451 chr7 99524518 99527758 Gain or loss Lung cancer - 20668451 chr7 99524518 99527758 Gain or loss Ovarian cancer - 20668451 chr7 99524518 99527758 Gain or loss Pancreas cancer - 20668451 chr7 99524518 99527758 Gain or loss Prostate cancer - 20668451 chr7 99524518 99527758 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 99524519 99527756 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99524519 99527756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99524519 99527756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99528340 99537363 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99528340 99537363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99528340 99537363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99529119 99529202 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 99529119 99529202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99529327 99529406 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 99529327 99529406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99529552 99529633 Deletion Acute myeloid leukemia BAC aCGH 20962326 chr7 99529552 99529633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99532388 142194035 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr7 99534070 99534114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 99537066 99542739 Copy number Autism exome sequencing 22495311 chr7 99537066 99542744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99537066 99542744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99537116 99542744 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99542638 99554915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99542638 99554915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99542638 99554915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99542672 99542731 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr7 99555197 99561063 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99555197 99561063 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99555197 99561063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99555374 99564469 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99558132 100396080 LOH Normal High-resolution SNP genotyping 21211785 chr7 99558132 100400265 LOH Normal High-resolution SNP genotyping 21211785 chr7 99561501 99578470 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99562253 99564056 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99562253 99564056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99562253 99564056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99573052 99573151 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99573053 99573151 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99578388 99610103 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99584466 99589769 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99584466 99589769 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99584472 99589761 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99589983 99594244 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99589983 99594244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99589983 99594244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99594542 99610103 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99594802 99604309 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99594802 99604309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99594802 99604309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99605166 99612926 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99605166 99612926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99605166 99612926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99613474 99659778 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99613474 99659778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99613474 99659778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99615719 99642365 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99615719 99642373 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99630094 99630193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 99636219 99707766 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99636219 99707766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99636219 99707766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99643147 99670953 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99643147 99670953 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99647313 99775283 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chr7 99652501 99662500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 99654795 99657049 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99654795 99657049 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99654795 99657049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99655586 99655679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99662501 99788000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 99664182 100493986 LOH Normal High-resolution SNP genotyping 21211785 chr7 99671091 99676391 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99672180 99676392 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99677563 99678745 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99677563 99678745 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99698891 99706545 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99708795 99721553 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99708795 99721553 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9971004 9997515 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 99726201 99737073 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99726201 99737073 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99736181 99771866 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99736181 99771866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99736181 99771866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 9974080 9993628 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 99743261 99757754 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99743261 99757754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99743261 99757754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99766336 99766436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99771673 99803388 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99771673 99803388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99771673 99803388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99772636 99772924 Gain and loss Pancreatic cancer SNP array 17952125 chr7 9977432 10002306 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 9977432 9989018 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 9977432 9993628 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 9977432 9996874 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 9977432 9997515 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr7 99781486 99807920 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99781533 99807922 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99788001 99793000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 99788037 99788129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99793001 99863500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 99809003 99835658 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr7 99809004 99835650 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99809004 99835650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99809004 99835650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99809372 99812676 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99814506 99828427 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99814506 99828437 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99814649 99859297 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 99828662 99843389 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99828662 99843390 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99836430 99864238 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 99836432 99864238 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99836432 99864238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99836432 99864238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99844640 99850446 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99844641 99850445 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99844866 99845028 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr7 99854784 99857649 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99854784 99857651 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99862690 99885053 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99862691 99883810 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99863501 99930000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 99865190 99869676 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99865190 99869676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99865190 99869676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99870847 99872030 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 99870848 99872030 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99870848 99872030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99870848 99872030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99873610 100038722 Deletion Splenic marginal zone lymphoma FISH,BAC CGH array,Tiling CGH array,LOH analysis 21957467 chr7 99885360 99923768 Deletion Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr7 99885379 99898701 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99885382 99898722 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99892176 99899830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99892176 99899830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99892176 99899830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99902080 99914838 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99902080 99914838 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99902080 99914838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99916026 99921442 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99916026 99921443 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99919485 99930358 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr7 99919486 99930358 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99919486 99930358 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99919486 99930358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99922823 99930873 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99923617 99930873 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99930001 99997500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr7 99948420 99949768 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99948420 99949769 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99963074 99965972 Gain and loss Pancreatic cancer SNP array 17952125 chr7 99963074 99965974 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99965921 99966209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99965922 99966218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99969525 99981735 Loss or gain Normal 244K array 17666407 chr7 99970376 99989999 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 99970744 99991991 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 999743 999984 Deletion Breast cancer Illumina 1M duo array 20393555 chr7 99974770 100003778 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr7 99974770 100003778 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr7 99974770 100003778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr7 99975900 100040070 Amplification T-cell lymphomas Array-CGH 22341440 chr7 99976295 100040069 Gain and loss Pancreatic cancer SNP array 17952125 chr7 999858 1013419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr7 99986329 99987843 Loss Normal 244K array 17666407 chr7 99994321 99994421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr7 99997501 100022500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 0 146274826 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 100001 442500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 100002636 100002954 Gain and loss Pancreatic cancer SNP array 17952125 chr8 100002637 100002954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100002711 100002945 Gain and loss Pancreatic cancer SNP array 17952125 chr8 100004702 100005651 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 100005444 100204148 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr8 100021001 100022500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 100022501 100030000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 100025493 100889807 Amplification Prostate cancer aCGH 22341455 chr8 100025493 100889807 Deletion or duplication Cohen syndrome MLPA 20461111 chr8 100025846 100033508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 100025846 100033508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 100025846 100033508 Gain and loss Pancreatic cancer SNP array 17952125 chr8 100025846 100033508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100025857 100033504 Amplification T-cell lymphomas Array-CGH 22341440 chr8 100030001 100031500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 100037000 100037100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 100094670 100958983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 100094670 100958983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 100094670 100958983 Gain and loss Pancreatic cancer SNP array 17952125 chr8 100094670 100958983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100094670 100958984 Amplification T-cell lymphomas Array-CGH 22341440 chr8 100098024 100265857 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 100137111 100163064 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 100163064 100170208 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 10017198 10017297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 100196980 100197980 Gain Renal cell carcinoma References 21215367 chr8 100232706 100264916 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 100269659 100270659 Gain Renal cell carcinoma References 21215367 chr8 100314452 100315863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100356697 100356797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 100374375 100374444 Gain and loss Pancreatic cancer SNP array 17952125 chr8 100374375 100374444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1003824 1004824 Gain Renal cell carcinoma References 21215367 chr8 100387890 100387990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1004111 1004211 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 100421709 100423165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100427456 100429660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100473327 100604045 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 100473327 100731377 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 100473327 100907800 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 100549013 100549088 Amplification Prostate cancer aCGH 22341455 chr8 1005884 1009470 Copy number Autism exome sequencing 22495311 chr8 100609230 100609329 Gain and loss Pancreatic cancer SNP array 17952125 chr8 100609230 100609331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100618040 100618134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100618190 100618265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 10065124 10066124 Loss Renal cell carcinoma References 21215367 chr8 100695190 100695474 Gain and loss Pancreatic cancer SNP array 17952125 chr8 100695190 100695474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100695190 100695482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100777361 100779421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100821235 100821320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 100846960 100850429 Amplification or deletion Cancer Array CGH 17440070 chr8 10085583 10085631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 100890222 100906241 Amplification Prostate cancer aCGH 22341455 chr8 100900118 100900218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 100959547 100975071 Translate Uterine leiomyoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 chr8 100959548 100975071 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 100959548 100975071 Amplification T-cell lymphomas Array-CGH 22341440 chr8 100959548 100975071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 100959548 100975071 Gain and loss Pancreatic cancer SNP array 17952125 chr8 100959548 100975071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 100973275 101118343 Amplification Prostate cancer aCGH 22341455 chr8 10099045 12714625 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 10100000 12700000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 chr8 101000476 101348744 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.0 ST arrays. 21853135 chr8 101042452 101187520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101042453 101187366 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101042453 101187520 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101042483 101187347 Amplification T-cell lymphomas Array-CGH 22341440 chr8 101081375 101081475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 101085985 101086050 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101085987 101086053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101100001 104000000 Amplification Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chr8 101105386 101105488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1011336 1011713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 101145587 101158098 Amplification Prostate cancer aCGH 22341455 chr8 101162838 101166229 Amplification Prostate cancer aCGH 22341455 chr8 101163387 103693879 Amplification Cancer Affymetrix 250K Sty array 20164920 chr8 101170262 101254129 Amplification Prostate cancer aCGH 22341455 chr8 101214762 101226856 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101214835 101227252 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101214835 101227252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 101214835 101227252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101215206 101223555 Amplification T-cell lymphomas Array-CGH 22341440 chr8 101232014 101235406 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 101232015 101235017 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101232015 101235406 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101232015 101235406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 101232015 101235406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101232057 101235017 Amplification T-cell lymphomas Array-CGH 22341440 chr8 101239439 101323306 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101239439 101323306 Amplification T-cell lymphomas Array-CGH 22341440 chr8 101239439 101323306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 101239439 101323306 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101239439 101323306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101240272 101240379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101240273 101240377 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101240276 101240375 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101255861 101300564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 101266542 101266641 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101266542 101266642 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101266542 101266643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101269287 101322326 Amplification Prostate cancer aCGH 22341455 chr8 101279027 101431772 Gain and loss Barrett's syndrome BAC array 19417022 chr8 101279027 101431772 Gain and loss Esophageal adenocarcinoma BAC array 19417022 chr8 101338464 101391503 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101338464 101391503 Amplification T-cell lymphomas Array-CGH 22341440 chr8 101338464 101391503 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 101338464 101391503 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101338464 101391503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101338505 101341204 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 101341966 101342061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 101423650 101423750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 101451916 101452044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 101453001 103299900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 101508288 101508388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 101524368 101524468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 101532999 101572011 Amplification Prostate cancer aCGH 22341455 chr8 101561068 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 101585109 101661892 Amplification Prostate cancer aCGH 22341455 chr8 101591162 101641188 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 101591163 101641163 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101591981 101641188 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101591981 101641188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 101591981 101641188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101600000 106100000 Amplification Urothelial cell carcinoma FISH 18451213 chr8 101600000 106100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 101600000 106100000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 101600000 106100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 101600000 106100000 Gain Barrett's adenocarcinoma FISH 18663352 chr8 101600000 106100000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 101600000 106100000 Gain Multiple myeloma CGH, FISH 16461302 chr8 101600000 106100000 Gain Ovarian cancer Affymetrix 20844748 chr8 101600000 106200000 Amplification Colorectal cancer PCR 16912164 chr8 101600000 106200000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr8 101600000 106200000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 chr8 101600000 146364022 Gain Prostate cancer Array CGH 16573809 chr8 101602176 101641163 Amplification T-cell lymphomas Array-CGH 22341440 chr8 101654298 101731069 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 101654299 101731069 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101654299 101731069 Amplification T-cell lymphomas Array-CGH 22341440 chr8 101654299 101731069 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 101654299 101731069 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101654299 101731069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101679875 101680126 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 101715143 101734314 Amplification Prostate cancer aCGH 22341455 chr8 101764892 101764973 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101764892 101764973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101779643 101780643 Loss Renal cell carcinoma References 21215367 chr8 101784319 101804115 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101784320 101803491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 101784320 101803491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101784320 101804115 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101784583 101784632 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 101784646 101803470 Amplification T-cell lymphomas Array-CGH 22341440 chr8 101805541 101806541 Loss Renal cell carcinoma References 21215367 chr8 101809852 101809942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 101821206 101821331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101821210 101821331 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101821210 101821331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101836500 101836592 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101836500 101836599 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101836505 101836599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 10185168 10220341 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 10190000 10370000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr8 101913129 101913264 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101913132 101913264 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101913132 101913264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101930803 101965622 Amplification Prostate cancer aCGH 22341455 chr8 101936183 101961114 Gain Non-small cell lung cancer In situ minichips 20864512 chr8 101954348 101954448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 101977140 101977589 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101977140 101977589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 101977175 101977588 Gain and loss Pancreatic cancer SNP array 17952125 chr8 101999980 102034745 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 101999980 102034745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 101999980 102034745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102000089 102034745 Deletion Glioblastoma multiforme Human Genome CGH 244A microarray 22122801 chr8 102000089 102034745 Gain or loss Breast cancer - 20668451 chr8 102000089 102034745 Gain or loss Cancer - 20668451 chr8 102000089 102034745 Gain or loss Lung cancer - 20668451 chr8 102000089 102034745 Gain or loss Ovarian cancer - 20668451 chr8 102000089 102034745 Gain or loss Pancreas cancer - 20668451 chr8 102000089 102034745 Gain or loss Prostate cancer - 20668451 chr8 102000090 102034745 Amplification T-cell lymphomas Array-CGH 22341440 chr8 102000090 102034745 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102024188 102024288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102039287 102039582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102039330 102039584 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102039330 102039584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102044339 102044447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102044341 102044447 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102057367 102061693 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 102080889 102080973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1021055 1055449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 102110332 102348846 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 102116707 102116807 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102162540 102162619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102168426 102168513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102209265 102217959 Amplification Prostate cancer aCGH 22341455 chr8 102211034 102244557 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 102219363 102219596 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102219363 102219662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102219363 102219694 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102278441 102287136 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 102278444 102287136 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 102278444 102287136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 102278444 102287136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102278461 102287020 Amplification T-cell lymphomas Array-CGH 22341440 chr8 102278464 102287020 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102308288 102308381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102329783 102359585 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 10233348 10233448 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102349284 123541014 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 102357702 102358002 Gain Renal cell carcinoma References 21215367 chr8 102377349 103459228 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 102377349 104651521 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 102386364 102386464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102388772 102388832 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102450204 102451130 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102450296 102450999 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 102450297 102450999 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 102450297 102450999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102462104 102492830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 102479039 102479337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102479040 102479328 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102479040 102479328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1024893 1024993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102504667 102681953 Amplification Prostate cancer aCGH 22341455 chr8 102553234 102553324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102573843 102751128 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 102574162 102750995 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 102574162 102750995 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102574162 102750995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102595573 102595666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102600628 102600728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102619356 102619498 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102619356 102619498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102624645 102750995 Amplification T-cell lymphomas Array-CGH 22341440 chr8 102634362 104468714 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.1 ST arrays. 21853135 chr8 102646579 102646655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102668907 102981340 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-596K arrays 21546498 chr8 102677797 102677897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102683785 102695986 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 102683785 103275676 LOH Normal High-resolution SNP genotyping 21211785 chr8 102687696 102695986 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 102687696 102695986 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 102687696 103275676 LOH Normal High-resolution SNP genotyping 21211785 chr8 102689782 102694888 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 102690123 102695937 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 102695986 103275676 LOH Normal High-resolution SNP genotyping 21211785 chr8 102698769 103137134 Amplification Prostate cancer aCGH 22341455 chr8 102709507 102709619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102759517 102759607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102767945 103206311 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 102767947 103205665 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102767947 103206311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 102767947 103206311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 102767947 103206311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102768135 102872365 Amplification T-cell lymphomas Array-CGH 22341440 chr8 102800655 103493638 Gain Autism Exome sequencing and CGH 22495309 chr8 102803842 102803942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102825386 102825531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102835043 102835132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10285488 10285573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102928660 102928764 Gain and loss Pancreatic cancer SNP array 17952125 chr8 102928660 102928764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 102959041 102959100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 102986476 102987476 Gain Osteosarcoma References 21215367 chr8 103080535 103080614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10310074 11201017 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 103185573 103186573 Loss Osteosarcoma References 21215367 chr8 10319985 10320985 Gain Osteosarcoma References 21215367 chr8 103216728 103251345 Amplification Prostate cancer aCGH 22341455 chr8 10323367 12711879 Amplification Gastric cancer array CGH 21811585 chr8 103235263 103270465 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 103265568 103424494 Amplification Prostate cancer aCGH 22341455 chr8 103285906 103320522 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 103285907 103320522 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 103285908 103320522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 103285908 103320522 Amplification T-cell lymphomas Array-CGH 22341440 chr8 103285908 103320522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 103285908 103320522 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103285908 103320522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103299901 103552900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 103334744 103493671 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 103334744 103493671 Copy number Lung cancer - 20668451 chr8 103334744 103493671 Gain or loss Breast cancer - 20668451 chr8 103334744 103493671 Gain or loss Cancer - 20668451 chr8 103334744 103493671 Gain or loss Lung cancer - 20668451 chr8 103334744 103493671 Gain or loss Ovarian cancer - 20668451 chr8 103334744 103493671 Gain or loss Pancreas cancer - 20668451 chr8 103334744 103493671 Gain or loss Prostate cancer - 20668451 chr8 103334745 103493671 Amplification T-cell lymphomas Array-CGH 22341440 chr8 103334748 103493671 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 103334748 103493671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 103334748 103493671 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103334748 103493671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103375771 103375845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10337612 10337692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 103391032 103422906 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 103427743 104137348 Loss Normal 244K array 17666407 chr8 103469931 103470039 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103469931 103470039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103489656 104289922 Gain Bladder cancer array-CGH 21909424 chr8 103502601 103502724 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103502601 103502724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103502601 103502726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103533167 103533888 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 103533167 103533888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103543473 103543623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 103552901 104362500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 103563847 103573244 Amplification Prostate cancer aCGH 22341455 chr8 1035971 1036155 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 103614649 103614747 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103614649 103614747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103633036 103642422 Amplification T-cell lymphomas Array-CGH 22341440 chr8 103633042 103642422 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 103633042 103642422 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 103633042 103642422 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103633042 103642422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103661004 103667982 Amplification Prostate cancer aCGH 22341455 chr8 103668872 104209869 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 10367566 11254342 LOH Normal High-resolution SNP genotyping 21211785 chr8 10368586 10368675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 103701340 103701410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10371143 10371249 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10371143 10371249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103730189 103737127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 103730189 103737127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103730189 103737128 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 103730197 103737128 Amplification T-cell lymphomas Array-CGH 22341440 chr8 103730197 103737128 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1037503 1073930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 10383750 10384750 Gain Osteosarcoma References 21215367 chr8 103838535 103876396 Amplification Prostate cancer aCGH 22341455 chr8 103846695 103886282 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 10388325 10389325 Gain Osteosarcoma References 21215367 chr8 103888226 103891375 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103888246 103888783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103907711 103945573 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 103907711 103945573 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 103907712 103945573 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 103907712 103945573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 103907712 103945573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 103907809 103945575 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103909227 103945551 Amplification T-cell lymphomas Array-CGH 22341440 chr8 1039096 1039310 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 10391079 10392857 Gain and loss Pancreatic cancer SNP array 17952125 chr8 103976608 103977608 Loss Renal cell carcinoma References 21215367 chr8 103995618 103995718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 103999571 103999656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104000 47043000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr8 104018949 104019049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104031870 104031968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104031872 104031968 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104031875 104031968 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104033247 104085284 Amplification Prostate cancer aCGH 22341455 chr8 104041661 146264218 Gain Developmental delay affymetrix genechip 500K/SNP 6.35 array 21147756 chr8 104063945 104065771 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 104083344 104083689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1040838 1041145 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1040845 1041152 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 104088104 104088161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104098148 104098942 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104098523 104099523 Loss Renal cell carcinoma References 21215367 chr8 104102423 104154461 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 104102424 104154461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 104102424 104154461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104102445 104154460 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 104102467 104154453 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104102487 104150969 Amplification T-cell lymphomas Array-CGH 22341440 chr8 10412501 10505500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 104148224 123842015 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 104149665 104150665 Gain Renal cell carcinoma References 21215367 chr8 104152920 104242532 Amplification Prostate cancer aCGH 22341455 chr8 10416024 10417024 Gain Osteosarcoma References 21215367 chr8 104164087 104164157 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104164087 104164157 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104165042 104165110 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104165042 104165110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104166985 104167053 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104166985 104167053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104168000 104168064 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104168000 104168064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104168444 104168513 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104168444 104168513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104169815 104169881 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104169815 104169881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104169953 104170026 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104169953 104170026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104170060 104170120 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104170060 104170120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104170128 104170192 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104170128 104170192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104172525 104172592 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104172525 104172592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104172598 104172666 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104172598 104172666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104175931 104176018 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104175931 104176018 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 10420491 10433738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 10420491 10433738 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10420491 10433738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104214368 104222746 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104217998 104218098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104222096 104311709 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 104222097 104311706 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 104222097 104311706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 104222097 104311706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104222117 104311708 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104222119 104311708 Amplification T-cell lymphomas Array-CGH 22341440 chr8 10422441 10423441 Gain Osteosarcoma References 21215367 chr8 104247333 104380152 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 104247333 104380152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 104247333 104380152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104256337 104256437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10428128 10428228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104298408 105180676 LOH Normal High-resolution SNP genotyping 21211785 chr8 104310660 104345093 Amplification Prostate cancer aCGH 22341455 chr8 104322458 105764013 LOH Normal High-resolution SNP genotyping 21211785 chr8 104327405 104327505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104331455 104332455 Gain Renal cell carcinoma References 21215367 chr8 104334681 105433770 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 10433882 11368605 LOH Normal High-resolution SNP genotyping 21211785 chr8 104362501 105323900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 104371048 104371136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104372975 104373075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104379842 104414270 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 104379842 104414270 Gain or loss Breast cancer - 20668451 chr8 104379842 104414270 Gain or loss Cancer - 20668451 chr8 104379842 104414270 Gain or loss Lung cancer - 20668451 chr8 104379842 104414270 Gain or loss Ovarian cancer - 20668451 chr8 104379842 104414270 Gain or loss Pancreas cancer - 20668451 chr8 104379842 104414270 Gain or loss Prostate cancer - 20668451 chr8 104379843 104414263 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104380276 104414263 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 104380276 104414263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 104380276 104414263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104380276 104414270 Amplification T-cell lymphomas Array-CGH 22341440 chr8 104383785 104395216 Amplification Prostate cancer aCGH 22341455 chr8 104403961 104404047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104410865 104427467 Amplification Prostate cancer aCGH 22341455 chr8 104414260 104414326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104426941 104455680 Amplification Prostate cancer aCGH 22341455 chr8 104441333 133318025 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 104451635 104607137 Loss Autism qPCR 20531469 chr8 104452919 104464397 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 104452919 104464397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 104452919 104464397 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104452919 104464397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104452961 104464393 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 104452962 104464393 Amplification T-cell lymphomas Array-CGH 22341440 chr8 104456656 104457656 Gain Renal cell carcinoma References 21215367 chr8 104466365 104466471 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104466365 104466471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104472310 104472460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104473220 105045989 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.2 ST arrays. 21853135 chr8 104480041 104496447 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 104480043 104496447 Amplification T-cell lymphomas Array-CGH 22341440 chr8 104480043 104496447 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104480045 104496447 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 104480045 104496447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 104480045 104496447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104496117 104524376 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 104496117 104524376 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 104496118 104524376 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 104496118 104524376 Amplification T-cell lymphomas Array-CGH 22341440 chr8 104496118 104524376 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104496395 104524854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 104496395 104524854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104508082 136809150 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 chr8 104512975 105265450 Amplification Prostate cancer aCGH 22341455 chr8 104514444 104514532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104582151 105334627 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 104582291 105333224 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104582291 105333263 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 104582291 105333263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104602808 104602905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104651664 104655831 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 104684001 104684101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104726077 104726157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104733104 105127864 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 104740627 104741715 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104746699 104746797 Gain and loss Pancreatic cancer SNP array 17952125 chr8 104746699 104746797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104786481 106658710 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 104795379 104795479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10480000 18870000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 chr8 104819638 104819737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104849685 104850433 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10486257 10486357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 104919780 104920780 Loss Renal cell carcinoma References 21215367 chr8 10493176 10494176 Loss Osteosarcoma References 21215367 chr8 104933003 104933092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 104954123 143902698 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 104975558 104981873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 104994345 104994445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 105000000 145900000 Amplification Breast cancer aCGH 21509527 chr8 10501269 10607107 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 10501269 10607107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105014682 105014755 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 105019927 105020027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 105045989 106820189 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.3 ST arrays. 21853135 chr8 10505501 10508000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 105056878 105071181 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 10508001 10630000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 10511353 10511405 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr8 105114218 105114280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 105146754 105148665 Loss Normal 244K array 17666407 chr8 10516633 10550027 Gain and loss Pancreatic cancer SNP array 17952125 chr8 105169495 105195167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 105177490 105254527 Gain Stenocardia MACArray Karyo 38K BAC-chips 21860640 chr8 105177490 105254527 Gain Vasospasm MACArray Karyo 38K BAC-chips 21860640 chr8 10519946 10520044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10528643 10528743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 105320589 105320689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 105323901 105576900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 105332149 105364101 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 105352053 105368915 Amplification Prostate cancer aCGH 22341455 chr8 105378279 114118249 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 105391651 105479276 Amplification Prostate cancer aCGH 22341455 chr8 105421228 105438092 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 105421228 105438092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 105421228 105438092 Gain and loss Pancreatic cancer SNP array 17952125 chr8 105421228 105438092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105421230 105438092 Amplification T-cell lymphomas Array-CGH 22341440 chr8 105460827 105548453 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 105460829 105548453 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 105460829 105548453 Amplification T-cell lymphomas Array-CGH 22341440 chr8 105460829 105548453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 105460829 105548453 Gain and loss Pancreatic cancer SNP array 17952125 chr8 105460829 105548453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105462904 105463585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105496233 105526197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 105501458 105601251 Amplification Prostate cancer aCGH 22341455 chr8 105501897 105502308 Gain and loss Pancreatic cancer SNP array 17952125 chr8 105501897 105502308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105506763 105506842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105516857 105516950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105565773 105565869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105570640 105670344 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 105570643 105670327 Gain and loss Pancreatic cancer SNP array 17952125 chr8 105570643 105670344 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 105570643 105670344 Amplification T-cell lymphomas Array-CGH 22341440 chr8 105570643 105670344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 105570643 105670344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105576901 105728700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 105616037 105616137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10567557 10595513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 10567557 10595513 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10567557 10595513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105715996 106338371 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 105728701 105981700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 105748022 105749022 Gain Osteosarcoma References 21215367 chr8 10581489 10581601 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10581489 10581607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 105815887 105815958 Gain and loss Pancreatic cancer SNP array 17952125 chr8 105833168 105833239 Gain and loss Pancreatic cancer SNP array 17952125 chr8 105880441 106922626 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 chr8 105899130 105899230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 105900247 105900473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 105918000 105962918 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 105950582 106663366 LOH Normal High-resolution SNP genotyping 21211785 chr8 105981701 111269400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 105993660 105993760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106042706 110297550 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 106086 107024 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 106086 107024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 106100000 110600000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr8 106100000 110600000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 chr8 106100000 110600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 106100000 110600000 Translocation Breast cancer transcriptome sequencing 19181860 chr8 106126423 106126523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10618687 10625432 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 10618687 10625432 Gain or loss Breast cancer - 20668451 chr8 10618687 10625432 Gain or loss Cancer - 20668451 chr8 10618687 10625432 Gain or loss Lung cancer - 20668451 chr8 10618687 10625432 Gain or loss Ovarian cancer - 20668451 chr8 10618687 10625432 Gain or loss Pancreas cancer - 20668451 chr8 10618687 10625432 Gain or loss Prostate cancer - 20668451 chr8 10618688 10625432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 10618688 10625432 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10618688 10625432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 106200000 146364022 Gain Non-small cell lung cancer FISH 19010865 chr8 10621584 10621884 Loss Renal cell carcinoma References 21215367 chr8 106250572 106250899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 10626797 10627797 Gain Osteosarcoma References 21215367 chr8 10627693 10628693 Gain Osteosarcoma References 21215367 chr8 10630023 10630323 Loss Osteosarcoma References 21215367 chr8 106331146 106816766 Amplification Prostate cancer aCGH 22341455 chr8 106338180 106658710 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 106400322 106885943 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 106400323 106885939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 106400323 106885939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 106400323 106885943 Amplification T-cell lymphomas Array-CGH 22341440 chr8 106407566 106407666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10648768 10649068 Gain Renal cell carcinoma References 21215367 chr8 106499975 106885939 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 106500550 106884942 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10653990 10729568 Loss Autism qPCR, Illumina1M 20531469 chr8 10659885 10734796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 10659885 10734796 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10659885 10734796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 106599188 106599278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106605744 106605844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106648827 106649800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 106664280 106664521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106664403 106664516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106664531 106664739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106666089 106666147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106678810 106678960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106724243 106724275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106739695 106740014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 106771001 106774700 Deletion Glioma mate-paired sequence 20126413 chr8 106772625 106772950 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 106800200 107511467 Deletion Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 chr8 106841930 106842010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106848265 106848565 Loss Renal cell carcinoma References 21215367 chr8 106849700 106850700 Loss Renal cell carcinoma References 21215367 chr8 106849803 106850803 Loss Renal cell carcinoma References 21215367 chr8 106857794 106891227 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 106865708 106866481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 106920577 106920746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106920731 106920871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106924563 106924609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 106983757 107018449 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 10699965 10711877 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 107010530 107010642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 107010532 107010638 Gain and loss Pancreatic cancer SNP array 17952125 chr8 107010532 107010642 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10705175 10726407 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 10709928 10710002 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107101412 107101512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10712705 10713005 Loss Renal cell carcinoma References 21215367 chr8 107159170 107159254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107207674 107207890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107207779 107207879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107207877 107208115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107207899 107207999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107236371 107270550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 107241060 107684658 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 107241060 109197022 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 107254408 107254508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10727886 10728186 Gain Renal cell carcinoma References 21215367 chr8 107282472 107764921 Amplification Prostate cancer aCGH 22341455 chr8 10728499 10728626 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 107297169 107298682 Gain and loss Pancreatic cancer SNP array 17952125 chr8 107297169 107298682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 107303392 107305135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 107351648 107834097 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 107351648 107834097 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 107367619 107367887 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 107376988 107921988 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr8 107406351 107406451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10744818 10744850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107452594 107452694 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107465111 107465268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107551548 107551612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107554683 107554783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107580270 107580594 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 107580735 107580825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107614913 107615013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107640834 107661306 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 107699530 107833044 Gain and loss Pancreatic cancer SNP array 17952125 chr8 107707708 107708178 Loss Normal 244K array 17666407 chr8 107713268 107758074 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 107739270 107832862 Amplification T-cell lymphomas Array-CGH 22341440 chr8 107739270 107834093 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 107739270 107834093 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 107739270 107834093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 107771710 107782471 Amplification Prostate cancer aCGH 22341455 chr8 107790292 108024735 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 107797732 107798061 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 107811199 107811261 Gain and loss Pancreatic cancer SNP array 17952125 chr8 107840886 107851648 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 107840888 107851648 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 107840888 107851648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 107840888 107851648 Gain and loss Pancreatic cancer SNP array 17952125 chr8 107840888 107851648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 107842321 107851649 Amplification T-cell lymphomas Array-CGH 22341440 chr8 1078619 1078719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 107903684 107903784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10791073 10897401 Gain and loss Pancreatic cancer SNP array 17952125 chr8 10791075 11096258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 10791075 11096258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 107926505 107931335 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 107927695 107931446 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 107954682 107954755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10798580 10798650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108010911 108011011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108012320 108012420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10808001 10817500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 10810156 10845697 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 10811845 11770357 Amplification Gastric cancer array CGH 21811585 chr8 10817501 10824000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 108178390 108178478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108189392 108189713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 108204193 108205764 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 108247116 108248116 Loss Renal cell carcinoma References 21215367 chr8 108254706 108255213 Gain and loss Pancreatic cancer SNP array 17952125 chr8 108254706 108255213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 108261709 108510253 Amplification Prostate cancer aCGH 22341455 chr8 108273502 108376513 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 108290951 108537084 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 108290951 108537084 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 108330885 108579430 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 108330886 108579430 Amplification T-cell lymphomas Array-CGH 22341440 chr8 108330899 108579459 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 108330899 108579459 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 108330899 108579459 Gain and loss Pancreatic cancer SNP array 17952125 chr8 108330899 108579459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 108335811 108335902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 10834501 10836500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 108360849 108360914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10836501 10981000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 108384009 108384103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108442915 108443034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 108449855 108450254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 108470273 108470305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108502241 108502341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108564648 108709208 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr8 108573876 108575811 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 108573876 108575811 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 108573995 108575539 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 108625419 108698271 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 10869550 10869850 Gain Renal cell carcinoma References 21215367 chr8 108696331 108696431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108703107 146274826 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 108737369 108767586 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 108804429 108804529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108850433 108851758 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 108850433 108851758 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 108850589 108851587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 108858715 108858815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 108886771 108887771 Gain Renal cell carcinoma References 21215367 chr8 108906676 108907676 Loss Renal cell carcinoma References 21215367 chr8 108911543 109095912 Amplification Prostate cancer aCGH 22341455 chr8 108965898 108966015 Gain and loss Pancreatic cancer SNP array 17952125 chr8 108965898 108966015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 108965898 108966016 Gain and loss Pancreatic cancer SNP array 17952125 chr8 108980719 109164742 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 108980719 109164742 Insertion Normal References 22138850 chr8 108980720 109164742 Amplification T-cell lymphomas Array-CGH 22341440 chr8 108980721 109165052 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 108980721 109165052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 108980721 109165052 Gain and loss Pancreatic cancer SNP array 17952125 chr8 108980721 109165052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 10900000 146274826 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr8 109073814 109074814 Loss Renal cell carcinoma References 21215367 chr8 109122838 109845627 LOH Normal High-resolution SNP genotyping 21211785 chr8 10913060 10913109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 109148076 109148176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 109149052 109149148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 109168509 109186351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 109172198 109180334 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 109172224 109180432 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 109196607 109794970 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 10920388 10921388 Gain Osteosarcoma References 21215367 chr8 109212504 109213518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 109213971 109260958 Amplification Prostate cancer aCGH 22341455 chr8 109245804 109245848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 10925607 10926607 Loss Osteosarcoma References 21215367 chr8 10926859 10926936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 109283148 109330127 Gain and loss Pancreatic cancer SNP array 17952125 chr8 109283148 109330128 Amplification T-cell lymphomas Array-CGH 22341440 chr8 109283148 109330135 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 109283149 109330135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 109283162 109330170 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 10930126 10930222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 109305127 109307333 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 109373755 109373838 Gain and loss Pancreatic cancer SNP array 17952125 chr8 109373755 109373838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 109455852 109499135 Amplification Prostate cancer aCGH 22341455 chr8 10946603 11174014 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 109525028 109568312 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 109525029 109568311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 109525029 109568311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 109525029 109568311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 109525029 109568312 Amplification T-cell lymphomas Array-CGH 22341440 chr8 109525029 109568312 Gain and loss Pancreatic cancer SNP array 17952125 chr8 109534410 109534510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 109573751 109573859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 109574950 110915943 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.4 ST arrays. 21853135 chr8 109600000 180915260 Gain Renal cell carcinoma FISH 19377443 chr8 109609667 109609767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 109661502 109661602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 109688255 109868946 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 109694614 109694914 Gain Renal cell carcinoma References 21215367 chr8 109706119 120929916 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr8 109716933 109717033 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 109752178 109752796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 109759771 109760771 Loss Renal cell carcinoma References 21215367 chr8 109795345 109799769 Amplification Prostate cancer aCGH 22341455 chr8 109799338 109799662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 109801602 110830795 LOH Normal High-resolution SNP genotyping 21211785 chr8 109864522 109868946 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 109864522 109868946 Amplification T-cell lymphomas Array-CGH 22341440 chr8 109864522 109868946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 109864522 109868946 Gain and loss Pancreatic cancer SNP array 17952125 chr8 109864522 109868946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 109935574 111116845 LOH Normal High-resolution SNP genotyping 21211785 chr8 109935574 111118816 LOH Normal High-resolution SNP genotyping 21211785 chr8 110000 5150000 Deletion Ductal carcinoma SNP array 22052326 chr8 110028461 110028787 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11003096 11003386 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110099675 110131812 Amplification Prostate cancer aCGH 22341455 chr8 110101387 110101565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110101595 110101787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110118303 110118335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110122659 112477318 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 110168900 110200989 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 110168900 110200989 Amplification T-cell lymphomas Array-CGH 22341440 chr8 110168900 110200989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 110168900 110200989 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110168900 110200989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 110168901 110200988 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 110168901 110200988 Gain or loss Breast cancer - 20668451 chr8 110168901 110200988 Gain or loss Cancer - 20668451 chr8 110168901 110200988 Gain or loss Lung cancer - 20668451 chr8 110168901 110200988 Gain or loss Ovarian cancer - 20668451 chr8 110168901 110200988 Gain or loss Pancreas cancer - 20668451 chr8 110168901 110200988 Gain or loss Prostate cancer - 20668451 chr8 110183787 110184787 Gain Renal cell carcinoma References 21215367 chr8 11018707 11019012 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110192814 110192908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11021390 11025155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11021390 11025155 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11021390 11025155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 110250426 110250521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110253147 110346349 Amplification Prostate cancer aCGH 22341455 chr8 110297550 110611666 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 110303896 110304228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 110322323 110415526 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 110322325 110415491 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 110322325 110415491 Amplification T-cell lymphomas Array-CGH 22341440 chr8 110322325 110415491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 110322325 110415491 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110322325 110415491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11032417 11032701 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110346551 110358188 Amplification Prostate cancer aCGH 22341455 chr8 110349299 110349519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110349315 110349415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110370676 110370860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110370778 110370878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110370876 110370976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110370896 110371077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110371870 110917122 LOH Normal High-resolution SNP genotyping 21211785 chr8 110374705 110543499 Amplification Prostate cancer aCGH 22341455 chr8 110378286 110413580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11038170 11038258 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11038170 11038258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 110397160 110399175 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 110415728 110427364 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 110415731 110427358 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110415746 110425074 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 110415751 110425087 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 110415751 110425087 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 110415764 110425074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 110415812 110425087 Amplification T-cell lymphomas Array-CGH 22341440 chr8 110443881 110612676 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 110443882 110611740 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 110443882 110611740 Amplification T-cell lymphomas Array-CGH 22341440 chr8 110443882 110612676 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 110443882 110612676 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 110470488 110470588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11048140 11048236 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 110530694 110736556 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 110551928 110577391 Amplification Prostate cancer aCGH 22341455 chr8 110579484 110579805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 110586404 110704019 Amplification Prostate cancer aCGH 22341455 chr8 1 105900459 Gain Wilms tumour 250K Genotyping Arrays 21544195 chr8 110600000 112200000 Gain Barrett's adenocarcinoma FISH 18663352 chr8 110611666 116579870 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 1 106200000 Gain Gastric cancer 5K BAC array CGH 17908304 chr8 110621104 110646567 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 110621104 110646567 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 110621105 110646563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 110621105 110646563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 110621105 110646568 Amplification T-cell lymphomas Array-CGH 22341440 chr8 110621105 110647393 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110621105 110647397 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 110655580 110773196 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 110655581 110700445 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110655587 110773009 Amplification T-cell lymphomas Array-CGH 22341440 chr8 110655593 110733798 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 110655593 110733798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 110655593 110733798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11069964 11070471 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110717338 110717438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11073518 11073632 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 110751531 110751631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110760290 110760390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110825852 110825952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110830795 112264094 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 110839469 111750836 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 11089392 11096258 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11095001 11097000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 110955235 110955420 Gain and loss Pancreatic cancer SNP array 17952125 chr8 110955243 110955423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 110955334 110955423 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11096606 11096706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 110979232 110986958 Amplification Prostate cancer aCGH 22341455 chr8 111018129 111018214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11104659 11105659 Gain Osteosarcoma References 21215367 chr8 111047319 111092366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 111048408 111057252 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 111048411 111056135 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 111048411 111056135 Amplification T-cell lymphomas Array-CGH 22341440 chr8 111048411 111056135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 111048411 111056135 Gain and loss Pancreatic cancer SNP array 17952125 chr8 111048411 111056135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 111072918 111073018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111116845 112731724 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 111116845 112731724 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 11113739 11113844 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 111149772 112653733 LOH Normal High-resolution SNP genotyping 21211785 chr8 11115284 11116284 Gain Osteosarcoma References 21215367 chr8 111186947 111187369 Gain and loss Pancreatic cancer SNP array 17952125 chr8 111209464 111210464 Loss Renal cell carcinoma References 21215367 chr8 111269401 112458500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 111417307 112685045 LOH Normal High-resolution SNP genotyping 21211785 chr8 111417307 114918582 LOH Normal High-resolution SNP genotyping 21211785 chr8 11142545 11162784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11142546 11142632 Gain and loss Pancreatic cancer SNP array 17952125 chr8 111448694 111448767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111470678 111470768 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111483905 111511223 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 111489411 111520349 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 111489411 111524781 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 1 1151070 LOH Normal High-resolution SNP genotyping 21211785 chr8 111548781 111548881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111555645 111555745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111563457 111569408 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 111565576 111565676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111596621 111596721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111637146 111637221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111644171 111644271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 111740331 146133884 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 1 117700000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr8 11178927 11179289 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11179001 11180000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 11179410 11223062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11179410 11223062 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11179410 11223062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1118097 1118174 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1118283 1118556 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1118283 1118595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 111846946 111863177 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 111886767 112158168 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 111927907 111927995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11194831 11194931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 112015954 112016019 Gain and loss Pancreatic cancer SNP array 17952125 chr8 112015954 112016019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 112016133 112016204 Gain and loss Pancreatic cancer SNP array 17952125 chr8 112016133 112016204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 112016207 112016274 Gain and loss Pancreatic cancer SNP array 17952125 chr8 112016207 112016274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 112016284 112016351 Gain and loss Pancreatic cancer SNP array 17952125 chr8 112016284 112016351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 112064480 112212410 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 112068014 114055290 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 112100000 117700000 Copy number Neuroticism SNP array 17667963 chr8 112100000 146364022 Amplification Papillary thyroid cancer BAC ARRAY-BASED CGH 17515504 chr8 112100000 146364022 Gain Basal cell lymphoma 10k and 50k Affymetrix SNP arrays 17053054 chr8 112100000 146364022 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 112118351 112135976 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 112125266 112125366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 112130423 112130723 Loss Renal cell carcinoma References 21215367 chr8 112152010 112152110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 112200000 117700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 112200000 117700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 112200000 131500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 112203634 112226716 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 112220828 112256091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 112237402 112237754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 112240901 112242561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 112241020 116728648 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 11224501 11227000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 11225905 11227105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11225905 11227105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11226026 11227042 Gain and loss Pancreatic cancer SNP array 17952125 chr8 112279993 112280093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 112326380 112326480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11234597 11263371 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 11234597 11263371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11234597 11263371 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11234597 11263371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 112346098 112364424 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 112346110 112364436 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 112354518 112363455 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 112360671 112369456 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 112361401 112368200 Deletion Glioma mate-paired sequence 20126413 chr8 112363228 112366315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 112363268 112366846 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 112363443 112364424 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 112363455 112364436 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 112363455 112364436 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 112363455 112372497 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 112364436 112370428 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 11239955 11240955 Gain Renal cell carcinoma References 21215367 chr8 112404217 112532873 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 112409593 112491933 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 112487352 112525173 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11252027 11253027 Gain Renal cell carcinoma References 21215367 chr8 112530420 146263538 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 112532873 112584436 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 112539264 112540264 Gain Renal cell carcinoma References 21215367 chr8 112586492 112586592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11263321 11333576 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 11263321 11333576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11265770 11266682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 112681166 114511792 LOH Normal High-resolution SNP genotyping 21211785 chr8 11269759 11270759 Loss Renal cell carcinoma References 21215367 chr8 1 12700000 Copy number Chronic obstructive pulmonary disease ABI 7500 system qPCR 20378733 chr8 1 12700000 Copy number Crohn's disease References 19220326 chr8 1 12700000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr8 1 12700000 Copy number Prostate cancer PCR 18515986 chr8 1 12700000 Copy number Psoriasis References 19220326 chr8 1 12700000 Deletion Schizophrenia FISH 20877625 chr8 1 12700000 Gain Autism References 18414403 chr8 1 12700000 Gain Cancer array-based techniques 21183584 chr8 1 12700000 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 1 12700000 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss qPCR and chromosome banding 20606397 chr8 1 12700000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr8 1 12700000 Loss Cervical cancer array CGH and SNP array 17311676 chr8 1 12700000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 1 12700000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 chr8 1 12700000 Loss Ovarian cancer Affymetrix 20844748 chr8 11271992 11272081 Gain Normal 244K array 17666407 chr8 11272218 11284367 Loss Normal 244K array 17666407 chr8 11273808 11284541 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 11274314 11274551 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11274314 11274551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 112775146 112775246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 112787036 112791072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 112798992 113925321 LOH Normal High-resolution SNP genotyping 21211785 chr8 11282969 11284617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 112872460 112909812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11287330 11287436 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11287330 11287436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11287331 11287436 Gain and loss Pancreatic cancer SNP array 17952125 chr8 112934108 112978819 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11294662 11295662 Gain Renal cell carcinoma References 21215367 chr8 112965276 115531385 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 11303277 11304277 Loss Renal cell carcinoma References 21215367 chr8 11306501 11329000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 113110241 113110336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 113129034 113129121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 113136532 113171108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 113147787 113158506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 113154600 113154929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11316382 11361663 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11316382 11361686 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 11316391 11361663 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11316391 11361663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11316391 11369636 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 113173001 113174500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 11318167 11319167 Gain Renal cell carcinoma References 21215367 chr8 113189508 113189608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11322968 11323053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 113230091 113230230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 113230096 113230230 Gain and loss Pancreatic cancer SNP array 17952125 chr8 113235156 114449241 Amplification Prostate cancer aCGH 22341455 chr8 11325275 11326275 Gain Renal cell carcinoma References 21215367 chr8 113280421 113280501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11328193 12314084 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 113288783 113333754 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 11329001 11363500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 11329042 11329342 Loss Renal cell carcinoma References 21215367 chr8 113292287 113292387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 113295025 113295367 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11329985 11333461 Gain and loss Pancreatic cancer SNP array 17952125 chr8 113304332 114518418 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 113304337 114518418 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 113304337 114518418 Amplification T-cell lymphomas Array-CGH 22341440 chr8 113304337 114518418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 113304337 114518418 Gain and loss Pancreatic cancer SNP array 17952125 chr8 113304337 114518418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11330938 11331238 Loss Renal cell carcinoma References 21215367 chr8 113344561 113344645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11334999 11335999 Gain Renal cell carcinoma References 21215367 chr8 113367069 116023248 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 113406702 113406782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11342940 11343940 Gain Osteosarcoma References 21215367 chr8 113458294 113458394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11346688 11659701 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr8 113472579 115477857 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 11361343 11361403 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11363501 11441500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 113645282 113645381 Gain and loss Pancreatic cancer SNP array 17952125 chr8 113645282 113645381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 113712341 114982406 LOH Normal High-resolution SNP genotyping 21211785 chr8 113718432 114982406 LOH Normal High-resolution SNP genotyping 21211785 chr8 11373083 11434911 Deletion Dyslexia Array CGH 22102821 chr8 11373403 11373553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 113847631 113847721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 113856216 113856316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 113869655 113869704 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 11388930 11459516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11388930 11459516 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11388930 11459516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 113915406 113915665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 113931988 113932088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1 140000000 Deletion Medulloblastoma SNP arrays 21979893 chr8 114008570 114009570 Loss Renal cell carcinoma References 21215367 chr8 114030471 114946955 LOH Normal High-resolution SNP genotyping 21211785 chr8 114031134 115771855 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 114039020 115169741 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 114055456 114088675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 114108923 114108962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114109642 114115943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 114125669 114127948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 114125735 114127903 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 114129824 114881166 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 114142324 115330310 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 114147202 114148202 Gain Renal cell carcinoma References 21215367 chr8 114148247 114629553 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 114153912 114154001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114160908 114189441 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 114188064 114190161 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 114199263 114199325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11427866 11427966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11434544 11434629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1143919 1144077 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chr8 11441501 11462000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 114423027 115842449 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 11444545 11444645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114488932 114488999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 114499610 114499706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114608976 114612964 Loss Normal 244K array 17666407 chr8 114611079 114611179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11462001 11596500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 1 146274826 Deletion Autism - 19415332 chr8 1 146274826 Deletion,duplication Normal Affymetrix 250K SNP array 21412953 chr8 1 146274826 Deletion Medulloblastoma SNP arrays 21979893 chr8 1 146274826 Gain Ewing's sarcoma CGH(Reference) 21437220 chr8 1 146274826 Gain Ewing's sarcoma Karyotyping, CGH and FISH(Reference) 21437220 chr8 1 146274826 Gain Medulloblastoma SNP arrays 21979893 chr8 1 146274826 Gain Normal - 21541734 chr8 1 146274826 Indels Malaria PCR,Delta Delta Ct 21533027 chr8 1 146274826 Indels Normal Affymetrix 6.0 array 21223598 chr8 1 146274826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1 146308819 Deletion Esophageal cancer affymetrix genechip human mapping 272K Nsp arrays 21851588 chr8 1 146364022 Gain Gastric cancer 5K BAC array CGH 17908304 chr8 1 146364022 Tri Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 chr8 114644879 115391133 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 11469184 11470184 Gain Osteosarcoma References 21215367 chr8 114714001 114715500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 114714323 114745612 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11471453 11476259 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11471453 11476259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 114741393 114741566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114741565 114741665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114741575 114741757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114778480 114823246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 114792806 114792926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114792971 114793135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114812334 114812419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114839916 116228769 LOH Normal High-resolution SNP genotyping 21211785 chr8 114879529 114899910 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 114884830 114884930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114912222 114949817 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 114931797 114931927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 114972196 114972296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 114975779 115522831 LOH Normal High-resolution SNP genotyping 21211785 chr8 114981998 114982706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 114982031 114982439 Loss Normal 244K array 17666407 chr8 115003569 115003858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 115032291 115032401 Gain and loss Pancreatic cancer SNP array 17952125 chr8 115032291 115032403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 115073819 115708213 LOH Normal High-resolution SNP genotyping 21211785 chr8 115084669 116220981 LOH Normal High-resolution SNP genotyping 21211785 chr8 115115068 115116068 Loss Renal cell carcinoma References 21215367 chr8 115140834 115140934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115146601 115151400 Deletion Glioma mate-paired sequence 20126413 chr8 115148490 115149846 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 115148490 115149847 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 115148622 115149858 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 115165252 115326300 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 115182695 115182845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115209623 115210623 Gain Renal cell carcinoma References 21215367 chr8 115260736 116468091 LOH Normal High-resolution SNP genotyping 21211785 chr8 115307371 115307471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11532313 11532692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 115335235 119231130 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 115351618 115731259 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chr8 115351618 115731259 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr8 115351618 116782788 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr8 115353479 115353573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115376849 115378072 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 11538365 11538459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115388262 115425360 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 115435073 115511898 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 115450225 115450320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115477857 116204407 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 115522831 116179116 LOH Normal High-resolution SNP genotyping 21211785 chr8 115540719 115540819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115670952 115858530 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 11567818 11567857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115687195 115721419 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 115688098 115688156 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 115696986 115737714 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 115700470 115703663 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 115703066 115712529 Gain Normal 244K array 17666407 chr8 115703652 115719860 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 115703663 115710907 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 115710907 115723944 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 11571876 11654918 Copy number Gastric cancer Human cDNA microarrays 17229543 chr8 11571876 11654918 Deletion Disorders of sex development - 22290220 chr8 11575198 11610054 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 115818013 115979174 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 115827888 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 115881551 115881771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115945868 116017817 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr8 11595592 11595892 Loss Osteosarcoma References 21215367 chr8 1159561 1159711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 115957037 115957315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11596501 11605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 115972499 116848719 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 115981041 118179836 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr8 11599125 11654918 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 11599162 11654918 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11599162 11654918 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11599162 11654918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11601566 11610455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11605501 12339500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 116064462 116064511 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 116070266 116070306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116079356 116790236 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 116096749 116096849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116125857 116125957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116155327 116156190 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 116186189 120600761 Amplification Cancer Affymetrix 250K Sty array 20164920 chr8 116188868 116189868 Gain Renal cell carcinoma References 21215367 chr8 116193675 116194675 Gain Renal cell carcinoma References 21215367 chr8 11625722 11626722 Loss Osteosarcoma References 21215367 chr8 11627133 11628133 Loss Osteosarcoma References 21215367 chr8 116275853 116276853 Gain Renal cell carcinoma References 21215367 chr8 116301342 116301399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116307276 116326999 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 116315947 116316247 Gain Renal cell carcinoma References 21215367 chr8 116317000 116317045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116318356 116318456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116325324 116326324 Gain Renal cell carcinoma References 21215367 chr8 11634339 11634675 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 116356139 116356439 Loss Renal cell carcinoma References 21215367 chr8 116356805 116357805 Gain Renal cell carcinoma References 21215367 chr8 116359919 116360919 Loss Renal cell carcinoma References 21215367 chr8 116366476 129491262 Gain Breast cancer 244K CGH oligonucleotide microarrays 20932292 chr8 116377775 116378775 Loss Renal cell carcinoma References 21215367 chr8 116420723 116681227 Amplification Prostate cancer aCGH 22341455 chr8 116489899 116750402 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 116489900 116750429 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 116489900 116750429 Amplification T-cell lymphomas Array-CGH 22341440 chr8 116489900 116750429 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 116489900 116750429 Gain and loss Pancreatic cancer SNP array 17952125 chr8 116489900 116750429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 116499605 117029302 LOH Normal High-resolution SNP genotyping 21211785 chr8 116513427 116606233 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 116552846 116634665 Deletion Breast cancer Illumina 1M duo array 20393555 chr8 116557393 116557721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11656174 11658141 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11659702 11694481 Duplication Honadal dysgenesis Affymetrix Genome-Wide Human SNP Array 6.0 21408189 chr8 116603455 119961194 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 11664627 11682263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11664627 11682263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11664654 11682263 Gain or loss Breast cancer - 20668451 chr8 11664654 11682263 Gain or loss Cancer - 20668451 chr8 11664654 11682263 Gain or loss Lung cancer - 20668451 chr8 11664654 11682263 Gain or loss Ovarian cancer - 20668451 chr8 11664654 11682263 Gain or loss Pancreas cancer - 20668451 chr8 11664654 11682263 Gain or loss Prostate cancer - 20668451 chr8 11664666 11682263 Gain and loss Pancreatic cancer SNP array 17952125 chr8 116652218 116652318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116689947 116690360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 116699969 117437952 LOH Normal High-resolution SNP genotyping 21211785 chr8 116699969 117529140 LOH Normal High-resolution SNP genotyping 21211785 chr8 116699969 117531930 LOH Normal High-resolution SNP genotyping 21211785 chr8 1 16700000 Loss Disorders of sex development oligo V6.2 21048976 chr8 116728849 116728898 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 11675310 11675498 Gain and loss Pancreatic cancer SNP array 17952125 chr8 116778607 116778673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116799741 116799836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116809176 116853960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 116816824 116816856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116844173 116844259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11684923 11685306 Gain and loss Pancreatic cancer SNP array 17952125 chr8 116851661 116851710 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 11685402 13042444 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 116889601 116889701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116893986 119207022 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 116894719 118410001 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 116910190 116910289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 116928418 117487129 LOH Normal High-resolution SNP genotyping 21211785 chr8 116949506 116949860 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 116967502 117250765 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 11697599 11734226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11697599 11734226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11697664 11734215 Gain and loss Pancreatic cancer SNP array 17952125 chr8 116978200 116978260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117049834 117049902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 117104088 117104189 Gain and loss Pancreatic cancer SNP array 17952125 chr8 117104089 117104182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 117104104 117104193 Gain and loss Pancreatic cancer SNP array 17952125 chr8 117142151 117142231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117154779 117154879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117168093 117168207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 117214522 117214622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117218176 117218317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 117265501 118657000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 117312266 117312366 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117368520 117368620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11737442 11763055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11737442 11763055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 117386160 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 11739236 11763044 Gain and loss Pancreatic cancer SNP array 17952125 chr8 117415432 117415532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117422306 117422405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117436678 117471854 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 117541455 118251943 LOH Normal High-resolution SNP genotyping 21211785 chr8 117544778 118546370 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 117657054 117768061 Amplification Prostate cancer aCGH 22341455 chr8 117660651 117660944 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11768022 12735382 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-617K arrays 21546498 chr8 117699864 117702438 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 117699992 120401821 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 chr8 117700000 119200000 Amplification Non-small cell lung cancer FISH 19204574 chr8 117700000 119200000 Deletion Acute myeloid leukemia Array-based CGH 17268525 chr8 117700000 119200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 117700000 119200000 Gain Multiple myeloma CGH, FISH 16461302 chr8 117700000 127300000 Copy number Langer-Giedion syndrome Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 chr8 117700000 127300000 Copy number Squamous cell cancer aCGH 20885788 chr8 117700000 127300000 Gain Lung cancer array CGH 16740712 chr8 117700000 127300000 Gain Mental retardation Quantitative Multiplex PCR of Short fluorescent Fragments 16773131 chr8 117700000 127300000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 117700000 127300000 Microdeletion Langer-Giedion syndrome aCGH 22470819 chr8 117700000 131500000 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 chr8 117700000 140000000 Gain Gastric cancer FISH 21528007 chr8 117700000 146274826 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 chr8 117700000 146274826 Amplification Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chr8 117700000 146274826 Copy number benign familial neonatal convulsions - 18472482 chr8 117700000 146274826 Copy number Breast cancer SMRT array 16417655 chr8 117700000 146274826 Duplication Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr8 117700000 146274826 Gain Astrocytoma CGH 17387387 chr8 117700000 146274826 Gain Cancer array-based techniques 21183584 chr8 117700000 146274826 Gain Follicular lymphoma aCGH 20505157 chr8 117700000 146274826 Gain Glioblastoma multiforme conventional CGH 21080181 chr8 117700000 146274826 Gain T-cell lymphomas 250k GeneChip SNP array 19863542 chr8 117700000 146274826 In Colorectal cancer CGH 20709793 chr8 117700000 146274826 Increases Breast cancer Fluorescence in situ hybridization (FISH) and immunohistochemistry 20814816 chr8 117700000 146274826 Increases Medulloblastoma interphase fluorescence in situ hybridization(I-FISH) 20607354 chr8 117700000 146274826 Loss Glioblastoma multiforme aCGH 21080181 chr8 117700000 146364022 Amplification Breast cancer Hum2.0 arrays, Affymetrix U133A arrays 17908964 chr8 117700000 146364022 Amplification Colorectal cancer References 20031965 chr8 117700000 146364022 Amplification Hepatocellular carcinoma Array CGH 16750200 chr8 117700000 146364022 Amplification Ovarian cancer Hum2.0 arrays, Affymetrix U133A arrays 17908964 chr8 117700000 146364022 Amplification Ovarian cancer References 20031965 chr8 117700000 146364022 Amplification Prostate cancer References 20031965 chr8 117700000 146364022 Aneuploidy Non-small cell lung cancer FISH 17643093 chr8 117700000 146364022 Gain Gastric cancer 5K BAC array CGH 17908304 chr8 117700000 146364022 Gain Prostate cancer Affymetrix 250K SNP array 19242612 chr8 117700000 146364022 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 chr8 117702319 119455900 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.5 ST arrays. 21853135 chr8 117702438 117702442 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 117725989 125822989 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr8 117726235 117847675 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 117726235 117847675 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 117726235 117847675 Copy number Lung cancer - 20668451 chr8 117726235 117847675 Gain or loss Breast cancer - 20668451 chr8 117726235 117847675 Gain or loss Cancer - 20668451 chr8 117726235 117847675 Gain or loss Lung cancer - 20668451 chr8 117726235 117847675 Gain or loss Ovarian cancer - 20668451 chr8 117726235 117847675 Gain or loss Pancreas cancer - 20668451 chr8 117726235 117847675 Gain or loss Prostate cancer - 20668451 chr8 117726237 117837243 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 117726237 117837243 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 117726237 117837243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 117726253 117847675 Gain and loss Pancreatic cancer SNP array 17952125 chr8 117726267 117837222 Amplification T-cell lymphomas Array-CGH 22341440 chr8 117737334 117775399 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 117746000 128809000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr8 117776322 117776422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117778741 117786922 Amplification Prostate cancer aCGH 22341455 chr8 11778967 12434445 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 11778967 12452753 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 11778967 12590982 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 117810000 118380000 Loss Acute lymphoblastic leukemia - 21339820 chr8 117813691 117813791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117819201 117819295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117847922 117853378 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 117847923 117853378 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 117847923 117853380 Amplification T-cell lymphomas Array-CGH 22341440 chr8 117847923 117867997 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 117847923 117867997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 117847923 117867997 Gain and loss Pancreatic cancer SNP array 17952125 chr8 117847923 117867997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 117858172 117887104 Amplification Prostate cancer aCGH 22341455 chr8 117889134 117889234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 117927354 117956182 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 117927354 117956182 Deletioneted Breast cancer Quantitative real time PCR and Semi-quantitative Western blot analysis 21255398 chr8 117927355 117956182 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 117927355 117956182 Amplification T-cell lymphomas Array-CGH 22341440 chr8 117927355 117956182 Gain and loss Pancreatic cancer SNP array 17952125 chr8 117927355 117956182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 117931822 117965858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 117950463 117956238 Amplification Prostate cancer aCGH 22341455 chr8 117962511 118188952 Amplification Prostate cancer aCGH 22341455 chr8 118019645 118025418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 118019645 118025418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118019663 118024403 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 118019664 118024403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 118019664 118024403 Amplification T-cell lymphomas Array-CGH 22341440 chr8 118031692 118258134 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 118032399 118258131 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 118032399 118258131 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 118032399 118258131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118032399 118258133 Gain and loss Pancreatic cancer SNP array 17952125 chr8 118068844 118068933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118074551 118100095 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11808210 11808280 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11808210 11808280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118094977 118550672 Deletion Cancer single-nucleotide polymorphism array 19907438 chr8 118097655 118097743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118099366 118099668 Gain and loss Pancreatic cancer SNP array 17952125 chr8 118099366 118099668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118099366 118099672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11815237 11824424 Gain and loss Pancreatic cancer SNP array 17952125 chr8 118168022 118168116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11819907 12078007 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 11819907 12434445 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 11819907 12452753 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 11819907 12590982 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 11819907 12611672 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 118215493 118215547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118216748 118254101 Amplification T-cell lymphomas Array-CGH 22341440 chr8 118228032 118228626 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 11823510 11824424 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118245449 118245674 Gain and loss Pancreatic cancer SNP array 17952125 chr8 118245449 118245674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118254160 118254340 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 11827977 12631643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-585K arrays 21546498 chr8 118292711 118292990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11830789 11830860 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11830789 11830860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118342186 118342286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11834759 11834813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118353863 118353938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11848008 12255418 Copy number Normal Quantitative Real-Time PCR 17666543 chr8 118483632 118483717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118514800 118514900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118528414 134896260 Gain Malignant melanoma BAC array CGH 17260012 chr8 118532964 118552500 Amplification Prostate cancer aCGH 22341455 chr8 11858135 11859135 Gain Osteosarcoma References 21215367 chr8 118590878 118590962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118602210 118621682 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 118602211 118621680 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 118602211 118621680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 118602211 118621680 Gain and loss Pancreatic cancer SNP array 17952125 chr8 118602211 118621680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118602211 118621682 Amplification T-cell lymphomas Array-CGH 22341440 chr8 11862030 11863030 Loss Osteosarcoma References 21215367 chr8 11865300 12631643 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-609K arrays 21546498 chr8 11865300 12645655 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-616K arrays 21546498 chr8 11865300 12775673 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-614K arrays 21546498 chr8 118657001 119491900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 118664076 118664176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11868855 11869517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11868855 11869517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118709415 118709515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118748782 118748859 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 118750860 118980982 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 118764367 118764457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118767924 118768024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118768265 119080514 Amplification Ovarian cancer Array CGH 17440070 chr8 118768265 119080514 Deletion Cancer Array CGH 17440070 chr8 11876864 11877864 Gain Renal cell carcinoma References 21215367 chr8 118770631 121703930 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 11877239 11879508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11877239 11879508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118781970 118782300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 118797555 118797995 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 118811601 119124057 Amplification Prostate cancer aCGH 22341455 chr8 118824465 119445372 LOH Normal High-resolution SNP genotyping 21211785 chr8 118875910 119193119 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 118875910 119193119 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 118875910 119193119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 118880782 119193239 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 118880782 119193239 Copy number Lung cancer - 20668451 chr8 118880782 119193239 Gain or loss Breast cancer - 20668451 chr8 118880782 119193239 Gain or loss Cancer - 20668451 chr8 118880782 119193239 Gain or loss Lung cancer - 20668451 chr8 118880782 119193239 Gain or loss Ovarian cancer - 20668451 chr8 118880782 119193239 Gain or loss Pancreas cancer - 20668451 chr8 118880782 119193239 Gain or loss Prostate cancer - 20668451 chr8 118880787 119193239 Amplification T-cell lymphomas Array-CGH 22341440 chr8 118880961 118881186 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 118881132 119192466 Gain and loss Pancreatic cancer SNP array 17952125 chr8 11888274 11916608 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11888565 12207139 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11888565 12487414 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11888565 12622449 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11888846 11891230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 11888846 11891230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 11890426 12280064 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 118910182 118910282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11891058 11891595 Loss Normal 244K array 17666407 chr8 118915437 118915502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 118941101 118946200 Deletion Glioma mate-paired sequence 20126413 chr8 118943234 118944799 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 11895505 11917493 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11897149 12325480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11897149 12422003 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11897149 12599114 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11897149 12611021 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11897149 12615530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 11897149 12622449 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11897149 12630196 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11897149 12631761 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11899206 12595989 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11899206 12611021 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11899206 12615530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 11899206 12622449 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11899206 12631761 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 1 19000000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr8 1 19000000 Loss Basal cell lymphoma CGH 17170743 chr8 1 19000000 Loss Breast cancer BAC-arrays 17001317 chr8 1 19000000 Loss Follicular lymphoma CGH 17170743 chr8 11902611 12294236 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 119049939 119050289 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 11905289 11920047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11905928 11913684 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11908957 11922905 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11909746 11910349 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1 19100000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr8 1 19100000 Loss Thyroid cancer FISH 19087340 chr8 11914604 12207139 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11914604 12457161 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11914604 12522053 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11914604 12599114 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 119159124 119160124 Gain Cancer Human 24 color M-FISH 21215367 chr8 119159124 119160124 Gain Renal cell carcinoma References 21215367 chr8 119180708 120921281 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 119200000 122500000 Copy number Breast cancer Real-time reverse transcription-PCR 18698023 chr8 119200000 122500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 119200000 122500000 Gain head and neck squamous cell carcinoma MLPA 16740747 chr8 119200000 122500000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 119200000 122500000 Gain Multiple myeloma CGH, FISH 16461302 chr8 119200000 122500000 Gain Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr8 119200000 122500000 Inversion Breast cancer transcriptome sequencing 19181860 chr8 119200000 122500000 Translocation Breast cancer transcriptome sequencing 19181860 chr8 119200000 127300000 Gain and amplification Multiple myeloma Array CGH 16616336 chr8 119200000 127300000 Gain Breast cancer - 16397240 chr8 119200000 127300000 Gain Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 119200000 127300000 Gain Multiple myeloma CGH, FISH 16461302 chr8 119200000 127300000 Increases Medulloblastoma interphase fluorescence in situ hybridization(I-FISH) 20607354 chr8 119200000 127300000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr8 119200000 131500000 Gain Diffuse large b-cell lymphoma QMPSF assay 18287131 chr8 119200000 140000000 Amplification Medulloblastoma SNP arrays 21979893 chr8 119200000 140000000 Gain Glioblastoma multiforme aCGH 21080181 chr8 11920161 11920515 Gain and loss Pancreatic cancer SNP array 17952125 chr8 119201693 119634183 Amplification Prostate cancer aCGH 22341455 chr8 119207022 120292150 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 119234708 119234779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 119235165 121449563 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 119264795 119264867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 119270875 119703415 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 119270875 119703415 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 119270880 119703365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 119270880 119703365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 119273455 119273555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 119331475 119331775 Loss Renal cell carcinoma References 21215367 chr8 119331973 119365964 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 11934586 12630196 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 119358985 119359085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 119362404 119362504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11936937 12292167 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 1 193800000 Copy number Breast cancer FISH 21245420 chr8 119411744 119411844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11944807 12390245 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 119459408 119703301 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 119459408 119703301 Amplification T-cell lymphomas Array-CGH 22341440 chr8 119459408 119703301 Gain and loss Pancreatic cancer SNP array 17952125 chr8 119491901 121617100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 119507849 119507949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 119510638 119510738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 119516226 119516536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 119558066 119558115 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 11959307 11966665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 119603426 119658567 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 11960741 12396214 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 119623917 119668450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 119647344 120401278 LOH Normal High-resolution SNP genotyping 21211785 chr8 119652257 120401278 LOH Normal High-resolution SNP genotyping 21211785 chr8 119656428 120401278 LOH Normal High-resolution SNP genotyping 21211785 chr8 119658006 120496451 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 11967060 11978059 Loss Normal TaqMan assays 20972442 chr8 119690784 119690845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 119717186 121345471 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.6 ST arrays. 21853135 chr8 11972069 12595989 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 119754041 127653471 Copy number Lung cancer paired-end sequencing 18438408 chr8 119774403 119774503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 119793078 119806603 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 11980210 12310441 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 1 1980242 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr8 119809712 137747078 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 11981060 11987059 Loss Normal TaqMan assays 20972442 chr8 119825236 121114931 LOH Normal High-resolution SNP genotyping 21211785 chr8 11984255 12010434 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr8 119854877 119854977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 11986948 12457161 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11986948 12603288 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 11986948 12622449 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11986948 12630196 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 11986960 12597222 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 119879650 119879750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1198940 1324420 Gain and loss Pancreatic cancer SNP array 17952125 chr8 119935795 119964382 Amplification Prostate cancer aCGH 22341455 chr8 119944412 119944512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 119951058 119952058 Loss Osteosarcoma References 21215367 chr8 11996550 12348059 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 11996550 12381530 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 119994001 119994053 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 120004978 120033492 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 120004978 120033492 Amplification T-cell lymphomas Array-CGH 22341440 chr8 120004978 120033492 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120004978 120033564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 120004978 120033564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120012490 120193443 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 120019840 120019889 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 120020198 120344931 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 12003090 12008076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12003090 12008076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120032095 120032170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12004824 12261269 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120057933 120058039 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120057933 120058039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120079423 120119206 Amplification Prostate cancer aCGH 22341455 chr8 120088802 120096951 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 12010699 12046107 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr8 12011451 12434445 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 12011451 12452753 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 12011451 12590982 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 12011451 12611672 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 120118859 120118958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120123639 121249513 LOH Normal High-resolution SNP genotyping 21211785 chr8 120135447 120135637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120135552 120135612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120148626 120188383 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 120148627 120188376 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 120148627 120188376 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 120148627 120188376 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120148627 120188376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120148627 120188388 Amplification T-cell lymphomas Array-CGH 22341440 chr8 120151584 120151633 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 12015676 12348059 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 120195096 120195196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120219412 120254982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 120220609 120257912 Amplification Prostate cancer aCGH 22341455 chr8 120221811 120230267 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 120222014 120258138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 120222264 120230400 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 120223723 120230399 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 120223724 120230396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 120223965 120228627 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 120223965 120228627 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 12022775 12024213 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr8 12025123 12325480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12025123 12457161 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12025123 12487414 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12025123 12597210 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12025135 12039385 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 12025135 12039385 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12027485 12308871 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 120283759 120283859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120286905 121249047 LOH Normal High-resolution SNP genotyping 21211785 chr8 120289790 120327095 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 120289790 120327095 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 120289814 120327094 Amplification T-cell lymphomas Array-CGH 22341440 chr8 120289893 120327090 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 120289893 120327090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 120289893 120327090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120289893 120327092 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12031343 12515216 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 120315368 120321340 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr8 12032086 12033678 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12032086 12033678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120326738 120326838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120338152 120338241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120369418 120369569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 120376869 120376969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12039385 12072406 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 120428461 120428516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120428551 120436677 Amplification Prostate cancer aCGH 22341455 chr8 120469769 120469890 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120469769 120469890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120469769 120469890 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr8 120497882 120505776 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 120497882 120505776 Amplification T-cell lymphomas Array-CGH 22341440 chr8 120497882 120505776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 120497882 120505776 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120497882 120505776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120498925 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 120561696 120562422 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120561696 120562422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120569318 120651105 Amplification Prostate cancer aCGH 22341455 chr8 120606266 128801838 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 120638499 120720287 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 120638500 120720287 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 120638500 120720287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 120638500 120720287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120638507 120720251 Amplification T-cell lymphomas Array-CGH 22341440 chr8 120638509 120720260 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12067127 12070631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12067127 12070631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120714860 120715376 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 12071704 12291845 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12071704 12355997 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12071716 12597205 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 120742605 120742702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120743013 120845073 Amplification Prostate cancer aCGH 22341455 chr8 12077025 12089033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12077025 12089033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12077360 12264641 Gain Normal 244K array 17666407 chr8 12077763 12077915 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120793251 120793566 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120793251 120793566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120793325 120793566 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120800553 120800737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120800787 120800999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12080356 12088988 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120812194 120914255 amplification Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr8 120812194 120914255 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 120812194 120914255 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 120812196 120913985 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120812196 120914255 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 120812196 120914255 Amplification T-cell lymphomas Array-CGH 22341440 chr8 120812196 120914255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 120812196 120914255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120812677 120914224 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 120825226 120883743 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr8 120846180 120868169 Amplification Prostate cancer aCGH 22341455 chr8 120869973 120893026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 120885899 121063156 Amplification Prostate cancer aCGH 22341455 chr8 120915398 120937330 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 120915398 120937330 Amplification T-cell lymphomas Array-CGH 22341440 chr8 120915398 120937330 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 120915398 120937330 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120915398 120937330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120944084 120944283 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120944084 120944283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120955143 121131937 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 120955143 121131937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 120955143 121131937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120955146 121131937 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120955146 121131939 Amplification T-cell lymphomas Array-CGH 22341440 chr8 120955959 120956059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 120972536 120972650 Gain and loss Pancreatic cancer SNP array 17952125 chr8 120972539 120972650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 120972561 120972650 Gain and loss Pancreatic cancer SNP array 17952125 chr8 121002212 121141163 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 121037634 121127947 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 121038866 121703930 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 121118433 121381535 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr8 121123291 121139152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 121137351 121384272 Amplification Prostate cancer aCGH 22341455 chr8 121176330 121221387 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 121188863 121453447 Gain and loss Pancreatic cancer SNP array 17952125 chr8 121206532 121453454 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 121206533 121453447 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 121206533 121453447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 121206533 121453447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 121229284 121453454 Amplification T-cell lymphomas Array-CGH 22341440 chr8 121272913 121273013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121282558 121282658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121299577 121299677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121311568 121311663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121329396 121329496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121345471 122332581 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.7 ST arrays. 21853135 chr8 121364665 121364714 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 121408082 121457646 Amplification Prostate cancer aCGH 22341455 chr8 121457665 121535874 Amplification Prostate cancer aCGH 22341455 chr8 121477263 121526828 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 121477264 121526828 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 121477264 121526828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 121477264 121526828 Gain and loss Pancreatic cancer SNP array 17952125 chr8 121477264 121526828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 121477265 121526828 Amplification T-cell lymphomas Array-CGH 22341440 chr8 121483185 121867498 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 121485532 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 121526846 121605056 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 121526847 121605056 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 121526847 121605056 Amplification T-cell lymphomas Array-CGH 22341440 chr8 121526847 121605056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 121526847 121605056 Gain and loss Pancreatic cancer SNP array 17952125 chr8 121526847 121605056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 121542376 122277839 Gain Developmental delay affymetrix genechip 500K/SNP 6.36 array 21147756 chr8 121547984 121824308 Amplification Prostate cancer aCGH 22341455 chr8 121581838 121583980 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 121593009 121599835 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 121617101 121870100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 121619225 121893910 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 121619226 121893910 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 121619226 121893910 Amplification T-cell lymphomas Array-CGH 22341440 chr8 121619226 121893910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 121619226 121893910 Gain and loss Pancreatic cancer SNP array 17952125 chr8 121619226 121893910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 121644109 121664094 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 121672350 121672435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121673155 121707615 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 121723846 121769101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 121750854 121751172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 121784261 129821355 Gain Burkitt's lymphoma 250k Sty GeneChips 20823134 chr8 121814746 121814846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121827989 121828074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121837279 121838279 Loss Renal cell carcinoma References 21215367 chr8 121838655 121838955 Loss Renal cell carcinoma References 21215367 chr8 121840292 121840392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121865821 121866821 Loss Renal cell carcinoma References 21215367 chr8 121870101 122705000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 121902146 122308217 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 121920212 122251552 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-579K arrays 21546498 chr8 121923925 121924242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 121941786 121943598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 121989059 121989159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121999759 121999859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 121999787 121999894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1 2200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 1 2200000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr8 1 2200000 Copy number Normal - 21701786 chr8 1 2200000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr8 1 2200000 Gain Congenital diaphragmatic hernia BAC-array CGH 21341218 chr8 1 2200000 Loss Cancer array CGH 18840272 chr8 1 2200000 Loss Pilocytic astrocytoma Array CGH 18622384 chr8 122050126 122770583 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 12207948 12521881 Copy number Lung cancer paired-end sequencing 18438408 chr8 12212843 12220196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 122155131 122155286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 122155287 122155474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 122236671 122237671 Loss Renal cell carcinoma References 21215367 chr8 122244031 123530468 Amplification Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr8 12225652 12260380 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 122268179 122268313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 122282247 122282380 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 12233358 12611672 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 122390257 122408903 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 12240283 12286313 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 122404128 122404228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12242480 12487414 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12242625 12595053 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 12244201 13834445 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 12245262 12294236 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 12245262 12294236 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 122479842 122485696 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 122500000 127300000 Amplification Cancer HT-HGU133A Affymetrix chip 21129771 chr8 122500000 127300000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 122500000 127300000 Deletion Colorectal cancer GISTIC software 19359472 chr8 122500000 127300000 Gain Barrett's adenocarcinoma FISH 18663352 chr8 122500000 127300000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 chr8 122500000 127300000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 122500000 127300000 Gain Multiple myeloma CGH, FISH 16461302 chr8 122500000 131500000 Amplification Acute myeloid leukemia Array-based CGH 17268525 chr8 122500000 131500000 Amplification Acute myeloid leukemia Array CGH 18379011 chr8 122500000 139900000 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr8 122500000 140000000 Gain Medulloblastoma SNP arrays 21979893 chr8 122500000 146274826 Gain Medulloblastoma SNP arrays 21979893 chr8 12251 100000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 122511712 122511797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 122518114 123520277 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 122520537 122521036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 122539710 122575047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 12254664 12294236 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 12254664 12294236 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 12254664 12294847 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 12254664 12295624 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 12254664 12295624 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 12256314 12261275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12256314 12261275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12258026 12259027 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12260380 12276652 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12260380 12286526 Copy number Intracranial tumor Affymetrix SNP6.0 genotyping platform 22048656 chr8 12260380 12286526 Copy number Intracranial tumor Genome-Wide Human SNP Array 6.0 22048656 chr8 12260380 12286526 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 12260593 12292167 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 12260593 12292167 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 12260593 12317798 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 122607785 132092760 Duplication Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 chr8 122608977 122609077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12261219 12321649 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 122625270 122653629 Amplification Prostate cancer aCGH 22341455 chr8 122651585 122657564 Amplification Prostate cancer aCGH 22341455 chr8 122663397 122663532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 122692087 123839409 LOH Normal High-resolution SNP genotyping 21211785 chr8 122693538 123246973 LOH Normal High-resolution SNP genotyping 21211785 chr8 122694451 122722811 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 122694451 122722811 Duplication Fever References 22138850 chr8 122694451 122722811 Duplication Normal References 22138850 chr8 122694719 122722811 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 122694719 122722811 Amplification T-cell lymphomas Array-CGH 22341440 chr8 122694719 122722811 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 122694719 122722811 Gain and loss Pancreatic cancer SNP array 17952125 chr8 122694719 122722811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 122705001 123539900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 122720766 122726114 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 122732489 122732754 Gain Normal 244K array 17666407 chr8 122733919 122743541 Loss Normal 244K array 17666407 chr8 12274423 12294847 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 12275543 12452753 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 12275543 12590982 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 12275769 12284550 Gain Normal aCGH 21627829 chr8 12275909 12285493 Loss or gain Normal 244K array 17666407 chr8 122765681 146274826 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr8 12276617 12294236 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 12276617 12294236 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 12276640 12291845 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12276640 12325480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12276640 12402540 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12276640 12407007 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 12276640 12407007 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12276640 12415742 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12276640 12422646 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 12276640 12422646 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12276640 12487414 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 12276640 12487414 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12276640 12595989 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12276640 12620232 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12276640 12622449 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12276640 12630196 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12276640 12630196 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12276652 12284206 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12276787 12321649 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 12277919 12282956 Gain Normal aCGH 21627829 chr8 12277999 12291845 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12277999 12407007 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 122782830 122782930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12278657 12407007 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 122832119 123104828 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 12284194 12434523 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12284194 12622449 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12284206 12285893 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 122855768 122855868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12285893 12286526 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12286403 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 12286526 12286527 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12286527 12291857 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12286694 12287223 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 chr8 12286874 12487414 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12287538 12355997 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12289551 12487414 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12289601 25030347 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 12291516 12325480 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12291516 12447523 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12291516 12457161 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12291516 12457161 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12291516 12457161 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12291516 12487414 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12291516 12536010 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12291516 12620232 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12291516 12622449 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12291857 12305298 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12291857 12464336 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 122969508 122970508 Gain Renal cell carcinoma References 21215367 chr8 122970806 122970859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 122986556 122986656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12300000 12808000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr8 123050584 123050684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12305286 12320100 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12305286 12407007 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 12305286 12464324 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12305286 12464541 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12305286 12487414 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12305286 12487414 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12305286 12518241 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12305286 12526406 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12305286 12595989 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12305286 12618442 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12305286 12622151 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12305286 12622449 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 12305286 12622449 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12305286 12622449 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12305286 12630196 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12305298 12308984 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12305298 12526418 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 123074743 123075743 Loss Renal cell carcinoma References 21215367 chr8 123077634 123078634 Gain Renal cell carcinoma References 21215367 chr8 12308108 12487414 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12308913 12487414 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12308984 12356009 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 123092932 123097325 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 123102882 123102982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123102996 146250794 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr8 12310442 12615530 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 123117588 123117917 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 123126507 123143461 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 123126507 123143968 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 123128206 123130172 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 123182693 123184252 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 12320100 12595989 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12321101 12498200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 123226901 123226994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12327008 12327160 Gain and loss Pancreatic cancer SNP array 17952125 chr8 123273590 126370411 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.8 ST arrays. 21853135 chr8 12327494 12338223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12327494 12338223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12329599 12338223 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1 23300000 Loss and deletion Multiple myeloma Array CGH 16616336 chr8 123320638 123320735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123359698 123359788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12338997 12468794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12338997 12468794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1 23400000 Duplication Normal - 21259039 chr8 1 23400000 Loss Hepatocellular carcinoma CGH 22174799 chr8 123404368 123637074 Deletion Intellectual disability Array CGH 22102821 chr8 123471946 123471978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123484981 123485068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123496196 123496290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123497191 123497228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123525912 146133884 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 123530475 123530575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123539901 124096500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 123543301 126917269 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 12356009 12367299 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12367299 12370481 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 123690496 123690585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12370481 12407019 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 123706924 123721053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 123752711 123752813 Gain and loss Pancreatic cancer SNP array 17952125 chr8 123752711 123752813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 123774622 123775622 Loss Renal cell carcinoma References 21215367 chr8 123778997 123779297 Gain Renal cell carcinoma References 21215367 chr8 123793900 123986754 Amplification Prostate cancer aCGH 22341455 chr8 123850694 123851622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 123850712 123851551 Gain and loss Pancreatic cancer SNP array 17952125 chr8 123863081 124055936 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 123863082 124055936 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 123863082 124055936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 123863082 124055936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 123863170 124055927 Gain and loss Pancreatic cancer SNP array 17952125 chr8 123863170 124055931 Amplification T-cell lymphomas Array-CGH 22341440 chr8 123866126 123866226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123874789 123874877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123881299 123882299 Loss Renal cell carcinoma References 21215367 chr8 123883526 123883826 Loss Renal cell carcinoma References 21215367 chr8 123895554 123895631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 123928111 123928199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 123955490 123955596 Gain and loss Pancreatic cancer SNP array 17952125 chr8 123955491 123955589 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12397410 12414457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 123989457 123990457 Gain Renal cell carcinoma References 21215367 chr8 124005102 127840166 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 124025567 124054647 Amplification Prostate cancer aCGH 22341455 chr8 124037370 124037470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12407019 12447535 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 124084919 124164392 Amplification Prostate cancer aCGH 22341455 chr8 124094768 124123722 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124094769 124123722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124094769 124123722 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124094769 124123722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124094769 124123722 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124094769 124123722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124095009 124123533 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 124095691 124096380 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124096501 124526600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 124126138 124126230 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124126138 124126231 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124126138 124126233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124154100 124233571 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124154101 124233571 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124154101 124233571 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 124154101 124233571 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124154101 124233571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124154101 124233571 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124154101 124233571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12415742 12595989 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12415742 12615530 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12415742 12618442 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 12415742 12620232 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 124169071 124169169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124194751 124222317 Amplification Prostate cancer aCGH 22341455 chr8 124204531 124205108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12421549 12456890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 124232230 124253616 Amplification Prostate cancer aCGH 22341455 chr8 124233227 124233523 Gain Ewing's sarcoma Array CGH 19144156 chr8 124260467 124291499 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124260468 124426759 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124260695 124286546 Amplification Prostate cancer aCGH 22341455 chr8 124261731 124261945 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124261731 124261945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124261732 124261946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124263933 124291498 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124263933 124291498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124263933 124291498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124263933 124291499 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124282593 124284164 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124282593 124284164 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124282593 124284164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12428619 12428721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124301389 124322793 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124301389 124338684 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124301411 124348807 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124301412 124322798 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124301412 124322798 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124301412 124322798 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124301438 124322767 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 124304310 124304410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124310623 124310923 Gain Renal cell carcinoma References 21215367 chr8 124329876 124356962 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124329878 124355728 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124329878 124355728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124329878 124355728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124329884 124355728 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124329884 124355728 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124332089 124408704 Amplification Prostate cancer aCGH 22341455 chr8 12433487 12611672 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 124339906 124339978 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124339906 124339978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124344264 124344352 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124344264 124344370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124348065 124348166 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124348065 124348166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124359539 124359639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12437502 12611672 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 124380000 129070000 Gain Ductal carcinoma SNP array 22052326 chr8 12440001 12490500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 124401271 124477886 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124401274 124477848 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124401922 124477868 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124401922 124477868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124401922 124477868 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124401922 124477868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124407324 124407373 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 124408864 124408957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124423835 124423903 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124423835 124423903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124428964 124454259 Amplification Prostate cancer aCGH 22341455 chr8 124429455 124429551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124436106 146015567 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 chr8 12447312 37299193 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 12447535 12468116 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 124481994 124483512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124482001 124484000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 124498146 124523441 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124498146 124523441 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 124498146 124523441 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124498146 124523441 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124498146 124523441 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124498146 124523441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124498649 124499649 Loss Renal cell carcinoma References 21215367 chr8 124515357 124553445 Amplification Prostate cancer aCGH 22341455 chr8 124526601 125361500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 124536398 124536528 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124536402 124536528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124536461 124536528 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124584538 124622627 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 124584538 124622627 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124584538 124622627 Gain or loss Breast cancer - 20668451 chr8 124584538 124622627 Gain or loss Cancer - 20668451 chr8 124584538 124622627 Gain or loss Lung cancer - 20668451 chr8 124584538 124622627 Gain or loss Ovarian cancer - 20668451 chr8 124584538 124622627 Gain or loss Pancreas cancer - 20668451 chr8 124584538 124622627 Gain or loss Prostate cancer - 20668451 chr8 124584540 124622627 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124584540 124622627 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124584540 124622627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124584540 124622627 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124584540 124622627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12460390 12461390 Gain Cancer Human 24 color M-FISH 21215367 chr8 12460390 12461390 Gain Osteosarcoma References 21215367 chr8 124622067 124622167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124629679 125119516 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 124629679 125119516 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 124636398 124636464 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 124651977 124652077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124654695 124656225 Gain Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 chr8 12465747 12468794 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124657914 124665189 Amplification Prostate cancer aCGH 22341455 chr8 124663658 124663728 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124663658 124663728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124680024 124680185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124680080 124680180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124680170 124680319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12468116 12487426 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 124693033 124749646 Amplification Prostate cancer aCGH 22341455 chr8 124722773 124728510 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 124723474 124723533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 124727095 124734371 Copy number Breast cancer Univariate Analysis 17375183 chr8 124727095 124734371 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124727096 124734371 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124727096 124734371 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124727096 124734371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124727160 124734347 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124727166 124734347 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124740263 124740363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124757941 124759367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 124762214 124818828 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124762215 124818823 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124762216 124818828 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124762216 124818828 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124762216 124818828 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124762216 124818828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124780881 124827691 Amplification Prostate cancer aCGH 22341455 chr8 12479885 12480032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12480186 12483169 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124810748 124855790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 124813077 124813177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12483107 12526406 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 124849884 124875255 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124849893 124894217 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 124850062 124896871 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124850063 124896869 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 124850063 124896869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 124850063 124896869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 124859161 124865676 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124859508 124894263 Amplification T-cell lymphomas Array-CGH 22341440 chr8 124860078 124894257 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12487414 12622449 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 12487426 12522562 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 12487468 12522125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 124900000 129900000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 chr8 124901566 125907063 LOH Normal High-resolution SNP genotyping 21211785 chr8 124922435 125757133 LOH Normal High-resolution SNP genotyping 21211785 chr8 124923338 124968590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 124924529 124924629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124933407 125201483 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 124938460 124938560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124941658 124983149 Gain and loss Pancreatic cancer SNP array 17952125 chr8 124953960 125132301 Amplification Prostate cancer aCGH 22341455 chr8 124960890 124960990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 124985801 124989707 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 125037406 125201483 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125037406 125201483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125047580 125067602 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125065559 125122204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125065559 125122204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 125065559 125122204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125095057 125097443 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125125724 125156439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 125127495 125142214 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125127495 125142214 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125157620 125201101 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12522562 12536010 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 125233346 125233995 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125238148 125238218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 125245417 125245517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 125274113 125328820 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125274113 125328820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 125274113 125328820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125293388 125293517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 125323158 125384939 Amplification Prostate cancer aCGH 22341455 chr8 125332999 133932169 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 125342068 125342174 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125342068 125342174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125349149 125349416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 125361501 125614500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 12537984 12538132 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125386694 125386794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1253898 1253968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 125392339 125454121 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 125392342 125454121 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 125392342 125454121 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125393409 125454114 Amplification T-cell lymphomas Array-CGH 22341440 chr8 125393412 125454110 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125393412 125454114 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125463047 125465266 Amplification Prostate cancer aCGH 22341455 chr8 125486404 125486472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 125487007 125500858 Amplification Prostate cancer aCGH 22341455 chr8 125500734 125551328 Amplification Prostate cancer aCGH 22341455 chr8 125500734 125551329 Copy number Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 125504247 126521417 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 125528765 125529765 Loss Renal cell carcinoma References 21215367 chr8 125532243 125534274 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125532243 125534274 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125532243 125534276 Amplification T-cell lymphomas Array-CGH 22341440 chr8 125532254 125534274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 125532254 125534274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125532260 125534217 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 125549000 146264000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr8 125551342 125562226 Amplification Prostate cancer aCGH 22341455 chr8 125556188 125570040 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 125556189 125570027 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125556189 125570027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 125556189 125570027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125556189 125570040 Amplification T-cell lymphomas Array-CGH 22341440 chr8 125556189 125570040 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125556194 125569280 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 125563024 125740729 Amplification Prostate cancer aCGH 22341455 chr8 125569929 125620492 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 125569930 125620492 Amplification T-cell lymphomas Array-CGH 22341440 chr8 125569932 125620494 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125569932 125620510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 125569932 125620510 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125569932 125620510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125569937 125600266 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 12560001 12569000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 125614501 126171100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 125620523 125631408 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 125620524 125631407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125620525 125631401 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125620525 125631401 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125620531 125631399 Amplification T-cell lymphomas Array-CGH 22341440 chr8 125620609 125631394 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 125624329 125624429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 125632208 125809911 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 125632208 125809911 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 125632212 125809840 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 125632212 125809840 Amplification T-cell lymphomas Array-CGH 22341440 chr8 125632212 125809840 Gain and loss Pancreatic cancer SNP array 17952125 chr8 125632212 125809911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 125632212 125809911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125638561 125670131 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 125644984 125670131 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 125675435 126138634 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 125683579 125683648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12572787 12630196 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 12574653 15813733 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 12578004 50867794 Copy number Lung cancer paired-end sequencing 18438408 chr8 12586149 12588894 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12586149 12588894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 125861562 125861659 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 12587114 12605004 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 125882625 125882688 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 125889749 125889973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 125889867 125889967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 125889957 125890098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 125889958 125890221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12593116 12604206 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 125935980 125936980 Loss Osteosarcoma References 21215367 chr8 12596316 12603965 Gain Normal Quantitative PCR 18989455 chr8 126010719 126034524 Amplification Prostate cancer aCGH 22341455 chr8 126023934 126024088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126024103 126024311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126036501 126104060 Amplification Prostate cancer aCGH 22341455 chr8 12604206 12606321 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 126054721 126060805 Gain and loss Pancreatic cancer SNP array 17952125 chr8 126054732 126060809 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 126054732 126060809 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 126054733 126060809 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 126054733 126060809 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 126054733 126060809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 126079900 126103707 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 126079900 126103707 Gain or loss Breast cancer - 20668451 chr8 126079900 126103707 Gain or loss Cancer - 20668451 chr8 126079900 126103707 Gain or loss Lung cancer - 20668451 chr8 126079900 126103707 Gain or loss Ovarian cancer - 20668451 chr8 126079900 126103707 Gain or loss Pancreas cancer - 20668451 chr8 126079900 126103707 Gain or loss Prostate cancer - 20668451 chr8 126079901 126103707 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 126079901 126103707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 126079901 126103707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 126079929 126103705 Gain and loss Pancreatic cancer SNP array 17952125 chr8 126080613 126103706 Amplification T-cell lymphomas Array-CGH 22341440 chr8 126080726 126103690 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 126090681 126090781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126104082 126379366 Amplification Prostate cancer aCGH 22341455 chr8 126105684 126173243 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 126105687 126173243 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 126105691 126165402 Amplification T-cell lymphomas Array-CGH 22341440 chr8 126105691 126173187 Gain and loss Pancreatic cancer SNP array 17952125 chr8 126105691 126173191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 126105691 126173191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 126105711 126173112 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 126140919 126141004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12614445 12614516 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12614445 12614516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 126171101 126373500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 126173276 126448544 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 126173276 126448544 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 126173277 126448543 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 126173277 126448543 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 126173277 126448543 Gain and loss Pancreatic cancer SNP array 17952125 chr8 126173277 126448543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 126173277 126448544 Amplification T-cell lymphomas Array-CGH 22341440 chr8 126173357 126448429 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 126178201 126381600 Deletion Glioma mate-paired sequence 20126413 chr8 126222506 126222606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12622845 12623145 Loss Renal cell carcinoma References 21215367 chr8 12623777 12657363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12623777 12657363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12623790 12640008 Gain and loss Pancreatic cancer SNP array 17952125 chr8 126352028 126352324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 126352028 126352326 Gain and loss Pancreatic cancer SNP array 17952125 chr8 126352028 126352326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 126354055 126354352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 126357475 128822596 Amplification Gastric cancer array CGH 21635755 chr8 126373501 126525300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 126374890 126375092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 126405980 126406296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 126442562 126450644 Amplification Prostate cancer aCGH 22341455 chr8 126445343 126445443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126466000 136066000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr8 12647251 14621181 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 126510501 126513500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 126511744 126519826 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 126511745 126519824 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 126511745 126519824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 126511745 126519824 Gain and loss Pancreatic cancer SNP array 17952125 chr8 126511745 126519824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 126511745 126519827 Amplification T-cell lymphomas Array-CGH 22341440 chr8 126515341 130792537 Amplification Acute myeloid leukemia - 21251322 chr8 126525301 126753000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 126537697 126537797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126540000 129580000 Loss Acute lymphoblastic leukemia - 21339820 chr8 126546927 126547012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126590492 126590592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126592728 126592828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126619574 126619649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126648802 126682680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126655187 136154996 Gain Prostate cancer Array CGH 18632612 chr8 126657786 126684759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126658991 126671781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126661337 126676033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126661657 126671365 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126662201 126672300 Deletion Glioma mate-paired sequence 20126413 chr8 126662647 126708435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126663535 126679499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126664304 126670316 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 126664304 126670316 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 126671718 126688753 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 126700867 126701066 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 126726425 126726525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126750558 126750888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 126753001 126854200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 126771852 126771937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12677322 12696885 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 126779544 127466139 LOH Normal High-resolution SNP genotyping 21211785 chr8 126787355 126787440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126800000 137770000 Amplification Sezary syndrome Array-based CGH 18413736 chr8 12680729 12688903 Loss Normal 244K array 17666407 chr8 126837799 126837899 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126841132 126841232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126854201 127436100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 126878036 126889727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126889805 126889905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126895826 126895926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 126910333 126942210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 126911726 128927710 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 126917269 127292816 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 126917269 127952296 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 12693099 12696897 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 12696881 12696948 Loss Normal 244K array 17666407 chr8 126982377 126982480 Gain and loss Pancreatic cancer SNP array 17952125 chr8 126982377 126982480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12700000 19000000 Copy number Breast cancer - 19287154 chr8 12700000 19000000 Copy number Cancer array CGH 18840272 chr8 12700000 19000000 Deletion Epithelial cancer whole genome tiling path microarray CGH platform 20478067 chr8 12700000 19000000 Deletion Non-small cell lung cancer FISH 19010865 chr8 12700000 19000000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr8 12700000 19000000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 chr8 12700000 19000000 Loss Intracranial arachnoid cysts 34 larynx and 22 pharynx carcinomas 17641416 chr8 12700000 19000000 Loss Primary mediastinal b-cell lymphoma Array CGH 17728785 chr8 12700000 19100000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 12700000 19100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 12700000 19100000 Copy number Normal - 21701786 chr8 12700000 19100000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr8 12700000 19100000 Deletion Breast cancer References 21956041 chr8 12700000 19100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 12700000 19100000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 chr8 12700000 19100000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 12700000 19100000 Loss Cervical cancer Array CGH and SNP array 16585170 chr8 12700000 19100000 Loss Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr8 12700000 19100000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 chr8 12700000 19100000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr8 12700000 19100000 Loss Prostate cancer Human version 2.0 BAC arrays 17217626 chr8 12700000 23300000 Loss Basal cell lymphoma Array CGH 16317097 chr8 12700000 23300000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 chr8 12700000 23400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 12700000 27400000 Deletion Medulloblastoma SNP arrays 21979893 chr8 12700000 27400000 Loss Prostate cancer Array CGH 16461572 chr8 12700000 29700000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr8 12700000 43100000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr8 12702986 12703086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127072394 127072494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12714625 14748965 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 127153974 127155643 Gain and loss Pancreatic cancer SNP array 17952125 chr8 127189631 127223027 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 127223102 127223185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 12722654 12722754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127261388 127263752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 127261409 127263721 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 127286177 127397767 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 127286177 127397767 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 127289895 127420529 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 127300000 131500000 Amplification Breast cancer FISH 16497871 chr8 127300000 131500000 Amplification Breast cancer Infinium Human-1 109K BeadChip,Sup Wald Identification of copy CHanges in dna 22048815 chr8 127300000 131500000 Amplification Colorectal cancer FISH 16882699 chr8 127300000 131500000 Amplification Colorectal cancer PCR 16912164 chr8 127300000 131500000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 chr8 127300000 131500000 Amplificationlificaiton Normal - 22101487 chr8 127300000 131500000 Amplification Lung cancer aCGH 21911935 chr8 127300000 131500000 Amplification Prostate cancer - 21088497 chr8 127300000 131500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 127300000 131500000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 chr8 127300000 131500000 Copy number Breast cancer 32K, 33K and 38K array-based CGH 20459607 chr8 127300000 131500000 Copy number Chronic stroke c-mycER(TAM) assay 19622162 chr8 127300000 131500000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 127300000 131500000 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 127300000 131500000 Copy number Cystic fibrosis Northern blot, Real-time reverse transcriptase PCR 19273617 chr8 127300000 131500000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 chr8 127300000 131500000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr8 127300000 131500000 Gain Esophageal squamous carcinoma Array CGH 17470683 chr8 127300000 131500000 Gain Glioblastoma multiforme aCGH 21080181 chr8 127300000 131500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr8 127300000 131500000 Gain Lung cancer Array CGH 17925434 chr8 127300000 131500000 Gain Non-small cell lung cancer dChip 21829676 chr8 127300000 131500000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 chr8 127300000 131500000 Translocation Breast cancer transcriptome sequencing 19181860 chr8 127300000 136400000 Gain Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr8 127300000 136500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 127300000 139900000 Amplification Breast cancer Affymetrix HT-HG_U133A Early Access Arrays 17850661 chr8 127300000 139900000 Gain head and neck squamous cell carcinoma MLPA 16740747 chr8 127300000 140000000 Copy number Breast cancer Affymetrix 16272173 chr8 127300000 140000000 Gain Ovarian cancer Affymetrix 20844748 chr8 127300000 140000000 Gain Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr8 127300000 146364022 Gain and amplification Multiple myeloma Array CGH 16616336 chr8 127303784 127303883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1273119 1273222 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chr8 12731381 12740148 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 127318138 127318454 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 127338063 127338745 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr8 127346504 127348631 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 127389276 127389376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127391153 127771453 Amplification Breast cancer FISH 17142309 chr8 1 27400000 Deletion Heart disease Illumina 617Quad Beadchip platform 21282601 chr8 1274045 1274125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127424153 127424185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127436101 127790300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 127445828 129661846 Amplification Esophageal cancer affymetrix genechip human mapping 254K Nsp arrays 21851588 chr8 127458201 146258201 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr8 127488904 127489204 Loss Renal cell carcinoma References 21215367 chr8 127512705 127512804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127528434 127529434 Loss Renal cell carcinoma References 21215367 chr8 127545025 127546025 Loss Renal cell carcinoma References 21215367 chr8 127552518 127573873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 127564686 127570465 Amplification Prostate cancer aCGH 22341455 chr8 127573835 128352364 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 127586190 127586296 Gain and loss Pancreatic cancer SNP array 17952125 chr8 127586190 127586296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 127633869 127639648 Gain and loss Pancreatic cancer SNP array 17952125 chr8 127633871 127639562 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 127633871 127639648 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 127633871 127639648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 127633871 127639648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 127638001 127639500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 127638988 131013284 Amplification Breast cancer Array CGH 16620391 chr8 127668066 127768534 Copy number Lung cancer paired-end sequencing 18438408 chr8 127723375 127723437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127735812 127735912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127752949 127753081 Gain and loss Pancreatic cancer SNP array 17952125 chr8 127752949 127753081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 127782831 128019028 Copy number Lung cancer paired-end sequencing 18438408 chr8 127790301 127967400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 127821098 127821183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127840166 128150355 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 127848183 128750181 Amplification Congenital anomalies of the kidney and urinary tract Illumina high-density SNP arrays 18852474 chr8 127865254 127865482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127865339 127865478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127865473 127865676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 127914628 127959731 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 127967401 128195100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 128004436 128004536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128033414 128168811 Copy number Lung cancer paired-end sequencing 18438408 chr8 128038135 128038235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128041320 128041420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12807721 12807808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 128081436 128082107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 128100001 129100000 Amplification Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chr8 128122573 128156234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 128139851 128547342 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 12814377 12857802 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 128169258 128859798 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 128184316 128345718 Copy number Lung cancer paired-end sequencing 18438408 chr8 128195101 128625200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 128210407 128210507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128232067 128232167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128232156 128826532 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 128312573 128312673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128312750 128312850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128312872 128312972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12831396 12832396 Gain Renal cell carcinoma References 21215367 chr8 128317459 128319250 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 128323445 128323545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128345346 129528851 Amplification Breast cancer FISH 17142309 chr8 128356483 128356515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128359946 129009581 Copy number Lung cancer paired-end sequencing 18438408 chr8 128376264 128871130 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 128379925 128379979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128385755 128387525 Deletion small cell lung cancer array-CGH 20016488 chr8 128397501 128398750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 128402490 128403490 Gain Renal cell carcinoma References 21215367 chr8 128409154 128409254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12847554 12931653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12847554 12931653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 128477298 128486686 Copy number Colorectal cancer Genome-wide ChIP assay 19561604 chr8 128489422 128489561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 128489433 128489570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1284959 1285249 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 128497039 128498621 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 128497039 128498621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 128497039 128498621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 128497294 128498373 Gain and loss Pancreatic cancer SNP array 17952125 chr8 128529549 128529649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12853236 12909550 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12853236 12909550 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12853236 12909550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 128548643 128955643 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr8 128601055 142578462 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr8 128603030 128622457 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 128606130 129690234 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 128625201 128903500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 128628340 128670251 Amplification Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr8 128655545 128686642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 128680477 128680574 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 128702699 128748146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 128704268 128709312 Amplification Breast cancer Array CGH 17440070 chr8 128704268 128709312 Amplification Congenital anomalies of the kidney and urinary tract Array CGH 17440070 chr8 128704268 128709312 Amplification Lung cancer Array CGH 17440070 chr8 128704268 128709312 Amplification Ovarian cancer Array CGH 17440070 chr8 128704268 128709312 Deletion Cancer Array CGH 17440070 chr8 128705093 128710260 Copy number Lung cancer FISH 19547694 chr8 128710000 128950000 Gain Burkitt's lymphoma 244 K aCGH platform 19759907 chr8 128742289 146263538 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr8 128747764 129113498 Amplification Brain cancer GeneChip Mapping 10K 2.0 Array 19584924 chr8 128747764 129113498 Copy number Renal cell carcinoma Quantitative RT-PCR 17409424 chr8 128748314 128753679 Amplification Prostate cancer aCGH 22341455 chr8 128753680 129113499 Gain Metastatic melanoma FISH, Enzo BioArray CGH Labeling System 18483359 chr8 128753680 129113499 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 chr8 128754508 129388953 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr8 128760986 128761286 Gain Renal cell carcinoma References 21215367 chr8 128761485 128761608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128761665 128762665 Loss Renal cell carcinoma References 21215367 chr8 128765822 128766822 Gain Renal cell carcinoma References 21215367 chr8 128768887 128769887 Loss Renal cell carcinoma References 21215367 chr8 12877139 12877237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128772085 128772805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 128774432 128849112 Amplification Cancer Affymetrix 250K Sty array 20164920 chr8 128774769 128775769 Gain Renal cell carcinoma References 21215367 chr8 128792934 128793934 Loss Renal cell carcinoma References 21215367 chr8 1 28800000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 1 28800000 Loss Prostate cancer Array CGH 16573809 chr8 128800101 128877465 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr8 128801838 129230178 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 128806778 129113498 Amplification Prostate cancer aCGH 22341455 chr8 12881149 12915530 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 128812501 129131500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 128816862 128822853 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 128816862 128822853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 128816862 128822853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 128816869 128817347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 128816901 128817245 Gain and loss Pancreatic cancer SNP array 17952125 chr8 128816946 128822855 Amplification Adenocarcinoma FISH 19001599 chr8 128816946 128822855 Amplification Breast cancer aCGH 22152285 chr8 128816946 128822855 Amplification Breast cancer FISH 21245420 chr8 128816946 128822855 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 128816946 128822855 Amplification Lymphoma quantitative PCR 21969595 chr8 128816946 128822855 Amplification Non-small cell lung cancer FISH 19001599 chr8 128816946 128822855 Amplification Pancreatic cancer Genome Analyser II,MAQ algorithm 20981101 chr8 128816946 128822855 Amplification Phyllodes tumor CGH 17334353 chr8 128816946 128822855 Amplification Squamous cell cancer FISH 19001599 chr8 128816946 128822855 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 128816946 128822855 Deletion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 chr8 128816946 128822855 Deletioneted Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 128816946 128822855 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr8 128816946 128822855 Gain or loss Breast cancer - 20668451 chr8 128816946 128822855 Gain or loss Cancer - 20668451 chr8 128816946 128822855 Gain or loss Lung cancer - 20668451 chr8 128816946 128822855 Gain or loss Ovarian cancer - 20668451 chr8 128816946 128822855 Gain or loss Pancreas cancer - 20668451 chr8 128816946 128822855 Gain or loss Prostate cancer - 20668451 chr8 128816946 128822855 In Colorectal cancer - 20709793 chr8 128816946 128822855 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 chr8 128816946 128822855 Neutral Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 128817686 128822853 Gain and loss Pancreatic cancer SNP array 17952125 chr8 128817686 128822853 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr8 128817686 128822856 Amplification T-cell lymphomas Array-CGH 22341440 chr8 128822387 128822827 Amplification Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr8 128825076 128858450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 128825952 128826252 Gain Renal cell carcinoma References 21215367 chr8 128828742 128829742 Loss Renal cell carcinoma References 21215367 chr8 128835030 128868512 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 128840413 128841413 Loss Renal cell carcinoma References 21215367 chr8 128859930 128860930 Loss Renal cell carcinoma References 21215367 chr8 128870582 129868380 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr8 128871130 128983962 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 128875960 129182681 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 128875961 128893866 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 128875961 128893866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 128875981 128876166 Gain and loss Pancreatic cancer SNP array 17952125 chr8 128875981 128893866 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 128877390 128877456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 128903501 129207100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 128905114 128905249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1289245 1436212 Gain Stenocardia MACArray Karyo 39K BAC-chips 21860640 chr8 1289245 1436212 Gain Vasospasm MACArray Karyo 39K BAC-chips 21860640 chr8 128928406 128928506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 128928517 129516769 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 128939392 129319882 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 128959443 128967351 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 128988442 128988516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129006828 130628052 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 129016034 129017210 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 129019316 129026680 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 129023826 142087104 Copy number Lung cancer paired-end sequencing 18438408 chr8 129029046 129029462 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 129029046 129029462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 129029046 129029462 Gain and loss Pancreatic cancer SNP array 17952125 chr8 129029046 129029462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129042061 129042123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129080559 129080722 Gain and loss Pancreatic cancer SNP array 17952125 chr8 129080559 129080722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129091903 129092039 Gain and loss Pancreatic cancer SNP array 17952125 chr8 129091912 129092039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129091971 129092039 Gain and loss Pancreatic cancer SNP array 17952125 chr8 129105723 129622727 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 129115948 129636803 LOH Normal High-resolution SNP genotyping 21211785 chr8 129122313 129122536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 129130580 129130666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129137828 129137928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12914144 12928045 Gain and loss Pancreatic cancer SNP array 17952125 chr8 129159416 129195156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 12916574 12922059 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 129180000 129340000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr8 129187443 129187543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12919206 110612537 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 12919379 12919479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129199439 129199813 Gain and loss Pancreatic cancer SNP array 17952125 chr8 129207101 129333600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 129208802 129209802 Gain Renal cell carcinoma References 21215367 chr8 129208955 129209955 Gain Renal cell carcinoma References 21215367 chr8 129209314 129209399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129230178 132628342 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 129231544 129231616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129237641 129238641 Loss Renal cell carcinoma References 21215367 chr8 129244761 129244943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129250592 129250692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1292568 1294487 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 129272077 129272198 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 129301932 129302180 Gain and loss Pancreatic cancer SNP array 17952125 chr8 129301932 129302243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129301932 129302259 Gain and loss Pancreatic cancer SNP array 17952125 chr8 129326060 129361327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129333601 129662500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 129363578 130303412 LOH Normal High-resolution SNP genotyping 21211785 chr8 129410292 129410611 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 129421349 129421449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129443813 129443913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129458935 130133429 LOH Normal High-resolution SNP genotyping 21211785 chr8 129461246 129493250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 12946230 12946336 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12946230 12946336 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129483898 129483997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129503741 129545334 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129510676 133098040 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 129521407 129548221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129523191 129569709 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129525544 129544580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129529332 129557079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129530124 129542235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129530558 129540892 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129530774 129544707 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129532201 129542500 Deletion Glioma mate-paired sequence 20126413 chr8 129534336 129540448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 12956474 12956574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129569134 129569234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129633607 129784954 Amplification Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr8 129633607 129784954 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 129662501 129966100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 129665763 130463040 LOH Normal High-resolution SNP genotyping 21211785 chr8 1 29700000 Deletion Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 1 29700000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 chr8 129707797 129708026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129708078 129708185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129710034 130098574 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 129750923 129766746 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 129763003 129779232 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 chr8 129785677 129818007 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129811454 130437645 LOH Normal High-resolution SNP genotyping 21211785 chr8 129831702 129835208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 129834071 129841760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 129836595 129867872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 12985243 13416766 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 12985243 13416766 Gain and loss Pancreatic cancer SNP array 17952125 chr8 12985243 13416766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129901222 129901306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 129942599 129942680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129948441 129948541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 12996601 13089100 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr8 129966101 131458800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 129981614 129981714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 129983455 129983555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 130023929 130024029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 130185878 130197300 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 130185879 130197300 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 130200108 130200208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 130203619 130203719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 130211860 130213708 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 13026941 13565529 LOH Normal High-resolution SNP genotyping 21211785 chr8 130318954 130319054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13035991 13071333 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 130372411 130372654 Gain and loss Pancreatic cancer SNP array 17952125 chr8 130372411 130372654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 130372411 130372713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 130373885 130374019 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 130402316 130402407 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 130434087 130434416 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 130434087 130434416 Gain and loss Pancreatic cancer SNP array 17952125 chr8 130471002 130471102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 130490684 130515217 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 130500001 132000000 Amplification Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chr8 130504372 130512054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 130504378 130512060 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 130530000 130800000 Loss Acute lymphoblastic leukemia - 21339820 chr8 13056908 18810539 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr8 130577823 130578819 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 chr8 130577823 130578819 Deletion Non-syndromic sensorineural hearing loss 370K2 19587683 chr8 130577823 130579250 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 13062058 13062156 Gain and loss Pancreatic cancer SNP array 17952125 chr8 13062058 13062157 Gain and loss Pancreatic cancer SNP array 17952125 chr8 13062058 13062159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 130632144 130632244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 130760441 130799133 Amplification Prostate cancer aCGH 22341455 chr8 130816133 130834897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 130818679 130830357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 130821697 130827766 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 130823819 130830356 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 130824995 130854581 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 130829623 130868316 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 130829624 130868316 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 130829624 130868320 Amplification T-cell lymphomas Array-CGH 22341440 chr8 130829625 130868316 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 130829625 130868316 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 130829625 130868316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 130829929 130859015 Gain and loss Pancreatic cancer SNP array 17952125 chr8 130853715 130951999 Amplification Prostate cancer aCGH 22341455 chr8 130898980 130899079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1309201 1313000 Deletion Glioma mate-paired sequence 20126413 chr8 130922897 131021182 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 130922897 131098079 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 130922900 131021182 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 130922900 131021182 Amplification T-cell lymphomas Array-CGH 22341440 chr8 130922900 131021187 Gain and loss Pancreatic cancer SNP array 17952125 chr8 130922900 131097879 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 130922900 131097879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 13093822 13656113 LOH Normal High-resolution SNP genotyping 21211785 chr8 130943923 130944191 Gain and loss Pancreatic cancer SNP array 17952125 chr8 130943923 130944191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 130950018 130950143 Gain and loss Pancreatic cancer SNP array 17952125 chr8 130950018 130950144 Gain and loss Pancreatic cancer SNP array 17952125 chr8 130950018 130950144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 130984046 131003212 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 1309860 1349389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 131027090 131027185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131041095 131041209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131041257 131041416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131064352 131414216 Amplification Prostate cancer aCGH 22341455 chr8 131065144 131066144 Gain Osteosarcoma References 21215367 chr8 131133534 131483398 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 131133535 131483399 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 131133535 131483399 Amplification T-cell lymphomas Array-CGH 22341440 chr8 131133535 131483399 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 131133535 131483399 Gain and loss Pancreatic cancer SNP array 17952125 chr8 131133535 131483399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 131150964 131151080 Gain and loss Pancreatic cancer SNP array 17952125 chr8 131150974 131151080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 131150995 131151080 Gain and loss Pancreatic cancer SNP array 17952125 chr8 131154575 131154830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 131193724 131197121 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr8 131216815 131217815 Gain Osteosarcoma References 21215367 chr8 1312233 1312296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 131244400 131244555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1313088 1344028 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 131334202 133379412 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 131376782 131377961 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 131377346 140782724 Gain Gastrointestinal stromal cancer Agilent Human Genome CGH Microarray 4x44 Kit 20818650 chr8 131388630 131388686 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 131451870 131451970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131458801 132116600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 131500000 136500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 131500000 136500000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 131500000 136500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 131500000 136500000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr8 131500000 136500000 Gain Gastric cancer Array CGH 16891809 chr8 131500000 136500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr8 131500000 136500000 Inversion Breast cancer transcriptome sequencing 19181860 chr8 131500000 136500000 Inv Pregnancies with abnormal ultrasound findings Cytochip whole-genome BAC array 21110858 chr8 131500000 136500000 Translocation Pregnancies with abnormal ultrasound findings Cytochip whole-genome BAC array 21110858 chr8 131500000 139900000 Amplification Brain cancer GeneChip Mapping 10K 2.0 Array 19584924 chr8 131500000 139900000 Amplification Medulloblastoma GeneChip Mapping 10K 2.0 Array 19584924 chr8 131500000 139900000 Gain Follicular lymphoma Affymetrix 50K-XbaI oligonucleotide SNP chip 17699855 chr8 131500000 140000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 131508687 131527933 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 131508949 131527933 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 131510000 146260000 Loss Acute lymphoblastic leukemia - 21339820 chr8 1315445 1315542 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr8 131547834 131548008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1316237 1316272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131651294 131651394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131701398 131701498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131705146 131716762 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 131757903 131758229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 13176690 13176840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1317698 1343849 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 131777035 131777135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131777106 131777196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131789784 133379412 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 131792546 132052834 Amplification Prostate cancer aCGH 22341455 chr8 131801340 131801415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131816260 131816330 Gain and loss Pancreatic cancer SNP array 17952125 chr8 131816260 131816330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 131861137 131861197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 131861728 132122017 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 131861729 132123854 Amplification T-cell lymphomas Array-CGH 22341440 chr8 131861736 132123854 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 131861736 132123854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 131861736 132123854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 131861779 132123854 Gain and loss Pancreatic cancer SNP array 17952125 chr8 131895176 131895276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 131919870 131921697 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 131919931 131921918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 131919946 131922037 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 131922039 131923039 Gain Renal cell carcinoma References 21215367 chr8 132028323 132028423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132055376 132090399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 13206097 13207097 Gain Chordoma References 21215367 chr8 132063003 132064003 Loss Renal cell carcinoma References 21215367 chr8 13207928 13208928 Gain Osteosarcoma References 21215367 chr8 132096793 132096858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13210727 13211727 Loss Osteosarcoma References 21215367 chr8 132116601 132825000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 132121001 132124000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 13213944 13214263 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 132160730 132162782 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 132191319 132236690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 1 32218000 LOH Colorectal cancer 50 K SNP array 21297112 chr8 1322310 1349008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 132237466 132237778 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 132311939 132312506 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 132321171 132321289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132321951 132356206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 13237022 13238022 Gain Osteosarcoma References 21215367 chr8 13243040 13243140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1324638 1351225 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 132491438 132491538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132514205 132514333 Gain and loss Pancreatic cancer SNP array 17952125 chr8 132514205 132514384 Gain and loss Pancreatic cancer SNP array 17952125 chr8 132526510 132526595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132551331 132551492 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1326327 1954169 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 132644501 132645500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 13268473 13269473 Gain Osteosarcoma References 21215367 chr8 132724309 132724474 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1327422 1358228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 1327444 1343811 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 13275530 13276530 Gain Osteosarcoma References 21215367 chr8 13277730 13277830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1328001 1343000 Loss Normal TaqMan assays 20972442 chr8 1328098 1344246 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 1328110 1343852 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 1328110 1343852 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 132823605 132823700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132825001 132900900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 132825863 132825903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132847940 132852382 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 132852103 146225933 Gain Developmental delay affymetrix genechip 500K/SNP 6.37 array 21147756 chr8 132871576 132871662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132872907 132873007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132900901 133103300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 132913902 134998490 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 132916358 133025773 Amplification Prostate cancer aCGH 22341455 chr8 1329501 1343000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 132954177 132954272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13295432 15139503 Gain Autism Exome sequencing and CGH 22495309 chr8 132982272 133092324 Amplification T-cell lymphomas Array-CGH 22341440 chr8 132985517 133095071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 132985517 133095071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 132985540 133094953 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 132985549 133094951 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 132985550 133094951 Gain and loss Pancreatic cancer SNP array 17952125 chr8 132990992 132991059 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 132991649 132991732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133035905 133036050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133036466 133071626 Amplification Prostate cancer aCGH 22341455 chr8 133043314 133043414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133060267 133063758 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 133069658 133069742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133069835 133070348 Loss Normal 244K array 17666407 chr8 133073732 133117511 Amplification Prostate cancer aCGH 22341455 chr8 133083069 133083166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133099014 134188567 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 1331009 1343478 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr8 133103301 133837000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 133105666 133167084 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 133105667 133167084 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 133105667 133167084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 133105667 133167084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 133105909 133131298 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 133105910 133136455 Gain and loss Pancreatic cancer SNP array 17952125 chr8 133129820 133130762 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 133141255 133493003 Amplification Prostate cancer aCGH 22341455 chr8 133141821 133141911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133145212 133162535 Gain and loss Pancreatic cancer SNP array 17952125 chr8 133161488 133194917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 133200518 133261022 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 133210437 133562186 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 133210437 133562186 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 133210438 133561961 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 133210438 133561961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 133210438 133561961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 133210438 133562186 Amplification T-cell lymphomas Array-CGH 22341440 chr8 133210441 133561961 Gain and loss Pancreatic cancer SNP array 17952125 chr8 133221515 133221515 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr8 133242051 133242117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 133290122 133290209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133345382 133354156 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 1333474 1360582 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 13340300 13360557 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 133470532 133650145 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 133470532 133754071 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 133470532 133754071 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 133493298 133493353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1 33500000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr8 133564090 133754071 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 133584446 133687812 Amplification Prostate cancer aCGH 22341455 chr8 133603327 133604327 Gain Renal cell carcinoma References 21215367 chr8 133652414 133652514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133653628 133756995 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 133653631 133756995 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 133653631 133756995 Amplification T-cell lymphomas Array-CGH 22341440 chr8 133653631 133756995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 133653631 133756995 Gain and loss Pancreatic cancer SNP array 17952125 chr8 133653631 133756995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 133663679 133663748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133695549 133695581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13371901 13372001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133722190 133772913 Amplification Prostate cancer aCGH 22341455 chr8 133722325 133722425 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133741996 133763038 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 133758654 133759654 Loss Renal cell carcinoma References 21215367 chr8 133762328 133762430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 133779633 133842010 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 133779633 133842010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 133779633 133842010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 133787603 133861051 Amplification Prostate cancer aCGH 22341455 chr8 133791375 133842010 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 133791376 133842010 Amplification T-cell lymphomas Array-CGH 22341440 chr8 133791376 133842010 Gain and loss Pancreatic cancer SNP array 17952125 chr8 133827807 133827916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 133839469 134855058 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 133839469 135307669 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 133856785 133930234 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 133856786 133906768 Gain and loss Pancreatic cancer SNP array 17952125 chr8 133856786 133929285 Amplification T-cell lymphomas Array-CGH 22341440 chr8 133856786 133930234 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 133856786 133930234 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 133856786 133930234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 133879204 134147142 Amplification Prostate cancer aCGH 22341455 chr8 133913661 133928255 Gain and loss Pancreatic cancer SNP array 17952125 chr8 133921212 133922212 Loss Renal cell carcinoma References 21215367 chr8 133938201 134950200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 133943501 134264000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 133948386 134216325 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 133948387 134216323 Amplification T-cell lymphomas Array-CGH 22341440 chr8 133948387 134216323 Gain and loss Pancreatic cancer SNP array 17952125 chr8 133948387 134216325 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 133948387 134216325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 133948387 134216325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 133950488 133951058 Loss Normal 244K array 17666407 chr8 133955839 133955931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 133966699 133969713 Gain Normal 244K array 17666407 chr8 134036454 134036548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 134048972 134115309 Amplification Prostate cancer aCGH 22341455 chr8 134048972 134115310 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 134054679 134054836 Gain Normal 244K array 17666407 chr8 134069889 134070082 Loss Normal 244K array 17666407 chr8 134102753 134103460 Loss Normal 244K array 17666407 chr8 1341113 1341334 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 134118154 134184479 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 134118155 134184479 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 134118155 134184479 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 134118155 134184479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134118156 134141628 Amplification T-cell lymphomas Array-CGH 22341440 chr8 134118156 134184099 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134125023 134154254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 134162735 134163857 Gain Normal 244K array 17666407 chr8 134164054 134164151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 134190056 137704813 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 134203281 134243932 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 134203311 134241570 Amplification Prostate cancer aCGH 22341455 chr8 134205437 134206958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 134214347 134248154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 134244673 134344801 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr8 134249413 134309546 Amplification Prostate cancer aCGH 22341455 chr8 134249413 134309547 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 134257276 134257427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 134264001 134380000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134272493 134310753 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 134272494 134310751 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 134272494 134310751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 134272494 134310751 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134272494 134310751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134272494 134310753 Amplification T-cell lymphomas Array-CGH 22341440 chr8 1343001 1497000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134310466 134310515 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 134318595 134379011 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 134318595 134379011 Copy number Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 134318596 134378680 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 134318596 134378680 Amplification T-cell lymphomas Array-CGH 22341440 chr8 134318596 134378680 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 134318596 134378680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134318601 134379011 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134380001 134529500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134398627 134398948 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 134407422 134407829 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134429184 134429388 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 134467090 134584182 Amplification Prostate cancer aCGH 22341455 chr8 134475099 134475193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 134489413 134490567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134489431 134490513 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134492677 134493007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 134510048 134543698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 134529501 134580500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134540324 134653344 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 134540327 134653344 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 134540327 134653344 Amplification T-cell lymphomas Array-CGH 22341440 chr8 134540327 134653344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 134540327 134653344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134540327 134653349 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134553939 134598817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 134580501 134606000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134606001 134607500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134606834 134609434 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 134606834 134609434 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134606834 134609434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134607501 134651000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134608299 134609299 Loss Renal cell carcinoma References 21215367 chr8 1346118 1348109 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 134636176 134636435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134647332 134647632 Loss Renal cell carcinoma References 21215367 chr8 134651001 134654500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 13468723 13470167 Gain and loss Pancreatic cancer SNP array 17952125 chr8 13468870 13469855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 13470305 13470405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 134726022 134726150 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134726023 134726150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134727479 134727511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 134795612 134813891 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 134795696 134827360 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 1348109 1348244 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 134836879 134836946 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134836879 134836946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134836956 134837024 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134836956 134837024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134837037 134837098 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134837037 134837098 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134837126 134837192 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134837126 134837192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 134837192 134837257 Gain and loss Pancreatic cancer SNP array 17952125 chr8 134838501 134839500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134841183 134841750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 134869448 134869543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 134889782 134889881 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 134950201 136518800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 134955522 135000202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 134956625 134956710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 134972052 134972137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1349781 1355423 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 134984532 135307669 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 134987201 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 1349885 1355423 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 1349885 1357659 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 135034293 135034402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 135095314 135105798 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 135095448 135107781 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 135128590 135137337 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 135128590 135137337 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 135128781 135137265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 135130437 135135890 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 135133365 135172326 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 135141298 135188617 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 135145695 135166202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 135146033 135159335 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 135150459 135173658 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 135152096 135158197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1351626 1358119 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 135207817 135207904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135223779 135235126 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 135261511 135262511 Gain Renal cell carcinoma References 21215367 chr8 135263423 135265083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 135266376 135266523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135274289 135275289 Gain Renal cell carcinoma References 21215367 chr8 135275106 135275206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135284050 144564750 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 135300913 135300974 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 135317402 135317497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135329445 135330445 Loss Renal cell carcinoma References 21215367 chr8 135349053 135349141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135364501 135366500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 135376730 135472827 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 135453505 135453605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135459132 135460132 Gain Renal cell carcinoma References 21215367 chr8 1354769 1355423 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 135481194 135481294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135490030 135725291 Amplification Prostate cancer aCGH 22341455 chr8 135492083 135492183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135493917 135493977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135526501 135579000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 135534499 135535499 Loss Renal cell carcinoma References 21215367 chr8 135536547 135536642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 135544946 135545046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135559212 135794463 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 135559215 135794463 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 135559215 135794463 Amplification T-cell lymphomas Array-CGH 22341440 chr8 135559215 135794463 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 135559215 135794463 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 135559217 135794474 Gain and loss Pancreatic cancer SNP array 17952125 chr8 135579001 135581000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 135581001 135826500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 135582598 135607088 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 135585139 135610902 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 135593627 135593727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135611010 135612010 Gain Osteosarcoma References 21215367 chr8 135672338 135672438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135678295 135678350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135678550 135678850 Gain Renal cell carcinoma References 21215367 chr8 135679495 135682114 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 135725398 135725466 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13576192 13576293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 135762196 135763196 Gain Osteosarcoma References 21215367 chr8 135762905 136356462 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 135763578 135763878 Gain Renal cell carcinoma References 21215367 chr8 135796254 135796354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135812762 135812849 Amplification Prostate cancer aCGH 22341455 chr8 13581607 13896999 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 135817118 135817187 Amplification Prostate cancer aCGH 22341455 chr8 13586559 13587559 Loss Renal cell carcinoma References 21215367 chr8 135881945 135882032 Gain and loss Pancreatic cancer SNP array 17952125 chr8 135881945 135882032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 135886296 135886376 Gain and loss Pancreatic cancer SNP array 17952125 chr8 135886301 135886370 Amplification Acute myeloid leukemia BAC aCGH 20962326 chr8 135886301 135886370 Gain and loss Pancreatic cancer SNP array 17952125 chr8 135886301 135886370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 135943659 135943748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13594555 13803591 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 135959581 135959681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 135961522 136356462 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 135980355 135984862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 135989274 135989374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 136060356 136060704 Gain and loss Pancreatic cancer SNP array 17952125 chr8 136060356 136060710 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 136073825 136074125 Loss Renal cell carcinoma References 21215367 chr8 136231961 136235353 Gain and loss Pancreatic cancer SNP array 17952125 chr8 136237999 136238093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 136239052 136239120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 136272224 136272224 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 136274548 136290136 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 136277133 136290136 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 136279793 136324607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 136287560 136289300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 136327778 136328767 Gain and loss Pancreatic cancer SNP array 17952125 chr8 136340239 136341239 Loss Renal cell carcinoma References 21215367 chr8 136353951 136353988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13638836 13638999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 136400000 146364022 Gain Pilocytic astrocytoma Array CGH 18622384 chr8 136400000 146364022 Gain Pilomyxoid astrocytoma Array CGH 18622384 chr8 13640499 13640599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13643410 13647847 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 13643472 13644762 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 136453548 136453593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 136469715 136659848 Amplification Prostate cancer aCGH 22341455 chr8 136473909 136474003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13647613 14505029 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 136500000 140000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 136500000 140000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 136500000 146274826 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 136500000 146274826 Deletion Medulloblastoma SNP arrays 21979893 chr8 1 36500000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr8 1 36500000 Loss Breast cancer Microarray-based CGH 17133270 chr8 136507113 136507207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13650883 13651016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 136518801 136695900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 136538882 136729020 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 136538884 136729028 Gain and loss Pancreatic cancer SNP array 17952125 chr8 136538890 136729028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 136538890 136729028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 136538897 136729030 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 136538898 136729031 Amplification T-cell lymphomas Array-CGH 22341440 chr8 13658495 13695758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 136593241 136594930 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 136595795 136596285 Deletion Breast cancer Illumina 1M duo array 20393555 chr8 13661922 13696878 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 136689262 136707715 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 136692562 136703794 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 136692562 136707715 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 136692562 136709636 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 136692574 136694147 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 136695901 137151300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 136708194 136708246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 136768089 137892295 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 1368018 1964808 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 136823724 136823920 Gain and loss Pancreatic cancer SNP array 17952125 chr8 136823768 136823920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 136823790 136823920 Gain and loss Pancreatic cancer SNP array 17952125 chr8 136867478 136867534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 136901529 136901658 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 136904963 136905063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 136916602 136916721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 136948578 136948678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 136975969 139158336 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 136987101 136987348 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 137019252 137019478 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137035950 137036892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 137077945 137090840 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 137114991 137147092 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 137115954 137145005 Gain and loss Pancreatic cancer SNP array 17952125 chr8 137140001 137141500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 137151301 138897000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 137183845 137183945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137202259 137202479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 13720448 13735593 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 137223455 137223548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137224999 137225099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137225929 137240984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 137226524 137244164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 137228828 137233155 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 137229001 137233000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 137229374 137233056 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 137229378 137233080 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 137275501 137277500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 137278076 137278176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137307777 137308094 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 137328228 137329228 Gain Renal cell carcinoma References 21215367 chr8 137349502 137349599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13737829 13738829 Loss Renal cell carcinoma References 21215367 chr8 137408686 137408986 Gain Renal cell carcinoma References 21215367 chr8 137411964 137412964 Gain Renal cell carcinoma References 21215367 chr8 137454497 137467103 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 137489525 137489825 Loss Renal cell carcinoma References 21215367 chr8 137491376 137492376 Gain Renal cell carcinoma References 21215367 chr8 137516557 137516657 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137546185 137546285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137564916 137565016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137569244 137569344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137585971 138028745 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 137585971 138040412 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 137611501 137612500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 137653249 137653349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137658650 138046331 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 137684491 137684588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137694669 137724756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 137705132 140616426 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 137726741 137757412 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 137746964 137916504 Copy number Lung cancer paired-end sequencing 18438408 chr8 137748271 137931330 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 137749465 137931551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 137750326 137922689 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 137750326 137924233 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 137750326 137931330 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 137750326 137948168 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 137750326 137956242 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 137750801 137925496 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 137750801 137925496 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 137750801 137931292 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 137750801 137931365 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 137750801 137931365 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 137750801 137931617 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 137750801 137931617 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 137750801 137933108 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 137752627 137931330 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 137752921 137753021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137754694 137919337 Loss Normal 244K array 17666407 chr8 137757137 137931617 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr8 137757137 137955330 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 137760390 138040412 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 137763429 137774880 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 137785996 137786321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 137790000 146000000 Amplification Sezary syndrome Array-based CGH 18413736 chr8 137790974 137791074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137807984 137823638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 137814469 137843409 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 137841729 137841829 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13784748 13785748 Loss Renal cell carcinoma References 21215367 chr8 137878781 137878881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137893919 137925496 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 137893919 137930171 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 137893919 137931617 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 137906419 137930861 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 137906419 137956153 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 137932726 146274826 Copy number Lung cancer paired-end sequencing 18438408 chr8 137959012 137959112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 137976833 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 137985658 137985758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138010273 138585968 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 138022918 138023065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138034988 138035100 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 138054380 138179533 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr8 138070001 138071500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 138095461 138095561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138186777 138186883 Gain and loss Pancreatic cancer SNP array 17952125 chr8 138186777 138186883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 138189361 138189461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138195037 138196750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 13822431 13822756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 138268346 138268446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138269345 138269589 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1 38300000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 1 38300000 Loss Prostate cancer Array CGH 16573809 chr8 138354889 138354989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138371075 138371175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138413221 138669893 Amplification Breast cancer FISH 17142309 chr8 138494536 138494635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1 38500000 Deletion Medulloblastoma SNP arrays 21979893 chr8 1 38500000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr8 1 38500000 Loss Breast cancer Conventional CGH 17393978 chr8 1 38500000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 chr8 138502485 138503485 Loss Renal cell carcinoma References 21215367 chr8 13854600 13859608 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 1 38563227 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-597K arrays 21546498 chr8 138748500 138761878 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 138778149 138779200 Gain and loss Pancreatic cancer SNP array 17952125 chr8 138791045 138791124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138798601 138799601 Gain Renal cell carcinoma References 21215367 chr8 138810101 138814900 Deletion Glioma mate-paired sequence 20126413 chr8 138812148 138813043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 138833283 138833383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138836001 138837000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 138856303 138856403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138870083 138871639 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 138886322 138888624 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 138890001 138896800 Deletion Glioma mate-paired sequence 20126413 chr8 138891936 138894916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 138891980 138894551 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 138897001 139225900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 138924823 138925823 Gain Renal cell carcinoma References 21215367 chr8 138928001 138932100 Deletion Glioma mate-paired sequence 20126413 chr8 138929731 138930054 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 138952328 139158336 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 138969304 138969397 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 138978343 138978557 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 138979784 138980084 Loss Renal cell carcinoma References 21215367 chr8 139008565 139008665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139038942 139039042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139119340 140149271 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 139142265 139509064 Amplification Prostate cancer aCGH 22341455 chr8 139186859 139186891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139187001 139187081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139211447 139578247 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 139211448 139578247 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 139211448 139578247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 139211448 139578247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 139214018 139220510 Gain and loss Pancreatic cancer SNP array 17952125 chr8 139221540 139221615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139224287 139233829 Gain and loss Pancreatic cancer SNP array 17952125 chr8 139225901 141477600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 1 392555 Deletion Cancer Affymetrix 250K Sty array 20164920 chr8 139275810 140149271 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 139301569 146133708 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr8 139307227 139307322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13933200 13933291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 139332265 139449408 Gain and loss Pancreatic cancer SNP array 17952125 chr8 139332265 139449408 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr8 139357046 139357095 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 13937798 13937960 Loss Normal 244K array 17666407 chr8 139395162 139397649 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 139397059 139397123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139439364 139439458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139456210 139491050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 13947372 15095791 Deletion Prostate cancer aCGH 22341455 chr8 1 39500000 Gain Medulloblastoma SNP arrays 21979893 chr8 1 39500000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 1395101 1399500 Deletion Glioma mate-paired sequence 20126413 chr8 139573401 139573501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139575414 139613806 Indels Normal Affymetrix and Illumina arrays 20811451 chr8 139583045 141890601 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.9 ST arrays. 21853135 chr8 139583045 142231340 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.10 ST arrays. 21853135 chr8 139583153 139696358 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 139600272 139602955 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 139600477 139926235 Amplification Prostate cancer aCGH 22341455 chr8 139612485 139642220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 139633101 139633167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139633656 139633705 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 139644075 139644124 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 139655501 140705000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 139669659 139995418 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 139669661 139995418 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 139669661 139995418 Amplification T-cell lymphomas Array-CGH 22341440 chr8 139669661 139995418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 139669661 139995418 Gain and loss Pancreatic cancer SNP array 17952125 chr8 139669661 139995418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 139673855 139710601 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 13967960 17118468 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr8 139683712 139710601 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 139686046 139686116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139687936 141713358 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr8 139691257 139710601 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 139692496 139692596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1 39700000 Loss Prostate cancer Array CGH 16573809 chr8 139725272 139725572 Gain Renal cell carcinoma References 21215367 chr8 139738870 139738959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139789147 139789247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13981009 13981109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139831188 139831229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139834370 140406262 LOH Normal High-resolution SNP genotyping 21211785 chr8 139842317 139842383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 139879516 139879579 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 139884813 139884877 Gain and loss Pancreatic cancer SNP array 17952125 chr8 139884813 139884877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 139900000 146364022 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr8 139900000 146364022 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr8 139900000 146364022 Gain Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr8 139900000 146364022 Gain Esophageal squamous carcinoma Array CGH 17470683 chr8 139900000 146364022 Gain Gastric cancer Array CGH 16891809 chr8 139900000 146364022 Gain Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr8 139900000 146364022 Gain head and neck squamous cell carcinoma MLPA 16740747 chr8 139900000 146364022 Gain Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 chr8 139900000 146364022 Gain Lung cancer MACArray Karyo 1.4K BAC chip 17086460 chr8 139900000 146364022 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr8 139900000 146364022 Gain Pilocytic astrocytoma Array CGH 18622384 chr8 139900000 146364022 Gain Pilomyxoid astrocytoma Array CGH 18622384 chr8 139900000 146364022 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr8 1 39900000 Loss Prostate cancer Array CGH 16573809 chr8 13990213 13990313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 13991707 31607745 Loss Bladder cancer array-CGH 21909424 chr8 13991744 15140219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 13991744 15140219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 13991907 27096907 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr8 13992323 14456806 Gain and loss Pancreatic cancer SNP array 17952125 chr8 140000000 146274826 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chr8 140000000 146274826 Amplification Normal Refference 21823210 chr8 140000000 146274826 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 140000000 146274826 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr8 140000000 146274826 Copy number Breast cancer - 21806811 chr8 140000000 146274826 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 140000000 146274826 Copy number Squamous cell cancer aCGH 20885788 chr8 140000000 146274826 Deletion Chylomicronemia SNP chips 22008945 chr8 140000000 146274826 Deletion Normal Refference 21823210 chr8 140000000 146274826 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 140000000 146274826 Duplication Heart disease Illumina 619Quad Beadchip platform 21282601 chr8 140000000 146274826 Gain Breast cancer - 16397240 chr8 140000000 146274826 Gain Chordoma Array CGH 21602918 chr8 140000000 146274826 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr8 140000000 146274826 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 140000000 146274826 Gain Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 chr8 140000000 146274826 Gain Multiple myeloma CGH, FISH 16461302 chr8 140000000 146274826 Gain Myxofibrosarcoma Array CGH 16751306 chr8 140000000 146274826 Gain Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chr8 140000000 146274826 Gain Normal Human genome CGH 63k ARRAY PLATFORM 22144094 chr8 140000000 146274826 Gain Ovarian cancer Affymetrix 20844748 chr8 140000000 146274826 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr8 140000000 146274826 Increases Breast cancer Fluorescence in situ hybridization (FISH) and immunohistochemistry 20814816 chr8 140000000 146274826 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr8 140000000 146274826 Loss Normal Human genome CGH 69k ARRAY PLATFORM 22144094 chr8 140012162 140012262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140083650 140083766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 140083702 140083779 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr8 140093881 140093981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140102896 140117896 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 140110243 140110393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1401170 14153760 Copy number Autism exome sequencing 22495311 chr8 140126111 140126160 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 140189855 140189978 Gain and loss Pancreatic cancer SNP array 17952125 chr8 140189856 140189942 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1 40196337 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-605K arrays 21546498 chr8 140204129 140237941 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 140211765 140211833 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 140225759 140225839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140230547 140230739 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 140260238 140260311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140323486 140323535 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 140326524 140328367 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 140371570 140540702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 140387949 140388082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140416210 140416259 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 140450000 141700000 Gain Ductal carcinoma SNP array 22052326 chr8 140458177 146274826 Amplification Cancer Affymetrix 250K Sty array 20164920 chr8 140490396 140490440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140496145 140541183 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 140544441 140544772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 140581127 140608779 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 140593458 140634761 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 140618842 143749232 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 140624803 140715298 Amplification Prostate cancer aCGH 22341455 chr8 140635892 140635973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140648461 140649461 Loss Renal cell carcinoma References 21215367 chr8 140654474 140698887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 140673910 140677571 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 140682263 140784481 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 140693065 140693114 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 140693986 140784481 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 140693986 140784481 Amplification T-cell lymphomas Array-CGH 22341440 chr8 140693986 140784481 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 140693986 140784481 Gain and loss Pancreatic cancer SNP array 17952125 chr8 140693986 140784481 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 140698696 140698745 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 140701232 141264442 Loss Chronic lymphocytic leukemia Affymetrix SNP 6.0 array 21670202 chr8 140705001 140929500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 140709258 140709343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140742585 141468677 Amplification Prostate cancer aCGH 22341455 chr8 140742588 141468678 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 140751136 140797606 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 140759034 140759429 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 140761613 140761713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140763131 140763226 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140774059 140796877 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 140811769 141537860 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 140811769 141537860 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 140811770 141537845 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 140811770 141537845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 140811770 141537845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 140811770 141537860 Amplification T-cell lymphomas Array-CGH 22341440 chr8 140811770 141537860 Gain and loss Pancreatic cancer SNP array 17952125 chr8 140828860 140829807 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 140842856 140843156 Loss Renal cell carcinoma References 21215367 chr8 140843361 140844361 Loss Renal cell carcinoma References 21215367 chr8 14084481 14092762 Copy number Autism exome sequencing 22495311 chr8 140850259 140850308 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 140889797 140889890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140920679 140920779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 140929501 141064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 140971097 140971176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141012598 141015372 Gain and loss Pancreatic cancer SNP array 17952125 chr8 141013712 141014011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 141013712 141014011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 141023285 141023379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141042445 141042545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141047823 141048028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141048103 141048236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141054373 141054427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141064501 141176500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 141079218 141079296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141118070 141153097 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 141129476 141129552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141131374 141131423 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 141165629 141165729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141176501 141179500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 141181115 141213824 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 141189636 141189852 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 141191828 141191877 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 141202813 141253182 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr8 141236343 141236676 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 141278787 141278850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 141362713 141362789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141375899 141376162 Gain and loss Pancreatic cancer SNP array 17952125 chr8 141396621 141396670 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 141477601 142084800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 141521400 141527251 Amplification Prostate cancer aCGH 22341455 chr8 141541263 141645645 Amplification Prostate cancer aCGH 22341455 chr8 1415573 1415663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141561205 141561305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 14156577 14157577 Loss Chordoma References 21215367 chr8 141571747 141572747 Loss Osteosarcoma References 21215367 chr8 141590586 141596434 Amplification T-cell lymphomas Array-CGH 22341440 chr8 141590586 141596434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 141590586 141596434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 141590781 141594528 Gain and loss Pancreatic cancer SNP array 17952125 chr8 141596070 141596119 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 141610446 141714827 Amplification T-cell lymphomas Array-CGH 22341440 chr8 141610447 141714827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 141610447 141714827 Gain and loss Pancreatic cancer SNP array 17952125 chr8 141610447 141714827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 141610518 141714814 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 141611501 141717500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 141627985 141641730 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 141641416 141673979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 141647523 141647904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 141668480 142011412 Gain Esophageal adenocarcinoma MLPA 18820669 chr8 141668500 142011331 Amplification Prostate cancer aCGH 22341455 chr8 141670315 141705434 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 14169575 14169670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141721647 142483508 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr8 141737672 142080514 Gain and loss Pancreatic cancer SNP array 17952125 chr8 141737682 142080514 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 141737682 142080514 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr8 141737682 142080514 Gain or loss Breast cancer - 20668451 chr8 141737682 142080514 Gain or loss Cancer - 20668451 chr8 141737682 142080514 Gain or loss Lung cancer - 20668451 chr8 141737682 142080514 Gain or loss Ovarian cancer - 20668451 chr8 141737682 142080514 Gain or loss Pancreas cancer - 20668451 chr8 141737682 142080514 Gain or loss Prostate cancer - 20668451 chr8 141737683 142080514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 141737683 142080514 Amplification T-cell lymphomas Array-CGH 22341440 chr8 141737683 142080514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 141737683 142080514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 141738135 142080483 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 141742662 141742751 Amplification Prostate cancer aCGH 22341455 chr8 141748675 141748775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141775822 141776822 Gain Osteosarcoma References 21215367 chr8 141811845 141811934 Amplification Acute myeloid leukemia BAC aCGH 20962326 chr8 141811845 141811934 Gain and loss Pancreatic cancer SNP array 17952125 chr8 141811845 141811934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 141889501 141890500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 1419053 1419144 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 141934620 141934851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 141981125 141981225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 141999833 142000833 Gain Renal cell carcinoma References 21215367 chr8 142019832 142019945 Gain and loss Pancreatic cancer SNP array 17952125 chr8 142019832 142019945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142028501 142030000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 14203336 14203423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142079501 142126000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142084801 144058200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142101716 146274826 Copy number Lung cancer paired-end sequencing 18438408 chr8 14210897 14211554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 14210906 14211554 Gain and loss Pancreatic cancer SNP array 17952125 chr8 142134001 142284500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142138719 142205900 Amplification Prostate cancer aCGH 22341455 chr8 142155656 142275080 Amplification T-cell lymphomas Array-CGH 22341440 chr8 142173802 146250824 Gain Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 chr8 142176247 142176347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142207902 142275077 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 142207902 142275077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 142207902 142275077 Gain and loss Pancreatic cancer SNP array 17952125 chr8 142207902 142275077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 14221336 14221396 Gain and loss Pancreatic cancer SNP array 17952125 chr8 142220869 142238672 Amplification Prostate cancer aCGH 22341455 chr8 1422246 3652163 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr8 142236682 142255547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 142236682 142255547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142247339 142247414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142248984 142338396 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 142274733 146092035 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr8 142284501 142311500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142286455 142307855 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 142286456 142299091 Gain and loss Pancreatic cancer SNP array 17952125 chr8 142286845 142287423 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 142290052 142307855 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 142290052 142307855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 142290052 142307855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142290723 142333504 Amplification T-cell lymphomas Array-CGH 22341440 chr8 142291249 142324812 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142311501 142391000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 14234435 14234541 Gain and loss Pancreatic cancer SNP array 17952125 chr8 14234435 14234543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142358652 142403688 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142366584 142377364 Amplification Prostate cancer aCGH 22341455 chr8 142387234 142657856 Gain and loss Pancreatic cancer SNP array 17952125 chr8 142391001 142429000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142397467 142423004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142414797 142415190 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr8 142416502 142416599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142428444 142726810 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr8 142429001 142522000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142432006 142441619 Amplification Prostate cancer aCGH 22341455 chr8 142432006 142441620 Gain Esophageal adenocarcinoma MLPA 18820669 chr8 142435767 142446547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 142435767 142446547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 142435767 142446547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142435768 142446547 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 142436129 142437205 Amplification T-cell lymphomas Array-CGH 22341440 chr8 142443928 142517329 Amplification Prostate cancer aCGH 22341455 chr8 142466867 142472633 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142467510 142467582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 14247492 14563961 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 142489554 142502422 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142489700 142505732 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142490156 142498579 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142491977 142495873 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142492114 142495989 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142501188 142510802 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 142501189 142510802 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 142501189 142510802 Amplification T-cell lymphomas Array-CGH 22341440 chr8 142501189 142510802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 142501189 142510802 Gain and loss Pancreatic cancer SNP array 17952125 chr8 142501189 142510802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142513110 142586512 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 142513114 142586512 Amplification T-cell lymphomas Array-CGH 22341440 chr8 142513827 142517232 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 142513827 142517232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142516272 142516530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 142522001 142531500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142526758 142526831 Gain and loss Pancreatic cancer SNP array 17952125 chr8 142526758 142526831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142538369 142539277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 142545001 142560000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142552457 142552556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142567001 142576000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142567758 142590455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142577757 142577796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142582575 142707176 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 142586001 142822000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142603588 142603688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142613661 142613740 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142650593 142650663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142672610 142672705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142695540 142715610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142702243 142736783 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142709773 142714238 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 142715853 142715926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142747126 142748126 Loss Osteosarcoma References 21215367 chr8 142747678 142748678 Gain Osteosarcoma References 21215367 chr8 142754129 143356971 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr8 14278669 14279669 Loss Osteosarcoma References 21215367 chr8 142832001 142880500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142836270 142867429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142845320 142862958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142845370 142846370 Gain Osteosarcoma References 21215367 chr8 142852568 142864621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 142856062 142856126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142880501 142931500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142923949 142926302 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 142925500 142932176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 142926302 142926304 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 142926304 142927999 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 142927999 142929422 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 142929422 142931358 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 142931501 142939500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142939501 142947000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142940048 142940248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 142947001 142999000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 142980308 142980456 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 142999001 143023000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143004908 143004999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143023001 143027500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143024767 143024893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143027501 143050500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143050501 143079000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143057210 143057279 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143067903 143688840 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 chr8 143072860 143072960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143073917 143074163 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 143079001 143104500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 1 43100000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 1 43100000 Loss Prostate cancer Array CGH 16573809 chr8 143104501 143117000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143117001 143127000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143127001 143137500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143137501 143144500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143139435 143139525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143144501 143168000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143168001 143352500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143175062 143175514 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 143211215 146250765 Increase Cancer CGH 20581869 chr8 143262634 143262691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143268033 143634461 Gain Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 chr8 143269816 143269909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143277624 143288269 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143278606 143278705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143281156 143281240 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143282748 143282835 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 143289259 143289344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143291347 143482444 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143291347 143482444 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6. 19966786 chr8 143291349 143482444 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 143291349 143482444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143291349 143482444 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143291349 143482444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143306222 143306326 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 143309560 143736649 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 143326852 143327134 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143326853 143327134 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143326855 143327134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143332751 143332811 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 143352501 143386000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143374709 143377003 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr8 143386001 143518500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143392477 143392799 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 143395422 143396265 Gain Normal 244K array 17666407 chr8 143429248 143429466 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 143461547 144770188 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.11 ST arrays. 21853135 chr8 143474860 143475860 Gain Osteosarcoma References 21215367 chr8 143518501 143625500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143534765 144284068 LOH Normal High-resolution SNP genotyping 21211785 chr8 143542378 143623370 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143542378 143623370 Copy number Lung cancer - 20668451 chr8 143542378 143623370 Gain or loss Breast cancer - 20668451 chr8 143542378 143623370 Gain or loss Cancer - 20668451 chr8 143542378 143623370 Gain or loss Lung cancer - 20668451 chr8 143542378 143623370 Gain or loss Ovarian cancer - 20668451 chr8 143542378 143623370 Gain or loss Pancreas cancer - 20668451 chr8 143542378 143623370 Gain or loss Prostate cancer - 20668451 chr8 143542379 143623348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143542379 143623348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143542379 143623369 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143542379 143623370 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143545376 143626367 Amplification Prostate cancer aCGH 22341455 chr8 143580693 143580756 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 14359029 14359129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 14359682 29057436 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-595K arrays 21546498 chr8 143598819 143598899 Amplification Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chr8 143606109 143606234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143625501 143647500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143631938 143654534 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 143647501 143717500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143678295 143678345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143689412 143692835 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143689412 143692835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143689412 143692835 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143689412 143692835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143692409 143695832 Amplification Prostate cancer aCGH 22341455 chr8 1436939 1644048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 1436939 1644048 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1436939 1644048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143717501 143732500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143730000 143900000 Gain Acute lymphoblastic leukemia - 21339820 chr8 143732501 143763000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143735875 143748403 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143735877 143742849 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143738873 143751400 Amplification Prostate cancer aCGH 22341455 chr8 143740950 143744929 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143751725 143764144 Amplification Prostate cancer aCGH 22341455 chr8 143758876 143761145 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143758877 143761144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143758877 143761144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143758915 143761107 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143758926 143761144 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143759705 143760100 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143778501 143780000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143778531 143782613 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143778532 143782613 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143778533 143782602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143778533 143782602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143778533 143782613 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143781528 143785587 Amplification Prostate cancer aCGH 22341455 chr8 143802501 143807000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143805622 143815352 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143805623 143815345 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143805623 143815352 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143805623 143815352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143805690 143815347 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143808620 143818349 Amplification Prostate cancer aCGH 22341455 chr8 143813001 143821500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143815226 143815275 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 143819363 143820831 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143819364 143820831 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143819364 143820831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143819364 143820831 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143819364 143820831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1 43820269 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-580K arrays 21546498 chr8 1 43820269 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-603K arrays 21546498 chr8 1 43820269 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-611K arrays 21546498 chr8 143821501 143827500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143822361 143823828 Amplification Prostate cancer aCGH 22341455 chr8 143827289 143827433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 143827501 143886500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143828581 143830933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143828581 143830933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143828629 143830954 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143828631 143830954 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143828631 143830954 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143831627 143833951 Amplification Prostate cancer aCGH 22341455 chr8 143836801 143841000 Deletion Glioma mate-paired sequence 20126413 chr8 143842757 143856642 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143842760 143856641 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143842760 143856642 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143842762 143856641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143842762 143856641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143845755 143859639 Amplification Prostate cancer aCGH 22341455 chr8 143848902 143850157 Gain Normal 244K array 17666407 chr8 143849617 143855746 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143849617 143855746 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143853870 143853913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 14385426 143564928 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr8 143863299 143865010 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143863300 143865010 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143863300 143865010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143863302 143864945 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143863302 143865010 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143866297 143868007 Amplification Prostate cancer aCGH 22341455 chr8 143870138 143870438 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr8 143881679 143882545 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143886501 143897000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143895208 144725733 LOH Normal High-resolution SNP genotyping 21211785 chr8 143897001 143900500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143899694 143999285 Gain Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr8 143900501 143952500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143913218 143925264 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 143913219 143925264 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143913219 143925264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143913219 143925264 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143913219 143925264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143916216 143928261 Amplification Prostate cancer aCGH 22341455 chr8 143950774 143958231 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143950774 143958238 Copy number Breast cancer - 16824018 chr8 143950780 143958238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143950780 143958238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143952218 143958238 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143952501 143958000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143953772 143961235 Amplification Prostate cancer aCGH 22341455 chr8 143958001 143990000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143988977 143996261 Amplification T-cell lymphomas Array-CGH 22341440 chr8 143988983 143996261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 143988983 143996261 Gain and loss Pancreatic cancer SNP array 17952125 chr8 143988983 143996261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 143990001 143996500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 143991974 143999258 Amplification Prostate cancer aCGH 22341455 chr8 144000001 144003000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144003001 144170000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144057397 144057481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144058201 144235300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 14409268 14421442 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 144099901 144103826 Amplification Prostate cancer aCGH 22341455 chr8 144128320 144128520 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 144129495 144129644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 144160762 144160842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144170001 144181500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144171300 144175199 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144171300 144175199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144171300 144175199 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144171300 144175199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144180457 146072839 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr8 144181010 144182010 Loss Osteosarcoma References 21215367 chr8 144181501 144194500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144191422 144192676 Gain Normal 244K array 17666407 chr8 144192054 144207095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144192054 144207095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144194501 144198000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144194630 144194929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 144195794 144202044 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144198001 144355500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144203816 144238531 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144204515 144204547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144219968 144235784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144221266 144232894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144228696 144228795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144235301 144361800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144237873 144237968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144239330 144242052 Amplification Prostate cancer aCGH 22341455 chr8 144241010 144241244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144295067 144299043 Amplification Prostate cancer aCGH 22341455 chr8 144310705 144313428 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144310709 144313076 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144310709 144313120 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 144310709 144313120 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144310709 144313120 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144310709 144313120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144329108 144344874 Amplification Prostate cancer aCGH 22341455 chr8 144332547 144332616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 144333377 144333409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144347821 144380221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144354955 144383961 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144355501 144375000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144357021 144357121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144361801 146274826 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144366026 144366126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144366442 144370418 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144366443 144370418 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 144366443 144370418 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144366443 144370418 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144366443 144370418 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144366443 144370418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144366839 144366895 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 144368508 144368608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144370469 144407880 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 144375001 144422000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144376126 144376190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144381189 144381964 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 144391525 144417049 Amplification Prostate cancer aCGH 22341455 chr8 144400484 144413384 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144400484 144416250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144400484 144416250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144400484 144430474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 144400484 144430474 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144405211 146039965 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 144420982 144430474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144420982 144430474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144422001 144432000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144432001 144521000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144444971 144451539 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 144444971 144451539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144444971 144451539 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144444971 144451539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144447276 144448878 Gain Normal 244K array 17666407 chr8 144451024 144466389 Amplification Prostate cancer aCGH 22341455 chr8 144462905 144488425 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144462908 144488425 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144462910 144488425 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 144462910 144488425 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144462910 144488425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144469969 144470127 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 144503717 144503818 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144503717 144503823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144511514 144512575 Amplification Prostate cancer aCGH 22341455 chr8 144519824 144623619 Amplification Prostate cancer aCGH 22341455 chr8 144521001 144552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144521711 144521890 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144522400 144537532 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144522400 144537532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144522432 144537532 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144522533 144535964 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144552501 144575000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144564750 146021106 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 144575001 144581000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144581001 144585500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144582658 144583719 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144582658 144583719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144582658 144583719 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144582658 144583719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144584722 144584825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 144585501 144595500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144590967 144694763 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144590968 144694763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144590968 144694763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144590975 144694746 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144590975 144694746 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144595501 144617500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144610533 144610633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144617501 144692500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144635556 144645231 Amplification Prostate cancer aCGH 22341455 chr8 144652320 144652420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144656954 144660512 Amplification Prostate cancer aCGH 22341455 chr8 144661897 144679844 Amplification Prostate cancer aCGH 22341455 chr8 144662017 144662077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144674701 144674765 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr8 144680073 144682484 Amplification Prostate cancer aCGH 22341455 chr8 144682384 144682484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144686082 144691783 Amplification Prostate cancer aCGH 22341455 chr8 144692501 144712000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144694787 144699731 Amplification Prostate cancer aCGH 22341455 chr8 144695423 144695711 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144695423 144695711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144695423 144695713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144703501 144709000 Deletion Glioma mate-paired sequence 20126413 chr8 144705208 144707382 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 144706699 144716374 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144710202 144710602 Gain Ewing's sarcoma Array CGH 19144156 chr8 144711631 144716375 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144711635 144716372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144711635 144716372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 14471194 14471277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144712001 144771500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144712103 144716372 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144718372 144735899 Amplification Prostate cancer aCGH 22341455 chr8 144719505 144726071 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144719505 144726071 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144719505 144726071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144719508 144723063 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144728097 144731636 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144728099 144731636 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144728101 144731651 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144728101 144731651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144728101 144731656 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144733039 144750726 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144733040 144750726 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144733041 144750726 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144733041 144750726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144733041 144750726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144737283 144737383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144751218 144753218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144751363 144753627 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144751364 144753627 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 144751364 144753627 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144751364 144753627 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144753570 146201712 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 chr8 144757226 144762864 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144757531 144762887 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144757532 144762887 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144757532 144762907 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144757532 144762907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144759832 144804595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144763421 144776299 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 144763913 144788813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144764348 144787620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144765143 144788068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144765931 144770817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144765931 144770817 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144765931 144770817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144765932 144770852 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 144765932 144770852 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 144765933 144770036 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144765938 144770015 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 144766621 144777554 Amplification Prostate cancer aCGH 22341455 chr8 144770465 144785533 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 144770465 144785533 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 144771501 144843500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144771628 144785835 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 144771634 144785886 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 144776288 144821854 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 144776300 144778949 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 144776300 144778951 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 144784148 144995051 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.12 ST arrays. 21853135 chr8 144785565 144785822 Gain Normal 244K array 17666407 chr8 144794746 144795077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 144798256 144831443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144798506 144804632 Amplification Prostate cancer aCGH 22341455 chr8 144802992 144809553 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 144803097 144804902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144803097 144804902 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144803097 144804902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144806102 144815913 Amplification Prostate cancer aCGH 22341455 chr8 144817801 144821800 Deletion Glioma mate-paired sequence 20126413 chr8 144824515 144849538 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144827421 144827453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144836429 145546016 LOH Normal High-resolution SNP genotyping 21211785 chr8 144838610 144849542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144838610 144849542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144838650 144849515 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144843501 144853500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144850312 144852572 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144850312 144852572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144851273 144852570 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144853501 144865500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144854765 144854865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144860885 144861670 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144865501 144867500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144867501 144884000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144867638 144900325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144870417 144876619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144870417 144876619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144870494 144876621 Gain or loss Breast cancer - 20668451 chr8 144870494 144876621 Gain or loss Cancer - 20668451 chr8 144870494 144876621 Gain or loss Lung cancer - 20668451 chr8 144870494 144876621 Gain or loss Ovarian cancer - 20668451 chr8 144870494 144876621 Gain or loss Pancreas cancer - 20668451 chr8 144870494 144876621 Gain or loss Prostate cancer - 20668451 chr8 144870498 144876616 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144870498 144876619 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144873089 144897548 Amplification Prostate cancer aCGH 22341455 chr8 144878091 144887902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144878091 144887902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144878092 144882798 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144878092 144882798 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144884001 144897500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144896449 144897261 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144897501 144942000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144898546 144911536 Amplification Prostate cancer aCGH 22341455 chr8 144899080 144905452 Amplification Human papillomavirus FISH 17975027 chr8 144899080 144905452 Gain Barrett's esophagus FISH 18559552 chr8 144899080 144905452 Gain Cervical cancer array CGH and SNP array 17311676 chr8 144899080 144905452 Gain Melanoma FISH 16977458 chr8 144912674 144914670 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144915166 144915266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 144915754 144923145 Amplification Prostate cancer aCGH 22341455 chr8 144925636 144926923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144925636 144926923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144935821 144947433 Amplification Prostate cancer aCGH 22341455 chr8 144935988 144980451 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 144942001 144950500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144945078 144969537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144945078 144969537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144945084 144969532 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144945084 144969537 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144950501 144956500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144956501 144980000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144967115 144967200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144970535 144983525 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 144970537 144978578 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144970537 144983471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144970537 144983471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144970537 144983525 Amplification T-cell lymphomas Array-CGH 22341440 chr8 144970693 144983194 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 144980001 145014500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 144987759 144996188 Gain and loss Pancreatic cancer SNP array 17952125 chr8 144987905 144996188 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 144987905 144996188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 144989320 145050912 Amplification Prostate cancer aCGH 22341455 chr8 144995051 145163601 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.13 ST arrays. 21853135 chr8 144996419 144996458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145000000 146000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr8 145000411 145012764 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145002910 145022079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145003336 145016471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145004283 145016314 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145005691 145005775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145007411 145014022 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145010148 145013042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145011821 145013889 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145012039 145017430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145014501 145038000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145028388 145358471 Copy number Type 2 diabetes ILLumia HumanHap318 BeadChip 21526130 chr8 145036742 145547551 LOH Normal High-resolution SNP genotyping 21211785 chr8 145038001 145056500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145041149 146274826 LOH Normal High-resolution SNP genotyping 21211785 chr8 145050595 145299088 Copy number Normal - 20703242 chr8 145051319 145060634 Amplification Prostate cancer aCGH 22341455 chr8 145056501 145066000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145061309 145121531 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145061309 145121531 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145061309 145121531 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145061309 145121531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145061948 145093349 Duplication, deletion Sertoli-cell only syndrome Array-CGH 20877625 chr8 145064225 145067582 Amplification Prostate cancer aCGH 22341455 chr8 145066001 145068500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145068501 145073000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145073001 145080500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145077436 145077549 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 145080501 145105000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145086581 145102014 Amplification Prostate cancer aCGH 22341455 chr8 145087134 145087234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145090779 145093935 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145091347 145091435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145104972 145111043 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 145106166 145115583 Amplification Prostate cancer aCGH 22341455 chr8 145107571 145140678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145108546 145108646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145111001 145141000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145123307 145132623 Gain or loss Breast cancer - 20668451 chr8 145123307 145132623 Gain or loss Cancer - 20668451 chr8 145123307 145132623 Gain or loss Lung cancer - 20668451 chr8 145123307 145132623 Gain or loss Ovarian cancer - 20668451 chr8 145123307 145132623 Gain or loss Pancreas cancer - 20668451 chr8 145123307 145132623 Gain or loss Prostate cancer - 20668451 chr8 145123309 145132583 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145123309 145132623 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145123309 145132623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145133521 145135550 Amplification Prostate cancer aCGH 22341455 chr8 145133522 145135551 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 145136214 145139571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145136214 145139571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145136256 145139572 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145137387 145139855 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145137523 145141118 Amplification Prostate cancer aCGH 22341455 chr8 145138042 145138094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145141001 145166000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145149959 145152427 Amplification Prostate cancer aCGH 22341455 chr8 145152437 145152525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145153535 145159139 Amplification Prostate cancer aCGH 22341455 chr8 145157538 146117620 LOH Normal High-resolution SNP genotyping 21211785 chr8 145158595 145174002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145158595 145174002 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145158595 145174002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145158595 145174003 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145158685 145170546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145159304 145162514 Amplification Prostate cancer aCGH 22341455 chr8 145160609 145169736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145162804 145166195 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145163329 145170977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145163601 145986967 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.14 ST arrays. 21853135 chr8 145164454 145176939 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145166001 145191500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145177412 145178083 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145177412 145178083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145178156 145187594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145178156 145187594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145178165 145186923 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145178215 145190825 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145191501 145209000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145191556 145214280 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145192671 145195619 Amplification Prostate cancer aCGH 22341455 chr8 1 45200000 Amplification Breast cancer Agilent 44K human genome CGH microarray chip 20940404 chr8 1 45200000 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr8 1 45200000 Copy number Breast cancer Illumina 109K SNP array 20837533 chr8 1 45200000 Copy number Squamous cell cancer Array comparative genomic hybridization 21044232 chr8 1 45200000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr8 1 45200000 Deletion Colorectal cancer Array CGH 20709793 chr8 1 45200000 Deletion Colorectal cancer CGH 20709793 chr8 1 45200000 Deletion Colorectal cancer Digital SNP analysis (8p and 18q) 20709793 chr8 1 45200000 Deletion Colorectal cancer MS markers (18q, 8p, and 4p) 20709793 chr8 1 45200000 Deletion Colorectal cancer MS markers (5q, 8p, 15q, 17p, 18q) 20709793 chr8 1 45200000 Deletion Colorectal cancer MS markers(to 3p, 4p, 5q, 8p, 9p, 13q, 17p, and 18q) 20709793 chr8 1 45200000 Deletion Colorectal cancer SNP array 20709793 chr8 1 45200000 Deletion Non-small cell lung cancer Array comparative genomic hybridization 21044232 chr8 1 45200000 Deletion Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 chr8 1 45200000 Deletion Normal - 20616218 chr8 1 45200000 Deletion T-cell prolymphocytic leukemia References 19278963 chr8 1 45200000 Duplication Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 chr8 1 45200000 Gain Ewing's sarcoma CGH(Reference) 21437220 chr8 1 45200000 Gain Glioblastoma multiforme aCGH 21080181 chr8 1 45200000 Gain or loss Endometrial cancer CGH 22040021 chr8 1 45200000 Gain Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr8 1 45200000 Loss Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr8 1 45200000 Loss Breast cancer aCGH 21264507 chr8 1 45200000 Loss Carcinoma ex pleomorphic adenoma array-CGH 18828159 chr8 1 45200000 Loss Esophageal squamous carcinoma CGH 21637470 chr8 1 45200000 Loss Glioblastoma multiforme aCGH 21080181 chr8 1 45200000 Loss Glioblastoma multiforme CGH 19960244 chr8 1 45200000 Loss Glioblastoma multiforme conventional CGH 21080181 chr8 1 45200000 Loss Hepatocellular carcinoma CGH 22174799 chr8 1 45200000 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr8 1 45200000 Loss Prostate cancer - 21088497 chr8 145202918 145316842 Amplification Prostate cancer aCGH 22341455 chr8 145203172 145357632 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 145205509 145207539 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145205510 145207536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145205510 145207536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145205510 145207539 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 145205517 145207534 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145205517 145207538 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145209001 145213500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145209228 145213105 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145209512 145213106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145209512 145213106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145209527 145213102 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145209555 145213055 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 145213501 145222000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145221947 145224416 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145221948 145224415 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145221948 145224415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145221968 145224415 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145221987 145224416 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145222001 145243500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145222009 145224324 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 145225523 145231128 Gain or loss Breast cancer - 20668451 chr8 145225523 145231128 Gain or loss Cancer - 20668451 chr8 145225523 145231128 Gain or loss Lung cancer - 20668451 chr8 145225523 145231128 Gain or loss Ovarian cancer - 20668451 chr8 145225523 145231128 Gain or loss Pancreas cancer - 20668451 chr8 145225523 145231128 Gain or loss Prostate cancer - 20668451 chr8 145225524 145231128 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145225524 145231128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145225527 145231126 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145225529 145231081 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145229056 145255155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145231292 145234503 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 145231293 145234501 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145231293 145234501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145231324 145234469 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 145231393 145234503 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145232575 145234000 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145234616 145245206 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145234617 145245206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145234617 145245206 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145234617 145245206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145235505 146274826 LOH Normal High-resolution SNP genotyping 21211785 chr8 145243501 145293000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 14525015 14565465 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 145264660 145267562 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145264660 145267607 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145264660 145267607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145274907 145388707 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145274907 145388707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145287917 145456689 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145293001 145295500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145295501 145305500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145298570 145384455 Gain aortic dissecting aneurysms Array-CGH 22263138 chr8 145298570 145384455 Gain Stenocardia MACArray Karyo 42K BAC-chips 21860640 chr8 145298570 145384455 Gain Vasospasm MACArray Karyo 42K BAC-chips 21860640 chr8 145305501 145308000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145308001 145372500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145372501 145475500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145388996 145391965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145393505 145395033 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145393505 145395033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 14539606 14554433 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 145408687 145411636 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145408688 145411635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145408688 145411635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145408736 145411590 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145443641 145456704 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145443641 145456704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145456863 145485928 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145456864 145485928 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 145456864 145485928 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145456869 145485890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145456869 145485890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145456928 145485928 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145461410 145462939 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145461411 145462939 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145461411 145462939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145473922 145474003 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 145475501 145503000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145486055 145515119 Amplification Prostate cancer aCGH 22341455 chr8 145486078 145509192 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145486078 145509192 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145486088 145509187 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145486088 145509188 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145490602 145492130 Amplification Prostate cancer aCGH 22341455 chr8 145494501 145668486 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 145494501 145668486 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 145503001 145528000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145510763 145521350 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145510763 145521350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145510763 145521350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145510763 145521360 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145510769 145521317 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 14551356 14559603 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 145515269 145538384 Amplification Prostate cancer aCGH 22341455 chr8 145525262 145530751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145525349 145525699 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145526935 145530751 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145526935 145530751 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145528001 145547000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145538246 145550566 Amplification Prostate cancer aCGH 22341455 chr8 145542809 146117620 LOH Normal High-resolution SNP genotyping 21211785 chr8 145546016 146274826 LOH Normal High-resolution SNP genotyping 21211785 chr8 145547001 145552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145547782 145549313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145547782 145549313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145547887 145548816 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145549104 145700535 Loss Autism - 20841430 chr8 145549898 145552940 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145549898 145553844 Copy number Lung cancer - 20668451 chr8 145549898 145553844 Gain or loss Breast cancer - 20668451 chr8 145549898 145553844 Gain or loss Cancer - 20668451 chr8 145549898 145553844 Gain or loss Lung cancer - 20668451 chr8 145549898 145553844 Gain or loss Ovarian cancer - 20668451 chr8 145549898 145553844 Gain or loss Pancreas cancer - 20668451 chr8 145549898 145553844 Gain or loss Prostate cancer - 20668451 chr8 145549900 145552940 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145549900 145552940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145549900 145552940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145549900 145552980 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145552501 145619000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145553033 145555754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145553033 145555754 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145553033 145555754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145554453 145559942 Amplification Prostate cancer aCGH 22341455 chr8 145561050 145589259 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145568538 145589261 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145568539 145589259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145568539 145589259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145568539 145589265 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145579090 145582131 Amplification Prostate cancer aCGH 22341455 chr8 145583911 145583979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145589253 145605541 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145589254 145605541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145589254 145605541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145589258 145605517 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145589258 145605517 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145589295 145605344 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 145590172 145590253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145596284 145596367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145597730 145618456 Amplification Prostate cancer aCGH 22341455 chr8 1 45600000 Amplification Colorectal cancer GISTIC software 19359472 chr8 1 45600000 Amplification Embryonal rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 chr8 1 45600000 Amplification Gastric cancer Array CGH 17167181 chr8 1 45600000 Copy number Prostate cancer Human Genome U133 Plus 2.0 arrays, Affymetrix GCOS software 16705090 chr8 1 45600000 Deletion Prostate cancer Affymetrix 50K SNP mapping array 17245344 chr8 1 45600000 Distal deletion 8p-syndrome references 17576883 chr8 1 45600000 Gain Gastrointestinal stromal cancer array CGH 16982739 chr8 1 45600000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr8 1 45600000 Loss Human rectal carcinomas oligonucleotide arrays 16397240 chr8 1 45600000 Loss Lung adenocarcinoma Agilent 44k arrays 19525976 chr8 1 45600000 Loss Lung cancer Agilent 44k arrays 19525976 chr8 1 45600000 Loss Medulloblastoma CGH 16968546 chr8 145603162 146274826 LOH Normal High-resolution SNP genotyping 21211785 chr8 145608458 146205759 LOH Normal High-resolution SNP genotyping 21211785 chr8 145608458 146274826 LOH Normal High-resolution SNP genotyping 21211785 chr8 145608606 145613081 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145608607 145613081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145608607 145613081 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145608607 145613081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145618445 145634732 Amplification Prostate cancer aCGH 22341455 chr8 145619001 145676000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145619807 145624735 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145619808 145624735 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145619808 145624735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145619808 145624735 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145619808 145624735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145624970 145640620 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145624984 145640589 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145624999 145640466 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145624999 145640635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145624999 145640635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145632834 145703357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145632834 145703357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145637797 145642272 Amplification Prostate cancer aCGH 22341455 chr8 145638337 146274826 LOH Normal High-resolution SNP genotyping 21211785 chr8 145639312 146274826 LOH Normal High-resolution SNP genotyping 21211785 chr8 145646123 145653832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145646123 145661839 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145648999 145653926 Amplification Prostate cancer aCGH 22341455 chr8 145654162 145669811 Amplification Prostate cancer aCGH 22341455 chr8 145660018 145661657 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145660018 145661679 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145660018 145661679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145660034 145661276 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 145662545 145670307 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145662546 145670306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145662546 145670306 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145662546 145670306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145662546 145670307 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145669924 145672526 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145669925 145672526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145669925 145672526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145670317 145672526 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145670429 145672029 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145675314 145691030 Amplification Prostate cancer aCGH 22341455 chr8 145676001 145685000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145685001 145719500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145686229 145698311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145686229 145698311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145691737 145699498 Amplification Prostate cancer aCGH 22341455 chr8 145691809 145695171 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145692916 145698312 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145692917 145698311 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145692917 145698312 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145699114 145701717 Amplification Prostate cancer aCGH 22341455 chr8 145699164 145703365 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145700231 145703357 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145702062 145702122 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr8 145705271 145707387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145705271 145707387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145705359 145707397 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145705360 145707397 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145705360 145707397 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145707478 145714008 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145707478 145714008 Gain or loss Breast cancer - 20668451 chr8 145707478 145714008 Gain or loss Cancer - 20668451 chr8 145707478 145714008 Gain or loss Lung cancer - 20668451 chr8 145707478 145714008 Gain or loss Ovarian cancer - 20668451 chr8 145707478 145714008 Gain or loss Pancreas cancer - 20668451 chr8 145707478 145714008 Gain or loss Prostate cancer - 20668451 chr8 145707480 145713976 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145707480 145714008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145707480 145714008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145707622 145713976 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145714198 145721365 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145714199 145721365 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145714199 145721365 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145714199 145721365 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145714199 145721365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145718212 145723224 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145718569 145723224 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145718581 145723216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145718667 145721112 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145719501 145727000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145722108 145727503 Amplification Prostate cancer aCGH 22341455 chr8 145722412 145725266 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145722412 145725266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145722412 145725266 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145722412 145725266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145723675 145723760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145725371 145804866 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145725371 145804869 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145725371 145804869 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145725371 145804869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145725508 145801822 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 145727001 145734500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145727403 145728228 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 145729464 145732554 Amplification Prostate cancer aCGH 22341455 chr8 145734501 145739500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145734551 145736588 Amplification Prostate cancer aCGH 22341455 chr8 145736666 145743209 Amplification Prostate cancer aCGH 22341455 chr8 145736666 145743210 Gain Esophageal adenocarcinoma MLPA 18820669 chr8 145736666 145743210 Gain Osteosarcoma Human Genome CGH 44k microarrays 19242607 chr8 145739501 145751500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145741472 145745418 Amplification Breast cancer Array CGH 17440070 chr8 145741472 145745418 Amplification Ovarian cancer Array CGH 17440070 chr8 145741472 145745418 Deletion Cancer Array CGH 17440070 chr8 145743390 145750556 Amplification Prostate cancer aCGH 22341455 chr8 145747760 145752415 Amplification Prostate cancer aCGH 22341455 chr8 145751602 145754457 Amplification Prostate cancer aCGH 22341455 chr8 145753359 145753459 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145754562 145838890 Amplification Prostate cancer aCGH 22341455 chr8 145775501 145829000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145776297 145822817 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145829001 145950000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145866720 145892921 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 14588243 14588343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145903923 145904474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145911041 145911078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145917102 145951775 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145917104 145918720 Amplification T-cell lymphomas Array-CGH 22341440 chr8 145917104 145951775 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145917104 145951775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145917715 145951659 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145946293 145980969 Amplification Prostate cancer aCGH 22341455 chr8 145950001 146054000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 145963824 145964732 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 145969307 145983529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145969307 145983529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145969312 145983514 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145981487 145981775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145981497 145981777 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145981497 145981777 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145985957 145988609 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 145985959 145988572 Gain and loss Pancreatic cancer SNP array 17952125 chr8 145985959 145988609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145985959 145988609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145986002 145988284 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 145986967 146268960 Copy number Oral squamous cell carcinoma Affymetrix SNP 6.0 and Affymetrix GeneChip Human Gene 1.15 ST arrays. 21853135 chr8 145993853 145993953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 145995065 146005333 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 145995065 146005333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 145995092 146004584 Gain and loss Pancreatic cancer SNP array 17952125 chr8 146003056 146023229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 146013736 146013870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 146015153 146017804 Amplification Prostate cancer aCGH 22341455 chr8 146023706 146039410 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 146023707 146042367 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 146023707 146042367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 146023748 146043698 Gain and loss Pancreatic cancer SNP array 17952125 chr8 146023807 146039409 Amplification T-cell lymphomas Array-CGH 22341440 chr8 146025232 146039406 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 146026001 146030300 Deletion Glioma mate-paired sequence 20126413 chr8 146034169 146049203 Amplification T-cell lymphomas Array-CGH 22341440 chr8 146034169 146049203 Gain and loss Pancreatic cancer SNP array 17952125 chr8 146046315 146078662 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 146046356 146049256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 146046356 146049256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 146052902 146068605 Amplification Prostate cancer aCGH 22341455 chr8 146054001 146274826 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 146063542 146097650 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 146075550 146078931 Amplification Prostate cancer aCGH 22341455 chr8 146076625 146097620 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 146076625 146097620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 146077337 146097632 Amplification T-cell lymphomas Array-CGH 22341440 chr8 146079121 146079216 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 146102335 146126845 Amplification Prostate cancer aCGH 22341455 chr8 146126547 146147078 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 146126550 146147078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 146126550 146147078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 146163673 146163982 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 146165959 146268959 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 146169778 146199089 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 146173476 146174741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 146173476 146174741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 146191064 146191701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 146191075 146192349 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 146199026 146201819 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 146201993 146246583 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 14621181 15213360 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 14623080 14743201 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 14624835 15028743 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 146248627 146252220 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 146248630 146252219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 146248630 146252219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 146248630 146252220 Amplification T-cell lymphomas Array-CGH 22341440 chr8 146253307 146268959 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 146263494 146268960 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 146277824 146274826 Amplification Ovarian cancer Affymetrix SNP6.0 array 21240255 chr8 1466593 1466693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 14678491 14678591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 14697395 14697495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 14710946 14711018 Deletion Prostate cancer aCGH 22341455 chr8 14717926 14717958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 14721071 15809077 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 14748965 15243019 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 14755318 14755390 Gain and loss Pancreatic cancer SNP array 17952125 chr8 14755318 14755390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1475635 1475735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 14764929 15575672 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 1478256 1512828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 14794105 14828487 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 14802413 15514303 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 14899131 14899268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1497001 1499000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 1499001 1774000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 15045638 15045957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 15081698 15081798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15097762 15098076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 15098795 18360001 Deletion Schizophrenia PennCNV software 19197363 chr8 15147804 15147883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 151699 186841 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 15170086 15170186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15213360 16002932 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 15243019 18846707 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 1524533 1628504 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 15263713 15263796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 15264001 15265001 Loss Osteosarcoma References 21215367 chr8 1526493 1526588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15304728 15809483 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 153198 172211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 15342437 15342537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15359024 16442082 LOH Normal High-resolution SNP genotyping 21211785 chr8 153669594 153670676 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 15371517 15392348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 153872 17741656 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr8 15397729 15621994 Deletion Prostate cancer aCGH 22341455 chr8 15399106 15399341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15399336 15399520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15417131 16580211 LOH Normal High-resolution SNP genotyping 21211785 chr8 15423764 15423846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 15424032 16241550 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 15431662 15431964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 15440864 15467708 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 1544201 15666366 Copy number Autism exome sequencing 22495311 chr8 15442101 15666364 Gain and loss Pancreatic cancer SNP array 17952125 chr8 15442101 15666366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 15442101 15666366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 15445295 15447431 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 15446216 15457509 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 15446571 15457837 Deletion Prostate cancer array-based comparativegenomic hybridization 21147910 chr8 15447307 15475846 Deletion Nasopharyngeal cancer PennCNV 20548289 chr8 15447419 15457806 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 15447431 15455977 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 15447431 15455979 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 15447432 15457819 Copy number Breast cancer Affymetrix SNP 6.4 22522925 chr8 15447669 15471819 Copy number Type 2 diabetes ILLumia HumanHap309 BeadChip 21526130 chr8 15455109 15488724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 15455298 15455394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 15455979 15457818 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 1549163 1571047 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 15492774 15492843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15503001 15503301 Loss Chordoma References 21215367 chr8 15518658 15519658 Loss Chordoma References 21215367 chr8 15525786 15526086 Gain Chordoma References 21215367 chr8 15548662 15548731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15583754 15721658 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 15590901 15591440 Gain and loss Pancreatic cancer SNP array 17952125 chr8 15649993 15650993 Loss Cancer Human 24 color M-FISH 21215367 chr8 15649993 15650993 Loss Chordoma References 21215367 chr8 15667725 15713161 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 15693547 16594672 LOH Normal High-resolution SNP genotyping 21211785 chr8 15699553 15699653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15704777 15705777 Gain Renal cell carcinoma References 21215367 chr8 15705800 15705890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15738520 15742470 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 15742470 15780728 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 15769983 15770083 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 157737401 146274826 Deletion Glioma mate-paired sequence 20126413 chr8 1577598 1579019 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1579785 1579852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15808189 15987084 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 15833147 16652504 LOH Normal High-resolution SNP genotyping 21211785 chr8 15844990 15845412 Gain and loss Pancreatic cancer SNP array 17952125 chr8 15856569 15856669 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15865490 15865590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15869660 16467978 LOH Normal High-resolution SNP genotyping 21211785 chr8 15901079 16586207 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 15922671 15931181 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 15932094 15932244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 15937868 15988678 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 15965386 16050299 Deletion Prostate cancer aCGH 22341455 chr8 159711 2178807 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 15975576 16626987 LOH Normal High-resolution SNP genotyping 21211785 chr8 15990642 16068087 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 15990642 16626987 LOH Normal High-resolution SNP genotyping 21211785 chr8 15992606 16066256 Loss Autism Exome sequencing and CGH 22495309 chr8 15993374 16070994 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 15994348 16065839 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 15995420 16065839 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 16002932 16538713 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 16009758 16094671 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 16009758 16094671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 16009761 16094595 Gain and loss Pancreatic cancer SNP array 17952125 chr8 16041634 16041692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16057013 16288765 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 16057013 16288765 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 16060673 16288765 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 16060673 16288765 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 16065083 16288765 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 16065083 16288765 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 16068087 16288765 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 16068087 16288765 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 16070410 16288765 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 16070410 16288765 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 1 607624 Deletion Normal Arbitrated Peel-off 21527027 chr8 1 607624 Deletion Normal GeneGISTIC 21527027 chr8 1 607624 Deletion Normal Standard peel-off 21527027 chr8 16100000 117700000 Amplification Thyroid cancer FISH 19087340 chr8 16100000 146274826 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 16100000 146274826 Gain Thyroid cancer FISH 19087340 chr8 16100000 55600000 Gain Multiple myeloma CGH, FISH 16461302 chr8 16100000 55600000 Loss Developmental delay Human whole genome oligonucleotide microarray kits 246K 21373258 chr8 16102645 16102822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 16102807 16102949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 16102808 16103062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 16110852 16157007 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 16160854 16160954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1617453 1617509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16190577 16190677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1 6200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 1 6200000 Gain Prostate cancer Array CGH 16573809 chr8 1 6200000 Loss Basal cell lymphoma Array CGH 16317097 chr8 1 6200000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 chr8 16231527 16262038 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 16231929 17010633 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 16243789 16267489 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 16245464 16252137 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 16245464 16252137 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 16245681 16251901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16246032 16250206 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 16256455 16527312 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 16256536 16692519 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr8 1625876 1625976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 16269742 16269812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1627398 1926665 Gain and loss Pancreatic cancer SNP array 17952125 chr8 16279341 16280341 Loss Chordoma References 21215367 chr8 16291357 16291451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 16306423 16319055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16306606 16318768 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr8 16318190 16338407 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 16323057 17010633 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 16350941 16351041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 16365615 16370962 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 16367417 16371016 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 16370342 16586207 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 16393710 16393810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1644501 1648900 Deletion Glioma mate-paired sequence 20126413 chr8 16488345 16488377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 16538713 17638474 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 16557446 16614038 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 16587946 16587996 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16589779 16590103 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16591120 16591219 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 16591120 16591219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16591135 16591234 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 16601752 16639403 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 1 66100000 Copy number Cancer ICA method 16751803 chr8 1 66142610 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-612K arrays 21546498 chr8 16626987 16677131 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 16640572 16656075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 16642931 16684703 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 16660545 16660645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 16730290 16730341 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16739444 16740444 Gain Renal cell carcinoma References 21215367 chr8 16740459 16740759 Loss Renal cell carcinoma References 21215367 chr8 16752983 18463721 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 16758466 16766174 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 16797000 16842237 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 16829036 16829336 Loss Renal cell carcinoma References 21215367 chr8 16850333 16859673 Deletion Prostate cancer aCGH 22341455 chr8 16850961 16870569 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 16850961 16870569 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 16852569 16872628 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 16854548 16889221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 16866207 16866669 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 16866251 16866620 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 16875456 16876456 Gain Osteosarcoma References 21215367 chr8 16882348 16883348 Gain Osteosarcoma References 21215367 chr8 16884746 16980147 Deletion Prostate cancer aCGH 22341455 chr8 16894704 16904045 Gain or loss Breast cancer - 20668451 chr8 16894704 16904045 Gain or loss Cancer - 20668451 chr8 16894704 16904045 Gain or loss Lung cancer - 20668451 chr8 16894704 16904045 Gain or loss Ovarian cancer - 20668451 chr8 16894704 16904045 Gain or loss Pancreas cancer - 20668451 chr8 16894704 16904045 Gain or loss Prostate cancer - 20668451 chr8 16894705 16904045 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 16894705 16904045 Gain and loss Pancreatic cancer SNP array 17952125 chr8 16894705 16904045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 16909831 18283695 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr8 16929118 17024518 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 16929119 17024512 Gain and loss Pancreatic cancer SNP array 17952125 chr8 16929119 17024516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 16929119 17024516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 16937366 16937770 Gain and loss Pancreatic cancer SNP array 17952125 chr8 16938721 16939262 Gain and loss Pancreatic cancer SNP array 17952125 chr8 16939390 16939896 Gain and loss Pancreatic cancer SNP array 17952125 chr8 16950730 16950830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1699277 1722134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 1699277 1722134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1699348 1719857 Gain and loss Pancreatic cancer SNP array 17952125 chr8 170000 37590000 Loss Breast cancer aCGH 21509527 chr8 17001290 17749530 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 17006578 17006899 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 17013835 17080240 Deletion Prostate cancer aCGH 22341455 chr8 17016047 17017047 Loss Osteosarcoma References 21215367 chr8 17027137 17027237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17027289 17027389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17029356 17029416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 17055880 17055980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17058402 17124612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17058402 17124612 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17058402 17124612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17086739 17104386 Deletion Prostate cancer aCGH 22341455 chr8 17104400 17155532 Deletion Prostate cancer aCGH 22341455 chr8 17131111 17148758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17131111 17148758 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17131111 17148758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17148851 17197438 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17148851 17197438 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17148851 17197438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17154305 17271039 Deletion Prostate cancer aCGH 22341455 chr8 17199435 18122048 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 17199910 17315207 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 17199923 17315207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17199923 17315207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1720281 1722142 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17203535 17250937 Gain and loss Pancreatic cancer SNP array 17952125 chr8 172199 187339 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 172200 187342 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 172200 187342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17229368 17457649 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr8 172382 187332 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17254278 17255278 Gain Osteosarcoma References 21215367 chr8 17259473 17259773 Gain Renal cell carcinoma References 21215367 chr8 17300000 112200000 Loss Glioblastoma multiforme conventional CGH 21080181 chr8 17300000 117700000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr8 17300000 119200000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr8 17306535 17334018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 17309973 17310296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1731801 1736200 Deletion Glioma mate-paired sequence 20126413 chr8 17335551 17685810 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 17335840 17336021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17336011 17336197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1733766 1734320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1733766 1734357 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 17354596 17428076 Deletion Prostate cancer aCGH 22341455 chr8 17372311 17373386 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17387327 17387427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17398975 17472357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17398975 17472357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17433941 17500641 Deletion Prostate cancer aCGH 22341455 chr8 17440672 17466945 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17451157 17462214 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 17478443 17545655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17478443 17545655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17478986 17544896 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17483930 17484930 Loss Osteosarcoma References 21215367 chr8 17496360 17497360 Loss Osteosarcoma References 21215367 chr8 17501302 17658425 Deletion Prostate cancer aCGH 22341455 chr8 17501303 17658426 Copy number Breast cancer PCR 17301065 chr8 1752804 1752880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17532573 17535058 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr8 17536211 17537211 Loss Osteosarcoma References 21215367 chr8 17545582 17702666 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chr8 17545582 17702666 Deletion Breast cancer Reference 17953491 chr8 17545582 17702666 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 17545584 17702666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17545584 17702666 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17545584 17702666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1757869 1789675 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 1759549 1894206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 1759549 1894206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1759550 1894213 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1759555 1894214 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 17600000 17920000 Gain Breast cancer aCGH 21509527 chr8 17601844 17602844 Gain Osteosarcoma References 21215367 chr8 17624976 17626264 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 17648443 17679837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 17649519 17813473 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 17649907 17650003 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17649907 17650019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17658216 17658216 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 17693316 17693406 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17702530 17702630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17721107 17721392 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 17721899 17753046 Deletion Prostate cancer aCGH 22341455 chr8 1774001 1776500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 1776501 2182500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 17766169 17812154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17766169 17812154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17766182 17797327 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17780365 17887456 Deletion Prostate cancer aCGH 22341455 chr8 17782521 17782529 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 17795520 17796446 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 17802245 17802345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17814795 17815640 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17824646 17935562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17824646 17935562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17824779 17929764 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17840254 17895537 Amplification or deletion Cancer Array CGH 17440070 chr8 17896482 17897516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 17903778 17904702 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 17913924 17942506 Deletion Prostate cancer aCGH 22341455 chr8 17920464 19584205 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 17934886 17956688 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 1793737 1801190 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17958204 17986787 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 17958214 17986787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 17958214 17986787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 17958221 17986757 Gain and loss Pancreatic cancer SNP array 17952125 chr8 17958239 17958695 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 17980172 17980272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 1798631 1798730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 17995112 17995212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 180000 34350000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr8 1 80225538 Gain Wilms tumour 250K Genotyping Arrays 21544195 chr8 18037035 18037792 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1803976 1848711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 180568 1131057 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 180568 11941938 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 180568 12040126 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 180568 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 180568 20116050 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 180568 25681600 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr8 180568 30005683 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 180568 30556573 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 180568 320846 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 180568 36086137 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 180568 36969176 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 180568 5568296 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 180568 604843 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 18063960 18064040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18067289 18081197 Deletion Prostate cancer aCGH 22341455 chr8 18087717 19827568 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 1 8092657 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 18111895 18125096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 18111895 18125096 Gain and loss Pancreatic cancer SNP array 17952125 chr8 18111895 18125096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 18122048 21304895 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 181530 18429791 Deletion Acute myeloid leukemia - 21251322 chr8 181530 37538525 Deletion Acute myeloid leukemia - 21251322 chr8 181530 37913593 Deletion Acute myeloid leukemia - 21251322 chr8 181530 391354 Increase Cancer CGH 20581869 chr8 18153855 18153954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18164483 18164552 Gain and loss Pancreatic cancer SNP array 17952125 chr8 18164483 18164552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1 8200000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr8 182000 9782000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr8 1821701 1827000 Deletion Glioma mate-paired sequence 20126413 chr8 18237470 18239347 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 18239056 18239138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18248754 18258722 Deletion Prostate cancer aCGH 22341455 chr8 18268730 18357165 Gain aortic dissecting aneurysms Array-CGH 22263138 chr8 18271689 18271760 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 18279958 18280048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18285223 18285707 Gain and loss Pancreatic cancer SNP array 17952125 chr8 18293035 18302962 Gain and loss Pancreatic cancer SNP array 17952125 chr8 18293035 18303003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 18293035 18303003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 18378643 18378743 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18384812 18871195 Deletion Prostate cancer aCGH 22341455 chr8 18429093 18915476 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 18429093 18915476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 18429093 18915476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 18430276 18430590 Gain and loss Pancreatic cancer SNP array 17952125 chr8 18432349 18915476 Gain and loss Pancreatic cancer SNP array 17952125 chr8 18442464 18442564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18444670 18444763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18496801 18502300 Deletion Glioma mate-paired sequence 20126413 chr8 18498892 18500224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1851431 1851555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18591364 18646634 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 18617329 18617463 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18617370 18617470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18617462 18617571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18622695 18636191 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 18622695 18636191 Gain and loss Pancreatic cancer SNP array 17952125 chr8 18622695 18636191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 18661753 18669772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 18679555 18679655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18695732 18696705 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 1 8700000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr8 18707740 18734877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 18718454 18718554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18720000 21930000 Loss Acute lymphoblastic leukemia - 21339820 chr8 18721785 18721885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18728828 18784118 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 18742076 18742176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18752127 18752227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18805668 18849748 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 18846542 18953095 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 18846707 21549473 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 1885157 1886157 Loss Renal cell carcinoma References 21215367 chr8 18870766 18870854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 18875108 21922608 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 18881409 18881562 Gain and loss Pancreatic cancer SNP array 17952125 chr8 18881409 18881562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 18881417 18881563 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1888756 1888902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 18890869 20035408 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr8 18899978 18902243 Gain Normal 244K array 17666407 chr8 18945870 18977416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 18983547 53650298 Loss Pancreatic endocrine tumor Xba1 GeneChip Mapping 50K Assay Kit 17639061 chr8 18998093 18999093 Gain Renal cell carcinoma References 21215367 chr8 19000000 23300000 Amplification Cancer array CGH 18840272 chr8 19000000 23300000 Loss Breast cancer oligonucleotide CGH arrays 19602461 chr8 19000000 27400000 Loss Osteosarcoma Agilent 244K arrays 19286668 chr8 19000000 28800000 Copy number Prostate cancer Real-time PCR 19258508 chr8 19000000 28800000 Loss Prostate cancer Affymetrix 250K SNP array 19242612 chr8 19000000 36500000 Loss and deletion Multiple myeloma Array CGH 16616336 chr8 19003344 19004344 Gain Renal cell carcinoma References 21215367 chr8 19035043 19160673 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 1909451 1942509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 1909451 1942509 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1909451 1942509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 19095768 19140626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 19099539 19099810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 19099743 25023447 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 19100000 23400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 19100000 23400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 19100000 23400000 Loss Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr8 19100000 23400000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 chr8 19100000 23400000 Loss Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr8 19100000 27400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 19100000 29700000 Copy number Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr8 19100000 29700000 Gain Multiple myeloma CGH, FISH 16461302 chr8 19100000 29700000 Gain Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr8 19171080 19253728 Deletion Prostate cancer aCGH 22341455 chr8 19191459 19288547 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 19212310 19212410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 19215483 19297594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 19215483 19297594 Gain and loss Pancreatic cancer SNP array 17952125 chr8 19215483 19297594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 19250922 19284621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 19261671 19540260 Deletion Prostate cancer aCGH 22341455 chr8 1927103 1929865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 19305951 19659662 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 19305952 19584374 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 19305952 19584374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 19305952 19584552 Gain and loss Pancreatic cancer SNP array 17952125 chr8 19340160 19341160 Loss Renal cell carcinoma References 21215367 chr8 19385968 19386032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 19408244 35523310 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr8 19408795 19408895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 19412791 19447324 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 19413085 19413179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 19419241 19419341 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 19421846 19421925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 194407 194507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 19450295 19451295 Loss Renal cell carcinoma References 21215367 chr8 19455939 19456239 Loss Renal cell carcinoma References 21215367 chr8 1947417 1951113 Duplication Non-syndromic sensorineural hearing loss single nucleotide polymorphism (SNP) array 22297974 chr8 19486408 19518510 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 19500730 19501992 Gain and loss Pancreatic cancer SNP array 17952125 chr8 19500730 19501992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1954169 2643823 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 19543834 19588529 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 19556614 19557614 Loss Renal cell carcinoma References 21215367 chr8 19570690 19578537 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 19584205 19978991 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 19587365 19868412 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr8 1959830 4666934 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 1961894 1989162 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 19622208 19623353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 19623610 19623695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 19651026 26038850 Gain and loss Esophageal adenocarcinoma BAC array 19417022 chr8 19674917 19709588 Deletion Prostate cancer aCGH 22341455 chr8 19693827 19693908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 19719198 19753864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 19719198 19753864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 19719277 19753864 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1973985 1992753 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 19756316 19756810 Gain and loss Pancreatic cancer SNP array 17952125 chr8 19756316 19756810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 19784469 19917362 Loss Normal 244K array 17666407 chr8 19796581 19824769 Deletion Prostate cancer aCGH 22341455 chr8 1980565 2080779 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 1980565 2080779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 1980612 2080779 Gain and loss Pancreatic cancer SNP array 17952125 chr8 19840870 19869050 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 19840870 19869050 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 19841058 19869049 Gain and loss Pancreatic cancer SNP array 17952125 chr8 1988752 2031770 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 19900359 19901359 Gain Osteosarcoma References 21215367 chr8 1990405 1990545 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 19904290 19904590 Loss Chordoma References 21215367 chr8 1990512 1990701 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 19935905 19936905 Gain Osteosarcoma References 21215367 chr8 19978991 20965956 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 20002365 20040716 Deletion Prostate cancer aCGH 22341455 chr8 20021281 20021380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20023223 20023266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20024543 20024857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 20044621 20045621 Loss Chordoma References 21215367 chr8 20045893 20045982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20046647 20084997 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20046652 20084997 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 20046652 20084997 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 20054703 20079206 Deletion Prostate cancer aCGH 22341455 chr8 20056378 20057378 Gain Chordoma References 21215367 chr8 20065625 20409101 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr8 20065625 20483927 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr8 20067065 20067165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20090860 21545216 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 20098984 20123485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 20098984 20123485 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20098984 20123485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 20100434 20145074 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2010278 2062114 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 20103675 20112802 Deletion Prostate cancer aCGH 22341455 chr8 20130434 20130493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20131570 20131649 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20131570 20131668 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 20131570 20131669 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20135001 20157000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 20142853 20143853 Loss Chordoma References 21215367 chr8 20147514 20148741 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 20147956 20205754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 20147956 20205754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2015035 2016035 Gain Renal cell carcinoma References 21215367 chr8 20151294 20152294 Gain Chordoma References 21215367 chr8 20151513 20157083 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20159816 20160116 Gain Renal cell carcinoma References 21215367 chr8 20165449 20166449 Loss Renal cell carcinoma References 21215367 chr8 20169287 25055251 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 20191965 20192054 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20191965 20192073 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20191965 20192080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 20195259 20224972 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 20261536 20262536 Loss Renal cell carcinoma References 21215367 chr8 20273229 20559087 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 20283579 20283679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20312061 20313061 Gain Renal cell carcinoma References 21215367 chr8 20315194 20315278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20331966 20332966 Gain Osteosarcoma References 21215367 chr8 20340124 20340218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20393586 20394586 Loss Osteosarcoma References 21215367 chr8 20399766 20399846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20422689 20422764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2042502 4914636 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 20440067 20440162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20452888 20452992 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20452888 20452992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 20453303 20453403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20494667 20494760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20516622 20516717 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20516622 20516717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2053441 6259545 Deletion Cancer Affymetrix 250K Sty array 20164920 chr8 20537479 20537582 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 20537479 20537608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 20577324 23167554 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 2062844 2063159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 2067801 2069206 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 206819 231036 Gain and loss Pancreatic cancer SNP array 17952125 chr8 20715579 20716579 Gain Renal cell carcinoma References 21215367 chr8 20728957 20729057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2080589 6255647 Deletion Normal Arbitrated Peel-off 21527027 chr8 2080589 6255647 Deletion Normal GeneGISTIC 21527027 chr8 2080589 6255647 Deletion Normal Standard peel-off 21527027 chr8 20826846 20838841 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 20827875 20829020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 20865144 20898017 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 20883714 20883784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2089120 2089220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2090044 2090144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 20914401 20947840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2093442 2093482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2096466 2426337 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 2096466 3804599 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 20975643 20975943 Gain Chordoma References 21215367 chr8 20987684 20988086 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 20992186 21005086 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 2104592 2104647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2104655 2128636 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 21049777 21049809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2105020 2279641 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 2105020 2312389 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 2105020 2411266 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr8 2105020 2411266 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 2109490 2109752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 2110306 2131143 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 2113807 2120783 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 2115468 2129674 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 2115468 2129781 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 211611 432326 Loss Bladder cancer array-CGH 21909424 chr8 2116954 2129674 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 2116954 2129964 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 2116965 2122376 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 2116988 2132375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 21170892 21176126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2117743 2177295 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 21188347 21318056 Duplication Depressive disorder Perlegen 600K platform 21152026 chr8 2120783 2128869 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 21210586 21211586 Loss Osteosarcoma References 21215367 chr8 21212501 21216500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 21215670 21216670 Gain Osteosarcoma References 21215367 chr8 21216491 21261490 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 212185 257141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 21227969 21228969 Gain Osteosarcoma References 21215367 chr8 21229839 21230139 Loss Osteosarcoma References 21215367 chr8 21242 41462532 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr8 2124382 2130138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2124589 2154129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 21254 153414 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 21254327 21254593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 21254830 21255268 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 21255 3307156 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 21275109 21275209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21278604 21279604 Gain Osteosarcoma References 21215367 chr8 2128869 2129634 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 2129634 2130334 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 21302938 21303938 Loss Osteosarcoma References 21215367 chr8 2130334 2140220 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 21304895 22135548 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 21316576 21330456 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 21333001 21334000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 21351104 21351204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21354156 21354533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 21354708 21400768 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2135751 2135838 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 21374066 21380667 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 21375549 21375649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21397220 21429697 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2140220 2140221 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 2140221 2145353 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 21403845 21403932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21408650 22539377 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 chr8 21446501 21562500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 21452062 21452162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2145353 2145354 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 2145354 2172371 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 21500252 21500598 Gain and loss Pancreatic cancer SNP array 17952125 chr8 21500252 21500598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2150596 2150696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21509252 21509352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21521907 21539060 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 21549473 23206007 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 21562501 21834000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 2156514 2156614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2158864 2323421 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 21593809 21702292 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 21593812 21702292 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 21593812 21702292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 21593812 21702292 Gain and loss Pancreatic cancer SNP array 17952125 chr8 21593812 21702292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 21600067 21600141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21613065 21614065 Loss Cancer Human 24 color M-FISH 21215367 chr8 21613065 21614065 Loss Osteosarcoma References 21215367 chr8 21621351 21621409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21717088 21717128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2171813 2192861 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2172371 2188792 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 21733698 21733770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2175801 2277000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 21772802 21772902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21785373 21785473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2180064 2254981 Copy number Lung cancer paired-end sequencing 18438408 chr8 21809078 21809178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21822334 21827151 Gain and loss Pancreatic cancer SNP array 17952125 chr8 21822336 21827151 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 21822336 21827151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 21822336 21827151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 21830000 21960000 Gain Breast cancer aCGH 21509527 chr8 21833122 21918924 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 21833126 21920041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 21833128 21918924 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2187939 2271999 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 2188792 2189747 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 2189747 2235234 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 21901738 22835229 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-586K arrays 21546498 chr8 2190488 2371402 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 21923501 21937000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 21937001 21939500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 21937591 21951080 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 21937591 21951080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 21937591 21951080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 21938706 21950139 Gain and loss Pancreatic cancer SNP array 17952125 chr8 21941749 21942749 Gain Renal cell carcinoma References 21215367 chr8 21941882 21942882 Gain Renal cell carcinoma References 21215367 chr8 21945810 21945908 Gain and loss Pancreatic cancer SNP array 17952125 chr8 21945810 21945908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 21950001 21972500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 2195551 2281598 Copy number Lung cancer paired-end sequencing 18438408 chr8 21956372 21962263 Gain and loss Pancreatic cancer SNP array 17952125 chr8 21956373 21962265 Gain or loss Breast cancer - 20668451 chr8 21956373 21962265 Gain or loss Cancer - 20668451 chr8 21956373 21962265 Gain or loss Lung cancer - 20668451 chr8 21956373 21962265 Gain or loss Ovarian cancer - 20668451 chr8 21956373 21962265 Gain or loss Pancreas cancer - 20668451 chr8 21956373 21962265 Gain or loss Prostate cancer - 20668451 chr8 21956374 21962263 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 21956374 21962263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 21956374 21962263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2196322 2196422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 21967026 21995982 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 21967102 21995981 Gain and loss Pancreatic cancer SNP array 17952125 chr8 21971322 21995982 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 21971322 21995982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 21971322 21995982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 21972501 22009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 21975069 21976069 Gain Osteosarcoma References 21215367 chr8 21994688 21994762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2200000 12700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 2200000 12700000 Deletion Intellectual disability - 22045946 chr8 2200000 146274826 Gain Seminomas CGH, Comparative expressed sequence hybridisation 18059402 chr8 2200000 19100000 Loss Malignant fibrous histiocytomas aCGH 21085701 chr8 2200000 29700000 Loss Breast cancer Array CGH 16608533 chr8 2200000 39700000 Loss Prostate cancer Array CGH 16573809 chr8 2200000 45600000 Loss High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 2200000 6200000 Amplification Colorectal cancer GISTIC software 19359472 chr8 2200000 6200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 2200000 6200000 Copy number Neuroticism SNP array 17667963 chr8 2200000 6200000 Deletion Heart disease Illumina 618Quad Beadchip platform 21282601 chr8 2200000 6200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr8 2200000 6200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 2200000 6200000 Gain Disorders of sex development oligo V6.1 21048976 chr8 2200000 6200000 Gain Non-small cell lung cancer dChip 21829676 chr8 2200000 6200000 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr8 2200000 6200000 Loss Prostate cancer Human version 2.0 BAC arrays 17217626 chr8 2200000 6200000 Microdeletion Developmental delay BAC array CGH 19128483 chr8 22002660 22017835 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22002660 22017835 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22002660 22017835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2200530 2200630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22009001 22082000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22009790 22010299 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22019887 22019987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22020328 22023403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22020328 22023403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22020329 22023403 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2202748 2203530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 22027877 22045326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22027877 22045326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22028527 22045326 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2204664 5907154 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 22048424 26308678 Gain Normal Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr8 22051478 22055393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22051478 22055393 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22051478 22055393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22060287 22070289 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 22060290 22070290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22060290 22070290 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22060290 22070290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22072178 22077936 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 22072179 22077928 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22075129 22077934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22075129 22077934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2207694 2207751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22078645 22125782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22078645 22125782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22078835 22125782 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22082001 22147500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22083304 22083926 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22083304 22083926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2209252 6655643 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr8 22125332 30139123 Deletion Cancer Affymetrix 250K Sty array 20164920 chr8 22133162 22145796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22133181 22145549 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22158420 22158501 Amplification Acute myeloid leukemia BAC aCGH 20962326 chr8 22158420 22158501 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22158420 22158501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22158562 22164624 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22158564 22164624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22158564 22164624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22163282 22195880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 22169004 22169098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22188772 22269529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22188772 22269529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22188796 22438596 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22188800 22269531 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 2219530 2219617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2219977 2323421 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 222152 223442 Loss Normal aCGH 21627829 chr8 22241469 22414061 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 22256093 22376751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 22257541 22257628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22265995 22266067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22280706 22336143 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 22280737 22347462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22280737 22347462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22280737 22347583 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22282033 22312824 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 22290483 22382957 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 22298435 22298494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2230773 2257418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2231764 2232764 Loss Chordoma References 21215367 chr8 2234351 2254162 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 2234351 2254162 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 2234553 2246753 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 22347849 22347945 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22347849 22347951 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22347849 22347955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22351219 22351263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2235234 2242044 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 22354540 22454582 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 22354541 22454580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22354541 22454580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22354541 22454597 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2237428 2252213 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 2237428 2252213 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 2237428 2252213 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 22405997 22406543 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22406066 22406537 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2241102 2251073 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 2241489 2251040 Loss Normal 244K array 17666407 chr8 2241777 2242777 Loss Chordoma References 21215367 chr8 2242044 2242045 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 2242045 2246765 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 2242045 2246765 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 2242082 2258546 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 2242082 2259833 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 2243099 2243494 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 2243760 2252213 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 2243760 2252213 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 2243942 2249691 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 22454965 22455965 Loss Renal cell carcinoma References 21215367 chr8 22460503 23503866 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 22464501 22516000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22465196 22488952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22465196 22488952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2246765 2246766 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 2246766 2284698 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 22467965 22488952 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22473575 22473875 Loss Renal cell carcinoma References 21215367 chr8 22476954 22477003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22492199 22511483 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22492587 22511483 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 22492588 22511483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22492588 22511483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22513059 22517605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22513059 22517605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22514372 22517591 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22516001 22521500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22518046 22518420 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22518202 22533920 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22518202 22533920 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22518202 22533920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22527501 22532000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22532001 22551000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22533894 22582540 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22533906 22582553 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22533906 22582553 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22551001 22603000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22583902 22615332 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2258870 2258959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2259557 2260557 Loss Chordoma References 21215367 chr8 22601119 22606760 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22601119 22606760 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22601119 22606760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22603001 22605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22603700 22603800 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22604086 22604180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22605501 22699000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22626709 22841366 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 22626710 22841366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22626710 22841366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22626712 22841362 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22634817 24281422 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 22646611 22647611 Loss Chordoma References 21215367 chr8 22655471 22656471 Loss Chordoma References 21215367 chr8 22699001 23201500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 22727860 22727960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 22732250 22732550 Gain Chordoma References 21215367 chr8 2275559 2275629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2276541 42941448 Copy number Lung cancer paired-end sequencing 18438408 chr8 22773607 22773607 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 2278731 6917391 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 2283378 2288941 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 2284698 2360657 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 22891335 22891585 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22891335 22891585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22900874 22933653 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr8 22900875 22933656 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22913059 22933655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22913059 22933655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22917884 22918884 Gain Chordoma References 21215367 chr8 22931881 22934293 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr8 22933592 22982637 Gain or loss Breast cancer - 20668451 chr8 22933592 22982637 Gain or loss Cancer - 20668451 chr8 22933592 22982637 Gain or loss Lung cancer - 20668451 chr8 22933592 22982637 Gain or loss Ovarian cancer - 20668451 chr8 22933592 22982637 Gain or loss Pancreas cancer - 20668451 chr8 22933592 22982637 Gain or loss Prostate cancer - 20668451 chr8 22933598 22982637 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22933598 22982637 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22933598 22982637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 22950558 22950637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2299501 7078156 Copy number Lung cancer paired-end sequencing 18438408 chr8 22997813 23030891 Gain and loss Pancreatic cancer SNP array 17952125 chr8 22997813 23030895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 22997813 23030895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2300376 2576489 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-593K arrays 21546498 chr8 23009988 23156129 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 23026645 23175450 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2303623 2411266 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 23036323 23036423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23038926 23039026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23049051 23077485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23049051 23077485 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23049051 23077485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2306558 2573964 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 2306558 2573964 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 23089086 23090086 Loss Chordoma References 21215367 chr8 2309628 2583823 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-601K arrays 21546498 chr8 23101345 23101445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2310429 2601049 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 23104914 23138584 Gain or loss Breast cancer - 20668451 chr8 23104914 23138584 Gain or loss Cancer - 20668451 chr8 23104914 23138584 Gain or loss Lung cancer - 20668451 chr8 23104914 23138584 Gain or loss Ovarian cancer - 20668451 chr8 23104914 23138584 Gain or loss Pancreas cancer - 20668451 chr8 23104914 23138584 Gain or loss Prostate cancer - 20668451 chr8 23104916 23138584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23104916 23138584 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23104916 23138584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2310773 2573964 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 2310773 2573964 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 23157095 23175450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23157095 23175450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23170000 26200000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 chr8 2318162 2570605 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 23182631 23183631 Gain Chordoma References 21215367 chr8 23201501 23261000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 23201559 23209733 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 23201577 23209736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23201577 23209736 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23201577 23209736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23206007 26925943 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 23210097 23317667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23210097 23317667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23210431 23584604 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 23210641 23317575 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2326916 3462554 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr8 23274995 23308648 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 23299386 23371081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23299386 23371081 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23299386 23371081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23300000 117700000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr8 23300000 146274826 Gain Testicular cancer CGH, Comparative expressed sequence hybridisation 18059402 chr8 23300000 27400000 Copy number Autism References 19204725 chr8 23300000 27400000 Copy number Schizophrenia References 19204725 chr8 23300000 27400000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr8 23300000 66100000 Loss Disorders of sex development oligo V5.0 21048976 chr8 23300000 74000000 Loss Glioblastoma multiforme conventional CGH 21080181 chr8 23314804 23315804 Gain Renal cell carcinoma References 21215367 chr8 23331179 23331479 Loss Renal cell carcinoma References 21215367 chr8 23372368 27249779 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr8 23400000 27400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 23400000 27400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 23400000 27400000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 chr8 23400000 38500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 23400000 38500000 Copy number Breast cancer - 21806811 chr8 23435345 23435445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23442308 23486008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23442308 23486008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23442414 23485661 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23448465 23448755 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23463165 23463804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 23485215 23486138 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 23488112 23492249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23496027 23497027 Gain Renal cell carcinoma References 21215367 chr8 23503787 23503836 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 23503866 23898652 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 2350792 2351354 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 23511720 23525986 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 23513234 23546728 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 23513469 23513596 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2351860 2351968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 23534229 24759208 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 23534229 24759208 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 23534643 24759208 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 23534643 24759208 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 23536304 24759208 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 23547288 23547606 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 23570501 24759208 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 23582247 23671417 Gain aortic dissecting aneurysms Array-CGH 22263138 chr8 23592878 23596395 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23593981 23596347 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2360657 2380567 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 23615501 23621000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 23615909 23620056 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23615909 23620056 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23615909 23620056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23622462 24759208 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 23622462 24759208 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 23623507 23623591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23626418 23626509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23634973 23635073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2364245 2364345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23682014 23682103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23685197 24050363 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 23692226 23702142 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 23719687 23719835 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23719687 23719835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23755379 23768265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 23755379 23768265 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23755379 23768265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 23764436 24113806 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 2380567 2382517 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 23809065 23809165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23811723 23811968 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 23823139 23824139 Loss Renal cell carcinoma References 21215367 chr8 23859175 24699308 LOH Normal High-resolution SNP genotyping 21211785 chr8 23879278 23879378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23884048 23885048 Loss Renal cell carcinoma References 21215367 chr8 23887740 23888740 Loss Renal cell carcinoma References 21215367 chr8 23898652 25139408 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 23954409 23954543 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 23972335 23972435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 23990455 23990616 Gain and loss Pancreatic cancer SNP array 17952125 chr8 23990455 23990616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2400850 2400950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24038264 24038364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24040020 24041020 Gain Chordoma References 21215367 chr8 2412413 2412513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24162764 24162864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24175272 24175372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24189670 24221735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 24201254 24207029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 24201375 24207011 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 24207525 24273005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 24207525 24273005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 24207561 24268547 Gain and loss Pancreatic cancer SNP array 17952125 chr8 24208791 24208843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24245094 24682182 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 24245094 24792789 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 24255233 24256233 Loss Chordoma References 21215367 chr8 24295144 24295244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24297916 24319471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 24297916 24319471 Gain and loss Pancreatic cancer SNP array 17952125 chr8 24297916 24319471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 24354454 24424839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 24354454 24424839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 24354484 24440371 Gain and loss Pancreatic cancer SNP array 17952125 chr8 24372054 24372154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24400000 36300000 Loss Acute lymphoblastic leukemia - 21339820 chr8 24452265 24453998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 2447802 2475268 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 24478628 24478728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24556264 24556364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2457076 2475268 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 24586554 24631590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 24587853 24587953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24612795 24612855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24623739 24623826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24626766 27130684 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr8 2467933 2468297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 24695173 24695273 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24759803 25977411 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 24761360 24764358 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 2479269 2479352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24827001 24828500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 24827179 24832511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 24827179 24832511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 24827212 24832511 Gain and loss Pancreatic cancer SNP array 17952125 chr8 24838581 25770702 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 24864385 24870043 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 chr8 24864385 24870541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 24864385 24870541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 24866240 24869946 Gain and loss Pancreatic cancer SNP array 17952125 chr8 24868501 24870000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 24895541 24995559 Copy number Obesity - 20935630 chr8 24905439 29156213 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 24924413 24924488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 24980920 24981464 Gain Normal 244K array 17666407 chr8 24981464 24990511 Gain Normal 244K array 17666407 chr8 25001296 25001594 Loss Normal 244K array 17666407 chr8 25018449 25067613 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25018849 25049235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25026201 25048800 Deletion Glioma mate-paired sequence 20126413 chr8 25026418 25040250 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25026418 25047032 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25026647 25081492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25026679 25046195 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 25026679 25046195 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 25026771 25063654 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25027546 25040250 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25027558 25035904 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25027823 25047036 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 25027823 25047036 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 25027823 25047205 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 25027823 25047205 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 25028104 25047021 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25028105 25047178 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 25028319 25046810 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 25028331 25043895 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 25028350 25046860 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25028501 25046500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 25029769 25047205 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 25029769 25047205 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 25030348 25047032 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25030348 25047730 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25030348 25047912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25030360 25030439 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 25030360 25040250 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25030381 25047032 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25030381 25047912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25030382 32807942 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 25030393 25040140 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25030439 25040250 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 25030439 25040250 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 25031405 25035834 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25031405 25047912 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25032107 25047032 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25032119 25035904 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25032119 25039986 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25032119 25040140 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25032119 25047021 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 25032788 25040703 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 25034330 25034623 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 25034999 25047279 Loss Normal 244K array 17666407 chr8 25035487 25035814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25036551 25036628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 25038472 25171648 Copy number Parkinson disease PennCNV and QuantiSNP 21829596 chr8 25048863 42954807 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 25064950 25104790 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 25094940 25095148 Gain and loss Pancreatic cancer SNP array 17952125 chr8 25094940 25095148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 25098155 25326536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 25098155 25326536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 25098204 25326530 Gain and loss Pancreatic cancer SNP array 17952125 chr8 25104790 37280959 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 25107348 25128037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25120601 25128600 Deletion Glioma mate-paired sequence 20126413 chr8 25120729 25131128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25121283 25141729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25122501 25126500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 25122547 25126603 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 25122596 25126569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25122647 25126577 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 25129709 25130278 Copy number Non-syndromic sensorineural hearing loss Illumina Beadchip 370K 19587683 chr8 25129709 25130278 Deletion Non-syndromic sensorineural hearing loss 370K2 19587683 chr8 25139408 27056940 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 25164152 25407845 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 25172428 25172659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 25176314 25180316 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 252314 12836437 Gain Normal Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr8 25259992 25260217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25285991 26284563 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 chr8 25285991 26284563 Gain or loss Breast cancer - 20668451 chr8 25285991 26284563 Gain or loss Cancer - 20668451 chr8 25285991 26284563 Gain or loss Lung cancer - 20668451 chr8 25285991 26284563 Gain or loss Ovarian cancer - 20668451 chr8 25285991 26284563 Gain or loss Pancreas cancer - 20668451 chr8 25285991 26284563 Gain or loss Prostate cancer - 20668451 chr8 25290973 25291073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2530350 5909600 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr8 25322031 25356094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 25323799 25358111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25324942 25478051 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 25332693 25338473 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 25332693 25338473 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 25332697 25338087 Gain and loss Pancreatic cancer SNP array 17952125 chr8 25341283 25371837 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 25341283 25371837 Gain and loss Pancreatic cancer SNP array 17952125 chr8 25341283 25371837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 25372428 25421342 Gain and loss Pancreatic cancer SNP array 17952125 chr8 25372428 25421353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 25372428 25421353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 25372429 25421342 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 25383139 25383195 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 25420601 25420601 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr8 25420840 25420940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 25421046 25421273 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 25451542 25492953 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25466592 25472548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25484458 25529181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2550000 8850000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 chr8 2556376 2556482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25574066 25643560 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 25593102 27952579 LOH Normal High-resolution SNP genotyping 21211785 chr8 25594022 25594122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 25606362 25607565 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25637230 25642776 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 25657726 25657801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 25668568 25704909 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 25678528 25678651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25681601 89256109 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr8 25686899 25687011 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 25697332 25697432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 25704909 29437310 LOH Normal High-resolution SNP genotyping 21211785 chr8 25711850 25711924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 25755569 25857299 Gain Normal 244K array 17666407 chr8 25757489 25958309 Amplification or deletion Normal BAC aCGH 22315515 chr8 25757490 25803239 Gain and loss Pancreatic cancer SNP array 17952125 chr8 25758042 25958292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 25758042 25958292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 25834686 25834786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 25855937 25888559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25856744 25857271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 25893544 25894544 Loss Renal cell carcinoma References 21215367 chr8 25953001 25965500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 25973925 26018715 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 25995446 26029522 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 2601049 6873163 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 26018745 26018845 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26050313 26050431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 26050314 26050431 Gain and loss Pancreatic cancer SNP array 17952125 chr8 26050314 26050432 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2606688 6891605 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 26150694 26150789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26159204 26159859 Gain Normal 244K array 17666407 chr8 26168249 28223645 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 26204951 26284562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 26204951 26284562 Gain and loss Pancreatic cancer SNP array 17952125 chr8 26204951 26284562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 26217988 26218066 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26240522 26270643 Deletion Prostate cancer aCGH 22341455 chr8 26250052 26287253 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 26296439 26326561 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 chr8 26296440 26326561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 26296440 26326561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 26296564 26323845 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2631134 2631224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26353979 26354079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26418113 26427400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 26418113 26427400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 26418141 26427328 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2641815 2644543 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 26423979 26424079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26427707 26571610 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 2643823 3483482 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 26468050 26468150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26473239 26505417 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 26474023 26508259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 26491327 26571607 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 26491327 26571607 Gain and loss Pancreatic cancer SNP array 17952125 chr8 26491327 26571607 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2651555 2651655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26603300 26603347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26619357 26619456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26661584 26778839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 26661584 26778839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 26661953 26778839 Gain and loss Pancreatic cancer SNP array 17952125 chr8 26674613 26674706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26676344 26676438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26715687 26715787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26738869 27259735 LOH Normal High-resolution SNP genotyping 21211785 chr8 26742559 26742762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26773252 26773331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26777501 26780000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 26791202 28151037 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 26812629 26812699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 2682188 2682288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26829647 26948131 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 2690928 2691294 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 26924108 26925580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 26924582 26925580 Gain and loss Pancreatic cancer SNP array 17952125 chr8 26925943 27855927 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 26935440 26942727 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 26935440 26942727 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 26948279 26948379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26959768 26959868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 26962287 26962397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 269633 846308 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-602K arrays 21546498 chr8 27035249 27037571 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 27056940 27338930 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 27060951 27061187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 27061138 27061226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27091251 27091351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27111864 27111964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27140000 28870000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 chr8 27149501 27580000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 27149733 27171843 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27149738 27171843 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27149738 27171843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27150274 27180241 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr8 27151734 27196834 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 27164699 27164773 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 27173019 27173114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27198320 27224751 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 27198321 27224751 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27198321 27224751 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27198321 27224751 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27200000 27336000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr8 27224915 27372820 Copy number Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr8 27224915 27372820 Gain or loss Breast cancer - 20668451 chr8 27224915 27372820 Gain or loss Cancer - 20668451 chr8 27224915 27372820 Gain or loss Lung cancer - 20668451 chr8 27224915 27372820 Gain or loss Ovarian cancer - 20668451 chr8 27224915 27372820 Gain or loss Pancreas cancer - 20668451 chr8 27224915 27372820 Gain or loss Prostate cancer - 20668451 chr8 27224916 27372820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27224916 27372820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27236230 27236318 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 27238971 27372824 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27249269 27249367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27259693 27259793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27260443 27261060 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27260443 27261060 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2727195 2727418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 27276737 27276837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27318072 27319072 Gain Chordoma References 21215367 chr8 27338930 28664283 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 27362525 27362625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27373196 27392730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27373196 27392730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27374182 27392675 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27400000 29700000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr8 27400000 29700000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr8 27400000 29700000 Loss Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 chr8 27400000 29700000 Loss Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 27400000 45600000 Deletion Hepatocellular carcinoma Array CGH 16750200 chr8 27400000 45600000 Loss Bladder cancer Affymetrix GeneChip Mapping 10K 2.0 19088036 chr8 27404562 27458403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27404562 27458403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27404578 27458353 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2742477 2762045 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 27491966 27528215 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27491966 27528215 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27510367 27528244 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 27510369 27528244 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27510652 27511652 Loss Cancer Human 24 color M-FISH 21215367 chr8 27510652 27511652 Loss Chordoma References 21215367 chr8 27547304 27590211 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27547304 27590211 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27547304 27590211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27547495 27590205 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 27580001 27590000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 27586015 27586069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27593268 27593371 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27593268 27593371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27593272 27593371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27646751 27686089 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 27646754 27686089 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27646756 27686089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27646756 27686089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27658877 27899005 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-591K arrays 21546498 chr8 2765971 2766194 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 27668478 27668558 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27668478 27668558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2767073 2767173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27678573 37057454 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr8 27687081 27687183 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27687081 27687187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27687082 27687172 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27687977 27721664 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27687977 27721664 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27687990 27718661 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27718420 27718749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 27723059 27751268 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27723061 27751268 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27723061 27751268 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27739965 27740250 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 27783668 27906117 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 27783672 27906117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27783672 27906117 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27783672 27906117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27784584 27817389 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 27789001 27922500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 2780281 4839736 Amplification or deletion Normal BAC aCGH 22315515 chr8 2780281 4839736 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 2780281 4839736 Copy number Normal Illumina Human610-Quad BeadChip 21660214 chr8 2780281 4839736 Deletion Normal GISTIC2.0 21527027 chr8 2780281 4839736 Duplication Normal References 22138850 chr8 2780281 4839736 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr8 2780281 4839736 Loss Colorectal cancer SNP arrays 22014273 chr8 2780282 3258996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 2780282 3258996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 2782790 3254536 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27841436 27841536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27855927 31982731 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 27901842 27901942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 27935607 27997307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27935607 27997307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 27935646 27946989 Gain and loss Pancreatic cancer SNP array 17952125 chr8 27999759 28104584 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 27999759 28104584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28006645 28104584 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28020814 28020914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 28111767 28112767 Loss Chordoma References 21215367 chr8 28133065 28142218 Loss Normal 244K array 17666407 chr8 28163974 28170312 Loss Normal 244K array 17666407 chr8 28191137 28200833 Loss Normal 244K array 17666407 chr8 28205261 28205351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 28208420 28243561 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 28209403 28209503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 28213167 28213960 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28217924 28218024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 28230568 28256785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 28230568 28256785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28230568 28256786 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28245188 28245338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 28252501 28276000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 28256315 28256843 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 28259023 28299896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 28259023 28299896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28259023 28403703 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28263596 28308463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 28326318 28350833 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 28326318 28359684 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 28329884 28329987 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28329884 28329987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28341847 28403703 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 28341848 28403754 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 28341848 28403754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28366638 28368429 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 28407691 28477880 Gain or loss Breast cancer - 20668451 chr8 28407691 28477880 Gain or loss Cancer - 20668451 chr8 28407691 28477880 Gain or loss Lung cancer - 20668451 chr8 28407691 28477880 Gain or loss Ovarian cancer - 20668451 chr8 28407691 28477880 Gain or loss Pancreas cancer - 20668451 chr8 28407691 28477880 Gain or loss Prostate cancer - 20668451 chr8 28407692 28477878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 28407692 28477878 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28407692 28477878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28443847 28443935 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28443847 28443955 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28443847 28443955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28465450 28465750 Gain Renal cell carcinoma References 21215367 chr8 28470065 28674057 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-615K arrays 21546498 chr8 28519522 28520196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 28615050 28667116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 28615050 28667116 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28615050 28667116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28615327 28615477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 28620759 29156213 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 28664283 29538452 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 28681099 28788276 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28681099 28803398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 28681099 28803398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28695886 28695953 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28695886 28695953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28729843 28733644 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2874560 2878623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 28800000 146364022 Gain Breast cancer Microarray-based CGH 17133270 chr8 28800000 36500000 Amplification Breast cancer 32K, 33K and 38K array-based CGH 20459607 chr8 28800000 36500000 Copy number Neuroticism SNP array 17667963 chr8 28800000 36500000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr8 28800000 36500000 Deletion Colorectal cancer PCR 16912164 chr8 28800000 36500000 Gain Breast cancer Microarray-based CGH 17133270 chr8 28800000 43100000 Copy number Non-muscle invasive bladder neoplasm Affymetrix GeneChip Mapping 10K and 50K SNP microarrays 19445696 chr8 28800000 45600000 Amplification Breast cancer Q-Real-Time PCR 17001308 chr8 28800000 45600000 Amplification Breast cancer Scanning and OncoBAC array CGH, Affymetrix U133A arrays 17157792 chr8 28800000 45600000 Amplification Cancer array CGH 18840272 chr8 28800000 45600000 Amplification Cancer Q-Real-Time PCR 17001308 chr8 28800000 45600000 Amplification head and neck squamous cell carcinoma CGH 17671120 chr8 28800000 45600000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr8 28800000 61600000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr8 28803830 28966706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 28803830 28966706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28804164 28804937 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 28809818 28810138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 28829015 28829300 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28829015 28829300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28829982 28893758 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 28871609 28904402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 28875840 28875957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 28877304 28965334 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28916431 28916531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 28961930 28962040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28961936 28962040 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28961951 28962039 Gain and loss Pancreatic cancer SNP array 17952125 chr8 28980001 28990000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 28980713 29176529 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 28980715 29176529 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 28980715 29176529 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 28980715 29176560 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 28980715 29176560 Gain and loss Pancreatic cancer SNP array 17952125 chr8 2900574 5256090 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 29147511 31607545 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 chr8 29183410 29183497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 29199094 29199173 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 29207272 29207330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 29237975 29238073 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 29249536 29264104 Deletion Breast cancer - 21949216 chr8 29249536 29264104 Gain or loss Breast cancer - 20668451 chr8 29249536 29264104 Gain or loss Cancer - 20668451 chr8 29249536 29264104 Gain or loss Lung cancer - 20668451 chr8 29249536 29264104 Gain or loss Ovarian cancer - 20668451 chr8 29249536 29264104 Gain or loss Pancreas cancer - 20668451 chr8 29249536 29264104 Gain or loss Prostate cancer - 20668451 chr8 29249539 29264104 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 29249539 29264104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 29249539 29264104 Gain and loss Pancreatic cancer SNP array 17952125 chr8 29249539 29264104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 29261001 29266500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 29283626 29284626 Gain Chordoma References 21215367 chr8 29303741 30176731 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 29408139 31196476 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 29409972 29410072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 29518391 29518464 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 29527099 29528559 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 29538452 31512382 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 29545526 29546079 Gain and loss Pancreatic cancer SNP array 17952125 chr8 29595171 29596171 Gain Renal cell carcinoma References 21215367 chr8 296089 1959830 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 29608968 29609053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 29625873 29626873 Loss Renal cell carcinoma References 21215367 chr8 29641114 29641414 Gain Renal cell carcinoma References 21215367 chr8 29677787 29677887 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 29694765 29694865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 29700000 38500000 Amplification Ductal carcinoma Array CGH 18381933 chr8 29700000 38500000 Amplification Normal - 22101487 chr8 29700000 38500000 Amplification Urothelial carcinoma CGH and FISH 18382360 chr8 29700000 38500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 29700000 38500000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr8 29700000 38500000 Copy number Squamous cell cancer aCGH 20885788 chr8 29700000 38500000 Deletion Colorectal cancer CGH 20709793 chr8 29700000 38500000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr8 29700000 38500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 29700000 38500000 Duplication Intellectual disability - 22045946 chr8 29700000 38500000 Gain Lung cancer Array CGH 17925434 chr8 29700000 38500000 Gain Prostate cancer Illumina 1M-Duo bead arrays 21965145 chr8 29700000 38500000 Nomal Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr8 29700000 39500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 29700000 45200000 Gain Breast cancer Array CGH 16608533 chr8 29757033 29757119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 29806303 29806403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 29817844 29847758 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 29879301 37646400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 29905663 29905747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 29955201 29959700 Deletion Glioma mate-paired sequence 20126413 chr8 29957081 29957827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 29960000 30730000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr8 30013376 30525448 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 30020873 30020966 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30040174 30060201 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30040184 30060191 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 30040184 30060191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30040184 30060191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30040971 30043044 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 30043198 30043834 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 30061264 30095696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 30067949 30170383 Gain Autism Exome sequencing and CGH 22495309 chr8 30072487 30085122 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 30072487 30085122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30072487 30085122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30072487 30085128 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30109001 30109990 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 30109001 30109990 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30109001 30109990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30115243 30123727 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 30123873 30169183 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 30130000 34140000 Loss Colorectal cancer ABI PRISM 7000 Sequence Detection System 16774939 chr8 30133355 30160601 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 30133355 30160601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30133355 30160601 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30133355 30160601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30191991 30192166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 30198404 30199404 Loss Renal cell carcinoma References 21215367 chr8 30226569 30227150 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30226569 30227204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30297511 32030300 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 30310774 30341618 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 30329519 30329628 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30329519 30329628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30343588 37210024 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 3035166 3035243 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 30361485 30549276 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr8 30361485 30549276 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 30361486 30549276 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 30361486 30549276 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30361486 30549276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30361585 30547815 Gain and loss Pancreatic cancer SNP array 17952125 chr8 304159 1524873 Loss Esophageal adenocarcinoma BAC array 19417022 chr8 304159 29507616 Loss Prostate cancer Array CGH 18632612 chr8 304159 38453623 Loss Prostate cancer Array CGH 18632612 chr8 304159 4386750 Loss Prostate cancer Array CGH 18632612 chr8 304160 484890 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 30511820 30512123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 305151 2310429 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 3053337 3053455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 30555573 30635274 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30555577 30635280 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30555577 30635280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30556394 37670512 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 30567360 97291094 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 30620748 30620861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30620748 30620862 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30620748 30620863 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30655126 30704894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30655126 30704894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30655977 30704985 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30697448 30759624 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 30703225 30703300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 30706725 30708274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30715846 30716433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 30719989 30720289 Loss Renal cell carcinoma References 21215367 chr8 30721232 30744064 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30721232 30744064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30721241 30744064 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30723757 30725971 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 30723757 30725971 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 30723896 30725134 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 30729590 30729690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 30762667 30789894 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 30762667 30789894 Gain or loss Breast cancer - 20668451 chr8 30762667 30789894 Gain or loss Cancer - 20668451 chr8 30762667 30789894 Gain or loss Lung cancer - 20668451 chr8 30762667 30789894 Gain or loss Ovarian cancer - 20668451 chr8 30762667 30789894 Gain or loss Pancreas cancer - 20668451 chr8 30762667 30789894 Gain or loss Prostate cancer - 20668451 chr8 30762679 30789859 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30762679 30789894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30762679 30789894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30800000 32700000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr8 30808604 30826075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30808604 30826075 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30808604 30826075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30860000 31240000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 chr8 30860000 31240000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 chr8 30890778 31031276 Loss Lung adenocarcinoma 244K Whole Human Genome microarrays 21151896 chr8 30899422 30900422 Loss Renal cell carcinoma References 21215367 chr8 30904457 30904566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 30928047 30928319 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 30949001 31088944 Amplification or deletion Cancer Array CGH 17440070 chr8 30954095 30954195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 30961395 30961471 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 30972863 31010773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 30972863 31010773 Gain and loss Pancreatic cancer SNP array 17952125 chr8 30972863 31010773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 30976360 30976460 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 30999327 30999427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31010319 31150819 Gain or loss Breast cancer - 20668451 chr8 31010319 31150819 Gain or loss Cancer - 20668451 chr8 31010319 31150819 Gain or loss Lung cancer - 20668451 chr8 31010319 31150819 Gain or loss Ovarian cancer - 20668451 chr8 31010319 31150819 Gain or loss Pancreas cancer - 20668451 chr8 31010319 31150819 Gain or loss Prostate cancer - 20668451 chr8 31010320 31150818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 31010320 31150818 Gain and loss Pancreatic cancer SNP array 17952125 chr8 31010320 31150818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 31138391 31139391 Loss Cancer Human 24 color M-FISH 21215367 chr8 31138391 31139391 Loss Chordoma References 21215367 chr8 31197070 31198028 Gain and loss Pancreatic cancer SNP array 17952125 chr8 31202641 31202734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31216264 31216364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31241454 31241644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31258209 31258309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31293388 32353989 LOH Normal High-resolution SNP genotyping 21211785 chr8 31294245 31294324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31295271 32063570 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 31296213 31296312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 313131 313191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31338113 31371627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 31389288 32073293 Amplification Breast cancer FISH 17142309 chr8 314452 317471 Gain Normal aCGH 21627829 chr8 31474868 31474940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31512382 33993894 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 31521664 31521764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31532327 31532427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31565847 31597328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 31575157 31575262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 31575158 31575261 Gain and loss Pancreatic cancer SNP array 17952125 chr8 31575173 31575262 Gain and loss Pancreatic cancer SNP array 17952125 chr8 315934 323174 Gain and loss Pancreatic cancer SNP array 17952125 chr8 315934 323174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 31614916 32931772 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr8 31616809 32741615 Deletion Intellectual disability 100k SNP Array 21811512 chr8 31616809 32741615 Gain or loss Breast cancer - 20668451 chr8 31616809 32741615 Gain or loss Cancer - 20668451 chr8 31616809 32741615 Gain or loss Lung cancer - 20668451 chr8 31616809 32741615 Gain or loss Ovarian cancer - 20668451 chr8 31616809 32741615 Gain or loss Pancreas cancer - 20668451 chr8 31616809 32741615 Gain or loss Prostate cancer - 20668451 chr8 31617043 32741561 Gain and loss Pancreatic cancer SNP array 17952125 chr8 31617043 32741608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 31617043 32741608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3168052 3169052 Gain Osteosarcoma References 21215367 chr8 3168947 3169160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 31690784 31691136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 31722271 31754432 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 3181067 3206809 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 31816236 31817236 Gain Chordoma References 21215367 chr8 31824417 31824717 Loss Chordoma References 21215367 chr8 31903051 31903351 Gain Chordoma References 21215367 chr8 31932144 31932244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 31982731 32651157 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 31992513 31992613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 32022550 32022650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3212983 3213063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 32146694 32417642 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 32146694 33108634 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 321550 341546 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 32165243 32165372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 32169125 32169209 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32169125 32169209 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32233554 32233660 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32233554 32233681 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32233554 32233681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32257425 32258425 Loss Chordoma References 21215367 chr8 32257845 32257948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32271772 32274534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 32283888 32283988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 323049 37152648 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr8 32309983 32782354 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 32474758 32474858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 325741 443957 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32597100 32706664 Deletion Breast cancer Illumina 1M duo array 20393555 chr8 32743185 32744926 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32748740 32881490 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 327542 376235 Loss Normal aCGH 21627829 chr8 32756235 32814875 Copy number Alcoholism Illumina Human Hap674W-Quad BeadChip 21790672 chr8 32756235 32814875 Copy number Normal - 21790672 chr8 32773134 32814260 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32773601 32822486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32775300 32776300 Loss Renal cell carcinoma References 21215367 chr8 32780745 32824999 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32782949 32783015 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32782949 32783015 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32789777 32821071 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32790211 32812497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32792370 32823318 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32796742 32829181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32797601 32812800 Deletion Glioma mate-paired sequence 20126413 chr8 32797783 32812243 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32798653 32812197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 32798769 32811768 Deletion Normal TaqMan assays 20972442 chr8 32799501 32811000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 32799548 32810803 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 32802640 32807955 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 32802640 32807955 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 32803799 32803881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 32888553 32888636 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32888553 32888658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32897185 33042060 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 32984007 32984107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 32988506 32988576 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32988506 32988576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32989476 32989544 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32989476 32989544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32991072 32991138 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32991072 32991138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32992089 32992155 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32992089 32992155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32992188 32992250 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32992188 32992250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32992261 32992324 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32992261 32992324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32994108 32994175 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32994108 32994175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32994185 32994245 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32994185 32994245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 32994251 32994317 Gain and loss Pancreatic cancer SNP array 17952125 chr8 32994251 32994317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33067656 33067756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 33071944 36476517 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 33142689 33142789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 33202201 33202301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 33278323 33279918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 33301704 33346328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 33315924 33316010 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33315924 33316010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33347884 33450206 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 33347884 33450206 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 33347884 33450206 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33347890 33450206 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33421011 33421043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 33435501 33641500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 33447354 33447654 Loss Renal cell carcinoma References 21215367 chr8 33462247 33478317 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 33462247 33478319 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33462259 33478317 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 33462259 33478317 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 334689 334789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 33475780 33490198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33476023 33490198 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33476025 33490095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 33482473 33527785 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 33490535 33490638 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33511282 33511343 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 33517071 33517197 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33517105 33517197 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33524815 33544185 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 33524815 33544185 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 33524815 33544185 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33524815 33544185 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33524958 37151425 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr8 3354213 3355213 Gain Renal cell carcinoma References 21215367 chr8 3354276 3386846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 33557267 33557568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33557270 33557568 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33557270 33557568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33568398 33577043 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 33568398 33577043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 33568398 33577043 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33568398 33577043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33599038 34758419 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 33617888 33618998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33623983 33649641 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 33627428 33627528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 33646395 33647395 Loss Renal cell carcinoma References 21215367 chr8 33651476 33651551 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 33652579 35097722 LOH Normal High-resolution SNP genotyping 21211785 chr8 33652579 35126010 LOH Normal High-resolution SNP genotyping 21211785 chr8 33655579 35020125 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 33692844 33693122 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33692844 33693128 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33699231 33699331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3380667 3381667 Loss Chordoma References 21215367 chr8 33809322 35074129 LOH Normal High-resolution SNP genotyping 21211785 chr8 33907733 33947007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 33914891 35435434 LOH Normal High-resolution SNP genotyping 21211785 chr8 33922137 35435434 LOH Normal High-resolution SNP genotyping 21211785 chr8 33946621 33946938 Gain and loss Pancreatic cancer SNP array 17952125 chr8 33964222 33965222 Loss Renal cell carcinoma References 21215367 chr8 33984545 34181218 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 3400925 4000623 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr8 3401908 3402057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3402262 3403262 Loss Renal cell carcinoma References 21215367 chr8 34061389 34061489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34089229 34090229 Gain Renal cell carcinoma References 21215367 chr8 34110000 146240000 Gain Breast cancer aCGH 21509527 chr8 34110000 38390000 Amplification Breast cancer aCGH 21509527 chr8 34129345 34446325 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 34142067 34142347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 34198369 34198582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34198585 34198693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34275884 35121854 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 34285970 34286037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 34299692 34300702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 34299692 34300702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 34300055 34300714 Gain and loss Pancreatic cancer SNP array 17952125 chr8 34383397 34383486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3440295 3469284 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 34413748 34413848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34432944 34433044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34433571 34478666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 34457964 34458064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34462702 34509591 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 34471879 34930924 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 34479555 34479927 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 34481632 43787459 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr8 34487708 34491958 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 34490808 34490902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34505251 34507000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 345060 111175147 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr8 34538449 34538549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34545731 34545794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 34562521 34562602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 34618831 34618915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34648964 34649964 Gain Renal cell carcinoma References 21215367 chr8 34658541 34784029 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 34662576 34662676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 346808 409871 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 346808 409871 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 346808 409873 Gain and loss Pancreatic cancer SNP array 17952125 chr8 34697328 34697428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3473177 3473297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 34789186 34833638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 3480000 3580000 Loss Acute lymphoblastic leukemia - 21339820 chr8 3483482 4135264 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 34851284 34851695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 34851316 34851695 Gain and loss Pancreatic cancer SNP array 17952125 chr8 3488498 3488530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34905751 34927810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 34922784 34922884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34947055 36342031 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 34955148 34955233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 34960806 34960906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35009528 36133366 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 35025549 35025642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35066926 35066999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 35068813 35069039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35068960 35069034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35069021 35069255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35069022 35069123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35098187 43820269 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 35162052 35162152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3518108 3520997 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 35194561 35483073 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 35195609 35703052 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-608K arrays 21546498 chr8 35212845 35771722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 35212845 35771722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 35248759 35248817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 35295436 35323852 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 35317536 35317625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3535435 7158508 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 35400272 37835460 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 3545422 3545501 Gain and loss Pancreatic cancer SNP array 17952125 chr8 3545422 3545501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3545422 3545528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3550198 3550298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35502236 35502823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 35502236 35502823 Gain and loss Pancreatic cancer SNP array 17952125 chr8 35502236 35502823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 35515329 35519626 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 35521452 35771722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 35521452 35771722 Gain and loss Pancreatic cancer SNP array 17952125 chr8 35534179 35815353 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 3559600 3604119 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 35632820 35645402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 35655375 35688891 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 35687984 35688162 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 3570249 3604086 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 3571679 3575172 Deletion Normal Standard GISTIC 21527027 chr8 35753168 35753268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35770844 35771113 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 35776006 35776106 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35813728 36194697 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 35832972 35833972 Loss Renal cell carcinoma References 21215367 chr8 3583877 3584877 Gain Osteosarcoma References 21215367 chr8 3586932 5909600 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr8 3586932 5909600 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 35906968 35907008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 35909838 35909938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3592601 3668500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 35945668 35946668 Gain Chordoma References 21215367 chr8 35956663 35957663 Loss Chordoma References 21215367 chr8 3603627 3604627 Loss Osteosarcoma References 21215367 chr8 36046377 36046421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36069934 36070934 Gain Chordoma References 21215367 chr8 36122902 36123902 Loss Chordoma References 21215367 chr8 36129644 36129701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 36143200 36143295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36155250 36725290 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chr8 36156815 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 36164852 36207506 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 36193282 36199569 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 36193282 36199569 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 36194697 36197883 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 3619623 3619722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36197883 36497057 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 36254671 36254738 Gain and loss Pancreatic cancer SNP array 17952125 chr8 36254671 36254738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 36254741 36254806 Gain and loss Pancreatic cancer SNP array 17952125 chr8 36254741 36254806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 36255951 36256019 Gain and loss Pancreatic cancer SNP array 17952125 chr8 36255951 36256019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3626753 3626950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3626964 3627148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36286639 36286748 Gain and loss Pancreatic cancer SNP array 17952125 chr8 36286642 36286748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 36300000 42700000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr8 36310472 36355107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 36333000 124787000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr8 36360314 36361314 Gain Chordoma References 21215367 chr8 36361896 36362896 Gain Renal cell carcinoma References 21215367 chr8 36363040 36364040 Loss Chordoma References 21215367 chr8 36363987 36364087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36386 103368 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 36386 209022 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 36392789 36398779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 36443779 36444105 Gain and loss Pancreatic cancer SNP array 17952125 chr8 36446115 36447115 Gain Renal cell carcinoma References 21215367 chr8 36452678 39744917 Amplification Breast cancer Array CGH 16620391 chr8 36481039 39128088 Deletion Adrenocortical carcinoma Agilent 44K Human Genome Array CGH 18281524 chr8 36489145 36491021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 36500000 45600000 Amplification Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 chr8 36526804 36571899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 36529146 37472939 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 36529146 37472939 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 36531355 36531455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36632651 37388263 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 36638511 41863251 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 36684863 38923786 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 3671798 3672798 Gain Chordoma References 21215367 chr8 36724679 36724779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36741121 36741179 Gain and loss Pancreatic cancer SNP array 17952125 chr8 36741121 36741227 Gain and loss Pancreatic cancer SNP array 17952125 chr8 36741121 36741227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3674807 3771595 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 36748431 36748526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36780592 36912799 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 36780592 36912799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 36828608 36828708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36835817 38453532 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr8 3685593 3686593 Gain Osteosarcoma References 21215367 chr8 36865155 36865986 Gain and loss Pancreatic cancer SNP array 17952125 chr8 36865158 36865986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 36865158 36865986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3687491 5908007 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr8 36895599 36895684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36943 35450036 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr8 36965908 36966008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36978364 37023188 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 36978728 36978828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36986165 36986265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36986257 36986357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 36996622 36996692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37102716 37138450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 37103136 37104136 Loss Renal cell carcinoma References 21215367 chr8 3710365 3710447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37111077 37141805 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 37167901 37173000 Deletion Glioma mate-paired sequence 20126413 chr8 37170038 37171011 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 37205039 38123131 LOH Normal High-resolution SNP genotyping 21211785 chr8 37225687 37225787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37240663 37286146 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 37247912 37248485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 37276877 37276977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37281338 41353607 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 37328458 49037364 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 37336827 37336927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37470450 38607467 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-599K arrays 21546498 chr8 37470510 37470610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37483934 37518440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 37509045 37514745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 37519935 37520035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37521444 37521538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37539473 38822619 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-594K arrays 21546498 chr8 37553368 37553437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3757915 3782652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 37639532 38523156 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 37645574 37645661 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37645574 37645661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37645574 37645681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37646401 38962000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 3765084 3789724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 37655817 38111519 Amplification Breast cancer FISH 17142309 chr8 37671501 37678000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 37672458 37675554 Gain or loss Breast cancer - 20668451 chr8 37672458 37675554 Gain or loss Cancer - 20668451 chr8 37672458 37675554 Gain or loss Lung cancer - 20668451 chr8 37672458 37675554 Gain or loss Ovarian cancer - 20668451 chr8 37672458 37675554 Gain or loss Pancreas cancer - 20668451 chr8 37672458 37675554 Gain or loss Prostate cancer - 20668451 chr8 37672465 37675554 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37672467 37675554 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 37672467 37675554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 37672467 37675554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37701397 37707431 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 37709604 38566506 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 37711437 37714102 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 37711437 37714102 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37711437 37714102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37713255 37734474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 37713255 37734474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37713269 37731979 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37713307 37734476 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 3771595 3774467 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 3771701 3780000 Deletion Glioma mate-paired sequence 20126413 chr8 37724012 37724680 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37724012 37724680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3772948 3778222 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 3772948 3778222 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 3773422 3778155 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 37738832 37756444 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 37738832 37756444 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 37738833 37756443 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 37738833 37756443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 37738833 37756443 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37738833 37756443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3773951 3780096 Loss Autism qPCR 20531469 chr8 3774178 5091426 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 3774467 3774468 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 3774468 3777514 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 37754316 37754386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37760501 37820000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 37773582 37820652 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37773932 37820648 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 37773932 37820648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 37773932 37820648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37781847 37782147 Gain Renal cell carcinoma References 21215367 chr8 37820563 37826569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 37820563 37826569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37820563 37826580 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 37820563 37826580 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37835627 37876161 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 37835628 37876161 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 37835628 37876161 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 37835628 37876161 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37835628 37876161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37842469 37842569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37847079 38374079 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr8 37881844 37908396 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 37885410 37885711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37885418 37885713 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37885418 37885713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37887176 37887276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 37910962 37916804 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 37910962 37916804 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 37910962 37916804 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37910962 37916804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37921420 37922420 Gain Chordoma References 21215367 chr8 37921782 37922782 Loss Chordoma References 21215367 chr8 37922786 37923786 Loss Renal cell carcinoma References 21215367 chr8 37939672 37943341 Gain or loss Breast cancer - 20668451 chr8 37939672 37943341 Gain or loss Cancer - 20668451 chr8 37939672 37943341 Gain or loss Lung cancer - 20668451 chr8 37939672 37943341 Gain or loss Ovarian cancer - 20668451 chr8 37939672 37943341 Gain or loss Pancreas cancer - 20668451 chr8 37939672 37943341 Gain or loss Prostate cancer - 20668451 chr8 37939673 37943341 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 37939673 37943341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 37939673 37943341 Gain and loss Pancreatic cancer SNP array 17952125 chr8 37939673 37943341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 37943155 37944155 Gain Chordoma References 21215367 chr8 37963348 37997228 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 38007176 38037040 Gain or loss Breast cancer - 20668451 chr8 38007176 38037040 Gain or loss Cancer - 20668451 chr8 38007176 38037040 Gain or loss Lung cancer - 20668451 chr8 38007176 38037040 Gain or loss Ovarian cancer - 20668451 chr8 38007176 38037040 Gain or loss Pancreas cancer - 20668451 chr8 38007176 38037040 Gain or loss Prostate cancer - 20668451 chr8 38007177 38037036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38007177 38037036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38007177 38037036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38007185 38037033 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38010000 38254000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 chr8 38010000 38254000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 chr8 3803529 4359593 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 38082215 38116377 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38082223 38116351 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38082223 38116351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38082223 38116351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38099049 38099155 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38099049 38099155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38119383 38127757 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38119383 38127757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38119383 38127757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38120327 38127619 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38124497 38126738 Amplification Breast cancer Array CGH 18757432 chr8 38132560 38239790 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 38140018 38153183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38140018 38153183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38140018 38153183 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38140018 38153183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38142687 38142793 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38142687 38142793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38153469 38189966 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38153469 38189966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38153469 38189966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38153469 38189968 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38183042 40742585 Gain Prostate cancer Array CGH 18632612 chr8 38191684 38257136 Amplification or deletion Cancer Array CGH 17440070 chr8 38208264 38239436 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38208264 38239436 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38208264 38239436 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38208628 38239436 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38225177 38316548 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 38227281 38404631 Loss Barrett's syndrome BAC array 19417022 chr8 38231999 38245872 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38231999 38245895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38231999 38245895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38239813 38245872 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38244838 38245838 Loss Renal cell carcinoma References 21215367 chr8 38251705 38358947 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38251717 38358947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38251717 38358947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38251717 38358947 Gain or loss Breast cancer - 20668451 chr8 38251717 38358947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38251717 38358947 Gain or loss Cancer - 20668451 chr8 38251717 38358947 Gain or loss Lung cancer - 20668451 chr8 38251717 38358947 Gain or loss Ovarian cancer - 20668451 chr8 38251717 38358947 Gain or loss Pancreas cancer - 20668451 chr8 38251717 38358947 Gain or loss Prostate cancer - 20668451 chr8 38252951 38460772 Amplification Cancer Affymetrix 250K Sty array 20164920 chr8 38268656 38326352 Amplification Breast cancer Affymetrix U133A gene chips 20024612 chr8 38279166 38315052 Gain Esophageal adenocarcinoma MLPA 18820669 chr8 38279166 38315052 Gain Pleomorphic adenoma spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr8 38291360 38296579 Amplification or deletion Cancer Array CGH 17440070 chr8 38363176 38385218 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 38363177 38385218 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38363177 38385218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38363177 38385218 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38363177 38385218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38364631 40491994 Deletion Glioblastoma multiforme 244K oligo array 21138945 chr8 38380000 38730000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 chr8 38380000 38730000 Highcopy numberlevel gain Cancer 500K single nucleotide polymorphism arrays 17699850 chr8 38387812 38445509 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 38387812 38445509 Deletioneted Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 38387812 38445509 Gain or loss Breast cancer - 20668451 chr8 38387812 38445509 Gain or loss Cancer - 20668451 chr8 38387812 38445509 Gain or loss Lung cancer - 20668451 chr8 38387812 38445509 Gain or loss Ovarian cancer - 20668451 chr8 38387812 38445509 Gain or loss Pancreas cancer - 20668451 chr8 38387812 38445509 Gain or loss Prostate cancer - 20668451 chr8 38387812 38445509 Neutral Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 38387812 38445509 Neutra Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 38387813 38445509 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38387813 38445509 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38387813 38445509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38388390 38388707 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38389402 38445297 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38417000 39171000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr8 3842829 3877029 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38434495 38957611 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 38471875 38487158 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 38487509 38505337 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38487509 38505337 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38487509 38505337 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38487509 38505337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38500000 39500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 38500000 39500000 Loss Prader-willi syndrome SignatureChip OS2.0 manufactured for Signature Genomic Laboratories 20588305 chr8 38500000 39900000 Deletion Normal - 21851588 chr8 38500000 39900000 Duplication Normal - 21851588 chr8 38500000 43200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 38508077 38508177 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38554949 38555049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38577287 38577836 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38577287 38577836 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38577287 38577836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38648427 40616135 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 38687783 38688083 Gain Renal cell carcinoma References 21215367 chr8 38689289 38689339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38703881 47655281 Triplication Acute myeloid leukemia - 21251322 chr8 38705164 38829703 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 38706355 38706455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38708000 38709000 Gain Chordoma References 21215367 chr8 3871095 3871195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38720695 38720804 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38720695 38720806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38733914 38829702 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38734008 38829702 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38734008 38829702 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38734008 38829702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38759483 145205212 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr8 38761149 38762149 Loss Chordoma References 21215367 chr8 38761159 38762159 Gain Chordoma References 21215367 chr8 38761237 38762237 Gain Chordoma References 21215367 chr8 38777338 38777413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38800233 38901784 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 38863892 38864078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38863966 38864074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38864059 38864265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38865170 38870884 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 38877909 38950587 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 38877910 38950585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38877910 38950585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38877986 38945341 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38877986 38946459 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38923786 38959748 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 38950854 38964801 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38950862 38964868 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38950862 38964868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38950862 38964868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38953022 38953092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38959312 38959379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 38965484 38973198 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38965484 38973198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38965484 38973198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38967481 38973193 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38967897 38972183 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 38973661 39081936 Amplification Adenocarcinoma FISH 19001599 chr8 38973661 39081936 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 38973661 39081936 Amplification Non-small cell lung cancer FISH 19001599 chr8 38973661 39081936 Amplification Squamous cell cancer FISH 19001599 chr8 38973661 39081936 Deletion Cone-rod dystrophy References 22138850 chr8 38973662 39081677 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38973662 39081934 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 38973662 39081934 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 38973662 39081934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 38995291 38995359 Gain and loss Pancreatic cancer SNP array 17952125 chr8 38995291 38995359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 3899600 23478900 Loss Prostate cancer Array CGH 18632612 chr8 39003333 39423310 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 39008109 41238710 Deletion Cancer Affymetrix 250K Sty array 20164920 chr8 39016067 39017067 Loss Chordoma References 21215367 chr8 39021151 39021251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39025676 39026676 Loss Renal cell carcinoma References 21215367 chr8 39051569 39051617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39072777 39073035 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 39078465 39111039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 39084207 39261592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 39084207 39261592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39084319 39261592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 39086562 39735867 LOH Normal High-resolution SNP genotyping 21211785 chr8 39126706 39126806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39127540 39127638 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 39148870 39693785 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 chr8 39282846 39394052 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 39282846 39394052 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 39282846 39394052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39283004 39287856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 39291267 39394052 Gain and loss Pancreatic cancer SNP array 17952125 chr8 39291338 39379532 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr8 39311333 39312333 Gain Chordoma References 21215367 chr8 39316420 39358375 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 39341029 39341370 Loss Normal 244K array 17666407 chr8 39344885 39480834 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39344885 39498812 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39345036 39508331 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr8 39345188 39504339 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39345200 39506122 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 39345232 39510046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 39345494 39504339 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39345494 39506110 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39345494 39507444 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39348207 39506566 P11.22 Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 39348859 39508802 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 39349328 39482091 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39349328 39489619 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39349328 39504339 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39349328 39504339 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39349328 39506110 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39349328 39506110 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39349328 39507444 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39349328 39508269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39349328 39508269 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39349328 39516889 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39349329 39953975 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 39349340 39354759 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 39349340 39506122 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 39349470 39504339 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39349470 39504339 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39349470 39507444 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39349482 39506122 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 39349482 39508281 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 39349501 39508100 Deletion Glioma mate-paired sequence 20126413 chr8 39349728 39503902 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 39349728 39505377 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 39349728 39505377 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 39349728 39507856 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 39349728 39507856 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 39349728 39507856 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 39349728 39507856 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 39349728 39517193 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 39349728 39520632 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 39349728 40108645 LOH Normal High-resolution SNP genotyping 21211785 chr8 39349728 40117635 LOH Normal High-resolution SNP genotyping 21211785 chr8 39349804 39482091 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39349804 39506110 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39349804 39506110 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39349804 39507444 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39349805 39507443 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 39350819 39506576 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 39351232 39506384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 39351386 39507955 Loss Normal 244K array 17666407 chr8 39351896 39499553 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 39354748 39407919 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39443619 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39462094 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354748 39488053 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39488053 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354748 39498812 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354748 39503269 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39503269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354748 39503269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39504339 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 39354748 39504339 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39504339 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354748 39506110 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 39354748 39506110 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39506110 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354748 39506110 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39506110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39507444 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39507444 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354748 39507444 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39507924 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39507924 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39508174 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39508269 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39508269 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354748 39508269 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39514254 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39354748 39516889 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39523149 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39354748 39524859 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39354759 39354760 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 39354760 39365832 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 39354760 39506122 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 39354760 39506122 Deletion Cancer Affymetrix Genome-Wide Human SNP Array 6.0 21249187 chr8 39354760 39506122 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 39355908 39507856 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 39355908 39507856 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 39355908 39507856 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 39356395 39499952 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 chr8 39356395 39505456 Deletion Normal - 21259039 chr8 39356595 39369686 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 39356595 39499752 Duplication Rett syndrome References 21593744 chr8 39356595 39499811 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr8 39356595 39505256 Insert Cancer ultra-high resolution array CGH 21272361 chr8 39358375 39507856 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 39358375 39507856 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 39364955 39524881 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 39364955 39524881 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 39364955 39716796 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 39364955 39716796 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 39365820 39503269 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39365820 39504339 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39365820 39506110 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39365820 39506110 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39365820 39507444 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39365832 39443631 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 39366256 39407919 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39366256 39506110 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39366256 39506110 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39366256 39507444 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 39367887 39508160 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39370129 39506122 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 39375646 39506110 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39375646 39507444 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 39377851 39505456 Gain Bladder cancer array-CGH 21909424 chr8 39378051 39505315 Loss Bladder cancer array-CGH 21909424 chr8 39378080 39464606 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr8 3939631 3940631 Gain Osteosarcoma References 21215367 chr8 39417993 39462094 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39417993 39503269 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39417993 39506110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39427721 39499495 Gain and loss Pancreatic cancer SNP array 17952125 chr8 39427724 39499522 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 39427724 39499522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39443631 39506122 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 3944372 3949289 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 39475900 39506110 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 39500000 43200000 Loss Chronic lymphocytic leukemia ligonucleotide microarray analysis (ROMA) 18922857 chr8 39506122 39507456 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 39507456 39507936 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 39507846 39563631 Loss Normal 244K array 17666407 chr8 39507856 40101388 LOH Normal High-resolution SNP genotyping 21211785 chr8 39507856 40108645 LOH Normal High-resolution SNP genotyping 21211785 chr8 39507856 40117635 LOH Normal High-resolution SNP genotyping 21211785 chr8 39507936 39508281 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 39514037 39797061 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr8 39522 107847500 Gain Thoracic aortic aneurysm ABI 7900 real-time PCR system 21092924 chr8 39523051 39870727 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 39528683 39528783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39537613 39537703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39561257 39706740 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 39561257 39706740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 39561257 39706740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39561299 39706638 Gain and loss Pancreatic cancer SNP array 17952125 chr8 39579937 146263538 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 39615193 39615193 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr8 39630811 39631188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 39664882 39664982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39700000 43100000 Copy number Medulloblastoma high-resolution SNP genotyping 19270706 chr8 39700322 39700471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39700372 39700472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39700480 39700580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39720414 39814932 Gain and loss Pancreatic cancer SNP array 17952125 chr8 39720414 39814936 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 39720414 39814936 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 39720414 39814936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39722221 41056808 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 39732758 39732864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39738317 40075852 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 39740184 39740484 Loss Chordoma References 21215367 chr8 39771601 41365500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 39819357 39819433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 3982290 3982747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 39831688 39832711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 3984343 3991891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 3984382 3991999 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr8 3984382 3991999 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr8 39856438 39856667 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 39862703 39862792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39877975 39992705 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 39884472 39884803 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 39890485 39905095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 39890485 39905095 Gain and loss Pancreatic cancer SNP array 17952125 chr8 39890485 39905095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39890545 39905120 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 39900000 43200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 39900000 43200000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr8 39900000 43200000 Gain Breast cancer aCGH 21045282 chr8 39900000 43200000 Gain Lung cancer Array CGH 17925434 chr8 39900000 48100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 39902891 39902991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 39911631 39993067 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 39911631 39993067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 39911631 39993067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 39911873 39961672 Gain and loss Pancreatic cancer SNP array 17952125 chr8 39941789 39941889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40000344 40068118 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 40004834 40009568 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 40019721 40019821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40025625 40026625 Loss Chordoma References 21215367 chr8 40056041 40056113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40069560 40069660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40074409 40140063 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 40074866 40846601 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 40076675 40876632 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chr8 40095219 40095308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 4010104 4032278 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 40123888 116672278 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 40130144 40131599 Gain and loss Pancreatic cancer SNP array 17952125 chr8 40130145 40131978 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 40130146 40131978 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 40130146 40131978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 40130146 40131978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 40132030 40133030 Loss Renal cell carcinoma References 21215367 chr8 40132094 40637663 LOH Normal High-resolution SNP genotyping 21211785 chr8 40152467 40152562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40175132 40176132 Loss Renal cell carcinoma References 21215367 chr8 40178261 40179261 Loss Renal cell carcinoma References 21215367 chr8 40275861 40326682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 40298630 40311673 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 40301136 40313573 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 40301941 40309124 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 40302010 40308975 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 40302011 40308971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 40302954 40308668 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 40303293 40308656 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 40339604 40340604 Loss Renal cell carcinoma References 21215367 chr8 40343657 40344657 Gain Renal cell carcinoma References 21215367 chr8 40344813 40345813 Gain Renal cell carcinoma References 21215367 chr8 40355992 40356992 Gain Renal cell carcinoma References 21215367 chr8 40358521 40358606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4036835 4258540 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr8 40404420 42684740 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 40472275 42187861 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 40476778 40476834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4048334 4058846 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 40494959 40495259 Loss Renal cell carcinoma References 21215367 chr8 40507270 40874500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 40507270 40874500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 40539634 40874500 Gain and loss Pancreatic cancer SNP array 17952125 chr8 40540106 40541106 Gain Renal cell carcinoma References 21215367 chr8 40560906 40575649 Gain Normal 244K array 17666407 chr8 40578226 40578366 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 40588891 40589538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 40588901 40589445 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 40588917 40590960 Loss Normal 244K array 17666407 chr8 40593623 40593786 Gain Normal 244K array 17666407 chr8 40648225 42902832 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 40699361 40699461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40719925 40720925 Gain Renal cell carcinoma References 21215367 chr8 40720418 40721418 Gain Renal cell carcinoma References 21215367 chr8 40721876 40722876 Loss Renal cell carcinoma References 21215367 chr8 40725793 40725825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40732209 40732509 Gain Chordoma References 21215367 chr8 4073497 4073597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4074526 4120563 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 4078057 47043375 Deletion Esophageal cancer affymetrix genechip human mapping 271K Nsp arrays 21851588 chr8 40790155 40790214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40833905 40833980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 40882037 40907073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 40887947 40901780 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 40888384 40903429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 40890499 40905197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 40891801 40900700 Deletion Glioma mate-paired sequence 20126413 chr8 40892769 40899768 Deletion Normal TaqMan assays 20972442 chr8 40893601 40899521 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 40893601 40899521 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 40893780 40898935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 4092991 4116802 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 4092991 4117771 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 41009568 41009674 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41009568 41009674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 4108301 4114300 Deletion Glioma mate-paired sequence 20126413 chr8 4110274 4112325 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 4110290 4112364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 41114468 41585694 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 41119475 41166989 Amplification Prostate cancer aCGH 22341455 chr8 41119475 41166990 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 chr8 41119475 41166990 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 41124362 41830873 LOH Normal High-resolution SNP genotyping 21211785 chr8 41147543 41147643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41162655 41162755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41196333 41196433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41200000 47100000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 chr8 41238633 41286147 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 41238634 41286137 Gain or loss Breast cancer - 20668451 chr8 41238634 41286137 Gain or loss Cancer - 20668451 chr8 41238634 41286137 Gain or loss Lung cancer - 20668451 chr8 41238634 41286137 Gain or loss Ovarian cancer - 20668451 chr8 41238634 41286137 Gain or loss Pancreas cancer - 20668451 chr8 41238634 41286137 Gain or loss Prostate cancer - 20668451 chr8 41238640 41286149 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 41238640 41286149 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41238640 41286149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41240377 41347615 Loss Normal 244K array 17666407 chr8 41252177 41253177 Gain Renal cell carcinoma References 21215367 chr8 41270457 41270709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41270470 41270570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41274835 41274941 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41274839 41274941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41281983 42118957 LOH Normal High-resolution SNP genotyping 21211785 chr8 413156 413743 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 41348080 41368498 Amplification Prostate cancer aCGH 22341455 chr8 41348081 41368497 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 4135264 5304517 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 41364524 41364624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41365501 43490700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 41377406 42269519 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 41378046 41379046 Gain Renal cell carcinoma References 21215367 chr8 41378099 41379099 Gain Renal cell carcinoma References 21215367 chr8 4138142 4176308 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 41381707 41382707 Loss Renal cell carcinoma References 21215367 chr8 41382086 41383086 Loss Renal cell carcinoma References 21215367 chr8 41386724 41402564 Amplification Prostate cancer aCGH 22341455 chr8 41398486 41398808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 41413989 42624653 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr8 4142681 4142781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41435706 41482519 Amplification Prostate cancer aCGH 22341455 chr8 41447457 41447557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41455693 41456693 Loss Renal cell carcinoma References 21215367 chr8 41467237 41487656 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 41467237 41487656 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 41467238 41487650 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 41467238 41487650 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41467238 41487650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41468490 146268947 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr8 41480000 42480000 Gain Ductal carcinoma SNP array 22052326 chr8 41487898 41488584 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41503828 41504877 Amplification Prostate cancer aCGH 22341455 chr8 41505881 41521720 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 41505902 41519059 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 41505925 41521427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 41505925 41521427 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41505925 41521427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41510743 41754279 Amplification Prostate cancer aCGH 22341455 chr8 41517958 41518025 Amplification Prostate cancer aCGH 22341455 chr8 41520000 43320000 Amplification Sezary syndrome Array-based CGH 18413736 chr8 41531133 41532133 Loss Cancer Human 24 color M-FISH 21215367 chr8 41531133 41532133 Loss Renal cell carcinoma References 21215367 chr8 41554876 41597971 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41554876 41598588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 41554876 41598588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41597501 41624000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 41622986 41624035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 41622986 41624035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41623125 41624031 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41623728 41623888 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr8 41624001 41627500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 41627501 41886000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 41629901 41774297 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41629901 41873155 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 41629901 41873155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41629902 41873155 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 41637116 41637183 Amplification Acute myeloid leukemia BAC aCGH 20962326 chr8 41637116 41637183 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41637116 41637183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 4164373 4915451 LOH Normal High-resolution SNP genotyping 21211785 chr8 41666828 42443527 LOH Normal High-resolution SNP genotyping 21211785 chr8 4167645 4168645 Loss Osteosarcoma References 21215367 chr8 41698217 41698517 Loss Renal cell carcinoma References 21215367 chr8 41702899 41702957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41713098 41713198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41726004 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 41731783 41731883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41755853 41756853 Loss Renal cell carcinoma References 21215367 chr8 41780024 41780123 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41780024 41780125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41787159 41788159 Loss Renal cell carcinoma References 21215367 chr8 41788867 41789867 Loss Renal cell carcinoma References 21215367 chr8 41791895 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 41800000 84900000 Gain primary effusion lymphomas CGH 17116491 chr8 41800000 93500000 Gain Esophageal cancer Affymetrix U133A 2.0 chip 20955586 chr8 41800000 93500000 Gain Multiple myeloma CGH, FISH 16461302 chr8 41800000 93500000 Increases Breast cancer Fluorescence in situ hybridization (FISH) and immunohistochemistry 20814816 chr8 41800000 93500000 Loss Esophageal cancer Affymetrix U133A 2.0 chip 20955586 chr8 41816736 41817020 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41816736 41817020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41816737 41817014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 4182635 4182916 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr8 41839192 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 41843392 41844392 Gain Renal cell carcinoma References 21215367 chr8 41844529 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 41844665 41845665 Loss Renal cell carcinoma References 21215367 chr8 41849557 41850557 Loss Renal cell carcinoma References 21215367 chr8 41850160 41851160 Loss Renal cell carcinoma References 21215367 chr8 41850993 41851993 Gain Renal cell carcinoma References 21215367 chr8 4185662 4185762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 41870456 61366755 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 41885692 41886692 Gain Renal cell carcinoma References 21215367 chr8 41886487 41887487 Loss Renal cell carcinoma References 21215367 chr8 41892659 41893659 Loss Renal cell carcinoma References 21215367 chr8 41893298 41894298 Gain Renal cell carcinoma References 21215367 chr8 41906154 42028662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 41906154 42028662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 41907430 42028635 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 41907430 42028635 Gain and loss Pancreatic cancer SNP array 17952125 chr8 41969551 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 42000375 42642149 LOH Normal High-resolution SNP genotyping 21211785 chr8 42004277 42222479 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 42006632 42404492 Amplification Cancer Affymetrix 250K Sty array 20164920 chr8 42026578 42642149 LOH Normal High-resolution SNP genotyping 21211785 chr8 42026578 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 42049406 42049720 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 42069647 42114305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 4209458 4209797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 42129620 42147858 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 42129748 42147857 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42129748 42147858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42129748 42147858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42151392 42184351 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr8 42151393 42184351 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42151393 42184351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42151912 42184351 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42157472 42157558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 42175206 42281148 Copy number Intracranial arachnoid cysts Affymetrix Genome Wide Human SNP array 6.0 20187927 chr8 42177546 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 42221094 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 42247985 42309122 Copy number Lung cancer - 20668451 chr8 42247985 42309122 Gain or loss Breast cancer - 20668451 chr8 42247985 42309122 Gain or loss Cancer - 20668451 chr8 42247985 42309122 Gain or loss Lung cancer - 20668451 chr8 42247985 42309122 Gain or loss Ovarian cancer - 20668451 chr8 42247985 42309122 Gain or loss Pancreas cancer - 20668451 chr8 42247985 42309122 Gain or loss Prostate cancer - 20668451 chr8 42247986 42309122 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42247986 42309122 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42247986 42309122 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42264147 42277430 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 42264607 42277591 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 42275666 42319254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 42277059 49376463 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 42277205 43580654 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 42283888 42315413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 42287472 42287518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 42294853 42315108 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 42304473 42304783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 42307601 42315200 Deletion Glioma mate-paired sequence 20126413 chr8 4230863 4755808 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 42308769 42314768 Deletion Normal TaqMan assays 20972442 chr8 42309501 42313500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 42309588 42313560 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 42309589 42313551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 42309596 42310074 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 42315166 42348482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42315166 42348482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42315186 42348470 Gain or loss Breast cancer - 20668451 chr8 42315186 42348470 Gain or loss Cancer - 20668451 chr8 42315186 42348470 Gain or loss Lung cancer - 20668451 chr8 42315186 42348470 Gain or loss Ovarian cancer - 20668451 chr8 42315186 42348470 Gain or loss Pancreas cancer - 20668451 chr8 42315186 42348470 Gain or loss Prostate cancer - 20668451 chr8 42315187 42348470 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42350742 42353831 Gain or loss Breast cancer - 20668451 chr8 42350742 42353831 Gain or loss Cancer - 20668451 chr8 42350742 42353831 Gain or loss Lung cancer - 20668451 chr8 42350742 42353831 Gain or loss Ovarian cancer - 20668451 chr8 42350742 42353831 Gain or loss Pancreas cancer - 20668451 chr8 42350742 42353831 Gain or loss Prostate cancer - 20668451 chr8 42350744 42353832 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42350744 42353832 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42350744 42353832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42368547 42382568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42368547 42382568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42368547 42382570 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42393154 42516225 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42393173 42516225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42393173 42516225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42400093 42400193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 42436126 42436426 Gain Renal cell carcinoma References 21215367 chr8 42470922 42502299 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 42495902 42496902 Gain Renal cell carcinoma References 21215367 chr8 42496414 42560979 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 42500000 146274826 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr8 42502113 42560979 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 42515913 42527272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42515913 42527272 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42515913 42527272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42555739 42556039 Loss Renal cell carcinoma References 21215367 chr8 42582092 42582092 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 chr8 42582092 42582092 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr8 42587440 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 42592291 43820269 Duplication Chronic lymphocytic leukemia Affymetrix GeneChip Mapping NspI-250K arrays 20421269 chr8 42592291 43820269 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-600K arrays 21546498 chr8 42604697 43618302 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 42637553 42638553 Gain Renal cell carcinoma References 21215367 chr8 42671719 42711366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42671719 42711366 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42671719 42711366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42681717 42681851 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42681717 42681851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42691388 42691708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 42705001 42705413 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 42726939 42742776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42726939 42742776 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42726939 42742776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 4272798 4289404 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 42737708 43956838 LOH Normal High-resolution SNP genotyping 21211785 chr8 42810975 42817631 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42810975 42817631 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42810975 42817631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42823938 42870955 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42825091 42870939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42825091 42870939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42827761 42861632 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 42831236 42831336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4285516 4285616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 42855536 42855764 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42855536 42855764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42855536 42855837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42871190 42994084 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 42871190 42994084 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42871190 42994084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42911441 42940932 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr8 42917114 42973295 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 42920812 42973295 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 42923688 42923795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 42923690 42923795 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42923692 42923795 Gain and loss Pancreatic cancer SNP array 17952125 chr8 42957304 47955934 Copy number Lung cancer paired-end sequencing 18438408 chr8 42960903 47957403 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 42971602 72924037 Deletion Cancer Affymetrix 250K Sty array 20164920 chr8 4298075 4433268 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 43030598 43060088 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 43030599 43060080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 43030599 43060080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 43030641 43060080 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43039652 43040660 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 43047774 43047918 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43047774 43047918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 43047775 43047919 Gain and loss Pancreatic cancer SNP array 17952125 chr8 4305992 4306516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 43067818 43097480 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 43067818 43097480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 43071141 50259861 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 43077849 43097177 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43100000 45600000 Amplification head and neck squamous cell carcinoma CGH 17671120 chr8 43100000 45600000 Duplication Mental retardation array CGH 17124404 chr8 43114749 43177126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 43114749 43177126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 43114809 43142349 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43127276 43127351 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43127276 43127351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 431449 437727 Copy number Autism exome sequencing 22495311 chr8 43151800 43448388 Copy number Hematopoietic stem cell StepOnePlus Real-Time PCR System 20738155 chr8 43152880 43155536 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 43154831 43176123 Gain and loss Pancreatic cancer SNP array 17952125 chr8 431646 484974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 431646 484974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 431647 484974 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43200000 45200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 43200000 48100000 Increases Medulloblastoma interphase fluorescence in situ hybridization(I-FISH) 20607354 chr8 43211501 43216250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43232092 43820269 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 43234985 43773529 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 43245611 43246260 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43248501 43251500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43249400 43251244 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43266742 43337485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 43266742 43337485 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43266742 43337485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 43277676 43277781 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43277676 43277782 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43316098 43331157 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 43334689 43334870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 43352598 43352809 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43352598 43352809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 43352598 43352810 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43355944 43356250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 43355944 43356266 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43355945 43356185 Gain and loss Pancreatic cancer SNP array 17952125 chr8 43360903 43360935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 43416598 43416693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 43419714 43419808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 43419988 43680170 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 43452765 146250794 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr8 43485001 43488000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43488001 43508500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43490701 43566600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43508501 43512500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43512501 43519000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43519001 43525500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43524532 43538005 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 43525501 43535500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43534968 43535073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 43535501 43546500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43558059 43843609 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 43573556 43573653 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 43581554 43863544 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 43592905 43910848 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr8 4365682 4365757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 43661251 43662500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43684627 43864365 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 43689385 43910848 Gain Normal Illumina 300K SNP 19997636 chr8 4370669 4371669 Gain Renal cell carcinoma References 21215367 chr8 43870201 46982100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43878001 43912000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43912001 43914000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43914001 43938000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 43938001 46976000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 4404087 4404187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4408163 4408263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 442501 444000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 444001 567500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 4452908 4453013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4452925 4453143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4457453 4457543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4474041 4979683 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 45200000 146274826 Copy number Cancer ICA method 16751803 chr8 45200000 146274826 Copy number Langer-Giedion syndrome MLPA 22283845 chr8 45200000 146274826 Copy number Uveal melanoma Multiplex ligation-dependent probe amplification 21693616 chr8 45200000 146274826 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr8 45200000 146274826 Duplication Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr8 45200000 146274826 Duplication Splenic marginal zone lymphoma FISH,oligonucleotide CGH arrays 21957467 chr8 45200000 146274826 Duplication T-cell prolymphocytic leukemia References 19278963 chr8 45200000 146274826 Gain Breast cancer Affymetrix GeneChip Mapping 100K Array Set 20632083 chr8 45200000 146274826 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr8 45200000 146274826 Gain Breast cancer oligonucleotide CGH arrays 19602461 chr8 45200000 146274826 Gain colon cancer comparative genomic hybridization 17210682 chr8 45200000 146274826 Gain Esophageal squamous carcinoma CGH 21637470 chr8 45200000 146274826 Gain Ewing's sarcoma CGH(Reference) 21437220 chr8 45200000 146274826 Gain Glioblastoma multiforme aCGH 21080181 chr8 45200000 146274826 Gain Glioblastoma multiforme CGH 19960244 chr8 45200000 146274826 Gain Hepatocellular carcinoma CGH 22174799 chr8 45200000 146274826 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr8 45200000 146274826 Gain Oral cancer array comparative genomic hybridization 19627613 chr8 45200000 146274826 Gain or loss Breast cancer aCGH 21264507 chr8 45200000 146274826 Gain or loss Endometrial cancer CGH 22040021 chr8 45200000 146274826 Gain Prostate cancer - 21088497 chr8 45200000 146274826 Gain Uveal melanoma Multiplex ligation-dependent probe amplification (MLPA) 21881845 chr8 45200000 146274826 Increases Breast cancer Patient-specific Data Fusion 22028636 chr8 45200000 146274826 In Renal cell carcinoma MCG Whole Genome Array-4500 21228928 chr8 45200000 146274826 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr8 45200000 146274826 Loss Glioblastoma multiforme aCGH 21080181 chr8 45200000 48100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 45200000 48100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 45200000 50400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 4538739 4539377 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 4544124 4544224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 45600000 146364022 Amplification Breast cancer BAC-arrays 17001317 chr8 45600000 146364022 Amplification Esophageal squamous carcinoma CGH 18350619 chr8 45600000 146364022 Amplification Gastric cancer Array CGH 17167181 chr8 45600000 146364022 Deletion Colorectal cancer GISTIC software 19359472 chr8 45600000 146364022 Gain Breast cancer Array CGH 16461572 chr8 45600000 146364022 Gain head and neck squamous cell carcinoma A Perkin-Elmer/ABI 7900 thermocycler QPCR and QReal-Time PCR 18028549 chr8 45600000 146364022 Gain Human rectal carcinomas oligonucleotide arrays 16397240 chr8 45600000 146364022 Gain Medulloblastoma CGH 16968546 chr8 45600000 48100000 Amplification Hepatocellular carcinoma Array CGH 16750200 chr8 45600000 48100000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr8 45600000 78300000 Copy number Salivary gland tumor spectral karyotyping, FISH and high-resolution oligonucleotide array-CGH 18059337 chr8 4589327 4591645 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 4596112 4755808 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 4596112 4890346 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 4666934 5400108 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 4669277 5914260 Duplication Normal MAD tool 21586113 chr8 468391 468667 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 46958273 47006618 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 46958273 47874438 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 47952881 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 47996286 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 48005042 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 48130621 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 48536687 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49189687 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49201759 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49205747 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49209565 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49219519 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49278422 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49321752 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49326430 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49363260 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49374334 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49394535 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49666194 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49672109 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49699102 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49703796 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49708297 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49752198 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49755476 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49791151 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 49878710 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 50889798 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 51103240 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 51339139 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 51642780 LOH Normal High-resolution SNP genotyping 21211785 chr8 46958273 53485072 LOH Normal High-resolution SNP genotyping 21211785 chr8 46962999 46963058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 46966687 47261663 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 46976001 47009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47006618 47083694 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 47017001 47027000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47041501 47060500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47042320 47042420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47043376 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 47043376 146274826 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-604K arrays 21546498 chr8 47043376 47926151 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-606K arrays 21546498 chr8 47043376 79798419 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 47057324 47182597 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 47059000 146264000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr8 47062007 47406312 Gain Normal Illumina 300K SNP 19997636 chr8 47062007 47711911 Gain Normal Illumina 300K SNP 19997636 chr8 47062121 146250824 Gain Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr8 47062121 146264902 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr8 47070736 47071340 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47070736 47071340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 47083694 49326430 LOH Normal High-resolution SNP genotyping 21211785 chr8 47110747 47111598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 47110789 47111641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 47112812 47113264 Copy number Hematopoietic stem cell StepOnePlus Real-Time PCR System 20738155 chr8 47119501 47126000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47120028 47294570 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 47120596 47283738 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 47122659 47122691 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47123646 47294570 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 47128501 47154000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47154001 47158000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47158001 47183500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47174473 47174542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47191170 49791151 LOH Normal High-resolution SNP genotyping 21211785 chr8 47194833 47309786 Gain Autism - 20841430 chr8 47204001 47294500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47205874 47205963 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47304001 47309000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47314001 47316000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47316001 47318500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 4731740 4731840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47323139 47323239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47348279 47348355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47357001 47374500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47381061 49189687 LOH Normal High-resolution SNP genotyping 21211785 chr8 47404501 47422500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47432001 47479500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47500473 47500805 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 47525628 47539786 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr8 47535393 48723259 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 47556696 47556796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47645876 47658735 Gain Normal 244K array 17666407 chr8 47646713 47655709 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 47646713 47655711 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 47647930 47652053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 47655000 57255000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr8 47658706 47680223 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 47707695 47720937 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 47715564 47737784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 477647 57129743 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 477647 58378511 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 47771122 47798333 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 47815788 47816530 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47849022 47849102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47858683 47858750 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47858683 47858750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 47858752 47858823 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47858821 47858888 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47858821 47858888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 47859203 47859277 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47859203 47859277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 47861838 47861942 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47868221 47868288 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47868221 47868288 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 47869497 47869565 Gain and loss Pancreatic cancer SNP array 17952125 chr8 47869497 47869565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 47874438 47888937 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 47875213 47904196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 4788203 4788303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4788738 4798863 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 47888937 51192849 LOH Normal High-resolution SNP genotyping 21211785 chr8 47902056 47902156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 47940001 47965000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 47959526 48004032 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 47962203 61838955 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 47974046 137732018 Copy number Lung cancer paired-end sequencing 18438408 chr8 47996286 50203819 LOH Normal High-resolution SNP genotyping 21211785 chr8 47996286 50507472 LOH Normal High-resolution SNP genotyping 21211785 chr8 47996286 51644567 LOH Normal High-resolution SNP genotyping 21211785 chr8 47999396 47999516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 48003261 48005405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48003979 48005405 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48053048 48053148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48067862 78802299 Duplicationlicaiton Acute myeloid leukemia - 21251322 chr8 48098084 48098181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48098821 48099111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48098902 48099110 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48098902 48099110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48100000 106100000 Gain Ewing's sarcoma Affymetrix 100K SNP Microarray(Reference) 21437220 chr8 48100000 136500000 Loss Glioblastoma multiforme aCGH 21080181 chr8 48100000 146274826 Gain Breast cancer Array CGH 16608533 chr8 48100000 146274826 Loss Metanephric adenoma Oligo aCGH 20802469 chr8 48100000 146364022 Gain Hepatocellular carcinoma Array CGH 18803288 chr8 48100000 50400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 48100000 50400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 48100000 52800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 48100000 55600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr8 48100000 61600000 Gain Prostate cancer Array CGH 16461572 chr8 48102110 48102197 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48102110 48102197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48111937 49189687 LOH Normal High-resolution SNP genotyping 21211785 chr8 48136481 51946973 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr8 48143884 146081698 Gain Prostate cancer Array CGH 18632612 chr8 48151000 106195000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr8 48162569 48162675 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48162569 48162675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48162570 48162675 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48164001 48166000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 48172167 48172252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48178266 48199214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 48187900 48188590 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 48187900 48188590 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48187900 48188590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48228759 48233520 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48233281 48233685 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 48233281 48233685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48336095 48811026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 48336095 48811026 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48336095 48811028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 48336095 48811028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48343375 48554996 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 48346324 48346409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48348324 48348411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48351903 48797073 Amplification Breast cancer FISH 17142309 chr8 4836501 4839500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 48366195 48444781 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 48366195 48444781 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48377244 48377276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48393704 48393804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48429387 48430698 Loss Normal 244K array 17666407 chr8 48441470 48441570 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48466062 48688735 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 48489083 49598587 Microdeletion 22q11 deletion syndrome Affymetrix 250k SNP (NspI) array 20357662 chr8 48514905 48515905 Loss Osteosarcoma References 21215367 chr8 48523106 48523191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48530501 48531501 Loss Osteosarcoma References 21215367 chr8 48536687 49205747 LOH Normal High-resolution SNP genotyping 21211785 chr8 48536687 49326430 LOH Normal High-resolution SNP genotyping 21211785 chr8 48592260 49189687 LOH Normal High-resolution SNP genotyping 21211785 chr8 48631388 48802529 Gain Autism Affy 5.0 (Bucan etal. 2009) 20531469 chr8 48663146 48663214 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 48685668 48872743 Gain Esophageal adenocarcinoma MLPA 18820669 chr8 48696997 48697097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 48742886 48742992 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48742886 48742992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48765200 51339139 LOH Normal High-resolution SNP genotyping 21211785 chr8 48778535 49703796 LOH Normal High-resolution SNP genotyping 21211785 chr8 48778535 49945296 LOH Normal High-resolution SNP genotyping 21211785 chr8 48812028 48813279 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 48812426 48813235 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 48812426 48813235 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48812426 48813235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48847974 48848974 Gain Renal cell carcinoma References 21215367 chr8 48848221 49035296 Copy number Lung cancer - 20668451 chr8 48848221 49035296 Gain or loss Breast cancer - 20668451 chr8 48848221 49035296 Gain or loss Cancer - 20668451 chr8 48848221 49035296 Gain or loss Lung cancer - 20668451 chr8 48848221 49035296 Gain or loss Ovarian cancer - 20668451 chr8 48848221 49035296 Gain or loss Pancreas cancer - 20668451 chr8 48848221 49035296 Gain or loss Prostate cancer - 20668451 chr8 48848222 49035296 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 48848222 49035296 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 48848222 49035296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 48848222 49035296 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48848222 49035296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48854459 49037364 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 48880193 48880293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48880195 48880293 Gain and loss Pancreatic cancer SNP array 17952125 chr8 48923911 48924911 Loss Renal cell carcinoma References 21215367 chr8 48950846 49170567 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 48957732 48979848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 48965172 48965244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 48997304 49030117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 49036047 49052621 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 49036047 49052621 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 49036047 49052621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 49036047 49052621 Gain and loss Pancreatic cancer SNP array 17952125 chr8 49036047 49052621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 49054527 49054633 Gain and loss Pancreatic cancer SNP array 17952125 chr8 49054527 49054633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 49054527 49054634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 4905758 5947152 Copy number Type 2 diabetes ILLumia HumanHap305 BeadChip 21526130 chr8 49083547 49137007 Gain or loss Breast cancer - 20668451 chr8 49083547 49137007 Gain or loss Cancer - 20668451 chr8 49083547 49137007 Gain or loss Lung cancer - 20668451 chr8 49083547 49137007 Gain or loss Ovarian cancer - 20668451 chr8 49083547 49137007 Gain or loss Pancreas cancer - 20668451 chr8 49083547 49137007 Gain or loss Prostate cancer - 20668451 chr8 49083548 49137003 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 49083548 49137003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 49083548 49137003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 49083548 49137005 Gain and loss Pancreatic cancer SNP array 17952125 chr8 4909242 4909342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 49101890 49101980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 49184635 115771855 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 4922670 6037664 LOH Normal High-resolution SNP genotyping 21211785 chr8 49232844 49232904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 49236123 49236223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 49255539 49256514 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 49255691 49258280 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 49255939 49256531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 4928632 4928928 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 49362571 49362671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 49374334 49945296 LOH Normal High-resolution SNP genotyping 21211785 chr8 49374334 50062695 LOH Normal High-resolution SNP genotyping 21211785 chr8 49374334 50280965 LOH Normal High-resolution SNP genotyping 21211785 chr8 49383043 49383142 Gain and loss Pancreatic cancer SNP array 17952125 chr8 49383043 49383142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 49384285 49385062 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 49434882 52424024 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 49457251 49457351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 49474067 52121813 LOH Normal High-resolution SNP genotyping 21211785 chr8 49538510 49538588 Gain and loss Pancreatic cancer SNP array 17952125 chr8 49538510 49538588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 49573155 50211961 LOH Normal High-resolution SNP genotyping 21211785 chr8 49662696 49663696 Loss Osteosarcoma References 21215367 chr8 49665514 49669745 Gain and loss Pancreatic cancer SNP array 17952125 chr8 49665514 49862773 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 49711469 49711769 Gain Renal cell carcinoma References 21215367 chr8 4973209 4973342 Gain and loss Pancreatic cancer SNP array 17952125 chr8 4973209 4973342 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 49736839 51357520 LOH Normal High-resolution SNP genotyping 21211785 chr8 49752198 52320316 LOH Normal High-resolution SNP genotyping 21211785 chr8 49752198 52329019 LOH Normal High-resolution SNP genotyping 21211785 chr8 49761135 49761235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4976549 36631926 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 49778921 49779021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 49785905 49810344 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 49798533 49810344 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 49798533 49810344 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 49798533 49810344 Gain and loss Pancreatic cancer SNP array 17952125 chr8 49798533 49810344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 49802227 49802527 Loss Renal cell carcinoma References 21215367 chr8 49820619 50399098 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 49834693 49834792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 4987341 4987637 Gain and loss Pancreatic cancer SNP array 17952125 chr8 4987341 4987637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 49934072 51628569 LOH Normal High-resolution SNP genotyping 21211785 chr8 49934072 51637243 LOH Normal High-resolution SNP genotyping 21211785 chr8 49936137 50767044 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 49940000 58230000 Amplification Sezary syndrome Array-based CGH 18413736 chr8 49986662 51603179 LOH Normal High-resolution SNP genotyping 21211785 chr8 49989028 49989312 Gain and loss Pancreatic cancer SNP array 17952125 chr8 49992793 49996541 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 49992794 49996541 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 49992802 49996541 Gain and loss Pancreatic cancer SNP array 17952125 chr8 49992802 49996852 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 49992802 49996852 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 49992802 49996852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 50047895 50093067 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 50067933 50104256 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 50075932 50113363 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 50075932 50139001 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 50097857 50124018 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 50121765 51339139 LOH Normal High-resolution SNP genotyping 21211785 chr8 50124862 50124894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 50147455 50151195 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 50147456 50149643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 50147460 50149643 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 50147466 50150714 Gain and loss Pancreatic cancer SNP array 17952125 chr8 50147581 50147881 Loss Chordoma References 21215367 chr8 50147822 50148822 Loss Chordoma References 21215367 chr8 50171744 50171887 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 50203819 51299440 LOH Normal High-resolution SNP genotyping 21211785 chr8 50203819 52154879 LOH Normal High-resolution SNP genotyping 21211785 chr8 50218658 50253482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 50221433 51901654 LOH Normal High-resolution SNP genotyping 21211785 chr8 50225738 51628569 LOH Normal High-resolution SNP genotyping 21211785 chr8 50229598 50805830 LOH Normal High-resolution SNP genotyping 21211785 chr8 50267811 50571433 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 50278299 50285424 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 50327050 50327134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 50398100 52686506 LOH Normal High-resolution SNP genotyping 21211785 chr8 50400000 146274826 Amplificationlified Ovarian cancer Affymetrix GeneChip HT Human Genome U133A array 22174824 chr8 50400000 52800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 50400000 52800000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 50400000 55600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 50400433 51710645 LOH Normal High-resolution SNP genotyping 21211785 chr8 50405322 50405588 Gain and loss Pancreatic cancer SNP array 17952125 chr8 50405322 50405658 Gain and loss Pancreatic cancer SNP array 17952125 chr8 50405322 50405658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 50439937 51103240 LOH Normal High-resolution SNP genotyping 21211785 chr8 50439937 51339139 LOH Normal High-resolution SNP genotyping 21211785 chr8 50439937 51505804 LOH Normal High-resolution SNP genotyping 21211785 chr8 50439937 51529676 LOH Normal High-resolution SNP genotyping 21211785 chr8 50439937 51534455 LOH Normal High-resolution SNP genotyping 21211785 chr8 50439937 52135041 LOH Normal High-resolution SNP genotyping 21211785 chr8 50439937 52261532 LOH Normal High-resolution SNP genotyping 21211785 chr8 50448668 51357520 LOH Normal High-resolution SNP genotyping 21211785 chr8 50448668 51624623 LOH Normal High-resolution SNP genotyping 21211785 chr8 50448668 51710645 LOH Normal High-resolution SNP genotyping 21211785 chr8 50448668 52144935 LOH Normal High-resolution SNP genotyping 21211785 chr8 50448668 52500111 LOH Normal High-resolution SNP genotyping 21211785 chr8 50457403 51529676 LOH Normal High-resolution SNP genotyping 21211785 chr8 50457403 51710645 LOH Normal High-resolution SNP genotyping 21211785 chr8 50489945 50490945 Loss Chordoma References 21215367 chr8 50563108 52150076 LOH Normal High-resolution SNP genotyping 21211785 chr8 50578416 50757620 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 50578416 50819905 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 50594566 50622570 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 50603599 50649344 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 50608009 52932316 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 50609632 50609732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 50616246 50616306 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 50622559 50643154 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 50622571 50695376 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 5063717 5268226 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 5066434 5076509 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 50691561 50697115 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 50705717 50705817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 50715453 50715553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 50759834 51484509 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 50787027 50793325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 50790621 52586013 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 50815350 50816416 Gain and loss Pancreatic cancer SNP array 17952125 chr8 50816523 51710645 LOH Normal High-resolution SNP genotyping 21211785 chr8 50882371 55506571 Copy number Lung cancer paired-end sequencing 18438408 chr8 50924447 51790670 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 50930356 50930449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 50963880 50963959 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 5099814 5140168 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 51049146 51223381 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 51049146 51300548 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 5105923 5126187 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 5105923 5140168 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 5106141 24469396 Loss Medulloblastoma array-CGH 16783165 chr8 51099593 51624029 LOH Normal High-resolution SNP genotyping 21211785 chr8 51127537 51127637 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51143041 51151309 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 51160078 51205191 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 51183277 51183372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51189838 51211282 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 51190334 51207434 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 51191601 51202800 Deletion Glioma mate-paired sequence 20126413 chr8 51192194 51222985 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 51192849 51211910 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 51192890 51207077 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 51193645 51200864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 51193665 51200888 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 51194564 51194577 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 51194577 51195974 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 51194577 51195974 Deletion Type 1 diabetes Affymetrix SNP Array 6.0 21085585 chr8 51194577 51195976 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 51194580 51207077 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 5120649 5120734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51211910 52866925 LOH Normal High-resolution SNP genotyping 21211785 chr8 51211910 52878531 LOH Normal High-resolution SNP genotyping 21211785 chr8 51222063 51222150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51224730 51224830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51258452 52213831 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 51277581 52080057 Microdeletion 22q11 deletion syndrome Affymetrix 250k SNP (NspI) array 20357662 chr8 51339139 52686506 LOH Normal High-resolution SNP genotyping 21211785 chr8 51376201 51399749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 51387536 51390867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 51389781 51390731 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 51392874 51392996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5141735 5984253 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 51436699 51436799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51442309 51442412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51442458 51442628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51442464 51442564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51469190 52021306 LOH Normal High-resolution SNP genotyping 21211785 chr8 51469190 52121813 LOH Normal High-resolution SNP genotyping 21211785 chr8 51469190 52190497 LOH Normal High-resolution SNP genotyping 21211785 chr8 51469190 52496259 LOH Normal High-resolution SNP genotyping 21211785 chr8 51469311 51867974 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 51469311 51867974 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 51469311 51867980 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 51469352 51867942 Gain and loss Pancreatic cancer SNP array 17952125 chr8 51474991 51475091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51537267 51537584 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 51603257 52761887 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 51669375 53277053 LOH Normal High-resolution SNP genotyping 21211785 chr8 51690096 51690190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51698745 53093996 LOH Normal High-resolution SNP genotyping 21211785 chr8 51723458 52192291 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 51736654 53104993 LOH Normal High-resolution SNP genotyping 21211785 chr8 5176476 5176776 Loss Renal cell carcinoma References 21215367 chr8 51781089 51781189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51799300 51799400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 51901322 51935650 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 51976672 51976772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52090134 52090278 Gain and loss Pancreatic cancer SNP array 17952125 chr8 52090134 52090278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 52090135 52090278 Gain and loss Pancreatic cancer SNP array 17952125 chr8 52100464 54281947 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 52109083 52110083 Loss Renal cell carcinoma References 21215367 chr8 52140147 52824114 LOH Normal High-resolution SNP genotyping 21211785 chr8 52140147 53092644 LOH Normal High-resolution SNP genotyping 21211785 chr8 52192842 52194430 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 52194243 52194288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52200000 146364022 Gain Prostate cancer Array CGH 16573809 chr8 52200000 52600000 Deletion Colorectal cancer GISTIC software 19359472 chr8 52223549 52223859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 52234238 53093996 LOH Normal High-resolution SNP genotyping 21211785 chr8 52234238 53095282 LOH Normal High-resolution SNP genotyping 21211785 chr8 52274145 53607649 LOH Normal High-resolution SNP genotyping 21211785 chr8 52295429 52295579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52295914 52296014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52308387 52353685 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 52320161 53172621 LOH Normal High-resolution SNP genotyping 21211785 chr8 52320161 53464710 LOH Normal High-resolution SNP genotyping 21211785 chr8 52325326 53277053 LOH Normal High-resolution SNP genotyping 21211785 chr8 52394689 52884558 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 52394698 52484534 Gain and loss Pancreatic cancer SNP array 17952125 chr8 52394698 52884558 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 52394698 52884558 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 52394698 52884558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 52401049 52401149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52413749 52442990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 52449065 55475848 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 52486020 53099754 LOH Normal High-resolution SNP genotyping 21211785 chr8 52523449 52548159 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52524325 52548159 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52524325 52549146 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52528853 52548159 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52530056 52530244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 52530453 52530527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52573823 52573923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52581328 52581428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52584231 53504175 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 52588624 52620861 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 52600000 146364022 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr8 52621419 52621506 Gain and loss Pancreatic cancer SNP array 17952125 chr8 52621419 52621506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 52627254 52656314 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52628331 52644196 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52628331 52647169 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52628331 52655345 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52628331 52656314 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 52661508 54047671 LOH Normal High-resolution SNP genotyping 21211785 chr8 52682692 52683232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 52682721 52683717 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 52683678 52683778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5276487 5276587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 52800000 55600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 52800000 55600000 Copy number Normal - 21701786 chr8 52800000 55600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 52800000 55600000 Gain Uveal melanoma Multiplex Ligation-Dependent Probe Amplication 20484589 chr8 52800000 61700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 52804712 52826998 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 52819177 52819294 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 52866925 52895642 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 52878018 53274939 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 52878531 52895782 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 52892696 52893522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 52892696 52893522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 52892698 52894673 Gain and loss Pancreatic cancer SNP array 17952125 chr8 52892698 52974149 Gain and loss Pancreatic cancer SNP array 17952125 chr8 52892702 52936350 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 52892702 52936350 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 52892702 52936350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 52895642 53485072 LOH Normal High-resolution SNP genotyping 21211785 chr8 52895782 53485072 LOH Normal High-resolution SNP genotyping 21211785 chr8 52900515 52900837 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 5304517 5647951 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 53074678 53074978 Loss Renal cell carcinoma References 21215367 chr8 53082840 53083840 Loss Renal cell carcinoma References 21215367 chr8 53103415 53103515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5311392 5311483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53150805 53923265 LOH Normal High-resolution SNP genotyping 21211785 chr8 5316404 5947152 Copy number Normal - 20703242 chr8 53185951 53484856 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 53185952 53484848 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 53185952 53484848 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 53185952 53484848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 53185952 53484850 Gain and loss Pancreatic cancer SNP array 17952125 chr8 53259471 53650298 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 53277829 54089057 LOH Normal High-resolution SNP genotyping 21211785 chr8 53416356 53416656 Gain Renal cell carcinoma References 21215367 chr8 53428165 53715799 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 53461096 53461236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53464710 54207578 LOH Normal High-resolution SNP genotyping 21211785 chr8 53478547 53478582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53484053 54593889 LOH Normal High-resolution SNP genotyping 21211785 chr8 53484053 54595865 LOH Normal High-resolution SNP genotyping 21211785 chr8 53487131 53487223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53494323 54314876 LOH Normal High-resolution SNP genotyping 21211785 chr8 53517810 53517937 Gain and loss Pancreatic cancer SNP array 17952125 chr8 53545433 53545533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53560879 53561504 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 53567997 53568072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53598684 53928945 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 53604722 53605022 Gain Renal cell carcinoma References 21215367 chr8 53609250 53640565 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 53609250 53640565 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 53609251 53640565 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 53609255 53640565 Gain and loss Pancreatic cancer SNP array 17952125 chr8 53609255 53640574 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 53609255 53640574 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 53609255 53640574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 53618723 53618823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53647751 53649500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 53691424 54493153 LOH Normal High-resolution SNP genotyping 21211785 chr8 53697569 53789545 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 53697569 53789545 Gain and loss Pancreatic cancer SNP array 17952125 chr8 53697569 53789579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 53697569 53789579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 53697570 53789579 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 53708080 53709080 Gain Renal cell carcinoma References 21215367 chr8 53715730 97139849 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 53726328 53727328 Gain Renal cell carcinoma References 21215367 chr8 53823346 54105603 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 53838124 54281947 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 53844964 53845064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53861701 53866000 Deletion Glioma mate-paired sequence 20126413 chr8 53863517 53864178 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 53898956 53899056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 53996755 53996855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5400108 5794894 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 54013546 54016230 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 54013546 54016230 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 54013546 54016230 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54013546 54016230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 54014501 54017000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 54028743 54072770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 54037780 54568403 LOH Normal High-resolution SNP genotyping 21211785 chr8 54063594 54564247 LOH Normal High-resolution SNP genotyping 21211785 chr8 54122366 54123376 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54126685 54126785 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 54137285 54137701 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54145456 54218463 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54149417 54216956 Gain and loss Pancreatic cancer SNP array 17952125 chr8 541687 596356 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 54262279 54262359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 54281857 54995063 LOH Normal High-resolution SNP genotyping 21211785 chr8 54281857 55257061 LOH Normal High-resolution SNP genotyping 21211785 chr8 54285105 54286200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 54291711 54303676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 54292628 54306886 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 54300828 54326747 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 54300829 54326747 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 54300829 54326747 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 54300829 54326747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 54304326 54326525 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54317163 54348317 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 54330392 54330452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 54367436 54367751 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 544412 544552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 54485545 54485645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 54599433 54630923 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 54613478 55239504 LOH Normal High-resolution SNP genotyping 21211785 chr8 54614977 54615509 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 54633501 54635500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 54637142 54900026 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 54690819 54707808 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 54690819 54722764 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 54715473 54715773 Loss Renal cell carcinoma References 21215367 chr8 54790669 54918403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 54790669 54918403 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 54790669 54918403 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54790669 54918403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 54833719 54834719 Gain Renal cell carcinoma References 21215367 chr8 5484720 5486825 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 54855118 54856118 Gain Renal cell carcinoma References 21215367 chr8 54872558 54872621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 54926921 55034416 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 54926921 55034416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 54926921 55034416 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54926921 55034416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 54929075 54984773 Amplification or deletion Cancer Array CGH 17440070 chr8 54944097 54944230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 54945237 54945337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 54956001 54958000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 54989832 54989932 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54989832 54989937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 54989832 54989960 Gain and loss Pancreatic cancer SNP array 17952125 chr8 54995543 55179518 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 55041668 55097561 Gain or loss Breast cancer - 20668451 chr8 55041668 55097561 Gain or loss Cancer - 20668451 chr8 55041668 55097561 Gain or loss Lung cancer - 20668451 chr8 55041668 55097561 Gain or loss Ovarian cancer - 20668451 chr8 55041668 55097561 Gain or loss Pancreas cancer - 20668451 chr8 55041668 55097561 Gain or loss Prostate cancer - 20668451 chr8 55041668 55097561 Translate Adenocarcinoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 chr8 55041676 55097561 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55045401 55097561 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 55045401 55097561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55113891 55113991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55115556 55115856 Loss Renal cell carcinoma References 21215367 chr8 55121491 55177130 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 55121492 55177130 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 55121492 55177130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 55121492 55177130 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55121492 55177130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55124948 55651731 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 55126550 55129333 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 55134403 55134716 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 55206116 55206196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55210316 55210786 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 55210334 55223009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 55210334 55223009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55210334 55223011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 55210334 55223011 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55210334 55223627 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 55217668 56104195 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 55225990 55560721 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 55266704 55267149 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55274615 55274662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5530529 5545454 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 55310413 55333231 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 55315087 55564332 Amplification Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr8 55325595 55325674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55356541 55373995 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 55361340 56023774 LOH Normal High-resolution SNP genotyping 21211785 chr8 55371525 55373674 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 55371599 55373373 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 5540259 5553912 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 55405799 55406005 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55405800 55406008 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55405800 55406008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55439756 55440756 Loss Chordoma References 21215367 chr8 55445412 56208954 LOH Normal High-resolution SNP genotyping 21211785 chr8 554748 671226 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 554749 571105 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55486603 79975099 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 55495581 55495806 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55495581 55495806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55495581 55495891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55496033 55496120 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55496033 55496120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55500000 146364022 Loss Prostate cancer Array CGH 16573809 chr8 55500000 73900000 Gain Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr8 55520694 61845911 Copy number Lung cancer paired-end sequencing 18438408 chr8 55528501 55535000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 55533047 55536009 Gain or loss Breast cancer - 20668451 chr8 55533047 55536009 Gain or loss Cancer - 20668451 chr8 55533047 55536009 Gain or loss Lung cancer - 20668451 chr8 55533047 55536009 Gain or loss Ovarian cancer - 20668451 chr8 55533047 55536009 Gain or loss Pancreas cancer - 20668451 chr8 55533047 55536009 Gain or loss Prostate cancer - 20668451 chr8 55533048 55535484 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 55533048 55535484 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55533048 55536009 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 55533048 55536009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55570137 56081644 LOH Normal High-resolution SNP genotyping 21211785 chr8 55578459 55579459 Gain Renal cell carcinoma References 21215367 chr8 55591581 55591642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55597892 55598428 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55597892 55598428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55600000 61700000 Amplification Carcinoma ex pleomorphic adenoma array-CGH 18828159 chr8 55600000 61700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 55600000 61700000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 55600000 61700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 55600000 61700000 Gain Multiple myeloma CGH, FISH 16461302 chr8 55600000 68100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 55600000 93500000 Deletion Medulloblastoma SNP arrays 21979893 chr8 55612264 55613264 Gain Renal cell carcinoma References 21215367 chr8 55616999 56185584 LOH Normal High-resolution SNP genotyping 21211785 chr8 55627704 55627787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55638211 55638311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55639222 55639301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55639357 55639537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55641644 55641744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55691180 55705947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 55691180 55705947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 55691180 55705947 Gain and loss Pancreatic cancer SNP array 17952125 chr8 55691180 55705947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 55704652 55714020 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 55720159 55721159 Loss Chordoma References 21215367 chr8 55720469 55725676 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 55723885 55724885 Loss Chordoma References 21215367 chr8 55752249 55752343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55762432 55764501 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr8 5577388 5578388 Loss Renal cell carcinoma References 21215367 chr8 5582626 5594178 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 5582925 5593185 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 5583136 5591731 Loss Normal 244K array 17666407 chr8 5583199 5592495 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 5584012 5593808 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 55850300 55850400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55854666 56104195 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 5586122 5591428 Copy number Obesity Affymetrix Genome-Wide Human SNP Array 6.0 21131291 chr8 5586134 5591735 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 5591735 5594648 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 5599308 5599408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 55994013 55994093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56031578 79449753 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr8 56032865 56033087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56036182 56038619 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr8 56071201 56339119 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 56085596 79015567 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr8 56106474 56106560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56119985 57277665 Amplification Breast cancer FISH 17142309 chr8 56175908 56176908 Gain Chordoma References 21215367 chr8 56176216 56176516 Loss Chordoma References 21215367 chr8 56177571 56601262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 56177571 56601262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 56177571 56601262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56178038 56599340 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56259724 57029201 LOH Normal High-resolution SNP genotyping 21211785 chr8 56268587 56268687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56270252 56270608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 56276354 57295971 LOH Normal High-resolution SNP genotyping 21211785 chr8 56277030 56277130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56277606 56322879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 5633227 5650965 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 56347872 56688993 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 5636588 5650965 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 56369808 56381051 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 56369808 56381223 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 56369808 56385062 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 5638409 5786129 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 56396492 56396582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56413185 56413285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56449229 56972297 LOH Normal High-resolution SNP genotyping 21211785 chr8 5647951 6294141 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 564871 564971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56503827 56503896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56516542 56516842 Loss Renal cell carcinoma References 21215367 chr8 56524501 56529500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 56524638 56525338 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56528186 56530253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56529093 56530265 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56562593 56562693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56563757 56564072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 56569001 56571000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 56604747 56604861 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56613416 57474553 LOH Normal High-resolution SNP genotyping 21211785 chr8 56638696 56638796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 56651319 56685884 Amplification Prostate cancer aCGH 22341455 chr8 56670290 56672458 Gain Normal 244K array 17666407 chr8 56685790 56738004 Amplification Prostate cancer aCGH 22341455 chr8 56723951 56755832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 567249 607667 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 567386 607885 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 567501 571500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 56752346 56752437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56789717 56790717 Loss Renal cell carcinoma References 21215367 chr8 56792385 56923939 Amplification Prostate cancer aCGH 22341455 chr8 56802602 56854829 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 568026 808128 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 56813874 56848439 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 56813874 56848439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 56813874 56848439 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56813874 56848439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56820343 56820430 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56820345 56820446 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56820346 56820454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56838834 56838963 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr8 56842116 56842217 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 56848255 56900557 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 56848255 56900557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 56848255 56900557 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56848255 56900557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 569103 591042 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 569114 596452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 56917587 56917895 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56917587 56917895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56954926 57085685 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 56954926 57086493 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56954940 57086494 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 56954948 57086493 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 56954948 57086493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56964642 57898679 LOH Normal High-resolution SNP genotyping 21211785 chr8 56977836 56977967 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56977836 56977968 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56977836 56977968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56980738 56987139 Amplification Prostate cancer aCGH 22341455 chr8 56984074 56984165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56984208 56984590 Gain and loss Pancreatic cancer SNP array 17952125 chr8 56984208 56984590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 56989163 58683034 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 5702350 5703350 Loss Renal cell carcinoma References 21215367 chr8 57025500 57026540 Amplification Prostate cancer aCGH 22341455 chr8 57031700 99396100 Gain Prostate cancer Array CGH 18632612 chr8 57055354 57055647 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57055354 57055647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57055355 57055653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57061907 57062907 Gain Renal cell carcinoma References 21215367 chr8 57073467 57123858 Amplification Prostate cancer aCGH 22341455 chr8 57097132 57097410 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57097132 57097410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57097134 57097426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57117487 57117599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57123443 57173799 Amplification or deletion Cancer Array CGH 17440070 chr8 57124314 57131177 Amplification Prostate cancer aCGH 22341455 chr8 57125151 57126320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57125151 57126329 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57129871 57130023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 57139236 57139326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57148169 57149623 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 57148169 57149623 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57148169 57149623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57148952 57149014 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57148952 57149014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 571501 574500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 5715423 5720143 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 5715423 5720143 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 5715429 5716757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 57159999 57160099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57179001 57180500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 57188055 57189095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 57188055 57189095 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 57188055 57189095 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57188055 57189095 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57196355 57196465 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57211191 57261088 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 57212475 57256905 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 57212569 57233240 Amplification Prostate cancer aCGH 22341455 chr8 57236021 57286413 Gain or loss Breast cancer - 20668451 chr8 57236021 57286413 Gain or loss Cancer - 20668451 chr8 57236021 57286413 Gain or loss Lung cancer - 20668451 chr8 57236021 57286413 Gain or loss Ovarian cancer - 20668451 chr8 57236021 57286413 Gain or loss Pancreas cancer - 20668451 chr8 57236021 57286413 Gain or loss Prostate cancer - 20668451 chr8 57236037 57286392 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 57236037 57286392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 57236037 57286392 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57236037 57286392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57256245 57256345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57281842 57284199 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 57285626 57307923 Amplification Prostate cancer aCGH 22341455 chr8 57286869 57293728 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 57286869 57293728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 57286869 57293728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57286902 57292578 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 57286902 57292578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 57286902 57292578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57286902 57293911 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57311429 57312429 Gain Chordoma References 21215367 chr8 5732258 5732331 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 5735585 5735913 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 57375122 57395795 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 57375122 57395795 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 57375122 57395795 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57375122 57395795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57399086 57399186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57422692 57422830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 574501 578000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 57462755 57462870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 57497250 57510040 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 57516071 57521143 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 57516071 57521143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 57516071 57521143 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57516071 57521143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 5752208 5839878 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 57534752 57534852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5755846 5756166 Gain and loss Pancreatic cancer SNP array 17952125 chr8 5755857 5756166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 5755936 5756166 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57632794 57639320 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 57640125 57676061 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 57651127 58683034 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 57677734 57711171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 57714837 57932819 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-610K arrays 21546498 chr8 577296 592013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 57743526 57743589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57744052 57744146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57757261 58123374 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 57759698 57759761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 577826 607667 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 57786692 57939142 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr8 578001 584500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 57810795 57810885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57847776 57847906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57847939 57848062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57857456 57902747 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 5787859 5833679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 57939821 57942903 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 5794894 7035650 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 57970521 57970621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 57992197 57992303 Gain and loss Pancreatic cancer SNP array 17952125 chr8 57992197 57992303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 57997477 58523066 LOH Normal High-resolution SNP genotyping 21211785 chr8 580060 589748 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58031201 58031429 Gain and loss Pancreatic cancer SNP array 17952125 chr8 58031201 58031429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 58033042 58068981 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 58036569 58037024 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 58036569 58037024 Gain and loss Pancreatic cancer SNP array 17952125 chr8 58037822 58068957 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 58037822 58068957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 58037822 58068957 Gain and loss Pancreatic cancer SNP array 17952125 chr8 58037822 58068957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 58078418 58078518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 58084520 58084620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 58092946 58378511 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 58122939 58123007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 581251 593865 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58126780 58139800 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 58132701 58151218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58136031 58136111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 58136230 58154963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58136556 58152574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58136966 58151435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 5813919 5818714 Loss Normal 244K array 17666407 chr8 58139932 58159311 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58145000 58154467 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58157391 58314315 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr8 58201768 58201875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 58201786 58201872 Gain and loss Pancreatic cancer SNP array 17952125 chr8 58201786 58201872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 58208871 58208971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 58226061 58378511 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 58226061 58525998 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 582266 584720 Gain Normal 244K array 17666407 chr8 5824391 5824491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 582501 591400 Deletion Glioma mate-paired sequence 20126413 chr8 58258747 58258833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 58276684 58281635 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58276958 58283273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58277336 58293774 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 58277336 58293774 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 58277839 58281231 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58279104 58292579 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 58279104 58292579 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 58279449 58280822 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 58279550 58281450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58280866 58306288 Gain Normal 244K array 17666407 chr8 58281102 58283638 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58282516 58283322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58282790 58284482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58284254 58285605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58284277 58285069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58285663 58286811 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58285950 58287592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58286248 58286978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58287282 58294583 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58287638 58290394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58287807 58297580 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58287842 58299667 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58287971 58288774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58288118 58293589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 5829157 5829283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5829184 5829284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5829286 5829489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5829335 5829435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5830751 5831077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 58330935 58331935 Gain Renal cell carcinoma References 21215367 chr8 58333001 58336500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 58336661 58375319 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 5834549 6092262 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr8 58353501 58355500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 58354656 58359823 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 58354656 58359838 Gain and loss Pancreatic cancer SNP array 17952125 chr8 58354698 58355653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 583591 592259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58361919 58362757 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 583636 606629 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58364665 58364762 Gain and loss Pancreatic cancer SNP array 17952125 chr8 58364665 58364762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 58364667 58364762 Gain and loss Pancreatic cancer SNP array 17952125 chr8 58402588 58402643 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 58408304 58408404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 584128 589628 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 5841704 5938256 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 584398 589411 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 58441524 58441624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 584501 590000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 58456564 58456664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 584613 589414 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 58468949 58637003 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 584720 590672 Loss or gain Normal 244K array 17666407 chr8 58477518 58477577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 58478653 58478728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 584932 596452 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 584944 596117 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 584944 596452 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 584944 607667 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 58507765 58552442 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58515958 58538746 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58517210 58542013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58520879 58529512 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 58562249 58562349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 58615975 58649154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58634525 58634608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 58654291 59284616 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 5868740 5869740 Gain Osteosarcoma References 21215367 chr8 58817728 58852283 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 58879863 60315650 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 590001 1329500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 59023928 59024028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59036313 59036396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59053565 59059235 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 59053565 59059235 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 59053565 59059235 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59059492 59059541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59060102 59060202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59069666 59224831 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 59069667 59223896 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59069667 59224831 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 59069667 59224831 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 59069667 59224831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59129255 59877259 LOH Normal High-resolution SNP genotyping 21211785 chr8 59161514 59161559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 5921124 5922124 Loss Renal cell carcinoma References 21215367 chr8 5923169 5924169 Gain Renal cell carcinoma References 21215367 chr8 59241007 59241342 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 59303298 59303382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59363569 59364725 Gain and loss Pancreatic cancer SNP array 17952125 chr8 593729 593901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 59486377 59526613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 59486377 59526613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59486474 59526607 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59499775 59500392 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59545712 59545806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59563883 59591495 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 59565292 59575275 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 59565292 59575275 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 59565292 59575275 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59565292 59575275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59578710 59579164 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59598225 59614304 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 59615827 59615951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59628282 59657971 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59628282 59657972 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 59628282 59657972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 59628282 59657972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59635969 59636069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59638428 59638594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59645515 59682345 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 59658624 59734940 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 59658624 59734940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 59658624 59734940 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59658624 59734940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59725228 59725328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59731828 59731928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59737365 59737457 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59737365 59737457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 597527 599962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59758380 59758559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 59764084 59765092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 5978001 6029500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 5979777 6029944 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 59800000 106100000 Gain Multiple myeloma CGH, FISH 16461302 chr8 59800000 106100000 Gain Non-small cell lung cancer dChip 21829676 chr8 59800000 106100000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 chr8 59800000 106100000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 59800000 106100000 Translocation Acute myeloid leukemia parental-origin-determination fluorescence in situ hybridization 21358987 chr8 59800000 127300000 Amplification Carcinoma ex pleomorphic adenoma array-CGH 18828159 chr8 59800000 146274826 Copy number Adenocarcinoma Array comparative genomic hybridization 21044232 chr8 59800000 146274826 Copy number Squamous cell cancer aCGH 20885788 chr8 5981912 6029944 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 59865620 59899741 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 59880530 60194321 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 59880531 60194321 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 59880531 60194321 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 59880531 60194321 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59880531 60194321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59889522 59889665 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59889525 59889665 Gain and loss Pancreatic cancer SNP array 17952125 chr8 59889525 59889665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 59896874 60315650 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 59932 223973 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 59932 223973 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 59932 484890 Duplication Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr8 59932 484890 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 60026110 60026210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60050305 60050405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60075175 60075275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60112929 60113009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60176550 61282931 LOH Normal High-resolution SNP genotyping 21211785 chr8 60182291 60215303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 60184925 60404370 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 6019230 6029519 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 60194562 60195521 Gain and loss Pancreatic cancer SNP array 17952125 chr8 60194562 60196917 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 60194562 60196917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 60194562 60196917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 60195000 60289000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr8 60204135 60204234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60212394 60315650 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 60212485 60212614 Gain and loss Pancreatic cancer SNP array 17952125 chr8 60212485 60212615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 60241236 60586442 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 60315628 61548940 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 6032383 6059980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 60323862 60323960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60342328 60342377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 60365961 60367522 Loss Normal 244K array 17666407 chr8 604201 671226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 604201 671226 Gain and loss Pancreatic cancer SNP array 17952125 chr8 604201 671226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6044749 6044976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6044962 6045215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60461286 60461386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60472233 60885831 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 60485028 60485117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6049393 6091812 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 6050286 6050600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 6050901 6056171 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 60509380 61486646 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 60529245 60529345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60530998 60531087 Gain and loss Pancreatic cancer SNP array 17952125 chr8 60530998 60531123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 60531002 60531098 Gain and loss Pancreatic cancer SNP array 17952125 chr8 60571029 60571129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60585833 60585923 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60602744 60646693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 60614293 60617188 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 6070758 6081848 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 60803865 60804038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 60881315 60881415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 60931312 60931509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 60942000 70542000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr8 6095442 6099308 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 6099308 6101681 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 60999457 60999527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61005553 61006553 Loss Renal cell carcinoma References 21215367 chr8 61007900 61007992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61038310 61038470 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 61069435 62305346 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 61088031 61088107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 6109511 6109951 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 6109951 6110801 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 6110801 6111533 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 61152736 61152836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61158290 61173423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 61159104 61170328 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 61188044 61188144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61189844 61189921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 61263977 61356508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 61263977 61356508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 61263977 61356508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 61264064 61356508 Gain and loss Pancreatic cancer SNP array 17952125 chr8 61281448 62090838 LOH Normal High-resolution SNP genotyping 21211785 chr8 6133331 6134331 Loss Osteosarcoma References 21215367 chr8 6135587 6136587 Gain Osteosarcoma References 21215367 chr8 61367541 61367857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 61395962 119792244 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 614221 615393 Copy number Autism exome sequencing 22495311 chr8 61459231 61487656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 61462515 61463108 Gain and loss Pancreatic cancer SNP array 17952125 chr8 615102 615375 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 61526786 61526876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6154607 6891605 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 61558715 61558790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61592112 61696183 Gain or loss Breast cancer - 20668451 chr8 61592112 61696183 Gain or loss Cancer - 20668451 chr8 61592112 61696183 Gain or loss Lung cancer - 20668451 chr8 61592112 61696183 Gain or loss Ovarian cancer - 20668451 chr8 61592112 61696183 Gain or loss Pancreas cancer - 20668451 chr8 61592112 61696183 Gain or loss Prostate cancer - 20668451 chr8 61592113 61696183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 61592113 61696183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 61592113 61696183 Gain and loss Pancreatic cancer SNP array 17952125 chr8 61592113 61696183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 61592113 61696183 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr8 6160155 6160232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61615217 61615317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61622157 61624168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 61625095 61684562 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr8 61647964 61693487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6165710 6238342 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 61666115 61666160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61667829 62688450 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 61679601 61679701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61699235 61699335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61700000 62400000 Copy number Normal - 21701786 chr8 61743230 61789086 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 61753892 61942021 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 61753892 61942021 Deletion or duplication Charge syndrome MLPA, CopyDx, exon-level, CGHarray 20571795 chr8 61753893 61942017 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 61753893 61942017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 61753893 61942017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 61762324 61807112 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 61767019 61767158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 61772515 61772615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61780186 61857654 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 61816564 61856359 Gain and loss Pancreatic cancer SNP array 17952125 chr8 61837055 61866637 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 61837055 61908190 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 61843851 61892403 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 61854237 61893773 Duplication small cell lung cancer array-CGH 20016488 chr8 61859928 61930261 Copy number Lung cancer paired-end sequencing 18438408 chr8 61875549 61940239 Gain and loss Pancreatic cancer SNP array 17952125 chr8 61885537 61885601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61889215 61889310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61894363 61894453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61897359 68496159 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 61920000 80730000 Amplification Sezary syndrome Array-based CGH 18413736 chr8 61944348 62087778 Copy number Lung cancer paired-end sequencing 18438408 chr8 61950879 61950979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 61962520 61962615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 619901 620674 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 61999586 61999686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6200000 12700000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr8 6200000 12700000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 chr8 6200000 12700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 6200000 12700000 Copy number Crohn's disease Array CGH 16909382 chr8 6200000 12700000 Copy number Normal - 21701786 chr8 6200000 12700000 Copy number Psoriasis - 20663923 chr8 6200000 12700000 Copy number Psoriasis BLAST 20403174 chr8 6200000 12700000 Copy number Psoriasis real-time PCR 18848619 chr8 6200000 12700000 Copy number Psoriasis the higher-throughput Paralogue Ratio Test (PRT) 20663923 chr8 6200000 12700000 Copy number Squamous cell cancer Real-time PCR 19047905 chr8 6200000 12700000 Deletion Cancer HT-HGU133A Affymetrix chip 21129771 chr8 6200000 12700000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 chr8 6200000 12700000 Deletion Normal - 21701786 chr8 6200000 12700000 Deletion Normal - 21851588 chr8 6200000 12700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 6200000 12700000 Duplication Cardiac defect aCGH 21933911 chr8 6200000 12700000 Duplication Crohn's disease real-time PCR, paralogue ratio test (PRT) 20877625 chr8 6200000 12700000 Duplication Inflammatory disorder real-time PCR, paralogue ratio test (PRT) 20877625 chr8 6200000 12700000 Gain Barrett's adenocarcinoma FISH 18663352 chr8 6200000 12700000 Gain Psoriasis multiplex amplifiable probe hybridisation assay 18059266 chr8 6200000 12700000 High copy numbers Psoriasis - 20877625 chr8 6200000 12700000 Loss Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr8 6200000 12700000 Loss Colorectal cancer Copy Number Analyzer for Affymertix GeneChip Mapping arrays v2.0,Affymetrix Genotyping Console v2.1 21128281 chr8 6200000 12700000 Loss Mental retardation Array CGH 17847001 chr8 6200000 12700000 Loss Prostate cancer Human version 2.0 BAC arrays 17217626 chr8 6200000 12700000 Loss Schizophrenia Affymetrix 6.0 array 21399695 chr8 6200000 12700000 Low copy numbers Crohn's disease - 20877625 chr8 6200000 19000000 Deletion Colorectal cancer Human cDNA microarrays 17229543 chr8 6200000 19100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 6200000 23300000 Loss Prostate cancer Array CGH 16573809 chr8 6200000 27400000 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss qPCR and chromosome banding 20606397 chr8 6200000 27400000 Loss Prostate cancer Array CGH 16573809 chr8 6200000 36500000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr8 6200000 36500000 Loss Gastrointestinal stromal cancer Affymetrix human genome U133A arrays 19259404 chr8 6200000 38500000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr8 62101884 62428381 Copy number Lung cancer paired-end sequencing 18438408 chr8 62108069 62108216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 62108427 62108575 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 62114797 62114897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 62114924 65507573 LOH Normal High-resolution SNP genotyping 21211785 chr8 62118452 62119452 Gain Renal cell carcinoma References 21215367 chr8 62167850 63184484 LOH Normal High-resolution SNP genotyping 21211785 chr8 62190735 62195621 Gain and loss Pancreatic cancer SNP array 17952125 chr8 62196201 62200400 Deletion Glioma mate-paired sequence 20126413 chr8 62197914 62198436 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 62198000 71798000 Gain low-grade B-cell lymphoma tumor Array CGH 18367492 chr8 62198081 62342696 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 62249973 62249973 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 62262750 62289779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 62271415 62293476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 62274571 62292091 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 62277464 62278340 Gain and loss Pancreatic cancer SNP array 17952125 chr8 62277464 62278340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 62284515 62318559 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 62312900 62313041 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 62319328 62325327 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 62363093 62576756 Gain and loss Pancreatic cancer SNP array 17952125 chr8 62363103 62576758 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 62363104 62576756 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 62363104 62576756 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 62363104 62576756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 62384789 62384889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 62400000 66100000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 62400000 66100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 62408551 62408651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 62443414 62780394 Copy number Lung cancer paired-end sequencing 18438408 chr8 62457458 62502542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 62462604 62462698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 62467446 65668530 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-581K arrays 21546498 chr8 6248230 9674346 Loss Bladder cancer array-CGH 21909424 chr8 6248244 6314486 Loss Autism FISH 20685689 chr8 62513049 65355691 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 6251428 6252428 Gain Osteosarcoma References 21215367 chr8 6251528 6493434 Copy number Autism - 20685689 chr8 6251529 6493434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6251529 6493434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 62570000 143900000 Gain T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr8 62570472 63229771 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 62578373 62789556 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 62578374 62789556 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 62578374 62789560 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 62578374 62789672 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 62578374 62789672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 62607578 62607678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 62656824 62656924 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 62675414 62677984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 62706791 62707125 Gain and loss Pancreatic cancer SNP array 17952125 chr8 62706793 62707125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 62706798 62707125 Gain and loss Pancreatic cancer SNP array 17952125 chr8 62739838 62764899 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6275241 6290079 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 6276480 6540620 Gain and loss Pancreatic cancer SNP array 17952125 chr8 62794568 63283501 Copy number Lung cancer paired-end sequencing 18438408 chr8 62823166 64380024 LOH Normal High-resolution SNP genotyping 21211785 chr8 62839242 62839394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 62853304 63229771 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 62914752 62914852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 62920764 62920864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 62928256 62947590 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 62928256 62958511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 62934112 62947590 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 6294141 7394755 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 629524 670925 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6297119 6298119 Gain Cancer Human 24 color M-FISH 21215367 chr8 6297119 6298119 Gain Chordoma References 21215367 chr8 6298019 6330167 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 63090960 63091960 Gain Renal cell carcinoma References 21215367 chr8 63092698 63093009 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 63098544 63098644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6316818 6341678 Loss Autism LR 20531469 chr8 63197501 63202943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 63200745 63216818 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 63219498 63219881 Gain and loss Pancreatic cancer SNP array 17952125 chr8 63243710 63243795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 63246121 63247121 Gain Renal cell carcinoma References 21215367 chr8 63279992 63968588 LOH Normal High-resolution SNP genotyping 21211785 chr8 63299846 63363108 Copy number Lung cancer paired-end sequencing 18438408 chr8 63319962 64105151 LOH Normal High-resolution SNP genotyping 21211785 chr8 63324054 64066182 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 63324187 64008644 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 63324187 64008644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 63376794 63424839 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 63377904 63387781 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 63381081 63500868 Copy number Lung cancer paired-end sequencing 18438408 chr8 63419477 63421608 Loss Normal 244K array 17666407 chr8 63424515 63425515 Gain Renal cell carcinoma References 21215367 chr8 63444290 63486049 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 63447937 63779650 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 63447937 63779650 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 6347227 6408174 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6347227 6408174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6347601 6408170 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6347796 6348096 Gain Chordoma References 21215367 chr8 63491134 63491224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 63515044 63701051 Copy number Lung cancer paired-end sequencing 18438408 chr8 63515054 63566254 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 63541269 63574484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 63570777 63570877 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 63578821 63579121 Gain Renal cell carcinoma References 21215367 chr8 63584884 63585884 Loss Renal cell carcinoma References 21215367 chr8 63602392 63602692 Gain Renal cell carcinoma References 21215367 chr8 63613246 63614246 Loss Renal cell carcinoma References 21215367 chr8 63654652 63993625 Gain and loss Pancreatic cancer SNP array 17952125 chr8 63659251 63660251 Loss Renal cell carcinoma References 21215367 chr8 63661067 63662067 Loss Renal cell carcinoma References 21215367 chr8 63715121 63786434 Copy number Lung cancer paired-end sequencing 18438408 chr8 63768681 63768779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6377275 6377315 Loss or gain Normal 244K array 17666407 chr8 63801466 64033148 Copy number Lung cancer paired-end sequencing 18438408 chr8 638156 638190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 63832 47740040 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr8 63837716 65687993 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 63840620 63841620 Loss Renal cell carcinoma References 21215367 chr8 63876797 63876944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 63945347 63945859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 64048864 64079068 Copy number Lung cancer paired-end sequencing 18438408 chr8 64053059 64056961 Gain and loss Pancreatic cancer SNP array 17952125 chr8 64053310 64056863 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 64053377 64055662 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 64053377 64055662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64054641 64099506 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 64090192 64113940 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 64090193 64113940 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 64090195 64113965 Gain and loss Pancreatic cancer SNP array 17952125 chr8 64090197 64113940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 64090197 64113940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64090197 64113965 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 64093174 64281316 Copy number Lung cancer paired-end sequencing 18438408 chr8 64123641 64128447 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 64134924 64161152 Gain and loss Pancreatic cancer SNP array 17952125 chr8 64134926 64161152 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 64134926 64161152 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 64134926 64161152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64181206 64181278 Gain and loss Pancreatic cancer SNP array 17952125 chr8 64181206 64181278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64187697 64187797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64203816 64203966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64243674 64287900 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr8 64243675 64262863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64243675 64287900 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 64271262 64271357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64284220 64284308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64295596 64397428 Copy number Lung cancer paired-end sequencing 18438408 chr8 64307419 64307669 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 64309746 64310022 Gain and loss Pancreatic cancer SNP array 17952125 chr8 64309746 64310022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64309749 64310023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6436982 6437982 Gain Renal cell carcinoma References 21215367 chr8 64373744 66419562 LOH Normal High-resolution SNP genotyping 21211785 chr8 6439903 6440903 Loss Renal cell carcinoma References 21215367 chr8 64412601 119739971 Copy number Lung cancer paired-end sequencing 18438408 chr8 64415045 64416114 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6444435 6461745 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 64444572 64489084 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 64484177 64484575 Gain and loss Pancreatic cancer SNP array 17952125 chr8 64484177 64484633 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 64484177 64484633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64500018 64500118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64510226 65687993 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 64522050 64522149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64534127 64534202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64535564 64535664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64596913 64597013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64615200 65541614 LOH Normal High-resolution SNP genotyping 21211785 chr8 6461593 6462075 Gain and loss Pancreatic cancer SNP array 17952125 chr8 64658309 64658394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64684562 64684711 Gain and loss Pancreatic cancer SNP array 17952125 chr8 64684562 64684711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 64744240 64744540 Loss Renal cell carcinoma References 21215367 chr8 64779971 64780121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 64867151 64867208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6494155 6495155 Gain Osteosarcoma References 21215367 chr8 649638 867290 Gain aortic dissecting aneurysms Array-CGH 22263138 chr8 649638 867290 Gain Stenocardia MACArray Karyo 40K BAC-chips 21860640 chr8 649638 867290 Gain Vasospasm MACArray Karyo 40K BAC-chips 21860640 chr8 6500000 8060000 Copy number Cognitive impairment - 21505072 chr8 65045341 65045424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65082638 65082683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6515408 6516408 Gain Osteosarcoma References 21215367 chr8 65160495 65160595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65193784 65193884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65225931 65226111 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 652501 656400 Deletion Glioma mate-paired sequence 20126413 chr8 65254844 65255844 Gain Renal cell carcinoma References 21215367 chr8 65277352 65278352 Gain Renal cell carcinoma References 21215367 chr8 6534370 6534470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6534392 6678353 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 65344055 65344155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65349000 67543000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 chr8 65354366 66254869 Loss Autism qPCR 20531469 chr8 6537746 6537826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6538807 6571669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 65394946 65395046 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65401039 65417378 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 65405123 65435790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 65409526 65420045 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 65454260 65454368 Gain and loss Pancreatic cancer SNP array 17952125 chr8 65454260 65454368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 65483144 65483210 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 65497240 65497733 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 65503062 65503162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65507573 65555108 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 65514886 65514956 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6553286 6606427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6553286 6606427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6553596 6604592 Gain and loss Pancreatic cancer SNP array 17952125 chr8 65555108 66623815 LOH Normal High-resolution SNP genotyping 21211785 chr8 65611235 65611335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65632682 75230666 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 65649419 65656999 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 65652624 65652719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65655367 65658740 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 65655368 65658735 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 65655368 65658735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 65655368 65658735 Gain and loss Pancreatic cancer SNP array 17952125 chr8 65655368 65658735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 65671082 65873902 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 65671246 65873902 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 65671246 65873902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 65671246 65873902 Gain and loss Pancreatic cancer SNP array 17952125 chr8 65671246 65873902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 65701147 65746177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 65702748 65702848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6575238 6575558 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 65851857 65851957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65900291 65900380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 65922751 65936248 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 65992307 65993307 Loss Renal cell carcinoma References 21215367 chr8 6605471 6605739 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 66084082 66085082 Gain Renal cell carcinoma References 21215367 chr8 66084167 66085167 Gain Renal cell carcinoma References 21215367 chr8 66100000 68100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 66100000 68100000 Gain Multiple myeloma CGH, FISH 16461302 chr8 66100000 70600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 66100000 70600000 Loss Glioblastoma multiforme aCGH 21080181 chr8 66141137 66141237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 66144792 66144892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6615501 7035250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 6635591 6635730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 66433321 66434321 Loss Renal cell carcinoma References 21215367 chr8 66438322 66439322 Gain Renal cell carcinoma References 21215367 chr8 66447224 66448224 Gain Renal cell carcinoma References 21215367 chr8 6644897 7789182 Deletion Breast cancer FISH 17142309 chr8 66451200 66452200 Loss Renal cell carcinoma References 21215367 chr8 66452369 66452904 Gain and loss Pancreatic cancer SNP array 17952125 chr8 66452405 66452904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 66464443 68827910 LOH Normal High-resolution SNP genotyping 21211785 chr8 66473903 66474023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 66479937 66480237 Loss Renal cell carcinoma References 21215367 chr8 66481086 66482086 Gain Renal cell carcinoma References 21215367 chr8 66488637 66489637 Gain Renal cell carcinoma References 21215367 chr8 66488653 66489653 Loss Renal cell carcinoma References 21215367 chr8 66488655 66489655 Gain Renal cell carcinoma References 21215367 chr8 66498393 66499393 Loss Renal cell carcinoma References 21215367 chr8 66498808 66499108 Gain Renal cell carcinoma References 21215367 chr8 66509837 66510837 Loss Renal cell carcinoma References 21215367 chr8 66514690 66546451 Amplification Prostate cancer aCGH 22341455 chr8 66529146 66530146 Loss Renal cell carcinoma References 21215367 chr8 6653448 6680576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6653448 6680576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 66556887 66622797 Amplification Prostate cancer aCGH 22341455 chr8 6656129 6680447 Gain and loss Pancreatic cancer SNP array 17952125 chr8 66625095 67507850 LOH Normal High-resolution SNP genotyping 21211785 chr8 66626755 66646353 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 66629238 66630238 Gain Renal cell carcinoma References 21215367 chr8 66629904 66753754 Amplification Prostate cancer aCGH 22341455 chr8 66630504 66630604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 66630982 66646353 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 66630982 66783841 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 66631135 66632135 Loss Renal cell carcinoma References 21215367 chr8 66632089 67507850 LOH Normal High-resolution SNP genotyping 21211785 chr8 6663670 6663767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 66667515 66667607 Gain and loss Pancreatic cancer SNP array 17952125 chr8 66667518 66667607 Gain and loss Pancreatic cancer SNP array 17952125 chr8 66667520 66667609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6667546 6668546 Loss Renal cell carcinoma References 21215367 chr8 66677630 66708986 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 66677630 66708986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 66677630 66708986 Gain and loss Pancreatic cancer SNP array 17952125 chr8 66677630 66708986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6671885 6671985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 66719528 66785339 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 66719528 66785339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 66719528 66785339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 66719528 66785340 Gain and loss Pancreatic cancer SNP array 17952125 chr8 66791460 66791560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 66793537 66916853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 66793537 66916853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 66793867 66916297 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 6679725 6680289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 66810165 66820948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 66824538 66857499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 66844286 68541632 LOH Normal High-resolution SNP genotyping 21211785 chr8 66855940 66856040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 66919547 66919635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6692031 6692104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 66922046 66922901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 66933790 67012754 Amplification Prostate cancer aCGH 22341455 chr8 66936532 66936632 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 66948117 66948217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 67029785 67050627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 67039277 67087719 Amplification Prostate cancer aCGH 22341455 chr8 67088611 67090845 Amplification Prostate cancer aCGH 22341455 chr8 67096344 67175309 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 67096345 67175309 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67096345 67175309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67096345 67175309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67096349 67174920 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67100000 67200000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr8 67128213 67129213 Gain Chordoma References 21215367 chr8 6715511 6722939 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6715511 6722939 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6715511 6722939 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67187730 67187801 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67187730 67187801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6719130 6880128 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6719130 6880128 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6719130 7093758 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6719130 8024993 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6719130 8212456 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 67201685 67250274 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67201831 67250272 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 67201832 67250270 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67201832 67250270 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67201832 67250270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67224518 67224518 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr8 67251166 67253380 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67251172 67253252 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 67251191 67253400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67251191 67253400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67251191 67253400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67254232 67254332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 67262198 67262289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6727750 6727917 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 6727778 6727917 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 67326679 67326779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 67350635 67395291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 67402431 67402531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 67448093 146274826 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-589K arrays 21546498 chr8 67450806 67450906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6745878 6747393 Loss Normal 244K array 17666407 chr8 67503817 67505520 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67503817 67505520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67503817 67505520 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67503817 67505520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67503817 67505522 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 67507272 67543592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67507272 67543592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67507287 67543592 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67507288 67543596 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67521866 67566535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 67527076 67561603 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 67551628 68252014 Amplification Breast cancer FISH 17142309 chr8 67568321 67593293 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67568321 67593293 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67568321 67593293 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67568321 67593293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67575994 67576100 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67575994 67576100 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67602096 67602196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6761814 6762938 Loss Normal 244K array 17666407 chr8 67636968 67693680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67639486 67677314 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67639486 67693680 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67647945 67648045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 67676502 67688034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6769631 6771008 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6769631 6771008 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6769631 6771008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67703300 67742036 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67703300 67742036 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67703300 67742036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6770442 6770542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 67705041 67742006 Gain or loss Breast cancer - 20668451 chr8 67705041 67742006 Gain or loss Cancer - 20668451 chr8 67705041 67742006 Gain or loss Lung cancer - 20668451 chr8 67705041 67742006 Gain or loss Ovarian cancer - 20668451 chr8 67705041 67742006 Gain or loss Pancreas cancer - 20668451 chr8 67705041 67742006 Gain or loss Prostate cancer - 20668451 chr8 67705044 67742006 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6772459 6772543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 67728258 67728361 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67728258 67728363 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67728258 67728365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67742404 67936811 Gain or loss Breast cancer - 20668451 chr8 67742404 67936811 Gain or loss Cancer - 20668451 chr8 67742404 67936811 Gain or loss Lung cancer - 20668451 chr8 67742404 67936811 Gain or loss Ovarian cancer - 20668451 chr8 67742404 67936811 Gain or loss Pancreas cancer - 20668451 chr8 67742404 67936811 Gain or loss Prostate cancer - 20668451 chr8 67742407 67755921 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67751008 67935244 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67751008 67935244 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67751008 67935244 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67759987 67760087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6778281 6778582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 67783070 68102356 Amplification Glioblastoma multiforme Array CGH 19115005 chr8 67787445 67936800 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67787445 67936800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67787445 67936800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6780755 6783196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6780755 6783196 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6780755 6783196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67842186 67842794 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67842186 67842794 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67842186 67842794 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67842186 67842794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67846111 67865508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 67850016 67936809 Gain and loss Pancreatic cancer SNP array 17952125 chr8 67872554 67872628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 67894273 67928447 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 67945538 67976564 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 67945538 67976564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 67945538 67976564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67945538 67980152 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6795658 6796531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67997256 67997344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 67997263 67997338 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68000000 139900000 Gain Prostate cancer Array CGH 16461572 chr8 68000000 70500000 Amplification head and neck squamous cell carcinoma Human 1 cDNA microarray slides 16715129 chr8 6801529 6859834 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6801784 6862929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6802213 6847036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68036084 68036515 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 68036084 68036515 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68036084 68036515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6804221 6805093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6804531 6821155 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68058936 68060969 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68059741 68059821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 68062923 68103340 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68062925 68103340 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 68062925 68103340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 68062925 68103340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6807605 6862204 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68086561 68086762 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68100000 140000000 Copy number Breast cancer single-nucleus sequencing 21399628 chr8 68100000 70600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 68100000 70600000 Gain Ovarian cancer Affymetrix 20844748 chr8 68100000 74000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 68109495 95881160 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr8 68117868 68137125 Gain or loss Breast cancer - 20668451 chr8 68117868 68137125 Gain or loss Cancer - 20668451 chr8 68117868 68137125 Gain or loss Lung cancer - 20668451 chr8 68117868 68137125 Gain or loss Ovarian cancer - 20668451 chr8 68117868 68137125 Gain or loss Pancreas cancer - 20668451 chr8 68117868 68137125 Gain or loss Prostate cancer - 20668451 chr8 68117869 68137116 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 68117871 68137116 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 68117871 68137116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 68117871 68137116 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68117871 68137116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68122659 68123659 Loss Osteosarcoma References 21215367 chr8 6812572 6820897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6813073 6814045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6813245 6869017 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68133797 68134797 Gain Renal cell carcinoma References 21215367 chr8 6813487 6816346 Gain Normal 244K array 17666407 chr8 6813531 6867208 Gain or loss Normal aCGH 21627829 chr8 68137188 68137288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6813752 6815559 Loss Normal aCGH 21627829 chr8 68139157 68271048 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 68139157 68271048 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 68139157 68271048 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68139157 68271048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6814786 6847513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68155945 68156059 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 68155973 68155974 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 6817244 6860017 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68174092 68174181 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68174092 68174181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6822580 6825012 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr8 6822581 6825012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6823122 6823222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6824697 6900351 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr8 68272451 68418466 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 68272451 68418466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 68272451 68418466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68272466 68418217 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6827900 6829457 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6828365 6840527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6832110 6844117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6833023 6833184 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68333486 69283044 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 68343074 68444177 Gain aortic dissecting aneurysms Array-CGH 22263138 chr8 6835170 6856724 Copy number Behcet's disease duplex Taqman@real-time PCR assay 22219625 chr8 683990 684072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 68413789 68413889 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6841698 6844134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6841698 6844134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6843912 6866066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68440783 68440883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6844238 6845190 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6846814 6863959 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68481518 68924867 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 68496914 68821134 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68496963 68821134 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 68496963 68821134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 68496963 68821134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68498419 68499419 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr8 68501307 68565375 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 6851225 6852321 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68518798 68518898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 68556194 68557194 Intrachromosomal rearrangement small cell lung cancer array-CGH 20016488 chr8 68570331 68643687 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 68594220 68628110 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 6860805 6863226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6860805 6863226 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6860805 6863226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6860826 6879044 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 68623239 68623339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 68640729 68640965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 68643786 68643886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 68648931 108620415 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 68650251 68666719 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr8 68656233 68656299 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68656233 68656299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68656302 68656364 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68656302 68656364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68657499 68657563 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68657499 68657563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6865873 7721557 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 68660187 68660257 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68660187 68660257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68660258 68660316 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68660258 68660316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68660317 68660385 Gain and loss Pancreatic cancer SNP array 17952125 chr8 68660317 68660385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68697386 69283044 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 68708792 68716235 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 68710013 68712760 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 6873390 6875823 Copy number Crohn's disease Real-Time PCR 21701837 chr8 6873573 6874421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68762536 68762636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 68786421 68786512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68831362 68831422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6883503 6884371 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 68889875 68890206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 6890631 8102885 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6890631 8212456 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6891605 6998485 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 68935662 68935762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 68981612 68981795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6900239 6901669 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 6900239 6901669 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6900239 6901669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69005541 69033369 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 69006050 69033369 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 69018605 69018705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 69026907 69306451 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 69026907 69306451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 69026907 69306451 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69026907 69306451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69027156 69306451 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 69048506 69077898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 69085526 69086526 Gain Renal cell carcinoma References 21215367 chr8 69123614 69888450 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-582K arrays 21546498 chr8 6913533 6913604 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6913533 6913604 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69136742 69136774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6921156 7027251 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 6925767 8136675 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 69260432 69260922 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 69260471 69260882 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 6926461 8140199 Copy number Incontinentia Pigmenti Agilent SurePrint G10 one Million microarrays 22033527 chr8 6928012 7869452 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 69298108 69298219 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69298109 69298219 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69332480 69362988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 693434 6251529 Copy number Autism exome sequencing 22495311 chr8 6936559 7093758 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6936559 7328299 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6936559 7328299 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6936559 8024993 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6936559 8102885 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6936559 8212456 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 6936653 6937231 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69380995 69381350 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69381349 69381482 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69381349 69381482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69405511 69893810 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 69405511 69893810 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 69405511 69893810 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69405511 69893810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69406010 69893811 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 69435676 69435776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 694459 694552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 69490358 69506817 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 6950151 7237790 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 69546080 69546114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 6956600 6957600 Loss Chordoma References 21215367 chr8 6957246 6958660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69580222 69580543 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 69582185 69892123 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 69582185 72275725 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 69600306 69600695 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6960831 6960980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69612662 69612762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 69624571 69880919 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-588K arrays 21546498 chr8 69651909 69652049 Gain and loss Pancreatic cancer SNP array 17952125 chr8 6967184 8065804 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 6967789 6968636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69681901 69682901 Gain Chordoma References 21215367 chr8 69722663 69722963 Loss Chordoma References 21215367 chr8 69723165 69724165 Loss Chordoma References 21215367 chr8 69724087 69725087 Gain Chordoma References 21215367 chr8 69740119 69740682 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 69770442 69770521 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69770442 69770521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6979071 6983071 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr8 6979073 6982812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 69792080 69792148 Gain and loss Pancreatic cancer SNP array 17952125 chr8 69792080 69792148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 6982515 7380355 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 6986630 8145978 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr8 6993064 6993166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 69942324 69942444 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 69945067 69946067 Gain Chordoma References 21215367 chr8 69957063 69957363 Gain Chordoma References 21215367 chr8 69957213 69958213 Gain Cancer Human 24 color M-FISH 21215367 chr8 6997005 8000007 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 6998231 7003644 Loss Normal aCGH 21627829 chr8 6998278 7213834 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 6998278 7237778 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 6998278 7241689 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 6998278 7254763 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 6998278 7254763 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 6998278 7678917 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 69999367 70105914 Gain Normal 244K array 17666407 chr8 7000873 7995113 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7000873 7995113 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 7000873 8115834 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 70046 223973 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 70070765 71863153 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 70074049 70074148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 70107968 70108068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 70113797 70114754 Gain Normal 244K array 17666407 chr8 7011734 8095472 Copy number Normal Quantitative Real-Time PCR 17666543 chr8 7015482 7015673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7017388 7203153 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7017388 7213834 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 7213834 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 7237778 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 7241739 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 7242508 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7017388 7254763 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 7683725 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 7814028 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 7836249 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 7836249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7017388 7869452 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017388 8046602 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7017400 7242520 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7017400 7876184 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7017400 8129435 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 70177794 70177861 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70177794 70177861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70185301 70185364 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70204387 70205134 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70204458 70205134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70234894 70234968 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70234894 70234968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70243834 70243934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7027263 7242520 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7027263 7820606 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 70297449 70297516 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7030750 7673258 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7034708 8124868 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7035251 7143500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 7035833 7036495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70387687 70387787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7040596 7789996 Deletion Breast cancer Agilent Human Genome CGH 244k microarray platform 20369283 chr8 7040596 8140129 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr8 7040625 7790962 Loss or gain Normal 244K array 17666407 chr8 7043372 7043520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70436234 70436334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 704383 1521910 Gain Autism qPCR, Affy 500K(Marshall AJHG2008), Agilent 1M 20531469 chr8 7044319 8045663 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 70453843 70453937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7045688 7045789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7047741 7199840 Gain Normal aCGH 21627829 chr8 70487444 70487484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 70500000 146364022 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 70500000 86900000 Gain Prostate cancer Array CGH 16573809 chr8 70507136 70507218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 70520168 70520480 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 70522996 70523096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7053465 7461991 Gain Normal aCGH 21627829 chr8 70536958 70537258 Gain Renal cell carcinoma References 21215367 chr8 70541413 70735701 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 70541427 70735701 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 70541427 70735701 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 70541427 70735701 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70541427 70735701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70567637 70734836 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70600000 146274826 Gain Acute lymphoblastic leukemia array CGH 17690704 chr8 70600000 74000000 Amplification Prostate cancer - 21088497 chr8 70600000 74000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 70600000 74000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 70600000 78500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 70623792 70623892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 70652798 70652898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 70657533 70658533 Gain Osteosarcoma References 21215367 chr8 70697844 70697944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 70732452 70732535 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 70732452 70732535 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70741850 70776656 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 70747129 70909762 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 70747129 70909762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 70747129 70909762 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70747129 70909762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70764801 70765202 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70764801 70765202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70766873 70766973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 70775013 70775258 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70775013 70775258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70775013 70775333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70807060 70857490 Loss Normal 244K array 17666407 chr8 7083218 7083563 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7084394 7148340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 70892200 70892300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7089552 7102519 Copy number Normal Quantitative PCR 18989455 chr8 7089552 7102519 Gain Normal Quantitative PCR 18989455 chr8 7089552 7102519 Loss Normal Quantitative PCR 18989455 chr8 7090203 7148441 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 70908841 70908925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7091658 7093284 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7091658 7093284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70925937 70926211 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70925937 70926211 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7096651 7665900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 70981788 70981888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7098383 7145917 Gain or loss Normal aCGH 21627829 chr8 7099027 7099299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70997540 70997832 Gain and loss Pancreatic cancer SNP array 17952125 chr8 70997540 70997832 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 70997543 70997835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71000881 71007194 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 71001509 71035499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 71004694 71004811 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71004694 71004813 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71004694 71004813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71012957 71013189 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 7106650 7106922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71073527 71117376 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 71074227 71365981 Amplification or deletion Cancer Array CGH 17440070 chr8 71090280 71090380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7109458 7112468 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71126574 71146116 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 71126574 71146116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 71126574 71146116 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71126574 71146116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71135892 71135992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7114272 7114544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71144001 71147000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 71152685 71152821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71152698 71152821 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71178380 71478574 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 71178380 71478574 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71178582 71178968 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71181305 71211837 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 71186820 71478574 Copy number Lung cancer - 20668451 chr8 71186820 71478574 Gain or loss Breast cancer - 20668451 chr8 71186820 71478574 Gain or loss Cancer - 20668451 chr8 71186820 71478574 Gain or loss Lung cancer - 20668451 chr8 71186820 71478574 Gain or loss Ovarian cancer - 20668451 chr8 71186820 71478574 Gain or loss Pancreas cancer - 20668451 chr8 71186820 71478574 Gain or loss Prostate cancer - 20668451 chr8 71186821 71478574 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71192903 71237806 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7121628 7170092 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7121628 7170092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7124701 7127711 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr8 7125310 7200224 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71300000 117700000 In Colorectal cancer CGH 20709793 chr8 71300000 140000000 Amplification Esophageal squamous carcinoma CGH 21637470 chr8 71300000 146274826 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 chr8 71300000 146274826 Interstitial inverted duplication with associated terminal deletion Non-syndromic sensorineural hearing loss qPCR and chromosome banding 20606397 chr8 71300000 146274826 Loss Breast cancer Conventional CGH 17393978 chr8 71318717 71318817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7132324 7135886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7132324 7135886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71323787 71330548 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 71348163 71348363 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 71348163 71348363 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71348163 71348363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71351788 71396674 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 71360722 71468721 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 7139946 7142956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7139946 7142956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7141477 7869464 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7141477 8011033 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7141477 8039791 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7141477 8129435 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 71432136 71432235 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71432136 71432237 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71433342 71433442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7143501 7200500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 7146050 7187942 Gain Normal aCGH 21627829 chr8 71554981 71555276 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71554983 71555276 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7156823 7328299 Gain and loss Barrett's syndrome BAC array 19417022 chr8 7156826 7328299 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7156826 7328299 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7156826 8024993 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7156826 8024993 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7156826 8102885 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7156826 8102885 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7156826 8212456 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7156826 8212456 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7157778 7164883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7157884 7174042 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7157887 7213834 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7157887 7319167 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7157887 7814028 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7157887 7825083 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7157887 7825360 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7157887 7836249 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7157887 7836249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7157887 7847304 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 71579758 71579858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 71614179 71615045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 71648227 71683158 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 71648227 71683158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 71648227 71683158 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71648227 71683158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71648235 71649225 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 71648235 71649225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71648235 71649623 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71679321 71679421 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71679321 71679421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71712045 71743946 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 71712045 71743946 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 71712045 71743946 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71712045 71743946 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71712106 71713352 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr8 71729367 71729672 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71729367 71729672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71729369 71729672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7174030 7319167 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7174030 7327589 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7174030 7683725 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7174030 7683725 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7174042 7202021 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 71744154 71810730 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 71744154 71810730 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 71744154 71810730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71746110 71747197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 71746126 71747213 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 7175157 7188041 Gain Normal aCGH 21627829 chr8 71755848 71809213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71768265 71774730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7177319 7178911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7177319 7178911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71786375 71786578 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 71819547 71819999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 7182047 7183639 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7182047 7183639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71855703 71855797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 71855704 71855797 Gain and loss Pancreatic cancer SNP array 17952125 chr8 71855705 71855795 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7186758 7187874 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7187842 7342783 Gain or loss Normal aCGH 21627829 chr8 71914412 71914591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 71918501 71920000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 71957666 71957752 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 71986256 73285827 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 7200000 43200000 Gain Myxofibrosarcoma Array CGH 16751306 chr8 7200000 45200000 Copy number Immune disease Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr8 7200000 45200000 Gain Non-small cell lung cancer dChip 21829676 chr8 7200000 45200000 Gain Ovarian neoplasms AmpliOnc I, version 7.0 CGH 16753589 chr8 7200000 45200000 Microdeletion Kallmann Syndrome 2 aCGH 22470819 chr8 7200000 7800000 Copy number Cognitive impairment - 21505072 chr8 72013015 72013165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7202009 7213834 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7202009 7387726 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7202009 7387814 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7202009 7673246 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7202009 7675016 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7202009 7825360 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7202009 7836249 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7202009 7836249 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7202009 7836249 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7202021 7202929 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7202886 7230490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7202886 7230490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7202917 7836249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7202929 7209393 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 72030375 72030475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7203140 7864765 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7203153 7673081 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 72083508 72084508 Gain Renal cell carcinoma References 21215367 chr8 7209031 8065804 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7209031 8065804 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 7209031 8077761 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7209031 8115834 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7209381 7836249 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7209381 7847304 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7209393 7212778 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 72127355 72127455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7212766 7278442 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7212766 7836249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7212766 7847304 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7212766 7847304 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7212766 7973253 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7212778 7225313 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7213701 7836249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 72157502 72158502 Gain Renal cell carcinoma References 21215367 chr8 72173922 72174022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7218046 7222432 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7218046 7222432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 72206044 72206209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7221797 8115834 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 7221797 8124868 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7221797 8124868 Copy number loss Normal High-resolution SNP genotyping 21211785 chr8 7221797 8155481 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7222992 8106541 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr8 72245015 72265783 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7225313 7225429 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7225374 7869464 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7225418 7847288 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 7225429 7237789 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 72272221 72437021 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 72272222 72437021 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 72272222 72437021 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 72272222 72437021 Gain and loss Pancreatic cancer SNP array 17952125 chr8 72272222 72437021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 72290129 72290229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 72305679 72332204 Deletion Branchiootorenal syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr8 72336297 72337297 Loss Osteosarcoma References 21215367 chr8 72368611 72368966 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 72372751 73910715 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 72373291 72382416 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 7237354 7237443 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7237354 7237443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 72374735 72377865 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 72374735 72379141 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 72377298 72380364 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 72377348 72380194 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 72377348 72380194 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 72377373 72380559 Loss Normal 244K array 17666407 chr8 7237778 7322407 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7237778 7359643 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7237778 7670521 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7673246 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7678917 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7683725 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7237778 7683725 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7733659 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7813741 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7825131 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7825360 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7237778 7825360 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7825360 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7237778 7836249 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7237778 7836249 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7237778 7847304 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7237778 7847304 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7237778 7864765 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7237778 7869452 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 72377853 72379141 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 72377865 72379153 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 7237789 7237790 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7237790 7241701 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7237790 7836261 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 7237790 8109713 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 72378104 72380244 Loss Autism qPCR 20531469 chr8 72399219 72399445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 72399249 72399349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 72407015 72407115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7241689 7390453 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7241689 7673068 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7241689 7825131 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7241689 7980580 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7241701 7254775 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 72420145 72420245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7242446 7379782 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7242446 7380008 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7242446 7380355 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7242446 7670521 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7242446 7781462 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7242446 7825360 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7250969 7890333 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 72516680 72516780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 72524484 72524597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 725416 725581 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 7254763 7385955 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7670521 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7781462 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7783766 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7785097 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7254763 7808960 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7814028 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7825131 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7825360 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7825360 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7836249 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254763 7847304 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7254763 7847304 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7254775 7262162 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 72551135 72563211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 72559544 72568542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7256029 11898119 Deletion Developmental disorder Agilent human genome microarray kit 244K 20461109 chr8 7256029 11898119 Duplication Developmental disorder Agilent human genome microarray kit 245K 20461109 chr8 7256029 11898119 Duplication Developmental disorder Agilent human genome microarray kit 246K 20461109 chr8 72570285 72570356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 72577654 72577686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 725811 725878 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 72584098 72584182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7259579 7359643 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7259579 7390850 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7259579 7443422 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7259579 7775833 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7259579 7847304 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7259579 7847304 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7259788 7261795 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7259788 7261795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7259842 7791647 Copy number Crohn's disease Reference 17953491 chr8 7259842 7791647 Copy number Immune disease - 21076436 chr8 7259842 7791647 Deletion and duplication Crohn's disease References 21956041 chr8 7259842 7791647 Large repeat Psoriasis - 20663923 chr8 7261867 7263764 Copy number Normal 454 sequencing 21592371 chr8 7262162 7327245 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 72630552 72630611 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr8 72632955 143902698 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 72644566 72676967 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 72650358 72650458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 72713960 72714293 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 72718026 72763820 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 72725337 72758195 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 72725337 72763820 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 72727806 72758195 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7272903 7791922 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr8 7273828 7275280 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7273901 7275280 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7278317 7316611 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7278317 7683725 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7284738 7390850 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7284738 7390850 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7284738 7670521 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7284738 7670521 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7284738 7781462 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7284738 7825360 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7284738 7847304 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7284956 7385283 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 72854590 72854650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 72890282 72890414 Gain and loss Pancreatic cancer SNP array 17952125 chr8 72890282 72890415 Gain and loss Pancreatic cancer SNP array 17952125 chr8 72890283 72890414 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 72907393 72907477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7290970 8184214 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7290970 8186429 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7291135 7319167 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7291135 7359643 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 72916330 72919285 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr8 72916331 72919285 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 72916332 72919285 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 72916332 72919285 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 72916332 72919285 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 72916349 72919259 Gain and loss Pancreatic cancer SNP array 17952125 chr8 72917557 72923277 Loss Normal 244K array 17666407 chr8 7292685 7308602 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7292685 7758729 Large repeat Psoriasis - 20663923 chr8 7292686 7308602 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7292686 7308602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 72949037 72949290 Loss Normal 244K array 17666407 chr8 72954181 72954264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 72960567 72960640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73000365 73000568 Gain Normal 244K array 17666407 chr8 73001517 73001617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73001619 73001987 Loss Normal 244K array 17666407 chr8 73013815 73013915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73028509 73038854 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7302888 7302982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 73067029 73099636 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 73070234 73070334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73092898 73093898 Gain Renal cell carcinoma References 21215367 chr8 73096039 73150373 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 73096040 73150373 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 73096040 73150373 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 73096040 73150373 Gain and loss Pancreatic cancer SNP array 17952125 chr8 73096040 73150373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 73099263 73099755 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 7310013 8184214 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7310013 8186429 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7310851 7847304 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7310851 8092658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7315236 7320014 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7315236 7320014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7316611 7836249 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 73222480 73227225 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7322407 7791790 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7322407 7836249 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7322407 7869452 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 732400 766133 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 73241073 73241157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7327245 7327601 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7327435 7723985 Large repeat Psoriasis - 20663923 chr8 7327436 7331319 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7327436 7331319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7327494 7683725 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 7327601 7358888 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7330051 7342809 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 73314215 73314315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73320928 73327552 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 73323698 73433001 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 7332444 8124868 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7332649 7334483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7332652 7718770 Large repeat Psoriasis - 20663923 chr8 7332653 7334483 Gain and loss Pancreatic cancer SNP array 17952125 chr8 73338526 73338623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7337524 8184214 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 7340777 7710648 Large repeat Psoriasis - 20663923 chr8 7340778 7354243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7340878 7354143 Gain and loss Pancreatic cancer SNP array 17952125 chr8 73421789 73421857 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7342687 7352457 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr8 73431824 73431895 Gain and loss Pancreatic cancer SNP array 17952125 chr8 73432522 73432594 Gain and loss Pancreatic cancer SNP array 17952125 chr8 73432522 73432594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7343729 7345828 Gain and loss Pancreatic cancer SNP array 17952125 chr8 73449035 73449107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7346079 8184214 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 73467327 73467426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73504410 73504706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 73504410 73504770 Gain and loss Pancreatic cancer SNP array 17952125 chr8 73575630 73575730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7358876 7683725 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7358876 7825360 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7358888 7379669 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 73596603 73596668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73607217 76964085 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 73612179 74013138 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 73642524 74012880 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 73642524 74012880 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 73642524 74012880 Gain and loss Pancreatic cancer SNP array 17952125 chr8 73642524 74012880 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 73658722 73658818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73698538 73733627 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 73713237 73714237 Gain Renal cell carcinoma References 21215367 chr8 73713786 73730596 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 73725766 73725841 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 7372665 7814028 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7372665 7825360 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7372665 7847304 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7372665 7864765 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7372665 8092658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 73761080 73798026 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 73761886 73765191 Gain Normal 244K array 17666407 chr8 73765036 73765191 Gain Normal 244K array 17666407 chr8 7379657 7390453 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7379669 7379794 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7379794 7390862 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7380355 7814569 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7385283 7825083 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7385283 7836249 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7385283 7847304 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7385283 7869452 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7385283 8092658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7385627 7836249 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7385627 7847304 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 73877924 73878924 Loss Renal cell carcinoma References 21215367 chr8 73900000 106200000 Gain Bladder cancer Affymetrix GeneChip Mapping 10K 2.0 19088036 chr8 73900000 106200000 Gain Endometrioid adenocarcinoma CGH 16974079 chr8 73900000 146364022 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 chr8 73900000 146364022 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 73900000 146364022 Gain Prostate cancer Array CGH 16573809 chr8 73900000 78300000 Amplification Hepatocellular carcinoma Array CGH 16750200 chr8 73900000 78300000 Amplification Prostate cancer ABI 7000 Sequence Detection System real-time PCR 17016436 chr8 73900000 78300000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 chr8 73900000 84600000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr8 73905718 73932263 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 73906603 73910715 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr8 7390681 7814028 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7390681 7836249 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7390681 7847304 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7390681 7864765 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7390681 8092658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7390862 7665275 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7391815 7392249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7393001 7633500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 73930635 73979520 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 73935563 73960753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 73937380 73969199 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7393985 7396994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 73941595 73964088 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 73947230 73967854 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 73948201 73958300 Deletion Glioma mate-paired sequence 20126413 chr8 73948978 73986631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 73949240 73969103 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 73950320 73956377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 73955038 73955082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 73986299 73986586 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7399470 7399904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74000000 146274826 Gain High-grade prostatic intraepithelial neoplasia Array CGH 16573809 chr8 74000000 146274826 Gain Prostate cancer Array CGH 16573809 chr8 74000000 78500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 74000000 78500000 Loss Urothelial cell carcinoma FISH 18451213 chr8 74002719 74003719 Gain Renal cell carcinoma References 21215367 chr8 7401070 7406305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7401070 7406305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7401770 7418662 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74020476 74020576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74022975 74025232 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74034617 74692946 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 7407120 7407554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74078560 74078644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74083661 74121378 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74083661 74121378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74083670 74121753 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7409282 7412292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7409282 7412292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74093734 74093833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74093741 74093837 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74093741 74093837 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74094631 146274826 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-583K arrays 21546498 chr8 74110659 74110759 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74126967 74130392 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74141809 74198514 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74141809 74198514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 74141809 74198514 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74141809 74198514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74147163 74147431 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7414766 7415200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7416365 7421601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7416365 7421601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74188377 74204355 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 74203447 74203530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 74217996 74218096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7422415 7422849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7424014 7429245 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7424014 7429245 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7426336 7887198 Copy number Lung cancer paired-end sequencing 18438408 chr8 7427920 7428918 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 74283162 74283384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74283289 74283327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74295314 74340069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 74298968 74299021 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7430060 7430494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7433354 7437925 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74334389 104600167 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 74346496 75165868 LOH Normal High-resolution SNP genotyping 21211785 chr8 74365073 74375857 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74365073 74375857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74365433 74368423 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7436938 7437848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74369891 74399345 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74369891 74399345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 74369891 74399345 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74369891 74399345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74491331 74491431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74495159 74822497 Copy number Breast cancer Univariate Analysis 17375183 chr8 74495159 74822497 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 74495160 74821629 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74495160 74821629 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 74495160 74821629 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74495160 74821629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74503560 74503660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74523517 74528012 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74523517 74528012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 74523517 74528012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74551254 74561069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 74561449 74561607 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 74725802 74726549 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74725802 74726579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74727058 74821629 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74745432 74745521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74750487 74750587 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 74754218 74913326 Gain and loss Barrett's syndrome BAC array 19417022 chr8 74770151 74770237 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 74795272 74795600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 74865396 74923937 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 74865396 74953664 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74867748 74923937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74908562 74908831 Gain and loss Pancreatic cancer SNP array 17952125 chr8 74908562 74908831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74908564 74908831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 74950316 74950412 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 74962 429100 Copy number Normal Quantitative Real-Time PCR 17666543 chr8 75019927 75046956 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 75019927 75047076 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75021184 75046959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75021188 75046900 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 75050984 75057565 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 75050984 75057565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 75050984 75057565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75050998 75057572 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75054573 75054666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75054575 75054666 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75054576 75054666 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75059282 75059674 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75059282 75059674 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75061481 75094342 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 75066141 75103859 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 75066141 75103859 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 75066141 75103859 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75066141 75103859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75111568 75111668 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75122245 75123245 Loss Renal cell carcinoma References 21215367 chr8 75123466 75123569 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75123466 75123573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75154326 75154428 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75154326 75154432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75230666 75457665 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 75254611 75254671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75309492 75396117 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 75309493 75396117 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 75309493 75396117 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 75309493 75396117 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 75309493 75396117 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75309495 75396117 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75336992 75337092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75425172 75441890 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 chr8 75425172 75441890 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 75425173 75441888 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 75425173 75441888 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 75425173 75441888 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75425248 75439157 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75451477 75451581 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75451477 75451583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75465428 75465524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75467458 75509675 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 75467736 75500328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 75470433 75471433 Loss Renal cell carcinoma References 21215367 chr8 75473988 75492635 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 75519005 75559453 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 75519009 75541362 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 75521023 75529715 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 75523501 75531400 Deletion Glioma mate-paired sequence 20126413 chr8 75525426 75529515 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 75527230 75527330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75569321 75569416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75572423 75572523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75599918 75600068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75648437 75648537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75723720 75723907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7574918 7575975 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7575048 7575048 Copy number Parkinson disease PennCNV and QuantiSNP 21829596 chr8 75762684 75762784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75778561 75778661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75799016 76382748 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 75822444 75822544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75843373 75843472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75899326 75929819 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 75899327 75929819 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 75899327 75929819 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 75899327 75929819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 75899327 75929819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 75899576 75924215 Gain and loss Pancreatic cancer SNP array 17952125 chr8 75912980 75913077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75939662 75939762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75941294 75941382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75955178 75955262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 75982355 78287079 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 chr8 7600203 7601823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76033673 76033725 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 76038201 76041700 Deletion Glioma mate-paired sequence 20126413 chr8 76039494 76039819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 76059530 76109350 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 76059530 76109350 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr8 76059531 76109346 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 76059531 76109346 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 76059531 76109346 Gain and loss Pancreatic cancer SNP array 17952125 chr8 76059531 76109346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7607567 7607839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7610375 7613385 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7610375 7613385 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76146158 76146258 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7615189 7615461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76161175 76161272 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7619494 7931652 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 7622837 7623109 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76256738 76256832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 76273488 76273588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 76289444 76289767 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 76300690 76300746 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 76300690 76300746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 7630485 7630757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7633501 7837750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 7636808 7660104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 76372369 76372469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7638132 7638404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76384607 76384907 Loss Renal cell carcinoma References 21215367 chr8 76386836 146274826 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-590K arrays 21546498 chr8 7645780 7646052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76461693 86722738 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 7647641 7704556 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 76482732 76641600 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 76482732 76641600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 76482732 76641600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76482737 76641616 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 76482826 76641614 Gain and loss Pancreatic cancer SNP array 17952125 chr8 76482826 76641614 Gain Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr8 7653428 7653700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76576602 76576706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 76585803 76585878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 76601782 76601882 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7661077 7661349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7661371 7662720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7662111 7680509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7662979 7680653 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7663128 7665800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7665275 7674707 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7665901 8146600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 7668733 7669005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 76694654 76694754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7669557 7797026 Loss Normal aCGH 21627829 chr8 7669762 7904302 Gain Normal aCGH 21627829 chr8 7670476 7825083 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7670476 7847304 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 76722271 76722371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7673036 7825083 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7673036 7996968 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7674707 7683737 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 76750434 77814729 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 76776343 76821235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7683725 7881983 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7683737 7733671 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 76849619 77057229 Gain Normal 244K array 17666407 chr8 76861155 76861250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 769124 2781895 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 chr8 76932778 76933334 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 76939031 76939063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 76967602 76967694 Gain and loss Pancreatic cancer SNP array 17952125 chr8 76967602 76967694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7697025 7824995 Loss Normal aCGH 21627829 chr8 76975627 77516900 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-618K arrays 21546498 chr8 77003355 77003815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 77060100 79804461 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 7706652 7710648 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7706652 7710648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7706752 7710548 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7709141 7735365 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 77136608 77136708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7716940 7718770 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7716940 7718774 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7716940 7718774 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7720104 7723985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7720104 7723985 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7720104 7723985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 77211077 77211212 Gain and loss Pancreatic cancer SNP array 17952125 chr8 77211077 77211212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 77220289 77220359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7722569 7862391 Loss Normal aCGH 21627829 chr8 77226464 77766239 Microdeletion Intellectual disability FISH 21802062 chr8 7731403 7736178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7731403 7736178 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7731403 7736178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7733659 7814569 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7733659 7847304 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7733659 7847304 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7733671 7775845 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 77340333 77340522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 77340336 77340522 Gain and loss Pancreatic cancer SNP array 17952125 chr8 77346854 77346946 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 77373235 77373320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7737442 7737601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 77378411 77378535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 77400000 92600000 Loss Normal Human genome CGH 50k ARRAY PLATFORM 22144094 chr8 7742812 7758728 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7742812 7758728 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7742812 7758728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 77444977 77445077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 77466649 77466709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7748429 7748523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 77498001 77502800 Deletion Glioma mate-paired sequence 20126413 chr8 77499937 77500981 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 77499941 77500985 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 7752198 7754236 Copy number Systemic lupus erythematosus ABI 3130xl Genetic Analyzer 22302058 chr8 77590504 77590571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 77605380 77605480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 77617867 77617910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 77625419 77625519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 77643686 79802767 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chr8 77643686 79802767 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr8 77650154 77650254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 77701746 77701846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 77756069 77942076 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 77756078 77942076 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 77756078 77942076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7775845 7781474 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7776135 7777590 Large repeat Psoriasis - 20663923 chr8 7776136 7777515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7776136 7777515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7776136 7777588 Gain and loss Pancreatic cancer SNP array 17952125 chr8 77778835 77939356 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 77778835 77939356 Gain and loss Pancreatic cancer SNP array 17952125 chr8 77806023 81210174 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 7781474 7789553 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 77825345 77825445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7785929 7787496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 77866963 77867063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7787643 7789537 Copy number Normal 454 sequencing 21592371 chr8 7789446 7836249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7789553 7808972 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7789609 7791647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7789609 7791647 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7789609 7791647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 78055048 78075079 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 78055051 78075079 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 78055051 78075079 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 78055051 78075079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 78057713 78074880 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7808972 7814402 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7813536 7814569 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 7814326 7814415 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7814326 7814415 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7814390 7825266 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7814390 7825360 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7814402 7820572 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 78172145 78172245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7820560 7847304 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7820560 7869452 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7820572 7825372 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7821269 7847345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7821269 7847345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 78224963 78225010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7825180 8015585 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7825372 7836261 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 78287665 78288797 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 78322432 78322532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 78324898 78325898 Loss Renal cell carcinoma References 21215367 chr8 78335457 78335557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7836156 7973253 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7836261 7836262 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7836262 7836800 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7836800 7847316 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 7837751 8027500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 78418330 78418430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 78449743 78449843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 78461441 78462441 Gain Renal cell carcinoma References 21215367 chr8 7847289 8027692 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7847316 7869464 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 78500000 80300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 78506892 78506992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 78544176 78544277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 78620298 78620383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7864320 8010044 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 7864765 7999857 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr8 7869464 7875953 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 7871325 7872917 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7871325 7872917 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7871325 7872917 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7873151 8024993 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7875953 7891704 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 78763499 78763584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 78848105 84001093 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr8 7885347 7892453 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7885347 7892453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 78889410 78922903 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7891704 7891705 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 7891705 7903572 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 78918625 78918925 Gain Renal cell carcinoma References 21215367 chr8 79028009 84510629 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr8 7903200 8046602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7903560 8046602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7903560 8092658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7903572 7973265 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 7907274 7910284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 79073042 79107254 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 79081340 79081395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7913216 7920737 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7914368 7917930 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7914368 7917930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7914444 7915203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 7914912 7937879 Gain Normal Quantitative PCR 18989455 chr8 7914912 7937879 Loss Normal Quantitative PCR 18989455 chr8 7915207 7915572 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 79164192 79485682 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 79170737 137147971 Triplication Acute myeloid leukemia - 21251322 chr8 79189173 79189236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7922568 7925578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 7922568 7925578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 79232870 79232959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 7931346 7935917 Gain and loss Pancreatic cancer SNP array 17952125 chr8 79313958 79314062 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 79319378 79364575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 79340735 79350317 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 7942417 8344153 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 7943851 7944196 Gain and loss Pancreatic cancer SNP array 17952125 chr8 79447188 79447270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 79473305 79473411 Gain and loss Pancreatic cancer SNP array 17952125 chr8 79473305 79473411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 79520090 79520190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 79573687 79573787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 79590890 79678040 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 79590891 79678040 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 79590891 79678040 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 79590891 79678040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 79673149 79677995 Gain and loss Pancreatic cancer SNP array 17952125 chr8 7973253 8015585 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7973253 8046602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7973253 8092658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7973253 8140229 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7973265 7986900 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr8 79740884 79792490 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 79740885 79792489 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 79740885 79792489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 79740885 79792489 Gain and loss Pancreatic cancer SNP array 17952125 chr8 79740885 79792489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 79753603 79754603 Loss Renal cell carcinoma References 21215367 chr8 79754150 79754300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 79764491 79765491 Loss Renal cell carcinoma References 21215367 chr8 79784591 80066417 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-598K arrays 21546498 chr8 79784789 79950902 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 79800154 79800232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 79807559 79880313 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 79807564 79880313 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 79807564 79880313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 79807564 79880313 Gain and loss Pancreatic cancer SNP array 17952125 chr8 79807564 79880313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7980806 8092658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 79814465 79814565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 79816700 114005299 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 7982049 8185108 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr8 79835165 79837221 Gain and loss Pancreatic cancer SNP array 17952125 chr8 79835393 79837126 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 79835393 79837126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7983873 7984021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 7986630 8011021 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7986630 8092658 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7986630 8150968 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 7986900 8055448 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 79910315 79913243 Loss Normal 244K array 17666407 chr8 79933435 79959211 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 79953976 79954047 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 79976578 79976678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 79977663 119646159 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 8000000 11800000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr8 80009473 80009573 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 80015768 80026530 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 8003587 8046602 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 8003587 8183409 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 80100000 84600000 Copy number Breast cancer Real-time reverse transcription-PCR 18698023 chr8 80255822 80255858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 80283311 80284311 Loss Osteosarcoma References 21215367 chr8 80300000 84900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 80300000 84900000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr8 80300000 84900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 80300000 84900000 Gain Multiple myeloma CGH, FISH 16461302 chr8 80300000 84900000 Gain Prostate cancer Human version 2.0 BAC arrays 17217626 chr8 80300000 84900000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr8 80300000 84900000 Loss Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 80300000 84900000 Microdeletion Immune disease - 21076436 chr8 80300000 84900000 Microdeletion Immune disease Affymetrix Genome-Wide Human SNP Array 6.0 platform 21042300 chr8 80300000 99100000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr8 8033760 8033862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 80341152 80341243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 80372296 80372396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8039771 8183409 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 80403401 83009300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 80450819 80474087 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 8046603 8124553 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 80466346 80466548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 80531530 80563202 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 8055434 8183409 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr8 80584243 80584393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 80660000 82550000 Amplification Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr8 80660427 81210174 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 80685869 80739779 Gain and loss Pancreatic cancer SNP array 17952125 chr8 80685916 80740868 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 80685916 80740868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 80685916 80740868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 80700000 82700000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr8 80742642 80742742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 80805057 80805123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 808128 1326327 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 80838799 80842653 Gain or loss Breast cancer - 20668451 chr8 80838799 80842653 Gain or loss Cancer - 20668451 chr8 80838799 80842653 Gain or loss Lung cancer - 20668451 chr8 80838799 80842653 Gain or loss Ovarian cancer - 20668451 chr8 80838799 80842653 Gain or loss Pancreas cancer - 20668451 chr8 80838799 80842653 Gain or loss Prostate cancer - 20668451 chr8 80838801 80842560 Gain and loss Pancreatic cancer SNP array 17952125 chr8 80838801 80842653 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 80838801 80842653 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 80838801 80842653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 80852696 80868559 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 80862614 80896977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 80874923 80874986 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8092658 8210370 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 80931240 80931340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 80958342 80958442 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8096209 8096802 Gain and loss Pancreatic cancer SNP array 17952125 chr8 80993649 81246391 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 80993649 81246391 Gain or loss Breast cancer - 20668451 chr8 80993649 81246391 Gain or loss Cancer - 20668451 chr8 80993649 81246391 Gain or loss Lung cancer - 20668451 chr8 80993649 81246391 Gain or loss Ovarian cancer - 20668451 chr8 80993649 81246391 Gain or loss Pancreas cancer - 20668451 chr8 80993649 81246391 Gain or loss Prostate cancer - 20668451 chr8 80993651 81105061 Gain and loss Pancreatic cancer SNP array 17952125 chr8 80993653 81105061 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 80993653 81105061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 80993653 81105061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81032872 81032972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 81033892 81033969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8110060 8125059 Loss Normal TaqMan assays 20972442 chr8 81109662 81155565 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 81109662 81155565 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 81109662 81155565 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81112906 81246425 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81117148 81117248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8113001 8136000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 81176493 81233922 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 81208515 81208907 Gain Normal 244K array 17666407 chr8 8123537 8132176 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8123537 8132176 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81242335 81979194 Amplification Cancer Affymetrix 250K Sty array 20164920 chr8 81245042 81245112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8124555 12286873 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr8 81247021 81248021 Gain Renal cell carcinoma References 21215367 chr8 81273929 81274229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 81279396 81279688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81279396 81279692 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81279396 81279692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 8128420 8184214 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr8 8128420 8184214 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 8129014 11997528 Copy number Lung cancer paired-end sequencing 18438408 chr8 8130593 8261675 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 81344346 81345635 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 8135301 8139794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 8135633 8136076 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81375668 81376271 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81375668 81376271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81382437 81382517 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 81391729 81391859 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81391729 81391859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 8140070 11897978 Deletion Glioblastoma multiforme 244K oligo array 21138945 chr8 8142627 19094703 Substitutions and indels small cell lung cancer array-CGH 20016488 chr8 8145164 8183409 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 81490029 81490329 Loss Renal cell carcinoma References 21215367 chr8 81501047 81545836 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 81559381 81559473 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81560408 81597165 Gain or loss Breast cancer - 20668451 chr8 81560408 81597165 Gain or loss Cancer - 20668451 chr8 81560408 81597165 Gain or loss Lung cancer - 20668451 chr8 81560408 81597165 Gain or loss Ovarian cancer - 20668451 chr8 81560408 81597165 Gain or loss Pancreas cancer - 20668451 chr8 81560408 81597165 Gain or loss Prostate cancer - 20668451 chr8 81560574 81595322 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 81560574 81597165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 81560574 81597165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81588914 146274826 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-592K arrays 21546498 chr8 8160867 9437099 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 81633198 81634547 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 81633198 81634547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81633583 81634613 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81635356 81635416 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8163610 12308863 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 8164047 8182933 Both Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr8 81660375 81660563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81660375 81660571 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81660378 81660562 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81688328 81688608 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81688328 81688608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81688334 81688616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81713323 81949571 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 81713324 81949571 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 81713324 81949571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 81713324 81949571 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81713324 81949571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81798869 81798969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8180953 9401557 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 81824351 81824483 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81824351 81824483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81851454 81851752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81851456 81851752 Gain and loss Pancreatic cancer SNP array 17952125 chr8 81851456 81851752 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 81875944 81876034 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 81897963 81898063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8194558 8194623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8196376 8196445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 81970352 81971352 Gain Renal cell carcinoma References 21215367 chr8 81986218 81986303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 82042600 82186858 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 82042605 82186858 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82042605 82186858 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82042605 82186858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82045082 82050570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82045293 82045694 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82048970 82104809 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82103295 82103383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8212676 8276599 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8212676 8276667 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 8212676 8276667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82184290 82184375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 82193371 82193426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 82205701 82211000 Deletion Glioma mate-paired sequence 20126413 chr8 82206308 83712909 LOH Normal High-resolution SNP genotyping 21211785 chr8 82207574 82208753 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 82207574 82209173 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 82207879 82209012 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 82207940 82208240 Gain Renal cell carcinoma References 21215367 chr8 82208760 82209137 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 82283446 82284446 Gain Renal cell carcinoma References 21215367 chr8 82286909 82287006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 823198 1074890 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82355325 82359567 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82355326 82359561 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82355326 82359567 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82355326 82359567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82379919 82380019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 82409215 82409314 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 82445973 82479832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 82515118 82522274 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 82515121 82522274 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82515121 82522274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82515121 82522274 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82515121 82522274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82530813 82531901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 82533172 82536313 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 82533173 82536313 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82533173 82536313 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82533173 82536313 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82553286 82558028 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 82553484 82558023 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82553484 82558023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82553484 82558023 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82553484 82558023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82577091 82577223 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82586890 82618821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 82596349 82597221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82596349 82597221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82596491 82597122 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82599835 82606105 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 82599836 82606105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82599836 82606105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82599863 82606105 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82599863 82606105 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8267345 8269930 Loss Normal 244K array 17666407 chr8 82681270 82714133 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 82700847 82705924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82701680 82701739 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82701680 82701739 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82707992 83213138 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 82707992 85054821 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 82709329 82710329 Gain Renal cell carcinoma References 21215367 chr8 82732751 82761115 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82732751 82761115 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82732751 82761115 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82732751 82761115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82734500 82734600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 82768446 82769762 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82768446 82769762 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82768446 82769762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82773661 82773717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 82776513 82796085 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82776513 82796085 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82776513 82796090 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82776513 82796090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82807243 82834305 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82807243 82834305 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82807243 82834305 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82807280 82834298 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8282478 8282553 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 8282479 8282550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 8284466 8286644 Gain Normal 244K array 17666407 chr8 82874375 82916990 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82874377 82916990 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 82874377 82916990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82874377 82916990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82882553 82883523 Gain and loss Pancreatic cancer SNP array 17952125 chr8 82882562 82883523 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 82882562 82883523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 82889873 82935384 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 82918184 82918284 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 82929090 82929190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 82962170 82962260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8306854 8341730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 83074792 83074892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83137644 83143216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 83158414 83158514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83167789 83168232 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 8323711 8328241 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 8323769 8328247 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 8324455 8328763 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 8324455 8328767 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 8324675 8327544 Loss Normal 244K array 17666407 chr8 83295721 83329756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 83299138 83299238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83311297 85054821 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 83355282 83357609 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr8 83357601 83361500 Deletion Glioma mate-paired sequence 20126413 chr8 83366414 83367172 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 83366414 83367172 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 83366414 83367172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 83366844 83366944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83423871 83480089 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 83438444 83480089 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 83438746 83438846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83457336 83480089 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 83457336 83480372 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 83489145 83705565 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 83518639 86054215 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 8355227 8487828 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr8 83566956 83567056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83569261 83590469 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 83632829 83632929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83740396 83740496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83740729 83740857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83743128 146274826 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-607K arrays 21546498 chr8 83756 2175251 Copy number Lung cancer paired-end sequencing 18438408 chr8 83771012 83771112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83885263 83885363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83919347 83919447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 83970000 97200000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 chr8 84003450 84003482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84069743 84070743 Gain Osteosarcoma References 21215367 chr8 84078541 84079541 Loss Renal cell carcinoma References 21215367 chr8 84096378 84096678 Gain Renal cell carcinoma References 21215367 chr8 84104510 84105510 Loss Renal cell carcinoma References 21215367 chr8 84107683 84107738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84121444 84121744 Loss Renal cell carcinoma References 21215367 chr8 84207453 84207553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8421501 8426100 Deletion Glioma mate-paired sequence 20126413 chr8 8423441 8424353 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 8423548 8423840 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 84245114 84245214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84249978 84261409 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 84295183 84313082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 8431724 8431756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84335602 84571280 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-587K arrays 21546498 chr8 84459504 84459651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 84476486 84476586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84505221 84506221 Gain Renal cell carcinoma References 21215367 chr8 84512322 84512394 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 8451973 8478066 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 84521930 84521975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84528700 84529700 Loss Osteosarcoma References 21215367 chr8 84569675 84569675 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 chr8 84569675 84569675 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr8 84587094 84587187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84600000 86900000 Gain Acute monocytic leukemia BioPrime Array CGH 16498392 chr8 84666 2158574 Copy number Lung cancer paired-end sequencing 18438408 chr8 84728935 84729035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8477272 8477575 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8477274 8477575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 84796563 84797563 Loss Renal cell carcinoma References 21215367 chr8 84869401 84869501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84900000 87200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 84900000 87200000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr8 84900000 87200000 Gain Multiple myeloma CGH, FISH 16461302 chr8 8490799 8562126 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 84910720 84910820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84918688 84918788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 84925287 84926287 Gain Osteosarcoma References 21215367 chr8 85020322 88388623 Loss Autism - 20841430 chr8 85073583 85106022 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 85085943 85086043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85088312 85096942 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 85107671 85107771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85121928 85122110 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 85190706 85416568 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 85190706 86016797 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 85191763 85191863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85281144 85281244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85322022 85325130 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 85370793 85370878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 85383858 85383958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85385543 85385876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 85419205 85434430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 85420095 85430101 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr8 85420514 85431209 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 85423494 85431722 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 85423522 85431724 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 85425426 85431209 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 85425438 85431221 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 85425438 85433404 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 85437032 85437271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85437144 85437244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85437272 85437372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85437279 85437464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85484560 85528233 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr8 85587391 85594487 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 85597334 85599816 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 85604112 85963979 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 85604112 85973388 Gain and loss Pancreatic cancer SNP array 17952125 chr8 85608693 85608753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 85614699 85615103 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr8 85657211 85766392 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 85740549 85740655 Gain and loss Pancreatic cancer SNP array 17952125 chr8 85740549 85740655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 85742683 85743683 Loss Renal cell carcinoma References 21215367 chr8 8577230 8577330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8577248 8764567 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 85799293 85832288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 8584258 9018773 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 8584520 8624542 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr8 85848430 85849430 Gain Renal cell carcinoma References 21215367 chr8 85945618 86651112 LOH Normal High-resolution SNP genotyping 21211785 chr8 8597319 8598197 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8597319 8598197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 85994610 85994695 Gain and loss Pancreatic cancer SNP array 17952125 chr8 85994610 85994695 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86012781 86012830 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 86023628 86023931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86064184 146236298 Duplication lymphocytic leukemia Signature Chip whole genome 21291569 chr8 86067202 86072201 Loss Normal TaqMan assays 20972442 chr8 86148390 86148439 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 86156449 86156498 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 86190202 86196201 Loss Normal TaqMan assays 20972442 chr8 8619070 8625956 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 8620448 8626449 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 86206628 86245566 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 86206629 86245562 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 86206629 86245562 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86206702 86245564 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86276871 86314003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 86276871 86314003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86276874 86314002 Gain and loss Pancreatic cancer SNP array 17952125 chr8 862890 862979 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 86316644 86319820 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86316756 86319855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 86316756 86319855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86320096 86548526 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 86323601 86475400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 86345259 86383554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 86345259 86383554 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86345259 86383554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86353971 86354071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 86381605 86431631 Copy number gain Normal High-resolution SNP genotyping 21211785 chr8 86415525 86415611 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr8 86427709 86451265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 86427709 86451265 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86427709 86451265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86427709 86477648 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 86431631 87753478 LOH Normal High-resolution SNP genotyping 21211785 chr8 8647493 8647593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 86475401 87436800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 86486800 88506340 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 86537710 86548526 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 86537710 86548526 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86537710 86548526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86563382 86580973 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 86563383 86580973 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 86563383 86580973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86563498 86580973 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86571587 86572587 Gain Osteosarcoma References 21215367 chr8 8658807 8658907 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 86592730 86763703 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 86592730 86955528 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 86592730 86955528 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 86592730 87124169 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 86682938 86688867 Loss Normal 244K array 17666407 chr8 86726773 86744665 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 86740331 86747595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86742206 86743162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86742679 86746021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86743869 86955528 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 86744550 86746013 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86745433 86748944 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86747080 86748851 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86748451 86752173 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 8674845 8674945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 86749175 86752060 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86751447 86760428 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86752360 86760422 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86753787 86753849 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86753787 86753849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86754114 86755070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86754165 86909912 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86758825 86759743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86760951 86761907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 8679408 8788541 Copy number Gastric cancer Human cDNA microarrays 17229543 chr8 8679409 8788541 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 8679409 8788541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 8680942 8787978 Gain and loss Pancreatic cancer SNP array 17952125 chr8 86859937 86860893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86860499 86935353 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86862557 86872446 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86866244 86867064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86867402 86869574 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86867463 86871701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86869810 86870519 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86871247 86932655 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86871492 86872366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86872128 86873084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86880243 86883305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86880258 86883571 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86883439 86925121 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86883811 86907789 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86884264 86919765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86884283 86885361 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr8 86884318 86885274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86884371 86889095 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86884971 86886806 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86885961 86887300 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86888680 86893765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86889386 86893035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86893399 86895174 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86894705 86894805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 86894833 86916952 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86895485 86922101 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86896232 86897188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86896630 86899755 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 86898422 86955420 Gain or loss Normal fluorescence in situ hybridization (FISH) 21208402 chr8 86900000 101600000 Amplification head and neck squamous cell carcinoma qReal-Time PCR 19451471 chr8 86900000 106200000 Gain Basal cell lymphoma CGH 17170743 chr8 86900000 106200000 Gain Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr8 86900000 93300000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr8 86900000 99000000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 chr8 86908422 86909378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 86921826 86921926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87003917 87004917 Loss Chordoma References 21215367 chr8 87016858 87016958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87018123 87019123 Gain Chordoma References 21215367 chr8 87054213 87759864 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 87079426 87079639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87079516 87079636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87098164 87098471 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87111138 87166453 Amplification Prostate cancer aCGH 22341455 chr8 87129718 87151042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 87129718 87151042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87129807 87150967 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87136222 87222795 Copy number Rett syndrome References 21593744 chr8 87136222 87222795 Duplication Rett syndrome References 21593744 chr8 87168841 87169925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 87180249 87235573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 87180249 87235573 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87180249 87235573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87186559 87187559 Gain Renal cell carcinoma References 21215367 chr8 87195716 87196016 Gain Renal cell carcinoma References 21215367 chr8 87200000 93500000 Amplification Cutaneous T-cell lymphoma SNP array 21881587 chr8 87200000 93500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 87200000 93500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 87200000 99100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 87221488 87241319 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr8 87226287 87242603 Amplification Prostate cancer aCGH 22341455 chr8 87244856 87290168 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 87256056 87404313 Gain Schizophrenia Affymetrix Genome-Wide Human SNP 5.0 arrays 19805367 chr8 87257110 87298924 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 87257365 87262859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 87271806 87271906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87283463 87284463 Gain Chordoma References 21215367 chr8 87295404 87311720 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87295413 87311720 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 87295413 87311720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87314787 87315035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87314899 87315039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87315063 87315246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87354993 87480178 Amplification Prostate cancer ABI 7000 Sequence Detection System real-time PCR 17016436 chr8 87354993 87480180 Amplification Prostate cancer aCGH 22341455 chr8 87424109 87549294 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 87424109 87549294 Copy number Lung cancer - 20668451 chr8 87424109 87549294 Gain or loss Breast cancer - 20668451 chr8 87424109 87549294 Gain or loss Cancer - 20668451 chr8 87424109 87549294 Gain or loss Lung cancer - 20668451 chr8 87424109 87549294 Gain or loss Ovarian cancer - 20668451 chr8 87424109 87549294 Gain or loss Pancreas cancer - 20668451 chr8 87424109 87549294 Gain or loss Prostate cancer - 20668451 chr8 87436801 88195800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 87455369 87549292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 87455369 87549292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87455386 87548821 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87484577 87521008 Amplification Prostate cancer aCGH 22341455 chr8 87526655 87573725 Amplification Prostate cancer aCGH 22341455 chr8 87553693 87590125 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 87553694 87590125 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 87553694 87590125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87555463 87590037 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87563117 87564347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87566186 87642842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 87566186 87642842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87566198 87642842 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87566906 87566989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87584921 87586412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87586162 87755902 Amplification Prostate cancer aCGH 22341455 chr8 87599966 87600034 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87599966 87600034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87655276 87825017 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 87655276 87825017 Copy number Prostate cancer Affymetrix 5.0 chip 20978177 chr8 87655276 87825017 Deletion Normal References 22138850 chr8 87655277 87825017 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 87655277 87825017 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87655280 87825017 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87738768 87739749 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87739214 87739296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 87741867 87743262 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87759842 87759942 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87767971 87768071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 87804017 87805017 Gain Renal cell carcinoma References 21215367 chr8 8785501 8788000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 87884050 87884121 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 8790733 8790835 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8790733 8790838 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 8790733 8790846 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87921262 88705946 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 87947791 88464071 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 87947840 88435135 Gain and loss Pancreatic cancer SNP array 17952125 chr8 87947840 88435220 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 87947840 88435220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 88007826 88007901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88173619 88173719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88192946 90289445 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-613K arrays 21546498 chr8 88195801 90523400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 88238813 89508847 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 88323361 89153247 LOH Normal High-resolution SNP genotyping 21211785 chr8 883548 883705 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 88367312 88367386 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88410324 88410424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88410421 88410521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88410496 88410621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88423104 91482769 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 88506340 90626857 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 88527687 88527787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8856495 8856628 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8856495 8856628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 88584433 88584533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88591918 88598165 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 88627691 89380901 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 88708331 88708431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88757018 88757153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88757033 88757133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88785860 88786010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88836263 88872072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 88857248 88857348 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88899125 88899185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88910205 88910305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 88923861 89703774 LOH Normal High-resolution SNP genotyping 21211785 chr8 88952095 88955412 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 88954128 88955315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 88954128 88955315 Gain and loss Pancreatic cancer SNP array 17952125 chr8 88954128 88955315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 8897723 8928259 Amplification or deletion Normal BAC aCGH 22315515 chr8 8897723 8928259 Indels Malaria PCR,Delta Delta Ct 21533027 chr8 8897764 8928139 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8897856 8928139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 8897856 8928139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 88989851 89034488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 889978 890037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 89002996 89003096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 89032945 89202820 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 8909506 8910506 Gain Osteosarcoma References 21215367 chr8 89095907 89095984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 89115442 89115847 Gain and loss Pancreatic cancer SNP array 17952125 chr8 89115442 89115847 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 8911744 8911844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 89118575 89408833 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 89118578 89408892 Gain and loss Pancreatic cancer SNP array 17952125 chr8 89118580 89408825 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 89118580 89408833 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 89118580 89408833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 89122588 89122688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 89140266 89140354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 89151501 89340400 Deletion Glioma mate-paired sequence 20126413 chr8 89157744 89917557 LOH Normal High-resolution SNP genotyping 21211785 chr8 89158542 89337659 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 89168711 89669088 LOH Normal High-resolution SNP genotyping 21211785 chr8 89318098 89318222 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 89322534 90431439 LOH Normal High-resolution SNP genotyping 21211785 chr8 89378640 89469837 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 89392021 91271065 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 89399047 89400047 Gain Renal cell carcinoma References 21215367 chr8 89421044 89421139 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 89461324 89461630 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 89477807 89477892 Gain and loss Pancreatic cancer SNP array 17952125 chr8 89477807 89477892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 89479301 89479401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 8953483 8953550 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8953483 8953550 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 89548789 89972648 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr8 8955447 8956106 Gain and loss Pancreatic cancer SNP array 17952125 chr8 8957501 10081388 LOH Normal High-resolution SNP genotyping 21211785 chr8 89617303 89618303 Loss Osteosarcoma References 21215367 chr8 89619949 89620046 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 89636443 89636743 Gain Renal cell carcinoma References 21215367 chr8 8967375 8967435 Gain and loss Pancreatic cancer SNP array 17952125 chr8 89677806 90138549 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 89714774 89872504 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 89772391 89772470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 89791390 90842498 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 89847400 91253978 LOH Normal High-resolution SNP genotyping 21211785 chr8 89868268 89913815 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 89904471 89904571 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 89910306 90021039 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 89927992 89928992 Loss Renal cell carcinoma References 21215367 chr8 8993112 10425029 LOH Normal High-resolution SNP genotyping 21211785 chr8 89934797 89935797 Gain Renal cell carcinoma References 21215367 chr8 89936178 89937178 Gain Renal cell carcinoma References 21215367 chr8 89954833 89955833 Gain Renal cell carcinoma References 21215367 chr8 89956203 89957203 Gain Renal cell carcinoma References 21215367 chr8 89995892 89999037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 90005403 90005703 Gain Renal cell carcinoma References 21215367 chr8 90008816 90009816 Loss Renal cell carcinoma References 21215367 chr8 90020621 90021621 Gain Renal cell carcinoma References 21215367 chr8 90020642 90021642 Gain Renal cell carcinoma References 21215367 chr8 90020658 90021658 Loss Renal cell carcinoma References 21215367 chr8 90025359 90026359 Loss Renal cell carcinoma References 21215367 chr8 90028640 90029640 Gain Renal cell carcinoma References 21215367 chr8 90033567 90034567 Gain Renal cell carcinoma References 21215367 chr8 90056153 90057153 Loss Renal cell carcinoma References 21215367 chr8 90066559 90066859 Loss Renal cell carcinoma References 21215367 chr8 90066845 90067845 Gain Renal cell carcinoma References 21215367 chr8 90086284 90086316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 90088151 90089151 Loss Renal cell carcinoma References 21215367 chr8 90089101 91743800 LOH Normal High-resolution SNP genotyping 21211785 chr8 90089101 91749667 LOH Normal High-resolution SNP genotyping 21211785 chr8 9031186 9045630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 9031186 9045630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9032916 9045616 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9035296 9035522 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 90435039 90467063 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 90453621 90453789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 904892 922563 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 90493966 90496276 Gain and loss Pancreatic cancer SNP array 17952125 chr8 90494214 90495794 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 90523401 91940200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 90537386 90537547 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 90543183 90543283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 90544322 90678285 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 90606777 90751405 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 90608637 90608737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 90626857 91872240 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 90668463 92138999 LOH Normal High-resolution SNP genotyping 21211785 chr8 90669976 90670100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 90673143 91405055 LOH Normal High-resolution SNP genotyping 21211785 chr8 90700209 92138999 LOH Normal High-resolution SNP genotyping 21211785 chr8 907076 932348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 90714950 91743800 LOH Normal High-resolution SNP genotyping 21211785 chr8 9076668 9120383 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 90774902 90819223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 90839110 90872433 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 90839110 90872433 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 90839110 90872433 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 90839173 90872432 Gain and loss Pancreatic cancer SNP array 17952125 chr8 90889316 90922713 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 90902314 90953412 Amplification or deletion Cancer Array CGH 17440070 chr8 90963008 90997735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 90982122 90982225 Gain and loss Pancreatic cancer SNP array 17952125 chr8 90982122 90982225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 90983268 91009270 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 90983269 91009271 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 90983269 91009271 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 90983269 91009271 Gain and loss Pancreatic cancer SNP array 17952125 chr8 90983269 91009271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 90997238 91963035 LOH Normal High-resolution SNP genotyping 21211785 chr8 90999654 90999754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 91014740 91066075 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 91014740 91066075 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 91014740 91066075 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91014740 91066075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 91018273 105361774 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 910422 939093 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 91069962 91398845 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 91082755 91133403 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 91082756 91133403 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 91082756 91133403 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91082756 91133403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 91089589 92001603 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 91138350 91138671 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 91140013 91176863 Amplification or deletion Normal BAC aCGH 22315515 chr8 91140013 91176863 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 91140014 91164283 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 91140014 91164283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 91140014 91164283 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91140014 91164283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 91169309 91169409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 91169710 91169887 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91169710 91169887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 91195209 117921195 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-584K arrays 21546498 chr8 91204054 91921884 LOH Normal High-resolution SNP genotyping 21211785 chr8 91210804 91210904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9122765 29608631 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 9124688 9203748 Gain Normal Birdsuite, version 1.5.2 22087296 chr8 91270619 91271843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 91341238 91342238 Gain Osteosarcoma References 21215367 chr8 91348505 91349505 Gain Renal cell carcinoma References 21215367 chr8 91348628 91349628 Gain Renal cell carcinoma References 21215367 chr8 91370670 91877385 LOH Normal High-resolution SNP genotyping 21211785 chr8 91411528 91412528 Loss Renal cell carcinoma References 21215367 chr8 91479763 91483304 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 91483479 92936296 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 91483713 91503743 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 91530441 92531480 LOH Normal High-resolution SNP genotyping 21211785 chr8 9156667 9437099 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 91584591 91584859 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 91592526 91592640 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91592526 91592640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 91592538 91592645 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91614482 91615187 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 91677368 91677563 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91677368 91677563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 91704777 91873035 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 91704778 91727309 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 91704778 91727309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 91704778 91727309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 91704950 91727015 Gain and loss Pancreatic cancer SNP array 17952125 chr8 917716 930856 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91818505 91912379 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 9182392 9182498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9182395 9182498 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91856394 91856528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 91872953 92040806 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 91872954 92040806 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 91872954 92040806 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 91872954 92040806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 91873291 92040806 Gain and loss Pancreatic cancer SNP array 17952125 chr8 91911243 91911323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9192025 9870705 LOH Normal High-resolution SNP genotyping 21211785 chr8 91925157 92886717 LOH Normal High-resolution SNP genotyping 21211785 chr8 91926266 91927266 Loss Renal cell carcinoma References 21215367 chr8 91940201 94293100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 919665 920665 Gain Chordoma References 21215367 chr8 91996566 91996656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9200199 9200283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92012590 92012640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92012899 92012988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92043675 92342900 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 9204384 9204453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92046196 92046296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92068109 92166050 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 92071339 92071439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92075674 92122224 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 92075680 92122226 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 92075680 92122226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 92075680 92122226 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92075680 92122226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 92105467 92105576 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92105467 92105576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 92109758 92144758 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 92122085 92122185 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92151599 92168499 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 92151599 92168499 Gain or loss Breast cancer - 20668451 chr8 92151599 92168499 Gain or loss Cancer - 20668451 chr8 92151599 92168499 Gain or loss Lung cancer - 20668451 chr8 92151599 92168499 Gain or loss Ovarian cancer - 20668451 chr8 92151599 92168499 Gain or loss Pancreas cancer - 20668451 chr8 92151599 92168499 Gain or loss Prostate cancer - 20668451 chr8 92151600 92168499 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 92151600 92168499 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 92151600 92168499 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 92151720 92168495 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 92151720 92168495 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92184022 92300640 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 92184049 92300522 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 92184049 92300522 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92184049 92300522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 92203315 92204315 Loss Osteosarcoma References 21215367 chr8 92222033 92222356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 92254321 92286429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 92257633 92257732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9227210 9272151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 92290897 92479554 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 92294670 92294758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9232334 10310074 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr8 92330692 92479554 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 92330692 92479554 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 92330692 92479554 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92330692 92479554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 92336232 92350693 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 92345912 92346012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92545442 92545538 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92545442 92545538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 92546676 92591595 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 92560486 92568301 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 92601554 92610112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 92636326 92637326 Gain Renal cell carcinoma References 21215367 chr8 92654458 92654507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9266010 9266088 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9266010 9266109 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9266010 9266115 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 92674949 93348941 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 92676369 92676606 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92676369 92676655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 92676369 92676701 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92677073 92677290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92781366 92781690 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 92831682 92832870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 928763 978117 Gain and loss Pancreatic cancer SNP array 17952125 chr8 92918180 92918261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 92929052 92986151 Amplification or deletion Cancer Array CGH 17440070 chr8 92936296 94465624 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 92936996 93172804 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 92998911 92999310 Gain and loss Pancreatic cancer SNP array 17952125 chr8 93040327 93176820 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 93040327 93176820 Copy number Lung cancer - 20668451 chr8 93040327 93176820 Gain or loss Breast cancer - 20668451 chr8 93040327 93176820 Gain or loss Cancer - 20668451 chr8 93040327 93176820 Gain or loss Lung cancer - 20668451 chr8 93040327 93176820 Gain or loss Ovarian cancer - 20668451 chr8 93040327 93176820 Gain or loss Pancreas cancer - 20668451 chr8 93040327 93176820 Gain or loss Prostate cancer - 20668451 chr8 93040328 93176619 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 93040328 93176619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 93040328 93176619 Gain and loss Pancreatic cancer SNP array 17952125 chr8 93040328 93176619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 93084010 93094108 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 93150000 94170000 Loss Acute lymphoblastic leukemia - 21339820 chr8 93173018 93493721 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 93223338 93223438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 93225492 93225839 Gain and loss Pancreatic cancer SNP array 17952125 chr8 93225660 93225728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 93248844 93248954 Gain and loss Pancreatic cancer SNP array 17952125 chr8 93248847 93248951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 93248865 93248954 Gain and loss Pancreatic cancer SNP array 17952125 chr8 93300000 117700000 Amplification Breast cancer Array CGH 16461572 chr8 93300000 117700000 Copy number Autosomal-dominant progressive external ophthalmoplegia References 19664747 chr8 93300000 117700000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 chr8 93300000 146364022 Gain Endometrioid adenocarcinoma CGH 16974079 chr8 93300000 99000000 Deletion Neuropsychiatric disorder BeadChip technology with a Single Nucleotide Polymorphism based array; Illumina HD Human610-quad BeadChip platform 20069037 chr8 93300000 99000000 Loss Mental retardation Array CGH 17847001 chr8 93421317 93421481 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 93424369 93458234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 93493988 93540016 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 93498955 95704126 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 93500000 101600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 93500000 127300000 Deletion Congenital diaphragmatic hernia high-resolution SNP arrays 21085971 chr8 93500000 99100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 93500000 99100000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 93500000 99100000 Copy number Normal - 21701786 chr8 93500000 99100000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr8 93500000 99100000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr8 93500000 99100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 93500000 99100000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 93500000 99100000 Gain Malignant fibrous histiocytomas aCGH 21085701 chr8 93541099 93576335 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 93576878 93622826 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 93612869 93782102 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr8 93623433 94798224 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 93652653 93652703 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 93686213 93707355 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr8 93716731 93716879 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 93723994 93724994 Loss Renal cell carcinoma References 21215367 chr8 93735785 93736785 Loss Renal cell carcinoma References 21215367 chr8 93746347 93746447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 93748027 93748103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 93764593 93794095 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 93948443 93949443 Gain Osteosarcoma References 21215367 chr8 93965041 93967189 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 93965041 93967189 Gain and loss Pancreatic cancer SNP array 17952125 chr8 93965041 93967189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 93967120 94047502 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 93968025 94047474 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 93968026 94047474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9401557 10099045 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr8 94049337 94049369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94061311 94061404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94072576 94073576 Loss Renal cell carcinoma References 21215367 chr8 94126057 94156822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 94127375 94157293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 94139601 94148300 Deletion Glioma mate-paired sequence 20126413 chr8 94141318 94146382 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 94141504 94146349 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 94141519 94146365 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 941482 985145 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 94162335 94162464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94162483 94162670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94260339 94267597 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 94286539 94286639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94293101 94748500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 94299224 94315571 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 94306592 94312775 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 94311043 94311564 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 94311043 94311564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 94311064 94311564 Gain and loss Pancreatic cancer SNP array 17952125 chr8 94322818 94322857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94373823 94373872 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 94407727 94450765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 94410086 94410464 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 94427184 94427507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 94453866 98112101 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 9450854 9677266 Copy number Lung cancer - 20668451 chr8 9450854 9677266 Gain or loss Breast cancer - 20668451 chr8 9450854 9677266 Gain or loss Cancer - 20668451 chr8 9450854 9677266 Gain or loss Lung cancer - 20668451 chr8 9450854 9677266 Gain or loss Ovarian cancer - 20668451 chr8 9450854 9677266 Gain or loss Pancreas cancer - 20668451 chr8 9450854 9677266 Gain or loss Prostate cancer - 20668451 chr8 9450855 9677266 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 9450855 9677266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9450860 9677265 Gain and loss Pancreatic cancer SNP array 17952125 chr8 94522681 94522770 Gain and loss Pancreatic cancer SNP array 17952125 chr8 94522681 94522770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 94522681 94522788 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 94547824 94547908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94608281 94608346 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9463505 9463605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9463657 9463758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9463663 9463717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94670159 94670208 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 94719693 94754554 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 94727479 94728468 Gain and loss Pancreatic cancer SNP array 17952125 chr8 94748501 94900300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 94749421 94838339 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr8 94770722 94770822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94777082 94784210 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 94777082 94784210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 94781911 94809845 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 94781911 94809845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 94781911 94809845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 94781911 94809852 Gain and loss Pancreatic cancer SNP array 17952125 chr8 94781948 94809847 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 94796649 94796948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 94800041 95061743 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 94810961 94845178 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 94812903 94822400 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 94812909 94822400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 94812909 94822400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 94812909 94822400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 94815156 94817814 Gain and loss Pancreatic cancer SNP array 17952125 chr8 94821525 94822177 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 94821525 94822177 Gain and loss Pancreatic cancer SNP array 17952125 chr8 94821525 94822177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 94830019 94830119 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 94836247 94899523 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 94836291 94898322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 94836291 94898322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 94836306 94898322 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 94836306 94900638 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9489923 94836269 Copy number Autism exome sequencing 22495311 chr8 94900301 95406300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 94914501 94916000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 94998338 95007470 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 94998338 95007470 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 94998338 95007470 Gain and loss Pancreatic cancer SNP array 17952125 chr8 94998338 95007470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9502327 9537164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 95036144 95037144 Gain Renal cell carcinoma References 21215367 chr8 95042628 95043628 Gain Renal cell carcinoma References 21215367 chr8 95056796 95056896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95062231 99484613 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 95076312 95076412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95078426 96623917 Amplification Breast cancer FISH 17142309 chr8 950995 954884 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 951016 954933 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 95208566 95289986 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95208566 95289986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95208566 95289986 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95208566 95289986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95208567 95289986 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 95208567 95289986 Deletion Intellectual disability 100k SNP Array 21811512 chr8 95241315 95274197 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 95256911 95256981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95284002 95284088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95307395 95307489 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 95323181 95323261 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95330660 95343733 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 95330660 95343733 Gain or loss Breast cancer - 20668451 chr8 95330660 95343733 Gain or loss Cancer - 20668451 chr8 95330660 95343733 Gain or loss Lung cancer - 20668451 chr8 95330660 95343733 Gain or loss Ovarian cancer - 20668451 chr8 95330660 95343733 Gain or loss Pancreas cancer - 20668451 chr8 95330660 95343733 Gain or loss Prostate cancer - 20668451 chr8 95330663 95343733 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95330663 95343733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95330663 95343733 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95330663 95343733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95342668 95343668 Gain Osteosarcoma References 21215367 chr8 9535086 9538157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 9535213 9538649 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr8 9535213 9538649 Homozygous copy loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 95393627 95408381 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 95398838 95399143 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 95406301 95988200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 95453363 95556486 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 95453365 95556486 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95453365 95556486 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95453365 95556489 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95453365 95556489 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95459707 95459756 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 95467103 95467203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95493461 95527047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 95512564 95556466 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95512564 95556466 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95512564 95556466 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95513351 95518308 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95569776 95634864 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95569776 95634864 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 95569776 95634864 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95569776 95634864 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95569776 95634864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95593047 95628996 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 95627947 95629806 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95627947 95629806 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95627947 95629806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95671019 95700227 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 95703335 95703435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95716056 95718118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 95722262 95788868 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95722262 95788868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95722262 95788868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95722478 95788868 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95737324 95737611 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95737324 95737611 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95743491 95743559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95762345 95762467 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 95779891 95781302 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95795119 95795216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95795121 95795216 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95795122 95795216 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95801325 95873238 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95801327 95873238 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95801327 95873238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95801327 95873238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 958312 15160490 Deletion Congenital diaphragmatic hernia 15K oligonucleotide array CGH 21064195 chr8 95854872 95855821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 95866327 95867898 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 95888502 95889502 Gain Renal cell carcinoma References 21215367 chr8 95904710 95961896 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95904710 95961896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95904710 95961896 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95904710 95961896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95905777 95905853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95906109 95906141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95911779 95911879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 95941110 95975296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 959488 975871 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 95951746 95976660 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95951746 95976660 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95951746 95976660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95961631 95976660 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95972640 95973511 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95972640 95973511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95977217 96140114 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 95977217 96140114 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 95977217 96140114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95987423 95987523 Gain and loss Pancreatic cancer SNP array 17952125 chr8 95987423 95987523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 95988201 96544800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 96007377 96030770 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 96007377 96030770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 96007377 96030770 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96007377 96030770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9606802 9606902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96072106 96072225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9609890 9609990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96106397 96140114 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 96106413 96115476 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96136618 96136720 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96136619 96136718 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96136622 96136724 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 96155818 96155959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 961651 961815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 96215208 96238087 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 96215208 96238087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 96215208 96238087 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96215208 96238087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 96215860 96215956 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr8 96237431 96246854 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 96285641 96330847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 96297981 104661726 Gain Malignant melanoma BAC array CGH 17260012 chr8 96326324 96350605 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 96326324 96350605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 96326369 96350594 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96327410 96350613 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 96327411 96350613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 96328691 96330039 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 96344613 96348276 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 9636592 9636688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 96408854 96408954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9641067 9674878 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 96414426 96414563 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 96473764 96473920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96486714 96690344 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 96489815 96489915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96503530 96503630 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96515463 96515563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96522794 96557131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 96523558 96538276 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 96544801 97354400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 96632525 96632625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96633885 96638574 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96645904 96673997 Loss Normal Birdsuite, version 1.5.2 22087296 chr8 96652884 96652932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9665654 9665773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96657091 96657283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96657273 96657498 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96657888 96658888 Gain Renal cell carcinoma References 21215367 chr8 96668957 96685309 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 96680518 96680623 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96680522 96680623 Gain and loss Pancreatic cancer SNP array 17952125 chr8 96680522 96680623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 96745229 96745329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96760242 96760319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 96783342 96783509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 967998 73677506 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr8 96832408 97309305 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 96904547 96904647 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96921196 96921276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96923760 96926671 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 96929575 96952491 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 96932737 96932821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96933635 96933690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 96942313 96987460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 96942501 96950700 Deletion Glioma mate-paired sequence 20126413 chr8 96944244 96948758 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr8 96944402 96948766 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 97054758 97054847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97064452 97078010 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 9709443 9709663 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 9709453 9709656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 97110473 97110537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97111174 97111274 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97129233 97129282 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 97150133 97151085 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97150148 97150690 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97165301 97169300 Deletion Glioma mate-paired sequence 20126413 chr8 97167250 97167601 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 97176448 97176548 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97223733 97242196 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 97223736 97242196 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 97223736 97242196 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 97223736 97242196 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97223736 97242196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97300405 97327177 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 97307945 97338236 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 97307945 97384821 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 97308479 97317038 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 97311911 97316987 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 97311911 97316987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 97311911 97316987 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97311911 97316987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97318889 146263538 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 97320820 97342972 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 97320821 97342972 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 97320821 97342972 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97320839 97342993 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 97320839 97342993 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 97320839 97342993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97338222 97384821 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 97343340 97415950 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 97343340 97415950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 97343340 97415950 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97343340 97415950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97343342 97415950 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 97343343 97415950 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 97347702 97347801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97352965 97385069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 97354401 97506200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 97390625 97390726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97390627 97390726 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97390628 97390726 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97394531 97394631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9740236 10122769 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 9740236 9876457 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 97412550 97437829 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 97416331 97418399 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 9748353 9758863 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 97484256 97484356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 97505881 97624036 Amplification Prostate cancer aCGH 22341455 chr8 97506201 98239900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 97512458 97512564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97512459 97512564 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97512475 97512563 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97574061 97574138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97575057 97693213 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 97575058 97693213 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 97575058 97693213 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 97575058 97693213 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97575072 97693173 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97575072 97693176 Amplification T-cell lymphomas Array-CGH 22341440 chr8 97583857 97583962 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 97585036 97585136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97589615 97591204 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 97589882 97591091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 97591719 99206137 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr8 97597188 97597277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9761829 9761930 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9761829 9761930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97625240 97626240 Loss Osteosarcoma References 21215367 chr8 97625775 97625836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97634063 97634158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97657498 98155721 Amplification Prostate cancer aCGH 22341455 chr8 97671325 97715742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 97684801 97685801 Loss Renal cell carcinoma References 21215367 chr8 97686951 97687951 Gain Renal cell carcinoma References 21215367 chr8 97687583 97687683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97714764 97714864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9771615 9771684 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9771615 9771684 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97718550 97751233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 97720501 97720650 Loss Normal 244K array 17666407 chr8 97720501 97724641 Loss Normal 244K array 17666407 chr8 97726674 98224898 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 97726675 98224894 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 97726675 98224894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 97726675 98224894 Gain and loss Pancreatic cancer SNP array 17952125 chr8 97726675 98224894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 97726675 98224900 Amplification T-cell lymphomas Array-CGH 22341440 chr8 97834973 97835067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97869240 97869303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 9789525 9790525 Loss Osteosarcoma References 21215367 chr8 9790035 9790335 Gain Osteosarcoma References 21215367 chr8 97935765 97935865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 97955601 97956601 Gain Renal cell carcinoma References 21215367 chr8 97977108 98006557 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 9798308 9798392 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9798308 9798392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9807698 9807901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9807775 9807875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9807890 9808071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 98106191 98106291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 98125988 98126138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9817353 9818353 Loss Osteosarcoma References 21215367 chr8 9819756 9819856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 98224860 98225094 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr8 98239901 98670000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 9826641 9826742 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9826641 9826742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 98269319 98269640 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 98285713 98290175 Amplification Prostate cancer aCGH 22341455 chr8 98286500 98286600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9834568 9835568 Gain Osteosarcoma References 21215367 chr8 98348139 98348332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 98348316 98348563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 98354892 98359352 Amplification T-cell lymphomas Array-CGH 22341440 chr8 9835494 9942198 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr8 98357995 98359248 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 98357995 98359248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 98357995 98359290 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98439669 98439879 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98439669 98439881 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 98446750 98446850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 98454450 98454550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9860560 9860660 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 98642450 98654453 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 98646910 98647114 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98646910 98647114 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 98656406 98742487 Amplification Prostate cancer aCGH 22341455 chr8 98664569 98664907 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 98670001 98872400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 98700480 98745218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 98705607 98706447 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98705607 98706483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9871565 9871665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 98725583 98807711 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 98725583 98807711 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 98725583 98807711 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98725583 98807711 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 98725583 98807714 Amplification T-cell lymphomas Array-CGH 22341440 chr8 98758553 98758624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 98787808 98864829 Amplification Prostate cancer aCGH 22341455 chr8 98852625 98852956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 98853717 98853827 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98853717 98853829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 98853718 98853828 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98856461 98934002 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 98856461 98934002 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98856985 98933999 Amplification T-cell lymphomas Array-CGH 22341440 chr8 98856985 98934002 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 98856985 98934002 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 98872401 99530200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 98881310 99048947 Amplification Prostate cancer aCGH 22341455 chr8 98886869 98896731 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr8 98931242 98932485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 98946458 98946889 Gain and loss Pancreatic cancer SNP array 17952125 chr8 98950486 99118122 Amplification Intellectual disability 100k SNP Array 21811512 chr8 98950487 99117116 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 98950487 99117116 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 98950487 99117116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 98950537 99117116 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9895486 10489237 LOH Normal High-resolution SNP genotyping 21211785 chr8 98969381 99117616 Amplification T-cell lymphomas Array-CGH 22341440 chr8 99000000 101600000 Gain Congenital anomalies of the kidney and urinary tract oligo-nucleotide array CGH 20467480 chr8 99053935 99090125 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99053941 99057772 Amplification Prostate cancer aCGH 22341455 chr8 99076749 99105837 Amplification Prostate cancer aCGH 22341455 chr8 99100000 101600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 99100000 101600000 Copy number Normal - 21701786 chr8 99100000 101600000 Gain Colorectal cancer 44K Human Whole Genome Oligo Microarrays 19455253 chr8 99100000 101600000 Gain Liver carcinoma Qiagen DNeasy extraction kit 19366792 chr8 99100000 106100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr8 99100000 110600000 Deletion Medulloblastoma SNP arrays 21979893 chr8 99100000 110600000 Gain Multiple myeloma CGH, FISH 16461302 chr8 99114566 99129417 Amplification Prostate cancer aCGH 22341455 chr8 99123118 99126949 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 99123119 99126949 Amplification T-cell lymphomas Array-CGH 22341440 chr8 99123119 99126949 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99123130 99129034 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99123130 99129034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 99123130 99129034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99123490 99123621 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99123490 99123621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99129520 99172068 Amplification Prostate cancer aCGH 22341455 chr8 99130260 99130351 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99130260 99130351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99145920 99175014 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99145920 99175014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 99145920 99175014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99145926 99175014 Amplification T-cell lymphomas Array-CGH 22341440 chr8 99145926 99175014 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99170315 102690095 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr8 9918006 9918086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99183743 99198594 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99183743 99198594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 99183743 99198594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99183748 99198594 Amplification T-cell lymphomas Array-CGH 22341440 chr8 99183748 99198594 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99188541 99201798 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr8 99198716 99239818 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 99198716 99239818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99199244 99239813 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99199244 99239813 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99199244 99239816 Amplification T-cell lymphomas Array-CGH 22341440 chr8 99204386 99306620 Amplification Prostate cancer aCGH 22341455 chr8 99220000 115760000 Amplification Sezary syndrome Array-based CGH 18413736 chr8 99222638 99222706 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99222638 99222706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99226664 99227664 Gain Renal cell carcinoma References 21215367 chr8 99232476 99233476 Gain Renal cell carcinoma References 21215367 chr8 99246395 99247395 Loss Renal cell carcinoma References 21215367 chr8 99256919 99257919 Loss Renal cell carcinoma References 21215367 chr8 99262790 99262890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99273289 99274289 Gain Renal cell carcinoma References 21215367 chr8 99273562 99375797 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 99273563 99375797 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99273563 99375797 Amplification T-cell lymphomas Array-CGH 22341440 chr8 99273563 99375797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 99273563 99375797 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99273563 99375797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99273619 99273711 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99276752 99277052 Gain Renal cell carcinoma References 21215367 chr8 99280579 99281579 Gain Renal cell carcinoma References 21215367 chr8 99290850 99332863 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr8 99318074 99319074 Loss Renal cell carcinoma References 21215367 chr8 99326567 99373306 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 99330308 99331308 Loss Renal cell carcinoma References 21215367 chr8 99333023 99373306 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr8 99334207 99334307 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99347282 99347385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99352064 99352138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 9943872 9944872 Loss Renal cell carcinoma References 21215367 chr8 99439249 99443024 Amplification Prostate cancer aCGH 22341455 chr8 9944408 9944447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99466860 99837908 Amplification Prostate cancer aCGH 22341455 chr8 99476840 99476940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99486451 102109672 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr8 9949189 10323803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 9949189 10323803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9949240 10323808 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99494286 99495188 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99494286 99495188 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99504001 99510500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 99508425 99512199 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr8 99508426 99512195 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99508426 99512195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 99508426 99512195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99508426 99512201 Amplification T-cell lymphomas Array-CGH 22341440 chr8 99508621 99514252 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99509647 99629754 Gain Stenocardia MACArray Karyo 41K BAC-chips 21860640 chr8 99509647 99629754 Gain Vasospasm MACArray Karyo 41K BAC-chips 21860640 chr8 99510372 99510451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99530201 101453000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 99533176 99533276 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99534317 99534644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr8 99536037 99907074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr8 99536037 99907074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99536037 99907085 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99536041 99860304 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99536043 99907085 Amplification T-cell lymphomas Array-CGH 22341440 chr8 99544348 99544454 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99544348 99544454 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99544701 99544801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99547056 99547125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99552782 99557027 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99563575 99563659 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99595092 99595141 Amplification Gastric cancer affymetrix SNP arrays and Illumina mRNA expression arrays 22014070 chr8 9976733 9976803 Gain and loss Pancreatic cancer SNP array 17952125 chr8 9976733 9976803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 9980317 10089158 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr8 99816434 100038623 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr8 9982841 9982951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99845087 99845187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr8 99865501 99867000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr8 99956630 99964327 Amplification Prostate cancer aCGH 22341455 chr8 99974406 99975406 Loss Renal cell carcinoma References 21215367 chr8 99986636 99987074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr8 99986651 99987074 Gain and loss Pancreatic cancer SNP array 17952125 chr8 99988810 100033739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 100001101 100057824 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 100001132 100057736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 100001132 100057736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100013001 100509000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 100036831 100037639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100040169 100040987 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 100050139 100197864 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 100051265 100051365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1000733 10056294 Copy number Autism exome sequencing 22495311 chr9 100079501 100079554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100088156 100088256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100090186 100510996 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 100090187 100511300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 100090187 100511300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100092350 100430738 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 1001085 1001799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100131839 100160072 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 100131839 100168055 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 100132137 100168055 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 100140104 100140204 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100143927 100194730 Gain and loss Pancreatic cancer SNP array 17952125 chr9 100155740 100155840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10018277 10019277 Loss Renal cell carcinoma References 21215367 chr9 100189504 100189600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100198768 100534035 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr9 100237579 100237679 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100238585 100238685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100239016 100918750 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 100249152 100249465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 100249168 100249481 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 100263901 100896400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 100283738 100419472 Gain and loss Pancreatic cancer SNP array 17952125 chr9 100330185 100330280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100343591 100357222 Copy number Alcoholism Illumina Human Hap680W-Quad BeadChip 21790672 chr9 100343591 100357222 Copy number Normal - 21790672 chr9 100346801 100353400 Deletion Glioma mate-paired sequence 20126413 chr9 100348864 100351491 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 100348865 100351485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 100363072 100392006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 100387807 100388130 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 100409096 100410232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100420161 100428288 Gain and loss Pancreatic cancer SNP array 17952125 chr9 100422886 100423216 Gain and loss Pancreatic cancer SNP array 17952125 chr9 100422978 100423216 Gain and loss Pancreatic cancer SNP array 17952125 chr9 100484883 100484973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100509001 100512000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 100509332 100512013 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 100512001 101206000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 100514833 100514921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10051829 12397578 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 100534099 100599068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 100534099 100599068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100570382 100615208 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 100596726 100596826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100609802 100652163 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 100609802 100652163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10067064 10067109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10067086 10068086 Gain Renal cell carcinoma References 21215367 chr9 100671566 100671611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100692693 100694040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10071146 10072146 Loss Renal cell carcinoma References 21215367 chr9 100745959 100872889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 100745959 100872889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100802912 101061047 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 100805662 100816693 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 100819353 100819453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100855742 100855797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100870586 101166971 Gain and loss Pancreatic cancer SNP array 17952125 chr9 100896401 101098800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 100905143 102152148 Amplification Esophageal cancer affymetrix genechip human mapping 255K Nsp arrays 21851588 chr9 100907232 100956294 Gain or loss Breast cancer - 20668451 chr9 100907232 100956294 Gain or loss Cancer - 20668451 chr9 100907232 100956294 Gain or loss Lung cancer - 20668451 chr9 100907232 100956294 Gain or loss Ovarian cancer - 20668451 chr9 100907232 100956294 Gain or loss Pancreas cancer - 20668451 chr9 100907232 100956294 Gain or loss Prostate cancer - 20668451 chr9 100907232 100956294 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 100907233 100956295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 100907233 100956295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100912785 100912885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 100987683 100987969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 100993497 100993568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 101018529 101024067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 101018529 101024067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101024380 101032715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 101024380 101032715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101051604 101051704 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10107404 31795081 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 chr9 101082870 101083779 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 101086125 101086442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101098801 101427700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 101107215 101108714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101185434 101206938 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 101202624 101213312 Gain and loss Pancreatic cancer SNP array 17952125 chr9 101231804 101240451 Gain and loss Pancreatic cancer SNP array 17952125 chr9 101240718 101252497 Gain and loss Pancreatic cancer SNP array 17952125 chr9 101263214 101277660 Gain and loss Pancreatic cancer SNP array 17952125 chr9 10126560 10127720 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 101317164 101329030 Gain and loss Pancreatic cancer SNP array 17952125 chr9 101336798 102628252 LOH Normal High-resolution SNP genotyping 21211785 chr9 101353456 101682714 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 101375688 101405180 Gain and loss Pancreatic cancer SNP array 17952125 chr9 101411190 101580417 Gain and loss Pancreatic cancer SNP array 17952125 chr9 101427701 101528900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 101436246 101436767 Gain and loss Pancreatic cancer SNP array 17952125 chr9 101452001 101453000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 101465514 101478292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 101528901 103451700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 101578780 101578880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 101600000 107200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 101600000 107200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 101600000 107200000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr9 101600000 110300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 101600000 113900000 Copy number Fukuyama congenital muscular dystrophy Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr9 101600000 113900000 Copy number Normal Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr9 101600000 129300000 Loss Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 chr9 101600000 140273252 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr9 10160101 10423023 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr9 101621501 101626000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 101623958 101668994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 101623958 101668994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101625631 101625718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 101626001 101628000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 101635594 101635661 Gain and loss Pancreatic cancer SNP array 17952125 chr9 101677230 102836913 LOH Normal High-resolution SNP genotyping 21211785 chr9 101708793 101770776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101719787 101905114 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 101727912 101728012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 101767039 101767128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 101781293 101901151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 101781293 101901151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10178450 10360398 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 101785557 101824248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 101788898 101808651 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 101791055 101805405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 101800408 101801172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101823196 101823278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 101846395 104033493 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 101901332 102103247 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 101901332 102103247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101904662 101904940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101904662 101904942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101918864 101919754 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101953484 102602061 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 101977281 101978152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 101977843 101977943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 101988046 101988126 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102012290 102033720 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 102016140 102047340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 102041415 102711737 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 102089340 102089440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102098441 102098547 Gain and loss Pancreatic cancer SNP array 17952125 chr9 102104193 102154996 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 102104193 102154996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 102125516 102125576 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102173801 102173896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102186086 102186186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102193024 102193097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102229319 102229419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102229380 102379733 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 102229380 102379733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10225112 10293554 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 10225112 10293554 Copy number gain Normal High-resolution SNP genotyping 21211785 chr9 102267440 102267540 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102278806 102278901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102308818 102308908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102315650 102315682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102320134 102493021 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 102324965 102325052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102380157 102389992 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 102380157 102389992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 102383184 102383482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 102386967 102387105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102395933 105160491 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 102533343 102534442 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 102564395 102567379 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 102578883 102610271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 102580505 102580605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102585291 102644551 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 102585894 102585992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10259324 10259424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102600000 108200000 Loss Mantle cell lymphoma Array CGH 19029149 chr9 102600000 114900000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr9 102635311 102635396 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1026552 1053193 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr9 102682223 103006235 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 102691897 102737431 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 102714423 102714844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 102734536 102734636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102762953 138303776 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 10276986 10300942 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 102777771 102778779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 102798420 102802634 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 102813913 102814013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102825040 102847515 Gain and loss Pancreatic cancer SNP array 17952125 chr9 102830852 103127238 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 102830852 103127238 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 102868118 102868155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 102904187 102910277 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 102927539 102928024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 102939511 102984233 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 103078832 103748841 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 103136187 103141450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103136259 103136359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103158572 103158906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103161035 103163339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103162890 103173578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 103162890 103173578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103177457 103178706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103189929 103190622 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 103192070 103200717 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 103192070 103200717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103200976 103212763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 103200976 103212763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10321434 10322434 Loss Renal cell carcinoma References 21215367 chr9 103222681 103237926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 103222681 103237926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103230559 103230614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10323697 10324697 Gain Renal cell carcinoma References 21215367 chr9 103259517 103260199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 103271513 103271613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103275274 103335551 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 103275274 103335551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103277428 103289296 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 103303746 103303988 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103335954 103365447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 103335954 103365447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103348671 103348771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103371455 103540683 Copy number Normal Illumina Human610-Quad BeadChip 21660214 chr9 103371455 103540683 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 103371456 103540683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 103371456 103540683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103393718 103397104 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 103393718 103397104 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103481701 103486500 Deletion Glioma mate-paired sequence 20126413 chr9 103483783 103484548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 103536518 103538034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 103568982 103569082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103577974 103578786 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 103595557 103595796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103595860 103595927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10359747 10360747 Gain Renal cell carcinoma References 21215367 chr9 103609516 103610303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 103662219 103662319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103663499 103663564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103679104 105594740 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 103702720 103702846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103702926 103703026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103703117 104645839 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 10372390 10416916 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 1037301 1366200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 103733099 103733199 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103751795 103766018 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 103751795 103766018 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 103752801 103766000 Deletion Glioma mate-paired sequence 20126413 chr9 103754665 103764302 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 103790411 103790511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 103804615 103804942 Amplification or deletion Cancer Array CGH 17440070 chr9 103857358 103857773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 103893182 104086715 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 103901773 103913121 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 103913507 105223754 Loss Neuroblastoma aCGH 20406844 chr9 10392901 10396900 Deletion Glioma mate-paired sequence 20126413 chr9 103936096 103983245 Gain and loss Pancreatic cancer SNP array 17952125 chr9 10394562 10395091 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 10394571 10395103 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 103998402 103998502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10400067 11764217 Loss Barrett's syndrome BAC array 19417022 chr9 104004949 104005300 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 1040354 1047550 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1040354 1047552 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 1040354 1047552 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 1040354 1047552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 104042311 105886217 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 104048099 104070760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 1040619 1047553 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 104091221 104091321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104097480 104097567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 104101731 104470850 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 104147377 105248563 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 104151554 104151654 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1041614 1047552 Deletion T-cell lymphomas Array-CGH 22341440 chr9 104199546 104199646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104202306 104202487 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 104209477 104209577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104216854 104216954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104230595 104390758 Copy number Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr9 104248373 105070517 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 104286503 104324283 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 104317385 104319493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 104321715 104459609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 104346099 104347058 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104368116 104369033 Gain and loss Pancreatic cancer SNP array 17952125 chr9 10437115 10441762 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 10437115 11481500 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 104377612 104378523 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104411004 104411966 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104413346 104414258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 104431853 104432768 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104443646 104448713 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr9 104446507 104447463 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104459084 104460040 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104493419 104493519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1045347 1519128 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 104536354 104537298 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104541858 104541958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104564171 104565107 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104589524 104601960 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104606006 104615845 Gain and loss Pancreatic cancer SNP array 17952125 chr9 10461250 10461427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104622838 104769991 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104641892 104687063 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 104647593 104647693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104691454 104691546 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104709775 104727682 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 104718734 104726254 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 104724721 104725293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 104748335 104793073 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 104778286 104887274 Copy number gain Normal High-resolution SNP genotyping 21211785 chr9 104791360 104820588 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 104791360 104820588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 104808756 104808841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104814496 104814596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 104829413 106738433 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 104843493 104879391 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 104867519 104867701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 104867574 104867674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10488741 10489050 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 104931336 105519803 LOH Normal High-resolution SNP genotyping 21211785 chr9 104938592 104938821 Gain and loss Pancreatic cancer SNP array 17952125 chr9 104938592 104938906 Gain and loss Pancreatic cancer SNP array 17952125 chr9 105000000 105032000 Gain Basal cell lymphoma Affymetrix Human Mapping 250K SNP arrays 21115979 chr9 105010731 105023627 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 1050620 1057554 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 1050620 1057554 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 1050620 1057554 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 105086666 105280131 Gain and loss Pancreatic cancer SNP array 17952125 chr9 105115460 106628057 LOH Normal High-resolution SNP genotyping 21211785 chr9 105145836 105145904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105155445 105155535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105172360 105172687 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 10522145 10522411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 105235563 105235903 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 105289881 105313967 Gain and loss Pancreatic cancer SNP array 17952125 chr9 105295556 105482953 Gain and loss Pancreatic cancer SNP array 17952125 chr9 105342495 105390940 Gain and loss Pancreatic cancer SNP array 17952125 chr9 105381704 132113780 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 105398232 105398318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105444633 120399689 Gain Developmental delay affymetrix genechip 500K/SNP 6.42 array 21147756 chr9 105450409 105450615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105450519 105450619 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105489991 105490091 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105504333 105504659 Gain and loss Pancreatic cancer SNP array 17952125 chr9 105522387 105556042 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 105536380 105616999 Gain and loss Pancreatic cancer SNP array 17952125 chr9 105552763 105576903 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 105561404 108049316 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 105607533 105610027 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 105608122 105609548 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 1056 1620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 105621892 105621992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105645183 105645283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105698984 105702955 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 10570296 10570384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105715560 105715622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105754923 105755023 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105762497 106710271 LOH Normal High-resolution SNP genotyping 21211785 chr9 105792010 105792110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105827864 105827909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105858322 105860269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 105872435 105907220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 105896362 105943519 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 105896362 105943519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 105900094 106426164 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 105900094 106426164 Copy number gain Normal High-resolution SNP genotyping 21211785 chr9 105985024 105985111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 105991 108951 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 105991 108951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 105991 108951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106042512 106042597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 106077400 106079497 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106130428 106131291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106188224 106188324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 106208064 106417132 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 106208064 106417132 Copy number gain Normal High-resolution SNP genotyping 21211785 chr9 106230185 106435633 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 106233 108417 Loss Intracranial ependymoma matrix-based CGH 16609018 chr9 106244182 106244352 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 106262540 106262640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10626472 10627472 Loss Renal cell carcinoma References 21215367 chr9 106306365 106307324 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106306365 106307324 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106308253 106333328 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 106328355 106329311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106328355 106329311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106337872 106338915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106337872 106338915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106366675 106366775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 106371270 106372232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106371270 106372232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106392146 106393052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106400559 106401515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106400559 106401515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106403809 106406604 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 106406447 106406547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 106406773 106407729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106406773 106407729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106419350 106420306 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106419350 106420306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106440795 106441108 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 106458870 106459818 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106490851 106490908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 106496524 106497564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106496524 106497564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106521813 106522056 Gain and loss Pancreatic cancer SNP array 17952125 chr9 106521813 106522145 Gain and loss Pancreatic cancer SNP array 17952125 chr9 106524437 106525373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106540105 106540188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 106549786 106562226 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106549786 106562226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106566271 106576112 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 106566272 106576111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106566272 106576111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106578181 106578539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106583104 106730257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 106583104 106730257 Copy number Lung cancer - 20668451 chr9 106583104 106730257 Gain or loss Breast cancer - 20668451 chr9 106583104 106730257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106583104 106730257 Gain or loss Cancer - 20668451 chr9 106583104 106730257 Gain or loss Lung cancer - 20668451 chr9 106583104 106730257 Gain or loss Ovarian cancer - 20668451 chr9 106583104 106730257 Gain or loss Pancreas cancer - 20668451 chr9 106583104 106730257 Gain or loss Prostate cancer - 20668451 chr9 106588901 108764700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 106634101 106638800 Deletion Glioma mate-paired sequence 20126413 chr9 106636009 106636924 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 106636026 106636232 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 106661495 106661562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 10667039 10668039 Loss Renal cell carcinoma References 21215367 chr9 106685613 106685702 Gain and loss Pancreatic cancer SNP array 17952125 chr9 106701781 106702356 Gain and loss Pancreatic cancer SNP array 17952125 chr9 106704933 106853318 Gain and loss Pancreatic cancer SNP array 17952125 chr9 106748518 106748582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 106757210 106757310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10677000 20277000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr9 106811900 107506049 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 106821925 108361549 LOH Normal High-resolution SNP genotyping 21211785 chr9 106848433 106897101 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 10685169 10685269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 106862169 106862546 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 106898858 106899177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 106914753 106915452 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 106933450 108991611 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 106951789 107777706 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 106971781 106972402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 106984582 106988859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107042619 107042697 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107046724 107241273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 107046724 107241273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107077433 107077533 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107125115 107172854 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107158 3898493 LOH Normal High-resolution SNP genotyping 21211785 chr9 10717435 10746220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 107200000 110300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 107200000 110300000 Copy number Normal - 21701786 chr9 107200000 110300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 107200000 110300000 Gain Barrett's adenocarcinoma FISH 18663352 chr9 107200000 113900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 107208647 107208747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107210358 107210458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10722575 10723575 Gain Renal cell carcinoma References 21215367 chr9 107239010 107340007 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 107250146 107354535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 107250146 107354535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10729307 10729376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107299874 107300142 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107316872 107316974 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107316872 107316975 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107322230 107328461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107326690 107331310 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107339031 107339081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107360232 107443220 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 107360232 107443220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107403144 107575411 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr9 107412133 107413216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 10745356 11271192 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 107456377 107456477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107464559 107464947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 107464559 107464947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107464598 107464925 Copy number Lung cancer - 20668451 chr9 107464598 107464925 Gain or loss Breast cancer - 20668451 chr9 107464598 107464925 Gain or loss Cancer - 20668451 chr9 107464598 107464925 Gain or loss Lung cancer - 20668451 chr9 107464598 107464925 Gain or loss Ovarian cancer - 20668451 chr9 107464598 107464925 Gain or loss Pancreas cancer - 20668451 chr9 107464598 107464925 Gain or loss Prostate cancer - 20668451 chr9 10747464 10748464 Loss Renal cell carcinoma References 21215367 chr9 107496646 107578714 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 107496646 107578714 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107504976 107505082 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107504977 107505082 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107512392 107512883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107516124 107518763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 107560266 107562857 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107575646 107771176 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 1076032 107443220 Copy number Autism exome sequencing 22495311 chr9 107612761 107625026 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 107623917 107624017 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107639581 107639682 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107651812 107652705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107653450 107653750 Gain and loss Pancreatic cancer SNP array 17952125 chr9 10765455 10766455 Gain Renal cell carcinoma References 21215367 chr9 10767357 10767525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107676345 107676665 Gain and loss Pancreatic cancer SNP array 17952125 chr9 10769 30682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 107699011 107699111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107769790 107769880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107882049 107882428 Gain and loss Pancreatic cancer SNP array 17952125 chr9 107937525 107937607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107956353 107956453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 107998169 108029413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 108000743 108000843 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108022629 108022701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108038797 108038892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108063490 108063579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108063938 108064248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 108092037 108092137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108094238 108218479 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 108129770 108632599 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 108152574 108152636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10816973 10817073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108179136 108229934 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 10818092 10818426 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 10818137 10818237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10819752 10820308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108212956 108213073 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 10829629 10830308 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 10829629 10830308 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 10829629 10830308 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 108468668 108468985 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108474692 108474769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 108482079 108482393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108524452 108525032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108645851 108645968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108648232 108648332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108665199 108815736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 108665199 108815736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108678174 108678432 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108696518 108697765 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108698098 108732117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 108704101 108705589 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108709356 108775953 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108764701 109928500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 108776016 108782785 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108779315 108781873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 108780883 108781657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108784406 108855364 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108804253 108849872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 108814205 108814537 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 108830181 108830259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108834241 108834404 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108834244 108834404 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108843720 108843792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108862202 108961780 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108884223 108884322 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108884224 108884322 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108888064 108888133 Gain and loss Pancreatic cancer SNP array 17952125 chr9 108917886 108918027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108918931 108919659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108940334 108940484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 108971671 108973250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 108979290 109009126 Gain and loss Pancreatic cancer SNP array 17952125 chr9 10898810 10899099 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109002885 109002963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109013810 109162242 Gain and loss Pancreatic cancer SNP array 17952125 chr9 109038036 109038144 Gain and loss Pancreatic cancer SNP array 17952125 chr9 109038037 109038144 Gain and loss Pancreatic cancer SNP array 17952125 chr9 109058099 109060669 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109063064 109063164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109064043 109064186 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109071501 109077000 Deletion Glioma mate-paired sequence 20126413 chr9 109073263 109075265 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109073264 109075269 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109073266 109075268 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 109085365 109134291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 109085365 109134291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109112961 111321891 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 109166520 109166629 Gain and loss Pancreatic cancer SNP array 17952125 chr9 109184070 109357673 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr9 109220073 109305291 Gain and loss Pancreatic cancer SNP array 17952125 chr9 109260140 109260408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109264965 109454331 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 109277053 109277153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109277138 109277241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109286954 109291576 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 109286954 109291576 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109286955 109291576 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 109289001 109291000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 109291857 109291957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 10933376 10933568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109336492 109337264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109339685 109339775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109343333 109351338 Loss Normal 244K array 17666407 chr9 109345253 109345718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109346782 109346860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109366193 109367026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109375284 109376164 Gain and loss Pancreatic cancer SNP array 17952125 chr9 109444189 109444369 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109465242 109465348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109467494 109471169 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109472707 109473024 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109486109 109486208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109494808 109520736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 109559510 110607849 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 109575501 109581900 Deletion Glioma mate-paired sequence 20126413 chr9 109577341 109580434 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 109577342 109580416 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 109579850 109579950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109599846 109599949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109599847 109599948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109605200 109605300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109613716 109614016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109613719 109614016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109619501 109620500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 109622132 110014344 Gain and loss Pancreatic cancer SNP array 17952125 chr9 109623436 109623536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109636611 109636931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109655885 109656360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109696648 109696748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1096992 1097092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109720968 109721080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109765805 109766147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109842248 109842702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 109859214 109859304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109899533 109900011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 10991539 10991689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 109928501 110130900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 109949140 124226030 Loss Developmental delay affymetrix genechip 500K/SNP 6.43 array 21147756 chr9 11001748 11003096 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 11001748 11003096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110041403 110049420 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110042432 110042522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 110084574 110084674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 110085855 110098342 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110088637 110111128 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 110088712 110124018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 110097773 110114132 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 110100751 110104820 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 110104445 110109416 Loss Normal 244K array 17666407 chr9 11011223 11040285 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 11011223 11040285 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 11011223 11040285 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 110114729 110139993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 110160953 110161030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110208125 110269596 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110211427 110211533 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110282701 110940500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 110284314 110391889 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110300000 113900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 110300000 113900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 110300000 113900000 Gain Barrett's adenocarcinoma FISH 18663352 chr9 110300000 116700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 110332001 110333000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 110381527 110381633 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110428922 110429295 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110428922 110429295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110445951 110446051 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 110465350 110497660 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 110510694 110642833 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110604525 110604625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 110623798 110624105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110638419 110638698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110639592 110639687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11064234 11087561 Amplification Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr9 110652973 110698271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 110656501 110658500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 110656692 110659068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110656692 110659068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110658501 110667500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 110664367 110665855 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110664367 110665855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110667966 110668054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 110669622 110736217 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110669622 110736217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110715099 110879920 Gain and loss Pancreatic cancer SNP array 17952125 chr9 11073426 11087217 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 110735501 110737000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 110736282 110752694 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110736282 110752694 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110744679 110815600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110744679 110815600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110745172 110745280 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110746780 110746880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11075099 11087217 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 110762435 110762623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 110776241 110776340 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110794510 110794670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110817238 110922046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110817238 110922046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110844487 110844588 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110848330 110848399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110878997 110881975 Loss or gain Normal 244K array 17666407 chr9 110915774 110917526 Gain Normal 244K array 17666407 chr9 110918769 110919139 Loss Normal 244K array 17666407 chr9 110923976 110924367 Gain Normal 244K array 17666407 chr9 110926053 110926203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 110939162 110939248 Gain and loss Pancreatic cancer SNP array 17952125 chr9 110939402 110969392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110939402 110969392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110940501 112053700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 110950857 110950892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 110952609 110952729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 110974075 111122842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 110974075 111122842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 110998302 110998410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 111039 169058 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 111039 169078 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 111039 169078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 111049922 111050022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111102287 111103273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 111126259 111126359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111126786 111126897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 111163943 111164043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111169318 111170268 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111177800 111300407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 111177800 111300407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 111203724 111325862 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111203740 111203840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111253489 111253577 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111300000 114900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 111300000 141213431 Copy number Lung cancer FISH 19147751 chr9 1 11300000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr9 111334974 111336541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 111356722 111356853 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111357868 111357993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111361832 111361932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111367024 111386267 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111390672 111392725 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111401782 111401876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111404808 111441480 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111412050 111412150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111437008 111437097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111442892 111753577 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 111442893 111974613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 111442893 111974613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 111470022 111470336 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 111473204 111512059 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1 114900000 Deletion Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr9 111528457 111636778 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111564808 111564971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111578136 111578236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111582397 111974612 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 111622948 111652063 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 111638885 111638968 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111672070 111672170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111681663 111681769 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111684642 111684741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111738601 111774910 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111763205 112103661 Copy number Normal Birdsuite, version 1.5.2 22087296 chr9 111767339 113038790 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 111767339 113622470 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 111805740 111805840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111819300 112900900 Gain Prostate cancer Array CGH 18632612 chr9 111826982 111827459 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 111838471 111838574 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111845679 111845779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111863834 111864138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 111870017 111870719 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 111882620 112017111 Gain and loss Pancreatic cancer SNP array 17952125 chr9 111891321 111891414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 111979633 111979729 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112001662 112010290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 112001662 112010290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112011121 112011228 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112011121 112011230 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112046121 112058608 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 112046121 112058608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112053701 114533100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 112060651 112175463 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112063617 112070616 Deletion Normal TaqMan assays 20972442 chr9 112064339 112069738 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 112064383 112069983 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr9 112064393 112069771 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 112064398 112076901 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 112064501 112069500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 112064610 112067990 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 112064610 112067990 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 112084385 112084674 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112094093 112094182 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112094093 112094213 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112105622 112139919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 112105622 112139919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11210937 11211037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112114427 112114641 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112146808 112157112 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 112167352 112381981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 112167352 112381981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112171693 112171799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112204549 112204951 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112209933 112210012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112212932 112247480 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112221906 112314239 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112261208 112261393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112261380 112261610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112279834 112312859 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112287425 112307220 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 112296351 112296444 Gain Normal 244K array 17666407 chr9 112314937 112315037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112320009 112727072 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 112328803 112507134 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112341791 112341899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112348438 112349527 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 11238602 11238702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1123918 1124006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112417256 113082505 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 112470907 112603099 Gain or loss Breast cancer - 20668451 chr9 112470907 112603099 Gain or loss Cancer - 20668451 chr9 112470907 112603099 Gain or loss Lung cancer - 20668451 chr9 112470907 112603099 Gain or loss Ovarian cancer - 20668451 chr9 112470907 112603099 Gain or loss Pancreas cancer - 20668451 chr9 112470907 112603099 Gain or loss Prostate cancer - 20668451 chr9 112470960 112603099 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 112470960 112603099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112472038 112472070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112474586 112519572 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112516993 112519926 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 112528352 112559945 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112529557 112529780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112555893 112555993 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112592837 112716821 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112644709 113878329 LOH Normal High-resolution SNP genotyping 21211785 chr9 112675365 112840186 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 112675365 112840186 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112705438 112705546 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112710030 112710062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112720756 112732645 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112736507 112736608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112819593 114731275 LOH Normal High-resolution SNP genotyping 21211785 chr9 112883729 112898551 Gain and loss Pancreatic cancer SNP array 17952125 chr9 112890585 112936009 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112899425 112899514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 112903914 112922410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112905346 113082505 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 112910730 112922714 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112921780 112926677 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112925241 112925336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 112926848 112945515 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112939363 112941433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 112939714 112985751 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 112992841 113005974 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1 13005419 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 113007354 113063122 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113036132 113036219 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113041920 113042020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113052719 113052803 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113053966 113054101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113063422 113106325 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113097730 113097879 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113108847 113117423 Deletion T-cell lymphomas Array-CGH 22341440 chr9 113108847 113117423 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113117528 113134604 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113129584 113130621 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113129584 113130621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113138929 113140874 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113155057 113182106 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113162793 113286846 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113162793 113286846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113191375 113213066 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113196099 113213058 Deletion T-cell lymphomas Array-CGH 22341440 chr9 113205490 113209552 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113213735 113213843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113213755 113213843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113214461 113214561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113215252 113217895 Deletion T-cell lymphomas Array-CGH 22341440 chr9 113215258 113217917 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113228153 113243121 Deletion T-cell lymphomas Array-CGH 22341440 chr9 113228153 113243145 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113249075 113252506 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113252520 113271431 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113271135 114516461 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 113274541 113297195 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 11329176 11329332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11329338 11329537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113303539 113439571 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113317095 113317180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113326870 113327090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113327260 113379945 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113327260 113379945 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113330000 114330000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 chr9 113365074 113401956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113365074 113401956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113373113 113373692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113404932 113433390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113404932 113433390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113419065 113419165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113420201 113420258 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113422180 113422275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113433453 113472347 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113433453 113472347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113434096 113438531 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 11344112 11838378 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr9 113458072 113458563 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113458557 113458613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113477353 113477497 Loss Normal 244K array 17666407 chr9 113488274 113597044 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113488274 113597044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113488721 113585600 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 113488721 113597044 Amplification or deletion Normal BAC aCGH 22315515 chr9 113491327 113491534 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113491609 113491687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113501881 113502197 Loss Normal 244K array 17666407 chr9 113541527 113554595 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 113552020 113585126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 113570828 113570928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113571136 113571236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113600828 113601253 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113605081 113605531 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113606975 113607075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113641929 113642035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113653150 113729255 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 113671568 113671886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113692932 113693683 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113698867 113735168 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113698867 113735168 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113714007 113714063 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113718183 113892040 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113747729 114516461 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 113765673 113766657 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113778530 113778625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113786551 113786970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113798736 113798840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113798737 113798840 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113800189 113800256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113842881 113977377 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 113842886 113977377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 113842886 113977377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113857004 113857104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113900000 116700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 113900000 116700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 113900000 116700000 Loss Glioblastoma multiforme aCGH 21080181 chr9 113900000 122000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 113900000 122000000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr9 113900000 140273252 Gain Medulloblastoma SNP arrays 21979893 chr9 113900000 140273252 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 113901964 113920269 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113933474 113941061 Gain and loss Pancreatic cancer SNP array 17952125 chr9 113939898 113940001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113939899 113939995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113942164 113942478 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113971387 113971498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 113972034 113972134 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113975072 113975164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 113975623 113976072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11398595 11398810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 113997785 114153382 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114010579 114012561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 114020536 114135768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114020536 114135768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1 140223300 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 1 140273252 Copy number LOH Pleomorphic xanthoastrocytoma SNP array 20730472 chr9 1 140273252 Deletion,amplification,duplication Normal Affymetrix 250K SNP array 21412953 chr9 1 140273252 Deletion Medulloblastoma SNP arrays 21979893 chr9 1 140273252 Duplication microdeletion syndrome array-CGH 16199537 chr9 1 140273252 Gain Medulloblastoma SNP arrays 21979893 chr9 1 140273252 Gain Normal - 20616218 chr9 1 140273252 Indels Normal Affymetrix 6.0 array 21223598 chr9 1 140273252 Loss Chordoma Array CGH 21602918 chr9 1 140273252 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-619K arrays 21546498 chr9 1 140273252 Loss Esophageal squamous carcinoma CGH 21637470 chr9 1 140273252 Loss Renal cell carcinoma Affymetrix GeneChip Human Mapping 10K Array 18592004 chr9 1 140273252 Translocation Developmental delay FISH 19490664 chr9 1 140273252 Trisomy Normal MAD tool 21586113 chr9 114030343 114030443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 114033062 114033431 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 114044651 114044940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1 140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 114051268 114051363 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114052200 114052300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 114054359 114054479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114056038 114089432 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 114074689 114074932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114074693 114074907 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114076812 114098113 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr9 114083079 114083513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11409939 11444220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 1 14100000 Gain Medulloblastoma SNP arrays 21979893 chr9 1 14100000 Loss Disorders of sex development - 21048976 chr9 1 14100000 Loss Honadal dysgenesis oligo V6.2 21048976 chr9 114109008 114109053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 114158213 114169829 Loss or gain Normal 244K array 17666407 chr9 114164815 114165217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114164890 114175088 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114177999 114236239 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1141807 1142140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114182038 114274511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114182038 114274511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1 14200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 1 14200000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr9 1 14200000 Loss Basal cell lymphoma CGH 17170743 chr9 1 14200000 Loss Follicular lymphoma CGH 17170743 chr9 1 14200000 Loss Lung cancer array CGH 16740712 chr9 11421301 11424900 Deletion Glioma mate-paired sequence 20126413 chr9 11423120 11423424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 114243914 114347259 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114284865 114317398 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 114289068 114462527 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 114289069 114462527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114289069 114462527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114304467 114304550 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 11436512 11982033 LOH Normal High-resolution SNP genotyping 21211785 chr9 114383880 114384691 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114407113 114407186 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114429580 114440206 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114453194 114487518 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114457291 114457402 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114457292 114457402 Gain and loss Pancreatic cancer SNP array 17952125 chr9 11445955 11611204 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 11446523 11446556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 114485249 114508721 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 114488618 114520250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114488618 114520250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114510653 114510753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 114533101 117037800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 114552955 114677087 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114552955 114677087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11461001 11462500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 114631167 114647966 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114681022 114692911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114681022 114692911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114692001 114693500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 114694067 115195249 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 114744678 114772324 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114761235 114764362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114761235 114764362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114769598 114769698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 114769942 114778858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 114843994 114858817 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 114843995 114858817 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114843995 114858817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114858501 114870250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 114862367 114959993 Gain and loss Pancreatic cancer SNP array 17952125 chr9 114865612 114972775 Copy number Autism Spectral Genomics 1 Mb array, Agilent 30K array and NimbleGen 10K array 19287141 chr9 114870251 114891750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 114894172 114923574 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 114900000 130300000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr9 114914996 114921945 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 114923574 114928862 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 114928862 114931716 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 114953058 114966243 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 114953059 114966242 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114953059 114966242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114967621 115023419 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 114967621 115023419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 114973480 115018163 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 114976906 114977200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 114989278 114989378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 115023638 115068495 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115023638 115068495 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115057997 115058146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115063613 115079981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 115069111 115077690 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115069114 115077690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115069114 115077690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115077444 115095287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115077444 115095287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115077794 115094877 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115099555 115105372 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115099555 115105372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115099819 115099819 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 115117751 115142388 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115117751 115142388 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115117751 115142388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1151516 2459741 Deletion Esophageal cancer affymetrix genechip human mapping 273K Nsp arrays 21851588 chr9 115151632 115173334 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115151632 115173334 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 115151633 115173333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115172886 115173044 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 115175518 115178162 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 115175521 115179058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115175521 115179058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115188062 116153262 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 115188416 115203434 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115188416 115203434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11519041 11519141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 115209341 115212850 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115209342 115212773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115209342 115212773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115212787 115231785 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115212787 115231785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115212842 115231700 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115218536 115243958 Gain and loss Pancreatic cancer SNP array 17952125 chr9 115262358 115399839 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115262358 115399839 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115294731 115294814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 115297001 115428000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 115363151 115363251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 115377948 115378048 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 115396020 115399839 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115437499 115438344 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 1154423 1154867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115502970 115503174 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 115561095 115561520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115568004 116863722 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 115576225 115576285 Gain and loss Pancreatic cancer SNP array 17952125 chr9 115576225 115576419 Gain and loss Pancreatic cancer SNP array 17952125 chr9 115594453 115594541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115624134 115641259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 115652796 115653735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115678380 115858692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115678380 115858692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115678382 115858696 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115746218 115746474 Gain and loss Pancreatic cancer SNP array 17952125 chr9 115785501 116281000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 115791954 115825484 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 115832220 122222082 Loss Bladder cancer array-CGH 21909424 chr9 115841995 115842212 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 115859352 115892369 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 115862231 115880536 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115862231 115880536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115893738 115901158 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 115893741 115901377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115893741 115901377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115900583 115900683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 115907952 115907984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 115911120 115942601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 115957661 116114612 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 115957661 116114612 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 115980 115980 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 chr9 115980 115980 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr9 115995625 116244153 Gain and loss Pancreatic cancer SNP array 17952125 chr9 11599671 11880713 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 116004452 116004512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116011535 116011630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116016711 116016811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116018252 117309109 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 11606127 11606181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 116115391 116115451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 116120209 116133171 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 116121832 116123202 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 116122970 116233146 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr9 116125119 116128458 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116125119 116128458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116132006 116135357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116132006 116135357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116136254 116196506 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 116136254 116200573 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 116136257 116196506 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116136257 116196506 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11617789 11877689 Copy number Schizophrenia - 18511947 chr9 116204181 116307557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116204181 116307557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11621117 12756640 Copy number Normal Birdsuite, version 1.5.2 22087296 chr9 11623179 11880713 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 11623179 11880713 Copy number gain Normal High-resolution SNP genotyping 21211785 chr9 116264777 116264862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116267061 117256871 Gain and loss Pancreatic cancer SNP array 17952125 chr9 116272160 116317370 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 116272876 119488620 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 116308112 116308212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116314 293073 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 116314 373816 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 116340000 123320000 Loss Breast cancer aCGH 21509527 chr9 11634586 11880713 Copy number gain Normal High-resolution SNP genotyping 21211785 chr9 116362412 116362507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116367380 116367453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116375002 116375467 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116389815 116400962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116389815 116400962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116413527 116448517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116413527 116448517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116417556 116417669 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116421437 116453033 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 116430328 116430428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1164414 1164867 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 1164414 1164867 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 1164414 1164867 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 116470345 117392214 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 116498023 116498416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116501593 116501693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116510000 117920000 Loss Acute lymphoblastic leukemia - 21339820 chr9 116529163 116542582 Gain and loss Pancreatic cancer SNP array 17952125 chr9 116552227 116552327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116591421 116608233 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116591421 116608233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116594295 116594367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1 16600000 Gain Normal - 21541734 chr9 116647695 116650686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116692283 116692376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116700000 122000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 116700000 122000000 Copy number Normal - 21701786 chr9 116700000 122000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 116700000 125800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 116700000 129300000 Loss Myeloproliferative neoplasm Affymetrix 250K Nsp or Sty arrays 20015882 chr9 116700000 132500000 Gain Glioblastoma multiforme aCGH 21080181 chr9 116700000 140273252 Amplification Cervical cancer Array CGH and SNP array 16585170 chr9 116700000 140273252 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr9 116700000 140273252 Gain Ependymoma aCGH 19289631 chr9 116703327 116703404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116704945 116732591 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116704945 116732591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11670989 11982033 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 116712967 117916905 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 116718984 116719016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116760456 117221359 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 116822625 116920307 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 116822627 116920307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116822627 116920307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11683285 11683385 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 116897545 116897758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 116897583 116897794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 11692592 11888492 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 116943918 117204744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 116943918 117204744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 116949236 116981194 Amplification Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr9 116970388 119504546 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 116974701 117251019 Gain Retinoblastoma Array-CGH 19183342 chr9 117018943 117027724 Gain Normal 244K array 17666407 chr9 117022899 117023033 Gain and loss Pancreatic cancer SNP array 17952125 chr9 117028476 117031739 Gain Normal 244K array 17666407 chr9 117037255 117037576 Gain Normal 244K array 17666407 chr9 117037801 117973900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 117038951 117039222 Gain and loss Pancreatic cancer SNP array 17952125 chr9 117038951 117039272 Gain and loss Pancreatic cancer SNP array 17952125 chr9 11704731 11705731 Gain Renal cell carcinoma References 21215367 chr9 117118818 117119054 Gain and loss Pancreatic cancer SNP array 17952125 chr9 117118818 117119141 Gain and loss Pancreatic cancer SNP array 17952125 chr9 117149464 117149808 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 11725515 17311574 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 117270228 117461105 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 117288461 117288561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117293968 117363498 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 117317575 117317675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117347951 117349476 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 11737626 11800077 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 11743695 12194748 Copy number Type 2 diabetes ILLumia HumanHap315 BeadChip 21526130 chr9 117453097 117453197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117521895 117521995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117546138 117557607 Gain and loss Pancreatic cancer SNP array 17952125 chr9 117549828 117549934 Gain and loss Pancreatic cancer SNP array 17952125 chr9 117549829 117549934 Gain and loss Pancreatic cancer SNP array 17952125 chr9 117588740 117588840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117690266 117727307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 117690266 117727307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 117700000 122500000 Copy number Neuroticism SNP array 17667963 chr9 117700000 122500000 Deletion Schizophrenia Affymetrix GeneChip 250K SNP array 18940311 chr9 117700000 122500000 Loss Leukemia References 17361228 chr9 117700000 135900000 Gain Gastric cancer 5K BAC array CGH 17908304 chr9 117700000 141213431 Amplification Cervical cancer array CGH and SNP array 17311676 chr9 117700000 141213431 Copy number Endometrioid adenocarcinoma CGH 16974079 chr9 117700000 141213431 Gain Gastric cancer 5K BAC array CGH 17908304 chr9 11771184 11815850 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 117721114 117721214 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117762133 117762233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117785320 117785415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11783343 12164755 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 117850806 117885473 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 117864411 117928590 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 11787265 11817757 Loss Normal 244K array 17666407 chr9 1 17922545 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-620K arrays 21546498 chr9 117924696 117925112 Gain and loss Pancreatic cancer SNP array 17952125 chr9 117928261 117928372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117928267 117928467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 117932165 117934964 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 117955891 118204421 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 117955892 118204420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 117973901 119466600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 117997860 117997960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118001090 118001179 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 118054899 118054999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118069209 119335541 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 118121825 118121925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118124075 118124175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118147352 118175992 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 118172966 118173038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118186161 118186260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118195689 118195776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 118202519 118204420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 118202519 118204420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 118227327 119217138 Amplification Intellectual disability 100k SNP Array 21811512 chr9 118227327 119217138 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr9 118227328 119217138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 118227328 119217138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 118241286 118241599 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 118291339 118421106 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 118293597 118397730 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 118305229 118318134 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 118333385 118465478 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 118356993 118357092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11837349 11837649 Loss Chordoma References 21215367 chr9 118405670 118405770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118458205 118458305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118460475 118479472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 118465317 118487139 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 118469728 118475637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 118479893 118601081 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 11848025 11848125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118489401 118503400 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 118489430 118503400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 118489430 118503400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1 18500000 Deletion Normal - 21541734 chr9 118516885 118517218 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 118516885 118517218 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 118529481 118529581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118549987 118569071 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 118572976 118574193 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 118587132 118605377 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 11861762 11959728 Loss Normal 244K array 17666407 chr9 118693904 118694004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118715367 118715517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118759154 118759254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 118803997 118804097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11880713 12089999 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 118826926 118859894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 118874265 120461292 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 1188902 11803400 Copy number Autism exome sequencing 22495311 chr9 118898901 118984706 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 118982728 118983195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 118982728 118983195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 118983166 118983300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 118999218 118999520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 119008462 119211255 Gain and loss Pancreatic cancer SNP array 17952125 chr9 119041933 119042061 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119061826 119061876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119079085 119079391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 119084709 119085035 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 119158521 119158621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119187506 120177317 Deletion Schizophrenia References 21956041 chr9 119188015 119188105 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119220959 119775245 LOH Normal High-resolution SNP genotyping 21211785 chr9 119226649 119315509 Amplification or deletion Cancer Array CGH 17440070 chr9 119257737 119257837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11927070 12000684 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 1 1928214 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr9 119301694 119346410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 119315558 119315658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11931901 12129870 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 119325172 120824707 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 11936421 11997006 Loss Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 chr9 119368331 119402692 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 1 19400000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chr9 11941871 12005741 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 11941871 12013071 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 119420970 119421039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11942128 12051706 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr9 119476052 119476152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119487358 119487683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 11948972 12164755 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 119506280 119519585 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 119506291 119519589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 119506291 119519589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 119506430 119519587 Copy number Lung cancer - 20668451 chr9 119506430 119519587 Gain or loss Breast cancer - 20668451 chr9 119506430 119519587 Gain or loss Cancer - 20668451 chr9 119506430 119519587 Gain or loss Lung cancer - 20668451 chr9 119506430 119519587 Gain or loss Ovarian cancer - 20668451 chr9 119506430 119519587 Gain or loss Pancreas cancer - 20668451 chr9 119506430 119519587 Gain or loss Prostate cancer - 20668451 chr9 11950647 14666059 Gain Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr9 119510095 119510201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 119523161 119523193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119568427 122209539 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 11957033 11965492 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 119622876 119622976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119666420 121646966 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 119687587 119687737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119728281 119728431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 119746865 119746965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11978659 11989132 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 11978659 11997658 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 11980405 12140471 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 11980405 22923651 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 11981994 11996835 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 11982181 12117088 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr9 11982181 12117088 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 11982592 12117088 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr9 11982592 12117088 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 119870942 119915917 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 119879628 119879663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 11988111 12164755 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 119884963 119885379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 119884963 119885379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1 19900000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 119923997 119969396 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 11998577 12003904 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 12003904 12008050 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 120065208 120065308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12008050 12043772 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 120086811 120086882 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120091349 120091490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12013049 12045458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 120131986 120132086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120157254 120157349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120187408 120187508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120196907 120196989 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120230701 120421991 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120311707 120321126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 120317586 120317686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120333255 120550643 Loss Normal 244K array 17666407 chr9 120372717 120423964 Gain Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chr9 120390519 120390734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120390634 120390734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120390736 120390874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12043772 12073760 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 120442645 120556190 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120562505 120563753 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120565966 120566409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 120583144 120583244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120606005 120635244 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120626975 120627039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120657888 120684760 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120697532 120736728 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120727751 120922549 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 120736735 120737105 Loss or gain Normal 244K array 17666407 chr9 12073760 12088540 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 120738801 120771846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 120744226 120770601 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120764456 120764542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120767941 120768041 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120778712 120778812 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120790930 120790986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120794170 120892108 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12088540 12100055 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 120900832 120900932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 120930128 121019442 Gain and loss Pancreatic cancer SNP array 17952125 chr9 120934001 121768900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 120968728 121171566 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 120968728 121171566 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12098337 12158977 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 12100055 12117088 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 121018601 121381738 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 121019970 121043646 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121032055 121032155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121038 179075 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 121038 179075 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 121038 179075 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 121044994 121045267 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121052110 121052229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 121067468 121067543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121080508 121081910 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121109961 121174674 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121117036 121117136 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121123391 121123882 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121129076 121129120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12117088 12138728 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 121180911 121212099 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121183179 121189964 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121314851 121314951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121331124 121331223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121331227 121344460 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 121336351 121336653 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121378015 121378115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121385891 121385976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121418588 121418679 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 121421756 121437091 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 121541203 121627361 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121569601 121573800 Deletion Glioma mate-paired sequence 20126413 chr9 121571656 121571973 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 121645245 121945754 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-627K arrays 21546498 chr9 121645488 121645588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121663846 121935439 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121687046 121687155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 121689357 121689514 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 121768901 122350800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 121844100 123591556 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 121851959 121886181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 121876192 122778674 LOH Normal High-resolution SNP genotyping 21211785 chr9 121882347 121901329 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 121884175 121901329 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 121956919 121957019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 121985894 122001652 Gain and loss Pancreatic cancer SNP array 17952125 chr9 121993653 122025927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 122000000 125800000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 122000000 125800000 Copy number Normal - 21701786 chr9 122000000 125800000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr9 122000000 129300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 1 2200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 1 2200000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr9 1 2200000 Copy number Lynch syndrome Illumina BeadArrays and the GoldenGate assay 18415027 chr9 1 2200000 Copy number Retinoblastoma Fluorescence In Situ Hybridization(FISH) 21504564 chr9 1 2200000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 1 2200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 1 2200000 Deletion prenatal diagnosis Multiplex ligation probe amplification 20453657 chr9 1 2200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 1 2200000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 1 2200000 Gain Williams-beuren syndrome Affymetrix GeneChip Human Mapping NspI Array 18553513 chr9 1 2200000 Loss Disorders of sex development - 21048976 chr9 1 2200000 Loss Pilocytic astrocytoma Array CGH 18622384 chr9 1 2200000 Loss Pilomyxoid astrocytoma Array CGH 18622384 chr9 122001744 122041915 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122005039 122133808 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 122044416 122070538 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122047078 122047149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122047748 123011586 LOH Normal High-resolution SNP genotyping 21211785 chr9 122047748 123071432 LOH Normal High-resolution SNP genotyping 21211785 chr9 122081843 122106672 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122106701 122165294 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122157174 122157256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122158609 123379533 LOH Normal High-resolution SNP genotyping 21211785 chr9 122158609 123381669 LOH Normal High-resolution SNP genotyping 21211785 chr9 122161031 122193790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 122173417 123384456 LOH Normal High-resolution SNP genotyping 21211785 chr9 122175767 123013518 LOH Normal High-resolution SNP genotyping 21211785 chr9 122178285 122771118 LOH Normal High-resolution SNP genotyping 21211785 chr9 122178285 122878348 LOH Normal High-resolution SNP genotyping 21211785 chr9 122185523 122185623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122190967 122382258 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122190968 122382258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122190968 122382258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122191507 123462916 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 122196481 123171442 LOH Normal High-resolution SNP genotyping 21211785 chr9 122196481 123370193 LOH Normal High-resolution SNP genotyping 21211785 chr9 122212783 122237535 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122226619 122885090 LOH Normal High-resolution SNP genotyping 21211785 chr9 122226619 123136624 LOH Normal High-resolution SNP genotyping 21211785 chr9 122226619 123427304 LOH Normal High-resolution SNP genotyping 21211785 chr9 12225048 12612041 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 122252189 122252286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122255798 122255898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122256648 122256748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12225978 13227999 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 122295058 122295158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122303581 122348497 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 122317522 122355930 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122318791 122319759 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122333821 123386734 LOH Normal High-resolution SNP genotyping 21211785 chr9 122350801 123008600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 122360358 122360458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122360974 122361915 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122368191 122369129 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122382671 122817077 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 122395057 122424279 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122402911 122516433 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122402912 122516457 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122402912 122516457 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122409381 122410310 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122436538 122436672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 122449869 122450633 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122456571 122457515 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122459581 122489900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 122470412 122471365 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122485777 123339421 LOH Normal High-resolution SNP genotyping 21211785 chr9 122490450 123071432 LOH Normal High-resolution SNP genotyping 21211785 chr9 122500000 141213431 Gain Gastric cancer 5K BAC array CGH 17908304 chr9 122503549 122504481 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122516963 122517937 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122522772 122524062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122527428 122527528 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122549402 122549502 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122559074 122595561 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122559075 122595561 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122559075 122595561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122565823 122566758 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122566271 123320446 LOH Normal High-resolution SNP genotyping 21211785 chr9 122591681 122592616 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122592661 123320446 LOH Normal High-resolution SNP genotyping 21211785 chr9 122600367 122601666 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122600367 122601666 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122610767 122633433 Loss Normal Quantitative PCR 18989455 chr9 122617595 122645027 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122617595 122645027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122618152 122645027 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122630766 122631728 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122641956 122642906 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122657751 122679427 Copy number Gastric cancer Human cDNA microarrays 17229543 chr9 122657752 122679427 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122657752 122679427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122658001 122733000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 122661776 122670464 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122671673 122679427 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122673809 123370193 LOH Normal High-resolution SNP genotyping 21211785 chr9 122673809 123577989 LOH Normal High-resolution SNP genotyping 21211785 chr9 122686309 123138356 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 122686309 123462224 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 122689391 122747055 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122704492 122728994 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122704493 122730868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122704493 122730868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122746258 122746328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122749890 122755163 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122754434 122852375 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122754437 122852375 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122754437 122852375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122759933 122773333 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122761694 122771523 Loss Normal 244K array 17666407 chr9 122771783 123414660 LOH Normal High-resolution SNP genotyping 21211785 chr9 12277320 12278228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122782868 122946250 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122787823 122787926 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122787823 122787927 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12279267 12279361 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122793038 122793138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122845785 122845885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122854305 122854393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122857324 122858324 Gain Renal cell carcinoma References 21215367 chr9 12287323 12289233 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 12287323 12289233 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 12287323 12289233 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 122876400 122877449 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122876962 122979709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122876962 122979709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122878551 122878975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122890394 122979707 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122892137 122892276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 122899909 122899994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12290266 12290451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12290270 12290451 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12290276 12290451 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1229068 12282258 Copy number Autism exome sequencing 22495311 chr9 122939341 122939436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122952309 122952812 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122966874 123078800 Gain and loss Pancreatic cancer SNP array 17952125 chr9 122966980 122967080 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 122980236 123004186 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 122980237 123003913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 122980237 123003913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 122983642 122984996 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 123000890 123001890 Gain Renal cell carcinoma References 21215367 chr9 123005258 123005533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123005261 123005534 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123008601 124627800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 123009896 123134942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 123009896 123134942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123040775 123042177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123053331 123053431 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123054976 123055183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123063314 123063369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123069501 123131500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 123083921 123118031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 123085238 123085315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 123101899 123134941 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 123107036 123108808 Gain and loss Pancreatic cancer SNP array 17952125 chr9 123128235 123128351 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123141175 123172366 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 123141178 123172366 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 123141178 123172366 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123167493 123200809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 123198003 123222157 Gain and loss Pancreatic cancer SNP array 17952125 chr9 123221487 123722640 Gain and loss Pancreatic cancer SNP array 17952125 chr9 123226529 123226629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123257140 123302127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 123257140 123302127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123296618 123296918 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123296618 123296920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123300028 123300128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123303639 123303739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123321916 123322372 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123345501 123553500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 123368983 123587630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 123368983 123587630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123369219 123587630 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 123451316 123451617 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 123536183 123536498 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 123544884 123584753 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 123553501 123568000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 123568001 123589000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 123591339 123591439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123591556 125885092 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 123624071 123895706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 123624071 123895706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123667748 124205046 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 123667748 124645529 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 123676398 123701626 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 123681823 123681955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 123697860 123697992 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 123767488 123767588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123808764 123808844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123853443 123874990 Gain and loss Pancreatic cancer SNP array 17952125 chr9 123858464 123858544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 123893292 123893367 Gain and loss Pancreatic cancer SNP array 17952125 chr9 123894894 123898335 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 123910501 123936000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 123912656 123912721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 123936001 124019000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 123940901 123951004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 123946161 123961919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 123946161 123961919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 123962011 124002182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 123962011 124002182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124002426 124002526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124004054 124006210 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr9 124004677 124031041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124004677 124031041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124004678 124030840 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 124019001 124029500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 124043605 124066911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124043605 124066911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124043676 124043769 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124059083 124103884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 124060810 124060910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124062912 124063012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12406646 12407646 Loss Chordoma References 21215367 chr9 124066756 124125564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124066756 124125564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124066967 124125563 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 124072350 124072446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124073180 124073271 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124086757 124574191 Gain Normal Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr9 124099440 124194271 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124135501 124209000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 124164499 130854667 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 124173049 124197802 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 124173050 124197802 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124173050 124197802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124180736 124182229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 12418901 12419901 Loss Renal cell carcinoma References 21215367 chr9 124192394 124192565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124195299 124257275 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124196102 124198415 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124204757 124645529 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 124209751 124398737 Gain Autism qPCR 20531469 chr9 124279058 124280026 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124279058 124280026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124292977 124325168 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12430222 12615571 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr9 124309774 125066299 LOH Normal High-resolution SNP genotyping 21211785 chr9 124312888 124316197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124312888 124316197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124312901 124313843 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 124321241 124322182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124321241 124322182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124323070 124349253 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124328458 124329396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124328458 124329396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124355270 124368291 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124355270 124368291 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124357306 124468596 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 124361960 124613130 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124364474 124387994 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 124369648 124370577 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124369648 124370577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124381057 125892948 LOH Normal High-resolution SNP genotyping 21211785 chr9 124383457 124383510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124387454 125892948 LOH Normal High-resolution SNP genotyping 21211785 chr9 124399877 124905818 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 124410136 124410900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124415956 125892948 LOH Normal High-resolution SNP genotyping 21211785 chr9 124416753 125892948 LOH Normal High-resolution SNP genotyping 21211785 chr9 124416838 124417782 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124416838 124417782 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124417948 125892948 LOH Normal High-resolution SNP genotyping 21211785 chr9 124421385 124421440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124430679 124431635 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124430679 124431635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124430771 125892948 LOH Normal High-resolution SNP genotyping 21211785 chr9 124431126 125119671 LOH Normal High-resolution SNP genotyping 21211785 chr9 124432816 124468023 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 124434816 125138810 LOH Normal High-resolution SNP genotyping 21211785 chr9 124448992 124449291 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124462465 125318221 LOH Normal High-resolution SNP genotyping 21211785 chr9 124463666 124464748 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124463666 124464748 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124477230 124478204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124477230 124478204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124488033 124490472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124526090 124527025 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124526090 124527025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124534275 124534384 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124535543 124535631 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124548982 124549064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124551840 124552883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124551840 124552883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124552245 124552245 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 124580015 124580072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124580411 125816045 LOH Normal High-resolution SNP genotyping 21211785 chr9 124590970 124591995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124590970 124591995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124602223 124603173 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124602223 124603173 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124618991 124656718 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124620443 124630661 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 124620450 124630688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124620450 124630688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124627801 125083200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 124639657 124640920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124646656 124707383 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124646656 124707383 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124651552 124707383 Copy number Lung cancer - 20668451 chr9 124651552 124707383 Gain or loss Breast cancer - 20668451 chr9 124651552 124707383 Gain or loss Cancer - 20668451 chr9 124651552 124707383 Gain or loss Lung cancer - 20668451 chr9 124651552 124707383 Gain or loss Ovarian cancer - 20668451 chr9 124651552 124707383 Gain or loss Pancreas cancer - 20668451 chr9 124651552 124707383 Gain or loss Prostate cancer - 20668451 chr9 124658146 124658245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124682313 124682423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124688374 124688429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124695362 124699403 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124699717 124703794 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124703963 124719565 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124710157 124715430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124710157 124715430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124720198 124733600 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 124720200 124733600 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124720200 124733600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124720202 124782932 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124729244 124729382 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124729314 124729382 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124743109 124906966 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124743109 124906966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124748088 124748194 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124793952 124907893 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124797507 124797607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124810363 124810777 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124831481 124831853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124836627 124837796 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124836627 124837796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124836666 124837716 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 12483937 12484013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124846069 124846158 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124863945 124865412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124873670 124873750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124886421 125892948 LOH Normal High-resolution SNP genotyping 21211785 chr9 124897698 128495943 Deletion Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 chr9 124913646 124913743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124926807 125070664 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 124927139 125070718 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 124927139 125070718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 124947265 124947371 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124947265 124947415 Gain and loss Pancreatic cancer SNP array 17952125 chr9 124988647 124988727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 124990961 125031619 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125036481 125037654 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125042372 125075839 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125066880 125067030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125067303 125069075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 125073731 125073831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125076688 125083163 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125083201 125437400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 125105415 125105923 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125114501 125156000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 125143942 125206842 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125145753 125145859 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125145754 125145859 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125156001 125186500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 125158269 125180853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 125158269 125180853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 125170700 125757209 LOH Normal High-resolution SNP genotyping 21211785 chr9 125181754 125732252 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 125181754 125732252 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 125186501 125296500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 125190651 125313623 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr9 125204625 125204703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 125229023 125229111 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125267617 125267730 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125267622 125267709 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125271843 133650036 Gain Prostate cancer Array CGH 18632612 chr9 125280214 125788255 LOH Normal High-resolution SNP genotyping 21211785 chr9 125280306 125549036 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125354735 125355039 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125387484 125387557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 125415829 125432223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 125415860 125444113 Gain or loss Breast cancer - 20668451 chr9 125415860 125444113 Gain or loss Cancer - 20668451 chr9 125415860 125444113 Gain or loss Lung cancer - 20668451 chr9 125415860 125444113 Gain or loss Ovarian cancer - 20668451 chr9 125415860 125444113 Gain or loss Pancreas cancer - 20668451 chr9 125415860 125444113 Gain or loss Prostate cancer - 20668451 chr9 125428060 125428149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125437401 126373500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 125437506 125438461 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12546834 12549646 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 125481501 125483500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 1 25500000 Deletion Medulloblastoma SNP arrays 21979893 chr9 1 25500000 Loss Glioblastoma multiforme aCGH 21080181 chr9 1 25500000 Loss Normal Human genome CGH 52k ARRAY PLATFORM 22144094 chr9 125561320 125561875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 125581762 125581849 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125587811 125588200 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125589261 125808921 Gain and loss Pancreatic cancer SNP array 17952125 chr9 125639775 125665330 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 125644985 125664214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 125645136 125645786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 125645530 125671528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 125650688 125669365 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 125651318 125657088 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 125654528 125671069 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 12569008 12569122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125698693 138256276 Gain Prostate cancer Array CGH 18632612 chr9 125775333 125775815 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 125776501 125813000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 125800000 129300000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 125800000 129300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 125800000 130300000 Deletion Ovarian cancer MCG Whole Genome Array-4500 18593905 chr9 125800000 130300000 Loss Breast cancer oligonucleotide CGH arrays 19602461 chr9 125800000 132500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 125800000 132500000 Copy number Ohtahara syndrome - 21631463 chr9 125800000 132500000 Copy number West syndrome - 21631463 chr9 125800000 132500000 Microdeletion Developmental delay - 20493457 chr9 125800000 132500000 Microdeletion Spastic Quadriplegia - 20493457 chr9 125800000 132500000 Microdeletion West syndrome - 20493457 chr9 125800000 140273252 Gain Breast cancer Array CGH 16608533 chr9 125800000 140273252 Gain Metanephric adenoma Oligo aCGH 20802469 chr9 125800000 140273252 Gain Normal Human genome CGH 76k ARRAY PLATFORM 22144094 chr9 125800000 141213431 Deletion Adenoid cystic carcinoma Array CGH 18698036 chr9 125800000 141213431 Gain Gastric cancer 5K BAC array CGH 17908304 chr9 125800000 141213431 Gain Salivary gland adenoid cystic carcinoma Genome-wide scanning BAC array 17545515 chr9 125800000 141213431 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr9 125813001 125818500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 125813710 125835257 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 125813710 125835257 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 125818501 126059000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 125835780 125835880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125845234 125845309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125853372 125853465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125853559 125853634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12587433 12588433 Gain Renal cell carcinoma References 21215367 chr9 125878742 125878842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125885092 128124020 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 125918362 125918462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125923428 127623518 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 chr9 125944644 125976399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 125955511 126116512 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 125967496 125967596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 125976053 125982206 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 12598203 12599203 Gain Chordoma References 21215367 chr9 12600410 13830635 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 126007231 126373818 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 126007603 126031006 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 126044447 126065206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 126048386 126048418 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126059001 126158500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126059706 126155407 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126059706 126155407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126072206 126074351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126094519 126154538 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 126110782 126110842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12611942 12774092 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 126155566 126217542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126155566 126217542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126168682 126348873 Gain and loss Pancreatic cancer SNP array 17952125 chr9 126202295 126202395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126209453 126209603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126227502 126246506 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 12623219 12623308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126233037 127856872 LOH Normal High-resolution SNP genotyping 21211785 chr9 126236017 126236072 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126248501 126261000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126253244 126279200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126253244 126279200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126269501 126316500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126271770 126288955 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 12627532 12713131 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr9 126276129 126276227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126283337 126309520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126283337 126309520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126295107 127787043 LOH Normal High-resolution SNP genotyping 21211785 chr9 126316501 126321500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126319380 126573410 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126319380 126573410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126319567 126319667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126324523 126573397 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 126362155 126362255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126370547 126371176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 126373501 127157800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126400807 126401680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126409259 126409556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126409259 126409558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126419242 126419332 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126456352 126538284 Gain and loss Pancreatic cancer SNP array 17952125 chr9 126486375 126531468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 126494542 126494651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126495810 126495898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126529794 126529894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126564916 126564996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126565830 126565930 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126571501 126579000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126579001 126654000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126579257 126616980 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 126579258 126616978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126579258 126616978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126646859 126677055 Gain and loss Pancreatic cancer SNP array 17952125 chr9 126654001 126661000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126655576 126659981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126655576 126659981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12665566 12666566 Gain Renal cell carcinoma References 21215367 chr9 126659979 126664061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126659979 126664061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126661001 126698000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 126664230 126679824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126664230 126679824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126671304 126679517 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 126680394 126743207 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 126680469 126743199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126680469 126743199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126689526 126689649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126699000 126733138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 126702499 126722747 Gain and loss Pancreatic cancer SNP array 17952125 chr9 126736115 126738427 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 126744710 126945618 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 126754201 126945596 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126754201 126945596 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126754887 126945596 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 126756607 127064997 Gain and loss Pancreatic cancer SNP array 17952125 chr9 126758047 126758147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126770630 126771044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126806336 126806425 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126818815 126853736 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 126827906 126832987 Amplification or deletion Cancer Array CGH 17440070 chr9 12683385 12700266 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 12683435 12700249 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12683435 12700290 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 12683435 12700290 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 12683435 12700290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126849789 126849870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126873687 126873787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126889636 127018951 Duplication small cell lung cancer array-CGH 20016488 chr9 126895347 127007739 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 126896914 126897004 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126907532 126907707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126926574 126926674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126929182 126964598 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12693386 12710266 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 12693386 12710266 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 12693386 12710266 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 126948672 126992039 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 126951230 126991886 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 126951230 126991886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126952753 126953689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 126967971 126968071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 126996749 126997922 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127002645 127036258 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 127002645 127036258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127014399 140273252 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 127036955 127043430 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 127036955 127043430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127040239 127040239 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 127041069 127041069 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 127045191 127045236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127063929 127169307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 127063929 127169307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127063931 127167111 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 127065682 127066199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127075635 127075980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127106020 127106126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127106415 127235380 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127118300 127118350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127157801 127360200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 127174434 127174792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12719865 13215508 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr9 127204001 127242000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 12721103 12721203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12721979 12722170 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12721979 12722170 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127239017 127249717 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127239493 127509334 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 127239494 127509334 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 127239494 127509334 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127248608 127248692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127255801 127699700 Deletion Glioma mate-paired sequence 20126413 chr9 127257180 127257255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127266215 127287204 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127280351 130106194 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 127283387 127283451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 127289509 127293238 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127290334 127290470 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127290335 127290470 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127293354 127345332 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127312708 127312818 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127312712 127312818 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127314999 127315307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127315002 127315306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127347179 127420822 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127360201 127537300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 12737450 12738450 Loss Renal cell carcinoma References 21215367 chr9 127376763 127376833 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127386336 127386436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127397769 127398728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127398165 127494494 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr9 127428500 130252600 Gain Prostate cancer Array CGH 18632612 chr9 127446358 127446458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127454122 127534549 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127542379 127543672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 12754760 12755045 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12754760 12755045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127548372 127769477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 127548372 127769477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127548822 127555854 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127550298 127769474 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 127555777 127566706 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127557912 127573433 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127573358 127577146 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127580151 127620602 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12762732 12763732 Gain Renal cell carcinoma References 21215367 chr9 127627885 127631917 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12764265 12764365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127644729 127655888 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12765012 12813058 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 12765012 12813058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 12765012 12813058 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12765012 12813058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 127656848 127696538 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127658412 127658999 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127674470 127674568 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127674471 127674555 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127675490 127751276 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127675786 127675888 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127675787 127675870 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127689366 127689461 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12770295 12899312 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 127703928 127704028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 127709673 127716450 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127727154 127739814 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127739701 128372200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 127749720 127758855 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12775012 12823059 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 12775012 12823059 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 12775012 12823059 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 127753990 127787821 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 127763364 127769324 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127771001 127902000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 127772096 127783973 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127776932 127780317 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127782714 127792547 Deletion T-cell lymphomas Array-CGH 22341440 chr9 127782714 127792547 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127807710 127808168 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127848768 127848825 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127902001 128284000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 127903074 127908945 Deletion T-cell lymphomas Array-CGH 22341440 chr9 127903074 127908945 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127933297 127951077 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127940371 127951078 Deletion T-cell lymphomas Array-CGH 22341440 chr9 127948480 127983564 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 127950044 127972347 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 127962527 127970266 Deletion T-cell lymphomas Array-CGH 22341440 chr9 127962527 127970295 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127970381 127972333 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127971890 127994118 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127971890 127994378 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127977303 127994118 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127977303 127994378 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127977496 127994118 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127977496 127994378 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127977496 127999510 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127978586 127994378 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 127984106 127994130 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 127991272 127995288 Gain and loss Pancreatic cancer SNP array 17952125 chr9 127991272 127996066 Deletion T-cell lymphomas Array-CGH 22341440 chr9 128000000 130000000 Loss Renal cell carcinoma Affymetrix 100K SNP mapping arrays 18194544 chr9 128002189 128005757 Deletion T-cell lymphomas Array-CGH 22341440 chr9 128002189 128005759 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128007898 128046216 Deletion T-cell lymphomas Array-CGH 22341440 chr9 128007899 128033405 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128010895 128018263 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 128015132 128016523 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 128025510 128181472 Amplification or deletion Cancer Array CGH 17440070 chr9 128045212 128097069 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128045241 128097073 Deletion T-cell lymphomas Array-CGH 22341440 chr9 128050775 128050867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128055180 128055280 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 12808127 12808197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128086554 128086663 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128097663 128117822 Deletion T-cell lymphomas Array-CGH 22341440 chr9 128097663 128117822 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1 28100000 Loss Breast cancer Array CGH 16608533 chr9 128100574 128100732 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128117979 128130797 Deletion T-cell lymphomas Array-CGH 22341440 chr9 128118055 128130821 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128124020 129243484 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 128128949 128309140 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 128128949 128309140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128150938 128164263 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128164369 128175905 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128182394 128203055 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128213194 128232566 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128222000 137822000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr9 128222139 128222222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128234451 128234547 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12824128 12824223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128248572 128248639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128253599 128279177 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128260025 128347240 Gain Stenocardia MACArray Karyo 45K BAC-chips 21860640 chr9 128260025 128347240 Gain Vasospasm MACArray Karyo 45K BAC-chips 21860640 chr9 128284001 128299000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 128285001 128289000 Deletion Glioma mate-paired sequence 20126413 chr9 128297962 128342792 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128299001 128306500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 128306501 128318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 128318001 128411000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 128333015 128333091 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128346533 128384124 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128372201 129156500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 128378630 128378730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128385748 128385809 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128394423 128475491 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128411001 128509000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 128416547 128416806 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr9 128416550 128498649 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 128416550 128498649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128436629 128436729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128475494 128498620 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12850913 12851013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128525729 128536497 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128544356 128562752 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128554591 129942311 LOH Normal High-resolution SNP genotyping 21211785 chr9 128559569 128562986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 128560616 128561879 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 1285614 3786061 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 128562713 128565962 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128571623 128613752 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128591191 128591292 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128607126 128639203 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 128607126 128639203 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128629165 128652264 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128660307 128664509 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128661486 128671654 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128662764 128687977 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 128662765 128687978 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 128662765 128687978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128665039 128700248 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 128674777 128723886 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128679058 129171561 Copy number Lung cancer paired-end sequencing 18438408 chr9 128680000 129380000 Loss Breast cancer aCGH 21509527 chr9 128716874 129025264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 128716874 129025264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128727846 128758932 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12875320 12875413 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12875320 12875413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12875320 12875416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128762728 128783870 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128787520 128789136 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128789550 128848928 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128849868 128870133 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128866305 128972214 Indels Normal Affymetrix and Illumina arrays 20811451 chr9 128878478 128913904 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128878693 130736916 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr9 12887991 12888307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 128884364 128884464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128889449 128924865 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 128889449 128924865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 128903454 128903562 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128922944 128932270 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128924001 128925500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 128925501 128997000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 128936629 128952637 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128952798 128990777 Gain and loss Pancreatic cancer SNP array 17952125 chr9 128980161 128980360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128984756 128984856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 128997001 129015000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129000000 130000000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr9 1 29000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr9 129005495 129006417 Amplification or deletion Cancer Array CGH 17440070 chr9 129015001 129028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129019253 129019885 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129045207 129195647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129045207 129195647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129072980 129074636 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 129102193 129103082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129114926 129123760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 129116968 129802661 LOH Normal High-resolution SNP genotyping 21211785 chr9 1291489 1299416 Copy number Autism exome sequencing 22495311 chr9 129149307 129173435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 129156501 130952800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129162849 129166738 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129171610 129171693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129178357 129180128 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129180524 129180607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129186366 132976428 Copy number Lung cancer paired-end sequencing 18438408 chr9 129190108 129190197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129195858 129198170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 129198501 129204500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129199286 129209955 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129199286 129209955 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129204501 129208000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129208001 129252500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129212003 129212294 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129221440 129225897 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 129223512 129223612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129226482 129247471 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129226482 129247471 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129249775 129253505 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 129249776 129253507 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129249776 129253507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129250601 129250730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129252501 129304500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129253608 129305599 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129253608 129305599 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129256051 129256151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129257935 129258035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129259701 129259790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129272975 129273087 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129277044 129385135 Amplification or deletion Cancer Array CGH 17440070 chr9 129296291 129296391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129300000 132500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 129300000 132500000 Copy number Normal - 21701786 chr9 129300000 132500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 129300000 132500000 Duplication Heart disease Illumina 621Quad Beadchip platform 21282601 chr9 129300000 132500000 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr9 129300000 134900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 129300000 134900000 Copy number Walker-Warburg syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr9 129300000 140273252 Amplification Esophageal squamous carcinoma CGH 21637470 chr9 129300000 140273252 Copy number Normal - 21701786 chr9 129300000 140273252 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr9 129300000 140273252 Deletion Disorders of sex development - 22290220 chr9 129300000 140273252 Deletion Kleefstra Syndrome array-CGH 21538692 chr9 129300000 140273252 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 chr9 129300000 140273252 Deletion T-cell acute lymphoblastic leukemia FISH 20065082 chr9 129300000 140273252 Duplication Abnormal phenotypes Array-CGH 18644119 chr9 129300000 140273252 Duplication T-cell acute lymphoblastic leukemia FISH 20065082 chr9 129300000 140273252 Gain Cancer array-based techniques 21183584 chr9 129300000 140273252 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr9 129300000 140273252 Loss Glioblastoma multiforme aCGH 21080181 chr9 129300000 140273252 Translocation Chronic myelomonocytic leukemia References 16760666 chr9 129304501 129312500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129307438 129381089 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 129307438 129381089 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 129307440 129381089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129307440 129381089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129312501 129373500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129373501 129507000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129375646 129461836 Deletion Epilepsy Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr9 129375646 129461836 Deletion Epileptic encephalopathy Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr9 129375646 129461836 Deletion Hypotonia Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr9 129375646 129461836 Deletion Mental retardation Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr9 129375646 129461836 Deletion Tremor Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr9 129414389 129494816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129414389 129494816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129443808 129443901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129454060 129462603 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129468045 129477769 Gain and loss Pancreatic cancer SNP array 17952125 chr9 12947309 12948309 Gain Chordoma References 21215367 chr9 129476437 129483998 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129506775 129536272 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129506775 129536272 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129507001 129785500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129507474 129564503 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129509092 129517924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129509092 129517924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129516049 129517757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129516049 129517757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129518178 129533700 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 129533625 129537394 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129533625 129537394 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129540416 129580869 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 129540418 129580795 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 129540419 129580740 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129540419 129580740 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12954583 12954615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129579204 129594975 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129580164 129594898 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129587898 129592177 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129587898 129592177 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129588125 129592873 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 129594166 129626068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 129598755 129780195 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr9 129604975 129616377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129604975 129616377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129617111 129656868 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 129617115 129656805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129617115 129656805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129618723 129618823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129621586 130877432 LOH Normal High-resolution SNP genotyping 21211785 chr9 12962842 12963437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12962851 12963488 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129631492 129656749 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 129634735 129634843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129636063 129636142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129643217 129643320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129644283 129644383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129644986 129653114 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129645960 132672275 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 129654776 129665967 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129668580 129679843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129669125 129677113 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129677303 129723661 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129687421 129701753 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129687421 129701753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129687421 129707448 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 129709985 129719126 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 129709987 129719126 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129709987 129719126 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129722979 129732987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129722979 129732987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129723630 129732897 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 129725026 130700428 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 12972559 12973504 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 12972559 12973504 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 12972559 12973504 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 129737199 129739956 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129737199 129739956 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129737663 129884995 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129742679 129782613 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129742679 129782613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 12975640 12976640 Loss Chordoma References 21215367 chr9 129763862 129763953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 129769963 129770063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129785501 129900000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129794833 129794933 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129800949 129801049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129809035 129809092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129821717 129895358 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 129863341 129869212 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129863341 129869212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129870299 129911345 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 129870300 129911345 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129870300 129911345 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129872463 131116778 LOH Normal High-resolution SNP genotyping 21211785 chr9 129895539 129979849 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129896127 130523859 LOH Normal High-resolution SNP genotyping 21211785 chr9 129900001 129931000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129915655 129915728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129920968 130549634 LOH Normal High-resolution SNP genotyping 21211785 chr9 129922792 129930533 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 129922794 129930533 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129922794 129930533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129926892 136017876 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 129939201 129943300 Deletion Glioma mate-paired sequence 20126413 chr9 129940501 129957000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129951171 129955555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129957001 130188000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 129962359 129966028 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 129962360 129966028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129962360 129966028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129962639 129962742 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129965865 129965936 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129968164 130006483 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 129968165 130006483 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 129968165 130006483 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 129974247 129974347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 129975837 130010429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 129977614 130021876 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 129982443 129986052 Gain and loss Pancreatic cancer SNP array 17952125 chr9 129999857 130000857 Gain Osteosarcoma References 21215367 chr9 130005480 130057348 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130005480 130057348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130013892 130724170 LOH Normal High-resolution SNP genotyping 21211785 chr9 130014062 130015062 Gain Osteosarcoma References 21215367 chr9 130014411 130078454 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130014643 132618574 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 130021584 130021667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130035300 131154764 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 130035844 130570006 LOH Normal High-resolution SNP genotyping 21211785 chr9 130035844 130998310 LOH Normal High-resolution SNP genotyping 21211785 chr9 130038180 131205231 LOH Normal High-resolution SNP genotyping 21211785 chr9 130043790 130043867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130046821 130046930 Copy number Acute myeloid leukemia BAC aCGH 20962326 chr9 130046821 130046930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130057932 130078089 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130057932 130078089 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130059807 130059889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130060807 130061071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130060841 130060999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130077541 130091088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130077541 130091088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130095679 130095779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130103206 130126476 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 130111216 130124518 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130111224 130124518 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130111224 130124518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13011698 13012891 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130124636 130136172 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130140422 130140686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130142661 130163322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130142661 130163322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130173461 130192834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130173461 130192834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130188001 130241500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130194718 130194814 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130213304 140273252 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr9 130213866 130239447 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130213866 130239447 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13021693 13066017 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13021693 13066017 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13021693 13066017 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 130225782 131730434 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 130239941 130240138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 130246090 131039643 LOH Normal High-resolution SNP genotyping 21211785 chr9 130247101 130248728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130258157 130303059 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130258157 130303059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130258252 130303060 Amplification Intellectual disability 100k SNP Array 21811512 chr9 130259107 130296935 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130290682 130324522 Gain and loss Pancreatic cancer SNP array 17952125 chr9 13029693 13029772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130300000 133500000 Deletion Cardiac fibroma FISH 18329553 chr9 130300000 135900000 Deletion Acute myeloid leukemia FISH, Real-Time PCR 19166587 chr9 130300000 135900000 Deletion T-cell acute lymphoblastic leukemia FISH, Real-Time PCR 19166587 chr9 130300000 135900000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr9 130300000 141213431 Copy number Tuberous sclerosis References 19566914 chr9 130300000 141213431 Gain and amplification Multiple myeloma Array CGH 16616336 chr9 130300000 141213431 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 chr9 130300000 141213431 Gain Sudden cardiac death CGH 19188705 chr9 130300000 141213431 Loss Myoepithelioma Array CGH 18604193 chr9 130305207 130305506 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130305208 130305506 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130306791 130344401 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130306792 130344398 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130306792 130344398 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130311520 131652310 Deletion Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr9 130327690 130386605 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 130329943 130330000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130335223 130339062 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130349862 130406214 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130352994 130353994 Loss Cancer Human 24 color M-FISH 21215367 chr9 130352994 130353994 Loss Osteosarcoma References 21215367 chr9 130354687 130435762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130354799 130354895 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130361109 130875427 LOH Normal High-resolution SNP genotyping 21211785 chr9 130375303 130375400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 13039192 13040192 Gain Renal cell carcinoma References 21215367 chr9 130396227 130419238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 130426501 130436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130432414 131425779 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 130435760 130458950 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130435760 130458950 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 130435761 130458950 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130435761 130458950 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130436501 130439500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130439501 130452000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130450000 132410000 Gain Breast cancer aCGH 21509527 chr9 130451538 130454280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 130451751 130456241 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 130451751 130456241 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 130452001 130454000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130453098 130454247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130454001 130507500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130456177 131048609 LOH Normal High-resolution SNP genotyping 21211785 chr9 130456177 131095121 LOH Normal High-resolution SNP genotyping 21211785 chr9 130458538 130461087 Loss Normal 244K array 17666407 chr9 130461272 130597774 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 130465585 130597774 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 130473003 130473092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130484622 130543293 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130485754 130498496 Gain or loss Breast cancer - 20668451 chr9 130485754 130498496 Gain or loss Cancer - 20668451 chr9 130485754 130498496 Gain or loss Lung cancer - 20668451 chr9 130485754 130498496 Gain or loss Ovarian cancer - 20668451 chr9 130485754 130498496 Gain or loss Pancreas cancer - 20668451 chr9 130485754 130498496 Gain or loss Prostate cancer - 20668451 chr9 130485996 130498488 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130485996 130498488 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130491329 130498496 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130504622 130523020 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130504623 130523019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130504623 130523019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130507501 130509500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130509501 130514500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130513686 130513786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130514501 130524500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130522969 130526229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130522969 130526229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130524501 130620500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130531890 130574019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130531890 130574019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130546221 130546301 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1305487 13035761 Copy number Autism exome sequencing 22495311 chr9 130551458 130551559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13055939 13056939 Loss Chordoma References 21215367 chr9 130569535 130587938 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130570006 131092327 LOH Normal High-resolution SNP genotyping 21211785 chr9 130580049 130580148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130582053 130582135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130589398 130612524 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130589398 130612524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130596608 130597592 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 130598716 130609800 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130619261 130792614 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130620090 130624673 Loss Normal 244K array 17666407 chr9 130620501 130626500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130620600 130624776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130620600 130624776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130624165 130631906 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130624167 130631906 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130624167 130631906 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130626501 130750000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130628969 131147652 LOH Normal High-resolution SNP genotyping 21211785 chr9 130628969 131152627 LOH Normal High-resolution SNP genotyping 21211785 chr9 130635212 130684175 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130635213 130684175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130635213 130684175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130637252 130637324 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130684268 130720136 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130684268 130720136 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130687000 141213431 Amplification Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr9 130689850 130689869 Microdeletion Developmental delay amplified by GenomiPhi version 2;high-resolution melting curve (HRM) analysis 20493457 chr9 130689850 130689869 Microdeletion Spastic Quadriplegia amplified by GenomiPhi version 2;high-resolution melting curve (HRM) analysis 20493457 chr9 130689850 130689869 Microdeletion West syndrome amplified by GenomiPhi version 2;high-resolution melting curve (HRM) analysis 20493457 chr9 130722995 130744141 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130722995 130744141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130724382 130744141 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130734720 130734852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 130736916 138166210 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 130737915 138303776 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 130739101 130743500 Deletion Glioma mate-paired sequence 20126413 chr9 130742706 130742739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130747630 130749719 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130747630 130749719 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130749798 130809195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130749798 130809195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130767120 131058115 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 130782329 130826793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 130798369 130798779 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130803001 130869500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130807456 130843791 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130810134 130830400 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130810134 130830400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130838745 130874182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130838745 130874182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130855419 132584828 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 130863721 130863829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130869501 130914000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130875717 130875817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 130883211 130892537 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130883211 130892537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130896183 132618574 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 130896896 130912904 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130896896 130912904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130909150 130909251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130913050 130951046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130913050 130951046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130913064 130951044 Copy number Lung cancer - 20668451 chr9 130913064 130951044 Gain or loss Breast cancer - 20668451 chr9 130913064 130951044 Gain or loss Cancer - 20668451 chr9 130913064 130951044 Gain or loss Lung cancer - 20668451 chr9 130913064 130951044 Gain or loss Ovarian cancer - 20668451 chr9 130913064 130951044 Gain or loss Pancreas cancer - 20668451 chr9 130913064 130951044 Gain or loss Prostate cancer - 20668451 chr9 130914001 131693500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 130914058 130999413 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130932794 131181502 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 130938560 130945447 Gain Normal 244K array 17666407 chr9 130948824 130949824 Gain Osteosarcoma References 21215367 chr9 130949365 130950365 Loss Osteosarcoma References 21215367 chr9 130952801 134039400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 13095702 13240365 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 13095703 13269563 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 13095703 13269563 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 13095703 13269563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130959968 130960968 Gain Osteosarcoma References 21215367 chr9 130961204 130966535 Gain Normal 244K array 17666407 chr9 13096497 13240357 Gain and loss Pancreatic cancer SNP array 17952125 chr9 130977651 130980361 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 130977652 130980362 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 130977652 130980362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 130978871 131012670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131001466 131028093 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131003452 131776654 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-630K arrays 21546498 chr9 131022073 131023073 Gain Osteosarcoma References 21215367 chr9 131030535 131138644 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131031932 131032028 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131032672 131032817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131042781 131096053 Amplification or deletion Cancer Array CGH 17440070 chr9 131055000 131501000 Gain Cancer 500K single nucleotide polymorphism arrays 17699850 chr9 131055000 131501000 Gain Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 chr9 13105703 13250365 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13105703 13250365 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13105703 13250365 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 131064901 131069500 Deletion Glioma mate-paired sequence 20126413 chr9 131066507 131067890 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 131104890 131107244 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 131123116 131127005 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131123116 131127005 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131163020 131181460 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131163365 131164199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 131172270 131172561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131172274 131172561 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13117644 13118644 Loss Renal cell carcinoma References 21215367 chr9 131182241 131182570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131194635 131214202 Gain and loss Pancreatic cancer SNP array 17952125 chr9 13121637 13121711 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 131224028 131249370 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 131241742 131243633 Gain Normal 244K array 17666407 chr9 13124848 13125848 Gain Renal cell carcinoma References 21215367 chr9 131267639 131267738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 131273307 131317468 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 131289545 131289631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 131291741 131325878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131299154 131352148 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131300676 131448167 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 131303080 131303174 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 131318042 131324302 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 131318392 131347147 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 131327404 131344640 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 131354883 131354983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 131378648 131403070 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131378722 131378822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 131390606 131390691 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131393576 131393662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131395427 131395512 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131404350 131405091 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131407859 131428746 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131410984 131438030 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131410984 131438030 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131414327 131422870 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131414327 131422870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131428255 131437700 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 131428745 131436209 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131429517 131429617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 131436704 131444265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131436704 131444265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131447259 131447309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 13145539 13146539 Gain Cancer Human 24 color M-FISH 21215367 chr9 13145539 13146539 Gain Renal cell carcinoma References 21215367 chr9 131467741 131524770 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131467741 131524770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131481712 131642479 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131502772 131535646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 131506924 131507924 Gain Osteosarcoma References 21215367 chr9 131526566 131527566 Gain Osteosarcoma References 21215367 chr9 131532978 132607062 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 131540433 131555165 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131540433 131555165 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131540436 131555165 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 131593296 131593937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131605252 131613381 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 131605253 131613381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131605253 131613381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131615043 131626262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131615043 131626262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131629386 131637393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131629386 131637393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131630114 131630408 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131637516 131683928 Gain or loss Breast cancer - 20668451 chr9 131637516 131683928 Gain or loss Cancer - 20668451 chr9 131637516 131683928 Gain or loss Lung cancer - 20668451 chr9 131637516 131683928 Gain or loss Ovarian cancer - 20668451 chr9 131637516 131683928 Gain or loss Pancreas cancer - 20668451 chr9 131637516 131683928 Gain or loss Prostate cancer - 20668451 chr9 131637546 131683928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131637546 131683928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131641050 132590178 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 131661385 131661385 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 131685793 131686270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131687511 131687714 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131687801 131687859 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131689286 131845294 Gain or loss Breast cancer - 20668451 chr9 131689286 131845294 Gain or loss Cancer - 20668451 chr9 131689286 131845294 Gain or loss Lung cancer - 20668451 chr9 131689286 131845294 Gain or loss Ovarian cancer - 20668451 chr9 131689286 131845294 Gain or loss Pancreas cancer - 20668451 chr9 131689286 131845294 Gain or loss Prostate cancer - 20668451 chr9 131689287 131845267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131689287 131845267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131702106 131702106 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 131710196 131710281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 131765053 131984809 Gain and loss Pancreatic cancer SNP array 17952125 chr9 131855526 131942264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131855526 131942264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13186358 13186458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1318664 1318967 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131922906 131923009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131922906 131923012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131942710 131946319 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131942710 131946319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131952501 132047000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 131955319 131955618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 131974678 132038721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 131974678 132038721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 131997035 132590178 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 132040120 132071895 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 132042579 132042649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132044929 132045029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132046559 132046667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132047001 132086500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 132050318 132050373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1320599 1465882 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 132066888 132147765 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132068222 132068322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132070464 132074621 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 132070528 132074979 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 132070572 132073252 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 132086501 132365500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 132122387 132133642 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 13215407 13366653 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 13216085 13327242 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr9 132168837 132259926 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132192384 132192479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132213463 132213563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132247385 132247476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132250950 132284392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132265474 132265771 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132280489 132311775 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132287280 132332095 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 132294374 132299329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132294895 132294978 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 132295490 132299329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132309215 132309315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132309915 132366482 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132309915 132366482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132315066 132315162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132315165 132478260 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132326569 132326669 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132326571 132326631 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132338616 132338714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132347115 132458826 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 132349791 132349891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132362204 132593161 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 132365501 132526500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 132374780 132405460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 132381007 132381309 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 1323834 1323923 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1323837 1323953 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1323837 1323953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132397560 140002864 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 132430323 132610819 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 132436590 132436715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132442557 132444702 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 132444780 132503560 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 132444781 132503560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132444781 132503560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132487547 132495194 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132490800 138284700 Increase Cancer CGH 20581869 chr9 132499230 132575342 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132500000 132800000 Loss Glioblastoma multiforme aCGH 21080181 chr9 132500000 140273252 Gain Medulloblastoma SNP arrays 21979893 chr9 132508380 132508480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132517007 132517591 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132526501 132534500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 132529802 132548205 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132529802 132548205 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132534501 132550000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 132558978 132570273 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 132558988 132570073 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132558988 132570073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132574976 132594375 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132576743 132576797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132578987 132752883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132578987 132752883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132579088 132752883 Gain or loss Breast cancer - 20668451 chr9 132579088 132752883 Gain or loss Cancer - 20668451 chr9 132579088 132752883 Gain or loss Lung cancer - 20668451 chr9 132579088 132752883 Gain or loss Ovarian cancer - 20668451 chr9 132579088 132752883 Gain or loss Pancreas cancer - 20668451 chr9 132579088 132752883 Gain or loss Prostate cancer - 20668451 chr9 132579089 132752883 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 132582713 140194638 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr9 132589994 132590258 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132594866 132698182 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 132601876 133721340 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 132617711 132633050 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 132630521 132783752 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132647168 132698755 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 132648957 132649037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132706385 133632076 LOH Normal High-resolution SNP genotyping 21211785 chr9 132722573 132737555 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 132749001 132760500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 132758635 132759046 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 132758636 132759046 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 132758636 132759046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132758636 132759046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132758759 132758823 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132760501 132807000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 132767646 132804276 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 132767648 132804058 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 132767648 132804058 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132767648 132804058 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132783304 132794975 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132796291 132849562 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132800000 134900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 132800000 134900000 Copy number Normal - 21701786 chr9 132800000 134900000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 132800000 136600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 132800000 140273252 Gain Glioblastoma multiforme aCGH 21080181 chr9 1 32800000 Copy number Breast cancer BAC array 16272173 chr9 1 32800000 Deletion Medulloblastoma SNP arrays 21979893 chr9 1 32800000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr9 1 32800000 Loss Glioblastoma multiforme conventional CGH 21080181 chr9 132807001 132983000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 132834148 132862598 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 132835735 132863394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 132850486 132896625 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132864328 132864428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132868672 132868734 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132874324 132958267 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 132874325 132958267 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 132874325 132958267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132874325 132958267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132892192 132892232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 132924386 132926107 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132935654 132963442 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132949234 132973818 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 132957767 132970443 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 132961732 132988360 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 132961733 132991202 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 132961733 132991202 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132961733 132991202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132966919 132976705 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132972692 133015692 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr9 132972721 132986250 Loss or gain Normal 244K array 17666407 chr9 132977545 132997589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 132985174 134219212 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 132986250 132986840 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132987493 132989501 Gain and loss Pancreatic cancer SNP array 17952125 chr9 132990801 133098912 Copy number Lung cancer - 20668451 chr9 132990801 133098912 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 132990801 133098912 Gain or loss Breast cancer - 20668451 chr9 132990801 133098912 Gain or loss Cancer - 20668451 chr9 132990801 133098912 Gain or loss Lung cancer - 20668451 chr9 132990801 133098912 Gain or loss Ovarian cancer - 20668451 chr9 132990801 133098912 Gain or loss Pancreas cancer - 20668451 chr9 132990801 133098912 Gain or loss Prostate cancer - 20668451 chr9 132990802 133098909 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 132990802 133098909 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 132990802 133098909 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132991548 133094624 Copy number Lung cancer paired-end sequencing 18438408 chr9 132992199 132992295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 132997993 132998090 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133002664 133026115 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133057894 133068855 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133094385 133125784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133099403 133099761 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 133105895 133106932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133107127 133390056 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 133109918 133271478 Copy number Lung cancer paired-end sequencing 18438408 chr9 133110221 133114184 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133116001 133183500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 133123287 133141727 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 133123287 133141727 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 133123287 133141727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133127179 133128191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 13312805 13313654 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133130091 133132992 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133154901 133174470 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 133154902 133174469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 133154902 133174469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133160543 133180159 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133162427 134617798 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr9 133183501 133216500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 1 33200000 Amplification Hepatocellular carcinoma Array CGH 16750200 chr9 1 33200000 Copy number Endometrioid adenocarcinoma CGH 16974079 chr9 1 33200000 Loss Breast cancer Microarray-based CGH 17133270 chr9 133203181 133225605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133204731 133217637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133206755 133217245 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133207507 133207597 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133207507 133207598 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133208918 133218251 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133210675 133214276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133210996 133226433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133211403 133222337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133211915 133213049 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133211927 133214376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133227107 133232598 Gain and loss Pancreatic cancer SNP array 17952125 chr9 13322922 13323454 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13322922 13323454 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13322922 13323454 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 133231074 133247834 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133233857 133233957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133234120 133234215 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133234121 133234215 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133234714 133244526 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133245805 133245879 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133246503 133246573 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133246504 133246576 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133246865 133246936 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133246865 133246937 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133247255 133247322 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133248220 133252915 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133248413 133258366 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 133248413 133258366 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 133250747 133255525 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 133252982 133257586 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133257895 133272524 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133259301 133365405 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133272838 133300773 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133275656 133275756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133286878 133331398 Copy number Lung cancer paired-end sequencing 18438408 chr9 133300742 133312718 Gain and loss Pancreatic cancer SNP array 17952125 chr9 13330724 16175090 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr9 133316674 133354061 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133338501 133389000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 133345504 133494831 Copy number Lung cancer paired-end sequencing 18438408 chr9 133349456 133349542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133350873 133350958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133354643 133365524 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133355694 133355779 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133356411 133837324 Gain small cell lung cancer Real-time Quantitative PCR 17426248 chr9 133364329 133364373 Gain Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr9 133364617 133365358 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133365771 133373772 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133368110 133389014 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 133368110 133389014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133372708 133372808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133389001 133398500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 133389009 133396476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 133389009 133396476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133398501 133440500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 133409312 133419520 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133426840 133470194 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133440501 133460500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 133441977 133605053 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 133441977 133605053 Gain or loss Breast cancer - 20668451 chr9 133441977 133605053 Gain or loss Cancer - 20668451 chr9 133441977 133605053 Gain or loss Lung cancer - 20668451 chr9 133441977 133605053 Gain or loss Ovarian cancer - 20668451 chr9 133441977 133605053 Gain or loss Pancreas cancer - 20668451 chr9 133441977 133605053 Gain or loss Prostate cancer - 20668451 chr9 133441978 133605282 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 133441978 133605282 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133457110 133909272 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133460501 133627500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 133461155 133485243 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 133461155 133485243 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 133473698 133474899 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133484679 133489269 Loss or gain Normal 244K array 17666407 chr9 133491264 133491353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133508901 133596996 Copy number Lung cancer paired-end sequencing 18438408 chr9 133531039 133554020 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133558240 133634600 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133589267 133763060 Copy number Cancer Affymetrix SNP array 6.0 22259228 chr9 133589267 133763060 Copy number Chronic myeloid leukemia Real-time quantitative reverse transcription PCR assay 18641042 chr9 133590381 133590675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133611958 133726986 Copy number Lung cancer paired-end sequencing 18438408 chr9 133627501 133742000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 133647778 133648021 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133648068 133648204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133656571 133886959 Gain and loss Pancreatic cancer SNP array 17952125 chr9 13366653 13454222 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 1336810 1338914 Copy number Autism exome sequencing 22495311 chr9 133709069 133709134 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 133721340 134540460 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 133725315 133945074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 133725315 133945074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 133741021 133957408 Copy number Lung cancer paired-end sequencing 18438408 chr9 133753695 133756980 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 133826364 133826464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133850000 138810000 Loss Breast cancer aCGH 21509527 chr9 133886798 133886898 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133906227 133906278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133927534 133963187 Gain and loss Pancreatic cancer SNP array 17952125 chr9 133972721 134441791 Copy number Lung cancer paired-end sequencing 18438408 chr9 133973081 133973141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 133997029 134014833 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 134000000 137000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chr9 134007733 134036685 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 134021001 134125500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134027154 134108041 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 134027155 134109742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134027155 134109742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134030764 134053359 Gain and loss Pancreatic cancer SNP array 17952125 chr9 134063698 134094880 Loss Normal - 20841430 chr9 13406379 13431400 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13406379 13431400 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13406379 13431400 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 134079959 134080083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1340941 1345657 Copy number Autism exome sequencing 22495311 chr9 134096042 134096142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134126647 134220193 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 134126647 134220193 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 134126648 134220193 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134126648 134220193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134133914 134133998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134219001 134220500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134231966 134232035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134240756 134272042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134240756 134272042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134240757 134272042 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 134244223 134244494 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr9 13425742 13425842 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134264877 134264970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134275001 134276500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134275251 134438527 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134275251 134438527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134286819 134286894 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 134335001 134452000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134350238 134394898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 134379112 134379321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 134379113 134379321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 134390201 134396500 Deletion Glioma mate-paired sequence 20126413 chr9 13440166 13440266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134447813 134455461 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 134447814 134455461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134447814 134455461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134452001 134454500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134455896 134816956 Copy number Lung cancer paired-end sequencing 18438408 chr9 134458205 134535609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134458205 134535609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134459496 134535609 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 134500001 137500000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chr9 134503070 134535609 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 134515695 134515788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134519422 134554805 Gain and loss Pancreatic cancer SNP array 17952125 chr9 134535548 134555291 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 134535548 134555291 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 134535549 134555292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134535549 134555292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13454222 13508433 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 134555438 134557882 Gain and loss Pancreatic cancer SNP array 17952125 chr9 134571177 134571277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134581786 134582055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 134586501 134755000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134590785 134744019 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 134590788 134744019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134590788 134744019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134596001 135253800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134612965 135042885 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr9 134638829 134638929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134644955 134645039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134679195 134679286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134719026 134719090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134733914 134734014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134743571 134755239 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134743571 134755239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134744110 134755239 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 134744956 134788055 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 134746189 134747659 Amplification or deletion Cancer Array CGH 17440070 chr9 134748908 134749951 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 134756556 134809841 Copy number Lung cancer - 20668451 chr9 134756556 134809841 Gain or loss Breast cancer - 20668451 chr9 134756556 134809841 Gain or loss Cancer - 20668451 chr9 134756556 134809841 Gain or loss Lung cancer - 20668451 chr9 134756556 134809841 Gain or loss Ovarian cancer - 20668451 chr9 134756556 134809841 Gain or loss Pancreas cancer - 20668451 chr9 134756556 134809841 Gain or loss Prostate cancer - 20668451 chr9 134756557 134809841 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134756557 134809841 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134759597 134960684 Gain and loss Pancreatic cancer SNP array 17952125 chr9 134775040 134775138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134775272 134786590 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 134785501 134834219 Deletion Ependymoma Affymetrix U133 Plusv2 20639864 chr9 134797174 134802822 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 134810753 134856895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134810753 134856895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134818256 134818338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134827760 134827867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134831831 136346438 Copy number Lung cancer paired-end sequencing 18438408 chr9 134843918 134856904 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 134844062 134844162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134848001 134870500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134870501 134916500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134884613 134886396 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 134884659 134886082 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134884755 134884842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134887283 134931542 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 134888454 134923709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134888454 134923709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134900000 136600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 134900000 136600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 134900000 140273252 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 134900000 140273252 Gain Hepatocellular carcinoma CGH 22174799 chr9 134905288 134905388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 134916501 134937000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134923675 134947428 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 134923675 134947428 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 134926833 134933034 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 134927185 134937069 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 134927201 134936972 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134927201 134936972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134933035 134939411 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 134939411 134946443 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 134946443 134947261 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 134947501 134954000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134947746 134952297 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 134947760 134950256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134954001 134965500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134958260 134958357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134962927 135014409 Copy number Lung cancer - 20668451 chr9 134962927 135014409 Gain or loss Breast cancer - 20668451 chr9 134962927 135014409 Gain or loss Cancer - 20668451 chr9 134962927 135014409 Gain or loss Lung cancer - 20668451 chr9 134962927 135014409 Gain or loss Ovarian cancer - 20668451 chr9 134962927 135014409 Gain or loss Pancreas cancer - 20668451 chr9 134962927 135014409 Gain or loss Prostate cancer - 20668451 chr9 134962928 135014542 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 134962928 135014542 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 134965501 134976500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134976501 134983000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134983001 135019500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 134998603 135005311 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135018161 135029127 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135018161 135029127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135019501 135069500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135027385 135035754 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135050537 135050853 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135069501 135075000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135070488 135074451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135075001 135090500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135087867 135087957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135090119 135093850 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135090119 135093850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135090501 135094500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135094501 135287500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135108850 135108950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135113605 138284700 Increase Cancer CGH 20581869 chr9 135119224 135147500 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 135120384 135140451 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135120384 135140451 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13512666 13513666 Loss Renal cell carcinoma References 21215367 chr9 135144126 135144254 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135164517 135172606 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 135167774 135167867 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135171865 135172980 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 135172230 135173054 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 135174413 135175125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135187390 135192868 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135187390 135192868 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135189457 138807183 Loss Bladder cancer array-CGH 21909424 chr9 135191259 139424835 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr9 135193116 135238968 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135194386 135194482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135195648 135196116 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135197577 135204793 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135197577 135204793 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135204890 135208102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135204890 135208102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135206072 135206146 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135206666 135232791 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135206666 135232791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135206771 135206843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135206966 135226594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 135207132 135207204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135207522 135207589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135208487 135213182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135208487 135213182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135213249 135217853 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135213249 135217853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135233105 135261041 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135233105 135261041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135261006 135272985 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 135261009 135272985 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135261009 135272985 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135276941 135314329 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135276941 135314329 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135287501 135383000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135299400 135305097 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135314952 135325706 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135314952 135325706 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135326038 135334080 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135326038 135334080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135369032 135369373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135369579 135379787 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135369579 135379787 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135376534 135377220 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135383001 135396000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135387107 135430462 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135387107 135430462 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135396001 135464000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135403047 135449124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 135403923 135404246 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135406844 135406929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 13542680 13542780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135433965 135435166 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135433965 135435166 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135445620 135445652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135447782 135447846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135456561 135477151 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 135461040 135464347 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135464001 135484000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135484001 135600250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135490030 135490104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135491306 135514287 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135491306 135514287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135506321 135506409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135518507 135594863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135518507 135594863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135537556 135537747 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135537590 135537845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135560413 135560656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135600251 135622500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135600470 135606684 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135612973 135619525 Gain and loss Pancreatic cancer SNP array 17952125 chr9 13561328 13565950 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135614992 135616239 Deletion Non-syndromic sensorineural hearing loss Targeted BAC 19587683 chr9 135615015 135616083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135616498 135616547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135616836 135847226 Gain or loss Breast cancer - 20668451 chr9 135616836 135847226 Gain or loss Cancer - 20668451 chr9 135616836 135847226 Gain or loss Lung cancer - 20668451 chr9 135616836 135847226 Gain or loss Ovarian cancer - 20668451 chr9 135616836 135847226 Gain or loss Pancreas cancer - 20668451 chr9 135616836 135847226 Gain or loss Prostate cancer - 20668451 chr9 135616837 135847547 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135616837 135847547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135618486 135622461 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135622501 135860500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135639231 135644323 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135646924 135646999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135663930 135667747 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135676060 135676160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135679549 135684567 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135680601 135684500 Deletion Glioma mate-paired sequence 20126413 chr9 135682108 135683355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135683295 135716765 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 135683297 135683297 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 135696163 135696244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135714835 135737675 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 135718969 135719049 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135741447 135757331 Amplification T-cell lymphomas Array-CGH 22341440 chr9 135750861 135751088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135762121 135791718 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 135781113 135783542 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135781113 135783894 Amplification T-cell lymphomas Array-CGH 22341440 chr9 135807780 135808016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 135811198 135817393 Amplification T-cell lymphomas Array-CGH 22341440 chr9 135811206 135817327 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135819976 135910937 Amplification T-cell lymphomas Array-CGH 22341440 chr9 135819976 135910937 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135860501 135894500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135887784 135923478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135887784 135923478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135894501 135907500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135907501 135919000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135919001 135925500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135925146 135934286 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 135925501 135980500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135927372 136000694 Amplification T-cell lymphomas Array-CGH 22341440 chr9 135927373 136024929 Gain and loss Pancreatic cancer SNP array 17952125 chr9 135940429 135940521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135980501 135992000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135990474 135990574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 135991031 136014914 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 135991031 136014914 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 135992001 136007500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 135994734 136014915 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 136007501 136346500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136019382 136019507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 136030567 136030616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136047682 136047748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136050760 136079130 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136050761 136079171 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136079237 136079323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136109098 136143724 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136129150 136213076 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136129154 136213076 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136198806 137940702 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr9 136201143 140273252 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 136207921 138274031 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 136227983 136258640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136265801 137480200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136279410 136294008 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136299866 138527587 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 13630760 13631060 Gain Chordoma References 21215367 chr9 136314043 136322900 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136314043 136322900 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136324124 136344665 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136326519 136344666 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136327362 136327496 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 136346501 136480500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136358137 136472250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 136358137 136472250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 136360701 136487716 Copy number Lung cancer paired-end sequencing 18438408 chr9 1363894 1363994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136433411 136433495 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136448929 136458831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13645412 13645743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 136461533 136461633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136476018 136476291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 136480501 136486000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136486001 136507000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136492417 136492507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136494926 136495510 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136497769 136529888 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136501683 136501683 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 136503317 137019516 Loss Breast cancer 244K CGH oligonucleotide microarrays 20932292 chr9 136504210 136509727 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr9 136504254 137689458 Copy number Lung cancer paired-end sequencing 18438408 chr9 136504742 136528509 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136507001 136603500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136512964 136557950 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136523000 136523814 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 136526666 137102322 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 136532193 136543948 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136534246 136543945 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136545866 136569088 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136545867 136569088 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136561649 136561736 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136572214 136580758 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136572214 136580758 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136580949 136594049 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136580953 136594050 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136584504 136619165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136598912 136610093 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136598912 136610093 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136600000 140273252 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 136600000 140273252 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr9 136600000 140273252 Copy number Idiopathic chronic pancreatitis Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr9 136600000 140273252 Copy number Normal - 21701786 chr9 136600000 140273252 Deletion 9q deletion syndrome FISH 16826528 chr9 136600000 140273252 Deletion Schizophrenia high-density microarrays 22241247 chr9 136600000 140273252 Gain Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr9 136600000 140273252 Loss Glioblastoma multiforme aCGH 21080181 chr9 136600000 140273252 Loss Non-small cell lung cancer dChip 21829676 chr9 136600000 140273252 Microdeletion Non-syndromic sensorineural hearing loss Array-CGH 19293338 chr9 136600000 140273252 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr9 136603501 136607500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136610386 136646785 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136610390 136646252 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136611432 136611516 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 136617001 136630500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136630501 136649000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136631282 136631382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136632106 136632138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136644222 136644322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136649001 136690500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136653784 136656355 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136664445 136664545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136664734 136716075 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136672574 136672634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136673472 136876509 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 136673473 136876510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 136673473 136876510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 136678172 136707759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136681052 136684510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 136690501 136709500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136703284 136703384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136708153 136740605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136709501 136883000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136714731 136714831 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136744238 137102322 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 136750257 136750357 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136781648 136781701 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136796265 136796365 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136809008 136809108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136819011 136830710 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136824508 136824577 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 136826792 136826792 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 136829145 136842966 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136830237 136830320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 136833214 136842967 Deletion T-cell lymphomas Array-CGH 22341440 chr9 136836853 136844379 Gain Normal 244K array 17666407 chr9 136840891 136840975 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136843432 136857712 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136843433 136857712 Deletion T-cell lymphomas Array-CGH 22341440 chr9 136853427 136853527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136882867 136894324 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136883001 137133500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 136894756 136910600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136894827 136908492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136894965 136906660 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136895523 136898473 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136896393 136896528 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136899063 136913192 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136899686 136900142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 136904865 136922463 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 136908465 136918817 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136912475 136919745 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 136912475 136919745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 136912478 136919187 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 136914309 136918817 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136923858 136923939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 136924675 136928219 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136924677 136928577 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136929925 136934777 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136940837 136949630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 136940837 136949630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 136952800 136971351 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 136955403 136955462 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 136961644 136963545 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136961644 136963546 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136969548 137128022 Gain and loss Pancreatic cancer SNP array 17952125 chr9 136969704 136978029 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136978211 137011476 Amplification T-cell lymphomas Array-CGH 22341440 chr9 136983816 136985813 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137010905 137010988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 137014482 137017634 Amplification T-cell lymphomas Array-CGH 22341440 chr9 137016690 137017568 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137019383 137021327 Amplification T-cell lymphomas Array-CGH 22341440 chr9 137019383 137021327 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137022656 137031086 Amplification T-cell lymphomas Array-CGH 22341440 chr9 137022656 137031086 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137032408 137036575 Amplification T-cell lymphomas Array-CGH 22341440 chr9 137032408 137036575 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137056785 137096903 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137106909 137152851 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 137106910 137152851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137106910 137152851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137106923 137129773 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 137109482 137109582 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137110725 137115010 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137115550 137117256 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137122605 137125783 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137133501 137318500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137141150 137180912 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137145383 137152030 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137152193 137156047 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137162707 137164264 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137164897 137166861 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137176694 137176794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137177523 137199211 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137197753 137207071 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137200463 137202402 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137209762 137216492 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137213276 137218973 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137218390 137224342 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137226766 137226841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137232613 137240865 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137241214 137241278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137248430 137254828 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137256644 137256958 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137257237 137279470 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137264634 137264719 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137279594 137279674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137280831 137285007 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137283714 137666667 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-633K arrays 21546498 chr9 137287818 137434137 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 137287818 137434137 Copy number gain Normal High-resolution SNP genotyping 21211785 chr9 137291493 137446171 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 13729579 16325490 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 137300000 137400000 Duplication Neuroendocrine carcinoma TaqMan real-time quantitative PCR and commercially available reagents (Applied Biosystems, Foster City, CA, USA) 21139019 chr9 137308679 137339044 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137312077 137312135 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 137318501 137331500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137321301 137339276 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 137321301 137356221 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 137331501 137334500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137333956 137336075 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 137334028 137335907 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 137334028 137335907 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 137334501 137372500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137335024 137335350 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 137339278 137340163 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137341270 137342316 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137345073 137358894 Gain and loss Pancreatic cancer SNP array 17952125 chr9 13734730 13735730 Gain Renal cell carcinoma References 21215367 chr9 137347763 137347822 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 137353885 137357424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 137353901 137357580 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 137353920 137357439 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 137353926 137356233 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 137353926 137356233 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 137358936 137360659 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137361906 137370394 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137372501 137376000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137374597 137374968 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137374916 137378223 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137374916 137378223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137375293 137375703 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137375984 137387275 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137376001 137445500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137381419 137381518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137388349 137389650 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137390716 137391258 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137394924 137396594 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137396062 137396110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137400000 141213431 Gain and amplification Multiple myeloma Array CGH 16616336 chr9 137400000 141213431 Loss Mantle cell lymphoma Array CGH 19029149 chr9 137401207 137406843 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137411576 137413998 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137413873 137418059 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137421567 137423752 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137425596 137443835 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137445501 137530500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137446983 137447075 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 137448115 137452929 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137471873 137472217 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137473621 137617588 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 137477185 137593453 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137479113 137481821 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137486626 137504482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137488593 137509883 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137488650 137517729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137490239 137501509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137491877 137507790 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137492908 138013040 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137493927 137504808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137494088 137505710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137497009 137510415 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137506626 137516622 Loss Normal 244K array 17666407 chr9 137510746 137520560 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137510746 137520560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137511468 137520560 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 137511796 137511893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137518170 137522395 Gain Normal 244K array 17666407 chr9 137526848 137533401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137526848 137533401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137530501 137538500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137531651 137536340 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137531651 137536340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137538501 137545000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137545001 137547500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137547501 137553000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137549487 137549572 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137553001 137559500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137553105 137558199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137553105 137558199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137559501 137576500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137560278 137560367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137565610 137582577 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr9 137576501 137584500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137577806 137581636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137577806 137581636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137582959 137614955 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137584501 137617500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137590561 139935299 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr9 137593424 137598443 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 137593425 137598622 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137593425 137598622 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137593684 137604694 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137604654 137612105 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137610423 137666414 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr9 137616644 137620307 Copy number Alcoholism Illumina Human Hap667W-Quad BeadChip 21790672 chr9 137616644 137620307 Copy number Normal - 21790672 chr9 137617001 137621800 Deletion Glioma mate-paired sequence 20126413 chr9 137617501 137624500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137618521 137629623 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137618922 137620020 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 137619669 137623642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137630242 137720673 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137634470 137634530 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137634501 137651750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137642249 137642321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137643800 137643857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 137655323 137671207 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137655323 137671207 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137661884 137661984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137664096 137664169 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137665697 137675412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137671083 137705495 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137687001 137713500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137694989 137697580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137694989 137697580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137698058 137698124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137703896 137818434 Copy number Lung cancer paired-end sequencing 18438408 chr9 137713501 137757000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137722171 137722843 Gain and loss Pancreatic cancer SNP array 17952125 chr9 13772276 13773276 Loss Chordoma References 21215367 chr9 137725078 137731199 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137725078 137731199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137725198 137749224 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137733859 137826386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137733859 137826386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137752368 137760779 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137757001 137766500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137766501 137826500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137775943 137785646 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137785642 137785642 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 137785867 137786488 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137790628 137790721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137807802 137834125 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr9 137821699 137821783 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137825056 137825098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137826501 137837500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137832644 137997476 Copy number Lung cancer paired-end sequencing 18438408 chr9 137837501 137951000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137840154 137938895 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137840154 137938895 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137859478 140273252 Amplification Cancer Affymetrix 250K Sty array 20164920 chr9 137864051 137892172 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137881253 138006413 Gain and loss Pancreatic cancer SNP array 17952125 chr9 137883274 137916383 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137884362 137905111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137884671 137901259 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137885070 137886853 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137885085 137886816 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137925516 137925616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 137948336 137988441 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 chr9 137951001 137958000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137956595 138000890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 137958001 137962500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137962501 137998000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 137964637 137993047 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 137964637 137993047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 137998001 138000500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 1 38000000 Gain Medulloblastoma SNP arrays 21979893 chr9 1 38000000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr9 1 38000000 Loss Cervical cancer array CGH 21063398 chr9 138000501 138054500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138012456 139476436 Copy number Lung cancer paired-end sequencing 18438408 chr9 138012977 138039456 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 138028075 138028114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138038204 138126952 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138038204 138126952 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138048223 138292468 Gain and loss Pancreatic cancer SNP array 17952125 chr9 138054501 138074000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138074001 138093500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138085144 138085244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138093501 138111000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138099912 138102958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 138111001 138237500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138146647 138146746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138161400 138429268 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 138161768 138161854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138192601 138200800 Deletion Glioma mate-paired sequence 20126413 chr9 13820851 16208659 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 138227919 138236776 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138227919 138236776 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138237501 138280500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138238003 138277508 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138238006 138277508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138238006 138277508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138247327 138269725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 138274446 138274507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138274695 138429268 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 138280501 138300000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138285122 138395102 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr9 138295346 138308999 Loss Normal 244K array 17666407 chr9 138305501 138398000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 13830779 13831082 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 138341753 138373878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138341753 138373878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138349711 138397921 Gain Normal 244K array 17666407 chr9 138354749 138354844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138366322 138366408 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 138366355 138366586 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 138369310 138369812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 138376173 138378062 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138376173 138378062 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138378229 138387954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138378229 138387954 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138378229 138387954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138389851 138413072 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138389851 138413072 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138398001 138498000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138416194 138424875 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138416196 138424882 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138416196 138424882 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138417572 138417713 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 138424931 138438033 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138424931 138438033 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138424936 138438034 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138442896 138454077 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138442896 138454077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138454370 138491962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138454370 138491962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138454793 138454857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138497767 138500340 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138497768 138500339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138497768 138500339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138498001 138645000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 1 38500000 Loss Normal Human genome CGH 51k ARRAY PLATFORM 22144094 chr9 138503551 138503614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138508716 138560059 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138508716 138560059 Gain or loss Breast cancer - 20668451 chr9 138508716 138560059 Gain or loss Cancer - 20668451 chr9 138508716 138560059 Gain or loss Lung cancer - 20668451 chr9 138508716 138560059 Gain or loss Ovarian cancer - 20668451 chr9 138508716 138560059 Gain or loss Pancreas cancer - 20668451 chr9 138508716 138560059 Gain or loss Prostate cancer - 20668451 chr9 138508717 138560135 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138508717 138560135 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138509089 138509514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138511791 138511846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138527587 140022134 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 138527753 138606602 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 13854077 138442893 Copy number Autism exome sequencing 22495311 chr9 138547346 138547608 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 13856958 13857058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138597784 138597879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138630582 138631119 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138645001 138658000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138650215 139260918 LOH Normal High-resolution SNP genotyping 21211785 chr9 138658001 138661500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138661501 138669000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138669001 138711000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138673128 138686951 Gain or loss Breast cancer - 20668451 chr9 138673128 138686951 Gain or loss Cancer - 20668451 chr9 138673128 138686951 Gain or loss Lung cancer - 20668451 chr9 138673128 138686951 Gain or loss Ovarian cancer - 20668451 chr9 138673128 138686951 Gain or loss Pancreas cancer - 20668451 chr9 138673128 138686951 Gain or loss Prostate cancer - 20668451 chr9 138673129 138686951 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138673129 138686951 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138679235 138679315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138684875 138684959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138687416 138701732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138687416 138701732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138689397 138729707 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 138708409 138708535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138711001 138726000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138726001 138779500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138726844 138738990 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138726851 138738323 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138726851 138738323 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138739506 138742457 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138740377 138740512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138741021 138741152 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138752449 138757232 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138752449 138757232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138753347 138762844 Loss Autism qPCR 20531469 chr9 138758293 138762801 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138758293 138762801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138768661 138772816 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138768661 138772816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138773907 138778786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138773907 138778786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138779501 138805000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138794212 138794485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138805001 138822000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138805594 138807589 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138805594 138807589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138810623 138822013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138810623 138822013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138817034 138817507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 138822001 138823000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138822195 138855460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138822195 138855460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138827058 138829812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138830013 138830062 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138835501 138839000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138839001 138877500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138862997 138865308 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138862997 138865308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138866640 138875070 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138866640 138875070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138876392 138880559 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138876392 138880559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138877501 138952000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138892211 138892487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138896205 138940888 Gain or loss Breast cancer - 20668451 chr9 138896205 138940888 Gain or loss Cancer - 20668451 chr9 138896205 138940888 Gain or loss Lung cancer - 20668451 chr9 138896205 138940888 Gain or loss Ovarian cancer - 20668451 chr9 138896205 138940888 Gain or loss Pancreas cancer - 20668451 chr9 138896205 138940888 Gain or loss Prostate cancer - 20668451 chr9 138900785 138940888 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138900786 138940887 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138900786 138940887 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138901654 138901687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138950113 138951434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138952001 138999000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 138954709 138958994 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138954709 138958994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138959518 138961247 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138959534 138961240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138959534 138961240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138966588 138969770 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 138966589 138969767 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138966589 138969767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138983516 138986263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138983516 138986263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138985590 138985665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 138989366 138996015 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 138991777 138996014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138997266 139000034 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 138997266 139000034 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 138999001 139007000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139006691 139008248 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139006691 139008248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139007001 139012000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139008880 139010845 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 139008881 139010845 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139008881 139010845 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139012001 139026500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139020905 139020998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139021507 139043195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139021507 139043195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139026501 139070500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139041737 139051055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139041737 139051055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139044446 139047113 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139044447 139047283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139044447 139047283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139051881 139060476 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 139053746 139060476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139053746 139060476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139062374 139068326 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139062374 139068326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139070501 139077000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139076399 139084849 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139076402 139084861 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139076402 139084861 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139077001 139084000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139084001 139092000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139091774 139098812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139091774 139098812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139092001 139102000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139097172 139100238 Indels Normal Affymetrix and Illumina arrays 20811451 chr9 139099218 139101090 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139101200 139123460 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139101200 139123460 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139101237 139123460 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139102001 139119500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139107171 139126312 Indels Normal Affymetrix and Illumina arrays 20811451 chr9 139108618 139108703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139117233 139117732 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr9 139119501 139132000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139124814 139129016 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139124814 139129016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139132001 139150500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139150501 139158000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139152663 139183028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139152663 139183028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139153429 139183029 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139158001 139164500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139164501 139170500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139170501 139216000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139176921 139176992 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13917970 13935586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 13917970 13935609 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 139183035 139184312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139183035 139184312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139185201 139186300 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139185201 139186300 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139189057 139202878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139189057 139202878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139202874 139204643 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139202954 139204636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139202954 139204636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139205890 139215578 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139205890 139215578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139216001 139226000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139219148 139219910 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139219148 139219910 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139220004 139231281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139226001 139271000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139231067 139231155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139234528 139235854 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139234528 139235854 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139238388 139242086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139238908 139240584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139239464 139240583 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139245205 139250827 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139245206 139250827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139245206 139250827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139250000 140720000 Gain Breast cancer aCGH 21509527 chr9 1392540 1395099 Copy number Autism exome sequencing 22495311 chr9 139255531 139257980 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139255532 139257980 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139255532 139257980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139256944 139257048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139257858 139262043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139257858 139262043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139265534 139267736 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139265534 139267736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139269580 139287819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139269580 139287819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139271001 139315500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139292099 139296913 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139292099 139296913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139302129 140273252 LOH Normal High-resolution SNP genotyping 21211785 chr9 139313903 139316524 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139315501 139338500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139315857 139316201 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139315857 139316201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139321168 139437535 Deletion,amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139321169 139437535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139321169 139437535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139338501 139362000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139345212 139345297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139347964 139375642 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 139354015 139375642 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 139362001 139376000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139374189 139374289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139375451 139410655 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 139376001 139380500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139380501 139388000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139388001 139401500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139392812 139410852 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 139392812 139418836 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 139392812 139423833 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 139401403 139401482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139401501 139403500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139403501 139442000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139406076 139437435 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139437667 139448679 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139437668 139448678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139437668 139448678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139442001 139454500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139448637 139455722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139448637 139455722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139454501 139467000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139461843 139473592 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139461843 139473592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139467001 139482500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139474225 139564807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139482501 139626000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139484883 139484983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139491136 140273252 Copy number Lung cancer paired-end sequencing 18438408 chr9 139496489 139830424 Deletion Developmental delay - 20877625 chr9 139496489 139830424 Deletion Hypoplastic - 20877625 chr9 139496489 139830424 Deletion Mental retardation FISH Pos 20877625 chr9 139496489 139830424 Deletion Microcephaly - 20877625 chr9 139496489 139830424 Deletion Palpebral fissures - 20877625 chr9 139499544 139499695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 139504201 140273252 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 13952108 13952208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139523184 140273252 Deletion Normal - 21701786 chr9 139536532 139536647 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 13955243 13955343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139566165 139566827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139566165 139566827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139567369 139567469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139569181 139593208 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139569182 139593208 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139569182 139593208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139571386 139571445 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139593550 139632376 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 139593916 139594016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139596351 139604758 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139596351 139604758 Deletion 9q deletion syndrome FISH 16826528 chr9 139596352 139604763 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139596352 139604763 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139619916 139629633 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139619916 139629633 Deletion 9q deletion syndrome FISH 16826528 chr9 139619917 139629630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139619917 139629630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139626001 139630000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139629605 139633129 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139629606 139633086 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139629606 139633086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139629609 139633070 Deletion 9q deletion syndrome FISH 16826528 chr9 139630001 139633000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139633001 139788500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139633264 139850397 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 139633264 139850399 Deletion 9q deletion syndrome FISH 16826528 chr9 139633668 139799808 Loss Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr9 139635696 139732818 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 139655259 139655820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139711440 139850397 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139711440 139850397 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139730718 139730818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139744619 139770293 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 13976174 13977908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139788501 139907500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139790812 139803508 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139790812 139803508 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139798346 139802679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139800210 140131086 Loss Autism Exome sequencing and CGH 22495309 chr9 139831101 139835300 Deletion Glioma mate-paired sequence 20126413 chr9 139832824 139833888 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 139852692 139852789 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139853427 139853506 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 13986174 13987913 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13986174 13987913 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 13986174 13987913 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 139882198 139906843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139890011 139890070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139892061 140136452 Deletion 9q deletion syndrome FISH 16826528 chr9 139892062 140138897 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 139892062 140138897 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 139892490 139893325 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 139893432 139897015 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 13989407 13989491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139899539 139905472 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 139899539 139905472 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 139901016 139901078 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 139903204 139905101 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 139907501 139966000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139966001 139971500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139971501 139984000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139972277 139972329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139984001 139992500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 139984940 139985003 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 139992501 140021500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 140008996 140009028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140021501 140037500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 140037501 140115000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 140091136 140124935 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 140115001 140162500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 140115580 140115634 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140122663 140122752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140126852 140126897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140145139 140152969 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 140145139 140152969 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 140145149 140211203 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 140151368 140158137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 140162501 140273252 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 140168989 140169089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140184460 140191761 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 140189246 140191570 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 140189246 140191570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 140190655 140190759 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 140191761 140195375 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 140195375 140211215 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 1 40200000 Copy number Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 chr9 1 40200000 Gain Splenic marginal zone lymphoma 44k aCGH 18492102 chr9 1 40200000 Insertion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 140226457 140253993 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 140249980 140250262 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 140249980 140250262 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 140269866 140269969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14030720 14031860 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 140350305 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140354337 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140374899 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14040455 14040555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14040656 14041886 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14040656 14041886 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14040656 14041886 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 140415087 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14050724 14051724 Loss Renal cell carcinoma References 21215367 chr9 140509194 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140548838 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14058931 14059411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14068931 14069365 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14068931 14069365 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14068931 14069365 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14071846 14303945 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 14071847 14388630 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 14071847 14388630 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 14071847 14388630 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 140761035 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14077607 14304045 Gain and loss Pancreatic cancer SNP array 17952125 chr9 140780260 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14081847 14313945 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14081847 14313945 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14081847 14313945 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 140846986 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140910145 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140918794 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 140948697 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14100000 16600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 14100000 18500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 14100000 18500000 Deletion Normal - 21541734 chr9 14100000 19900000 Copy number Glycine encephalopathy Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr9 14100000 19900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr9 14100000 32800000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr9 14100000 32800000 Loss Glioblastoma multiforme conventional CGH 21080181 chr9 141002438 140273252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14105511 14119298 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 14107346 14107440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14194247 14194570 Gain and loss Pancreatic cancer SNP array 17952125 chr9 14194247 14195038 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14200000 130300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 14200000 28000000 Loss Malignant peripheral nerve sheath tumor Array CGH 18522746 chr9 14200000 33200000 Deletion Non-small cell lung cancer FISH 19010865 chr9 14200000 33200000 Loss Myoepithelioma Array CGH 18604193 chr9 14204217 14205093 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14204217 14205093 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14204217 14205093 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14205129 14205451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 14221818 14222818 Loss Cancer Human 24 color M-FISH 21215367 chr9 14221818 14222818 Loss Renal cell carcinoma References 21215367 chr9 1 42400000 Deletion Biliary cancer Array CGH 19435499 chr9 1 42400000 Gain Glioblastoma multiforme conventional CGH 21080181 chr9 14264950 14481347 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 14282462 14282562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14293226 14294226 Loss Cancer Human 24 color M-FISH 21215367 chr9 14293226 14294226 Loss Renal cell carcinoma References 21215367 chr9 14322415 14323415 Gain Cancer Human 24 color M-FISH 21215367 chr9 14322415 14323415 Gain Renal cell carcinoma References 21215367 chr9 14333515 14333574 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1437358 1438434 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 14380721 14380821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14415948 14744428 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 14426915 14427915 Gain Renal cell carcinoma References 21215367 chr9 14433938 14434009 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14433938 14434009 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14433938 14434009 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14438000 17312000 Amplification Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr9 14513741 14514741 Loss Cancer Human 24 color M-FISH 21215367 chr9 14513741 14514741 Loss Renal cell carcinoma References 21215367 chr9 14515097 22847775 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr9 14521843 14522843 Gain Chordoma References 21215367 chr9 14521914 14522040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14545513 14683474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 14545513 14683480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14583575 14584181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14592657 14592757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1 4600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 1 4600000 Deletion Gastric cancer Array CGH 16715143 chr9 1 4600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 1 4600000 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr9 146026001 140273252 Deletion Glioma mate-paired sequence 20126413 chr9 14603695 14604695 Gain Renal cell carcinoma References 21215367 chr9 14607036 14683474 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 14607036 14683474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 14607036 14683474 Gain and loss Pancreatic cancer SNP array 17952125 chr9 14607036 14683474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14617028 14693472 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14617028 14693472 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14617028 14693472 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 1462542 2437910 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr9 14639846 15798216 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 14641843 14641928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14663695 14708568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 1 46700000 Loss Gastric cancer - 21586687 chr9 14676699 14678587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 14677403 14677503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14680733 14681733 Gain Chordoma References 21215367 chr9 14691613 14721879 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 14709731 14712715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 14709731 14712715 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 14709731 14712715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14710088 14712670 Gain and loss Pancreatic cancer SNP array 17952125 chr9 14719731 14722715 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14719731 14722715 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14719731 14722715 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14727150 14900353 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 14727150 14900353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14727150 14900993 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 14727364 14764159 Gain and loss Pancreatic cancer SNP array 17952125 chr9 14737150 14910234 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14737150 14910234 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14737150 14910234 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 1476987 1558917 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 14787599 14787699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14809687 14841742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 14840335 14840433 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 14840427 14840532 Gain and loss Pancreatic cancer SNP array 17952125 chr9 14840427 14840533 Gain and loss Pancreatic cancer SNP array 17952125 chr9 14840427 14840533 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14858771 14859305 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 14877445 14877633 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14877449 14877549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1 49000000 Amplification Esophageal squamous carcinoma CGH 18350619 chr9 1 49000000 Deletion Acute lymphoblastic leukemia FISH 18957548 chr9 1 49000000 Deletion Neuroblastoma Affymetrix 50K, 250K SNP arrays from 18664255 chr9 1 49000000 LOH Myeloproliferative neoplasm eneChip 50K Xba SNP arrays 17564968 chr9 1 49000000 Loss Malignant meningioma Array CGH 17937814 chr9 1 49000000 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 14911335 14912356 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14911341 14912350 Gain and loss Pancreatic cancer SNP array 17952125 chr9 14920687 14922431 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14920687 14922431 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14920687 14922431 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14922965 14923065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14958608 14958708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 14980485 15038399 Loss Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 14983345 15009614 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 14983345 15009713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 14984419 15030333 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 14984419 15030333 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 14987159 15009614 Gain and loss Pancreatic cancer SNP array 17952125 chr9 14993325 15019722 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14993325 15019722 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 14993325 15019722 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15024178 15038059 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15040617 15041794 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 15045054 15046032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15054976 15056598 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15054976 15056598 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15054976 15056598 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15055431 15055531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1506681 1506764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 15100001 16150002 Loss Ovarian cancer QPCR 19835627 chr9 1 511029 LOH Normal High-resolution SNP genotyping 21211785 chr9 15140890 15141890 Gain Renal cell carcinoma References 21215367 chr9 15143749 15144749 Gain Renal cell carcinoma References 21215367 chr9 15147711 15149772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 15149849 15269802 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 15161560 15297244 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 15161561 15297244 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15161561 15297250 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 15161561 15297250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 15161561 15297250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15171561 15307244 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15171561 15307244 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15171561 15307244 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 1 51800000 Copy number Glioma multiple ligation-dependent probe amplification 21971842 chr9 1 51800000 Copy number Small bowel adenocarcinoma BAC arrays and 30K oligonucleotide arrays 21586687 chr9 1 51800000 Deletion Esophageal squamous carcinoma CGH 21637470 chr9 1 51800000 Deletion Ewing's sarcoma CGH(Reference) 21437220 chr9 1 51800000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 1 51800000 Duplication Non-syndromic sensorineural hearing loss Multiplex Ligation-dependent Probe Amplification (MLPA) 18471307 chr9 1 51800000 Gain Astrocytoma CGH 17387387 chr9 1 51800000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr9 1 51800000 Gain Medulloblastoma SNP arrays 21979893 chr9 1 51800000 Gain or loss Endometrial cancer CGH 22040021 chr9 1 51800000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr9 1 51800000 Loss Astrocytoma CGH 17387387 chr9 1 51800000 Loss Breast cancer aCGH 21264507 chr9 1 51800000 Loss Glioblastoma multiforme aCGH 21080181 chr9 1 51800000 Loss Glioblastoma multiforme CGH 17387387 chr9 1 51800000 Loss Glioblastoma multiforme CGH 19960244 chr9 1 51800000 Loss Glioblastoma multiforme conventional CGH 21080181 chr9 1 51800000 Loss Hepatocellular carcinoma CGH 22174799 chr9 1 51800000 Loss of heterozygosity Cutaneous squamous cell carcinomas 250K Nsp SNP array 19131950 chr9 1 51800000 Loss Oligodendroglial tumors CGH 17285580 chr9 15210864 15210964 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15210864 15210982 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15210864 15210982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 152931 10776275 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr9 15305058 16344198 LOH Normal High-resolution SNP genotyping 21211785 chr9 153131 140241935 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr9 153131 44199460 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr9 153160 21931457 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr9 15337270 15337370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 15351381 15352137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15361372 15362202 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15361372 15362202 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15361372 15362202 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15384881 15385196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 15412732 15455830 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 15412732 15455830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 15412732 15455830 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15412732 15455830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15421902 15421983 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15421902 15421983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15422782 15461627 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15422782 15461627 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15422782 15461627 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15447366 31789561 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 15454064 15501003 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 15454064 15501003 Gain or loss Breast cancer - 20668451 chr9 15454064 15501003 Gain or loss Cancer - 20668451 chr9 15454064 15501003 Gain or loss Lung cancer - 20668451 chr9 15454064 15501003 Gain or loss Ovarian cancer - 20668451 chr9 15454064 15501003 Gain or loss Pancreas cancer - 20668451 chr9 15454064 15501003 Gain or loss Prostate cancer - 20668451 chr9 15454064 15501003 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 15454067 15500989 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 15454067 15500989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 15454067 15500989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15454067 15500991 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15460633 15500989 Amplification or deletion Cancer Array CGH 17440070 chr9 15461826 18664104 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 15464064 15511003 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15464064 15511003 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15464064 15511003 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15464338 72964397 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 15515780 15516079 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15515780 15516079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15515782 15516079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15517131 15517681 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 15517131 15517681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15517131 15517859 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15524574 15524705 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15524574 15524705 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15524574 15524705 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15526970 15527884 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15526970 15527884 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15526970 15527884 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15534186 15534292 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15534186 15534292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15540871 15541171 Gain Renal cell carcinoma References 21215367 chr9 15542895 15961897 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15543005 15964031 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 15543005 15964031 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 15543005 15964031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15553097 15971897 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15553097 15971897 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15553097 15971897 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15553617 15553683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 15561768 15561863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 15578353 15578613 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 15588353 15588613 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15588353 15588613 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15588353 15588613 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 15592581 15592666 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 15641852 15673001 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 15701275 15702275 Gain Chordoma References 21215367 chr9 15703851 15704851 Gain Chordoma References 21215367 chr9 15710059 15727099 Loss Normal 244K array 17666407 chr9 1571783 5265163 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.7 20877625 chr9 15718673 15719673 Loss Renal cell carcinoma References 21215367 chr9 15742258 15742358 Insertion Non-syndromic sensorineural hearing loss - 22037309 chr9 15766179 15766284 Gain and loss Pancreatic cancer SNP array 17952125 chr9 15766179 15766284 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 15795220 15816433 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 1579757 1580057 Gain Renal cell carcinoma References 21215367 chr9 15798873 16657694 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 15801942 15827639 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 15805306 15811941 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 15805306 15811944 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 15805307 15811940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 15807001 15809500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 15831689 15831819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1593886 1593975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 15962167 15995792 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 1 597186 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-631K arrays 21546498 chr9 15990812 16644155 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 16045671 16045739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16061336 16064727 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 16139731 16139825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16151166 16151266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16160551 16160651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16175370 16193744 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 16176123 17023840 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr9 16193933 16266311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 16193933 16266311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 16193933 16266311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 16238530 16238563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16258321 16258401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16264423 16298462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 16279391 16280270 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 16280932 16280973 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16282149 16282249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16292795 16292895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1631614 1631806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1631825 1632020 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16322324 16322430 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 1636808 1764037 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr9 16379395 16379730 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 16379836 16388649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 16395062 16396062 Loss Renal cell carcinoma References 21215367 chr9 16399501 16860786 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 16399501 16860786 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 16399501 16860786 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 16408579 16860668 Gain and loss Pancreatic cancer SNP array 17952125 chr9 16409501 16870786 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 16409501 16870786 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 16409501 16870786 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 16442087 16443087 Gain Renal cell carcinoma References 21215367 chr9 16453287 16453593 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 164727 1247806 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 16492685 17161111 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 1 65900000 Gain Basal cell lymphoma Array CGH 16317097 chr9 1 65900000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr9 16600000 18500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 16600000 19900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 16630702 18244023 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 16631966 16799203 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 16648915 19021758 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 16654853 16654970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 16682403 16682475 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16721784 16721884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16726812 16727522 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 16726812 16727522 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 16726812 16727522 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 16764546 16764645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16765576 16765855 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 16833773 16838442 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 16837394 16837518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 16837804 16838790 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 16872533 16875017 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 168877 170976 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 168877 170976 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 168877 170976 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 16895593 16895922 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 16938400 16942875 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 16947421 16947496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 16991118 16991243 Gain and loss Pancreatic cancer SNP array 17952125 chr9 16991118 16991243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 16992434 28819491 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 17043899 17044200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 17043908 17044202 Gain and loss Pancreatic cancer SNP array 17952125 chr9 17043908 17044202 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1705558 1705630 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 17062495 17062595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17062603 17062787 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17086299 17086444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1 708871 Deletion Cancer Affymetrix 250K Sty array 20164920 chr9 17096255 17134976 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17096255 17134976 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17096255 17134976 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17098302 17098602 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 17108299 17108632 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17108299 17108632 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17108299 17108632 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17124980 17493915 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 17124980 17493915 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 17124980 17493915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 17125034 17485003 Gain and loss Pancreatic cancer SNP array 17952125 chr9 17135038 17503917 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17135038 17503917 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17135038 17503917 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17161111 18062033 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 17184801 17184901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17231278 17231378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17267057 17267282 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 17342284 17347818 Amplification Medulloblastoma Illumina SNP arrays 21163964 chr9 17350372 17350470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17391463 17396983 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 17425583 17425673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17437143 17438541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 17440077 17517626 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 17454719 17455719 Loss Renal cell carcinoma References 21215367 chr9 1746749 1746800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 17489347 18520255 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 17535415 70631943 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 17537737 27652962 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 17539831 26426258 Deletion Cancer CGH 22183965 chr9 17539831 26426258 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 chr9 175632 422918 Gain Autism qPCR, Affy 6.0 20531469 chr9 17569193 17787122 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 17569194 17787118 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 17569194 17787118 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 17569194 17787118 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 17569194 17787120 Gain and loss Pancreatic cancer SNP array 17952125 chr9 17578953 17797122 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17578953 17797122 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17578953 17797122 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17578988 17747136 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17578988 17747136 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17578988 17747136 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 17579159 17581316 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 17581829 17620500 Duplication Thoracic aortic aneurysm Illumina SNP arrays 21698135 chr9 17595865 17595965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1761819 1777687 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 1761819 1777880 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 17644515 17645515 Gain Renal cell carcinoma References 21215367 chr9 17654237 17655237 Loss Renal cell carcinoma References 21215367 chr9 176603 30945393 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr9 17708102 17708232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17715122 17715156 Insertion Non-syndromic sensorineural hearing loss - 22037309 chr9 17724585 17725585 Gain Renal cell carcinoma References 21215367 chr9 17750001 18550002 Loss Ovarian cancer QPCR 19835627 chr9 1779626 1780626 Gain Chordoma References 21215367 chr9 17819349 17819429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17826353 17854938 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 17874422 17874503 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1788053 1788107 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 17896001 17897500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 17900038 17901633 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 17901528 17901628 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1 79200000 Loss Breast cancer Microarray-based CGH 17133270 chr9 1 792189 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-626K arrays 21546498 chr9 17922545 23361042 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-621K arrays 21546498 chr9 17933834 17933912 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 17974340 18263439 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 17977501 17977553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 17991397 17991497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18001195 18001295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18047146 18047246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18057527 18060964 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 18090608 18090708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18090627 18090927 Gain Chordoma References 21215367 chr9 18099813 18119772 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 18157124 18157224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18177075 18178075 Loss Chordoma References 21215367 chr9 182129 207099 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 18243969 19048821 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 18265829 18265929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18276561 18276738 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 18313276 18343982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 1832661 1834112 Deletion small cell lung cancer array-CGH 20016488 chr9 18368545 18368645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1838684 1838779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18386975 18387065 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 1 8427315 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-628K arrays 21546498 chr9 18437645 18437745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1846170 1846270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18463892 18900948 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 18464098 18900948 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 18464098 18900948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 18464099 18713262 Gain and loss Pancreatic cancer SNP array 17952125 chr9 18464103 18900947 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 18474104 18910948 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 18474104 18910948 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 18474104 18910948 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 18482965 18483965 Loss Chordoma References 21215367 chr9 18498892 18499229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 18500000 19900000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 18500000 25500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 18519849 18553942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 18547776 18547876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18576934 18599801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 18636324 18636424 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18638901 18639001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18641149 18641370 Gain and loss Pancreatic cancer SNP array 17952125 chr9 18641149 18641370 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 18641931 19520883 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 18645961 18650695 Loss Autism - 20841430 chr9 18660558 18660656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18667537 18828494 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 18707976 18708525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 18718226 18718326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18816136 18900292 Gain and loss Pancreatic cancer SNP array 17952125 chr9 18824835 18824925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 188707 27863525 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chr9 188707 27863525 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr9 18891898 18935068 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 18906957 18907038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 18917890 19023251 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 18917890 19023251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 18917893 19023184 Gain and loss Pancreatic cancer SNP array 17952125 chr9 18927893 19033184 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 18927893 19033184 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 18927893 19033184 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 18983768 19243114 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr9 1 9000000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr9 1 9000000 Amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 chr9 1 9000000 Copy number Normal - 21701786 chr9 1 9000000 Deletion Disorders of sex development aCGH 22290220 chr9 1 9000000 Gain Glioblastoma multiforme aCGH 21080181 chr9 1 9000000 Gain Non-small cell lung cancer dChip 21829676 chr9 1 9000000 Gain or amplification Primary mediastinal b-cell lymphoma Array CGH 17728785 chr9 1 9000000 Gain Primary mediastinal b-cell lymphoma Array CGH 17728785 chr9 1 9000000 Gain Sudden cardiac death CGH 19188705 chr9 1 9000000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr9 1 9000000 Loss Cancer array-based techniques 21183584 chr9 1 9000000 Loss Disorders of sex development - 21048976 chr9 1 9000000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chr9 1 9000000 Microdeletion Non-small cell lung cancer - 21952639 chr9 190000 33180000 Loss Acute lymphoblastic leukemia - 21339820 chr9 19007868 19017880 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 19016890 19018127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19017022 19018126 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19026890 19028193 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19026890 19028193 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19026890 19028193 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19032340 20480069 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 19039371 19041021 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 19039372 19041019 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 19039372 19041019 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19039402 19040981 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19043142 19092902 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 19043142 19092902 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19043142 19092902 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19049372 19051023 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19049372 19051023 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19049372 19051023 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19053141 19102902 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19053141 19102902 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19053141 19102902 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19053654 19053784 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19053654 19053784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19063654 19063784 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19063654 19063784 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19063654 19063784 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19063842 19063916 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19063842 19063916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19079591 19079683 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19079591 19079684 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19079591 19079686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 1 9098781 Deletion Intellectual disability Array CGH 22102821 chr9 19104394 19105394 Loss Renal cell carcinoma References 21215367 chr9 19105758 19117573 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 19105760 19117573 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 19105760 19117573 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19105760 19117573 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19112485 19112580 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 19115759 19127573 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19115759 19127573 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19115759 19127573 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19139782 19139875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 19151145 19161247 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 19152016 19218373 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 19188335 19188404 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 19190333 19191044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19197014 19197114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 19198455 19742108 LOH Normal High-resolution SNP genotyping 21211785 chr9 19200321 19201053 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19200321 19201053 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19200321 19201053 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19200699 19948773 LOH Normal High-resolution SNP genotyping 21211785 chr9 19228902 19231241 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19228902 19231241 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19228902 19231241 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19269053 19269301 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 19269055 19269304 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 19278622 19362856 Gain and loss Pancreatic cancer SNP array 17952125 chr9 1927978 1935497 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 19280701 19364139 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 19280749 19364139 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 19280749 19364139 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 19280749 19364139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19290749 19374139 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19290749 19374139 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19290749 19374139 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19330521 19841227 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 19366253 19370235 Gain or loss Breast cancer - 20668451 chr9 19366253 19370235 Gain or loss Cancer - 20668451 chr9 19366253 19370235 Gain or loss Lung cancer - 20668451 chr9 19366253 19370235 Gain or loss Ovarian cancer - 20668451 chr9 19366253 19370235 Gain or loss Pancreas cancer - 20668451 chr9 19366253 19370235 Gain or loss Prostate cancer - 20668451 chr9 19366253 19385742 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 19366254 19385742 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 19366254 19385742 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19366256 19370238 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19373220 19373878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19374943 32371008 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 19376254 19380235 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19376254 19380235 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19376254 19380235 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19383215 19408981 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19383215 19408981 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19383215 19408981 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19398924 19442500 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 19398925 19442500 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 19398925 19442500 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 19398925 19442500 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19398925 19442500 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19408925 19452500 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19408925 19452500 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19408925 19452500 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19438473 20903797 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 19439158 19484098 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 19440112 20338807 Deletion Normal Arbitrated Peel-off 21527027 chr9 19440112 20649504 Deletion Normal GeneGISTIC 21527027 chr9 19440112 20649504 Deletion Normal Standard peel-off 21527027 chr9 19450924 19451301 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19450924 19451304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19460924 19490506 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19460924 19490506 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19460924 19490506 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19463932 19464006 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 19482826 19482999 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19482826 19482999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19499041 19500041 Gain Renal cell carcinoma References 21215367 chr9 19502794 19503094 Loss Renal cell carcinoma References 21215367 chr9 19503121 19503582 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 19505977 19776926 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 19505978 19776926 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 19505978 19776926 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 19505978 19776926 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19505978 19776926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 195098 261286 Gain Normal 244K array 17666407 chr9 19515978 19786926 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19515978 19786926 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19515978 19786926 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19553683 19553846 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 19563316 20901212 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 19629264 19630264 Loss Renal cell carcinoma References 21215367 chr9 19632673 19632984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 19639000 24327000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr9 19650001 20800002 Loss Ovarian cancer QPCR 19835627 chr9 19650991 19651991 Gain Renal cell carcinoma References 21215367 chr9 19661769 19663474 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 19661908 19662008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 1967784 1968547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19695336 19695653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 19719665 19750152 Deletion Normal Standard GISTIC 21527027 chr9 19726356 19933585 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 19771070 19772070 Loss Renal cell carcinoma References 21215367 chr9 19776217 20520136 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 19776372 20649504 Deletion Normal Arbitrated Peel-off 21527027 chr9 19814344 20669630 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 19831044 19831139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 19858660 19858960 Gain Chordoma References 21215367 chr9 19885795 19885974 Gain and loss Pancreatic cancer SNP array 17952125 chr9 19895560 19895980 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19895560 19895980 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19895560 19895980 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19900000 25500000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 19900000 25500000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr9 19900000 25500000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr9 19900000 25500000 Deletion Cancer Array CGH Analysis 21253487 chr9 19900000 25500000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr9 19900000 25500000 Deletion Ewing's sarcoma dPCR, FISH(Reference) 21437220 chr9 19900000 25500000 Deletion Glioblastoma multiforme Agilent Human aCGH 244A arrays 22291905 chr9 19900000 25500000 Deletion Glioblastoma multiforme Human 50K XbaI/250K Nsp arrays 19435819 chr9 19900000 25500000 Deletion head and neck squamous cell carcinoma Affymetrix SNP 6.1 array 21798897 chr9 19900000 25500000 Deletion Lung cancer aCGH 21911935 chr9 19900000 25500000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 19900000 25500000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 126 samples 21899760 chr9 19900000 25500000 Deletion Primary central nervous system lymphoma Agilent Human Genome CGH Microarray Kit 4*44K 21088137 chr9 19900000 25500000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 19900000 25500000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 19900000 25500000 Homozygous deletion Intracranial ependymoma matrix-based CGH 16609018 chr9 19900000 25500000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr9 19900000 25500000 Loss Barrett's adenocarcinoma FISH 18663352 chr9 19900000 25500000 Loss Gastrointestinal stromal cancer array CGH 16982739 chr9 19900000 25500000 Loss Glioblastoma multiforme aCGH 21080181 chr9 19900000 25500000 Loss Glioblastoma multiforme Human Genome 44K and 244K CGH oligonucleotide microarrays 21922591 chr9 19900000 25500000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 19900000 25500000 Loss T-cell acute lymphoblastic leukemia Array-CGH 19406988 chr9 19900000 25500000 Loss Urothelial cell carcinoma FISH 18451213 chr9 19900000 25600000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 chr9 19900000 25600000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr9 19900000 25600000 Deletion Acute lymphoblastic leukemia human 500K SNP arrays 18768390 chr9 19900000 25600000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr9 19900000 25600000 Deletion Leukemia MIP PCR 19602459 chr9 19900000 25600000 Deletion Mental retardation array CGH 17124404 chr9 19900000 25600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 19900000 25600000 Loss Acute monocytic leukemia BioPrime Array CGH 16498392 chr9 19900000 25600000 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr9 19900000 25600000 Loss Leukemia RQ-PCR 18688285 chr9 19900000 25600000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr9 19900000 25600000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr9 19900000 28000000 Copy number Acute myeloid leukemia Affymetrix 100K and 500K SNP microarrays 19651601 chr9 19900000 28100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 19900000 32800000 Copy number Coronary Disease SNP array 20032323 chr9 19900000 32800000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chr9 19900000 32800000 Copy number Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 chr9 19900000 32800000 Copy number Squamous cell cancer aCGH 20885788 chr9 19900000 32800000 Deletion Ewing's sarcoma CGH (Agilent 44 K and 244 K), Taqman qRT-PCR, FISH, Southern Blot and MLPA(Reference) 21437220 chr9 19900000 32800000 Deletion Ewing's sarcoma Karyotyping,CGH, FISH,Southern Blot,Affymetrix SNP Microarray and MLPA(Reference) 21437220 chr9 19900000 32800000 Insertion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chr9 19900000 32800000 Loss Cancer array-based techniques 21183584 chr9 19900000 32800000 Loss Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chr9 19900000 32800000 Loss Diffuse large b-cell lymphoma QMPSF assay 18287131 chr9 19900000 32800000 Loss Metastatic melanoma FISH, Enzo BioArray CGH Labeling System 18483359 chr9 19900000 32800000 Loss Non-small cell lung cancer In situ minichips 20864512 chr9 19900000 32800000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 chr9 19900000 33200000 Copy number Chagasic megaesophagus FISH 20163722 chr9 19900000 33200000 Copy number Glioblastoma Array CGH 17090523 chr9 19900000 33200000 Copy number Melanoma References 19566914 chr9 19900000 33200000 Copy number Squamous cell cancer Real-time PCR 19047905 chr9 19900000 33200000 Deletion Lung cancer Relied on a multipoint score function 16773561 chr9 19900000 33200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 19900000 33200000 LOH Adenoid cystic carcinoma Affymetrix GeneChip Human Mapping 100K Set 17372589 chr9 19900000 33200000 LOH Colorectal cancer Genechip Mapping 10K early access array 16774939 chr9 19900000 33200000 Loss Bladder cancer Affymetrix GeneChip Mapping 10K 2.0 19088036 chr9 19900000 33200000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr9 19900000 33200000 Loss Glioblastoma multiforme FISH and array CGH 17369134 chr9 19900000 33200000 Loss Lung adenocarcinoma Agilent 44k arrays 19525976 chr9 19900000 33200000 Loss Lung cancer Agilent 44k arrays 19525976 chr9 19900000 33200000 Loss Malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr9 19900000 33200000 Loss Melanoma FISH 16977458 chr9 19900000 33200000 Loss Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr9 19900000 36300000 Gain Hodgkin's lymphoma Array CGH 18179710 chr9 19900000 40200000 Deletion Normal - 21541734 chr9 19900000 41000000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 19900000 51800000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr9 1990684 2227390 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 1990969 1991294 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 19930143 20420468 Duplication with LOH Pleomorphic xanthoastrocytoma SNP array 20730472 chr9 19935408 19969735 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 19937889 19937984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 19949919 19949989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 19957366 19958012 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19957366 19958012 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19957366 19958012 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 19959839 19960262 Loss Normal 244K array 17666407 chr9 20013757 20014757 Gain Renal cell carcinoma References 21215367 chr9 20026116 23528896 Deletion Glioma mate-paired sequence 20126413 chr9 20030399 20075273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 2005219 2183624 Gain and loss Pancreatic cancer SNP array 17952125 chr9 2005341 2183623 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 2005342 2183620 Deletion T-cell lymphomas Array-CGH 22341440 chr9 2005342 2183624 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 2005342 2183624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 2005342 2183624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20067963 20069069 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 20088711 20543077 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 20108090 20506233 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 20124686 20124786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 201336 16470976 Duplication Intellectual disability Array CGH 22102821 chr9 20144 20281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 2015342 2193624 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2015342 2193624 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2015342 2193624 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20155635 21155635 Deletion or amplification Glioblastoma multiforme - 21525872 chr9 20191233 21191233 Deletion or amplification Glioblastoma multiforme - 21525872 chr9 20228152 21008574 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 20235876 20236176 Loss Chordoma References 21215367 chr9 20240063 20280240 Deletion Glioblastoma multiforme Array CGH 19115005 chr9 202824 205741 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 202824 205741 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 202824 205741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20285002 20285086 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20310302 21615196 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 20317754 25227815 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 2032100 2047878 Loss Peripheral t-cell lymphoma Array-based CGH 19118030 chr9 20321444 20322275 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20322528 20323528 Gain Chronic lymphocytic leukemia References 21215367 chr9 20331406 20332375 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20331406 20332375 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20331406 20332375 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20334967 20612450 Amplification Cancer Array CGH 17440070 chr9 20334967 20612450 Deletion Melanoma Array CGH 17440070 chr9 20334967 20612450 Deletion Pancreas cancer Array CGH 17440070 chr9 20334967 20612514 Copy number Lung cancer - 20668451 chr9 20334967 20612514 Gain or loss Breast cancer - 20668451 chr9 20334967 20612514 Gain or loss Cancer - 20668451 chr9 20334967 20612514 Gain or loss Lung cancer - 20668451 chr9 20334967 20612514 Gain or loss Ovarian cancer - 20668451 chr9 20334967 20612514 Gain or loss Pancreas cancer - 20668451 chr9 20334967 20612514 Gain or loss Prostate cancer - 20668451 chr9 20334968 20612505 Gain and loss Pancreatic cancer SNP array 17952125 chr9 20334968 20612514 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 20334968 20612514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20335074 20612517 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 20336123 24769734 Deletion Glioblastoma multiforme Array CGH 19115005 chr9 20344968 20622514 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20344968 20622514 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20344968 20622514 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20377675 20377775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20408319 20408385 Gain and loss Pancreatic cancer SNP array 17952125 chr9 20408319 20408434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20408319 20408447 Gain and loss Pancreatic cancer SNP array 17952125 chr9 204166 779985 Duplication Developmental delay array CGH 20808231 chr9 204166 779985 Duplication Obesity array CGH 20808231 chr9 20424814 20425814 Gain Cancer Human 24 color M-FISH 21215367 chr9 20424814 20425814 Gain Renal cell carcinoma References 21215367 chr9 20430439 21430439 Deletion or amplification Glioblastoma multiforme - 21525872 chr9 204367 8832561 Duplication Myelodysplastic syndrome - 21251322 chr9 20437254 20437554 Loss Chordoma References 21215367 chr9 20437404 20438404 Loss Cancer Human 24 color M-FISH 21215367 chr9 20451775 23120500 Homozygous deletion Pleomorphic xanthoastrocytoma SNP array 20730472 chr9 20453319 20454319 Gain Cancer Human 24 color M-FISH 21215367 chr9 20453319 20454319 Gain Renal cell carcinoma References 21215367 chr9 20462835 20462927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20482979 20483069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 204864 455259 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 20520391 20520491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20522550 20523337 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20522562 20522815 Gain and loss Pancreatic cancer SNP array 17952125 chr9 20532524 20533396 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20532524 20533396 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20532524 20533396 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20601814 20601914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20624130 21446295 LOH Normal High-resolution SNP genotyping 21211785 chr9 20638805 39005654 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 20648308 20985954 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 20648308 20985954 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 20648308 20985954 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20648308 20985954 Loss Colorectal cancer Copy Number Analyzer for Affymertix GeneChip Mapping arrays v2.0,Affymetrix Genotyping Console v2.1 21128281 chr9 20658309 20995954 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20658309 20995954 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20658309 20995954 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2068282 2068382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20703865 20703965 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20706104 20706187 Gain and loss Pancreatic cancer SNP array 17952125 chr9 20706104 20706187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20716104 20716187 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20716104 20716187 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20716104 20716187 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 20776926 20777054 Gain and loss Pancreatic cancer SNP array 17952125 chr9 20776926 20777054 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20776928 20777054 Gain and loss Pancreatic cancer SNP array 17952125 chr9 20789776 20791650 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 20791650 20791654 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 20791654 20794674 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 20792634 21792634 Deletion or amplification Glioblastoma multiforme - 21525872 chr9 20794674 20797390 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 20797390 20800158 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 20803508 20803608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20817623 20849652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 20823666 23049991 Deletion Glioblastoma multiforme 244K oligo array 21138945 chr9 20827418 20827718 Gain Renal cell carcinoma References 21215367 chr9 20831118 20831218 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2084384 2084454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20851985 21171667 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 20852311 20853311 Gain Renal cell carcinoma References 21215367 chr9 20864000 26312000 Loss Adenoid cystic carcinoma oligo 44k CGH Agilent micro arrays 18332873 chr9 20866848 20866906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20869780 20869859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20879180 21734300 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 20901921 20902921 Gain Cancer Human 24 color M-FISH 21215367 chr9 20901921 20902921 Gain Renal cell carcinoma References 21215367 chr9 20909558 21727329 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 20911332 23837615 Copy number Cancer CGH 20581869 chr9 20919357 20985952 Gain and loss Pancreatic cancer SNP array 17952125 chr9 20930130 21097470 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 20948128 20948195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 20957751 21957751 Deletion or amplification Glioblastoma multiforme - 21525872 chr9 20985306 21021635 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 20992666 21192369 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr9 20992905 21992905 Deletion or amplification Glioblastoma multiforme - 21525872 chr9 20993624 21021635 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 20993625 21019319 Gain and loss Pancreatic cancer SNP array 17952125 chr9 20994343 21884182 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 20996364 21021635 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 20996365 21021635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 20996400 21158464 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 20998377 21079454 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 2100000 7400000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chr9 21006365 21031635 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21006365 21031635 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21006365 21031635 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21016549 21016649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21029705 21030705 Loss Renal cell carcinoma References 21215367 chr9 21048770 21049322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21048770 21049322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21058770 21059322 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21058770 21059322 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21058770 21059322 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21060888 21143835 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 21067104 21067962 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21067104 21067962 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21067104 21067962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21067305 21067868 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21067574 21853574 Loss Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr9 21077104 21077943 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21077104 21077943 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21077104 21077943 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21080948 21484861 Deletion Intellectual disability Array CGH 22102821 chr9 21096404 21096908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21096510 21106829 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21096510 21106829 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21096510 21106829 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21096626 22880450 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 21109527 21109709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21114875 23278698 Loss Oral cancer oligonucleotide Human Genome CGH 105K array platform 22144094 chr9 21130213 21132144 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21130213 21132144 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21130213 21132144 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21130982 21131569 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21133020 22448980 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 21133020 42930351 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 21140631 21142144 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21140631 21142144 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21140631 21142144 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21141632 21141732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21150234 21150335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21150235 21150335 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21150236 21150335 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21155636 21156659 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21155636 21156659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21155636 21156659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21156042 21156611 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21164142 21176567 Deletion Normal Standard GISTIC 21527027 chr9 21165636 21166659 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21165636 21166659 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21165636 21166659 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21168594 21169187 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21171667 21752907 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 21176693 21177670 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21176693 21177670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21176693 21177670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21176961 21177530 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21178588 21179187 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21178588 21179187 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21178588 21179187 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21180653 21181243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21181000 22194000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr9 21186617 21187598 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21186617 21187598 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21186617 21187598 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21190145 21191243 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21190145 21191243 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21190145 21191243 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21191234 21229990 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21191234 21229990 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21191234 21229990 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21191234 21229990 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21191468 21192204 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21191468 21192204 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21191468 21192204 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21193 244485 Copy number Autism exome sequencing 22495311 chr9 21196180 21197142 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21196180 21197142 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21196180 21197142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21196527 21197096 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21199188 21199778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21199285 21226029 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 21201468 21202204 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21201468 21202204 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21201468 21202204 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21206180 21207142 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21206180 21207142 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21206180 21207142 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21206372 21207310 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21206372 21207310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21206372 21207310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21208931 21209356 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21208931 21209356 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21208931 21209356 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2120977 2133626 Loss Peripheral t-cell lymphoma Array-based CGH 19118030 chr9 21210000 21630000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr9 21210771 22953086 Loss Barrett's syndrome BAC array 19417022 chr9 21216372 21217310 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21216372 21217310 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21216372 21217310 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21217242 21218221 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21217242 21218221 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21217242 21218221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21217603 21218172 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21221265 21221852 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21227242 21228221 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21227242 21228221 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21227242 21228221 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21230820 21231852 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21230820 21231852 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21230820 21231852 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21239201 21239978 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21239201 21239978 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21239201 21239978 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 212399 32604310 Loss Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 21261782 21261935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21268054 21268618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21278048 21278617 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21278048 21278617 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21278048 21278617 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21294151 21852584 LOH Normal High-resolution SNP genotyping 21211785 chr9 21294325 21295311 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21294325 21295311 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21294325 21295311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21294686 21295255 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21304686 21305255 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21304686 21305255 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21304686 21305255 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 213108 215893 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 213108 215893 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 213108 215893 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21311299 21311589 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21311299 21311826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21314053 21325429 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 21319670 21325379 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21319670 21325379 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21319670 21325379 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21323005 21324903 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21331018 21335429 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21331018 21335429 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21331018 21335429 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21339834 21341377 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21339834 21341377 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21339834 21341377 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21340317 21340886 Gain and loss Pancreatic cancer SNP array 17952125 chr9 2134 3439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21350317 21350886 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21350317 21350886 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21350317 21350886 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21357423 21358961 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21357423 21358961 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21357423 21358961 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21357437 21358006 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21362123 21701815 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 2136346 29639063 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 21367371 21368075 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21367371 21368075 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21367371 21368075 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21370303 21505928 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 21374253 21375387 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21374253 21375387 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21374253 21375387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21374762 21375328 Gain and loss Pancreatic cancer SNP array 17952125 chr9 2138307 2139307 Gain Cancer Human 24 color M-FISH 21215367 chr9 2138307 2139307 Gain Renal cell carcinoma References 21215367 chr9 21384254 21385396 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21384254 21385396 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21384254 21385396 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2138838 2142141 Copy number Breast cancer Affymetrix SNP 6.3 22522925 chr9 21388613 21389138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21388866 21389029 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21393080 21393650 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21394887 21402975 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21394887 21402975 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21394887 21402975 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21399146 21400184 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21399146 21400184 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21399146 21400184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21399176 21399745 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21403144 21403653 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21403144 21403653 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21403144 21403653 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21409146 21410184 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21409146 21410184 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21409146 21410184 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21410233 21410812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21420295 21421164 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21420295 21421164 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21420295 21421164 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21422589 21422889 Gain Chordoma References 21215367 chr9 21429839 22130120 LOH Normal High-resolution SNP genotyping 21211785 chr9 21430440 21431315 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21430440 21431315 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21430440 21431315 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21430440 21431315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21433581 21433681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21438448 21504364 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 21440440 21441315 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21440440 21441315 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21440440 21441315 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21444270 21549697 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21444270 21549697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21445483 21446044 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21445722 21445937 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21454267 21559697 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21454267 21559697 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21454267 21559697 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21455337 21456166 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21455337 21456166 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21455337 21456166 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21457739 21458739 Loss Chronic lymphocytic leukemia References 21215367 chr9 21459325 21460325 Gain Renal cell carcinoma References 21215367 chr9 21464986 21465286 Gain Chronic lymphocytic leukemia References 21215367 chr9 21465000 21466000 Gain Chronic lymphocytic leukemia References 21215367 chr9 21470838 21472312 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 21471067 21471693 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21471067 21471693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21471067 21471693 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21471067 21471693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21474428 21474499 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21480838 21482312 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21480838 21482312 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21480838 21482312 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21489625 22474701 Deletion Cancer Affymetrix 250K Sty array 20164920 chr9 21493821 21981752 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr9 21500000 23400000 Gain Acute lymphoblastic leukemia - 21339820 chr9 21502100 21502204 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21502114 21502184 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21502114 21502184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21506373 21676227 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 21512114 21512184 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21512114 21512184 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21512114 21512184 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21523602 22115749 LOH Normal High-resolution SNP genotyping 21211785 chr9 2152763 2152953 Gain and loss Pancreatic cancer SNP array 17952125 chr9 2152763 2152953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 2152766 2152950 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21534743 22602390 Deletion Breast cancer FISH 17142309 chr9 21544457 22057830 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr9 21568438 21568538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21578603 22631633 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 2158853 2168719 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 21615196 21778860 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 21624401 21653726 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 21628344 21628648 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 216486 42667327 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr9 21673289 22280617 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21673289 23032805 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21675000 22538000 Deletion Ependymoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr9 21675000 22538000 Deletion Ewing's sarcoma Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr9 21675000 22538000 Deletion Glioblastoma multiforme Affymetrix 100K single nucleotide polymorphism GeneChip 18628472 chr9 21685172 21686935 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21685175 21686948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21689311 21689523 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21689311 21689523 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21690220 22064569 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21695173 21700072 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21695173 21700072 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21695173 21700072 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21695931 22087399 Deletion Ovarian cancer Agilent 244k,Agilent 415K,Agilent 1M,illumina 1MDUO,Affymetrix SNP6 21720365 chr9 21698371 22372349 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr9 21707144 21707188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21720332 22129892 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 21723360 22120652 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 21724873 21725873 Gain Renal cell carcinoma References 21215367 chr9 21725533 21725613 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21727329 22122115 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 21733000 31333000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr9 21733439 22076827 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr9 21734300 22133356 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 21735194 21735294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21745394 22145178 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 21754040 21786448 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 21765976 21802029 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.8 20877625 chr9 21777176 21778176 Loss Renal cell carcinoma References 21215367 chr9 21778000 22194000 Hemizygous loss Cancer 500K single nucleotide polymorphism arrays 17699850 chr9 21778000 22194000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 chr9 21778860 22282780 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 21779250 22131886 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21784393 21784693 Gain Chordoma References 21215367 chr9 21786655 21787655 Loss Renal cell carcinoma References 21215367 chr9 21787136 27678028 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr9 21789308 21790308 Loss Chronic lymphocytic leukemia References 21215367 chr9 21792635 21921198 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 21792635 21921198 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21792635 21921198 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr9 21792635 22019516 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21792635 22019516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21795270 21999029 Deletion Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr9 21800000 22190000 Deletion Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr9 21801620 21802346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21802635 21865970 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21802635 21865970 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21802635 21865970 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21805166 21998659 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21805166 22197037 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21805166 22326954 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21805166 23243097 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21805166 23432605 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21817421 21818357 Loss Normal 244K array 17666407 chr9 21818110 21995382 Copy number Acute lymphoblastic leukemia Affymetrix 6.0 SNP arrays 21248843 chr9 21818679 22326221 LOH Normal High-resolution SNP genotyping 21211785 chr9 2183009 2184009 Gain Chordoma References 21215367 chr9 21831398 22542559 LOH Normal High-resolution SNP genotyping 21211785 chr9 21833901 21909800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 21842925 22064248 Deletion Cancer ultra-high resolution array CGH 21272361 chr9 21853204 32834682 Deletion Acute myeloid leukemia - 21251322 chr9 21855498 22438737 Deletion Normal Arbitrated Peel-off 21527027 chr9 21855498 22438737 Deletion Normal GeneGISTIC 21527027 chr9 21855498 22438737 Deletion Normal Standard peel-off 21527027 chr9 21856831 21856911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 21857756 22197037 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 218822 3742630 Deletion Intellectual disability Array CGH 22102821 chr9 21884182 22138554 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 21890000 22310000 Loss Burkitt's lymphoma 244 K aCGH platform 19759907 chr9 21890124 21990770 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chr9 2189568 2189688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2189825 2200141 Loss Peripheral t-cell lymphoma Array-based CGH 19118030 chr9 2190011 2191011 Loss Chordoma References 21215367 chr9 21908055 21908371 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 21909801 21960400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 21912699 21913699 Loss Renal cell carcinoma References 21215367 chr9 21935605 21978896 Deletion Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 21948524 22185820 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 21948858 21949858 Gain Renal cell carcinoma References 21215367 chr9 21953419 21995192 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr9 21957137 21957738 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21957137 21957738 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr9 21957750 21984490 Deletion Acute lymphoblastic leukemia 250k Sty and Nsp SNP arrays 19129520 chr9 21957750 21984490 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chr9 21957750 21984490 Deletion Cancer References 17440616 chr9 21957750 21984490 Deletion Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 21957750 21984490 Deletion Lung cancer Bayesian Detection of Shared Aberrations for aCGH 21512611 chr9 21957750 21984490 Deletion Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 chr9 21957750 21984490 Deletion Renal cell carcinoma MCG Whole Genome Array-4500 21228928 chr9 21957750 21984490 Deletions,duplications Melanoma MLPA 19011513 chr9 21957750 21984490 Deletion T-cell acute lymphoblastic leukemia FISH 16270038 chr9 21957750 21984490 Deletion T-cell acute lymphoblastic leukemia FISH 20065082 chr9 21957750 21984490 Gain or loss Breast cancer - 20668451 chr9 21957750 21984490 Gain or loss Cancer - 20668451 chr9 21957750 21984490 Gain or loss Lung cancer - 20668451 chr9 21957750 21984490 Gain or loss Ovarian cancer - 20668451 chr9 21957750 21984490 Gain or loss Pancreas cancer - 20668451 chr9 21957750 21984490 Gain or loss Prostate cancer - 20668451 chr9 21957750 21984490 In Renal cell carcinoma MCG Whole Genome Array-4500 21228928 chr9 21957751 21984490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21957751 21984490 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21957751 21984490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21957751 21984490 Loss Metastatic melanoma FISH, Enzo BioArray CGH Labeling System 18483359 chr9 21957751 21984490 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr9 21958222 21984471 Amplification Cancer Array CGH 17440070 chr9 21958222 21984471 Deletion Lung cancer Array CGH 17440070 chr9 21958222 21984471 Deletion Melanoma Array CGH 17440070 chr9 21958222 21984471 Deletion Pancreas cancer Array CGH 17440070 chr9 21958223 21984471 Loss Neuroblastoma References 19638189 chr9 21960401 22061600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 21961026 21996064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 21963422 21974661 Deletion Breast cancer Illumina high-density SNP arrays 18852474 chr9 21967138 21967753 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21967138 21967753 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21967138 21967753 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21967750 21994490 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr9 21967750 21994490 Loss Malignant melanoma BAC array CGH 17260012 chr9 21967751 21994490 Copy number Lung adenocarcinoma Rneasy Mini kit 22272264 chr9 21967751 21994490 Deletion Neuroblastoma 44K Agilent aCGH chip 22034077 chr9 21967751 21994490 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21967751 21994490 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21967751 21994490 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21967751 21994490 Loss Glioblastoma multiforme - 21713760 chr9 21968346 21998655 Loss Bladder cancer array-CGH 21909424 chr9 21980551 39244358 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr9 21988733 24467128 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 21992901 21999312 Deletion Acute lymphoblastic leukemia 250k Sty and Nsp SNP arrays 19129520 chr9 21992901 21999312 Deletion Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chr9 21992901 21999312 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 21992901 21999312 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 21992901 21999312 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 21992909 21999312 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 21992909 21999312 Gain and loss Pancreatic cancer SNP array 17952125 chr9 21992909 21999312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 21992909 21999312 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr9 21994 225675 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 21994 293073 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 21994 293073 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 21994550 22121096 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21994550 22121096 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21994550 22121096 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 21995318 22001655 Deletion Normal Standard GISTIC 21527027 chr9 21998659 22280617 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 21998659 23813162 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 2200000 33200000 Loss Hepatocellular carcinoma Array CGH 18803288 chr9 2200000 4600000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 2200000 4600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 2200000 4600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 2200000 4600000 Gain Developmental delay Human whole genome oligonucleotide microarray kits 247K 21373258 chr9 2200000 9000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 2200000 9000000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 chr9 2200000 9000000 Loss Malignant fibrous histiocytomas aCGH 21085701 chr9 22002115 22002528 Gain and loss Pancreatic cancer SNP array 17952125 chr9 22002115 22002528 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr9 22002154 22002537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 22002901 22009312 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chr9 22002902 22009312 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22002902 22009312 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22002902 22009312 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22002905 22009312 Loss Glioblastoma multiforme - 21713760 chr9 22011949 22012537 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22011949 22012537 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22011949 22012537 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22023169 22123251 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 22025286 22025373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22027420 22027488 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22047961 22048038 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 22062526 22062626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22065339 22072580 Deletion Normal GISTIC2.0 21527027 chr9 2207720 2208020 Gain Chordoma References 21215367 chr9 22120652 24107112 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 22122115 24096045 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 22130713 23031635 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 22133356 24100132 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 22138554 22401936 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 22144001 22145500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 22145178 24086986 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 22154358 22155868 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22154358 22155868 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22154358 22155868 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2218493 2261756 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 22200000 22900000 Gain Acute myeloid leukemia BAC Array CGH 17237825 chr9 222100000 228800000 Copy number Kartagener syndrome reference 16639409 chr9 22211576 22211641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22211758 22211858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 222268 30116164 Gain and loss Esophageal adenocarcinoma BAC array 19417022 chr9 222268 38427295 Loss Barrett's syndrome BAC array 19417022 chr9 222268 6601726 Gain Prostate cancer Array CGH 18632612 chr9 222300 4407700 Gain Prostate cancer Array CGH 18632612 chr9 222308 12969539 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 222308 29250390 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 222308 6567805 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 22231296 26259317 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 22231296 38737064 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 22237156 22238156 Loss Chronic lymphocytic leukemia References 21215367 chr9 22239620 22239715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22282780 31089571 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 22288542 22288726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22288708 22288920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22291400 22291700 Gain Chordoma References 21215367 chr9 22293524 23838347 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 22375498 22376084 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22382260 22383260 Gain Renal cell carcinoma References 21215367 chr9 22383618 22385706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22386209 22389450 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 22395536 22395723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22395590 22395690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22407649 22847775 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr9 22417726 22579721 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 22436840 22442472 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 22436840 22442472 Gain and loss Pancreatic cancer SNP array 17952125 chr9 22436840 22442472 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 22436840 22442472 Loss Pancreatic cancer Affymetrix 100K SNP arrays 17952125 chr9 22439926 25667214 Deletion Normal Arbitrated Peel-off 21527027 chr9 22439926 25667214 Deletion Normal GeneGISTIC 21527027 chr9 22439926 25667214 Deletion Normal Standard peel-off 21527027 chr9 22441128 22441128 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 22444234 22477340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 22446840 22452472 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22446840 22452472 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22446840 22452472 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22475057 22475755 Deletion Non-syndromic sensorineural hearing loss BLAT 19036926 chr9 22476721 22492830 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 22477566 22508348 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 22479111 22505111 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 22479914 22496027 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 22484751 22489916 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 22484751 22489916 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 22484751 22491099 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 22484751 22491099 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 22484751 22492645 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 22484751 22492645 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 22486527 22494345 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 22486528 22494343 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22486611 22492632 Loss or gain Normal 244K array 17666407 chr9 22486650 22492645 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 22486650 22492645 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 22486650 22493635 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 22486650 22493635 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 22486650 22495719 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 22486650 22495719 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 22487140 22493635 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 22487140 22493635 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 22488043 22493635 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 22488043 22493635 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 22505738 22679203 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 22526437 22526537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22544091 22544181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22546722 22546822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22548608 22548708 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22584981 22585358 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 22587427 22587741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22592243 22613042 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 22639385 30644743 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr9 22643395 22643768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22656439 22656929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22680104 23680104 Deletion or amplification Glioblastoma multiforme - 21525872 chr9 22685593 23444474 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 22685593 24224310 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 22734319 22748233 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22734319 22748233 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22734319 22748233 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 22737699 22738227 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 22737699 22738227 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 22737754 22738233 Gain and loss Pancreatic cancer SNP array 17952125 chr9 22753488 22753588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2276271 2278064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22785727 36988416 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 22815468 22815568 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 228188 229188 Loss Cancer Human 24 color M-FISH 21215367 chr9 228188 229188 Loss Renal cell carcinoma References 21215367 chr9 22823087 22897484 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 22880450 70510800 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 22902094 23164592 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 2290544 2291544 Loss Renal cell carcinoma References 21215367 chr9 229226 9933540 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr9 2292894 3747374 LOH Normal High-resolution SNP genotyping 21211785 chr9 22930579 22931579 Gain Renal cell carcinoma References 21215367 chr9 22944299 22944399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22981732 22982241 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 22982134 22982234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 22984556 23064319 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 22989488 22989819 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 23031635 23554751 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 23065113 23065428 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 23104990 23105290 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 2314170 2314257 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23145010 23146010 Gain Renal cell carcinoma References 21215367 chr9 23189511 23218543 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 23245395 23246395 Loss Cancer Human 24 color M-FISH 21215367 chr9 23245395 23246395 Loss Renal cell carcinoma References 21215367 chr9 23298060 23298160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23314545 23314578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23318680 23319030 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 23324321 23324401 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23337187 23382654 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 23341771 23384610 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 23346113 23395339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 23349568 23363484 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 23351805 23363484 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 23351805 23368488 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 23351805 23380071 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 23351806 23368487 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr9 23352802 23367683 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 23352830 23367665 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 23352855 23367741 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 23352855 23367741 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 23352929 23366554 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 23352929 23366554 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 23352929 23367735 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 23352929 23367735 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 23353103 23363472 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 23353115 23363484 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 23353115 23363484 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 23353115 23363484 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 23353147 23368121 Loss or gain Normal 244K array 17666407 chr9 23353798 23366554 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 23353798 23366554 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 23353798 23367735 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 23353798 23367735 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 23360997 23362429 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 23361042 28277146 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-622K arrays 21546498 chr9 23393187 23393415 Loss Normal 244K array 17666407 chr9 23401162 23864047 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 23410137 25799071 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 23468883 23469883 Gain Renal cell carcinoma References 21215367 chr9 2351070 2351305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23511542 24044907 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 2351290 2351513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2351294 2351395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23548111 23593761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 23554751 23845371 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 23560656 23560745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23609310 23609395 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23622104 23622353 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 23662127 23662181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23671892 23672660 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 23672138 23672664 Gain and loss Pancreatic cancer SNP array 17952125 chr9 23680102 23816063 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 23680102 23816335 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 23680102 23816335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 23680105 23816335 Gain and loss Pancreatic cancer SNP array 17952125 chr9 23681895 23682796 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 23681895 23682796 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 23681895 23682796 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 23690102 23826063 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 23690102 23826063 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 23690102 23826063 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 23735590 23766451 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 23735590 23766624 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 23735590 23767151 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 23736465 23736547 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23738731 23738821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23752358 23752458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23773205 23773305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23796497 23817410 Deletion Normal Standard GISTIC 21527027 chr9 23810501 23812500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 23814832 23814932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 23817168 23838505 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 23845371 24252239 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 23865689 23996322 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 2393453 2393553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 239391 11611204 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 239391 1913359 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 239391 21948524 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 239391 385025 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 23941478 23941578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 24079819 24080239 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr9 24095780 25597500 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 24125051 24125151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 24135479 24140387 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 2415857 3241234 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 24190526 24191526 Loss Renal cell carcinoma References 21215367 chr9 24245420 130083358 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 24252239 24862541 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 2429938 2430938 Gain Chordoma References 21215367 chr9 24300000 25800000 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chr9 24326977 24327077 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 24327366 25799071 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 24337 25864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 24346419 24346736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 243594 362341 Gain Autism Illumina 550K(Glessner et al. 2009) 20531469 chr9 24394 25856 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 24407743 24408743 Gain Renal cell carcinoma References 21215367 chr9 24444945 24607036 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 24480866 24506126 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 24487884 24488818 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 24490531 24508990 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 24490531 24508990 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 24492067 24509098 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 24504390 24505111 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 24506875 24507875 Loss Renal cell carcinoma References 21215367 chr9 24518103 37947229 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 24527845 24528845 Loss Renal cell carcinoma References 21215367 chr9 24533227 24535944 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 2454035 3357700 Amplification Ovarian cancer Human 105 K oligonucleotide microarrays 22355333 chr9 24545972 24551323 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 24546000 25375000 Copy number Lung cancer GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr9 24618216 24618296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 24710232 138166210 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 24739214 24768100 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 24794163 24794253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 24805672 24806672 Gain Chordoma References 21215367 chr9 24862710 24862796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 24895467 24895733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 24895469 24895734 Gain and loss Pancreatic cancer SNP array 17952125 chr9 24895469 24895734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 24939254 24961815 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 2494810 2494910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 24968823 24987255 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 24969296 24993607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 25020830 25021790 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 2503178 2503278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25034721 25034821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25043325 27458065 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 25058453 25058753 Loss Renal cell carcinoma References 21215367 chr9 2506342 2507342 Gain Renal cell carcinoma References 21215367 chr9 25065077 25065176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25078817 25079149 Gain and loss Pancreatic cancer SNP array 17952125 chr9 25078826 25079149 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 25078912 25079149 Gain and loss Pancreatic cancer SNP array 17952125 chr9 25145054 25145116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 251855 267989 Gain Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr9 25193632 25194632 Loss Renal cell carcinoma References 21215367 chr9 25200249 25200349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25205201 25206128 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 25205201 25206128 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 25231082 25283304 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 25261892 25262892 Gain Cancer Human 24 color M-FISH 21215367 chr9 25261892 25262892 Gain Chordoma References 21215367 chr9 25264982 25265282 Loss Chordoma References 21215367 chr9 25268743 25269743 Gain Chordoma References 21215367 chr9 25280188 25771446 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 25292197 25425886 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 2529369 2529469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25302426 25302526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2535652 2622373 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2535652 2622373 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2535652 2622373 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 25357000 34957000 Loss low-grade B-cell lymphoma tumor Array CGH 18367492 chr9 25359010 25499545 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 25377682 25377782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25383679 25383779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25425786 27582822 Loss Barrett's syndrome BAC array 19417022 chr9 25425787 25573596 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 25440028 25440128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25491619 25491716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25499115 25500115 Gain Chordoma References 21215367 chr9 25500000 28100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 25500000 28100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 25500000 28100000 Loss Urothelial cell carcinoma FISH 18451213 chr9 25500000 32800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 25500000 32800000 Gain Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 118 samples 21899760 chr9 25500198 25501198 Loss Chordoma References 21215367 chr9 25520108 31017847 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 25530306 28924434 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 25530306 73334928 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 25584088 25584448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 25597500 26007060 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 25600802 25600945 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25613938 25614038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25667681 25668295 Gain and loss Pancreatic cancer SNP array 17952125 chr9 25667681 25668319 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 25667681 25668319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 25671523 25726011 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 25676387 25678856 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 25676387 25678856 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 25676387 25678856 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 25712880 25714802 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 257688 291547 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 25840571 25841571 Gain Renal cell carcinoma References 21215367 chr9 25849709 26938332 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 25879584 25880584 Loss Renal cell carcinoma References 21215367 chr9 2596748 2596848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 25968129 25968229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2597881 2863137 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 26000745 26000856 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 26007060 32532716 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 26008780 26008880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 26053746 26053846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 26056673 26108406 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 26056673 26108406 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 26056673 26108406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 26089466 26664986 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 26090806 26090906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2610547 2613694 Loss Maculopathy TaqMan real-time PCR 22355348 chr9 26114279 26114388 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 2611792 2644485 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 2611793 2644480 Deletion T-cell lymphomas Array-CGH 22341440 chr9 2611793 2644485 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 2611793 2644485 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 2611793 2644485 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 2611822 2644485 Gain and loss Pancreatic cancer SNP array 17952125 chr9 2612090 2629979 Gain and loss Pancreatic cancer SNP array 17952125 chr9 26181932 26184895 Deletion Normal Standard GISTIC 21527027 chr9 2621793 2654485 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2621793 2654485 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2621793 2654485 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 262459 262611 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 26246169 26415832 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr9 26255534 26415832 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 263048 455252 Gain and loss Pancreatic cancer SNP array 17952125 chr9 263048 455255 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 263048 455255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 263048 455255 Deletion T-cell lymphomas Array-CGH 22341440 chr9 263048 455255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 26307387 26307487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 26311650 26311750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 26315207 27315207 Deletion or amplification Glioblastoma multiforme - 21525872 chr9 26368791 26369791 Loss Renal cell carcinoma References 21215367 chr9 26413453 26414453 Loss Renal cell carcinoma References 21215367 chr9 26428852 28927008 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 26434552 26434652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2644653 2645653 Loss Renal cell carcinoma References 21215367 chr9 26462639 31389459 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 26482001 26483500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 26498004 26498304 Loss Renal cell carcinoma References 21215367 chr9 26502928 26503242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 26554790 32841656 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 chr9 2655769 29639063 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 26559013 26715260 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 26588636 26588707 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 26592437 26637117 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 26597669 26631966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 2662170 2693292 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 26668518 26669518 Loss Renal cell carcinoma References 21215367 chr9 26698668 26715702 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 26736172 26775805 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 26742486 26775973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 26754605 26754695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 26756213 26757213 Loss Renal cell carcinoma References 21215367 chr9 26830685 26882725 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 26830685 26882725 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 26830685 26882725 Gain and loss Pancreatic cancer SNP array 17952125 chr9 26830685 26882725 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 26840683 26892725 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26840683 26892725 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26840683 26892725 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26850358 27316904 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 26864075 26865075 Loss Renal cell carcinoma References 21215367 chr9 26870176 26870547 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 2687549 3292434 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 26885676 26885899 Gain and loss Pancreatic cancer SNP array 17952125 chr9 26885676 26885899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 26886145 26886231 Gain and loss Pancreatic cancer SNP array 17952125 chr9 26886145 26886231 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 26894518 26937263 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 26894518 26937263 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 26894518 26937461 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 26895339 26937461 Gain and loss Pancreatic cancer SNP array 17952125 chr9 26901168 26901244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 26903368 26947468 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26903368 26947468 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26903368 26947468 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26946410 27052802 Gain and loss Pancreatic cancer SNP array 17952125 chr9 26946410 27052923 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 26946410 27052923 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 26946410 27052923 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 26947037 27062931 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26947037 27062931 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26947037 27062931 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26983590 26995670 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 26983590 26995670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 26983590 26995670 Gain and loss Pancreatic cancer SNP array 17952125 chr9 26983590 26995670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 26993134 27005691 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26993134 27005691 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 26993134 27005691 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27004849 36340868 Deletion Cancer CGH 22183965 chr9 27004849 36340868 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 chr9 270055 1091607 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr9 27007011 68932418 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 27008020 27826571 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 27027372 27027472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2707526 2719757 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 2707526 2719757 Deletion T-cell lymphomas Array-CGH 22341440 chr9 2707526 2719757 Gain and loss Pancreatic cancer SNP array 17952125 chr9 2707526 2719757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27084647 27175101 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 27099146 27220172 Copy number Lung cancer - 20668451 chr9 27099146 27220172 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 27099146 27220172 Gain or loss Breast cancer - 20668451 chr9 27099146 27220172 Gain or loss Cancer - 20668451 chr9 27099146 27220172 Gain or loss Lung cancer - 20668451 chr9 27099146 27220172 Gain or loss Ovarian cancer - 20668451 chr9 27099146 27220172 Gain or loss Pancreas cancer - 20668451 chr9 27099146 27220172 Gain or loss Prostate cancer - 20668451 chr9 27099286 27220171 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 27099286 27220171 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 27099286 27220171 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27099441 27220171 Gain and loss Pancreatic cancer SNP array 17952125 chr9 27102620 27102664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27109147 27230172 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27109147 27230172 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27109147 27230172 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27124868 27239599 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 27132324 27133324 Gain Renal cell carcinoma References 21215367 chr9 27145677 27190455 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 2717526 2729757 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2717526 2729757 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2717526 2729757 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27183672 27183772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27188285 27188360 Gain and loss Pancreatic cancer SNP array 17952125 chr9 27188285 27188360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27188285 27188399 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 2719580 2720580 Gain Cancer Human 24 color M-FISH 21215367 chr9 2719580 2720580 Gain Renal cell carcinoma References 21215367 chr9 27210325 27210624 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27210325 27210624 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27210325 27210624 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27238725 27239725 Gain Cancer Human 24 color M-FISH 21215367 chr9 27238725 27239725 Gain Renal cell carcinoma References 21215367 chr9 27240863 27241863 Loss Renal cell carcinoma References 21215367 chr9 27245682 27282791 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27245682 27282791 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27245682 27282791 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27274667 27287137 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 27274667 27287137 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 27274667 27287137 Gain and loss Pancreatic cancer SNP array 17952125 chr9 27274667 27287137 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27284667 27297137 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27284667 27297137 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27284667 27297137 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 273048 465255 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 273048 465255 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 273048 465255 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27315207 27519850 Gain and loss Pancreatic cancer SNP array 17952125 chr9 27316780 27573468 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 27319129 27519850 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27325207 27529850 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27325207 27529850 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27325207 27529850 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27350365 27351365 Gain Renal cell carcinoma References 21215367 chr9 27391297 71463718 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chr9 27403989 27762199 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 27410862 27410921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 27412717 27412806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2742166 2742266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 274335 274428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27455144 27529926 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27455144 27529926 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27455144 27529926 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2746534 2746735 Deletion Breast cancer Illumina 1M duo array 20393555 chr9 27478057 27478143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27505220 27505320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27514302 27516491 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 27514302 27516491 Gain and loss Pancreatic cancer SNP array 17952125 chr9 27514302 27516491 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27515861 27516861 Gain Renal cell carcinoma References 21215367 chr9 27523290 27523390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27524312 27526496 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27524312 27526496 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27524312 27526496 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27526553 27527271 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 27536544 27563842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 27536544 27563842 Gain and loss Pancreatic cancer SNP array 17952125 chr9 27536544 27563842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27546544 27573842 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27546544 27573842 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27546544 27573842 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27550594 27794697 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 27562512 28858209 Deletion Normal Arbitrated Peel-off 21527027 chr9 27562512 28858209 Deletion Normal GeneGISTIC 21527027 chr9 27562512 28858209 Deletion Normal Standard peel-off 21527027 chr9 27584256 27584356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27598385 27600743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27608380 27656933 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27608380 27656933 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27608380 27656933 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27626665 27626752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27660193 27660277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27660556 27660619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 27660561 27660625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 27683205 27683305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27731361 27760007 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 27734756 27735756 Gain Renal cell carcinoma References 21215367 chr9 2773503 2774503 Gain Renal cell carcinoma References 21215367 chr9 27749490 27749590 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27758579 27759579 Loss Renal cell carcinoma References 21215367 chr9 27778197 27778307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 27794697 30908603 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 27825635 27826635 Loss Renal cell carcinoma References 21215367 chr9 27861680 27861780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27871644 27891735 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 27900278 27900378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27938076 28660283 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 27938076 28660283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 27938535 28660283 Gain and loss Pancreatic cancer SNP array 17952125 chr9 2794152 2834241 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 2794152 2834241 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 2794152 2834241 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 2794154 2834130 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 2794164 2828505 Deletion T-cell lymphomas Array-CGH 22341440 chr9 2794164 2834095 Gain and loss Pancreatic cancer SNP array 17952125 chr9 27948528 28719303 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27948528 28719303 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27948528 28719303 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 27976637 27976732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 27986356 27986449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28000000 33200000 Copy number Acute lymphoblastic leukemia PCR, 244K whole genome array, FISH 18838613 chr9 28000000 33200000 Loss Williams-beuren syndrome Affymetrix GeneChip Human Mapping NspI Array 18553513 chr9 28016684 28016723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28016836 28077579 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 28025209 28507137 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 28037359 28041062 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 28037359 28041062 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 28037588 28040691 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 2803926 2804001 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28039518 28040777 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 2804152 2844130 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2804152 2844130 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2804152 2844130 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28067560 28069206 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 28100000 32800000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 28100000 32800000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr9 28100000 32800000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 127 samples 21899760 chr9 28100000 32800000 Deletion Neuroblastoma Genechip Human Mapping 50K XbaI (22 samples) or Genechip Human Mapping 250K NspI 128 samples 21899760 chr9 28100000 32800000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 28100000 36300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 28104092 28104175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28127367 28127467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28134832 30212869 Deletion Myelodysplastic syndrome Genechip Mapping 50K Hind III array 18508791 chr9 28137501 28140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 28138209 28139198 Gain and loss Pancreatic cancer SNP array 17952125 chr9 28138209 28139228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 28138209 28139228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 28147886 28149234 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28147886 28149234 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28147886 28149234 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28166955 28374697 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-625K arrays 21546498 chr9 28175323 28175417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28177715 28346278 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 28181261 28338013 Loss Autism Exome sequencing and CGH 22495309 chr9 28227480 28227580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2826002 2827002 Gain Renal cell carcinoma References 21215367 chr9 28272910 28273008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28277146 28932478 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-623K arrays 21546498 chr9 28373207 28374207 Gain Renal cell carcinoma References 21215367 chr9 28380386 28380686 Loss Renal cell carcinoma References 21215367 chr9 28388842 28458336 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 28412185 28412259 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28439733 28902923 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 28443763 28489523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 28444555 28447652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 28462018 28840774 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 28470952 28471952 Loss Renal cell carcinoma References 21215367 chr9 28481404 28481504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28497002 28667724 Loss Williams Syndrome Affymetrix Human Mapping 500K SNP Array 20824207 chr9 28500000 140273252 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 28500000 140273252 Copy number Cancer ICA method 16751803 chr9 28517186 28798324 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr9 28517244 28517317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2852906 2853906 Loss Renal cell carcinoma References 21215367 chr9 28530696 28576037 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 28574920 28575011 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 28587314 28588314 Gain Renal cell carcinoma References 21215367 chr9 28588666 28589290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 2859316 2860316 Gain Renal cell carcinoma References 21215367 chr9 28595214 28596214 Gain Renal cell carcinoma References 21215367 chr9 28601730 29210805 LOH Normal High-resolution SNP genotyping 21211785 chr9 28619167 28653141 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 2865442 2866248 Gain and loss Pancreatic cancer SNP array 17952125 chr9 2865925 2866311 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 28667376 28700908 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 286692 6512004 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 28670841 28671841 Loss Renal cell carcinoma References 21215367 chr9 28675752 28876358 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-632K arrays 21546498 chr9 28696215 29173429 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 2870292 2870392 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 28709580 28738783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 28732392 28732486 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2875442 2876426 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2875442 2876426 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2875442 2876426 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28761537 29951049 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 28781181 28781281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 287878 400370 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 28830003 28837117 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 28836341 28838077 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 28836341 28838077 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 28838802 29193681 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 28853624 28853704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 28863624 28863704 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28863624 28863704 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28863624 28863704 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 288719 676170 Gain Autism qPCR 20531469 chr9 28878877 28878953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 28888877 28888953 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28888877 28888953 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 28888877 28888953 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2889327 2890804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 28920884 31022846 Duplication Cancer CGH 22183965 chr9 28920884 31022846 Duplication Melanoma Affymetrix SNP 6.0 array 22183965 chr9 28960532 28960602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2900240 2900846 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2900240 2900846 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2900240 2900846 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29054311 29055311 Loss Cancer Human 24 color M-FISH 21215367 chr9 29054311 29055311 Loss Renal cell carcinoma References 21215367 chr9 29077822 29097359 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 29078566 29099196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 29082459 29088063 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 29082459 29088063 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 29082575 29088014 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 29084549 29087680 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 29084549 29087680 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 29125948 29299828 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 29214320 29216365 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29214320 29216365 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29214320 29216365 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2922366 4437068 Gain Autism Bacterial artificial chromosome microarray,105K-feature whole-genome oligonucleotide microarray 20808228 chr9 2923001 2924500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 29244054 29244423 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 29245617 29245717 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 29246951 29247012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 29249550 29250750 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 29307860 29638921 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 29328598 29462046 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 29340896 29371516 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 29389206 30261809 Duplication Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 29390350 29390438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 29394373 29403193 Deletion Melanoma high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays 20688739 chr9 29402493 29402593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 29419040 29419340 Loss Renal cell carcinoma References 21215367 chr9 2943562 3053404 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2943562 3053404 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 2943562 3053404 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29452159 29453159 Loss Renal cell carcinoma References 21215367 chr9 2952298 2953298 Loss Renal cell carcinoma References 21215367 chr9 29560127 29561127 Gain Renal cell carcinoma References 21215367 chr9 29568922 29569922 Loss Renal cell carcinoma References 21215367 chr9 2956999 2968471 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 29585588 30759413 LOH Normal High-resolution SNP genotyping 21211785 chr9 29587633 30886835 LOH Normal High-resolution SNP genotyping 21211785 chr9 29595452 29596452 Gain Renal cell carcinoma References 21215367 chr9 296015 22639384 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chr9 296089 803671 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 29614692 29615012 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 29619486 29620486 Gain Renal cell carcinoma References 21215367 chr9 29626484 29626851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 29636433 29636858 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29636433 29636858 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29636433 29636858 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29641439 29641539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 29660189 29660489 Gain Renal cell carcinoma References 21215367 chr9 29691381 29692381 Loss Renal cell carcinoma References 21215367 chr9 29695281 29706655 Amplification Normal Affymetrix 385k Human Whole-Genome CGH array 18559357 chr9 29783790 29805766 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 29784954 30063518 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 29814756 29816709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 29814756 29816709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 29824741 29826503 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29824741 29826503 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29824741 29826503 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 29874301 30063518 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 29893974 30020820 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 29898278 29898378 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 29922801 29922891 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 29929173 31862062 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 29952414 29952509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 2996911 2997011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 29994923 29994992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 30000 21096626 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 30045893 75149423 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 30067592 30965250 LOH Normal High-resolution SNP genotyping 21211785 chr9 30067592 30967609 LOH Normal High-resolution SNP genotyping 21211785 chr9 3011587 3011676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 30142554 30179668 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 30168474 30168575 Gain and loss Pancreatic cancer SNP array 17952125 chr9 30168474 30168575 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30199650 30421507 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 30260414 33783156 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.9 20877625 chr9 30327953 30514025 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 30335777 30336094 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 30400866 30434956 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 30409942 30554597 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 30428790 30551803 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr9 30481285 30481596 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 30506 32815551 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 305185 137012035 Loss Renal cell carcinoma GeneChip Human Mapping 50K Hind Array 21668985 chr9 305185 20801210 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 30548885 30549563 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30556083 30557083 Loss Renal cell carcinoma References 21215367 chr9 30558583 30559468 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30558583 30559468 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30558583 30559468 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30621738 30621838 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 30653083 30653183 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 30660962 30661964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30660986 30661589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30670982 30672779 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30670982 30672779 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30670982 30672779 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30674298 30674423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 30677647 30783248 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 30679103 30680080 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 3068466 3068788 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 30688946 30690958 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30688946 30690958 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30688946 30690958 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30761095 30761197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30763419 30764107 Gain and loss Pancreatic cancer SNP array 17952125 chr9 30763419 30764107 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30764227 30764322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30773462 30774736 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30773462 30774736 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30773462 30774736 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30789958 30790579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 30789958 30790579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30789964 30790357 Gain and loss Pancreatic cancer SNP array 17952125 chr9 30799856 30800783 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30799856 30800783 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30799856 30800783 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30821807 30822247 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30821876 30822223 Gain and loss Pancreatic cancer SNP array 17952125 chr9 30831807 30832247 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30831807 30832247 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30831807 30832247 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30843208 30843308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 30847455 30847555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 30854032 31028881 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 30879485 30987350 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 30887462 30943009 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 30888436 30888501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 30889970 32506949 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 30898193 30899482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 30910 11831788 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 30910 138303776 Amplification T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 30910 139727 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 30910 20668602 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 30910 36989024 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 30910 3974195 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 30910 42937560 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 30910 5292749 Loss Developmental delay affymetrix genechip 500K/SNP 6.38 array 21147756 chr9 30924857 30925936 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30925483 30925961 Gain and loss Pancreatic cancer SNP array 17952125 chr9 30929344 30963839 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr9 30934371 30942428 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 30934585 30936003 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30934585 30936003 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30934585 30936003 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30947701 33392790 Deletion Cancer CGH 22183965 chr9 30947701 33392790 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 chr9 30956542 30969741 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 3095800 3095900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 30978083 30980570 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 30978599 31917398 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 30987881 30990574 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30987881 30990574 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30987881 30990574 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 30995741 32798727 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr9 31009111 31009360 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 310096 312352 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 31017692 70626869 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 31040147 31040247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31041747 31041821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 3104534 3105534 Loss Renal cell carcinoma References 21215367 chr9 31089571 31827466 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 31103620 31103720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31125732 31125832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31155616 31156978 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 31164228 31164328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31209905 31372431 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 31229843 31230052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 31243899 31244775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 31244043 31244258 Gain and loss Pancreatic cancer SNP array 17952125 chr9 31253144 31253244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31253793 31255041 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 31253793 31255041 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 31253793 31255041 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 31279501 31284300 Deletion Glioma mate-paired sequence 20126413 chr9 31281356 31282672 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 31281381 31282431 Copy number Alcoholism Illumina Human Hap678W-Quad BeadChip 21790672 chr9 31281381 31282431 Copy number Normal - 21790672 chr9 31318162 31318300 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31372450 31372550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31396950 31397050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31397747 31397847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31409390 72964375 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 31424342 31513416 Indels Normal Affymetrix and Illumina arrays 20811451 chr9 31485312 31485412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31495278 31495941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 31495944 31496613 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 31508212 31508511 Gain and loss Pancreatic cancer SNP array 17952125 chr9 31531213 31531310 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 31532901 32273311 LOH Normal High-resolution SNP genotyping 21211785 chr9 31634578 31635158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 31644643 31645578 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 31644643 31645578 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 31644643 31645578 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3171001 3172000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 31749826 32932226 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 3177859 21854552 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 31829915 32918849 LOH Normal High-resolution SNP genotyping 21211785 chr9 31884144 31958526 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 31898361 31899242 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 31970998 31996580 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 31973460 32604523 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 32034918 32055694 Loss Normal 244K array 17666407 chr9 32043079 32043146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32059823 32059981 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32059823 32059981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32080385 32080485 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32080536 32080703 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32080551 32080651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32088462 32088539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32092610 32092745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32092696 32092744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32094280 32124743 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 32101000 32432000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr9 3214649 3515983 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 3214649 3515983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 3214649 3515983 Deletion T-cell lymphomas Array-CGH 22341440 chr9 3214649 3515983 Gain and loss Pancreatic cancer SNP array 17952125 chr9 3214649 3515983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32178941 32179026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32194293 32194382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32206583 32426014 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 3224645 3525983 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3224645 3525983 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3224645 3525983 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32283556 32283638 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32283556 32283638 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32305154 32305380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 32323455 32324352 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32333193 32334430 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32333193 32334430 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32333193 32334430 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32374618 32440830 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32374618 32440834 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 32374618 32440834 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32384601 32450834 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32384601 32450834 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32384601 32450834 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32445300 32516322 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 32445300 32516322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32445705 32516322 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32455300 32526322 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32455300 32526322 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32455300 32526322 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32462433 68931767 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 32463679 32463888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32527939 32528175 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32527939 32528175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32530545 32542601 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 32530545 32542601 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32530545 32542601 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32537881 32538148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32538215 32538487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32540542 32552601 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32540542 32552601 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32540542 32552601 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32543187 32543801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32543522 32563182 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 32543523 32563182 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 32543523 32563182 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32543523 32563182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32546904 32547921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32551771 32553006 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32551771 32553006 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32551771 32553006 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32553523 32573182 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32553523 32573182 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32553523 32573182 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32556151 32557124 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32556194 32556979 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32564337 33777532 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 32577460 32577550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32583967 32584067 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32620097 32625577 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32620097 32625577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 3262095 3263095 Loss Renal cell carcinoma References 21215367 chr9 32629452 32635667 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32629452 32635667 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32629452 32635667 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32666066 32666518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32670632 32709391 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32670632 32709391 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32670632 32709391 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32677141 32677241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32698646 32698739 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32717067 32717520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32718457 32718557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32727064 32727462 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32727064 32727462 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32727064 32727462 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32754294 32754420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32773497 32777397 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32773497 32779197 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 32773497 32779197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32783497 32784585 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32783497 32784585 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32783497 32784585 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32783497 32789199 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32783497 32789199 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32783497 32789199 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32798728 33473893 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr9 32800000 36300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 32800000 36300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 32800000 36300000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 32800000 38000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 32810249 32810348 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32810249 32810360 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32814618 32814718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32819997 32820097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 32820411 32855667 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 32826573 32859593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32860467 38764311 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 32890625 32891148 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 32916049 32916448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32918849 36808210 LOH Normal High-resolution SNP genotyping 21211785 chr9 32924696 32941228 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 32935994 32937220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32939156 32972357 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 32945892 32947458 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32945892 32947458 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32945892 32947458 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32954489 32958868 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32954489 32958868 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32954489 32958868 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32962609 32991626 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 32962609 32991626 Gain and loss Pancreatic cancer SNP array 17952125 chr9 32962609 32991626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32969558 32970401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 32972608 33001626 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32972608 33001626 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32972608 33001626 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 32983273 33916496 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 32998556 32998863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 33009680 33010163 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33009800 33010117 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33015208 33029062 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 33015242 33029277 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33015242 33029277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33015288 33029905 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33019485 33020130 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33019485 33020130 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33019485 33020130 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33025209 33039062 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33025209 33039062 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33025209 33039062 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33031850 33075989 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33031850 33075989 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33032107 33032214 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33037169 33066657 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33040705 33040999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 33041850 33076714 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33041850 33076714 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33041850 33076714 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33061075 33061175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 33098663 33099663 Loss Renal cell carcinoma References 21215367 chr9 33099746 33099821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 33100642 33157236 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33100642 33157236 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33110539 33110639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 33110639 33167356 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33110639 33167356 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33110639 33167356 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33122727 33139709 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 33130397 33130497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 33164167 33164295 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33164167 33164295 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 3318550 3318595 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 33195136 33238756 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 33200000 102600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 33200000 36300000 Gain Malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr9 33200000 36300000 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chr9 33200000 36300000 Gain Pleural malignant mesothelioma 44K oligonucleotide array CGH 18160781 chr9 33200000 36300000 Gain Prostate cancer Oligonucleotide-Based ArrayCGH 17712417 chr9 33200000 41000000 Loss Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr9 33200000 43600000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr9 33201201 33205700 Deletion Glioma mate-paired sequence 20126413 chr9 33203071 33203929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 33208363 33238564 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33208363 33238564 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33230196 33238564 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33240196 33248565 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33240196 33248565 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33240196 33248565 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33241885 33242181 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 33244163 33254672 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33244163 33254737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33252469 33264761 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33252469 33264761 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33252469 33264761 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33254166 33271516 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 33255000 33271510 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33255000 33271510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33255000 33322656 Copy number Autism Illumina Humanhap300 Beadchips 19492091 chr9 33255000 33322656 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33264877 33281516 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33264877 33281516 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33264877 33281516 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33280510 33361154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33280510 33361154 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33280510 33361154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33290510 33371155 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33290510 33371155 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33290510 33371155 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3330 20811568 Copy numbercopy numberLOH Chronic myeloid leukemia SNP 6.0 Array 21384125 chr9 33317243 33327748 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 33342786 33342872 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33342788 33342868 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33342788 33342877 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33362501 33464000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 33374765 33392517 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33374765 33392517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33374948 33392517 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33375047 33375047 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 33384948 33402517 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33384948 33402517 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33384948 33402517 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33397652 33398652 Loss Renal cell carcinoma References 21215367 chr9 33413362 33414654 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 33431161 33437590 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33431161 33437590 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33431162 33437594 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33441158 33447590 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33441158 33447590 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33441158 33447590 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33451354 33463941 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33451354 33463941 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33451354 33463941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33461351 33473941 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33461351 33473941 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33461351 33473941 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33464001 33477000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 33493000 33514000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 33493653 33500709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33493827 33499231 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33499507 33511047 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33499507 33511047 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33499507 33511047 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33509194 33569887 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 33511001 33513500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 33513501 33515000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 33514000 33569000 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 33514213 33565593 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33514392 33562999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33514488 33592609 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33523927 33572358 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33523927 33572358 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33523927 33572358 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3354329 3354784 Gain and loss Pancreatic cancer SNP array 17952125 chr9 3354329 3356737 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 3354329 3356737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33563377 33564188 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 33563501 33566000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 33564356 33564633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33566001 33587000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 33566378 33567012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33572428 33574633 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33572428 33574633 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33572428 33574633 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33587001 33591500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 33593729 34155354 LOH Normal High-resolution SNP genotyping 21211785 chr9 33594178 33594590 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 33602220 33604263 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33602220 33604263 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33602220 33604263 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33603846 33604007 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33607801 33608504 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33607801 33608504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33614217 33615358 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33614223 33615532 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33614272 33615291 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33617203 33617303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 33617843 33618506 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33617843 33618506 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33617843 33618506 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33619138 33619587 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33619138 33619587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33619153 33619587 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33623851 33624348 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33623851 33628516 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33624223 33625532 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33624223 33625532 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33624223 33625532 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33628035 33628519 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33628035 33628519 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33629141 33629586 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33629141 33629586 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33629141 33629586 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33633851 33634300 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33633851 33634300 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33633851 33634300 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33638035 33638506 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33638035 33638506 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33638035 33638506 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33639098 33652705 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33639129 33652705 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33646498 33646965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33646612 33646682 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33646612 33646682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33646703 33646965 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33647639 33647707 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33647639 33647707 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33649129 33649611 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33649129 33649611 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33649129 33649611 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33662201 33662662 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33662201 33662662 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33662201 33662662 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33665438 33666649 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33665438 33666649 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33673502 33677418 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33673502 33677418 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33673502 33677418 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33682268 33682721 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33682268 33682721 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33682268 33682721 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33685709 33686125 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33695578 33696059 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33695578 33696059 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33695578 33696059 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33697437 33698535 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 33740515 33789228 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33740515 33789228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33740515 33789228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33740515 33789230 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33750515 33799229 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33750515 33799229 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33750515 33799229 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33776526 33776826 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33785558 33789229 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 33785559 33789228 Deletion T-cell lymphomas Array-CGH 22341440 chr9 33786219 33786826 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33786219 33786826 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33786219 33786826 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33789560 33790560 Gain Renal cell carcinoma References 21215367 chr9 33790010 33790388 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33790367 33790796 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33800000 36200000 Amplification Gastric cancer Agilent Human 13K cDNA microarrays 18160780 chr9 33807182 33910401 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33807182 33910401 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33807182 33910401 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33807326 33907984 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33817182 33920401 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33817182 33920401 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33817182 33920401 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33820976 33821072 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33820976 33821075 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33820976 33821077 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33858537 33858665 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33858537 33858665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33911690 34038947 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 33911691 34038947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 33911691 34038947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 33911691 34038947 Gain and loss Pancreatic cancer SNP array 17952125 chr9 33911691 34038947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33921691 34048947 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33921691 34048947 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33921691 34048947 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33931822 34247975 Loss Ewing's sarcoma Human Genome CGH 44k microarrays 17952124 chr9 33934286 33934378 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33934286 33934378 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33934286 33934378 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33952762 33952852 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33952762 33952852 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33952762 33952852 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 33958075 33958516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 33978777 33978872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 33988506 33988606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 34018264 34018318 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34018264 34018318 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34018264 34018318 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34026128 34242520 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34037775 34080440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 34039964 34040212 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34039964 34040212 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34039964 34040242 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34041683 34792661 LOH Normal High-resolution SNP genotyping 21211785 chr9 34076385 34116736 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 34076386 34116736 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34076386 34124183 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34076386 34124183 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34076386 34124183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34079212 34079445 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 34086382 34126755 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34086382 34126755 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34086382 34126755 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34099199 34099966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34123299 34124598 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34132457 34134697 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34132457 34134697 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34132457 34134697 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34149702 34150085 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 34149864 34150118 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 34159687 34159934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34169003 34242520 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34169011 34242520 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34169011 34242520 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34179011 34252521 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34179011 34252521 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34179011 34252521 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34181576 34181833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34184810 34184905 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34184812 34184905 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34184814 34184905 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34185642 34185883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34191271 34191513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34191517 34191890 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34191517 34191890 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34191517 34191890 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34196155 34196239 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34196155 34196239 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34213982 34214626 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34223929 34224649 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34223929 34224649 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34223929 34224649 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34242379 34249706 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34242379 34301344 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34242379 34319198 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34242379 34319198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34252378 34329198 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34252378 34329198 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34252378 34329198 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34260823 34260920 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34260823 34260920 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34272517 34272701 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34272517 34272701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34272520 34272676 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34300718 34301236 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34301650 34301806 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 34308405 34309653 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34318264 34320329 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34318264 34320329 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34318264 34320329 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34319504 34333696 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34319504 34333709 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34319504 34333709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34319504 34333709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34329504 34343696 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34329504 34343696 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34329504 34343696 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34338590 38193650 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 34358906 34366894 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 34358907 34366894 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34358907 34366894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34358908 34366863 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34358915 34366863 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34366001 34371000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 34368907 34376894 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34368907 34376894 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34368907 34376894 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34369016 34387849 Copy number Normal - 20680643 chr9 34369017 34387849 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34369017 34387849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34369017 34387849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34369020 34387849 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34371001 34491500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 34379017 34397849 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34379017 34397849 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34379017 34397849 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34379941 34380049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34379943 34380049 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34388182 34448568 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34388182 34448568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34388182 34448568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34388183 34448568 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34389388 35044684 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 34398182 34458568 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34398182 34458568 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34398182 34458568 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34405850 34405934 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 34407750 34723528 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 3442305 3459181 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 3442305 3459181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34448810 34510982 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 34448811 34510981 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34448811 34510981 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34448811 34510981 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34448811 34510981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34458811 34520982 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34458811 34520982 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34458811 34520982 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34468621 34468801 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34468621 34468801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34491501 34539500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 34511042 34513037 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34511042 34513037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34511042 34513037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34511285 34511693 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34521040 34523037 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34521040 34523037 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34521040 34523037 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34536526 34536994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34539501 34548500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 34539820 34539874 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 34541430 34579722 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 34541432 34579722 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34541432 34579722 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34541432 34579722 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34541432 34579722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34548501 34656500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 34551430 34559353 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34551430 34559353 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34551430 34559353 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34551431 34589722 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34551431 34589722 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34551431 34589722 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34564312 35462139 LOH Normal High-resolution SNP genotyping 21211785 chr9 3456500 3456572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34568010 34583069 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34568010 34583069 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34568010 34583069 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34576112 34576146 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 3460000 5680000 Deletion T-cell prolymphocytic leukemia Affymetrix GeneChip 50K SNP XbaI mapping array 17713554 chr9 34600492 34602110 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34600493 34602101 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34600493 34602101 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34600493 34602101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34603549 34610496 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34603549 34610496 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34603549 34610496 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34603549 34610515 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34610492 34612101 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34610492 34612101 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34610492 34612101 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34611455 34618011 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34611455 34618011 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34611455 34618011 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34613548 34620496 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34613548 34620496 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34613548 34620496 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34621455 34628011 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34621455 34628011 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34621455 34628011 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34621670 34621715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 34624717 34627806 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34624717 34627806 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34624719 34627768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34624719 34627768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34628803 34638138 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34628803 34638138 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34628803 34638138 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34634719 34637768 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34634719 34637768 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34634719 34637768 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34636635 34640571 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34636635 34640571 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34636635 34640571 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34636635 34640571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34640699 34651883 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34643932 34651883 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34643932 34651883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34643932 34651883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34646635 34650574 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34646635 34650574 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34646635 34650574 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34651894 34652689 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34651894 34652689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34651894 34656026 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34652182 34661884 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34652182 34661884 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34652182 34661884 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34655027 34656025 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34655027 34656025 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34656501 35107500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 34661893 34662689 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34661893 34662689 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34661893 34662689 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34662956 34663056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 34664772 34666038 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34664772 34666038 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34664772 34666038 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34679505 34679601 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34679506 34679582 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34679564 34681274 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34679564 34681274 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34679564 34681274 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34679567 34681274 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34689567 34691274 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34689567 34691274 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34689567 34691274 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3469753 3471485 Gain and loss Pancreatic cancer SNP array 17952125 chr9 3469874 3471229 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34699002 34700147 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34699002 34700147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34699002 34700147 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34699002 34700147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34703727 34703920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 34709002 34710147 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34709002 34710147 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34709002 34710147 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34713229 34716273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34716490 34719424 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34716490 34719480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34719794 34735496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 34723050 34729535 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34723050 34729535 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34723050 34729535 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34809395 34893045 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34809395 34893045 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34809395 34893045 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34820265 34828528 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34820265 34828528 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34820265 34828528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34820901 34828494 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34820901 34828494 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34820901 34828494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34830264 34838583 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34830264 34838583 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34830264 34838583 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34879391 34885719 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34879391 34885775 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34879484 34885719 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34889061 34895775 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34889061 34895775 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34889061 34895775 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34907172 34908293 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34907172 34908293 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34912190 34912921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34917072 34918387 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34917072 34918387 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34917072 34918387 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34921184 34923016 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34921184 34923016 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34921184 34923016 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34948192 34972541 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34948192 34972541 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34948192 34972541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34958192 34982541 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34958192 34982541 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34958192 34982541 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34962439 34962539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 34968017 35126146 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 34974487 35005046 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 34979742 34988428 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 34979742 34988428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 34979742 34988428 Gain and loss Pancreatic cancer SNP array 17952125 chr9 34979742 34988428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 34989725 34998428 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34989725 34998428 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 34989725 34998428 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35000683 35001361 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35010696 35011269 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35010696 35011269 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35010696 35011269 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35014143 35035987 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35014143 35035987 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35014143 35035987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35032226 35035987 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35032390 35032824 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35039268 35039558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35039268 35039560 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35039268 35039560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35041102 35045988 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35041102 35045988 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35041102 35045988 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35044684 35454244 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 35046064 35062739 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 35046561 35070013 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35046561 35077552 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35046904 35062598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35056065 35072739 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35056065 35072739 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35056065 35072739 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35063834 35070013 Copy number Lung cancer - 20668451 chr9 35063834 35070013 Gain or loss Breast cancer - 20668451 chr9 35063834 35070013 Gain or loss Cancer - 20668451 chr9 35063834 35070013 Gain or loss Lung cancer - 20668451 chr9 35063834 35070013 Gain or loss Ovarian cancer - 20668451 chr9 35063834 35070013 Gain or loss Pancreas cancer - 20668451 chr9 35063834 35070013 Gain or loss Prostate cancer - 20668451 chr9 35063835 35070013 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35063837 35070013 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35063837 35070013 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35064104 35069521 Amplification or deletion Cancer Array CGH 17440070 chr9 35065109 35879731 LOH Normal High-resolution SNP genotyping 21211785 chr9 35073835 35080013 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35073835 35080013 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35073835 35080013 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35078685 35086579 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35078685 35086579 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35078685 35086579 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35078690 35086579 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35088688 35096579 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35088688 35096579 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35088688 35096579 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35089593 35093113 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35089891 35093154 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35089891 35093154 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35089891 35093154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 3509137 3509237 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35094109 35105893 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35094109 35105893 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35094109 35105893 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35094109 35105893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35099893 35103154 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35099893 35103154 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35099893 35103154 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35104118 35115893 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35104118 35115893 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35104118 35115893 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35110680 35217542 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35137386 35139169 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35137398 35139181 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35137398 35139181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35147380 35149181 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35147380 35149181 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35147380 35149181 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35151989 35395331 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35151989 35395331 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35151989 35395331 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35152055 35395331 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35161989 35405332 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35161989 35405332 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35161989 35405332 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 351747 361827 Loss Normal 244K array 17666407 chr9 35215390 35849977 Gain and loss Pancreatic cancer SNP array 17952125 chr9 3525377 3525447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 352854 352954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35342347 35342447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35351056 35351262 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35351108 35351310 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 35354130 35354308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 35396752 35473026 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35396765 35473026 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35396765 35473026 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35396786 35441103 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35400954 35401036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 3540511 7253702 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 35406752 35483026 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35406752 35483026 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35406752 35483026 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35439745 35440349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35447431 35447504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35463808 35463893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35475903 35476158 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35480124 35551889 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35480124 35551889 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35480124 35551889 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35480124 35551889 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35490007 35561895 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35490007 35561895 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35490007 35561895 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35491892 35541633 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 35497561 35497870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35507531 35507928 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35507531 35507928 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35507531 35507928 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35536001 35908000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 35551946 35553896 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35551946 35553896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35552004 35553825 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35561946 35563896 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35561946 35563896 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35561946 35563896 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35582783 35582948 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35592753 35593041 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35592753 35593041 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35592753 35593041 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35595280 35600038 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 35595281 35600037 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35595281 35600037 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35595281 35600037 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35595281 35600037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35599530 35609539 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35599530 35609539 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35599530 35609539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35599976 35608408 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35605281 35610038 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35605281 35610038 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35605281 35610038 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35609976 35618424 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35609976 35618424 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35609976 35618424 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35616588 35617542 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35616588 35617542 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35616588 35617542 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35639300 35640947 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35639300 35640947 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35639300 35640947 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35639300 35640947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35646267 35647473 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35646267 35647473 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35646267 35647473 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35647750 35648014 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35647751 35648014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35647766 35648001 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35648301 35651400 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35648301 35651400 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35648303 35651184 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35648310 35651184 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 35648874 35655284 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35649295 35650947 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35649295 35650947 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35649295 35650947 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35649340 35655278 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 35649341 35659610 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35649341 35659610 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35649341 35659610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35656749 35690669 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 35657750 35658014 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35657750 35658014 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35657750 35658014 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35658311 35661184 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35658311 35661184 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35658311 35661184 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35659341 35665278 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35659341 35665278 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35659341 35665278 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35661773 35662039 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35661773 35662041 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35661773 35662041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35663853 35671147 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35663853 35671147 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35663853 35671147 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35663853 35671147 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35663914 35671154 Amplification Lung cancer Bayesian Detection of Shared Aberrations for aCGH 21512611 chr9 35671990 35680053 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35671990 35680053 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35671990 35680053 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35671990 35680053 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35672922 35680053 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 35673915 35681156 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35673915 35681156 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35673915 35681156 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35681990 35690053 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35681990 35690053 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35681990 35690053 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35687333 35722128 Gain or loss Breast cancer - 20668451 chr9 35687333 35722128 Gain or loss Cancer - 20668451 chr9 35687333 35722128 Gain or loss Lung cancer - 20668451 chr9 35687333 35722128 Gain or loss Ovarian cancer - 20668451 chr9 35687333 35722128 Gain or loss Pancreas cancer - 20668451 chr9 35687333 35722128 Gain or loss Prostate cancer - 20668451 chr9 35687333 35722128 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 35687336 35722369 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35687336 35722369 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35687336 35722369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35687338 35722367 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35687839 35687939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35697334 35732392 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35697334 35732392 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35697334 35732392 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35712849 35713826 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 35722316 35727005 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 35722317 35727004 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35722317 35727004 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35722317 35727004 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35722317 35727004 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35726862 35739225 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 35726864 35739225 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35726864 35739225 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35726864 35739225 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35726864 35739225 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35732317 35737005 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35732317 35737005 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35732317 35737005 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35736863 35749225 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35736863 35749225 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35736863 35749225 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35739340 35747908 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35739340 35747908 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35739340 35747908 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35739340 35747908 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35742990 35744278 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35742990 35744278 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35742990 35744278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35749203 35752871 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35749203 35752871 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35749203 35752871 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35752991 35754272 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35752991 35754272 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35752991 35754272 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35782151 35799729 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35782151 35799729 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35782151 35799729 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35782151 35799729 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35792406 35809728 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35792406 35809728 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35792406 35809728 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35793097 35793399 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 35797782 35802259 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35797782 35802259 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35797782 35802259 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35797782 35802259 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35802956 35805042 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 35802957 35805042 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35802957 35805042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35802957 35805042 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35802957 35805042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35804448 35844844 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35804448 35844844 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35804448 35844844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35807782 35812259 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35807782 35812259 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35807782 35812259 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35808427 35818744 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35808427 35818744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35808427 35818744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35811797 36388245 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 35812957 35815042 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35812957 35815042 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35812957 35815042 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35818429 35828744 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35818429 35828744 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35818429 35828744 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35818706 35818806 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35819266 35837231 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35829222 35854844 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35829222 35854844 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35829222 35854844 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35849059 35849980 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35850293 35852326 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35857879 35870398 Loss Normal Quantitative PCR 18989455 chr9 35858363 35865515 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35858363 35865515 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35858363 35865515 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35859022 35859977 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35859022 35859977 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35859022 35859977 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35859260 35860598 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35859260 35860598 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35859260 35860598 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35859460 35860398 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35860271 35865515 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35860271 35865515 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35860271 35865515 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35864807 35865191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35869460 35870398 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35869460 35870398 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35869460 35870398 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35874807 35875191 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35874807 35875191 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35874807 35875191 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35896189 35897138 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35896189 35897138 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35896189 35897138 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35906189 35907138 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35906189 35907138 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35906189 35907138 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35909480 35911617 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35909480 35911617 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35909480 35911617 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35930762 35930862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35933207 35933931 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35933207 35933931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35943090 35943931 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35943090 35943931 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35943090 35943931 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35947105 35948151 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 35947105 35948151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35947136 35948095 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35947136 35948095 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35957105 35958151 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35957105 35958151 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35957105 35958151 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35958304 35958403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35961341 35962315 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35961341 35962315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35970780 35972060 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 35970788 35971991 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 35970941 35972454 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35970941 35972454 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35970941 35972454 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35971122 35971678 Loss Normal 244K array 17666407 chr9 35974360 35978828 Loss Normal 244K array 17666407 chr9 35978083 35978179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 35981333 35993864 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 35981333 35993864 Gain and loss Pancreatic cancer SNP array 17952125 chr9 35981333 35993864 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 35989407 35991876 Loss Normal 244K array 17666407 chr9 35991336 35992282 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35991336 35992282 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35991336 35992282 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 35998970 35999033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 36002909 36003864 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36002909 36003864 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36002909 36003864 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36003181 36004130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36011689 36012110 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36013081 36014227 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36013081 36014227 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36013081 36014227 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36021608 36022212 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36021608 36022212 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36021608 36022212 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36026906 36114448 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 36026906 36114448 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36026906 36114448 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36026906 36114448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36036910 36124452 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36036910 36124452 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36036910 36124452 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36065283 36065383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 3606848 3606948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36090483 36098036 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr9 36126032 36153901 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 36126032 36153901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36126032 36153901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36126732 36153901 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36126741 36153903 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 36126741 36153903 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 36136742 36163903 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36136742 36163903 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36136742 36163903 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36159391 36161320 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 36159391 36161320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36159391 36161320 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36159391 36161320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36169389 36171331 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36169389 36171331 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36169389 36171331 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36180891 36294778 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 36180892 36202055 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 36180892 36202055 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36180892 36202055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36180934 36202055 Gain and loss Pancreatic cancer SNP array 17952125 chr9 3618219 16492685 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 36190892 36212056 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36190892 36212056 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36190892 36212056 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36204430 36248450 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 36204430 36248450 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36204430 36248450 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36204441 36248401 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36214438 36277041 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36214438 36277041 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36214438 36277041 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36257780 36257846 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36257780 36257919 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36257780 36257919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36264525 36264591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36293496 36294921 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36293496 36294921 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36293590 36294921 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36299280 36299600 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 36300000 38000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 36300000 38000000 Deletion Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr9 36300000 38000000 Deletion Normal - 22101487 chr9 36300000 38000000 Loss Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chr9 36300000 38000000 Loss Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K NspI,Genome-Wide Human SNP 6.0 array 20534699 chr9 36300000 38400000 Deletion Acute lymphoblastic leukemia Affymetrix SNP arrays (50k Hind and Xba, and 250 Sty) 19100363 chr9 36300000 38400000 Deletion Acute lymphoblastic leukemia human 500K SNP arrays 18768390 chr9 36300000 38400000 Loss Mantle cell lymphoma Array CGH 19029149 chr9 36300000 40200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 36300000 40200000 Deletion Biliary cancer Array CGH 19435499 chr9 36303494 36304921 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36303494 36304921 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36303494 36304921 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36316805 36316900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36326393 36390296 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36326398 36391195 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 36326401 36391195 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 36326401 36391195 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36326401 36391195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36331805 36331864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 36331807 36331864 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 36336397 36401195 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36336397 36401195 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36336397 36401195 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36351001 36355700 Deletion Glioma mate-paired sequence 20126413 chr9 36352611 36353818 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 36352881 36354079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 36353014 36353550 Loss Normal 244K array 17666407 chr9 36353448 36353507 Loss Recurrent pregnancy loss Agilent 105K oligonucleotide array-CGH 19789632 chr9 36365710 37139941 Deletion Cancer Affymetrix 250K Sty array 20164920 chr9 36389225 36396118 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 36410487 36410631 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36410487 36410631 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36410487 36410631 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36413655 36413970 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 364147 6285158 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-629K arrays 21546498 chr9 36431 8875169 Loss Developmental delay affymetrix genechip 500K/SNP 6.39 array 21147756 chr9 3648001 3649500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 36513615 36513713 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36562873 36667678 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 36562873 36667678 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36562873 36667678 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36562873 36667678 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36572905 36677679 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36572905 36677679 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36572905 36677679 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36587 178421 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 36587 367306 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 36623561 37942751 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 36650247 36694971 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 36710705 36710796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36713501 37014500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 36720017 36886648 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 chr9 36746683 36746751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36799096 36846268 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 36822802 36866605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 36828530 37024476 Copy number Acute lymphoblastic leukemia Affymetrix Genome-Wide Human SNP Array 6.0 21680795 chr9 36828530 37024476 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chr9 36828530 37024476 Deletion Acute lymphoblastic leukemia 250k Sty and Nsp SNP arrays 19129520 chr9 36828530 37024476 Deletion Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 36828530 37024476 Gain or loss Breast cancer - 20668451 chr9 36828530 37024476 Gain or loss Cancer - 20668451 chr9 36828530 37024476 Gain or loss Lung cancer - 20668451 chr9 36828530 37024476 Gain or loss Ovarian cancer - 20668451 chr9 36828530 37024476 Gain or loss Pancreas cancer - 20668451 chr9 36828530 37024476 Gain or loss Prostate cancer - 20668451 chr9 36828537 37024476 Gain and loss Pancreatic cancer SNP array 17952125 chr9 36828539 37024476 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 36828539 37024476 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 36828539 37024476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 36830168 37024038 Amplification or deletion Cancer Array CGH 17440070 chr9 36837252 36837336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36838531 37034476 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36838531 37034476 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36838531 37034476 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 36843886 36843960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36848661 36848761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36868774 36922342 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 36886881 36886981 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36901063 36901143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 36905243 37265174 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 36997782 36997851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37004785 37004880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37014501 37028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 3702501 3704500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 37036063 37038870 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37036063 37038870 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37036063 37038870 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37036832 37037234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37036919 37037239 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37045109 37106493 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 37046832 37047239 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37046832 37047239 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37046832 37047239 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37070630 37103286 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 37078810 37079773 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37078810 37079773 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37078810 37079773 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37106382 37106421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37110469 37348143 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37110469 37348143 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37110512 37348143 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37120469 37358146 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37120469 37358146 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37120469 37358146 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37122116 37303083 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 37131508 37382087 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 37150134 37150232 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37150134 37150234 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37150135 37150232 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37191741 37201797 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 37195109 37195365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 372233 385277 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 3723501 3724500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 37238793 37249024 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 3724688 3724788 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 37286020 37286101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37289525 37289624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37305791 37305868 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 37312256 37312366 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37312256 37312368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37332670 37365362 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 37344769 37344869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37399001 37424500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 37412663 37426986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37412663 37426986 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37412663 37426986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37422707 37436986 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37422707 37436986 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37422707 37436986 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37424109 37424577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37428111 37455396 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37428111 37455396 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37428111 37455396 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37438099 37465407 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37438099 37465407 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37438099 37465407 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37464027 37464121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37467146 37468314 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37467146 37468314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37475300 37488763 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 37475932 37493693 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37475945 37493693 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37475945 37493693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37477127 37478422 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37477127 37478422 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37477127 37478422 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37477667 38303379 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 37480418 37480890 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37480418 37480890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37485945 37503693 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37485945 37503693 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37485945 37503693 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37488763 37489013 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 37489013 37494703 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 37490386 37490930 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37490386 37490930 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37490386 37490930 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37494703 37495793 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 37495793 37503134 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 37500888 37578929 Copy number Lung cancer - 20668451 chr9 37500888 37578929 Gain or loss Breast cancer - 20668451 chr9 37500888 37578929 Gain or loss Cancer - 20668451 chr9 37500888 37578929 Gain or loss Lung cancer - 20668451 chr9 37500888 37578929 Gain or loss Ovarian cancer - 20668451 chr9 37500888 37578929 Gain or loss Pancreas cancer - 20668451 chr9 37500888 37578929 Gain or loss Prostate cancer - 20668451 chr9 37500899 37566250 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37500899 37566250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37503134 37504032 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 37504032 37505711 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 37507161 37589771 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 37510889 37576250 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37510889 37576250 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37510889 37576250 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37521903 37566249 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37574352 37574452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37578410 37582594 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37578410 37582594 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37578417 38059249 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37578417 38059249 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37578421 37582529 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37588410 37592636 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37588410 37592636 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37588410 37592636 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37596134 37596344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37625501 37627000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 37626685 37627290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37626934 37627092 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37636685 37637290 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37636685 37637290 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37636685 37637290 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37641052 37736901 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37641052 37736901 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37641052 37736901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37651052 37746901 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37651052 37746901 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37651052 37746901 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37651725 37652046 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37651744 37652046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37651809 37652046 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37655198 37655298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 3768501 3772400 Deletion Glioma mate-paired sequence 20126413 chr9 3770617 3770942 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 37716660 37716760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37723668 37725140 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 37743802 37768504 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37743802 37768969 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37743802 37768969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37753802 37778969 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37753802 37778969 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37753802 37778969 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37770308 37775065 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37770308 37775067 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37770308 37775067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37779026 37779736 Loss Normal 244K array 17666407 chr9 37780308 37785067 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37780308 37785067 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37780308 37785067 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37790790 37857663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37791296 37853322 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37800790 37867666 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37800790 37867666 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37800790 37867666 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37825659 37826391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37835818 37836396 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37835818 37836396 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37835818 37836396 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37838840 37838906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37868106 37869490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37869040 38062699 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 37875681 37876387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37875681 37876613 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37877572 37904350 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37877572 37904350 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37877572 37904350 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37877601 37894130 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 37877601 37894130 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 37877654 37878547 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37878058 37912432 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37878058 37912432 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37878058 37912432 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37885679 37887570 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37885679 37887570 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37885679 37887570 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37893501 38066000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 37909614 38058901 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37915895 38069210 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37915895 38069210 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37915895 38069210 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 37922571 37922671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37926704 37926766 Gain and loss Pancreatic cancer SNP array 17952125 chr9 37952767 37952844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37972776 37972846 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 37988042 37988135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38000000 40200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 38000000 46700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 38017644 38303379 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 38025526 38025626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38066001 38477000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 38074481 39768632 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 38084085 38301919 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 38128945 38129019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38135875 38135953 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38137424 38137559 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38137425 38137558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38137425 38137559 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38138150 38138250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 3814127 4290035 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 3814128 4290035 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 3814128 4290035 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 3814128 4290035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 3815255 4142183 Gain and loss Pancreatic cancer SNP array 17952125 chr9 3817677 4142183 Deletion T-cell lymphomas Array-CGH 22341440 chr9 38177267 38177367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38180404 38180502 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38180404 38180502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38224688 38258687 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 38229730 38264818 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 38234344 38234444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 3824128 4300035 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3824128 4300035 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3824128 4300035 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38261089 119714054 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chr9 38261089 119714054 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr9 38269660 38269729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38288000 39006000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr9 38317914 39138524 Copy number Lung cancer paired-end sequencing 18438408 chr9 38335482 38335556 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38382702 38388655 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 38382702 38388655 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38382702 38388655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38392244 38392316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38392702 38398658 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38392702 38398658 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38392702 38398658 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38396526 38414421 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38398991 38414444 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 38398991 38414444 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38408991 38424444 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38408991 38424444 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38408991 38424444 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38411317 38411417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38412124 70235619 Deletion Normal Arbitrated Peel-off 21527027 chr9 38412124 70235619 Deletion Normal GeneGISTIC 21527027 chr9 38412124 70235619 Deletion Normal Standard peel-off 21527027 chr9 38412795 38446109 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 38429042 38761831 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 38442786 38444067 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38452779 38453503 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38452779 38453503 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38452779 38453503 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38453817 38479347 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38453817 38479347 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38453817 38479347 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38461174 38497218 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 38468468 38469347 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38468471 38469347 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38476211 38488481 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 38476856 38478335 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38477001 38479500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 38486674 38505122 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38486674 38505122 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38486674 38505122 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38494444 38495479 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38504066 38507129 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 3851333 3851633 Loss Chordoma References 21215367 chr9 38516663 38518800 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 38516663 38518800 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38527094 38527909 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38527094 38527909 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38527094 38527909 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38530566 38610305 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38532501 38536500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 38533250 38610657 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38541591 38544705 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38541591 38544705 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38541591 38544705 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38557168 38736668 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38557168 40155117 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38557168 40388570 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38557168 44769175 Complex Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr9 38557374 38558208 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38558001 38561000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 38559157 38570034 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 38564430 38598184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 38567501 38620950 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38567501 38620950 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38567501 38620950 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38610001 38612500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 38611084 38613275 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 38611085 38614986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 38611085 38614986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38612224 70225195 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr9 38621085 38623281 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38621085 38623281 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38621085 38623281 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38621637 38623273 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38621637 38623273 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38621637 38623273 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38633039 38633765 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38634661 38791196 Deletion Intellectual disability Array CGH 22102821 chr9 38643042 38643821 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38643042 38643821 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38643042 38643821 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38643813 38645084 Duplication small cell lung cancer array-CGH 20016488 chr9 38670003 38670101 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38670003 38670101 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 38694767 38694857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38704188 38883075 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 39036984 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 39036984 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 39177642 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 39177642 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 39638349 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 40155117 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 40155117 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 40388570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 40388570 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 41507122 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 41639786 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 41784440 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 42118524 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 42118524 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38704188 44769175 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38710007 62801512 Copy number Normal Quantitative Real-Time PCR 17666543 chr9 38710 199354 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 38729591 38736937 Indels Normal Affymetrix and Illumina arrays 20811451 chr9 38739566 47002067 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 38749614 47002067 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 38754820 38754886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 38758232 38799072 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr9 38762913 47002067 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 38767532 38767776 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38767660 38767758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 38777493 68985820 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 38781241 39355594 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 38795454 38796893 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 38798271 45524943 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 38803944 47002067 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 388065 508103 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 38824747 38868634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 38826768 42021077 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr9 38837386 38865364 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 38859439 40155117 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38859439 40388570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38859439 41216390 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38859439 42118524 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38875096 45990754 Copy number Lung cancer paired-end sequencing 18438408 chr9 3888646 3891247 Gain and loss Pancreatic cancer SNP array 17952125 chr9 38906325 38993888 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 38906782 39964796 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 38981975 39177642 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 39294206 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 39294206 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 39638349 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 40155117 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 40388570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 40388570 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 41135908 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 41135908 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 38981975 42118524 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 3898493 3917759 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 3898646 3901248 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3898646 3901248 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 3898646 3901248 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 38988001 38989500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 38989501 39000000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 38994848 39191451 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 39007501 39025500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 39026653 39039601 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 39026653 39039601 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 39026653 39039601 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 39062763 39278300 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 39062764 39278456 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 39062764 39278456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39062766 39278312 Gain and loss Pancreatic cancer SNP array 17952125 chr9 39063817 39278466 Gain Normal BAC array 16365383 chr9 39072764 39288300 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 39072764 39288300 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 39072764 39288300 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 39086068 39086292 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 39130000 71090000 Loss Breast cancer aCGH 21509527 chr9 39144072 39145476 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39167092 40238075 Loss Normal 244K array 17666407 chr9 39175643 39294206 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 39175643 39294206 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 39175643 39638349 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 39175643 40388570 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 39175643 41135908 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 3917759 4587035 LOH Normal High-resolution SNP genotyping 21211785 chr9 39181102 39181357 Gain and loss Pancreatic cancer SNP array 17952125 chr9 39181102 39181357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39189501 40057750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 39232277 39800645 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 39258647 39435726 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 39263177 43740182 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 39303820 47006996 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 39320806 39321113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39345699 39351955 Gain Normal BAC array 16365383 chr9 39345699 39351959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39348696 39663246 Gain and loss Pancreatic cancer SNP array 17952125 chr9 39358376 39358790 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39361240 39361537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39427162 39434754 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 39433804 39454526 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39434495 39746828 Gain and loss Pancreatic cancer SNP array 17952125 chr9 3943760 3943860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 39475376 39475865 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39475380 39475866 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39621025 39622312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39641897 39642392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39644198 39645518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39666948 45509268 Loss or gain Normal 244K array 17666407 chr9 39704516 39839734 Gain Normal BAC array 16365383 chr9 39706964 39799828 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr9 39712430 39807308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39850052 39850359 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39872801 42668450 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 39874975 39881210 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 39874975 39881210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39887660 39887987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 39907824 44148791 Copy number Lung cancer paired-end sequencing 18438408 chr9 39908370 39912422 Gain Normal BAC array 16365383 chr9 39917051 39917393 Gain and loss Pancreatic cancer SNP array 17952125 chr9 39945832 39946340 Gain and loss Pancreatic cancer SNP array 17952125 chr9 39952687 39959686 Loss Normal TaqMan assays 20972442 chr9 39952904 39964744 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 3995858 3995951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 40004730 40104563 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40004730 40155117 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40004730 40155117 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40004730 41282840 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40012313 40155117 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40012313 40155117 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40012313 40388570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40012313 40388570 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40012313 41135908 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40012313 41216390 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40053116 40053806 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40057751 40246000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 4006257 4006327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 4008620 4008709 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 40098619 40115379 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40200000 42400000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chr9 40200000 42400000 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr9 40200000 42400000 Loss Non-small cell lung cancer dChip 21829676 chr9 402038 403038 Gain Renal cell carcinoma References 21215367 chr9 40205118 40384950 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40205118 40388570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40205118 40388570 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40205118 40513847 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40205118 41016432 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40227764 40362982 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40242621 40388570 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40246001 40667750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 40246094 40246349 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4026720 4060165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 40297346 40329528 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40335514 41016432 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40335514 41135908 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40335514 41135908 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40335514 41507122 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40335514 41575886 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40335514 41784440 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40335514 42118524 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40361838 40362540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4040716 4040815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 40429552 40435819 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40445132 40445531 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40466154 40901224 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 40469774 40471174 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4047573 4222871 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 40483601 40501134 Gain Normal BAC array 16365383 chr9 40488481 40623699 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 40488481 40623699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40503157 40521346 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40505642 47002067 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 40506811 40507066 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40532838 42126014 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 40542271 40542613 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40640414 43494697 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 4065065 4065150 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 4065153 4065253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 40665694 40666001 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40667751 40700500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 40690291 40696540 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 40690291 40696540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40702985 40703384 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40705662 40712679 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40719624 41282840 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40719624 41282840 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40719624 42928370 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40722000 41675000 Copy number Glioblastoma multiforme GISTIC, Affymetrix 100K SNP microarray,250K Sty SNP arrays 21569311 chr9 40726296 41619477 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 40728854 40730185 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40761402 40782112 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 40761402 40782112 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40770000 44510000 Deletion Sezary syndrome Array-based CGH 18413736 chr9 40774142 44085348 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 40801602 43412533 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 40802904 40803390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 40823291 41560441 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr9 40844671 41282840 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40844671 41507122 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40864264 40871239 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40880358 40886601 Gain and loss Pancreatic cancer SNP array 17952125 chr9 40895751 42241500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 40961066 41216390 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40961066 41282840 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40961066 41282840 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40961066 41784440 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 40963582 41506146 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 41000000 43600000 Gain Breast cancer MACArray-Karyo 4K BAC-chips 20409316 chr9 41018804 41020127 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41018807 41020090 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41021936 41022439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41044827 41045012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41056342 41061341 Loss Normal TaqMan assays 20972442 chr9 41065891 41282840 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41065891 41282840 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41065891 41784440 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 4107 174970 Copy number Normal Quantitative Real-Time PCR 17666543 chr9 410801 631751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 41194015 41282840 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41194015 41282840 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41194015 41507122 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41194015 41639786 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41204067 41207717 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41217099 41474902 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41217099 44569219 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41241641 41242641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 41311107 41317364 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 41311107 41317364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41341666 41341975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41343328 42118524 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41343328 42118524 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41408937 41423320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41415897 41784440 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41417726 41423968 Gain and loss Pancreatic cancer SNP array 17952125 chr9 41433280 41433651 Gain and loss Pancreatic cancer SNP array 17952125 chr9 41461794 41471793 Loss Normal TaqMan assays 20972442 chr9 41465094 42126014 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 41465094 44154729 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 41465787 41466094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41477052 41496925 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41503369 41503699 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41503369 41503780 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41506025 41506582 Gain Normal BAC array 16365383 chr9 41506054 41511999 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41506563 41509022 Gain and loss Pancreatic cancer SNP array 17952125 chr9 41552631 41641509 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 41567794 41572793 Loss Normal TaqMan assays 20972442 chr9 41573887 41784440 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41573887 42118524 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41573887 43065826 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41578823 41599544 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 41578823 41599544 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41582417 42118524 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41582417 43755411 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 41590370 44154729 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 41590614 41599775 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 41590614 41599775 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 41618257 44154729 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 41618270 44667856 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 41620397 41620883 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 41620397 41620883 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41693111 41694481 Gain and loss Pancreatic cancer SNP array 17952125 chr9 41749504 44184455 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr9 41766064 41767351 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41776397 41793931 Gain Normal BAC array 16365383 chr9 41786924 41787416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41789224 41790556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41838414 43552146 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41844479 44154729 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 4185001 4187500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 41865563 41872123 Gain and loss Pancreatic cancer SNP array 17952125 chr9 41869688 41870567 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41874910 41876167 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41882866 43666998 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41887112 43645248 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41887112 43687249 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41887112 44569219 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41938516 41945031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41942516 43255970 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41944580 41945037 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41951617 42009580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 41962506 41975187 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 41962506 41975187 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 41970428 46018111 Gain Urothelial carcinoma array CGH validated by FISH 21177765 chr9 41975187 43740182 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 41990060 41990368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42008915 42011277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42013107 45639014 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 42027568 42027913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42030238 42512774 Gain and loss Pancreatic cancer SNP array 17952125 chr9 42118835 42241610 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42173842 42174184 Gain and loss Pancreatic cancer SNP array 17952125 chr9 42212542 42215825 Gain and loss Pancreatic cancer SNP array 17952125 chr9 42240836 42241541 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42241501 42257000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 42256927 42257554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42257001 43126250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 42266761 42267232 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4227141 4236113 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 42302406 42306341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42322811 42328934 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42358299 42401859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42368937 42369043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4236903 4237128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 4237031 4237131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 4237138 4237320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 42390877 43592170 Gain Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr9 42400000 46700000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chr9 42400000 46700000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr9 42400000 46700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 42400000 46700000 Loss Barrett's adenocarcinoma FISH 18663352 chr9 42400000 46700000 Loss Lung adenocarcinoma MACArray-Karyo 1.4K BAC chip 17086460 chr9 42400000 70000000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr9 42400000 70000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 42401965 42419597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42410 42680 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42426289 42426516 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42428096 42428969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42459544 42464233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42468009 42468474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42481251 42482063 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42483813 42484791 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42600203 42600991 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4260865 4261865 Loss Chordoma References 21215367 chr9 42650537 42977344 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 43065826 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 43065826 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 43711107 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 43755411 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 43755411 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 44239139 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 44672026 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 44769175 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 45530433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42650537 45935928 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42659317 42704589 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42661911 42704941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42668451 43591900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 42707230 42710338 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42741662 42742046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42760860 43711107 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 42769310 42769703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42769792 42769994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42789155 42789851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42798656 42802270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42832878 42834209 Gain and loss Pancreatic cancer SNP array 17952125 chr9 42843630 42849081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42848068 42865419 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42937610 43863873 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 4294224 4300092 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4294224 4300092 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4294224 4300092 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4295792 4295892 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 42997106 42997703 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42997107 42997704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42999838 43000738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 42999838 43000750 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4301959 4302019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 43021938 43022278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43021968 43022367 Gain and loss Pancreatic cancer SNP array 17952125 chr9 43031820 43037866 Gain and loss Pancreatic cancer SNP array 17952125 chr9 43052925 43053753 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43055378 43055605 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4305653 4324708 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 43062297 43079862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43079968 43123540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43112795 43112901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43126251 43552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 43152897 43159020 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43156973 43730329 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr9 43177963 43255665 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 43200663 43665655 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 43234985 43773529 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 43253710 43254498 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 43253710 43254498 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43255666 43629895 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 43255666 43730342 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 43255666 44569219 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 43258615 43259572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 432598 432878 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 43265626 43269520 Gain and loss Pancreatic cancer SNP array 17952125 chr9 43299050 43299329 Gain and loss Pancreatic cancer SNP array 17952125 chr9 43326488 47002237 P11.1 Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 43339983 43341306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43343144 43343642 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43364511 43364822 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 43365709 43365894 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4336659 4336969 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 43370147 43401379 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 43396547 43396945 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4340459 4340602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 43409087 44672026 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 43409087 45007237 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 43445836 43740170 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 43445848 43740182 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 43456697 43755411 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 43456697 45530433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 43552146 45059751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 43552501 43564000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 43553039 43553437 Gain and loss Pancreatic cancer SNP array 17952125 chr9 43554722 43555198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43557458 43558052 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43564001 44425500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 43564651 43570731 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 43564651 43570731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43600000 47300000 Loss Lung adenocarcinoma MACArray Karyo 1.4K BAC chip 17086460 chr9 43600000 47300000 Loss Lung cancer MACArray Karyo 1.4K BAC chip 17086460 chr9 43600000 47300000 Loss Rhabdomyosarcoma Vysis GenoSensor system CGH 16790082 chr9 43625059 43861487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 43625059 43861487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43640862 44213225 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 4366094 4367777 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 4366418 4367644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 4368423 4368494 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43709588 44769175 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 43709588 45013784 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 4372543 4501065 Deletion Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chr9 43730342 43735571 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 43735571 43735572 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 43735572 43740182 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 43740182 44054868 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 4376410 4376507 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4376413 4376507 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4376414 4376506 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4376871 4376971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 43778622 43780023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43840297 43840380 Gain and loss Pancreatic cancer SNP array 17952125 chr9 43851329 43851406 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4390070 5049440 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 43907570 43918159 Gain Normal BAC array 16365383 chr9 43928986 43929095 Gain and loss Pancreatic cancer SNP array 17952125 chr9 43928986 43929096 Gain and loss Pancreatic cancer SNP array 17952125 chr9 43937826 43938636 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 43937826 43938636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43951049 43951835 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43958569 43959040 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43959592 43960587 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43961068 43961410 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43962840 43963217 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43977955 43988544 Gain Normal BAC array 16365383 chr9 43986985 43987813 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43989445 43989672 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 43991020 44009877 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44016364 44058440 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44037059 44239139 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44037059 44567187 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44037059 44672026 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44037059 45013784 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44047809 44047915 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44054856 44336911 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44054856 66273526 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44054868 44164065 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 44054868 44406201 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44060107 44060319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44087902 44094010 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44087966 44088049 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4409405 4409405 Loss Epilepsy array comparative genomic hybridization (CGH) 22118685 chr9 4409405 4409405 Loss Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr9 44098982 44099059 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44108554 67354917 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 44114397 44115537 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44124640 46003386 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44132204 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44145248 44936416 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44145248 46003386 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44149779 44213225 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44149779 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44149779 44936416 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44149779 45028876 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44149779 45059751 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44149779 46003386 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44149779 47006984 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44150410 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44164065 44173590 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 44173590 44174447 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 44174435 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44174435 47006984 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44174436 44813195 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr9 44174447 44181813 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 44177530 44177639 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44177530 44177640 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44181813 44183429 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 44182566 44220565 Deletion Normal TaqMan assays 20972442 chr9 44183418 44777511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44183418 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44183418 44804684 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44183429 44183430 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 44183430 44206850 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 44183430 44213237 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 44184864 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44185579 44186032 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 44185579 44186032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44185579 44186035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44195870 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44198714 44199433 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44200031 45083641 Copy number Lung cancer paired-end sequencing 18438408 chr9 44204670 44204976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44206225 44206982 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44206850 44213237 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 44213237 44325975 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 4422090 4423090 Loss Cancer Human 24 color M-FISH 21215367 chr9 4422090 4423090 Loss Renal cell carcinoma References 21215367 chr9 44242231 44243846 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44273919 44274378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44284068 44285683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44289140 44504979 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44289140 44567187 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44289140 44672026 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44289140 44769175 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44289140 45007237 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44289140 45244282 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44289140 45422149 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44289140 45935928 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44322907 44323210 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44325975 44344908 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 44329709 44567187 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44329709 44672026 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44336683 44777511 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44336683 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44336683 44815926 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44336683 46280898 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 4433744 4751794 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 44341886 44342251 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44344908 44364447 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 44344908 45639104 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44344908 47006996 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44353614 44354075 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44364447 44386132 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 44380936 44381649 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44386132 44406201 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 44406201 44409324 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 44409324 44569219 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 44409324 44780914 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44409324 47006996 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44411921 44413406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44417545 44418452 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44425501 44682500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 44487566 44492565 Loss Normal TaqMan assays 20972442 chr9 44496983 44502143 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44498934 44500281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44502089 44502584 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44502980 44567187 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44505796 44672026 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44505796 45935928 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44524979 44525164 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44525566 44530565 Loss Normal TaqMan assays 20972442 chr9 44531566 44541565 Loss Normal TaqMan assays 20972442 chr9 44543566 44555565 Loss Normal TaqMan assays 20972442 chr9 44569219 44667854 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 44569219 44806024 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44569219 45052372 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44586810 45244282 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44600214 44801127 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr9 44600917 44601200 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44612796 44616446 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44667843 44777511 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 44777511 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 44667843 44795721 Deletion Normal Affymetrix 6.0 microarrays 20967226 chr9 44667843 44795721 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 44795721 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 44667843 44795721 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44667843 44804684 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 44806024 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 44667843 44806024 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 44813196 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 44815926 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 44815926 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44667843 44846526 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 44936416 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 44667843 44936416 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 45059751 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 44667843 45059751 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667843 45069883 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44667854 44667855 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 44667855 44729459 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44667855 44735726 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 44667855 44795733 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 44667855 44795733 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 44673172 44815926 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 44682501 44709000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 44694311 44694420 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4469907 4470200 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 44701938 45028876 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 44709001 44712000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 44712001 44891000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 44735726 44795733 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 44761615 44761975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44761983 44762199 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44790217 44790328 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4480440 4577260 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4480440 4577263 Deletion T-cell lymphomas Array-CGH 22341440 chr9 4480444 4577469 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 4480444 4577469 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 4480444 4577469 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44807567 44810524 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44813648 44813993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44814004 44814222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44816363 44819810 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 44817066 44817870 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44817286 44817643 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44819176 45013784 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44819176 45530433 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44820897 44821738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44821124 44821540 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44826598 44826681 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44828111 45270014 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 44837505 44837582 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44840604 45530433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44840604 45935928 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 44889904 47006984 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 chr9 44891001 45243000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 4490444 4587469 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4490444 4587469 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4490444 4587469 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4491100 4493946 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 44915350 44915459 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44915350 44915460 Gain and loss Pancreatic cancer SNP array 17952125 chr9 44930232 44931487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44930714 44931056 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44934285 44934987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44934515 44934848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44937996 44938715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44938141 44938477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44959788 44959899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 44989978 46931786 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 45059822 45060568 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 45059822 45060568 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45063785 45530433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 45063785 45798788 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 45063785 45935928 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 45063785 45935928 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 4507322 4508322 Loss Cancer Human 24 color M-FISH 21215367 chr9 4507322 4508322 Loss Renal cell carcinoma References 21215367 chr9 4510 19739 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 45102861 45113450 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45108988 45175101 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 45121010 45164128 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45153384 45153489 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4515758 4516753 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 4516753 4517024 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 4516796 4520549 Copy number Schizophrenia TaqMan SNP genotyping assay 22095641 chr9 4517024 4517201 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 4517201 4518770 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 4518770 4519873 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 45193556 45193835 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4519873 4527834 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 45240199 45506515 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 45253477 45253843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45254574 45259380 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 45265906 45267184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45270026 45953932 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 4527263 4527605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 45294283 45422149 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 45294283 45530433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 45304083 45306461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 45304083 45306461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45314052 45314667 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45322255 45322744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45331933 45453557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45332000 45332709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45361430 45929597 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr9 45364548 45530433 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 45419207 140241935 Loss Urothelial carcinoma array CGH validated by FISH 21177765 chr9 4543386 4656508 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 45488869 45489147 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45518581 45561687 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45519341 45935928 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 45546237 45546582 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45551983 45552266 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45569314 45579903 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45596343 46003386 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 45596441 45928858 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 45601562 45606640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 45616501 46343250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 45617025 45618278 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45617509 45617848 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45619705 45620413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45619897 45620210 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45619933 45620271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45623437 45624154 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45623555 45624892 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45627276 45627615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45628282 45628990 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45641536 45642369 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45645235 45645346 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45673406 45673616 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45701259 66067527 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 4577032 4577199 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 45776767 45794117 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4578827 4656423 Deletion T-cell lymphomas Array-CGH 22341440 chr9 4578827 4656428 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 4578827 4656428 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4578827 4656428 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45795912 45798555 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45834294 45839449 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4587035 4590708 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 4590126 4590318 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 4590708 5104563 LOH Normal High-resolution SNP genotyping 21211785 chr9 45910550 45911383 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4591795 4592795 Gain Renal cell carcinoma References 21215367 chr9 45923928 45924636 Gain and loss Pancreatic cancer SNP array 17952125 chr9 45929941 47006996 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 45929941 67665361 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 45930004 67718047 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 45932421 45932718 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 45932698 45933011 Gain and loss Pancreatic cancer SNP array 17952125 chr9 459391 459510 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 459391 459570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 4598316 4666464 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4598316 4666464 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4598316 4666464 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4600000 14100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 4600000 14200000 Deletion Glioblastoma Affymetrix 250K SNP array 19074898 chr9 4600000 14200000 Deletion Malignant melanoma Affymetrix 250K SNP array 19074898 chr9 4600000 14200000 Loss Basal cell lymphoma Array CGH 16317097 chr9 4600000 14200000 Loss Diffuse large b-cell lymphoma Array CGH 16317097 chr9 4600000 16600000 Gain Prostate cancer Array CGH 16573809 chr9 4600000 36300000 Loss Metanephric adenoma Oligo aCGH 20802469 chr9 4600000 42400000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 4600000 9000000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 4600000 9000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 4600000 9000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 4600000 9000000 Loss Metastatic melanoma FISH, Enzo BioArray CGH Labeling System 18483359 chr9 4600000 9000000 Translocation Breast cancer transcriptome sequencing 19181860 chr9 46003398 47006996 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 46003695 46004035 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46007168 46007903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46007308 46007647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46011002 46011344 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4601991 4602071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 460291 736105 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 460291 736105 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 460291 736105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46031560 46031671 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4605611 4606611 Loss Renal cell carcinoma References 21215367 chr9 46059969 46060332 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46224288 46224504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4623027 4623756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46252601 46252712 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46272961 46273303 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46275687 46277027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46277008 46277218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46278516 47006996 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 46280066 46280273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46280273 46280681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4633032 4633770 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4633032 4633770 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4633032 4633770 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 46343251 46832500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 46417616 46418216 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46509131 46509437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46514878 46515161 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4651767 4652767 Loss Cancer Human 24 color M-FISH 21215367 chr9 4651767 4652767 Loss Renal cell carcinoma References 21215367 chr9 4652294 4655258 Deletion T-cell lymphomas Array-CGH 22341440 chr9 4652297 4655258 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chr9 4652298 4655256 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 4652298 4655256 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 4652298 4655256 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4652315 4655255 Gain and loss Pancreatic cancer SNP array 17952125 chr9 46525761 46528123 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46546672 46546975 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46584172 46585552 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46595553 46595931 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46608158 46622405 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 4662298 4665258 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4662298 4665258 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4662298 4665258 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 46626013 46627628 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4663106 4663406 Loss Renal cell carcinoma References 21215367 chr9 46664814 46665120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46683785 46684150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4669559 4697634 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 4669559 4697634 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 4669559 4697634 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4669565 4696594 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 4669566 4696605 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4669602 4670140 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 4669669 4696506 Deletion T-cell lymphomas Array-CGH 22341440 chr9 46752479 46753964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46758094 46759051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46761022 46762096 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4677842 4678905 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 467856 468349 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4679566 4706594 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4679566 4706594 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4679566 4706594 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4680061 4680151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 468153 1270934 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 46832501 46871000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 46838033 46839853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46841154 46841655 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46861151 46862522 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 46871001 65524000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 46952956 47225039 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chr9 46959647 46960016 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 4701157 4732043 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 4701158 4731227 Deletion T-cell lymphomas Array-CGH 22341440 chr9 4701158 4732043 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 4701158 4732043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 4701158 4732043 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4701158 4732043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 47053925 47054633 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 47089165 47104140 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4711158 4741227 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4711158 4741227 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4711158 4741227 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4716993 4717993 Gain Renal cell carcinoma References 21215367 chr9 4762800 4762895 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 4771475 4772078 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 477432 477532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 477781 478396 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 477781 478396 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 477781 478396 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4781417 4782149 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4781417 4782149 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4781417 4782149 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4782833 4851064 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 4782937 4851061 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 4782937 4851061 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 4782937 4851061 Deletion T-cell lymphomas Array-CGH 22341440 chr9 4782937 4851061 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4782937 4851061 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4789675 4790118 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4789675 4790255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4789729 4790002 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4792834 4861064 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4792834 4861064 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4792834 4861064 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4793799 4794972 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4819645 4839963 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 4840285 4840381 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4840297 4840375 Copy number Acute myeloid leukemia BAC aCGH 20962326 chr9 4840297 4840375 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4840297 4840375 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4849120 4849260 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 4850297 4850375 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4850297 4850375 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4850297 4850375 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4873390 4873452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 487479 508675 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr9 4885242 4918196 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 49000000 141213431 Deletion Leukemia References 17361228 chr9 49000000 141213431 Gain Monoclonal gammopathy of undetermined significance CGH, Real-Time PCR 17077331 chr9 49000000 141213431 Loss Glioblastoma References 16823260 chr9 49000000 141213431 Noncopy numberrandom LOH Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 4934670 4935892 Gain and loss Pancreatic cancer SNP array 17952125 chr9 4934670 4935904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4944346 4945962 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4944346 4945962 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4944346 4945962 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4944670 4986126 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4944670 4986126 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4944670 4986126 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 494703 736102 Gain and loss Pancreatic cancer SNP array 17952125 chr9 495156 518904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 4958106 4958225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 4975085 5117995 Copy number Acute lymphoblastic leukemia Affymetrix Genome-Wide Human SNP Array 6.0 21680795 chr9 4975085 5117995 Gain or loss Breast cancer - 20668451 chr9 4975085 5117995 Gain or loss Cancer - 20668451 chr9 4975085 5117995 Gain or loss Lung cancer - 20668451 chr9 4975085 5117995 Gain or loss Ovarian cancer - 20668451 chr9 4975085 5117995 Gain or loss Pancreas cancer - 20668451 chr9 4975085 5117995 Gain or loss Prostate cancer - 20668451 chr9 4975245 5117995 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 4975245 5117995 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 4975245 5117995 Deletion T-cell lymphomas Array-CGH 22341440 chr9 4975245 5117995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 4975951 5117495 Amplification or deletion Cancer Array CGH 17440070 chr9 4982438 4982538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 4985245 5128183 Amplificationlication Hodgkin's lymphoma Affymetrix U133 A&B microarrays 20628145 chr9 4985245 5128183 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4985245 5128183 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 4985245 5128183 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 498545 498825 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 499448 501483 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 499448 501483 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 499448 501483 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5011921 5012921 Loss Renal cell carcinoma References 21215367 chr9 5011988 5116892 Gain and loss Pancreatic cancer SNP array 17952125 chr9 501466 533550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 50190 164727 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 5020641 5021641 Gain Renal cell carcinoma References 21215367 chr9 503029 503991 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 503029 503991 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 503029 503991 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 503057 518363 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 503057 518363 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 503057 518363 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5030945 5031940 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5030945 5031940 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5031354 5032112 Gain and loss Pancreatic cancer SNP array 17952125 chr9 504142 517931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 504703 746103 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 504703 746103 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 504703 746103 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5052897 5052952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5055620 5056620 Loss Cancer Human 24 color M-FISH 21215367 chr9 5055620 5056620 Loss Renal cell carcinoma References 21215367 chr9 50700000 114900000 Loss Leukemia RQ-PCR 18688285 chr9 50700000 65900000 Loss Autism References 18414403 chr9 5071404 5071754 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 5071417 5074650 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5072042 5072141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5074214 5096788 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 5074995 5076065 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5074995 5076220 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5080122 5081122 Gain Renal cell carcinoma References 21215367 chr9 5081093 5081600 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5082407 5082475 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5082407 5082475 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5084024 5084097 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5084024 5084097 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5084139 5085014 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5085020 5085086 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5085085 5085156 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5085085 5085156 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5085158 5085226 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5085158 5085226 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5086263 5086330 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5086263 5086330 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5086341 5086408 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5086341 5086408 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5086410 5086482 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5086410 5086482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5086521 5086587 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5086587 5086652 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5086587 5086652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5086666 5088193 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5088205 5088271 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5088205 5088271 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5088273 5088340 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5088273 5088340 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5088341 5089325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5089335 5089403 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5089335 5089403 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5089560 5090229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5090236 5091009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5097156 5097223 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5097156 5097223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5097570 5097636 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5097570 5097636 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5097937 5099290 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5099157 5100157 Loss Chordoma References 21215367 chr9 5099294 5099362 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5099294 5099362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5099364 5099421 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5099364 5099421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5099396 5206183 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 5099422 5099492 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5099422 5099492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5099496 5100762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5100371 5101371 Loss Cancer Human 24 color M-FISH 21215367 chr9 5100371 5101371 Loss Renal cell carcinoma References 21215367 chr9 5100913 5102842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5101001 5104500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 5102435 5102849 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5103549 5104752 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5103549 5104778 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5103549 5104778 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5104563 5149385 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 5110861 5113421 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5110861 5113421 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5110861 5113421 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5112238 5112323 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5113452 5114909 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5113452 5114909 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5113452 5114909 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5116722 5117722 Loss Cancer Human 24 color M-FISH 21215367 chr9 5116722 5117722 Loss Renal cell carcinoma References 21215367 chr9 5123114 5123976 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 514413 843033 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 5149385 13005419 LOH Normal High-resolution SNP genotyping 21211785 chr9 5153793 5175627 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5153793 5175627 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5153793 5175627 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5153865 5175618 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5153865 5175618 Gain and loss Pancreatic cancer SNP array 17952125 chr9 516096 516151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5163863 5185618 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5163863 5185618 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5163863 5185618 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5176737 5176827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 51800000 140273252 Amplification Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chr9 51800000 140273252 Amplification Non-small cell lung cancer Array comparative genomic hybridization 21044232 chr9 51800000 140273252 Deletion Developmental delay FISH 19490664 chr9 51800000 140273252 Deletion Medulloblastoma SNP arrays 21979893 chr9 51800000 140273252 Duplication Acute lymphoblastic leukemia Affymetrix 50K arrays and 250K arrays 20435627 chr9 51800000 140273252 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr9 51800000 140273252 Gain Astrocytoma CGH 17387387 chr9 51800000 140273252 Gain Esophageal squamous carcinoma CGH 21637470 chr9 51800000 140273252 Gain Glioblastoma multiforme aCGH 21080181 chr9 51800000 140273252 Gain Glioblastoma multiforme conventional CGH 21080181 chr9 51800000 140273252 Gain or loss Endometrial cancer CGH 22040021 chr9 51800000 140273252 Loss Breast cancer aCGH 21264507 chr9 51800000 140273252 Loss Normal Human genome CGH 54k ARRAY PLATFORM 22144094 chr9 51800000 140273252 Loss Renal cell carcinoma Affymetrix 10K 2.0 or 250K Nsp SNP mapping arrays 19461508 chr9 5183339 5183558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5209901 5375778 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 5212440 5212537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5221402 5223978 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5221443 5225304 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5221443 5225304 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5221443 5225304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5231419 5233967 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5231419 5233967 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5231419 5233967 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5256232 5873409 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 5257043 5354592 Deletion Mortal Illumina 550K array 21835882 chr9 5257043 5354592 Deletion or duplication Mortal Illumina 550K array 21835882 chr9 52700098 52985658 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 5287921 5444512 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 5288498 5289498 Loss Renal cell carcinoma References 21215367 chr9 5289868 5294580 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5289868 5294580 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5289868 5294580 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5289868 5294580 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5289868 5294580 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5299868 5304580 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5299868 5304580 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5299868 5304580 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5301445 5301716 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5301445 5301716 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5301567 5327707 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 5302026 5302269 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5311445 5311716 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5311445 5311716 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5311445 5311716 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5324969 5329873 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5324969 5329873 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5324969 5329873 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5324969 5329873 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5324969 5329873 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5334969 5339873 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5334969 5339873 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5334969 5339873 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 534479 553315 Loss Normal 244K array 17666407 chr9 5346312 5346525 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5347971 5427860 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5347973 5427878 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5347973 5427878 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5347973 5427878 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5347973 5427878 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 535052 535153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 5357971 5437860 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5357971 5437860 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5357971 5437860 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 537037 537137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 537217 682143 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 5408371 5408957 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5408371 5408976 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5423001 5425000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 54356346 55213026 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 5440558 5458477 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 5440559 5458475 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5440559 5458477 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5440559 5471569 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5440559 5471569 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5440559 5471569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5450559 5468477 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5450559 5468477 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5450559 5468477 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5460916 5486713 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 5470913 5490311 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 548826 548926 Gain and loss Pancreatic cancer SNP array 17952125 chr9 548826 548927 Gain and loss Pancreatic cancer SNP array 17952125 chr9 548826 548930 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5491226 5491376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5491321 5491416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5500544 5561282 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 5500570 5560398 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5500570 5560398 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5500579 5565421 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5500579 5565421 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5500579 5565421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5510545 5571282 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5510545 5571282 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5510545 5571282 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 55213026 55698478 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 5569052 5569152 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5577232 5759452 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5619120 5766555 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5619120 5766555 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5619120 5766555 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5619327 5766554 Gain and loss Pancreatic cancer SNP array 17952125 chr9 56212486 56498046 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 5629327 5776557 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5629327 5776557 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5629327 5776557 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5631633 5632810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 5631648 5632801 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 56498046 57154834 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 5689178 5733953 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 5755076 5823070 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5774571 5823081 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5774571 5823081 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5774571 5823081 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5774573 5823082 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5784572 5833081 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5784572 5833081 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5784572 5833081 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5804580 5804680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 580596 598665 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 581610 598683 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 5826620 5860203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 5832111 5832200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 5841 9833 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5845781 5846426 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5855723 5856426 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5855723 5856426 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5855723 5856426 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5859036 38302881 Copy number Lung cancer paired-end sequencing 18438408 chr9 5873378 5904698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 5880150 5880254 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5880150 5880254 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5880908 5899822 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5880908 5899822 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5880908 5899822 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5880909 5899822 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5880909 5899822 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5889794 5890794 Loss Renal cell carcinoma References 21215367 chr9 5890909 5909822 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5890909 5909822 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5890909 5909822 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5901303 5901403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 590 35695745 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chr9 5909008 5998003 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 5909008 5998003 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 5909022 5923884 Deletion T-cell lymphomas Array-CGH 22341440 chr9 5909022 5958348 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 5909023 5944096 Gain and loss Pancreatic cancer SNP array 17952125 chr9 5919008 6008003 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5919008 6008003 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5919008 6008003 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 5958149 5997241 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 596286 596605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 596687 596949 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 5993678 8490985 Gain Medulloblastoma array-CGH 16783165 chr9 6001025 6005618 Deletion T-cell lymphomas Array-CGH 22341440 chr9 6001043 6005618 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 6001043 6005618 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 6001043 6005618 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6002290 6005616 Gain and loss Pancreatic cancer SNP array 17952125 chr9 600460 694075 Loss Autism qPCR, Affy 6.0 20531469 chr9 6011019 6015640 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6011019 6015640 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6011019 6015640 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 601628 33066291 Duplication Myelodysplastic syndrome - 21251322 chr9 6019406 6019706 Loss Renal cell carcinoma References 21215367 chr9 60300000 70000000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chr9 60300000 70000000 Amplification Breast cancer Affymetrix SNP 6.0 arrays 21990379 chr9 60300000 70000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 60300000 70000000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 60300000 70000000 Gain Breast cancer Human 19K cDNA single-spot arrays 17603634 chr9 60300000 70000000 Gain Schizophrenia Affymetrix 6.0 array 21399695 chr9 60300000 72700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 606860 639030 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 607201 1037300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 6074555 6108758 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 6089120 6090120 Gain Renal cell carcinoma References 21215367 chr9 61100000 158821424 Gain Renal cell carcinoma Affymetrix GeneChip Human Mapping 10K Array 18592004 chr9 61247972 61249443 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr9 6132108 6132208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 61400000 140273252 Duplication Heart disease Illumina 620Quad Beadchip platform 21282601 chr9 61400000 140273252 Gain Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr9 61400000 140273252 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chr9 6185934 6187470 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6196040 6196776 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6196040 6196776 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6196040 6196776 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6205809 6247976 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6231677 6247982 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 6231678 6247982 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 6231678 6247982 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 6231678 6247982 Deletion T-cell lymphomas Array-CGH 22341440 chr9 6231678 6247982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6241678 6257982 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6241678 6257982 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6241678 6257982 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6245319 6896384 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 6266465 6266969 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6268719 6269198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6278596 6280392 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6278596 6280392 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6278596 6280392 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6317157 6318157 Gain Cancer Human 24 color M-FISH 21215367 chr9 6317157 6318157 Gain Renal cell carcinoma References 21215367 chr9 6318375 6321900 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 6318375 6321900 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 6318375 6321900 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6318375 6321900 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 632169 638239 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 6328375 6331900 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6328375 6331900 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6328375 6331900 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6342439 6346712 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 6348344 6377336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 6348644 6740836 Deletion Dyslexia Array CGH 22102821 chr9 6359528 6392978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 63660398 63661000 Gain Normal BAC array 16365383 chr9 6366290 6367290 Gain Renal cell carcinoma References 21215367 chr9 637589 1196378 Insert Cancer ultra-high resolution array CGH 21272361 chr9 6403150 6497051 Gain or loss Breast cancer - 20668451 chr9 6403150 6497051 Gain or loss Cancer - 20668451 chr9 6403150 6497051 Gain or loss Lung cancer - 20668451 chr9 6403150 6497051 Gain or loss Ovarian cancer - 20668451 chr9 6403150 6497051 Gain or loss Pancreas cancer - 20668451 chr9 6403150 6497051 Gain or loss Prostate cancer - 20668451 chr9 6403150 6497051 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 6403151 6497051 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 6403151 6497051 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 6403151 6497051 Deletion T-cell lymphomas Array-CGH 22341440 chr9 6403151 6497051 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6403151 6497051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6413151 6507051 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6413151 6507051 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6413151 6507051 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 64135929 64295467 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 64504445 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 64767717 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 65072855 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 65433585 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 65678076 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 65886538 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 66380661 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 67194731 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 67533672 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 67651405 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 67978103 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 68271653 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64135929 68383081 Del or dup Non-syndromic sensorineural hearing loss Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip 17289997 chr9 64135929 68383081 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64139414 64139534 Gain and loss Pancreatic cancer SNP array 17952125 chr9 64139416 64139534 Gain and loss Pancreatic cancer SNP array 17952125 chr9 64141347 64192367 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 64142412 64192140 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 64175541 64181182 Gain and loss Pancreatic cancer SNP array 17952125 chr9 64205091 64235183 Gain and loss Pancreatic cancer SNP array 17952125 chr9 64207745 111479523 Deletion Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 chr9 64225633 64227025 Gain and loss Pancreatic cancer SNP array 17952125 chr9 64345468 64767717 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64393902 64394008 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6451073 6451073 Gain Epilepsy array comparative genomic hybridization (CGH) 22118685 chr9 6451073 6451073 Gain Schizophrenia array comparative genomic hybridization (CGH) 22118685 chr9 6457596 6460375 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 6458385 6458741 Gain and loss Pancreatic cancer SNP array 17952125 chr9 645962 746415 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 64703559 64703665 Gain and loss Pancreatic cancer SNP array 17952125 chr9 64724577 64835350 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64724577 65072855 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64748842 64749096 Gain and loss Pancreatic cancer SNP array 17952125 chr9 64817718 65678076 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64817718 65886538 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64817718 66380661 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 6484492 6514148 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 6484492 6522477 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 64885350 65072855 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64885350 65433585 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64885350 67533672 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64885350 67651405 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 64897025 64902160 Gain and loss Pancreatic cancer SNP array 17952125 chr9 64942356 64947625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 649986 650326 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 64999193 64999476 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65011773 65070809 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6512004 6839652 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 65150514 65721634 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 6522469 6635650 Deletion T-cell lymphomas Array-CGH 22341440 chr9 6522469 6635692 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 6522469 6635692 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 6522469 6635692 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65227093 65234068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65236345 65236744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65243183 65249430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65272856 66380661 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 65273740 65274047 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65288021 70163145 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 65288021 70165608 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 65288021 70174100 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 65288021 70363843 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 65288021 70385735 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chr9 65288021 70791051 LOH Normal High-resolution SNP genotyping 21211785 chr9 6532464 6645692 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6532464 6645692 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6532464 6645692 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 65333027 65333136 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65333027 65333137 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65336138 68476231 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 65336138 70168361 Gain Ollier disease Affymetrix SNP 6.0 array 21235737 chr9 65354219 65354936 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65360378 65361133 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65387003 65401977 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 65387003 65401977 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65426107 65426390 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65436511 65437693 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65483586 65886538 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 65524001 65642000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 6558844 6559360 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65596863 65601224 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65601303 65618670 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65642001 65934500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 6566991 6828660 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 65712995 65714417 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65718540 65719503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65792225 65809573 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65798637 65800071 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65798655 65799984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65801788 65802283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65809652 65814005 Gain and loss Pancreatic cancer SNP array 17952125 chr9 65821868 65823155 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 65900000 68700000 Deletion gain Sudden cardiac death CGH 19188705 chr9 65984769 65988928 Deletion Schizophrenia NimbleGen HD2 platform 21346763 chr9 6608004 6646619 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr9 66082347 66082941 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66085081 66085981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66093288 66188415 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66093288 66380661 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66093288 67246069 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66098368 66099478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6610160 6848238 Copy number Medullary thyroid carcinoma Agilent Human Genome CGH microarray 244K platform 18765511 chr9 6610209 6725087 Duplication Schizophrenia NimbleGen HD2 platform 21346763 chr9 66106786 66107810 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66110101 66110478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66125098 140273252 Copy number Lung cancer paired-end sequencing 18438408 chr9 66134201 68550350 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 66134232 66135099 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66136706 66136933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66140251 66226000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 66146187 90284163 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 66154726 68389984 Copy number Lung cancer paired-end sequencing 18438408 chr9 66172935 66173018 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66183856 66183933 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66186416 66380661 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66186416 66762700 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66186416 67194731 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66186416 67246069 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66194477 66232978 Gain Normal TaqMan assays 20972442 chr9 66194477 68054002 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr9 66194761 66196315 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66197963 66198083 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66213195 66213493 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66229114 66229738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66233392 66234016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66234089 66239730 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66240462 66240828 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66251198 66278592 Gain Normal TaqMan assays 20972442 chr9 66252852 66254103 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66254687 66254796 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66254687 66254797 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66256517 66257651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66275847 66276566 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66276078 66276419 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66282332 66284814 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66283378 66284139 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66284181 66285805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6629126 6629631 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6629141 6629611 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66293050 66295412 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 66293050 66295412 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66349110 66349393 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6639141 6639611 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6639141 6639611 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6639141 6639611 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 66404016 66405807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66404405 66405734 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66405631 66439058 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 6641440 6662988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 66416926 66460004 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6642732 6660448 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 66433097 66460893 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66452448 66452554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66462229 66988519 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 66467622 66478162 Gain and loss Pancreatic cancer SNP array 17952125 chr9 66508251 66532500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 6652424 6653792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66528164 66762694 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66528164 66762700 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66528164 66987465 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66528164 67194731 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66528164 67246069 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66528164 67769770 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66528164 67978103 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 6653209 6660913 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 66532501 66560500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 66560501 66566500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 66572501 66576500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 66576501 66579000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 66576667 66576958 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66579001 66598000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 6659004 6660008 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66598001 66603000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 66598357 66598432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66599110 66762700 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66599110 67194731 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66599145 67246069 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66601281 66601363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6662095 6663766 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 6662366 6663797 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6662366 6663797 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6662366 6663797 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6665215 6665662 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66670389 66670785 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66670389 66670899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 666890 736103 Deletion T-cell lymphomas Array-CGH 22341440 chr9 66689331 66689853 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66690962 66691665 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66693927 66694569 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6669691 6670633 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6669691 6670633 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6669691 6670633 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 66700433 66704009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6675215 6675662 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6675215 6675662 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6675215 6675662 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 66766441 66770802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 66770881 66788248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6678118 6707908 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 66812701 67246069 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 66834510 66834750 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6684812 6733422 Loss Normal 244K array 17666407 chr9 6689129 6702859 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chr9 6689129 6702859 Total allelic loss Normal High-resolution SNP genotyping 21211785 chr9 66931960 68131416 Loss Normal 244K array 17666407 chr9 66961803 66979151 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6701059 6701224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 6701071 6701196 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 67017595 67024803 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 67017595 67024803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67033497 67034142 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67036398 67037094 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67037466 67246069 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 67037466 67533672 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 67038202 67038727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67073532 67073772 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67077787 67113208 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 6712361 6778085 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 67147030 67191484 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 6715892 6735076 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6715892 6735076 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6715892 6735076 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6719120 6720106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 6719261 6719815 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 6724491 6725076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67265251 67277250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67277251 67316000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67316001 67362750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67346070 67651405 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 67346070 67769770 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 67346070 68271653 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 67354342 67354453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67362751 67788500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67372037 67372376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67375502 67376221 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67375737 67376074 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 67375737 67376074 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67379230 67379932 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67379369 67379702 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67379923 67380236 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67382750 67384009 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67383182 67383518 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6738546 6739014 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 6738703 6738981 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6738703 6738981 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67401551 67402384 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67416254 67572995 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 67416254 67848630 Duplication Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 67448765 67449048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67454456 67454801 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67469692 67651405 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 6747654 7165647 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 6747654 7165647 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 6747654 7165647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6748078 7165647 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6748553 6749012 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6748553 6749012 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6748553 6749012 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 67514611 67515032 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67516580 67559660 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 67516580 67560113 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 67516581 67560113 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 67516581 67560113 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67527213 67527319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67536798 67554158 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67553139 67558591 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67567259 67577817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6757654 7175648 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6757654 7175648 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6757654 7175648 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6758646 6835560 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6758646 6835560 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 6758646 6835560 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 67645568 67665361 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 67665361 67673798 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 67666787 67667387 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67673798 67675870 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 67675870 67675871 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 67675871 67678367 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 67675871 67678367 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 67680356 67680830 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67750232 67750486 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67778125 69267830 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 67788501 67790500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67788619 67789309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 67788619 67789309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67790501 67796000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67796001 67803750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67805371 67805995 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67807650 68920147 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 67807650 69267830 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 67814001 67816000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67815256 67815727 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67827217 68238013 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 67827217 68383081 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 67847100 67848378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67860426 67860795 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67861450 67861831 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67867263 67867869 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67870022 67947271 Gain Normal TaqMan assays 20972442 chr9 67873001 67904000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67898743 67898862 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67900507 67902055 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67903302 67904016 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67904001 67916500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67910401 67915200 Deletion Glioma mate-paired sequence 20126413 chr9 67916501 67924500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67917681 67945195 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 67924501 67970500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 67929775 67935153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 67936136 67937386 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67937462 68124255 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 67940488 67998618 Gain and loss Pancreatic cancer SNP array 17952125 chr9 67970501 67999000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 68055004 68073667 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68065023 68271653 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 68065023 68383081 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 68070616 68271653 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 68070616 68383081 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 68073667 68115167 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68075811 68076051 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68076995 68111427 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68086439 68144485 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68095689 68096126 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68097994 68098865 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 68115167 68115168 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68115168 68126437 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68116449 68135817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68126437 68138997 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68131062 68199726 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 68131062 68199726 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68138997 68143440 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68141956 68151359 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr9 68143440 68143441 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68143441 68171672 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68147337 68149554 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68171672 68204991 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68186101 68822846 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68201369 68374205 Deletion T-cell lymphomas Array-CGH 22341440 chr9 68201781 68375530 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68204991 68227664 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68213043 68857675 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 68213055 68934188 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 68227664 68292783 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 6824386 6825577 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68264561 121864418 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 68264561 138274031 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 68264900 107327019 Deletion Acute myeloid leukemia - 21251322 chr9 68285042 68822846 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68285042 68857675 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68285042 68877088 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68285042 69116788 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68285042 69134621 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68285783 68285878 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 68287229 68287304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68289356 69205249 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68291254 68364711 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 68291819 68291901 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68292059 68292141 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68292783 68382541 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68314833 68315073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68352238 70179779 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 6835327 15447372 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 68355475 68374809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68381054 68385337 Deletion T-cell lymphomas Array-CGH 22341440 chr9 68381054 68385337 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68382541 68456197 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 68388036 68877088 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68390751 68973000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 6839652 14703204 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 68400000 68800000 Loss Lung squamous cell carcinoma sub-megabase resolution tiling-set rearray platform 20842114 chr9 68402661 68437314 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68418446 68418496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 68418767 68418799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 68427723 68857675 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68427723 68920147 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68427723 68985808 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68432576 68920147 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68442901 68857675 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68456185 68857675 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68456185 68920147 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 68456197 68795766 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 68464033 68470861 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 68489300 68492024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68494376 68552413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 68494376 68552413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68528295 83452036 Copy number Hodgkin's lymphoma Array-CGH Genomic Labeling System, Invitrogen, 17606441 chr9 68542665 68543102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 68542665 68543102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68550170 68853645 Deletion T-cell lymphomas Array-CGH 22341440 chr9 68550170 68853645 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68624518 68628163 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68624535 68628070 Deletion T-cell lymphomas Array-CGH 22341440 chr9 68659081 68700471 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68669831 68670250 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68671801 68714929 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 68671801 68714929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68682432 68682538 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68700000 72200000 Gain Breast cancer CGH, Affymetrix SNP microarray 17899364 chr9 68700000 72200000 Loss Mantle cell lymphoma Array CGH 19029149 chr9 68700000 90400000 Deletion Hepatocellular carcinoma Array CGH 16750200 chr9 68715487 68738681 Copy number Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 68715488 68738681 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68739759 68739984 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68741584 68742418 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68765057 68765434 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68767701 68768736 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68769229 68769709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6877001 6881000 Deletion Glioma mate-paired sequence 20126413 chr9 68775278 68776064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68780343 68780449 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6878774 6879087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 68788407 68789307 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 68788407 68789307 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68790838 68792024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68795754 69247933 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 68795766 68805392 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 68795766 68812645 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 68803141 69267830 Deletion Schizophrenia Affymetrix 6.0 microarrays 20967226 chr9 68805392 68812645 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 68812645 68822858 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 68812707 68837323 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68820571 70180496 Copy number Lung cancer paired-end sequencing 18438408 chr9 68822858 68846015 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 68846015 68890044 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 68857507 68858562 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68879898 68918491 Gain and loss Pancreatic cancer SNP array 17952125 chr9 68879898 68918506 Deletion T-cell lymphomas Array-CGH 22341440 chr9 68890045 68905448 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 68905449 69096836 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 68923970 68941102 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 68923970 68941102 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68930947 68938310 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68940083 68945535 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 68940083 68945535 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 68943698 68979983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68950799 68989602 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68955545 68976524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68960320 68982731 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68961333 68974936 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68965177 68987047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 68965940 69099672 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6900000 51800000 Loss Normal Human genome CGH 53k ARRAY PLATFORM 22144094 chr9 69000941 69059326 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 69001010 69295450 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 69001147 69242435 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 69007972 69011549 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69017452 69018076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69018643 69099674 Deletion T-cell lymphomas Array-CGH 22341440 chr9 69020356 69021057 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69022170 69022683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69039483 69039993 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69066928 69067578 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69096836 69114783 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 69098193 69133186 Gain Normal TaqMan assays 20972442 chr9 69111580 69111661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69114784 69131209 Copy number Normal Birdsuite, version 1.5.2 22087296 chr9 69114784 69131209 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 69115000 83571000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr9 69131209 69134633 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 69134633 69168902 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 69137176 69137430 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69168902 69213468 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 69173795 69236922 Deletion T-cell lymphomas Array-CGH 22341440 chr9 69173795 69236925 Gain and loss Pancreatic cancer SNP array 17952125 chr9 69181028 69191301 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 69181028 69191301 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69182607 69182713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69213468 69256653 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 69237001 69279500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 69253679 69273814 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 69256653 69267842 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 69270744 69286754 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 69274756 69516776 Deletion T-cell lymphomas Array-CGH 22341440 chr9 69274756 69516776 Gain and loss Pancreatic cancer SNP array 17952125 chr9 69277327 69290951 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 69279501 69284000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 69284001 69328250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 69292146 69299660 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 69328251 70124250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 69373421 69377036 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69382952 69383597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69385859 69386554 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69387673 69388201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69406197 69406686 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6942475 6942544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 69433592 69434438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69465527 69468635 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69473030 69504683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6953944 6954044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 69562541 69609564 Deletion T-cell lymphomas Array-CGH 22341440 chr9 69562608 69604412 Gain and loss Pancreatic cancer SNP array 17952125 chr9 69574169 69577745 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69583688 69584333 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69586589 69587283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69588393 69588933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69606629 69607139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69634070 69634916 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6964901 10394125 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chr9 69659998 69694532 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 69665257 69750697 Deletion T-cell lymphomas Array-CGH 22341440 chr9 69666443 69669551 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69671824 69730028 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 69671824 69730028 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69672192 69717464 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 69672192 69717464 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6967233 10105338 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 69728844 69729112 Gain and loss Pancreatic cancer SNP array 17952125 chr9 69732103 69732746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 69732479 69732630 Loss Normal 244K array 17666407 chr9 697470 698210 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 69885470 69886229 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 69885470 69886229 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69888074 70071442 Deletion T-cell lymphomas Array-CGH 22341440 chr9 69888074 70071442 Gain and loss Pancreatic cancer SNP array 17952125 chr9 6989378 6989685 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 69901864 69902904 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 69911883 69912354 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6993572 6993672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 69967185 69973966 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 6998862 6999862 Loss Cancer Human 24 color M-FISH 21215367 chr9 6998862 6999862 Loss Renal cell carcinoma References 21215367 chr9 70000000 136600000 Loss Gastrointestinal stromal cancer array CGH 16982739 chr9 70000000 140273252 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chr9 70000000 70500000 Deletion Biliary cancer Array CGH 19435499 chr9 70000000 70500000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr9 70002485 70018526 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70033041 70033220 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70033044 70033220 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70045235 70045792 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70046662 70104738 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 70046662 70104738 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70047630 70048646 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70052393 70052784 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70055955 70056392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70069524 70088133 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70070714 70104281 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70103452 70196890 Deletion T-cell lymphomas Array-CGH 22341440 chr9 70103491 70199343 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70107603 70109820 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 70107603 70109820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70124251 70133000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 70139836 70433845 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 70156079 70156171 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70156080 70156171 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70161635 70335797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 70161635 70335797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70216332 70216846 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 70216846 72703916 Loss Chronic lymphocytic leukemia Affymetrix GeneChip Mapping Nsp1-624K arrays 21546498 chr9 70229379 70259094 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70229986 70893656 Copy number Lung cancer paired-end sequencing 18438408 chr9 70230000 83520000 Gain Acute lymphoblastic leukemia - 21339820 chr9 70234710 70249709 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 70235000 135219000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr9 70235342 70249709 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 70235778 70702488 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 70235778 71184342 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 70238468 140241905 Gain Oral cancer 105K CGH oligonucleotide array 21386901 chr9 70250517 70263703 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 70272245 70273613 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 70341320 70345603 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 70341320 70345603 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70379741 104889577 Deletion Acute myeloid leukemia - 21251322 chr9 70380423 71291305 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70403235 73112263 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 70413861 70416713 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70423633 70423930 Gain and loss Pancreatic cancer SNP array 17952125 chr9 70500000 101600000 Deletion Bipolar disorder whole-organ genomic mapping strategy 18458673 chr9 70500000 113900000 Loss Acute lymphoblastic leukemia Array-CGH and Metaphase-CGH 20067559 chr9 70500000 72700000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 70500000 72700000 Copy number Normal - 21701786 chr9 70500000 72700000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 70500000 73100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 70500000 89600000 Deletion Glioblastoma multiforme 50K Xba SNP mapping arrays (Affymetrix) 21750150 chr9 70500000 89600000 Loss Cancer array-based techniques 21183584 chr9 70510435 70813911 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 70510436 70813911 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 70510436 70813911 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70510800 70705182 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 70533712 70587683 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70537179 70589214 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70543808 70592652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70543884 70585779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70545851 70583546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70546057 70585131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70546157 70583021 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70553118 71257036 LOH Normal High-resolution SNP genotyping 21211785 chr9 70584833 70586024 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70593047 70594406 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70641802 70751875 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 7064640 7064710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 70654445 70654554 Gain and loss Pancreatic cancer SNP array 17952125 chr9 706912 707998 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 706912 707998 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 706912 707998 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 70705182 72993063 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 70706132 70740334 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70740609 70740715 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70817241 70818849 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 70817241 70818849 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70817270 70818828 Gain or loss Breast cancer - 20668451 chr9 70817270 70818828 Gain or loss Cancer - 20668451 chr9 70817270 70818828 Gain or loss Lung cancer - 20668451 chr9 70817270 70818828 Gain or loss Ovarian cancer - 20668451 chr9 70817270 70818828 Gain or loss Pancreas cancer - 20668451 chr9 70817270 70818828 Gain or loss Prostate cancer - 20668451 chr9 70818645 70829929 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 70840164 70878757 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 70840164 70878757 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70855144 70855377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 70861488 70861697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 70869502 72167601 LOH Normal High-resolution SNP genotyping 21211785 chr9 70890000 71120000 Duplication Schizophrenia BAC array CGH 17989066 chr9 70891001 70894700 Deletion Glioma mate-paired sequence 20126413 chr9 70892981 70893296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 70909441 70970498 Copy number Lung cancer paired-end sequencing 18438408 chr9 70912141 71382638 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 70926205 71059940 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 70926501 70934700 Deletion Glioma mate-paired sequence 20126413 chr9 70927941 70933176 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 70956382 71059938 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 70956382 71059938 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 70967747 70968064 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 70985234 94889201 Copy number Lung cancer paired-end sequencing 18438408 chr9 70992301 70996800 Deletion Glioma mate-paired sequence 20126413 chr9 70994339 70994812 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 7099534 7099834 Loss Chordoma References 21215367 chr9 71046757 71610355 LOH Normal High-resolution SNP genotyping 21211785 chr9 71078627 72106154 LOH Normal High-resolution SNP genotyping 21211785 chr9 71083301 71088300 Deletion Glioma mate-paired sequence 20126413 chr9 71085132 71086291 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 71091703 73789535 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 71127324 71707207 LOH Normal High-resolution SNP genotyping 21211785 chr9 71127324 71709541 LOH Normal High-resolution SNP genotyping 21211785 chr9 71129307 71197190 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 71134061 71197191 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 71134061 71197191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 71159669 71669174 LOH Normal High-resolution SNP genotyping 21211785 chr9 71159669 71675620 LOH Normal High-resolution SNP genotyping 21211785 chr9 71181627 71181727 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71212329 71212437 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71225013 71238848 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 71231204 71231304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71235022 71477042 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 71235022 71477042 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7126912 7126997 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71284862 71316919 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 71284862 71316919 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 71287475 71288388 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 71288388 71309940 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 71289871 71308782 Copy number Bipolar disorder Illumina HumanHap550 BeadChip 19214233 chr9 71298540 71298612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71309940 71310097 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 7132883 7132983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71330263 71330363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71340896 71340996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71356110 71356142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71359764 73084099 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 7137912 7138007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71405667 71406029 Gain and loss Pancreatic cancer SNP array 17952125 chr9 71426464 71426614 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71448866 71449007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7152067 7152167 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71522874 71564696 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 71528046 71612962 Gain and loss Pancreatic cancer SNP array 17952125 chr9 71554426 71554526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71577316 71578070 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr9 71580815 72429153 LOH Normal High-resolution SNP genotyping 21211785 chr9 71599343 71625533 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 7161607 12713130 Deletion Cancer Affymetrix 250K Sty array 20164920 chr9 71621204 71621304 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71625551 71710968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 71625551 71710968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7165387 7472982 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 71689110 71689378 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 71702889 72625819 LOH Normal High-resolution SNP genotyping 21211785 chr9 71706922 71755663 Gain and loss Pancreatic cancer SNP array 17952125 chr9 71707207 72625819 LOH Normal High-resolution SNP genotyping 21211785 chr9 71746927 71747020 Gain and loss Pancreatic cancer SNP array 17952125 chr9 71746928 71747004 Gain and loss Pancreatic cancer SNP array 17952125 chr9 71755977 71827343 Gain and loss Pancreatic cancer SNP array 17952125 chr9 71805810 71806023 Gain and loss Pancreatic cancer SNP array 17952125 chr9 71838609 73108035 LOH Normal High-resolution SNP genotyping 21211785 chr9 71842991 71843131 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 7184521 21204877 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 71848340 72031708 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 71848340 72031708 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 71951587 71953862 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 71952289 71952581 Gain and loss Pancreatic cancer SNP array 17952125 chr9 71957870 71977559 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 71987910 71987950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 71993318 71993486 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 71993847 72096693 Gain and loss Pancreatic cancer SNP array 17952125 chr9 72021931 72022404 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 72025886 72025986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72026120 72026196 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72063698 72159609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 72063698 72159609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7211631 7211731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72118169 72123374 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 72122049 72140276 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 72144221 72144305 Gain and loss Pancreatic cancer SNP array 17952125 chr9 72189333 72219393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 72189333 72219393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 72198928 72209446 Gain and loss Pancreatic cancer SNP array 17952125 chr9 72217501 72219000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 72223501 72225500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 72286024 72286074 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72300847 72300922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72339769 73251640 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 72339769 73251640 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 72339785 73251640 Amplification Intellectual disability 100k SNP Array 21811512 chr9 72339785 73251640 Deletion Autism 1M single-nucleotide polymorphism arrays 21484199 chr9 72346301 72356300 Deletion Glioma mate-paired sequence 20126413 chr9 72371706 72371809 Gain and loss Pancreatic cancer SNP array 17952125 chr9 72383899 72384196 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 72383901 72384197 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 72394581 78138360 Gain Malignant melanoma BAC array CGH 17260012 chr9 72451139 72451236 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72456992 72457090 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72460831 72686106 Gain and loss Pancreatic cancer SNP array 17952125 chr9 7247919 7248919 Gain Renal cell carcinoma References 21215367 chr9 72480413 73064196 Deletion Autism PCR 21484199 chr9 72501744 72501844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72614711 72614820 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 72653418 72653733 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 72681334 72726997 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 72692075 72697041 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 72693629 72693729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72700000 73100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 72700000 73100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 72700000 79300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 72721682 72722246 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 72737169 72737269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72745142 72797523 Gain and loss Pancreatic cancer SNP array 17952125 chr9 72805363 72805439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72838320 72838734 Gain Normal 244K array 17666407 chr9 7288457 7322306 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 72938375 72938467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 72947486 72947544 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 72956698 73845777 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 72985197 73020153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 72993063 73941820 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 72996335 73014861 Gain and loss Pancreatic cancer SNP array 17952125 chr9 73046659 73273387 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 73084258 73128914 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 73100000 113900000 Gain Glioblastoma multiforme aCGH 21080181 chr9 73100000 113900000 Gain Invasive pancreatic ductal carcinoma array CGH 16982739 chr9 73100000 79300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 73100000 79300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 73100000 79300000 Gain Glioblastoma multiforme aCGH 21080181 chr9 73100000 80300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 7316206 7317206 Loss Chordoma References 21215367 chr9 73193969 73194069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73306558 73328638 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 73371332 73573228 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 73371332 73573228 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 73394337 73394637 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 73416485 73416648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73416633 73416864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73427304 73427336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73428584 73428684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73446479 73449957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 73457401 73461300 Deletion Glioma mate-paired sequence 20126413 chr9 73459206 73459486 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 73476710 73476810 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73532272 73532477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73532382 73532482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73532476 73532644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73544077 73544157 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 73545140 73576757 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 73560179 73588010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 7357100 7357234 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 73595441 73595528 Gain and loss Pancreatic cancer SNP array 17952125 chr9 7361804 7362116 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 73638780 73639737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 73667188 73715968 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 73667188 73715968 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 73707191 73707286 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 73716243 73787609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 73716243 73787609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 73716469 73716569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7374557 7375557 Gain Renal cell carcinoma References 21215367 chr9 73766076 73766289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 73811701 74834783 LOH Normal High-resolution SNP genotyping 21211785 chr9 73817382 73862958 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 73827781 79830447 Deletion Intellectual disability Array CGH 22102821 chr9 73856119 73865341 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 73856119 73865341 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 73871853 73884820 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 73886942 73887042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73895954 73896053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73912555 73913048 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 73923089 73923156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73923545 73923687 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 73941820 76718037 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 73954113 74058296 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 73954113 74058296 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74000000 108200000 Copy number T-cell acute lymphoblastic leukemia Array CGH 18185524 chr9 7402040 7427070 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 74080189 74080709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74092530 77838517 Gain Developmental delay affymetrix genechip 500K/SNP 6.41 array 21147756 chr9 74098327 74133336 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 74104487 74104571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74106871 74106928 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 74151497 74187807 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 74156161 74169983 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 74156161 74169983 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74160950 74907560 LOH Normal High-resolution SNP genotyping 21211785 chr9 74193060 74193160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 74211091 74645515 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 74211091 74645515 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74224436 74417045 Homozygous deletion Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 74250485 74250688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74275110 74275812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74276371 74276465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 74288397 74288497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 74312796 74312896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 74325688 74917532 LOH Normal High-resolution SNP genotyping 21211785 chr9 74325688 74971767 LOH Normal High-resolution SNP genotyping 21211785 chr9 74325688 74974055 LOH Normal High-resolution SNP genotyping 21211785 chr9 74331972 74332075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74341818 74531650 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74378155 74902686 LOH Normal High-resolution SNP genotyping 21211785 chr9 7438015 7438070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7439130 7439230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7439633 8322353 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 74460568 74460928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74491602 74536392 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 74542659 75867558 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 74545888 74546350 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7454833 7455833 Gain Renal cell carcinoma References 21215367 chr9 74566965 74732564 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74644365 74644611 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74644365 74644692 Gain and loss Pancreatic cancer SNP array 17952125 chr9 7467045 7468320 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 7467045 7468320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7467076 7468248 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74691976 74692068 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74691976 74692069 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74694205 74694305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 74702145 74702246 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74702145 74702251 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74705408 74757792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 74705408 74757792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7476951 7478376 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 7476951 7478376 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 7476951 7478376 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 74791432 74797356 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74807795 74807859 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 74827429 74872864 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74845823 74845922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 74847481 74861264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74859338 74859616 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 74861841 75411245 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 74892405 74932687 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74933013 74991642 Gain and loss Pancreatic cancer SNP array 17952125 chr9 74956600 74975127 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 74956601 74975129 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 74956601 74975129 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 74960488 77145594 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 7499155 7598374 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 7499155 7598374 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 7499155 7598374 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 74995705 74998254 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 75006363 76120847 LOH Normal High-resolution SNP genotyping 21211785 chr9 75025992 75026088 Gain and loss Pancreatic cancer SNP array 17952125 chr9 75025992 75026091 Gain and loss Pancreatic cancer SNP array 17952125 chr9 75042541 75042637 Gain and loss Pancreatic cancer SNP array 17952125 chr9 7505008 7505108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75073438 75073538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75095856 75095963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 75105764 75141014 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 75125426 75125526 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75210678 75216486 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 7523840 7523940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75261960 75262876 Gain and loss Pancreatic cancer SNP array 17952125 chr9 752747 855979 Deletion XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr9 75279114 75280809 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 75281908 76562458 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 75424504 75455742 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 75426581 75431839 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 75453564 75454593 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 75521377 75521471 Gain and loss Pancreatic cancer SNP array 17952125 chr9 755264 755364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75527223 75565513 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 75542726 75542986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75555709 75555816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 75560084 75560157 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75644542 75644642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75675923 75678027 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 75706125 75706225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75735175 76037889 Gain and loss Pancreatic cancer SNP array 17952125 chr9 75794496 75794596 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75818277 75818377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75852162 75852262 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75863723 75863823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7587868 7588374 Gain and loss Pancreatic cancer SNP array 17952125 chr9 7587868 7588374 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 75901758 75971780 Loss Normal 244K array 17666407 chr9 75957595 75957695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 75972110 76005927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 7606358 7638836 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 7606734 7606834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 760877 760977 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76095278 76095373 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76197604 76197796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76197794 76198000 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76210633 76210782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76224454 76224554 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76224536 76258657 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 76230004 76238987 Gain and loss Pancreatic cancer SNP array 17952125 chr9 76258491 76258591 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76301501 76304000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 76302072 76491937 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 76302072 76491937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76303700 76351884 Gain and loss Pancreatic cancer SNP array 17952125 chr9 76313209 77347450 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 76382189 76408875 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 76387165 76387265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76393752 76394250 Gain and loss Pancreatic cancer SNP array 17952125 chr9 7641255 9061636 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 76416203 76416504 Gain and loss Pancreatic cancer SNP array 17952125 chr9 76459021 76549951 Gain and loss Pancreatic cancer SNP array 17952125 chr9 76509078 76509370 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 76527230 76692830 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 76527231 76692830 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 76527231 76692830 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76595419 76903461 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 76604631 76604964 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76667737 76750557 Gain and loss Pancreatic cancer SNP array 17952125 chr9 7667997 7702218 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 76708062 76740129 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 76709393 76709761 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76718037 77929470 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 76726573 77667112 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 76731655 76903461 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 76739912 76740548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76752371 76757556 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76785754 76833159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 76785754 76833159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76848234 76848334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7684862 7684948 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 76858809 76892953 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 76858809 76892953 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76865935 76892953 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 76884892 76885143 Gain and loss Pancreatic cancer SNP array 17952125 chr9 76889014 76915888 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 76891163 77168162 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 76893275 76951585 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 76893275 76951585 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76937752 78462681 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr9 76986256 76986357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 76997845 77010906 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 77002807 77002913 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 77005846 77059051 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 77011107 77059051 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 77021915 77261953 Gain and loss Pancreatic cancer SNP array 17952125 chr9 77132893 77545740 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 77171766 77173088 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 77172311 78142517 Loss Prostate cancer Array CGH 18632612 chr9 77188384 77188533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 77194114 77201620 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 77195075 77198036 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 77206630 77207728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7720851 7733520 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 77243912 77244012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 77266560 103624313 Loss Wilms tumour 250K Genotyping Arrays 21544195 chr9 77268103 77492777 Gain and loss Pancreatic cancer SNP array 17952125 chr9 77313308 77313408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 77332651 77332751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 77342101 78151700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 77354109 77354209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 77358362 77358462 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 77380889 77815460 Copy number Acute lymphoblastic leukemia Affymetrix GeneChip Human Mapping 250K Nsp, 250K Sty, and 10K 2.0 arrays 18458336 chr9 77408550 77408635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7744692 7744992 Gain Chordoma References 21215367 chr9 7745569 7746569 Gain Chordoma References 21215367 chr9 7745598 7746598 Gain Chordoma References 21215367 chr9 7747212 7748212 Gain Chordoma References 21215367 chr9 77479673 77479776 Gain and loss Pancreatic cancer SNP array 17952125 chr9 77479673 77479779 Gain and loss Pancreatic cancer SNP array 17952125 chr9 77481643 77481737 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7749350 7749450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 77528958 77529308 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 77564754 77875746 Gain and loss Pancreatic cancer SNP array 17952125 chr9 77593776 77593876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 77634986 77869156 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 7764091 7765091 Gain Renal cell carcinoma References 21215367 chr9 77651737 83134614 LOH Melanoma Illumina Sentrix HumanHap300 genotyping BeadChip arrays 17363583 chr9 77654642 77691727 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 77666196 77666295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 77667112 79912955 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 77695406 78163658 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 77695406 78163658 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 77735373 77735473 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7776145 7894651 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 77778676 77778771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7786490 7789799 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 7786490 7789799 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 7786490 7789799 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7786505 7789734 Gain and loss Pancreatic cancer SNP array 17952125 chr9 77875690 79230717 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 7789607 12683402 Deletion Normal Arbitrated Peel-off 21527027 chr9 7789607 12683402 Deletion Normal GeneGISTIC 21527027 chr9 7789607 12683402 Deletion Normal Standard peel-off 21527027 chr9 77901974 77902191 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 77926547 77926858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 77929470 78271717 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 7796490 7799799 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 7796490 7799799 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 7796490 7799799 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 78009935 78010166 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78018 178421 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 78023686 78023982 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78042220 78042345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78063604 78063827 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78080565 78111110 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78091230 78092817 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78107601 78113600 Deletion Glioma mate-paired sequence 20126413 chr9 78109267 78111793 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 78111262 78111926 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr9 78133902 78159791 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 78141613 78174561 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78190253 78199264 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 78190253 78199264 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7819081 7834786 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 78203435 78204322 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78220651 78220751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78224670 78225367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78238783 78238883 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78250309 78250381 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 78263888 78312150 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 78263888 78312150 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78272323 78272423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78276082 78277804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 78281981 138256276 Gain Prostate cancer Array CGH 18632612 chr9 78282842 78282929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78306418 78306518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78312166 78315130 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 78314333 78314648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 78314465 103812699 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 78347781 78347941 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 78354018 78354504 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78376469 78376770 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78416111 78710823 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 78416112 78518458 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78455392 78455492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78471243 78471343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78548195 78548295 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78565097 78565197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78567145 78567245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78569173 78592285 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 78585807 78585869 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78585869 78585935 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78585969 78586040 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78586042 78586110 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78586121 78586187 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78587215 78587282 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78587630 78587892 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78587912 78587982 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78593130 78710823 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 78593130 78710823 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78628000 78710823 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 78705696 83900722 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 78727164 78727264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78735997 78736802 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78743501 78749800 Deletion Glioma mate-paired sequence 20126413 chr9 78745580 78747921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 78746701 78749156 Gain or loss Normal Birdsuite, version 1.5.2 22087296 chr9 78771579 78771675 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78775058 78775764 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78796835 78797844 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78818501 78828000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 78824391 78825689 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 78824391 78825689 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78828583 78828681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78845152 78845409 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 78845152 78845409 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78876836 78878031 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 78880881 78882168 Gain and loss Pancreatic cancer SNP array 17952125 chr9 78947731 78947813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 78958130 78967224 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 78960218 78967224 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 78960326 78967224 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 78960330 78967224 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chr9 78960870 78995065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 78982181 79222219 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 78982181 79222219 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 79016522 79016622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79049557 79082562 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 7906627 7938409 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 79200000 122500000 Gain Basal cell lymphoma Array CGH 16317097 chr9 79200000 122500000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr9 79200000 122500000 Gain Gastric cancer 5K BAC array CGH 17908304 chr9 792053 862364 Amplification Ependymoma Affymetrix U133 Plusv2 20639864 chr9 79228369 79453043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 79228369 79453043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 79235773 79236228 Gain and loss Pancreatic cancer SNP array 17952125 chr9 79300000 80300000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 79300000 80300000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 79300000 80300000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr9 79300000 83400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 79300907 102022250 Deletion T-cell prolymphocytic leukemia 250K single nucleotide polymorphism arrays 19278963 chr9 79378609 79378655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79384981 79385364 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7938539 7938629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79416432 79571212 Gain and loss Pancreatic cancer SNP array 17952125 chr9 79429773 79429873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79439939 79440045 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 79451281 79451511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79451303 79451403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79460315 79460415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79500644 79500744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79511878 79550122 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 79521458 79836012 Gain or loss Breast cancer - 20668451 chr9 79521458 79836012 Gain or loss Cancer - 20668451 chr9 79521458 79836012 Gain or loss Lung cancer - 20668451 chr9 79521458 79836012 Gain or loss Ovarian cancer - 20668451 chr9 79521458 79836012 Gain or loss Pancreas cancer - 20668451 chr9 79521458 79836012 Gain or loss Prostate cancer - 20668451 chr9 79525010 79836012 Deletion Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 79525020 79836012 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 79525020 79836012 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 79545883 79545952 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7955237 7956237 Loss Renal cell carcinoma References 21215367 chr9 79559986 79560086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79582956 79583172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79583169 79583285 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79602242 79602342 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79612807 79612880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 7961791 15107483 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 79620622 79912955 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 79745253 79745637 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 79795813 79829499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 7980862 7981862 Gain Renal cell carcinoma References 21215367 chr9 798864 798964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79934142 80339907 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 79955268 79955929 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 7996678 7996778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 79970201 79970432 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 79970201 79970514 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 79976872 80000746 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 79983952 79984248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 79984950 79985429 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 79992078 79992147 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 80023856 80024093 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80040810 80076619 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 80040811 80076416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8005209 8106186 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 80097142 103678698 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 80101879 80134827 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 80101879 80134827 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8012230 8012330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 80145235 80173568 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 80148201 82034345 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 80172028 80172128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 80175701 81744300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 80217751 80217858 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 80280358 80280458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 80296536 80386716 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 80300000 83400000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 80300000 83400000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 80300000 86100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 80300000 89600000 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr9 80300000 89600000 Loss Urothelial cell carcinoma FISH 18451213 chr9 80316278 81264935 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 80321448 80382627 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 80409115 80409178 Gain and loss Pancreatic cancer SNP array 17952125 chr9 80409178 80409244 Gain and loss Pancreatic cancer SNP array 17952125 chr9 80409278 80409349 Gain and loss Pancreatic cancer SNP array 17952125 chr9 80409351 80409419 Gain and loss Pancreatic cancer SNP array 17952125 chr9 80409430 80409496 Gain and loss Pancreatic cancer SNP array 17952125 chr9 80546135 80546201 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80546235 80546306 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80546308 80546376 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80546387 80546453 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80546456 80547480 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80547481 80547548 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80547896 80548373 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80548178 80548248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80663679 80663764 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 80822890 80931674 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 80841149 80842304 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 80861083 80861115 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 80913487 80929506 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 80915399 80930059 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 80915582 80915902 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 80915582 80915902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 8103232 8104232 Loss Chordoma References 21215367 chr9 81100000 91800000 Copy number Renal cell carcinoma MCG Whole Genome Array-4500 18765545 chr9 81163789 81204048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 81179081 81179181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81196014 81196768 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 81196014 81196768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 812146 991152 Deletion Non-small cell lung cancer MCG Whole Genome Array-4500 16651412 chr9 81217979 81223266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 81233003 81262402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 81264229 81264329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81305333 81305433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81341144 81341244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81376508 81531478 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 81376508 81531478 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 81376697 81531476 Gain or loss Breast cancer - 20668451 chr9 81376697 81531476 Gain or loss Cancer - 20668451 chr9 81376697 81531476 Gain or loss Lung cancer - 20668451 chr9 81376697 81531476 Gain or loss Ovarian cancer - 20668451 chr9 81376697 81531476 Gain or loss Pancreas cancer - 20668451 chr9 81376697 81531476 Gain or loss Prostate cancer - 20668451 chr9 81428157 81533150 Gain and loss Pancreatic cancer SNP array 17952125 chr9 81448451 81448680 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81449294 81449394 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81465411 81934094 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 81537894 81537994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81538040 81582806 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 81545247 81562339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 81568309 81568409 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81569712 81569818 Gain and loss Pancreatic cancer SNP array 17952125 chr9 81600001 81631814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 81633505 81633605 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81642882 81642967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81665309 81665652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 81667754 81671792 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 81667754 81671792 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 81733388 81733454 Gain and loss Pancreatic cancer SNP array 17952125 chr9 81733390 81733452 Gain and loss Pancreatic cancer SNP array 17952125 chr9 81765885 81768140 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 81766478 81766578 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81772952 81779467 Gain and loss Pancreatic cancer SNP array 17952125 chr9 81777425 81836006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 81823764 81823914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 81833241 81839720 Gain and loss Pancreatic cancer SNP array 17952125 chr9 81902296 81903226 Gain and loss Pancreatic cancer SNP array 17952125 chr9 81903692 81905199 Gain and loss Pancreatic cancer SNP array 17952125 chr9 81931806 81933036 Gain and loss Pancreatic cancer SNP array 17952125 chr9 82015563 82015663 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82025314 82025414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82034987 82035312 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 82034990 82035317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 82064808 82064908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82097418 82098971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 8212729 9092739 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chr9 82149844 82149944 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82161764 82165073 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82189166 82189266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82233663 83357013 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 82250315 82250415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82261476 82261883 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 82276385 82277367 Gain and loss Pancreatic cancer SNP array 17952125 chr9 82368306 82369365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82369444 82369510 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82369481 82369581 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82369544 82369615 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82369617 82369685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82369696 82369762 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82369767 82370697 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82370000 84440000 Loss Acute lymphoblastic leukemia - 21339820 chr9 82439443 82439543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 8245735 8252270 Deletion Normal Standard GISTIC 21527027 chr9 82529569 82529624 Gain and loss Pancreatic cancer SNP array 17952125 chr9 82538977 82539064 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82566432 82566532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82587072 82587501 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 82653013 83443247 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 82669381 82669481 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82763236 82763336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82796213 82841043 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 82820258 82820570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 82826878 82907646 Gain and loss Pancreatic cancer SNP array 17952125 chr9 82861225 82861325 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82903770 82903870 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 82908101 84982700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 82991678 82991778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 8304245 10602723 Copy number Lung cancer - 20668451 chr9 8304245 10602723 Copy number Schizophrenia Affymetrix 6.0 SNP array 20838587 chr9 8304245 10602723 Deletion Glioblastoma Agilent 244K, Affymetrix SNP6.0 and Illumina 550K 18772890 chr9 8304245 10602723 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chr9 8304245 10602723 Gain or loss Breast cancer - 20668451 chr9 8304245 10602723 Gain or loss Cancer - 20668451 chr9 8304245 10602723 Gain or loss Lung cancer - 20668451 chr9 8304245 10602723 Gain or loss Ovarian cancer - 20668451 chr9 8304245 10602723 Gain or loss Pancreas cancer - 20668451 chr9 8304245 10602723 Gain or loss Prostate cancer - 20668451 chr9 8304246 9008735 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 8304246 9008735 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 8304246 9008735 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8307268 8723949 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83087459 83382907 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83099382 83144366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 83104993 83138886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 83120410 83120476 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83120410 83120552 Gain and loss Pancreatic cancer SNP array 17952125 chr9 8314246 10612509 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 8314246 10612509 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 8314246 10612509 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 831501 833000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 83157737 83160512 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 83157738 83160503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 831690 959088 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 831690 959088 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 831690 959088 Gain and loss Pancreatic cancer SNP array 17952125 chr9 831690 959088 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 831690 959090 Deletion T-cell lymphomas Array-CGH 22341440 chr9 83192926 83193076 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 83197139 83197239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 83215014 83215365 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83252096 83285980 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 83293043 83293572 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83296742 83296842 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83319110 83319210 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 83388423 83493416 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 83388423 83493416 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83393371 83393434 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83400000 86100000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chr9 83400000 86100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 83400000 86100000 Deletion Cutaneous T-cell lymphoma SNP array 21881587 chr9 83400000 89600000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 83407460 83407560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 83407688 83407788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 83412399 83412992 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 83440913 83441053 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83440927 83441053 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83464846 83465158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83467516 83488592 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83504433 83552507 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83512101 83518500 Deletion Glioma mate-paired sequence 20126413 chr9 83514169 83516746 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 83523144 83523244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 83529978 83530084 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83581077 83581172 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 83583892 83662211 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83610731 83610816 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83626605 83626943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 83643578 83833156 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 83665157 83709996 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 83666893 83667224 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 83668590 83668896 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 83681167 83765896 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83688348 83722864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 83693653 83693720 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83718172 83724661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 83718172 83724661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83718273 83724661 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 83718273 83724661 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83733218 83739733 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83748290 83799986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 83748290 83799986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83773573 83776805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83782783 83801455 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83793507 83799986 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 83793507 83799986 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83812646 83825073 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83814217 83814326 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83825251 83848539 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83837401 83837500 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83837403 83837499 Gain and loss Pancreatic cancer SNP array 17952125 chr9 83859001 83868000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 83862377 83865381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83865480 83866824 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 83865480 83866824 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83890890 83893503 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 83900000 85200000 Deletion Epilepsy whole-genome oligonucleotide array CGH 20502679 chr9 83935486 83936362 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8394208 8394308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 83985777 83985871 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84001758 84203153 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 8408661 8408761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84100000 102600000 Gain Malignant peripheral nerve sheath tumor Array CGH 18522746 chr9 84100000 99300000 Gain Basal cell lymphoma Array CGH 16317097 chr9 84100000 99300000 Gain Diffuse large b-cell lymphoma Array CGH 16317097 chr9 84120465 84122274 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 84122646 84185154 Gain and loss Pancreatic cancer SNP array 17952125 chr9 84122668 84122758 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84138544 84910939 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 841690 969090 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 841690 969090 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 841690 969090 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 84215149 84215249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84223666 84224007 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 84231986 84232760 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 84235501 84238500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 84236628 84237639 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 84237800 84237869 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84240056 84240155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84252416 84252504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84273593 84273693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84274030 84274161 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chr9 84417587 85022947 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 84448580 84448898 Gain and loss Pancreatic cancer SNP array 17952125 chr9 84489835 84489890 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 84514247 84866963 Gain and loss Pancreatic cancer SNP array 17952125 chr9 8451714 8787533 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 84548802 84549527 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 84562724 84571840 Deletion Medulloblastoma Illumina SNP arrays 21163964 chr9 84566389 84574064 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 84595472 106721870 Deletion Gastrointestinal stromal cancer Affymetrix U133Plus, SNP array 6.10 20877625 chr9 84609978 84610078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84626810 84626910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84736691 84736821 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 8476501 8476593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84787136 84867863 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 84787144 84867863 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 84787144 84867863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 84794627 84794721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 84854255 84860327 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 84862897 84863216 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 84898886 84899138 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 84969107 87137689 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 84982701 85412800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 84988523 84988623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85020267 85041195 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 85035925 85035984 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 85047725 85343281 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 85047725 85343281 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85146373 85146468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 851501 852500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 85171971 85172071 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85212573 85212625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 85222899 85235897 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 85222899 85237854 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 85252130 85252230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85257008 85257108 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8525804 8525904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85260254 85260354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85353637 85353700 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85353708 85507991 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 85367117 85367635 Gain and loss Pancreatic cancer SNP array 17952125 chr9 85379310 85379408 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85391009 85586443 Gain and loss Pancreatic cancer SNP array 17952125 chr9 85401179 85401319 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85427785 85448858 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 85427786 85448858 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85430298 85456536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 85453798 85453897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85464699 85512773 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 85464699 85512773 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85466180 85658965 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 chr9 85467543 85467987 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85474851 85474951 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85480423 85480513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85482581 85482723 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr9 85482581 85482723 Loss Autism 1M Ailent CGH whole-genome array 21865298 chr9 85512001 85513500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 85522754 85522854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85544156 85622477 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 85544156 85622477 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85592000 85644521 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 85597775 85631016 Gain and loss Pancreatic cancer SNP array 17952125 chr9 85608001 85609750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 85641433 85726162 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 85641433 85726162 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85641434 85726162 Copy number Lung cancer - 20668451 chr9 85641434 85726162 Gain or loss Breast cancer - 20668451 chr9 85641434 85726162 Gain or loss Cancer - 20668451 chr9 85641434 85726162 Gain or loss Lung cancer - 20668451 chr9 85641434 85726162 Gain or loss Ovarian cancer - 20668451 chr9 85641434 85726162 Gain or loss Pancreas cancer - 20668451 chr9 85641434 85726162 Gain or loss Prostate cancer - 20668451 chr9 85651000 85679321 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 85660438 85693964 Gain and loss Pancreatic cancer SNP array 17952125 chr9 85704275 85707363 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 85743049 85761721 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 85743049 85761721 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85743373 85744184 Gain and loss Pancreatic cancer SNP array 17952125 chr9 85772912 85785339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 85772912 85785339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85774483 85774592 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85785517 85808805 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 85785517 85808805 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85785615 85866755 Gain and loss Pancreatic cancer SNP array 17952125 chr9 85797667 85797768 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 85870616 85944637 Gain and loss Pancreatic cancer SNP array 17952125 chr9 85876413 85876513 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85883712 85884120 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8588558 8589558 Loss Renal cell carcinoma References 21215367 chr9 85911997 85912097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85920010 85920110 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 85927113 85962481 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 85931281 85959618 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 85969401 87310300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 86002333 86015450 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 86030575 86032475 Gain and loss Pancreatic cancer SNP array 17952125 chr9 8605659 8610138 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 86065534 86065620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 86065973 86072499 Gain and loss Pancreatic cancer SNP array 17952125 chr9 86074448 86074535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 86082933 86145513 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 86082933 86145513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 86100000 113900000 Gain Malignant fibrous histiocytomas aCGH 21085701 chr9 86100000 89600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 86100000 89600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 86100000 89600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 86100000 93000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 86102892 86103115 Gain and loss Pancreatic cancer SNP array 17952125 chr9 86109019 86126998 Gain and loss Pancreatic cancer SNP array 17952125 chr9 86132428 86198932 Gain and loss Pancreatic cancer SNP array 17952125 chr9 86145833 86145925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 861594 862313 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 86193582 86853672 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 86202408 86225102 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 86219471 86220175 Gain and loss Pancreatic cancer SNP array 17952125 chr9 86252288 86252381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 86267411 86267597 Gain and loss Pancreatic cancer SNP array 17952125 chr9 8630848 8631662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 86323670 86323770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 86331001 86332500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 86356094 86391750 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 86383234 86383326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 86408852 86409160 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 86437156 87306893 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 8645531 8645778 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 8645762 8645980 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 86473285 86828325 Copy number Lung cancer - 20668451 chr9 86473285 86828325 Gain or loss Breast cancer - 20668451 chr9 86473285 86828325 Gain or loss Cancer - 20668451 chr9 86473285 86828325 Gain or loss Lung cancer - 20668451 chr9 86473285 86828325 Gain or loss Ovarian cancer - 20668451 chr9 86473285 86828325 Gain or loss Pancreas cancer - 20668451 chr9 86473285 86828325 Gain or loss Prostate cancer - 20668451 chr9 86473286 86828325 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 86473286 86828325 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 86535177 86535491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 86542428 86543141 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 86598567 86598667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 86694025 86696034 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 86790211 86791248 Gain and loss Pancreatic cancer SNP array 17952125 chr9 86809013 86843486 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 86847555 86847684 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 86854561 86886454 Gain and loss Pancreatic cancer SNP array 17952125 chr9 86856124 86857620 Gain and loss Pancreatic cancer SNP array 17952125 chr9 86962133 86962233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 86963101 86967900 Deletion Glioma mate-paired sequence 20126413 chr9 86964417 86964685 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8696602 8741414 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 8703276 8703898 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87037212 87838325 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 87066304 87066390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87091226 87091532 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 87100017 87100117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87108751 87108850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 8713276 8713893 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 8713276 8713893 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 8713276 8713893 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 87143098 87143198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87151056 87151557 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 87151056 87151557 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87155527 87155808 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87184632 87184677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87187898 87187986 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 87226636 87226726 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87248281 87654534 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chr9 87297314 87298829 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87328804 87328874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87328915 87328991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87342350 87553097 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87351275 87546709 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 87351275 87546709 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87362045 87376119 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chr9 87477720 87477756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87486763 87486863 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87487565 87487665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87491179 87491269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87558041 87591310 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 87558041 87591310 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87569844 87569929 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87570534 87575862 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87578512 87578612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87586096 87586422 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87586624 87586724 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87615999 87617448 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 87634198 87654248 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87663291 87665980 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 87689778 87691790 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87702572 87703525 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87703639 87704456 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87727326 87733366 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87739296 87741411 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87739616 87770886 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 87740354 87760266 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 87744454 87767010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 87745877 87827023 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 87745877 87827023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87756466 87760388 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 87760467 87786082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 87761708 87765738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 87779086 87779176 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87791001 89688500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 87800671 87800771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87810915 87819178 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87830876 87904903 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 87830876 87904903 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87831898 87845029 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 87842698 87842804 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87842700 87842804 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87844313 87844453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87858059 87858287 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chr9 87858127 87858194 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 87860769 87861265 Gain and loss Pancreatic cancer SNP array 17952125 chr9 878700 878782 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 87880620 89388052 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 87910501 87916000 Deletion Glioma mate-paired sequence 20126413 chr9 87911499 87918815 Gain Normal 244K array 17666407 chr9 87918566 87918602 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 87937386 87937586 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 87974101 87975033 Gain and loss Pancreatic cancer SNP array 17952125 chr9 87984547 88015774 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 87990841 87992741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88010788 88010888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 88012568 88032671 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 88025001 88064392 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 88025001 88064392 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88035309 88060296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88038436 88058343 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88040205 88063252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88063092 88063381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88063158 88063381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88069287 88087273 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 88069287 88087273 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88076394 88662738 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 88085243 88085305 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 88086575 88132681 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88092468 88159189 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 88092468 88159189 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88104185 88115832 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88179178 88180441 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88216673 88218041 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88218738 88218826 Gain and loss Pancreatic cancer SNP array 17952125 chr9 88227673 88227863 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88228571 88228671 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 88232888 88323161 Gain and loss Pancreatic cancer SNP array 17952125 chr9 88303075 88303159 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 88320197 88320297 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 88342601 88347600 Deletion Glioma mate-paired sequence 20126413 chr9 88352658 88387539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88379904 88415661 Gain and loss Pancreatic cancer SNP array 17952125 chr9 8838770 8839002 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 884197 884197 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 88431597 89241211 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 88478445 88508050 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88481928 88505920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 8855149 8862706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 8858177 9606646 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 8864309 8867953 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 88647729 88648093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 88652984 89066999 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 88677012 88677101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 8867751 8868751 Gain Renal cell carcinoma References 21215367 chr9 88707127 88740499 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88727382 88727482 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 88735780 88762903 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 88749098 88751924 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 88749098 88751924 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88758798 88773574 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 8878136 8878207 Gain and loss Pancreatic cancer SNP array 17952125 chr9 8878136 8878208 Gain and loss Pancreatic cancer SNP array 17952125 chr9 88793150 88793649 Loss Normal 244K array 17666407 chr9 88800347 89995944 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 88813194 88846859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88816516 88817886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88835465 88849478 Gain and loss Pancreatic cancer SNP array 17952125 chr9 88857625 89023236 Gain and loss Pancreatic cancer SNP array 17952125 chr9 88868351 89037204 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 88877582 88877652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 88889770 88889886 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88905478 88999890 Amplification or deletion Cancer Array CGH 17440070 chr9 8892033 38271438 Gain Developmental delay affymetrix genechip 500K/SNP 6.40 array 21147756 chr9 8893742 8893892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 88938336 88938434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 88953379 88964461 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 88953379 88964461 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 88988707 89033810 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 88988914 88989227 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 8899549 8899649 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89038855 89038922 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 89039433 89039522 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89065185 89065320 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89150360 89150444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89155667 89161171 Gain and loss Pancreatic cancer SNP array 17952125 chr9 89162990 89204108 Gain and loss Pancreatic cancer SNP array 17952125 chr9 89173256 89173356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89206070 89209120 Gain and loss Pancreatic cancer SNP array 17952125 chr9 892166 892744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 89221706 89342442 Gain and loss Pancreatic cancer SNP array 17952125 chr9 89228366 89228623 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8924024 10013871 Loss Oral cancer 105K CGH oligonucleotide array 21386901 chr9 89255402 89256192 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 89284480 89284799 Gain and loss Pancreatic cancer SNP array 17952125 chr9 89294033 89295122 Gain and loss Pancreatic cancer SNP array 17952125 chr9 89302616 89513363 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 89302616 89513363 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89330007 89330292 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 89330007 89330292 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89338576 89338676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 8934538 8935538 Loss Renal cell carcinoma References 21215367 chr9 89367671 89380717 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 89383530 89384253 Gain Normal 244K array 17666407 chr9 89393851 89397388 Loss Normal 244K array 17666407 chr9 89405331 89407383 Loss Normal 244K array 17666407 chr9 89408421 89408521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89414326 89421347 Loss Normal 244K array 17666407 chr9 89422771 89422866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89449482 89451017 Gain and loss Pancreatic cancer SNP array 17952125 chr9 89455152 89455252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89462501 89660000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 8949468 8949768 Gain Renal cell carcinoma References 21215367 chr9 8950004 8950104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 8950345 8950419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89530254 89536200 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 89530254 89536200 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89530793 89536204 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 89532793 89532852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89545968 89546688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89549636 89549728 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89563922 89664134 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 89563922 89664134 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89577650 89591619 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 89577650 89591619 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 8959529 8959629 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89600000 101600000 Deletion Biliary cancer Array CGH 19435499 chr9 89621200 89622698 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89631222 89641960 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89639185 89673172 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr9 89644000 98144400 Gain Prostate cancer Array CGH 18632612 chr9 89648887 89652049 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89660001 89688000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 89687591 89693634 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 89687592 89693632 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 89687592 89693632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89688001 89695000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 89695001 89741250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 89696625 89748134 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 89696625 89748974 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 8971000 8971085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89725589 89728240 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 89725589 89728240 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89741251 89744750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 89744751 89780000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 89749011 89749758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89751254 89751354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89764401 90143900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 89771178 89779487 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 89771183 89779487 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 89771183 89779487 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89780001 89929500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 89802964 89803070 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89820979 89821571 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89830592 91564592 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chr9 8985678 9004305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 89861898 89861998 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89871268 89872756 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89876800 89876900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89885590 89885690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 8990235 9000292 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 89904973 89905207 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 89905117 89905347 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 89914431 89914531 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 89914929 89945993 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chr9 89929501 89934500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 89934367 89935299 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89985405 89986182 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 89992470 89994937 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9000000 107200000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 9000000 14100000 Amplification small cell lung cancer Affymetrix SNP 6.0 array 21764851 chr9 9000000 14100000 Amplification with LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 9000000 14100000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 9000000 14100000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 9000000 14100000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 chr9 9000000 14100000 Microdeletion Cutaneous squamous cell carcinomas 250K Nsp SNP array 19131950 chr9 9000000 14200000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr9 9000000 14200000 Deletion Lung cancer Relied on a multipoint score function 16773561 chr9 9000000 14200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 9000000 14200000 Loss Colorectal cancer GeneChip Human Genome U133 plus 2 oligo-nucleotide microarray 16272173 chr9 9000000 14200000 Loss Cutaneous squamous cell carcinomas GeneChip Human Mapping 10K Xba or 250K Nsp assay 17420988 chr9 9000000 14200000 Loss Esophageal squamous carcinoma 32k Array CGH platform 18405350 chr9 9000000 14200000 Loss Gastric cancer Array CGH 16891809 chr9 9000000 14200000 Loss Mental retardation Array CGH 17847001 chr9 9000000 16600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 9000000 16600000 Deletion Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chr9 9000000 16600000 Gain Medulloblastoma SNP arrays 21979893 chr9 9000000 25500000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 9000000 28000000 Loss Pilocytic astrocytoma Affymetrix GeneChip HG_U133A 18670637 chr9 9000000 28100000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 9000000 28100000 Loss Acute lymphoblastic leukemia array CGH 17690704 chr9 9000000 33200000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 9000000 40200000 Deletion Melanoma correlated array comparative genomic hybridization (aCGH) 18172304 chr9 90018937 90019037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 90046601 90052600 Deletion Glioma mate-paired sequence 20126413 chr9 90048793 90050772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 90048804 90050783 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 90050000 90079025 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 90057912 90235017 Gain and loss Pancreatic cancer SNP array 17952125 chr9 90129225 90130075 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 90143901 91257100 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 90179004 90179092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 90193117 90283443 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 90193117 90283443 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 90215618 90216183 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 90231377 90231477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 90248293 90248393 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 90289191 90365991 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 90306239 90306336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 90339840 90380521 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 90339840 90380521 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 90371487 126889971 Substitutions and indels small cell lung cancer array-CGH 20016488 chr9 90371934 90379528 Indels Normal Affymetrix and Illumina arrays 20811451 chr9 90400000 102600000 Amplification Intracranial aneurysm Human 1 cDNA microarray slides 16715129 chr9 90400000 141213431 Deletion Cardiac fibroma FISH 18329553 chr9 90400000 91800000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 90429220 90429320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 90451668 90484662 Gain and loss Pancreatic cancer SNP array 17952125 chr9 90476915 90477768 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 90482093 90482412 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 90482465 90482536 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 90484233 90687380 Gain Retinoblastoma Array-CGH 19183342 chr9 90492562 90492662 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 90507962 90552900 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 90517946 90527969 Amplification or deletion Cancer Array CGH 17440070 chr9 90522494 91298114 LOH Normal High-resolution SNP genotyping 21211785 chr9 90581000 90605144 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 90584817 90585222 Gain and loss Pancreatic cancer SNP array 17952125 chr9 90597223 90597363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 90598303 90599101 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 90613288 90692980 Gain Stenocardia MACArray Karyo 43K BAC-chips 21860640 chr9 90613288 90692980 Gain Vasospasm MACArray Karyo 43K BAC-chips 21860640 chr9 90639777 91278677 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 90639777 91278677 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 90643625 90738024 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9064629 9064714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 90691815 90691878 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 90775626 90776076 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 90795598 90800875 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 90795598 90800875 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 90796182 90809744 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 90796182 90809744 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 90797689 90807998 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 9080876 9081312 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9080898 9081311 Gain and loss Pancreatic cancer SNP array 17952125 chr9 90817891 90983502 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 90817891 90983502 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 908351 944194 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 9084805 9178865 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr9 9090873 9091312 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 9090873 9091312 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 9090873 9091312 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 90918363 90921467 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 90959387 90959455 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91000000 93000000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 91000000 95600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 91000000 95600000 Deletion Medulloblastoma SNP arrays 21979893 chr9 91055671 91203750 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9107718 9107818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91093871 91109688 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 91095759 91095858 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91115001 91116500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 91115932 91121438 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 91115933 91121437 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91119608 91119707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91123232 91164381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 91123232 91164381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91165526 91168722 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91166501 91592500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 91173161 91173294 Gain and loss Pancreatic cancer SNP array 17952125 chr9 91181971 91284431 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chr9 91181972 91260688 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 91181972 91260688 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91238513 91354550 Duplication Normal Affymetrix 6.0 microarrays 20967226 chr9 9123942 9124011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 9124048 9124369 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 91244746 91245065 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91250884 91265517 Gain and loss Pancreatic cancer SNP array 17952125 chr9 91254293 91255484 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91257101 91699850 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 91276972 91277427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91288406 91288469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 91328982 91329082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91342383 91342483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91365867 91367795 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 91409748 91411283 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91423681 91423780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91427323 91427390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91441500 91441584 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91442083 91442168 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91443907 91444007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91470105 91470205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91486285 91505868 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 91523558 96858929 Copy number Mental retardation Array-CGH 21693067 chr9 91526474 91526564 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91564439 91791999 Gain and loss Pancreatic cancer SNP array 17952125 chr9 91566794 91566888 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91570199 91615293 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 91575850 91608200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 91607080 91607180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91650199 91661658 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 91650904 91689640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 91667889 91667989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91676536 91676636 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 9168137 10067180 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr9 91699851 91839000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 91705259 91705359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91721375 91721449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91800000 102600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 91800000 108200000 Loss Breast cancer Microarray-based CGH 17133270 chr9 91800000 93900000 Deletion Glioma Array CGH, FISH, 7300 real-time PCR system QReal-Time PCR 17123091 chr9 91800000 93900000 Loss Mantle cell lymphoma Array CGH 19029149 chr9 91808371 91809102 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 91851062 91851240 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 91872982 91957245 Gain and loss Pancreatic cancer SNP array 17952125 chr9 91883405 91884621 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 91930033 91969853 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 91946262 91947261 Gain and loss Pancreatic cancer SNP array 17952125 chr9 91951937 91952004 Gain and loss Pancreatic cancer SNP array 17952125 chr9 91952350 91952411 Gain and loss Pancreatic cancer SNP array 17952125 chr9 91977190 91977268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 91986924 91987023 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92018201 92018513 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 92028601 92030515 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92034287 92035243 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 92039889 92039989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92052180 92135532 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92066646 92100388 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 92082962 92083056 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92139196 92167393 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9215465 12265177 Deletion Acute myeloid leukemia - 21251322 chr9 92167777 92456990 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92202216 92234350 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 92225816 92246397 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92253070 92253118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92256093 92266115 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9226929 9227929 Gain Chordoma References 21215367 chr9 9227307 9228307 Loss Chordoma References 21215367 chr9 92273875 102774601 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chr9 92276936 92277027 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92277533 92277599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92279802 92279902 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92298050 92324343 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92321634 92489352 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 92335391 92377892 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9236598 9236791 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92381035 92381100 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92381100 92381161 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92381222 92381294 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92381296 92381363 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92381371 92381438 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92411934 92444928 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 92411934 92444928 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 92443421 92443525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92456400 92512104 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92458063 92894028 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 92475219 92475319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92492852 92492950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92518780 92519233 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92544628 92545482 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 92553208 92606638 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92553377 92554253 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 92594489 92627840 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 92603890 92698304 Gain or loss Breast cancer - 20668451 chr9 92603890 92698304 Gain or loss Cancer - 20668451 chr9 92603890 92698304 Gain or loss Lung cancer - 20668451 chr9 92603890 92698304 Gain or loss Ovarian cancer - 20668451 chr9 92603890 92698304 Gain or loss Pancreas cancer - 20668451 chr9 92603890 92698304 Gain or loss Prostate cancer - 20668451 chr9 92603891 92700652 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 92603891 92700652 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 92607423 92640946 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 92611763 93229134 LOH Normal High-resolution SNP genotyping 21211785 chr9 92651448 92680292 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92662811 92662915 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92687907 92719845 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92714001 92716500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 92739448 92739600 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr9 92750515 92750603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92755097 92763397 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92755461 92755543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92789437 92878069 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92797131 92797202 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9282859 9282959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92855705 92889274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 92863283 93568390 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 92874901 92895346 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 92875440 92875579 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 92881842 92892908 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 92881842 92895346 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 92884135 92895346 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 92900544 92926967 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92907458 92907558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92914038 92917351 Gain Normal 244K array 17666407 chr9 92923184 92923505 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 92938055 92955119 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9295161 9295244 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 92963335 92976125 Gain and loss Pancreatic cancer SNP array 17952125 chr9 92971684 92972148 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93000000 101600000 Copy number Basal cell nevus syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chr9 93000000 101600000 Deletion Mental retardation References 19951919 chr9 93000000 101600000 Gain Retinoblastoma methylation specific multiplex ligation probe amplification analysis 22278416 chr9 93000000 101600000 Microdeletion 9q22.3 microdeletion syndrome MLPA 22283845 chr9 93000000 125800000 Deletion Acute lymphoblastic leukemia BAC clone 21980252 chr9 93000000 140273252 Gain Medulloblastoma SNP arrays 21979893 chr9 93000000 95600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 93000000 95600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 93000000 98200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 93015926 93163996 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93026767 93162409 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93057327 93057523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93057424 93057524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93057510 93057730 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93130377 93130477 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93142982 98762639 Gain Normal Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chr9 93187982 93188303 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 93194343 93194544 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93202744 93421390 Amplification or deletion Cancer Array CGH 17440070 chr9 93211148 93225965 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 93211148 93225965 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93217393 93217470 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93217393 93217504 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93259692 93259801 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93259692 93259802 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93288305 93459139 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 93288338 93295429 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93293728 93407944 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9335062 10676721 Deletion Myelodysplastic syndrome - 21251322 chr9 93357001 94571400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 93365194 93752265 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 93365194 93752265 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93390423 93392146 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 934029 934129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93413446 93414595 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93416389 93416468 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93418585 93521421 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93435622 93442740 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 93442089 93443266 Gain Normal Birdsuite, version 1.5.2 22087296 chr9 93442623 93442728 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93483935 94318293 LOH Normal High-resolution SNP genotyping 21211785 chr9 93516598 93516651 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 93559468 93559527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93575487 93583884 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 93599134 93600814 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chr9 93603194 93605944 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 93639723 93672990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 93680045 93680123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93707033 93707133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93725186 93725286 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 9373024 9374024 Loss Renal cell carcinoma References 21215367 chr9 93771107 94318293 LOH Normal High-resolution SNP genotyping 21211785 chr9 93793466 93797208 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93796760 93796860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93805113 93805195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93808165 93808647 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93829601 93829927 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93833247 93917511 Amplification Intellectual disability 100k SNP Array 21811512 chr9 93833248 93917511 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 93833248 93917511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9385052 9418901 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 93872631 93951691 Gain and loss Pancreatic cancer SNP array 17952125 chr9 93887323 93887423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93900000 130300000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 93900000 96600000 Deletion Oral squamous cell carcinoma Affymetrix GeneChip Mapping 10K array 17134496 chr9 9390582 9390682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93906528 93907632 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93908787 93908856 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 93910961 93911092 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93911116 93912198 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93912203 93912270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93912271 93912617 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93912616 93912677 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93912678 93912971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93912968 93914000 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93920000 103960000 Loss Acute lymphoblastic leukemia - 21339820 chr9 93934501 93940732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93934501 93945000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 93934936 93940732 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 93943569 93961711 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 93945001 93974000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 93947190 93947289 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93973795 93975597 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93974001 93975500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 93977501 93984500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 93979281 93991641 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 93979281 93991641 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 93990001 93992500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 9399606 9631169 Loss Autism qPCR 20531469 chr9 94004340 94004405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94012446 94095819 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94012446 94095819 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94017787 94017880 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94018183 94018271 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94018184 94018270 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94020663 94020765 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94020671 94020757 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94055738 94062065 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 94070387 94070484 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94075315 94075416 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94087530 94087593 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94099461 94127659 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94099461 94127659 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9410000 10400000 Deletion Lung adenocarcinoma Affymetrix 500K Human Mapping Array 17982442 chr9 94101165 94143279 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94119213 94119293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94127561 94417258 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 94128043 94417267 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94128043 94417267 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94141761 94143766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9415137 17868117 LOH Pancreatic cancer 250K Affymetrix SNP Mapping arrays 21811587 chr9 9415390 9416390 Gain Renal cell carcinoma References 21215367 chr9 9415461 9415558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94160039 94167361 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94178000 94201952 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 94186070 94206758 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94186070 94206758 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94187846 94187846 Copy number Prostate cancer Illumina GA II sequencer 21307934 chr9 94216359 94226381 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94216359 94226381 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94254688 94254788 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94258308 94284609 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94258308 94284609 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94265147 94295767 Gain Normal 244K array 17666407 chr9 94271026 94302750 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94286724 94286824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94295657 94338158 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94295657 94338158 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94301071 94301352 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9432060 9432294 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9432060 9432352 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9432060 9432367 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94341156 94341287 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94341366 94341427 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94341488 94341560 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94341562 94341629 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94341637 94341704 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94349575 94349680 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94349575 94349681 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94367953 94790938 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chr9 94400560 94435630 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94415287 94472368 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94415287 94472368 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94415600 94590889 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 9441998 9442310 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 9441998 9442310 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 9441998 9442310 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 94426253 94426353 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94435025 94710006 Duplication Acute promyelocytic leukemia GeneChip Human mapping 50K or 250K microarray 19109227 chr9 94437001 94517000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94444978 94481358 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94473904 94655715 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 94479046 94479511 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94513466 94566919 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94513466 94566919 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94517001 94532000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94520479 94520579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94530656 94530734 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94532001 94610000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94546332 94546432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94568538 94928995 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94579562 94593940 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chr9 94610001 94612000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94611301 94636184 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94623077 94623181 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94638929 94639804 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94648173 94680111 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94648173 94680111 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94657314 94657414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94667461 94667561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94674303 94674561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 94695771 94696608 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94696501 94699500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94698268 94698492 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94699501 94811500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94715259 94723663 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94716531 94716631 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94749554 94838339 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94749554 94838339 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94811501 94843500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94843501 94909500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94849586 96389449 LOH Normal High-resolution SNP genotyping 21211785 chr9 94851695 94852485 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 94860810 94887233 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94898248 94915386 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94898248 94915386 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94898270 94915386 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 94903551 95119536 Copy number Lung cancer paired-end sequencing 18438408 chr9 94909501 94946500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94923601 94936391 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94923601 94936391 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 94925601 96013500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94927045 94927141 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94927282 94927378 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94927858 94927925 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94938835 94938925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94940892 95159539 Gain and loss Pancreatic cancer SNP array 17952125 chr9 94942698 94942798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 94946501 94984000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94959410 95718950 LOH Normal High-resolution SNP genotyping 21211785 chr9 94984001 95071000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 94987032 95122675 Copy number Lung cancer - 20668451 chr9 94987032 95122675 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 94987032 95122675 Gain or loss Breast cancer - 20668451 chr9 94987032 95122675 Gain or loss Cancer - 20668451 chr9 94987032 95122675 Gain or loss Lung cancer - 20668451 chr9 94987032 95122675 Gain or loss Ovarian cancer - 20668451 chr9 94987032 95122675 Gain or loss Pancreas cancer - 20668451 chr9 94987032 95122675 Gain or loss Prostate cancer - 20668451 chr9 94987033 95122675 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 94987033 95122675 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95014332 95014435 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95090501 95128000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 95120302 95148517 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95134646 95136296 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95135426 128664691 Copy number Lung cancer paired-end sequencing 18438408 chr9 95177659 95177766 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95213051 95402627 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 95219958 95220069 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9524063 9675303 Deletion Gastric cancer Affymetrix SNP 6.0 arrays 22315472 chr9 95248604 95254812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 95248604 95254812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95253480 95253552 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 95253994 95368218 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 95253994 95368218 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95285249 95350198 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95368501 95406500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 95378256 95378356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 95378730 95481690 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 95378730 95481690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9539025 9539125 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 95402889 95402994 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95421001 95484500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 95429713 95429772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 95431553 95431653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 95433765 95598231 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 95484501 95696000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 95508450 95511185 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 95508450 95511185 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chr9 95510176 95511285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 95539234 95543145 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 95539982 95542863 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 95539984 95542836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 95600000 101600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 95600000 101600000 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 95600000 98200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 95600000 98200000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 95600000 98200000 Duplication developmental delay Array CGH 18830227 chr9 95600000 98200000 Duplication Microcephaly Array CGH 18830227 chr9 95614160 95616564 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95696001 95724500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 95701741 95701905 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95704636 97126787 LOH Normal High-resolution SNP genotyping 21211785 chr9 95717012 95717260 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95717381 95717791 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95717980 95856400 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95724501 95749500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 95746842 95746930 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95746843 95746947 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95749501 95771500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 95753730 95757474 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 95753730 95757474 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95770167 95770418 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 95770167 95770418 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 95817029 95839477 Amplification or deletion Cancer Array CGH 17440070 chr9 95832897 95911957 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 95832897 95911957 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95840133 95840448 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95845270 95845350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 95877827 95877905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 95933206 95967041 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 95937048 95943748 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95940542 95974410 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 95944918 95945011 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95944919 95945011 Gain and loss Pancreatic cancer SNP array 17952125 chr9 95948675 96451584 LOH Normal High-resolution SNP genotyping 21211785 chr9 959501 968000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 95978060 95978139 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95978450 95978536 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95980937 95981023 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 95987844 95989693 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96035581 96035682 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96047796 96047859 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96059068 96059153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96060259 96229878 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 96061399 96105106 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 96061399 96105106 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96067655 96067755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96077144 96143989 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96081967 96082052 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96089808 96090651 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96098053 96098156 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96107363 96141920 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 96117751 96128500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 96120299 96130747 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96140453 96140843 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9614531 25521498 Copy number Melanoma Affymetrix SNP 6.0 array 22183965 chr9 96162544 96225492 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96176654 96263022 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 96176654 96263022 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96223483 96223583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96229791 96260224 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96292038 96332342 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96297147 96297247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96298378 96314982 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96309841 96309947 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96332078 96461667 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96332721 96333045 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 96332728 96333052 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 96336827 96336922 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96355001 96357000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 96360826 96395896 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 96360826 96395896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96389487 96884334 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 96405237 96442352 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 96405244 96441624 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 96405244 96441624 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96427224 96427224 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chr9 96458174 96519926 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96461743 96461826 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96463692 96463804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 96470354 96470443 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96483596 96497118 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96502353 96505322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 96528804 96889261 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 96528804 96889261 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96596419 96596519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96597702 96619883 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96600000 99300000 Copy number Effusion lymphoma Real-time QPCR 18079361 chr9 96628342 96673523 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 96659760 96694909 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96660693 96660729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96661380 96661480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96672596 96672676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96688 5844791 Copy number Lung cancer paired-end sequencing 18438408 chr9 966963 981732 Duplication Amyotrophic lateral sclerosis Quantitative PCR 20685689 chr9 966963 981732 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chr9 966964 981732 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chr9 966964 981732 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 966964 981732 Deletion T-cell lymphomas Array-CGH 22341440 chr9 966964 981732 Gain and loss Pancreatic cancer SNP array 17952125 chr9 966964 981732 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96727525 96727625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 9672987 9673987 Loss Chordoma References 21215367 chr9 96770668 96781433 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96788001 96800734 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96801780 96836822 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 96874494 96881147 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96887311 96887407 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96887548 96887644 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96888124 96888191 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96891001 96894500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 96899013 96948852 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 96901156 97119812 Gain or loss Breast cancer - 20668451 chr9 96901156 97119812 Gain or loss Cancer - 20668451 chr9 96901156 97119812 Gain or loss Lung cancer - 20668451 chr9 96901156 97119812 Gain or loss Ovarian cancer - 20668451 chr9 96901156 97119812 Gain or loss Pancreas cancer - 20668451 chr9 96901156 97119812 Gain or loss Prostate cancer - 20668451 chr9 96901158 97119812 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 96901158 97119812 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96909586 96910465 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96922000 96948367 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 96925624 96925971 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 96929375 96929416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 96930831 96937083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 96963496 96964273 Gain and loss Pancreatic cancer SNP array 17952125 chr9 96974598 96974701 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9698544 9698688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97034761 97034865 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97040140 97041348 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97042000 97063348 Duplication Non-syndromic sensorineural hearing loss References 19212409 chr9 9705743 9855816 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 97080334 97219124 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97096351 97097105 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97100000 109676000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chr9 9710531 9710563 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97120587 97286003 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 97170096 97284468 Gain Stenocardia MACArray Karyo 44K BAC-chips 21860640 chr9 97170096 97284468 Gain Vasospasm MACArray Karyo 44K BAC-chips 21860640 chr9 97178 38747836 Copy number Lung cancer paired-end sequencing 18438408 chr9 97215222 97215620 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97234496 97234964 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97245083 97319068 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 97245083 97319068 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97245084 97319068 Gain or loss Breast cancer - 20668451 chr9 97245084 97319068 Gain or loss Cancer - 20668451 chr9 97245084 97319068 Gain or loss Lung cancer - 20668451 chr9 97245084 97319068 Gain or loss Ovarian cancer - 20668451 chr9 97245084 97319068 Gain or loss Pancreas cancer - 20668451 chr9 97245084 97319068 Gain or loss Prostate cancer - 20668451 chr9 97253863 97337953 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97305831 97306159 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 97314140 97314256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97314306 97314411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97329101 97809800 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 97334205 97334287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97339177 97339277 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97343476 97443085 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97349064 97349148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97379794 98032498 Deletion Cancer Affymetrix SNP6.0 arrays 20164919 chr9 97441924 97475182 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97455015 97455369 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97459759 98425723 Deletion Acute lymphoblastic leukemia Affymetrix 50K/250K SNP arrays 20435627 chr9 97475463 97513466 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97475477 97475577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97516747 97539194 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97520390 97520422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97540964 97542432 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97561303 97677583 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97578047 97578147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97598676 98353714 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 97623563 97784334 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 97655813 97700589 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 97672387 97678079 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97677721 97770942 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 97677721 97770942 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97695245 97696850 Gain and loss Pancreatic cancer SNP array 17952125 chr9 976964 991732 Indels Autism Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 976964 991732 Indels Epilepsy Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 976964 991732 Indels Mental retardation Agilent 244K,Agilent Feature Extraction 9.1,CGH Analytics 3.4 20858261 chr9 97696892 97696992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97707108 97707223 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97720239 97720803 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97746327 97764407 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97757527 97757630 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97757527 97757631 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97768630 97786689 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97772706 97774767 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97774970 97816670 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 97774970 97816670 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97800141 97800233 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 9780222 9786577 Deletion Nasopharyngeal cancer PennCNV 20548289 chr9 97809801 98113400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 97825393 97857268 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9782586 9782686 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97861025 97861122 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97866016 97866078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97867019 97867117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97868331 99371560 LOH Normal - 20944671 chr9 97874068 97874171 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9789476 12429999 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chr9 97898568 97924912 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97905182 97905277 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97920224 97953912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 97926192 97961035 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97948128 97949962 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 97966033 98034477 Gain and loss Pancreatic cancer SNP array 17952125 chr9 97967937 98009011 Amplification or deletion Cancer Array CGH 17440070 chr9 97972651 97972751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97974277 97974377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 97975176 99202582 LOH Normal High-resolution SNP genotyping 21211785 chr9 98001284 98001384 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98012341 98012441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98013106 99345803 LOH Normal High-resolution SNP genotyping 21211785 chr9 98037409 98104255 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 98037410 98104255 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98037410 98104255 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98040868 98098249 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98058319 98058422 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98102404 98102741 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 98113401 99808500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 98122834 98185797 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98122834 98185797 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98129921 98551034 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98132427 99345803 LOH Normal High-resolution SNP genotyping 21211785 chr9 98176012 98177513 Loss Non-syndromic sensorineural hearing loss oligonucleotide microarray 15273396 chr9 98190057 98220490 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98190057 98220490 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98200000 101600000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 98200000 101600000 Deletion without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 98200000 101600000 Gain Glioblastoma multiforme aCGH 21080181 chr9 98200000 101600000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chr9 98200000 107200000 Amplification without LOH Myelofibrosis Genome-Wide Human SNP Array 6.0 22110671 chr9 98200000 107200000 Deletion Medulloblastoma SNP arrays 21979893 chr9 98205263 98279247 Loss Cardiac fibroma FISH 18329553 chr9 98209387 98209896 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98211857 98211957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98252235 98293439 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98252235 98293439 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98267634 98267956 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr9 98290872 98324537 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 9829524 9887920 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 98298390 98421933 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98298390 98421933 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98315879 98346904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 98337812 98337898 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 9837864 9971069 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chr9 98387926 98422366 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 9839207 27863525 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chr9 98435772 98436589 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 98436189 98436721 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 98443355 98457420 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98443355 98457420 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98448943 98449882 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98527993 98529270 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98531217 98531690 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98532734 98532834 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98557968 98580159 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98557968 98580159 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98573166 98619263 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98573765 98573865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98619094 98655175 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98619094 98655175 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98631795 98632520 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98644256 98794171 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 98649536 98690929 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98665650 98665750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98696578 98696735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98697871 98731759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 98700200 98729161 Copy number Normal Birdsuite, version 1.5.2 22087296 chr9 98700200 98729161 Loss Normal Birdsuite, version 1.5.2 22087296 chr9 98713138 98713998 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98721031 98721421 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98721960 98744393 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98721960 98744393 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98736751 98743000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 98744783 98745226 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 98751014 98815683 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98751014 98815683 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98755054 98755098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98757180 98757558 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98801783 98801868 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98804423 98804523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98807812 98852808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 98834760 98841413 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98834760 98841413 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98869837 98870731 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98878001 98881000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 98878349 98879949 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98895797 98896741 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98922778 99098674 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 98923762 98924539 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98932501 98936000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 98940965 98944083 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 98946967 98991862 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98955001 98957500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 98960867 98960967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 98982931 100739942 Amplification Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 98987677 98987803 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98987714 98987802 Gain and loss Pancreatic cancer SNP array 17952125 chr9 98995027 98995131 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98998 334508 Loss Autism qPCR 20531469 chr9 98998 3682923 Loss Autism qPCR 20531469 chr9 98999356 99002043 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 98999356 99002043 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 98999357 99001731 Duplication Non-syndromic sensorineural hearing loss FISH, qPCR and array CGH 21030649 chr9 99023001 99024500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 99027417 99027703 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99040599 99179390 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 99040600 99179390 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99040600 99179390 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99058263 99063779 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99064125 99072455 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99102139 99102238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 99125859 99126181 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99125860 99126096 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99146949 99148448 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99165657 99165784 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 991863 991963 Gain and loss Pancreatic cancer SNP array 17952125 chr9 991863 991963 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99188001 99191500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 99194762 99195230 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99202582 99708949 LOH Normal High-resolution SNP genotyping 21211785 chr9 99214123 99298222 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99214123 99298222 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99270898 99449952 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 99277059 99322159 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 9928692 9929692 Loss Renal cell carcinoma References 21215367 chr9 9929564 9930564 Gain Renal cell carcinoma References 21215367 chr9 99300000 102600000 Loss Mantle cell lymphoma Array CGH 19029149 chr9 99303741 99403844 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chr9 99303742 99403357 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99303742 99403357 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99332653 99359817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 9934487 10004150 Copy number loss Normal High-resolution SNP genotyping 21211785 chr9 99372853 99372935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 99390567 99425104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chr9 99399582 99944739 LOH Normal High-resolution SNP genotyping 21211785 chr9 99402183 99435783 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99402183 99435783 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9940429 9940758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 99420025 101229950 Deletion Normal Affymetrix 50K Xba 240 GeneChip Human Mapping array 21744140 chr9 99428271 99429644 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chr9 99435526 99475851 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99435526 99475851 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9944183 9944283 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 99477011 99499512 Gain or loss Breast cancer - 20668451 chr9 99477011 99499512 Gain or loss Cancer - 20668451 chr9 99477011 99499512 Gain or loss Lung cancer - 20668451 chr9 99477011 99499512 Gain or loss Ovarian cancer - 20668451 chr9 99477011 99499512 Gain or loss Pancreas cancer - 20668451 chr9 99477011 99499512 Gain or loss Prostate cancer - 20668451 chr9 99477013 99499512 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99477013 99499512 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99501258 99502842 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99501258 99502842 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99538189 99538289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 99548194 99709828 Deletion overgrowth syndrome array-CGH,fluorescent in situ hybridisation, 16570072 chr9 99579755 99580130 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 99648501 99657500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 99655358 99658807 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99655358 99658807 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99663692 99708728 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99706593 99724673 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99706593 99724673 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99715366 99718804 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chr9 99717793 99717899 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99728894 99746959 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99728894 99746959 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9972901 9978400 Deletion Glioma mate-paired sequence 20126413 chr9 99748521 99812176 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99785309 99818045 Deletion Lung adenocarcinoma SNP 6.0 arrays 21935476 chr9 99785310 99818046 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99785310 99818046 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99796713 99796924 Gain Autism 1M Ailent CGH whole-genome array 21865298 chr9 99800880 99801209 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 99801105 99801164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 99808501 99960300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 99821016 99940813 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99824491 99845467 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chr9 99834333 99834438 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99858842 99885178 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99858842 99885178 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 9985938 10020458 Het Attention deficit hyperactivity disorder Illumina Infinium II HumanHap550 BeadChip 19546859 chr9 99871395 99921309 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99871395 99921309 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99910846 99910896 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 99926299 99994743 Copy number Breast cancer Affymetrix SNP 6.0 22522925 chr9 99926299 99994743 Gain or loss Breast cancer Affymetrix SNP 6.0 22522925 chr9 99929001 99937500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 99937501 99993000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 99941066 100142981 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99944396 99944676 Gain and loss Pancreatic cancer SNP array 17952125 chr9 9995346 9995446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chr9 99958592 99959326 Gain and loss Pancreatic cancer SNP array 17952125 chr9 99960301 100263900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chr9 99962892 99962950 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chr9 99993001 100013000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrBP1 4 0 Deletion Angelman syndrome microarray based comparative genomic hybridisation (array CGH) assay 16183798 chrBP2 8 0 Deletion Angelman syndrome microarray based comparative genomic hybridisation (array CGH) assay 16183798 chrCYFIP1 15 20444124 Deletion Angelman syndrome microarray based comparative genomic hybridisation (array CGH) assay 16183798 chrGCP5 15 20384835 Deletion Angelman syndrome microarray based comparative genomic hybridisation (array CGH) assay 16183798 chrmtDNA 0 0 Deletion mitochondrial myopathy - 16815877 chrmtDNA 11300 13651 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 11300 14001 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 1 16569 Copy number Astheno-teratozoospermia syndrome Fluorescent PCR 17339235 chrmtDNA 1 16569 Copy number Glioblastoma multiforme semiquantitative PCR 20870728 chrmtDNA 1 16569 Copy number Metabolic syndrome Gentra Puregene DNA kit 21844659 chrmtDNA 1 16569 Copy number Mitochondrial encephalomyopathy ABI PRISM 7500 real-time PCR system 21483760 chrmtDNA 1 16569 Copy number Obesity RT-PCR 17575086 chrmtDNA 1 16569 Deletion Autism - 21119085 chrmtDNA 14050 14200 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 14050 16521 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 14200 16521 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 15955 16521 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 195 1211 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 195 6528 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 195 8093 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 3317 6528 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 3317 6754 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 3614 6528 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 3614 8093 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 4127 6528 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 4127 6931 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 5822 6528 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 9343 9390 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrmtDNA 9450 14001 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrNF1 17 26446120 Deletion Acute myeloid leukemia array-CGH,Microarray BAC,fluorescence in situ hybridization(FISH), 16864856 chrRUNX1 21 35081967 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chrTIAM1 21 31412606 Gain Acute lymphoblastic leukemia Affymetrix 500 k mapping array 17443227 chrX 0 0 Gain or loss Breast cancer - 20668451 chrX 0 0 Gain or loss Cancer - 20668451 chrX 0 0 Gain or loss Lung cancer - 20668451 chrX 0 0 Gain or loss Ovarian cancer - 20668451 chrX 0 0 Gain or loss Pancreas cancer - 20668451 chrX 0 0 Gain or loss Prostate cancer - 20668451 chrX 0 0 Loss Cervical cancer array CGH 21063398 chrX 100018344 100018673 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100026193 100060831 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 100034824 100049631 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100050484 100103480 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 100055936 100100942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 100070481 100113247 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10007895 10007995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 10008567 10040763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 100103480 101651263 LOH Normal High-resolution SNP genotyping 21211785 chrX 100133383 100223321 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 100140008 100157498 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100162190 100224121 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100183687 100183755 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 100281130 100322062 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100329387 100354190 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100350054 100350144 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100375001 100377000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 100377001 100631000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 100386537 100386639 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100386537 100386640 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100401723 100402069 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100406796 100409851 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100410000 101240000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 100410580 100447327 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100419754 102549151 LOH Normal High-resolution SNP genotyping 21211785 chrX 100452089 100457068 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100458942 100469096 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100469428 100475263 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100481865 109781705 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 100491097 100532426 Gain or loss Breast cancer - 20668451 chrX 100491097 100532426 Gain or loss Cancer - 20668451 chrX 100491097 100532426 Gain or loss Lung cancer - 20668451 chrX 100491097 100532426 Gain or loss Ovarian cancer - 20668451 chrX 100491097 100532426 Gain or loss Pancreas cancer - 20668451 chrX 100491097 100532426 Gain or loss Prostate cancer - 20668451 chrX 100548750 100559321 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100584873 100659666 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 100593790 100596679 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100611659 100615816 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100624551 100624651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 100631001 100636000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 100636001 100798000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 100659666 101474687 LOH Normal High-resolution SNP genotyping 21211785 chrX 100659666 102220107 LOH Normal High-resolution SNP genotyping 21211785 chrX 100659666 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 100659666 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 100659666 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 100676261 100679136 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100684265 100688976 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100695139 100695245 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100716417 100720980 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100752698 100752802 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100764775 100769487 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 100798001 100801500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 100801501 100952500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 100802617 100865331 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 100840120 100841631 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100861831 100943177 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 100862300 100864211 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 100863522 100908221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 100864007 100864039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 100864063 100892270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 10087306 10090343 Copy number Autism exome sequencing 22495311 chrX 100875318 100888282 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 100893230 100918694 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100904209 100943177 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 100909782 100944764 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 100937902 104653516 LOH Normal High-resolution SNP genotyping 21211785 chrX 100941990 100954423 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 100942751 100969445 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 100943177 111208689 LOH Normal High-resolution SNP genotyping 21211785 chrX 100943775 100979751 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100952501 100956000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 100956001 101184500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 100969445 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 100972672 100973191 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100976708 100976813 Gain and loss Pancreatic cancer SNP array 17952125 chrX 100978089 100978175 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 100985711 100985811 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 101041914 101041965 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 101049823 101082893 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 101070163 101070230 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101071403 101071473 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101072431 101072499 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101112690 101112790 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 101145956 101146036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 101184501 101186500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101186501 101266500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101186860 101188826 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101214830 101217080 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101235590 101287930 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101266501 101268500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101266713 101516758 Deletion Mental retardation - 20877625 chrX 101268501 101385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101281588 101284044 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 101296213 101446624 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101297252 101469288 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101298979 101474687 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101300408 101480487 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101303025 101481054 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101320654 154582692 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 101331897 101482385 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101366409 101486498 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101368129 101387778 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101385001 101482000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101393713 101393813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 101399004 101515462 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101404534 101556005 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chrX 101406537 101406569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 101421462 101441159 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10142389 10154372 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 101446624 102976130 LOH Normal High-resolution SNP genotyping 21211785 chrX 101446624 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 101446624 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 101446624 118391678 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 101446624 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 101446624 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 101446624 134674948 LOH Normal High-resolution SNP genotyping 21211785 chrX 101446624 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 101469288 106774883 LOH Normal High-resolution SNP genotyping 21211785 chrX 101474687 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 101480487 106746489 LOH Normal High-resolution SNP genotyping 21211785 chrX 101480487 106774883 LOH Normal High-resolution SNP genotyping 21211785 chrX 101480487 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 101480487 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 101480487 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 101481054 106774883 LOH Normal High-resolution SNP genotyping 21211785 chrX 101482001 101766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101482385 105267870 LOH Normal High-resolution SNP genotyping 21211785 chrX 101482385 106746489 LOH Normal High-resolution SNP genotyping 21211785 chrX 101482385 115052342 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 101486498 106774883 LOH Normal High-resolution SNP genotyping 21211785 chrX 101515462 106774883 LOH Normal High-resolution SNP genotyping 21211785 chrX 10152001 11142500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101521385 101532877 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101543854 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 101574756 101577818 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101590424 111254582 LOH Normal High-resolution SNP genotyping 21211785 chrX 101607812 101609287 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101611038 101632766 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101638684 102220107 LOH Normal High-resolution SNP genotyping 21211785 chrX 101638684 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 101638684 104365438 LOH Normal High-resolution SNP genotyping 21211785 chrX 101638684 107941787 LOH Normal High-resolution SNP genotyping 21211785 chrX 101645104 107213442 LOH Normal High-resolution SNP genotyping 21211785 chrX 101645104 115029260 LOH Normal High-resolution SNP genotyping 21211785 chrX 101651263 101720375 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101651263 111273012 LOH Normal High-resolution SNP genotyping 21211785 chrX 101653507 102220107 LOH Normal High-resolution SNP genotyping 21211785 chrX 101653507 114447563 LOH Normal High-resolution SNP genotyping 21211785 chrX 101653507 118949100 LOH Normal High-resolution SNP genotyping 21211785 chrX 101653787 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 101653787 107750793 LOH Normal High-resolution SNP genotyping 21211785 chrX 101654643 102220107 LOH Normal High-resolution SNP genotyping 21211785 chrX 101654643 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 101654643 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 101654643 115052342 LOH Normal High-resolution SNP genotyping 21211785 chrX 101656236 101750774 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 101660241 101665228 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101712587 101719523 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101720375 104365438 LOH Normal High-resolution SNP genotyping 21211785 chrX 101731752 101764452 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 101739780 101739886 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101750774 104365438 LOH Normal High-resolution SNP genotyping 21211785 chrX 101766001 101768000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101768001 101792000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101773249 101778805 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101781799 101813506 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101792001 101794000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101794001 101853000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101834274 101834344 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101847682 101847741 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101847817 101847885 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101853001 101855000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101855001 101887000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101858164 101858235 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101862474 101862539 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101863986 101864043 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101864044 101864113 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101868966 101869018 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101870191 101870261 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101871191 101871259 Gain and loss Pancreatic cancer SNP array 17952125 chrX 101887001 101888500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101888501 102100500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 101919588 105580350 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 10199165 10199265 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 101998392 101999228 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102100501 102102500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 102102501 102868000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 102123733 102125244 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102134796 102496321 Duplication Oligozoospermia Array-CGH 20877625 chrX 102136897 102154167 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102182466 102182566 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1021895 10234203 Copy number Autism exome sequencing 22495311 chrX 102206231 102233651 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 102217193 102217284 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102217197 102217284 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102220107 102294644 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 102233651 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 10225902 10398267 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102276210 102278265 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102294644 103011746 LOH Normal High-resolution SNP genotyping 21211785 chrX 102294644 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 102294644 111244491 LOH Normal High-resolution SNP genotyping 21211785 chrX 102294644 111254582 LOH Normal High-resolution SNP genotyping 21211785 chrX 102294644 115016572 LOH Normal High-resolution SNP genotyping 21211785 chrX 102294644 115029260 LOH Normal High-resolution SNP genotyping 21211785 chrX 102294644 115035535 LOH Normal High-resolution SNP genotyping 21211785 chrX 102294644 115040156 LOH Normal High-resolution SNP genotyping 21211785 chrX 102294644 117164177 LOH Normal High-resolution SNP genotyping 21211785 chrX 102312545 102312640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 102314069 102316258 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102370420 102372090 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102391293 102393398 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102417574 102419524 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102430435 102430535 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 102437413 102439144 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102458813 102459234 Gain Normal 244K array 17666407 chrX 102487235 104978530 LOH Normal High-resolution SNP genotyping 21211785 chrX 102500000 103600000 Copy number Normal - 21701786 chrX 102500000 103600000 Microduplication Pelizaeus-Merzbacher disease - 16760730 chrX 102500847 102500947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 102560827 102580562 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102570365 103805944 LOH Normal High-resolution SNP genotyping 21211785 chrX 10260684 10260784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 102637304 102648584 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102668979 102670999 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102690072 102692019 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102712806 102713158 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102726438 102726538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 102736569 102749137 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102743350 102745361 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 102771982 102775110 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102780079 102789276 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102837899 102853690 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102868001 102870500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 102870501 103215000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 102883403 102893327 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102888546 103261206 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 102889294 104653516 LOH Normal High-resolution SNP genotyping 21211785 chrX 102911897 102911986 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102918094 102934203 Duplication Pelizaeus-Merzbacher disease PCR 21679407 chrX 102923942 102972087 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 102943370 102968278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 102950959 102972397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 10295946 11825442 LOH Normal High-resolution SNP genotyping 21211785 chrX 102965384 102965785 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102966606 102973814 Copy number Lung cancer - 20668451 chrX 102966606 102973814 Gain or loss Breast cancer - 20668451 chrX 102966606 102973814 Gain or loss Cancer - 20668451 chrX 102966606 102973814 Gain or loss Lung cancer - 20668451 chrX 102966606 102973814 Gain or loss Ovarian cancer - 20668451 chrX 102966606 102973814 Gain or loss Pancreas cancer - 20668451 chrX 102966606 102973814 Gain or loss Prostate cancer - 20668451 chrX 102972087 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 102976130 103072426 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 102979624 103037737 Gain and loss Pancreatic cancer SNP array 17952125 chrX 102988894 102989708 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10300093 10300193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103011746 103095641 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 103022527 103023009 Gain and loss Pancreatic cancer SNP array 17952125 chrX 103049195 103124000 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 103066101 103190187 Duplication Oligozoospermia Array-CGH 20877625 chrX 103072426 105596693 LOH Normal High-resolution SNP genotyping 21211785 chrX 103073429 103074377 Gain and loss Pancreatic cancer SNP array 17952125 chrX 103073810 103075095 Loss Normal 244K array 17666407 chrX 103075310 103075702 Loss Normal 244K array 17666407 chrX 103085127 103085358 Gain Normal 244K array 17666407 chrX 103085358 103085494 Loss Normal 244K array 17666407 chrX 103085599 103086086 Loss Normal 244K array 17666407 chrX 103095641 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 103100758 103101135 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10313672 10313772 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103144645 103187293 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 103145837 103191966 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 103150044 103207853 Gain and loss Pancreatic cancer SNP array 17952125 chrX 103164948 103166159 Gain and loss Pancreatic cancer SNP array 17952125 chrX 103206569 103223890 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 103206569 103224583 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 103215001 103217500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103215658 135024007 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chrX 103217446 103242270 Gain and loss Pancreatic cancer SNP array 17952125 chrX 103217501 103235500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103235501 103243500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103243501 103245000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103245001 103385000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103276770 103276864 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103300865 103305733 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10334083 10334129 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103385001 103386500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103386501 103696500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103410605 103410685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103427108 103460397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 103435773 103435808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103595651 103595751 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103600000 110500000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 103600000 110500000 Copy number Normal - 21701786 chrX 103600000 116800000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chrX 103600000 116800000 Copy number X-linked lissencephaly Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 103602411 103602511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103603960 103604064 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 10360593 10360695 Gain and loss Pancreatic cancer SNP array 17952125 chrX 103696501 103700500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103698356 103698826 Gain and loss Pancreatic cancer SNP array 17952125 chrX 103700501 106453000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 103709740 104817799 Gain and loss Pancreatic cancer SNP array 17952125 chrX 103721418 103721518 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 10373596 10761730 Copy number Autism exome sequencing 22495311 chrX 10376577 10376677 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 103900994 104234719 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chrX 104034529 104034624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104036187 104036287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104055786 104055880 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104108626 104108721 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104109151 104221182 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 10418219 10418317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104222496 105156916 LOH Normal High-resolution SNP genotyping 21211785 chrX 104222496 108932762 LOH Normal High-resolution SNP genotyping 21211785 chrX 104267818 109171058 LOH Normal High-resolution SNP genotyping 21211785 chrX 104269791 104271503 Gain and loss Pancreatic cancer SNP array 17952125 chrX 104275719 104281283 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 104290244 104355531 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 104342083 104368496 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 104353610 104353710 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104355531 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 104361029 104419534 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 104365438 104425628 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 104366876 104390634 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 104368496 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 104398985 104399085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104413217 104413317 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104419534 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 104419534 108071172 LOH Normal High-resolution SNP genotyping 21211785 chrX 104419534 114447563 LOH Normal High-resolution SNP genotyping 21211785 chrX 104419534 115029260 LOH Normal High-resolution SNP genotyping 21211785 chrX 104419534 115040156 LOH Normal High-resolution SNP genotyping 21211785 chrX 104419534 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 104419534 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 104425628 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 104456428 104459693 Gain and loss Pancreatic cancer SNP array 17952125 chrX 104464811 104464886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104511838 104511938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104536238 104536338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104559028 104559128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104726209 104726315 Gain and loss Pancreatic cancer SNP array 17952125 chrX 104735316 104735416 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104789604 104789674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 104872681 105008746 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10488860 10491077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 105010614 105561054 Duplication Oligozoospermia Array-CGH 20877625 chrX 105054176 105088238 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 105058723 105058823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 105077813 105078115 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 105083342 105087530 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105156916 106023245 LOH Normal High-resolution SNP genotyping 21211785 chrX 105156916 107108508 LOH Normal High-resolution SNP genotyping 21211785 chrX 105156916 107166601 LOH Normal High-resolution SNP genotyping 21211785 chrX 105156916 108408038 LOH Normal High-resolution SNP genotyping 21211785 chrX 105160000 105410000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 105169974 105201828 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 105218443 105259093 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105220997 105221073 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 105228678 108008888 LOH Normal High-resolution SNP genotyping 21211785 chrX 105228678 108808000 LOH Normal High-resolution SNP genotyping 21211785 chrX 105267870 105334243 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 105313719 105313814 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 105318958 105332305 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 105334243 108071172 LOH Normal High-resolution SNP genotyping 21211785 chrX 105335734 105500830 Gain Normal 244K array 17666407 chrX 105343681 105487922 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 105351548 105351648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 105376915 105377196 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105408163 105452779 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 105410026 105417967 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 105475943 105476042 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105475944 105476042 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105478993 112242937 Loss Normal 244K array 17666407 chrX 105580350 109837050 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 105596693 105773826 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 105661347 105728812 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105693678 105694463 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 105708813 105708911 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 105743213 105846389 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105773826 110132290 LOH Normal High-resolution SNP genotyping 21211785 chrX 105799381 105799462 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105852064 105925520 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105949440 105952692 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105949539 105980236 Gain and loss Pancreatic cancer SNP array 17952125 chrX 105990120 106049124 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106043784 106043879 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106094131 106139472 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 106102352 106102891 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106116516 106168179 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106172856 106255808 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106181029 106181644 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106200473 108593194 LOH Normal High-resolution SNP genotyping 21211785 chrX 106222410 106222510 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106245349 106245381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106250645 106282761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 106251952 106252051 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106251952 106252057 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106256007 106293617 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106321957 106323033 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106341353 106371005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 106345654 106380200 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 106373913 106373988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106401457 106402168 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106448463 106448656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106453001 106456000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106456001 106573000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106478347 106478790 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106494249 106523999 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 106573001 106578500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106578501 106583000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 1065810 10680912 Copy number Autism exome sequencing 22495311 chrX 106583001 106730000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106587986 106622170 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 106599427 106603906 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106631231 106631419 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 106649765 106654624 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106661290 106661458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106661460 106661508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106661461 106661670 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106677882 106700403 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106730001 106734000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106734001 106844000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106762605 106825347 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10676662 10676757 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 106783155 110132290 LOH Normal High-resolution SNP genotyping 21211785 chrX 106783155 110188823 LOH Normal High-resolution SNP genotyping 21211785 chrX 106783155 115052342 LOH Normal High-resolution SNP genotyping 21211785 chrX 106783155 119274343 LOH Normal High-resolution SNP genotyping 21211785 chrX 106838297 110132290 LOH Normal High-resolution SNP genotyping 21211785 chrX 106838297 115052342 LOH Normal High-resolution SNP genotyping 21211785 chrX 106838297 119266826 LOH Normal High-resolution SNP genotyping 21211785 chrX 106838297 119275300 LOH Normal High-resolution SNP genotyping 21211785 chrX 106843641 106843988 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106844001 106847000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106847001 106911500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106890074 106976561 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106911501 107864500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 106950522 106950621 Gain and loss Pancreatic cancer SNP array 17952125 chrX 106956116 107057077 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 107030239 107031745 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107068023 107068100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107094345 107128558 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107110750 107112256 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 107133584 107140993 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107141079 107204045 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107174856 107209069 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 107186698 107186798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107204991 107488872 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107214093 107221504 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 107221590 107284549 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 10724313 10727323 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 107246184 115040156 LOH Normal High-resolution SNP genotyping 21211785 chrX 107279244 107320928 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 107285502 107569367 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 107432783 107433363 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107457269 107457322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 107468299 107468399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107477369 107477469 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107489299 107746920 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107492391 107492491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107513285 107513877 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 107527813 107527913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107569810 107827431 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 107640529 107669772 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107659384 107692131 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 107691202 107691302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107726328 107726432 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107750793 108076054 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 107765808 107890152 Gain Autism qPCR, Illumina1M 20531469 chrX 107781946 107785719 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107827157 107827249 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107862368 107866295 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 107864501 107867000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 107867001 109581500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 107876139 107876242 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107876141 107876242 Gain and loss Pancreatic cancer SNP array 17952125 chrX 107941787 108086022 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 107970205 107970303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 107992046 108127041 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 108029310 108029410 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108061445 108230643 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 108071172 108272494 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 108076054 111244491 LOH Normal High-resolution SNP genotyping 21211785 chrX 108086022 110355157 LOH Normal High-resolution SNP genotyping 21211785 chrX 108103470 108103979 Gain and loss Pancreatic cancer SNP array 17952125 chrX 108127041 125411524 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 110619589 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 111244491 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 111254582 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 111273012 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 112621688 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 114170663 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 114447563 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 115029260 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 115040156 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 115052342 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 116137454 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 117119832 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 117122420 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 117164177 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 118025647 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 118391678 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 108230643 128299734 LOH Normal High-resolution SNP genotyping 21211785 chrX 108250765 108250865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108272494 114447267 LOH Normal High-resolution SNP genotyping 21211785 chrX 108272494 115052342 LOH Normal High-resolution SNP genotyping 21211785 chrX 108272494 117162266 LOH Normal High-resolution SNP genotyping 21211785 chrX 108272494 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 108272494 118391678 LOH Normal High-resolution SNP genotyping 21211785 chrX 108391560 108391996 Gain and loss Pancreatic cancer SNP array 17952125 chrX 108403340 108403362 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chrX 108422280 108531446 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10848941 10849036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108585146 108787037 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 108585155 108594058 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1086377 1087120 Copy number Autism exome sequencing 22495311 chrX 108648007 108648107 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108648816 108648916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108649791 108649891 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108650445 108682322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 108652661 108652756 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108673966 108674394 Gain and loss Pancreatic cancer SNP array 17952125 chrX 10867697 10867797 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108690711 108782766 Gain and loss Pancreatic cancer SNP array 17952125 chrX 108720277 108720377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108722864 108762439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 108732885 108732985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108753895 108804528 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 108776275 108777437 Gain and loss Pancreatic cancer SNP array 17952125 chrX 108794021 108794123 Gain and loss Pancreatic cancer SNP array 17952125 chrX 108804528 126739620 LOH Normal High-resolution SNP genotyping 21211785 chrX 108822202 108822282 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108873154 111494691 LOH Normal High-resolution SNP genotyping 21211785 chrX 108873154 111499956 LOH Normal High-resolution SNP genotyping 21211785 chrX 108873154 111508753 LOH Normal High-resolution SNP genotyping 21211785 chrX 108873154 111522570 LOH Normal High-resolution SNP genotyping 21211785 chrX 108878939 108879039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108884467 108884561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108886996 108900319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 10889078 10900855 Gain and loss Pancreatic cancer SNP array 17952125 chrX 108901834 111532139 LOH Normal High-resolution SNP genotyping 21211785 chrX 108915128 109566047 LOH Normal High-resolution SNP genotyping 21211785 chrX 10893871 10893970 Gain and loss Pancreatic cancer SNP array 17952125 chrX 108948327 108948427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 108967500 108967553 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 108976713 108976746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109052488 109227045 Gain and loss Pancreatic cancer SNP array 17952125 chrX 109103731 111522570 LOH Normal High-resolution SNP genotyping 21211785 chrX 10915324 11442605 Gain and loss Pancreatic cancer SNP array 17952125 chrX 109247763 109367612 Gain and loss Pancreatic cancer SNP array 17952125 chrX 109264532 109264580 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109274362 109274433 Gain and loss Pancreatic cancer SNP array 17952125 chrX 109278442 111558527 LOH Normal High-resolution SNP genotyping 21211785 chrX 109290847 109335613 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 109316721 109432049 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 109387916 109517626 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 109396076 109396282 Gain and loss Pancreatic cancer SNP array 17952125 chrX 109416675 109416765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109426824 109426908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109494603 109505699 Gain and loss Pancreatic cancer SNP array 17952125 chrX 109544094 109544188 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109566373 109570753 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 109570503 109571069 Gain and loss Pancreatic cancer SNP array 17952125 chrX 109581501 109584000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 109584001 114330500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 10962639 10962739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109654109 109654405 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 109668741 109668841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109724622 109845138 Gain and loss Pancreatic cancer SNP array 17952125 chrX 109734038 109778820 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 109766547 109766640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109781705 112862277 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 109805 230897 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 109805 253275 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 109819221 109819322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 109827301 111284776 LOH Normal High-resolution SNP genotyping 21211785 chrX 109827301 111343005 LOH Normal High-resolution SNP genotyping 21211785 chrX 109827301 111863016 LOH Normal High-resolution SNP genotyping 21211785 chrX 109837050 111000548 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 109937864 109937943 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 110000 87042000 Gain Acute myeloid leukemia Affymetrix SNP 6.0 arrays 20729466 chrX 110054571 110270305 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11006314 11006652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 110097657 110097725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 110132290 110214411 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 110188823 110262552 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 110214411 116693877 LOH Normal High-resolution SNP genotyping 21211785 chrX 110214411 119275300 LOH Normal High-resolution SNP genotyping 21211785 chrX 110226892 110965127 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrX 1102363 1104130 Copy number Autism exome sequencing 22495311 chrX 110238448 110260226 Duplication Oligozoospermia Array-CGH 20877625 chrX 11025261 11050829 Copy number Autism exome sequencing 22495311 chrX 110262552 119275300 LOH Normal High-resolution SNP genotyping 21211785 chrX 110281312 110281400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 110294476 110319896 Gain and loss Pancreatic cancer SNP array 17952125 chrX 110325544 110325644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11034288 11075205 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 11034288 11075205 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 110343152 110461542 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11034778 11061916 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 110355157 110404309 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 11039336 11051122 Copy number Autism exome sequencing 22495311 chrX 110404309 117164177 LOH Normal High-resolution SNP genotyping 21211785 chrX 110444753 110445990 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 110454440 110488508 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 110470909 110470980 Gain and loss Pancreatic cancer SNP array 17952125 chrX 110479141 110479241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 110500000 116800000 Copy number Normal - 21701786 chrX 110500000 116800000 Gain Breast cancer - 16397240 chrX 110620883 110620972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11065597 11161605 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 110673583 110674018 Gain and loss Pancreatic cancer SNP array 17952125 chrX 110680437 110680514 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11071190 11078538 Gain and loss Pancreatic cancer SNP array 17952125 chrX 110719201 110719321 Gain and loss Pancreatic cancer SNP array 17952125 chrX 110719202 110719321 Gain and loss Pancreatic cancer SNP array 17952125 chrX 110730558 110738169 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11075205 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 11075205 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 110776223 110810017 Gain and loss Pancreatic cancer SNP array 17952125 chrX 110803653 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 110810393 110855459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 110823687 111132149 Gain and loss Pancreatic cancer SNP array 17952125 chrX 110957948 111002506 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 111008882 111008982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111121484 111121525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11112756 11113648 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111180919 111184844 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 1 11200000 Microdeletion short stature aCGH 22470819 chrX 111208689 111287696 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 111229339 111229555 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111229558 111229779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111244491 111304202 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 111250213 111250288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111254582 111312943 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 111259134 111259219 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111273012 111325609 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 11127929 11128029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111287696 125400935 LOH Normal High-resolution SNP genotyping 21211785 chrX 111304202 115052342 LOH Normal High-resolution SNP genotyping 21211785 chrX 111304202 117164177 LOH Normal High-resolution SNP genotyping 21211785 chrX 111304202 117350649 LOH Normal High-resolution SNP genotyping 21211785 chrX 111304202 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 111304202 118391678 LOH Normal High-resolution SNP genotyping 21211785 chrX 111304202 131589419 LOH Normal High-resolution SNP genotyping 21211785 chrX 111304202 131617746 LOH Normal High-resolution SNP genotyping 21211785 chrX 111312943 114422071 LOH Normal High-resolution SNP genotyping 21211785 chrX 111312943 117122420 LOH Normal High-resolution SNP genotyping 21211785 chrX 111312943 117164177 LOH Normal High-resolution SNP genotyping 21211785 chrX 111325609 114447267 LOH Normal High-resolution SNP genotyping 21211785 chrX 111325609 117162266 LOH Normal High-resolution SNP genotyping 21211785 chrX 111325609 117164177 LOH Normal High-resolution SNP genotyping 21211785 chrX 111325609 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 111357983 111367500 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 11142501 11144000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 111430765 111431597 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11144001 11355000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 111454596 112873496 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 11148137 11223616 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 111494591 111494690 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111503872 111506618 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111511071 111511156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111525017 111545694 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 111557593 111557683 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111557749 111557978 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111598447 111621531 Deletion Oligozoospermia Array-CGH 20877625 chrX 111600829 111629152 Deletion Medulloblastoma Illumina SNP arrays 21163964 chrX 111601373 115284937 LOH Normal High-resolution SNP genotyping 21211785 chrX 11161605 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 111638462 111672252 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 111643939 111667762 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1116751 1317000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 111680025 111729427 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111688882 111689013 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 111711030 111711139 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111711030 111711140 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111735032 111735572 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111739288 111739893 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111760534 111810031 Deletion Mental retardation PCR 20877625 chrX 111772077 111772617 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111823876 111890188 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111854499 111854597 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 111904021 111904121 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 111905256 111905533 Gain and loss Pancreatic cancer SNP array 17952125 chrX 111977008 111977108 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11202929 11203029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11205018 11205118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 112050394 112050501 Gain and loss Pancreatic cancer SNP array 17952125 chrX 112069268 112369612 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 112090078 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 112109081 118025647 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 11223616 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 11223616 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 112263479 112263579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1 12272650 LOH Normal High-resolution SNP genotyping 21211785 chrX 112305337 113038607 LOH Normal High-resolution SNP genotyping 21211785 chrX 112305337 113041550 LOH Normal High-resolution SNP genotyping 21211785 chrX 112306205 112306270 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 112517323 112517423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 112571907 112572410 Gain and loss Pancreatic cancer SNP array 17952125 chrX 112621688 112696870 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 112675215 112675342 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chrX 112696870 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 112712605 112712647 Loss Normal 244K array 17666407 chrX 112713104 114638926 LOH Normal High-resolution SNP genotyping 21211785 chrX 112732053 112732277 Loss Normal 244K array 17666407 chrX 112734957 114795726 Loss or gain Normal 244K array 17666407 chrX 112784311 123743918 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chrX 112862277 113501641 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 112873496 113157276 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 112993232 112993445 Gain and loss Pancreatic cancer SNP array 17952125 chrX 112993233 112993447 Gain and loss Pancreatic cancer SNP array 17952125 chrX 112994569 112994644 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 112998956 112999121 Gain and loss Pancreatic cancer SNP array 17952125 chrX 113025355 113025647 Gain and loss Pancreatic cancer SNP array 17952125 chrX 113088911 113089011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11310706 11310746 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 113111108 113111202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 113157276 114774822 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 11316991 11317073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11324498 11418698 Gain Autism qPCR 20531469 chrX 113247471 113247621 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 113320154 113497585 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 113358728 113358828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 113361729 113564195 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 113361729 113603826 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 113448107 113448691 Gain and loss Pancreatic cancer SNP array 17952125 chrX 113501641 116756585 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 113539076 113555898 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 11355001 11356500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 11356501 11592000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 113575316 113575370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 113641531 113967604 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11366255 14509493 Loss Developmental delay affymetrix genechip 500K/SNP 6.94 array 21147756 chrX 113688239 113688366 Gain and loss Pancreatic cancer SNP array 17952125 chrX 113709201 113753541 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 113855906 113856017 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 113880997 113881107 Gain and loss Pancreatic cancer SNP array 17952125 chrX 113894501 113894601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 113991988 113992063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114053710 114084128 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 114061520 114075187 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114089970 114090070 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114116724 114161621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114170663 114241512 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 114170830 114291615 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11418691 11418741 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114196576 114196666 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114214930 114215081 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114241512 115040156 LOH Normal High-resolution SNP genotyping 21211785 chrX 114248160 114250406 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114255975 114256292 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114291500 114291600 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114322645 114358036 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114328364 114328464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114330501 114333500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 114333501 114701500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 114347299 114365099 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114360524 114360624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114422071 114455782 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 114447267 114473218 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 114447563 114475842 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 114448338 114452012 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 114455782 126726833 LOH Normal High-resolution SNP genotyping 21211785 chrX 114473218 126739620 LOH Normal High-resolution SNP genotyping 21211785 chrX 114473218 134247791 LOH Normal High-resolution SNP genotyping 21211785 chrX 114475842 115052342 LOH Normal High-resolution SNP genotyping 21211785 chrX 114475842 118025647 LOH Normal High-resolution SNP genotyping 21211785 chrX 114544518 114544651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114560108 114560208 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114562754 114562854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114576749 114577043 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 114591644 114591744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114597996 114598078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114618464 114707967 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1 146900000 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chrX 114701501 114703000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 114703001 114923000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 11471277 11492995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114723802 114723857 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114758048 114807710 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114768844 114795257 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 114776242 114776529 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114783507 114784539 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114783579 114785284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114784507 114786223 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114786609 114786753 Loss Autism 1M Ailent CGH whole-genome array 21865298 chrX 114795547 114795610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114801485 114808034 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 11480465 11498478 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114808371 114809181 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114808433 114809319 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114808768 114810969 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114810142 114823268 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114810209 114823394 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114812052 114812760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114812333 114819680 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114812443 114817691 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 114812520 114818838 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 11481276 11510739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 11482992 11483273 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114891539 114891624 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114897176 114897304 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114911068 114914040 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 114914053 114919099 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 114920681 114920977 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114920681 114920982 Gain and loss Pancreatic cancer SNP array 17952125 chrX 114923001 114934500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 114923033 114923133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 114934501 115052000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 114951181 114954578 Loss Normal 244K array 17666407 chrX 1 1499465 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 chrX 115014249 115043972 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 115016572 115054008 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 115029260 115060126 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 115035535 115074514 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 115040156 115086236 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 115040156 115089579 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 115046862 115061085 Copy number Alcoholism Illumina Human Hap693W-Quad BeadChip 21790672 chrX 115047157 115064654 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 115051983 115064666 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 115052001 115066000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 115052026 115066944 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 115052245 115070993 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 115052342 115109677 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 115052342 115109677 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 115052342 115109677 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 115054008 125400935 LOH Normal High-resolution SNP genotyping 21211785 chrX 115054008 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 115055557 115064654 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 115056546 115064654 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 115059066 115080842 Loss Normal 244K array 17666407 chrX 115060126 118157620 LOH Normal High-resolution SNP genotyping 21211785 chrX 115060126 118381854 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 115060126 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 115060126 118391678 LOH Normal High-resolution SNP genotyping 21211785 chrX 115066001 116408500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 115068350 115068428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 115074514 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 115080759 115080842 Loss Normal 244K array 17666407 chrX 115080759 115108681 Loss Normal 244K array 17666407 chrX 115086236 115156806 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 115086236 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 115086236 118386884 LOH Normal High-resolution SNP genotyping 21211785 chrX 115086236 118391678 LOH Normal High-resolution SNP genotyping 21211785 chrX 115086236 120156266 LOH Normal High-resolution SNP genotyping 21211785 chrX 115086236 129177815 LOH Normal High-resolution SNP genotyping 21211785 chrX 115086236 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 11508750 11508850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 115089579 118031759 LOH Normal High-resolution SNP genotyping 21211785 chrX 115089579 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 117164177 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 117515301 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 118391678 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 119275300 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 122331009 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 125390693 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 115109677 132921955 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 115109677 134668338 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 115109677 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 115109677 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 115109677 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 115113885 115117702 Gain and loss Pancreatic cancer SNP array 17952125 chrX 115156806 118025647 LOH Normal High-resolution SNP genotyping 21211785 chrX 1151586 1152053 Copy number Autism exome sequencing 22495311 chrX 115215985 115220253 Gain or loss Breast cancer - 20668451 chrX 115215985 115220253 Gain or loss Cancer - 20668451 chrX 115215985 115220253 Gain or loss Lung cancer - 20668451 chrX 115215985 115220253 Gain or loss Ovarian cancer - 20668451 chrX 115215985 115220253 Gain or loss Pancreas cancer - 20668451 chrX 115215985 115220253 Gain or loss Prostate cancer - 20668451 chrX 115286476 115316887 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 115296929 115297029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 115304929 115321240 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 115342875 115355047 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 115343890 115343995 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11535935 11553527 Gain and loss Pancreatic cancer SNP array 17952125 chrX 115379672 115404505 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1 154824264 Loss Burkitt's lymphoma 250k Sty GeneChips 20823134 chrX 115488600 115515189 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1 154913754 Deletion,duplication Normal Affymetrix 250K SNP array 21412953 chrX 1 154913754 Deletion Medulloblastoma SNP arrays 21979893 chrX 1 154913754 Deletion Normal - 20616218 chrX 1 154913754 Gain Acute lymphoblastic leukemia array CGH 17690704 chrX 1 154913754 Gain Esophageal squamous carcinoma CGH 21637470 chrX 1 154913754 Gain Glioblastoma multiforme aCGH 21080181 chrX 1 154913754 Gain Glioblastoma multiforme conventional CGH 21080181 chrX 1 154913754 In Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 1 154913754 Loss Astrocytoma CGH 17387387 chrX 1 154913754 Loss Glioblastoma multiforme aCGH 21080181 chrX 1 154913754 Loss Glioblastoma multiforme conventional CGH 21080181 chrX 1 154913754 Loss Metanephric adenoma Oligo aCGH 20802469 chrX 1 154913754 Loss Neuroblastoma Human Genome CGH Microarray 244A Kit 18923191 chrX 115504332 115536562 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1155 1172 Deletion Rett syndrome Polymerase chain reaction (PCR)amplification 18810657 chrX 115515189 136672079 LOH Normal High-resolution SNP genotyping 21211785 chrX 115516020 115516120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 115517936 115518036 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1 155270560 Gain Olfactory neuroblastoma Agilents 4*44K CGH microarray 18408657 chrX 115536562 144949666 LOH Normal High-resolution SNP genotyping 21211785 chrX 115549202 115573793 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 115597784 116676148 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 11561743 11561867 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 115711880 115883234 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 115754405 115773588 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 115766689 115766795 Gain and loss Pancreatic cancer SNP array 17952125 chrX 115823325 115934048 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 115900545 115900645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11592001 11594500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 11594501 16095500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 115996860 115996960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 116137454 116219756 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 116149305 116149405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 116219756 117162266 LOH Normal High-resolution SNP genotyping 21211785 chrX 116338374 116338692 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 11635274 11641320 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 116406685 116406762 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 116408501 116413500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 116413501 117841000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 116469523 116469589 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 116494734 116494795 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 11650091 11683617 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 116678028 116678118 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 116693877 116738153 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 116738153 119275300 LOH Normal High-resolution SNP genotyping 21211785 chrX 116800000 120700000 Copy number Normal - 21701786 chrX 116800000 120700000 Gain Male reproduction FISH 21988730 chrX 116800000 129800000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 116800000 140100000 Insert Congenital Hypertrichosis Syndrome Affymetrix Genotyping Console 3.0 21636067 chrX 116800000 154913754 Deletion Congenital abnormalities BAC array CGH platform 21549014 chrX 116800000 154913754 Deletion Developmental delay BAC array CGH platform 21549014 chrX 116800000 154913754 Deletion Mental retardation BAC array CGH platform 21549014 chrX 116813659 116889583 Gain and loss Pancreatic cancer SNP array 17952125 chrX 116830091 116830190 Gain and loss Pancreatic cancer SNP array 17952125 chrX 116830093 116830190 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11683617 14769425 LOH Normal High-resolution SNP genotyping 21211785 chrX 11683617 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 11684787 11724004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 116863911 116864177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 116907441 116907536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 116909539 116909624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 11696220 11726535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 116988306 120109886 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 117000000 147000000 Gain Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chrX 11704821 11723927 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 11707085 11750068 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1 17100000 Copy number Oro-facial digital syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 1 17100000 Deletion Oro-facial digital syndrome QFMPSF and qPCR 19023858 chrX 117115786 117116072 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117119832 117171344 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 117122420 117172016 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 117162266 117192655 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 117164177 117195575 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 117171344 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 117171344 125400935 LOH Normal High-resolution SNP genotyping 21211785 chrX 117172016 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 117172016 118391678 LOH Normal High-resolution SNP genotyping 21211785 chrX 117172016 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 117192655 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 117192655 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 117195575 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 117195575 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 117195575 125415527 LOH Normal High-resolution SNP genotyping 21211785 chrX 117198411 117206998 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 117210412 117210505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 117236143 117236243 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 117261924 117365803 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117308763 127712959 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 117336201 117340800 Deletion Glioma mate-paired sequence 20126413 chrX 117338171 117338997 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 117350649 117405751 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 117366244 120451596 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 117405751 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 117411753 117601996 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117485252 117485360 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117512888 117512958 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 117515301 117539268 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 117539268 125390693 LOH Normal High-resolution SNP genotyping 21211785 chrX 117566882 117566982 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 117643441 117710378 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117739628 117742812 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117793725 117795172 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117841001 117847000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 117847001 117991000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 117890463 117933829 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117915603 117915658 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 117925733 117925813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 117991001 117995000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 117994481 118005295 Gain and loss Pancreatic cancer SNP array 17952125 chrX 117995001 118226000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 118025647 118066062 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 118034462 118034541 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 118066062 118381854 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118066062 120242800 LOH Normal High-resolution SNP genotyping 21211785 chrX 118066062 121770162 LOH Normal High-resolution SNP genotyping 21211785 chrX 118066062 121779551 LOH Normal High-resolution SNP genotyping 21211785 chrX 118080256 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 118147936 118148030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 118152133 118160310 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118208072 118949100 LOH Normal High-resolution SNP genotyping 21211785 chrX 1 1821672 LOH Normal High-resolution SNP genotyping 21211785 chrX 118226001 118229500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 118229501 118290500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 11827218 11861337 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 118290501 118292000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 118292001 118349500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 118295557 118370317 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118315919 118315999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 11832602 11832702 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118339587 118339750 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118349501 118352000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 118350364 118350665 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118352001 119008000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 118372403 118372501 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118381854 118439454 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 118384030 118384446 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118384291 118387161 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118386884 118443732 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 118391678 118446219 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 11842415 11842515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 118439454 121734651 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 121755413 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 121760172 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 121775887 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 121779551 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 121793667 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 121795578 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 123825747 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 125400935 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 125431454 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 126739620 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 128277353 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 128299734 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118439454 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 131587855 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 132921955 LOH Normal High-resolution SNP genotyping 21211785 chrX 118439454 132926959 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118439454 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118439454 141143310 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118439454 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118439454 154608206 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118443732 125374570 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 118952258 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 118972650 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 125400935 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 125411524 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 126739620 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 128268782 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 128287735 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118446219 134142544 LOH Normal High-resolution SNP genotyping 21211785 chrX 118446219 151599726 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118446219 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 118453998 118481240 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118475216 118475303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 118490381 118500259 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118504189 118521706 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11851717 11851798 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1185217 1187096 Copy number Autism exome sequencing 22495311 chrX 118531572 118609215 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118534166 118566197 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 118592526 118602407 Gain or loss Breast cancer - 20668451 chrX 118592526 118602407 Gain or loss Cancer - 20668451 chrX 118592526 118602407 Gain or loss Lung cancer - 20668451 chrX 118592526 118602407 Gain or loss Ovarian cancer - 20668451 chrX 118592526 118602407 Gain or loss Pancreas cancer - 20668451 chrX 118592526 118602407 Gain or loss Prostate cancer - 20668451 chrX 11863107 11869356 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 118633715 118711361 Gain or loss Breast cancer - 20668451 chrX 118633715 118711361 Gain or loss Cancer - 20668451 chrX 118633715 118711361 Gain or loss Lung cancer - 20668451 chrX 118633715 118711361 Gain or loss Ovarian cancer - 20668451 chrX 118633715 118711361 Gain or loss Pancreas cancer - 20668451 chrX 118633715 118711361 Gain or loss Prostate cancer - 20668451 chrX 118655215 118696874 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 118674513 118675460 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118702351 118707488 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118703198 118703329 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118739321 118863415 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 118739321 119110866 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 118743448 118832624 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 118749871 118768850 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118756601 118762500 Deletion Glioma mate-paired sequence 20126413 chrX 118758005 118760929 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 118772536 118959978 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 118778138 118810770 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 118780844 118798128 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrX 118786427 118787458 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118787616 118792478 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118804496 118809634 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 118811682 118836561 Gain and loss Pancreatic cancer SNP array 17952125 chrX 118811734 118832624 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 118830749 118834397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 118836401 118854351 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 118841065 118859481 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1189227 118602407 Copy number Autism exome sequencing 22495311 chrX 11894657 118889762 Copy number Autism exome sequencing 22495311 chrX 118949100 118987330 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 118952258 118993438 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 118972650 119107435 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 118987330 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 118987330 128445899 LOH Normal High-resolution SNP genotyping 21211785 chrX 118993438 131617746 LOH Normal High-resolution SNP genotyping 21211785 chrX 119008001 119010000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 119010001 119330000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 119024907 119031729 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119074349 119079815 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119107435 128271855 LOH Normal High-resolution SNP genotyping 21211785 chrX 119126425 119127447 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119152193 119160970 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11916577 12496568 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119166489 119174133 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119174388 119227203 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119183307 119364831 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 119259266 119259606 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 119266826 119281415 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 11926902 11927012 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119274343 119287399 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 119275300 119288674 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 119277849 119298108 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119281415 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 119287399 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 119288674 120204866 LOH Normal High-resolution SNP genotyping 21211785 chrX 119288674 122078870 LOH Normal High-resolution SNP genotyping 21211785 chrX 119288674 122117921 LOH Normal High-resolution SNP genotyping 21211785 chrX 119288674 125445731 LOH Normal High-resolution SNP genotyping 21211785 chrX 119288674 134248551 LOH Normal High-resolution SNP genotyping 21211785 chrX 119288674 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 119288674 140659765 LOH Normal High-resolution SNP genotyping 21211785 chrX 119288674 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 119314450 119315047 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 119330001 121867000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 119346563 119385043 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119348560 119384115 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 119384115 125431454 LOH Normal High-resolution SNP genotyping 21211785 chrX 119418774 119418834 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119420388 119420439 Gain and loss Pancreatic cancer SNP array 17952125 chrX 11942474 11993712 Copy number Autism exome sequencing 22495311 chrX 119440355 119491531 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1194431 1198732 Copy number Autism exome sequencing 22495311 chrX 119460052 119460154 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119481615 119481840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 119492692 119492765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 119497588 119497646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119505178 119505243 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119519717 119528120 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119527340 119527652 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 119527733 119527854 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119541537 119545887 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119579869 119579913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119582620 119582705 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119648709 119649132 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119709880 119709949 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119763543 119794269 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 119784412 119846735 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 119784460 119785541 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119784741 119849180 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 119786213 119855430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 119786654 119847035 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 119788375 119847083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 119789746 119849640 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 119789968 119818984 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 119816870 119848905 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 11985629 11985729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119880285 119967804 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 119892633 119892841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119892834 119893068 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119906997 119909329 Gain and loss Pancreatic cancer SNP array 17952125 chrX 119952459 119952559 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 119975075 119975170 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 120109886 120450422 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 120156266 120204499 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 120193569 120193601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 120204499 121779551 LOH Normal High-resolution SNP genotyping 21211785 chrX 120204866 120266870 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 120266870 134248551 LOH Normal High-resolution SNP genotyping 21211785 chrX 120283841 120283897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 120309192 120309308 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 120311406 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 120391557 120395403 Gain and loss Pancreatic cancer SNP array 17952125 chrX 120700000 129800000 Copy number Normal - 21701786 chrX 120700000 146900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chrX 120700000 154913754 Gain Acute lymphoblastic leukemia array CGH 17690704 chrX 120723086 120723584 Gain and loss Pancreatic cancer SNP array 17952125 chrX 120736538 120768711 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 120749028 120749128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 120845973 120863860 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 12085628 12086496 Gain Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chrX 12087136 12087191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 120875877 120875940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 12088155 12088255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 12091989 12136760 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 120924976 120925063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 120968631 120968731 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121112708 121127016 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chrX 121124737 121150761 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 121257387 121257419 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 12137751 12137851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121398192 121398848 Gain and loss Pancreatic cancer SNP array 17952125 chrX 121415274 124565232 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 12155407 12155507 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121569219 121569329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121569358 121569521 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121699814 121700032 Gain and loss Pancreatic cancer SNP array 17952125 chrX 121702911 121703011 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121705684 121705765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121707953 121708038 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121734651 121772657 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121744507 121784019 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121755413 121791020 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121757004 121801405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 121760172 121816327 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121770162 121803754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121772657 125783348 LOH Normal High-resolution SNP genotyping 21211785 chrX 121775887 121808386 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121779551 121811149 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121779551 121816327 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121784019 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 121784019 125783348 LOH Normal High-resolution SNP genotyping 21211785 chrX 121791020 125400935 LOH Normal High-resolution SNP genotyping 21211785 chrX 121793667 121816327 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121795578 121817146 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 121803754 127648417 LOH Normal High-resolution SNP genotyping 21211785 chrX 121808386 134248551 LOH Normal High-resolution SNP genotyping 21211785 chrX 121811149 131587855 LOH Normal High-resolution SNP genotyping 21211785 chrX 121811149 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 121811149 131617746 LOH Normal High-resolution SNP genotyping 21211785 chrX 121816327 125386657 LOH Normal High-resolution SNP genotyping 21211785 chrX 121816327 125390693 LOH Normal High-resolution SNP genotyping 21211785 chrX 121816327 126400687 LOH Normal High-resolution SNP genotyping 21211785 chrX 121816327 127642794 LOH Normal High-resolution SNP genotyping 21211785 chrX 121816327 127661794 LOH Normal High-resolution SNP genotyping 21211785 chrX 121816327 139897880 LOH Normal High-resolution SNP genotyping 21211785 chrX 121817146 125390693 LOH Normal High-resolution SNP genotyping 21211785 chrX 121867001 121869000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 121869001 121875000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 121871442 121871542 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 121875001 121876500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 121876501 122461000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 121976356 121977144 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122013180 122013531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 122043693 122348328 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122078870 122121119 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 122117921 122144450 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 122121119 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 122143696 122144257 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 122144450 134247683 LOH Normal High-resolution SNP genotyping 21211785 chrX 122145776 122452447 Deletion Mental retardation PCR 20877625 chrX 122146739 122146839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122198101 122203100 Deletion Glioma mate-paired sequence 20126413 chrX 122200000 154900000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chrX 122200241 122201093 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 122235344 122268784 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 122331009 122363808 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 122363808 134142544 LOH Normal High-resolution SNP genotyping 21211785 chrX 122373859 122374263 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122410830 122456503 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 122421481 122421590 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122438003 122473169 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1224577 1225247 Copy number Autism exome sequencing 22495311 chrX 122461001 122462500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 122462501 122523000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 122470307 122592422 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122513379 122513479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122523001 122524500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 122524501 123294000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 122555391 122555491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122555899 122555999 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122595542 122595642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122631463 122631523 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122672243 122672343 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122690351 122888100 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 122690524 122963564 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 122703050 122799181 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 122716448 122716548 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122716449 122716548 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122719583 122773357 Gain and loss Pancreatic cancer SNP array 17952125 chrX 12272650 12318095 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 122733844 122733908 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122743190 122743248 Gain and loss Pancreatic cancer SNP array 17952125 chrX 122754632 122754732 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 12277111 12322470 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 122778923 122780534 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 122778925 122780533 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 122811767 122849967 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 122813365 122813465 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122821342 122875503 Gain or loss Breast cancer - 20668451 chrX 122821342 122875503 Gain or loss Cancer - 20668451 chrX 122821342 122875503 Gain or loss Lung cancer - 20668451 chrX 122821342 122875503 Gain or loss Ovarian cancer - 20668451 chrX 122821342 122875503 Gain or loss Pancreas cancer - 20668451 chrX 122821342 122875503 Gain or loss Prostate cancer - 20668451 chrX 122882013 122959982 Gain and loss Pancreatic cancer SNP array 17952125 chrX 12291222 12291296 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122920543 123009115 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrX 122922781 122922881 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 122947030 123004111 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chrX 122993024 122993117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 123014455 123048067 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chrX 123057128 123057235 Gain and loss Pancreatic cancer SNP array 17952125 chrX 123117887 123162591 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 12314401 12314500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 12318095 41780357 LOH Normal High-resolution SNP genotyping 21211785 chrX 12318421 12318519 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 123205729 123232539 Gain and loss Pancreatic cancer SNP array 17952125 chrX 123222016 123222086 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 123239877 123823201 Gain and loss Pancreatic cancer SNP array 17952125 chrX 123294001 123295500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 123295501 124164500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 123343305 123374496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 12344172 12346734 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 123497238 123498568 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 123556991 123557058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 123597599 123597699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 123809728 123809775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 123810950 123811109 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 123825747 123925507 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 123834670 123834765 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 123879966 123880116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 123911267 124039708 Deletion Oligozoospermia Array-CGH 20877625 chrX 12391846 12391973 Gain and loss Pancreatic cancer SNP array 17952125 chrX 123925507 128277353 LOH Normal High-resolution SNP genotyping 21211785 chrX 123943389 123943817 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 123967312 124038840 Copy number Lung cancer - 20668451 chrX 123967312 124038840 Gain or loss Breast cancer - 20668451 chrX 123967312 124038840 Gain or loss Cancer - 20668451 chrX 123967312 124038840 Gain or loss Lung cancer - 20668451 chrX 123967312 124038840 Gain or loss Ovarian cancer - 20668451 chrX 123967312 124038840 Gain or loss Pancreas cancer - 20668451 chrX 123967312 124038840 Gain or loss Prostate cancer - 20668451 chrX 123967312 124038840 Rearrangement Fibroblasts Affymetrix GeneChip, quantitative real-time PCR 20926602 chrX 123973678 123987227 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 124004691 124013198 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 124015280 124015380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124059249 124104406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 124164501 124168000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 124168001 124248500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 124186281 124187405 Gain and loss Pancreatic cancer SNP array 17952125 chrX 124248501 124250500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 124250501 124251500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 124251501 124280250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 124280251 124284500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 124282372 124282472 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124284501 125026500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 124296874 125546552 Copy number Alcoholism Illumina Human Hap721W-Quad BeadChip 21790672 chrX 124357976 124369649 Cn gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 124373522 124373622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124454426 124454511 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124468817 124468897 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124496492 124525829 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 124541039 124541139 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124561975 124562075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124565232 126920606 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 12456647 12456747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124718984 125295308 LOH Normal High-resolution SNP genotyping 21211785 chrX 124844038 124874210 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 12485352 12485452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124876622 124876722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1 24900000 Copy number Abnormal corpus callosum Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 1 24900000 Copy number Aicardi syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 1 24900000 Copy number Normal - 21701786 chrX 1 24900000 Copy number Opitz syndrome array-CGH 21569638 chrX 1 24900000 Copy number Opitz syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 1 24900000 Copy number Oro-facial digital syndrome array-CGH 21569638 chrX 1 24900000 Gain Glioblastoma multiforme conventional CGH 21080181 chrX 1 24900000 Gain Seminomas CGH, Comparative expressed sequence hybridisation 18059402 chrX 1 24900000 Loss Breast cancer Human 19K cDNA single-spot arrays 17603634 chrX 1 24900000 Loss T-cell lymphomas 250k GeneChip SNP array 19863542 chrX 124905392 124905627 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 124909513 124909608 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 124929706 125114918 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 124969965 124970065 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 125024051 125025460 Gain and loss Pancreatic cancer SNP array 17952125 chrX 125026501 125028500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 125028501 126623000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 125332009 125332254 Gain and loss Pancreatic cancer SNP array 17952125 chrX 125340415 125399344 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 125386657 125434443 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 125390693 125436846 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 125391424 125391524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 125396740 125429288 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 125400935 125445731 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 125408907 125412369 Gain and loss Pancreatic cancer SNP array 17952125 chrX 125411524 125452607 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 125415527 125455577 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 125426616 125444832 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 125431454 125465798 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 125434042 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 128274442 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 128278137 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 128299734 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 130816332 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 131617746 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 134142544 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 125434443 139885559 LOH Normal High-resolution SNP genotyping 21211785 chrX 125436846 128274442 LOH Normal High-resolution SNP genotyping 21211785 chrX 125436846 131586494 LOH Normal High-resolution SNP genotyping 21211785 chrX 125436846 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 125436846 132328500 LOH Normal High-resolution SNP genotyping 21211785 chrX 125445731 125497058 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 125445731 126685989 LOH Normal High-resolution SNP genotyping 21211785 chrX 125445731 128277353 LOH Normal High-resolution SNP genotyping 21211785 chrX 125445731 128299734 LOH Normal High-resolution SNP genotyping 21211785 chrX 125445731 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 125445731 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 125452607 128281330 LOH Normal High-resolution SNP genotyping 21211785 chrX 125452607 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 125452607 131592875 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 125452607 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 125455577 131587855 LOH Normal High-resolution SNP genotyping 21211785 chrX 125465798 128252287 LOH Normal High-resolution SNP genotyping 21211785 chrX 125465798 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 125497058 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 125508217 125540376 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 125588558 125588622 Gain and loss Pancreatic cancer SNP array 17952125 chrX 125589747 125589813 Gain and loss Pancreatic cancer SNP array 17952125 chrX 125589816 125589884 Gain and loss Pancreatic cancer SNP array 17952125 chrX 125591240 125591311 Gain and loss Pancreatic cancer SNP array 17952125 chrX 125612713 127946033 LOH Normal High-resolution SNP genotyping 21211785 chrX 125678030 125680570 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 125680280 125681026 Gain and loss Pancreatic cancer SNP array 17952125 chrX 12569188 12601996 Gain and loss Pancreatic cancer SNP array 17952125 chrX 125710578 125710678 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 125769436 125770845 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 125783348 125826466 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 125826466 128268782 LOH Normal High-resolution SNP genotyping 21211785 chrX 125826466 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 125852447 125883311 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 126030916 154404916 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chrX 126079879 126079959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126101200 126104058 Copy number Hematopoietic stem cell StepOnePlus Real-Time PCR System 20738155 chrX 126171328 126171428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126249853 126252056 Gain and loss Pancreatic cancer SNP array 17952125 chrX 126290680 126290839 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126290701 126290801 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126316751 126346960 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 126327865 126327935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126384282 126384320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126390767 126443595 Copy number Alcoholism Illumina Human Hap699W-Quad BeadChip 21790672 chrX 126400687 126455540 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 126400687 126455540 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 126408712 126441122 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 126412039 126412109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126423501 126431900 Deletion Glioma mate-paired sequence 20126413 chrX 126425441 126430081 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 126425442 126430077 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 12644863 12668156 Gain and loss Pancreatic cancer SNP array 17952125 chrX 126455540 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 126455540 154616855 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 126494149 126494239 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126623001 126625500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 126625501 127584000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 12672335 12672424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 126726833 126831793 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 126739620 126839814 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 126739620 126839814 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 126754042 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 126831793 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 126839814 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 126839814 139782242 LOH Normal High-resolution SNP genotyping 21211785 chrX 126839814 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 126840566 126840651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 12684415 12700941 Gain and loss Pancreatic cancer SNP array 17952125 chrX 126868603 127019222 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 126910590 126911720 Gain and loss Pancreatic cancer SNP array 17952125 chrX 126920606 127715190 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 126936474 126968776 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 126982298 126982374 Gain and loss Pancreatic cancer SNP array 17952125 chrX 126986425 126986525 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 126991040 127048658 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 126998854 127016776 Loss Normal 244K array 17666407 chrX 1 2705521 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1 2709012 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 127110198 127154482 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 127227878 127227969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 127259725 127260203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 127327637 127327712 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chrX 1 2743090 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 127574025 127575288 Gain and loss Pancreatic cancer SNP array 17952125 chrX 127584001 127585500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 127585501 128003000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 127642794 127692037 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 127648417 127712454 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 127655766 127655860 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 127656533 128663974 LOH Normal High-resolution SNP genotyping 21211785 chrX 127661794 127727210 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 127692037 131589419 LOH Normal High-resolution SNP genotyping 21211785 chrX 127712454 131588503 LOH Normal High-resolution SNP genotyping 21211785 chrX 127715190 128821932 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 12772541 12789379 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 127727210 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 12774466 12794655 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 12775199 12796709 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 127771126 127771223 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 127776988 127777088 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 127777857 127778007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 12789379 14769425 LOH Normal High-resolution SNP genotyping 21211785 chrX 12789379 15211499 LOH Normal High-resolution SNP genotyping 21211785 chrX 12789379 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 12794655 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 12795122 12818401 Gain or loss Breast cancer - 20668451 chrX 12795122 12818401 Gain or loss Cancer - 20668451 chrX 12795122 12818401 Gain or loss Lung cancer - 20668451 chrX 12795122 12818401 Gain or loss Ovarian cancer - 20668451 chrX 12795122 12818401 Gain or loss Pancreas cancer - 20668451 chrX 12795122 12818401 Gain or loss Prostate cancer - 20668451 chrX 12796709 15211499 LOH Normal High-resolution SNP genotyping 21211785 chrX 128003001 128005000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128005001 128565500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 1280133 1285411 Copy number Autism exome sequencing 22495311 chrX 128023226 128124482 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128046890 128052741 Loss Normal 244K array 17666407 chrX 12805554 12876694 Copy number Autism exome sequencing 22495311 chrX 128069897 128070044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128114754 128114844 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128124482 134678937 LOH Normal High-resolution SNP genotyping 21211785 chrX 12813394 12822458 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128135993 128169064 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 128148291 128154647 Deletion Medulloblastoma Illumina SNP arrays 21163964 chrX 128219862 128219985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128239868 128239960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128252287 128314009 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128260082 128260182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128268589 128268689 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128268782 128321566 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 12826928 12827028 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128271855 128324795 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128274442 128329100 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128275485 128275585 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128277353 128336048 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128278137 128339281 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128281330 128340419 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128284261 128345276 Copy number Alcoholism Illumina Human Hap691W-Quad BeadChip 21790672 chrX 128287735 128343323 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128296040 128296159 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128296042 128296159 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128299734 128358449 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128305245 128337347 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 128307821 128382882 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128314009 131587855 LOH Normal High-resolution SNP genotyping 21211785 chrX 128321566 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 128321566 131570183 LOH Normal High-resolution SNP genotyping 21211785 chrX 128324795 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 128328119 128330113 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 128329100 131587855 LOH Normal High-resolution SNP genotyping 21211785 chrX 128329100 132926959 LOH Normal High-resolution SNP genotyping 21211785 chrX 128336048 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 128336048 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 128336048 131617746 LOH Normal High-resolution SNP genotyping 21211785 chrX 128339281 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 128340419 132921955 LOH Normal High-resolution SNP genotyping 21211785 chrX 128343323 131587855 LOH Normal High-resolution SNP genotyping 21211785 chrX 12834678 12851209 Copy number Lung cancer - 20668451 chrX 12834678 12851209 Gain or loss Breast cancer - 20668451 chrX 12834678 12851209 Gain or loss Cancer - 20668451 chrX 12834678 12851209 Gain or loss Lung cancer - 20668451 chrX 12834678 12851209 Gain or loss Ovarian cancer - 20668451 chrX 12834678 12851209 Gain or loss Pancreas cancer - 20668451 chrX 12834678 12851209 Gain or loss Prostate cancer - 20668451 chrX 128352462 128352562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128358449 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 128358449 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 128358449 131617746 LOH Normal High-resolution SNP genotyping 21211785 chrX 12837171 12865909 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 128399785 128452063 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128423110 128467003 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 128423110 128467003 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 128423110 128689620 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 128426819 128460910 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 128436866 128436966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128445899 128501178 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128497479 130230012 LOH Normal High-resolution SNP genotyping 21211785 chrX 128501178 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 128501542 128501642 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128504861 128514449 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1 2855468 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 128565501 128567000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128567001 128612500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128584819 129311369 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 128598725 128627996 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128607389 128607489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128612501 128617500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128617501 128716000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128639495 128654709 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128653281 128653381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128664449 128703377 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128674548 128719955 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 128704641 131071836 LOH Normal High-resolution SNP genotyping 21211785 chrX 128710767 128710862 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128716001 128763500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128741381 128765056 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 128741846 128772723 Deletion Mental retardation Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 128763501 128894500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128765694 128789262 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128821932 129134090 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 128833924 129134268 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 128864743 128917150 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128894501 128896500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128896501 128912000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128908396 128953269 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 128912001 128923500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128920146 128920193 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 128923501 128974000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128924393 128970188 Gain and loss Pancreatic cancer SNP array 17952125 chrX 128974001 128978000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128978001 129027000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 128988872 129025343 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129027001 129088000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 129031181 129044381 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129047550 129047639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 129062226 129128408 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129071647 129072996 Copy number Alcoholism Illumina Human Hap713W-Quad BeadChip 21790672 chrX 129088001 129490500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 129134090 136058322 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 129136453 129136508 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 129169581 129169687 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129169582 129169687 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129172284 129172349 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 129177815 129254419 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 129199558 129232870 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129243949 129244956 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129254419 130182764 LOH Normal High-resolution SNP genotyping 21211785 chrX 129254419 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 129261759 129273035 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129354450 129356267 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129367480 129367809 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 129410000 131140000 Loss Breast cancer aCGH 21509527 chrX 12947256 12980418 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 129482890 129762743 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129490501 129493500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 129492184 129492263 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chrX 129493501 130029000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 129495291 129496564 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 129525068 129525268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 129800000 130300000 Copy number Normal - 21701786 chrX 129800000 137800000 Copy number X-linked heterotaxy array-CGH 21569638 chrX 129800000 137800000 Deletion Non-syndromic sensorineural hearing loss PCR 16835902 chrX 129800000 154913754 Copy number Premature ovarian failure aCGH 20952765 chrX 12980648 12980702 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 129807782 129807932 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 129917751 129949388 Gain and loss Pancreatic cancer SNP array 17952125 chrX 129935117 129935217 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 129993595 129993898 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130029001 130031000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 130031001 130984500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 130063607 130064519 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130103625 130103725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130133020 130148790 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130171339 130171439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130183900 130258499 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130196367 130196467 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130205710 130205780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130300000 133500000 Copy number Normal - 21701786 chrX 130355238 130358696 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 130374101 130374181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130387579 130846282 Copy number Alcoholism Illumina Human Hap698W-Quad BeadChip 21790672 chrX 130403583 130404509 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130414811 130414893 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130590097 130880717 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 130608380 130608480 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130635989 131647539 LOH Normal High-resolution SNP genotyping 21211785 chrX 130651033 130651133 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130655337 130655692 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130693504 130717943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 130728770 130728914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130776128 133514955 LOH Normal High-resolution SNP genotyping 21211785 chrX 130798416 130798518 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130798430 130798518 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130816332 130846794 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 130816332 130846794 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 130816825 130848171 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 130826545 130849545 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 130826545 130849545 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 130846794 140638780 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 131589419 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 131592875 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 131592875 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 132921955 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 134023373 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 134142544 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 134142544 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 134248551 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 134668720 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 136418682 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 139963455 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 140177729 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 140177729 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 140653112 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 140659765 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 142955860 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 150432243 LOH Normal High-resolution SNP genotyping 21211785 chrX 130849545 151599726 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 151975039 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 152823680 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 154608206 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130849545 154616855 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 130882862 130935506 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130917060 130917285 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 130925642 130925742 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 130933527 130933598 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 130936558 130987585 Gain and loss Pancreatic cancer SNP array 17952125 chrX 13096643 13097683 Gain and loss Pancreatic cancer SNP array 17952125 chrX 130984501 130986000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 130986001 131918500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 130992361 134304975 LOH Normal High-resolution SNP genotyping 21211785 chrX 131006508 131006569 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 131062588 131077724 Gain and loss Pancreatic cancer SNP array 17952125 chrX 131135045 131135138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 131184566 131184666 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 131209271 131209371 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 131222149 131222198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 131237714 131299253 Gain and loss Pancreatic cancer SNP array 17952125 chrX 131259901 131259975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 131413847 131439663 Deletion Sertoli-cell only syndrome Array-CGH 20877625 chrX 131439682 131439786 Gain and loss Pancreatic cancer SNP array 17952125 chrX 131468893 131495763 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 131487786 131818156 Gain and loss Pancreatic cancer SNP array 17952125 chrX 131520081 132973181 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 131537020 136943212 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 131586494 131623204 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 131587855 131628609 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 131588503 131638635 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 131589419 131657690 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 131592875 131663200 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 131617728 131617771 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 131617746 131669397 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 131618705 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 131623204 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 131625045 131625145 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 131628609 132921955 LOH Normal High-resolution SNP genotyping 21211785 chrX 131628609 132926959 LOH Normal High-resolution SNP genotyping 21211785 chrX 131628609 134247791 LOH Normal High-resolution SNP genotyping 21211785 chrX 131628609 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 131628609 138560141 LOH Normal High-resolution SNP genotyping 21211785 chrX 131628609 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 131633137 131666491 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 131638635 134668720 LOH Normal High-resolution SNP genotyping 21211785 chrX 131657690 132921955 LOH Normal High-resolution SNP genotyping 21211785 chrX 131657690 133766310 LOH Normal High-resolution SNP genotyping 21211785 chrX 131657690 134142544 LOH Normal High-resolution SNP genotyping 21211785 chrX 131657690 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 131663200 132332063 LOH Normal High-resolution SNP genotyping 21211785 chrX 131663200 132921955 LOH Normal High-resolution SNP genotyping 21211785 chrX 131663200 134188939 LOH Normal High-resolution SNP genotyping 21211785 chrX 131663200 134248551 LOH Normal High-resolution SNP genotyping 21211785 chrX 131663200 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 131663200 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 131663200 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 131663200 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 131663200 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 131669397 132325152 LOH Normal High-resolution SNP genotyping 21211785 chrX 131669397 132921955 LOH Normal High-resolution SNP genotyping 21211785 chrX 131669397 134142544 LOH Normal High-resolution SNP genotyping 21211785 chrX 131669397 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 1317001 1481000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 131754562 131785898 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 131811444 131811826 Loss Normal 244K array 17666407 chrX 131813829 131847621 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 131862339 131862423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 131885027 131887768 Gain and loss Pancreatic cancer SNP array 17952125 chrX 131918501 131922000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 131922001 133506500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 131936809 131981445 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 131986719 132058801 Copy number Lung cancer - 20668451 chrX 131986719 132058801 Gain or loss Breast cancer - 20668451 chrX 131986719 132058801 Gain or loss Cancer - 20668451 chrX 131986719 132058801 Gain or loss Lung cancer - 20668451 chrX 131986719 132058801 Gain or loss Ovarian cancer - 20668451 chrX 131986719 132058801 Gain or loss Pancreas cancer - 20668451 chrX 131986719 132058801 Gain or loss Prostate cancer - 20668451 chrX 132012302 132012440 Gain and loss Pancreatic cancer SNP array 17952125 chrX 132076590 132077627 Gain and loss Pancreatic cancer SNP array 17952125 chrX 132098124 132098364 Gain and loss Pancreatic cancer SNP array 17952125 chrX 132098203 132098364 Gain and loss Pancreatic cancer SNP array 17952125 chrX 132124473 132157897 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 132160584 132274725 Gain and loss Pancreatic cancer SNP array 17952125 chrX 132188724 132223232 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 132260326 132260426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 132325152 132400777 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 132328500 132407618 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 132332063 132415408 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 132367695 132367795 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 132391271 132391374 Gain and loss Pancreatic cancer SNP array 17952125 chrX 132395302 132845186 Gain and loss Pancreatic cancer SNP array 17952125 chrX 132400777 140499010 LOH Normal High-resolution SNP genotyping 21211785 chrX 132407618 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 132415408 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 1 3243111 Deletion Cancer Affymetrix 250K Sty array 20164920 chrX 13246688 13248447 Copy number Lung cancer - 20668451 chrX 13246688 13248447 Gain or loss Breast cancer - 20668451 chrX 13246688 13248447 Gain or loss Cancer - 20668451 chrX 13246688 13248447 Gain or loss Lung cancer - 20668451 chrX 13246688 13248447 Gain or loss Ovarian cancer - 20668451 chrX 13246688 13248447 Gain or loss Pancreas cancer - 20668451 chrX 13246688 13248447 Gain or loss Prostate cancer - 20668451 chrX 13247332 13297442 Copy number Autism exome sequencing 22495311 chrX 132497441 132947332 Gain or loss Breast cancer - 20668451 chrX 132497441 132947332 Gain or loss Cancer - 20668451 chrX 132497441 132947332 Gain or loss Lung cancer - 20668451 chrX 132497441 132947332 Gain or loss Ovarian cancer - 20668451 chrX 132497441 132947332 Gain or loss Pancreas cancer - 20668451 chrX 132497441 132947332 Gain or loss Prostate cancer - 20668451 chrX 13252082 13314933 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 132530516 132530934 Gain and loss Pancreatic cancer SNP array 17952125 chrX 132581542 132581598 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 132628585 132628685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 13271315 13271415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 132748778 132748874 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 132769230 134070559 Loss Non-syndromic sensorineural hearing loss array CGH 18496225 chrX 132828676 132828770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 132921955 133044922 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 132926959 133068800 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 132927789 132927864 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1329991 1330208 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 133001780 133001890 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133001784 133001889 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133028928 133029002 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133029088 133029162 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133029221 133029316 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133029359 133029427 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133029587 133029667 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133029591 133029661 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133029748 133029828 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133044922 134142544 LOH Normal High-resolution SNP genotyping 21211785 chrX 133044922 134214928 LOH Normal High-resolution SNP genotyping 21211785 chrX 133044922 134678937 LOH Normal High-resolution SNP genotyping 21211785 chrX 133044922 140659765 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 133044922 140659765 LOH Normal High-resolution SNP genotyping 21211785 chrX 133044922 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 133044922 151646489 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 133044922 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 133044922 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 133068800 134512709 LOH Normal High-resolution SNP genotyping 21211785 chrX 133068800 134668720 LOH Normal High-resolution SNP genotyping 21211785 chrX 133068800 140653112 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 13309014 13343400 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 133095916 133095976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 133131074 133131148 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 133131234 133131308 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 133131367 133131462 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 133131505 133131573 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 133132203 133132840 Gain and loss Pancreatic cancer SNP array 17952125 chrX 13314933 16140714 LOH Normal High-resolution SNP genotyping 21211785 chrX 133181502 133226444 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1332141 13362364 Copy number Autism exome sequencing 22495311 chrX 133221899 133224867 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 133232862 133288339 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133319777 133360216 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1333508 1339088 Copy number Autism exome sequencing 22495311 chrX 133385831 133385970 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133399891 133399981 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133400058 133400157 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133404099 133404353 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133405878 133405948 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133406164 133406261 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133421840 133462364 Gain Non-syndromic sensorineural hearing loss PCR 17015725 chrX 133425393 133518033 Gain and loss Pancreatic cancer SNP array 17952125 chrX 13343400 14849634 LOH Normal High-resolution SNP genotyping 21211785 chrX 13343400 16169672 LOH Normal High-resolution SNP genotyping 21211785 chrX 133461536 133462037 Deletion Lesch-Nyhan syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 13347381 13411350 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133500000 137800000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 133500000 137800000 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chrX 133500000 137800000 Copy number Normal - 21701786 chrX 133500000 137800000 Insert Congenital Hypertrichosis Syndrome Fluorescence in situ hybridization (FISH) 21636067 chrX 133505638 133517943 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 133506501 133508500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 133508501 134055500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 133532061 133532148 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 133619756 133619898 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133619760 133619898 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133629117 133656755 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133666744 133714136 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133683590 133683645 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 13374012 13374247 Gain and loss Pancreatic cancer SNP array 17952125 chrX 13374012 13374331 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133747182 133774817 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133758817 133758916 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 133766310 133840388 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 133777860 133777966 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133821329 133821858 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133827091 133827191 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 133840388 134677068 LOH Normal High-resolution SNP genotyping 21211785 chrX 133850488 133851294 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133878531 133878626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 13387939 13387971 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 133881064 133881692 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133891916 133893093 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133910710 133911057 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133920479 133930988 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 133926407 134223835 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 133952633 133954166 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chrX 133954578 133958184 Gain and loss Pancreatic cancer SNP array 17952125 chrX 133973631 134019551 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 133982199 133984232 Deletion Melanoma Comparative genomic arrays (CGH) 20877625 chrX 133989169 133989719 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 134006725 134006799 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134015983 134031271 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134019551 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 134042682 134042754 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134055501 134061000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 134061001 134305000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 134115516 134160979 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 134120502 134157976 Duplication Oligozoospermia Array-CGH 20877625 chrX 134124304 134159698 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 134129743 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 134142544 134247986 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134145240 134203477 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134204241 134222858 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134214928 134257651 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134247384 134254243 Deletion Mental retardation PCR 20877625 chrX 134247683 134294391 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134247791 134297017 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134247986 134668338 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134247986 138621105 LOH Normal High-resolution SNP genotyping 21211785 chrX 134247986 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 134247986 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 134247986 151599726 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134247986 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134247986 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134248551 134300187 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134248551 141143310 LOH Normal High-resolution SNP genotyping 21211785 chrX 134257651 138596108 LOH Normal High-resolution SNP genotyping 21211785 chrX 134257651 142939434 LOH Normal High-resolution SNP genotyping 21211785 chrX 134257651 145857027 LOH Normal High-resolution SNP genotyping 21211785 chrX 134266238 134365594 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 13427248 13427338 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134281377 134285200 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134287611 134287729 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134287613 134287729 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134297017 142939434 LOH Normal High-resolution SNP genotyping 21211785 chrX 134305001 134307000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 134305293 134325004 Deletion Mental retardation PCR 20877625 chrX 134307001 134352000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 13430774 13431190 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134319984 134320019 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134328057 134628224 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 134328057 134703510 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 134347350 134349953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 134352001 134364000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 134364001 134383000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 134380069 134441954 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134383001 134388500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 134388501 134394500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 134394501 134400500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 134400501 136337000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 13440271 13443182 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134408736 134703510 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 134423050 134423120 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134443102 134444605 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134482220 134544126 Deletion Intellectual disability 100k SNP Array 21811512 chrX 134510000 134980000 Loss Breast cancer aCGH 21509527 chrX 134512709 134680545 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134532826 134533920 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134549966 134874484 Copy number Alcoholism Illumina Human Hap717W-Quad BeadChip 21790672 chrX 134559944 134612124 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 134560447 134680545 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134575462 134628759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 134576408 134631535 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1345794 1349552 Copy number Autism exome sequencing 22495311 chrX 134583409 134587748 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 134587565 134589227 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 134587595 134703510 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 134587595 134703510 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 134587595 134880261 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 134591734 134599767 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134600709 134628136 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrX 134605006 134605104 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134659483 134716405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 134661699 134661796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134668338 134732901 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134668720 134734618 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134673724 134731661 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 134674948 134737876 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134674948 134824781 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134675270 134738339 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134676299 134718802 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chrX 134677068 134741647 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134678937 134776189 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134678937 134824781 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134680545 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 134701305 134720739 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134716258 134716358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134717308 134717387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134731558 134731684 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 134732901 137326687 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 137394118 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 139802478 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 139890630 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 139903481 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 139963455 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 140554916 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134732901 140554916 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 140653112 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134732901 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 140659765 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134732901 140659765 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134732901 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 142955974 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 145857027 LOH Normal High-resolution SNP genotyping 21211785 chrX 134732901 151573312 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134732901 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134732901 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134732901 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134734618 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 134734618 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 134737876 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 134737876 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 134738339 138592859 LOH Normal High-resolution SNP genotyping 21211785 chrX 134741647 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 134760888 134796563 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chrX 134769751 134781654 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1347700 1388827 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 chrX 134776189 146143989 LOH Normal High-resolution SNP genotyping 21211785 chrX 134778054 134778154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 134793145 134854936 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134820207 134883579 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134821695 134887796 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 134824781 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 134824781 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 13486523 13487128 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134883579 140815902 LOH Normal High-resolution SNP genotyping 21211785 chrX 134885555 134886310 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134887796 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 13490023 13512384 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134905179 134906027 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134941999 134942099 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134943429 134943487 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 134949397 136954675 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 134955200 135019028 Gain and loss Pancreatic cancer SNP array 17952125 chrX 134962600 134993691 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 134985649 134985979 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1350085 1350266 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 135025923 135059122 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135049221 146524207 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chrX 135052152 135099666 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 135098223 135098292 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135099666 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 13512537 13547127 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135130576 135244735 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135204482 140853096 Insert Congenital Hypertrichosis Syndrome Fluorescence in situ hybridization (FISH) 21636067 chrX 135222694 135222794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135259012 135259112 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135295645 135300118 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135296869 135296901 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135305191 135320006 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135339831 135364483 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135360661 135360749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135379385 135379494 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135379386 135379494 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135390919 135391018 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135424574 135424674 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135455889 135468069 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135473234 135589023 Gain and loss Pancreatic cancer SNP array 17952125 chrX 13548719 13716488 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135494338 135528273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1355172 1396299 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135556049 135556113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135581678 135581779 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135598738 135599459 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135609831 135609931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135624158 135624253 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135624159 135624253 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135681148 135688404 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135686878 135686950 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135715955 135717979 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1357577 1359169 Copy number Autism exome sequencing 22495311 chrX 135782092 135790605 Deletion Glioblastoma multiforme Genechip Human Mapping 100K arrays 21390271 chrX 135829070 135829162 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135837827 135839353 Gain and loss Pancreatic cancer SNP array 17952125 chrX 135846384 135891970 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 135847357 135847452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 135898042 135898142 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136058322 137108308 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 13608166 13608251 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 13617261 13637685 Gain or loss Breast cancer - 20668451 chrX 13617261 13637685 Gain or loss Cancer - 20668451 chrX 13617261 13637685 Gain or loss Lung cancer - 20668451 chrX 13617261 13637685 Gain or loss Ovarian cancer - 20668451 chrX 13617261 13637685 Gain or loss Pancreas cancer - 20668451 chrX 13617261 13637685 Gain or loss Prostate cancer - 20668451 chrX 136248937 136249515 Gain and loss Pancreatic cancer SNP array 17952125 chrX 136307455 136307550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136330470 136330536 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136336652 136371272 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 136337001 136339500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 136339501 136455500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 136349643 136349841 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136362078 136362178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136373866 136379775 Gain and loss Pancreatic cancer SNP array 17952125 chrX 136402944 136403226 Gain and loss Pancreatic cancer SNP array 17952125 chrX 136418682 136479268 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 136441125 136441225 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136448765 136448850 Gain and loss Pancreatic cancer SNP array 17952125 chrX 136455501 136485000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 136479268 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 136485001 137390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 136495570 136495673 Gain and loss Pancreatic cancer SNP array 17952125 chrX 136595409 136595509 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136615872 136615972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136672079 136773671 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 136685979 136686284 Loss Normal 244K array 17666407 chrX 136708999 137184392 Loss Normal 244K array 17666407 chrX 136773671 139877202 LOH Normal High-resolution SNP genotyping 21211785 chrX 136773671 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 136957169 136957278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 136957287 136957387 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1369701 13662753 Copy number Autism exome sequencing 22495311 chrX 13698982 13866752 Deletion Mental retardation PCR 20877625 chrX 137098850 137099072 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 137167266 137198012 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 137290423 137291379 Gain and loss Pancreatic cancer SNP array 17952125 chrX 137304556 137304656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 137326687 137400085 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 137330959 137362607 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 137332481 142098649 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 13734819 13734914 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 137367912 137367987 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 137390501 137393000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 137391039 137391117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 137393001 137620000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 137394118 137433076 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 137400085 142979718 LOH Normal High-resolution SNP genotyping 21211785 chrX 137424387 137424758 Gain and loss Pancreatic cancer SNP array 17952125 chrX 137433076 142955860 LOH Normal High-resolution SNP genotyping 21211785 chrX 137439255 137547035 Gain and loss Pancreatic cancer SNP array 17952125 chrX 137475392 137475474 Gain and loss Pancreatic cancer SNP array 17952125 chrX 137505600 143010932 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 137541400 138114818 Gain or loss Breast cancer - 20668451 chrX 137541400 138114818 Gain or loss Cancer - 20668451 chrX 137541400 138114818 Gain or loss Lung cancer - 20668451 chrX 137541400 138114818 Gain or loss Ovarian cancer - 20668451 chrX 137541400 138114818 Gain or loss Pancreas cancer - 20668451 chrX 137541400 138114818 Gain or loss Prostate cancer - 20668451 chrX 137541401 137649181 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 137620001 137622000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 137622001 137913500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 137633209 143372580 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 chrX 137633209 143372580 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 137667895 137667989 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 137702377 140524120 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 chrX 137702377 140524120 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 137716202 137716994 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 137718449 137751971 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 137800000 140100000 Copy number Normal - 21701786 chrX 137800000 146900000 Copy number Fragile x array-CGH 21569638 chrX 137800000 154913754 Copy number Abnormal corpus callosum Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 137800000 154913754 Gain Glioblastoma multiforme conventional CGH 21080181 chrX 137817857 137817971 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 13786063 13807668 Gain and loss Pancreatic cancer SNP array 17952125 chrX 137863600 138660733 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 chrX 137863600 138660733 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 137913501 137915000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 137915001 138112500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 137974085 137974362 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 137985443 137985532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 137985653 137985842 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 138050137 138050197 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 138062142 138062203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 138112501 138115500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 138115501 139413500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 138169779 138169988 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138177191 138210740 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 138212561 138212886 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1 382500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 138271765 138272307 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138311128 138311203 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 138337648 138337748 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 138338415 138371137 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138356541 138358898 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138376503 138376603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 138389450 138459423 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138414207 138414276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 138440560 138473283 Deletion Haemophilia References 22138850 chrX 138440560 138473283 Insertion Hemophilia B References 22138850 chrX 138440561 138473283 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138491596 138618047 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138509968 138510069 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138534028 138639967 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138541240 138576625 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 138549326 138716662 Gain Autism qPCR 20531469 chrX 138556308 139102322 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 chrX 138560141 138589228 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 138589228 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 138592859 138666289 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 138596108 138671522 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 138621105 138695815 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 138630404 138630607 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138636171 138742113 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138666289 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 138671522 140659765 LOH Normal High-resolution SNP genotyping 21211785 chrX 138674377 138708070 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 138693160 138693281 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138695815 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 138717583 138717713 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138717609 138717713 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138731827 138731910 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138736307 138759258 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 138769630 138769951 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 138780982 138781082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 138807831 138807931 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 138827832 138863075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 138833972 138834055 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138840090 138841162 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138865550 138875345 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138869298 138869377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 138873463 138873595 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 138893537 138893829 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138899461 138900243 Gain and loss Pancreatic cancer SNP array 17952125 chrX 138927087 138927864 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 138942029 138943795 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 139001492 139002736 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 1391218 13914891 Copy number Autism exome sequencing 22495311 chrX 139125851 139126622 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 139159527 139188285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 139218002 139234321 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 139258834 139258892 Gain and loss Pancreatic cancer SNP array 17952125 chrX 139306993 139307824 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 139311405 139312745 Gain and loss Pancreatic cancer SNP array 17952125 chrX 139322109 139338525 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 139322109 139338525 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 139323684 139360526 Copy number Alcoholism Illumina Human Hap712W-Quad BeadChip 21790672 chrX 139343062 139400605 Loss Normal 244K array 17666407 chrX 139411093 139455896 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 139412817 139414891 Deletion,duplication Disorders of sex development - 22290220 chrX 139412818 139414891 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 139413501 139419000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 139419001 148377250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 139419287 139419327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 139421081 139624662 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 13947665 13955492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 139498371 139498441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 139502951 139502958 Insert Congenital Hypertrichosis Syndrome Fluorescence in situ hybridization (FISH) 21636067 chrX 139539282 139539355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 139583913 139584127 Gain and loss Pancreatic cancer SNP array 17952125 chrX 139591263 139592051 Gain and loss Pancreatic cancer SNP array 17952125 chrX 139625484 139640599 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 139665686 139665786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 139679719 139679819 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 139693091 139694389 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 139706586 139904507 Duplication Oligozoospermia Array-CGH 20877625 chrX 139711783 139870206 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 139711783 140193494 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 139711783 140501009 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 13975292 13975339 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 139782242 139806995 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 139782242 139806995 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 139799072 139845329 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 139800000 139900000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 139802478 139829250 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 139803623 139809299 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 139806995 140638780 LOH Normal High-resolution SNP genotyping 21211785 chrX 139807686 139844931 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 139809153 139821600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 139810276 139811391 Gain and loss Pancreatic cancer SNP array 17952125 chrX 139829250 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 139877202 140029924 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 139885559 139963455 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 139890630 140046473 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 139892302 139904166 Gain and loss Pancreatic cancer SNP array 17952125 chrX 139897880 140057702 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1 39900000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chrX 139903481 140061975 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 139912422 139913537 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 139917200 140610756 Copy number Alcoholism Illumina Human Hap718W-Quad BeadChip 21790672 chrX 139924427 139925545 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 139937735 139937841 Gain and loss Pancreatic cancer SNP array 17952125 chrX 139958183 139958878 Gain and loss Pancreatic cancer SNP array 17952125 chrX 139960914 139961006 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 139963455 140073527 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 139963455 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 139996286 139996726 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140029924 140637131 LOH Normal High-resolution SNP genotyping 21211785 chrX 14003091 14003123 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 140046473 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 140057702 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 140060218 140061190 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140061119 140062380 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140061975 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 140063593 140063693 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 140073527 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 140080727 140083837 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140097596 140098976 Deletion Mental retardation qPCR 20877625 chrX 140097596 140098976 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140100000 154913754 Duplication Congenital abnormalities BAC array CGH platform 21549014 chrX 140100000 154913754 Duplication Developmental delay BAC array CGH platform 21549014 chrX 140100000 154913754 Duplication Mental retardation BAC array CGH platform 21549014 chrX 140163261 140164312 Microdeletion Azoospermia PCR 21209805 chrX 140163261 140164312 Microdeletion infertile two-step sequence-tagging site (STS) 17158590 chrX 140163261 140164312 Microdeletions infertile two-step sequence-tagging site (STS) 17158590 chrX 140163262 140164312 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140185124 140186001 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140203364 140203475 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 14021982 14023201 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140275598 140275698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 140277352 140277489 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 140302507 140303107 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140304396 140306892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 14031326 14031426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 140316461 140328392 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140319722 140501009 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 140336597 140420562 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 140368147 140559532 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 14038663 14074679 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 140393118 140393212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 140397329 140398590 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140399887 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140399887 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 1 40412672 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chrX 140418515 140565735 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140427650 140427714 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 140458240 140460006 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 140499010 140609010 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 140499010 140609010 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 140499472 140500502 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140505498 140506567 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140511091 140512353 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140541651 140554453 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140606505 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140609010 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140613234 140614264 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140637131 140694480 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 140637131 140694954 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 140638780 140689492 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 140651622 140711138 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140653112 140694954 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 140659765 140717441 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 140671177 140727710 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 140689492 145863953 LOH Normal High-resolution SNP genotyping 21211785 chrX 140689492 150011083 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694480 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 141328390 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 142598347 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 142935589 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 142952386 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 142955860 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 142955974 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 142979718 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 143001150 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 145831590 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 145854586 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 145857027 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 145859083 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 146151645 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 148673448 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140694954 150023555 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 151573312 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140694954 151599726 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140694954 153066394 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140694954 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140694954 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 154608206 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140694954 154608206 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140694954 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 140694954 154616855 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140694954 154616855 LOH Normal High-resolution SNP genotyping 21211785 chrX 140717441 142955860 LOH Normal High-resolution SNP genotyping 21211785 chrX 140717441 145854586 LOH Normal High-resolution SNP genotyping 21211785 chrX 140717441 151650761 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140717441 153058122 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140717441 153066394 LOH Normal High-resolution SNP genotyping 21211785 chrX 140717441 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140717441 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 140717441 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140717441 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 140718714 140722139 Gain and loss Pancreatic cancer SNP array 17952125 chrX 140727710 142939434 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 142945674 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 142955860 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 142955974 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 142961058 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 142979718 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 143001150 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 143023674 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 145831590 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 145838672 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 145854586 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 145857027 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 145859083 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 145860077 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 145863953 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 148418114 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 149680371 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 150041521 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 150409541 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 150432243 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 151599726 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140727710 151975039 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 154274768 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140727710 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140727710 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140727710 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140727710 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 154608206 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140727710 154608206 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140727710 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 140727710 154626443 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140727710 154883804 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 140730334 140730434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 140753768 140813284 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140815902 140831660 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 140819346 140824849 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 140831660 154913754 LOH Normal High-resolution SNP genotyping 21211785 chrX 140848535 140848635 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 141015651 141018598 Gain and loss Pancreatic cancer SNP array 17952125 chrX 141063478 141091530 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 141117796 141120742 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 141143310 141158232 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 141158232 145863953 LOH Normal High-resolution SNP genotyping 21211785 chrX 141158232 150432243 LOH Normal High-resolution SNP genotyping 21211785 chrX 141158232 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 141158232 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 141182203 141182303 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 141194638 141213393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 141224359 141224477 Gain and loss Pancreatic cancer SNP array 17952125 chrX 141224359 141224479 Gain and loss Pancreatic cancer SNP array 17952125 chrX 141242821 143555236 Deletion Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chrX 141253352 141253428 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 141286060 141286160 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 141328390 141390870 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 14133549 14166270 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 141349352 141374234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 14135482 14135557 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 141390870 145857972 LOH Normal High-resolution SNP genotyping 21211785 chrX 141438718 141438818 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1415508 1461582 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 chrX 1415800 1663566 Deletion Bipolar disorder Affymetrix SNP 6.0 SNP and CNV platform 19114987 chrX 141581195 141614983 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 141595220 141794235 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 141687268 141687365 Gain and loss Pancreatic cancer SNP array 17952125 chrX 141698421 141772408 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 141708538 141708638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 141839321 141847552 Gain and loss Pancreatic cancer SNP array 17952125 chrX 141900000 146900000 Copy number Normal - 21701786 chrX 141903653 141903981 Gain and loss Pancreatic cancer SNP array 17952125 chrX 141903653 141903983 Gain and loss Pancreatic cancer SNP array 17952125 chrX 141941370 141949732 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 141978128 142009312 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 142009565 142009691 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 142010576 142010897 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142010658 142010897 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142025610 142025728 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 142141144 142141222 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142154641 142154725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142243241 142243311 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142244234 142244300 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142246279 142246350 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142247272 142247340 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142247338 142247409 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142247789 142247845 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142274697 148581595 Gain Mental retardation Affymetrix GeneChip Human Mapping 238K NspI 20486941 chrX 142274899 142322405 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 142310377 142344107 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 142346358 142371537 Loss Normal 244K array 17666407 chrX 142387060 142418475 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 142389617 142393122 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 142422107 142422207 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142424230 142432973 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 142441464 142449116 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142456794 142456894 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142475148 142475248 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142510323 142511589 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 142520700 142529282 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142543584 142550685 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 14256273 14256358 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142587891 142589106 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 142598347 142636704 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142622721 142632182 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 142667869 142667969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142692723 142693184 Gain and loss Pancreatic cancer SNP array 17952125 chrX 142693976 142694038 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 142721712 142721750 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142723999 142724058 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142794839 142796028 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 142881561 142882725 Loss Normal 244K array 17666407 chrX 142884000 143022038 Duplication Non-syndromic sensorineural hearing loss References 19212409 chrX 142935589 143023674 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142939434 143051366 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142945674 143082834 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142952386 143097323 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142955860 143112209 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142955974 143128831 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142961058 143133308 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142963681 142963781 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 142979718 143139547 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 142983343 142983430 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1 4300000 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chrX 1 4300000 Deletion Autism from references 18923514 chrX 1 4300000 Deletion Autism high-density microarrays 22241247 chrX 1 4300000 Deletion Normal high-density microarrays 22241247 chrX 1 4300000 Deletion Tourette syndrome from references 18923514 chrX 1 4300000 Duplication Premature ovarian failure aCGH 20952765 chrX 1 4300000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chrX 1 4300000 Loss Prader-willi syndrome SignatureChip OS2.0 manufactured for Signature Genomic Laboratories 20588305 chrX 143001150 143171660 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 143022726 154913754 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 143023674 143145501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 143023674 145863953 LOH Normal High-resolution SNP genotyping 21211785 chrX 143026882 143027364 Loss Normal 244K array 17666407 chrX 143051366 145857027 LOH Normal High-resolution SNP genotyping 21211785 chrX 143051366 145860077 LOH Normal High-resolution SNP genotyping 21211785 chrX 143051366 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 14307301 14509588 Gain and loss Pancreatic cancer SNP array 17952125 chrX 143082834 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 143097323 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 143108868 143140127 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 143112209 144957189 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 145831590 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 145854586 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 145857027 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 145859083 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 145860077 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 145863953 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 146139777 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 146143178 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 146159169 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 150726554 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 153058122 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 143112209 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 143128831 145854586 LOH Normal High-resolution SNP genotyping 21211785 chrX 143128831 145859083 LOH Normal High-resolution SNP genotyping 21211785 chrX 143128831 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 143128831 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 143133308 145859083 LOH Normal High-resolution SNP genotyping 21211785 chrX 143133308 146143178 LOH Normal High-resolution SNP genotyping 21211785 chrX 143133308 151646489 LOH Normal High-resolution SNP genotyping 21211785 chrX 143133308 153054237 LOH Normal High-resolution SNP genotyping 21211785 chrX 143133308 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 143139547 145857027 LOH Normal High-resolution SNP genotyping 21211785 chrX 143139547 150409541 LOH Normal High-resolution SNP genotyping 21211785 chrX 143139547 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 143145501 145859083 LOH Normal High-resolution SNP genotyping 21211785 chrX 143155779 143155957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 143171660 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 143171660 154274768 LOH Normal High-resolution SNP genotyping 21211785 chrX 143219843 143220608 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 143234656 143237654 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 143237966 143238060 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chrX 143352181 143385759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 143384195 143411322 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 143384228 143384328 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 143430213 143448884 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 143503330 143503430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 14354874 14399995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 143599714 143599809 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 143650972 143651278 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 143723162 143723321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 143727135 143748649 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chrX 143732552 143777992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 143783160 143783238 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 143844174 143844413 Gain and loss Pancreatic cancer SNP array 17952125 chrX 143844174 143844505 Gain and loss Pancreatic cancer SNP array 17952125 chrX 143862539 144700135 LOH Normal High-resolution SNP genotyping 21211785 chrX 143901839 143901939 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 14394721 14426729 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 144103927 147969173 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 144130322 144130922 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 144142623 144142688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1442198 1442607 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chrX 144227801 144234000 Deletion Glioma mate-paired sequence 20126413 chrX 144229767 144232197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 144237406 144237501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 144417276 144419487 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1444 1911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 144511717 144545304 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 144601194 144601294 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 144607803 144612904 Gain and loss Pancreatic cancer SNP array 17952125 chrX 144614474 144616914 Gain and loss Pancreatic cancer SNP array 17952125 chrX 144645987 144646087 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 14472702 14472802 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 144737674 146475670 LOH Normal High-resolution SNP genotyping 21211785 chrX 1448 1461 Deletion Rett syndrome Polymerase chain reaction (PCR)amplification 18810657 chrX 144827517 145115847 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chrX 144845540 144845640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 144859799 144862827 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 144949666 144971927 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 144957189 144995582 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 144971927 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 144995582 146151645 LOH Normal High-resolution SNP genotyping 21211785 chrX 144998475 144998539 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145039115 145039215 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145061131 145061231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145106890 145106990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 14513572 14513648 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145137592 145137902 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 145214521 145214635 Gain and loss Pancreatic cancer SNP array 17952125 chrX 145214547 145214636 Gain and loss Pancreatic cancer SNP array 17952125 chrX 145306028 145306098 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145406284 145406682 Gain and loss Pancreatic cancer SNP array 17952125 chrX 145434146 145434241 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145501075 145501175 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145532170 145565663 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 145544283 145544322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145570996 145571096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145595885 145595975 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145662785 145662885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 145673172 146269364 Copy number Alcoholism Illumina Human Hap705W-Quad BeadChip 21790672 chrX 145687163 146428888 LOH Normal High-resolution SNP genotyping 21211785 chrX 145720880 149493116 Loss Developmental delay affymetrix genechip 500K/SNP 6.97 array 21147756 chrX 145748901 145753500 Deletion Glioma mate-paired sequence 20126413 chrX 145750852 145751641 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 145753240 145784271 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 145831590 145863953 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 145838672 145878177 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 145845902 145849421 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 145854586 145907010 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 145857027 145911279 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 145857972 145917838 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 145859083 145924659 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 145860077 145927567 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 145863953 145928727 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 145863953 145928727 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 145863953 150432243 LOH Normal High-resolution SNP genotyping 21211785 chrX 145863953 151019357 LOH Normal High-resolution SNP genotyping 21211785 chrX 145863953 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 145878177 154608206 LOH Normal High-resolution SNP genotyping 21211785 chrX 145883021 146963649 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 148673448 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 150041521 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 150432243 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 153052356 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 154608206 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 145907010 154616855 LOH Normal High-resolution SNP genotyping 21211785 chrX 145911279 151571286 LOH Normal High-resolution SNP genotyping 21211785 chrX 145911279 151573312 LOH Normal High-resolution SNP genotyping 21211785 chrX 145911279 151979225 LOH Normal High-resolution SNP genotyping 21211785 chrX 145911279 153066394 LOH Normal High-resolution SNP genotyping 21211785 chrX 145911279 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 145911279 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 145911279 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 145917838 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 145924659 150432243 LOH Normal High-resolution SNP genotyping 21211785 chrX 145924659 151573312 LOH Normal High-resolution SNP genotyping 21211785 chrX 145924659 151577384 LOH Normal High-resolution SNP genotyping 21211785 chrX 145924659 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 145924659 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 145924659 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 145924659 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 145924659 154616855 LOH Normal High-resolution SNP genotyping 21211785 chrX 145927567 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 145927567 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 145927567 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 145927567 154616855 LOH Normal High-resolution SNP genotyping 21211785 chrX 145928727 150406560 LOH Normal High-resolution SNP genotyping 21211785 chrX 145928727 150962588 LOH Normal High-resolution SNP genotyping 21211785 chrX 145928727 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 145928727 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 145928727 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 145960302 146963649 LOH Normal High-resolution SNP genotyping 21211785 chrX 145976746 145976874 Gain and loss Pancreatic cancer SNP array 17952125 chrX 145986086 145986214 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146000527 146000655 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1460101 1464033 Copy number Autism exome sequencing 22495311 chrX 146012890 146013016 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146017784 146017907 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146018048 146018141 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146023977 146024091 Gain and loss Pancreatic cancer SNP array 17952125 chrX 14603137 14746120 Loss Autism qPCR 20531469 chrX 146045821 146045914 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146046708 146046800 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146047596 146047689 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146049919 146072429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 146059090 146072807 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 146059399 146059472 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146069584 146089646 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 146069914 146075847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 146130204 146171884 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 14614099 14646235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 146143178 146189457 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 146143989 146200215 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 146151645 146215393 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 146159169 146223788 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 146168071 150409541 LOH Normal High-resolution SNP genotyping 21211785 chrX 146171884 150432243 LOH Normal High-resolution SNP genotyping 21211785 chrX 146180332 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 146189457 154548589 LOH Normal High-resolution SNP genotyping 21211785 chrX 146189457 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 146189457 154711385 LOH Normal High-resolution SNP genotyping 21211785 chrX 146200215 153066394 LOH Normal High-resolution SNP genotyping 21211785 chrX 146200215 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 14621186 14650848 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146215393 150432243 LOH Normal High-resolution SNP genotyping 21211785 chrX 146216607 146216707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 146223788 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 146278310 146313020 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 146343301 146376870 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 146366932 146367037 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 146369581 146369681 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 146376870 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 146414028 146414128 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 146437800 147110597 Duplication Intellectual disability Array CGH 22102821 chrX 146496532 148168087 LOH Normal High-resolution SNP genotyping 21211785 chrX 146502207 147363020 LOH Normal High-resolution SNP genotyping 21211785 chrX 1465044 1470998 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 14651220 14699113 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146542747 146578006 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 146588677 146588777 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 146614343 146614448 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146614347 146614448 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146651366 146656836 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 146654803 146670976 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 146654845 146669048 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 146654885 146668859 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 146654885 146669048 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 146657188 146657503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 146699102 146738157 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146704322 146749203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 146768395 146813728 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146795165 146795280 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146795166 146795281 Gain and loss Pancreatic cancer SNP array 17952125 chrX 146851049 146851263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 146891129 146891229 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 146900000 154913754 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 146900000 154913754 Copy number Aqueductal stenosis Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 146900000 154913754 Copy number Hirschsprung's Disease aCGH, TaqMan Copy Number Assay 21712996 chrX 146900000 154913754 Copy number Hoyeraal-Hreidarsson syndrome array-CGH 21569638 chrX 146900000 154913754 Copy number incontinentia pigmenti anhidrotic ectodermal dysplasia with immunodeficiency - 18350553 chrX 146900000 154913754 Copy number Normal - 21701786 chrX 146900000 154913754 Copy number Oto-palato-digital type II array-CGH 21569638 chrX 146900000 154913754 Copy number periventricular nodular heterotopia Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 146900000 154913754 Copy number Rett syndrome array-CGH 21569638 chrX 146900000 154913754 Copy number X-linked hydrocephalus array-CGH 21569638 chrX 146900000 154913754 Deletion abortions and stillbirths array CGH 19751515 chrX 146900000 154913754 Deletion Autism ref 20970697 chrX 146900000 154913754 Deletion Epilepsy ref 20970697 chrX 146900000 154913754 Deletion Hemophilia A Southern Blot and long-range PCR 17823971 chrX 146900000 154913754 Deletion Rett syndrome from references 18923514 chrX 146900000 154913754 Deletion Rett syndrome high-density microarrays 22241247 chrX 146900000 154913754 Duplication Hypotonia MLPA 17088400 chrX 146900000 154913754 Duplication Intellectual disability CMV V7 OLIGO 21984752 chrX 146900000 154913754 Duplication Mental retardation array CGH 21119712 chrX 146900000 154913754 Duplication Mental retardation MLPA 17088400 chrX 146900000 154913754 Duplication Mental retardation References 19951919 chrX 146900000 154913754 Duplication Neurodevelopmental disorder array CGH 19324899 chrX 146900000 154913754 Duplication Recurrent Infections MLPA 17088400 chrX 146900000 154913754 Duplication Rett syndrome array CGH 21383316 chrX 146900000 154913754 Duplication Rett syndrome MLPA 22283845 chrX 146900000 154913754 Gain Breast cancer - 16397240 chrX 146900000 154913754 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chrX 146900000 154913754 Gain Cryptorchidism oligo V6.3 21048976 chrX 146900000 154913754 Gain Disorders of sex development - 21048976 chrX 146900000 154913754 Gain Disorders of sex development oligo V6.3 21048976 chrX 146900000 154913754 Insert Congenital Hypertrichosis Syndrome Fluorescence in situ hybridization (FISH) 21636067 chrX 146900000 154913754 Inversion Hemophilia A References 18787571 chrX 146900000 154913754 Inversion Hunters syndrom References 18787571 chrX 146900000 154913754 Loss Prader-willi syndrome SignatureChip OS2.0 manufactured for Signature Genomic Laboratories 20588305 chrX 146900000 154913754 Microduplication Mental retardation Human Genome CGH Microarray 44k 19057379 chrX 146900000 154913754 Translocation T-cell prolymphocytic leukemia References 19278963 chrX 14691679 14691779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 146985075 146985944 Gain and loss Pancreatic cancer SNP array 17952125 chrX 147040299 147887231 LOH Normal High-resolution SNP genotyping 21211785 chrX 14707685 14709329 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 147160150 147160250 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 147183825 147183925 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 147190279 147190379 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 147214675 147214775 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 147251756 147252494 Gain and loss Pancreatic cancer SNP array 17952125 chrX 147287685 147787753 Gain and loss Pancreatic cancer SNP array 17952125 chrX 147297528 147329420 Copy number Alcoholism Illumina Human Hap683W-Quad BeadChip 21790672 chrX 147317389 147318925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 147344885 149101109 LOH Normal High-resolution SNP genotyping 21211785 chrX 147425423 147455848 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 147438227 147438291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 147462937 147463037 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 147497 147620 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 147603214 149111560 LOH Normal High-resolution SNP genotyping 21211785 chrX 147609234 147609518 Gain and loss Pancreatic cancer SNP array 17952125 chrX 147640000 152840000 Loss Breast cancer aCGH 21509527 chrX 14769425 14809420 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 14771450 14801105 Copy number Autism exome sequencing 22495311 chrX 147731453 147781229 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 147733674 147771611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 147750796 147778795 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 147861049 147861786 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1478931 1478999 Copy number Autism exome sequencing 22495311 chrX 147900373 147900773 Gain and loss Pancreatic cancer SNP array 17952125 chrX 147905980 147930138 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 147949851 147981302 Gain and loss Pancreatic cancer SNP array 17952125 chrX 147966159 147969983 Gain and loss Pancreatic cancer SNP array 17952125 chrX 147998124 147998224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 148003579 148004132 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148005284 148035915 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 148017260 148017360 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 14802229 14849634 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 14802229 14855157 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 148048747 148048847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 14809420 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 14809420 18098878 LOH Normal High-resolution SNP genotyping 21211785 chrX 14809420 39611790 LOH Normal High-resolution SNP genotyping 21211785 chrX 1481001 1488000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148147654 148753845 Gain Mental retardation Affymetrix GeneChip Human Mapping 262K NspI 20486941 chrX 148205443 148221398 Loss Normal 244K array 17666407 chrX 148219044 148219144 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 148258858 148258958 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 148264112 148421104 Deletion Mental retardation - 20877625 chrX 148264917 148266303 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 148266062 148292552 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148274648 148276394 Loss Normal 244K array 17666407 chrX 148278448 152424933 Loss or gain Normal 244K array 17666407 chrX 148312274 148313198 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148327947 148334613 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148368968 148374758 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148377251 148426750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148379834 148561435 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148383870 148419229 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148386507 148386607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 148415888 148500105 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 148418114 148494690 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 148422218 148687904 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 148426751 148436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148436501 148536500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148454298 148454436 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 148473333 148550133 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148481974 148663581 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148493841 148543935 Loss Autism qPCR, Illumina1M 20531469 chrX 148494690 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 14849634 14910182 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 14849634 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 14849634 18098878 LOH Normal High-resolution SNP genotyping 21211785 chrX 14849634 18105660 LOH Normal High-resolution SNP genotyping 21211785 chrX 148536501 148542500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148542501 148576500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 14855157 49023506 LOH Normal High-resolution SNP genotyping 21211785 chrX 14855157 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 148561986 148564179 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148569256 148575051 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148575477 148604507 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148575691 148687904 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 148576501 148581000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148581001 148647000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148586400 148586500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 148591696 148591796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 148598983 154887040 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 chrX 148598983 154887040 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148615773 148665346 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chrX 148647001 148653000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148653001 148657750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148657751 148676500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148658294 148662686 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148663576 148666336 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148668507 148673120 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148671402 148677206 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148676501 148694500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 14868203 14894769 Copy number Autism exome sequencing 22495311 chrX 148683404 148789418 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 148687022 148729051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 148692066 148789406 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 148694501 148698500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148697998 148698275 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148698501 148770500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148711185 148711275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 148767162 148767229 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 148770501 148774500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148770654 148775266 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148770983 148777271 Gain and loss Pancreatic cancer SNP array 17952125 chrX 148774501 148851000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148774942 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 148774942 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 1488001 1597000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148836173 148866679 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chrX 148845967 148847100 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148847832 148850682 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148851001 148860250 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148851073 148857374 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148860251 148866500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148864251 148865366 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 148866501 149064500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 148896100 153772100 Gain Prostate cancer Array CGH 18632612 chrX 148901186 148920341 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 148954106 148955325 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149006866 149006966 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 149033269 149035710 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 149064501 149280000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149069865 149071583 Gain and loss Pancreatic cancer SNP array 17952125 chrX 14910182 16140714 LOH Normal High-resolution SNP genotyping 21211785 chrX 149149697 149151799 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 149159561 149159661 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 14917237 14917432 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 149185713 149289366 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 149200800 149200900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 149280001 149285000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149284288 149353007 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149285001 149379000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149301795 149302130 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 149336835 149336869 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chrX 149364378 149433104 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 149379001 149390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 14939011 14939085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 149390501 149425500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149407637 149512182 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149425501 149436500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149436501 149488500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149446405 150034538 LOH Normal High-resolution SNP genotyping 21211785 chrX 149481696 149516039 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 149487727 149592272 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 149488501 149675500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149511547 149548642 Deletion Breast cancer Illumina 1M duo array 20393555 chrX 149532413 149604136 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149605378 149737747 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149612044 149641338 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 149612527 149684233 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 149632652 149669668 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 149638916 149638984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 149643662 149643762 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 149650315 149650389 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149660273 149660722 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 149675501 149685000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149680371 149691370 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 149685001 149692000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149685467 149817837 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 149688806 149688918 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 149691370 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 149692001 149817000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149741162 149741242 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149794535 149794628 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149817001 149819000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149819001 149860000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149822337 149827902 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149860001 149903000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149865357 149865444 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149902421 149909906 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 149903001 150030500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 149912632 149913222 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 1499188 1545408 Gain and loss Pancreatic cancer SNP array 17952125 chrX 149935294 149935359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 149939684 149939753 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 149996269 150040913 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 150011083 150046607 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 150015642 150024570 Copy number Alcoholism Illumina Human Hap692W-Quad BeadChip 21790672 chrX 150015693 150020505 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150018822 150021446 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 150023555 150068046 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 150030501 150037000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150037001 150093500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150041521 150072923 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 150044598 150046373 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 150045626 150047529 Copy number Alcoholism Illumina Human Hap701W-Quad BeadChip 21790672 chrX 150046607 153054237 LOH Normal High-resolution SNP genotyping 21211785 chrX 150065858 150066758 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150068046 154487456 LOH Normal High-resolution SNP genotyping 21211785 chrX 150072923 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 150072923 151965063 LOH Normal High-resolution SNP genotyping 21211785 chrX 150093501 150100500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150094373 150099736 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 150100501 150457500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150105429 150151231 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 150124032 150124132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 150158291 150158391 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 150170664 150171033 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 150200215 150200315 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 15021768 15047840 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150235976 150248403 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150283135 150874628 LOH Normal High-resolution SNP genotyping 21211785 chrX 150352523 150387234 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 150402662 150515777 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150406560 150460638 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 150409541 150470365 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 150432243 150477690 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 150432243 150479338 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 150457501 150483500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150460638 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 150470365 153059788 LOH Normal High-resolution SNP genotyping 21211785 chrX 150470365 154343464 LOH Normal High-resolution SNP genotyping 21211785 chrX 150470365 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 150470365 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 150477690 151573312 LOH Normal High-resolution SNP genotyping 21211785 chrX 150477690 151599726 LOH Normal High-resolution SNP genotyping 21211785 chrX 150477690 152823680 LOH Normal High-resolution SNP genotyping 21211785 chrX 150479338 154571925 LOH Normal High-resolution SNP genotyping 21211785 chrX 150479338 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 150479338 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 150479338 154608206 LOH Normal High-resolution SNP genotyping 21211785 chrX 150479338 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 150483501 150594000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150510705 150510805 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 150512788 150545017 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 150537347 150540581 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150555076 150562234 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150573786 150584604 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150594001 150640000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 15061284 15093384 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1506237 1580031 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1506237 1580031 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 150627556 150629154 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 150637293 150637388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 150640001 150647500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150647501 150655000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150655001 150662000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150662001 150831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150726554 150772774 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 150753234 150764208 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150772774 153056637 LOH Normal High-resolution SNP genotyping 21211785 chrX 150792165 150813719 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150797618 150797698 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150798668 150798752 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150831001 150843000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150843001 151034000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 150908649 150908749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 150926823 151987316 LOH Normal High-resolution SNP genotyping 21211785 chrX 150953093 150957012 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150962588 151013737 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 15097237 15113302 Gain and loss Pancreatic cancer SNP array 17952125 chrX 150973478 150977593 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151007100 151290398 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151013737 152823680 LOH Normal High-resolution SNP genotyping 21211785 chrX 151019357 151050127 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 151021657 151021752 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 151034001 151040000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151040001 151054500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151044675 151044770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 151050127 154444277 LOH Normal High-resolution SNP genotyping 21211785 chrX 151054501 151058500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151058501 151556500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151081086 151871524 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chrX 151116886 151772720 LOH Normal High-resolution SNP genotyping 21211785 chrX 15116859 15161740 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 151231259 151231339 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151233452 151233532 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15123376 15162234 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151243115 151275206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 151325340 151325440 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 151473459 151473529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 151476952 151573740 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151477205 151492393 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151537798 151557663 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151547621 151567543 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151556501 151558000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151558001 151650500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151573796 151580085 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151577384 151649508 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 151588956 151592932 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151598212 151598312 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 151598455 151598996 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151599726 151652608 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 151599726 151688091 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 151605221 151608808 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151616816 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151616816 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 15162583 15271113 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151633205 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151633205 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 151633205 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151633205 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 151633205 154913754 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151633205 154913754 LOH Normal High-resolution SNP genotyping 21211785 chrX 151646489 151659471 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 151649508 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151649508 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 151650501 151654500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151652608 152819197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151652608 152819197 LOH Normal High-resolution SNP genotyping 21211785 chrX 151652608 153052356 LOH Normal High-resolution SNP genotyping 21211785 chrX 151652608 153058122 LOH Normal High-resolution SNP genotyping 21211785 chrX 151652608 154000432 LOH Normal High-resolution SNP genotyping 21211785 chrX 151652608 154343464 LOH Normal High-resolution SNP genotyping 21211785 chrX 151652608 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151652608 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 151652608 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151652608 154616855 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151654501 151812000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151659471 153056637 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151659471 153056637 LOH Normal High-resolution SNP genotyping 21211785 chrX 151666427 151669867 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151670189 151708840 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151680531 151707801 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 151688091 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151688091 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 151688091 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151688091 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 151732965 151733023 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 151733422 151733495 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 15175067 15188563 Copy number Autism exome sequencing 22495311 chrX 151757241 151812589 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151763572 151763672 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 151769284 153707868 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 151776295 152996899 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 151812001 151857500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151813051 151813151 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 151827939 151831326 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151857501 151904500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151876742 151928738 Copy number Chronic lymphocytic leukemia References 18645599 chrX 151881624 151947652 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 151883118 151922364 Copy number Chronic lymphocytic leukemia References 18645599 chrX 151897625 151899390 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151904501 151913500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151904669 153383945 Loss or gain Normal 244K array 17666407 chrX 151911434 151913970 Gain and loss Pancreatic cancer SNP array 17952125 chrX 151913501 151946500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151946501 151952500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151952501 151974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151965063 151980224 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 151965723 151970284 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15197039 15197103 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 151974501 151980000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151975039 152050555 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 151979225 152151400 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 151980001 151984500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151980224 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 151980224 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 151984501 151999000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151993735 154663788 LOH Normal High-resolution SNP genotyping 21211785 chrX 151999001 152136000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 151999550 151999615 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152021364 152027363 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152050555 154415408 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 152050555 154415408 LOH Normal High-resolution SNP genotyping 21211785 chrX 152052820 152052873 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152059565 152059665 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 1520646 1521540 Copy number Autism exome sequencing 22495311 chrX 152094416 152098267 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152101221 152101321 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152107343 152107426 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 15211499 15247669 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 152133247 152133327 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152136001 152140500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152140501 152229500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152151400 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 152204978 152207804 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15222080 15222180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152229501 152240500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152231025 152256892 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152240501 152262500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152241308 154405159 Duplication Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 chrX 152252806 152270239 Amplification Lung adenocarcinoma SNP 6.0 arrays 21935476 chrX 152262501 152275000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152275001 152294000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152281258 152295851 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152286440 152286876 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 152294001 152361000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152301125 152482887 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152322427 152369234 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152361001 152369500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152369501 152373000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152373001 152377000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152374232 152385428 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152377001 152381000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152381001 152492500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152390980 152391692 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152392819 152393190 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152399924 152399975 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1524058 1531682 Copy number Autism exome sequencing 22495311 chrX 15242026 15334311 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152428835 152437618 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15243517 15263410 Copy number Autism exome sequencing 22495311 chrX 152452535 152452818 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152456037 152460248 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152460702 152460772 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 15247037 15271144 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 15247669 16169672 LOH Normal High-resolution SNP genotyping 21211785 chrX 15247669 16180181 LOH Normal High-resolution SNP genotyping 21211785 chrX 15247669 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 15247669 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 15247669 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 15247669 25606107 LOH Normal High-resolution SNP genotyping 21211785 chrX 152486799 152510734 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152492501 152506000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152497148 154653654 LOH Normal High-resolution SNP genotyping 21211785 chrX 15250001 20750002 Loss Ovarian cancer QPCR 19835627 chrX 152506001 152515000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152511170 152531063 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152515001 152542000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152542001 152548000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152548001 152551000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152550558 152565642 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152551001 152571000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152567365 152572031 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152571001 152584500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152572069 152580814 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152579818 152584800 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152584501 152594500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152585432 152585497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152586440 154673003 LOH Normal High-resolution SNP genotyping 21211785 chrX 152588417 152592974 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152588470 152616869 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152594501 152602000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152602001 152629000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152604100 152649380 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 152606586 152615234 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152610000 152890000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 152615387 152615458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152618035 152618135 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152619145 152643081 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 152619146 152643081 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152627541 152627861 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152629001 152641500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152641501 152648500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152643530 152663375 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152648234 152662158 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152648501 152654500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152648753 152648837 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152652106 152652206 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152654501 152663500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152658583 152658673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152663501 152680500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152666974 152675272 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152680501 152727500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152681862 152681957 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 152682905 152697989 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152688832 152693487 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152693680 152712561 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152699704 152704381 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152704414 152713161 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chrX 152704415 152713161 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152706951 153344658 LOH Normal High-resolution SNP genotyping 21211785 chrX 15271144 16169672 LOH Normal High-resolution SNP genotyping 21211785 chrX 15271144 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 15271144 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 152713288 152717148 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152714372 153340035 LOH Normal High-resolution SNP genotyping 21211785 chrX 152715644 153116375 Gain Non-syndromic sensorineural hearing loss array CGH 18496225 chrX 152716224 152721315 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152720817 152749197 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152721570 152731079 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152727501 152752500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152729030 154913754 Amplification Cancer Affymetrix 250K Sty array 20164920 chrX 152733861 152757287 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152748963 154492953 Loss or gain Normal 244K array 17666407 chrX 152752501 152779500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152759090 152769491 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152759900 152760217 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152763867 153145911 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chrX 152778588 154651314 LOH Normal High-resolution SNP genotyping 21211785 chrX 152779501 152793500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152780580 152804778 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 152780581 152794505 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152793501 152797000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152796807 152806189 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152797001 152806000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152799321 152807638 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152806001 152820500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152808111 152878612 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1528081 1529493 Copy number Autism exome sequencing 22495311 chrX 152819197 152833729 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 152820501 152830000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 15282322 152825814 Copy number Autism exome sequencing 22495311 chrX 152823564 152825834 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152823680 152849183 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 152826025 152844892 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152830001 152860000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152833729 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 152833729 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 152847991 153262357 Microduplication Mental retardation oligonucleotide agilent array 244K 22129561 chrX 152848571 152853662 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152849183 154608206 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 152849183 154608206 LOH Normal High-resolution SNP genotyping 21211785 chrX 152849183 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 152853917 152863426 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152860001 152893500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152866202 152890013 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152889743 152922546 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 152891185 152901840 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152893501 152929500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152912113 153007047 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 152916847 152917055 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 152929150 152938536 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chrX 152929150 152938536 Copy number Lung cancer - 20668451 chrX 152929150 152938536 Gain or loss Breast cancer - 20668451 chrX 152929150 152938536 Gain or loss Cancer - 20668451 chrX 152929150 152938536 Gain or loss Lung cancer - 20668451 chrX 152929150 152938536 Gain or loss Ovarian cancer - 20668451 chrX 152929150 152938536 Gain or loss Pancreas cancer - 20668451 chrX 152929150 152938536 Gain or loss Prostate cancer - 20668451 chrX 152929151 152938536 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152929501 152941500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152930605 152945248 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152940380 152996514 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 152940457 153016382 Duplication Intellectual disability - 17172942 chrX 152940458 153016323 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 152941501 153059500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 152945679 152966393 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152949386 152951490 Deletion Rett syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 152966532 153073782 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 152969014 152982378 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152980365 153057448 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 152982809 153003514 Gain and loss Pancreatic cancer SNP array 17952125 chrX 152983113 153209737 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 152992306 152992363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 153002984 153079398 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 153005417 154634430 LOH Normal High-resolution SNP genotyping 21211785 chrX 153005417 154663788 LOH Normal High-resolution SNP genotyping 21211785 chrX 153006132 153019496 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153013619 153016356 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153019927 153050847 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153037664 154663788 LOH Normal High-resolution SNP genotyping 21211785 chrX 153044998 153079546 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153052356 153171016 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 153056637 153187195 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 153058122 153191742 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 153059501 153178000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153059788 153196794 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 153062939 153077701 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153066394 153199583 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 153066394 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 153075038 153075046 Deletion Medulloblastoma Illumina SNP arrays 21163964 chrX 153077878 153098828 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153097744 153123776 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153101361 153114725 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153114908 153136049 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153116320 154405100 Increase Cancer CGH 20581869 chrX 153128570 153130728 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153138461 153151953 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153147565 153151527 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153149469 153149603 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153150948 153161235 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153152126 153176632 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153160724 153170912 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153171016 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 153177345 153211894 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153177384 153177642 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153177886 153183640 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153178001 153214000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153184081 154400281 LOH Normal High-resolution SNP genotyping 21211785 chrX 153184081 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 153184081 154657126 LOH Normal High-resolution SNP genotyping 21211785 chrX 153187195 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 153187195 154616855 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 153187195 154616855 LOH Normal High-resolution SNP genotyping 21211785 chrX 153191742 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 153191742 154583011 LOH Normal High-resolution SNP genotyping 21211785 chrX 153191742 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 153191742 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 153191742 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 153196794 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 153196794 154616855 LOH Normal High-resolution SNP genotyping 21211785 chrX 153199583 154343464 LOH Normal High-resolution SNP genotyping 21211785 chrX 153199583 154438707 LOH Normal High-resolution SNP genotyping 21211785 chrX 153199583 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 153199583 154597510 LOH Normal High-resolution SNP genotyping 21211785 chrX 153199583 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 153199583 154614766 LOH Normal High-resolution SNP genotyping 21211785 chrX 153214001 153280500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153220000 153400000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 153230091 153252845 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153230094 153256200 Copy number Autism exome sequencing 22495311 chrX 153233154 153233254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 153236206 153242700 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153248612 153264501 Gain Autism qPCR 20531469 chrX 153250325 153264971 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153254916 153255347 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153260981 153263075 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153269819 153271300 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153275762 153278646 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153279352 153282699 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153279912 153283874 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153280501 153313000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153281816 153281950 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153282773 153293621 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153287263 153363188 Duplication Autism ref 20970697 chrX 153287263 153363188 Duplication Epilepsy ref 20970697 chrX 153293071 153303259 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153298208 153308228 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15330661 15330761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 153310171 153318056 Copy number Congenital anomalies of the kidney and urinary tract Affymetrix GeneChip HG U133 PLUS 2.0, Real-time PCR 18694510 chrX 153310171 153318056 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 153310172 153318056 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153313001 153333000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 15331853 153325009 Copy number Autism exome sequencing 22495311 chrX 153318715 153325008 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153323310 153339173 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153325701 153332195 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 153325702 153332190 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153331943 154776330 LOH Normal High-resolution SNP genotyping 21211785 chrX 153333001 153339000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153334163 153356964 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153339001 153355500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153339816 153355179 Deletion Mental retardation PCR 20877625 chrX 153339817 153355179 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153355501 153363500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153358435 153360790 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153363183 153363890 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153363501 153372000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153364696 154651314 LOH Normal High-resolution SNP genotyping 21211785 chrX 153365250 153368126 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153366503 154651314 LOH Normal High-resolution SNP genotyping 21211785 chrX 153368842 153372189 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153372001 153387500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153372796 153373959 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153377122 153378779 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153387501 153390500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153387700 153397567 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 15338813 15378794 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153390501 153411000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153403735 153404248 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153409569 153411226 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153411001 153417500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153412800 153428981 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153414389 153415552 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153417501 153485500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 15342353 153446455 Copy number Autism exome sequencing 22495311 chrX 153423653 153446455 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153424578 153424946 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153443950 153445557 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153449493 153463455 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153452673 153453385 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 15345428 15345493 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 153462002 153463637 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153466610 153468269 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153467239 153543036 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153485501 153544500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153499059 153500714 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153510502 153534430 Loss Autism 1M Ailent CGH whole-genome array 21865298 chrX 153513930 153514642 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153520760 153529845 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153533445 153535036 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153540101 153541229 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153544501 154444000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 153554743 153569660 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153556720 153632542 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153560507 153560638 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153566977 153567105 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153570672 153597467 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153593456 154651314 LOH Normal High-resolution SNP genotyping 21211785 chrX 153627773 153814702 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15363573 15363673 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 153644225 153659157 Copy number Autism exome sequencing 22495311 chrX 153644344 153659154 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153649997 153650128 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153656467 153656595 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153660162 153686957 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153677021 153677535 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153678354 153679451 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153697668 153699090 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153700904 153711088 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153703648 153860284 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 chrX 153703648 153860284 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153704817 153717173 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153712977 153713251 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 153717257 153904192 Copy number Heart failure - 16880705 chrX 153717257 153904192 Loss Haemophilia References 22138850 chrX 153717260 153904192 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153755068 154038338 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 chrX 153755068 154038338 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153757815 153803560 Deletion Incontinentia Pigmenti qRT-PCR 22121116 chrX 153757815 153821090 Deletion Incontinentia Pigmenti qRT-PCR 22121116 chrX 153763394 153828643 Deletion Incontinentia Pigmenti qRT-PCR 22121116 chrX 153763394 153878592 Deletion Incontinentia Pigmenti qRT-PCR 22121116 chrX 153766511 153767027 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153767829 153769530 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153769487 153796055 Deletion Incontinentia Pigmenti qRT-PCR 22121116 chrX 153774414 153776269 Deletion Incontinentia Pigmenti qRT-PCR 22121116 chrX 153774414 153796632 Deletion Incontinentia Pigmenti qRT-PCR 22121116 chrX 153790293 153800681 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153818811 153847550 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153846405 154689292 Copy number Alcoholism Illumina Human Hap694W-Quad BeadChip 21790672 chrX 153853606 153863243 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153860296 153921912 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 153863507 153912129 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153891415 153942523 Loss Hereditary coagulopathy Affymetrix Genome-Wide Human SNP Array 6.0 21993689 chrX 153891415 153942523 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153904517 153904617 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 153908258 153938385 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153931200 153935967 Gain and loss Pancreatic cancer SNP array 17952125 chrX 153938482 153938590 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 153938493 153938921 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 153943080 153952830 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153943093 153952830 Gain or loss Breast cancer - 20668451 chrX 153943093 153952830 Gain or loss Cancer - 20668451 chrX 153943093 153952830 Gain or loss Lung cancer - 20668451 chrX 153943093 153952830 Gain or loss Ovarian cancer - 20668451 chrX 153943093 153952830 Gain or loss Pancreas cancer - 20668451 chrX 153943093 153952830 Gain or loss Prostate cancer - 20668451 chrX 153952903 154004543 Gain or loss Breast cancer - 20668451 chrX 153952903 154004543 Gain or loss Cancer - 20668451 chrX 153952903 154004543 Gain or loss Lung cancer - 20668451 chrX 153952903 154004543 Gain or loss Ovarian cancer - 20668451 chrX 153952903 154004543 Gain or loss Pancreas cancer - 20668451 chrX 153952903 154004543 Gain or loss Prostate cancer - 20668451 chrX 153952904 154004543 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 153953046 154098786 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chrX 154008254 154031800 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154044877 154079019 Deletion Oligozoospermia Array-CGH 20877625 chrX 15405108 15442811 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154051231 154057441 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154055670 154055770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 154070160 154127661 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154082529 154592245 LOH Normal High-resolution SNP genotyping 21211785 chrX 154097744 154121292 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154139110 154140123 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 154139110 154140124 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 154140720 154147046 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154146899 154146991 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 154148121 154164810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 154157518 154157618 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 154158694 154217180 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154167511 154167924 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154174132 154174646 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154174358 154176025 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154175468 154176565 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154231158 154233743 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154250868 154251965 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154252945 154253292 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154259508 154259921 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154263630 154263977 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154264958 154266073 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154283477 154406301 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154294255 154294347 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 154336839 154387405 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chrX 154339207 154372781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 154340340 154341455 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154342274 154342790 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154343670 154343754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 154343718 154385076 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 154343851 154374613 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 154346138 154372040 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 154353285 154376078 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 154369522 154404106 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 154372967 154495791 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154400281 154460123 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 154400281 154460123 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 1544020 1544746 Copy number Autism exome sequencing 22495311 chrX 154408541 154491939 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 154415408 154472391 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 154415408 154472391 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 154416915 154491951 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 154423934 154437768 Loss Autism 1M Ailent CGH whole-genome array 21865298 chrX 154438707 154597510 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154443355 154443623 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 154444001 154451750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 154444277 154592245 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154451751 154591000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 154472391 154608206 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 154487456 154913754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154508427 154508527 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 154554409 154554465 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 154569169 154582000 Loss Autism qPCR 20531469 chrX 154569169 154582606 Loss Autism qPCR 20531469 chrX 154584956 154913754 Copy number Lung cancer paired-end sequencing 18438408 chrX 154589871 154913754 Substitutions and indels small cell lung cancer array-CGH 20016488 chrX 154591001 154831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 154592245 154913754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154592245 154913754 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 154597510 154913754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154597510 154913754 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 154614766 154913754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154617237 154643821 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 154617237 154648508 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 154650645 154665311 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154673003 154724622 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154710950 154712518 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154711385 154737004 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154724622 154776330 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 154743237 154745410 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 154764207 154826614 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154784400 154784494 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 154790041 154790187 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 15480674 15480972 Gain and loss Pancreatic cancer SNP array 17952125 chrX 154827547 154913754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 154831001 154855000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 154855001 154860000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 154860001 154879500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 154868104 154869205 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154879501 154912500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 154880440 154893676 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 154883804 154913754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1548872 1554821 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15493988 15494126 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15493989 15494126 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15516082 15562315 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1553 223863 Copy number Alcoholism Illumina Human Hap688W-Quad BeadChip 21790672 chrX 15568276 15601022 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15601359 15633929 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 15603586 15632757 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15619318 15633929 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 1564816 1576662 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1565859 1615649 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15682525 28207699 Gain Mental retardation affymetrix genome-wide human SNP array 6.0 20486941 chrX 15693968 15694083 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15693969 15694080 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15710000 18450000 Deletion Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 15753850 15783021 Copy number Autism exome sequencing 22495311 chrX 15754576 15754676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 15768694 15768794 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 15797166 15797266 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 15822933 15822988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 15901336 15930598 Gain and loss Pancreatic cancer SNP array 17952125 chrX 15948163 15949155 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1 59500000 Copy number Cancer ICA method 16751803 chrX 1 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 1 59500000 Deletion Cancer multiplex PCR(NR27,NR21, NR24, BAT25 and BAT26),ABI Prism 3100,GeneScan Analysis version 3.7 21637783 chrX 1 59500000 Gain Glioblastoma multiforme aCGH 21080181 chrX 1 59500000 Gain Glioblastoma multiforme CGH 19960244 chrX 1 59500000 Gain or loss Endometrial cancer CGH 22040021 chrX 1 59500000 Loss Breast cancer aCGH 21264507 chrX 1 59500000 Loss Esophageal squamous carcinoma CGH 21637470 chrX 1 596831 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1597001 1610000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 15976208 15977071 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1 6000000 Microdeletion short stature aCGH 22470819 chrX 16041547 16041616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 16051344 16081562 Gain or loss Breast cancer - 20668451 chrX 16051344 16081562 Gain or loss Cancer - 20668451 chrX 16051344 16081562 Gain or loss Lung cancer - 20668451 chrX 16051344 16081562 Gain or loss Ovarian cancer - 20668451 chrX 16051344 16081562 Gain or loss Pancreas cancer - 20668451 chrX 16051344 16081562 Gain or loss Prostate cancer - 20668451 chrX 16053434 16053524 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 16089776 16158669 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 16095501 16099500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 16099501 17303000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 1610001 1653500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 16140714 16247444 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 16161031 16247444 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 16169672 16255248 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 16180181 16278359 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 16232062 16238084 Loss Normal 244K array 17666407 chrX 16247444 18098878 LOH Normal High-resolution SNP genotyping 21211785 chrX 16247444 57719679 LOH Normal High-resolution SNP genotyping 21211785 chrX 16252122 16253093 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1625295 1699827 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16255248 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 16255248 20051946 LOH Normal High-resolution SNP genotyping 21211785 chrX 16255248 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 16255248 22307284 LOH Normal High-resolution SNP genotyping 21211785 chrX 16255248 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 16278359 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 16316917 16317210 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16321180 16365990 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 16337601 16338133 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 16367330 16490716 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16386952 16418649 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 16427938 16432448 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16428370 16459339 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 16442037 16442137 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 16447800 16516898 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 16451826 16451943 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 16462916 16463798 Gain Normal 244K array 17666407 chrX 16465970 16466026 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 16466767 16466870 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 16467169 16468465 Loss Normal 244K array 17666407 chrX 16497412 16538990 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16500095 16551253 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 16509490 16588764 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 16510514 21276145 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 16516898 20054617 LOH Normal High-resolution SNP genotyping 21211785 chrX 1653501 1661500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 16538897 16560400 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 16541880 17316803 LOH Normal High-resolution SNP genotyping 21211785 chrX 16545623 16545685 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16551253 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 16551253 20039129 LOH Normal High-resolution SNP genotyping 21211785 chrX 16551253 20051946 LOH Normal High-resolution SNP genotyping 21211785 chrX 16551253 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 16551253 20054617 LOH Normal High-resolution SNP genotyping 21211785 chrX 16551253 22314370 LOH Normal High-resolution SNP genotyping 21211785 chrX 16551253 22777997 LOH Normal High-resolution SNP genotyping 21211785 chrX 16551253 32206651 LOH Normal High-resolution SNP genotyping 21211785 chrX 16560779 18098878 LOH Normal High-resolution SNP genotyping 21211785 chrX 16560779 20051946 LOH Normal High-resolution SNP genotyping 21211785 chrX 16560779 20054617 LOH Normal High-resolution SNP genotyping 21211785 chrX 16560779 22316306 LOH Normal High-resolution SNP genotyping 21211785 chrX 16564217 16619953 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16570480 16590132 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 16570480 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 16581134 17316803 LOH Normal High-resolution SNP genotyping 21211785 chrX 16588764 17964564 LOH Normal High-resolution SNP genotyping 21211785 chrX 16588764 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 16588764 20039129 LOH Normal High-resolution SNP genotyping 21211785 chrX 16588764 22307284 LOH Normal High-resolution SNP genotyping 21211785 chrX 16588764 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 16588764 48124935 LOH Normal High-resolution SNP genotyping 21211785 chrX 16590132 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 1661501 1752000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 16622434 16648122 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16647675 16689256 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 16652922 16653047 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16652980 16653047 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16688233 16707403 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrX 16689997 16690097 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16690000 16690097 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16710041 16710141 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 16724471 16925392 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1675344 1675625 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 16765327 16765427 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 16822160 16822288 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16822160 16822291 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1682538 1682911 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 16856995 16857078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 16877562 16878097 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1688457 1688733 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 16903350 16903571 Gain and loss Pancreatic cancer SNP array 17952125 chrX 16915249 16915337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 17079385 17111082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 17084622 17981275 LOH Normal High-resolution SNP genotyping 21211785 chrX 17100000 19200000 Copy number Abnormal corpus callosum Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 17100000 19200000 Copy number Normal - 21701786 chrX 17100000 19200000 Copy number X-linked lissencephaly Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 17100000 19200000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chrX 17100000 24900000 Copy number Normal - 21701786 chrX 17100000 29400000 Copy number Normal - 21701786 chrX 17100000 56600000 Copy number Premature ovarian failure aCGH 20952765 chrX 1711981 2304637 Copy number Alcoholism Illumina Human Hap700W-Quad BeadChip 21790672 chrX 17135714 17135812 Gain and loss Pancreatic cancer SNP array 17952125 chrX 17153538 17510241 Gain and loss Pancreatic cancer SNP array 17952125 chrX 17185472 17230281 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 172139565 172153096 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 172166975 172228833 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 17303001 17305500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 17303464 17664034 Copy number Autism exome sequencing 22495311 chrX 17305501 17583000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 17388543 17388643 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 17412675 17412743 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 17430538 17430852 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 17442463 17442545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 17466894 17563146 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 17478602 18048979 LOH Normal High-resolution SNP genotyping 21211785 chrX 17515246 17532761 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1752001 1806500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 1753128 1756177 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1754313 1765236 Gain and loss Pancreatic cancer SNP array 17952125 chrX 17547353 17548084 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 17568920 17568983 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 17577828 17639013 Gain and loss Pancreatic cancer SNP array 17952125 chrX 17583001 17586000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 17586001 18154000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 1761918 2138482 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1773305 1773489 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1777895 1805800 Gain and loss Pancreatic cancer SNP array 17952125 chrX 17816920 17817014 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 17873402 17873457 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 17942786 17998527 Gain and loss Pancreatic cancer SNP array 17952125 chrX 17964564 18113443 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 18001411 18009575 Loss Normal 244K array 17666407 chrX 18017091 18132504 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1806501 1822000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 18096690 18121536 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 18098878 18145285 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 18105660 18159201 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 18112435 18168469 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 18113443 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 18145285 20047978 LOH Normal High-resolution SNP genotyping 21211785 chrX 18145285 20362394 LOH Normal High-resolution SNP genotyping 21211785 chrX 18145285 22772481 LOH Normal High-resolution SNP genotyping 21211785 chrX 18145285 25550641 LOH Normal High-resolution SNP genotyping 21211785 chrX 18154001 18158500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 18154184 18154224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 18158501 18800000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 18159201 25610888 LOH Normal High-resolution SNP genotyping 21211785 chrX 18168469 20051946 LOH Normal High-resolution SNP genotyping 21211785 chrX 1817207 2076823 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1817207 2076823 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 1817207 2132986 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1817207 2132986 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 18173773 18173872 Gain and loss Pancreatic cancer SNP array 17952125 chrX 18196812 18196890 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 18203360 18431321 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1821672 1854740 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 1822001 2367500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 1828576 2703576 Copy number Lung cancer paired-end sequencing 18438408 chrX 18331857 18460326 Deletion West syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 18331857 18460326 Deletion X-linked lissencephaly Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 18353646 18581670 Copy number Autism exome sequencing 22495311 chrX 18400001 18434165 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1840000 2040000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 18417694 18449860 Gain and loss Pancreatic cancer SNP array 17952125 chrX 18438825 18905844 Loss Normal 244K array 17666407 chrX 18468702 18605696 Gain and loss Pancreatic cancer SNP array 17952125 chrX 1852025 1852220 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1852037 1852260 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1854740 2525574 LOH Normal High-resolution SNP genotyping 21211785 chrX 18590588 18590688 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 18628329 18663053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1865728 3187726 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 18670538 18761833 Gain and loss Pancreatic cancer SNP array 17952125 chrX 18690743 20258471 LOH Normal High-resolution SNP genotyping 21211785 chrX 1871077 1871674 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 18740183 18774235 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 18767084 18900412 Gain and loss Pancreatic cancer SNP array 17952125 chrX 18779256 18779356 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 18800001 18826500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 18820336 18912401 Copy number Gastric cancer Human cDNA microarrays 17229543 chrX 18826501 19300500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 1882918 1886706 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chrX 18904496 25231836 Loss Normal 244K array 17666407 chrX 18917345 19050598 Copy number Gastric cancer Human cDNA microarrays 17229543 chrX 19022037 20447660 LOH Normal High-resolution SNP genotyping 21211785 chrX 1907040 1907618 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chrX 19106252 20266456 LOH Normal High-resolution SNP genotyping 21211785 chrX 19121708 19137622 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19137833 19292784 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19154549 19154644 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19154549 19154648 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19200000 21800000 Copy number Normal - 21701786 chrX 19200000 29400000 Indels Infertility Agilent Human Genome CGH 244A Oligo Microarray Chip 21528002 chrX 1926665 1927723 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19271931 19289723 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 19284722 19284857 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 1928923 19271932 Copy number Autism exome sequencing 22495311 chrX 19300501 19307000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 19307001 20044000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 19313191 19665376 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19314528 19359870 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 19327210 19360862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 1 9334554 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 19349679 19349745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 19409142 19440120 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 19425768 19775308 Gain Mental retardation Affymetrix GeneChip Human Mapping 262K NspI 20486941 chrX 19471138 19861338 Gain Autism qPCR 20531469 chrX 1 9500000 Copy number turner syndrome - 20877625 chrX 1 9500000 Microdeletion Kallmann Syndrome 1 aCGH 22470819 chrX 1 9500000 Rearrangement Acute lymphoblastic leukemia FISH 20139093 chrX 1963468 1963806 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 19689016 19689116 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 19694033 19744081 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19720719 19720808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 19762835 19762934 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19784884 19894673 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19850377 19873156 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 19902295 19919616 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19913841 19913910 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19913842 19913910 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19914081 19914160 Gain and loss Pancreatic cancer SNP array 17952125 chrX 19933137 20044407 Gain and loss Pancreatic cancer SNP array 17952125 chrX 20018257 20018290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20026394 20056741 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 20039129 20061035 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 20042975 20043069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20044001 20046000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 20045427 20077242 Copy number Alcoholism Illumina Human Hap703W-Quad BeadChip 21790672 chrX 20046001 20193500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 20047978 20069450 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 20051946 20077529 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 20053929 20079397 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 20054617 20088703 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 20054617 20212446 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 20056741 21587172 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 22307284 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 22314370 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 22316306 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 26027482 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 27835783 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 31992422 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 32198910 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 37423387 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 41191146 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 46950530 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 48049664 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 20056741 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 20061035 20763103 LOH Normal High-resolution SNP genotyping 21211785 chrX 20061035 48049664 LOH Normal High-resolution SNP genotyping 21211785 chrX 20061035 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 20061035 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 20066646 39589431 LOH Normal High-resolution SNP genotyping 21211785 chrX 20069450 22225401 LOH Normal High-resolution SNP genotyping 21211785 chrX 20069450 25491250 LOH Normal High-resolution SNP genotyping 21211785 chrX 20069450 25550641 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 20693589 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 22225401 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 23206878 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 26027482 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 36567043 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077529 49050447 LOH Normal High-resolution SNP genotyping 21211785 chrX 20077949 20194671 Gain or loss Breast cancer - 20668451 chrX 20077949 20194671 Gain or loss Cancer - 20668451 chrX 20077949 20194671 Gain or loss Lung cancer - 20668451 chrX 20077949 20194671 Gain or loss Ovarian cancer - 20668451 chrX 20077949 20194671 Gain or loss Pancreas cancer - 20668451 chrX 20077949 20194671 Gain or loss Prostate cancer - 20668451 chrX 20079397 20693589 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 21583693 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 21659076 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 22307284 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 26027482 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 26554067 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 27835783 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 32200779 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 37581996 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 48124935 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 49019677 LOH Normal High-resolution SNP genotyping 21211785 chrX 20079397 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 20088703 22314370 LOH Normal High-resolution SNP genotyping 21211785 chrX 20088703 23048229 LOH Normal High-resolution SNP genotyping 21211785 chrX 20088703 25550641 LOH Normal High-resolution SNP genotyping 21211785 chrX 20088703 34864257 LOH Normal High-resolution SNP genotyping 21211785 chrX 20088703 48124935 LOH Normal High-resolution SNP genotyping 21211785 chrX 20088703 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 20088703 49019677 LOH Normal High-resolution SNP genotyping 21211785 chrX 20148501 20148587 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 20193501 20197000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 20197001 21301500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 20212446 25550641 LOH Normal High-resolution SNP genotyping 21211785 chrX 20229889 20230084 Gain and loss Pancreatic cancer SNP array 17952125 chrX 20256751 20256851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20269467 20293496 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 20302951 21941275 LOH Normal High-resolution SNP genotyping 21211785 chrX 20308064 22084480 LOH Normal High-resolution SNP genotyping 21211785 chrX 20401698 20401786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20438330 41186104 LOH Normal High-resolution SNP genotyping 21211785 chrX 20578809 20578959 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20618673 20618745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20661330 20661422 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20697969 20700574 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 206990 207549 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 20729371 20729471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20733333 20733433 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20769944 20770067 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 207750 2094671 Copy number Autism exome sequencing 22495311 chrX 20851572 25550641 LOH Normal High-resolution SNP genotyping 21211785 chrX 20851572 31992422 LOH Normal High-resolution SNP genotyping 21211785 chrX 20922338 37399284 LOH Normal High-resolution SNP genotyping 21211785 chrX 20942893 20942969 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 20972848 20991868 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 20992412 20992518 Gain and loss Pancreatic cancer SNP array 17952125 chrX 210057 515395 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 210057 515395 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 21052415 21052515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 21123154 21123213 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 21152217 21430436 Gain and loss Pancreatic cancer SNP array 17952125 chrX 21301501 21303500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 21302900 21580700 Gain or loss Breast cancer - 20668451 chrX 21302900 21580700 Gain or loss Cancer - 20668451 chrX 21302900 21580700 Gain or loss Lung cancer - 20668451 chrX 21302900 21580700 Gain or loss Ovarian cancer - 20668451 chrX 21302900 21580700 Gain or loss Pancreas cancer - 20668451 chrX 21302900 21580700 Gain or loss Prostate cancer - 20668451 chrX 21303501 21584000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 21344265 21378470 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 21433629 21435563 Gain and loss Pancreatic cancer SNP array 17952125 chrX 21483748 21535887 Gain and loss Pancreatic cancer SNP array 17952125 chrX 21558135 22855289 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 21584001 21587000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 21587001 23260000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 21587172 21631456 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 21616255 27219272 LOH Normal High-resolution SNP genotyping 21211785 chrX 21617411 21660530 Gain and loss Pancreatic cancer SNP array 17952125 chrX 21631456 49019677 LOH Normal High-resolution SNP genotyping 21211785 chrX 21633762 21636502 Gain and loss Pancreatic cancer SNP array 17952125 chrX 21650482 21650581 Gain and loss Pancreatic cancer SNP array 17952125 chrX 21659076 21696101 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 21661100 21661200 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 21677970 21723867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 21696101 23206878 LOH Normal High-resolution SNP genotyping 21211785 chrX 21718499 21772611 Gain and loss Pancreatic cancer SNP array 17952125 chrX 21727285 21727380 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 21779175 21779275 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 21800000 24900000 Microdeletion Autism Affymetrix 500K SNP arrays 20844286 chrX 21810216 22025985 Gain and loss Pancreatic cancer SNP array 17952125 chrX 21906965 21912259 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 2192276 21868763 Copy number Autism exome sequencing 22495311 chrX 22050722 22052231 Gain and loss Pancreatic cancer SNP array 17952125 chrX 22200000 24400000 Gain Normal Human genome CGH 43k ARRAY PLATFORM 22144094 chrX 22225401 22239225 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 22239225 27174608 LOH Normal High-resolution SNP genotyping 21211785 chrX 22239225 49023506 LOH Normal High-resolution SNP genotyping 21211785 chrX 22239225 57767627 LOH Normal High-resolution SNP genotyping 21211785 chrX 22305609 22305715 Gain and loss Pancreatic cancer SNP array 17952125 chrX 22305610 22305715 Gain and loss Pancreatic cancer SNP array 17952125 chrX 22307284 22354559 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 22314370 22377400 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 22316306 22381873 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 22329925 22329970 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 22354559 23206878 LOH Normal High-resolution SNP genotyping 21211785 chrX 22354559 25491250 LOH Normal High-resolution SNP genotyping 21211785 chrX 22354559 27835783 LOH Normal High-resolution SNP genotyping 21211785 chrX 22354559 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 22377400 23199289 LOH Normal High-resolution SNP genotyping 21211785 chrX 22377400 25491250 LOH Normal High-resolution SNP genotyping 21211785 chrX 22377400 25550641 LOH Normal High-resolution SNP genotyping 21211785 chrX 22377400 37584569 LOH Normal High-resolution SNP genotyping 21211785 chrX 22381873 23206878 LOH Normal High-resolution SNP genotyping 21211785 chrX 22381873 34911769 LOH Normal High-resolution SNP genotyping 21211785 chrX 22381873 57782088 LOH Normal High-resolution SNP genotyping 21211785 chrX 223937 515395 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 223937 515395 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 22435050 22467966 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 22443905 22444013 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 22465472 22465567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 22509191 22509291 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 22582486 22582800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 22702263 22702363 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 22730409 23040521 Copy number Alcoholism Illumina Human Hap719W-Quad BeadChip 21790672 chrX 22737148 22772221 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 22765470 22765758 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 22772481 22793841 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 22777735 22779861 Gain and loss Pancreatic cancer SNP array 17952125 chrX 22777997 22804594 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 22793841 39611790 LOH Normal High-resolution SNP genotyping 21211785 chrX 22804594 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 2281367 2833545 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 22829183 23214712 Loss Autism qPCR 20531469 chrX 22829183 23324893 Deletion Normal - 21701786 chrX 22844170 22897714 Loss Autism qPCR, Illumina1M 20531469 chrX 22853532 22854544 Gain and loss Pancreatic cancer SNP array 17952125 chrX 22860224 22907454 Loss Autism qPCR 20531469 chrX 22860224 22923580 Loss Autism qPCR 20531469 chrX 22871137 22871496 Gain and loss Pancreatic cancer SNP array 17952125 chrX 22880100 22880154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 22892380 23013494 Loss Autism qPCR, Agilent1M and Illumina 1M 20531469 chrX 22986534 22986610 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 23013250 23116188 Loss Autism qPCR 20531469 chrX 2302513 2304769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 23048229 23069043 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 23069043 25550641 LOH Normal High-resolution SNP genotyping 21211785 chrX 23112752 23172076 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23116188 23280628 Copy number Autism qPCR, Illumina1M 20531469 chrX 23159684 23159784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 23199289 23218445 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2320148 2412369 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23204284 23223211 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 23206878 23227780 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 23218445 25491250 LOH Normal High-resolution SNP genotyping 21211785 chrX 23223211 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 23227780 25550641 LOH Normal High-resolution SNP genotyping 21211785 chrX 23227780 26554067 LOH Normal High-resolution SNP genotyping 21211785 chrX 23227780 29909784 LOH Normal High-resolution SNP genotyping 21211785 chrX 23227780 36574283 LOH Normal High-resolution SNP genotyping 21211785 chrX 23260001 23263500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 23262905 23324839 Duplication Autism - 20663923 chrX 23262906 23324839 Copy number Autism exome sequencing 22495311 chrX 23263501 23356500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 23284985 23285087 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23338050 23338150 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 23356501 23358500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 23358501 23694000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 23367014 23372399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 23368208 23368308 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 23445289 23464172 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23479278 23521035 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23484383 23484483 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 23528223 23528296 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 23559984 23560081 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23559984 23560082 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23560947 23581490 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23604901 24085600 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 23611138 23685694 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2367501 2442500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 2368140 2416150 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 23683315 23716384 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 23685780 23717281 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23694001 23695500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 23695501 23977000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 23724831 23752377 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 23761498 23804960 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23832722 23855743 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23836039 24368570 Gain Bladder cancer array-CGH 21909424 chrX 23910960 23911091 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23910961 23911090 Gain and loss Pancreatic cancer SNP array 17952125 chrX 239122 239180 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 23929460 23989474 Gain and loss Pancreatic cancer SNP array 17952125 chrX 23977001 23978500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 23978501 24292000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 24011288 24011602 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 24050001 46900002 Loss Ovarian cancer QPCR 19835627 chrX 24088645 24091089 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24140535 24143189 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24153696 24169755 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 24202622 24202953 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 24207347 24207694 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24243211 24312132 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24291181 24291424 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24292001 24293500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 24293501 24930000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 24300000 29300000 Duplication abnormal development HR-CGH, Array-CGH 18461090 chrX 24339620 24424932 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24410020 24410375 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2442501 2538000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 24459683 24460408 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24463271 24463345 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 24471721 24774757 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24486125 24600715 Amplification Cancer Affymetrix SNP6.0 arrays 20164919 chrX 24522215 24522344 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24566166 24566843 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24569013 24569113 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 24608755 24608850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 24665951 24666280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 24666688 24666786 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2468457 2469476 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 24781949 24793511 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24807319 24808009 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24828387 24828487 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 24838423 24838713 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24885617 25787985 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 24900000 29400000 Gain Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 chrX 24900000 37500000 Copy number Normal - 21701786 chrX 24900000 37500000 Copy number X-linked lissencephaly array-CGH 21569638 chrX 24900000 59500000 Loss Thyroid cancer FISH 19087340 chrX 24930001 24951500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 24931732 24943986 Copy number Autism exome sequencing 22495311 chrX 24951501 24965000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 24964346 24964420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 24965001 24969000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 24969001 27308000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 24969312 24969412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 24972155 24972981 Gain and loss Pancreatic cancer SNP array 17952125 chrX 24992296 25021203 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 25000000 34000000 Loss Hodgkin's lymphoma 105K oligonucleotide array CGH 18641027 chrX 25014864 25014964 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25018555 25018655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25104341 25104441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25190007 25190045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25226334 25226434 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2525574 2562773 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 25312855 25312950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2538001 2569000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 25387738 25387825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25412489 25412586 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25423496 25424101 Gain and loss Pancreatic cancer SNP array 17952125 chrX 25568263 25583583 Deletion Sertoli-cell only syndrome Array-CGH 20877625 chrX 25580813 35591464 Loss Developmental delay affymetrix genechip 500K/SNP 6.95 array 21147756 chrX 25591458 26554067 LOH Normal High-resolution SNP genotyping 21211785 chrX 25591458 27787512 LOH Normal High-resolution SNP genotyping 21211785 chrX 25591458 27835783 LOH Normal High-resolution SNP genotyping 21211785 chrX 25591458 37584569 LOH Normal High-resolution SNP genotyping 21211785 chrX 256050 256337 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 25606107 25644501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 25610888 25646423 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 25616273 26554067 LOH Normal High-resolution SNP genotyping 21211785 chrX 25616273 27835783 LOH Normal High-resolution SNP genotyping 21211785 chrX 25616273 32200779 LOH Normal High-resolution SNP genotyping 21211785 chrX 25616273 37423387 LOH Normal High-resolution SNP genotyping 21211785 chrX 25616273 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 25616273 37580043 LOH Normal High-resolution SNP genotyping 21211785 chrX 25616273 37585882 LOH Normal High-resolution SNP genotyping 21211785 chrX 25616273 47029606 LOH Normal High-resolution SNP genotyping 21211785 chrX 2562773 9334554 LOH Normal High-resolution SNP genotyping 21211785 chrX 25644501 27787512 LOH Normal High-resolution SNP genotyping 21211785 chrX 25646423 31884665 LOH Normal High-resolution SNP genotyping 21211785 chrX 2565522 2573448 Gain and loss Pancreatic cancer SNP array 17952125 chrX 25664504 25664583 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2569001 2617500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 25739860 25739919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25752894 25752994 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25787985 32696740 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 25798350 25798449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25810828 25811030 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 25853787 25893088 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 25857861 25858194 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 25893088 44918883 LOH Normal High-resolution SNP genotyping 21211785 chrX 25916117 25918509 Gain and loss Pancreatic cancer SNP array 17952125 chrX 25938375 25939568 Gain and loss Pancreatic cancer SNP array 17952125 chrX 25971621 25972844 Gain and loss Pancreatic cancer SNP array 17952125 chrX 25995448 25995780 Gain and loss Pancreatic cancer SNP array 17952125 chrX 25997633 28150814 LOH Normal High-resolution SNP genotyping 21211785 chrX 260000 21650000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 26016460 26016492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2602589 2652702 Gain and loss Pancreatic cancer SNP array 17952125 chrX 26027482 26067346 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 26067346 31992422 LOH Normal High-resolution SNP genotyping 21211785 chrX 26067346 31996165 LOH Normal High-resolution SNP genotyping 21211785 chrX 26067346 37584569 LOH Normal High-resolution SNP genotyping 21211785 chrX 26122131 26122256 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 26130000 41580000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 2617501 2638500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 2618700 2618892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 26235024 26235124 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 26273080 26276213 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 2629805 2868482 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chrX 26351627 26351712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2638501 2683000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 26465137 26465729 Gain and loss Pancreatic cancer SNP array 17952125 chrX 26525803 26526126 Gain and loss Pancreatic cancer SNP array 17952125 chrX 26552439 26562399 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 26554067 26646956 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 26567916 26568052 Gain and loss Pancreatic cancer SNP array 17952125 chrX 26567916 26568153 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2663476 2727316 Gain and loss Pancreatic cancer SNP array 17952125 chrX 26641665 26641745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 26646956 27835783 LOH Normal High-resolution SNP genotyping 21211785 chrX 26646956 31982759 LOH Normal High-resolution SNP genotyping 21211785 chrX 26646956 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 26712415 26712470 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 26720578 26730962 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 26803607 26803707 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2683001 2699000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 26864849 26864919 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 26864856 26864925 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 2693677 139604640 Increase Cancer CGH 20581869 chrX 2693677 154405100 Increase Cancer CGH 20581869 chrX 2693677 71698771 Deletion Acute myeloid leukemia - 21251322 chrX 2699001 2709500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 2701466 57766636 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2701466 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2701466 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2701466 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 2702529 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2702653 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2702653 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 27029895 27030009 Gain and loss Pancreatic cancer SNP array 17952125 chrX 27029896 27030009 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2704240 8998806 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 2705521 2812818 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2705521 3251554 LOH Normal High-resolution SNP genotyping 21211785 chrX 2705521 57719679 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2705521 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2705521 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2705521 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2705521 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 2709012 2737614 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2709012 2838702 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2709012 2842371 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2709012 2860766 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2709012 2866383 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2709012 3251554 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2709012 3251554 LOH Normal High-resolution SNP genotyping 21211785 chrX 2709012 3587549 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2709012 3666346 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2709012 3933648 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2709012 8423258 LOH Normal High-resolution SNP genotyping 21211785 chrX 2709012 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2709012 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2709012 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2709012 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 2709012 9334554 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2709501 3640000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 2711073 2814530 Deletion Sertoli-cell only syndrome Array-CGH 20877625 chrX 2711895 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2711895 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 2713391 101311704 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 2713391 154582692 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 2713391 61840553 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 2713391 72020536 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 2715683 3587549 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2715683 3587549 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2715683 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2715683 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2715683 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2715683 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2715683 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 27174608 27251288 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2720411 7450714 Copy number Lung cancer paired-end sequencing 18438408 chrX 27219272 27368808 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 27238572 27240158 Gain and loss Pancreatic cancer SNP array 17952125 chrX 27251288 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 27308001 27310000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 27310001 27758000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 27368187 27411569 Gain and loss Pancreatic cancer SNP array 17952125 chrX 27368569 27372644 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 27368808 32129343 LOH Normal High-resolution SNP genotyping 21211785 chrX 27372472 27372562 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 2737614 2766065 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2740357 2794222 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2743090 2812818 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743090 2838702 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743090 2842371 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743090 2855468 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2743090 2860766 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2743090 2866383 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2743090 3251300 LOH Normal High-resolution SNP genotyping 21211785 chrX 2743090 3251554 LOH Normal High-resolution SNP genotyping 21211785 chrX 2743090 3587549 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743090 3587549 LOH Normal High-resolution SNP genotyping 21211785 chrX 2743090 3965956 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2743090 3967769 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2743090 44185062 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743090 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743090 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2743090 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743090 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 2743090 9334554 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743090 9619449 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743277 2759617 Loss Normal 244K array 17666407 chrX 2743642 3251554 LOH Normal High-resolution SNP genotyping 21211785 chrX 2743642 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743642 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2743642 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2743642 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 2743642 9332929 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2745726 2842371 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2745726 2866383 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2745726 3251554 LOH Normal High-resolution SNP genotyping 21211785 chrX 2745726 3331867 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2745726 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2745726 6458748 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2745726 6467305 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2745726 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2745726 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2745726 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2745726 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 27472316 27484332 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 27472541 27472625 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2750706 2812818 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2750706 2838702 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2750706 2860766 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2750706 3251554 LOH Normal High-resolution SNP genotyping 21211785 chrX 2750706 3604276 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2750706 3967769 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2750706 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2750706 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 2750706 9334554 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 27524670 27526565 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2758340 2833093 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 27599081 27600124 Gain and loss Pancreatic cancer SNP array 17952125 chrX 27609996 27610897 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2761096 3142135 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 2761096 3595641 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2761096 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2761096 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2761096 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2761096 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 2761096 9332929 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 27624734 27626114 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 2766065 2838702 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2766065 2842371 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2766065 3587549 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2766065 44185062 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2766065 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2766065 8418637 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2766065 8418637 LOH Normal High-resolution SNP genotyping 21211785 chrX 2766065 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2766065 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2766065 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2766065 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 27706499 27706561 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 27742219 27787652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 27745312 27790590 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 27757791 27758766 Gain and loss Pancreatic cancer SNP array 17952125 chrX 27758001 27759500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 27759501 27958500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 2777334 2812818 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2777334 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2777334 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2777334 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2777334 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 27787512 27905065 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 27835783 27911906 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2785264 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 27905065 29962023 LOH Normal High-resolution SNP genotyping 21211785 chrX 27905065 32214985 LOH Normal High-resolution SNP genotyping 21211785 chrX 27911906 30167354 LOH Normal High-resolution SNP genotyping 21211785 chrX 27911906 30498259 LOH Normal High-resolution SNP genotyping 21211785 chrX 27911906 32200779 LOH Normal High-resolution SNP genotyping 21211785 chrX 27911906 32201246 LOH Normal High-resolution SNP genotyping 21211785 chrX 27911906 32214985 LOH Normal High-resolution SNP genotyping 21211785 chrX 27911906 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 27911906 37581996 LOH Normal High-resolution SNP genotyping 21211785 chrX 27911906 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 27958501 27971500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 27962843 28110213 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 27971501 27976500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 27976501 30143000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 28089986 28121412 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 2809234 2829748 Loss Normal 244K array 17666407 chrX 28095956 28096029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 28107442 28359884 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 2812818 2855468 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 28162190 28214748 Duplication Oligozoospermia Array-CGH 20877625 chrX 2818673 2840753 Gain and loss Pancreatic cancer SNP array 17952125 chrX 28246434 28246512 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2832010 2857392 Deletion Mental retardation PCR 20877625 chrX 2833093 2857771 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 28358092 28388488 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 2838702 2860766 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 28395721 28395821 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 28400903 28659988 Duplication Intellectual disability Array CGH 22102821 chrX 2842371 2866383 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 2846213 2875672 Gain and loss Pancreatic cancer SNP array 17952125 chrX 28515602 29883938 Copy number Autism exome sequencing 22495311 chrX 28515886 28515955 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2852598 3206030 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 2855468 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2855468 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2855468 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2855468 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2855468 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 28567118 29733594 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2857771 8451577 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2857771 8451577 LOH Normal High-resolution SNP genotyping 21211785 chrX 2860766 33448800 LOH Normal High-resolution SNP genotyping 21211785 chrX 2860766 3587549 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2860766 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2860766 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2860766 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 2862672 2892494 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 28631750 28631850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 28655561 28655601 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2866383 3587549 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2866383 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2866383 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2866383 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 2866383 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 28672583 28673195 Gain and loss Pancreatic cancer SNP array 17952125 chrX 28674014 28674114 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 28701838 28701917 Gain and loss Pancreatic cancer SNP array 17952125 chrX 28732962 28751750 Loss Autism qPCR 20531469 chrX 28748511 28748583 Gain and loss Pancreatic cancer SNP array 17952125 chrX 28760624 28760744 Gain and loss Pancreatic cancer SNP array 17952125 chrX 28760626 28760744 Gain and loss Pancreatic cancer SNP array 17952125 chrX 28771827 28771927 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2879459 2945564 Loss Normal 244K array 17666407 chrX 288083 289662 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 28855107 28855147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2886678 154643903 Loss Multiple myeloma FISH 20724749 chrX 28868552 28868640 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 28931559 29478966 Gain Autism qPCR, Agilent1M 20531469 chrX 28967595 28967652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29030410 29191281 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chrX 29065340 29065699 Copy number Hepatocellular carcinoma Illumina HiSeq Platform 22267523 chrX 29232922 29233022 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29234613 29234685 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29269149 29269329 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29269169 29269269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29400000 31500000 Copy number Normal - 21701786 chrX 29400000 31500000 Deletion,duplication Disorders of sex development - 22290220 chrX 29400000 31500000 Duplication Congenital abnormalities BAC array CGH platform 21549014 chrX 29400000 31500000 Duplication Developmental delay BAC array CGH platform 21549014 chrX 29400000 31500000 Duplication Mental retardation BAC array CGH platform 21549014 chrX 29400000 31500000 Gain Gastric adenocarcinoma MacArray(TM) Karyo 1400 array CGH 19115996 chrX 29400000 31500000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 chrX 29400000 31500000 Microdeletion Duchenne-like muscular dystrophy aCGH 22470819 chrX 29400000 31500000 Microdeletion Muscular dystrophy aCGH 22470819 chrX 29446046 29557942 Loss Autism qPCR, Agilent1M 20531469 chrX 29510376 29511850 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 29529224 29529316 Gain and loss Pancreatic cancer SNP array 17952125 chrX 29529224 29529405 Gain and loss Pancreatic cancer SNP array 17952125 chrX 2963446 49437557 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chrX 29657490 29657577 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29661735 29661835 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2969624 2969904 Gain and loss Pancreatic cancer SNP array 17952125 chrX 297290 297619 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 29731217 29731402 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 29736042 29753296 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 29744957 37242953 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 29748211 29751265 Loss Normal 244K array 17666407 chrX 29780995 29781095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 2978214 3024108 Gain and loss Pancreatic cancer SNP array 17952125 chrX 29823259 29823354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29824737 29882319 Deletion Mental retardation Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 29841633 29841733 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29908834 29908984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 29909784 30063272 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 29915422 29949328 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 29962023 30042703 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 29967317 30171126 Deletion Mental retardation - 20877625 chrX 29993334 29997861 Gain and loss Pancreatic cancer SNP array 17952125 chrX 30009906 30009939 Gain Normal 244K array 17666407 chrX 30013639 30015147 Gain and loss Pancreatic cancer SNP array 17952125 chrX 30019826 30029812 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3003888 154492983 Gain Non-syndromic sensorineural hearing loss array CGH 18496225 chrX 30042703 37585882 LOH Normal High-resolution SNP genotyping 21211785 chrX 30063272 36567043 LOH Normal High-resolution SNP genotyping 21211785 chrX 30082243 30087149 Gain and loss Pancreatic cancer SNP array 17952125 chrX 30099184 30144391 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 30131772 30902339 Duplication Honadal dysgenesis Affymetrix Genome-Wide Human SNP Array 6.0 21408189 chrX 30143001 30179500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 30152773 30152994 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 30170062 30899099 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 chrX 30173066 30218722 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 30179501 30236000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 30198354 31992422 LOH Normal High-resolution SNP genotyping 21211785 chrX 30200993 30201093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 30203169 30203269 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 30236001 30237500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 30237501 30580500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 30257687 30258518 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 30269460 30269560 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3028395 3073279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 3031202 154782695 Copy number Normal - 22034057 chrX 30336598 30355571 Gain and loss Pancreatic cancer SNP array 17952125 chrX 30395228 30395467 Gain and loss Pancreatic cancer SNP array 17952125 chrX 30431133 30508381 Gain and loss Pancreatic cancer SNP array 17952125 chrX 30436226 31094484 Loss Developmental delay affymetrix genechip 500K/SNP 6.96 array 21147756 chrX 3044382 3044582 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 30469634 30469934 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 30498259 30568275 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 30511767 30511855 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 305151 1990747 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 30523895 30523947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 30553468 30569137 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 30568275 32132657 LOH Normal High-resolution SNP genotyping 21211785 chrX 30580501 30582000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 30581397 30658646 Copy number Autism exome sequencing 22495311 chrX 30582001 32519500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 30590000 31040000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 30608111 30637454 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3064247 3064340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 30675274 30840317 Copy number Alcoholism Illumina Human Hap722W-Quad BeadChip 21790672 chrX 30713301 30734900 Loss Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chrX 30771769 30805762 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 3084190 3626369 Amplification Normal Agilent Mouse Genome CGH Microarray 244A platform and a custom 56K Agilent mouse microarray platform 18598341 chrX 30849176 30849727 Gain and loss Pancreatic cancer SNP array 17952125 chrX 30897002 32989086 Gain and loss Pancreatic cancer SNP array 17952125 chrX 30898403 32989184 Copy number Esophageal adenocarcinoma Illumina Sentrix HumanHap300 BeadChips 18519675 chrX 30907133 32653344 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chrX 30907133 33748113 Copy number Breast cancer high-density molecular inversion probe (MIP) arrays 21858162 chrX 309768 309840 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 309775 309839 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 31009134 31009234 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31041721 34564697 Deletion Cancer Affymetrix 250K Sty array 20164920 chrX 31046000 31495434 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31046000 31499751 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31046940 31047040 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31047265 33267647 Copy number Gastric cancer Human cDNA microarrays 17229543 chrX 31047265 33267647 Copy number Type 2 diabetes Mitotracker Green probe 21760887 chrX 31047265 33267647 Deletion Cardiomyopathy References 22138850 chrX 31047265 33267647 Deletion Muscular dystrophy FISH 21149563 chrX 31047265 33267647 Deletion Skeletal myopathy References 22138850 chrX 31047265 33267647 Duplication Autism 1M single-nucleotide polymorphism arrays 21484199 chrX 31047265 33267647 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chrX 31047265 33267647 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chrX 31047265 33267647 Insertion Duchenne-like muscular dystrophy References 22138850 chrX 31047265 33267647 Insertion Muscular dystrophy References 22138850 chrX 31047266 33139594 Copy number Autism exome sequencing 22495311 chrX 31084128 31084228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31085818 31085918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31123273 31278805 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 31145151 31145246 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31171279 31171359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3131355 10639576 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chrX 31319804 31319884 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 313250 313615 Copy number Alcoholism Illumina Human Hap702W-Quad BeadChip 21790672 chrX3 133500000 137800000 Copy number Kartagener syndrome reference 16639409 chrX 313529 532251 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 31456194 31456281 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 31463943 31464018 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31487386 31487701 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 31500000 37500000 Copy number Colorectal cancer Affymetrix SNP 6.0 array 21645411 chrX 31500000 37500000 Copy number Normal - 21701786 chrX 31500000 37500000 Copy number Ornithine transcarbamylase deficiency long padlock probes(LPPs) 21467225 chrX 31500000 37500000 Gain Myxofibrosarcoma Array CGH 16751306 chrX 31503750 31715250 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31518523 31948537 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31521649 31521749 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31533250 31645750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31552689 31729092 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 31555638 31864405 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31563750 31981750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31573250 31702250 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31578750 31989750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31584297 31995179 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31596512 31596588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31607250 31615750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31608059 31811249 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31620852 31877576 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31637403 31824256 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31641000 31661000 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31660681 31660774 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31703750 31969750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31720250 32212750 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31723560 31799723 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31736096 31781840 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31736250 31784750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31743567 31743667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31754974 31800055 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 3175975 15528787 Duplication XY gonadal dysgenesis 105A Agilent array CGH 20685758 chrX 31793278 31822704 Loss Autism qPCR 20531469 chrX 31797750 31939750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31838750 32014750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31855778 32003438 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31867000 32037000 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 31879839 31879932 Gain and loss Pancreatic cancer SNP array 17952125 chrX 31882664 31890789 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 31884665 31902157 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 31902157 37411588 LOH Normal High-resolution SNP genotyping 21211785 chrX 3190495 3192787 Loss Normal 244K array 17666407 chrX 31931910 31932010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 31982759 31997713 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 31983676 31984512 Gain and loss Pancreatic cancer SNP array 17952125 chrX 31992422 32002020 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 31996165 32007539 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 31997713 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 32000905 32000995 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32001114 32001293 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32002020 37423387 LOH Normal High-resolution SNP genotyping 21211785 chrX 32002020 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 32002020 37575071 LOH Normal High-resolution SNP genotyping 21211785 chrX 32002020 37584569 LOH Normal High-resolution SNP genotyping 21211785 chrX 32002020 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 32007539 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 32028600 32028695 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32030750 32191750 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32071707 32071782 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32073457 32469353 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32094750 32474250 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32097213 32321945 Duplication Autism PCR 21484199 chrX 32098595 32181888 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32100618 32315937 Gain Autism qPCR 20531469 chrX 32112371 32414278 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 32129343 32137860 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 32132657 32219273 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 32135176 33596767 Copy number Alcoholism Illumina Human Hap715W-Quad BeadChip 21790672 chrX 32137860 37585882 LOH Normal High-resolution SNP genotyping 21211785 chrX 32167387 37878805 Deletion Chronic granulomatous disease aCGH 22383943 chrX 3217249 3217810 Loss Normal 244K array 17666407 chrX 3219694 3240088 Loss or gain Normal 244K array 17666407 chrX 32198910 32223284 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 3219972 3255235 Gain and loss Pancreatic cancer SNP array 17952125 chrX 32200779 32227539 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 32201246 32228160 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 32206651 32234184 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 32214985 32237385 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 32219273 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 32223284 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 32227539 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 32227539 37580043 LOH Normal High-resolution SNP genotyping 21211785 chrX 32228160 37581996 LOH Normal High-resolution SNP genotyping 21211785 chrX 32233264 32233319 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32234184 37399284 LOH Normal High-resolution SNP genotyping 21211785 chrX 32234184 37580043 LOH Normal High-resolution SNP genotyping 21211785 chrX 32237385 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 32237385 37581996 LOH Normal High-resolution SNP genotyping 21211785 chrX 32237385 43702842 LOH Normal High-resolution SNP genotyping 21211785 chrX 32275827 32453261 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 322784 65611216 Deletion Intellectual disability Array CGH 22102821 chrX 32306153 32336978 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 32313750 32622750 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32317499 32317599 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32383079 32383178 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32390785 154763822 Deletion lymphocytic leukemia Signature Chip whole genome 21291569 chrX 32390785 154873822 Copy number lymphocytic leukemia Signature Chip whole genome 21291569 chrX 32414798 34247257 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 32425250 32488250 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32442910 32443010 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32444250 32455250 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32464192 32464274 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 32467618 32467698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3251300 3302195 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 3251300 3604276 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 3251554 3337490 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 3251554 3362955 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 3251554 3427313 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 3251554 3604276 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 3251554 3628828 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 32519501 32521000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 32521001 33376000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 32521250 32633250 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32554358 32555576 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 32561500 32628500 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32572850 32629450 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32575950 32719450 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32662600 32842800 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32676750 32794750 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 3268080 3268153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 32696740 37236779 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 32706289 32779413 Deletion Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32713705 32713737 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3274907 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 32761242 33013846 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 32761250 33026750 Duplication Duchenne and Becker muscular dystrophies CGH 18663755 chrX 3279067 3279117 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32819325 32819495 Gain and loss Pancreatic cancer SNP array 17952125 chrX 32829449 32831355 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 32842323 32842423 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 32897244 32898999 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 32948977 33330592 Gain Autism Agilent 1M 20531469 chrX 3302195 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 3302195 9334554 LOH Normal High-resolution SNP genotyping 21211785 chrX 3304917 3305541 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 3307472 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 3307472 9332929 LOH Normal High-resolution SNP genotyping 21211785 chrX 33098311 33098699 Gain and loss Pancreatic cancer SNP array 17952125 chrX 33118501 33118824 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 33176448 33191717 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 33189427 33189947 Gain and loss Pancreatic cancer SNP array 17952125 chrX 33302642 33302823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3331867 8418637 LOH Normal High-resolution SNP genotyping 21211785 chrX 3331867 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 33336205 36166788 LOH Normal High-resolution SNP genotyping 21211785 chrX 33370409 33370454 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3337490 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 3337490 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 33376001 34058500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 33448800 33516289 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 33463141 33463231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 33476488 33476588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 33479897 33479984 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 33516289 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 33598786 33601181 Loss Normal 244K array 17666407 chrX 33619757 33619956 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 3362955 6954377 LOH Normal High-resolution SNP genotyping 21211785 chrX 3362955 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 33662846 33662935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 33718092 33718156 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 33802997 33831257 Loss Normal 244K array 17666407 chrX 33907677 33910052 Gain and loss Pancreatic cancer SNP array 17952125 chrX 33924787 33925354 Gain and loss Pancreatic cancer SNP array 17952125 chrX 33953123 33982964 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3395368 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 33989102 34021440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 33993732 33993821 Gain and loss Pancreatic cancer SNP array 17952125 chrX 34058501 34060500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 34059392 34066693 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 34060501 36936000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 34151300 34151400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34165496 34166223 Gain and loss Pancreatic cancer SNP array 17952125 chrX 34171242 34171331 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34183480 34204738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 34195538 34195638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34242256 34242452 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34242448 34242603 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34248825 34322656 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34260512 34260606 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34323266 34355379 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34361867 34457885 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34364936 36358678 LOH Normal High-resolution SNP genotyping 21211785 chrX 34386836 34874393 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 34404840 34435062 Gain and loss Pancreatic cancer SNP array 17952125 chrX 34413225 34447261 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 3443521 3443653 Gain and loss Pancreatic cancer SNP array 17952125 chrX 34454446 34500358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 34459603 34496380 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34503280 34691786 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 3452647 3452672 Deletion Multiple Epiphyseal Dysplasia TaqMan Copy Number Assay 20877625 chrX 34550592 34595786 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 34697186 34770391 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34714816 34714886 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34715725 34715825 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34720570 34722684 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3472909 3937901 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 34753374 34753447 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34763902 34763992 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34776093 34807994 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34780354 34813492 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 34796906 34829265 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 34810293 34830991 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34835099 34862044 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34836764 34837753 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3484259 3484362 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3484259 3484363 Gain and loss Pancreatic cancer SNP array 17952125 chrX 34864257 34928058 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 34865208 34901163 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34896111 37963462 LOH Normal High-resolution SNP genotyping 21211785 chrX 34908032 34965178 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 34911769 34975132 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 34928058 57766636 LOH Normal High-resolution SNP genotyping 21211785 chrX 34948838 34948938 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 34975132 39611790 LOH Normal High-resolution SNP genotyping 21211785 chrX 34985132 35011539 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 35017986 35098804 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 3502422 3515291 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 35027858 35028096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 35028095 35028212 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 35100988 35130401 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 35132204 37841028 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 3518660 3518767 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3519302 3624839 Gain and loss Pancreatic cancer SNP array 17952125 chrX 35261512 35261604 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 35351636 35355203 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 35403868 35404749 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3542045 3553586 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 3548576 3567993 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 35503107 41742892 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chrX 3552847 3552957 Gain and loss Pancreatic cancer SNP array 17952125 chrX 35537364 35544317 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 35579971 35580939 Gain and loss Pancreatic cancer SNP array 17952125 chrX 35592481 35592796 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 35624020 35625920 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 35697542 35767921 Gain and loss Pancreatic cancer SNP array 17952125 chrX 35720985 35721079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 35771981 37719464 LOH Normal High-resolution SNP genotyping 21211785 chrX 35799713 35799819 Gain and loss Pancreatic cancer SNP array 17952125 chrX 35843475 35922583 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3587549 3611908 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 3598027 3598082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 35988882 35989417 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3604276 8418637 LOH Normal High-resolution SNP genotyping 21211785 chrX 3604276 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 3604276 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 36065465 36065565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3611908 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 3611908 45348003 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3611908 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3611908 6954377 LOH Normal High-resolution SNP genotyping 21211785 chrX 3611908 6977886 LOH Normal High-resolution SNP genotyping 21211785 chrX 3611908 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3611908 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 3611908 8459029 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3611908 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 3611908 9332929 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3611908 9332929 LOH Normal High-resolution SNP genotyping 21211785 chrX 3611908 9334554 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3611908 9334554 LOH Normal High-resolution SNP genotyping 21211785 chrX 36121624 36121722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3616225 3616642 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 36162423 36162523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 36166788 36434350 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3619472 3619526 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 36240230 36240311 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3628506 3629002 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3628828 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 36304782 38885633 LOH Normal High-resolution SNP genotyping 21211785 chrX 36330303 36330381 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 36358678 39050879 LOH Normal High-resolution SNP genotyping 21211785 chrX 3640001 3643500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 36434350 37721463 LOH Normal High-resolution SNP genotyping 21211785 chrX 3643501 3741500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 36481213 36481313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 36567043 36625723 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 36574283 36639173 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 36582800 36582900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 36600505 36600537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 36615099 36648833 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 36625723 39611790 LOH Normal High-resolution SNP genotyping 21211785 chrX 36625723 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 36639173 48049664 LOH Normal High-resolution SNP genotyping 21211785 chrX 36652965 36653280 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 36652979 36653029 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 36653789 36704848 Loss Normal - 20944671 chrX 3666346 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 36664248 36697083 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 3670260 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 36739972 36741155 Gain and loss Pancreatic cancer SNP array 17952125 chrX 36748914 36749009 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 36754436 36763087 Gain or loss Breast cancer - 20668451 chrX 36754436 36763087 Gain or loss Cancer - 20668451 chrX 36754436 36763087 Gain or loss Lung cancer - 20668451 chrX 36754436 36763087 Gain or loss Ovarian cancer - 20668451 chrX 36754436 36763087 Gain or loss Pancreas cancer - 20668451 chrX 36754436 36763087 Gain or loss Prostate cancer - 20668451 chrX 36771340 36771429 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 36786141 36789248 Gain and loss Pancreatic cancer SNP array 17952125 chrX 36820753 36821352 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3682417 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 36855605 36856110 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3686500 3686695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 36912745 36912955 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 36912745 36912955 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 36934111 36967115 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 36936001 36939000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 36939001 37286000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 36941155 36944309 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 36941249 36944343 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 36964740 37072736 Gain and loss Pancreatic cancer SNP array 17952125 chrX 36976059 36977745 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 37042222 37042322 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 37107394 37107990 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37120775 37121292 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37156554 37160669 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37187014 37292941 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37236779 46063066 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 37268708 37268808 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 37286001 37289500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 37289501 37739000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 37301325 37347594 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37327699 37327784 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 37395512 37428931 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37399284 37436796 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37411588 37439137 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37411588 37439137 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 3741501 3744500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 37423387 37450294 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37432727 37587666 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37436796 39611790 LOH Normal High-resolution SNP genotyping 21211785 chrX 37439137 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 3744501 3911000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 3744745 3866531 Copy number Alcoholism Illumina Human Hap685W-Quad BeadChip 21790672 chrX 37450294 39611790 LOH Normal High-resolution SNP genotyping 21211785 chrX 37450294 41186104 LOH Normal High-resolution SNP genotyping 21211785 chrX 37450294 42905531 LOH Normal High-resolution SNP genotyping 21211785 chrX 37454306 37463048 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37483184 37495184 Gain Non-syndromic sensorineural hearing loss Agilent24M 19587683 chrX 37483184 37495184 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 37485579 37485685 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37500000 146900000 Gain Testicular germ cell tumor CGH, Comparative expressed sequence hybridisation 18059402 chrX 37500000 154913754 Gain Seminomas CGH, Comparative expressed sequence hybridisation 18059402 chrX 37500000 154913754 Gain Testicular cancer CGH, Comparative expressed sequence hybridisation 18059402 chrX 37500000 42300000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 37500000 42300000 Copy number Normal - 21701786 chrX 37500000 42300000 Duplication Autism Multiplex ligation-dependent probe amplification 18925931 chrX 37500000 42300000 Duplication Mental retardation aCGH 21735175 chrX 37500000 42300000 Translocation Neurodevelopmental disorder oligonucleotide aCGH 22521361 chrX 37500000 47300000 Deletion Developmental delay 250K Nsp GeneChip array 20485326 chrX 37500000 47300000 Deletion intermittent hypotonia 250K Nsp GeneChip array 20485326 chrX 37500000 47300000 Gain Seminomas CGH, Comparative expressed sequence hybridisation 18059402 chrX 37500000 47300000 Microdeletion idiopathic pulmonary hypertension - 20679667 chrX 37500000 47300000 Microdeletion Norrie disease - 20679667 chrX 37500000 59500000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chrX 37500000 98200000 Gain Follicular lymphoma aCGH 20505157 chrX 37500000 98200000 Gain primary effusion lymphomas CGH 17116491 chrX 37547373 37569575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 37575071 37596319 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37580043 37605054 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37581996 37610120 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37584569 37618669 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37585882 37624571 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37585882 37789270 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 37585882 37789270 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 37585921 37590019 Loss Autism 1M Ailent CGH whole-genome array 21865298 chrX 37587666 38789203 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 39589431 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 39608790 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 39611790 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 41177748 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 41186104 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 41191146 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 41204128 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 45310209 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 48049664 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 48124935 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 48574748 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 49013483 LOH Normal High-resolution SNP genotyping 21211785 chrX 37587666 49019677 LOH Normal High-resolution SNP genotyping 21211785 chrX 37596319 38262806 LOH Normal High-resolution SNP genotyping 21211785 chrX 37605054 38813003 LOH Normal High-resolution SNP genotyping 21211785 chrX 37605054 39608790 LOH Normal High-resolution SNP genotyping 21211785 chrX 37605054 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 37606287 37606712 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37610120 38432916 LOH Normal High-resolution SNP genotyping 21211785 chrX 37610120 39589431 LOH Normal High-resolution SNP genotyping 21211785 chrX 37610120 46991533 LOH Normal High-resolution SNP genotyping 21211785 chrX 37610120 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 37610120 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 37618669 41186104 LOH Normal High-resolution SNP genotyping 21211785 chrX 37618669 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 37618669 44782129 LOH Normal High-resolution SNP genotyping 21211785 chrX 37622084 37744280 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37624571 38789203 LOH Normal High-resolution SNP genotyping 21211785 chrX 37624571 45348003 LOH Normal High-resolution SNP genotyping 21211785 chrX 37624571 49023506 LOH Normal High-resolution SNP genotyping 21211785 chrX 37660867 37660967 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 37739001 37743000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 37743001 38305000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 37745264 37790153 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 37753164 37797414 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 37764812 37836913 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37842728 39781219 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 37859385 37859705 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 37884819 37942896 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37923585 37923710 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37967575 38036826 Gain and loss Pancreatic cancer SNP array 17952125 chrX 37986452 37990321 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 38014751 38014851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38030220 38030320 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38034513 38065701 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 38094055 38094155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38096680 38165647 Copy number Autism exome sequencing 22495311 chrX 38139446 38139589 Loss Normal 244K array 17666407 chrX 38141645 38141745 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38142784 38143506 Loss Normal 244K array 17666407 chrX 38145151 38145231 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38148527 38149482 Loss Normal 244K array 17666407 chrX 38154569 38155024 Loss Normal 244K array 17666407 chrX 38176948 38304384 Gain and loss Pancreatic cancer SNP array 17952125 chrX 38223684 38223745 Gain and loss Pancreatic cancer SNP array 17952125 chrX 38223686 38223746 Gain and loss Pancreatic cancer SNP array 17952125 chrX 38241183 38241832 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 38250000 38420000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 382501 442000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 38262806 38349228 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 38264819 38278229 Copy number Alcoholism Illumina Human Hap689W-Quad BeadChip 21790672 chrX 38271449 38272273 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 38278147 38278247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38305001 38307000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 38305675 38433116 Copy number Autism exome sequencing 22495311 chrX 38307001 38547500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 38336142 38367325 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 38339682 38375193 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 38349228 45360699 LOH Normal High-resolution SNP genotyping 21211785 chrX 3837365 3837429 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3837443 3837500 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3837502 3837570 Gain and loss Pancreatic cancer SNP array 17952125 chrX 38376283 38513841 Duplication Oligozoospermia Array-CGH 20877625 chrX 38416925 38421914 Gain and loss Pancreatic cancer SNP array 17952125 chrX 38432916 38496221 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 38451004 38482237 Copy number Alcoholism Illumina Human Hap684W-Quad BeadChip 21790672 chrX 38468689 38475348 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 38468689 38475348 Deletion Non-syndromic sensorineural hearing loss Agilent24M 19587683 chrX 38469307 38473437 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 38480000 40480000 Loss Breast cancer aCGH 21509527 chrX 38496221 41179934 LOH Normal High-resolution SNP genotyping 21211785 chrX 38547501 38550000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 38550001 39019500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 38562213 38562313 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38660061 38660161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38676434 38676505 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38696650 38696755 Gain and loss Pancreatic cancer SNP array 17952125 chrX 38731857 38763161 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 38754177 40585083 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 3877362 16228524 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 38776038 38776138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38789203 38823283 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 38791729 38791813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38813003 38886316 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 38823283 39611790 LOH Normal High-resolution SNP genotyping 21211785 chrX 38823283 44782129 LOH Normal High-resolution SNP genotyping 21211785 chrX 3883110 4650423 Loss or gain Normal 244K array 17666407 chrX 38835038 38835138 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38851298 38851398 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38869379 38869479 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38880289 38880389 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 38886316 44782129 LOH Normal High-resolution SNP genotyping 21211785 chrX 38886316 48124935 LOH Normal High-resolution SNP genotyping 21211785 chrX 38955367 38955456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39013550 39013639 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39019501 39025000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39021583 39021651 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39025001 39194000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39038378 39038453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39087508 39087553 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39087553 39087653 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3911001 9208000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39115488 39115558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3918124 7686076 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 39194001 39499000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39256652 39264775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 39316201 39822200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39322259 39322359 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39334993 39335093 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 3933648 8401939 LOH Normal High-resolution SNP genotyping 21211785 chrX 3933648 8423258 LOH Normal High-resolution SNP genotyping 21211785 chrX 3933648 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 3933648 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 3937901 6873163 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 39402002 39402301 Gain and loss Pancreatic cancer SNP array 17952125 chrX 39429188 39529971 Loss Normal 244K array 17666407 chrX 39460426 39460516 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39479376 39479438 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39480920 39481389 Gain and loss Pancreatic cancer SNP array 17952125 chrX 39483113 39483205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39499001 39505000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39505001 39749000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39520865 39520988 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 39537160 39537260 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39589431 39627328 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 39611790 39638431 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 39627328 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 39627328 44449618 LOH Normal High-resolution SNP genotyping 21211785 chrX 39627328 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 39627328 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 39638094 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 39638431 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 39638431 45290856 LOH Normal High-resolution SNP genotyping 21211785 chrX 39638431 45297816 LOH Normal High-resolution SNP genotyping 21211785 chrX 39638431 45360699 LOH Normal High-resolution SNP genotyping 21211785 chrX 39638431 45397476 LOH Normal High-resolution SNP genotyping 21211785 chrX 39638431 48631533 LOH Normal High-resolution SNP genotyping 21211785 chrX 3965956 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 39666841 39712882 Gain and loss Pancreatic cancer SNP array 17952125 chrX 3967769 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 3967769 8459029 LOH Normal High-resolution SNP genotyping 21211785 chrX 39732851 40307822 Loss Normal 244K array 17666407 chrX 39749001 39759000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39759001 39806000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39768180 39768264 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 39795443 39841663 Copy number Autism exome sequencing 22495311 chrX 39806001 39854000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39822201 39923400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39854001 39889000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39889001 39902500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39900579 39900681 Gain and loss Pancreatic cancer SNP array 17952125 chrX 39902501 39912000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39912001 39921500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39921501 40308500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39923401 40986000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 39974666 39976209 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40070171 40114957 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 40108323 40108422 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40108327 40108419 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40150984 40151040 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40196391 40222125 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40239081 40239440 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40244539 40263031 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40258029 40258089 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 40263812 40351037 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40286442 40286509 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chrX 40306330 40306430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 40308501 40605500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 4032560 40350832 Copy number Autism exome sequencing 22495311 chrX 40346201 40346708 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 40390119 40390442 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 40449650 40452995 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40456326 40458212 Loss Autism 1M Ailent CGH whole-genome array 21865298 chrX 40471019 40504868 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 40478374 40509707 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 40490250 40496845 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 40506994 42773021 Loss Normal 244K array 17666407 chrX 40523494 40523898 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40550489 40551371 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40605501 40607000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 40607001 40828500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 40640537 40649373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 40648366 40648449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 40739077 40848433 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40818745 40852600 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 40828501 40831000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 40829831 40980776 Gain or loss Breast cancer - 20668451 chrX 40829831 40980776 Gain or loss Cancer - 20668451 chrX 40829831 40980776 Gain or loss Lung cancer - 20668451 chrX 40829831 40980776 Gain or loss Ovarian cancer - 20668451 chrX 40829831 40980776 Gain or loss Pancreas cancer - 20668451 chrX 40829831 40980776 Gain or loss Prostate cancer - 20668451 chrX 40831001 40993500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 40842986 40843384 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 40873327 40873417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 40904765 47240281 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 40908305 40908394 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40908305 40908423 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40931995 40932094 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40942564 40942628 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 40948905 40979978 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40961085 40961383 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40961090 40961383 Gain and loss Pancreatic cancer SNP array 17952125 chrX 40986001 41264300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 40993501 41253500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 41003357 41003456 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 41005795 41682060 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chrX 41062941 41091217 Gain and loss Pancreatic cancer SNP array 17952125 chrX 41134721 41538522 Gain and loss Pancreatic cancer SNP array 17952125 chrX 41151592 41151692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 41186430 41186536 Gain and loss Pancreatic cancer SNP array 17952125 chrX 41217457 44782129 LOH Normal High-resolution SNP genotyping 21211785 chrX 41220737 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 41227799 44782129 LOH Normal High-resolution SNP genotyping 21211785 chrX 41227799 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 41227799 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 41240133 41240228 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 41242851 44782129 LOH Normal High-resolution SNP genotyping 21211785 chrX 41253501 43021500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 41254060 44782129 LOH Normal High-resolution SNP genotyping 21211785 chrX 41259132 41667231 Copy number Breast cancer Univariate Analysis 17375183 chrX 41259132 41667231 Copy number Gastric cancer Human cDNA microarrays 17229543 chrX 41259133 41667231 Copy number Autism exome sequencing 22495311 chrX 41298675 41298973 Gain and loss Pancreatic cancer SNP array 17952125 chrX 41304494 41312773 Gain and loss Pancreatic cancer SNP array 17952125 chrX 41339688 41344571 Gain and loss Pancreatic cancer SNP array 17952125 chrX 41347738 41351818 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 41374190 41782287 Copy number Cerebellar hypoplasia FISH 21735175 chrX 41374190 41782287 Copy number Microcephaly FISH 21735175 chrX 41390109 41390209 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 41441499 41478503 Gain Autism qPCR 20531469 chrX 41524018 41524078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 41580000 44680000 Deletion Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 41730000 47070000 Loss Breast cancer aCGH 21509527 chrX 41754932 41755037 Gain and loss Pancreatic cancer SNP array 17952125 chrX 41780357 41846738 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 41789786 41789892 Gain and loss Pancreatic cancer SNP array 17952125 chrX 41846738 44212908 LOH Normal High-resolution SNP genotyping 21211785 chrX 41931693 41931793 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 41988785 41988885 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 42007226 42007326 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 42182187 42182287 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 42217575 42219274 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 42300000 47300000 Copy number Normal - 21701786 chrX 42300000 47300000 Loss Glioblastoma multiforme Illumina SNP arrays 22286061 chrX 42300000 54700000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 4237727 4250647 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 4237727 4250903 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 4238766 4250740 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 42392976 42393584 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4243775 4244930 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 4247280 4261342 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 42563677 42598225 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 42714429 42714529 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 42735304 42735383 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 42741665 42787414 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 42753054 43506298 LOH Normal High-resolution SNP genotyping 21211785 chrX 42759609 44100942 LOH Normal High-resolution SNP genotyping 21211785 chrX 42759609 44120728 LOH Normal High-resolution SNP genotyping 21211785 chrX 42812153 42812220 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 42893886 42895113 Gain and loss Pancreatic cancer SNP array 17952125 chrX 42895500 42895618 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 42942915 42943015 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 42944274 42944374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 4300000 9500000 Copy number Normal - 21701786 chrX 43021501 43024000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 43024001 43399000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 43046950 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 43100982 43101082 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43114777 43147911 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 4314145 4314245 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43271663 43362321 Gain and loss Pancreatic cancer SNP array 17952125 chrX 43367053 43367153 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43382112 43497935 Gain and loss Pancreatic cancer SNP array 17952125 chrX 43399001 43400500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 43399173 43399253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43400352 43491012 Copy number Gastric cancer Human cDNA microarrays 17229543 chrX 43400353 43491012 Copy number Autism exome sequencing 22495311 chrX 43400501 44378000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 43418705 43418779 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43496106 44097441 LOH Normal High-resolution SNP genotyping 21211785 chrX 43554138 43554459 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 43564280 43589004 Gain and loss Pancreatic cancer SNP array 17952125 chrX 43604423 43604523 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43644884 43646421 Gain and loss Pancreatic cancer SNP array 17952125 chrX 43692968 43717788 Copy number Autism exome sequencing 22495311 chrX 43702842 43724851 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 43724851 45367599 LOH Normal High-resolution SNP genotyping 21211785 chrX 43736525 43742431 Loss Normal 244K array 17666407 chrX 43749528 43749657 Loss Normal 244K array 17666407 chrX 43764167 43959172 Gain and loss Pancreatic cancer SNP array 17952125 chrX 43796625 43796725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43899567 43901746 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4389959 4390010 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chrX 43919045 43919130 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43924814 43925976 Gain and loss Pancreatic cancer SNP array 17952125 chrX 43931396 43931496 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 43939187 43940173 Gain Normal 244K array 17666407 chrX 44015753 44061044 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 44017103 44017201 Gain and loss Pancreatic cancer SNP array 17952125 chrX 44017103 44017202 Gain and loss Pancreatic cancer SNP array 17952125 chrX 44067590 44084085 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrX 44102317 44102417 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 44139157 44158470 Gain and loss Pancreatic cancer SNP array 17952125 chrX 441994 462768 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 442001 463000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44212908 44273421 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 44212908 46950530 LOH Normal High-resolution SNP genotyping 21211785 chrX 44212908 48049664 LOH Normal High-resolution SNP genotyping 21211785 chrX 44212908 48124935 LOH Normal High-resolution SNP genotyping 21211785 chrX 44212908 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 44212908 49013483 LOH Normal High-resolution SNP genotyping 21211785 chrX 44212908 49019677 LOH Normal High-resolution SNP genotyping 21211785 chrX 44212908 49023506 LOH Normal High-resolution SNP genotyping 21211785 chrX 44212908 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 44212908 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 44224401 44629200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44232552 44232652 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 44267848 44287160 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 44270132 44270223 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 44272739 44301397 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 44273421 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 44348147 44375393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 44356623 44357464 Gain and loss Pancreatic cancer SNP array 17952125 chrX 44375876 44375976 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 44378001 44379500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44379501 44616500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44388273 44388562 Gain and loss Pancreatic cancer SNP array 17952125 chrX 44398839 44438147 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 44398839 44455706 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 4441124 4475569 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 44449618 44510938 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 44459503 44460386 Gain and loss Pancreatic cancer SNP array 17952125 chrX 44473300 44473400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 44489035 44800052 Gain and loss Pancreatic cancer SNP array 17952125 chrX 44497699 44526466 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 44510938 45397476 LOH Normal High-resolution SNP genotyping 21211785 chrX 44588193 44589078 Amplification Mental retardation qPCR 20877625 chrX 44616501 44618500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44616996 44617096 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 44618501 44892000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44620311 44620411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 44629201 46779700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44764909 44765181 Gain and loss Pancreatic cancer SNP array 17952125 chrX 44765399 44816400 Gain and loss Pancreatic cancer SNP array 17952125 chrX 44782129 44890499 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 44833240 44833318 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 44890499 46991533 LOH Normal High-resolution SNP genotyping 21211785 chrX 44890499 47521570 LOH Normal High-resolution SNP genotyping 21211785 chrX 44890499 48124935 LOH Normal High-resolution SNP genotyping 21211785 chrX 44890499 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 44890499 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 44892001 44902500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44902501 44972500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44918883 44947198 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 4492766 5343179 Copy number Alcoholism Illumina Human Hap714W-Quad BeadChip 21790672 chrX 44947198 46991533 LOH Normal High-resolution SNP genotyping 21211785 chrX 44972501 44974500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44974501 46318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 44997663 44997729 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 45008750 45008850 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 4521443 4521543 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 45247789 45249298 Gain and loss Pancreatic cancer SNP array 17952125 chrX 45290856 45405358 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 45297816 45409358 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 45310209 45413167 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 45342630 45342698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 45348003 45421984 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 45360699 45430911 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 45361839 45361948 Gain and loss Pancreatic cancer SNP array 17952125 chrX 45362675 45362784 Gain and loss Pancreatic cancer SNP array 17952125 chrX 45367599 45436211 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 4536899 4537146 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chrX 45377376 45377464 Gain and loss Pancreatic cancer SNP array 17952125 chrX 45397476 45437795 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 45405358 46950530 LOH Normal High-resolution SNP genotyping 21211785 chrX 45409358 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 45413167 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 45421984 47994307 LOH Normal High-resolution SNP genotyping 21211785 chrX 45421984 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 45430911 48049664 LOH Normal High-resolution SNP genotyping 21211785 chrX 45430911 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 45434620 45434720 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 45436211 47994307 LOH Normal High-resolution SNP genotyping 21211785 chrX 45437795 46950530 LOH Normal High-resolution SNP genotyping 21211785 chrX 45437795 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 45472504 45472810 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 45481033 45500373 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 45490529 45490638 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 45491365 45491474 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 45508601 45508669 Gain and loss Pancreatic cancer SNP array 17952125 chrX 45528807 45529533 Gain and loss Pancreatic cancer SNP array 17952125 chrX 45553303 45553335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 45612358 45612444 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 45674441 45674771 Gain and loss Pancreatic cancer SNP array 17952125 chrX 45734520 45734620 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 45752722 45872338 Loss Acute myeloid leukemia Affymetrix Genome-Wide Human SNP 6.0 Array GeneChip microarrays 19651600 chrX 45915913 45916122 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 46062986 46090277 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46070678 46145357 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46133446 46133557 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46133466 46133557 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46161182 46163922 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46189446 46214087 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46203719 47229186 Gain Bladder cancer array-CGH 21909424 chrX 46217060 46249981 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 46222627 46374726 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46240765 46240983 Deletion Medulloblastoma Illumina SNP arrays 21163964 chrX 46243490 46289820 Copy number Autism exome sequencing 22495311 chrX 46255974 46292959 Gain Autism qPCR, Illumina1M 20531469 chrX 46262283 46263019 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46264239 46309250 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 463001 494000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 46317980 46319778 Copy number Alcoholism Illumina Human Hap720W-Quad BeadChip 21790672 chrX 46318001 46320000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 46320001 46843500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 46357298 47260964 LOH Normal High-resolution SNP genotyping 21211785 chrX 46452629 46498047 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4650623 4659953 Loss Normal 244K array 17666407 chrX 46528122 46676894 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46679471 46680555 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 46694226 46708966 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46703159 46703265 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46703690 54174129 Duplication Mental retardation Genomewide OligonucleotideArray CGH 44K 17621639 chrX 46748324 46748479 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46748325 46748479 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46757869 46760863 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46760903 46802465 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46772336 46772874 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46779701 47412200 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 46783304 46791631 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 46806514 46830780 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46820578 46821503 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46833884 46845646 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46843501 46888500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 46848568 46863981 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4686429 4686517 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 46888501 46892000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 46889574 46931156 Gain or loss Breast cancer - 20668451 chrX 46889574 46931156 Gain or loss Cancer - 20668451 chrX 46889574 46931156 Gain or loss Lung cancer - 20668451 chrX 46889574 46931156 Gain or loss Ovarian cancer - 20668451 chrX 46889574 46931156 Gain or loss Pancreas cancer - 20668451 chrX 46889574 46931156 Gain or loss Prostate cancer - 20668451 chrX 46892001 46994000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 46894780 46894881 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46935142 46959471 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 46950530 47044267 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 46967500 46967602 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46967517 46967602 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46978107 46978159 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 46983412 46992671 Gain or loss Breast cancer - 20668451 chrX 46983412 46992671 Gain or loss Cancer - 20668451 chrX 46983412 46992671 Gain or loss Lung cancer - 20668451 chrX 46983412 46992671 Gain or loss Ovarian cancer - 20668451 chrX 46983412 46992671 Gain or loss Pancreas cancer - 20668451 chrX 46983412 46992671 Gain or loss Prostate cancer - 20668451 chrX 46986236 47029566 Gain and loss Pancreatic cancer SNP array 17952125 chrX 46991533 47044267 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 46994001 47065500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47029606 47091495 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 47044267 47918972 LOH Normal High-resolution SNP genotyping 21211785 chrX 47044267 47994307 LOH Normal High-resolution SNP genotyping 21211785 chrX 47044267 48049664 LOH Normal High-resolution SNP genotyping 21211785 chrX 47044267 48134404 LOH Normal High-resolution SNP genotyping 21211785 chrX 47062662 47098599 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47062721 47062813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 47065501 47067500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47067501 47305000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47068800 47069216 Deletion Non-syndromic sensorineural hearing loss Pindel_LUMC_WTSI 21293372 chrX 47076165 47076256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 47091262 47091433 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47091315 47091433 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47091495 48077034 LOH Normal High-resolution SNP genotyping 21211785 chrX 47099224 47100461 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47114942 47158042 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 47128255 47129136 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47176761 47187553 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47187558 47235511 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47190504 47227289 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 47190505 47227289 Copy number Autism exome sequencing 22495311 chrX 47197966 47202441 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47216035 47218450 Deletion Medulloblastoma Illumina SNP arrays 21163964 chrX 47225981 47309372 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 47239885 47245958 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47251174 47266274 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4726018 4726071 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 47267450 47274814 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47300000 49700000 Copy number Breast cancer - 16900295 chrX 47300000 49700000 Copy number Normal - 21701786 chrX 47300000 49700000 Deletion Developmental delay Array-based comparative genomic hybridization 18414209 chrX 47300000 49700000 Deletion Mental retardation Array-based comparative genomic hybridization 18414209 chrX 47300000 49700000 Gain Breast cancer aCGH 21045282 chrX 47300000 49700000 Loss Mental retardation Genepix 4000B scanner 17333282 chrX 47300000 49700000 Microdeletions focal dermal hypoplasia HR-CGH 19309688 chrX 47303727 47336505 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 47305001 47335000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47305521 47316264 Gain or loss Breast cancer - 20668451 chrX 47305521 47316264 Gain or loss Cancer - 20668451 chrX 47305521 47316264 Gain or loss Lung cancer - 20668451 chrX 47305521 47316264 Gain or loss Ovarian cancer - 20668451 chrX 47305521 47316264 Gain or loss Pancreas cancer - 20668451 chrX 47305521 47316264 Gain or loss Prostate cancer - 20668451 chrX 47309372 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 47316243 47364200 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 47316244 47364200 Copy number Autism exome sequencing 22495311 chrX 47334379 47954036 LOH Normal High-resolution SNP genotyping 21211785 chrX 47334379 47985439 LOH Normal High-resolution SNP genotyping 21211785 chrX 47335001 47363500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47339256 47341585 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47339453 47373340 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 47348899 48218129 LOH Normal High-resolution SNP genotyping 21211785 chrX 47354001 47368200 Deletion Glioma mate-paired sequence 20126413 chrX 47359734 47370081 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 47363501 47396500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47363682 51330775 LOH Normal High-resolution SNP genotyping 21211785 chrX 47396138 47403504 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 47396501 47550500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47400714 48007377 LOH Normal High-resolution SNP genotyping 21211785 chrX 47400714 48933727 LOH Normal High-resolution SNP genotyping 21211785 chrX 47412201 47842300 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47413579 47420442 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47434151 47434230 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 47447740 47447840 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 47456616 47457186 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47461921 47532285 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47496683 47496715 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 47505693 47506056 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47523164 47806532 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 47523164 47902964 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 47523164 47902964 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 47541565 47541800 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 47549942 48634042 LOH Normal High-resolution SNP genotyping 21211785 chrX 47550501 47552500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47552501 47580500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47580501 47581500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47581245 47666554 Copy number Autism exome sequencing 22495311 chrX 47581501 47700000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47583783 47583872 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 47583946 47749550 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 47591949 47592116 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47606948 48104013 Copy number Alcoholism Illumina Human Hap716W-Quad BeadChip 21790672 chrX 47619027 48898479 Loss or gain Normal 244K array 17666407 chrX 47619988 47625380 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47621793 47783872 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 4762612 4762712 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 47628645 48269763 LOH Normal High-resolution SNP genotyping 21211785 chrX 47636184 47670154 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 47640000 47850000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 47654336 50073488 LOH Normal High-resolution SNP genotyping 21211785 chrX 47673858 47676578 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47685432 47685532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 47697390 47697492 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47700001 47704000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47704001 47772000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47723342 47736323 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47728809 47762004 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 47742857 47748249 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47745540 47865818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 47756214 47855996 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 47756214 47863935 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 47756214 47865818 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 47765101 47865818 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 47769552 47862396 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 47769552 47862396 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 47769662 47769756 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47769677 47769756 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47772001 47775500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47775501 48199000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47801910 47812453 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47802510 47815739 Amplification Mental retardation qPCR 20877625 chrX 47821947 47822037 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47828480 47830331 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47842301 49031400 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 47862396 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 47862396 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 47871051 47883133 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47892410 47893267 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47918972 48077034 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 47918972 48077034 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 47962117 47972396 Gain and loss Pancreatic cancer SNP array 17952125 chrX 47979904 50160514 LOH Normal High-resolution SNP genotyping 21211785 chrX 47994307 48157243 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 47999740 48011823 Gain or loss Breast cancer - 20668451 chrX 47999740 48011823 Gain or loss Cancer - 20668451 chrX 47999740 48011823 Gain or loss Lung cancer - 20668451 chrX 47999740 48011823 Gain or loss Ovarian cancer - 20668451 chrX 47999740 48011823 Gain or loss Pancreas cancer - 20668451 chrX 47999740 48011823 Gain or loss Prostate cancer - 20668451 chrX 48012545 48012706 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 48017778 48027598 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48073182 48084819 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48077034 49013483 LOH Normal High-resolution SNP genotyping 21211785 chrX 48077034 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 48090803 48101006 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48123625 48135456 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48127911 48137729 Gain or loss Breast cancer - 20668451 chrX 48127911 48137729 Gain or loss Cancer - 20668451 chrX 48127911 48137729 Gain or loss Lung cancer - 20668451 chrX 48127911 48137729 Gain or loss Ovarian cancer - 20668451 chrX 48127911 48137729 Gain or loss Pancreas cancer - 20668451 chrX 48127911 48137729 Gain or loss Prostate cancer - 20668451 chrX 4812956 4842826 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48136487 48143356 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48154384 48175854 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48157243 49013483 LOH Normal High-resolution SNP genotyping 21211785 chrX 48157243 57782088 LOH Normal High-resolution SNP genotyping 21211785 chrX 4816724 4828781 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 4817553 4829738 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48176767 48176884 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48189126 48192925 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48191779 48952914 LOH Normal High-resolution SNP genotyping 21211785 chrX 48191779 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 48191779 49013483 LOH Normal High-resolution SNP genotyping 21211785 chrX 48191779 49023506 LOH Normal High-resolution SNP genotyping 21211785 chrX 48191779 54859437 LOH Normal High-resolution SNP genotyping 21211785 chrX 48191779 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 48191779 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 48195966 52918679 LOH Normal High-resolution SNP genotyping 21211785 chrX 48199001 48266500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48201870 48213588 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 48203777 48219835 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48203986 49001645 LOH Normal High-resolution SNP genotyping 21211785 chrX 48203986 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 48203986 49013483 LOH Normal High-resolution SNP genotyping 21211785 chrX 48203986 49019677 LOH Normal High-resolution SNP genotyping 21211785 chrX 48203986 57782088 LOH Normal High-resolution SNP genotyping 21211785 chrX 48203986 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 48208031 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 48208031 49019677 LOH Normal High-resolution SNP genotyping 21211785 chrX 48208031 49023506 LOH Normal High-resolution SNP genotyping 21211785 chrX 48208031 54858322 LOH Normal High-resolution SNP genotyping 21211785 chrX 48208031 57766636 LOH Normal High-resolution SNP genotyping 21211785 chrX 48208031 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 48212290 57810252 Loss Breast cancer Affymetrix U133-Plus2.0 chips, BAC-array 21785460 chrX 48219493 48229696 Copy number Autism exome sequencing 22495311 chrX 4822056 4829402 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 4822449 4825998 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48233925 50160514 LOH Normal High-resolution SNP genotyping 21211785 chrX 4824707 4832775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48252315 48264146 Copy number Autism exome sequencing 22495311 chrX 48266501 48302500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48283018 48305941 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 48298459 48306065 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48302501 48304500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48304501 48340500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48311381 48323651 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48317779 48321748 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 48339103 48339212 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48340501 48345500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48345501 48438500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48346820 48424290 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 48369694 48369767 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 4837276 4837376 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 48380491 48388099 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48385449 48387873 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 48391628 48391733 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48391628 48391734 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48392936 48424803 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48401210 48408964 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48416711 48439640 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48420745 53340483 LOH Normal High-resolution SNP genotyping 21211785 chrX 48424290 54856492 LOH Normal High-resolution SNP genotyping 21211785 chrX 48427129 48434761 Gain or loss Breast cancer - 20668451 chrX 48427129 48434761 Gain or loss Cancer - 20668451 chrX 48427129 48434761 Gain or loss Lung cancer - 20668451 chrX 48427129 48434761 Gain or loss Ovarian cancer - 20668451 chrX 48427129 48434761 Gain or loss Pancreas cancer - 20668451 chrX 48427129 48434761 Gain or loss Prostate cancer - 20668451 chrX 48438501 48453500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48443532 48444797 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48445756 48450209 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48453501 48534500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48506980 48511674 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48511462 48516661 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48516707 48525165 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48519114 48551358 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48526711 48532532 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48529925 48537661 Gain or loss Breast cancer - 20668451 chrX 48529925 48537661 Gain or loss Cancer - 20668451 chrX 48529925 48537661 Gain or loss Lung cancer - 20668451 chrX 48529925 48537661 Gain or loss Ovarian cancer - 20668451 chrX 48529925 48537661 Gain or loss Pancreas cancer - 20668451 chrX 48529925 48537661 Gain or loss Prostate cancer - 20668451 chrX 48534501 48557000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48535736 48571141 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48553511 48554327 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48557001 48576000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48572226 48573492 Copy number Lung cancer - 20668451 chrX 48572226 48573492 Gain or loss Breast cancer - 20668451 chrX 48572226 48573492 Gain or loss Cancer - 20668451 chrX 48572226 48573492 Gain or loss Lung cancer - 20668451 chrX 48572226 48573492 Gain or loss Ovarian cancer - 20668451 chrX 48572226 48573492 Gain or loss Pancreas cancer - 20668451 chrX 48572226 48573492 Gain or loss Prostate cancer - 20668451 chrX 48574449 48578904 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 48574748 48636700 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 48574887 48584499 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48576001 48634000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48586382 48614923 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48587752 48587852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 48628716 48645323 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 48631533 48645870 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 48634001 48666500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48634042 48647071 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 48640139 48645364 Copy number Autism exome sequencing 22495311 chrX 48642490 48657239 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48645323 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 48645870 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 48645870 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 48647071 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 48655402 48661228 Copy number Lung cancer - 20668451 chrX 48655402 48661228 Gain or loss Breast cancer - 20668451 chrX 48655402 48661228 Gain or loss Cancer - 20668451 chrX 48655402 48661228 Gain or loss Lung cancer - 20668451 chrX 48655402 48661228 Gain or loss Ovarian cancer - 20668451 chrX 48655402 48661228 Gain or loss Pancreas cancer - 20668451 chrX 48655402 48661228 Gain or loss Prostate cancer - 20668451 chrX 48664427 48699837 Gain or loss Breast cancer - 20668451 chrX 48664427 48699837 Gain or loss Cancer - 20668451 chrX 48664427 48699837 Gain or loss Lung cancer - 20668451 chrX 48664427 48699837 Gain or loss Ovarian cancer - 20668451 chrX 48664427 48699837 Gain or loss Pancreas cancer - 20668451 chrX 48664427 48699837 Gain or loss Prostate cancer - 20668451 chrX 48664427 48699837 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 48666501 48803000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48672765 48683758 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48685067 48687911 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48688549 48714308 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48695935 48696071 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48695936 48696074 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48726595 48736328 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48765358 48765651 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48771185 48787934 Gain or loss Breast cancer - 20668451 chrX 48771185 48787934 Gain or loss Cancer - 20668451 chrX 48771185 48787934 Gain or loss Lung cancer - 20668451 chrX 48771185 48787934 Gain or loss Ovarian cancer - 20668451 chrX 48771185 48787934 Gain or loss Pancreas cancer - 20668451 chrX 48771185 48787934 Gain or loss Prostate cancer - 20668451 chrX 48776614 48781177 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48784644 48787801 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48788274 48799193 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48792080 48792180 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 48795992 48796092 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 48800640 48813032 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48803001 48826500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48813689 48813804 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 48817894 48846204 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48826501 48844500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48840152 48875518 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48844501 48846000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48846001 48899000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48846747 48847331 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48848351 48863356 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48863781 48877659 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48882852 48900351 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48899001 48901000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48901001 48990000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 48901102 48901181 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 48921979 48922063 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 48931135 48940104 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48931209 48943605 Copy number Autism exome sequencing 22495311 chrX 48933670 48939278 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48934921 49055115 Gain and loss Pancreatic cancer SNP array 17952125 chrX 48935279 48936880 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48938388 48939585 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48938889 48940462 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48939748 48940690 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48941328 48943075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48942226 48946164 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48942424 48943279 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 48948467 48976777 Copy number Autism exome sequencing 22495311 chrX 48990001 49005000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49000035 49035928 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49004847 49058212 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 49005001 49048000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49030760 49129879 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chrX 49031401 54622700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49042963 49043016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 49048001 49377500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49048848 49078206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49049434 49072916 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49049663 49071123 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49057343 49073949 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49058041 49059162 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49058212 51361142 LOH Normal High-resolution SNP genotyping 21211785 chrX 49058212 52350132 LOH Normal High-resolution SNP genotyping 21211785 chrX 49058212 54854433 LOH Normal High-resolution SNP genotyping 21211785 chrX 49058212 55056409 LOH Normal High-resolution SNP genotyping 21211785 chrX 49058212 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 49058212 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 49058420 49075611 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49060021 49129879 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chrX 49060645 52680086 LOH Normal High-resolution SNP genotyping 21211785 chrX 49060645 54592411 LOH Normal High-resolution SNP genotyping 21211785 chrX 49060645 55057410 LOH Normal High-resolution SNP genotyping 21211785 chrX 49060645 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 49061091 52680086 LOH Normal High-resolution SNP genotyping 21211785 chrX 49061091 54859437 LOH Normal High-resolution SNP genotyping 21211785 chrX 49061091 55057410 LOH Normal High-resolution SNP genotyping 21211785 chrX 49061091 57766636 LOH Normal High-resolution SNP genotyping 21211785 chrX 49061091 57767627 LOH Normal High-resolution SNP genotyping 21211785 chrX 49061091 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 49063739 49075817 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49070873 49080528 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49100355 49101249 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4914708 4915022 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 49155306 49163591 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49155991 49185460 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49157998 52680086 LOH Normal High-resolution SNP genotyping 21211785 chrX 49157998 53239102 LOH Normal High-resolution SNP genotyping 21211785 chrX 49157998 54856492 LOH Normal High-resolution SNP genotyping 21211785 chrX 49157998 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 49180859 49256599 Copy number Non-syndromic sensorineural hearing loss Agilent 105K array 19812545 chrX 49250000 52510000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 49250001 58250002 Loss Ovarian cancer QPCR 19835627 chrX 49256972 57766636 LOH Normal High-resolution SNP genotyping 21211785 chrX 49296940 49301604 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49346241 49379982 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49347687 49349263 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49353104 49370273 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49375025 50129047 LOH Normal High-resolution SNP genotyping 21211785 chrX 49377501 49379500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49379501 49529000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49386297 49463896 Loss Normal 244K array 17666407 chrX 49390261 49560557 Gain and loss Pancreatic cancer SNP array 17952125 chrX 494001 562000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49412988 49413089 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49412998 49413089 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49470790 49470880 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49471145 49471230 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4947217 4947284 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49476075 49476158 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49476608 49476672 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49477366 49477449 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49482243 49482326 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4948430 4948496 Gain and loss Pancreatic cancer SNP array 17952125 chrX 4948499 4948567 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49515456 49515488 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 49529001 49530500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49530501 50229000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 49553953 49554042 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 49611537 49641977 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 49617920 49620307 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 49617928 49620315 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 49638879 49638977 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49638881 49638977 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49658442 49668700 Gain and loss Pancreatic cancer SNP array 17952125 chrX 49659688 51361250 LOH Normal - 20944671 chrX 49672951 49673026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 49698256 49698337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 49700000 54700000 Copy number Breast cancer - 16900295 chrX 49700000 54700000 Copy number Normal - 21701786 chrX 49700000 54700000 Deletion or duplication Mental retardation References 21956041 chrX 49700000 54700000 Duplication Poland's syndrome Agilent Human Genome CGH Microarray Kit45B 22110015 chrX 49700000 56600000 Gain Glioblastoma multiforme Illumina SNP arrays 22286061 chrX 49727305 49727305 Copy number Prostate cancer Illumina GA II sequencer 21307934 chrX 49768047 49768132 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 49778469 49778549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 49842150 49852404 Microdeletion infertile References 22138898 chrX 49845002 49845102 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 49860572 49927945 Gain and loss Pancreatic cancer SNP array 17952125 chrX 50088376 50088476 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 50123722 52125851 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 50161592 50161692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 50167698 50390080 Gain and loss Pancreatic cancer SNP array 17952125 chrX 50225675 50225776 Gain and loss Pancreatic cancer SNP array 17952125 chrX 50229001 50231000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 50230119 53215985 LOH Normal High-resolution SNP genotyping 21211785 chrX 50231001 51166000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 50252724 50252824 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 50351387 50573784 Copy number Autism exome sequencing 22495311 chrX 50481471 50481878 Gain and loss Pancreatic cancer SNP array 17952125 chrX 50486820 50492643 Gain and loss Pancreatic cancer SNP array 17952125 chrX 50542321 50582061 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 50629083 56777317 LOH Normal High-resolution SNP genotyping 21211785 chrX 5063401 5069300 Deletion Glioma mate-paired sequence 20126413 chrX 5065344 5067499 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 50658762 50664852 Gain and loss Pancreatic cancer SNP array 17952125 chrX 50712015 53897395 LOH Normal High-resolution SNP genotyping 21211785 chrX 50795271 50795363 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 50800494 50800579 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 5083494 5084735 Gain and loss Pancreatic cancer SNP array 17952125 chrX 50882209 50882309 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 50890548 50891234 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 50908854 50909348 Gain and loss Pancreatic cancer SNP array 17952125 chrX 50982803 50984723 Gain and loss Pancreatic cancer SNP array 17952125 chrX 5100208 5100354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 51071838 51072332 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51102050 53061124 LOH Normal High-resolution SNP genotyping 21211785 chrX 51102050 54851165 LOH Normal High-resolution SNP genotyping 21211785 chrX 51139148 51139219 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51141234 51141334 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 51166001 51168000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 51168001 51205500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 51193979 51194761 Gain and loss Pancreatic cancer SNP array 17952125 chrX 5120206 5120281 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 51205501 51207000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 51207001 51652000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 51286644 51287426 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51319563 51322065 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51361142 51505058 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 51362102 51362202 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 51382423 51427103 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 51446849 51446941 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51469760 51478484 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51505058 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 51599696 51599796 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 51626992 51630387 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51637959 51645404 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51652001 51657000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 51657001 52100500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 51693661 51693761 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 51760955 51768400 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51775999 51779394 Gain and loss Pancreatic cancer SNP array 17952125 chrX 518083 615606 Copy number Autism exome sequencing 22495311 chrX 5187899 5188021 Gain and loss Pancreatic cancer SNP array 17952125 chrX 5187899 5188028 Gain and loss Pancreatic cancer SNP array 17952125 chrX 51886216 53431897 LOH Normal High-resolution SNP genotyping 21211785 chrX 51886216 53803728 LOH Normal High-resolution SNP genotyping 21211785 chrX 51886216 55264041 LOH Normal High-resolution SNP genotyping 21211785 chrX 51945089 51962290 Gain and loss Pancreatic cancer SNP array 17952125 chrX 5195649 7892124 Loss Mental retardation Affymetrix GeneChip Human Mapping 262K NspI 20486941 chrX 52043205 55264041 LOH Normal High-resolution SNP genotyping 21211785 chrX 52100501 53035000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 52125851 52633433 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 52202917 52220117 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52249031 52283521 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 52350132 52841897 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 52394946 52399923 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52500000 52610000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 52518634 52523829 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52535199 52546019 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52556132 52619270 Gain and loss Pancreatic cancer SNP array 17952125 chrX 5256225 5256296 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52577302 52577392 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52657689 52978139 Duplication Oligozoospermia Array-CGH 20877625 chrX 52663230 52702371 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52680086 52841897 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 52724249 52730343 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52730000 53440000 Loss Breast cancer aCGH 21509527 chrX 52736337 52740212 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52745284 52745970 Gain and loss Pancreatic cancer SNP array 17952125 chrX 5275790 5275858 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52774581 52780140 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52775986 52782545 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chrX 52809360 52820604 Gain and loss Pancreatic cancer SNP array 17952125 chrX 5282177 5282287 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 52841897 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 52841897 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 52842080 52909890 Duplication Oligozoospermia Array-CGH 20877625 chrX 52859487 52907664 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52904509 52906765 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 52908282 52913824 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 52918679 53247005 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 52961527 52990263 Gain and loss Pancreatic cancer SNP array 17952125 chrX 52978011 52978332 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 52979681 53016133 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chrX 52994574 53000742 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53035001 53047000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53042685 53042745 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53047001 53095000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53095001 53097500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53097501 53278500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53104474 53137625 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53117442 53117520 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 53133305 54750918 LOH Normal High-resolution SNP genotyping 21211785 chrX 53146406 53233543 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53175010 54715799 LOH Normal High-resolution SNP genotyping 21211785 chrX 53175010 54784166 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 53215985 53272086 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 53236788 53236898 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53237378 53271329 Copy number Autism exome sequencing 22495311 chrX 53239102 53273715 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 53243940 53276053 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 53247005 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 53267322 53335957 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 53267606 53278786 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 53272086 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 53272086 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 53273715 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 53273715 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 53278501 53282500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53278783 53367247 Copy number Autism exome sequencing 22495311 chrX 53282501 53549500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53284091 53332639 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53308943 53309007 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 533098 5375797 Copy number Autism exome sequencing 22495311 chrX 53322515 53356474 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 53325503 53327218 Gain Autism 1M Ailent CGH whole-genome array 21865298 chrX 53327677 54627422 LOH Normal High-resolution SNP genotyping 21211785 chrX 53332860 53341076 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53340314 53340369 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 53341231 53344341 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53372172 53372266 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53372172 53372272 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53417794 53466343 Copy number Gastric cancer Human cDNA microarrays 17229543 chrX 53417794 53466343 Deletion Mental retardation PCR 20877625 chrX 53417795 53466343 Copy number Autism exome sequencing 22495311 chrX 53442773 53510218 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53466224 53466303 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53467174 53467256 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53475704 54578960 Gain Bladder cancer array-CGH 21909424 chrX 53537825 53596694 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53549501 53801000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53556960 53601753 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 53557074 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 53590132 53590232 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 53599909 53600027 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 53600878 53600960 Deletion Acute myeloid leukemia BAC aCGH 20962326 chrX 53644396 53665800 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 537431 5378048 Copy number Autism exome sequencing 22495311 chrX 5377193 5377288 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 53799941 53805115 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chrX 53801001 53805000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53805001 53856000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53818509 53818616 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53818509 53818618 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53821491 53826539 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 53846136 53954417 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53856001 53857500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53857501 54487500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 53874650 54465853 LOH Normal High-resolution SNP genotyping 21211785 chrX 53922926 54750918 LOH Normal High-resolution SNP genotyping 21211785 chrX 53926094 55170114 LOH Normal High-resolution SNP genotyping 21211785 chrX 53953901 56861154 LOH Normal High-resolution SNP genotyping 21211785 chrX 53965885 53965985 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 53974330 53974420 Gain and loss Pancreatic cancer SNP array 17952125 chrX 53979837 54088121 Deletion Mental retardation PCR 20877625 chrX 53979838 54087036 Copy number Autism exome sequencing 22495311 chrX 53981606 54092712 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54070248 54070316 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 54105876 54267459 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54119680 54119780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 54253000 54253106 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54255862 54255962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 5428498 5586221 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 54340832 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 54349874 54354749 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54354910 54405620 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54378443 54489708 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 54439665 54470525 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54487501 54528500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54488612 54539324 Copy number Autism exome sequencing 22495311 chrX 54520713 54520813 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 54528501 54800000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54573368 54608698 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 54581730 54582092 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54592411 54659848 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 54658637 54707694 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54659848 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 54700000 56600000 Copy number Normal - 21701786 chrX 54700000 56600000 Duplication Mental retardation aCGH 21735175 chrX 54717201 54725461 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54784166 56181609 LOH Normal High-resolution SNP genotyping 21211785 chrX 54784166 56767690 LOH Normal High-resolution SNP genotyping 21211785 chrX 54787964 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 54800001 54802500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54802501 54863500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54828541 56767690 LOH Normal High-resolution SNP genotyping 21211785 chrX 54830265 54840883 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54836250 54875880 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 54842611 54903532 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54854433 54884784 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 54856492 54886534 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 54858322 54896625 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 54859437 54912018 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 54863501 54868000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54863537 54908338 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 54868001 54871750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54871751 54881500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54875880 57719679 LOH Normal High-resolution SNP genotyping 21211785 chrX 54881501 54883500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54883501 54885000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54884784 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 54885001 54972000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54886534 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 54886534 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 54896625 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 54896625 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 54909801 54917232 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54912018 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 54918513 54940432 Gain and loss Pancreatic cancer SNP array 17952125 chrX 54942105 54942155 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 54972001 54974000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54974001 54976500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54976501 54979500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54979501 56109000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 54990924 54991024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 54998518 55002281 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55006852 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55017531 55017594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 55021585 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55043504 55050937 Gain or loss Breast cancer - 20668451 chrX 55043504 55050937 Gain or loss Cancer - 20668451 chrX 55043504 55050937 Gain or loss Lung cancer - 20668451 chrX 55043504 55050937 Gain or loss Ovarian cancer - 20668451 chrX 55043504 55050937 Gain or loss Pancreas cancer - 20668451 chrX 55043504 55050937 Gain or loss Prostate cancer - 20668451 chrX 55052556 55070630 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55056409 55118290 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 55057410 55119818 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 55064549 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55082718 55085482 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55083163 55083227 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 55088207 55088272 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55088272 55088338 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55088369 55088441 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55088443 55088511 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55088521 55088581 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55089618 55089685 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55089687 55089758 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55089756 55089823 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55090776 55090850 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55092389 55092457 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55093127 55093390 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55093410 55093480 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55113260 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55118290 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55119818 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55129809 55133554 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55228416 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55238501 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55255375 55255437 Deletion Non-syndromic sensorineural hearing loss Yale-SR 21293372 chrX 55255679 55255742 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 55305037 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 55345482 55601872 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 55361559 55363019 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55396258 55398393 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55430305 55430405 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 55466157 55500209 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 55492187 55492286 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55492187 55492287 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55495262 55496724 Deletion Mental retardation PCR 20877625 chrX 55529686 55532356 Gain or loss Breast cancer - 20668451 chrX 55529686 55532356 Gain or loss Cancer - 20668451 chrX 55529686 55532356 Gain or loss Lung cancer - 20668451 chrX 55529686 55532356 Gain or loss Ovarian cancer - 20668451 chrX 55529686 55532356 Gain or loss Pancreas cancer - 20668451 chrX 55529686 55532356 Gain or loss Prostate cancer - 20668451 chrX 55532854 55534778 Gain and loss Pancreatic cancer SNP array 17952125 chrX 5554512 5554567 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 55564175 55566419 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55578565 55599942 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 55585005 55585158 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 55597735 55614377 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 55627193 55668227 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55719105 55726531 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 55719150 55723443 Copy number Alcoholism Illumina Human Hap690W-Quad BeadChip 21790672 chrX 55719372 55724269 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 55719384 55724281 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 5580337 5580680 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 55841244 55872619 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 55870748 55871323 Gain and loss Pancreatic cancer SNP array 17952125 chrX 55983778 55985035 Gain and loss Pancreatic cancer SNP array 17952125 chrX 56024084 56024194 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 560682 560931 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 56109001 56113000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56113001 56361000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56141928 56194679 Gain and loss Pancreatic cancer SNP array 17952125 chrX 562001 936500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56327957 56328057 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 56361001 56363500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56363501 56801500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56386606 56434691 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 56399811 56423596 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 56399811 56434691 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 56436916 56481775 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 56473093 56476399 Gain and loss Pancreatic cancer SNP array 17952125 chrX 56606796 56610102 Amplification Mental retardation qPCR 20877625 chrX 56614303 56614450 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 56622090 56770769 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 56622090 56770769 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 56641982 56642029 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 56646696 56647031 Gain and loss Pancreatic cancer SNP array 17952125 chrX 56664615 56733741 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 56668192 56713220 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 56670647 56690538 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 56670955 56976220 Copy number Alcoholism Illumina Human Hap704W-Quad BeadChip 21790672 chrX 56671260 56699429 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 56672079 56698585 Loss Normal 244K array 17666407 chrX 56673937 56698509 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 56675410 56692297 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 56675701 56694125 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 56676186 56693459 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 56676922 56697780 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 5667821 6006442 Gain and loss Pancreatic cancer SNP array 17952125 chrX 56682143 56696976 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 567532 56328254 Copy number Autism exome sequencing 22495311 chrX 56773125 56773224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 56801501 56803500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56803501 56845000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56815730 56815830 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 56845001 56848000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56848001 57994000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 56872074 56872155 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 56903625 56904323 Gain and loss Pancreatic cancer SNP array 17952125 chrX 57029137 57030945 Gain and loss Pancreatic cancer SNP array 17952125 chrX 57031397 57043485 Loss Normal 244K array 17666407 chrX 57034813 57034847 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 570428 570503 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 57158633 57158725 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 57196160 57398647 Gain and loss Pancreatic cancer SNP array 17952125 chrX 57212655 57212718 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 57330 1812318 Copy number Lung cancer paired-end sequencing 18438408 chrX 57402509 57402609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 57458049 57458147 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 57478846 57510973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 57501494 57504169 Gain and loss Pancreatic cancer SNP array 17952125 chrX 57515394 57773429 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 57557000 57557100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 57582798 59500000 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 57582798 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 57586656 57587903 Gain and loss Pancreatic cancer SNP array 17952125 chrX 57601803 62596023 Substitutions and indels small cell lung cancer array-CGH 20016488 chrX 57621199 57621299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 57630879 57632909 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 57652855 58470626 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 57673005 58051706 In Congenital diaphragmatic hernia Human Genome CGH 244K,SurePrint G3 Human CGH 1M Oligo,Microarray Kits,Illumina CytoSNP bead version 12.2,105 K Combimatrix Molecular Diagnostics array 21525063 chrX 57719679 57782088 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 57719679 57782088 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 57719679 57782088 High copy gain Normal High-resolution SNP genotyping 21211785 chrX 57733280 57767830 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 57766636 57944911 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 57766636 57944911 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 57766636 57944911 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 57767627 57947291 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 57782088 57949469 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 57782088 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 57782088 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 57817476 57819875 Gain and loss Pancreatic cancer SNP array 17952125 chrX 57851401 57893290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 57879339 57879439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 57944911 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 57944911 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 57947291 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 57949469 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 57994001 57996000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 57996001 58296500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 58007450 58042592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 58007678 58007763 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 58076028 58076097 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 58146822 58191678 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 5818082 6156706 Copy number Autism - 20643418 chrX 58296501 58336000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 58434524 58434561 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 58489001 58574500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 58506270 58539303 Amplification Medulloblastoma Illumina SNP arrays 21163964 chrX 5850969 5851054 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 58569501 61807900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 58574501 61651500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 5865411 6592588 Duplication Abnormal phenotypes fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 5870163 5870263 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 59500000 154913754 Duplication Mental retardation Salsa MLPA kit P036B and P070 20811773 chrX 59500000 154913754 Gain Astrocytoma CGH 17387387 chrX 59500000 154913754 Gain Glioblastoma multiforme CGH 19960244 chrX 59500000 154913754 Gain or loss Endometrial cancer CGH 22040021 chrX 59500000 154913754 Insertion Burkitt's lymphoma comparative genomic hybridization and gene expression profiling 18698080 chrX 59500000 154913754 Loss Breast cancer aCGH 21264507 chrX 59500000 154913754 Loss Glioblastoma multiforme CGH 17387387 chrX 59500000 154913754 Loss Metanephric adenoma Oligo aCGH 20802469 chrX 59500000 154913754 Loss Normal Human genome CGH 57k ARRAY PLATFORM 22144094 chrX 59500000 65000000 Copy number Normal - 21701786 chrX 59500000 65000000 Deletion Wilms tumour Array CGH 17204608 chrX 59500000 65000000 Duplication craniofacial dysmorphism array comparative genomic hybridization 21918468 chrX 59500000 67700000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 5997989 6007226 Loss or gain Normal 244K array 17666407 chrX 6000000 9500000 Copy number Congenital abnormalities BAC array CGH platform 21549014 chrX 6000000 9500000 Copy number Developmental delay BAC array CGH platform 21549014 chrX 6000000 9500000 Copy number Mental retardation BAC array CGH platform 21549014 chrX 6000000 9500000 Copy number Microphthalmia Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 6000000 9500000 Copy number Normal CMA V8.1 OLIGO 17427034 chrX 6000000 9500000 Copy number Normal fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 6000000 9500000 Copy number Steroid sulfatase deficiency BAC array CGH platform 21549014 chrX 6000000 9500000 Deletion Attention deficit hyperactivity disorder fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 6000000 9500000 Deletion Congenital abnormalities BAC array CGH platform 21549014 chrX 6000000 9500000 Deletion Developmental delay BAC array CGH platform 21549014 chrX 6000000 9500000 Deletion Ichthyosis fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 6000000 9500000 Deletion Mental retardation BAC array CGH platform 21549014 chrX 6000000 9500000 Deletion Mental retardation fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 6000000 9500000 Duplication Abnormal phenotypes fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 6000000 9500000 Duplication Congenital abnormalities BAC array CGH platform 21549014 chrX 6000000 9500000 Duplication Developmental delay BAC array CGH platform 21549014 chrX 6000000 9500000 Duplication Mental retardation BAC array CGH platform 21549014 chrX 6000000 9500000 Microdeletion Immune disease - 21076436 chrX 60000 2650000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chrX 61601961 100584873 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 101296213 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 111653924 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 115040156 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 115052342 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 118381854 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 118391678 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 125400935 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 125411524 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 126400687 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 132921955 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 134142544 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 134668338 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 134674948 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 134820207 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 140653112 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 140659765 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 151571286 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 151573312 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 151577384 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 151599726 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 153066394 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 154616855 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 154913754 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 61933019 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 62421602 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 64827107 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 64843592 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 64843592 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 64845214 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 64845214 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 64852870 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 64873082 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 65020565 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 65050983 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 65124622 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 65181420 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 65187369 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 65189950 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 65299258 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 66121810 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 66143905 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 66157983 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 66272019 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 66450298 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 66955459 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 67047114 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 67219920 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 67324699 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 67491063 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 67831564 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 67875792 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 67881321 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 68244803 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 68366327 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 70023242 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 70031385 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 70368491 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 61601961 71791136 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 75045795 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 75322405 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 75880839 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 77560955 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 78760283 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 78786159 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 78786159 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 78802755 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 78802755 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 80065601 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 83860125 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 86114537 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 88190505 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88195682 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88200947 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 88209889 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88209889 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 88222226 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 88234375 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88234375 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 88243707 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88243707 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 88261041 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88277495 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88344019 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88344019 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 88345452 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 61601961 88356305 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 90624992 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 90646981 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61601961 90667935 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 61651501 61653500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 61653501 61659000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 61659001 61691500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 61691501 61698500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 61698501 61726500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 61726501 61772500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 61743876 61743908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 61772501 61833000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 61833001 63323000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 61840882 61840945 Gain and loss Pancreatic cancer SNP array 17952125 chrX 61842117 61842188 Gain and loss Pancreatic cancer SNP array 17952125 chrX 61844961 61845000 Gain and loss Pancreatic cancer SNP array 17952125 chrX 61845999 61846066 Gain and loss Pancreatic cancer SNP array 17952125 chrX 61846148 61846216 Gain and loss Pancreatic cancer SNP array 17952125 chrX 61858467 67263999 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 61864776 154582692 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 61882705 66817530 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 6195386 6209037 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 61984759 62329082 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 6199944 6200433 Gain and loss Pancreatic cancer SNP array 17952125 chrX 62017507 62017607 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 62049666 62082964 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 62134485 62329082 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 62161259 62162297 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 62225955 67047114 LOH Normal High-resolution SNP genotyping 21211785 chrX 62225955 67092480 LOH Normal High-resolution SNP genotyping 21211785 chrX 62225955 68058839 LOH Normal High-resolution SNP genotyping 21211785 chrX 62256398 62287161 Gain Normal 244K array 17666407 chrX 62261452 62439240 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 62274955 62275055 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 62302056 62302569 Gain and loss Pancreatic cancer SNP array 17952125 chrX 62350265 62422581 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 62350265 62433715 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 62352623 62422593 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 62352970 62353719 Gain and loss Pancreatic cancer SNP array 17952125 chrX 62367110 62439240 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 62374362 62422551 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 62387165 62448547 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 62421602 62534299 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 62534299 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 62534299 88346142 LOH Normal High-resolution SNP genotyping 21211785 chrX 62601315 76754067 Substitutions and indels small cell lung cancer array-CGH 20016488 chrX 62637869 62758014 Gain and loss Pancreatic cancer SNP array 17952125 chrX 6266074 7296019 Loss Pancreatic ductal adenocarcinoma Array CGH 19077451 chrX 62701192 67922744 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 62771573 62891756 Copy number Autism exome sequencing 22495311 chrX 6289091 8159482 In Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 62928027 62928189 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 62978416 63012862 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 63000000 64600000 Copy number turner syndrome human 385K whole-genome oligonucleotide tiling array 20570968 chrX 63047561 63047968 Gain and loss Pancreatic cancer SNP array 17952125 chrX 63056524 63091555 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 6306419 6320575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 6306904 6325846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 6307046 6323864 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 6311522 6312895 Gain and loss Pancreatic cancer SNP array 17952125 chrX 63189018 63196187 Gain and loss Pancreatic cancer SNP array 17952125 chrX 63213592 63213889 Gain and loss Pancreatic cancer SNP array 17952125 chrX 63227097 63233508 Gain and loss Pancreatic cancer SNP array 17952125 chrX 63251143 63267890 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 63253432 63273184 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 63264193 63266226 Deletion Medulloblastoma Illumina SNP arrays 21163964 chrX 63270983 63398332 Gain and loss Pancreatic cancer SNP array 17952125 chrX 6329 154895334 Deletion infertile Array CGH 22614455 chrX 63317267 63317367 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 6331833 6335938 Loss Normal 244K array 17666407 chrX 63321721 63342349 Gain or loss Breast cancer - 20668451 chrX 63321721 63342349 Gain or loss Cancer - 20668451 chrX 63321721 63342349 Gain or loss Lung cancer - 20668451 chrX 63321721 63342349 Gain or loss Ovarian cancer - 20668451 chrX 63321721 63342349 Gain or loss Pancreas cancer - 20668451 chrX 63321721 63342349 Gain or loss Prostate cancer - 20668451 chrX 63321721 63342349 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 63321820 63666298 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 63323001 63343500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 63343501 64685500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 63391701 63424620 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 63435745 63436305 Gain and loss Pancreatic cancer SNP array 17952125 chrX 63472082 63472182 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 63581841 63581935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 6363118 6363197 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 63642582 63642682 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 6369342 6369430 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 6386 7027215 Substitutions and indels small cell lung cancer array-CGH 20016488 chrX 63919283 64037614 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64117427 64117491 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 64135509 64135609 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 6425567 6425667 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 64492021 64510787 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64515001 64843900 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 64515484 64537667 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64553805 64554083 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64554750 64555193 Gain and loss Pancreatic cancer SNP array 17952125 chrX 6456156 7909860 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 6456581 6471438 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 6465163 8095657 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 64670560 64742776 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64685501 64689000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 64689001 66681000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 6471450 6483920 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 64735720 64735820 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 64743589 64743664 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 64771346 64771412 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 64802080 64802523 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64803151 64839344 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64804235 64878518 Gain or loss Breast cancer - 20668451 chrX 64804235 64878518 Gain or loss Cancer - 20668451 chrX 64804235 64878518 Gain or loss Lung cancer - 20668451 chrX 64804235 64878518 Gain or loss Ovarian cancer - 20668451 chrX 64804235 64878518 Gain or loss Pancreas cancer - 20668451 chrX 64804235 64878518 Gain or loss Prostate cancer - 20668451 chrX 64804235 64878518 Translate Anaplastic large cell lymphoma Affymetrix Genome-wide Human SNP Array 6.0 20824076 chrX 64806000 64854709 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrX 64827107 64882966 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 64837049 64856251 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64843592 64899285 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 64845214 64916472 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 64852870 64924091 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 64854058 64879786 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64873082 65003504 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 64882966 80062177 LOH Normal High-resolution SNP genotyping 21211785 chrX 64882966 88190505 LOH Normal High-resolution SNP genotyping 21211785 chrX 64882966 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 64884255 64915867 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 64899285 134668338 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 64899285 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 64899285 68708670 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 70016118 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 74501485 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 78786159 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 80062177 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 80065601 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 88261041 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 88344019 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 64899285 88356305 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 101331897 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 64916472 68679390 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 68698533 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 69393633 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 69426857 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 69460031 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 69985835 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 70021422 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 71805236 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 72003670 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 72214445 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 78800526 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 78802755 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 80065601 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 80069450 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 87474346 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88195682 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88234375 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88243707 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88344019 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88346142 LOH Normal High-resolution SNP genotyping 21211785 chrX 64916472 88356305 LOH Normal High-resolution SNP genotyping 21211785 chrX 6492092 8051924 Gain Developmental delay affymetrix genechip 500K/SNP 6.92 array 21147756 chrX 64924091 78648589 LOH Normal High-resolution SNP genotyping 21211785 chrX 64924091 79109176 LOH Normal High-resolution SNP genotyping 21211785 chrX 64924091 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 64924091 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 64959152 64960059 Gain and loss Pancreatic cancer SNP array 17952125 chrX 64965288 64965388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 65000000 122944326 Copy number Acute lymphoblastic leukemia Illumina 1M-duo bead Infinium BD BeadChip 21098271 chrX 65003504 72592806 LOH Normal High-resolution SNP genotyping 21211785 chrX 65006292 65039290 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 65021733 65021842 Gain and loss Pancreatic cancer SNP array 17952125 chrX 65024555 65024655 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 65024603 65042970 Gain and loss Pancreatic cancer SNP array 17952125 chrX 65030687 65031140 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 65041293 65074274 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 65044877 65045284 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 65100000 154913754 Copy number Cancer ICA method 16751803 chrX 65100000 67700000 Copy number Craniofrontonasal syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 65100000 67700000 Copy number Normal - 21701786 chrX 65100000 67700000 Deletion Pulmonary arterial hypertension Illumina Human CNV370 and Affymetrix SNP 6.0 arrays 20581168 chrX 65100000 67700000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chrX 65100000 67700000 Gain Disorders of sex development oligo V6.3 21048976 chrX 65100000 67700000 Gain Myxofibrosarcoma Array CGH 16751306 chrX 65100000 76000000 Gain Glioblastoma multiforme aCGH 21080181 chrX 65165684 65270252 Gain and loss Pancreatic cancer SNP array 17952125 chrX 65269896 65269996 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 65292142 65292242 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 65366102 67173182 LOH Normal High-resolution SNP genotyping 21211785 chrX 65385501 65413711 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrX 65391615 68267975 LOH Normal High-resolution SNP genotyping 21211785 chrX 65440935 65444387 Gain and loss Pancreatic cancer SNP array 17952125 chrX 65549188 66901428 Insert Prostate cancer array-based comparativegenomic hybridization 21147910 chrX 6558299 7371465 Duplication Abnormal phenotypes fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 65598505 65641904 Gain and loss Pancreatic cancer SNP array 17952125 chrX 65611216 65934000 Deletion Intellectual disability Array CGH 22102821 chrX 6562512 8075294 Gain Bladder cancer array-CGH 21909424 chrX 65677977 154405100 Increase Cancer CGH 20581869 chrX 65678672 67093352 Insert Prostate cancer array-based comparativegenomic hybridization 21147910 chrX 65679121 65679226 Gain and loss Pancreatic cancer SNP array 17952125 chrX 65686393 65850049 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 65726037 65770730 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 65741765 65741865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 65769758 66920182 LOH Normal High-resolution SNP genotyping 21211785 chrX 65825717 65825817 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 6583258 8096663 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 6583258 8096663 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 65835353 65835424 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 66054244 66054344 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 66108300 67961300 Gain Prostate cancer Array CGH 18632612 chrX 66121810 66322064 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 66128403 66128492 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 66157983 66345917 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 66250525 66250697 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 6625133 7044363 Deletion Mental retardation - 20877625 chrX 66272019 66573234 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 66282690 66582954 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 66322064 71791136 LOH Normal High-resolution SNP genotyping 21211785 chrX 66333296 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 66345917 71805236 LOH Normal High-resolution SNP genotyping 21211785 chrX 66345917 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 66376569 66378043 Gain and loss Pancreatic cancer SNP array 17952125 chrX 66436234 67090514 Amplification Cancer Affymetrix 250K Sty array 20164920 chrX 66469340 66469400 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 66513103 66513402 Gain and loss Pancreatic cancer SNP array 17952125 chrX 66548010 66726807 Gain and loss Pancreatic cancer SNP array 17952125 chrX 66573234 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 66575592 66575692 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 66681001 66683500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 66683501 67766000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 66748407 66779871 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 66763873 66944119 Gain Prostate cancer Affymetrix Genome-Wide Human SNP array 6.0 19363497 chrX 66767622 66767722 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 66848086 67984821 LOH Normal High-resolution SNP genotyping 21211785 chrX 6687308 7593813 Deletion Mental retardation - 20877625 chrX 66884624 66915316 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 66895319 66918853 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 66955459 67047114 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 66973975 66974047 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 66979215 67325231 Copy number Alcoholism Illumina Human Hap709W-Quad BeadChip 21790672 chrX 67040554 67047021 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 67040554 67047027 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 67045736 67436668 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67047114 68708670 LOH Normal High-resolution SNP genotyping 21211785 chrX 67047114 68715047 LOH Normal High-resolution SNP genotyping 21211785 chrX 67047114 80062177 LOH Normal High-resolution SNP genotyping 21211785 chrX 67084921 67129224 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 67104931 67104993 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67148758 67194023 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 67178911 67570024 Copy number Autism exome sequencing 22495311 chrX 67198534 67831564 LOH Normal High-resolution SNP genotyping 21211785 chrX 67200000 67460000 Deletion Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 67265135 67265235 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 67301647 67942170 LOH Normal High-resolution SNP genotyping 21211785 chrX 67301647 67984821 LOH Normal High-resolution SNP genotyping 21211785 chrX 6730538 8445204 LOH Normal High-resolution SNP genotyping 21211785 chrX 67316897 67984821 LOH Normal High-resolution SNP genotyping 21211785 chrX 67329378 67350585 Loss Autism 1M Ailent CGH whole-genome array 21865298 chrX 67341153 67341253 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 67363938 67364048 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67369601 67369699 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 67379179 67385601 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 67416262 74473479 Amplification Mental retardation FISH Pos 20877625 chrX 67416262 74473479 Duplication brachycephaly - 20877625 chrX 67416262 74473479 Duplication epicanthic folds - 20877625 chrX 67416262 74473479 Duplication Mental retardation - 20877625 chrX 67442675 67476458 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 67457142 67457225 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67464020 67464069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 67500401 71472500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 67501907 67535321 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67542306 67542412 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67600830 67634079 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 67602962 67603336 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67640733 67675206 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 67643162 67677284 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 6764860 7131598 Duplication Abnormal phenotypes fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 67650525 67728698 Gain and loss Pancreatic cancer SNP array 17952125 chrX 6767106 6767534 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67690220 67690866 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 67690664 67722404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 67700000 72200000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 67700000 72200000 Copy number Normal - 21701786 chrX 67700000 72200000 Gain Myxofibrosarcoma Array CGH 16751306 chrX 67700000 76000000 Copy number Lujan-Fryns syndrom Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 67700000 76000000 Copy number Mental retardation Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 67700000 76000000 Copy number Normal - 21701786 chrX 67700000 76000000 Copy number Opitz-Kaveggia syndrome Gene Annotation Tool to Help Explain Relationships (GATHER) 21572526 chrX 67700000 76000000 Copy number X-linked sideroblastic anemia array-CGH 21569638 chrX 67700000 76000000 Microdeletion ATR-X Syndrome aCGH 22470819 chrX 67766001 67822500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 67767923 69787504 Amplification Mental retardation - 20877625 chrX 67771776 67771876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 67787094 67787933 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67822501 67826500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 67826501 67853500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 67831852 67845023 Gain and loss Pancreatic cancer SNP array 17952125 chrX 67836788 68546692 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 67853501 67864000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 67864001 67960000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 67899816 68240036 Duplication Congenital diaphragmatic hernia 15K oligonucleotide array CGH 21064195 chrX 67922744 68547060 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 67960001 67984000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 67966526 67966616 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 67984001 68090000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 68020002 68020101 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68058286 72711121 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 68090001 68114500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 68090487 68178785 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 68108722 68108822 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68114501 68462000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 68163719 68168385 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68207236 68211425 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68211392 68224026 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68221809 68221904 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68246089 68246179 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 6826697 6925925 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68288886 68288986 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 6834568 6834641 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68364808 68364908 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68365901 68373759 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 68366327 68415671 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 68415671 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 68445094 68445161 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68453405 68453497 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68462001 68640000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 68462039 68462099 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68505336 69493999 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chrX 68508099 68535370 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68547060 72633492 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 6856649 7058205 Deletion Mental retardation - 20877625 chrX 68611199 68653758 Copy number Alcoholism Illumina Human Hap706W-Quad BeadChip 21790672 chrX 68618727 68618827 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68619101 68619686 Gain Normal 244K array 17666407 chrX 68619174 69038480 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68621285 68621642 Loss Normal 244K array 17666407 chrX 68625748 68658652 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 68640001 68684500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 68668184 68712865 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 68675344 68675462 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68675344 68675464 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68679390 68743358 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 68684501 69558000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 68695821 68696019 Gain and loss Pancreatic cancer SNP array 17952125 chrX 68698533 68802558 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 68708670 68824790 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 68715047 68837657 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 68743358 88344786 LOH Normal High-resolution SNP genotyping 21211785 chrX 68802558 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 68824790 78760283 LOH Normal High-resolution SNP genotyping 21211785 chrX 68824790 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 68835840 68835915 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 68837657 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 68954026 68988725 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 68985723 68985823 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 69040065 69073814 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 69043413 69047307 Gain and loss Pancreatic cancer SNP array 17952125 chrX 690549 690689 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 69065362 69067050 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69070988 69071078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 69092772 71495524 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 69124851 69124905 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69130288 69130357 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69130361 69130412 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69130414 69130482 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69136320 69169192 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69180357 69208574 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69199065 69200754 Copy number Lung cancer - 20668451 chrX 69199065 69200754 Gain or loss Breast cancer - 20668451 chrX 69199065 69200754 Gain or loss Cancer - 20668451 chrX 69199065 69200754 Gain or loss Lung cancer - 20668451 chrX 69199065 69200754 Gain or loss Ovarian cancer - 20668451 chrX 69199065 69200754 Gain or loss Pancreas cancer - 20668451 chrX 69199065 69200754 Gain or loss Prostate cancer - 20668451 chrX 69202083 69224923 Copy number Alcoholism Illumina Human Hap723W-Quad BeadChip 21790672 chrX 69219787 69219998 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 69224877 69225187 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69237220 70351346 LOH Normal High-resolution SNP genotyping 21211785 chrX 69255913 69256033 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69255914 69256001 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69261398 69262495 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69271223 69284637 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69283471 70152446 LOH Normal High-resolution SNP genotyping 21211785 chrX 69285173 69286920 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69288980 69292893 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69292983 69423703 Gain and loss Pancreatic cancer SNP array 17952125 chrX 6932549 7063248 Deletion Mental retardation - 20877625 chrX 69345255 69345355 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 69357168 69357268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 69393633 69407776 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 69394740 69396379 Gain or loss Breast cancer - 20668451 chrX 69394740 69396379 Gain or loss Cancer - 20668451 chrX 69394740 69396379 Gain or loss Lung cancer - 20668451 chrX 69394740 69396379 Gain or loss Ovarian cancer - 20668451 chrX 69394740 69396379 Gain or loss Pancreas cancer - 20668451 chrX 69394740 69396379 Gain or loss Prostate cancer - 20668451 chrX 69396940 69430707 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 69399150 69399244 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69399153 69399243 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69407776 88344019 LOH Normal High-resolution SNP genotyping 21211785 chrX 69423556 70891054 Loss Normal 244K array 17666407 chrX 69426012 69436251 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69426619 69557461 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 69426857 69489910 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 69448073 69508358 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69453750 69453893 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69453750 69453896 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69460031 69538988 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 69489910 80062177 LOH Normal High-resolution SNP genotyping 21211785 chrX 69493999 69701501 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chrX 69512079 69531406 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 69531823 69900417 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69538988 80069450 LOH Normal High-resolution SNP genotyping 21211785 chrX 69558001 69564000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 69564001 69581000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 69581001 69594500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 69581449 69642062 Copy number Autism exome sequencing 22495311 chrX 69594501 70273000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 69637575 69638673 Deletion Aldolase A deficiency Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 69637575 69638673 Deletion Benign familial neonatal-infantile seizures Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 69637575 69638673 Deletion Mental retardation Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 69637575 69638673 Deletion STAR syndrome Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 69649374 69651123 Copy number Alcoholism Illumina Human Hap695W-Quad BeadChip 21790672 chrX 69701501 70174245 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chrX 697043 6930298 Copy number Autism exome sequencing 22495311 chrX 69745675 69745675 Copy number Prostate cancer Illumina GA II sequencer 21307934 chrX 6977886 7066365 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 69848951 69849166 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69848952 69849166 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69928459 69933996 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69940000 70380000 Loss Ovarian cancer 250K Affymetrix SNP Mapping arrays 17699850 chrX 6997233 7132587 Gain and loss Pancreatic cancer SNP array 17952125 chrX 69985835 70057672 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 70016118 70061890 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 70021422 70064257 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 70023147 70023304 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70023242 70067172 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 70031385 70069940 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 70039710 70040648 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 70045892 70080404 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 70054630 70058042 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 70057672 78648589 LOH Normal High-resolution SNP genotyping 21211785 chrX 70057780 70058039 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 70061890 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 70063809 70071252 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70064257 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 70067172 80069450 LOH Normal High-resolution SNP genotyping 21211785 chrX 70069940 78802755 LOH Normal High-resolution SNP genotyping 21211785 chrX 70099231 70106405 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70110280 70114424 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70121592 70145089 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70147772 70174070 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70166290 70166370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 70174245 70800355 Gain Acute lymphoblastic leukemia Affymetrix SNP 6.0 and 500K microarrays 22237106 chrX 70209936 72143688 LOH Normal High-resolution SNP genotyping 21211785 chrX 70218110 70228065 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70232750 70240109 Gain or loss Breast cancer - 20668451 chrX 70232750 70240109 Gain or loss Cancer - 20668451 chrX 70232750 70240109 Gain or loss Lung cancer - 20668451 chrX 70232750 70240109 Gain or loss Ovarian cancer - 20668451 chrX 70232750 70240109 Gain or loss Pancreas cancer - 20668451 chrX 70232750 70240109 Gain or loss Prostate cancer - 20668451 chrX 70242495 70257444 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70255131 70279029 Copy number Autism exome sequencing 22495311 chrX 70270377 73471474 LOH Normal High-resolution SNP genotyping 21211785 chrX 70273001 70292000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70280436 70308776 Copy number Autism exome sequencing 22495311 chrX 70281435 70307776 Copy number Autism - 20643418 chrX 70281435 70307776 Copy number Normal - 21701786 chrX 70286488 70304037 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70287974 77257607 LOH Normal High-resolution SNP genotyping 21211785 chrX 70288980 70460080 Duplication Autism quantitative PCR 19404257 chrX 70289673 73471474 LOH Normal High-resolution SNP genotyping 21211785 chrX 70292001 70359500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70304649 70308225 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70304724 77420966 LOH Normal High-resolution SNP genotyping 21211785 chrX 70320943 70321043 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 7032339 57594783 Substitutions and indels small cell lung cancer array-CGH 20016488 chrX 70339401 70348100 Deletion Glioma mate-paired sequence 20126413 chrX 70349627 70349676 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 70351786 70361777 Copy number Charcot-marie-tooth disease oligonucleotide-based CGH microarrays 22275255 chrX 70355289 70355862 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70355679 73466262 LOH Normal High-resolution SNP genotyping 21211785 chrX 70355679 73471474 LOH Normal High-resolution SNP genotyping 21211785 chrX 70359501 70361500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70359780 70361790 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 70361501 70384000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70364516 73471474 LOH Normal High-resolution SNP genotyping 21211785 chrX 70368491 71454284 LOH Normal High-resolution SNP genotyping 21211785 chrX 70368491 72129048 LOH Normal High-resolution SNP genotyping 21211785 chrX 70368491 73471474 LOH Normal High-resolution SNP genotyping 21211785 chrX 70369135 70467321 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70375180 70375270 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 70377068 73459301 LOH Normal High-resolution SNP genotyping 21211785 chrX 70384001 70391500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70390030 71254740 LOH Normal High-resolution SNP genotyping 21211785 chrX 70390030 75145279 LOH Normal High-resolution SNP genotyping 21211785 chrX 70391501 70502500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70409726 70482398 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 70415920 70415990 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 70420191 70437743 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 7044601 8273473 Loss Developmental delay affymetrix genechip 500K/SNP 6.93 array 21147756 chrX 70493939 70494038 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70494990 70495118 Gain and loss Pancreatic cancer SNP array 17952125 chrX 7049533 7400035 Duplication Abnormal phenotypes fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 70502501 70504000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70504001 70715000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70535954 70578761 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70581282 70616454 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70592723 70626540 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 7061134 7483618 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 70618788 70621388 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70621616 70658723 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 70654274 70864233 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 70654274 71054835 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 70654274 71083437 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 7066365 8401939 LOH Normal High-resolution SNP genotyping 21211785 chrX 7066365 8452297 LOH Normal High-resolution SNP genotyping 21211785 chrX 7066365 9332929 LOH Normal High-resolution SNP genotyping 21211785 chrX 70670663 70768256 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70714598 70750158 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 70715001 70716500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70716501 70752000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70752001 70764000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70752490 70755092 Gain or loss Breast cancer - 20668451 chrX 70752490 70755092 Gain or loss Cancer - 20668451 chrX 70752490 70755092 Gain or loss Lung cancer - 20668451 chrX 70752490 70755092 Gain or loss Ovarian cancer - 20668451 chrX 70752490 70755092 Gain or loss Pancreas cancer - 20668451 chrX 70752490 70755092 Gain or loss Prostate cancer - 20668451 chrX 70763041 73471474 LOH Normal High-resolution SNP genotyping 21211785 chrX 70764001 70796500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70796501 70809000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70809001 70950500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70826683 70826763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 7092995 7093095 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 70950501 70953500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70953501 71003000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 70965499 71010804 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 70968843 70968945 Gain and loss Pancreatic cancer SNP array 17952125 chrX 70968843 70968948 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71003001 71010500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 71010501 71205000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 71039932 71040248 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 71039946 71040262 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 71047416 71047829 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71129984 71134772 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71135208 77339647 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 71162704 71163123 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71184547 71200961 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71201584 71201921 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71205001 71207000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 71207001 71277500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 71207885 71211205 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71241346 71241446 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 71245064 71245164 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 71266288 71266388 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 71275475 71280162 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71277501 71437000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 71280758 71298324 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 71282598 78470414 LOH Normal High-resolution SNP genotyping 21211785 chrX 71287817 71287916 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71287818 71287917 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71304526 71309811 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71318250 71334666 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 71332388 71575689 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71341231 71375583 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 713753 713847 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 71378705 72027213 LOH Normal High-resolution SNP genotyping 21211785 chrX 71379850 71380040 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71379853 71380039 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71437001 71454500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 71454284 71518342 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 71454501 72204000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 71466090 71709378 Deletion Mental retardation PCR 20877625 chrX 71466465 77257607 LOH Normal High-resolution SNP genotyping 21211785 chrX 71479256 71513378 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 71490798 73193554 LOH Normal High-resolution SNP genotyping 21211785 chrX 71490798 73569363 LOH Normal High-resolution SNP genotyping 21211785 chrX 71490798 78470414 LOH Normal High-resolution SNP genotyping 21211785 chrX 71509676 79007113 LOH Normal High-resolution SNP genotyping 21211785 chrX 71518342 73640144 LOH Normal High-resolution SNP genotyping 21211785 chrX 71518342 76538802 LOH Normal High-resolution SNP genotyping 21211785 chrX 71571275 71572275 Loss Renal cell carcinoma References 21215367 chrX 71583502 71716908 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71588502 71588562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 71600000 71800000 Duplication renal disease Array CGH, FISH 17924346 chrX 71618464 71619464 Gain Renal cell carcinoma References 21215367 chrX 71715388 71850754 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 71728996 71729211 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71728997 71729211 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71743551 71743714 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71743554 71743714 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71748556 71748656 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 71779854 71851656 Gain and loss Pancreatic cancer SNP array 17952125 chrX 7179309 7179399 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 71872264 72117317 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 71874881 71946674 Gain and loss Pancreatic cancer SNP array 17952125 chrX 71996854 72127523 Insertion Non-syndromic sensorineural hearing loss Alignment Nets 17431168 chrX 72011745 72115787 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 72011745 72117317 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 72011745 72119360 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 72014894 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 72014894 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 72052490 72115787 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 72075503 75322405 LOH Normal High-resolution SNP genotyping 21211785 chrX 72075503 78648589 LOH Normal High-resolution SNP genotyping 21211785 chrX 72075503 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 72081644 72082372 Gain and loss Pancreatic cancer SNP array 17952125 chrX 7211600 7211700 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 72116832 154582692 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 72142672 79401654 LOH Normal High-resolution SNP genotyping 21211785 chrX 72155547 78648589 LOH Normal High-resolution SNP genotyping 21211785 chrX 72155547 78802755 LOH Normal High-resolution SNP genotyping 21211785 chrX 72200000 73800000 Copy number Normal - 21701786 chrX 72200000 73800000 Loss Breast cancer oligonucleotide CGH arrays 19602461 chrX 72204001 72206500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 72206501 73240000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 72214445 72679742 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 72215967 72217349 Gain and loss Pancreatic cancer SNP array 17952125 chrX 72249275 72249340 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 72250702 72250852 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 72250809 76538802 LOH Normal High-resolution SNP genotyping 21211785 chrX 72250809 77257607 LOH Normal High-resolution SNP genotyping 21211785 chrX 72263960 77455674 LOH Normal High-resolution SNP genotyping 21211785 chrX 72277547 72278376 Gain and loss Pancreatic cancer SNP array 17952125 chrX 72325452 72325552 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 72400391 72400494 Gain and loss Pancreatic cancer SNP array 17952125 chrX 72401325 72471681 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 72404722 72471681 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 72450111 72457442 Gain and loss Pancreatic cancer SNP array 17952125 chrX 72484702 77810320 LOH Normal High-resolution SNP genotyping 21211785 chrX 72564819 72564919 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 72592806 72773962 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 72593864 72622375 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 72600361 72619440 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 72679742 88243707 LOH Normal High-resolution SNP genotyping 21211785 chrX 72772113 72773216 Gain and loss Pancreatic cancer SNP array 17952125 chrX 72773962 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 72775649 72775739 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 72830686 72830763 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 72830707 72830780 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 72877924 72878491 Gain and loss Pancreatic cancer SNP array 17952125 chrX 72894794 72932894 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 72917272 75301024 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 72939901 75368700 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 72954242 72969664 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 73002617 73002784 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73064674 73064754 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73082856 73086605 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 7309953 7310053 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73105907 75728414 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 73110859 73113374 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 73221238 73221316 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73240001 73242500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73242501 73254500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73245465 73245760 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73254501 73256000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73256001 73282500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73282501 73284000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73284001 73457500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73290142 73290213 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73307046 73307885 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73322988 75849053 LOH Normal High-resolution SNP genotyping 21211785 chrX 73393548 73393845 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73399725 73400177 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73412374 73412956 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73412660 73412760 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73424106 73536772 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73427598 73427698 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73429587 73693229 Amplification Mental retardation - 20877625 chrX 73456447 73456649 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73457501 73460000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73457916 73458008 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73460001 73490500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73467045 73467112 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 73490501 73492000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73492001 73556500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73513641 73513716 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73548269 73548530 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 73556501 73560500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73557810 73670477 Copy number Autism exome sequencing 22495311 chrX 73560501 76168000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 73561197 77997008 LOH Normal High-resolution SNP genotyping 21211785 chrX 73561197 78685463 LOH Normal High-resolution SNP genotyping 21211785 chrX 73561221 73561321 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73569363 77257607 LOH Normal High-resolution SNP genotyping 21211785 chrX 73569363 77726293 LOH Normal High-resolution SNP genotyping 21211785 chrX 73569363 77741508 LOH Normal High-resolution SNP genotyping 21211785 chrX 73569363 77810320 LOH Normal High-resolution SNP genotyping 21211785 chrX 73569363 78442974 LOH Normal High-resolution SNP genotyping 21211785 chrX 73569363 78685463 LOH Normal High-resolution SNP genotyping 21211785 chrX 73585944 73586384 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73588087 73593716 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73591860 73591960 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73593066 73617464 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73610704 73610804 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73640648 73640696 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 7364501 7396845 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 73660821 74527890 LOH Normal High-resolution SNP genotyping 21211785 chrX 73660821 76227625 LOH Normal High-resolution SNP genotyping 21211785 chrX 73682500 99853100 Gain Prostate cancer Array CGH 18632612 chrX 73682909 73683015 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73682910 73683015 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73702400 73702500 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 73726768 73751168 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 73736433 73928341 Gain and loss Pancreatic cancer SNP array 17952125 chrX 73800000 76000000 Copy number Normal - 21701786 chrX 73800000 76000000 Duplication Premature ovarian failure aCGH 20952765 chrX 73800000 84500000 Copy number Premature ovarian failure aCGH 20952765 chrX 73841896 77893117 LOH Normal High-resolution SNP genotyping 21211785 chrX 73841896 77898814 LOH Normal High-resolution SNP genotyping 21211785 chrX 73870136 74061709 Deletion Intellectual disability 100k SNP Array 21811512 chrX 73870137 74061709 Copy number Autism exome sequencing 22495311 chrX 73969492 73969592 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 74004032 77810320 LOH Normal High-resolution SNP genotyping 21211785 chrX 74051644 74051769 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74051658 74051748 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74056130 74159153 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74130948 74140631 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 74130948 74151100 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 74205559 74205664 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74205559 74205665 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74273289 74273372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 74276946 74307456 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74375082 74525896 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74442090 74442190 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 74498339 74498439 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 74501485 74640743 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 74516445 74516507 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 74516463 74516525 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 74585515 74586260 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74632156 74632256 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 74640743 88346142 LOH Normal High-resolution SNP genotyping 21211785 chrX 74662162 74706877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 7467408 7532246 Copy number Lung cancer paired-end sequencing 18438408 chrX 74747445 74749975 Gain and loss Pancreatic cancer SNP array 17952125 chrX 74786336 74787907 Gain and loss Pancreatic cancer SNP array 17952125 chrX 7480688 8077529 Duplication Abnormal phenotypes fluorescent in situ hybridization (FISH), multiplex ligation-dependent amplification (MLPA) and quantitative PCR (qPCR) 21355048 chrX 74811330 75020028 Amplification Mental retardation - 20877625 chrX 74827070 74827149 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 7483600 24032000 Gain Prostate cancer Array CGH 18632612 chrX 7483618 153951934 Gain Prostate cancer Array CGH 18632612 chrX 7483618 153951934 Loss Prostate cancer Array CGH 18632612 chrX 74890843 74890920 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 74999189 74999289 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 75002307 75042072 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 75008803 75008903 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 75045795 75211725 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 75175469 75180730 Gain and loss Pancreatic cancer SNP array 17952125 chrX 75211725 82084775 LOH Normal High-resolution SNP genotyping 21211785 chrX 75248067 75248172 Gain and loss Pancreatic cancer SNP array 17952125 chrX 75248067 75248173 Gain and loss Pancreatic cancer SNP array 17952125 chrX 75322405 75558039 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 75337949 75338962 Gain and loss Pancreatic cancer SNP array 17952125 chrX 75430817 75434444 Gain and loss Pancreatic cancer SNP array 17952125 chrX 7547944 154568418 Copy number Lung cancer paired-end sequencing 18438408 chrX 75558039 78648589 LOH Normal High-resolution SNP genotyping 21211785 chrX 75558039 88346142 LOH Normal High-resolution SNP genotyping 21211785 chrX 75562275 75562375 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 75658139 75658228 Gain and loss Pancreatic cancer SNP array 17952125 chrX 75694269 75729729 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 75705689 75737256 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 7586492 7619992 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 75880839 76050292 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 7589763 7616720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 75941622 75943034 Gain and loss Pancreatic cancer SNP array 17952125 chrX 75946519 75946695 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 76000000 137800000 Loss Glioblastoma multiforme conventional CGH 21080181 chrX 76000000 84500000 Copy number Normal - 21701786 chrX 76000000 91900000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 76000000 98200000 Microdeletion Mental retardation Array CGH 17339581 chrX 76008516 76008613 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76026005 76026075 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 76050292 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 76069817 76069935 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76069817 76069937 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76095001 78830304 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 76101603 76101656 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 76168001 76171500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 76171501 76350500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 761783 761916 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 7618685 7623776 Loss Normal 244K array 17666407 chrX 7620039 7621793 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76219661 76440313 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76219661 76461522 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76219661 76462875 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76255522 76255622 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 76266264 76440313 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76266264 76476581 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76270041 76295047 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 76278671 76440313 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76278671 76461522 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76278671 76462875 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76278671 76494262 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76278683 76461534 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 76295049 154582692 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 76310460 76440313 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76310460 76494262 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 7631452 7631783 Loss Normal 244K array 17666407 chrX 7632203 7633589 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 76328214 76462875 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 76328266 76615662 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 76348431 76382166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 76350501 76352000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 76352001 76411500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 76354598 76355578 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76379388 83644156 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 76411501 76420500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 76420501 76845500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 76515792 76518158 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76534899 76602081 Deletion Mental retardation - 20877625 chrX 76567336 76847847 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76574765 76574865 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 76596302 76598669 Gain or loss Breast cancer - 20668451 chrX 76596302 76598669 Gain or loss Cancer - 20668451 chrX 76596302 76598669 Gain or loss Lung cancer - 20668451 chrX 76596302 76598669 Gain or loss Ovarian cancer - 20668451 chrX 76596302 76598669 Gain or loss Pancreas cancer - 20668451 chrX 76596302 76598669 Gain or loss Prostate cancer - 20668451 chrX 76603730 77413482 Copy number Alcoholism Illumina Human Hap707W-Quad BeadChip 21790672 chrX 76607014 79006208 LOH Normal High-resolution SNP genotyping 21211785 chrX 7663935 7693918 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 76646979 76983735 Microduplication Mental retardation oligonucleotide agilent array 244K 22129561 chrX 76647012 76928375 Copy number Autism exome sequencing 22495311 chrX 766820 7703721 Copy number Autism exome sequencing 22495311 chrX 76759131 76892211 Substitutions and indels small cell lung cancer array-CGH 20016488 chrX 7676540 7705179 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76783758 76783836 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 76813775 76813875 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 76845501 76847500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 76847501 78672000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 76888009 76888915 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76888009 76957072 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76898931 76899037 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76898932 76899037 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76899435 154584063 Substitutions and indels small cell lung cancer array-CGH 20016488 chrX 76915420 77030430 Gain Autism qPCR 20531469 chrX 76954005 77257607 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 76961116 76967026 Gain and loss Pancreatic cancer SNP array 17952125 chrX 76972369 77108356 Gain and loss Pancreatic cancer SNP array 17952125 chrX 7702873 7702972 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 77030516 77031280 Gain and loss Pancreatic cancer SNP array 17952125 chrX 77031055 77115217 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 77041616 77047537 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 7705250 7719248 Copy number Autism exome sequencing 22495311 chrX 77052849 77192548 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 77165914 77188467 Gain and loss Pancreatic cancer SNP array 17952125 chrX 77191391 77201342 Gain and loss Pancreatic cancer SNP array 17952125 chrX 77214532 77214861 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 772382 76928375 Copy number Glioblastoma multiforme Illumina SNP arrays 22286061 chrX 77246321 77268980 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 77246322 77268980 Copy number Autism exome sequencing 22495311 chrX 7729432 7729532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 7732357 7733919 Gain and loss Pancreatic cancer SNP array 17952125 chrX 77334276 77389232 Gain and loss Pancreatic cancer SNP array 17952125 chrX 77340064 77554873 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 77364840 77364892 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 77388926 77389026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 77402667 77410744 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 77469877 77500644 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 77560955 77674214 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 77581501 77586000 Deletion Glioma mate-paired sequence 20126413 chrX 77583509 77584106 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 776157 777398 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 77668195 83800277 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 77674214 87470348 LOH Normal High-resolution SNP genotyping 21211785 chrX 77677805 77677905 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 77717711 77720970 Gain and loss Pancreatic cancer SNP array 17952125 chrX 77737310 78474956 LOH Normal High-resolution SNP genotyping 21211785 chrX 77744782 78868172 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chrX 7780000 8390000 Duplication Epilepsy whole-genome oligonucleotide array CGH 20502679 chrX 77816446 77818738 Gain and loss Pancreatic cancer SNP array 17952125 chrX 77825171 78442974 LOH Normal High-resolution SNP genotyping 21211785 chrX 77845698 77845754 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 77862864 79323095 LOH Normal High-resolution SNP genotyping 21211785 chrX 77878382 77878441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 77987862 77987962 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78006974 78023582 Gain and loss Pancreatic cancer SNP array 17952125 chrX 78008227 78008282 Gain Non-syndromic sensorineural hearing loss long-inserted paired-end 19587683 chrX 7801179 8159482 In Normal Agilent G2565 Microarray Scanner,Agilent Feature Extraction software (v9.0),aCGH 20848651 chrX 78015543 78015638 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78028358 78028458 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78087484 78104094 Copy number Lung cancer - 20668451 chrX 78087484 78104094 Gain or loss Breast cancer - 20668451 chrX 78087484 78104094 Gain or loss Cancer - 20668451 chrX 78087484 78104094 Gain or loss Lung cancer - 20668451 chrX 78087484 78104094 Gain or loss Ovarian cancer - 20668451 chrX 78087484 78104094 Gain or loss Pancreas cancer - 20668451 chrX 78087484 78104094 Gain or loss Prostate cancer - 20668451 chrX 7818290 7818420 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 78203178 78203278 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78232614 78233871 Gain and loss Pancreatic cancer SNP array 17952125 chrX 78247312 78365680 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 7826803 7855443 Loss Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrX 78300270 78300370 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78333282 78333382 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78342555 78342609 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 78369560 78400536 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78375314 78375414 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78378215 78378247 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78400536 78435323 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78409924 78410024 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78422030 78429001 Gain and loss Pancreatic cancer SNP array 17952125 chrX 78438925 78511650 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78477083 78477153 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 78488480 78488558 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78516510 78691682 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78541976 78542076 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 7857032 7857127 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78611512 78611566 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 78618671 78618770 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 78648589 78809046 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 78648589 78810456 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 78672001 78674000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 78674001 79714000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 78696132 78747939 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78724077 78737732 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 78748866 78784241 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78760283 78814831 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 78760283 78814831 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 78772193 78812486 Copy number Alcoholism Illumina Human Hap686W-Quad BeadChip 21790672 chrX 78785688 78854537 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78786159 78830391 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 78786159 78830391 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 78786159 78830391 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 78800526 78831401 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 78802755 78835727 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 78802755 78835727 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78802755 78835727 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrX 78802755 78835727 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrX 78802755 78864786 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78805985 78813962 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 78809046 80065601 LOH Normal High-resolution SNP genotyping 21211785 chrX 78809046 80069450 LOH Normal High-resolution SNP genotyping 21211785 chrX 78809046 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 78809046 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 78810456 80027296 LOH Normal High-resolution SNP genotyping 21211785 chrX 78814831 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78814831 81872494 LOH Normal High-resolution SNP genotyping 21211785 chrX 78830391 151965063 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78830391 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78830391 154608206 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78830391 80062177 LOH Normal High-resolution SNP genotyping 21211785 chrX 78830391 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 78830391 88346142 LOH Normal High-resolution SNP genotyping 21211785 chrX 78831101 78837400 Deletion Glioma mate-paired sequence 20126413 chrX 78831401 80027296 LOH Normal High-resolution SNP genotyping 21211785 chrX 78833105 78835491 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 78835727 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78835727 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78835727 79596297 LOH Normal High-resolution SNP genotyping 21211785 chrX 78835727 80062177 LOH Normal High-resolution SNP genotyping 21211785 chrX 78835727 80065601 LOH Normal High-resolution SNP genotyping 21211785 chrX 78835727 88200947 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 78835727 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 78835727 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 78835727 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 78855989 103058122 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chrX 78856228 78907724 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78910649 79687955 Copy number Breast cancer dChip,CNAG,GEMCA 21611746 chrX 78958873 78959166 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 78960944 78961044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 79006864 79006940 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 790123 790377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 79040422 79065082 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 79056652 82305551 LOH Normal High-resolution SNP genotyping 21211785 chrX 79083887 79093413 Gain and loss Pancreatic cancer SNP array 17952125 chrX 79108774 79108946 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 79109176 79169109 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 79112294 81170821 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 79124893 79124957 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 79142357 79175089 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 79156910 79173924 Copy number Lung cancer - 20668451 chrX 79156910 79173924 Gain or loss Breast cancer - 20668451 chrX 79156910 79173924 Gain or loss Cancer - 20668451 chrX 79156910 79173924 Gain or loss Lung cancer - 20668451 chrX 79156910 79173924 Gain or loss Ovarian cancer - 20668451 chrX 79156910 79173924 Gain or loss Pancreas cancer - 20668451 chrX 79156910 79173924 Gain or loss Prostate cancer - 20668451 chrX 79169109 88346142 LOH Normal High-resolution SNP genotyping 21211785 chrX 79202384 79210690 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 79224500 79224597 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 79270095 79270195 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 79370597 80023614 LOH Normal High-resolution SNP genotyping 21211785 chrX 79370597 81293321 LOH Normal High-resolution SNP genotyping 21211785 chrX 79391322 79391411 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 79397148 79506957 Gain and loss Pancreatic cancer SNP array 17952125 chrX 79431777 79460946 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 79433315 79433415 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 7944700 7964846 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 7947721 7949044 Gain and loss Pancreatic cancer SNP array 17952125 chrX 79596297 79773098 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 79597154 79597221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 79695523 79695623 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 79714001 79719500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 79719501 81009000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 79737840 79871378 Gain and loss Pancreatic cancer SNP array 17952125 chrX 79773098 88234375 LOH Normal High-resolution SNP genotyping 21211785 chrX 79795763 80176286 Loss Normal 244K array 17666407 chrX 79818339 79951889 Copy number Autism exome sequencing 22495311 chrX 79962430 79962507 Gain and loss Pancreatic cancer SNP array 17952125 chrX 79991102 79991993 Gain and loss Pancreatic cancer SNP array 17952125 chrX 79998078 79998181 Gain and loss Pancreatic cancer SNP array 17952125 chrX 80025712 80025843 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 80027296 80122782 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 80044265 82305551 LOH Normal High-resolution SNP genotyping 21211785 chrX 80062177 80171550 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 80065601 80212527 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 80069450 80246839 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 80122782 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 80122782 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 80171550 82062368 LOH Normal High-resolution SNP genotyping 21211785 chrX 80171550 83822165 LOH Normal High-resolution SNP genotyping 21211785 chrX 80171550 88234375 LOH Normal High-resolution SNP genotyping 21211785 chrX 80171550 88243707 LOH Normal High-resolution SNP genotyping 21211785 chrX 80174272 80174372 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 80175345 80263586 Gain and loss Pancreatic cancer SNP array 17952125 chrX 80212527 81792347 LOH Normal High-resolution SNP genotyping 21211785 chrX 80212527 83867824 LOH Normal High-resolution SNP genotyping 21211785 chrX 80212527 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 80212527 88234375 LOH Normal High-resolution SNP genotyping 21211785 chrX 80212527 88277495 LOH Normal High-resolution SNP genotyping 21211785 chrX 80212527 88344019 LOH Normal High-resolution SNP genotyping 21211785 chrX 80212527 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 80226494 80226594 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 80246839 83860125 LOH Normal High-resolution SNP genotyping 21211785 chrX 80246839 88190505 LOH Normal High-resolution SNP genotyping 21211785 chrX 80246839 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 80246839 88243707 LOH Normal High-resolution SNP genotyping 21211785 chrX 80263588 80360181 Gain and loss Pancreatic cancer SNP array 17952125 chrX 80303149 80304087 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 80324504 80358858 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 80432527 80477416 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 80823168 80823252 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 80834226 80864984 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 80885905 80926899 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 80899993 80920601 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 80900929 80923513 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 80923778 80923878 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 80929156 80929735 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 8096663 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 80981182 80983592 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 80983296 80989346 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 80983297 80989361 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 8098834 8452297 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 81009001 81019000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 81019001 81869000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 81062814 81062921 Gain and loss Pancreatic cancer SNP array 17952125 chrX 81170821 81452811 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 81251644 81251718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 81274043 81274143 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 8129008 8140291 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 8129352 8140291 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 81396052 81440809 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 81452811 83595935 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 8153859 8154136 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 81568028 81568406 Gain and loss Pancreatic cancer SNP array 17952125 chrX 81622796 81622940 Gain and loss Pancreatic cancer SNP array 17952125 chrX 81622796 81622941 Gain and loss Pancreatic cancer SNP array 17952125 chrX 8163703 8163773 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 81643254 81643354 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 81675816 81675910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 81710219 81741624 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 81783316 81797771 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 81787612 81874294 Copy number Alcoholism Illumina Human Hap697W-Quad BeadChip 21790672 chrX 818000 856028 Duplication Non-syndromic sensorineural hearing loss References 19212409 chrX 81811241 81811336 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 81821482 81856605 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 81869001 81873500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 81869019 81874827 Deletion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 81872494 82146729 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 81873501 82269000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 81875727 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 81937885 81937950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 81963837 81998285 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 82062368 82146729 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 82082000 82082100 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 82084775 82154457 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 82085957 82093891 Deletion Medulloblastoma Illumina SNP arrays 21163964 chrX 82146729 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 82146729 88346142 LOH Normal High-resolution SNP genotyping 21211785 chrX 82154457 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 82218638 82218738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 82269001 82271000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 82271001 84761000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 823120 823935 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 82469563 82470276 Gain and loss Pancreatic cancer SNP array 17952125 chrX 82569478 82570563 Gain and loss Pancreatic cancer SNP array 17952125 chrX 82620800 83396046 LOH Normal High-resolution SNP genotyping 21211785 chrX 82650859 84083261 LOH Normal High-resolution SNP genotyping 21211785 chrX 82658762 82658848 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 8271277 8271377 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 82725415 82725501 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 82739912 82740012 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 82752745 84952581 LOH Normal - 20944671 chrX 82809999 82810999 Gain and loss Pancreatic cancer SNP array 17952125 chrX 82877443 82877537 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 82922299 82947737 Gain and loss Pancreatic cancer SNP array 17952125 chrX 830133 830847 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 830148 1444816 Copy number Alcoholism Illumina Human Hap708W-Quad BeadChip 21790672 chrX 8306651 8509963 Gain and loss Pancreatic cancer SNP array 17952125 chrX 83125129 83249060 Gain and loss Pancreatic cancer SNP array 17952125 chrX 83177692 83177792 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 83379028 83563606 Gain and loss Pancreatic cancer SNP array 17952125 chrX 83595935 85485268 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 83644156 86113042 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 83644594 83689430 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 83698526 83698626 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 83800277 84090897 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 83822165 83887542 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 83860125 83915655 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 83867824 83924885 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 83869251 83869330 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 83887542 88200947 LOH Normal High-resolution SNP genotyping 21211785 chrX 83915655 88222226 LOH Normal High-resolution SNP genotyping 21211785 chrX 83924885 88243707 LOH Normal High-resolution SNP genotyping 21211785 chrX 83994546 85953880 LOH Normal High-resolution SNP genotyping 21211785 chrX 83995302 83996040 Gain and loss Pancreatic cancer SNP array 17952125 chrX 8401939 8444026 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 84090897 87491151 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 84098311 84148918 Gain and loss Pancreatic cancer SNP array 17952125 chrX 84153438 84169594 Gain and loss Pancreatic cancer SNP array 17952125 chrX 8418637 8459620 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8418637 8471631 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8423258 8464146 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8423258 8466357 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 84257754 84280695 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 84280290 87573643 LOH Normal High-resolution SNP genotyping 21211785 chrX 84305236 84334511 Gain and loss Pancreatic cancer SNP array 17952125 chrX 84338547 84440893 Gain and loss Pancreatic cancer SNP array 17952125 chrX 84365813 84365913 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 84369236 84369322 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 84371225 84371301 Gain and loss Pancreatic cancer SNP array 17952125 chrX 84374009 84374109 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 84385653 84415025 Copy number Autism exome sequencing 22495311 chrX 8444026 9401315 LOH Normal High-resolution SNP genotyping 21211785 chrX 84500000 86200000 Deletion Choroideremia CGH 18385043 chrX 84513298 84515355 Cn loss Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrX 8451577 8461654 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8452297 8464146 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8452297 8464146 Copy number gain Normal High-resolution SNP genotyping 21211785 chrX 8452297 8466357 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8452297 8471631 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8456914 8660227 Deletion Mental retardation PCR 20877625 chrX 8459029 8481499 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8459620 9401315 LOH Normal High-resolution SNP genotyping 21211785 chrX 84615783 86076219 LOH Normal High-resolution SNP genotyping 21211785 chrX 8461654 22225401 LOH Normal High-resolution SNP genotyping 21211785 chrX 8461654 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8464146 12772541 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 20026394 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8464146 20045900 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 20051946 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 20054617 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 23204284 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 27835783 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 37432727 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 52680086 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8464146 54856492 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8464146 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8464146 9316966 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8464146 9316966 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 9332929 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 9334554 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8464146 9334554 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 9336466 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8464146 9336466 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 9341365 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 9401315 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 9551380 LOH Normal High-resolution SNP genotyping 21211785 chrX 8464146 9566114 LOH Normal High-resolution SNP genotyping 21211785 chrX 8466357 57719679 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8466357 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8466357 9332929 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8466357 9332929 LOH Normal High-resolution SNP genotyping 21211785 chrX 8466357 9334554 LOH Normal High-resolution SNP genotyping 21211785 chrX 8466357 9551380 LOH Normal High-resolution SNP genotyping 21211785 chrX 84669168 84669268 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 8471631 11065597 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 11148137 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 15247037 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 20051946 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 20054617 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 27835783 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 39589431 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8471631 39589431 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 44185062 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8471631 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 54858322 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8471631 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8471631 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 9316966 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8471631 9316966 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 9334554 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8471631 9334554 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 9401315 LOH Normal High-resolution SNP genotyping 21211785 chrX 8471631 9619449 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8471631 9619449 LOH Normal High-resolution SNP genotyping 21211785 chrX 84761001 84765000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 84765001 88470000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 8477577 8491524 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 8481499 11034288 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 11034288 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 12775199 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 15211499 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 20026394 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 20054617 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 38813003 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 44185062 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 48049664 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 48631533 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 49004847 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 52680086 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 9316966 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 9316966 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9334554 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 8481499 9334554 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9341365 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9401315 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9430550 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9551380 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9566114 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9576802 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9584328 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9585562 LOH Normal High-resolution SNP genotyping 21211785 chrX 8481499 9619449 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 84818408 84818471 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 84859471 84859733 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 84922331 85108711 Gain and loss Pancreatic cancer SNP array 17952125 chrX 84964786 84964857 Gain and loss Pancreatic cancer SNP array 17952125 chrX 85080757 85080861 Gain and loss Pancreatic cancer SNP array 17952125 chrX 85080757 85080862 Gain and loss Pancreatic cancer SNP array 17952125 chrX 85145864 85147008 Gain and loss Pancreatic cancer SNP array 17952125 chrX 85209770 85893750 Gain and loss Pancreatic cancer SNP array 17952125 chrX 85221380 85222508 Gain and loss Pancreatic cancer SNP array 17952125 chrX 85244860 85244917 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 85289850 85289950 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 85395213 85425587 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 85397542 85419439 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 85399545 85426554 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 85406981 85442166 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 85408268 85439010 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 85424426 85424737 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 85447815 85447900 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 85475973 85476073 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 85489801 85498100 Deletion Glioma mate-paired sequence 20126413 chrX 85491828 85496519 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 85492833 85497330 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 85525834 85851245 Gain Mental retardation Affymetrix GeneChip Human Mapping 262K NspI 20486941 chrX 85611697 85611769 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 856373 856677 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 8568578 8579160 Gain and loss Pancreatic cancer SNP array 17952125 chrX 85765417 85765736 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 85851855 87628392 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 85863828 86529701 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chrX 85894086 85894205 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 85954126 85986186 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 86024349 86024399 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 86058124 86058224 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 8611093 8611616 Microdeletion Immune disease Affymetrix Genome-Wide Human SNP Array 6.0 platform 21042300 chrX 86114537 86188283 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 8612924 8613985 Microdeletion Immune disease Affymetrix Genome-Wide Human SNP Array 6.0 platform 21042300 chrX 86165707 86166789 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 86171353 86171453 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 86173431 86173882 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 86188283 88346142 LOH Normal High-resolution SNP genotyping 21211785 chrX 86200000 154913754 Gain Acute lymphoblastic leukemia array CGH 17690704 chrX 86207881 86207951 Gain and loss Pancreatic cancer SNP array 17952125 chrX 86207881 86207952 Gain and loss Pancreatic cancer SNP array 17952125 chrX 86271475 86271569 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 86430000 86800000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 86458386 86458441 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 86532839 87988718 LOH Normal High-resolution SNP genotyping 21211785 chrX 86558261 86573537 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 86565156 86576670 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 86578914 86731195 Gain and loss Pancreatic cancer SNP array 17952125 chrX 86584495 86584545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 86587469 86587549 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 86652224 90284608 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 86672614 86672646 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 86673921 86707965 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 86689718 86701847 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 86697990 86698070 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 86 7505 Duplication Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 86764488 86765375 Gain and loss Pancreatic cancer SNP array 17952125 chrX 86823290 86823390 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 8698776 8698876 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 86988935 86989035 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 8709473 8743407 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 87250624 87285148 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 87404320 87404420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 87418818 87418918 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 87470348 87518229 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 87474346 87520618 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 87491151 88740817 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 87518229 88345452 LOH Normal High-resolution SNP genotyping 21211785 chrX 87520618 88243707 LOH Normal High-resolution SNP genotyping 21211785 chrX 87545356 87547590 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 87581689 88091482 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chrX 87629714 87630009 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 87808396 87815926 Gain and loss Pancreatic cancer SNP array 17952125 chrX 87921415 87921515 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 87951064 87982154 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 87951516 87982154 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 87966780 88361566 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 88019923 88021816 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 8802009 8811904 Gain and loss Pancreatic cancer SNP array 17952125 chrX 8807665 8841877 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 88199146 88199221 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 88239398 88239533 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 88244250 88244350 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 88330836 88702538 Copy number Alcoholism Illumina Human Hap696W-Quad BeadChip 21790672 chrX 88344019 92264865 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 88345452 92264865 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 88345452 92332123 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 88346142 88535282 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 88352639 88490832 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88352639 88491424 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88354505 88405093 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88354505 88475616 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88354505 88712411 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88354977 88470473 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88369331 88405093 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88369331 88491424 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88369331 88528021 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88369331 88571278 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88369331 88583010 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88378126 88503412 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88378468 88490913 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88378468 88491424 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88378468 88503412 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88378468 88504883 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88378468 88528021 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88378468 88724786 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88443818 88446538 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 88455113 88503412 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88470001 88473000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 88473001 89013500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 88508702 91291323 Deletion Intellectual disability Array CGH 22102821 chrX 88535282 121744507 LOH Normal High-resolution SNP genotyping 21211785 chrX 88541964 88542051 Gain and loss Pancreatic cancer SNP array 17952125 chrX 88560513 88797104 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88768562 89100061 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88779064 89168272 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88801174 92234764 Loss or gain Normal 244K array 17666407 chrX 88840949 89404929 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 88881245 89150023 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88881245 89158865 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88882599 88884729 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 88888286 88926615 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88888286 88941051 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88888286 89087278 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88888286 89100061 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88888286 89118489 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88888286 89122557 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88888286 89150023 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88888286 89158865 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88901203 88926615 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88901203 89150023 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88901203 89158865 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88901674 89150023 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88901674 89158865 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88983070 88984025 Gain and loss Pancreatic cancer SNP array 17952125 chrX 88988822 89163219 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 88995961 88996166 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 89013501 89016000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 89016001 90223000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 89022317 89150023 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89022317 89158865 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 8911606 8911723 Gain and loss Pancreatic cancer SNP array 17952125 chrX 8911606 8911725 Gain and loss Pancreatic cancer SNP array 17952125 chrX 89260661 89673776 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 89280078 89280140 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 89288767 89289179 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 89316378 89347581 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 89318264 89327813 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 89321566 89354413 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 89324926 89325026 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 89327005 89340423 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 89327378 89352092 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 89335270 89335302 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 89335820 89340995 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 89404929 95129326 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 8941336 8941421 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 89465022 89467032 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 89609426 89742264 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89628819 89736603 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89628819 89751355 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89628819 89756910 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89658379 89658484 Gain and loss Pancreatic cancer SNP array 17952125 chrX 89774481 89790327 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89774481 89794681 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89776634 89798152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89780570 89785073 Deletion Medulloblastoma Illumina SNP arrays 21163964 chrX 89781692 89794681 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89781692 89798152 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89781692 89821521 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89781692 89850081 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89781692 89873271 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89781692 89888533 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89789942 89831490 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89789942 89850081 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89789942 89888533 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 89794824 89794954 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 89910513 89941976 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 89957981 90252381 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 9000480 76266264 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrX 90036093 90183699 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 90119922 90624992 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 90119922 90624992 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 90119922 90624992 LOH Normal High-resolution SNP genotyping 21211785 chrX 90119922 90646981 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 90119922 90646981 LOH Normal High-resolution SNP genotyping 21211785 chrX 90142632 90624992 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 90142632 90646981 LOH Normal High-resolution SNP genotyping 21211785 chrX 90170016 90170726 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 90222177 90278224 Copy number Sinonasal adenocarcinoma Microarray CGH 21360264 chrX 90223001 90225000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 90225001 92719500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 90495742 90499727 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9053030 9053079 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 90533925 90534094 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 90541059 90541131 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 90578089 90578089 Copy number Prostate cancer Illumina GA II sequencer 21307934 chrX 90637112 90855156 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 90675065 90675165 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 90726319 90727092 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 90823790 92696738 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 90840449 91680084 Gain and loss Pancreatic cancer SNP array 17952125 chrX 90853123 91313739 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 90858533 90943592 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 90859237 90859424 Gain and loss Pancreatic cancer SNP array 17952125 chrX 90859237 90859427 Gain and loss Pancreatic cancer SNP array 17952125 chrX 90907046 91253862 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 90920959 91764882 Deletion Mental retardation PCR 20877625 chrX 91048774 91232842 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91052975 91151194 Copy number Congenital anomalies of the kidney and urinary tract BAC array CGH platform, Oligo array CGH platform 18316590 chrX 91077651 91316310 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91095722 91222067 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91095722 91313739 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91158912 91222067 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91158912 91232487 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91158912 91262359 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91158912 91313739 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91158912 91314729 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91174397 91175374 Gain and loss Pancreatic cancer SNP array 17952125 chrX 91243352 118381854 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 91243352 91509039 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 91254192 91255451 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 9138826 9310156 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 91430840 91430940 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 91456702 91710179 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91461953 91613844 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91520811 91522063 Gain and loss Pancreatic cancer SNP array 17952125 chrX 91528207 91674583 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91528207 91710179 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91528207 91777009 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91564790 91566749 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 91565635 91566714 Copy number Alcoholism Illumina Human Hap710W-Quad BeadChip 21790672 chrX 91645119 91645255 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 9176130 9190315 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 91777765 91867195 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91777765 91943542 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91781481 91781624 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 9179250 9184731 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 9179593 9179729 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9179854 9194672 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 9179871 9180240 Gain and loss Pancreatic cancer SNP array 17952125 chrX 91803134 92010345 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91803134 92021247 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91820937 91867195 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91820937 91947433 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91827344 92010345 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 9182992 9184018 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 9183217 9183922 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 9183530 9203614 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 9183592 9184622 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 9183667 9185005 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 91881403 92005980 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 91995761 94960085 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 92012354 92012479 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 9208001 9360000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 92127282 92243399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 92135060 92243399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 92177359 92243399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 92185337 92243399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 92190298 92224248 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 92190298 92243399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 92190298 92245525 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 92190866 92243399 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 9224216 9224290 Gain and loss Pancreatic cancer SNP array 17952125 chrX 92264865 100802617 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 100904209 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 101296213 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 101296213 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 101300408 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 101446624 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 101474687 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 101480487 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 101481054 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 101486498 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 101515462 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 102206231 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 102923942 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 107992046 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 108071172 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 112621688 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 115086236 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 118025647 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 118381854 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 118391678 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 118391678 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 119348560 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 121744507 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 121760172 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 121779551 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 128023226 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 131587855 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 131589419 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 133973631 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 134142544 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 134214928 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 134668338 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 136672079 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 140499010 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 140637131 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 140653112 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 141143310 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 145860077 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 151599726 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 154571925 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 154597510 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92264865 93691265 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 94176138 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 94209385 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 94233415 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 94245308 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 94305880 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 94332553 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 94344748 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 94370468 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 95186957 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 95201325 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 97843079 LOH Normal High-resolution SNP genotyping 21211785 chrX 92264865 99416094 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 100050484 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 100584873 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 101296213 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 101414028 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 101515462 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 115052342 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 118381854 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 130826545 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 132921955 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 134668338 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 140659765 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 154583011 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 154592245 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 154608206 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 154614766 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92275863 93691265 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 94245308 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 94332553 LOH Normal High-resolution SNP genotyping 21211785 chrX 92275863 94344748 LOH Normal High-resolution SNP genotyping 21211785 chrX 92301277 100584873 LOH Normal High-resolution SNP genotyping 21211785 chrX 92301277 115029260 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92301277 118381854 LOH Normal High-resolution SNP genotyping 21211785 chrX 92301277 140653112 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92301277 140671177 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 92301277 93691265 LOH Normal High-resolution SNP genotyping 21211785 chrX 92301277 95211827 LOH Normal High-resolution SNP genotyping 21211785 chrX 92307510 101515462 LOH Normal High-resolution SNP genotyping 21211785 chrX 92307510 96956159 LOH Normal High-resolution SNP genotyping 21211785 chrX 92313576 93689982 LOH Normal High-resolution SNP genotyping 21211785 chrX 92313576 93691265 LOH Normal High-resolution SNP genotyping 21211785 chrX 92313576 94422459 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 100861831 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 101474687 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 104342083 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 112621688 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 93691265 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 93712386 LOH Normal High-resolution SNP genotyping 21211785 chrX 92332123 94245308 LOH Normal High-resolution SNP genotyping 21211785 chrX 92390816 92762114 Copy number Alcoholism Illumina Human Hap711W-Quad BeadChip 21790672 chrX 92409730 92409847 Gain and loss Pancreatic cancer SNP array 17952125 chrX 92412374 92412464 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9242775 9497513 Gain and loss Pancreatic cancer SNP array 17952125 chrX 92491432 92495651 Gain and loss Pancreatic cancer SNP array 17952125 chrX 92491895 92493443 Gain and loss Pancreatic cancer SNP array 17952125 chrX 92504781 92504851 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 92517274 92517374 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 92597595 92647575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 92630305 92630403 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 92659300 92691813 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 92665096 92698183 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 92666943 92709274 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 92668322 92719844 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 92682949 92742606 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 92682953 92688160 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 92691813 101656236 LOH Normal High-resolution SNP genotyping 21211785 chrX 92691813 94245308 LOH Normal High-resolution SNP genotyping 21211785 chrX 92696738 94484552 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 92698183 94963212 LOH Normal High-resolution SNP genotyping 21211785 chrX 92709274 101296213 LOH Normal High-resolution SNP genotyping 21211785 chrX 92709274 101300408 LOH Normal High-resolution SNP genotyping 21211785 chrX 92709274 101515462 LOH Normal High-resolution SNP genotyping 21211785 chrX 92709274 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 92709274 94209385 LOH Normal High-resolution SNP genotyping 21211785 chrX 92709274 94245308 LOH Normal High-resolution SNP genotyping 21211785 chrX 92719501 92723000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 92719844 94245308 LOH Normal High-resolution SNP genotyping 21211785 chrX 92723001 94977000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 92732928 92734448 Gain and loss Pancreatic cancer SNP array 17952125 chrX 92742606 101482385 LOH Normal High-resolution SNP genotyping 21211785 chrX 92742606 115488600 LOH Normal High-resolution SNP genotyping 21211785 chrX 92770459 92773406 Gain and loss Pancreatic cancer SNP array 17952125 chrX 92777155 92777255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 92815860 92853917 Amplification Melanoma Comparative genomic arrays (CGH) 20877625 chrX 92876887 92909216 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 93054416 93055051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 93064977 93065066 Gain and loss Pancreatic cancer SNP array 17952125 chrX 93131707 93134941 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 9316966 9338435 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 93188190 93188290 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 93239149 93239247 Gain and loss Pancreatic cancer SNP array 17952125 chrX 93239149 93239248 Gain and loss Pancreatic cancer SNP array 17952125 chrX 93287571 93291377 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 9332929 9340765 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9334554 9341365 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9336466 9345001 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 93380303 93380411 Gain and loss Pancreatic cancer SNP array 17952125 chrX 93380494 93381117 Gain and loss Pancreatic cancer SNP array 17952125 chrX 93380740 93380988 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9338435 11148137 LOH Normal High-resolution SNP genotyping 21211785 chrX 9338435 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 9338435 20039129 LOH Normal High-resolution SNP genotyping 21211785 chrX 9338435 31992422 LOH Normal High-resolution SNP genotyping 21211785 chrX 9338435 32206651 LOH Normal High-resolution SNP genotyping 21211785 chrX 9338435 41186104 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9338435 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9338435 9573417 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9340765 20047978 LOH Normal High-resolution SNP genotyping 21211785 chrX 9340765 20051946 LOH Normal High-resolution SNP genotyping 21211785 chrX 9340765 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 9340765 39589431 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9340765 39589431 LOH Normal High-resolution SNP genotyping 21211785 chrX 9340765 48634042 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9340765 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 9340765 53239102 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9340765 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9341365 16447800 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 20054617 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 25853787 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 44185062 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9341365 44544854 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9341365 47769552 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9341365 47769552 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 47918972 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9341365 53215985 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9341365 53215985 LOH Normal High-resolution SNP genotyping 21211785 chrX 9341365 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9341365 9402542 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9341365 9454308 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9341365 9619449 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9345001 49004847 LOH Normal High-resolution SNP genotyping 21211785 chrX 9345001 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 93451625 93451949 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 9359389 9404031 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 9360001 10152000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 936501 1116750 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 93665983 93699085 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 93689982 93838048 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 93691265 93860035 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 93712386 93871744 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 93845732 93845832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 93860035 134560447 LOH Normal High-resolution SNP genotyping 21211785 chrX 939827 940836 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9401315 9454308 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94055758 94055828 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 94088591 94088650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 94166475 94166575 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 94168663 94168728 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 94176138 94258130 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94209385 94288754 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94245308 94326225 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94245308 94344748 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94245308 94481700 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94245308 94704867 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94258130 100584873 LOH Normal High-resolution SNP genotyping 21211785 chrX 94258130 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 94288754 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 9430550 9458888 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94305880 94365318 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9430715 9460712 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 94312441 100584873 LOH Normal High-resolution SNP genotyping 21211785 chrX 94326225 101300408 LOH Normal High-resolution SNP genotyping 21211785 chrX 94326225 101331897 LOH Normal High-resolution SNP genotyping 21211785 chrX 94326225 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 94326225 95186957 LOH Normal High-resolution SNP genotyping 21211785 chrX 94327205 94327255 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 94332553 94481700 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94338263 94338469 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 94344748 101515462 LOH Normal High-resolution SNP genotyping 21211785 chrX 94344748 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 94344748 94481700 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94365318 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 94370468 94521082 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94386331 94448987 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 94422459 94534600 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94422459 95549087 LOH Normal High-resolution SNP genotyping 21211785 chrX 9447577 9486447 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94481700 100584873 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 100909782 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 101296213 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 101297252 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 101300408 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 101303025 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 101331897 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 101366409 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 101399004 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 101482385 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 115040156 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 130826545 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 140653112 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 140671177 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 142955860 LOH Normal High-resolution SNP genotyping 21211785 chrX 94481700 95315873 LOH Normal High-resolution SNP genotyping 21211785 chrX 9450702 9553567 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94519150 94519509 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 94521082 97879069 LOH Normal High-resolution SNP genotyping 21211785 chrX 94534600 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454308 14802229 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454308 15211499 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454308 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454308 20039129 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454308 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454308 20054617 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454308 44185062 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454308 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 9454329 9652249 Deletion Mental retardation - 20877625 chrX 9458888 14802229 LOH Normal High-resolution SNP genotyping 21211785 chrX 9458888 15247037 LOH Normal High-resolution SNP genotyping 21211785 chrX 9458888 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 94641106 94659578 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 94643208 94643297 Gain and loss Pancreatic cancer SNP array 17952125 chrX 94643212 94643307 Gain and loss Pancreatic cancer SNP array 17952125 chrX 94645453 94646078 Gain and loss Pancreatic cancer SNP array 17952125 chrX 94652635 94652735 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 94704867 101300408 LOH Normal High-resolution SNP genotyping 21211785 chrX 94722978 94723078 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 94781412 94781412 Insertion Non-syndromic sensorineural hearing loss nineteen different SV discovery algorithms 21293372 chrX 9484049 9649608 Deletion Mental retardation - 20877625 chrX 9486447 15247037 LOH Normal High-resolution SNP genotyping 21211785 chrX 94932922 94947252 Copy number Alcoholism Illumina Human Hap687W-Quad BeadChip 21790672 chrX 94935701 94940100 Deletion Glioma mate-paired sequence 20126413 chrX 94937505 94938137 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chrX 94959901 95009774 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94963212 95019480 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 94977001 94979000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 94979001 97170000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 9500000 17100000 Copy number Normal - 21701786 chrX 9500000 29400000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 95001985 95002085 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95009774 104361029 LOH Normal High-resolution SNP genotyping 21211785 chrX 95019480 100584873 LOH Normal High-resolution SNP genotyping 21211785 chrX 9503190 9543741 Gain and loss Pancreatic cancer SNP array 17952125 chrX 95074647 95175395 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 95081358 95081451 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95084504 95084793 Gain and loss Pancreatic cancer SNP array 17952125 chrX 95092536 95126048 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 95107577 95126739 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 95108870 95129720 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 95111531 95133393 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 95151647 95151747 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95161684 95161744 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9517947 9553567 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 95181672 95256813 Gain Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 95186957 95244593 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 95190166 95190956 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 95201325 95272119 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 95211827 95280043 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 95215903 95230144 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrX 95226623 95226738 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95244593 101482385 LOH Normal High-resolution SNP genotyping 21211785 chrX 95244593 101486498 LOH Normal High-resolution SNP genotyping 21211785 chrX 95272119 101515462 LOH Normal High-resolution SNP genotyping 21211785 chrX 95280043 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 95282237 95282337 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95308346 95353637 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 95331992 95332079 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95339642 95339718 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9536809 9536909 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95410259 96869751 LOH Normal High-resolution SNP genotyping 21211785 chrX 95449404 96158854 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 95467714 98062022 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 95471694 95471926 Gain and loss Pancreatic cancer SNP array 17952125 chrX 95483201 100481865 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 9550000 9760000 Duplicationl Mental retardation Agilent G2565BA MicroArrayScanner System, the Genepix 4000B scanner 17406619 chrX 9551380 9576802 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9551380 9586761 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9551380 9638086 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9553567 16509490 LOH Normal High-resolution SNP genotyping 21211785 chrX 9553567 20047978 LOH Normal High-resolution SNP genotyping 21211785 chrX 95546689 95546789 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95566715 95566815 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95585557 95585627 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9564232 9727217 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9566114 9587501 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9566114 9638086 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 95667619 95667719 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9573417 9594296 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 95745856 96660461 Gain and loss Pancreatic cancer SNP array 17952125 chrX 95762653 95762763 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9576802 39589431 LOH Normal High-resolution SNP genotyping 21211785 chrX 9576802 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 9576802 9600322 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 95806198 95806298 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 95812910 95879511 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chrX 9584328 9604908 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9585562 9638086 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 95861285 95861364 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9586761 47225981 LOH Normal High-resolution SNP genotyping 21211785 chrX 9587501 15211499 LOH Normal High-resolution SNP genotyping 21211785 chrX 9587501 16161031 LOH Normal High-resolution SNP genotyping 21211785 chrX 9587501 16570480 LOH Normal High-resolution SNP genotyping 21211785 chrX 9587501 20026394 LOH Normal High-resolution SNP genotyping 21211785 chrX 95893293 95893607 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 95936387 95949943 Gain Autism qPCR 20531469 chrX 9594296 14802229 LOH Normal High-resolution SNP genotyping 21211785 chrX 9594296 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9596090 9597251 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9600322 12772541 LOH Normal High-resolution SNP genotyping 21211785 chrX 9600322 15247037 LOH Normal High-resolution SNP genotyping 21211785 chrX 9604908 15211499 LOH Normal High-resolution SNP genotyping 21211785 chrX 96128706 96305170 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 96158854 96442634 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 9619449 9638086 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 96200779 96201008 Loss Normal 244K array 17666407 chrX 9638086 11650091 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 12772541 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 12774466 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 13252082 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 13309014 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 14769425 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 14802229 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 15211499 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 15247037 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 16169672 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9638086 16500095 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 18112435 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 20051946 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 20053929 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 32214985 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 41186104 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9638086 54836250 LOH Normal High-resolution SNP genotyping 21211785 chrX 9638086 59500000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrX 9638086 59500000 LOH Normal High-resolution SNP genotyping 21211785 chrX 96402191 96402488 Gain and loss Pancreatic cancer SNP array 17952125 chrX 96416917 96440980 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 96442634 98003424 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 9652379 9652477 Gain and loss Pancreatic cancer SNP array 17952125 chrX 96579010 96579212 Gain and loss Pancreatic cancer SNP array 17952125 chrX 96579208 96579351 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9658248 9658414 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 96600070 96688503 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 96663989 96678403 Gain and loss Pancreatic cancer SNP array 17952125 chrX 96672858 104057801 Copy number Non-syndromic sensorineural hearing loss Illumina HumanOmni1-Quad BeadChip 21987784 chrX 96716470 96716565 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 96736044 96742773 Gain Normal 244K array 17666407 chrX 96741719 96861762 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 96741719 96861762 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 96807079 96882081 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrX 96850000 112060000 Loss Breast cancer aCGH 21509527 chrX 96859273 96861413 Gain and loss Pancreatic cancer SNP array 17952125 chrX 96869751 96889822 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 9687950 9688050 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 96889822 108753895 LOH Normal High-resolution SNP genotyping 21211785 chrX 96908406 96910160 Gain and loss Pancreatic cancer SNP array 17952125 chrX 96989183 108061445 LOH Normal High-resolution SNP genotyping 21211785 chrX 97054555 97054959 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 97118083 97118154 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 97140219 97140299 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 97149332 97192808 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 97170001 97172000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 97172001 98856500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 9720059 9720199 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 97229984 97230016 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 97252546 97253276 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 97257920 97258051 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 97312098 97312198 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 97324065 99655855 LOH Normal High-resolution SNP genotyping 21211785 chrX 97356530 97384844 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 97379776 97379866 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9745134 9745739 Gain and loss Pancreatic cancer SNP array 17952125 chrX 97562488 97562588 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 97562763 97562832 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 97596585 97597181 Gain and loss Pancreatic cancer SNP array 17952125 chrX 97624549 97625278 Gain and loss Pancreatic cancer SNP array 17952125 chrX 97661774 123753774 Gain Multiple myeloma Human Genome CGH 44k microarrays 17550852 chrX 97674550 97674650 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 97742675 97788060 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 97843079 97916358 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 97867857 97895586 Deletion Non-syndromic sensorineural hearing loss Oxford_TGAC_EBI_ref_asis 21293372 chrX 97879069 97943265 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 97903937 97904243 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 97916358 100942751 LOH Normal High-resolution SNP genotyping 21211785 chrX 97916358 104290244 LOH Normal High-resolution SNP genotyping 21211785 chrX 97922951 97923039 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9793348 9922249 Gain and loss Pancreatic cancer SNP array 17952125 chrX 97943265 108071172 LOH Normal High-resolution SNP genotyping 21211785 chrX 97944468 97988973 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 98003424 101919588 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 98033738 99289286 Gain Pancreatic ductal adenocarcinoma Array CGH 19077451 chrX 98050773 98074594 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 98055239 98055335 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 98058554 98077904 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 98132945 98133045 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 98200000 102500000 Amplification Astrocytoma Affymetrix Genechip Mapping 250k kit and arrays 22246337 chrX 98200000 110500000 Copy number X-linked lissencephaly array-CGH 21569638 chrX 98200000 110500000 Deletion or duplication Pelizaeus-Merzbacher disease from references 18923514 chrX 98200000 110500000 Deletion or duplication Pelizaeus-Merzbacher disease high-density microarrays 22241247 chrX 98200000 110500000 Gain Cervical cancer Affymetrix 250K NspI single nucleotide polymorphism array platform 21062161 chrX 98200000 110500000 Loss Myxofibrosarcoma Array CGH 16751306 chrX 98200000 110500000 Microdeletion Pelizaeus-Merzbacher disease aCGH 22470819 chrX 98225785 98270432 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 98240222 98240254 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 98248781 98293698 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 98326124 98326305 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 9838998 9839097 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9838998 9839098 Gain and loss Pancreatic cancer SNP array 17952125 chrX 9849949 9850044 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 9860872 10041747 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrX 98672470 98674551 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 98710599 104660588 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrX 98722475 98722562 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 98780504 98782195 Gain and loss Pancreatic cancer SNP array 17952125 chrX 98844919 98845069 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 98856501 98863500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 98863501 98866000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 98866001 99548500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 98904314 98904413 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 98958826 98958926 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 99161227 99161354 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99161228 99161316 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99217026 99217917 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99287437 99332027 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 99293227 99498670 Deletion Mental retardation - 20877625 chrX 99300837 99300937 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 99313480 99358435 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 9934773 10013256 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99357057 99469740 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99372810 99372910 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 99416094 99577600 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrX 99433298 99551927 Copy number Autism exome sequencing 22495311 chrX 99547278 99555666 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 99548501 99553000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 99553001 100375000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrX 99571946 99572482 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrX 99577600 115504332 LOH Normal High-resolution SNP genotyping 21211785 chrX 99645975 99661022 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99649472 99649532 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 99689940 99697939 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99705370 99732436 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99735636 99793253 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99834385 99866871 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 998519 99812952 Copy number Autism exome sequencing 22495311 chrX 99881529 99902066 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99883754 99883886 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99883755 99883886 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99895611 99895706 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrX 99904970 99935343 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99916428 99949689 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99919105 99952075 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrX 99971830 99972625 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99974581 99990043 Gain and loss Pancreatic cancer SNP array 17952125 chrX 99997039 102084994 LOH Normal High-resolution SNP genotyping 21211785 chrX|Y 1274886 1687565 Copy number Acute lymphoblastic leukemia FISH 22368272 chrX|Y 1347700 1388827 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chrX|Y 1415508 1461582 Copy number Acute lymphoblastic leukemia Affymetrix SNP 6.0 or 500K arrays 19039135 chrX|Y 1541465 1616000 Copy number Lung cancer - 20668451 chrX|Y 1541465 1616000 Gain or loss Breast cancer - 20668451 chrX|Y 1541465 1616000 Gain or loss Cancer - 20668451 chrX|Y 1541465 1616000 Gain or loss Lung cancer - 20668451 chrX|Y 1541465 1616000 Gain or loss Ovarian cancer - 20668451 chrX|Y 1541465 1616000 Gain or loss Pancreas cancer - 20668451 chrX|Y 1541465 1616000 Gain or loss Prostate cancer - 20668451 chrX|Y 1674276 1721974 Duplication Autism Multiplex ligation-dependent probe amplification 18925931 chrY 10002731 18080874 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 10071001 10074500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10074501 10483000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10263751 16802371 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 10384614 13302392 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 10384614 16754393 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 10384614 16802371 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 10398342 16630994 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 10432535 10606345 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 10432535 10697914 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 10483001 10486500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10486501 10516000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10516001 10518500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10518501 10536500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10536501 10539000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10537298 10697914 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 10539001 10629000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10629001 10640000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 10640001 11247000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 11247001 11656500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 11300000 12495109 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 11300000 12495109 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 11300000 12495109 LOH Normal High-resolution SNP genotyping 21211785 chrY 11300000 12507424 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 11300000 12507424 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 11300000 12507424 LOH Normal High-resolution SNP genotyping 21211785 chrY 11300000 12545424 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 11300000 12545424 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 11300000 12545424 LOH Normal High-resolution SNP genotyping 21211785 chrY 11300000 13085948 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 11300000 13085948 LOH Normal High-resolution SNP genotyping 21211785 chrY 11300000 19000000 Loss Breast cancer aCGH 21045282 chrY 11300000 27200000 Deletion infertility PCR 21340528 chrY 11300000 27200000 Microdeletio infertile multiplex PCR 16612480 chrY 11300000 27200000 Microdeletio Klinefelter syndrome multiplex PCR 16612480 chrY 11300000 27200000 Microdeletion infertile PCR 18720745 chrY 11300000 27200000 Microdeletion infertile References 16469004 chrY 11300000 27200000 Microdeletion infertility - 18832950 chrY 11300000 27200000 Microdeletion Recurrent pregnancy loss Quiagen Multiplex PCR 20943704 chrY 11300000 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 11300000 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 11300000 57772954 Loss Hereditary coagulopathy SNP arrays 6.0 21993689 chrY 11300000 57772954 Microdeletio Azoospermia quantitative RT 16709604 chrY 11300000 57772954 Microdeletion Astheno-teratozoospermia syndrome scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.6;polymerase chain reactions (PCR) 22371775 chrY 11300000 57772954 Microdeletion Asthenozoospermia scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.7;polymerase chain reactions (PCR) 22371775 chrY 11300000 57772954 Microdeletion Azoospermia scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.2;polymerase chain reactions (PCR) 22371775 chrY 11300000 57772954 Microdeletion infertile - 17554051 chrY 11300000 57772954 Microdeletion infertile PCR 19966830 chrY 11300000 57772954 Microdeletion Klinefelter syndrome Multiplex PCR 20805717 chrY 11300000 57772954 Microdeletion Non-syndromic sensorineural hearing loss PCR 18200580 chrY 11300000 57772954 Microdeletion Oligoasthenoteratozoospermia scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.3;polymerase chain reactions (PCR) 22371775 chrY 11300000 57772954 Microdeletion Oligoasthenozoospermia scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.5;polymerase chain reactions (PCR) 22371775 chrY 11300000 57772954 Microdeletion Oligoteratozoospermia scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.4;polymerase chain reactions (PCR) 22371775 chrY 11300000 57772954 Microdeletions infertile oligozoospermic PCR 17712493 chrY 11300000 57772954 Microdeletion subfertile scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.0;polymerase chain reactions (PCR) 22371775 chrY 11300000 57772954 Microdeletion subfertile scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.1;polymerase chain reactions (PCR) 22371775 chrY 11300000 57772954 Microdeletion Teratozoospermia scrotal colour-Doppler ultrasound (CDU);Promega Y-Chromosome Deletion Detection System Version 2.8;polymerase chain reactions (PCR) 22371775 chrY 11656501 11668500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 11668501 11689500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 11689501 11711500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 11711501 11906500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 11906501 11920000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 11920001 11950500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 11950501 12045000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12045001 12046500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12046501 12051000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12051001 12057000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12057001 12106000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12071444 12413492 Gain Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrY 12106001 12318000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12318001 12380500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12380501 12584000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12443704 12507424 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 12495109 23558369 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 12495109 23558369 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 12495109 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 12495109 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 12500000 14300000 Deletion infertile References 20089613 chrY 12507424 18077413 Copy number gain Normal High-resolution SNP genotyping 21211785 chrY 12507424 18077413 LOH Normal High-resolution SNP genotyping 21211785 chrY 12507424 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 12507424 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 12545424 23558369 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 12545424 23558369 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 12545424 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 12545424 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 12584001 12586500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12586501 13163000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 12718832 12718897 Deletion Non-syndromic sensorineural hearing loss WashU 21293372 chrY 1 27200000 Chromosomal abnormalities Testicular failure FISH 20966427 chrY 12917712 12935912 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrY 13085948 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 13085948 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 13163001 13165000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 13165001 13244500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 1317001 1481000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 13244501 19697000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 1 3300000 Rearrangement Acute lymphoblastic leukemia FISH 20139093 chrY 13303690 16798399 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 13322553 13482162 Deletion infertile Y Chromosome Deletion Detection System, version 1.1 18676362 chrY 13322553 13482162 Gain or loss Breast cancer - 20668451 chrY 13322553 13482162 Gain or loss Cancer - 20668451 chrY 13322553 13482162 Gain or loss Lung cancer - 20668451 chrY 13322553 13482162 Gain or loss Ovarian cancer - 20668451 chrY 13322553 13482162 Gain or loss Pancreas cancer - 20668451 chrY 13322553 13482162 Gain or loss Prostate cancer - 20668451 chrY 13322553 13482162 Microdeletion infertile References 22138898 chrY 13322553 13482162 Microdeletion Klinefelter syndrome FSH 16372123 chrY 13464551 13464593 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 1347700 1388827 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 chrY 13525412 13541784 Microdeletion impairment of spermatogenesis PCR 17881721 chrY 13526092 13541784 Microdeletion infertile References 22138898 chrY 1355172 1396299 Gain and loss Pancreatic cancer SNP array 17952125 chrY 1 382500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 1415508 1461582 Deletion Acute lymphoblastic leukemia 250K Sty and Nsp single nucleotide polymorphism arrays 20699438 chrY 14300000 27200000 Loss Honadal dysgenesis oligo V6.2 21048976 chrY 1465044 1470998 Gain Ovarian cancer Agilent 180 K CGH microarrays 21781307 chrY 1481001 1488000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 14875604 14989247 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 1488001 1597000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 14989247 22530893 LOH Normal High-resolution SNP genotyping 21211785 chrY 1499188 1545408 Gain and loss Pancreatic cancer SNP array 17952125 chrY 1548872 1554821 Gain and loss Pancreatic cancer SNP array 17952125 chrY 1564816 1576662 Gain and loss Pancreatic cancer SNP array 17952125 chrY 1565859 1615649 Gain and loss Pancreatic cancer SNP array 17952125 chrY 1 57772954 Absence of second sex chromosome Honadal dysgenesis References 22138850 chrY 1 57772954 Deleted severe oligozoospermia and azoospermia PCR 19731213 chrY 1 57772954 Deletion Ewing's sarcoma CGH(Reference) 21437220 chrY 1 57772954 Deletion infertility - 21210740 chrY 1 57772954 Deletion Klinefelter syndrome PCR 17968468 chrY 1 57772954 Gain Glioblastoma multiforme conventional CGH 21080181 chrY 1 57772954 Loss Esophageal squamous carcinoma CGH 21637470 chrY 1 57772954 Loss Glioblastoma multiforme conventional CGH 21080181 chrY 1 57772954 Microdeletion Azoospermia multiplex PCR 16445861 chrY 1 57772954 Microdeletion Cryptorchidism PCR 16988323 chrY 1 57772954 Microdeletion infertile FISH 20603812 chrY 1 57772954 Microdeletion infertile References 22120929 chrY 1 57772954 Microdeletion infertile Resequencing 19369647 chrY 1 57772954 Microdeletion infertility - 20668881 chrY 1 57772954 Microdeletion Klinefelter syndrome PCR 20603808 chrY 1 57772954 Microdeletion Meiotic abnormalities - 17428878 chrY 1 57772954 Microdeletion Non-syndromic sensorineural hearing loss PCR 17409464 chrY 1 57772954 Microdeletion Oligozoospermia - 20576090 chrY 1 57772954 Microdeletions Azoospermia - 17187159 chrY 1 57772954 Microdeletions infertile FISH 19440834 chrY 1 57772954 Microdeletions Oligozoospermia - 17187159 chrY 1 57772954 Microdeletion spermatozoa with elongated heads FISH 17208942 chrY 1597001 1610000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 16005400 16526217 Inversion Melanoma Affymetrix SNP 6.0 array 22183965 chrY 16035181 16439326 Deletion Cancer CGH 22183965 chrY 16035181 16439326 Deletion Melanoma Affymetrix SNP 6.0 array 22183965 chrY 1610001 1653500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 1625295 1699827 Gain and loss Pancreatic cancer SNP array 17952125 chrY 1653501 1661500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 1661501 1752000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 16778774 17042176 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 16778774 17042176 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 169542 57728335 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 169542 6161425 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 169542 6170498 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 17042176 19267919 LOH Normal High-resolution SNP genotyping 21211785 chrY 17042729 17987401 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 17042729 18080026 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 17043997 18080026 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 17043997 18080874 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 17043997 18093085 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 174481503 174538309 Deletion infertile multiplex PCR analysis 17580535 chrY 174481503 174538309 Deletion Spermatogenic Failure PCR 22514689 chrY 174481503 174538309 Deletion Testicular cancer PCR 17682003 chrY 174481503 174538309 Microdeletion Azoospermia PCR 16372117 chrY 174481503 174538309 Microdeletion Azoospermia PCR 21209805 chrY 174481503 174538309 Microdeletion infertile multi-analyte suspension array technology 18958351 chrY 174481503 174538309 Microdeletion infertile PCR 17213277 chrY 174481503 174538309 Microdeletion infertile two-step sequence-tagging site (STS) 17158590 chrY 174481503 174538309 Microdeletion infertility PCR 18953646 chrY 174481503 174538309 Microdeletion Non-small cell lung cancer - 17429853 chrY 174481503 174538309 Microdeletion Non-syndromic sensorineural hearing loss PCR 20589193 chrY 174481503 174538309 Microdeletion normozoospermic PCR 16372117 chrY 174481503 174538309 Microdeletion severe oligozoospermic PCR 16372117 chrY 174481503 174538309 Microdeletions infertility - 20425140 chrY 174481503 174538309 Microdeletions infertility PCR, DNA sequencing 18326547 chrY 1752001 2538000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 1754313 1765236 Gain and loss Pancreatic cancer SNP array 17952125 chrY 17614506 17614538 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 1777895 1805800 Gain and loss Pancreatic cancer SNP array 17952125 chrY 18077413 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 18077413 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 18247335 18247435 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 18390253 18758303 Microdeletion Klinefelter syndrome FSH 16372123 chrY 19000000 25400000 Loss Breast cancer aCGH 21045282 chrY 19062951 19393189 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 1926665 1927723 Gain and loss Pancreatic cancer SNP array 17952125 chrY 19267919 19400785 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 19267919 19400785 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 19400785 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 19484450 22268551 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 19484450 22404176 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 19484450 22426993 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 19484450 22427755 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 1 9500000 Microdeletion Steroid sulfatase deficiency aCGH 22470819 chrY 19564844 19613834 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 19603741 19646021 Gain Normal BAC array 16365383 chrY 19613834 22782396 LOH Normal High-resolution SNP genotyping 21211785 chrY 19638276 19645782 Gain Normal BAC array 16365383 chrY 19697001 19699500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 19699501 20327500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 19788522 19830805 Gain Normal BAC array 16365383 chrY 19788761 19796267 Gain Normal BAC array 16365383 chrY 20327501 20329500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 20329501 20511500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 20511501 20765000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 20750000 25550000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chrY 20765001 20821000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 20821001 21976000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 20831369 20831449 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 20925958 502114389 Copy number Normal Quantitative Real-Time PCR 17666543 chrY 21300000 25400000 Deletion Mental retardation array-CGH 17901693 chrY 21340792 21500274 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 21340792 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 21500274 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 21771803 22937953 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 21938623 21938723 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 21951675 22097515 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 21951675 22332553 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 21951675 22516568 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 21951675 22801348 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 21951675 22937953 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 21964794 22058959 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrY 21976001 21981000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 21981001 22036000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22036001 22040000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22040001 22157500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22157501 22177000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22177001 22375000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22375001 22566500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22530893 22807643 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 22566501 22850000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22617025 22801348 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 22617025 22937953 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 22706388 22706420 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 22758450 22758550 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 22775814 22850904 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 22775814 22850904 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 22780666 23283889 Loss XY gonadal dysgenesis 105A Agilent array CGH 20685758 chrY 22782396 22850904 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 22782396 22850904 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 22807643 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 22850001 22854000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22850904 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 22854001 22860500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22860501 22864500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22864501 26958000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 22934254 26842096 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23061970 25187705 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 23061970 26872067 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 23061970 26872067 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 23113433 23620119 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23113433 23920403 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23113433 24253006 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23113433 26842096 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23158795 23620119 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23158795 23920403 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 2320148 2412369 Gain and loss Pancreatic cancer SNP array 17952125 chrY 23215094 24253006 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23215094 24253006 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23215094 24713457 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23215094 26842096 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23220646 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 23310583 25649692 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 23310583 25649692 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 23345451 23345545 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 23346175 24069433 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23346175 24069433 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23346175 24253006 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23346175 24253006 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 23407118 25740308 Copy number Infertility real-time PCR assay 21898105 chrY 23472800 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 23488852 23488935 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 23539797 25607639 Copy number Infertility real-time PCR assay 21898105 chrY 23539797 25607639 Deletion Azoospermia qPCR 21429917 chrY 23539797 25607639 Deletion infertile Y Chromosome Deletion Detection System, version 1.1 18676362 chrY 23558369 27227445 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 23558369 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 23558369 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 23684889 23754627 Copy number Infertility real-time PCR assay 21898105 chrY 23684889 23754627 Deletion Azoospermia qPCR 21429917 chrY 23684889 23754627 Deletion infertile Y Chromosome Deletion Detection System, version 1.1 18676362 chrY 23684889 23754627 Duplication infertile Quantitative PCR assays 21852246 chrY 23684889 23754627 Microdeletion impairment of spermatogenesis PCR 17881721 chrY 23684889 25462570 Duplication infertile Quantitative PCR assays 21852246 chrY 23684889 25462570 Microdeletion infertile multiplex PCR systems 19088127 chrY 23775009 25462570 Duplication infertile Quantitative PCR assays 21852246 chrY 23775009 25462570 Microdeletion infertile multiplex PCR systems 19088127 chrY 24492261 26288923 Copy number Infertility real-time PCR assay 21898105 chrY 24543128 25817709 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24600763 26180436 Copy number Infertility real-time PCR assay 21898105 chrY 24600763 26180436 Deletion Azoospermia qPCR 21429917 chrY 24654213 25040759 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 24697563 25040759 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 24738968 26042240 Copy number Infertility real-time PCR assay 21898105 chrY 24738968 26042240 Deletion Azoospermia qPCR 21429917 chrY 24765501 26015710 Deletion Azoospermia qPCR 21429917 chrY 24768072 27053967 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 24768072 27053967 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 24869967 25220935 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24869967 25817709 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24869967 26727178 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24869967 26842096 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24869967 26842096 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24877430 25220935 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24877430 25220935 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24877430 25653680 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24877430 25653680 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24877430 26842096 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 24877430 26842096 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 25040867 25649572 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 25051684 25226903 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrY 25051696 25776875 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 25086103 25213491 Loss early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrY 25125736 25162560 Copy number Infertility real-time PCR assay 21898105 chrY 25187705 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 25187705 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 25241502 25397143 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 25241502 25501828 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 25275502 25437503 Deletion Non-syndromic sensorineural hearing loss PCR 17712485 chrY 2538001 2569000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 25400000 27200000 Deletion infertile References 20089613 chrY 25400000 27200000 Deletion Testicular failure Multiplex polymerase chain reaction 20966427 chrY 25400000 27200000 Microdeletion prenatal diagnosis array CGH 20576126 chrY 25400915 25771985 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 25470410 25653680 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 25470410 25653680 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 25649692 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 2565522 2573448 Gain and loss Pancreatic cancer SNP array 17952125 chrY 25664067 26127308 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 25664067 26127678 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 2569001 2617500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 25776875 26127308 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 25846090 26127678 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 2602589 2652702 Gain and loss Pancreatic cancer SNP array 17952125 chrY 2617501 2638500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 2638501 2683000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 2663476 2727316 Gain and loss Pancreatic cancer SNP array 17952125 chrY 2683001 2699000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 26833326 57728335 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 26835125 27123476 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 26847504 57728335 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 26857297 26962454 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 26870161 27073218 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrY 26913546 27053967 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 26940659 27064382 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 26958001 26966000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 26962454 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 26966001 27076000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 2698214 57369605 Gain Non-syndromic sensorineural hearing loss array CGH 18496225 chrY 2699001 2709500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 27053967 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 27064382 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 27076001 27077500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 27077501 27193500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 2709501 6838000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 2710250 10535986 Copy number Incontinentia Pigmenti Agilent SurePrint G19 one Million microarrays 22033527 chrY 2715180 11300000 Copy number gain Normal High-resolution SNP genotyping 21211785 chrY 2715180 11300000 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 11300000 LOH Normal High-resolution SNP genotyping 21211785 chrY 2715180 12507424 LOH Normal High-resolution SNP genotyping 21211785 chrY 2715180 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2904031 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2939338 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2939338 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2946306 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2946306 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2954791 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2954791 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2966936 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2966936 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2977977 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2977977 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2999946 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 2999946 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 3016363 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 3016363 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 3035171 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 3035171 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 3074624 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 3074624 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 3743082 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2715180 3743082 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 3743082 LOH Normal High-resolution SNP genotyping 21211785 chrY 2715180 3752828 LOH Normal High-resolution SNP genotyping 21211785 chrY 2715180 4013402 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 4013402 LOH Normal High-resolution SNP genotyping 21211785 chrY 2715180 6093639 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2715180 6137502 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2715180 6149197 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2715180 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 2715180 6158818 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 6158818 LOH Normal High-resolution SNP genotyping 21211785 chrY 2715180 6668297 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2715180 6681528 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2715180 6681528 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 6681528 LOH Normal High-resolution SNP genotyping 21211785 chrY 2715180 6703089 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2715180 6703089 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2715180 6703089 LOH Normal High-resolution SNP genotyping 21211785 chrY 27193501 57381500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 27200000 57772954 Gain Acute lymphoblastic leukemia Affymetrix 500K or SNP 6.0 microarrays 21390130 chrY 2768081 2904031 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 2904031 6681528 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2904031 6681528 LOH Normal High-resolution SNP genotyping 21211785 chrY 2939338 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2939338 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 2946306 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2946306 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 2954791 12507424 LOH Normal High-resolution SNP genotyping 21211785 chrY 2954791 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2954791 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 2954791 6681528 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2954791 6681528 LOH Normal High-resolution SNP genotyping 21211785 chrY 2954791 6703089 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2954791 6703089 LOH Normal High-resolution SNP genotyping 21211785 chrY 2966936 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2966936 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 2977977 4023306 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2977977 4023306 LOH Normal High-resolution SNP genotyping 21211785 chrY 2977977 6137502 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2977977 6137502 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2977977 6149197 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2977977 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2977977 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 2977977 6158818 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2977977 6158818 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2977977 6668297 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2977977 6671811 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2977977 6681528 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2977977 6681528 LOH Normal High-resolution SNP genotyping 21211785 chrY 2977977 6703089 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 2977977 6703089 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2977977 6703089 LOH Normal High-resolution SNP genotyping 21211785 chrY 2999946 4032491 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2999946 4032491 LOH Normal High-resolution SNP genotyping 21211785 chrY 2999946 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2999946 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 2999946 6681528 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2999946 6681528 LOH Normal High-resolution SNP genotyping 21211785 chrY 2999946 6703089 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 2999946 6703089 LOH Normal High-resolution SNP genotyping 21211785 chrY 3011962 4354436 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chrY 3016363 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 3016363 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 3035171 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 3035171 6681528 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 3035171 6681528 LOH Normal High-resolution SNP genotyping 21211785 chrY 3072083 3082442 Duplication Intellectual disability Array CGH 22102821 chrY 3072083 6154525 Duplication Intellectual disability Array CGH 22102821 chrY 3074624 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 3074624 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 3300000 11200000 Deletion abnormal development HR-CGH, Array-CGH 18461090 chrY 3743082 4049775 Copy number gain Normal High-resolution SNP genotyping 21211785 chrY 3743082 4061014 Copy number gain Normal High-resolution SNP genotyping 21211785 chrY 3743082 4110074 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 3743082 4110074 Copy number gain Normal High-resolution SNP genotyping 21211785 chrY 3752828 4110074 Copy number gain Normal High-resolution SNP genotyping 21211785 chrY 3768070 3823149 High copy gain Non-syndromic sensorineural hearing loss Agilent 24M Human CGH array 19587683 chrY 382501 442000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 386805 57461078 Copy number Normal - 22034057 chrY 4049775 24768072 LOH Normal High-resolution SNP genotyping 21211785 chrY 4049775 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4049775 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 4061014 11300000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4061014 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 4065271 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 4099452 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4099452 6149197 LOH Normal High-resolution SNP genotyping 21211785 chrY 4099452 6703089 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4099452 6703089 LOH Normal High-resolution SNP genotyping 21211785 chrY 4104060 11300000 LOH Normal High-resolution SNP genotyping 21211785 chrY 4104060 6149197 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4110074 11300000 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4110074 14875604 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 16778774 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 19564844 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 21340792 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 22775814 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 23061970 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 23220646 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 23310583 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 26857297 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 26913546 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4110074 26913546 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 26940659 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4110074 26940659 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4110074 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 4110074 6681528 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4110074 6681528 LOH Normal High-resolution SNP genotyping 21211785 chrY 4120492 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 4189650 26948215 LOH Normal High-resolution SNP genotyping 21211785 chrY 4189650 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 4189650 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 4299268 4611426 Loss Breast cancer sequencing by Illumina Genome Analyzer 21364760 chrY 442001 463000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 463001 688000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 57231500 57772954 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 57231500 57772954 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 57231500 57772954 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 57231500 57772954 LOH Normal High-resolution SNP genotyping 21211785 chrY 57231500 57772954 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 57381501 57392500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 57392501 57407000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 57407001 57411000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 57411001 57413500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 57413501 57442500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 57427090 57430578 Loss Ovarian clear cell carcinoma Affymetrix U133 Plus 2.0 and SNP 6.0 oligonucleotide arrays 21343371 chrY 57442501 57690000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 57690001 57738500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 57738501 57772954 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 59003028 57772954 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 5999160 6170200 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 5999160 6369813 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 5999160 6369813 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 6093639 6518644 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 6137502 11300000 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6137502 11300000 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 6137502 12443704 LOH Normal High-resolution SNP genotyping 21211785 chrY 6149197 11300000 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6149197 11300000 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 6149197 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6149197 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 6158818 11300000 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6158818 11300000 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 6158818 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6158818 6499929 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 6359046 9203742 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 6359046 9209300 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 6368578 9208882 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 6460537 9202205 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 6460537 9209300 Copy number Normal Affymetrix SNP 6.0 micrarray 21489293 chrY 6499929 6668297 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 6518644 6668297 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 6579880 6620575 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrY 6668297 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 6671811 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 6681528 11300000 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6681528 11300000 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 6681528 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6681528 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 6681528 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 6703089 11300000 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6703089 11300000 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 6703089 27227445 Allelic imbalance Normal High-resolution SNP genotyping 21211785 chrY 6703089 27227445 Copy number gain Normal High-resolution SNP genotyping 21211785 chrY 6703089 27227445 Copy number loss Normal High-resolution SNP genotyping 21211785 chrY 6703089 27227445 High copy gain Normal High-resolution SNP genotyping 21211785 chrY 6703089 27227445 Homozygous copy loss Normal High-resolution SNP genotyping 21211785 chrY 6703089 27227445 LOH Normal High-resolution SNP genotyping 21211785 chrY 6703089 27227445 Total allelic loss Normal High-resolution SNP genotyping 21211785 chrY 6834326 6834426 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 6838001 6840000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 6840001 7200500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 688001 936500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 6895278 7233586 Deletion Intellectual disability Array CGH 22102821 chrY 6895278 7233586 Duplication Intellectual disability Array CGH 22102821 chrY 7200501 7203500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 7203501 7585000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 7348864 7491480 Duplication Sertoli-cell only syndrome Array-CGH 20877625 chrY 7546405 7546490 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 7585001 7589000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 7589001 7606000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 7606001 7609500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 7609501 7617000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 7617001 7621000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 7621001 8179500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 7650000 8950000 Loss Chordoma 32k BAC microarray, 1 Mb BAC microarray 18071362 chrY 7669722 10144057 Loss Bladder cancer array-CGH 21909424 chrY 7738992 7981359 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 8033404 8033504 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 8173477 8173612 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 8179501 8183000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8183001 8207000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8187550 8188550 Loss Osteosarcoma References 21215367 chrY 8189429 8190429 Gain Osteosarcoma References 21215367 chrY 8207001 8210500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8210501 8226500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8226501 8228000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8228001 8441500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8441501 8445500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8445501 8452000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8452001 8704500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8704501 8708000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8708001 8713000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8713001 8731000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8731001 8737500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8737501 8791000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8791001 8797000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8792897 8792947 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 8797001 8829000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8829001 8832500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8832501 8855000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8837913 8838013 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 8855001 8859500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8859501 8897500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8897501 8902000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8898452 8960986 Gain Normal BAC array 16365383 chrY 8902001 8957500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 8957501 9145000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 9000204 9001613 Gain Normal BAC array 16365383 chrY 9145001 9200500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 9174325 10072259 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 9174325 10072259 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 9174325 9284683 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 9174325 9997264 Gain Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 9174325 9997264 Loss Non-syndromic sensorineural hearing loss Affymetrix GeneChip Human Mapping 500K early access arrays 17122850 chrY 9200501 9205000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 9205001 9223000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 9223001 9226000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 9226001 9992000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 9235072 9978122 Microdeletion impairment of spermatogenesis PCR 17881721 chrY 936501 1317000 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 939827 940836 Gain and loss Pancreatic cancer SNP array 17952125 chrY 9443806 9443906 Insertion Non-syndromic sensorineural hearing loss PCR amplification and capillary sequencing 22037309 chrY 9963940 9964734 Insertion or deletion Non-syndromic sensorineural hearing loss MCD analysis, Agilent and NimbleGen microarrays 18451855 chrY 9992001 9996500 Copy number Normal ReadDepth: A Parallel R Package 21305028 chrY 9996263 10037775 Gain early-passage human iPS cells Affymetrix SNP array 6.0 21368824 chrY 9996501 10071000 Copy number Normal ReadDepth: A Parallel R Package 21305028